id category name description provided_by synonym 0000114 0000231 0000233 0000234 0000424 0000589 0000700 0006012 0100001 :http://attempto.ifi.uzh.ch/ace_lexicon#TV_pl :http://attempto.ifi.uzh.ch/ace_lexicon#TV_sg :http://attempto.ifi.uzh.ch/ace_lexicon#TV_vbg :http://geneontology.org/formats/oboInOwl#created_by :https://w3id.org/biodatamodels/gff/end :https://w3id.org/biodatamodels/gff/start BFO_CLIF_specification_label BFO_OWL_specification_label Date P371 alternative_term close_match comment consider created_by creation_date creator curator_note definition_source deprecated editor_note editor_preferred_term elucidation example_of_usage genome_build has_alternative_id has_associated_axiom(fol) has_associated_axiom(nl) has_o_b_o_format_version has_o_b_o_namespace has_synonym homepage imported_from in_subset is_class_level is_metadata_tag knowledge_source license logical_interpretation mondo#excluded_synonym mondo#pathogenesis mondo#related object predicate prior_version relation see_also shorthand source subject term_editor type MONDO:0000745 biolink:NamedThing cardiac arrest Cessation of breathing and/or cardiac function. tmpaxzxjjyw_mondo_relaxed.owl circulatory arrest|cardiopulmonary arrest NCIT:C50483|ICD9:427.5|UMLS:C0444720|SCTID:410429000|MESH:D006323|UMLS:C0018790|ICD10:I46|NCIT:C50479|DOID:0060319 owl:Class MONDO:0007263 biolink:NamedThing cardiac rhythm disease Any variation from the normal rate or rhythm (which may include the origin of the impulse and/or its subsequent propagation) in the heart. tmpaxzxjjyw_mondo_relaxed.owl arrhythmia ICD9:427.9|EFO:0004269|NCIT:C2881|SCTID:698247007 owl:Class MONDO:0002400 biolink:NamedThing synovitis Inflammation of a synovial membrane. tmpaxzxjjyw_mondo_relaxed.owl synovial membrane of synovial joint inflammation|synovitis|synovitis (disease)|inflammation of synovial membrane of synovial joint|Synovitides synovitis (disease) SCTID:416209007|DOID:2703|NCIT:C50766|MESH:D013585|GARD:0007722|HP:0100769|EFO:0008997 owl:Class MONDO:0000001 biolink:NamedThing disease or disorder A disease is a disposition to undergo pathological processes that exists in an organism because of one or more disorders in that organism. tmpaxzxjjyw_mondo_relaxed.owl diseases|medical condition|disease or disorder|disease|disorder|other disease|disease or disorder, non-neoplastic|disorders|condition|diseases and disorders SCTID:64572001|MESH:D004194|Orphanet:377788|NCIT:C2991|UMLS:C0012634|ICD9:799.9|DOID:4|OGMS:0000031|EFO:0000408 owl:Class GO:2000381 biolink:NamedThing negative regulation of mesoderm development Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000380 biolink:NamedThing regulation of mesoderm development Any process that modulates the frequency, rate or extent of mesoderm development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001746 biolink:NamedThing capsule of thyroid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003893 biolink:NamedThing capsule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001684 biolink:NamedThing mandible tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004742 biolink:NamedThing dentary tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051216 biolink:NamedThing cartilage development The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpaxzxjjyw_mondo_relaxed.owl cartilage element development|cartilage formation|cartilage organ development|cartilage biogenesis|cartilage biosynthesis|chondrogenesis owl:Class GO:0048513 biolink:NamedThing animal organ development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpaxzxjjyw_mondo_relaxed.owl organogenesis|development of an organ owl:Class MONDO:0006424 biolink:NamedThing soft tissue neoplasm A benign, intermediate, or malignant neoplasm that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. tmpaxzxjjyw_mondo_relaxed.owl SOFTTISSUE|tumor of soft tissue|soft tissue tumor|neoplasm of the soft tissue|soft tissue neoplasm|neoplasm of soft tissue|soft tissue tumors|tumor of the soft tissue ONCOTREE:SOFTTISSUE|EFO:1000541|SCTID:387837005|NCIT:C3377 owl:Class MONDO:0044334 biolink:NamedThing connective and soft tissue neoplasm A benign, intermediate, or malignant neoplasm that affects the connective and soft tissue. tmpaxzxjjyw_mondo_relaxed.owl skeletal and soft tissue tumor|soft tissue and bone tumor|tumor of skeletal and soft tissue|soft tissue and bone neoplasm|tumor of soft tissue and bone|neoplasm of soft tissue and bone|skeletal and soft tissue neoplasm|connective and soft tissue tumor|musculoskeletal and soft tissue tumor|connective and soft tissue neoplasm|neoplasm of soft tissue and skeleton|neoplasm of skeletal and soft tissue|tumor of soft tissue and skeleton|musculoskeletal and soft tissue neoplasm NCIT:C3810 Editor note: we follow NCIT in making this a grouping of all soft tissue and connective tissue neoplasms, including bone owl:Class ECTO:4000025 biolink:NamedThing exposure to increased pressure A exposure event involving the interaction of an exposure receptor to increased pressure. tmpaxzxjjyw_mondo_relaxed.owl increased pressure exposure owl:Class ExO:0000002 biolink:NamedThing exposure event An interaction between an exposure stressor and an exposure_receptor. tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0000325 biolink:NamedThing rRNA_large_subunit_primary_transcript A primary transcript encoding a large ribosomal subunit RNA. tmpaxzxjjyw_mondo_relaxed.owl rRNA large subunit primary transcript|35S rRNA primary transcript owl:Class SO:0000209 biolink:NamedThing rRNA_primary_transcript A primary transcript encoding a ribosomal RNA. tmpaxzxjjyw_mondo_relaxed.owl rRNA primary transcript|ribosomal RNA primary transcript owl:Class MONDO:0021211 biolink:NamedThing brain neoplasm A neoplasm (disease) that involves the brain. tmpaxzxjjyw_mondo_relaxed.owl brain neoplasm (disease)|brain tumor|neoplasm of brain|neoplasm of the brain|brain neoplasms|tumor of brain|tumor of the Brain NCIT:C2907 owl:Class MONDO:0005560 biolink:NamedThing brain disorder A disease affecting the brain or part of the brain. tmpaxzxjjyw_mondo_relaxed.owl brain disease|brain disease or disorder|disorder of brain|encephalopathy|disease or disorder of brain|disease of brain NCIT:C96413|DOID:936|ICD9:348.30|ICD9:348.9|SCTID:81308009|ICD9:348.8|UMLS:C0085584|ICD9:348.3|UMLS:C0006111|MESH:D001927|ICD10:G93.40|ICD10:G93.9|EFO:0005774 Editor note: NCIT has different classes for brain disease and encephalopathy owl:Class CL:1001581 biolink:NamedThing lateral ventricle glial cell Glial cell of lateral ventricle. tmpaxzxjjyw_mondo_relaxed.owl lateral ventricle glial cells CALOHA:TS-1258 owl:Class CL:0000125 biolink:NamedThing glial cell A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. tmpaxzxjjyw_mondo_relaxed.owl neuroglia|neuroglial cell CALOHA:TS-0415|FMA:54536|BTO:0002606 cell owl:Class CHEBI:48706 biolink:NamedThing antagonist Substance that attaches to and blocks cell receptors that normally bind naturally occurring substances. tmpaxzxjjyw_mondo_relaxed.owl antagonist|antagonists|antagonista|antagoniste owl:Class CHEBI:52210 biolink:NamedThing pharmacological role A biological role which describes how a drug interacts within a biological system and how the interactions affect its medicinal properties. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009237 biolink:NamedThing focal epithelial hyperplasia Hyperplasia characterized by the presence of a focal proliferation of epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl multifocal epithelial hyperplasia|FEH, oral|focal epithelial hyperplasia, oral|heck's disease|heck disease NCIT:C97083|EFO:0007275|MESH:D017573|UMLS:C0206067|OMIM:229045|DOID:5362|ICD9:528.79|SCTID:6121001 owl:Class MONDO:0005108 biolink:NamedThing viral infectious disease Any disease caused by a virus. tmpaxzxjjyw_mondo_relaxed.owl virus infection|viral disorder|infections, Viruses|Viruses infectious disease|Viruses caused disease or disorder|Viruses disease or disorder|infection, viral|viral infection|Viruses infection|viral disease DOID:934|ICD9:079.99|SCTID:34014006|EFO:0000763|ICD10:A94|MESH:D014777|ICD10:B34.9|ICD9:066.9|ICD9:060-066.99|ICD10:B34|ICD9:078.89|NCIT:C3439 owl:Class UBERON:0003232 biolink:NamedThing epithelium of knee tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000483 biolink:NamedThing epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004187 biolink:NamedThing nodular fasciitis A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl fasciitis - nodular|pseudosarcomatous fibromatosis|pseudosarcomatous fasciitis|nodular fasciitis ICD10:M72.4|DOID:7327|SCTID:400138001|Orphanet:477742|NCIT:C3827|ICD9:728.79|UMLS:C0410005 owl:Class MONDO:0006209 biolink:NamedThing fibroblastic neoplasm A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts. tmpaxzxjjyw_mondo_relaxed.owl fibroblastic tumor|fibrous tumor|fibrocytic neoplasm|fibrogenic neoplasm|fibroblastic neoplasm|fibrous neoplasm|fibrogenicTumor|fibrocytic tumor NCIT:C7075|EFO:1000255 owl:Class HGNC:5013 biolink:NamedThing HMOX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0000704 biolink:NamedThing gene A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. tmpaxzxjjyw_mondo_relaxed.owl INSDC_feature:gene owl:Class GO:0043066 biolink:NamedThing negative regulation of apoptotic process Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. tmpaxzxjjyw_mondo_relaxed.owl pro-survival|negative regulation of apoptosis|down regulation of apoptosis|downregulation of apoptosis|inhibition of apoptosis|down-regulation of apoptosis|apoptosis inhibitor activity|anti-apoptosis owl:Class GO:0043069 biolink:NamedThing negative regulation of programmed cell death Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of programmed cell death|downregulation of programmed cell death|inhibition of programmed cell death|down regulation of programmed cell death|negative regulation of non-apoptotic programmed cell death owl:Class MONDO:0009677 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2C Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy type 2C|severe childhood autosomal recessive muscular dystrophy, North African type|limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency|limb-girdle muscular dystrophy, type 2C|DMDA1|muscular dystrophy, limb-girdle, type 2C|SCARMD|autosomal recessive Duchenne-like muscular dystrophy type 1|Duchenne-like muscular dystrophy, autosomal recessive, type 1|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG|muscular dystrophy, Duchenne-like|Dmda|Adhalin deficiency, secondary|LGMD2C|limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency|severe childhood autosomal recessive muscular dystrophy North African type|sarcoglycan, gamma, deficiency of|Maghrebian myopathy|SGCG autosomal recessive limb-girdle muscular dystrophy|gamma-sarcoglycanopathy|deficiency of sarcoglycan gamma UMLS:C0410173|MESH:C535900|DOID:0110277|OMIM:253700|GARD:0002429|ICD10:G71.0|Orphanet:353 owl:Class MONDO:0015152 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy Autosomal recessive form of limb-girdle muscular dystrophy. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy, autosomal recessive|muscular dystrophy, limb-girdle, autosomal recessive OMIMPS:253600|Orphanet:102015|UMLS:C2931907|DOID:0110274|ICD10:G71.0|MESH:C538640 owl:Class HGNC:8910 biolink:NamedThing PGR tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:23338 biolink:NamedThing ACBD5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012099 biolink:NamedThing AICA-ribosiduria AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness. tmpaxzxjjyw_mondo_relaxed.owl Atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|ATIC deficiency|Aica-Ribosuria due to Atic deficiency|AICAR transformylase/IMP cyclohydrolase deficiency UMLS:C1837530|Orphanet:250977|SCTID:725289009|UMLS:C4510943|MESH:C563876|ICD10:E79.8|OMIM:608688 owl:Class MONDO:0020242 biolink:NamedThing genetic macular dystrophy Macular dystrophy that is related to a change in a gene. tmpaxzxjjyw_mondo_relaxed.owl genetic macular dystrophy (disease)|genetic macular dystrophy NCIT:C140264|Orphanet:98664|SCTID:276436007|ICD10:H35.5 owl:Class GO:0045727 biolink:NamedThing positive regulation of translation Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of protein anabolism|positive regulation of protein biosynthetic process|positive regulation of protein biosynthesis|positive regulation of protein formation|upregulation of protein biosynthetic process|activation of protein biosynthetic process|up regulation of protein biosynthetic process|stimulation of protein biosynthetic process|positive regulation of protein synthesis|up-regulation of protein biosynthetic process owl:Class GO:0010557 biolink:NamedThing positive regulation of macromolecule biosynthetic process Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008199 biolink:NamedThing late-onset Parkinson disease A Parkinson disease that begins after around the age of 50. tmpaxzxjjyw_mondo_relaxed.owl LOPD|late-onset Parkinson disease|hereditary late onset Parkinson disease|late onset Parkinson's disease|hereditary late-onset Parkinson disease|late onset Parkinson disease|autosomal dominant late-onset Parkinson disease|PARK|PD|Parkinson disease, late-onset OMIM:614251|OMIM:168601|SCTID:716662004|OMIM:605543|Orphanet:411602|OMIM:614203|DOID:0060892|OMIM:616361|ICD10:G20|UMLS:C3160718|OMIM:607688|OMIM:607060|OMIM:168600 owl:Class MONDO:0005180 biolink:NamedThing Parkinson disease A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression. tmpaxzxjjyw_mondo_relaxed.owl paralysis agitans|Parkinson disease|Parkinson's disease OMIM:556500|EFO:0002508|ICD9:332.0|OMIM:616710|ICD9:332|OMIM:616361|ICD10:G20|OMIM:613164|Orphanet:2828|Orphanet:319705|OMIMPS:168600|MESH:D010300|KEGG:05012|SCTID:49049000|OMIM:168600|UMLS:C0030567|NIFSTD:birnlex_2098|OMIM:606852|OMIM:300557|DOID:14330|NCIT:C26845|OMIM:602404 owl:Class MONDO:0013507 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 tmpaxzxjjyw_mondo_relaxed.owl CGD, autosomal recessive cytochrome B-positive, type 3|granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3|CDG3|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type III|granulomatous disease, chronic, due to Ncf4 deficiency OMIM:613960|Orphanet:379|UMLS:C3151409|DOID:0070194 owl:Class MONDO:0018305 biolink:NamedThing chronic granulomatous disease Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas. tmpaxzxjjyw_mondo_relaxed.owl congenital dysphagocytosis|chronic septic granulomatosis|CGD|granulomatous disease, chronic|Bridges-Good syndrome|Quie syndrome OMIMPS:306400|OMIM:233670|MedDRA:10008906|Orphanet:379|MESH:D006105|OMIM:138990|GARD:0006100|OMIM:233700|SCTID:387759001|OMIM:613960|ICD10:D71|NCIT:C26788|OMIM:233710|OMIM:306400|DOID:3265|UMLS:C0018203|OMIM:233690 https://rarediseases.info.nih.gov/diseases/6100/chronic-granulomatous-disease owl:Class MONDO:0021124 biolink:NamedThing female infertility Diminished or absent ability of a female to achieve conception. tmpaxzxjjyw_mondo_relaxed.owl postpartum sterility|sub fertility, female|subfertility, female|sub-fertility, female|sterility, female|sterility, postpartum|female reproductive system infertility disorder|infertility disorder of female reproductive system|female sub-fertility|female sterility|female reproductive system infertility|female infertility|female subfertility UMLS:C0341869|MESH:D007247|SCTID:6738008|ICD9:628.8|EFO:0008560|ICD10:N97|ICD9:628.9 owl:Class MONDO:0002263 biolink:NamedThing female reproductive system disorder A disease involving the female reproductive system. tmpaxzxjjyw_mondo_relaxed.owl disease of female genital system|disorder of female genital system|disorder of female reproductive system|disorder of female genital tract|gynecological disease|disease or disorder of female reproductive system|female reproductive disease|disease of female reproductive system|female reproductive system disorder|female reproductive system disease or disorder|female reproductive system disease DOID:229|SCTID:310789003|NCIT:C27020|MESH:D005831|ICD9:629.9 owl:Class MONDO:0005734 biolink:NamedThing dourine A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia. tmpaxzxjjyw_mondo_relaxed.owl SCTID:15566009|UMLS:C0013076|EFO:0007240|MESH:D004313 owl:Class MONDO:0005583 biolink:NamedThing non-human animal disease A disease that occurs in animals. tmpaxzxjjyw_mondo_relaxed.owl animal disease|diseases, animal EFO:0005932|MESH:D000820|UMLS:C0003047 owl:Class UBERON:0001818 biolink:NamedThing tarsal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015251 biolink:NamedThing modified sebaceous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019306 biolink:NamedThing nose epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10723 biolink:NamedThing SEMA3A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013125 biolink:NamedThing CLAPO syndrome CLAPO syndrome is a newly described syndrome consisting of capillary malformation of the lower lip (C), lymphatic malformation of the face and neck (L), asymmetry of face and limbs (A) and partial or generalized overgrowth (O). tmpaxzxjjyw_mondo_relaxed.owl capillary malformation of the LOWER LIP, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth|Lopez-Gutierrez syndrome|Clapo MESH:C567763|OMIM:613089|ICD10:Q87.3|UMLS:C2751313|SCTID:717765001|Orphanet:168984 owl:Class MONDO:0019716 biolink:NamedThing overgrowth syndrome A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94828|ICD10:Q87.3|Orphanet:93460|UMLS:CN206621|UMLS:C2986703 owl:Class MONDO:0003835 biolink:NamedThing gastric cardia adenocarcinoma A carcinoma that arises from glandular epithelial cells of the cardia of stomach. tmpaxzxjjyw_mondo_relaxed.owl cardia of stomach adenocarcinoma|adenocarcinoma of cardia of stomach|adenocarcinoma of gastric cardia|adenocarcinoma of the cardia of the stomach|adenocarcinoma of the gastric cardia UMLS:C1333762|NCIT:C5247|DOID:6271 owl:Class MONDO:0004970 biolink:NamedThing adenocarcinoma A common cancer characterized by the presence of malignant glandular cells. Morphologically, adenocarcinomas are classified according to the growth pattern (e.g., papillary, alveolar) or according to the secreting product (e.g., mucinous, serous). Representative examples of adenocarcinoma are ductal and lobular breast carcinoma, lung adenocarcinoma, renal cell carcinoma, hepatocellular carcinoma (hepatoma), colon adenocarcinoma, and prostate adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl ADNOS|adenocarcinoma, malignant|adenocarcinoma NOS (morphologic abnormality)|adenocarcinoma|adenocarcinomas|adenocarcinoma, no subtype (morphologic abnormality) DOID:299|ICDO:8140/3|UMLS:C0001418|EFO:0000228|ONCOTREE:ADNOS|CSP:2000-0386|SCTID:443961001|MESH:D000230|NCIT:C2852 owl:Class MONDO:0004551 biolink:NamedThing Meckel diverticulitis Inflammation of a congenital diverticulum of the lower intestine. tmpaxzxjjyw_mondo_relaxed.owl inflammation of Meckel's diverticulum|Meckel's diverticulitis|Meckel diverticulitis|Meckel's diverticulum inflammation DOID:8408|UMLS:C0267497|NCIT:C27300|SCTID:48241004 owl:Class MONDO:0022901 biolink:NamedThing Crohn disease of the esophagus An Crohn disease involving a pathogenic inflammatory response in the esophagus. tmpaxzxjjyw_mondo_relaxed.owl Crohn's disease of the esophagus GARD:0000203|UMLS:C0341116 owl:Class MONDO:0005011 biolink:NamedThing Crohn disease A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement. tmpaxzxjjyw_mondo_relaxed.owl pediatric Crohn's disease|regional enteritis|Crohn's disease of large bowel|Crohn disease|Crohn's disease|Crohn's disease of colon|granulomatous colitis UMLS:CN043071|NCIT:C35211|SCTID:34000006|DOID:8778|Orphanet:206|OMIM:266600|ICD10:K50.1|SCTID:7620006|EFO:0000384|ICD9:555.1|NCIT:C2965 owl:Class MONDO:0020491 biolink:NamedThing subcortical band heterotopia A developmental brain abnormality characterized by atypical migration of neurons during cortical development. tmpaxzxjjyw_mondo_relaxed.owl subcortical laminar heterotopia|Double cortex|double cortex syndrome|familial band heterotopia|HeCo|band heterotopia|heterotopic cortex UMLS:C1848201|OMIM:300067|GARD:0001904|NCIT:C116933|GARD:0002250|OMIM:600348|UMLS:C4284594|DOID:0111169|Orphanet:99796|OMIM:607432|ICD10:Q04.3 Editor note: check this hierarchy https://rarediseases.info.nih.gov/diseases/2250/familial-band-heterotopia owl:Class MONDO:0002254 biolink:NamedThing syndromic disease A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. tmpaxzxjjyw_mondo_relaxed.owl symptom cluster|syndromic disease|clusters, symptom|syndromic disease or disorder|cluster, symptom|syndromes|symptom clusters|syndrome associated with disease or disorder|syndrome DOID:225|OGMS:0000086|SCTID:64572001|UMLS:C0039082|NCIT:C28193|MESH:D013577 owl:Class MONDO:0019885 biolink:NamedThing distal trisomy 11q Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. tmpaxzxjjyw_mondo_relaxed.owl telomeric duplication 11q|distal trisomy type 11q|trisomy 11qter|distal duplication 11q Orphanet:96103|SCTID:764447009|MESH:C538294|ICD10:Q92.3 owl:Class MONDO:0016962 biolink:NamedThing partial duplication of the long arm of chromosome 11 tmpaxzxjjyw_mondo_relaxed.owl 11q trisomy|partial trisomy of chromosome 11q|partial duplication of the long arm of chromosome type 11|trisomy 11q|partial trisomy 11q|Duplication 11q|chromosome 11q duplication|partial trisomy of the long arm of chromosome 11|partial duplication of chromosome 11q|11q duplication 2022-04-01 Orphanet:262923|GARD:0001923 Reason: duplicate. This will be merged with MONDO:0022173 chromosome 11q trisomy owl:Class OBO:CHR_9606-chr1p21.3 biolink:NamedThing 1p21.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 99300000 94300000 hg38 owl:Class GO:0098687 biolink:NamedThing chromosomal region Any subdivision of a chromosome along its length. tmpaxzxjjyw_mondo_relaxed.owl chromosome region owl:Class MONDO:0014201 biolink:NamedThing developmental and epileptic encephalopathy, 18 tmpaxzxjjyw_mondo_relaxed.owl EIEE18|early infantile epileptic encephalopathy without suppression burst|DEE18|epileptic encephalopathy, early infantile, 18|epileptic encephalopathy, early infantile, type 18 Orphanet:369894|UMLS:C3809624|OMIM:615476|DOID:0080413|ICD10:G40.4 owl:Class MONDO:0015159 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome-intellectual disability tmpaxzxjjyw_mondo_relaxed.owl MCA/MR|multiple congenital anomalies-intellectual disability with or without dysmorphism|multiple congenital anomalies/dysmorphic syndrome-intellectual disability UMLS:CN228396|Orphanet:102283 owl:Class CL:0000038 biolink:NamedThing erythroid progenitor cell A progenitor cell committed to the erythroid lineage. tmpaxzxjjyw_mondo_relaxed.owl colony forming unit erythroid|CFU-E|blast forming unit erythroid|burst forming unit erythroid|BFU-E|erythroid stem cell BTO:0004911 cell owl:Class CL:0000839 biolink:NamedThing myeloid lineage restricted progenitor cell A progenitor cell restricted to the myeloid lineage. tmpaxzxjjyw_mondo_relaxed.owl myeloid progenitor cell BTO:0004730|CALOHA:TS-2099|FMA:70339 Note that this is a class of cell types, not an identified single cell type. cell owl:Class MONDO:0004965 biolink:NamedThing acinar cell carcinoma A carcinoma that arises from epithelial cells of the acinar cell tmpaxzxjjyw_mondo_relaxed.owl acinic cell tumor|acinar cell carcinoma|carcinoma, acinar cell, malignant|acinar carcinoma|ACCC|acinar cell carcinoma (morphologic abnormality)|carcinoma of acinar cell|acinar cell adenocarcinoma|acinic cell adenocarcinoma|acinar adenocarcinoma|acinic cell carcinoma UMLS:C0206685|ONCOTREE:ACCC|ICDO:8550/3|MESH:D018267|NCIT:C3768|GARD:0008568|DOID:3025|EFO:0000216 owl:Class MONDO:0004993 biolink:NamedThing carcinoma A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas. Morphologically, the malignant epithelial cells may display abnormal mitotic figures, anaplasia, and necrosis. Carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Carcinomas invade the surrounding tissues and tend to metastasize to other anatomic sites. Lung carcinoma, skin carcinoma, breast carcinoma, colon carcinoma, and prostate carcinoma are the most frequently seen carcinomas. tmpaxzxjjyw_mondo_relaxed.owl epithelioma|epithelioma malignant|malignant epithelioma|carcinoma, malignant|malignant epithelial tumor|Other carcinoma|epithelial carcinoma|malignant epithelial neoplasm|carcinoma SCTID:722688002|ICDO:8010/3|NCIT:C2916|EFO:0000313|MESH:D009375|UMLS:C0007097|DOID:305|CSP:2000-1867|ICDO:8011/3|MESH:D002277 owl:Class MONDO:0016705 biolink:NamedThing angiocentric glioma Angiocentric glioma (AG) is an extremely rare slow-growing glial neoplasm of the central nervous system, usually arising in a superficial location in the cerebrum, affecting all ages and both sexes, and characterized by intractable seizures and headaches, with most cases being cured by surgical incision alone and therefore having a good prognosis. tmpaxzxjjyw_mondo_relaxed.owl angiocentric neuroepithelial tumor|Monomorphus angiocentric glioma|angiocentric glioma (WHO grade I)|ANGL Orphanet:251671|NCIT:C92552|UMLS:C2363903|ICD10:C71.9|ICDO:9431/1|ONCOTREE:ANGL owl:Class MONDO:0021637 biolink:NamedThing low grade glioma A grade I or grade II glioma arising from the central nervous system. This category includes pilocytic astrocytoma, diffuse astrocytoma, subependymal giant cell astrocytoma, ependymoma, oligodendroglioma, oligoastrocytoma, and angiocentric glioma. tmpaxzxjjyw_mondo_relaxed.owl low-grade glioma|low grade glioma NCIT:C132067|UMLS:C1997217 owl:Class MONDO:0018807 biolink:NamedThing idiopathic ductopenia tmpaxzxjjyw_mondo_relaxed.owl idiopathic adult ductopenia|IAD UMLS:CN244899|Orphanet:480512 owl:Class MONDO:0004868 biolink:NamedThing biliary tract disorder A disease involving the biliary tree. tmpaxzxjjyw_mondo_relaxed.owl biliary tree disease or disorder|disease of biliary tree|biliary tree disease|disorder of biliary tree|disease or disorder of biliary tree SCTID:105997008|DOID:9741|ICD10:K83.9|ICD9:576.9|MESH:D001660 owl:Class MONDO:0008426 biolink:NamedThing Shprintzen-Goldberg syndrome Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl Shprintzen-Goldberg marfanoid syndrome|Marfanoid disorder with craniosynostosis type 1|SGS|Marfanoid craniosynostosis syndrome|craniosynostosis with arachnodactyly and abdominal hernias|Marfanoid-craniosynostosis syndrome|Marfanoid disorder with craniosynostosis, type 1|Shprintzen-Goldberg craniosynostosis syndrome|Shprintzen-Goldberg syndrome ICD10:Q87.8|NCIT:C124840|Orphanet:2462|GARD:0004861|UMLS:C1321551|SCTID:719069008|OMIM:182212 owl:Class MONDO:0019117 biolink:NamedThing genetic nervous system disorder An instance of nervous system disease that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl rare genetic neurological disorder|genetic nervous system disorder|genetic neurological disorder UMLS:CN205639|Orphanet:71859 owl:Class MONDO:0060711 biolink:NamedThing Jaberi-Elahi syndrome tmpaxzxjjyw_mondo_relaxed.owl Jaberi-Elahi syndrome|JABELS OMIM:617988|UMLS:CN244943 owl:Class MONDO:0003847 biolink:NamedThing Mendelian disease A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary disease or disorder|genetic condition|genetic disease|inherited disease|hereditary disease|molecular disease|inherited genetic disease|hereditary diseases|inborn disorder|genetic disorder|familial disorder SCTID:32895009|EFO:0000508|MESH:D030342|ICD9:799.89|DOID:630|NCIT:C3101|UMLS:C0019247 Usage note: this is intended only for diseases with an inherited genetic etiology. Somatic genetic mutations are excluded. Some ontologies use the term 'genetic disease' in the sense of inherited disorders only, we are here careful to distinguish. owl:Class MONDO:0012731 biolink:NamedThing elliptocytosis 1 Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene. tmpaxzxjjyw_mondo_relaxed.owl elliptocytosis 1|hereditary elliptocytosis caused by mutation in EPB41|4.1-minus trait|EPB41 hereditary elliptocytosis|Protein 4.1 of erythrocyte Membrane, defect of|elliptocytosis, Rhesus-linked type|elliptocytosis type 1|4.1- trait|EL1 OMIM:611804|UMLS:C2678497|MESH:C567520|Orphanet:288 owl:Class MONDO:0017319 biolink:NamedThing hereditary elliptocytosis Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic. tmpaxzxjjyw_mondo_relaxed.owl congenital elliptocytosis|HE|ovalocytosis|hereditary ovalocytosis ICD10:D58.1|OMIM:611804|MESH:D004612|SCTID:178935009|NCIT:C35882|Orphanet:288|DOID:2373|SCTID:191169008|OMIM:235370|MedDRA:10014490|OMIM:130600|NCIT:C36293|UMLS:C0013902|ICD9:282.1|GARD:0006621 owl:Class MONDO:0017687 biolink:NamedThing disorder of neutral amino acid transport An acquired metabolic disease that is has its basis in the disruption of neutral amino acid transport. tmpaxzxjjyw_mondo_relaxed.owl inborn neutral amino acid transport disorder|rare inborn error of neutral amino acid transport|inborn error of neutral amino acid transport UMLS:CN203583|ICD10:E72.0|Orphanet:308451 owl:Class MONDO:0019216 biolink:NamedThing inborn disorder of amino acid absorption and transport tmpaxzxjjyw_mondo_relaxed.owl disorder of amino acid absorption and transport|disorder of amino acid transport ICD10:E72.0|Orphanet:79166|ICD9:270.0|UMLS:C0268641|SCTID:16784003 Editor note: consider changing to transport owl:Class MONDO:0033980 biolink:NamedThing RELA fusion-positive ependymoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:530792 owl:Class MONDO:0003266 biolink:NamedThing ependymal tumor A group of neoplasms which arise from the ependymal lining of the cerebral ventricles and from the remnants of the central canal of the spinal cord. Ependymal tumors occur predominantly in children and young adults with varied morphological features and biological behavior. There are 4 types: ependymoma, anaplastic ependymoma, myxopapillary ependymoma and subependymoma. (WHO) tmpaxzxjjyw_mondo_relaxed.owl ependymal tumors|ependymal tumor|ependymomal tumor|ependymal neoplasm EFO:1000027|NCIT:C6770|Orphanet:301|ONCOTREE:EPMT|ICD10:C71.7|UMLS:C0014474|UMLS:CN203416|OMIM:137800|UMLS:C1333407 owl:Class MONDO:0012465 biolink:NamedThing hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI. tmpaxzxjjyw_mondo_relaxed.owl PIGM-CDG|GPID|congenital disorder of glycosylation due to PIGM deficiency|glycosylphosphatidylinositol deficiency|glycosylphosphatidylinositol biosynthesis defect 1|GPI deficiency UMLS:C4510605|ICD10:E88.8|SCTID:724344004|Orphanet:83639|OMIM:610293|UMLS:C1853205|GARD:0009965 https://rarediseases.info.nih.gov/diseases/9965/hypercoagulability-syndrome-due-to-glycosylphosphatidylinositol-deficiency owl:Class MONDO:0018284 biolink:NamedThing congenital disorder of glycosylation with neurological involvement tmpaxzxjjyw_mondo_relaxed.owl CDG with neurological involvement 2022-03-01 Orphanet:371047|ICD10:E77.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: congenital disorder of glycosylation' MONDO_0015286 owl:Class GO:0044262 biolink:NamedThing cellular carbohydrate metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl cellular carbohydrate metabolism|main pathways of carbohydrate metabolic process|main pathways of carbohydrate metabolism owl:Class GO:0005975 biolink:NamedThing carbohydrate metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. tmpaxzxjjyw_mondo_relaxed.owl single-organism carbohydrate metabolic process|multicellular organismal carbohydrate metabolic process|carbohydrate metabolism owl:Class MONDO:0003881 biolink:NamedThing vulvar apocrine adenocarcinoma An apocrine adenocarcinoma that arises from the sweat glands in the vulva. tmpaxzxjjyw_mondo_relaxed.owl vulvar apocrine adenocarcinoma|apocrine adenocarcinoma of mammalian vulva|mammalian vulva apocrine adenocarcinoma DOID:6448|NCIT:C40308|UMLS:C2202741 owl:Class MONDO:0003214 biolink:NamedThing apocrine adenocarcinoma A carcinoma with apocrine differentiation arising from the sweat glands. It presents as single or multiple nodular lesions which may be ulcerated or hemorrhagic and is usually in the axilla and less often in the anogenital region. It grows in the dermis and infiltrates subcutaneous tissues. It is characterized by the presence of large cells with abundant eosinophilic cytoplasm and large often vesicular nuclei. Most cases are slow growing tumors and have a prolonged course. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the apocrine gland|apocrine carcinoma|apocrine gland adenocarcinoma|apocrine adenocarcinoma (morphologic abnormality)|apocrine gland carcinoma|carcinoma of apocrine gland ICDO:8401/3|NCIT:C4169|DOID:4933|UMLS:C0334346|GARD:0012138|UMLS:C1706827 owl:Class UBERON:0003361 biolink:NamedThing epithelium of sublingual gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35191 biolink:NamedThing triterpene A C30 terpene. tmpaxzxjjyw_mondo_relaxed.owl triterpenes|triterpenos|Triterpen|triterpeno owl:Class CHEBI:35186 biolink:NamedThing terpene A hydrocarbon of biological origin having carbon skeleton formally derived from isoprene [CH2=C(CH3)CH=CH2]. tmpaxzxjjyw_mondo_relaxed.owl terpene|terpenes|terpeno|terpenos|Terpen owl:Class GO:0009967 biolink:NamedThing positive regulation of signal transduction Any process that activates or increases the frequency, rate or extent of signal transduction. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of signaling pathway|stimulation of signal transduction|up-regulation of signal transduction|upregulation of signal transduction|activation of signal transduction|positive regulation of signalling pathway|up regulation of signal transduction owl:Class GO:0009966 biolink:NamedThing regulation of signal transduction Any process that modulates the frequency, rate or extent of signal transduction. tmpaxzxjjyw_mondo_relaxed.owl regulation of signalling pathway|regulation of signaling pathway owl:Class GO:1903531 biolink:NamedThing negative regulation of secretion by cell Any process that stops, prevents or reduces the frequency, rate or extent of secretion by cell. tmpaxzxjjyw_mondo_relaxed.owl inhibition of cellular secretion|down regulation of cellular secretion|down regulation of secretion by cell|negative regulation of cellular secretion|inhibition of secretion by cell|down-regulation of secretion by cell|downregulation of cellular secretion|downregulation of secretion by cell|down-regulation of cellular secretion owl:Class GO:0065007 biolink:NamedThing biological regulation Any process that modulates a measurable attribute of any biological process, quality or function. tmpaxzxjjyw_mondo_relaxed.owl regulation owl:Class MONDO:0012540 biolink:NamedThing age related macular degeneration 4 Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene. tmpaxzxjjyw_mondo_relaxed.owl age-related macular degeneration caused by mutation in CFH|CFH age-related macular degeneration|macular Degeneration, age-related, type 4|age related macular degeneration type 4|ARMD4|macular degeneration, age-related, 4 OMIM:610698|DOID:0110017|UMLS:C1853147|MESH:C565196 owl:Class MONDO:0005150 biolink:NamedThing age-related macular degeneration Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. tmpaxzxjjyw_mondo_relaxed.owl age related Maculopathies|age related macular degeneration|age related maculopathy|AMD|macular degeneration, age-related|Senile macular retinal degeneration|ARMD|age-related macular degeneration|Senile macular degeneration DOID:10871|SCTID:267718000|MESH:D008268|Orphanet:279|UMLS:C0242383|NIFSTD:birnlex_12812|EFO:0001365|ICD9:362.50|ICD10:H35.30|NCIT:C25416|DOID:4448|NCIT:C84391|OMIMPS:603075 owl:Class HGNC:27424 biolink:NamedThing RBM20 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004791 biolink:NamedThing thymus trabecula tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000440 biolink:NamedThing trabecula tmpaxzxjjyw_mondo_relaxed.owl owl:Class PO:0009009 biolink:NamedThing plant embryo A whole plant (PO:0000003) that participates in the plant embryo stage (PO:0007631). tmpaxzxjjyw_mondo_relaxed.owl embryo (broad)|embrión (Spanish, exact)|germ (related)|植物胚 (Japanese, exact) PO_GIT:92 A plant embryo is generally formed after the first division of a plant zygote (PO:0000423), but in the case of a nucellar (adventitious) plant embryo (PO:0004537), somatic plant embryo (PO:0025302), microspore-derived cultured plant embryo (PO:0025305), and other embryos that arise through apogamy, it begins after the division of a single cell that is not a zygote. The end of the embryo stage varies among taxa; the beginning of a seed germination stage (PO:0007057) in seed plants, formation of the first vascular leaf (PO:0009025) in pteridophytes, the beginning of development of a sporangium (PO:0025094) in bryophytes, or the beginning of the formation of a plant organ (PO:0009008) such as a root (PO:0009005), shoot axis (PO:0025029), or vascular leaf (PO:0009025) in a cultured plant embryo (PO:0000010). plant_anatomy owl:Class PO:0000003 biolink:NamedThing whole plant A plant structure (PO:0005679) which is a whole organism. tmpaxzxjjyw_mondo_relaxed.owl colony (related)|tree (narrow)|frutices (narrow)|woody clump (narrow)|clonal colony (related)|genet (broad)|frutex (narrow)|prothallus (narrow)|gametophyte (narrow)|planta entera (Spanish, exact)|seedling (narrow)|ramet (broad)|prothalli (narrow)|vine (narrow)|liana (narrow)|suffrutex (narrow)|prothallium (narrow)|shrub (narrow)|suffrutices (narrow)|bush (narrow)|herb (narrow)|sporophyte (narrow)|植物体全体 (Japanese, exact) PO_GIT:538|PO_GIT:69 Examples include plant embryo (PO:0009009), megagametophyte (PO:0025279) and microgametophyte (PO:0025280). plant_anatomy owl:Class MONDO:0002466 biolink:NamedThing eye carcinoma A carcinoma that arises from epithelial cells of the eye tmpaxzxjjyw_mondo_relaxed.owl eyeball of camera-type eye carcinoma|carcinoma of the eye|carcinoma of eyeball of camera-type eye|carcinoma of eye|ocular carcinoma|eye carcinoma DOID:295|UMLS:C0848866|NCIT:C6079 owl:Class MONDO:0002236 biolink:NamedThing ocular cancer A benign or malignant neoplasm affecting the structures of the eye. tmpaxzxjjyw_mondo_relaxed.owl eye cancer|eye neoplasm, malignant|neoplasm of eye proper|cancer of the eye|malignant eye tumor|eyeball of camera-type eye cancer|malignant ocular tumor|cancer of eye|ocular tumor|malignant neoplasm of eyeball of camera-type eye|neoplasm of eye|malignant ocular neoplasm|malignant neoplasm of the eye|malignant tumor of the eye|malignant eyeball of camera-type eye neoplasm|malignant tumor of eye|eye neoplasm|cancer of eyeball of camera-type eye|malignant neoplasm of eye|malignant eye neoplasm NCIT:C4767|MESH:D005134|ICD9:190.8|NCIT:C3030|ICD9:239.89|SCTID:371486001|DOID:2174 Editor note: check to see whether structure is eye or eye + adnexa owl:Class MONDO:0001373 biolink:NamedThing urinary bladder posterior wall cancer tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of posterior wall of urinary bladder ICD9:188.4|ICD10:C67.4|DOID:11811|UMLS:C0153612|SCTID:188243001 owl:Class MONDO:0001187 biolink:NamedThing urinary bladder cancer A primary or metastatic malignant neoplasm involving the bladder. tmpaxzxjjyw_mondo_relaxed.owl cancer of urinary bladder|malignant neoplasm, urinary bladder|malignant tumor of bladder|malignant tumor of urinary bladder|malignant tumor of the urinary bladder|malignant tumor of the bladder|malignant neoplasm of urinary bladder|urinary bladder cancer|malignant neoplasm of bladder|urinary bladder malignant neoplasm|malignant urinary bladder tumor|malignant neoplasm, bladder|malignant bladder tumor|urinary bladder malignant tumor|tumor of the bladder|malignant bladder neoplasm|malignant tumor, urinary bladder|malignant neoplasm of the urinary bladder|malignant urinary bladder neoplasm|malignant neoplasm of the bladder UMLS:C0005684|ICD10:C67|OMIM:109800|NCIT:C2901|NCIT:C9334|UMLS:C0005695|KEGG:05219|DOID:11054|ICD9:188.8|SCTID:126885006|ICD9:188.9|Orphanet:157980|ICD9:188|ICD10:C67.9|SCTID:399326009 owl:Class GO:0048468 biolink:NamedThing cell development The process whose specific outcome is the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpaxzxjjyw_mondo_relaxed.owl terminal differentiation owl:Class GO:0048856 biolink:NamedThing anatomical structure development The biological process whose specific outcome is the progression of an anatomical structure from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure, whatever form that may be including its natural destruction. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. tmpaxzxjjyw_mondo_relaxed.owl development of an anatomical structure owl:Class MONDO:0013534 biolink:NamedThing apolipoprotein c-III deficiency tmpaxzxjjyw_mondo_relaxed.owl hyperalphalipoproteinemia 2|apolipoprotein c-III deficiency OMIM:614028|Orphanet:79506|MESH:C566270|DOID:0111370|UMLS:C3151467 owl:Class MONDO:0019052 biolink:NamedThing inborn errors of metabolism An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function. tmpaxzxjjyw_mondo_relaxed.owl inborn disorders of metabolism|rare inborn errors of metabolism|inborn metabolic disorder|inborn error of metabolism|inherited disorder of metabolism|congenital metabolic disorder|inborn metabolism disorder|inherited disorders of metabolism|rare metabolic disease|congenital metabolism disorder|hereditary metabolic disease|inborn errors of metabolism|rare inherited metabolic disorder|inherited metabolic disorder|metabolic hereditary disorder UMLS:C0025517|SCTID:86095007|MESH:D008659|UMLS:C0025521|Orphanet:68367|MESH:D008661|MedDRA:10062018|MedDRA:10058097|NCIT:C34816|DOID:655 https://github.com/monarch-initiative/mondo/issues/1483 owl:Class GO:0030057 biolink:NamedThing desmosome A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism. tmpaxzxjjyw_mondo_relaxed.owl macula adherens|spot desmosome owl:Class GO:0005911 biolink:NamedThing cell-cell junction A cell junction that forms a connection between two or more cells in a multicellular organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. tmpaxzxjjyw_mondo_relaxed.owl intercellular junction owl:Class MONDO:0022557 biolink:NamedThing behrens baumann dust syndrome tmpaxzxjjyw_mondo_relaxed.owl oculo-cerebral dysplasia MESH:C537670 owl:Class MONDO:0016073 biolink:NamedThing syndromic microphthalmia A microphthalmia that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia, syndromic|syndromic microphthalmia|syndrome associated with microphthalmia UMLS:CN226833|DOID:0080636|Orphanet:202948|OMIMPS:309800 owl:Class UBERON:0006183 biolink:NamedThing mesonephric glomerular capillary tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004212 biolink:NamedThing glomerular capillary tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008395 biolink:NamedThing Ruvalcaba syndrome Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay. tmpaxzxjjyw_mondo_relaxed.owl Ruvalcaba syndrome UMLS:C0265248|ICD10:Q87.8|SCTID:3073006|MESH:C579395|OMIM:180870|GARD:0004748|Orphanet:3121|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/4748/ruvalcaba-syndrome owl:Class MONDO:0014129 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2R Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported. tmpaxzxjjyw_mondo_relaxed.owl LGMD2R|muscular dystrophy, limb-girdle, type 2R|autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES|DES autosomal recessive limb-girdle muscular dystrophy OMIM:615325|ICD10:G71.0|UMLS:C3809137|DOID:0110286|Orphanet:363543 owl:Class MONDO:0016187 biolink:NamedThing qualitative or quantitative defects of desmin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209041 owl:Class MONDO:0010738 biolink:NamedThing spondylometaphyseal dysplasia, Golden type Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. tmpaxzxjjyw_mondo_relaxed.owl spondylometaphyseal dysplasia X-linked|X-linked spondylometaphyseal dysplasia|spondylometaphyseal dysplasia, X-linked|spondylometaphyseal dysplasia, Richmond type|spondylometaphyseal dysplasia Richmond type OMIM:313420|ICD10:Q77.8|UMLS:C0796172|MESH:C563124|Orphanet:168544|GARD:0008343 owl:Class MONDO:0016763 biolink:NamedThing spondylometaphyseal dysplasia Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. tmpaxzxjjyw_mondo_relaxed.owl spondylometaphyseal dysplasia ICD10:Q77.8|OMIMPS:184255|Orphanet:254 owl:Class MONDO:0014723 biolink:NamedThing PMP22-RAI1 contiguous gene duplication syndrome tmpaxzxjjyw_mondo_relaxed.owl 17p11.2p12 microduplication syndrome|dup(17)(p11.2p12)|YUAN-Harel-Lupski syndrome|Yuan-Harel-Lupski syndrome|YUHAL|trisomy 17p11.2p12|trisomy 17p11.2-p12 UMLS:C4225255|OMIM:616652|Orphanet:477817 owl:Class MONDO:0000508 biolink:NamedThing syndromic intellectual disability A intellectual disability that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic intellectual disability|syndrome associated with intellectual disability DOID:0050888|OMIM:300860|OMIM:300486|UMLS:CN225415|OMIM:309583 owl:Class MONDO:0043197 biolink:NamedThing ruvalcaba churesigaew myhre syndrome tmpaxzxjjyw_mondo_relaxed.owl onset of senility in the early teens, atrophic skin, hypogonadism, retinal and vascular sclerosis GARD:0004747|UMLS:C2931437|MESH:C537190 owl:Class GO:0004336 biolink:NamedThing galactosylceramidase activity Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine. tmpaxzxjjyw_mondo_relaxed.owl cerebroside galactosidase activity|galactocerebroside-beta-D-galactosidase activity|galactosylcerebrosidase activity|D-galactosyl-N-acylsphingosine galactohydrolase activity|galactocerebroside galactosidase activity|beta-galactosylceramidase activity|cerebroside beta-galactosidase activity|lactosylceramidase activity|galactosylceramide beta-galactosidase activity|beta-galactocerebrosidase activity|galcerase activity|galactocerebrosidase activity|galactocerebroside beta-galactosidase activity|galactosylceramidase I|lactosylceramidase I|ceramide galactosidase activity owl:Class GO:0004553 biolink:NamedThing hydrolase activity, hydrolyzing O-glycosyl compounds Catalysis of the hydrolysis of any O-glycosyl bond. tmpaxzxjjyw_mondo_relaxed.owl O-glucosyl hydrolase activity owl:Class MONDO:0005524 biolink:NamedThing sweat gland carcinoma A carcinoma arising from the sweat glands. Representative examples include tubular carcinoma, spiradenocarcinoma, eccrine carcinoma, hidradenocarcinoma, and apocrine carcinoma. tmpaxzxjjyw_mondo_relaxed.owl carcinoma, sweat gland, malignant|sweat gland carcinoma|carcinoma of the sweat gland|carcinoma of sweat gland|sweat gland carcinoma/apocrine eccrine carcinoma SCTID:254708001|DOID:5667|UMLS:C1412016|NCIT:C6938|ONCOTREE:AECA|ICDO:8400/3|EFO:0005591 owl:Class MONDO:0002206 biolink:NamedThing sweat gland cancer A malignant neoplasm that affects the sweat glands. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the sweat gland|cancer of sweat gland|sweat gland neoplasms, malignant|sweat gland cancer|malignant neoplasm of sweat gland|malignant tumor of the sweat gland|malignant sweat gland neoplasm|malignant tumor of sweat gland DOID:2095|UMLS:C1321904|NCIT:C4810|ICD10:C44 owl:Class MONDO:0012238 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene. tmpaxzxjjyw_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2|PEOA2|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4|progressive external ophthalmoplegia, autosomal dominant 2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2|SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions UMLS:C1836460|MESH:C563750|Orphanet:254892|DOID:0111517|OMIM:609283 owl:Class MONDO:0008003 biolink:NamedThing autosomal dominant progressive external ophthalmoplegia Autosomal dominant form of progressive external ophthalmoplegia. tmpaxzxjjyw_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1|progressive external ophthalmoplegia, autosomal dominant|adPEO|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|PEOA1 OMIM:609286|ICD10:H49.4|Orphanet:254892|OMIM:157640|OMIM:610131|OMIM:609283|OMIM:613077|MESH:C563575|UMLS:CN202062 owl:Class ECTO:1000000 biolink:NamedThing exposure to environmental condition A exposure event involving the interaction of an exposure receptor to the condition of environmental condition. tmpaxzxjjyw_mondo_relaxed.owl environmental condition exposure owl:Class ECTO:0010003 biolink:NamedThing exposure to environmental physical object quality A exposure event involving the interaction of an exposure receptor to physical object quality. tmpaxzxjjyw_mondo_relaxed.owl physical object quality exposure owl:Class MONDO:0003752 biolink:NamedThing frontal sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the frontal sinus. It is classified as inverted papilloma and oncocytic papilloma. tmpaxzxjjyw_mondo_relaxed.owl Schneiderian papilloma of frontal sinus|Schneiderian papilloma of the frontal sinus|frontal sinus Schneiderian papilloma DOID:6054|NCIT:C6837|UMLS:C1333645 owl:Class MONDO:0021483 biolink:NamedThing benign neoplasm of frontal sinus A benign neoplasm that involves the frontal sinus. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of frontal sinus|benign frontal sinus neoplasm|benign frontal sinus tumor|benign tumor of the frontal sinus|benign neoplasm of the frontal sinus|frontal sinus benign neoplasm UMLS:C0345674|NCIT:C4420|SCTID:92115005|ICD9:212.0 owl:Class HP:0008070 biolink:NamedThing Sparse hair Reduced density of hairs. tmpaxzxjjyw_mondo_relaxed.owl Hypotrichosis|Marked hypotrichosis|Thin, sparse hair|Sparse hair|Sparse hair since birth|Decreased hair growth on body|Decreased hair growth SNOMEDCT_US:56558005|SNOMEDCT_US:53602002|UMLS:C1860844|MSH:D007039|UMLS:C1837770|MEDDRA:10021126|UMLS:C0020678 This term applies if the number of hair shafts per unit area is reduced. The term fine hair is used to describe hair with a reduced diameter. peter 2008-04-02T04:11:00Z HP:0002551|HP:0001006|HP:0004522|HP:0004525|HP:0004874|HP:0002291|HP:0002237|HP:0004538 human_phenotype owl:Class HP:0011362 biolink:NamedThing Abnormal hair quantity An abnormal amount of hair. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of hair density|Abnormal hair quantity UMLS:C4023397|UMLS:C4023401 peter 2012-03-01T08:46:57Z HP:0002115|HP:0011357 human_phenotype owl:Class NCBITaxon:84529 biolink:NamedThing Metagonimus yokogawai tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:1193293 ncbi_taxonomy owl:Class NCBITaxon:84527 biolink:NamedThing Metagonimus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:590 biolink:NamedThing Salmonella tmpaxzxjjyw_mondo_relaxed.owl PMID:15653930|PMID:15653929|PMID:10319519|GC_ID:11|PMID:3231714|PMID:10939679|PMID:9731304|PMID:12072558 ncbi_taxonomy owl:Class NCBITaxon:543 biolink:NamedThing Enterobacteriaceae tmpaxzxjjyw_mondo_relaxed.owl gamma-3 proteobacteria|enterobacteria|Enterobacteraceae PMID:27620848|PMID:10555334|PMID:16166704|PMID:10555323|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0023188 biolink:NamedThing Freiberg disease Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient. tmpaxzxjjyw_mondo_relaxed.owl Freiberg-Kohler syndrome|Osteochondrosis of the metatarsal head, usually the second|Kohler's second disease|Freiberg's infraction|second metatarsal osteochondrosis|Freiberg's disease UMLS:C0264099|MESH:C535636|SCTID:28466007|GARD:0002380 https://rarediseases.info.nih.gov/diseases/2380/freibergs-disease owl:Class MONDO:0044989 biolink:NamedThing foot disorder A disease or disorder that involves the pes. tmpaxzxjjyw_mondo_relaxed.owl foot disease|pes disease|disorder of foot|pes disease or disorder|disorder of pes|disease of pes|disease or disorder of pes UMLS:C0016510|MESH:D005534|SCTID:118932009 owl:Class MONDO:0020053 biolink:NamedThing total autosomal monosomy tmpaxzxjjyw_mondo_relaxed.owl 2022-04-01 ICD10:Q93.0|Orphanet:98141|ICD10:Q93.1 Reason: grouping class. Term to consider: MONDO:0020639 MONDO:0020639 owl:Class MONDO:0015153 biolink:NamedThing autosomal monosomy tmpaxzxjjyw_mondo_relaxed.owl autosomal deletion 2022-04-01 ICD10:Q93.5|ICD10:Q93.0|ICD10:Q93.4|Orphanet:102020|ICD10:Q93.6|ICD10:Q93.7|ICD10:Q93.2|ICD10:Q93.9|ICD10:Q93.8|ICD10:Q93.3|ICD10:Q93.1 Reason: grouping class. Term to consider: none owl:Class MONDO:0011362 biolink:NamedThing myopathy, myofibrillar, 9, with early respiratory failure tmpaxzxjjyw_mondo_relaxed.owl hereditary inclusion body myopathy with early respiratory failure|myopathy, proximal, with early respiratory muscle involvement|HMERF|distal myopathy with early respiratory muscle involvement|Edström myopathy|HIBM-ERF|myofibrillar myopathy with early respiratory failure|Edstrom myopathy|HMERF-ERF|myopathy, distal, with early respiratory failure, autosomal dominant|hereditary proximal myopathy with early respiratory failure|ADMERF DOID:0111188|UMLS:C1863599|OMIM:603689|OMIM:607569|MESH:C564377|MESH:C566343|Orphanet:34521|GARD:0012591|ICD10:G71.0|UMLS:C4518808|UMLS:C1843633|SCTID:702373006|SCTID:733490006|Orphanet:178464 https://rarediseases.info.nih.gov/diseases/12591/hereditary-proximal-myopathy-with-early-respiratory-failure owl:Class MONDO:0016112 biolink:NamedThing inclusion myopathy tmpaxzxjjyw_mondo_relaxed.owl cytoplasmic body myopathy GARD:0001658|ICD10:G71.8|Orphanet:206662 https://rarediseases.info.nih.gov/diseases/1658/cytoplasmic-body-myopathy owl:Class MONDO:0010679 biolink:NamedThing Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, Duchenne type|Duchenne muscular dystrophy|DMD|muscular dystrophy, Duchenne|severe dystrophinopathy, Duchenne type|muscular dystrophy, pseudohypertrophic progressive, Duchenne type GARD:0006291|OMIM:310200|DOID:11723|MESH:D020388|MedDRA:10013801|UMLS:C0013264|SCTID:76670001|Orphanet:98896|ICD10:G71.0|NCIT:C75482 https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy owl:Class MONDO:0016899 biolink:NamedThing Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. tmpaxzxjjyw_mondo_relaxed.owl severe dystrophinopathy, Duchenne and Becker type UMLS:CN227033|ICD10:G71.0|Orphanet:262 owl:Class GO:1903061 biolink:NamedThing positive regulation of protein lipidation Any process that activates or increases the frequency, rate or extent of protein lipidation. tmpaxzxjjyw_mondo_relaxed.owl up regulation of protein amino acid lipidation|upregulation of protein amino acid lipidation|activation of protein amino acid lipidation|upregulation of protein lipidation|positive regulation of lipid:protein modification|up regulation of lipid:protein modification|up regulation of protein lipidation|up-regulation of protein amino acid lipidation|up-regulation of protein lipidation|activation of protein lipidation|positive regulation of protein amino acid lipidation|upregulation of lipid:protein modification|activation of lipid:protein modification|up-regulation of lipid:protein modification owl:Class GO:1903059 biolink:NamedThing regulation of protein lipidation Any process that modulates the frequency, rate or extent of protein lipidation. tmpaxzxjjyw_mondo_relaxed.owl regulation of lipid:protein modification|regulation of protein amino acid lipidation owl:Class MONDO:0010753 biolink:NamedThing cardiac valvular dysplasia, X-linked tmpaxzxjjyw_mondo_relaxed.owl myxomatous valvular dystrophy, X-linked|cardiac valvular dysplasia, X-linked|XMVD|valvular heart disease, congenital|CVD1|congenital valvular dysplasia GARD:0001096|Orphanet:1864|ICD10:Q24.8|SCTID:718128009|OMIM:314400|MESH:C535576|DOID:0111765|Orphanet:555877 https://rarediseases.info.nih.gov/diseases/1096/cardiac-valvular-dysplasia-x-linked owl:Class MONDO:0020289 biolink:NamedThing congenital tricuspid malformation tmpaxzxjjyw_mondo_relaxed.owl HP:0001702|ICD10:Q22.8|ICD10:Q22.9|ICD10:Q22.4|Orphanet:98721|ICD10:Q22.5 owl:Class MONDO:0008250 biolink:NamedThing isolated growth hormone deficiency type II tmpaxzxjjyw_mondo_relaxed.owl Growth hormone deficiency, isolated autosomal dominant|autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency|isolated growth hormone deficiency type 2|pituitary dwarfism due to isolated Growth hormone deficiency, autosomal dominant|IGHD II|pituitary dwarfism due to isolated growth hormone deficiency autosomal dominant|congenital IGHD type II|congenital isolated growth hormone deficiency type II|Growth hormone deficiency, isolated, autosomal dominant|isolated growth hormone deficiency, type II|IGHD 2|congenital isolated GH deficiency type II|isolated Growth hormone deficiency, type 2|autosomal dominant isolated growth hormone deficiency|IGHD2 DOID:0060872|Orphanet:231679|OMIM:173100|SCTID:237687003|Orphanet:631|ICD10:E23.0|UMLS:C0271567|GARD:0001696|MESH:C562704 https://rarediseases.info.nih.gov/diseases/1696/isolated-growth-hormone-deficiency-type-2 owl:Class MONDO:0000050 biolink:NamedThing isolated congenital growth hormone deficiency tmpaxzxjjyw_mondo_relaxed.owl familial isolated growth hormone deficiency|IGHD|ICGHD|isolated growth hormone deficiency|congenital isolated GH deficiency|non-acquired isolated growth hormone deficiency|congenital IGHD|congenital isolated growth hormone deficiency OMIM:262650|OMIMPS:262400|Orphanet:631|MedDRA:10035083|ICD10:E23.0|OMIM:262400|SCTID:2109003|OMIM:300123|OMIM:612781|OMIM:173100|OMIM:307200|GARD:0012556|DOID:0060870 owl:Class MONDO:0003049 biolink:NamedThing ovarian large-cell neuroendocrine carcinoma A carcinoma that arises from the ovary and is characterized by the presence of large malignant cells exhibiting neuroendocrine differentiation. The prognosis is poor. tmpaxzxjjyw_mondo_relaxed.owl ovarian non-small-cell type neuroendocrine carcinoma|large cell neuroendocrine carcinoma of ovary|ovarian large cell NEC|ovary large cell neuroendocrine carcinoma|large-cell neuroendocrine carcinoma of the ovary|non-small-cell type neuroendocrine carcinoma of the ovary|large-cell neuroendocrine carcinoma of ovary|non-small-cell type neuroendocrine carcinoma of ovary|ovarian large cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma of the ovary NCIT:C5238|DOID:4555|UMLS:C1335174 owl:Class MONDO:0005057 biolink:NamedThing large cell neuroendocrine carcinoma A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas. tmpaxzxjjyw_mondo_relaxed.owl LCNEC|large cell NEC|large cell neuroendocrine carcinoma|large-cell neuroendocrine carcinoma EFO:0000563|ONCOTREE:LUNE|DOID:0050872|UMLS:C1265996|ICDO:8013/3|NCIT:C6875 owl:Class MONDO:0011744 biolink:NamedThing primary intraosseous venous malformation Primary intraosseous venous malformation is a rare, genetic vascular anomaly characterized by severe blood vessel expansion (most frequently within the craniofacial bones) with painless bone enlargement (usually of mandibule, maxilla and/or orbital, nasal, and frontal bones), typically resulting in facial asymmetry and contour deformation. Midline abnormalities, such as diastasis recti, supraumbilical raphe, and hiatus hernia, are commonly associated. Additional features reported include gingival bleeding, ectopic tooth eruption, exophthalmos, loss of vision, nausea, and vomiting. tmpaxzxjjyw_mondo_relaxed.owl osseous venous malformation|hemangioma, intraosseous|vascular malformation osseous|intraosseous hemangioma|vascular malformation, primary intraosseous MESH:C564648|SCTID:764100007|UMLS:C1847197|OMIM:606893|ICD10:D18.0|Orphanet:140436 owl:Class MONDO:0016524 biolink:NamedThing congenital vascular bone syndrome An alteration in limb growth caused by congenital vascular malformations in childhood tmpaxzxjjyw_mondo_relaxed.owl Orphanet:235832 Editor note: see https://github.com/monarch-initiative/mondo/issues/114 owl:Class MONDO:0015824 biolink:NamedThing oculomaxillofacial dysostosis Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. tmpaxzxjjyw_mondo_relaxed.owl oculomaxillofacial dysplasia with oblique facial clefts|Richieri Costa Gorlin syndrome|Richieri-Costa-Gorlin syndrome|oblique facial clefts Orphanet:1794|OMIM:600251|SCTID:763830009|UMLS:C1838348|ICD10:Q75.1|GARD:0004046|MESH:C537736 owl:Class MONDO:0018751 biolink:NamedThing genetic otorhinolaryngologic disease An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic otorhinolaryngologic disease Orphanet:466084|UMLS:CN242186 owl:Class MONDO:0010230 biolink:NamedThing intellectual disability, X-linked 23 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked 23|MRX23|intellectual disability, X-linked 23 MESH:C563144|OMIM:300046|UMLS:C0796229 owl:Class MONDO:0019181 biolink:NamedThing non-syndromic X-linked intellectual disability Nonspecific X-linked intellectual deficiencies (MRX) belong to the family of sex-linked intellectual deficiencies (XLMR). In contrast to syndromic or specific X-linked intellectual deficiencies (MRXS), which also present with associated physical, neurological and/or psychiatric manifestations, intellectual deficiency is the only symptom of MRX. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic X-linked intellectual disability|mental retardation, X-linked, nonsyndromic|non-syndromic X-linked intellectual disability|intellectual disability, nonsyndromic, X-linked|non-specific X-linked mental retardation|non-syndromic intellectual disability, X-linked|X-linked non-specific intellectual disability|isolated X-linked intellectual disability|non-specific X-linked intellectual disability|mental retardation, nonsyndromic, X-linked|intellectual disability, X-linked, nonsyndromic|X-linked non-syndromic intellectual disability OMIM:300114|OMIM:300983|OMIM:300271|OMIM:300716|OMIM:300454|OMIM:300505|OMIM:300324|OMIM:300802|OMIM:300984|OMIM:300928|DOID:0050776|OMIM:300372|OMIM:300387|Orphanet:777|OMIM:309549|OMIM:300498|OMIM:300355|OMIM:300803|MESH:C564490|UMLS:C3501611|OMIM:300919|OMIM:300518|OMIM:300062|OMIM:300844|OMIM:300558|OMIM:300504|OMIM:300419|OMIM:300428|OMIM:300849|OMIM:300705|OMIM:300210|OMIM:300436|OMIM:300850|OMIM:300046|OMIM:300852|OMIM:300433|OMIM:300851|OMIM:309530|OMIM:300115|OMIM:300047|OMIM:300848|OMIMPS:309530|OMIM:300143|GARD:0003542|OMIM:300978 owl:Class MONDO:0043277 biolink:NamedThing mosaic trisomy 6 Trisomy 6 is a rare prenatal finding. Trisomy 6 conceptions have not been observed in the large case reports of chromosomal mosaicism detected during chorionic villus sampling (Hahnemann & Vejerslev 1997). tmpaxzxjjyw_mondo_relaxed.owl trisomy 6 mosaicism|trisomy 6 GARD:0007815|SCTID:205647005|NCIT:C36475 Editor notes: TODO DPs for partial/complete/mosaic owl:Class MONDO:0700013 biolink:NamedThing chromosome 6 disorder Chromosomal disorder in which chromosome 6 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0001930 biolink:NamedThing acute cholangitis Cholangitis that is both sudden in onset and of a relatively short duration. tmpaxzxjjyw_mondo_relaxed.owl cholangitis, acute|acute cholangitis DOID:14271|NCIT:C35334|SCTID:6215006|UMLS:C0267917 owl:Class MONDO:0020683 biolink:NamedThing acute disease Disease having a short and relatively severe course. tmpaxzxjjyw_mondo_relaxed.owl disease, acute|acute diseases|acute disease UMLS:C0001314|ICD9:799.89|SCTID:2704003|MESH:D000208 owl:Class MONDO:0002072 biolink:NamedThing melanotic neuroectodermal tumor A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course. tmpaxzxjjyw_mondo_relaxed.owl MNTI|pigmented neuroectodermal tumor|pigmented neuroectodermal tumour of infancy|melanotic Progonoma|melanotic neuroectodermal tumor of infancy|melanotic neuroectodermal tumor of infancy (morphologic abnormality)|retinal anlage neoplasm|infantile melanotic neuroectodermal neoplasm|melanotic neuroectodermal tumor (morphologic abnormality) EFO:1001038|DOID:166|ICDO:9363/0|SCTID:404042005|UMLS:C0206094|MESH:D017600|NCIT:C3717 owl:Class MONDO:0005462 biolink:NamedThing primitive neuroectodermal tumor A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors. tmpaxzxjjyw_mondo_relaxed.owl neuroectodermal tumor|primitive neuroectodermal tumor|primitive neuroectodermal neoplasm|neuroectodermal neoplasm|PNET|neuroepithelioma|primitive neuroectodermal tumor (PNET) MESH:D017599|ICDO:9473/3|DOID:171|ONCOTREE:PNET|NCIT:C3716|EFO:0005235|ICDO:9503/3 Editor note: TODO check relationship to neuroepithelioma owl:Class MONDO:0009330 biolink:NamedThing hemangiopericytoma, malignant An uncommon malignant neoplasm arising from pericytes. Distinction between benign and malignant hemangiopericytoma may be difficult or even impossible on morphologic grounds alone. tmpaxzxjjyw_mondo_relaxed.owl hemangiopericytoma, malignant|malignant hemangiopericytoma NCIT:C4301|Orphanet:2126|UMLS:C0334542|ICDO:9150/3|MESH:C562740|GARD:0002627|OMIM:234820 owl:Class MONDO:0016238 biolink:NamedThing solitary fibrous tumor Solitary fibrous tumor (SFT) represents a diverse group of ubiquitous rare spindle cell neoplasms that may be benign or malignant and that most frequently arises from the pleura and peritoneum and rarely from other sites such as head and neck, liver and skeletal muscle. SFT may be clinically asymptomatic or may present with enlarging mass, compressive effects depending on the site involved and rarely with paraneoplastic manifestations (osteoarthropathy or hypoglycemia). tmpaxzxjjyw_mondo_relaxed.owl localized fibrous mesothelioma|solitary fibrous tumor/hemangiopericytoma|solitary fibrous tumor|submesothelial fibroma|localized fibrous tumor|SFT|hemangiopericytoma ICD10:D21.9|NCIT:C7634|MESH:D054364|Orphanet:2126|MedDRA:10018825|ONCOTREE:SFT|UMLS:C1266119|ICDO:8815/1|ICD9:238.1|ICDO:8815/0|ICDO:9051/0|OMIM:234820 owl:Class UBERON:0002092 biolink:NamedThing brain dura mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003547 biolink:NamedThing brain meninx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006688 biolink:NamedThing byssinosis An occupational lung disorder caused by exposure to cotton dust. It occurs more commonly in workers in the textile industry. Signs and symptoms include chest tightness, cough and wheezing. The symptoms tend to get worse at the beginning of the week and subside by the end of the week. tmpaxzxjjyw_mondo_relaxed.owl cotton mill fever|stripper's asthma|flax-dressers' disease|textile worker's lung|Monday morning fever|cotton dust pneumoconiosis|pneumoconiosis from cotton dust NCIT:C84605|GARD:0005976|UMLS:C0006542|SCTID:13151001|ICD10:J66.0|MedDRA:10006822|DOID:10323|EFO:1000851|UMLS:C2242894|MESH:D002095|ICD9:504 https://rarediseases.info.nih.gov/diseases/5976/byssinosis owl:Class MONDO:0015926 biolink:NamedThing pneumoconiosis An occupational lung disorder caused by inhalation of dust particles. It is characterized by bilateral interstitial lung infiltrates. Representative examples include asbestosis, silicosis, anthracosis, and talc pneumoconiosis. tmpaxzxjjyw_mondo_relaxed.owl coal worker's pneumoconiosis|Black lung disease NCIT:C26861|UMLS:C0032273|MedDRA:10035653|ICD9:505|ICD10:J64|SCTID:40122008|DOID:10316|MESH:D011009|GARD:0008356|Orphanet:182098 owl:Class MONDO:0022519 biolink:NamedThing autoimmune myocarditis Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended. tmpaxzxjjyw_mondo_relaxed.owl GARD:0009519 owl:Class MONDO:0004496 biolink:NamedThing myocarditis Myocarditis is a condition that is characterized by inflammation of the heart muscle (myocardium). Some affected people have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. Myocarditis can be caused by a variety of factors including infections (viral, bacterial, parasitic, and fungal), allergic reactions to certain medications, and exposure to certain chemicals. It can also be associated with other inflammatory conditions such as lupus, Wegener's granulomatosis, giant cell arteritis and Takayasu's arteritis. Most cases occur sporadically in people with no family history of the condition. Treatment aims to address the underlying cause of the condition. Medications and rarely, a heart transplant may be needed if the heart muscle becomes weak. tmpaxzxjjyw_mondo_relaxed.owl inflammation of myocardium|myocardial inflammation|myocardium inflammation|myocardial inflammation (finding) SCTID:50920009|ICD10:I51.4|DOID:820|KEGG:05416|ICD10:I40|GARD:0007137|ICD9:429.0|NCIT:C34831|MESH:D009205|UMLS:C0027059 https://rarediseases.info.nih.gov/diseases/7137/myocarditis owl:Class MONDO:0014589 biolink:NamedThing maturity-onset diabetes of the young type 13 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KCNJ11 gene. tmpaxzxjjyw_mondo_relaxed.owl MODY, type 13|maturity-onset diabetes of the young (disease) caused by mutation in KCNJ11|MODY type 13|KCNJ11 maturity-onset diabetes of the young (disease)|MODY13|maturity-onset diabetes of the young, type 13 DOID:0111110|OMIM:616329|UMLS:C4225365 owl:Class MONDO:0018911 biolink:NamedThing maturity-onset diabetes of the young MODY (maturity-onset diabetes of the young) is a rare, familial, clinically and genetically heterogeneous form of diabetes characterized by young age of onset (generally 10-45 years of age) with maintenance of endogenous insulin production, lack of pancreatic beta-cell autoimmunity, absence of obesity and insulin resistance and extra-pancreatic manifestations in some subtypes. tmpaxzxjjyw_mondo_relaxed.owl Mason-type diabetes|maturity-onset diabetes of the young (disease)|MODY|Mason type diabetes|maturity-onset diabetes of the young|maturity onset diabetes of the young maturity-onset diabetes of the young (disease) SCTID:609561005|OMIM:125850|OMIM:613375|UMLS:C0342276|OMIM:606391|OMIM:606392|DOID:0050524|ICD10:E11.9|OMIM:609812|OMIM:616329|HP:0004904|KEGG:04950|ICD10:E11.8|OMIM:606394|OMIM:610508|OMIM:616511|Orphanet:552|OMIM:125851|OMIM:612225|NCIT:C114769|OMIM:600496|OMIM:613370|MESH:C562772|GARD:0003697 owl:Class MONDO:0020601 biolink:NamedThing mosquito-borne viral encephalitis Viral encephalitis that is transmitted by mosquitos. tmpaxzxjjyw_mondo_relaxed.owl mosquito-borne viral encephalitis NCIT:C34823 owl:Class MONDO:0006009 biolink:NamedThing viral encephalitis Encephalitis resulting from viral infection. tmpaxzxjjyw_mondo_relaxed.owl Viruses caused encephalitis|viral encephalitis|Viruses encephalitis NCIT:C34576|NCIT:C35302|SCTID:186499007|SCTID:34476008|Orphanet:98252|EFO:0007538|MedDRA:10058805|DOID:646|UMLS:C0243010 Editor note: we place the Orphanet class here as it is implicitly viral owl:Class UBERON:0006642 biolink:NamedThing muscle layer of oviduct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006660 biolink:NamedThing muscular coat tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001242 biolink:NamedThing intestinal mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004786 biolink:NamedThing gastrointestinal system mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010337 biolink:NamedThing mandibular process mesenchyme from head mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006904 biolink:NamedThing head mesenchyme from mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002190 biolink:NamedThing vulvar syringoma A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis. tmpaxzxjjyw_mondo_relaxed.owl mammalian vulva syringoma|vulvar syringoma|syringoma of mammalian vulva NCIT:C40311|DOID:2064|UMLS:C1520099 owl:Class MONDO:0021489 biolink:NamedThing benign neoplasm of sweat gland A benign neoplasm that involves the sweat gland. tmpaxzxjjyw_mondo_relaxed.owl sweat gland benign neoplasm|benign tumor of sweat gland|benign tumor of the sweat gland|sweat gland neoplasm, benign|benign sweat gland neoplasm|benign neoplasm of the sweat gland|benign sweat gland tumor NCIT:C4879|SCTID:92422009|UMLS:C0684354 owl:Class CHEBI:37838 biolink:NamedThing carboacyl group A carboacyl group is a group formed by loss of at least one OH from the carboxy group of a carboxylic acid. tmpaxzxjjyw_mondo_relaxed.owl carboacyl groups|carboxylic acyl groups|carboxylic acyl group owl:Class CHEBI:22221 biolink:NamedThing acyl group An organic group formed by removing one or more hydroxy groups from an oxoacid that has the general structure RkE(=O)l(OH)m (l =/= 0). Although the term is almost always applied to organic compounds, with carboxylic acid as the oxoacid, acyl groups can in principle be derived from other types of acids such as sulfonic acids or phosphonic acids. tmpaxzxjjyw_mondo_relaxed.owl alkanoyl|acyl group|acyl groups|groupe acyle|alkanoyl group owl:Class HGNC:14135 biolink:NamedThing PIGQ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011976 biolink:NamedThing lipodystrophy-intellectual disability-deafness syndrome Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. tmpaxzxjjyw_mondo_relaxed.owl Rajab-Spranger syndrome|lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones|lipodystrophy, generalized, with intellectual disability, deafness, short stature, and slender bones OMIM:608154|MESH:C564283|SCTID:721973006|Orphanet:50811|ICD10:Q78.8 owl:Class MONDO:0015333 biolink:NamedThing progeroid syndrome A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199363|Orphanet:139033 owl:Class MONDO:0003383 biolink:NamedThing fallopian tube clear cell adenocarcinoma A rare adenocarcinoma of the fallopian tube composed of malignant glandular epithelium containing clear cells. tmpaxzxjjyw_mondo_relaxed.owl clear cell adenocarcinoma of the fallopian tube|fallopian tube clear cell adenocarcinoma|clear cell adenocarcinoma of fallopian tube|clear cell carcinoma of fallopian tube|fallopian tube clear cell carcinoma|clear cell carcinoma of the fallopian tube DOID:5301|NCIT:C6280|UMLS:C1333591 owl:Class MONDO:0002746 biolink:NamedThing fallopian tube adenocarcinoma A carcinoma that arises from glandular epithelial cells of the fallopian tube tmpaxzxjjyw_mondo_relaxed.owl fallopian tube adenocarcinoma|adenocarcinoma of fallopian tube|adenocarcinoma of the fallopian tube NCIT:C6265|DOID:3706|UMLS:C1333590 owl:Class MONDO:0014259 biolink:NamedThing neuronopathy, distal hereditary motor, type 2D Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene. tmpaxzxjjyw_mondo_relaxed.owl neuropathy, distal hereditary motor, type 2D|FBXO38 neuronopathy, distal hereditary motor|neuronopathy, distal hereditary motor caused by mutation in FBXO38|neuronopathy, distal hereditary motor, type IID|HMN2D|spinal muscular atrophy, distal, autosomal dominant, calf-predominant|HMN 2D DOID:0111210|Orphanet:139525|OMIM:615575 owl:Class MONDO:0015352 biolink:NamedThing distal hereditary motor neuropathy type 2 tmpaxzxjjyw_mondo_relaxed.owl dSMA2|distal spinal muscular atrophy type 2|dHMN2 MESH:C580044|OMIM:613376|Orphanet:139525|ICD10:G12.2|OMIM:615575|OMIM:158590|DOID:0111206|OMIM:608634 owl:Class MONDO:0012794 biolink:NamedThing ANE syndrome ANE syndrome is a rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis. tmpaxzxjjyw_mondo_relaxed.owl anes|alopecia, neurologic defects, and endocrinopathy syndrome|alopecia-progressive neurological defect-endocrinopathy syndrome|ANE syndrome UMLS:C2677535|Orphanet:157954|MESH:C567425|OMIM:612079 owl:Class MONDO:0015770 biolink:NamedThing congenital hypogonadotropic hypogonadism Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH). tmpaxzxjjyw_mondo_relaxed.owl Orphanet:174590|SCTID:722944006|NCIT:C120162|UMLS:C3899503|ICD10:E23.0 owl:Class MONDO:0026767 biolink:NamedThing immunodeficiency 74, COVID-19-related, X-linked tmpaxzxjjyw_mondo_relaxed.owl respiratory insufficiency due to SARS-CoV-2 viral infection|IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED|IMD74|TLR7 deficiency OMIM:301051 owl:Class MONDO:0021094 biolink:NamedThing immunodeficiency disease Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency|immunodeficiency syndrome|immuno-deficiency|immunodeficiency disorder OMIMPS:300755|ICD9:279.3|UMLS:C0021051|NCIT:C3131|SCTID:234532001 owl:Class MONDO:0044811 biolink:NamedThing idiopathic torsion dystonia Torsion dystonia for which no underlying cause has been identified. tmpaxzxjjyw_mondo_relaxed.owl idiopathic torsion dystonia|dystonia musculorum deformans|primary torsion dystonia|Schwalbe disease|dystonia deformans progressiva|Ziehen-oppenheim disease|Idiopathic torsion dystonia SCTID:22451001|ICD9:333.6|NCIT:C34564 owl:Class MONDO:0003441 biolink:NamedThing dystonic disorder A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures. tmpaxzxjjyw_mondo_relaxed.owl dystonia|dystonia disorder|dystonic disease|dystonia disorders|dystonic disorder DOID:543|ICD9:333.90|HP:0001332|ICD10:G24|SCTID:15802004|ICD10:G24.9|MESH:D020821|NCIT:C34563 owl:Class MONDO:0008128 biolink:NamedThing ophthalmoplegia, familial static tmpaxzxjjyw_mondo_relaxed.owl external ophthalmoplegia, nonprogressive, congenital hereditary|ophthalmoplegia, familial static OMIM:165000|MESH:C563500|UMLS:C1833839 owl:Class MONDO:0013338 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate B Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, recessive Intermediate type B|CMTRIB|autosomal recessive intermediate Charcot-Marie-Tooth disease type B|RI-CMTB|KARS Charcot-Marie-Tooth disease|RI-CMT type B|Charcot-Marie-Tooth disease, recessive intermediate B|Charcot-Marie-Tooth disease, recessive intermediate, B|Charcot-Marie-Tooth neuropathy, recessive Intermediate B|Charcot-Marie-Tooth disease recessive intermediate type B|Charcot-Marie-Tooth disease caused by mutation in KARS|Charcot-Marie-Tooth neuropathy recessive intermediate B UMLS:C3150897|ICD10:G60.0|DOID:0110204|OMIM:613641|GARD:0012454|Orphanet:254334 owl:Class MONDO:0017058 biolink:NamedThing autosomal recessive intermediate Charcot-Marie-Tooth disease Autosomal recessive form of intermediate Charcot-Marie-Tooth disease. tmpaxzxjjyw_mondo_relaxed.owl intermediate Charcot-Marie-Tooth disease, autosomal recessive|autosomal recessive intermediate Charcot-Marie-Tooth disease|RI-CMT ICD10:G60.0|Orphanet:268337|UMLS:CN202416|GARD:0012452 https://rarediseases.info.nih.gov/diseases/12452/autosomal-recessive-intermediate-charcot-marie-tooth-disease owl:Class GO:1903651 biolink:NamedThing positive regulation of cytoplasmic transport Any process that activates or increases the frequency, rate or extent of cytoplasmic transport. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of cytoplasmic transport|positive regulation of cytoplasmic streaming|activation of cytoplasmic streaming|upregulation of cytoplasmic streaming|up regulation of cytoplasmic streaming|upregulation of cytoplasmic transport|up regulation of cytoplasmic transport|activation of cytoplasmic transport|up-regulation of cytoplasmic streaming owl:Class MONDO:0008458 biolink:NamedThing spinocerebellar ataxia type 2 Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea. tmpaxzxjjyw_mondo_relaxed.owl olivopontocerebellar atrophy, Holguin type|SCA 2|amyotrophic lateral sclerosis, susceptibility to, 13|OPCA2|amyotrophic lateral sclerosis type 13|ALS13|ATXN2 autosomal dominant cerebellar ataxia type I|spinocerebellar ataxia type 2|spinocerebellar atrophy 2|olivopontocerebellar atrophy 2|spinocerebellar Degeneration with slow eye movements|olivopontocerebellar atrophy Holguin type|Wadia swami syndrome|spinocerebellar ataxia with slow eye movements|cerebellar Degeneration with slow eye movements|spinocerebellar ataxia Cuban type|spinocerebellar ataxia 2|spinocerebellar ataxia, Cuban type|amyotrophic lateral sclerosis 13|Wadia-swami syndrome|SCA2|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2 OMIM:183090|Orphanet:98756|ICD10:G11.2|UMLS:C0752121|NCIT:C148315|GARD:0004072|SCTID:715751004|DOID:0050955 owl:Class MONDO:0019792 biolink:NamedThing autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement. tmpaxzxjjyw_mondo_relaxed.owl cerebellar plus syndrome|autosomal dominant cerebellar ataxia type 1|ADCA1|ADCAI UMLS:CN206744|Orphanet:94145|ICD10:G11.8 owl:Class MONDO:0011037 biolink:NamedThing renal dysplasia, cystic, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl CYSRD|diffuse cystic renal dysplasia|renal dysplasia, cystic, susceptibility to|renal dysplasia diffuse cystic OMIM:601331|GARD:0004658|MESH:C537755|DOID:0111682 owl:Class UBERON:0014903 biolink:NamedThing primordial vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001048 biolink:NamedThing primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043862 biolink:NamedThing voice disorders A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis. tmpaxzxjjyw_mondo_relaxed.owl neurologic dysphonia|voice disorder|neurologic voice disorder SCTID:71941009|MESH:D014832|NCIT:C3441 owl:Class GO:0044703 biolink:NamedThing multi-organism reproductive process A biological process that directly contributes to the process of producing new individuals, involving another organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0022414 biolink:NamedThing reproductive process A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. tmpaxzxjjyw_mondo_relaxed.owl single organism reproductive process owl:Class MONDO:0020843 biolink:NamedThing pseudomembranous diphtheritic conjunctivitis Pseudomembranous colitis resulting from infection by Corynebacterium diphtheriae. tmpaxzxjjyw_mondo_relaxed.owl pseudomembranous diphtheritic conjunctivitis|Conjunctival diphtheria|conjunctival diphtheria SCTID:7773002|UMLS:C0012554|NCIT:C34543|ICD9:032.81 owl:Class MONDO:0001217 biolink:NamedThing pseudomembranous conjunctivitis Conjunctivitis that is characterized by formation of a pseudomembrane. tmpaxzxjjyw_mondo_relaxed.owl conjunctivitis with pseudomembrane ICD10:H10.22|SCTID:72115001|NCIT:C35196|ICD9:372.04|GARD:0008446|DOID:11190|UMLS:C0155144 MONDO:0022856 https://rarediseases.info.nih.gov/diseases/8446/conjunctivitis-with-pseudomembrane owl:Class MONDO:0100471 biolink:NamedThing vitamin D deficiency Abnormally low level of 25-hydroxyvitamin D in the blood. tmpaxzxjjyw_mondo_relaxed.owl vitamin D insufficiency|avitaminosis D, NOS|avitaminosis D|vitamin D deficiency (disorder)|deficiency of vitamin D (disorder)|DEFIC VITAMIN D|vitamin D deficiency, NOS|deficiency, vitamin D|deficiencies, vitamin D|VITAMIN D DEFIC|vitamin D deficiencies EFO:0003762|ICD9:268|MeSH:D014808|SNOMEDCT:34713006|DOID:10574|UMLS:C0042870|HP:0100512|ICD10:E55|NCIT:C114830 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0024298 biolink:NamedThing vitamin deficiency disorder A disorder that is caused by the deficiency of a vitamin. The deficiency may result from either suboptimal vitamin intake or conditions that prevent the vitamin's use or absorption in the body. Representative examples include beriberi caused by thiamine deficiency, scurvy caused by vitamin C deficiency, and rickets caused by vitamin D deficiency. tmpaxzxjjyw_mondo_relaxed.owl deficiencies, vitamin|vitamin deficiency disorder|deficiency, vitamin|Avitaminoses|vitamin deficiencies|vitamin deficiency|avitaminosis ICD9:269.1|MESH:D001361|NCIT:C35772|ICD9:269.2|EFO:0005878|UMLS:C0376286|UMLS:C1510471|SCTID:85670002 owl:Class MONDO:0006759 biolink:NamedThing femoral neuropathy Neuropathy of the femoral nerve. tmpaxzxjjyw_mondo_relaxed.owl femoral nerve lesions|peripheral nerve lesion of femoral nerve|femoral nerve peripheral nerve lesion|femoral nerve dysfunction EFO:1000936|UMLS:C0751931|SCTID:25690000|ICD10:G57.20|NCIT:C27595|DOID:4196|ICD9:355.2|ICD10:G57.2|MESH:D020428 owl:Class MONDO:0024334 biolink:NamedThing peripheral nerve lesion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002303 biolink:NamedThing central retinal vein occlusion Blockage of the central retinal vein. tmpaxzxjjyw_mondo_relaxed.owl retinal vein occlusion of central retinal vein|central retinal Venous occlusion|central retinal vein retinal vein occlusion NCIT:C118859|UMLS:C0154841|ICD10:H34.81|Orphanet:411527|ICD9:362.35|DOID:2450|SCTID:68478007 owl:Class MONDO:0006951 biolink:NamedThing retinal vein occlusion An occlusion of the retinal vein. tmpaxzxjjyw_mondo_relaxed.owl retinal vein occlusion|occlusion, of retinal vein MedDRA:10038907|MESH:D012170|UMLS:C0035328|SCTID:46085004|NCIT:C34981|EFO:1001157|DOID:1727 owl:Class GO:2000349 biolink:NamedThing negative regulation of CD40 signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of signaling via the CD40 signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of CD40 signalling pathway owl:Class GO:0009968 biolink:NamedThing negative regulation of signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of signaling pathway|inhibition of signal transduction|down regulation of signal transduction|down-regulation of signal transduction|downregulation of signal transduction|negative regulation of signalling pathway owl:Class UBERON:0001487 biolink:NamedThing pes joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000982 biolink:NamedThing skeletal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043101 biolink:NamedThing hypothalamic dysfunction Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients havevary depending on the hormones missing.Anumber of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction. tmpaxzxjjyw_mondo_relaxed.owl hypothalamic syndrome|hypothalamic dysfunction GARD:0002932|SCTID:111568001 owl:Class MONDO:0002150 biolink:NamedThing hypothalamic disorder Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders. tmpaxzxjjyw_mondo_relaxed.owl hypothalamus disease or disorder|disease or disorder of hypothalamus|hypothalamus disease|disorder of hypothalamus|disease of hypothalamus UMLS:C0020655|MESH:D007027|ICD9:253.9|SCTID:399100005|DOID:1931 owl:Class MONDO:0003934 biolink:NamedThing breast apocrine carcinoma An adenocarcinoma of the breast characterized by the presence of two intermingled cellular components: cells with abundant granular, eosinophilic cytoplasm, and cells with abundant cytoplasm containing fine empty vacuoles. tmpaxzxjjyw_mondo_relaxed.owl apocrine adenocarcinoma of breast|apocrine carcinoma of the breast|breast apocrine carcinoma|breast apocrine adenocarcinoma|apocrine carcinoma of breast|apocrine breast carcinoma NCIT:C5141|UMLS:C1332316|DOID:6581 owl:Class MONDO:0019347 biolink:NamedThing peeling skin syndrome Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS. tmpaxzxjjyw_mondo_relaxed.owl skin peeling syndrome|PSS|deciduous skin|peeling skin disease|keratosis exfoliativa congenita|familial continuous skin peeling|familial continuous skin peeling syndrome|idiopathic deciduous skin OMIM:613088|OMIM:270300|GARD:0007347|Orphanet:263543|SCTID:239065004|Orphanet:817|ICD10:Q80.8|ICD9:757.39|DOID:0060283|OMIMPS:270300 owl:Class MONDO:0017262 biolink:NamedThing inherited non-syndromic ichthyosis A inherited ichthyosis that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic inherited ichthyosis|isolated inherited ichthyosis Orphanet:281082 owl:Class MONDO:0009506 biolink:NamedThing specific granule deficiency tmpaxzxjjyw_mondo_relaxed.owl recurrent infection due to specific granule deficiency|SGD|lactoferrin-deficient neutrophils|neutrophil-specific granule deficiency|neutrophil lactoferrin deficiency|specific granule deficiency OMIMPS:245480|UMLS:C0398593|Orphanet:169142|MESH:C562873|OMIM:245480|OMIM:617475|ICD10:D71|GARD:0010778|SCTID:234587000 owl:Class MONDO:0024626 biolink:NamedThing defective phagocytic cell engulfment tmpaxzxjjyw_mondo_relaxed.owl defective phagocytic cell killing UMLS:C0398742|SCTID:234585008 owl:Class UBERON:0004270 biolink:NamedThing lower leg connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003569 biolink:NamedThing leg connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011988 biolink:NamedThing neutrophil immunodeficiency syndrome A primary immunodeficiency characterized by neutrophilia with severe neutrophil dysfunction, leukocytosis, a predisposition to bacterial infections and poor wound healing, including an absence of pus in infected areas. tmpaxzxjjyw_mondo_relaxed.owl neutrophil immunodeficiency syndrome MESH:C564275|OMIM:608203|ICD10:D71|Orphanet:183707|UMLS:C1842398|SCTID:723443003 owl:Class MONDO:0015978 biolink:NamedThing functional neutrophil defect tmpaxzxjjyw_mondo_relaxed.owl neutrophil disease|neutrophilopathy SCTID:105600002|Orphanet:183681 owl:Class MONDO:0008009 biolink:NamedThing monilethrix Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis. tmpaxzxjjyw_mondo_relaxed.owl monilethrix|MNLIX|moniliform hair syndrome|nodose hair GARD:0000093|MESH:D056734|NCIT:C84894|SCTID:69488000|ICD10:Q84.1|DOID:0050472|UMLS:C0546966|Orphanet:573|OMIM:158000 https://rarediseases.info.nih.gov/diseases/93/monilethrix owl:Class MONDO:0019281 biolink:NamedThing isolated genetic hair shaft abnormality tmpaxzxjjyw_mondo_relaxed.owl isolated hair shaft abnormality Orphanet:79366 owl:Class UBERON:0019258 biolink:NamedThing white matter of hindbrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002316 biolink:NamedThing white matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006905 biolink:NamedThing mandibular process mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005253 biolink:NamedThing head mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006578 biolink:NamedThing mediastinal lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl mediastinal lipomatosis UMLS:C1334662|EFO:1000732|DOID:3926|NCIT:C27488 owl:Class MONDO:0006574 biolink:NamedThing lipomatosis A neoplastic process characterized by diffuse overgrowth of mature adipose tissue. tmpaxzxjjyw_mondo_relaxed.owl lipomatosis|Launois-Bensaude syndrome|Madelung disease|Madelung's disease UMLS:C0023801|MESH:D008068|ICD9:272.8|EFO:1000728|SCTID:402693001|DOID:3153|Wikipedia:Lipomatosis|NCIT:C3193|ICD10:E88.2 owl:Class MONDO:0010856 biolink:NamedThing autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterised by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). tmpaxzxjjyw_mondo_relaxed.owl PKDTS|chromosome 16P13.3 deletion syndrome, distal|polycystic kidneys, severe infantile with tuberous sclerosis|polycystic kidney disease, infantile severe, with tuberous sclerosis|tuberous sclerosis/polycystic kidney disease contiguous gene syndrome|tuberous sclerosis polycystic kidney disease contiguous gene syndrome GARD:0009481|UMLS:C1838327|MESH:C536328|SCTID:765331004|Orphanet:88924|OMIM:600273 owl:Class MONDO:0019741 biolink:NamedThing familial cystic renal disease An instance of cystic kidney disease that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary cystic kidney disease UMLS:CN206655|Orphanet:93587 owl:Class UBERON:0007106 biolink:NamedThing chorionic villus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000478 biolink:NamedThing extraembryonic structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004659 biolink:NamedThing eye carcinoma in situ A carcinoma in situ involving a eye. tmpaxzxjjyw_mondo_relaxed.owl eye in situ carcinoma|stage 0 eyeball of camera-type eye carcinoma|carcinoma in situ of eye|eyeball of camera-type eye carcinoma in situ|stage 0 eye carcinoma|carcinoma in situ of eyeball of camera-type eye ICD9:234.0|SCTID:92590009|DOID:8792|ICD10:D09.2|UMLS:C0154094 owl:Class MONDO:0004647 biolink:NamedThing in situ carcinoma A malignant epithelial neoplasm which is confined to the epithelial layer without evidence of further tissue invasion. tmpaxzxjjyw_mondo_relaxed.owl carcinoma, in situ, malignant|CIS|non-invasive carcinoma|intraepithelial carcinoma|carcinoma in situ|epithelial tumor, in situ, malignant|stage 0 disease ICD9:230-234.99|ICD9:234.8|SCTID:109355002|ICD9:234.9|UMLS:C0007099|ICD10:D09.9|DOID:8719|MESH:D002278|NCIT:C2917|ICDO:8010/2 Editor note: check pre-malignant vs malignant owl:Class HGNC:11480 biolink:NamedThing SVIL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011846 biolink:NamedThing bulimia nervosa, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl bulimia nervosa, susceptibility to, 2|anorexia nervosa, susceptibility to, 2|BN|BULN|bulimia nervosa, susceptibility to|bulimia nervosa, susceptibility to, type 2|BULN1|bulimia nervosa, susceptibility to, 1|BULN2|susceptibility to bulimia nervosa 2 OMIM:607499|UMLS:CN244558 owl:Class MONDO:0020573 biolink:NamedThing inherited disease susceptibility A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. tmpaxzxjjyw_mondo_relaxed.owl predispositions, genetic|hereditary disease susceptibility|genetic predispositions|susceptibilities, genetic|genetic susceptibilities|genetic predisposition|genetic susceptibility|predisposition, genetic|susceptibility, genetic|hereditary predisposition to disease MESH:D020022 cjm 2017-09-30T12:01:25Z owl:Class MONDO:0013116 biolink:NamedThing congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome tmpaxzxjjyw_mondo_relaxed.owl myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay|congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome|myopathy with cataract and combined respiratory chain deficiency|mitochondrial Complex deficiency, combined|myopathy with cataract and combined respiratory-chain deficiency|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome MESH:C567769|OMIM:613076|Orphanet:330054|UMLS:C2751320|ICD10:G71.3|GARD:0010522 owl:Class MONDO:0020225 biolink:NamedThing syndromic cataract A cataract (disease) that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic cataract (disease)|syndrome associated with cataract (disease) Orphanet:98641|UMLS:CN227829 owl:Class MONDO:0016522 biolink:NamedThing Kousseff syndrome A syndrome characterized by the association of conotruncal heart defects, myelomeningocele and craniofacial dysmorphism similar to that seen in monosomy 22q11. tmpaxzxjjyw_mondo_relaxed.owl sacral meningocele, conotruncal heart defects, and minor anomalies of head and neck|sacral meningocele-conotruncal heart defects syndrome|sacral meningocele conotruncal heart defects UMLS:C2931444|Orphanet:2351|MESH:C537223|GARD:0004752|SCTID:726083008|ICD10:Q87.8 owl:Class GO:0007606 biolink:NamedThing sensory perception of chemical stimulus The series of events required for an organism to receive a sensory chemical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpaxzxjjyw_mondo_relaxed.owl chemosensory perception owl:Class GO:0007600 biolink:NamedThing sensory perception The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000497 biolink:NamedThing pyometritis Inflammation of uterine musculature associated with pus in the uterine cavity. tmpaxzxjjyw_mondo_relaxed.owl inflammation of myometrium|myometrium inflammation|pyometra UMLS:C0686163|NCIT:C121207|UMLS:C0034215|MESH:D055112|DOID:0050862|SCTID:88981003 owl:Class MONDO:0021166 biolink:NamedThing inflammatory disease A disease involving a pathogenic inflammatory response in the anatomical structure. tmpaxzxjjyw_mondo_relaxed.owl anatomical structure inflammation|inflammatory disease|inflammatory disorder|inflammation of anatomical structure ICD9:799.89|NCIT:C93210|SCTID:128139000|UMLS:C1290884 owl:Class GO:0071103 biolink:NamedThing DNA conformation change A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. tmpaxzxjjyw_mondo_relaxed.owl DNA conformation modification owl:Class GO:0051276 biolink:NamedThing chromosome organization A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. tmpaxzxjjyw_mondo_relaxed.owl chromosome organization and biogenesis|nuclear genome maintenance|chromosome organisation|maintenance of genome integrity owl:Class NCBITaxon:144051 biolink:NamedThing Cripavirus tmpaxzxjjyw_mondo_relaxed.owl Cricket paralysis-like viruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:232795 biolink:NamedThing Dicistroviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018634 biolink:NamedThing hereditary amyloidosis Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants. tmpaxzxjjyw_mondo_relaxed.owl amyloidosis, Familial|amyloidosis hereditary|hereditary amyloidosis (disease)|familial amyloidosis GARD:0006611|MESH:D028226|Orphanet:444116|UMLS:C0206246|SCTID:367601000119103|NCIT:C84555 https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis owl:Class MONDO:0019065 biolink:NamedThing amyloidosis A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands. tmpaxzxjjyw_mondo_relaxed.owl amyloid disease|amyloidoses|amyloidosis|amyloidosis (disease)|amyloid amyloidosis (disease) ICD10:E85.0|Orphanet:69|ICD10:E85.4|ICD9:277.30|ICD10:E85.3|ICD10:E85|ICD9:277.3|ICD10:E85.9|HP:0011034|ICD10:E85.1|EFO:1001875|MESH:D000686|UMLS:C0002726|ONCOTREE:MIDDA|NCIT:C2868|DOID:9120|MedDRA:10002022|SCTID:17602002|ICD10:E85.2|ICD10:E85.8 Editor note: in DO this is classified as acquired metabolic, but contains familial subtypes owl:Class GO:1900449 biolink:NamedThing regulation of glutamate receptor signaling pathway Any process that modulates the frequency, rate or extent of glutamate receptor signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl regulation of glutamate signalling pathway|regulation of glutamate signaling pathway owl:Class MONDO:0020093 biolink:NamedThing autosomal dominant isolated diffuse palmoplantar keratoderma Autosomal dominant form of isolated diffuse palmoplantar keratoderma. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant isolated diffuse palmoplantar hyperkeratosis|isolated diffuse palmoplantar keratoderma, autosomal dominant UMLS:CN229268|Orphanet:98349|ICD10:Q82.8 owl:Class MONDO:0000426 biolink:NamedThing autosomal dominant disease Autosomal dominant form of disease. tmpaxzxjjyw_mondo_relaxed.owl disease, autosomal dominant|autosomal dominant hereditary disorder|disease or disorder, autosomal dominant|autosomal dominant inherited disorder|autosomal dominant disease or disorder SCTID:11164009|ICD9:758.5|UMLS:C0265385|DOID:0050736 owl:Class MONDO:0043166 biolink:NamedThing pancreatic lipomatosis duodenal stenosis tmpaxzxjjyw_mondo_relaxed.owl pancreatic lipomatosis and duodenal atresia GARD:0004208|MESH:C535839|UMLS:C2931040 owl:Class MONDO:0012774 biolink:NamedThing chromosome 15q13.3 microdeletion syndrome 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features. tmpaxzxjjyw_mondo_relaxed.owl monosomy 15q13.3|15q13.3 microdeletion syndrome|microdeletion 15q13.3 syndrome|chromosome 15q13.3 deletion syndrome|15q13.3 microdeletion|chromosome 15q13.3 microdeletion syndrome|Del(15)(q13.3) Orphanet:199318|ICD10:Q93.5|OMIM:612001|DOID:0060394|GARD:0010296|SCTID:699254009|MESH:C567439 owl:Class MONDO:0000761 biolink:NamedThing syndrome caused by partial chromosomal deletion A chromosomal disorder consisting of the absence of a part of a chromosome. tmpaxzxjjyw_mondo_relaxed.owl chromosomal deletion syndrome DOID:0060388 Editor note: this is used in DOID to encompass typically partial deletions owl:Class UBERON:0008982 biolink:NamedThing fascia tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007846 biolink:NamedThing dense regular connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012245 biolink:NamedThing developmental and epileptic encephalopathy, 3 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene. tmpaxzxjjyw_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in SLC25A22|epileptic encephalopathy, early infantile, 3|DEE3|SLC25A22 early infantile epileptic encephalopathy|EIEE3|epileptic encephalopathy, early infantile, type 3 DOID:0080440|Orphanet:1935|UMLS:C0270855|OMIM:609304 owl:Class MONDO:0100062 biolink:NamedThing developmental and epileptic encephalopathy A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. tmpaxzxjjyw_mondo_relaxed.owl infantile epileptic encephalopathy|early infantile epileptic encephalopathy|Ohtahara syndrome|early infantile epileptic encephalopathy with burst-suppression|developmental and epileptic encephalopathy|epileptic encephalopathy, early infantile|infantile spasm|EIEE|early infantile epileptic encephalopathy with suppression-bursts|epileptic encephalopathy, infantile 2018-10-10 22:04:15+00:00 NCIT:C84788|OMIM:613477|OMIMPS:308350|ICD10:G40.3|GARD:0009255|OMIM:613722|OMIM:607208|UMLS:C0037769|OMIM:615473|OMIM:613402|OMIM:613721|OMIM:308350|DOID:0050709|ICD10:G40.82|ICD9:345.6|EFO:1000643|OMIM:609304|OMIM:300607|SCTID:28055006|OMIM:612164|ICD9:345.10|OMIM:613720|NCIT:C122814|OMIM:300672|OMIM:616341|DOID:2481|Orphanet:1934|MedDRA:10071545|SCTID:230429005 Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes. owl:Class NCBITaxon:36830 biolink:NamedThing Clostridium botulinum E tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1491 biolink:NamedThing Clostridium botulinum tmpaxzxjjyw_mondo_relaxed.owl Botulobacillus botulinus|Pacinia putrifica|Clostridium putrificum|Ermengemillus botulinus|Bacillus putrificus|Bacillus botulinus PMID:15244052|GC_ID:11|PMID:10028279 NCBITaxon:29368 ncbi_taxonomy owl:Class MONDO:0013102 biolink:NamedThing basal cell carcinoma, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl BCC3|basal cell carcinoma, susceptibility to, 3 UMLS:C2751605|OMIM:613059 owl:Class MONDO:0005341 biolink:NamedThing skin basal cell carcinoma The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl skin basal cell carcinoma|basal cell epithelioma|basal cell skin carcinoma|basal cell tumor|basal cell carcinoma of skin|BCC|skin basal cell cancer|basal cell carcinoma|epithelioma basal cell|basal cell carcinoma of the skin|basal cell cancer SCTID:254701007|OMIM:613059|UMLS:C0007117|DOID:2513|OMIM:605462|OMIM:613061|UMLS:C0751676|UMLS:C0206710|CSP:2000-2719|OMIM:613062|ONCOTREE:BCC|NCIT:C2921|OMIM:613058|HP:0002671|OMIM:614740|ICDO:8090/3|KEGG:05217|EFO:0004193|OMIM:613063 owl:Class MONDO:0032928 biolink:NamedThing T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT|TLIND OMIM:618806 owl:Class UBERON:0012239 biolink:NamedThing urinary bladder vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006876 biolink:NamedThing vasculature of organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014399 biolink:NamedThing ataxia-telangiectasia-like disorder 2 tmpaxzxjjyw_mondo_relaxed.owl ataxia-telangiectasia-like disorder 2|ATLD2|ataxia-telangiectasia-like disorder type 2|PCNA-related progressive neurodegenerative photosensitivity syndrome OMIM:615919|Orphanet:438134|ICD10:G11.3|UMLS:C4014676 owl:Class MONDO:0023368 biolink:NamedThing Ho-Kaufman-McAlister syndrome Cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet tmpaxzxjjyw_mondo_relaxed.owl Ho Kaufman McAlister syndrome|cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet GARD:0001266|UMLS:C2931819|MESH:C538325 https://rarediseases.info.nih.gov/diseases/1266/ho-kaufman-mcalister-syndrome owl:Class MONDO:0018091 biolink:NamedThing microcephaly-brachydactyly-kyphoscoliosis syndrome Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl Viljoen-Kallis-Voges syndrome|Viljoen Kallis Voges syndrome|microcephaly brachydactyly kyphoscoliosis|microcephaly, short stature, brachydactyly type D, flattened occiput, low-set large ears, prominent nose, kyphoscoliosis and intellectual disability Orphanet:3433|UMLS:C2931177|SCTID:719378009|GARD:0005490|ICD10:Q87.8|MESH:C536349 https://rarediseases.info.nih.gov/diseases/5490/viljoen-kallis-voges-syndrome owl:Class MONDO:0004328 biolink:NamedThing maxillary sinus adenocarcinoma An adenocarcinoma that arises from the maxillary sinus. It is classified as intestinal-type or non-intestinal-type adenocarcinoma. Nasal obstruction and epistaxis are the presenting signs. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of the maxillary sinus|maxillary sinus adenocarcinoma|adenocarcinoma of maxillary sinus SCTID:707339009|NCIT:C6240|UMLS:C1334642|DOID:7684 owl:Class MONDO:0001748 biolink:NamedThing maxillary sinus carcinoma A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of maxillary sinus|malignant tumor of maxillary sinus|carcinoma of maxillary sinus|malignant tumor of the maxillary sinus|cancer of maxillary sinus|malignant maxillary sinus tumor|malignant neoplasm of the maxillary sinus|malignant neoplasm of antrum|maxillary sinus carcinoma|malignant maxillary sinus neoplasm|maxillary sinus cancer ICD10:C31.0|NCIT:C3540|ICD9:160.2|SCTID:363425008|DOID:1357|NCIT:C9332 owl:Class HGNC:26162 biolink:NamedThing PYROXD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004365 biolink:NamedThing necrotic uveal melanoma A uveal melanoma characterized by the presence of tumor cell necrosis. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7990|DOID:7808|UMLS:C1334931 owl:Class MONDO:0006486 biolink:NamedThing uveal melanoma A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B. tmpaxzxjjyw_mondo_relaxed.owl uveal melanoma|iris melanoma|uvea melanoma|melanoma (disease) of uvea|melanoma, uveal, malignant|melanoma of the uvea|melanoma of uvea|choroidal melanoma|uvea melanoma (disease)|intraocular melanoma MESH:C536494|GARD:0008621|DOID:6039|EFO:1000616|ONCOTREE:UM|OMIM:155720|Orphanet:39044|OMIM:606661|NCIT:C7712|UMLS:C0346388|OMIM:606660|MedDRA:10061252|UMLS:C0220633|ICD10:C69.3 owl:Class CHEBI:27306 biolink:NamedThing vitamin B6 Any member of the group of pyridines that exhibit biological activity against vitamin B6 deficiency. Vitamin B6 deficiency is associated with microcytic anemia, electroencephalographic abnormalities, dermatitis with cheilosis (scaling on the lips and cracks at the corners of the mouth) and glossitis (swollen tongue), depression and confusion, and weakened immune function. Vitamin B6 consists of the vitamers pyridoxine, pyridoxal, and pyridoxamine and their respective 5'-phosphate esters (and includes their corresponding ionized and salt forms). tmpaxzxjjyw_mondo_relaxed.owl vitamins B6|Vitamin B6|vitamin B6 vitamer|vitamin B6 vitamers|vitamine B6|vitamina B6|vitamin B-6 owl:Class CHEBI:26421 biolink:NamedThing pyridines Any organonitrogen heterocyclic compound based on a pyridine skeleton and its substituted derivatives. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002689 biolink:NamedThing negative regulation of leukocyte chemotaxis Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte chemotaxis. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of immune cell chemotaxis|down-regulation of leukocyte chemotaxis|inhibition of leukocyte chemotaxis|downregulation of leukocyte chemotaxis|down regulation of leukocyte chemotaxis|negative regulation of leucocyte chemotaxis owl:Class GO:0050922 biolink:NamedThing negative regulation of chemotaxis Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. tmpaxzxjjyw_mondo_relaxed.owl inhibition of chemotaxis|down-regulation of chemotaxis|down regulation of chemotaxis|downregulation of chemotaxis owl:Class GO:0007626 biolink:NamedThing locomotory behavior The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions. tmpaxzxjjyw_mondo_relaxed.owl locomotory behaviour|locomotory behavioural response to stimulus|behavior via locomotion|locomotion in response to stimulus|locomotory behavioral response to stimulus owl:Class GO:0007610 biolink:NamedThing behavior The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity. tmpaxzxjjyw_mondo_relaxed.owl behaviour|behavioural response to stimulus|single-organism behavior|behavioral response to stimulus owl:Class HGNC:795 biolink:NamedThing ATM tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042483 biolink:NamedThing negative regulation of odontogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of a tooth or teeth. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of odontogenesis|negative regulation of odontogenesis of calcareous or chitinous tooth|negative regulation of tooth development|inhibition of odontogenesis|downregulation of odontogenesis|down regulation of odontogenesis owl:Class GO:0042481 biolink:NamedThing regulation of odontogenesis Any process that modulates the frequency, rate or extent of the formation and development of a tooth or teeth. tmpaxzxjjyw_mondo_relaxed.owl regulation of odontogenesis of calcareous or chitinous tooth|regulation of tooth development owl:Class MONDO:0013969 biolink:NamedThing combined oxidative phosphorylation defect type 11 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency 11|combined oxidative phosphorylation deficiency type 11|combined oxidative phosphorylation defect type 11|combined oxidative phosphorylation deficiency caused by mutation in RMND1|Encephaloneuromyopathy, infantile, due to mitochondrial translation defect|COXPD11|RMND1 combined oxidative phosphorylation deficiency Orphanet:324535|OMIM:614922|ICD10:G31.8|DOID:0111481|UMLS:C3554067 owl:Class MONDO:0018157 biolink:NamedThing mitochondrial disorder due to a defect in mitochondrial protein synthesis tmpaxzxjjyw_mondo_relaxed.owl COXPD|combined OXPHOS defect|combined oxidative phosphorylation defect|combined OXPHOS deficiency 2022-03-01 ICD10:E88.8|Orphanet:35696|UMLS:CN227273 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class ENVO:01000883 biolink:NamedThing area of developed open space An area of a planet's surface which is primarily covered by cultivated or anthropically maintained vegetation planted for recreation, erosion control, or aesthetic purposes interspersed by constructed or manufactured objects and materials. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001200 biolink:NamedThing anthropised terrestrial environmental zone A terrestrial zone which is bounded by constructed, manufactured, or other anthropogenic material entities. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:29178 biolink:NamedThing Foraminifera tmpaxzxjjyw_mondo_relaxed.owl Foraminiferida|foraminifers|forams GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2662056 biolink:NamedThing Retaria tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0050664 biolink:NamedThing oxidoreductase activity, acting on NAD(P)H, oxygen as acceptor Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces an oxygen molecule. tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase activity, acting on NADH or NADPH, oxygen as acceptor owl:Class GO:0016651 biolink:NamedThing oxidoreductase activity, acting on NAD(P)H Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpaxzxjjyw_mondo_relaxed.owl NAD(P)H dehydrogenase|oxidoreductase activity, acting on NADH or NADPH|oxidoreductase activity, acting on NADH or NADPH, other acceptor owl:Class UBERON:0003498 biolink:NamedThing heart blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001981 biolink:NamedThing blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022067 biolink:NamedThing Cantu sanchez-corona fragoso syndrome tmpaxzxjjyw_mondo_relaxed.owl severe mental deficiency proportionate dwarfism and delayed sexual maturation|severe mental deficiency, proportionate dwarfism, and delayed sexual maturation MESH:C535571|GARD:0001081|UMLS:C2930937 https://rarediseases.info.nih.gov/diseases/1081/cantu-sanchez-corona-fragoso-syndrome owl:Class MONDO:0004750 biolink:NamedThing language disorder A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect. tmpaxzxjjyw_mondo_relaxed.owl MESH:D007806|HP:0002463|EFO:0005425|DOID:93|NCIT:C97155|ICD10:F80.9 owl:Class MONDO:0002182 biolink:NamedThing communication disorder A disorder characterized by an individual's inability to comprehend or share ideas or feelings because of an impairment in language, speech, or hearing. tmpaxzxjjyw_mondo_relaxed.owl communicative disorders ICD10:F80.9|SCTID:278919001|NCIT:C2958|MESH:D003147|DOID:2033|ICD9:307.9 https://rarediseases.info.nih.gov/diseases/3857/muscular-fibrosis-multifocal-obstructed-vessels owl:Class MONDO:0020644 biolink:NamedThing lung non-Hodgkin lymphoma A rare non-Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. Representative examples include bronchial mucosa-associated lymphoid tissue lymphoma and diffuse large B-cell lymphoma. tmpaxzxjjyw_mondo_relaxed.owl non-Hodgkin lymphoma of lung|primary lung non-Hodgkin's lymphoma|lung non-Hodgkin's lymphoma|lung non-Hodgkin lymphoma UMLS:C1334453|NCIT:C5684 owl:Class MONDO:0018908 biolink:NamedThing non-Hodgkin lymphoma Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage. tmpaxzxjjyw_mondo_relaxed.owl non-Hodgkin lymphoma|NHL|non-Hodgkin's lymphoma (NHL)|non-Hodgkin's lymphoma|non-Hodgkins lymphoma OMIM:605027|MESH:D008228|ONCOTREE:NHL|EFO:0005952|MedDRA:10029547|UMLS:C0024305|NCIT:C3211|ICDO:9591/3|Orphanet:547|DOID:0060060 owl:Class HGNC:23141 biolink:NamedThing TRMT5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018440 biolink:NamedThing autosomal recessive distal renal tubular acidosis Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed. tmpaxzxjjyw_mondo_relaxed.owl AR dRTA|autosomal recessive distal RTA|distal renal tubular acidosis (disease), autosomal recessive|autosomal recessive distal renal tubular acidosis (disease) OMIM:602722|ICD10:N25.8|Orphanet:402041|OMIM:267300|UMLS:C1864498 owl:Class MONDO:0015827 biolink:NamedThing distal renal tubular acidosis Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia. tmpaxzxjjyw_mondo_relaxed.owl dRTA|renal tubular acidosis, distal|classic RTA|distal renal tubular acidosis|distal renal tubular acidosis (disease)|familial distal primary acidosis|renal tubular acidosis type 1 distal renal tubular acidosis (disease) ICD10:N25.8|OMIM:179800|Orphanet:18|HP:0008341|ICD9:588.89|MedDRA:10045224|SCTID:236461000|OMIM:267300|OMIM:611590|GARD:0004667|OMIMPS:179800|OMIM:602722 owl:Class GO:0051321 biolink:NamedThing meiotic cell cycle Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. tmpaxzxjjyw_mondo_relaxed.owl meiosis owl:Class MONDO:0024286 biolink:NamedThing benign blood vessel neoplasm A benign neoplasm arising from arteries or veins. tmpaxzxjjyw_mondo_relaxed.owl benign blood vessel neoplasm|benign blood vessel tumor UMLS:C0685121|NCIT:C8537 owl:Class MONDO:0021080 biolink:NamedThing blood vessel neoplasm A neoplasm arising from arteries or veins. tmpaxzxjjyw_mondo_relaxed.owl blood vessel neoplasm|neoplasm of blood vessel|tumor of blood vessel|blood vessel tumor|blood vessel neoplasm (disease) SCTID:126736007|NCIT:C7387 owl:Class UBERON:0003705 biolink:NamedThing Meckel's diverticulum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006590 biolink:NamedThing remnant of embryonic structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045595 biolink:NamedThing regulation of cell differentiation Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010988 biolink:NamedThing Abnormality of the extrinsic pathway An abnormality of the extrinsic pathway (also known as the tissue factor pathway) of the coagulation cascade. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023611 The extrinsic pathway is a protein activation cascade that contributes to blood coagulation and consists of the self-limited process linking exposure and activation of tissue factor to the activation of clotting factor X. peter 2011-02-08T01:59:22Z human_phenotype owl:Class HP:0003256 biolink:NamedThing Abnormality of the coagulation cascade An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. tmpaxzxjjyw_mondo_relaxed.owl Coagulopathy SNOMEDCT_US:64779008|UMLS:C0005779|SNOMEDCT_US:362970003|MSH:D001778 HP:0001925 human_phenotype owl:Class MONDO:0007982 biolink:NamedThing metaphyseal chondrodysplasia, Jansen type Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia. tmpaxzxjjyw_mondo_relaxed.owl metaphyseal chondrodysplasia, Jansen type|Jansen metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, murk Jansen type|Jansen's metaphyseal chondrodysplasia|Jansen metaphyseal dysostosis|metaphyseal chondrodysplasia murk Jansen type|Jansen type metaphyseal chondrodysplasia|murk Jansen type metaphyseal chondrodysplasia|Jansen disease GARD:0000079|ICD10:Q78.5|DOID:0080020|OMIM:156400|UMLS:C0265295|MESH:C537564|Orphanet:33067|SCTID:24629003|NCIT:C131868 MONDO:0000842 owl:Class MONDO:0019693 biolink:NamedThing multiple metaphyseal dysplasia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93430|ICD10:Q78.5 owl:Class MONDO:0010910 biolink:NamedThing enuresis, nocturnal, 1 Nocturnal enuresis with at least 3 nightly episodes in children older than 7 years, where the child has always had the disorder. tmpaxzxjjyw_mondo_relaxed.owl Bedwetting|ENUR1|enuresis, nocturnal, 1 OMIM:600631 owl:Class MONDO:0001191 biolink:NamedThing hirudiniasis An disease or disorder caused by infection with Hirudinea. tmpaxzxjjyw_mondo_relaxed.owl leeches|Hirudinea caused disease or disorder|Hirudinea disease or disorder|Hirudinea infectious disease SCTID:64351000|ICD10:B88.3|ICD9:134.2|UMLS:C0019575|DOID:11079 owl:Class MONDO:0005550 biolink:NamedThing infectious disease A disorder directly resulting from the presence and activity of a microbial, viral, or parasitic agent. It can be transmitted by direct or indirect contact. tmpaxzxjjyw_mondo_relaxed.owl infectious disorder|clinical infection|infectious|infectious diseases and manifestations|communicable disease|infection|disease by infectious agent|transmissible disease|infectious disease DOID:0050117|NCIT:C26726|ICD9:079.0|ICD9:136.9|IDO:0000436|ICD9:136.8|MESH:D003141|ICD10:A00.B99|SCTID:40733004|EFO:0005741 Replaces 'infection' in disease hierarchy. OBI imported term infection is moved to pathologic process. This class is a container class for infectious diseases, not the process of infection itself. owl:Class MONDO:0006329 biolink:NamedThing olfactory neuroblastoma An olfactory neuroblastoma arising in the paranasal sinus. tmpaxzxjjyw_mondo_relaxed.owl esthesioneuroblastoma (morphologic abnormality)|Asthesioneuroblastoma (morphologic abnormality)|Esthesioneuroepithelioma [dup] (morphologic abnormality)|olfactory neuroblastoma|Esthesioneuroepithelioma (morphologic abnormality)|Esthesioneuroepithelioma|Asthesioneuroblastoma|paranasal sinus olfactory neuroblastoma|olfactory esthesioneuroblastoma|esthesioneuroblastoma|olfactory neuroepithelioma ICDO:9522/3|DOID:369|ONCOTREE:ONBL|EFO:1000407|ICDO:9523/3|NCIT:C3789 owl:Class MONDO:0002433 biolink:NamedThing malignant cranial nerve neoplasm Abnormal malignant growth of the cells that comprise the cranial nerve. tmpaxzxjjyw_mondo_relaxed.owl cancer of cranial nerve|malignant tumor of the cranial nerve|malignant neoplasm of cranial nerves|malignant cranial nerve tumor|cranial nerve malignant neoplasm|malignant cranial nerve neoplasm|cranial nerve cancer|cranial nerve neoplasm, malignant|malignant neoplasm of cranial nerve|malignant neoplasm of the cranial nerve|malignant tumor of cranial nerve MESH:D003390|ICD10:C72.50|SCTID:188307009|UMLS:C0153644|NCIT:C3571|DOID:2815|ICD9:192.0 owl:Class HP:0006000 biolink:NamedThing Ureteral obstruction Obstruction of the flow of urine through the ureter. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:20018005|MSH:D014517|UMLS:C0041956|Fyler:4492 human_phenotype owl:Class HP:0025634 biolink:NamedThing Abnormal ureter physiology A functional abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. tmpaxzxjjyw_mondo_relaxed.owl 2019-04-26 17:43:08+00:00 HPO:probinson human_phenotype owl:Class CL:0000553 biolink:NamedThing megakaryocyte progenitor cell The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative). tmpaxzxjjyw_mondo_relaxed.owl megacaryoblast|CFU-Meg|promegacaryocyte|Meg-CFC|megacaryocyte progenitor cell|MkP|megakaryoblast|megakaryocytic progenitor cell|promegakaryocyte|colony-forming unit-megakaryocyte CALOHA:TS-0610|FMA:84235|BTO:0001164 Lineage negative is described here as CD2-negative, CD3-negative, CD4-negative, CD5-negative, CD8a-negative, CD14-negative, CD19-negative, CD20-negative, CD56-negative, Ly6g-negative, and Ter119-negative. cell owl:Class CL:0009019 biolink:NamedThing nephrogenic zone cell A kidney cortical cell that is part of the nephrogenic zone. tmpaxzxjjyw_mondo_relaxed.owl cortical nephrogenic zone cell|cortical nephrogenic niche cell owl:Class CL:0002681 biolink:NamedThing kidney cortical cell tmpaxzxjjyw_mondo_relaxed.owl terryh 2011-10-25T03:49:41Z cell owl:Class MONDO:0002871 biolink:NamedThing testicular trophoblastic tumor A tumor that arises from the testis and is composed of neoplastic trophoblastic cells. The vast majority of cases are choriocarcinomas. tmpaxzxjjyw_mondo_relaxed.owl testicular trophoblastic tumor NCIT:C39934|DOID:4084|UMLS:C1515301 owl:Class MONDO:0002872 biolink:NamedThing trophoblastic neoplasm A gestational or non-gestational neoplasm composed of neoplastic trophoblastic cells. Representative examples include hydatidiform mole and choriocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of trophoblast|trophoblast neoplasm (disease)|trophoblastic tumor|trophoblastic neoplasm NOS (morphologic abnormality)|trophoblastic neoplasm|trophoblastic neoplasms|trophoblastic tumor (qualifier value)|trophoblastic neoplasm (morphologic abnormality)|trophoblast tumor|tumor of trophoblast|trophoblast neoplasm UMLS:C0041182|NCIT:C3422|DOID:4085|MESH:D014328 owl:Class CL:0002220 biolink:NamedThing interstitial cell of pineal gland A cell located between the pinealocytes. tmpaxzxjjyw_mondo_relaxed.owl FMA:86575 tmeehan 2010-09-02T04:28:41Z cell owl:Class CL:0000710 biolink:NamedThing neurecto-epithelial cell Epithelial cells derived from neural plate and neural crest. tmpaxzxjjyw_mondo_relaxed.owl neuroepithelial cell BTO:0004301|FMA:70557 The term "neuroepithelial cell" is used to describe both this cell type and sensory epithelial cell (CL:0000098). cell owl:Class MONDO:0005116 biolink:NamedThing Whipple disease A systemic infection caused by the Gram-positive bacterium Tropheryma whipplei. It affects the small intestine resulting in malabsorption. Other sites or systems affected by the infection are the joints, central nervous system, and the cardiovascular system. tmpaxzxjjyw_mondo_relaxed.owl Whipple disease|secondary non-tropical sprue|Tropheryma whippelii infection|Tropheryma whipplei infectious disease|intestinal lipodystrophy|intestinal lipophagic granulomatosis|Whipple's disease|Tropheryma whipplei caused disease or disorder|Tropheryma whipplei disease or disorder ICD10:K90.8+|UMLS:CN204440|ICD9:040.2|UMLS:C2930851|SCTID:41545003|DOID:8476|MESH:D008061|ICD10:M14.8*|UMLS:C0023788|NCIT:C85228|Orphanet:3452|ICD10:K90.81|GARD:0007889|EFO:0000775|MedDRA:10047931 owl:Class MONDO:0020010 biolink:NamedThing infectious disorder of the nervous system A infectious disease that involves the nervous system. tmpaxzxjjyw_mondo_relaxed.owl nervous system infectious disorder|nervous system infectious disease Orphanet:98010|ICD9:349.89|NCIT:C27590|UMLS:C0597039|SCTID:128116006 owl:Class NCBITaxon:8457 biolink:NamedThing Sauropsida tmpaxzxjjyw_mondo_relaxed.owl sauropsids GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:32524 biolink:NamedThing Amniota tmpaxzxjjyw_mondo_relaxed.owl amniotes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011407 biolink:NamedThing facial paresis, hereditary congenital, 2 tmpaxzxjjyw_mondo_relaxed.owl facial paresis, hereditary congenital, 2|Mobius syndrome 3|Moebius syndrome 3, formerly|Moebius syndrome 3|Mobius syndrome 3, formerly|HCFP2 Orphanet:306530|OMIM:604185|UMLS:C1858717 owl:Class MONDO:0002320 biolink:NamedThing congenital nervous system disorder An abnormality of the nervous system that is present at birth or detected in the neonatal period. tmpaxzxjjyw_mondo_relaxed.owl congenital neurologic anomaly|congenital nervous system disorder|congenital abnormality of the nervous system NCIT:C97172|ICD9:742|DOID:2490 owl:Class MONDO:0043424 biolink:NamedThing digestive system infectious disorder A viral, bacterial, fungal, or parasitic infectious process that affects the digestive system. tmpaxzxjjyw_mondo_relaxed.owl digestive system infection|gastrointestinal infection|infection of gastrointestinal tract|gastrointestinal system infection NCIT:C35503|SCTID:715852004 owl:Class MONDO:0006560 biolink:NamedThing hypohidrosis Reduced sweating. Causes include burns, dehydration, radiation, and leprosy. tmpaxzxjjyw_mondo_relaxed.owl Oligohidrosis NCIT:C34718|MESH:D007007|ICD10:L74.4|Wikipedia:Hypodidrosis|EFO:1000712|DOID:11155|SCTID:45004005|UMLS:C0020620|HP:0000966 Editor note: consider obsoleting owl:Class MONDO:0006615 biolink:NamedThing sweat gland disorder A disease involving the sweat gland. tmpaxzxjjyw_mondo_relaxed.owl sweat gland disease or disorder|disease of sweat glands|disorder of sweat glands|disease of sweat gland|sweat gland disease|disorder of sweat gland|disease or disorder of sweat gland MESH:D013543|ICD9:705|ICD10:L74|ICD9:705.9|SCTID:88232005|DOID:1383|ICD10:L74.9|ICD9:705.89|UMLS:C0038986|EFO:1000772 owl:Class MONDO:0008467 biolink:NamedThing Czeizel-Losonci syndrome Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987. tmpaxzxjjyw_mondo_relaxed.owl split hand urinary anomalies spina bifida|split hand-urinary anomalies-spina bifida syndrome|split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects|split hand with obstructive uropathy, spina bifida and diaphragmatic defects MESH:C566662|OMIM:183802|UMLS:C1866739|ICD10:Q87.8|GARD:0004969|Orphanet:2437 owl:Class MONDO:0043008 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability An instance of multiple congenital anomalies/dysmorphic syndrome without intellectual disability that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic MCA|hereditary multiple congenital anomalies/dysmorphic syndrome without intellectual disability|genetic multiple congenital anomalies without intellectual disability (with or without dysmorphism) Orphanet:330206 owl:Class MONDO:0000736 biolink:NamedThing dyschromatosis universalis hereditaria A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. tmpaxzxjjyw_mondo_relaxed.owl dyschromatosis universalis|DUH OMIM:615402|OMIMPS:127500|MESH:C535730|SCTID:239082002|Orphanet:241|ICD10:L81.8|UMLS:C2930995|DOID:0060304|OMIM:127500|UMLS:C1306229|OMIM:612715|GARD:0001996 https://rarediseases.info.nih.gov/diseases/1996/dyschromatosis-universalis-hereditaria owl:Class MONDO:0024255 biolink:NamedThing genetic skin disease An instance of skin disease that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genodermatosis|disease, genetic skin|skin disease, genetic|genetic skin disease|diseases, genetic skin|genetic skin diseases SCTID:239001006|MESH:D012873 owl:Class MONDO:0009986 biolink:NamedThing retinopathy, pigmentary, and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl retinopathy pigmentary mental retardation|retinopathy pigmentary intellectual disability|Mirhosseini-Holmes-Walton syndrome|retinal pigmentary degeneration, microcephaly, and severe mental retardation|retinopathy, pigmentary, and mental retardation|retinopathy, pigmentary, and intellectual disability|retinal pigmentary degeneration, microcephaly, and severe intellectual disability OMIM:268050|MESH:C538367|GARD:0004688|Orphanet:3084 owl:Class UBERON:0004864 biolink:NamedThing vasculature of retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002203 biolink:NamedThing vasculature of eye tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016597 biolink:NamedThing amino acid binding Binding to an amino acid, organic acids containing one or more amino substituents. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043177 biolink:NamedThing organic acid binding Binding to an organic acid, any acidic compound containing carbon in covalent linkage. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009327 biolink:NamedThing heart, malformation of tmpaxzxjjyw_mondo_relaxed.owl heart, malformation of OMIM:234750|OMIM:140500 owl:Class UBERON:0004409 biolink:NamedThing distal epiphysis of phalanx of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004379 biolink:NamedThing distal epiphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015600 biolink:NamedThing X-linked intellectual disability, Cilliers type X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). tmpaxzxjjyw_mondo_relaxed.owl X-linked intellectual disability-microcephaly-testicular failure syndrome ICD10:Q87.8|SCTID:719013004|UMLS:CN226710|Orphanet:163971 owl:Class MONDO:0020119 biolink:NamedThing X-linked syndromic intellectual disability A syndromic intellectual disability with an X-linked mode of inheritance. tmpaxzxjjyw_mondo_relaxed.owl syndromic intellectual disability, X-linked|syndromic X-linked intellectual disability|mental retardation, X-linked syndromic|syndromic X-linked mental retardation|intellectual disability, X-linked syndromic|X-linked syndromic intellectual disability Orphanet:98464|DOID:0060309|OMIMPS:309510 owl:Class MONDO:0014921 biolink:NamedThing developmental and epileptic encephalopathy, 43 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene. tmpaxzxjjyw_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in GABRB3|GABRB3 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 43|epileptic encephalopathy, early infantile, 43; EIEE43|epileptic encephalopathy, early infantile, 43|EIEE43|DEE43 UMLS:C4310712|OMIM:617113|DOID:0080447 owl:Class UBERON:0000365 biolink:NamedThing urothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000486 biolink:NamedThing multilaminar epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003050 biolink:NamedThing lung large cell carcinoma A poorly differentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular or squamous differentiation. There is a male predilection. tmpaxzxjjyw_mondo_relaxed.owl lung large cell carcinoma|large cell carcinoma of the lung|large cell lung cancer|anaplastic lung carcinoma|large cell lung carcinoma|LCLC|large cell undifferentiated lung carcinoma|large cell carcinoma of lung ONCOTREE:LCLC|ICD9:162.9|NCIT:C4450|SCTID:254629004|EFO:1000016|DOID:4556|UMLS:C0345958|EFO:0003050 MONDO:0006024 owl:Class MONDO:0005233 biolink:NamedThing non-small cell lung carcinoma A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy. tmpaxzxjjyw_mondo_relaxed.owl non-small cell carcinoma of the lung|non-small cell lung cancer|NSCLC - non-small cell lung cancer|non-small cell carcinoma of lung|non-small cell lung carcinoma|non-small cell lung carcinoma (disease)|non-small cell cancer of lung|NSCLC|non-small cell cancer of the lung non-small cell lung carcinoma (disease) SCTID:254637007|UMLS:C0007131|Orphanet:488201|HP:0030358|MESH:D002289|ONCOTREE:NSCLC|OMIM:211980|DOID:3908|EFO:0003060|NCIT:C2926|KEGG:05223|ICD10:C34 owl:Class CL:0000961 biolink:NamedThing Bm1 B cell A follicular B cell that is IgD-positive, CD23-negative, and CD38-negative. This naive cell type is activated in the extrafollicular areas through interaction with interdigitating dendritic cells and antigen-specific CD4-positive T cells. tmpaxzxjjyw_mondo_relaxed.owl Bm1 B-cell|Bm1 B-lymphocyte|Bm1 B lymphocyte These cells are also reportedly CD10-negative, CD39-positive, CD44-positive, CD71-negative, CD77-negative, IgM-positive, IgG-negative, IgA-negative, and IgE-negative. cell owl:Class CL:0002056 biolink:NamedThing Fraction F mature B cell A mature B cell subset originally defined as having being CD45R-positive, IgM-positive, IgD-positive and CD43-negative. Subsequent research demonstrated being CD21-positive and CD23-negative and CD93 negative. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-04-30T03:01:48Z cell owl:Class MONDO:0022946 biolink:NamedThing deafness progressive cataract autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl GARD:0001702 https://rarediseases.info.nih.gov/diseases/1702/deafness-progressive-cataract-autosomal-dominant owl:Class UBERON:2002162 biolink:NamedThing ural vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001095 biolink:NamedThing caudal vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0044108 biolink:NamedThing cellular alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, carried out at the level of an individual cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0044107 biolink:NamedThing cellular alcohol metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00002470 biolink:NamedThing food object quality tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001241 biolink:NamedThing physical object quality A quality which inheres in a continuant. tmpaxzxjjyw_mondo_relaxed.owl monadic quality of an object|monadic quality of continuant|quality of a continuant|quality of a single physical entity|multiply inhering quality of a physical entity|monadic quality of a continuant|quality of an object|quality of continuant owl:Class MONDO:0017128 biolink:NamedThing inherited digestive tract tumor tmpaxzxjjyw_mondo_relaxed.owl genetic digestive tract tumor UMLS:CN202527|Orphanet:271835 owl:Class MONDO:0010693 biolink:NamedThing nystagmus 1, congenital, X-linked Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital nystagmus caused by mutation in FRMD7|Nystagmus, congenital motor, 1|Nystagmus, infantile periodic alternating, X-linked|Nystagmus 1, congenital, X- linked|Nystagmus, infantile idiopathic|NYSTAGMUS 1, congenital, X-linked|Xlpan|nystagmus 1, congenital, X-linked|NYS1|FRMD7 congenital nystagmus|Nystagmus, infantile idiopathic, formerly|Nystagmus 1, infantile, X-linked OMIM:310700|UMLS:C1839580|GARD:0002969 https://rarediseases.info.nih.gov/diseases/2969/nystagmus-1-congenital-x--linked owl:Class MONDO:0005712 biolink:NamedThing congenital nystagmus Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275) tmpaxzxjjyw_mondo_relaxed.owl motor congenital nystagmus|nystagmus|congenital pathologic nystagmus|congenital idiopathic nystagmus|nystagmus, congenital ICD9:379.51|OMIM:300589|ICD10:H55.01|MESH:D020417|SCTID:64635004|OMIM:164100|OMIM:608345|EFO:0007217|OMIM:300814|OMIM:614826|HP:0000639|OMIMPS:310700|OMIM:193003|Orphanet:651|DOID:9649 owl:Class GO:1904411 biolink:NamedThing positive regulation of secretory granule organization Any process that activates or increases the frequency, rate or extent of secretory granule organization. tmpaxzxjjyw_mondo_relaxed.owl up regulation of secretory granule organization|up regulation of secretory granule organisation|activation of secretory granule organization and biogenesis|up-regulation of secretory granule organization and biogenesis|upregulation of secretory granule organization and biogenesis|upregulation of secretory granule organization|upregulation of secretory granule organisation|up-regulation of secretory granule organisation|activation of secretory granule organisation|activation of secretory granule organization|up regulation of secretory granule organization and biogenesis|up-regulation of secretory granule organization|positive regulation of secretory granule organization and biogenesis|positive regulation of secretory granule organisation owl:Class GO:1904409 biolink:NamedThing regulation of secretory granule organization Any process that modulates the frequency, rate or extent of secretory granule organization. tmpaxzxjjyw_mondo_relaxed.owl regulation of secretory granule organization and biogenesis|regulation of secretory granule organisation owl:Class HP:0002829 biolink:NamedThing Arthralgia Joint pain. tmpaxzxjjyw_mondo_relaxed.owl Joint pains|Arthralgias|Arthritic pain|Joint pain MSH:D018771|UMLS:C0003862|SNOMEDCT_US:57676002 Arthralgia is distinct from Arthritis, which is not a symptom but a diagnosis with articular inflammation or signs of osteoarthritis. human_phenotype owl:Class HP:0012531 biolink:NamedThing Pain An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. tmpaxzxjjyw_mondo_relaxed.owl Pain SNOMEDCT_US:22253000|UMLS:C0030193|MSH:D010146 peter 2013-12-15T09:38:08Z human_phenotype owl:Class HGNC:4799 biolink:NamedThing HADH tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010558 biolink:NamedThing negative regulation of macromolecule biosynthetic process Any process that decreases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009890 biolink:NamedThing negative regulation of biosynthetic process Any process that stops, prevents, or reduces the rate of the chemical reactions and pathways resulting in the formation of substances. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of anabolism|negative regulation of biosynthesis|inhibition of biosynthetic process|downregulation of biosynthetic process|down regulation of biosynthetic process|negative regulation of formation|down-regulation of biosynthetic process|negative regulation of synthesis owl:Class HGNC:28213 biolink:NamedThing PIGY tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015903 biolink:NamedThing hyperalphalipoproteinemia An autosomal dominant genetic condition caused by mutation(s) in the CETP gene, encoding cholesteryl ester transfer protein. Affected individuals may have increased longevity due to decreased risk of coronary heart disease. tmpaxzxjjyw_mondo_relaxed.owl HALP1 NCIT:C128806|ICD9:272.4|UMLS:C0342883|SCTID:238080004|Orphanet:181428|ICD10:E78.4 owl:Class MONDO:0037748 biolink:NamedThing hyperlipoproteinemia An elevated concentration of lipoproteins. tmpaxzxjjyw_mondo_relaxed.owl hyperlipoproteinemia HP:0010980|UMLS:C0020476|NCIT:C34709 owl:Class UBERON:0011588 biolink:NamedThing pre-enamel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010365 biolink:NamedThing odontoid tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001065 biolink:NamedThing supine hypotensive syndrome A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. tmpaxzxjjyw_mondo_relaxed.owl maternal hypotension syndrome|antepartum maternal hypotension syndrome|postpartum maternal hypotension syndrome HP:0008071|DOID:10556|ICD9:669.20|SCTID:88887003 owl:Class MONDO:0024575 biolink:NamedThing pregnancy disorder A disorder that is related to pregnancy. Representative examples include ectopic pregnancy, toxemia of pregnancy, and gestational trophoblastic tumor. tmpaxzxjjyw_mondo_relaxed.owl complication, pregnancy|pregnancy disease|disorder of pregnancy|disorder of pregnancy, childbirth, or puerperium|Complications, pregnancy|complication of pregnancy or childbirth|pregnancy disorder|pregnancy complication SCTID:173300003|MESH:D011248|NCIT:C35169 owl:Class MONDO:0007193 biolink:NamedThing primary biliary cholangitis 1 tmpaxzxjjyw_mondo_relaxed.owl biliary cirrhosis, primary, 1|Pbc|PBC1 OMIM:109720|UMLS:C0008312|Orphanet:186|UMLS:CN029380 owl:Class MONDO:0005388 biolink:NamedThing primary biliary cholangitis Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure. tmpaxzxjjyw_mondo_relaxed.owl PBC|biliary liver cirrhosis|cholestatic cirrhosis|primary biliary cirrhosis|primary Bilary cirrhosis (PBC)|biliary cirrhosis, primary|chronic nonsuppurative destructive cholangitis|familial primary biliary cirrhosis|chronic non-suppurative destructive cholangitis|Hanot syndrome OMIM:613008|OMIM:613007|MESH:D008105|OMIMPS:109720|SCTID:31712002|OMIM:614221|MedDRA:10019137|MedDRA:10004661|OMIM:614220|ICD10:K74.3|OMIM:109720|ICD10:K74.5|UMLS:C0008312|DOID:12236|Orphanet:186|EFO:0004267|ICD9:571.6|GARD:0007459|NCIT:C27167 owl:Class MONDO:0014002 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 5 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nocturnal frontal lobe epilepsy type 5|KCNT1 autosomal dominant nocturnal frontal lobe epilepsy|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1|nocturnal frontal lobe epilepsy 5|epilepsy, nocturnal frontal lobe, type 5|ENFL5|epilepsy, nocturnal frontal lobe, 5 UMLS:C3554306|Orphanet:98784|OMIM:615005|DOID:0060686 owl:Class MONDO:0000030 biolink:NamedThing sleep-related hypermotor epilepsy tmpaxzxjjyw_mondo_relaxed.owl epilepsy, nocturnal frontal lobe|sleep-related hypermotor epilepsy OMIMPS:600513 https://github.com/monarch-initiative/mondo/issues/3891 owl:Class UBERON:0002369 biolink:NamedThing adrenal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015212 biolink:NamedThing lateral structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100311 biolink:NamedThing sensory ataxia Any ataxia in which the causes of the disease is a perturbation of the sensory system, leading to its dysfunction. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100308 biolink:NamedThing atactic disorder A central nervous system disease that consists of gait impairment, unclear (“scanning”) speech, visual blurring due to nystagmus, hand incoordination, and tremor with movement. tmpaxzxjjyw_mondo_relaxed.owl ataxia|ataxic disorder http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0020678 biolink:NamedThing sensorineural hearing loss disorder Hearing loss in which the root cause lies in the inner ear or sensory organ (cochlea and associated structures) or the vestibulocochlear nerve (cranial nerve VIII). tmpaxzxjjyw_mondo_relaxed.owl sensorineural hearing loss disorder|neurosensory deafness|SNHL|sensorineural deafness|sensorineural hearing loss HP:0000407|NCIT:C26739|SCTID:60700002 owl:Class MONDO:0005365 biolink:NamedThing hearing loss disorder A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central. tmpaxzxjjyw_mondo_relaxed.owl hypoacuses|hypoacusis|loss of hearing|hearing impairment|hearing loss|loss, hearing|deafness EFO:0004238|ICD9:389.9|SCTID:15188001|ICD10:H90|ICD9:389.8|NCIT:C35731|ICD9:389|UMLS:C1384666|MESH:D034381 owl:Class MONDO:0005200 biolink:NamedThing viral dilated cardiomyopathy An dilated cardiomyopathy caused by infection with Viruses. tmpaxzxjjyw_mondo_relaxed.owl Viruses caused dilated cardiomyopathy|Viruses dilated cardiomyopathy Wikipedia:Viral_cardiomyopathy|UMLS:C0264797|EFO:0002629|SCTID:30496006 owl:Class MONDO:0005021 biolink:NamedThing dilated cardiomyopathy Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure. tmpaxzxjjyw_mondo_relaxed.owl congestive cardiomyopathy|dilated cardiomyopathy|idiopathic dilation cardiomyopathy|primary dilated cardiomyopathy|familial dilated cardiomyopathy SCTID:195021004|OMIM:115200|UMLS:C0007193|Orphanet:217604|HP:0001644|NCIT:C84673|ICD10:I42.0|MP:0002795|EFO:0000407|ICD9:425.4|KEGG:05414|MedDRA:10056370|OMIM:615916|DOID:12930|MESH:D002311 owl:Class MONDO:0005730 biolink:NamedThing Dictyocaulus infectious disease Infection with nematodes of the genus dictyocaulus. In deer, cattle, sheep, and horses the bronchi are the site of infestation. tmpaxzxjjyw_mondo_relaxed.owl Dictyocaulus caused disease or disorder|infections, Dictyocaulus|Dictyocaulus infection|Dictyocauliasis|Dictyocauliases|infection, Dictyocaulus|Dictyocaulus disease or disorder MESH:D004022|UMLS:C0012118|EFO:0007235 MONDO:0025190 owl:Class MONDO:0025082 biolink:NamedThing helminthiasis, animal Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary. tmpaxzxjjyw_mondo_relaxed.owl animal helminthiasis|animal Helminthiases|Helminthiases, animal MESH:D006374|UMLS:C0018891 owl:Class UBERON:0000398 biolink:NamedThing cartilage tissue of sternum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002418 biolink:NamedThing cartilage tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011121 biolink:NamedThing paragangliomas 2 Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene. tmpaxzxjjyw_mondo_relaxed.owl PGL2|paragangliomas type 2|SDHAF2 paraganglioma|paraganglioma caused by mutation in SDHAF2|SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)|paragangliomas 2|glomus tumors, familial, 2 MESH:C566646|OMIM:601650|Orphanet:29072|GARD:0010544 https://rarediseases.info.nih.gov/diseases/10544/paragangliomas-2 owl:Class MONDO:0006295 biolink:NamedThing malignant urinary system neoplasm A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas. tmpaxzxjjyw_mondo_relaxed.owl renal system cancer|urinary system cancer|malignant urinary system neoplasm|cancer of renal system|malignant renal system neoplasm|malignant urinary tract neoplasm|malignant neoplasm of renal system ICD10:C68.9|ICD10:C64.C68|NCIT:C9297|DOID:3996|EFO:1000363|SCTID:448233000|ICD9:189.9 owl:Class MONDO:0001360 biolink:NamedThing blind hypotensive eye tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154788|ICD9:360.41|DOID:11766|SCTID:23360000 owl:Class MONDO:0004390 biolink:NamedThing ocular hypotension Abnormally low intraocular pressure often related to chronic inflammation (uveitis). tmpaxzxjjyw_mondo_relaxed.owl hypotony of eye ICD10:H44.4|ICD10:H44.40|UMLS:C0028841|MESH:D015814|ICD9:360.30|SCTID:19721008|ICD9:360.3|DOID:790 owl:Class MONDO:0016244 biolink:NamedThing atypical hemolytic-uremic syndrome Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. tmpaxzxjjyw_mondo_relaxed.owl atypical HUS|D-HUS|D-minus hemolytic uremic syndrome (D-HUS)|atypical hemolytic uremic syndrome|hemolytic-uremic syndrome without diarrhea|non-diarrhea-associated hemolytic uremic syndrome|HUS, atypical|aHUS OMIM:612924|OMIM:615008|GARD:0006240|OMIM:612923|OMIM:612926|UMLS:C2931788|Orphanet:2134|GARD:0008702|OMIM:609814|NCIT:C123223|OMIM:235400|DOID:0080301|OMIM:612922|MESH:D065766|ICD10:D58.8|OMIM:612925 owl:Class MONDO:0003832 biolink:NamedThing complement deficiency A genetic deficiency of any of the component of the complement system (including the classical, alternative, and terminal pathway components), that can either be acquired or inherited. tmpaxzxjjyw_mondo_relaxed.owl complement activation disease|disorder of complement activation|complement deficiency disease|complement deficiency|immunodeficiency due to a complement cascade component deficiency ICD9:279.8|ICD10:D80-D89|ICD10:D84.1|SCTID:24743004|NCIT:C4691|Orphanet:459345|DOID:626|UMLS:C0272242 owl:Class MONDO:0033561 biolink:NamedThing deeah syndrome tmpaxzxjjyw_mondo_relaxed.owl DEEAH|DEEAH SYNDROME|Developmental Delay With Endocrine, Exocrine, Autonomic, and Hematologic Abnormalities OMIM:619004 owl:Class MONDO:0007893 biolink:NamedThing Noonan syndrome with multiple lentigines Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features. tmpaxzxjjyw_mondo_relaxed.owl familial multiple lentigines syndrome|lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness|progressive cardiomyopathic lentiginosis|lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes|generalized lentiginosis|Gorlin syndrome II|Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome|Noonan syndrome with multiple lentigines|Cardiomyopathic lentiginosis|lentiginosis profusa syndrome|LEOPARD syndrome|Moynahan syndrome MESH:D044542|SCTID:111306001|NCIT:C84820|UMLS:C0175704|OMIM:613707|OMIMPS:151100|OMIM:611554|UMLS:CN074218|DOID:14291|ICD9:709.09|MedDRA:10062901|Orphanet:500|GARD:0001100|ICD10:Q87.1 owl:Class MONDO:0019589 biolink:NamedThing syndromic genetic hearing loss tmpaxzxjjyw_mondo_relaxed.owl syndromic hearing loss|syndromic genetic deafness Orphanet:90642|SCTID:232333009|ICD10:H90.3|UMLS:CN206426 https://github.com/monarch-initiative/mondo/issues/551 owl:Class MONDO:0008401 biolink:NamedThing pleomorphic adenoma A neoplasm characterized by the presence of benign epithelial and myoepithelial cells and a mesenchymal component that may contain mucoid, myxoid, cartilaginous, or osseous areas. It may be completely or partially encapsulated. It occurs in the parotid gland, submandibular gland, minor salivary glands in the oral cavity, upper respiratory tract, and nasal cavity and paranasal sinuses. It usually presents as a slow growing painless mass. Infrequently, patients may present with pain and facial palsy. It may recur after excision or transform to a malignant neoplasm (carcinoma ex pleomorphic adenoma). tmpaxzxjjyw_mondo_relaxed.owl salivary gland adenoma, pleomorphic|mixed tumor of the salivary gland|Psa|tumor, mixed, benign|pleomorphic adenoma (morphologic abnormality)|pleomorphic adenoma|Sgpa|pleomorphic salivary gland adenoma DOID:452|ICDO:8940/0|EFO:1000384|OMIM:181030|ICD10:D11.0|Orphanet:454821|MESH:D008949|SCTID:447888006|NCIT:C8602 owl:Class MONDO:0007653 biolink:NamedThing genochondromatosis tmpaxzxjjyw_mondo_relaxed.owl genochondromatosis SCTID:389264005|MESH:C563215|Orphanet:85197|OMIM:137360|GARD:0010621|UMLS:C1300229|Orphanet:93398 https://rarediseases.info.nih.gov/diseases/10621/genochondromatosis owl:Class MONDO:0013184 biolink:NamedThing congenital diarrhea 5 with tufting enteropathy Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure. tmpaxzxjjyw_mondo_relaxed.owl intestinal epithelial dysplasia|tufting enteropathy|congenital familial intractable diarrhea with epithelial or epithelium abnormalities|intestinal epithelial cell dysplasia|congenital tufting enteropathy|enteropathy, congenital tufting|DIAR5|EPCAM secretory diarrhea|congenital enteropathy|congenital diarrhea 5 with tufting enteropathy|secretory diarrhea caused by mutation in EPCAM|congenital familial intractable diarrhea with enterocytes assembly abnormalities|diarrhea 5, with tufting enteropathy, congenital|IED MESH:C567703|OMIM:613217|Orphanet:92050|UMLS:C2750737|DOID:0060776|ICD10:P78.3|GARD:0010630|SCTID:715669000|UMLS:C4275062 owl:Class MONDO:0000249 biolink:NamedThing secretory diarrhea Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. tmpaxzxjjyw_mondo_relaxed.owl HP:0005208|UMLS:C0267557|SCTID:15699003|DOID:0050129 owl:Class ENVO:01000801 biolink:NamedThing star An astronomical object which is composed primarily of luminous plasma held in a spherical form by gravitational forces. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000799 biolink:NamedThing astronomical body An object which is naturally occuring, bound together by gravitational or electromagnetic forces, and surrounded by space. tmpaxzxjjyw_mondo_relaxed.owl celestial body owl:Class HGNC:3495 biolink:NamedThing ETV6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17084 biolink:NamedThing SYNE2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002078 biolink:NamedThing heart septal defect A congenital disorder characterized by the presence of an abnormal communication between the atria or the ventricles of the heart due to defects in the cardiac septum. tmpaxzxjjyw_mondo_relaxed.owl congenital septal defect of heart|holes in the heart|Cardiac septal defects|septal defect|congenital septal defect NCIT:C84482|ICD9:745.9|ICD10:Q21.9|MESH:D006343|ICD10:Q21|DOID:1681|ICD9:745.8|UMLS:C0018816|SCTID:253273004 owl:Class MONDO:0005453 biolink:NamedThing congenital heart disease A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale. tmpaxzxjjyw_mondo_relaxed.owl heart malformation|defects, congenital heart|heart-congenital defect|abnormalities, heart|congenital heart defects|heart abnormalities|Abnormality, heart|congenital heart defect|heart, malformation Of|congenital anomaly of heart|heart abnormality|defect, congenital heart|heart defect|heart defect, congenital NCIT:C95834|UMLS:CN169364|ICD9:746.89|OMIM:615779|EFO:0005207|MESH:D006330|SCTID:13213009|ICD9:746.84|DOID:1682|ICD10:Q24.9|OMIM:106700|ICD9:746.9 owl:Class MONDO:0010039 biolink:NamedThing congenital heart defect-round face-developmental delay syndrome Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl Sonoda syndrome|round face with depressed nasal Bridge and small mouth, congenital heart defect, and retarded development Orphanet:1355|OMIM:270460|UMLS:C0796162|ICD10:Q87.8|GARD:0004905|SCTID:715987000|MESH:C536680 owl:Class CHEBI:44185 biolink:NamedThing methotrexate tmpaxzxjjyw_mondo_relaxed.owl Trexall|Ledertrexate|METHOTREXATE|methotrexatum|methotrexate|Rheumatrex|N-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzoyl)-L-glutamic acid|Emtexate|Methotrexate|MTX|metotrexato|N-[4-[[(2,4-diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid|4-amino-10-methylfolic acid|4-amino-N(10)-methylpteroylglutamic acid owl:Class CHEBI:35692 biolink:NamedThing dicarboxylic acid Any carboxylic acid containing two carboxy groups. tmpaxzxjjyw_mondo_relaxed.owl Dicarboxylic acid|dicarboxylic acids owl:Class UBERON:0011953 biolink:NamedThing stomach glandular region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009870 biolink:NamedThing zone of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016360 biolink:NamedThing marcothrombocytopenia with mitral valve insufficiency Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency. tmpaxzxjjyw_mondo_relaxed.owl ICD10:D69.4|Orphanet:220448 owl:Class MONDO:0018795 biolink:NamedThing syndromic constitutional thrombocytopenia tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776900|Orphanet:477794 owl:Class MONDO:0007454 biolink:NamedThing type 1 diabetes mellitus 2 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the INS gene. tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 2|insulin-dependent diabetes mellitus 2|INS type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, type 2|type 1 diabetes mellitus caused by mutation in INS|IDDM2 OMIM:125852|ICD10:E10|DOID:0110741|UMLS:C1852092|MESH:C565100 owl:Class MONDO:0009319 biolink:NamedThing pantothenate kinase-associated neurodegeneration Pantothenate kinase-associated neurodegeneration (PKAN) is the most common type of neurodegeneration with brain iron accumulation (NBIA), a rare neurodegenerative disorder characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation on the brain and axonal spheroids in the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl brain iron accumulation type I syndrome|PKAN|neuroaxonal dystrophy, late infantile|Hallervorden-Spatz disease|neurodegeneration with brain iron accumulation type 1|pigmentary pallidal degeneration|Pkan neuroaxonal dystrophy, juvenile-onset|NBIA1|pantothenate kinase-associated neurodegeneration|neurodegeneration with brain iron accumulation 1|Hallervorden-Spatz syndrome Orphanet:157850|OMIM:234200|ICD9:333.0|UMLS:C0018523|NCIT:C84988|GARD:0006564|MESH:D006211|SCTID:2992000|DOID:3981|ICD10:G23.0 owl:Class MONDO:0017760 biolink:NamedThing disorder of other vitamins and cofactors metabolism and transport tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227204|Orphanet:309833 owl:Class OBI:0000112 biolink:NamedThing specimen role a role borne by a material entity that is gained during a specimen collection process and that can be realized by use of the specimen in an investigation tmpaxzxjjyw_mondo_relaxed.owl owl:Class BFO:0000023 biolink:NamedThing role A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014577 biolink:NamedThing short-rib thoracic dysplasia 13 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23. tmpaxzxjjyw_mondo_relaxed.owl short-rib thoracic dysplasia 13 with or without polydactyly|SRTD13 UMLS:C4225378|OMIM:616300|DOID:0110093|Orphanet:474|ICD10:Q77.2 owl:Class MONDO:0018770 biolink:NamedThing Jeune syndrome Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. tmpaxzxjjyw_mondo_relaxed.owl infantile thoracic dystrophy|ATD|Jeune's syndrome|JATD|asphyxiating thoracic dystrophy|short-rib thoracic dysplasia with or without polydactyly|Chondroectodermal dysplasia-like syndrome|Jeune asphyxiating thoracic dystrophy|asphyxiating thoracic dystrophy of the newborn|short-rib thoracic dysplasia|Jeune syndrome|thoracic pelvic phalangeal dystrophy UMLS:C0265275|OMIM:613091|OMIMPS:208500|OMIM:615633|NCIT:C84794|MedDRA:10057621|GARD:0003049|OMIM:615630|OMIM:611263|MESH:C537571|DOID:0050592|OMIM:616300|OMIM:614376|Orphanet:474|ICD10:Q77.2|OMIM:613819|SCTID:75049004|OMIM:208500|OMIM:617088 owl:Class HGNC:30172 biolink:NamedThing STRADA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010167 biolink:NamedThing urocanic aciduria Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date. tmpaxzxjjyw_mondo_relaxed.owl urocanic aciduria|urocanic aciduria (disease)|urocanase deficiency|UROCD|encephalopathy due to urocanase deficiency urocanic aciduria (disease) Orphanet:210128|GARD:0008539|HP:0012237|SCTID:60952007|UMLS:C0268514|MESH:C536479|ICD10:E70.8|OMIM:276880 owl:Class MONDO:0019213 biolink:NamedThing cerebral organic aciduria A inherited organic acidemia that involves the brain. tmpaxzxjjyw_mondo_relaxed.owl brain inherited organic acidemia|inherited organic acidemia of brain Orphanet:79158 owl:Class UBERON:0012357 biolink:NamedThing digitopodium bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011250 biolink:NamedThing autopod bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031338 biolink:NamedThing regulation of vesicle fusion Any process that modulates the frequency, rate or extent of vesicle fusion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000201 biolink:NamedThing Pierre-Robin sequence Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. tmpaxzxjjyw_mondo_relaxed.owl Pierre-robin deformity|Pierre-robin anomaly|Pierre-robin malformation|Robin sequence|Pierre Robin sequence SNOMEDCT_US:4602007|MSH:D010855|UMLS:C0031900 human_phenotype owl:Class HP:0031816 biolink:NamedThing Abnormal oral morphology Any structural anomaly of the mouth, which is also known as the oral cavity. tmpaxzxjjyw_mondo_relaxed.owl 2018-04-29 14:55:47+00:00 peter human_phenotype owl:Class MONDO:0012596 biolink:NamedThing PSAT deficiency Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia. tmpaxzxjjyw_mondo_relaxed.owl PSATD|PSAT deficiency|phosphoserine aminotransferase deficiency OMIM:610992|GARD:0013273|ICD10:E72.8|DOID:0050723|UMLS:C1970253|MESH:C567032|SCTID:718603002|Orphanet:284417 owl:Class MONDO:0018162 biolink:NamedThing neurometabolic disorder due to serine deficiency Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency. tmpaxzxjjyw_mondo_relaxed.owl neurometabolic disorder due to serine deficiency|serine deficiency UMLS:CN227274|ICD10:E72.8|Orphanet:35705 This term was considered for obsoletion, but it is used by ClinGen and they requested we keep it. MONDO_0019058 https://github.com/monarch-initiative/mondo/issues/3886#issuecomment-993772000 owl:Class UBERON:0007747 biolink:NamedThing metacarpophalangeal joint of manual digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003695 biolink:NamedThing metacarpophalangeal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011149 biolink:NamedThing premature aging syndrome, Okamoto type tmpaxzxjjyw_mondo_relaxed.owl premature aging syndrome, Okamoto type|premature aging syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delay|premature aging Okamoto type UMLS:C1866183|OMIM:601811|GARD:0004478|MESH:C566621 owl:Class MONDO:0019303 biolink:NamedThing premature aging syndrome Changes in the organism associated with senescence, occurring at an accelerated rate. tmpaxzxjjyw_mondo_relaxed.owl premature aging Orphanet:79389|MedDRA:10063493|MESH:D019588 owl:Class MONDO:0030059 biolink:NamedThing developmental and epileptic encephalopathy, 87 tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 87|DEE87|EIEE87|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 87 OMIM:618916 owl:Class UBERON:0003466 biolink:NamedThing forelimb zeugopod bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001474 biolink:NamedThing bone element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002092 biolink:NamedThing small intestine leiomyoma A benign smooth muscle neoplasm arising from the small intestine. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl small bowel leiomyoma|leiomyoma of small intestine|leiomyoma of the small bowel|small intestinal leiomyoma|leiomyoma of small bowel|small intestine leiomyoma|leiomyoma, small bowel|leiomyoma of the small intestine|leiomyoma, small intestine UMLS:C0238197|SCTID:424279009|DOID:1738|NCIT:C7725 owl:Class MONDO:0021501 biolink:NamedThing benign neoplasm of small intestine A benign neoplasm that involves the small intestine. tmpaxzxjjyw_mondo_relaxed.owl benign small intestinal tumor|benign tumor of the small intestine|benign small intestine tumor|small intestine benign neoplasm|benign neoplasm of the small intestine|benign small intestinal neoplasm|benign tumor of small intestine|benign small intestine neoplasm SCTID:92385005|ICD9:211.2|UMLS:C0153944|NCIT:C3600 owl:Class MONDO:0018506 biolink:NamedThing mesenchymal tumor of small intestine tmpaxzxjjyw_mondo_relaxed.owl mesenchymal tumor of small bowel Orphanet:423798|UMLS:CN237511 owl:Class MONDO:0004251 biolink:NamedThing small intestine neoplasm A benign or malignant neoplasm that affects the small intestine. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. tmpaxzxjjyw_mondo_relaxed.owl tumor of small intestine|tumor of the small bowel|tumor of the small intestine|small intestine neoplasm (disease)|neoplasm of small bowel|small intestine tumor|small bowel neoplasm|small intestinal neoplasm|neoplasm of the small intestine|tumor of small bowel|neoplasm of the small bowel|small bowel tumor|neoplasm of small intestine|small intestine neoplasm UMLS:C0345832|SCTID:126832004|DOID:7505|NCIT:C4432 owl:Class NCBITaxon:2732408 biolink:NamedThing Pisuviricota tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732396 biolink:NamedThing Orthornavirae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020466 biolink:NamedThing monosomy X tmpaxzxjjyw_mondo_relaxed.owl monosomy type X UMLS:C0041408|UMLS:CN776902|ICD10:Q96.9|SCTID:710008008|Orphanet:99226|NCIT:C36630 owl:Class MONDO:0020639 biolink:NamedThing monosomy A chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number. tmpaxzxjjyw_mondo_relaxed.owl monosomy MESH:D009006|NCIT:C3239 owl:Class MONDO:0016525 biolink:NamedThing familial hyperaldosteronism Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol. tmpaxzxjjyw_mondo_relaxed.owl hereditary hyperaldosteronism|genetic hyperaldosteronism|FH Orphanet:235936|ICD10:E26.0|UMLS:CN229602|OMIMPS:103900|Orphanet:371861|UMLS:C3713420|SCTID:703231005|MESH:C580087|NCIT:C127160 owl:Class MONDO:0001422 biolink:NamedThing primary aldosteronism An endocrine disorder characterized by excessive production of aldosterone by the adrenal glands. Causes include adrenal gland adenoma and adrenal gland hyperplasia. The overproduction of aldosterone results in sodium and water retention and hypokalemia. Patients present with high blood pressure, muscle weakness, and headache. tmpaxzxjjyw_mondo_relaxed.owl Conn syndrome|primary hyperaldosteronism|Conn's syndrome|primary aldosteronism DOID:12028|ICD9:255.12|ICD10:E26.01|ICD10:E26.0|SCTID:190507007|NCIT:C34510 Editor note: DOID class refers to adenoma-caused Conn syndrome owl:Class GO:0045652 biolink:NamedThing regulation of megakaryocyte differentiation Any process that modulates the frequency, rate or extent of megakaryocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006997 biolink:NamedThing tibial neuropathy Disease of the tibial nerve (also referred to as the posterior tibial nerve). The most commonly associated condition is the tarsal tunnel syndrome. However, leg injuries; ischemia; and inflammatory conditions (e.g., collagen diseases) may also affect the nerve. Clinical features include paralysis of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32) tmpaxzxjjyw_mondo_relaxed.owl tibial neuropathy (disorder) [ambiguous]|Posterior tibial neuropathy EFO:1001213|SCTID:399076001|DOID:1187|UMLS:C0751932|MESH:D020429 owl:Class MONDO:0001397 biolink:NamedThing mononeuropathy Disease or trauma involving a single peripheral nerve in isolation, or out of proportion to evidence of diffuse peripheral nerve dysfunction. Mononeuropathy multiplex refers to a condition characterized by multiple isolated nerve injuries. Mononeuropathies may result from a wide variety of causes, including ischemia; traumatic injury; compression; connective tissue diseases; cumulative trauma disorders; and other conditions. tmpaxzxjjyw_mondo_relaxed.owl SCTID:128189008|MESH:D020422|DOID:1188|ICD10:G58.9|UMLS:C0494491 owl:Class MONDO:0000079 biolink:NamedThing nephrolithiasis/osteoporosis, hypophosphatemic tmpaxzxjjyw_mondo_relaxed.owl DOID:0080655|OMIMPS:612286 owl:Class UBERON:0006217 biolink:NamedThing cloacal membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000158 biolink:NamedThing membranous layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008859 biolink:NamedThing berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification tmpaxzxjjyw_mondo_relaxed.owl cerebral aneurysm-cirrhosis syndrome|berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification UMLS:C1859519|GARD:0008552|MESH:C565905|OMIM:210050 https://rarediseases.info.nih.gov/diseases/8552/berry-aneurysm-cirrhosis-pulmonary-emphysema-and-cerebral-calcification owl:Class MONDO:0011059 biolink:NamedThing holoprosencephaly-craniosynostosis syndrome Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features. tmpaxzxjjyw_mondo_relaxed.owl holoprosencephaly, SEMILOBAR, with craniosynostosis|Genoa syndrome|Camero-Lituania-Cohen syndrome|camera Lituania Cohen syndrome|holoprosencephaly craniosynostosis|Semilobar holoprosencephaly and primary craniosynostosis GARD:0002454|SCTID:715434005|MESH:C537684|ICD10:Q04.2|Orphanet:2163|OMIM:601370|UMLS:C1832424 owl:Class MONDO:0015338 biolink:NamedThing syndromic craniosynostosis A craniosynostosis that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with craniosynostosis|syndromic craniosynostosis Orphanet:139393|UMLS:CN226660 owl:Class MONDO:0021777 biolink:NamedThing acute rheumatic heart disease Pancarditis, involving inflammation of the endocardium, myocardium, and epicardium. It results from an autoimmune reaction following an infection with Streptococcus pyogenes (Group A Streptococci). tmpaxzxjjyw_mondo_relaxed.owl acute Rheumatic Heart Disease|acute rheumatic fever with heart involvement|acute rheumatic carditis|active rheumatic fever with heart involvement|acute rheumatic heart disease|Active rheumatic fever with heart involvement NCIT:C34985|UMLS:C0035440|SCTID:312591002|ICD9:391.9|ICD9:391.8 owl:Class MONDO:0006955 biolink:NamedThing rheumatic heart disease An autoinflammatory condition following an infection with Group A Beta Hemolytic Streptococcus (GABHS), in which the heart is attacked by antibodies formed in reaction to a recent GABHS infection. Chief anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords, all of which can result in valvular dysfunction. tmpaxzxjjyw_mondo_relaxed.owl disease, rheumatic heart|RHD|heart disease, rheumatic|rheumatic carditis SCTID:23685000|ICD9:398.99|ICD9:398.90|NCIT:C34882|MESH:D012214|EFO:1001161|MedDRA:10062110|DOID:0050827|ICD10:I05.I09 owl:Class MONDO:0001468 biolink:NamedThing synovial plica syndrome tmpaxzxjjyw_mondo_relaxed.owl plica syndrome|synovial plica of knee ICD10:M67.5|ICD9:727.9|SCTID:240171001|ICD9:727.83|DOID:12225|UMLS:C0410485 owl:Class MONDO:0056799 biolink:NamedThing synovium disorder A disease or disorder that involves the layer of synovial tissue. tmpaxzxjjyw_mondo_relaxed.owl disease of layer of synovial tissue|disease or disorder of layer of synovial tissue|layer of synovial tissue disease or disorder|disorder of layer of synovial tissue|layer of synovial tissue disease|disorder of synovium ICD9:727.9|ICD9:727.89|SCTID:3519007|UMLS:C0263945 owl:Class MONDO:0043207 biolink:NamedThing urethral obstruction sequence tmpaxzxjjyw_mondo_relaxed.owl renal dysplasia or hydronephrosis, oligohydramnios and subsequent lung hypoplasia due to urethral obstruction|early urethral obstruction sequence|EUOS GARD:0005428|SCTID:18241005|MESH:C536477|UMLS:C0265363 owl:Class MONDO:0001556 biolink:NamedThing urethral obstruction Blockage of the normal flow of urine in the urethra. tmpaxzxjjyw_mondo_relaxed.owl urethral obstruction|urethral obstruction (disease)|obstruction of urethra urethral obstruction (disease) MESH:D014524|UMLS:C0041972|NCIT:C79804|ICD9:599.69|DOID:12577|HP:0000796|SCTID:95588004 owl:Class MONDO:0000383 biolink:NamedThing benign reproductive system neoplasm A non-metastasizing neoplasm that arises from the male or female reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, uterine corpus leiomyoma, and benign ovarian serous tumor. tmpaxzxjjyw_mondo_relaxed.owl reproductive organ benign neoplasm|benign reproductive system neoplasm NCIT:C7617|DOID:0050622|UMLS:C1332536 owl:Class MONDO:0005165 biolink:NamedThing benign neoplasm A neoplasm which is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign neoplasms remain confined to the original site of growth and do not metastasize to other anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm (disease)|benign tumor|benign unclassifiable tumor|organ system benign neoplasm|cell type benign neoplasm|neoplasm, benign|benign neoplasm|neoplasm (disease), benign ICDO:8000/0|DOID:0060084|DOID:0060072|SCTID:20376005|ICD9:229.8|ICD10:D10.D36|EFO:0002422|ICD9:229.9|NCIT:C3677|DOID:0060085|ICD9:210-229.99 Editor note: see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/14 owl:Class MONDO:0002626 biolink:NamedThing spinal accessory nerve neoplasm A neoplasm involving a accessory XI nerve spinal component. tmpaxzxjjyw_mondo_relaxed.owl tumor of the spinal accessory nerve|eleventh cranial nerve neoplasms|neoplasm of the eleventh cranial nerve|neoplasm of accessory nerve|eleventh cranial nerve neoplasm|eleventh cranial nerve tumors|XIth cranial nerve tumors|neoplasm of the spinal accessory nerve|eleventh cranial nerve tumor|spinal accessory nerve neoplasms|accessory XI nerve spinal component neoplasm|tumor of the eleventh cranial nerve|tumor of spinal accessory nerve|accessory XI nerve spinal component tumor|spinal accessory nerve tumor|neoplasm of eleventh cranial nerve|accessory nerve neoplasm|accessory XI nerve spinal component neoplasm (disease)|XIth cranial nerve neoplasms|neoplasm of accessory XI nerve spinal component|neoplasm of spinal accessory nerve|spinal accessory nerve tumors|tumor of accessory XI nerve spinal component|tumor of eleventh cranial nerve|spinal accessory nerve neoplasm UMLS:C1263902|ICD9:239.7|DOID:337|SCTID:126977003|NCIT:C5829 owl:Class MONDO:0002636 biolink:NamedThing accessory nerve disorder A disease involving the accessory XI nerve. tmpaxzxjjyw_mondo_relaxed.owl accessory nerve disorder|disorder of accessory nerve|disease of accessory XI nerve|eleventh nerve disorder|disorder of 11th nerve|disease or disorder of accessory XI nerve|disorder of accessory [11th] nerve|accessory XI nerve disease|accessory XI nerve disease or disorder|disorder of the 11th nerve|disorder of accessory XI nerve SCTID:84759007|ICD9:352.4|DOID:339|MESH:D020436|NCIT:C26953|UMLS:C0152180 owl:Class HGNC:6174 biolink:NamedThing ITM2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0033365 biolink:NamedThing protein localization to organelle A process in which a protein is transported to, or maintained in, a location within an organelle. tmpaxzxjjyw_mondo_relaxed.owl protein localisation to organelle|protein localization in organelle owl:Class GO:0034613 biolink:NamedThing cellular protein localization Any process in which a protein is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpaxzxjjyw_mondo_relaxed.owl cellular protein localisation|channel localizer activity owl:Class GO:0031965 biolink:NamedThing nuclear membrane Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031090 biolink:NamedThing organelle membrane A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. tmpaxzxjjyw_mondo_relaxed.owl intracellular membrane owl:Class GO:0045717 biolink:NamedThing negative regulation of fatty acid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of fatty acid formation|inhibition of fatty acid biosynthetic process|down regulation of fatty acid biosynthetic process|downregulation of fatty acid biosynthetic process|down-regulation of fatty acid biosynthetic process|negative regulation of fatty acid synthesis|negative regulation of fatty acid anabolism|negative regulation of fatty acid biosynthesis owl:Class GO:0045922 biolink:NamedThing negative regulation of fatty acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. tmpaxzxjjyw_mondo_relaxed.owl down regulation of fatty acid metabolic process|negative regulation of fatty acid metabolism|downregulation of fatty acid metabolic process|inhibition of fatty acid metabolic process|down-regulation of fatty acid metabolic process owl:Class MONDO:0031014 biolink:NamedThing autoimmune gastritis Inflammation of the body fundic mucosa of the stomach. It results from the development of autoantibodies against the parietal and chief cells. It is associated with the presence of intestinal metaplasia and an increased risk of developing gastric carcinoma. tmpaxzxjjyw_mondo_relaxed.owl autoimmune gastritis (disease) DOID:0040090|NCIT:C95752 owl:Class MONDO:0004966 biolink:NamedThing gastritis Inflammation of the stomach. tmpaxzxjjyw_mondo_relaxed.owl stomach inflammation|acute gastric mucosal erosion|erosive gastropathy|gastritis|erosive gastritis|inflammation of stomach|gastritis (disease) gastritis (disease) UMLS:C2243088|UMLS:C0267112|SCTID:4556007|UMLS:C2243090|ICD9:535.00|ICD9:535.4|EFO:0000217|ICD9:535.0|DOID:4029|ICD10:K29.7|ICD9:535.41|HP:0005263|UMLS:C3854048|ICD9:535.40|UMLS:C0017152|ICD9:535.01|NCIT:C26780|MESH:D005756 owl:Class GO:2000825 biolink:NamedThing positive regulation of androgen receptor activity Any process that activates or increases the frequency, rate or extent of androgen receptor activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006357 biolink:NamedThing regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. tmpaxzxjjyw_mondo_relaxed.owl regulation of transcription from RNA polymerase II promoter|regulation of gene-specific transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter, global|regulation of transcription from Pol II promoter|global transcription regulation from Pol II promoter|regulation of global transcription from Pol II promoter owl:Class GO:0008080 biolink:NamedThing N-acetyltransferase activity Catalysis of the transfer of an acetyl group to a nitrogen atom on the acceptor molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016407 biolink:NamedThing acetyltransferase activity Catalysis of the transfer of an acetyl group to an acceptor molecule. tmpaxzxjjyw_mondo_relaxed.owl acetylase activity owl:Class HGNC:327 biolink:NamedThing AGPS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005749 biolink:NamedThing eosinophilic pneumonia An inflammatory lung disorder characterized by an increased number of eosinophils in the lungs. The majority of cases are idiopathic, without identifiable cause. In a minority of cases, medications, fungal infections, and environmental triggers have been implicated. It manifests as acute or chronic. Acute eosinophilic pneumonia is a severe and rapidly progressing pneumonia that may lead to respiratory failure requiring mechanical ventilation. Chronic eosinophilic pneumonia follows a slower course and manifests as fever, dyspnea, cough, and weight loss. tmpaxzxjjyw_mondo_relaxed.owl pneumonia, eosinophilic|eosinophilic pneumonia UMLS:C1527407|NCIT:C35150|DOID:5870|ICD10:J82|EFO:0007257 owl:Class MONDO:0005249 biolink:NamedThing pneumonia An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness. tmpaxzxjjyw_mondo_relaxed.owl acute pneumonia ICD9:484.8|ICD10:J15|ICD10:J18.9|ICD9:486|NCIT:C3333|UMLS:C0032285|EFO:0003106|DOID:552|MESH:D011014|ICD9:483|ICD9:483.8|SCTID:233604007 https://github.com/monarch-initiative/mondo/issues/3790 owl:Class MONDO:0008685 biolink:NamedThing Wolff-Parkinson-white syndrome A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes. tmpaxzxjjyw_mondo_relaxed.owl Wolff-Parkinson-White pattern (finding)|Wolff-Parkinson-White pattern|anomalous atrioventricular excitation|preexcitation syndrome|accessory atrioventricular pathways|Wolff-Parkinson-White syndrome|Wpw syndrome|anomalous A-V excitation|Wolff-Parkinson-white syndrome (disease)|WPW|ventricular familial preexcitation syndrome Wolff-Parkinson-white syndrome (disease) SCTID:17869006|DOID:384|EFO:1001450|ICD9:426.7|OMIM:194200|Orphanet:907|HP:0001716|NCIT:C35132|ICD10:I45.6 owl:Class MONDO:0017234 biolink:NamedThing inherited prion disease An instance of prion disease that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary prion disease|familial prion disease UMLS:CN202725|ICD10:A81.8|Orphanet:280400 owl:Class MONDO:0005429 biolink:NamedThing prion disease A transmissible disease that is caused by a protein that is able to induce abnormal folding of normal cellular proteins, leading to characteristic spongiform brain changes, which are associated with neuronal loss without an inflammatory response. Such disorders have typically long incubation periods, but are then generally rapidly progressive and are uniformly fatal. tmpaxzxjjyw_mondo_relaxed.owl prion disease pathway|prion protein disease|prion induced disorder|spongiform encephalopathy ICD10:A81.9|SCTID:230284004|DOID:649|OMIM:606688|KEGG:05020|NCIT:C128346|EFO:0004720|OMIM:245300|MESH:D017096|ICD9:046.19 Editor note: check relationship to spongiform encephalopathy NCIT:C27585 owl:Class MONDO:0005015 biolink:NamedThing diabetes mellitus A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. tmpaxzxjjyw_mondo_relaxed.owl diabetes|diabetes mellitus (disease)|DM|diabetes mellitus diabetes mellitus (disease) ICD10:E08-E13|OMIM:612227|EFO:0000400|ICD9:250|DOID:9351|ICD10:E10.E14|UMLS:C0011847|ICD10:E11|SCTID:73211009|UMLS:C0011849|HP:0000819|NCIT:C2985|MESH:D003920 owl:Class GO:0034761 biolink:NamedThing positive regulation of iron ion transmembrane transport Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl stimulation of transmembrane iron ion transport|upregulation of transmembrane iron ion transport|up regulation of transmembrane iron ion transport|positive regulation of transmembrane iron transport|up-regulation of transmembrane iron ion transport|activation of transmembrane iron ion transport|positive regulation of iron ion membrane transport|positive regulation of transmembrane iron ion transport owl:Class UBERON:0001288 biolink:NamedThing loop of Henle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007685 biolink:NamedThing region of nephron tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002183 biolink:NamedThing enthesopathy A disorder involving the attachment of a tendon or ligament to a bone tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of enthesis|disorder of enthesis|enthesis disease or disorder|disease of enthesis|enthesis disease ICD9:726.9|DOID:204|MESH:D012216|UMLS:C0242490|ICD9:726.90|ICD10:M77.9|SCTID:23680005 owl:Class MONDO:0003900 biolink:NamedThing connective tissue disorder A disease involving the connective tissue. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of connective tissue|tissue disease, connective|connective tissue disorder|disease, connective tissue|connective tissue disease|disease of connective tissue|primary disorder of connective tissue|connective tissue disorders|connective tissue diseases|connective tissue disease or disorder|disorder of connective tissue NCIT:C26729|DOID:65|SCTID:105969002|MESH:D003240|UMLS:C0009782 Following clinical usage of the term 'connective tissue disorder' this grouping excludes some diseases affecting tissues classically considered to be connective tissue, such as bone. https://github.com/monarch-initiative/mondo/issues/3570 owl:Class MONDO:0033816 biolink:NamedThing thygeson superficial punctate keratopathy An insidious, chronic and recurrent disorder, characterized by small and elevated oval corneal intraepithelial, whitish-gray opacities, extending to the entire anterior surface of the cornea of both eyes. Corneal lesions show a tendency for the central pupillary area distribution with mild or absent conjunctival inflammation and no association to systemic disease. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:519406 owl:Class MONDO:0000942 biolink:NamedThing corneal disorder A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl cornea disease or disorder|cornea disease|disorder of cornea|disease of cornea|disease or disorder of cornea|corneal disorder|corneal disease NCIT:C26731|ICD10:H18.9|SCTID:15250008|ICD9:371.30|ICD9:371.9|ICD9:371.89|DOID:10124|MESH:D003316|UMLS:C0010034 owl:Class HGNC:2204 biolink:NamedThing COL4A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901607 biolink:NamedThing alpha-amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of an alpha-amino acid. tmpaxzxjjyw_mondo_relaxed.owl alpha-amino acid formation|alpha-amino acid anabolism|alpha-amino acid biosynthesis|alpha-amino acid synthesis owl:Class GO:1901605 biolink:NamedThing alpha-amino acid metabolic process The chemical reactions and pathways involving an alpha-amino acid. tmpaxzxjjyw_mondo_relaxed.owl alpha-amino acid metabolism owl:Class MONDO:0017246 biolink:NamedThing extralobar congenital pulmonary sequestration tmpaxzxjjyw_mondo_relaxed.owl congenital extrapulmonary sequestration|extralobar congenital bronchopulmonary sequestration Orphanet:280811|ICD10:Q33.2 owl:Class MONDO:0017843 biolink:NamedThing congenital pulmonary sequestration A rare congenital abnormality of the lungs. It consists of a mass of lung parenchyma that does not communicate with the bronchial tree and receives its blood supply from the systemic circulation instead of the pulmonary circulation. tmpaxzxjjyw_mondo_relaxed.owl bronchopulmonary sequestration|congenital bronchopulmonary sequestration|congenital sequestration of lung|sequestered lobe (pulmonary sequestration)|pulmonary sequestration SCTID:18620009|Orphanet:3161|MESH:D001998|NCIT:C97124|UMLS:C4020703|GARD:0004593|ICD10:Q33.2 owl:Class GO:0048770 biolink:NamedThing pigment granule A small, subcellular membrane-bounded vesicle containing pigment and/or pigment precursor molecules. Pigment granule biogenesis is poorly understood, as pigment granules are derived from multiple sources including the endoplasmic reticulum, coated vesicles, lysosomes, and endosomes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031410 biolink:NamedThing cytoplasmic vesicle A vesicle found in the cytoplasm of a cell. tmpaxzxjjyw_mondo_relaxed.owl cytoplasmic, membrane-bounded vesicle|cytoplasmic membrane bounded vesicle|cytoplasmic membrane-enclosed vesicle owl:Class CHEBI:17359 biolink:NamedThing sulfite A sulfur oxoanion that is the conjugate base of hydrogen sulfite (H2SO3). tmpaxzxjjyw_mondo_relaxed.owl [SO3](2-)|sulfite|trioxosulfate(2-)|SO3(2-)|trioxosulfate(IV)|trioxidosulfate(2-)|SO3|SULFITE ION|sulphite owl:Class CHEBI:79388 biolink:NamedThing divalent inorganic anion Any inorganic anion with a valency of two. tmpaxzxjjyw_mondo_relaxed.owl divalent inorganic anions owl:Class MONDO:0014381 biolink:NamedThing cholestasis, progressive familial intrahepatic, 4 Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the TJP2 gene. tmpaxzxjjyw_mondo_relaxed.owl PFIC4|TJP2 deficit|progressive familial intrahepatic cholestasis caused by mutation in TJP2|cholestasis, progressive familial intrahepatic 4|progressive familial intrahepatic cholestasis type 4|cholestasis, progressive familial intrahepatic, 4|TJP2 progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic, type 4|progressive familial intrahepatic cholestasis 4 Orphanet:79304|GARD:0009803|OMIM:615878|UMLS:CN776838|Orphanet:480483|UMLS:C2931067|Orphanet:172|DOID:0070224 MONDO:0018803 owl:Class MONDO:0015762 biolink:NamedThing progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. tmpaxzxjjyw_mondo_relaxed.owl cholestasis, progressive familial intrahepatic|PFIC DOID:0070221|OMIM:615878|OMIM:601847|NCIT:C84453|OMIM:602347|UMLS:C0268312|Orphanet:172|OMIMPS:211600|OMIM:211600|ICD10:K76.8 owl:Class UBERON:0001979 biolink:NamedThing venule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003920 biolink:NamedThing venous blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015748 biolink:NamedThing hereditary mucosal leukokeratosis White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa. tmpaxzxjjyw_mondo_relaxed.owl White sponge nevus of Cannon|white sponge nevus of Cannon|hereditary mucosal leukokeratosis|white sponge nevus GARD:0008501|UMLS:C1721005|ICD10:Q38.6|OMIMPS:193900|SCTID:389203001|NCIT:C84760|OMIM:193900|Orphanet:171723|ICD9:528.6|OMIM:615785|MESH:D053529|DOID:0050448 owl:Class MONDO:0005073 biolink:NamedThing melanocytic nevus A neoplasm composed of melanocytes that usually appears as a dark spot on the skin. tmpaxzxjjyw_mondo_relaxed.owl mole|melanocytic Nevus|nevus|melanotic Nevus|mole of skin NCIT:C7570|EFO:0000625|MESH:D009506|Wikipedia:Nevus|SCTID:400096001|OMIM:162900 owl:Class MONDO:0006515 biolink:NamedThing acute pancreatitis An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs. tmpaxzxjjyw_mondo_relaxed.owl acute necrotizing pancreatitis|acute pancreatitis (disorder) [ambiguous]|pancreatitis, acute|pancreatitis necrotizing DOID:2913|Wikipedia:Acute_pancreatitis|HP:0001735|ICD10:K85|UMLS:C0267941|NCIT:C95437|ICD10:K85.9|MESH:D019283|UMLS:C0001339|EFO:1000652|ICD9:577.0|SCTID:7881005 owl:Class MONDO:0004982 biolink:NamedThing pancreatitis Inflammation of the pancreas. tmpaxzxjjyw_mondo_relaxed.owl pancreas inflammation|inflammation of pancreas MESH:D010195|NCIT:C3306|UMLS:C0030305|DOID:4989|SCTID:75694006|ICD10:K85.9|EFO:0000278 owl:Class MONDO:0003984 biolink:NamedThing internal auditory canal lipoma A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures. tmpaxzxjjyw_mondo_relaxed.owl lipoma of the internal auditory canal|lipoma of internal auditory canal|internal acoustic meatus lipoma|lipoma of internal acoustic meatus|internal Ear lipoma|inner Ear lipoma UMLS:C1334226|NCIT:C5452|DOID:6752 owl:Class MONDO:0005106 biolink:NamedThing lipoma A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. tmpaxzxjjyw_mondo_relaxed.owl lipomatous neoplasm (morphologic abnormality)|multiple lipomatosis|lipomatous neoplasm|lipoma, benign|lipomatous tumor|lipoma|benign tumor of adipose tissue|lipomatosis, familial multiple ICD10:D17|ICD9:214.9|MESH:D008067|SCTID:93163002|ICD9:214|EFO:0000759|OMIM:151900|NCIT:C3192|ICDO:8850/0|ICD10:D17.9|UMLS:C0023798|DOID:3315 owl:Class MONDO:0013279 biolink:NamedThing long QT syndrome 13 Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene. tmpaxzxjjyw_mondo_relaxed.owl long QT syndrome type 13|KCNJ5 long QT syndrome|long QT syndrome caused by mutation in KCNJ5|long QT syndrome 13|LQT13 OMIM:613485|ICD10:I45.8|Orphanet:101016|Orphanet:768|DOID:0110654|UMLS:C3150733 owl:Class MONDO:0019171 biolink:NamedThing familial long QT syndrome A hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. tmpaxzxjjyw_mondo_relaxed.owl Romano-Ward long QT syndrome|familial long QT syndrome|Ward-Romano syndrome|Romano-Ward syndrome|congenital long QT syndrome|LQTS|hereditary long QT syndrome SCTID:442917000|OMIM:611820|OMIM:612955|OMIM:613693|MedDRA:10057926|OMIM:613485|OMIM:613688|OMIM:616247|OMIM:600919|OMIM:611818|ICD10:I45.8|UMLS:C1141890|OMIM:603830|OMIM:601005|OMIM:616249|Orphanet:768|UMLS:C0035828|OMIM:612347|OMIM:611819|OMIMPS:192500|OMIM:613695|OMIM:192500|OMIM:220400 owl:Class GO:1904099 biolink:NamedThing negative regulation of protein O-linked glycosylation Any process that stops, prevents or reduces the frequency, rate or extent of protein O-linked glycosylation. tmpaxzxjjyw_mondo_relaxed.owl inhibition of protein O-linked glycosylation|downregulation of protein amino acid O-linked glycosylation|negative regulation of protein amino acid O-linked glycosylation|downregulation of protein O-linked glycosylation|inhibition of protein amino acid O-linked glycosylation|down-regulation of protein amino acid O-linked glycosylation|down regulation of protein O-linked glycosylation|down regulation of protein amino acid O-linked glycosylation|down-regulation of protein O-linked glycosylation owl:Class MONDO:0008470 biolink:NamedThing spondyloepiphyseal dysplasia with punctate corneal dystrophy tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia with punctate corneal dystrophy|spondyloepiphyseal dysplasia, Byers type Orphanet:163673|MESH:C566660|OMIM:183850|UMLS:C1866727 owl:Class UBERON:0002169 biolink:NamedThing alveolar sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007499 biolink:NamedThing epithelial sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006976 biolink:NamedThing somatostatinoma A rare, usually malignant neuroendocrine tumor arizing from delta cells. This neoplasm produces large amounts of somatostatin, which may result in a syndrome characterized by diarrhea, steatorrhea, weight loss, and gastric hyposecretion. Sixty percent are found in the pancreas and 40% in the duodenum or jejunum. The peak incidence occurs between 40 and 60 years of age; women are affected more than men by 2:1. tmpaxzxjjyw_mondo_relaxed.owl somatostatin-secreting pancreatic neoplasm|tumor of the Delta cells|tumor of Delta cells|Somatomedin-secreting carcinoid|somatostatin cell tumour|somatostatin-producing tumor|somatostatin cell tumor|somatostatin-producing NET|somatostatin producing tumor|somatostatin cell neoplasm|malignant islet cell tumor|Delta cell tumor|somatostatinoma|ampullary somatostatinoma|carcinoid somatostatinoma|somatostatin-producing neuroendocrine tumor ICD9:235.5|ICD10:E16.8|Orphanet:97283|MedDRA:10041329|EFO:1001187|ICDO:8156/1|GARD:0004900|UMLS:C0037661|MESH:D013005|SCTID:253006001|NCIT:C3379|DOID:4430 https://rarediseases.info.nih.gov/diseases/4900/somatostatinoma owl:Class MONDO:0005369 biolink:NamedThing carcinoid tumor A slow growing neuroendocrine tumor, composed of uniform, round, or polygonal cells having monotonous, centrally located nuclei and small nucleoli, infrequent mitoses, and no necrosis. The tumor may show a variety of patterns, such as solid, trabecular, and acinar. Electron microscopy shows small secretory granules. Immunohistochemical studies reveal NSE, as well as chromogranin immunoreactivity. Malignant histology (cellular pleomorphism, hyperchromatic nuclei, prominent nucleoli, necrosis, and mitoses) can occasionally be seen. Such cases may have an aggressive clinical course. Gastrointestinal tract and lung are common sites of involvement. tmpaxzxjjyw_mondo_relaxed.owl NET G1|carcinoid tumor (disease)|carcinoid tumor|carcinoid|neuroendocrine tumor G1|neuroendocrine neoplasm G1 carcinoid tumor (disease) MESH:D002276|SCTID:443492008|ICD9:209.60|GARD:0009316|ICDO:8241/3|ICDO:8240/3|EFO:0004243|OMIM:114900|NCIT:C2915|HP:0100570 Editor note: In NCIT all carcinoid tumors are grade 1, but the name is sometimes used more broadly in other sources owl:Class MONDO:0017728 biolink:NamedThing Tay-Sachs disease, B1 variant tmpaxzxjjyw_mondo_relaxed.owl GM2 gangliosidosis, B1 variant|hexosaminidase A deficiency, B1 variant Orphanet:309239|SCTID:238024005|ICD10:E75.0 owl:Class MONDO:0010100 biolink:NamedThing Tay-Sachs disease GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. tmpaxzxjjyw_mondo_relaxed.owl hexosaminidase a deficiency|TAY-Sachs disease|Tay-Sachs disease, juvenile|GM2 gangliosidosis, B, B1 variant|GM2-gangliosidosis, variant B1|Tay-Sachs disease, pseudo-Ab variant|B variant GM2 gangliosidosis|hexa deficiency|hexosaminidase A deficiency|Tay-Sachs disease|GM2 gangliosidosis, type 1|hexosaminidase a deficiency, adult type|gangliosidosis GM2, type 1|Tay-Sachs disease, variant B1|hexosaminidase alpha-subunit deficiency (variant B)|GM2-gangliosidosis, adult chronic type|disease, Tay-Sachs|TSD|B variant GM2-gangliosidosis|GM2-gangliosidosis, type 1|sphingolipidosis, Tay-Sachs MESH:D013661|Orphanet:845|OMIM:272800|UMLS:C0039373|UMLS:C1848914|GARD:0007737|ICD10:E75.0|MedDRA:10043147|ICD10:E75.02|SCTID:111385000|NCIT:C85184|DOID:3320 https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease owl:Class MONDO:0013907 biolink:NamedThing bilateral generalized polymicrogyria Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl polymicrogyria with seizures|MSSP|bilateral generalized polymicrogyria|microcephaly, short stature, and polymicrogyria with or without seizures|bilateral generalised polymicrogyria|PMGYS ICD10:Q04.3|OMIM:614833|GARD:0010786|Orphanet:268940|Orphanet:208447|UMLS:C3553831 https://rarediseases.info.nih.gov/diseases/10786/bilateral-generalized-polymicrogyria owl:Class MONDO:0018764 biolink:NamedThing microcephalic primordial dwarfism due to RTTN deficiency Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported. tmpaxzxjjyw_mondo_relaxed.owl OMIM:614833|Orphanet:468631 owl:Class ECTO:0001057 biolink:NamedThing exposure to decreased temperature A exposure event involving the interaction of an exposure receptor to decreased temperature. tmpaxzxjjyw_mondo_relaxed.owl decreased temperature exposure owl:Class HGNC:6444 biolink:NamedThing KRT6B tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000708 biolink:NamedThing ureter adventitial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001119 cell owl:Class CL:0002503 biolink:NamedThing adventitial cell A cell of the adventitial layer of ductal structures such as the uterer, defent duct, biliary duct, etc tmpaxzxjjyw_mondo_relaxed.owl BTO:0002441|FMA:84639 tmeehan 2010-12-07T04:03:56Z cell owl:Class GO:0051707 biolink:NamedThing response to other organism Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from another living organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043207 biolink:NamedThing response to external biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external biotic stimulus, an external stimulus caused by, or produced by living things. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006065 biolink:NamedThing hemal arch tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010358 biolink:NamedThing arch of centrum of vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051884 biolink:NamedThing regulation of timing of anagen Any process that modulates the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle. tmpaxzxjjyw_mondo_relaxed.owl regulation of anagen owl:Class HP:0003429 biolink:NamedThing CNS hypomyelination Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. tmpaxzxjjyw_mondo_relaxed.owl hypomyelination UMLS:C4025616|UMLS:C0544820|SNOMEDCT_US:111007000 human_phenotype owl:Class HP:0011400 biolink:NamedThing Abnormal CNS myelination An abnormality of myelination of nerves in the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl Abnormal formation of myelin sheaths UMLS:C4021152 In the CNS, myelin is the product of oligodendrocytes (and not of Schwann cells, as in the PNS). This term refers to an abnormality of the process in which myelin sheaths are formed and maintained around neurons or the result of such an abnormality. peter 2012-03-12T07:24:42Z HP:0004335|HP:0002520 human_phenotype owl:Class MONDO:0016126 biolink:NamedThing viral myositis tmpaxzxjjyw_mondo_relaxed.owl ICD10:M60.0|Orphanet:206991|ICD9:729.1|UMLS:C0150005|SCTID:240105009|MedDRA:10051512 owl:Class MONDO:0016125 biolink:NamedThing infectious, fungal or parasitic myopathy tmpaxzxjjyw_mondo_relaxed.owl ICD10:M60.0|Orphanet:206988 owl:Class NCBITaxon:121739 biolink:NamedThing Lacazia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1593277 biolink:NamedThing Onygenales incertae sedis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:34383 ncbi_taxonomy owl:Class MONDO:0024303 biolink:NamedThing external hirudiniasis The attachment of leeches to the skin. After the leeches drop off, bleeding may continue as a result of the action of hirudin. Bites may become infected or ulcerate. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0392037|SCTID:1086871000119109|ICD10:B88.3 owl:Class MONDO:0002875 biolink:NamedThing parasitic ectoparasitic infectious disease Infestations by parasites which live on, or burrow into, the surface of their host's epidermis. Most ectoparasites are arthropods. tmpaxzxjjyw_mondo_relaxed.owl ectoparasitism|Infestations, ectoparasitic|infestation, ectoparasitic|ectoparasitic infestation DOID:4110|MESH:D004478|UMLS:C0013578 owl:Class MONDO:0003725 biolink:NamedThing breast adenosis A non-neoplastic disorder characterized by epithelial and/or myoepithelial tissue growth in the breast lobules. It may be associated with apocrine changes or sclerosis. tmpaxzxjjyw_mondo_relaxed.owl microglandular adenosis|adenosis of the breast|breast adenosis|adenosis of breast|adenosis - breast|adenosis EFO:0006891|UMLS:C0085750|DOID:5998|NCIT:C3484 owl:Class MONDO:0002657 biolink:NamedThing breast disorder A disease involving the breast. tmpaxzxjjyw_mondo_relaxed.owl disease of breast|disease or disorder of breast|breast disorder|breast diseases|disorder of breast|breast disease or disorder|breast disease ICD9:610-612.99|ICD10:N60-N65|MESH:D001941|UMLS:C0006145|ICD9:611.9|ICD10:N64.9|NCIT:C26709|ICD9:611.8|SCTID:79604008|DOID:3463 owl:Class MONDO:0011527 biolink:NamedThing Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity. tmpaxzxjjyw_mondo_relaxed.owl CMT4E|CHN|neuropathy, congenital hypomyelinating, 1|Charcot-Marie-Tooth disease type 4E|Charcot-Marie-Tooth neuropathy type 4E|CMT 4E|Charcot Marie Tooth disease type 4E|Charcot-Marie-Tooth disease, type 4E|hypomyelination, Severe congenital|neuropathy, congenital hypomyelinating, autosomal dominant|CHN1|Charcot-Marie-Tooth neuropathy, type 4E|autosomal recessive congenital hypomyelinating or amyelinating neuropathy|congenital hypomyelinating neuropathy (CHN)|congenital hypomyelination neuropathy|NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE|autosomal recessive congenital hypomyelinating neuropathy|neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive|neuropathy, congenital hypomyelinating Orphanet:99951|DOID:0110195|MESH:C535301|OMIM:605253|GARD:0006170|SCTID:763135001|ICD10:G60.0|GARD:0009203 Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E. https://rarediseases.info.nih.gov/diseases/6170/congenital-hypomyelination-neuropathy owl:Class MONDO:0018995 biolink:NamedThing Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. tmpaxzxjjyw_mondo_relaxed.owl AR-CMT1|CMT4|autosomal recessive demyelinating Charcot-Marie-Tooth SCTID:715795005|Orphanet:64749|DOID:0050541|UMLS:CN043578|ICD10:G60.0|GARD:0012440 owl:Class GO:1903960 biolink:NamedThing negative regulation of anion transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of anion transmembrane transport. tmpaxzxjjyw_mondo_relaxed.owl down regulation of anion transmembrane transport|downregulation of anion transmembrane transport|inhibition of anion transmembrane transport|down-regulation of anion transmembrane transport owl:Class GO:0034766 biolink:NamedThing negative regulation of ion transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl inhibition of transmembrane ion transport|down-regulation of transmembrane ion transport|downregulation of transmembrane ion transport|negative regulation of transmembrane ion transport|down regulation of transmembrane ion transport|negative regulation of ion membrane transport owl:Class MONDO:0015196 biolink:NamedThing vein of Galen aneurysm Vein of Galen aneurysm is a rare formof arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain. Minimally invasive surgical techniques are preferred, such as endovascular embolization. tmpaxzxjjyw_mondo_relaxed.owl Galen vein aneurysm|VGAM|ectasia or varix of the vein of Galen|Galenic arteriovenous malformation|vein of Galen aneurysm malformation|vein of Galen arteriovenous malformations Orphanet:1053|GARD:0005467|MESH:C536535|UMLS:C0431420|SCTID:253194008|ICD10:Q28.2 https://rarediseases.info.nih.gov/diseases/5467/vein-of-galen-aneurysm owl:Class MONDO:0004634 biolink:NamedThing vein disorder A disease involving the vein. tmpaxzxjjyw_mondo_relaxed.owl vein disease or disorder|disorder of vein|disease of vein|disease or disorder of vein|vein disease DOID:866|SCTID:90507008|UMLS:C0235522|ICD10:I82|ICD9:453 owl:Class MONDO:0032834 biolink:NamedThing retinitis pigmentosa 86 tmpaxzxjjyw_mondo_relaxed.owl RETINITIS PIGMENTOSA 86|RP86 OMIM:618613 owl:Class MONDO:0019200 biolink:NamedThing retinitis pigmentosa Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades. tmpaxzxjjyw_mondo_relaxed.owl Rod-cone dystrophy|retinitis pigmentosa|pericentral pigmentary retinopathy OMIM:612572|OMIM:613809|OMIM:312600|OMIM:601718|OMIM:613617|OMIM:615434|OMIM:268060|OMIM:180104|OMIM:613862|OMIM:613861|OMIM:612165|MedDRA:10038914|OMIM:600138|OMIM:609913|OMIM:616562|OMIM:606068|OMIM:610359|OMIM:613575|OMIM:613767|ICD10:H35.52|OMIM:613983|OMIM:615725|OMIM:613341|OMIM:616394|ICD10:H35.5|OMIM:268000|Orphanet:791|OMIM:613464|OMIM:615922|OMIM:180210|OMIM:600132|OMIM:615233|OMIM:611131|OMIM:613194|OMIM:613769|NCIT:C85045|OMIM:612095|OMIM:600105|OMIM:300424|OMIM:613750|OMIM:180100|OMIM:613428|OMIM:600852|UMLS:C4072872|OMIMPS:268000|OMIM:615780|OMIM:609923|OMIM:604393|OMIM:614500|OMIM:612712|OMIM:300605|OMIM:268025|OMIM:616188|OMIM:612943|DOID:10584|OMIM:602594|UMLS:C0220701|OMIM:312612|OMIM:617023|OMIM:613582|OMIM:610282|OMIM:613801|OMIM:607921|OMIM:608133|OMIM:614181|MESH:C538365|OMIM:300029|OMIM:300155|UMLS:C0035334|OMIM:615565|OMIM:614180|OMIM:400004|OMIM:613827|OMIM:610599|GARD:0005694|OMIM:613731|OMIM:613581|OMIM:613660|OMIM:616544|OMIM:617123|OMIM:602772|OMIM:608380|OMIM:613794|OMIM:613810|OMIM:601414|OMIM:616469|OMIM:604232|OMIM:614494|OMIM:600059|OMIM:613756|SCTID:28835009|OMIM:180105|OMIM:613758|MESH:D012174 owl:Class MONDO:0006823 biolink:NamedThing Klinefelter syndrome A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present. tmpaxzxjjyw_mondo_relaxed.owl 47,XXY syndrome|XXY syndrome (Klinefelter syndrome)|Klinefelter's syndrome, XXY|hypogonadotropic hypogonadism|XXY trisomy|Klinefelter syndrome|Klinefelter's syndrome|XXY syndrome ICD10:Q98.4|ICD10:Q98.0|NCIT:C34752|SCTID:405769009|MedDRA:10023463|DOID:1921|ICD9:758.7|UMLS:C0022735|EFO:1001006|MESH:D007713 owl:Class MONDO:0016999 biolink:NamedThing X chromosome number anomaly tmpaxzxjjyw_mondo_relaxed.owl 2022-04-01 Orphanet:263714 Reason: grouping class. Term to consider: MONDO:0700064 MONDO:0700064 owl:Class UBERON:0012360 biolink:NamedThing bone of jaw tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013765 biolink:NamedThing digestive system element tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905941 biolink:NamedThing positive regulation of gonad development Any process that activates or increases the frequency, rate or extent of gonad development. tmpaxzxjjyw_mondo_relaxed.owl activation of gonadogenesis|upregulation of gonadogenesis|upregulation of gonad development|up-regulation of gonadogenesis|up regulation of gonad development|up-regulation of gonad development|activation of gonad development|up regulation of gonadogenesis|positive regulation of gonadogenesis owl:Class GO:0051240 biolink:NamedThing positive regulation of multicellular organismal process Any process that activates or increases the frequency, rate or extent of an organismal process, any of the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. tmpaxzxjjyw_mondo_relaxed.owl up regulation of multicellular organismal process|up-regulation of multicellular organismal process|activation of multicellular organismal process|stimulation of multicellular organismal process|upregulation of multicellular organismal process owl:Class GO:1902624 biolink:NamedThing positive regulation of neutrophil migration Any process that activates or increases the frequency, rate or extent of neutrophil migration. tmpaxzxjjyw_mondo_relaxed.owl upregulation of neutrophil migration|up-regulation of neutrophil migration|activation of neutrophil migration|up regulation of neutrophil migration owl:Class GO:1902622 biolink:NamedThing regulation of neutrophil migration Any process that modulates the frequency, rate or extent of neutrophil migration. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014096 biolink:NamedThing microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes). tmpaxzxjjyw_mondo_relaxed.owl WOODS syndrome|Woods-Crouchman-Huson syndrome OMIM:615236|Orphanet:137658|SCTID:719396000|UMLS:C0796203|GARD:0003498|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/3498/microcephaly-intellectual-disability-phalangeal-and-neurological-anomalies-syndrome owl:Class HGNC:11037 biolink:NamedThing SLC5A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005487 biolink:NamedThing vitelline vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013140 biolink:NamedThing systemic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006544 biolink:NamedThing kidney vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002201 biolink:NamedThing vasculature of trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012879 biolink:NamedThing schizophrenia 14 A schizophrenia that has material basis in a mutation on chromosome 2q32.1. tmpaxzxjjyw_mondo_relaxed.owl schizophrenia susceptibility locus, chromosome 2Q32-related|Sczd14|schizophrenia type 14|SCZD14|schizophrenia 14 DOID:0070090|UMLS:C2677614|OMIM:612361 owl:Class MONDO:0005090 biolink:NamedThing schizophrenia A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality. tmpaxzxjjyw_mondo_relaxed.owl schizophrenia with or without an affective disorder|schizophrenia|schizophrenia (disease)|SCZD|schizoaffective disorder|schizophrenia-1 schizophrenia (disease) HP:0100753|ICD9:295|Orphanet:3140|OMIM:181500|ICD9:295.8|ICD9:295.80|ICD9:295.90|ICD9:295.9|SCTID:58214004|NIFSTD:birnlex_2104|DOID:5419|ICD9:295.85|EFO:0000692|NCIT:C3362 owl:Class GO:0010976 biolink:NamedThing positive regulation of neuron projection development Any process that increases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpaxzxjjyw_mondo_relaxed.owl positive regulation of neurite growth|positive regulation of neurite biosynthesis|positive regulation of neurite formation|positive regulation of neurite development owl:Class GO:0031346 biolink:NamedThing positive regulation of cell projection organization Any process that activates or increases the frequency, rate or extent of the process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cell projection organisation|upregulation of cell projection organization|stimulation of cell projection organization|up-regulation of cell projection organization|up regulation of cell projection organization|positive regulation of cell projection organization and biogenesis|activation of cell projection organization owl:Class OBO:CHR_9606-chr16p11 biolink:NamedThing 16p11 (Human) tmpaxzxjjyw_mondo_relaxed.owl 36800000 28500000 hg38 owl:Class MONDO:0013948 biolink:NamedThing peroxisome biogenesis disorder 10A (Zellweger) tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group 12|peroxisome biogenesis disorder 10A (Zellweger)|peroxisome biogenesis disorder, complementation group G|PBD10A OMIM:614882|DOID:0080484|UMLS:C3553999|Orphanet:912 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100261 biolink:NamedThing peroxisome biogenesis disorder due to PEX3 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX3 gene. tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX3 defect|PEX3 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class NCBITaxon:33278 biolink:NamedThing Ancylostomatidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2572558 biolink:NamedThing Ancylostomatoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002146 biolink:NamedThing hypogonadism A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation. tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropism|gonadotropin deficiency UMLS:C0020619|MESH:D007006|DOID:1924|OMIM:241100|SCTID:48130008|OMIM:307300|NCIT:C9227|ICD9:253.4 owl:Class MONDO:0002259 biolink:NamedThing gonadal disorder A non-neoplastic or neoplastic disorder that affects the testis or the ovary. tmpaxzxjjyw_mondo_relaxed.owl gonad disease|disorder of gonads|gonadal disorders|disease of gonad|disorder of gonad|gonadal disorder|gonad disease or disorder|disease or disorder of gonad DOID:2277|UMLS:C0018050|MESH:D006058|NCIT:C26786 owl:Class MONDO:0009549 biolink:NamedThing severe early-childhood-onset retinal dystrophy Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy, characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years. An overlap with Leber congenital amaurosis (LCA) occurs when patients are characterized by their visual acuity and panretinal dystrophy. tmpaxzxjjyw_mondo_relaxed.owl Stargardt disease type 1|Stgd|early-onset severe retinal dystrophy|SECORD|fundus flavimaculatus|macular dystrophy with flecks, type 1|macular Degeneration, juvenile|EOSRD|Stargardt disease 1|retinal dystrophy, early-onset severe|STGD1 ICD10:H35.5|OMIM:248200|UMLS:C1855465|SCTID:716663009|Orphanet:364055|UMLS:C0271093|Orphanet:827 owl:Class MONDO:0019353 biolink:NamedThing Stargardt disease Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion. tmpaxzxjjyw_mondo_relaxed.owl Stargardt 1|Stargardt macular dystrophy|fundus flavimaculatus|juvenile onset macular degeneration|Stargardt disease 1 UMLS:C0271093|Orphanet:827|SCTID:47673003|NCIT:C85078|DOID:0050817|ICD10:H35.5|OMIM:248200|UMLS:C1855465|OMIM:603786|GARD:0000181|MedDRA:10062766|OMIM:600110 https://rarediseases.info.nih.gov/diseases/181/stargardt-disease owl:Class CHEBI:76668 biolink:NamedThing EC 2.7.* (P-containing group transferase) inhibitor A transferase inhibitor that inhibits the action of a phosphorus-containing group transferase (EC 2.7.*.*). tmpaxzxjjyw_mondo_relaxed.owl EC 2.7.* inhibitor|EC 2.7.* inhibitors|EC 2.7.* (phosphorus-containing group transferase) inhibitors|phosphorus-containing group transferase (EC 2.7.*) inhibitors|EC 2.7.* (P-containing group transferase) inhibitors|phosphorus-containing group transferase inhibitor|EC 2.7.* (phosphorus-containing group transferase) inhibitor|phosphorus-containing group transferase (EC 2.7.*) inhibitor|phosphorus-containing group transferase inhibitors owl:Class CHEBI:71300 biolink:NamedThing EC 2.* (transferase) inhibitor An enzyme inhibitor that inhibits the action of a transferase (EC 2.*) tmpaxzxjjyw_mondo_relaxed.owl transferase inhibitor|transferase inhibitors|EC 2.* inhibitors|EC 2 inhibitor|EC 2.* (transferase) inhibitors|EC 2 inhibitors|EC 2.* inhibitor owl:Class GO:0050863 biolink:NamedThing regulation of T cell activation Any process that modulates the frequency, rate or extent of T cell activation. tmpaxzxjjyw_mondo_relaxed.owl regulation of T lymphocyte activation|regulation of T-lymphocyte activation|regulation of T-cell activation owl:Class GO:0006778 biolink:NamedThing porphyrin-containing compound metabolic process The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. tmpaxzxjjyw_mondo_relaxed.owl porphyrin metabolic process|porphyrin metabolism owl:Class GO:0033013 biolink:NamedThing tetrapyrrole metabolic process The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. tmpaxzxjjyw_mondo_relaxed.owl tetrapyrrole metabolism owl:Class MONDO:0019800 biolink:NamedThing chronic hepatic porphyria Chronic hepatic porphyrias represent a sub-group of porphyrias. They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare). tmpaxzxjjyw_mondo_relaxed.owl chronic acute hepatic porphyria|acute hepatic porphyria, chronic ICD10:E80.2|Orphanet:95161 owl:Class MONDO:0002520 biolink:NamedThing hepatic porphyria A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues. tmpaxzxjjyw_mondo_relaxed.owl acute porphyria|acute hepatic porphyria|hepatic Porphyrias|ALAD deficiency|hepatic porphyria|Delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency|porphyria of liver|porphyria, hepatic|liver porphyria OMIM:612740|Orphanet:95157|MESH:D017094|GTR:AN0932921|ICD10:E80.2|UMLS:CN552491|DOID:3133|SCTID:55056006|Orphanet:100924|UMLS:C0162533 owl:Class MONDO:0003687 biolink:NamedThing endocardium cancer A malignant neoplasm involving the endocardium. tmpaxzxjjyw_mondo_relaxed.owl cancer of endocardium|malignant tumor of endocardium|malignant endocardium neoplasm|endocardium cancer|malignant endocardial neoplasm|malignant endocardial tumor|malignant tumor of the endocardium|malignant neoplasm of the endocardium|malignant neoplasm of endocardium UMLS:C1290401|SCTID:126731002|NCIT:C5346|UMLS:C0346612|NCIT:C4570|SCTID:363436001|DOID:5877 owl:Class MONDO:0004992 biolink:NamedThing cancer A tumor composed of atypical neoplastic, often pleomorphic cells that invade other tissues. Malignant neoplasms often metastasize to distant anatomic sites and may recur after excision. The most common malignant neoplasms are carcinomas (adenocarcinomas or squamous cell carcinomas), Hodgkin and non-Hodgkin lymphomas, leukemias, melanomas, and sarcomas. tmpaxzxjjyw_mondo_relaxed.owl malignancy|malignant tumor|neoplasm (disease), malignant|CA|neoplasm, malignant|malignant neoplastic disease|malignant neoplasm (disease)|organ system cancer|MT|cancer|malignant Growth|cell type cancer|malignant neoplasm|primary cancer MESH:D009369|ICDO:8000/3|UMLS:C0006826|EFO:0000311|DOID:0050686|SCTID:363346000|ICD10:C80|ONCOTREE:MT|DOID:162|ICD9:199|NCIT:C9305|ICD10:C80.1|NIFSTD:birnlex_406|GARD:0011960|DOID:0050687|ICD9:195.8|ICD9:199.1 owl:Class CL:2000057 biolink:NamedThing femural osteoblast Any osteoblast that is part of a femur. tmpaxzxjjyw_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=4610 TermGenie 2014-10-06T19:29:45Z cell owl:Class CL:0000062 biolink:NamedThing osteoblast Skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell. tmpaxzxjjyw_mondo_relaxed.owl BTO:0001593|CALOHA:TS-0720|FMA:66780 non-encoded relationships from VSAO - capable_of_producing VSAO:0000020 cell owl:Class MONDO:0008887 biolink:NamedThing bronchiectasis with or without elevated sweat chloride 1 tmpaxzxjjyw_mondo_relaxed.owl cystic fibrosis-like syndrome|BESC1|bronchiectasis with or without elevated sweat chloride 1|bronchiectasis with or without elevated sweat chloride type 1 MESH:C567618|UMLS:C2749757|OMIM:211400|DOID:0080526|Orphanet:60033 owl:Class MONDO:0018956 biolink:NamedThing idiopathic bronchiectasis Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies). tmpaxzxjjyw_mondo_relaxed.owl Orphanet:60033|UMLS:C0339985|SCTID:233629001|OMIM:613071|ICD10:J47|OMIM:211400|OMIM:613021 owl:Class UBERON:0004768 biolink:NamedThing bone of lower jaw tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011887 biolink:NamedThing cataract, congenital, with mental impairment and dentate gyrus atrophy tmpaxzxjjyw_mondo_relaxed.owl cataract, congenital, with mental impairment and dentate gyrus atrophy OMIM:607674|UMLS:C1843257|MESH:C564353 owl:Class MONDO:0020588 biolink:NamedThing lung PEComa A lung tumor that arises from perivascular epithelioid cells (PECs). tmpaxzxjjyw_mondo_relaxed.owl lung PEComa|lung pecomatous tumor NCIT:C142783 owl:Class MONDO:0021117 biolink:NamedThing lung neoplasm A benign or malignant, primary or metastatic neoplasm involving the lungs. Representative examples of benign neoplasms include adenoma, papilloma, chondroma, and endobronchial lipoma. Representative examples of malignant neoplasms include carcinoma, carcinoid tumor, sarcoma, and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl lung neoplasm (disease)|lung|neoplasm, pulmonary|tumor of the lung|lung tumor|tumor of lung|neoplasms, lung|neoplasm of lung|lung neoplasms|neoplasms, pulmonary|neoplasm, lung|neoplasm of the lung|lung neoplasm MESH:D008175|ONCOTREE:LUNG|NCIT:C3200 owl:Class MONDO:0013130 biolink:NamedThing isolated microphthalmia 4 Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene. tmpaxzxjjyw_mondo_relaxed.owl isolated microphthalmia type 4|microphthalmia, isolated type 4|GDF6 isolated microphthalmia|MCOP4|microphthalmia, isolated 4|isolated microphthalmia caused by mutation in GDF6 Orphanet:2542|MESH:C567757|OMIM:613094|ICD10:Q11.0|DOID:0060836|UMLS:C2751307 owl:Class MONDO:0000062 biolink:NamedThing isolated microphthalmia A microphthalmia that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia, isolated|nonsyndromic microphthalmia DOID:0080637|OMIMPS:251600 owl:Class MONDO:0025193 biolink:NamedThing oculopharyngodistal myopathy Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown. tmpaxzxjjyw_mondo_relaxed.owl faciooculolaryngopharyngeal myopathy with distal and respiratory involvement|OPDM|oculopharyngodistal myopathy|oculopharyngeal distal myopathy ICD10:G71.0|GARD:0012592|UMLS:C1834014|OMIMPS:164310|MESH:C563508|SCTID:763829004|Orphanet:98897 https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy owl:Class MONDO:0020158 biolink:NamedThing eyelids malposition disorder tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98567|UMLS:CN227803 owl:Class MONDO:0004398 biolink:NamedThing mediastinal schwannoma A schwannoma that arises from the posterior mediastinum. It is the most common neurogenic tumor of the mediastinum. Excision is usually curative. tmpaxzxjjyw_mondo_relaxed.owl mediastinum schwannoma|schwannoma of the mediastinum|benign neurilemmoma of the mediastinum|neurilemmoma of mediastinum|mediastinal neurilemmoma|benign neurilemmoma of mediastinum|benign schwannoma of mediastinum|neurilemmoma of the mediastinum|mediastinal schwannoma|schwannoma of mediastinum|benign mediastinal schwannoma|benign schwannoma of the mediastinum|benign mediastinal neurilemmoma UMLS:C1334679|DOID:6175|NCIT:C6643|DOID:7922|NCIT:C6625 owl:Class MONDO:0021521 biolink:NamedThing benign neoplasm of mediastinum A benign neoplasm that involves the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl benign mediastinal tumor|benign tumor of the mediastinum|benign mediastinal neoplasm|benign neoplasm of the mediastinum|benign tumor of mediastinum|mediastinum benign neoplasm ICD9:212.5|UMLS:C0153956|NCIT:C3604|ICD10:D15.2|SCTID:92214000 owl:Class MONDO:0013968 biolink:NamedThing PGM1-CDG tmpaxzxjjyw_mondo_relaxed.owl phosphoglucomutase 1 deficiency|GSD 14|phosphoglucomutase deficiency type 1|phosphoglucomutase-1 deficiency|congenital disorder of glycosylation type It|CDG-It|PGM1-CDG|CDG syndrome type It|CDG1T|GSD type 14|CDG it|glycogen storage disease 14|GSDXIV|Pgm1 deficiency|congenital disorder of glycosylation type 1t|congenital disorder of glycosylation, type It|type 14 glycogenosis|glycogen storage disease due to phosphoglucomutase deficiency DOID:0080570|Orphanet:319646|MESH:C567859|GARD:0004329|UMLS:C2752015|ICD10:E77.8|OMIM:614921 owl:Class MONDO:0018288 biolink:NamedThing congenital disorder of glycosylation with hepatic involvement tmpaxzxjjyw_mondo_relaxed.owl CDG with hepatic involvement 2022-03-01 ICD10:E77.8|Orphanet:371157 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: congenital disorder of glycosylation' MONDO_0015286 owl:Class MONDO:0011273 biolink:NamedThing H syndrome H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). tmpaxzxjjyw_mondo_relaxed.owl sinus histiocytosis and massive lymphadenopathy|Faisalabad histiocytosis|histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness|Asrar Facharzt Haque syndrome|histiocytosis with Joint contractures and sensorineural deafness|pigmented hypertrichosis with insulin-dependent diabetes mellitus|H syndrome|HJCD|SLC29A3 spectrum disorder|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|histiocytosis-lymphadenopathy plus syndrome|Rosai-Dorfman disease, familial Orphanet:168569|OMIM:602782|GARD:0000581|MESH:C538322|UMLS:C1864445|SCTID:711159002|MESH:C535391|GARD:0010239|UMLS:C2930890|ICD10:D76.3 https://rarediseases.info.nih.gov/diseases/581/asrar-facharzt-haque-syndrome owl:Class MONDO:0003381 biolink:NamedThing pituitary gland disorder A disease involving the pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl pituitary gland disease or disorder|disease of pituitary gland|pituitary disease|disease or disorder of pituitary gland|disorder of pituitary gland|pituitary gland disorder|pituitary gland disease ICD9:253.9|NCIT:C26854|MESH:D010900|ICD9:253.8|DOID:53|ICD9:253.1|SCTID:399244003 owl:Class MONDO:0009218 biolink:NamedThing Farber lipogranulomatosis A rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement. tmpaxzxjjyw_mondo_relaxed.owl N-LAURYLSPHINGOSINE deacylase deficiency|FRBRL|ceramidase deficiency|Farber's disease|Farber lipogranulomatosis|Farber disease|acid ceramidase deficiency|AC deficiency|N-Laurylsphingosine deacylase deficiency NCIT:C84710|UMLS:C0268255|ICD9:272.8|MESH:D055577|UMLS:CN204335|ICD10:E75.2|OMIM:228000|GARD:0006426|Orphanet:333|DOID:0050464|SCTID:79935000 owl:Class MONDO:0019058 biolink:NamedThing neurometabolic disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205539|Orphanet:68385 owl:Class MONDO:0041526 biolink:NamedThing pregnancy disorder with abortive outcome tmpaxzxjjyw_mondo_relaxed.owl pregnancy with abortive outcome SCTID:363681007|ICD10:O00.O08 Editor note: consider obsoleting owl:Class MONDO:0010028 biolink:NamedThing sialuria Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood. tmpaxzxjjyw_mondo_relaxed.owl sialuria|sialuria, French type GARD:0004865|Orphanet:3166|NCIT:C85067|DOID:3659|ICD9:796.4|OMIM:604369|OMIM:269921|ICD10:E77.8|SCTID:238051008|MedDRA:10067529 owl:Class MONDO:0017736 biolink:NamedThing disorder of sialic acid metabolism tmpaxzxjjyw_mondo_relaxed.owl Orphanet:309319|UMLS:C0342851|ICD10:E77.8|SCTID:238050009|ICD9:277.89 owl:Class GO:0001934 biolink:NamedThing positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of protein amino acid phosphorylation|up regulation of protein amino acid phosphorylation|positive regulation of protein amino acid phosphorylation|stimulation of protein amino acid phosphorylation|upregulation of protein amino acid phosphorylation|activation of protein amino acid phosphorylation owl:Class GO:0031401 biolink:NamedThing positive regulation of protein modification process Any process that activates or increases the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. tmpaxzxjjyw_mondo_relaxed.owl up regulation of protein modification|up-regulation of protein modification|upregulation of protein modification|activation of protein modification|stimulation of protein modification owl:Class GO:0007162 biolink:NamedThing negative regulation of cell adhesion Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion. tmpaxzxjjyw_mondo_relaxed.owl downregulation of cell adhesion|down-regulation of cell adhesion|down regulation of cell adhesion|cell adhesion receptor inhibitor activity|inhibition of cell adhesion owl:Class MONDO:0010064 biolink:NamedThing spastic ataxia-corneal dystrophy syndrome Mousa-AlDin-AlNassar syndrome is characterised by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. tmpaxzxjjyw_mondo_relaxed.owl spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs|spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia|spastic ataxia-ocular anomalies syndrome|Mousa-Al Din-Al Nassar syndrome|Mousa Al din Al Nassar syndrome|Bedouin spastic ataxia syndrome MESH:C536989|ICD10:G11.8|OMIM:271320|UMLS:C1849085|GARD:0003795|SCTID:715465001|Orphanet:2572 owl:Class MONDO:0017847 biolink:NamedThing autosomal recessive spastic ataxia Autosomal recessive form of spastic ataxia. tmpaxzxjjyw_mondo_relaxed.owl AR-SPAX|spastic ataxia, autosomal recessive Orphanet:316240|ICD10:G11.8|UMLS:CN229112 owl:Class CL:1000417 biolink:NamedThing myoepithelial cell of sweat gland A myoepithelial cell that is part of the sweat gland. tmpaxzxjjyw_mondo_relaxed.owl FMA:67801 cell owl:Class CL:1000448 biolink:NamedThing epithelial cell of sweat gland An epithelial cell that is part of the sweat gland. tmpaxzxjjyw_mondo_relaxed.owl FMA:70952 cell owl:Class MAXO:0000002 biolink:NamedThing therapeutic procedure All manners of treatment, be they pharmaceuticals, invasive procedures, etc. to relieve illness and injury in attempts to bring the body back to its normal state. tmpaxzxjjyw_mondo_relaxed.owl medical procedure|treatment|clinical procedure owl:Class MAXO:0000001 biolink:NamedThing medical action A clinically prescribed procedure, therapy, intervention, or recommendation. tmpaxzxjjyw_mondo_relaxed.owl health care process owl:Class GO:2000610 biolink:NamedThing negative regulation of thyroid hormone generation Any process that stops, prevents or reduces the frequency, rate or extent of thyroid hormone generation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000609 biolink:NamedThing regulation of thyroid hormone generation Any process that modulates the frequency, rate or extent of thyroid hormone generation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16297 biolink:NamedThing UPB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006328 biolink:NamedThing odontogenic cyst A cyst in the jaw that arises from tissues of tooth development. tmpaxzxjjyw_mondo_relaxed.owl ICD9:526.89|EFO:1000406|MESH:D009807|SCTID:235110008|NCIT:C54220|Wikipedia:Odontogenic_cyst owl:Class MONDO:0005070 biolink:NamedThing neoplasm A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. tmpaxzxjjyw_mondo_relaxed.owl neoplasm (disease)|tumor disease|cell process disease|neoplasia|neoplastic growth|neoplasm|tumor|other neoplasm|disease of cellular proliferation|neoplastic disease neoplasm (disease) HP:0002664|ONCOTREE:OTHER|ICD9:140-239.99|ICD10:C00.D48|EFO:0000616|SCTID:55342001|NCIT:C3262|ICD9:239.8|MESH:D009369|DOID:14566|UMLS:CN236628|ICD9:239.9 owl:Class MONDO:0016064 biolink:NamedThing cleft palate Cleft palate is a fissure type embryopathy that affects the soft and hard palate to varying degrees. tmpaxzxjjyw_mondo_relaxed.owl palatoschisis|uranostaphyloschisis|cleft velum ICD9:749.0|NCIT:C87069|ICD10:Q35.5|OMIM:119540|MESH:D002972|UMLS:C0008925|ICD9:749.00|ICD10:Q35.7|SCTID:63567004|ICD10:Q35.1|DOID:674|Orphanet:2014|MedDRA:10009269|ICD10:Q35|ICD10:Q35.9|Orphanet:99772|ICD10:Q35.3 owl:Class MONDO:0023369 biolink:NamedThing disorder of facial skeleton A disease that involves the facial skeleton. tmpaxzxjjyw_mondo_relaxed.owl maxillo-facial disease|facial skeleton disease|disease or disorder of facial skeleton|disorder of facial skeleton|maxillofacial anomaly|disease of facial skeleton|facial skeleton disease or disorder owl:Class MONDO:0012672 biolink:NamedThing cholelithiasis The presence of calculi in the gallbladder. tmpaxzxjjyw_mondo_relaxed.owl GBD4|gallstones|gallbladder disease type 4|gallbladder disease 4 DOID:10211|EFO:0004799|UMLS:C0008350|MESH:D002769|ICD9:574.5|OMIM:611465|ICD9:574|SCTID:266474003|NCIT:C122822|UMLS:C0947622|ICD9:574.20 owl:Class MONDO:0005281 biolink:NamedThing gallbladder disorder A disease involving the gall bladder. tmpaxzxjjyw_mondo_relaxed.owl Gall bladder disorder|disease or disorder of gall bladder|disease of gall bladder|gall bladder disease|gallbladder disorder|gall bladder disease or disorder|disorder of gall bladder OMIM:611465|ICD10:K82|ICD9:575.8|OMIMPS:600803|MESH:D005705|EFO:0003832|ICD9:575.9|SCTID:39621005|OMIM:609919|OMIM:609918|DOID:0060262|ICD10:K82.9|NCIT:C34631|UMLS:C0016977 owl:Class MONDO:0007916 biolink:NamedThing primary intestinal lymphangiectasia Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children. tmpaxzxjjyw_mondo_relaxed.owl familial Waldmann's disease (type)|Waldmann's disease|primary intestinal lymphangiectasis|lymphangiectasia, intestinal|Waldmann disease Orphanet:90362|UMLS:C0267372|GARD:0007873|ICD10:I89.0|SCTID:6124009|OMIM:152800|UMLS:CN206410|ICD9:457.1 https://rarediseases.info.nih.gov/diseases/7873/primary-intestinal-lymphangiectasia owl:Class MONDO:0018178 biolink:NamedThing intestinal lymphangiectasia Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by diarrhea; hypoproteinemia; peripheral and/or abdominal edema; and protein-losing enteropathies. tmpaxzxjjyw_mondo_relaxed.owl intestinal lymphangiectasia|intestinal lymphangiectasia (disease) intestinal lymphangiectasia (disease) ICD9:457.1|MedDRA:10025213|Orphanet:36204|ICD10:I89.0|SCTID:197260007|HP:0002593|GARD:0012331 owl:Class MONDO:0008391 biolink:NamedThing Robinow-Sorauf syndrome tmpaxzxjjyw_mondo_relaxed.owl acrocephalosyndactyly, Robinow-Sorauf type|craniosynostosis-bifid hallux syndrome|Robinow-Sorauf syndrome Orphanet:3106|UMLS:C1867146|UMLS:CN203672|OMIM:180750|MESH:C537183 owl:Class MONDO:0010533 biolink:NamedThing Arts syndrome Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. tmpaxzxjjyw_mondo_relaxed.owl MRXS18|lethal ataxia-deafness-optic atrophy|X-linked fatal ataxia with deafness and loss of vision|syndromic X-linked intellectual disability Arts type|fatal X-linked ataxia with deafness and loss of vision|intellectual disability, X-linked, syndromic 18|Arts syndrome|MRXSARTS|syndromic X-linked mental retardation Arts type|lethal ataxia with deafness and optic atrophy|ataxia, fatal X-linked, with deafness and loss of vision|mental retardation, X-linked, syndromic 18|Arts|mental retardation, X-linked, syndromic, Arts type|syndromic X-linked intellectual disability 18|intellectual disability, X-linked, syndromic, Arts type|syndromic X-linked mental retardation 18 MESH:C535388|UMLS:C0796028|ICD9:277.2|ICD10:E79.8|OMIM:301835|GARD:0008756|SCTID:702441001|DOID:0050647|Orphanet:1187 https://rarediseases.info.nih.gov/diseases/8756/arts-syndrome owl:Class ENVO:01000981 biolink:NamedThing mass liquid flow A process whereby a volume of liquid moves due to a disequilibrium of physical forces. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001747 biolink:NamedThing mass fluid flow tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009320 biolink:NamedThing Hall-Riggs syndrome Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl Hall Riggs intellectual disability syndrome|HALL-Riggs intellectual disability syndrome|Hall Riggs mental retardation syndrome|HALL-Riggs mental retardation syndrome ICD10:Q87.8|UMLS:C1856198|GARD:0002586|OMIM:234250|MESH:C535623|Orphanet:2107|SCTID:721008000 owl:Class MONDO:0012579 biolink:NamedThing autoimmune pulmonary alveolar proteinosis Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of a lipoproteinaceous substance in the distal air spaces which positively stains with periodic acid-Schiff (PAS). tmpaxzxjjyw_mondo_relaxed.owl pulmonary alveolar proteinosis autoimmune|iPAP|pulmonary alveolar lipoproteinosis acquired|PAP acquired|APAP|PAP|pulmonary alveolar proteinosis, acquired|autoimmune PAP|idiopathic PAP|acquired pulmonary alveolar proteinosis|Pap, acquired|pulmonary alveolar proteinosis, autoimmune|pulmonary alveolar lipoproteinosis, acquired|idiopathic pulmonary alveolar proteinosis|pulmonary alveolar proteinosis acquired ICD10:J84.0|OMIM:610910|MESH:C567049|SCTID:707443007|GARD:0007499|UMLS:C1970472|Orphanet:747 https://rarediseases.info.nih.gov/diseases/7499/autoimmune-pulmonary-alveolar-proteinosis owl:Class MONDO:0001437 biolink:NamedThing pulmonary alveolar proteinosis A rare lung disorder characterized by the filling of the pulmonary alveoli with proteinaceous material which stains positive with periodic acid-Schiff stain. It may be idiopathic or secondary due to hematologic malignancies or the inhalation of mineral dusts. Signs and symptoms include dyspnea, cough and low grade fever. tmpaxzxjjyw_mondo_relaxed.owl PAP|pulmonary alveolar proteinosis UMLS:C0034050|NCIT:C85037|OMIM:614370|DOID:12120|ICD9:516.0|ICD10:J84.01|SCTID:10501004|OMIM:610921|OMIM:610913|OMIM:300770|Reactome:R-HSA-5683826|MESH:D011649|Orphanet:264675|OMIM:265120 owl:Class GO:1903302 biolink:NamedThing regulation of pyruvate kinase activity Any process that modulates the frequency, rate or extent of pyruvate kinase activity. tmpaxzxjjyw_mondo_relaxed.owl regulation of phosphoenol transphosphorylase activity|regulation of ATP:pyruvate 2-O-phosphotransferase activity|regulation of phosphoenolpyruvate kinase activity owl:Class UBERON:0001803 biolink:NamedThing epithelium of lens tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000484 biolink:NamedThing simple cuboidal epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050747 biolink:NamedThing positive regulation of lipoprotein metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of lipoprotein metabolic process|stimulation of lipoprotein metabolic process|upregulation of lipoprotein metabolic process|positive regulation of lipoprotein metabolism|activation of lipoprotein metabolic process|up regulation of lipoprotein metabolic process owl:Class GO:0070859 biolink:NamedThing positive regulation of bile acid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. tmpaxzxjjyw_mondo_relaxed.owl stimulation of bile acid biosynthetic process|positive regulation of bile acid anabolism|activation of bile acid biosynthetic process|positive regulation of bile acid formation|upregulation of bile acid biosynthetic process|up-regulation of bile acid biosynthetic process|positive regulation of bile acid synthesis|up regulation of bile acid biosynthetic process|positive regulation of bile acid biosynthesis owl:Class GO:0031328 biolink:NamedThing positive regulation of cellular biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cellular anabolism|positive regulation of cellular formation|upregulation of cellular biosynthetic process|up regulation of cellular biosynthetic process|activation of cellular biosynthetic process|stimulation of cellular biosynthetic process|positive regulation of cellular synthesis|up-regulation of cellular biosynthetic process|positive regulation of cellular biosynthesis owl:Class MONDO:0004257 biolink:NamedThing childhood central nervous system mixed germ cell tumor A mixed germ cell tumor that arises from the central nervous system and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl mixed germ cell tumor of central nervous system of childhood|Central nervous system Mixed germ cell tumor|pediatric mixed germ cell tumor of central nervous system|childhood mixed germ cell tumor of central nervous system UMLS:C1332956|DOID:7516|NCIT:C27403 owl:Class MONDO:0016742 biolink:NamedThing mixed germ cell tumor of central nervous system A malignant germ cell tumor of the central nervous system characterized by the presence of at least two types of germ cell neoplasia. tmpaxzxjjyw_mondo_relaxed.owl central nervous system mixed germ cell tumor|mixed germ cell tumor of CNS|mixed germ cell neoplasm of the central nervous system|mixed germ cell tumor of the CNS|mixed germ cell tumor of the central nervous system|CNS mixed germ cell tumor UMLS:CN201989|UMLS:C1334785|Orphanet:252021|NCIT:C7016 owl:Class MONDO:0015620 biolink:NamedThing syndromic urogenital tract malformation A urogenital tract malformation that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic urogenital tract malformation|syndrome associated with urogenital tract malformation Orphanet:165707|UMLS:CN226715 owl:Class GO:0098542 biolink:NamedThing defense response to other organism Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. tmpaxzxjjyw_mondo_relaxed.owl defence response to pathogen, incompatible interaction|defense response, incompatible interaction|defence response incompatible interaction|resistance response to pathogen owl:Class GO:0006955 biolink:NamedThing immune response Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009359 biolink:NamedThing multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome tmpaxzxjjyw_mondo_relaxed.owl MARCH|hydranencephaly with renal aplasia-dysplasia|multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly|MARCH syndrome|multinucleated neurons, anhydramnios, renal dysplasia, cerebellar Hypoplasia, and hydranencephaly DOID:0080327|OMIM:236500|Orphanet:500135|MESH:C565507|UMLS:C1856053 owl:Class MONDO:0017841 biolink:NamedThing autoimmune disease with skin involvement A hypersensitivity reaction type II disease that involves the skin of body. tmpaxzxjjyw_mondo_relaxed.owl skin of body hypersensitivity reaction type II disease|integument hypersensitivity reaction type II disease|autoimmune disease of skin and connective tissue 2022-03-01 UMLS:CN203818|DOID:0060039|Orphanet:315350 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: autoimmune disease' MONDO_0007179 owl:Class MONDO:0007179 biolink:NamedThing autoimmune disease A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis). tmpaxzxjjyw_mondo_relaxed.owl autoimmune disorder|hypersensitivity reaction type II disease|autoimmune disease|autoimmune disease or disorder|disease, autoimmune|autoimmune hypersensitivity disease ICD9:720|ICD9:279.49|OMIM:613551|DOID:417|ICD9:279.4|OMIM:109100|SCTID:85828009|MESH:D001327|EFO:0005140|NCIT:C2889|OMIM:615952|OBI:1110054|UMLS:C0004364 Editor note: check OMIM owl:Class MONDO:0021964 biolink:NamedThing bagatelle Cassidy syndrome tmpaxzxjjyw_mondo_relaxed.owl macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay|macrocephaly short limbs deafness UMLS:C2931616|GARD:0000398|MESH:C537796 https://rarediseases.info.nih.gov/diseases/398/bagatelle-cassidy-syndrome owl:Class MONDO:0016608 biolink:NamedThing megalencephaly A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome). tmpaxzxjjyw_mondo_relaxed.owl megalencephaly|macroencephaly|megalencephaly (disease) megalencephaly (disease) Orphanet:2477|OMIM:155350|MedDRA:10050183|ICD10:Q04.5|ICD9:742.4|SCTID:9740002|OMIM:248000|MESH:D058627|HP:0001355 owl:Class GO:0051606 biolink:NamedThing detection of stimulus The series of events in which a stimulus is received by a cell or organism and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl stimulus sensing|stimulus detection|perception of stimulus owl:Class GO:0050896 biolink:NamedThing response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. tmpaxzxjjyw_mondo_relaxed.owl physiological response to stimulus owl:Class MONDO:0006506 biolink:NamedThing congenital nonspherocytic hemolytic anemia Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase. tmpaxzxjjyw_mondo_relaxed.owl hereditary nonspherocytic hemolytic anemia|HNSHA Orphanet:712|UMLS:C0002882|OMIM:206400|OMIM:613470|EFO:1000641|DOID:2861|SCTID:301317008|ICD9:282.3|OMIM:300908|OMIM:206300|MESH:D000746 owl:Class MONDO:0019050 biolink:NamedThing inherited hemoglobinopathy An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule. tmpaxzxjjyw_mondo_relaxed.owl Hemoglobinopathies / iron metabolism|hemoglobinopathies|hemoglobinopathy|hereditary hemoglobinopathy ICD10:D58.0|UMLS:C1960031|ICD10:D57.0|ICD10:D57.8|ICD10:D58.9|SCTID:80141007|MESH:D006453|ICD10:D56.8|ICD10:D58.2|UMLS:C0019045|ICD10:D58.1|MedDRA:10060892|GARD:0012455|ICD10:D57.2|DOID:2860|ICD10:D56.3|ICD10:D56.9|ICD9:282.7|ICD10:D56.1|ICD10:D58.8|ICD10:D56.4|Orphanet:68364|ICD10:D56.2|ICD10:D57.1|ICD10:D56.0|SCTID:427306008|NCIT:C3092|ICD10:D57.3 owl:Class MONDO:0010181 biolink:NamedThing oculogastrointestinal muscular dystrophy Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, oculogastrointestinal|visceral myopathy-familial external ophthalmoplegia syndrome|familial visceral myopathy with external ophthalmoplegia|visceral myopathy - familial external ophthalmoplegia|intestinal pseudoobstruction with external ophthalmoplegia|visceral myopathy, familial, with external ophthalmoplegia GARD:0005496|Orphanet:1876|ICD10:G71.0|OMIM:277320|SCTID:722060007 owl:Class MONDO:0021189 biolink:NamedThing intestinal motility disease A disease that has its basis in the disruption of intestinal motility. tmpaxzxjjyw_mondo_relaxed.owl disorder of intestinal motility owl:Class MONDO:0012923 biolink:NamedThing congenital generalized lipodystrophy type 3 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene. tmpaxzxjjyw_mondo_relaxed.owl lipodystrophy, congenital generalized, type 3|CAV1 congenital generalized lipodystrophy (disease)|Berardinelli-Seip congenital lipodystrophy, type 3|BSCL3|lipodystrophy, Berardinelli-Seip congenital, type 3|Berardinelli-Seip congenital lipodystrophy type 3|congenital generalized lipodystrophy (disease) caused by mutation in CAV1|type 3 Berardinelli-Seip congenital lipodystrophy|CGL3 MESH:C567282|UMLS:C2675861|ICD10:E88.1|GARD:0013389|Orphanet:528|DOID:0111137|OMIM:612526 https://rarediseases.info.nih.gov/diseases/13389/congenital-generalized-lipodystrophy-type-3 owl:Class MONDO:0006536 biolink:NamedThing congenital generalized lipodystrophy An extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. tmpaxzxjjyw_mondo_relaxed.owl lipodystrophy, congenital generalized|familial generalized lipodystrophy|hereditary generalized lipodystrophy|congenital generalized lipodystrophy|congenital generalized lipodystrophy (disease) congenital generalized lipodystrophy (disease) HP:0009059|EFO:1000681|DOID:0050585|OMIMPS:608594|SCTID:284449005 owl:Class HP:0006817 biolink:NamedThing Aplasia/Hypoplasia of the cerebellar vermis Absence or underdevelopment of the vermis of cerebellum. tmpaxzxjjyw_mondo_relaxed.owl Hypo/aplastic vermis|Cerebellar vermis aplasia/hypoplasia|Cerebellar vermis aplasia or hypoplasia UMLS:C1855676|UMLS:C3280770 HP:0007080|HP:0005690 human_phenotype owl:Class HP:0002334 biolink:NamedThing Abnormal cerebellar vermis morphology An anomaly of the vermis of cerebellum. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the cerebellar vermis UMLS:C4025712 The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres. human_phenotype owl:Class GO:2000384 biolink:NamedThing negative regulation of ectoderm development Any process that stops, prevents or reduces the frequency, rate or extent of ectoderm development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008152 biolink:NamedThing metabolic process The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. tmpaxzxjjyw_mondo_relaxed.owl multicellular organism metabolic process|metabolism|single-organism metabolic process|metabolism resulting in cell growth|metabolic process resulting in cell growth owl:Class GO:0008150 biolink:NamedThing biological_process A biological process represents a specific objective that the organism is genetically programmed to achieve. Biological processes are often described by their outcome or ending state, e.g., the biological process of cell division results in the creation of two daughter cells (a divided cell) from a single parent cell. A biological process is accomplished by a particular set of molecular functions carried out by specific gene products (or macromolecular complexes), often in a highly regulated manner and in a particular temporal sequence. tmpaxzxjjyw_mondo_relaxed.owl single organism process|biological process|physiological process|single-organism process owl:Class MONDO:0003085 biolink:NamedThing keratitis A corneal disease that is characterized by inflammation of the cornea. tmpaxzxjjyw_mondo_relaxed.owl cornea inflammation|inflammation of cornea ICD10:H16.9|ICD9:370.9|DOID:4677|SCTID:5888003|ICD9:370|UMLS:C0022568|NCIT:C26805|ICD9:370.8|ICD10:H16|MESH:D007634 owl:Class GO:0019815 biolink:NamedThing B cell receptor complex An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. tmpaxzxjjyw_mondo_relaxed.owl antibody|B lymphocyte receptor complex|BCR complex|immunoglobulin complex, membrane bound|B-cell receptor complex|B cell receptor accessory molecule complex|B-lymphocyte receptor complex owl:Class GO:0098802 biolink:NamedThing plasma membrane signaling receptor complex Any protein complex that is part of the plasma membrane and which functions as a signaling receptor. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0700024 biolink:NamedThing chromosome 19 disorder Chromosomal disorder in which chromosome 19 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0019040 biolink:NamedThing chromosomal disorder Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) tmpaxzxjjyw_mondo_relaxed.owl chromosome disorder|chromosomal disease|chromosome abnormality disorders|chromosome disorders, autosomal|disorders, chromosome|chromosomal disorders|disorders, chromosomal|disorder, chromosomal|autosomal chromosome disorder|disorder, chromosome abnormality|chromosome abnormality disorder|chromosomal disorder|chromosome disorder, autosomal|autosomal chromosome disorders|disorder, chromosome DOID:0080014|Orphanet:68335|SCTID:409709004|NCIT:C34470|ICD9:758.89|MESH:D025063 owl:Class CL:1001586 biolink:NamedThing mammary gland glandular cell Glandular cell of mammary epithelium. Example: glandular cells of large and intermediate ducts, glandular cells in terminal ducts. tmpaxzxjjyw_mondo_relaxed.owl breast glandular cells|breast glandular cell|mammary glandular cell CALOHA:TS-1272 owl:Class CL:0002327 biolink:NamedThing mammary gland epithelial cell An epithelial cell of the mammary gland. tmpaxzxjjyw_mondo_relaxed.owl mammary epithelial cell|breast epithelial cell BTO:0004300 tmeehan 2010-09-20T01:49:37Z cell owl:Class MONDO:0020684 biolink:NamedThing Ehlers-Danlos syndrome, periodontal type 1 tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, periodontosis type|Ehlers-Danlos syndrome, type 8|EDS 8|Ehlers-Danlos syndrome, periodontal type, 1|EDSPD1|Ehlers-Danlos syndrome, periodontitis type OMIM:130080 owl:Class MONDO:0007527 biolink:NamedThing Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. tmpaxzxjjyw_mondo_relaxed.owl periodontal EDS|Ehlers-Danlos syndrome, periodontitis type|EDS VIII (formerly)|EDS VIII|Ehlers-Danlos syndrome, periodontosis type|Ehlers-Danlos syndrome, type VIII|EDS8 (formerly)|Ehlers-Danlos syndrome type 8|periodontal Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type 8|pEDS|Ehlers-Danlos syndrome type 8 (formerly)|EDS 8|EDS8|Ehlers-Danlos syndrome, type VIII (formerly) OMIM:617174|Orphanet:75392|GARD:0012474|ICD10:Q79.6|MESH:C562626|SCTID:50869007 owl:Class GO:0014062 biolink:NamedThing regulation of serotonin secretion Any process that modulates the frequency, rate or extent of the regulated release of serotonin. tmpaxzxjjyw_mondo_relaxed.owl regulation of serotonin release owl:Class GO:1903530 biolink:NamedThing regulation of secretion by cell Any process that modulates the frequency, rate or extent of secretion by cell. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular secretion owl:Class MONDO:0017129 biolink:NamedThing inherited cardiac tumor An instance of heart cancer that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic heart tumor|hereditary heart neoplasm|genetic cardiac tumor Orphanet:271841|UMLS:CN202528 owl:Class MONDO:0021209 biolink:NamedThing heart neoplasm A neoplasm (disease) that involves the heart. tmpaxzxjjyw_mondo_relaxed.owl primary cardiac tumors, childhood|tumor of the heart|Cardiac tumor|neoplasm of heart|heart tumor|neoplasm of the heart|Cardiac neoplasm|myocardial tumors (rhabdomyomas and fibromas)|tumor of heart|Intracavitary tumors|heart neoplasm (disease)|Cardiac neoplasms NCIT:C3081|GARD:0002619|EFO:1001339 owl:Class MONDO:0015764 biolink:NamedThing mosaic trisomy 20 Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported. tmpaxzxjjyw_mondo_relaxed.owl Mosaic trisomy type 20|Mosaic trisomy chromosome 20 Orphanet:1724|ICD10:Q92.1 owl:Class MONDO:0022757 biolink:NamedThing chromosome 20 trisomy Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or allof of his/her cells. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester ofpregnancy. The presence of an extra copyof only part of chromosome 20 is called partial trisomy 20; and an extra copy of chromosome 20 in only some of a person's cells is called mosaic trisomy 20. Mosaic trisomy 20 is the most common type of chromosome 20 trisomy and is one of the more common chromosomal abnormalities found during prenatal diagnostic testing. Studies have shown that the child is normal in the vast majority of prenatally diagnosed individuals. However, features that have been reported include spinal abnormalities (including spinal stenosis, vertebral fusion, and kyphosis), hypotonia (decreased muscle tone), life long constipation, sloped shoulders, and significant learning disabilities despite normal intelligence. Trisomy 20 usually results from an error that occurs when an egg or sperm cell develops (before fertilization); mosaic trisomy 20 usually results from errors in cell division soon after fertilization. tmpaxzxjjyw_mondo_relaxed.owl trisomy chromosome 20|mosaic trisomy 20|trisomy 20 mosaicism|trisomy 20 MESH:C535372|NCIT:C36397|UMLS:C0265479|GARD:0005332 https://rarediseases.info.nih.gov/diseases/5332/chromosome-20-trisomy owl:Class MONDO:0021950 biolink:NamedThing autoimmune oophoritis Autoimmune oophoritis is a rare cause of primary ovarian insufficiency (POI). It happens when the body's immune system mistakenly attacks the ovaries causing inflammation, atrophy and fibrosis. These changes stop the ovaries from working normally. The main symptoms of autoimmune oophorotis are irregular or absent menstrual period (amenorrhea) and symptoms related to ovarian cysts such as abdominal cramping, bloating, nausea and vomiting. Autoimmune oophoritis may occur as part of autoimmune polyglandular syndrome type I and type II but has also been associated with lupus, pernicious anemia, myasthenia gravis and other autoimmune conditions. The underlying cause of autoimmune oophoritis is unknown. Diagnosis involves a special blood test which looks for anti-steroid or anti-ovarian antibodies, a pelvic ultrasound to look for enlarged cystic ovaries and tests to rule out other possible causes of POI. Management of autoimmune oophoritis involves emotional support, possible estrogen replacement therapy and management of other autoimmune conditions. tmpaxzxjjyw_mondo_relaxed.owl GARD:0009461|MESH:C538274|UMLS:C0878654 https://rarediseases.info.nih.gov/diseases/9461/autoimmune-oophoritis owl:Class MONDO:0006877 biolink:NamedThing oophoritis Inflammation of the ovary, generally caused by an ascending infection of organisms from the endocervix. tmpaxzxjjyw_mondo_relaxed.owl ovary inflammation|inflammation of ovary ICD10:N70.92|SCTID:76047005|MESH:D009869|UMLS:C0029051|MedDRA:10030345|DOID:10974|EFO:1001071 owl:Class MONDO:0018637 biolink:NamedThing familial chylomicronemia syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:444490|UMLS:CN231410|OMIM:615947|DOID:0111417|ICD10:E78.3|OMIM:238600|OMIM:118830|OMIM:207750 owl:Class MONDO:0015902 biolink:NamedThing major hypertriglyceridemia Major hypertriglyceridemia comprises a group of endocrine diseases characterized by permanently high levels of triglycerides (TG) in the blood (higher than 4g/L after 12 hours of fasting) and an increased risk of acute pancreatitis, making screening essential. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:181425|ICD10:E78.1 owl:Class MONDO:0001481 biolink:NamedThing femoral vein thrombophlebitis A thrombophlebitis that involves the femoral vein. tmpaxzxjjyw_mondo_relaxed.owl phlebitis and thrombophlebitis of femoral vein|thrombophlebitis of femoral vein|femoral vein thrombophlebitis|thrombophlebitis of deep femoral vein|thrombophlebitis of the femoral vein|phlebitis and thrombophlebitis of femoral vein (deep) (superficial) UMLS:C0265066|SCTID:1748006|ICD10:I80.1|DOID:12282|ICD9:451.11 owl:Class MONDO:0044967 biolink:NamedThing limb disorder A disease or disorder that involves the limb. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of limb|disorder of extremity|limb disease or disorder|disease of limb|disorder of limb|limb disease 2022-04-01 UMLS:C1290877|SCTID:128605003|ICD9:V49.1 Reason: grouping class. Term to consider: none owl:Class ENVO:03000009 biolink:NamedThing material accumulation process A process during which the mass of one or more materials, present within a given site, increases. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:02500000 biolink:NamedThing environmental system process A process in which includes the components of an environmental system as participants. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046655 biolink:NamedThing folic acid metabolic process The chemical reactions and pathways involving folic acid, pteroylglutamic acid. Folic acid is widely distributed as a member of the vitamin B complex and is essential for the synthesis of purine and pyrimidines. tmpaxzxjjyw_mondo_relaxed.owl vitamin M metabolic process|vitamin B9 metabolic process|vitamin B9 metabolism|vitamin M metabolism|folate metabolism|folate metabolic process|folic acid metabolism owl:Class GO:0006760 biolink:NamedThing folic acid-containing compound metabolic process The chemical reactions and pathways involving a folic acid-containing compound, i.e. any of a group of heterocyclic compounds based on the pteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units. tmpaxzxjjyw_mondo_relaxed.owl folic acid and derivative metabolism|folate-containing compound metabolism|vitamin B9 and derivative metabolic process|vitamin M and derivative metabolic process|folic acid-containing compound metabolism|vitamin M and derivative metabolism|folate-containing compound metabolic process|folate and derivative metabolism|folic acid and derivative metabolic process|folate and derivative metabolic process|vitamin B9 and derivative metabolism owl:Class MONDO:0005815 biolink:NamedThing pancreatic neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade). tmpaxzxjjyw_mondo_relaxed.owl endocrine pancreas neoplasm (disease)|malignant tumor of endocrine pancreas|islet cell tumour|Islet cell tumors|Islet of Langerhans tumor|neuroendocrine neoplasm of pancreas|PNEN|endocrine pancreas tumor|endocrine pancreas neoplasm|islet cell tumor|tumor of endocrine pancreas|malignant pancreatic endocrine tumor|pancreatic endocrine neoplasm|pancreatic neuroendocrine neoplasm|pancreatic NEN|endocrine pancreas cancer|islet cell neoplasm|neoplasm of endocrine pancreas Orphanet:506052|ICD10:C25.4|GARD:0007311|ICD10:D13.7|EFO:0007331|DOID:1799|SCTID:254611009|NCIT:C27031|ICDO:8150/1 Editor note: classified as carcinoma in EFO owl:Class MONDO:0021040 biolink:NamedThing pancreatic neoplasm A benign or malignant neoplasm involving the pancreas. tmpaxzxjjyw_mondo_relaxed.owl tumor of pancreas|pancreas tumor|pancreatic neoplasm|pancreas neoplasm|pancreas neoplasm (disease)|pancreas|pancreatic tumor|neoplasm of pancreas|tumor of the pancreas|neoplasm of the pancreas SCTID:126859007|NCIT:C3305|EFO:0003860|MESH:D010190|ONCOTREE:PANCREAS owl:Class MONDO:0014995 biolink:NamedThing neurodevelopmental disorder with hypotonia, seizures, and absent language tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with hypotonia, seizures, and absent language; NDHSAL|neurodevelopmental disorder with hypotonia, seizures, and absent language|NDHSAL OMIM:617268|UMLS:C4310643 owl:Class MONDO:0700092 biolink:NamedThing neurodevelopmental disorder A behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C1535926|MedDRA:C1535926|UMLS:C1535926|SCTID:700364009|MESH:D065886 http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/3410 owl:Class MONDO:0015991 biolink:NamedThing citrullinemia Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification characterized by elevated concentrations of serum citrulline and ammonia. The disease presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma; hepatic dysfunction in all age groups; episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, can be asymptomatic in some cases (detected in newborn screening programs). Citrullinemia is divided into two main groups that are encoded by different genes: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of adult-onset citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency). tmpaxzxjjyw_mondo_relaxed.owl ass deficiency|deficiency of citrulline-aspartate ligase SCTID:124711003|ICD10:E72.2|NCIT:C84639|OMIM:605814|ICD10:E72.23|OMIM:215700|UMLS:C0175683|SCTID:398680004|DOID:9273|Orphanet:187|OMIM:603471|MESH:D020159 owl:Class MONDO:0004739 biolink:NamedThing urea cycle disorder A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body. tmpaxzxjjyw_mondo_relaxed.owl UCD|urea cycle metabolism disorder|disorder of urea cycle metabolism|disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia|urea cycle disorders|inborn disorder of urea cycle metabolism and ammonia detoxification|urea cycle defect|inborn urea cycle disorder|disorder of urea cycle metabolism and ammonia detoxification Orphanet:79167|ICD10:E72.2|DOID:9267|UMLS:C0154246|ICD10:E72.20|SCTID:36444000|GARD:0007837|NCIT:C84785|MESH:D056806|ICD9:270.6 owl:Class MONDO:0007899 biolink:NamedThing lichen sclerosus et atrophicus A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis. tmpaxzxjjyw_mondo_relaxed.owl lichen sclerosis et atrophicus|lichen sclerosus et atrophicus|lichen sclerosis|lichen sclerosus|lichen SCLEROSUS ET ATROPHICUS|LSA MESH:D018459|Orphanet:33409|GARD:0006905|SCTID:25674000|OMIM:151590|ICD10:L90.0|UMLS:C0023652|NCIT:C26817 owl:Class MONDO:0024314 biolink:NamedThing parasitemia The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl Parasitemias MESH:D018512|UMLS:C0242723 owl:Class MONDO:0005135 biolink:NamedThing parasitic infectious disease A successful invasion of a host by an organism that uses the host for food and shelter. tmpaxzxjjyw_mondo_relaxed.owl disease, parasitic|diseases, parasitic|parasitism|disease caused by parasite|parasitic disease|parasitic infection|infestation|parasitic infectious disease|parasitosis|ectoparasitic disease|parasitemia|parasite infestation SCTID:57100005|UMLS:C0014238|ICD9:134.8|MESH:D010272|EFO:0001067|DOID:1398|ICD9:360.13|NCIT:C34587|ICD9:376.13|NCIT:C27864|ICD9:136.9|SCTID:17322007|MESH:D018512|ICD9:136.4|ICD9:134.9|ICD9:136.8|ICD10:H44.12|ICD9:129 owl:Class GO:0045839 biolink:NamedThing negative regulation of mitotic nuclear division Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of mitosis|inhibition of mitosis|downregulation of mitosis|negative regulation of mitosis|down regulation of mitosis owl:Class GO:0045930 biolink:NamedThing negative regulation of mitotic cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl downregulation of progression through mitotic cell cycle|down regulation of progression through mitotic cell cycle|negative regulation of mitotic cell cycle progression|down-regulation of progression through mitotic cell cycle|negative regulation of progression through mitotic cell cycle|inhibition of progression through mitotic cell cycle owl:Class MONDO:0010979 biolink:NamedThing Timothy syndrome Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. tmpaxzxjjyw_mondo_relaxed.owl TS|TIMOTHY syndrome|LQT8|long QT syndrome-syndactyly syndrome|Timothy syndrome|long QT syndrome type 8|long QT syndrome 8|long QT syndrome with syndactyly GARD:0009294|UMLS:C1832916|NCIT:C142894|Orphanet:65283|DOID:0060173|MESH:C536962|OMIM:601005|ICD10:I45.8|Orphanet:768|ICD10:G72.3 https://rarediseases.info.nih.gov/diseases/9294/timothy-syndrome owl:Class MONDO:0011589 biolink:NamedThing microphthalmia with coloboma 2 tmpaxzxjjyw_mondo_relaxed.owl microphthalmia, colobomatous, isolated 2|MCOPCB2|microphthalmia, isolated, with coloboma 2 MESH:C565300|UMLS:C1854018|Orphanet:98938|OMIM:605738 owl:Class MONDO:0000170 biolink:NamedThing microphthalmia, isolated, with coloboma A developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia with colobomatous cyst|MAC|colobomatous microphthalmia|MCOPCB1|microphthalmia associated with colobomatous cyst|microphthalmia-anophthalmia-coloboma syndrome|microphthalmos bilateral, colobomatous orbital cyst MESH:C537463|OMIM:605738|OMIMPS:300345|OMIM:615145|OMIM:610092|OMIM:251505|UMLS:CN228419|OMIM:614497|OMIM:611638|OMIM:613703|OMIM:300345|Orphanet:98938|OMIM:601186|ICD10:Q11.2|OMIM:616428|GARD:0003644 https://rarediseases.info.nih.gov/diseases/3644/microphthalmia-associated-with-colobomatous-cyst owl:Class HGNC:19698 biolink:NamedThing KCNV2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0031219 biolink:NamedThing mismatch repair cancer syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:276300 owl:Class MONDO:0021190 biolink:NamedThing DNA repair disease A disease that has its basis in the disruption of DNA repair. tmpaxzxjjyw_mondo_relaxed.owl chromosome instability syndromes|DNA repair-deficiency disorder|disorder, DNA repair-deficiency|Repairs, deficient DNA|chromosome instability syndrome|deficient DNA repair|DNA repair deficiency disorders|DNA Repairs, deficient|DNA repair disorder|DNA repair-deficiency|DNA repair-deficiencies|disorder of DNA repair|repair, deficient DNA|syndrome, chromosome instability|DNA repair deficiency|disorders, DNA repair-deficiency|deficiency of DNA repair|deficient DNA Repairs|syndromes, chromosome instability|DNA repair, deficient EFO:0008499|MESH:D049914|NCIT:C7757 owl:Class UBERON:0001919 biolink:NamedThing endothelium of vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004701 biolink:NamedThing venous system endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004142 biolink:NamedThing lung combined large cell neuroendocrine carcinoma A subtype of large cell neuroendocrine lung carcinoma characterized by the presence of large neuroendocrine cells in combination with adenocarcinoma, squamous cell carcinoma, giant cell carcinoma and/ or spindle cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl pulmonary combined large cell neuroendocrine carcinoma|combined large cell neuroendocrine carcinoma of the lung|combined large cell neuroendocrine carcinoma of lung|combined large cell lung neuroendocrine carcinoma DOID:7207|UMLS:C1333122|NCIT:C7267 owl:Class MONDO:0006167 biolink:NamedThing combined lung carcinoma A lung carcinoma characterized by the presence of large or small neuroendocrine carcinoma cells in combination with malignant glandular or squamous epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl combined carcinoma of the lung|combined lung carcinoma|combined carcinoma of lung|combined lung cancer NCIT:C7591|UMLS:C1333123|EFO:1000200 owl:Class MONDO:0005903 biolink:NamedThing pericardial tuberculosis Inflammation of the sac surrounding the heart (pericardium) due to mycobacterium tuberculosis infection. Pericarditis can lead to swelling (pericardial effusion), compression of the heart (cardiac tamponade), and preventing normal beating of the heart. tmpaxzxjjyw_mondo_relaxed.owl tuberculous pericarditis ICD9:017.90|DOID:4962|ICD10:A18.84|EFO:0007426|UMLS:C0031049|SCTID:67256000|MESH:D010495 owl:Class MONDO:0000368 biolink:NamedThing extrapulmonary tuberculosis A tuberculosis that occurs at body sites other than the lung. tmpaxzxjjyw_mondo_relaxed.owl SCTID:423997002|UMLS:C0679362|DOID:0050598 owl:Class PATO:0000387 biolink:NamedThing soft A hardness quality of giving little resistance to pressure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0000048 biolink:NamedThing hardness A physical quality inhering in a bearer by virtue of the bearer's resistance to pressure, being broken, or pierced tmpaxzxjjyw_mondo_relaxed.owl impenetrability|toughness owl:Class HGNC:13872 biolink:NamedThing RIPOR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009614 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia type cblB An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial. tmpaxzxjjyw_mondo_relaxed.owl methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|vitamin B12-responsive methylmalonic acidemia type cblB|vitamin B12-responsive methylmalonic aciduria, type cblB|methylmalonic aciduria cblB type|methylmalonic aciduria, cblB type|methylmalonic acidemia, cblB type|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type|methylmalonic acidemia cblB type DOID:0060743|ICD10:E71.1|UMLS:C1855102|OMIM:251110|GARD:0009479|NCIT:C142172|Orphanet:28|Orphanet:79311 owl:Class MONDO:0017214 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia Vitamin B12-responsive methylmalonic acidemia (MA) is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which responds to vitamin B12. There are three types: cblA, cblB and cblD-variant 2 (cblDv2). tmpaxzxjjyw_mondo_relaxed.owl adenosylcobalamin deficiency|vitamin B12-responsive methylmalonic aciduria OMIM:251110|OMIM:277410|Orphanet:28|SCTID:69614003|GARD:0012623|ICD10:E71.1|OMIM:251100 https://rarediseases.info.nih.gov/diseases/12623/vitamin-b12-responsive-methylmalonic-acidemia owl:Class UBERON:0035295 biolink:NamedThing left ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000467 biolink:NamedThing chromaffin cell of left ovary A chromaffin cell that is part of the left ovary. tmpaxzxjjyw_mondo_relaxed.owl FMA:74321 cell owl:Class CL:0000166 biolink:NamedThing chromaffin cell A cell that stores epinephrine secretory vesicles. During times of stress, the nervous system signals the vesicles to secrete their hormonal content. Their name derives from their ability to stain a brownish color with chromic salts. Characteristically, they are located in the adrenal medulla and paraganglia of the sympathetic nervous system. tmpaxzxjjyw_mondo_relaxed.owl phaeochromocyte BTO:0000259|FMA:69263 cell owl:Class GO:0045144 biolink:NamedThing meiotic sister chromatid segregation The cell cycle process in which sister chromatids are organized and then physically separated and randomly apportioned to two sets during the second division of the meiotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl meiosis II, chromosome segregation owl:Class GO:0045132 biolink:NamedThing meiotic chromosome segregation The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets during M phase of the meiotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011638 biolink:NamedThing neuroferritinopathy Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by progressive chorea or dystonia and subtle cognitive deficits. tmpaxzxjjyw_mondo_relaxed.owl adult basal ganglia disease|NBIA3|hereditary ferritinopathy|basal ganglia disease adult-onset|Neuroferritinopathy; basal ganglia disease, adult-onset|basal ganglia disease, adult-onset|neurodegeneration with brain iron accumulation type 3|ferritin-related neurodegeneration|neuroferritinopathy|neurodegeneration with brain iron accumulation 3 SCTID:699299001|OMIM:606159|ICD9:333.0|Orphanet:157846|DOID:0110737|UMLS:C1853578|GARD:0010686|MESH:C548080|ICD10:G23.0 Editor note: consider relation to basal ganglia owl:Class MONDO:0017763 biolink:NamedThing disorder of iron metabolism and transport tmpaxzxjjyw_mondo_relaxed.owl Orphanet:309842|ICD10:E83.1|UMLS:CN227206 owl:Class MONDO:0020478 biolink:NamedThing Leber plus disease Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON; see term) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations. tmpaxzxjjyw_mondo_relaxed.owl LHON plus disease ICD10:H47.2|DOID:0111754|OMIM:500001|Orphanet:99718|SCTID:719430008|OMIM:165200|UMLS:CN207347|UMLS:C4304725 owl:Class MONDO:0016793 biolink:NamedThing mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA tmpaxzxjjyw_mondo_relaxed.owl mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA|OXPHOS disease due to a point mutation of mitochondrial DNA|OXPHOS disease due to a point mutation of mtDNA 2022-03-01 UMLS:CN202050|Orphanet:254776 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO_0016387 owl:Class MONDO:0008608 biolink:NamedThing Down syndrome Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects. tmpaxzxjjyw_mondo_relaxed.owl trisomy 21|G trisomy|Down syndrome chromosome region|complete trisomy 21 syndrome|Down syndrome|leukemia, megakaryoblastic, of Down syndrome|Downs syndrome|Down's syndrome|Down's syndrome - trisomy 21|trisomy 21 (Down syndrome)|Down syndrome critical region|trisomy 21 syndrome|transient myeloproliferative disorder of Down syndrome MedDRA:10044688|ICD9:758.0|MESH:D004314|NCIT:C2993|SCTID:41040004|NIFSTD:nlx_dys_20090502|EFO:0001064|ICD10:Q90|Orphanet:870|OMIM:190685|ICD10:Q90.1|ICD10:Q90.0|ICD10:Q90.9|GARD:0010247|UMLS:C0013080|DOID:14250|ICD10:Q90.2 May be replaced by Down syndrome (http://www.orpha.net/ORDO/Orphanet_870) in the future owl:Class MONDO:0700124 biolink:NamedThing chromosome 21 disorder Chromosomal disorder in which chromosome 21 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0002854 biolink:NamedThing prostate sarcoma A rare malignant soft tissue neoplasm that arises from the prostate gland. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and stromal sarcoma. tmpaxzxjjyw_mondo_relaxed.owl prostate gland sarcoma|sarcoma of prostate gland|sarcoma of the prostate|prostate sarcoma|sarcoma of prostate UMLS:C0238393|NCIT:C7731|DOID:4054 owl:Class MONDO:0018078 biolink:NamedThing soft tissue sarcoma A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. tmpaxzxjjyw_mondo_relaxed.owl malignant soft tissue tumor|soft part sarcoma|non-Rhabdo. soft tissue sarcoma|connective tissue sarcoma|sarcoma of soft tissue|sarcoma of the soft tissue|malignant mesenchymal tumor|soft tissue sarcoma GARD:0004898|UMLS:CN204398|EFO:1001968|NCIT:C9306|SCTID:424952003|Orphanet:3394 owl:Class GO:0031324 biolink:NamedThing negative regulation of cellular metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of cellular metabolic process|down regulation of cellular metabolic process|downregulation of cellular metabolic process|negative regulation of cellular metabolism|inhibition of cellular metabolic process owl:Class GO:0048523 biolink:NamedThing negative regulation of cellular process Any process that stops, prevents, or reduces the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cellular physiological process|down regulation of cellular process|downregulation of cellular process|down-regulation of cellular process|inhibition of cellular process owl:Class MONDO:0011343 biolink:NamedThing follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts tmpaxzxjjyw_mondo_relaxed.owl follicular atrophoderma, perioral pigmented, with milia and epidermoid cysts OMIM:603587|UMLS:C1863692|MESH:C566360 owl:Class MONDO:0003364 biolink:NamedThing gallbladder leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the gallbladder. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of the gallbladder|leiomyosarcoma of gallbladder|leiomyosarcoma of gall bladder|gall bladder leiomyosarcoma|gallbladder leiomyosarcoma DOID:5275|UMLS:C1333746|NCIT:C5841 owl:Class MONDO:0017127 biolink:NamedThing inherited soft tissue tumor An instance of mesenchymal cell neoplasm that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary mesenchymal cell neoplasm|genetic mesenchymal tumor|genetic mesenchymal cell neoplasm|genetic soft tissue tumor Orphanet:271832|UMLS:CN202526 owl:Class MONDO:0034189 biolink:NamedThing primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:562639 owl:Class MONDO:0004789 biolink:NamedThing cholangitis An acute or chronic inflammatory process affecting the biliary tract. tmpaxzxjjyw_mondo_relaxed.owl biliary tract infection|cholangitis|inflammation of biliary tree|biliary tree inflammation UMLS:C0008311|ICD9:576.1|ICD10:K83.0|MESH:D002761|DOID:9446|NCIT:C26718|SCTID:82403002 owl:Class HGNC:9990 biolink:NamedThing RGR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012873 biolink:NamedThing Ehlers-Danlos syndrome, spondylocheirodysplastic type Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers. tmpaxzxjjyw_mondo_relaxed.owl spondylocheirodysplasia, Ehlers-Danlos syndrome-like|Ehlers-Danlos syndrome, spondylodysplastic type, 3|EDS, spondylocheirodysplastic type|SCD-EDS|EDSSPD3 Orphanet:157965|ICD10:Q79.6|UMLS:C2676510|OMIM:612350|MESH:C567340 owl:Class MONDO:0016761 biolink:NamedThing spondyloepiphyseal dysplasia An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis. tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia|spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia|SED and SEMD|spondylo-epi-(meta)-physeal dysplasia ICD9:756.9|DOID:0080027|Orphanet:253|SCTID:254062008|GARD:0007687|ICD10:Q77.7|MedDRA:10062920|Orphanet:252 owl:Class MONDO:0020087 biolink:NamedThing genetic lipodystrophy Genetic lipodystrophy. tmpaxzxjjyw_mondo_relaxed.owl genetic lipodystrophy|genetic lipodystrophy (disease) ICD10:E88.1|SCTID:724841000|UMLS:C4511302|Orphanet:98305 owl:Class UBERON:0002405 biolink:NamedThing immune system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000467 biolink:NamedThing anatomical system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002635 biolink:NamedThing periodontal disorder An inflammatory process of the gingival tissues and/or periodontal membrane of the teeth, resulting in an abnormally deep gingival sulcus, possibly producing periodontal pockets and loss of alveolar bone support. tmpaxzxjjyw_mondo_relaxed.owl disorder of periodontium|periodontium disease|periodontal disease|periodontium disorder|disease or disorder of periodontium|disease of supporting structures of teeth|periodontal disorder|periodontium disease or disorder|disease of periodontium SCTID:2556008|UMLS:C0031090|ICD10:K05.6|MESH:D010510|DOID:3388|ICD9:523.8|NCIT:C63743 owl:Class MONDO:0006999 biolink:NamedThing tooth disorder A disease involving the calcareous tooth. tmpaxzxjjyw_mondo_relaxed.owl calcareous tooth disease or disorder|disorder of calcareous tooth|calcareous tooth disease|tooth disorder|dental disorder|disease or disorder of calcareous tooth|disease of calcareous tooth MESH:D014076|EFO:1001216|UMLS:C0040435|DOID:1091|NCIT:C35077|SCTID:234947003 owl:Class MONDO:0002095 biolink:NamedThing vascular cancer A malignant neoplasm arising from the blood vessels. tmpaxzxjjyw_mondo_relaxed.owl vascular tumors|cancer of vasculature|pulmonary artery cancer|malignant tumor of pulmonary artery|blood vessel tumors (morphologic abnormality)|blood vessel tumors|blood vessel tumor (morphologic abnormality)|blood vessel tumor|malignant blood vessel tumor|neoplasm of great vessel|malignant tumor of pulmonary vein|blood vessel tumour disorder|pulmonary artery malignant neoplasm|Haemangiomatous tumour|leiomyosarcoma of the renal vein|vascular tissue neoplasm|malignant vascular neoplasm|vasculature cancer|pulmonary vein malignant neoplasm|malignant vascular tumor|blood vessel neoplasm|malignant blood vessel neoplasm|malignant neoplasm of vasculature|malignant vasculature neoplasm|renal vein leiomyosarcoma NCIT:C7388|MESH:D009383|DOID:175|NCIT:C8538 Editor note: see also NCIT:C7390 owl:Class MONDO:0012611 biolink:NamedThing polyhydramnios, megalencephaly, and symptomatic epilepsy tmpaxzxjjyw_mondo_relaxed.owl polyhydramnios, megalencephaly, and symptomatic epilepsy|PMSE|polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome|polyhydramnios-megalencephaly-symptomatic epilepsy syndrome|PMSE syndrome|pretzel syndrome OMIM:611087|MESH:C567020|Orphanet:500533|UMLS:C1970203|GARD:0012913 owl:Class MONDO:0012299 biolink:NamedThing nanophthalmos 2 Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene. tmpaxzxjjyw_mondo_relaxed.owl Nanophthalmia 2|nanophthalmos 2|nanophthalmos, autosomal recessive|nanophthalmos type 2|NNO2|nanophthalmia caused by mutation in MFRP|MFRP nanophthalmia UMLS:C1836006|Orphanet:35612|MESH:C563700|OMIM:609549 owl:Class MONDO:0005514 biolink:NamedThing nanophthalmia Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. tmpaxzxjjyw_mondo_relaxed.owl DOID:0080634|OMIM:615972|SCTID:716775009|Orphanet:35612|OMIM:611897|OMIM:600165|OMIM:609549 owl:Class MONDO:0015701 biolink:NamedThing T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus. tmpaxzxjjyw_mondo_relaxed.owl IL-7R|interleukin-7 receptor alpha deficiency|IL-7Ralpha deficiency|T-B+ SCID due to IL-7Ralpha deficiency DOID:0060015|ICD10:D81.2|OMIM:608971|UMLS:C1837028|Orphanet:169154 MONDO:0000575 owl:Class MONDO:0044200 biolink:NamedThing T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. tmpaxzxjjyw_mondo_relaxed.owl T-cell negative B-cell positive SCID|T-B+ SCID Orphanet:317416|ICD10:D81.2 Editor note: add logical definition owl:Class MONDO:0005774 biolink:NamedThing glanders A condition resulting from infection by Burkholderia mallei, which mainly affects horses. tmpaxzxjjyw_mondo_relaxed.owl Burkholderia mallei infection|infection due to Pseudomonas mallei|farcy pipes|Burkholderia mallei|Burkholderia mallei disease or disorder|Burkholderia mallei caused disease or disorder|Burkholderia mallei infectious disease DOID:13444|ICD9:024|EFO:0007286|UMLS:C0017589|GARD:0009536|ICD10:A24.0|SCTID:4639008|NCIT:C34638|MESH:D005896 https://rarediseases.info.nih.gov/diseases/9536/glanders owl:Class GO:0010675 biolink:NamedThing regulation of cellular carbohydrate metabolic process Any process that modulates the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031323 biolink:NamedThing regulation of cellular metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular metabolism owl:Class MONDO:0003975 biolink:NamedThing Littre gland carcinoma A carcinoma involving a male urethral gland. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of Littre glands|carcinoma of Littré glands|carcinoma of LittrC) glands|male urethral gland carcinoma|carcinoma of male urethral gland NCIT:C39865|DOID:6721|UMLS:C1516285 owl:Class MONDO:0021327 biolink:NamedThing carcinoma of urethra A carcinoma that involves the urethra. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the urethra|carcinoma of urethra|urethra carcinoma|urethral carcinoma|urethral cancer NCIT:C9106|SCTID:448954003 owl:Class MONDO:0034109 biolink:NamedThing congenital myopathy with reduced type 2 muscle fibers tmpaxzxjjyw_mondo_relaxed.owl OMIM:618414|Orphanet:544602 owl:Class MONDO:0019952 biolink:NamedThing congenital myopathy tmpaxzxjjyw_mondo_relaxed.owl batten Turner congenital myopathy|myopathy congenital|congenital myopathy ICD10:G71.2|OMIM:255300|DOID:0080100|Orphanet:97245|UMLS:C0027127|GARD:0005898|MedDRA:10062547 owl:Class GO:1901716 biolink:NamedThing negative regulation of gamma-aminobutyric acid catabolic process Any process that stops, prevents or reduces the frequency, rate or extent of gamma-aminobutyric acid catabolic process. tmpaxzxjjyw_mondo_relaxed.owl down regulation of gamma-aminobutyric acid catabolic process|inhibition of 4-aminobutyrate catabolism|inhibition of gamma-aminobutyric acid catabolism|downregulation of 4-aminobutanoate catabolism|down-regulation of gamma-aminobutyric acid catabolic process|down regulation of 4-aminobutyrate catabolic process|down regulation of GABA catabolism|downregulation of gamma-aminobutyric acid degradation|inhibition of GABA catabolism|down-regulation of 4-aminobutanoate catabolic process|inhibition of gamma-aminobutyric acid breakdown|inhibition of 4-aminobutanoate catabolism|down-regulation of gamma-aminobutyric acid catabolism|down-regulation of GABA catabolic process|downregulation of gamma-aminobutyric acid catabolic process|down regulation of GABA catabolic process|negative regulation of GABA catabolic process|downregulation of 4-aminobutyrate catabolic process|negative regulation of gamma-aminobutyric acid degradation|down regulation of gamma-aminobutyric acid breakdown|downregulation of GABA catabolic process|negative regulation of 4-aminobutyrate catabolism|inhibition of gamma-aminobutyric acid catabolic process|down regulation of 4-aminobutyrate catabolism|downregulation of 4-aminobutyrate catabolism|down-regulation of 4-aminobutyrate catabolic process|inhibition of GABA catabolic process|down-regulation of GABA catabolism|negative regulation of GABA catabolism|inhibition of 4-aminobutyrate catabolic process|down-regulation of gamma-aminobutyric acid breakdown|negative regulation of gamma-aminobutyric acid catabolism|downregulation of GABA catabolism|down-regulation of 4-aminobutanoate catabolism|negative regulation of 4-aminobutanoate catabolism|down-regulation of 4-aminobutyrate catabolism|downregulation of 4-aminobutanoate catabolic process|down regulation of 4-aminobutanoate catabolic process|negative regulation of gamma-aminobutyric acid breakdown|inhibition of 4-aminobutanoate catabolic process|downregulation of gamma-aminobutyric acid catabolism|down-regulation of gamma-aminobutyric acid degradation|negative regulation of 4-aminobutyrate catabolic process|down regulation of gamma-aminobutyric acid degradation|down regulation of gamma-aminobutyric acid catabolism|downregulation of gamma-aminobutyric acid breakdown|negative regulation of 4-aminobutanoate catabolic process|inhibition of gamma-aminobutyric acid degradation|down regulation of 4-aminobutanoate catabolism owl:Class GO:1901715 biolink:NamedThing regulation of gamma-aminobutyric acid catabolic process Any process that modulates the frequency, rate or extent of gamma-aminobutyric acid catabolic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of 4-aminobutanoate catabolic process|regulation of GABA catabolism|regulation of gamma-aminobutyric acid degradation|regulation of 4-aminobutyrate catabolic process|regulation of 4-aminobutanoate catabolism|regulation of gamma-aminobutyric acid catabolism|regulation of GABA catabolic process|regulation of gamma-aminobutyric acid breakdown|regulation of 4-aminobutyrate catabolism owl:Class GO:0042158 biolink:NamedThing lipoprotein biosynthetic process The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. tmpaxzxjjyw_mondo_relaxed.owl lipoprotein biosynthesis|lipoprotein formation|lipoprotein anabolism|lipoprotein synthesis owl:Class GO:1901566 biolink:NamedThing organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. tmpaxzxjjyw_mondo_relaxed.owl organonitrogen compound anabolism|organonitrogen compound synthesis|organonitrogen compound biosynthesis|organonitrogen compound formation owl:Class UBERON:0004998 biolink:NamedThing mucosa of pylorus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001199 biolink:NamedThing mucosa of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043062 biolink:NamedThing extracellular structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. tmpaxzxjjyw_mondo_relaxed.owl extracellular structure organization and biogenesis|extracellular structure organisation owl:Class GO:0016043 biolink:NamedThing cellular component organization A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. tmpaxzxjjyw_mondo_relaxed.owl cellular component organization at cellular level|cellular component organisation in other organism|cellular component organization in other organism|cell organisation|cellular component organisation at cellular level|cell organization and biogenesis owl:Class MONDO:0002217 biolink:NamedThing central nervous system sarcoma A sarcoma that arises from the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl central nervous system sarcoma|CNS sarcoma|sarcoma of the central nervous system|sarcoma of the CNS|sarcoma of CNS|sarcoma of central nervous system NCIT:C5153|UMLS:C1332892|DOID:2133 owl:Class MONDO:0002124 biolink:NamedThing secondary lacrimal atrophy tmpaxzxjjyw_mondo_relaxed.owl consecutive atrophy of lacrimal gland|secondary atrophy of lacrimal gland|secondary lacrimal atrophy DOID:1822|ICD10:H04.15|SCTID:75068001|ICD9:375.14 owl:Class MONDO:0001854 biolink:NamedThing lacrimal apparatus disorder A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. tmpaxzxjjyw_mondo_relaxed.owl disorder of lacrimal apparatus|lacrimal apparatus disease or disorder|disease of lacrimal apparatus|disease or disorder of lacrimal apparatus|lacrimal apparatus disease|lacrimal system disease|lacrimal system disorder|disorder of lacrimal system|lachrymal system disorders SCTID:31053003|ICD9:375.9|MESH:D007766|ICD9:375.69|ICD10:H04|NCIT:C26809|ICD10:H04.9|ICD9:375.89|DOID:1400|ICD9:375 owl:Class UBERON:0000167 biolink:NamedThing oral cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class BFO:0000141 biolink:NamedThing immaterial entity tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901137 biolink:NamedThing carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. tmpaxzxjjyw_mondo_relaxed.owl carbohydrate derivative anabolism|carbohydrate derivative synthesis|carbohydrate derivative formation|carbohydrate derivative biosynthesis owl:Class GO:1901135 biolink:NamedThing carbohydrate derivative metabolic process The chemical reactions and pathways involving carbohydrate derivative. tmpaxzxjjyw_mondo_relaxed.owl carbohydrate derivative metabolism owl:Class MONDO:0021238 biolink:NamedThing cornea neoplasm A neoplasm (disease) that involves the cornea. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of cornea|tumor of cornea|cornea tumor|cornea neoplasm (disease)|tumor of the cornea|corneal neoplasm|corneal tumor|neoplasm of the cornea UMLS:C0339304|NCIT:C4361 owl:Class UBERON:0008971 biolink:NamedThing left colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000064 biolink:NamedThing organ part tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0015024 biolink:NamedThing increased porosity An increase in porosity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0000973 biolink:NamedThing porosity A structure quality inhering in a bearer by virtue of the bearer's disposition to admit the passage of gas or liquid through pores or interstices. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060084 biolink:NamedThing synaptic transmission involved in micturition The process of communication from a neuron to a smooth muscle in the bladder that contributes to the expulsion of urine from the body. tmpaxzxjjyw_mondo_relaxed.owl synaptic transmission involved in urination owl:Class GO:0007274 biolink:NamedThing neuromuscular synaptic transmission The process of synaptic transmission from a neuron to a muscle, across a synapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0410043 biolink:NamedThing Abnormal neural tube morphology Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). tmpaxzxjjyw_mondo_relaxed.owl 2017-09-20 00:25:37+00:00 Fyler:4339 ORCID:0000-0001-5208-3432 human_phenotype owl:Class HP:0002011 biolink:NamedThing Morphological central nervous system abnormality A structural abnormality of the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl Morphological abnormality of the CNS|Morphological abnormality of the central nervous system|Abnormality of the central nervous system|Central nervous system disease SNOMEDCT_US:23853001|UMLS:C0007682|UMLS:C4021765|MSH:D002493 HP:0002405|HP:0007319|HP:0002481|HP:0002413 human_phenotype owl:Class HGNC:23109 biolink:NamedThing FAT4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016239 biolink:NamedThing cystinosis Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. tmpaxzxjjyw_mondo_relaxed.owl cystine disease|cystine storage disease|cystinosis|Cystinoses|Protein defect of cystin transport|cystine diathesis OMIM:219900|MedDRA:10011777|DOID:1064|MESH:D003554|UMLS:C0010690|Orphanet:213|SCTID:190681003|GARD:0006236|ICD10:E72.04|UMLS:CN035091|ICD10:E72.0|OMIM:219750|NCIT:C2976|OMIM:219800 https://rarediseases.info.nih.gov/diseases/6236/cystinosis owl:Class MONDO:0019246 biolink:NamedThing inborn disorder of lysosomal amino acid transport tmpaxzxjjyw_mondo_relaxed.owl disorder of lysosomal amino acid transport UMLS:CN227605|Orphanet:79207 owl:Class UBERON:0000965 biolink:NamedThing lens of camera-type eye tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005389 biolink:NamedThing transparent eye structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010651 biolink:NamedThing Menkes disease Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair. tmpaxzxjjyw_mondo_relaxed.owl MD|X-linked copper deficiency|Mk|steely hair disease|copper transport disease|Menkes disease|Menkes kinky hair syndrome|steely hair syndrome|Menkes syndrome|Menkea syndrome|kinky hair disease|MNK|Menkes kinky-hair syndrome|Trichopoliodystrophy|kinky hair syndrome ICD9:759.89|NCIT:C75486|Orphanet:565|MedDRA:10027294|GARD:0001521|OMIM:309400|SCTID:59178007|MESH:D007706|UMLS:C0022716|ICD10:E83.0|DOID:1838 https://rarediseases.info.nih.gov/diseases/1521/menkes-disease owl:Class MONDO:0019282 biolink:NamedThing syndromic hair shaft abnormality tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227611|Orphanet:79367 owl:Class UBERON:0014783 biolink:NamedThing cloacal muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001630 biolink:NamedThing muscle organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021053 biolink:NamedThing carotid body paraganglioma A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck. tmpaxzxjjyw_mondo_relaxed.owl carotid body paraganglioma|chemodectoma|carotid body tumor|paraganglioma of carotid body|tumor of carotid body|carotid body chemodectoma|paraganglioma of the carotid body|chemodectoma, undetermined|tumor of the carotid body ICDO:8692/1|GARD:0010598|UMLS:C0007279|NCIT:C2932 owl:Class MONDO:0043218 biolink:NamedThing neurovascular disorder A disorder of the nervous system related to a vascular etiology. tmpaxzxjjyw_mondo_relaxed.owl neurovascular disorder|vasculature nervous system disorder|nervous system disorder of vasculature|disease of nervous system vasculature UMLS:C3898144|NCIT:C117007 owl:Class MONDO:0016419 biolink:NamedThing hereditary breast carcinoma Breast carcinoma that has developed in relatives of patients with history of breast carcinoma. tmpaxzxjjyw_mondo_relaxed.owl breast cancer, familial Male|familial breast carcinoma|breast cancer, familial|hereditary breast cancer|familial cancer of breast|familial cancer of the breast|familial breast cancer|hereditary breast carcinoma ICD10:C50.1|OMIM:612555|ICD10:C50.3|MESH:C562840|ICD10:C50.0|OMIM:114480|ICD10:C50.2|OMIM:605365|OMIM:600048|ICD10:C50.6|SCTID:254843006|ICD10:C50.8|ICD10:C50.5|Orphanet:227535|OMIM:604370|NCIT:C4503|ICD10:C50.4|OMIM:613399|UMLS:C0346153 Editor note: check w clingen before merge https://github.com/monarch-initiative/mondo/issues/84 owl:Class MONDO:0060577 biolink:NamedThing neurodevelopmental disorder with microcephaly, ataxia, and seizures tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with microcephaly, ataxia, and seizures|NEDMAS UMLS:C4540188|OMIM:617709 owl:Class MONDO:0021427 biolink:NamedThing squamous cell carcinoma of lip A squamous cell carcinoma that involves the lip. tmpaxzxjjyw_mondo_relaxed.owl lip squamous cell carcinoma|squamous cell carcinoma of the Lip|lip scc|scc of Lip|scc of the Lip UMLS:C0280302|OMIM:275355|Orphanet:502366|NCIT:C4042|SCTID:255071008 owl:Class MONDO:0021333 biolink:NamedThing carcinoma of lip A carcinoma that involves the lip. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of lip|lip cancer|lip carcinoma|carcinoma of the Lip SCTID:269515006|NCIT:C3490|UMLS:C0149637 owl:Class HGNC:930 biolink:NamedThing B4GALT7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006096 biolink:NamedThing glycolytic process The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules. tmpaxzxjjyw_mondo_relaxed.owl anaerobic glycolysis|modifed Embden-Meyerhof pathway|Embden-Meyerhof pathway|Embden-Meyerhof-Parnas pathway|glycolysis owl:Class GO:0006757 biolink:NamedThing ATP generation from ADP The process of introducing a phosphate group into ADP, adenosine diphosphate, to produce ATP. tmpaxzxjjyw_mondo_relaxed.owl ADP phosphorylation owl:Class MONDO:0009712 biolink:NamedThing congenital multicore myopathy with external ophthalmoplegia An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity. tmpaxzxjjyw_mondo_relaxed.owl multiminicore myopathy multicore myopathy with external ophthalmoplegia|minicore myopathy|minicore myopathy, antenatal onset, with arthrogryposis|multiminicore disease with external ophthalmoplegia|minicore myopathy with external ophthalmoplegia|multicore myopathy|multicore myopathy with external ophthalmoplegia Orphanet:598|OMIM:255320|NCIT:C150608|UMLS:C1850674|Orphanet:98905|GARD:0010316|ICD10:G71.2 owl:Class MONDO:0018948 biolink:NamedThing multiminicore myopathy Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. tmpaxzxjjyw_mondo_relaxed.owl multiminicore disease|multicore disease|MmD|multicore myopathy Orphanet:598|OMIM:602771|OMIM:255320|UMLS:C0270962|GARD:0009130|SCTID:55133004|OMIM:117000|ICD10:G71.2 owl:Class CL:0001030 biolink:NamedThing CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor tmpaxzxjjyw_mondo_relaxed.owl Originally described in the dendritic cell ontology (DC_CL:1111100)(PMID:19243617). cell owl:Class CL:0001060 biolink:NamedThing hematopoietic oligopotent progenitor cell, lineage-negative A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. Cell lacks hematopoeitic lineage markers. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-01-06T03:43:27Z cell owl:Class MONDO:0007534 biolink:NamedThing Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations. tmpaxzxjjyw_mondo_relaxed.owl EMG syndrome|Wiedemann-Beckwith syndrome|Beckwith-Wiedemann syndrome chromosome region|exomphalos macroglossia gigantism syndrome|Wiedemann-Beckwith syndrome (WBS)|exomphalos-macroglossia-gigantism syndrome|Beckwith-Wiedemann syndrome|BWS Orphanet:116|MESH:D001506|SCTID:81780002|GARD:0003343|OMIM:130650|ICD9:759.89|MedDRA:10050344|NCIT:C34415|DOID:5572|ICD10:Q87.3|UMLS:C0004903 https://rarediseases.info.nih.gov/diseases/3343/beckwith-wiedemann-syndrome owl:Class MONDO:0017891 biolink:NamedThing inherited renal cancer-predisposing syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203941|Orphanet:319328 owl:Class MONDO:0009905 biolink:NamedThing urban-Rogers-Meyer syndrome This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. tmpaxzxjjyw_mondo_relaxed.owl Prader-Willi habitus, osteopenia, and camptodactyly|Prader-Willi habitus-osteopenia-camptodactyly syndrome|urban-Rogers-Meyer syndrome|intellectual disability-short stature-hand contractures-genital anomalies syndrome UMLS:C0796189|OMIM:264010|Orphanet:3409|SCTID:716334004|GARD:0005426|ICD10:Q87.8|MESH:C538276 owl:Class HGNC:26927 biolink:NamedThing FOXRED1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022025 biolink:NamedThing boylan dew greco syndrome tmpaxzxjjyw_mondo_relaxed.owl congenital hypomyelination neuropathy with arthrogryposis multiplex congenita UMLS:C2931419|MESH:C537083|GARD:0000954 https://rarediseases.info.nih.gov/diseases/954/boylan-dew-greco-syndrome owl:Class MONDO:0008779 biolink:NamedThing arthrogryposis A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth. tmpaxzxjjyw_mondo_relaxed.owl congenital multiple arthrogryposis|congenital multiple Arthrogryposes|Arthrogryposes, congenital multiple UMLS:C0003886|MESH:D001176|EFO:0003857|NCIT:C84572 owl:Class MONDO:0024359 biolink:NamedThing central sleep apnea due to periodic breathing tmpaxzxjjyw_mondo_relaxed.owl central sleep apnea due to periodic breathing SCTID:85721000119105|ICD9:327.27|UMLS:C3662057|ICD9:786.09 owl:Class MONDO:0004731 biolink:NamedThing central sleep apnea syndrome A broad classification of disorders which includes 6 subtypes (primary central sleep apnea, central sleep apnea due to Cheyne-Stokes breathing pattern, central sleep apnea due to medical condition not Cheyne-Stokes, central sleep apnea due to high-altitude periodic breathing, central sleep apnea due to drug or substance and primary sleep apnea of infancy) that are each characterized by interruptions in breathing while asleep. It is caused by improper signaling from the brainstem to respiratory muscles and is triggered by either hypoventilation or hyperventilation. In adults, this disorder may arise following a stroke, congestive heart failure, trauma, infection or the use of narcotic medications. It is more common in older males and may present as a co-morbid condition to obesity. Clinical signs include snoring, insomnia or hypersomnia, difficulty concentrating and fatigue. Recurrent episodes of hypoxia/hypoxemia have long-term detrimental effects on cardiovascular health. tmpaxzxjjyw_mondo_relaxed.owl Breathings, central sleep-disordered|sleep-disordered Breathings, central|central sleep disordered breathing|Apneas, central|central sleep apnea|secondary central sleep apnea|central sleep-disordered breathing|alveolar hypoventilations, central|sleep-disordered breathing, central|alveolar hypoventilation, central|ondine syndrome|central alveolar hypoventilation|sleep disordered breathing, central|apnea, sleep, central|central sleep apnea syndrome|central sleep apnea, primary|apnea, central|central sleep Apneas|central alveolar hypoventilation syndrome|apnea, central sleep|primary central sleep apnea|central sleep-disordered Breathings|central apnea|Apneas, central sleep|sleep Apneas, central|sleep apnea, lethal central|breathing, central sleep-disordered|hypoventilations, central alveolar|hypoventilation, central alveolar|central sleep apnea, secondary|central Apneas UMLS:C3887547|OMIM:207720|ICD9:327.21|OMIM:107640|ICD10:G47.31|SCTID:9741000119101|DOID:9220|MESH:D020182|UMLS:C0751762|NCIT:C27169|SCTID:27405005 owl:Class MONDO:0100396 biolink:NamedThing acute myeloid leukemia, t(7;12)(q36;p13) Any acute myeloid leukemia that has the chromosomal anomaly t(7;12)(q36;p13). (A chromosomal translocation involving the ETV6 gene on chromosome 12p13 and HLXB9 gene on chromosome 7q36.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(7;12)(q36;p13) NCIT:C122690|NCIT:C122689 owl:Class MONDO:0018874 biolink:NamedThing acute myeloid leukemia Acute myeloid leukemia (AML) is a group of neoplasms arising from precursor cells committed to the myeloid cell-line differentiation. All of them are characterized by clonal expansion of myeloid blasts. AML manifests by fever, pallor, anemia, hemorrhages and recurrent infections. tmpaxzxjjyw_mondo_relaxed.owl acute myelogenous leukemias|acute Nonlymphocytic leukemia|AML - acute myeloid leukemia|acute myelogenous leukemia|acute non lymphoblastic leukemia|hematopoeitic - acute Myleogenous leukemia (AML)|acute myeloblastic leukemia|leukemia, myelocytic, acute|leukemia, acute myeloid, susceptibility to|leukemia, acute myelogenous|AML|acute myeloid leukemia|leukemia, acute myeloid|acute myeloid leukemia (AML)|acute myelocytic leukemia|acute granulocytic leukemia|acute nonlymphocytic leukemia|myeloid leukemia, acute|ANLL ICD9:205.00|SCTID:91861009|MedDRA:10000880|NCIT:C3171|ICD10:C92.0|EFO:0000222|ONCOTREE:AML|ICD10:C92.00|KEGG:05221|ICD9:205.0|UMLS:C0023467|MESH:D015470|OMIM:601626|GARD:0012757|GARD:0000537|ICDO:9861/3|DOID:9119|Orphanet:519 https://rarediseases.info.nih.gov/diseases/12757/acute-myeloid-leukemia|https://rarediseases.info.nih.gov/diseases/537/acute-non-lymphoblastic-leukemia owl:Class MONDO:0043768 biolink:NamedThing thrombocytopenic purpura Purpura associated with a reduction in circulating blood platelets which can result from a variety of factors. tmpaxzxjjyw_mondo_relaxed.owl thrombocytopenic purpura|purpura, thrombopenic|thrombopenic purpura|thrombopenic purpuras|thrombocytopenic purpuras|purpuras, thrombocytopenic|purpuras, thrombopenic UMLS:C0857305|MESH:D011696|SCTID:302873008|NCIT:C26870 owl:Class MONDO:0002610 biolink:NamedThing purpura A small blood vessel hemorrhage into the skin and/or mucous membranes. Newer lesions appear reddish in color. Older lesions are usually a darker purple color and eventually become a brownish-yellow color. tmpaxzxjjyw_mondo_relaxed.owl purpuric disorder|purpura|purpura (disease) purpura (disease) ICD10:D69.2|SCTID:387778001|UMLS:C0034150|NCIT:C78787|DOID:3326|MESH:D011693|HP:0000979 owl:Class UBERON:0008196 biolink:NamedThing muscle of pectoral girdle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014892 biolink:NamedThing skeletal muscle organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005753 biolink:NamedThing epiglottitis Inflammation of the epiglottis. tmpaxzxjjyw_mondo_relaxed.owl acute epiglottitis and supraglottitis|inflammation of mucosa of epiglottis|mucosa of epiglottis inflammation|supraglottitis MESH:D004826|DOID:9398|SCTID:29608009|UMLS:C0014541|EFO:0007261|ICD10:J05.10|ICD10:J05.1|SCTID:80384002|ICD9:464.3|NCIT:C116007 owl:Class MONDO:0019833 biolink:NamedThing pituitary hormone deficiency from tumoral origin tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206780|Orphanet:95503 Editor note: Orphanet classifies many things under here that violate the true-path rule; for example menigioma owl:Class MONDO:0019832 biolink:NamedThing acquired pituitary hormone deficiency An instance of hypopituitarism that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired hypopituitarism Orphanet:95502|ICD10:E23.0 Editor note: check this owl:Class PATO:0000406 biolink:NamedThing curved A curvature quality inhering in a bearer by virtue of the bearer's having or being marked by a curve or smoothly rounded bend. tmpaxzxjjyw_mondo_relaxed.owl curled|bowing owl:Class PATO:0001591 biolink:NamedThing curvature A surface shape quality inhering in a bearer by virtue of the bearer's exhibiting a degree of bending. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008295 biolink:NamedThing sporadic porphyria cutanea tarda An instance of porphyria cutanea tarda that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl porphyria cutanea tarda type I|acquired porphyria cutanea tarda|PCT, 'sporadic' type|porphyria cutanea tarda, type 1|PCT, type 1|porphyria cutanea tarda, type I Orphanet:101330|SCTID:402479002|OMIM:176090|UMLS:C1867968|Orphanet:443057|ICD10:E80.1|MESH:C566768|UMLS:C1276127 Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial owl:Class MONDO:0006504 biolink:NamedThing acquired metabolic disease An instance of metabolic disease that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired metabolic disease DOID:0060158|EFO:1000639 owl:Class MONDO:0004593 biolink:NamedThing Bartholin duct cyst Distension of the Bartholin gland duct caused by an accumulation of mucus in the duct, usually as a result of obstruction of the gland duct orifice. tmpaxzxjjyw_mondo_relaxed.owl cyst of Bartholin's gland duct|cyst of Bartholin's gland|Bartholin's cyst|Bartholin's duct cyst DOID:851|ICD10:N75.0|NCIT:C26706|ICD9:616.2|UMLS:C0004767|SCTID:57044006 owl:Class MONDO:0002051 biolink:NamedThing integumentary system disorder A disease involving the integumental system. tmpaxzxjjyw_mondo_relaxed.owl integumental system disease or disorder|disorder of integument|disease of integumental system|integumentary disease|integumental system disease|disorder of integumental system|disease or disorder of integumental system UMLS:C1290011|DOID:16|SCTID:128598002 MONDO:0045027 owl:Class MONDO:0016932 biolink:NamedThing partial duplication of chromosome 11 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome 11|partial duplication of chromosome type 11 SCTID:726350006|Orphanet:262653 owl:Class MONDO:0008713 biolink:NamedThing acrodermatitis enteropathica Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure. tmpaxzxjjyw_mondo_relaxed.owl acrodermatitis enteropathica, zinc deficiency type|Brandt syndrome|acrodermatitis enteropathica|inherited zinc deficiency|enteropathica|acrodermatitis enteropathica, zinc-deficiency type|ae|Danbolt-Cross syndrome|acrodermatitis enteropathica zinc deficiency type|AEZ GARD:0005723|SCTID:37702000|NCIT:C128802|ICD9:686.8|ICD10:E83.2|Orphanet:37|GARD:0006343|MESH:C538178|UMLS:C0221036|DOID:0050605|OMIM:201100 MONDO:0023070 https://rarediseases.info.nih.gov/diseases/6343/enteropathica|https://rarediseases.info.nih.gov/diseases/5723/acrodermatitis-enteropathica owl:Class MONDO:0015188 biolink:NamedThing metabolic disorder with intestinal involvement A metabolic disease that involves the intestine. tmpaxzxjjyw_mondo_relaxed.owl intestine metabolic disease|metabolic disease of intestine 2022-03-01 Orphanet:104013|UMLS:CN197528 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class UBERON:0001480 biolink:NamedThing proximal carpal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015078 biolink:NamedThing proximal carpal endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016256 biolink:NamedThing Hennekam syndrome Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl lymphangiectasies and lymphedema Hennekam type|intestinal lymphagiectasia lymphedema intellectual deficit syndrome|lymphedem-lymphangiectasia-intellectual disability syndrome|Hennekam lymphangiectasia-lymphedema syndrome|lymphedema-lymphangiectasia-intellectual disability syndrome|Hennekam lymphangiectasia lymphedema syndrome ICD10:Q87.8|OMIM:616006|OMIM:235510|DOID:0060366|SCTID:234146006|GARD:0003318|UMLS:C0340834|Orphanet:2136|OMIMPS:235510|ICD9:457.1 owl:Class MONDO:0019520 biolink:NamedThing syndromic lymphedema A lymphedema that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic lymphedema|syndrome associated with lymphedema UMLS:CN227645|Orphanet:89832 owl:Class MONDO:0021026 biolink:NamedThing genetic epidermal appendage anomaly An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic epidermal appendage anomaly Orphanet:183447 owl:Class MONDO:0021396 biolink:NamedThing polyp of vulva A polyp that involves the mammalian vulva. tmpaxzxjjyw_mondo_relaxed.owl vulvar polyp|mammalian vulva polyp|vulva polyp|polyp of the vulva ICD10:N84.3|NCIT:C3978|UMLS:C0269218|SCTID:57158005|ICD9:624.6 owl:Class MONDO:0005079 biolink:NamedThing polyp A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. tmpaxzxjjyw_mondo_relaxed.owl polyp SCTID:441456002|MESH:D011127|ICD10:N84|EFO:0000662|NCIT:C3340 owl:Class MONDO:0021118 biolink:NamedThing intestinal neoplasm A benign or malignant neoplasm involving the small or large intestine. tmpaxzxjjyw_mondo_relaxed.owl bowel neoplasm|tumor of the intestines|intestinal neoplasms|tumor of intestine|intestinal neoplasm|tumor of intestines|neoplasm of the intestines|intestine tumor|intestine neoplasm|intestinal benign neoplasm|neoplasm of intestine|intestine neoplasm (disease)|intestinal tumors|intestinal tumor|intestine growth|neoplasm of intestinal tract|neoplasm of intestines MESH:D007414|SCTID:126769007|ONCOTREE:BOWEL|NCIT:C3141|DOID:4610 owl:Class HP:0004408 biolink:NamedThing Abnormality of the sense of smell An anomaly in the ability to perceive and distinguish scents (odors). tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the sense of smell|Abnormality of olfaction|Abnormal sense of smell|Smell defect UMLS:C4021655 peter 2008-03-18T09:21:00Z HP:0004410 human_phenotype owl:Class HP:0000366 biolink:NamedThing Abnormality of the nose An abnormality of the nose. tmpaxzxjjyw_mondo_relaxed.owl Nasal malformation|Abnormality of the nose|Nasal abnormality|Malformation of the nose|Nasal anomaly|Anomaly of the nose|Deformity of the nose|Nasal deformity UMLS:C0265736|UMLS:C2235909|SNOMEDCT_US:72089000|SNOMEDCT_US:128274005|UMLS:C0240547 human_phenotype owl:Class MONDO:0019499 biolink:NamedThing Turner syndrome Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome. tmpaxzxjjyw_mondo_relaxed.owl chromosome X monosomy X|XO syndrome|45,X syndrome|genital dwarfism|monosomy X syndrome|45,X0 syndrome|monosomy X|Schereshevkii Turner syndrome|gonadal dysgenesis Turner type|45,X gonadal dysgenesis|Bonnevie-Ullrich syndrome|Bonnevie-Ulrich syndrome|Ullrich-Turner syndrome|45,X/46,XX syndrome|45, X syndrome|Turner Varny syndrome|genital dwarfism, Turner type|gonadal dysgenesis - Turner|karyotype 45, X|45X syndrome|gonadal dysgenesis (45,X)|gonadal dysgenesis GARD:0002540|ICD9:758.7|SCTID:38804009|MESH:D014424|MedDRA:10045181|ICD10:Q96.1|Orphanet:881|ICD10:Q96.2|ICD10:Q96.4|GARD:0007831|ICD10:Q96.0|ICD10:Q96|GARD:0002459|GARD:0002458|UMLS:C0041408|ICD10:Q96.9|DOID:3491|NCIT:C26900|ICD10:Q96.8|ICD10:Q96.3 Editor note: consider splitting BU syndrome https://rarediseases.info.nih.gov/diseases/2540/gonadal-dysgenesis-turner-type|https://rarediseases.info.nih.gov/diseases/7831/turner-syndrome|https://rarediseases.info.nih.gov/diseases/2458/genital-dwarfism owl:Class MONDO:0015003 biolink:NamedThing dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities tmpaxzxjjyw_mondo_relaxed.owl dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; DYTOABG|DYTOABG|dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities|dystonia 29, childhood-onset Orphanet:508093|UMLS:C4310634|OMIM:617282 owl:Class MONDO:0018609 biolink:NamedThing syndromic hereditary optic neuropathy A hereditary optic neuropathy that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with hereditary optic neuropathy|syndromic hereditary optic neuropathy UMLS:CN237645|Orphanet:441434 owl:Class HP:0100037 biolink:NamedThing Abnormality of the scalp hair An abnormality of the hair of head. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the scalp hair UMLS:C4022384 doelkens 2010-06-22T05:29:31Z human_phenotype owl:Class HP:0001965 biolink:NamedThing Abnormal scalp morphology Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. tmpaxzxjjyw_mondo_relaxed.owl Anomaly of scalp|Abnormality of the scalp UMLS:C4025734 The scalp of the head has the following five layers: 1) skin and head hair; 2) connective tissue; 3) the aponeurosis (a layer of dense fibrous tissue); 4) loose areolar connective tissue; and 5) the periosteum of the skull bones. human_phenotype owl:Class MONDO:0006718 biolink:NamedThing cutaneous syphilis Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409) tmpaxzxjjyw_mondo_relaxed.owl Treponema pallidum skin disease caused by bacterial infection|Treponema pallidum caused skin disease caused by bacterial infection ICD10:A50.06|MESH:D013591|EFO:1000887 owl:Class MONDO:0005976 biolink:NamedThing syphilis A contagious bacterial infection caused by the spirochete Treponema pallidum. It is a sexually transmitted disorder, although it can also be transmitted from the mother to the fetus in utero. Typically, it is initially manifested with a single sore which heals without treatment. If the infection is left untreated, the initial stage is followed by skin rash and mucous membrane lesions. A late stage follows, which is characterized by damage of the internal organs, including the nervous system. tmpaxzxjjyw_mondo_relaxed.owl Treponema pallidum infectious disease|Treponema pallidum disease or disorder|syphilitic chancre|Treponema pallidum caused disease or disorder MedDRA:10062120|EFO:0007504|SCTID:76272004|ICD10:A51.0|MESH:D013587|ICD9:097.9|NCIT:C35055|MESH:D002601|DOID:4166 owl:Class HGNC:28086 biolink:NamedThing NDUFAF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:26190 biolink:NamedThing MTMR14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001798 biolink:NamedThing vitreous body tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011825 biolink:NamedThing loose connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011775 biolink:NamedThing vagus nerve nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000126 biolink:NamedThing cranial nerve nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005990 biolink:NamedThing tracheitis A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. tmpaxzxjjyw_mondo_relaxed.owl inflammation of tracheal mucosa|tracheal mucosa inflammation|chronic tracheitis|tracheal Inflammation|acute tracheitis MESH:D014136|UMLS:C0149513|ICD10:J04.1|SCTID:62994001|NCIT:C78643|DOID:9392|ICD9:464.1|EFO:0007518|UMLS:C0264322|UMLS:C0040584 MONDO:0020691 owl:Class MONDO:0020579 biolink:NamedThing mucositis Inflammation of the mucous membranes. tmpaxzxjjyw_mondo_relaxed.owl mucositis|mucosa inflammation|inflammation of mucosa NCIT:C115965 owl:Class UBERON:8420000 biolink:NamedThing hair of scalp tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001037 biolink:NamedThing strand of hair tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060631 biolink:NamedThing Alkuraya-Kucinskas syndrome tmpaxzxjjyw_mondo_relaxed.owl ALKKUCS|Alkuraya-Kucinskas syndrome OMIM:617822|UMLS:CN737163|DOID:0111555 owl:Class UBERON:0007324 biolink:NamedThing pancreatic lobule tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000730 biolink:NamedThing exposure to neurotoxin An exposure to neurotoxin. tmpaxzxjjyw_mondo_relaxed.owl exposure to neurotoxin owl:Class ECTO:0000485 biolink:NamedThing exposure to chemical with biological effect An exposure to biological role. tmpaxzxjjyw_mondo_relaxed.owl exposure to biological role owl:Class UBERON:0003368 biolink:NamedThing epithelium of hard palate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003235 biolink:NamedThing epithelium of upper jaw tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004539 biolink:NamedThing aortic malignant tumor A cancer that involves the aorta. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the aorta|malignant neoplasm of aorta|malignant aorta neoplasm|cancer of aorta|malignant aortic neoplasm|malignant tumor of the aorta|aortic malignant neoplasm|malignant tumor of aorta|aorta cancer NCIT:C5375|UMLS:C1334560|DOID:8352 owl:Class MONDO:0005561 biolink:NamedThing aortic disorder Pathology involving the thoracic, thoracoabdominal, or abdominal aorta (including aneurysms). (ACC) tmpaxzxjjyw_mondo_relaxed.owl aorta disease|disease of aorta|disorder of the aorta|disorder of aorta|aorta disease or disorder|aortic disorder|disease or disorder of aorta SCTID:47040006|DOID:520|MESH:D001018|UMLS:C0003493|ICD9:447.9|EFO:0005775|NCIT:C101253 owl:Class MONDO:0001381 biolink:NamedThing bladder lymphoma A lymphoma that involves the urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of urinary bladder|lymphoma of bladder|lymphoma of the urinary bladder|urinary bladder lymphoma|primary bladder lymphoma|lymphoma of the bladder DOID:11821|UMLS:C1332561|NCIT:C6164 owl:Class MONDO:0033371 biolink:NamedThing developmental and epileptic encephalopathy, 62 tmpaxzxjjyw_mondo_relaxed.owl DEE62|EIEE62|epileptic encephalopathy, early infantile, 62 DOID:0080420|OMIM:617938|UMLS:CN244551 owl:Class MONDO:0001036 biolink:NamedThing hypopyon An accumulation of pus in the anterior chamber of the eye. tmpaxzxjjyw_mondo_relaxed.owl DOID:10443|UMLS:C0020641|ICD10:H20.05|ICD9:364.05|SCTID:87807004|NCIT:C50593 owl:Class MONDO:0017210 biolink:NamedThing infectious anterior uveitis An infectious disease involving a pathogenic inflammatory response in the anterior uvea. tmpaxzxjjyw_mondo_relaxed.owl secondary infected iridocyclitis|infectious secondary iridocyclitis|secondary iridocyclitis, infectious ICD10:H20.9|ICD9:364.03|Orphanet:279922|ICD10:H20.03|ICD10:H20.2|ICD10:H20.0|DOID:9389|SCTID:193487008|ICD10:H20.1|ICD10:H20.8|UMLS:C0154911 owl:Class BFO:0000017 biolink:NamedThing realizable entity A specifically dependent continuant that inheres in continuant entities and are not exhibited in full at every time in which it inheres in an entity or group of entities. The exhibition or actualization of a realizable entity is a particular manifestation, functioning or process that occurs under certain circumstances. tmpaxzxjjyw_mondo_relaxed.owl RealizableEntity realizable To say that b is a realizable entity is to say that b is a specifically dependent continuant that inheres in some independent continuant which is not a spatial region and is of a type instances of which are realized in processes of a correlated type. (axiom label in BFO2 Reference: [058-002]) the role of this boundary to delineate where Utah and Colorado meet|the role of being a doctor|the disposition of your blood to coagulate|the disposition of this piece of metal to conduct electricity.|the function of your reproductive organs (forall (x t) (if (RealizableEntity x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (bearerOfAt y x t))))) // axiom label in BFO2 CLIF: [060-002] |(forall (x) (if (RealizableEntity x) (and (SpecificallyDependentContinuant x) (exists (y) (and (IndependentContinuant y) (not (SpatialRegion y)) (inheresIn x y)))))) // axiom label in BFO2 CLIF: [058-002] All realizable dependent continuants have independent continuants that are not spatial regions as their bearers. (axiom label in BFO2 Reference: [060-002]) owl:Class BFO:0000020 biolink:NamedThing specifically dependent continuant b is a relational specifically dependent continuant = Def. b is a specifically dependent continuant and there are n > 1 independent continuants c1, … cn which are not spatial regions are such that for all 1 i < j n, ci and cj share no common parts, are such that for each 1 i n, b s-depends_on ci at every time t during the course of b’s existence (axiom label in BFO2 Reference: [131-004])|b is a specifically dependent continuant = Def. b is a continuant & there is some independent continuant c which is not a spatial region and which is such that b s-depends_on c at every time t during the course of b’s existence. (axiom label in BFO2 Reference: [050-003])|A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. tmpaxzxjjyw_mondo_relaxed.owl SpecificallyDependentContinuant sdc Specifically dependent continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. We're not sure what else will develop here, but for example there are questions such as what are promises, obligation, etc. specifically dependent continuant the function of this heart: to pump blood|the pink color of a medium rare piece of grilled filet mignon at its center|the mutual dependence of the role predator and the role prey as played by two organisms in a given interaction|the disposition of this fish to decay|of relational dependent continuants (multiple bearers): John’s love for Mary, the ownership relation between John and this statue, the relation of authority between John and his subordinates.|the mutual dependence of proton donors and acceptors in chemical reactions [79|Reciprocal specifically dependent continuants: the function of this key to open this lock and the mutually dependent disposition of this lock: to be opened by this key|of one-sided specifically dependent continuants: the mass of this tomato|the smell of this portion of mozzarella|the role of being a doctor|the shape of this hole. (iff (RelationalSpecificallyDependentContinuant a) (and (SpecificallyDependentContinuant a) (forall (t) (exists (b c) (and (not (SpatialRegion b)) (not (SpatialRegion c)) (not (= b c)) (not (exists (d) (and (continuantPartOfAt d b t) (continuantPartOfAt d c t)))) (specificallyDependsOnAt a b t) (specificallyDependsOnAt a c t)))))) // axiom label in BFO2 CLIF: [131-004] |(iff (SpecificallyDependentContinuant a) (and (Continuant a) (forall (t) (if (existsAt a t) (exists (b) (and (IndependentContinuant b) (not (SpatialRegion b)) (specificallyDependsOnAt a b t))))))) // axiom label in BFO2 CLIF: [050-003] owl:Class MONDO:0003844 biolink:NamedThing central nervous system lipoma A rare benign adipose tissue neoplasm of the central nervous system frequently found in midline locations such as the corpus callosum, the quadrigeminal plate, the hypothalamus, the spinal canal or the cauda equina. Some contain Schwann cells, bone, cartilage or hamartomatous blood vessels. tmpaxzxjjyw_mondo_relaxed.owl CNS lipoma|lipoma of central nervous system|central nervous system lipoma|lipoma of the central nervous system|lipoma of the CNS|lipoma of CNS DOID:6293|NCIT:C5451|UMLS:C1332885 owl:Class MONDO:0000628 biolink:NamedThing central nervous system organ benign neoplasm A benign neoplasm that involves the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl central nervous system benign neoplasm DOID:0060090 owl:Class MONDO:0034121 biolink:NamedThing NAD(P)HX dehydratase deficiency tmpaxzxjjyw_mondo_relaxed.owl PEBEL2|ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 Orphanet:555402|OMIM:618321 owl:Class MONDO:0012797 biolink:NamedThing otosclerosis 8 tmpaxzxjjyw_mondo_relaxed.owl otosclerosis 8|OTSC8 UMLS:C2677515|MESH:C567421|OMIM:612096 owl:Class MONDO:0005349 biolink:NamedThing otosclerosis Formation of spongy bone in the labyrinth capsule which can progress toward the stapes (stapedial fixation) or anteriorly toward the cochlea leading to conductive, sensorineural, or mixed hearing loss. Several genes are associated with familial otosclerosis with varied clinical signs. tmpaxzxjjyw_mondo_relaxed.owl otosclerosis (disease)|otosclerosis otosclerosis (disease) ICD9:387.8|ICD10:H80.8|OMIMPS:166800|ICD9:387.9|OMIM:612096|ICD10:H80.80|HP:0000362|ICD9:387|OMIM:611571|OMIM:166800|OMIM:608244|UMLS:C0029899|DOID:12185|OMIM:605727|SCTID:11543004|MESH:D010040|OMIM:615589|Orphanet:2794|OMIM:611572|EFO:0004213|OMIM:608484 owl:Class GO:0051094 biolink:NamedThing positive regulation of developmental process Any process that activates or increases the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpaxzxjjyw_mondo_relaxed.owl up regulation of developmental process|upregulation of developmental process|stimulation of developmental process|activation of developmental process|up-regulation of developmental process owl:Class MONDO:0008151 biolink:NamedThing gnathodiaphyseal dysplasia Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission. tmpaxzxjjyw_mondo_relaxed.owl GNATHODIAPHYSEAL dysplasia|osteogenesis imperfecta Levin type|osteogenesis imperfecta with unusual skeletal lesions|Gnathodiaphyseal sclerosis|gnathodiaphyseal dysplasia|Levin syndrome 2|GDD Orphanet:53697|UMLS:C1833736|MESH:C536039|OMIM:166260|SCTID:715568002|DOID:0111533|GARD:0008698 owl:Class GO:0043122 biolink:NamedThing regulation of I-kappaB kinase/NF-kappaB signaling Any process that modulates I-kappaB kinase/NF-kappaB signaling. tmpaxzxjjyw_mondo_relaxed.owl regulation of I-kappaB kinase/NF-kappaB cascade owl:Class GO:1902531 biolink:NamedThing regulation of intracellular signal transduction Any process that modulates the frequency, rate or extent of intracellular signal transduction. tmpaxzxjjyw_mondo_relaxed.owl regulation of intracellular signaling cascade|regulation of signal transmission via intracellular cascade|regulation of intracellular signaling pathway|regulation of intracellular protein kinase cascade|regulation of intracellular signaling chain|regulation of signal transduction via intracellular signaling cascade|regulation of intracellular signal transduction pathway owl:Class PATO:0000141 biolink:NamedThing structure A morphology quality inhering in a bearer by virtue of the bearer's relative position, shape, arrangements and connectivity of an organism's various parts; the pattern underlying its form. tmpaxzxjjyw_mondo_relaxed.owl conformation|relational structural quality owl:Class PATO:0000051 biolink:NamedThing morphology A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901652 biolink:NamedThing response to peptide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901700 biolink:NamedThing response to oxygen-containing compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to oxygen molecular entity owl:Class GO:0042742 biolink:NamedThing defense response to bacterium Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. tmpaxzxjjyw_mondo_relaxed.owl defence response to bacteria|defense response to bacteria|defense response to bacterium, incompatible interaction|defence response to bacterium|resistance response to pathogenic bacterium|resistance response to pathogenic bacteria|antibacterial peptide activity owl:Class GO:0009617 biolink:NamedThing response to bacterium Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. tmpaxzxjjyw_mondo_relaxed.owl response to bacteria owl:Class MONDO:0013318 biolink:NamedThing early repolarization associated with ventricular fibrillation tmpaxzxjjyw_mondo_relaxed.owl early repolarization associated with ventricular fibrillation|early repolarization syndrome UMLS:C3150852|OMIM:613601 owl:Class CL:0009038 biolink:NamedThing colon macrophage A macrophage that is located in the colon. tmpaxzxjjyw_mondo_relaxed.owl macrophage of colon owl:Class CL:0000235 biolink:NamedThing macrophage A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. tmpaxzxjjyw_mondo_relaxed.owl histiocyte FMA:63261|FMA:83585|BTO:0000801|CALOHA:TS-0587 Morphology: Diameter 30_M-80 _M, abundant cytoplasm, low N/C ratio, eccentric nucleus. Irregular shape with pseudopods, highly adhesive. Contain vacuoles and phagosomes, may contain azurophilic granules; markers: Mouse & Human: CD68, in most cases CD11b. Mouse: in most cases F4/80+; role or process: immune, antigen presentation, & tissue remodelling; lineage: hematopoietic, myeloid. cell owl:Class GO:2000830 biolink:NamedThing positive regulation of parathyroid hormone secretion Any process that activates or increases the frequency, rate or extent of parathyroid hormone secretion. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of PTH secretion|positive regulation of parathormone secretion|positive regulation of parathyrin secretion owl:Class GO:0046887 biolink:NamedThing positive regulation of hormone secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a hormone from a cell. tmpaxzxjjyw_mondo_relaxed.owl stimulation of hormone secretion|activation of hormone secretion|upregulation of hormone secretion|up regulation of hormone secretion|up-regulation of hormone secretion owl:Class UBERON:0004242 biolink:NamedThing bronchus smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004233 biolink:NamedThing lower respiratory tract smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019355 biolink:NamedThing adult-onset Still disease A rare inflammatory multisystem disorder characterized clinically by fever of unknown origin, arthralgia or arthritis, hyperleucocytosis, and typical skin rash. tmpaxzxjjyw_mondo_relaxed.owl Wissler-Fanconi syndrome|adult onset Still's disease|AOSD|adult-onset Still disease|adult Still's disease|adult-onset Still's disease|Still's disease adult onset UMLS:C0085253|MESH:D016706|EFO:0007135|GARD:0000436|SCTID:239920006|ICD9:759.89|Orphanet:829|UMLS:CN206037|ICD10:M06.1|MedDRA:10064056|SCTID:68190001|DOID:14256|ICD9:714.2|MedDRA:10058493 https://rarediseases.info.nih.gov/diseases/436/adult-onset-stills-disease owl:Class MONDO:0005578 biolink:NamedThing arthritic joint disease An inflammatory process affecting a joint. Causes include infection, autoimmune processes, degenerative processes, and trauma. Signs and symptoms may include swelling around the affected joint and pain. tmpaxzxjjyw_mondo_relaxed.owl inflammatory disorder of joint|inflammation of skeletal joint|skeletal joint inflammation|arthritis Wikipedia:Arthritis|SCTID:3723001|MESH:D001168|DOID:848|ICD10:M19.90|EFO:0005856|UMLS:C0003864|NCIT:C2883 Editor note: osteoarthritis is primarily non-inflammatory which causes issues if we classify arthritis as inflammatory. owl:Class MONDO:0019651 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation tmpaxzxjjyw_mondo_relaxed.owl ICD10:N04.3|UMLS:CN206523|Orphanet:93209 owl:Class MONDO:0019067 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome Steroid-sensitive nephrotic syndrome (SSNS) is a kidney disease defined by selective proteinuria, hypoalbuminaemia and, on renal biopsy, minimal changes without immunoglobulin deposits. tmpaxzxjjyw_mondo_relaxed.owl OMIM:615861|Orphanet:69061|ICD10:N04.0 owl:Class UBERON:0004229 biolink:NamedThing urinary bladder trigone smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001135 biolink:NamedThing smooth muscle tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005557 biolink:NamedThing calcium metabolic disease Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. tmpaxzxjjyw_mondo_relaxed.owl calcium metabolism disease|disorder of calcium metabolism|calcium metabolism disorder SCTID:71638002|UMLS:C0006705|SCTID_2010_1_31:190874007|EFO:0005769|DOID:10575|MESH:D002128|SCTID_2010_1_31:267442002|ICD10:E83.5|ICD9:275.40|SCTID_2010_1_31:190863003|SCTID_2010_1_31:71638002|ICD9:275.49|ICD10:E83.50|ICD9:275.4 Defined in terms of GO calcium ion homeostatis. Also consistent with HPO. Note advice from GO as calcium ions are neither created or destroyed is not metabolic process in terms of go, but name retained for purposes of consistency with e.g. Snomed and Mesh, Consider relocating this as a sibling of metabolic disease. owl:Class MONDO:0000226 biolink:NamedThing mineral metabolism disease tmpaxzxjjyw_mondo_relaxed.owl disorder of mineral metabolism|disease of mineral metabolism SCTID:45744005|ICD9:275.8|ICD10:E83|ICD9:275.9 owl:Class UBERON:0000168 biolink:NamedThing proximal-distal subdivision of colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004921 biolink:NamedThing subdivision of digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003948 biolink:NamedThing cerebral hemangioma A hemangioma arising from the cerebral hemisphere. tmpaxzxjjyw_mondo_relaxed.owl angioma of cerebral hemispheres|telencephalon hemangioma|angioma of cerebrum|cerebral hemangioma|angioma of the cerebrum|hemangioma of telencephalon|hemangioma of cerebrum|hemangioma of the cerebrum|hemangioma of cerebral hemispheres|cerebral angioma|cerebral hemispheric hemangioma|angioma of the cerebral hemispheres|cerebral hemispheric angioma|hemangioma of the cerebral hemispheres UMLS:C0877388|NCIT:C5433|DOID:6621 owl:Class MONDO:0006500 biolink:NamedThing hemangioma A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels. tmpaxzxjjyw_mondo_relaxed.owl hemangioma|hemangioma, benign|benign hemangioma|angioma|benign angioma ICD10:D18.0|ICD9:228.0|ICD9:228.09|DOID:255|ONCOTREE:HEMA|UMLS:C0018916|ICDO:9120/0|HP:0001028|EFO:1000635|NCIT:C3085|ICD10:D18.00|ICD9:228.00|MESH:D006391|SCTID:400210000|GARD:0010759 owl:Class MONDO:0007303 biolink:NamedThing cervical rib disease A rib that is attached to a cervical vertebra or enlarged transverse processes. tmpaxzxjjyw_mondo_relaxed.owl cervical rib|cervical rib syndrome HP:0000891|OMIM:117900|MedDRA:10008301|MESH:D002573|EFO:1000861|SCTID:72535009|ICD9:756.2|NCIT:C158329 About 1 in 200 people are born with an extra rib called a cervical rib. About 1 in 10 people who have a cervical rib develop thoracic outlet syndrome. https://github.com/monarch-initiative/monarch-disease-ontology/issues/405 owl:Class MONDO:0005381 biolink:NamedThing bone disorder Diseases of bones. tmpaxzxjjyw_mondo_relaxed.owl disorder of bone element|skeletal disease|rare bone disease related to a common gene or pathway defect|disease of bone element|bone element disease|disease or disorder of bone element|bone element disease or disorder EFO:0004260|DOID:0080001|UMLS:CN204768|ICD10:M89.9|UMLS:C0005940|ICD9:733.99|ICD9:731.8|MESH:D001847|SCTID:76069003 owl:Class MONDO:0044937 biolink:NamedThing rectal carcinoma A malignant epithelial neoplasm that arises from the rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. tmpaxzxjjyw_mondo_relaxed.owl rectal carcinoma|cancer of rectum|rectal cancer|cancer of the rectum|carcinoma of the rectum|carcinoma of rectum|rectum carcinoma NCIT:C9382 owl:Class MONDO:0024331 biolink:NamedThing colorectal carcinoma A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. tmpaxzxjjyw_mondo_relaxed.owl colorectal carcinoma|CRC|carcinoma of the large intestine|cancer of the large bowel|colorectal (colon or rectal) cancer|carcinoma of the large bowel|large bowel carcinoma|large intestine carcinoma|large intestine cancer|carcinoma of large bowel|cancer of large bowel|colorectal cancer|cancer of large intestine|cancer of the large intestine|carcinoma of colorectum|colorectum carcinoma|carcinoma of large intestine|large bowel cancer DOID:0080199|NCIT:C2955|UMLS:CN221574 owl:Class MONDO:0033481 biolink:NamedThing spinocerebellar ataxia 46 tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia 46|SCA46|spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy Orphanet:589522|DOID:0080288|OMIM:617770|UMLS:CN623018 owl:Class GO:0019855 biolink:NamedThing calcium channel inhibitor activity Binds to and stops, prevents, or reduces the activity of a calcium channel. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008200 biolink:NamedThing ion channel inhibitor activity Binds to and stops, prevents, or reduces the activity of an ion channel. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010426 biolink:NamedThing oropharyngeal choana tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010425 biolink:NamedThing internal naris tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010767 biolink:NamedThing spermatogenic failure, Y-linked, 2 tmpaxzxjjyw_mondo_relaxed.owl SPGFY2|azoospermia, nonobstructive, Y-linked|spermatogenic failure, Y-linked, type 2|spermatogenic arrest, Y-linked|azoospermia Factor regions|spermatogenic failure, Y-linked, 2|oligospermia, nonobstructive, Y-linked|spermatogenic failure, nonobstructive, Y-linked|oligozoospermia, nonobstructive, Y-linked|Azf regions MESH:C564030|DOID:0070187|OMIM:415000|Orphanet:1646 owl:Class MONDO:0015607 biolink:NamedThing partial chromosome Y deletion Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome Y|partial deletion of the long arm of the Y chromosome|Male sterility due to chromosome Y deletion|partial deletion of Y chromosome short arm|partial deletion of Y|Y-chromosome microdeletions OMIM:415000|OMIM:400042|GARD:0004230|SCTID:717158001|MESH:C536297|Orphanet:1646|ICD10:Q98.6|HGNC:11311 owl:Class MONDO:0008018 biolink:NamedThing Muir-Torre syndrome Muir-Torre syndrome (MTS) is a form of hereditary nonpolyposis colon cancer (HNPCC) characterized by cutaneous sebaceous tumors, keratoacanthomas and at least one visceral malignancy, most frequently gastrointestinal carcinoma. tmpaxzxjjyw_mondo_relaxed.owl Muir-Torre syndrome|cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas|cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas|multiple keratoacanthoma, Muir-Torre type|MRTES|MUIR-Torre syndrome GARD:0006821|MedDRA:10063042|ICD10:L72.8|Orphanet:587|NCIT:C84905|SCTID:403824007|MESH:D055653|DOID:0050465|OMIM:158320|UMLS:C1321489 owl:Class MONDO:0016759 biolink:NamedThing pontocerebellar hypoplasia type 2 Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty. tmpaxzxjjyw_mondo_relaxed.owl PCH2|progressive microcephaly from birth extrapyramidal dyskinesia chorea epilepsy Orphanet:2524|ICD10:Q04.3|SCTID:715463008|GARD:0010705|OMIM:612390|OMIM:612389|OMIM:613811|MESH:C548070|UMLS:C2932714|NCIT:C124057|OMIM:277470|OMIM:617026 https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2 owl:Class MONDO:0024257 biolink:NamedThing hereditary motor neuron disease An instance of motor neuron disease that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic motor neuron disease|hereditary motor neuron disease|genetic anterior horn cell disease SCTID:49793008|Orphanet:98505|UMLS:CN207018 owl:Class MONDO:0008294 biolink:NamedThing acute intermittent porphyria Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. tmpaxzxjjyw_mondo_relaxed.owl UPS deficiency|porphyria, Chester type|pyrroloporphyria|uroporphyrinogen synthase deficiency|porphyria, Swedish type|porphyria, acute intermittent|acute intermittent porphyria|porphyria intermittent acute|HMBS deficiency|porphyria, acute intermittent, Nonerythroid variant|AIP - acute intermittent porphyria|PBGD deficiency|porphobilinogen deaminase deficiency|AIP|hydroxymethylbilane synthase deficiency SCTID:234422006|NCIT:C84536|MESH:D017118|UMLS:C0162565|OMIM:176000|Orphanet:79276|ICD10:E80.2|DOID:3890|GARD:0005732 owl:Class MONDO:0004367 biolink:NamedThing petroclival meningioma A meningioma that affects the petroclival region. tmpaxzxjjyw_mondo_relaxed.owl DOID:7818|UMLS:C1335395|NCIT:C5278 owl:Class MONDO:0002998 biolink:NamedThing skull base meningioma A meningioma that arises from the skull base. tmpaxzxjjyw_mondo_relaxed.owl meningioma (disease) of basicranium|meningioma of the skull base|basicranium meningioma (disease)|meningioma of skull base|skull base meningioma NCIT:C5272|UMLS:C1335976|DOID:4437 owl:Class MONDO:0014195 biolink:NamedThing microcornea-myopic chorioretinal atrophy tmpaxzxjjyw_mondo_relaxed.owl microcornea-myopic chorioretinal atrophy|microcornea-myopic chorioretinal atrophy-telecanthus syndrome|MMCAT|MMCAT syndrome|microcornea, myopic chorioretinal atrophy, and telecanthus Orphanet:369970|OMIM:615458|ICD10:Q15.8|UMLS:C3809567 owl:Class MONDO:0020145 biolink:NamedThing developmental defect of the eye tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98553 owl:Class MONDO:0007363 biolink:NamedThing congenital contractural arachnodactyly Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl contractural arachnodactyly, congenital|DA9|Beals syndrome|distal arthrogryposis type 9|CCA|contractures, multiple with arachnodactyly|Beals-Hecht syndrome|arachnodactyly, contractural Beals type|CCA syndrome|Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis|arthrogryposis, distal, type 9 OMIM:121050|ICD10:Q68.8|SCTID:205821003|UMLS:C0220668|NCIT:C129865|Orphanet:115|DOID:0111595|ICD9:759.89|MESH:C536211|GARD:0005899 owl:Class MONDO:0020804 biolink:NamedThing basal cell carcinoma A carcinoma involving the basal cells. tmpaxzxjjyw_mondo_relaxed.owl epithelioma, basal cell|malignant basal cell neoplasm|basal cell cancer MESH:D002280|NCIT:C7586|NCIT:C156767 owl:Class MONDO:0020799 biolink:NamedThing basal cell neoplasm A neoplastic proliferation of basal cells in the epidermis (part of the skin) or other anatomic sites (most frequently the salivary glands). The basal cell neoplastic proliferation in the epidermis results in basal cell carcinomas. The basal cell neoplastic proliferation in the salivary glands can be benign, resulting in basal cell adenomas or malignant, resulting in basal cell adenocarcinomas. tmpaxzxjjyw_mondo_relaxed.owl neoplasm, basal cell|basal cell tumor ICDO:8090/1|SCTID:127570002|NCIT:C3784|MESH:D018295 owl:Class MONDO:0003401 biolink:NamedThing central nervous system endodermal sinus tumor A yolk sac tumor that arises from the central nervous system and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl central nervous system yolk sac tumor|childhood central nervous system endodermal sinus neoplasm|central nervous system yolk Sac tumor|pediatric central nervous system yolk Sac tumor|pediatric central nervous system yolk Sac neoplasm|childhood central nervous system yolk Sac tumor|pediatric central nervous system endodermal sinus neoplasm|childhood central nervous system yolk Sac neoplasm|central nervous system endodermal sinus tumor|yolk Sac tumor of the CNS|childhood central nervous system endodermal sinus tumor NCIT:C7011|NCIT:C6209|DOID:5343 owl:Class MONDO:0003750 biolink:NamedThing childhood central nervous system germ cell tumor A germ cell tumor of the central nervous system occurring in children. tmpaxzxjjyw_mondo_relaxed.owl childhood germ cell neoplasm of CNS|pediatric central nervous system germ cell tumor|childhood germ cell tumor of CNS|central nervous system germ cell tumor|pediatric germ cell neoplasm of CNS|childhood germ cell tumor of the CNS|pediatric germ cell tumor of CNS|childhood germ cell neoplasm of the central nervous system|childhood germ cell tumor of the central nervous system|pediatric germ cell neoplasm of the CNS|childhood CNS germ cell neoplasm|childhood germ cell tumor of central nervous system|central nervous system pediatric germ cell cancer|pediatric central nervous system germ cell neoplasm|pediatric CNS germ cell neoplasm|childhood germ cell neoplasm of central nervous system|childhood germ cell neoplasm of the CNS|childhood central nervous system germ cell tumor|pediatric germ cell tumor of the CNS|central nervous system childhood germ cell tumor|pediatric germ cell tumor of central nervous system|pediatric germ cell neoplasm of the central nervous system|pediatric CNS germ cell tumor|childhood central nervous system germ cell neoplasm|pediatric germ cell tumor of the central nervous system|pediatric germ cell neoplasm of central nervous system|childhood CNS germ cell tumor DOID:6052|UMLS:C0278754|NCIT:C6205 owl:Class MONDO:0001128 biolink:NamedThing nasal cavity cancer A malignant neoplasm involving the nasal cavity tmpaxzxjjyw_mondo_relaxed.owl malignant nasal cavity neoplasm|malignant neoplasm of nasal cavity|malignant neoplasm of the nasal cavity|malignant tumor of the nasal cavity|malignant tumor of nasal cavity|malignant neoplasm of nasal cavities|nasal cavity cancer|cancer of nasal cavity|malignant nasal cavity tumor UMLS:C0728864|ICD9:160.0|ICD10:C30.0|DOID:10811|NCIT:C4918|SCTID:363422006 owl:Class MONDO:0012535 biolink:NamedThing holoprosencephaly, recurrent infections, and monocytosis tmpaxzxjjyw_mondo_relaxed.owl holoprosencephaly, recurrent infections, and monocytosis UMLS:C1853187|MESH:C538328|GARD:0010055|OMIM:610680 https://rarediseases.info.nih.gov/diseases/10055/holoprosencephaly-recurrent-infections-and-monocytosis owl:Class HGNC:16400 biolink:NamedThing NLRP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010680 biolink:NamedThing pedal digit 1 phalanx cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015031 biolink:NamedThing pedal digit 1 phalanx endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007283 biolink:NamedThing cataract 42 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA2 gene. tmpaxzxjjyw_mondo_relaxed.owl CTRCT42|early-onset non-syndromic cataract caused by mutation in CRYBA2|A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35.|CRYBA2 early-onset non-syndromic cataract|cataract 42|cataract type 42 OMIM:115900|Orphanet:91492|ICD10:Q12.0|UMLS:C4011454|DOID:0110237 Not in the OMIM series. owl:Class MONDO:0011060 biolink:NamedThing early-onset non-syndromic cataract Early-onset non-syndromic cataract is a rare, genetic, non-syndromic developmental defect of the eye, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected. tmpaxzxjjyw_mondo_relaxed.owl cataract, age-related nuclear|nuclear sclerosis of the lens Orphanet:98991|OMIM:616851|OMIM:614691|OMIM:604219|OMIM:116800|OMIM:116300|OMIM:115700|OMIM:605749|OMIM:600881|OMIM:116100|OMIM:601202|Orphanet:91492|OMIM:115665|OMIM:601547|ICD10:Q12.0|OMIM:615274|OMIM:613763|OMIM:116700|OMIM:609376|UMLS:C1832423|OMIM:601371|OMIM:610425|OMIM:212500|OMIM:116200|OMIM:611391|OMIM:614422|OMIM:616509|OMIM:116400|OMIM:615277|OMIM:604307|OMIM:612968|OMIM:616279|OMIM:607304|OMIM:611597|OMIM:601885|OMIM:302200|OMIM:610019|OMIM:115660|OMIM:611544|OMIM:115800|OMIM:605387|OMIM:115650|OMIM:610623|OMIM:115900|OMIM:605728|OMIM:610202|OMIM:116600|OMIM:609741|OMIM:615188 Not in the OMIM series. owl:Class MONDO:0016224 biolink:NamedThing autosomal dominant proximal spinal muscular atrophy Autosomal dominant form of proximal spinal muscular atrophy. tmpaxzxjjyw_mondo_relaxed.owl proximal spinal muscular atrophy, autosomal dominant UMLS:CN229044|ICD10:G12.1|Orphanet:211037 owl:Class MONDO:0019079 biolink:NamedThing proximal spinal muscular atrophy Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpaxzxjjyw_mondo_relaxed.owl SMA ICD10:G12.0|OMIM:271150|GARD:0004531|UMLS:C4024957|UMLS:CN205570|ICD10:G12.1|OMIM:253550|EFO:0008929|OMIM:253400|OMIM:253300|Orphanet:70 https://rarediseases.info.nih.gov/diseases/4531/proximal-spinal-muscular-atrophy owl:Class NCBITaxon:34353 biolink:NamedThing Dipodascaceae tmpaxzxjjyw_mondo_relaxed.owl anamorphic Dipodascaceae GC_ID:1 NCBITaxon:118261 ncbi_taxonomy owl:Class NCBITaxon:4892 biolink:NamedThing Saccharomycetales tmpaxzxjjyw_mondo_relaxed.owl Endomycetales|budding yeasts GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005011 biolink:NamedThing mucosa of right uterine tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000344 biolink:NamedThing mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010621 biolink:NamedThing CHILD syndrome CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. tmpaxzxjjyw_mondo_relaxed.owl child syndrome|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|congenital hemidysplasia with ichthyosiform nevus and limbs defects|CHILD syndrome|congenital hemidysplasia with ichthyosiform nevus and limb defects|ichthyosis, child syndrome|congenital hemidysplasia with ichthyosiform erythroderma and limb defects|child nevus MESH:C562515|GARD:0006039|UMLS:C0265267|ICD9:759.89|OMIM:308050|SCTID:17608003|Orphanet:139|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/6039/child-syndrome owl:Class MONDO:0000631 biolink:NamedThing bone benign neoplasm A neoplasm that arises from the bone or articular cartilage and does not invade adjacent tissues or metastasize to other anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of the bone|benign tumor of bone|benign neoplasm of the bone|benign bone tumor|benign bone neoplasm|benign osseous tumor|benign osseous neoplasm|benign neoplasm of bone|bone tissue benign neoplasm DOID:0060094|SCTID:92027006|ICD9:213.9|NCIT:C4880 owl:Class MONDO:0013805 biolink:NamedThing intellectual disability, autosomal dominant 13 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal dominant 13|autosomal dominant mental retardation 13|autosomal dominant intellectual disability 13|DYNC1H1 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 13|autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1|mental retardation, autosomal dominant, 13, with neuronal migration defects|MRD13|intellectual disability, autosomal dominant 13, with neuronal migration defects|autosomal dominant non-syndromic intellectual disability 13|mental retardation, autosomal dominant type 13|mental retardation, autosomal dominant 13|intellectual disability, autosomal dominant, 13, with neuronal migration defects|mental retardation, autosomal dominant 13, with neuronal migration defects Orphanet:178469|DOID:0070043|UMLS:C3281202|OMIM:614563 owl:Class MONDO:0100172 biolink:NamedThing intellectual disability, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal dominant|autosomal dominant intellectual disability OMIM:614256|OMIM:612580|OMIM:614255|OMIM:616579|OMIMPS:156200|OMIM:614257|OMIM:614254|OMIM:616393|OMIM:616521|OMIM:612581|OMIM:614563|OMIM:156200|OMIM:612621|OMIM:614113|OMIM:615828|OMIM:613970 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0045988 biolink:NamedThing negative regulation of striated muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle contraction. tmpaxzxjjyw_mondo_relaxed.owl downregulation of striated muscle contraction|inhibition of striated muscle contraction|down-regulation of striated muscle contraction|down regulation of striated muscle contraction owl:Class GO:0006942 biolink:NamedThing regulation of striated muscle contraction Any process that modulates the frequency, rate or extent of striated muscle contraction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014414 biolink:NamedThing STAT3-related early-onset multisystem autoimmune disease tmpaxzxjjyw_mondo_relaxed.owl ADMIO|autoimmune disease, multisystem, infantile-onset, 1|ADMIO1|autoimmune disease, multisystem, infantile-onset UMLS:C4014795|OMIM:615952|Orphanet:438159|ICD10:M35.8 owl:Class MONDO:0000213 biolink:NamedThing autoimmune disease, multisystem, infantile-onset tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:615952|UMLS:CN238808 owl:Class MONDO:0009414 biolink:NamedThing glycogen storage disorder due to hepatic glycogen synthase deficiency Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, is a genetically inherited anomaly of glycogen metabolism and a form of GSD characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves. tmpaxzxjjyw_mondo_relaxed.owl glycogenosis type 0a|glycogen storage disease due to hepatic glycogen synthase deficiency|glycogen storage disease type 0|GSD type 0a|liver glycogen synthase deficiency|glycogen storage disease 0, liver|glycogen storage disease type 0a|glycogen synthase deficiency|GSD due to hepatic glycogen synthase deficiency|glycogen storage disease due to liver glycogen synthase deficiency|liver glycogen storage disease 0|glycogen storage disease due to glycogen synthase deficiency of liver|GSD 0A|liver glycogen storage disease due to glycogen synthase deficiency|hypoglycemia with deficiency of glycogen synthetase in the liver|liver GSD 0|glycogen storage disease type 0, liver|hepatic glycogen synthase deficiency|GSD0A Orphanet:2089|UMLS:C1855861|SCTID:237964009|GARD:0002513|UMLS:C0342748|MESH:C565485|GARD:0002889|OMIM:240600|ICD10:E74.0 owl:Class MONDO:0002412 biolink:NamedThing glycogen storage disease An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues. tmpaxzxjjyw_mondo_relaxed.owl glycogenosis|glycogen storage disease|glycogenoses|glycogen storage disorder|inborn error of glycogen metabolic process|rare inborn error of glycogen metabolic process|inborn glycogen storage disorder|inborn glycogen metabolic process disorder|glycogen metabolism disorder|GSD UMLS:C0017919|NCIT:C61272|DOID:2747|Orphanet:79201|DOID:0050728|ICD9:271.0|ICD10:E74.00|MESH:D006008|MedDRA:10061990|ICD10:E74.0|SCTID:29633007 owl:Class MONDO:0004053 biolink:NamedThing bartholin gland squamous cell carcinoma A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant squamous epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl Bartholin's gland squamous cell carcinoma|bartholin gland squamous cell carcinoma|major vestibular gland squamous cell carcinoma UMLS:C1511052|EFO:1000104|NCIT:C40293|DOID:6961 owl:Class MONDO:0005096 biolink:NamedThing squamous cell carcinoma A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma (morphologic abnormality)|epidermoid carcinoma|squamous cell carcinoma|carcinoma, squamous cell, malignant|malignant epidermoid cell neoplasm|squamous cell cancer|squamous cell epithelioma|epidermoid cell cancer|malignant squamous cell tumor|squamous carcinoma|malignant epidermoid cell tumor|squamous cell carcinoma NOS (morphologic abnormality)|malignant squamous cell neoplasm UMLS:C0007137|MESH:D018307|ICDO:8070/3|SCTID:402815007|GARD:0001091|DOID:1749|MESH:D002294|NCIT:C2929|EFO:0000707 owl:Class MONDO:0010237 biolink:NamedThing X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, with craniofacial dysmorphism|mental retardation, X-linked Hyde-Forster type|intellectual disability, X-linked, with craniofacial dysmorphism|mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features|Hyde Forster McCarthy Berry syndrome|Hyde Forster-McCarthy-Berry syndrome|plagiocephaly and X-linked intellectual disability|mental retardation, X-linked, Hyde-Forster type|plagiocephaly and X-linked mental retardation|intellectual disability, X-linked Hyde-Forster type|intellectual disability, X-linked, Hyde-Forster type|intellectual disability, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features GARD:0004377|SCTID:719812008|UMLS:C2931516|GARD:0002765|OMIM:300064|Orphanet:2898|ICD10:Q87.0|MESH:C537512 owl:Class MONDO:0019587 biolink:NamedThing autosomal dominant nonsyndromic hearing loss Autosomal dominant form of nonsyndromic deafness. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant isolated deafness|nonsyndromic deafness, autosomal dominant|autosomal dominant nonsyndromic genetic deafness|autosomal dominant isolated sensorineural deafness type DFNA|autosomal dominant non-syndromic sensorineural deafness type DFNA|deafness, autosomal dominant|autosomal dominant nonsyndromic deafness|nonsyndromic genetic deafness, autosomal dominant|autosomal dominant isolated neurosensory deafness type DFNA|autosomal dominant nonsyndromic hearing loss and deafness|autosomal dominant deafness|autosomal dominant non-syndromic sensorineural hearing loss type DFNA|autosomal dominant nonsyndromic hearing impairment|autosomal dominant isolated neurosensory hearing loss type DFNA|autosomal dominant non-syndromic neurosensory hearing loss type DFNA|autosomal dominant isolated sensorineural hearing loss type DFNA|autosomal dominant non-syndromic neurosensory deafness type DFNA OMIM:603964|OMIM:616707|OMIM:606282|OMIM:601317|OMIM:615649|UMLS:CN043649|OMIM:601316|OMIM:603622|OMIM:608645|OMIM:608652|OMIM:616357|OMIM:601868|OMIM:613074|OMIM:614211|OMIM:613558|OMIM:606705|OMIM:616697|OMIM:612642|OMIM:607197|OMIM:605583|OMIM:601543|OMIM:602459|OMIM:612643|OMIM:124900|OMIM:616044|OMIM:609965|OMIM:615654|OMIM:615629|OMIM:608224|OMIM:600965|OMIM:600994|OMIMPS:124900|OMIM:612431|OMIM:607683|OMIM:600101|ICD10:H90.3|OMIM:605192|OMIM:606012|OMIM:608641|OMIM:601544|OMIM:612644|OMIM:606346|OMIM:616340|OMIM:607453|OMIM:616968|OMIM:601412|OMIM:607017|Orphanet:90635|OMIM:600652|OMIM:614152|OMIM:607841|OMIM:614614|OMIM:616969|OMIM:604717|OMIM:606451|DOID:0050564|OMIM:608394|OMIM:608372|OMIM:609129|OMIM:601369 owl:Class MONDO:0019497 biolink:NamedThing nonsyndromic genetic hearing loss A disease characterized by hearing loss that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl familial deafness|nonsyndromic hearing loss|nonsyndromic genetic deafness|isolated genetic deafness|nonsyndromic hereditary hearing loss|nonsyndromic deafness|non-syndromic genetic deafness MESH:C580334|GARD:0006410|UMLS:CN043648|DOID:0050563|Orphanet:87884|ICD10:H90.5|EFO:0009076 https://rarediseases.info.nih.gov/diseases/6410/familial-deafness|https://github.com/monarch-initiative/mondo/issues/551 owl:Class UBERON:0004378 biolink:NamedThing proximal metaphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001438 biolink:NamedThing metaphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100076 biolink:NamedThing juvenile idiopathic scoliosis A scoliosis with no known cause arising in a juvenile. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:459696 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0000726 biolink:NamedThing idiopathic scoliosis A scoliosis with no known cause. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN241052|OMIM:612239|DOID:0060250|SCTID:203639008|OMIM:181800|OMIM:607354|OMIM:612238|OMIM:608765 owl:Class GO:0045828 biolink:NamedThing positive regulation of isoprenoid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of isoprenoid metabolic process|stimulation of isoprenoid metabolic process|up regulation of isoprenoid metabolic process|activation of isoprenoid metabolic process|upregulation of isoprenoid metabolic process|positive regulation of isoprenoid metabolism owl:Class GO:0045834 biolink:NamedThing positive regulation of lipid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving lipids. tmpaxzxjjyw_mondo_relaxed.owl stimulation of lipid metabolic process|activation of lipid metabolic process|positive regulation of lipid metabolism|up-regulation of lipid metabolic process|upregulation of lipid metabolic process|up regulation of lipid metabolic process owl:Class GO:0048242 biolink:NamedThing epinephrine secretion The regulated release of epinephrine by a cell. Epinephrine is a catecholamine hormone secreted by the adrenal medulla and a neurotransmitter, released by certain neurons and active in the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl adrenaline secretion owl:Class GO:0050432 biolink:NamedThing catecholamine secretion The regulated release of catecholamines by a cell. The catecholamines are a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006230 biolink:NamedThing gastric squamous cell carcinoma A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body. tmpaxzxjjyw_mondo_relaxed.owl stomach squamous cell carcinoma|squamous cell carcinoma of stomach|gastric (stomach) squamous cell cancer|gastric squamous cell carcinoma|squamous cell carcinoma of the stomach EFO:1000278|DOID:5516|SCTID:766980008|ICD10:C16.1|UMLS:CN237470|UMLS:C1333789|ICD10:C16.8|ICD10:C16.5|Orphanet:418959|ICD10:C16.4|ICD10:C16.3|NCIT:C5475|ICD10:C16.0|ICD10:C16.2 owl:Class MONDO:0004950 biolink:NamedThing gastric carcinoma A carcinoma that arises from epithelial cells of the stomach. tmpaxzxjjyw_mondo_relaxed.owl cancer of the stomach|gastric cancer|stomach cancer|malignant neoplasm of fundus of stomach|malignant tumor of fundus of stomach|gastric carcinoma|carcinoma of stomach|cancer of fundus of stomach|gastric fundus cancer|carcinoma of the stomach|Ca fundus - stomach|gastric cancer, NOS|fundus of stomach cancer|malignant fundus of stomach neoplasm|cancer of stomach|stomach carcinoma|gastric (stomach) cancer DOID:5517|EFO:0000178|UMLS:C0699791|ICD10:C16.1|OMIM:613659|ICD9:230.2|DOID:10538|NCIT:C4911|ICD9:151.3|UMLS:C0153420|SCTID:187741001 owl:Class MONDO:0024346 biolink:NamedThing pityriasis amiantacea tmpaxzxjjyw_mondo_relaxed.owl tinea amiantacea|pityriasis amiantacea ICD9:696.5|SCTID:238924007|UMLS:C0343100 owl:Class MONDO:0006547 biolink:NamedThing exanthem Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color, itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful. tmpaxzxjjyw_mondo_relaxed.owl Rash|exanthem|exanthem (disease)|cutaneous eruption|skin Rash|skin eruption|exanthema exanthem (disease) NCIT:C111884|MESH:D005076|EFO:1000697|DOID:0050486|Wikipedia:Exanthem|SCTID:271807003|ICD10:R21|NCIT:C39594|HP:0000988|ICD9:782.1 owl:Class UBERON:0010258 biolink:NamedThing mesenchyme from rhombencephalic neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014387 biolink:NamedThing mesenchyme derived from neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003541 biolink:NamedThing left lung terminal bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003539 biolink:NamedThing left lung bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:5653 biolink:NamedThing Kinetoplastea tmpaxzxjjyw_mondo_relaxed.owl kinetoplastids|Protomonadida|Kinetoplastida|kinetoplasts GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33682 biolink:NamedThing Euglenozoa tmpaxzxjjyw_mondo_relaxed.owl Euglenozoans GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006616 biolink:NamedThing right external ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001691 biolink:NamedThing external ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045827 biolink:NamedThing negative regulation of isoprenoid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving isoprenoid. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of isoprenoid metabolic process|down regulation of isoprenoid metabolic process|downregulation of isoprenoid metabolic process|inhibition of isoprenoid metabolic process|negative regulation of isoprenoid metabolism owl:Class GO:0045833 biolink:NamedThing negative regulation of lipid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipids. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of lipid metabolism|down-regulation of lipid metabolic process|downregulation of lipid metabolic process|down regulation of lipid metabolic process|inhibition of lipid metabolic process owl:Class HGNC:11019 biolink:NamedThing SLC34A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003558 biolink:NamedThing adenosquamous prostate carcinoma An infrequent invasive carcinoma of the prostate gland characterized by the presence of both glandular and squamous neoplastic components. It is more often located in the transitional zone of the prostate gland and it tends to rapidly metastasize to the bones. tmpaxzxjjyw_mondo_relaxed.owl adenosquamous carcinoma of prostate|adenosquamous carcinoma of the prostate|prostate adenosquamous carcinoma|prostate gland adenosquamous carcinoma UMLS:C1335503|DOID:5634|NCIT:C5538 owl:Class MONDO:0006074 biolink:NamedThing adenosquamous carcinoma A carcinoma composed of malignant glandular cells and malignant squamous cells. tmpaxzxjjyw_mondo_relaxed.owl adenosquamous carcinoma|adenosquamous cell carcinoma|adenosquamous carcinoma (morphologic abnormality)|mixed adenocarcinoma and epidermoid carcinoma|mixed adenocarcinoma and epidermoid cell carcinoma|mixed adenocarcinoma and squamous carcinoma|mixed adenocarcinoma and squamous cell carcinoma|carcinoma, adenosquamous, malignant UMLS:C0206623|EFO:1000073|ICDO:8560/3|MESH:D018196|DOID:4830|SCTID:403902008|NCIT:C3727 owl:Class MONDO:0008964 biolink:NamedThing congenital secretory chloride diarrhea 1 Any secretory diarrhea in which the cause of the disease is a mutation in the SLC26A3 gene. tmpaxzxjjyw_mondo_relaxed.owl SLC26A3 secretory diarrhea|DIAR1|CLD|congenital chloride diarrhea|congenital secretory chloride diarrhea type 1|Chloridorrhea, congenital|diarrhea 1, secretory chloride, congenital|secretory diarrhea caused by mutation in SLC26A3|congenital chloride diarrhea Finnish type|chloride diarrhea, congenital, Finnish type|Darrow-gamble disease|familial chloride diarrhea|congenital chloridorrhea ICD10:P78.3|GARD:0010001|DOID:0060296|SCTID:24412005|Orphanet:53689|OMIM:214700|MESH:C536210|ICD9:579.8 owl:Class MONDO:0045032 biolink:NamedThing congenital secretory diarrhea tmpaxzxjjyw_mondo_relaxed.owl congenital secretory diarrhea ICD9:579.8|UMLS:C0267661|SCTID:25898005 owl:Class MONDO:0006922 biolink:NamedThing Anaplasmataceae infectious disease Infections with bacteria of the family anaplasmataceae. tmpaxzxjjyw_mondo_relaxed.owl Haemobartonellosis|Anaplasmataceae caused disease or disorder|Anaplasmataceae disease or disorder|Anaplasmataceae infection|infection, Anaplasmataceae|infections, Anaplasmataceae|Haemobartonelloses MESH:D000711|SCTID:422167001|EFO:1001123 owl:Class MONDO:0010010 biolink:NamedThing Schinzel-Giedion syndrome Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies. tmpaxzxjjyw_mondo_relaxed.owl Schinzel-Giedion midface retraction syndrome|Schinzel Giedion syndrome|Schinzel Giedion midface-retraction syndrome|Schinzel-Giedion syndrome|Schinzel-Giedion midface-retraction syndrome|Sgs|SGS NCIT:C129308|ICD10:Q87.0|MESH:C536632|UMLS:C0265227|MedDRA:10063540|OMIM:269150|Orphanet:798|ICD9:759.89|GARD:0000117|SCTID:18899000 owl:Class MONDO:0043007 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome An instance of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic MCA/variable MR|hereditary multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome|genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome Orphanet:330197 owl:Class ECTO:9001655 biolink:NamedThing exposure to cofactor An exposure to cofactor. tmpaxzxjjyw_mondo_relaxed.owl exposure to cofactor owl:Class MONDO:0012368 biolink:NamedThing aminoacylase 1 deficiency Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms. tmpaxzxjjyw_mondo_relaxed.owl ACY1 deficiency|ACY1D|neurological conditions associated with aminoacylase 1 deficiency|aminoacylase 1 deficiency|N-acyl-L-amino acid amidohydrolase deficiency|deficiency of the aminoacylase-1 enzyme UMLS:C1835922|ICD9:270.8|Orphanet:137754|OMIM:609924|GARD:0009741|MESH:C538246|ICD10:E72.8|SCTID:709282004|EFO:1001981 https://rarediseases.info.nih.gov/diseases/9741/aminoacylase-1-deficiency owl:Class MONDO:0017686 biolink:NamedThing inborn aminoacylase deficiency An acquired metabolic disease that is has its basis in the disruption of aminoacylase activity. tmpaxzxjjyw_mondo_relaxed.owl aminoacylase deficiency|rare inborn error of aminoacylase activity|inborn error of aminoacylase activity|inborn aminoacylase activity disorder Orphanet:308448 owl:Class NCBITaxon:36330 biolink:NamedThing Plasmodium ovale tmpaxzxjjyw_mondo_relaxed.owl malaria parasite P. ovale GC_ID:1|PMID:20380562 ncbi_taxonomy owl:Class NCBITaxon:418103 biolink:NamedThing Plasmodium (Plasmodium) tmpaxzxjjyw_mondo_relaxed.owl Plasmodium GC_ID:1 ncbi_taxonomy owl:Class HGNC:4861 biolink:NamedThing HELLS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019253 biolink:NamedThing metabolic disease involving other neurotransmitter deficiency tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205839|Orphanet:79219 owl:Class MONDO:0019250 biolink:NamedThing inborn disorder of biogenic amine metabolism and transport tmpaxzxjjyw_mondo_relaxed.owl disorder of biogenic amine metabolism and transport Orphanet:79214|UMLS:CN227606 owl:Class MONDO:0018893 biolink:NamedThing Cobb syndrome Cobb syndrome is defined by the association of vascular cutaneous (venous or arteriovenous), muscular (arteriovenous), osseous (arteriovenous) and medullary (arteriovenous) lesions at the same metamere or spinal segment. This segmental distribution may involve one or many of the 31 metameres present in humans. Only 16% of the medullary lesions are multiple and have a clearly metameric distribution. tmpaxzxjjyw_mondo_relaxed.owl spinal arteriovenous metameric syndrome|Cobb's syndrome|cutaneomeningospinal angiomatosis|SAMS 1-31 NCIT:C4485|GARD:0011892|Orphanet:53721|ICD9:239.2|ICD10:Q27.3|UMLS:C0346068|MedDRA:10068841|SCTID:254774003 https://rarediseases.info.nih.gov/diseases/11892/cobb-syndrome owl:Class MONDO:0015950 biolink:NamedThing inherited skin tumor tmpaxzxjjyw_mondo_relaxed.owl genetic skin tumor Orphanet:183487|UMLS:CN200547 owl:Class MONDO:0013742 biolink:NamedThing familial mesial temporal lobe epilepsy with febrile seizures tmpaxzxjjyw_mondo_relaxed.owl FEB11|febrile seizures, familial, type 11|febrile seizures, familial, 11 OMIM:614418|Orphanet:165805 owl:Class MONDO:0000032 biolink:NamedThing febrile seizures, familial tmpaxzxjjyw_mondo_relaxed.owl seizures, familial febrile OMIMPS:121210|DOID:0111297 owl:Class MONDO:0006324 biolink:NamedThing normal breast-like subtype of breast carcinoma A biologic subset of breast carcinoma defined by high expression of many genes expressed by adipose and other non-epithelial tissues. tmpaxzxjjyw_mondo_relaxed.owl normal breast-like subtype of breast cancer|normal breast-like subtype of breast carcinoma EFO:1000402|NCIT:C53557|UMLS:C3642471 owl:Class MONDO:0006116 biolink:NamedThing breast carcinoma by gene expression profile A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma. tmpaxzxjjyw_mondo_relaxed.owl breast carcinoma by gene expression profile EFO:1000143|NCIT:C53553|UMLS:C3642344 owl:Class CHEBI:26373 biolink:NamedThing pteridines tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33833 biolink:NamedThing heteroarene A heterocyclic compound formally derived from an arene by replacement of one or more methine (-C=) and/or vinylene (-CH=CH-) groups by trivalent or divalent heteroatoms, respectively, in such a way as to maintain the continuous pi-electron system characteristic of aromatic systems and a number of out-of-plane pi-electrons corresponding to the Hueckel rule (4n+2). tmpaxzxjjyw_mondo_relaxed.owl hetarenes|heteroarenes owl:Class MONDO:0014894 biolink:NamedThing Meier-Gorlin syndrome 7 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene. tmpaxzxjjyw_mondo_relaxed.owl MGORS7|Meier-Gorlin syndrome 7; MGORS7|Meier-Gorlin syndrome type 7|Meier-Gorlin syndrome 7|CDC45 Meier-Gorlin syndrome|Meier-Gorlin syndrome caused by mutation in CDC45 DOID:0080518|UMLS:C4310738|OMIM:617063 owl:Class MONDO:0016817 biolink:NamedThing Meier-Gorlin syndrome Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure). tmpaxzxjjyw_mondo_relaxed.owl ear-patella-short stature syndrome|Meier-Gorlin syndrome OMIM:613803|OMIMPS:224690|MedDRA:10070612|SCTID:703508009|OMIM:613804|OMIM:617063|MESH:C538012|OMIM:613805|OMIM:613800|GARD:0002033|DOID:0060306|OMIM:616835|Orphanet:2554|ICD10:Q87.1|OMIM:224690 owl:Class HGNC:4208 biolink:NamedThing GCSH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021351 biolink:NamedThing neoplasm of neck A neoplasm (disease) that involves the neck. tmpaxzxjjyw_mondo_relaxed.owl neck neoplasms (Including All pharyngeal related neoplasms)|neoplasm of the neck|neoplasm of neck|tumor of neck|neck tumor|neck neoplasm (disease)|neck neoplasm|tumor of the neck SCTID:126635000|NCIT:C3260|ICD9:239.89|UMLS:C0027533 owl:Class MONDO:0004044 biolink:NamedThing ureter urothelial papilloma A benign epithelial neoplasm that produces visible warty projections from the epithelial surface of the ureter. tmpaxzxjjyw_mondo_relaxed.owl ureter urothelial papilloma DOID:6936|UMLS:C1519823|NCIT:C6160 owl:Class MONDO:0001398 biolink:NamedThing ureter benign neoplasm Cancer or tumors of the ureter which may cause obstruction leading to hydroureter, hydronephrosis, and pyelonephritis. hematuria is a common symptom. tmpaxzxjjyw_mondo_relaxed.owl benign ureteric neoplasm|benign ureteral neoplasm|benign ureteral tumor|ureteral tumor|benign ureter neoplasm|benign neoplasm of the ureter|benign neoplasm of ureter|benign tumor of the ureter|benign ureter tumor|ureter benign neoplasm|ureteral benign neoplasm|benign tumor of ureter DOID:11885|NCIT:C3617|ICD9:223.2|MESH:D014516|SCTID:126882009|SCTID:92464009 owl:Class GO:0022824 biolink:NamedThing transmitter-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts. tmpaxzxjjyw_mondo_relaxed.owl ionotropic neurotransmitter receptor activity owl:Class GO:0005230 biolink:NamedThing extracellular ligand-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003351 biolink:NamedThing colon leiomyosarcoma An aggressive malignant smooth muscle neoplasm that arises from the colon. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of the colon|leiomyosarcoma of colon|colonic leiomyosarcoma|colon leiomyosarcoma DOID:5259|NCIT:C5494|UMLS:C1333093 owl:Class MONDO:0005058 biolink:NamedThing leiomyosarcoma An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma|leiomyosarcoma (excluding uterine leiomyosarcoma)|leiomyosarcoma - not uterine|Leiomyosarcomas|leiomyosarcoma, malignant DOID:1967|ICD10:C49.9|UMLS:C0023269|SCTID:443719001|OMIM:613488|NCIT:C3158|ONCOTREE:LMS|Orphanet:64720|MESH:D007890|MedDRA:10024189|ICDO:8890/3|ICD9:171.9|GARD:0006880|EFO:0000564 https://rarediseases.info.nih.gov/diseases/6880/leiomyosarcoma owl:Class GO:0045640 biolink:NamedThing regulation of basophil differentiation Any process that modulates the frequency, rate or extent of basophil differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030852 biolink:NamedThing regulation of granulocyte differentiation Any process that modulates the frequency, rate or extent of granulocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018227 biolink:NamedThing hypocomplementemic urticarial vasculitis Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations. tmpaxzxjjyw_mondo_relaxed.owl McDuffie syndrome|Mac Duffie hypocomplementemic urticarial vasculitis|McDuffie hypocomplementemic urticarial vasculitis|Mac Duffie syndrome|anti-C1q vasculitis UMLS:CN204757|SCTID:239945009|Orphanet:36412|GARD:0006725|ICD10:M31.8|UMLS:C0343206 https://rarediseases.info.nih.gov/diseases/6725/hypocomplementemic-urticarial-vasculitis owl:Class MONDO:0019724 biolink:NamedThing secondary glomerular disease Secondary glomerular diseases are conditions with glomerular pathology in which an underlying cause can be established. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93551|UMLS:CN206631 owl:Class MONDO:0005295 biolink:NamedThing intermittent vascular claudication A symptom complex characterized by pain and weakness in skeletal muscle group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial stenosis; muscle ischemia; and accumulation of lactate. tmpaxzxjjyw_mondo_relaxed.owl intermittent claudication|Charcot's syndrome EFO:0003876|SCTID:63491006|DOID:3669|ICD9:440.21|UMLS:C0021775|MESH:D007383|ICD10:I73.9 owl:Class MONDO:0005294 biolink:NamedThing peripheral vascular disease Any disorder affecting blood flow through the veins or arteries outside of the heart. tmpaxzxjjyw_mondo_relaxed.owl disease, peripheral vascular|peripheral vascular disorder|vascular disease, peripheral|arterial occlusive disease EFO:0003875|ICD9:443.81|NCIT:C35136|MESH:D016491|DOID:341 owl:Class MONDO:0011580 biolink:NamedThing cerebellar ataxia and hypergonadotropic hypogonadism tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia and hypergonadotropic hypogonadism UMLS:C1854064|Orphanet:1173|MESH:C565308|OMIM:605672 owl:Class MONDO:0008935 biolink:NamedThing cerebellar ataxia-hypogonadism syndrome Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome. tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia - hypogonadism|luteinizing hormone-releasing hormone deficiency with ataxia|GDHS|Gordon Holmes syndrome|luteinizing hormone-releasing hormone, deficiency of, with ataxia|Gordon-Holmes syndrome|cerebellar ataxia and hypogonadotropic hypogonadism|LHRH deficiency and ataxia|luteinizing hormone releasing hormone, deficiency of with ataxia UMLS:C1859305|OMIM:605672|OMIM:212840|MESH:C565870|Orphanet:1173|ICD10:G11.8|GARD:0003314|DOID:0111587 owl:Class MONDO:0005395 biolink:NamedThing movement disorder Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement. tmpaxzxjjyw_mondo_relaxed.owl movement disease|movement disorder|movement disorders EFO:0004280|ICD9:333.99|SCTID:60342002|MESH:D009069|ICD9:333.90|NCIT:C116757|DOID:480 owl:Class UBERON:0009129 biolink:NamedThing right atrium endocardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005291 biolink:NamedThing embryonic tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005041 biolink:NamedThing mucosa of respiratory bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018931 biolink:NamedThing mucolipidosis type III Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients. tmpaxzxjjyw_mondo_relaxed.owl mucolipidosis 3 Alpha/Beta, atypical|ML 3 Alpha/Beta|ML 3 alpha/beta|MLIII|mucolipidosis 3A|mucolipidosis type 3A|ML III alpha/beta|ML 3 A|mucolipidosis III|mucolipidosis type 3 alpha/beta|pseudo-Hurler polydystrophy|mucolipidosis type III alpha/beta|mucolipidosis 3 Alpha/Beta|mucolipidosis 3|ML3|mucolipidosis III ALPHA/BETA|ML 3 Orphanet:577|OMIM:252600|Orphanet:423461|DOID:0080071|OMIM:252605|GARD:0003806|ICD10:E77.0|UMLS:CN237499|SCTID:65764006 https://rarediseases.info.nih.gov/diseases/3806/mucolipidosis-iii-alphabeta owl:Class MONDO:0019706 biolink:NamedThing lysosomal storage disease with skeletal involvement tmpaxzxjjyw_mondo_relaxed.owl dysostosis multiplex 2022-03-01 Orphanet:93448|SCTID:254069004|UMLS:CN206618|ICD9:756.9 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: lysosomal storage disease' MONDO_0002561 owl:Class UBERON:0007300 biolink:NamedThing pectoral appendage blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007301 biolink:NamedThing appendage blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2001251 biolink:NamedThing negative regulation of chromosome organization Any process that stops, prevents or reduces the frequency, rate or extent of chromosome organization. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of chromosome organisation|negative regulation of nuclear genome maintenance|negative regulation of maintenance of genome integrity|negative regulation of chromosome organization and biogenesis owl:Class GO:0010639 biolink:NamedThing negative regulation of organelle organization Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of organelle organization and biogenesis|negative regulation of organelle organisation owl:Class MONDO:0001500 biolink:NamedThing gender identity disorder A disorder characterized by a strong and persistent cross-gender identification (such as stating a desire to be the other sex or frequently passing as the other sex) coupled with persistent discomfort with his or her sex (manifested in adults, for example, as a preoccupation with altering primary and secondary sex characteristics through hormonal manipulation or surgery). tmpaxzxjjyw_mondo_relaxed.owl EFO:0008587|NCIT:C94362|ICD9:302.89|SCTID:87991007|DOID:1234|ICD9:302.6|ICD9:302.85|ICD10:F64.2|ICD9:302.8 owl:Class MONDO:0002025 biolink:NamedThing psychiatric disorder A disorder characterized by behavioral and/or psychological abnormalities, often accompanied by physical symptoms. The symptoms may cause clinically significant distress or impairment in social and occupational areas of functioning. Representative examples include anxiety disorders, cognitive disorders, mood disorders and schizophrenia. tmpaxzxjjyw_mondo_relaxed.owl mental disorder|mental illness|mental dysfunction|disease of mental health|Psychiatric disorder|Psychiatric disease NCIT:C2893|DOID:150|MFOMD:0000004|MESH:D001523|ICD10:F99-F99|ICD10:F99 owl:Class UBERON:0003076 biolink:NamedThing posterior neural tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002050 biolink:NamedThing embryonic structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001025 biolink:NamedThing pressure A physical quality that inheres in a bearer by virtue of the bearer's amount of force per unit area it exerts. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001018 biolink:NamedThing physical quality A quality of a physical entity that exists through action of continuants at the physical level of organisation in relation to other entities. tmpaxzxjjyw_mondo_relaxed.owl relational physical quality owl:Class MONDO:0023619 biolink:NamedThing lentigo maligna melanoma Lentigo maligna melanoma (LMM) is a type of skin cancer that usually develops in older, fair-skinnedadults. The average age of diagnosis is65. LMM is thought to be caused by a history of sun exposure to the affected area. Treatment includes surgery to remove as much of the LMM as possible. tmpaxzxjjyw_mondo_relaxed.owl SKLMM|lentigo maligna melanoma|Hutchison melanotic freckle|LMM|malignant lentigo melanoma SCTID:302837001|ICD9:172.8|ONCOTREE:SKLMM|ICDO:8742/3|UMLS:C2739810|GARD:0009962|NCIT:C9151 https://rarediseases.info.nih.gov/diseases/9962/lentigo-maligna-melanoma owl:Class MONDO:0005012 biolink:NamedThing cutaneous melanoma A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma. tmpaxzxjjyw_mondo_relaxed.owl malignant ear melanoma|malignant melanoma of skin of trunk except scrotum|malignant melanoma of skin of upper limb|malignant cutaneous melanoma|zone of skin melanoma|cutaneous melanoma (disease)|malignant melanoma of ear and/or external auricular canal|malignant scalp melanoma|malignant trunk melanoma|malignant neck melanoma|malignant melanoma of skin|malignant lower limb melanoma|malignant melanoma of skin of lower limb|skin, melanoma|skin melanoma|cutaneous melanoma|cutaneous (skin) melanoma|melanoma of skin|malignant upper limb melanoma|malignant melanoma (of skin), stage unspecified|melanoma of the skin|malignant lip melanoma|melanoma (disease) of zone of skin|malignant melanoma of skin stage unspecified|zone of skin melanoma (disease) cutaneous melanoma (disease) ICD10:C43.2|ICD9:172.2|UMLS:C0151779|ICD10:C43.4|OMIM:608035|NCIT:C3510|HP:0012056|ICD9:172.4|ICD10:C43.0|ICD10:C43|UMLS:C0153535|UMLS:C0153536|OMIM:609048|OMIM:614456|ICD9:172|ICD9:172.8|ONCOTREE:SKCM|OMIM:615848|ICD10:C43.9|ICD9:172.5|ICD9:172.3|ICD9:172.9|OMIM:613972|OMIM:612263|OMIM:615134|ICD9:172.0|EFO:0000389|DOID:8923|OMIM:613099|OMIM:155600|SCTID:93655004 owl:Class GO:0004866 biolink:NamedThing endopeptidase inhibitor activity Binds to and stops, prevents or reduces the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. tmpaxzxjjyw_mondo_relaxed.owl alpha-2 macroglobulin|endoproteinase inhibitor|proteinase inhibitor owl:Class GO:0030414 biolink:NamedThing peptidase inhibitor activity Binds to and stops, prevents or reduces the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds. tmpaxzxjjyw_mondo_relaxed.owl protease inhibitor activity owl:Class MONDO:0001700 biolink:NamedThing megaloblastic anemia Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs. tmpaxzxjjyw_mondo_relaxed.owl Grasbeck-Imerslund syndrome|recessive hereditary megaloblastic anemia 1|megaloblastic anemia (disease)|MGA1 Norwegian type|IGS|RH-MGA1|megaloblastic anemia megaloblastic anemia (disease) UMLS:C0002888|ICD10:D53.1|NCIT:C34382|OMIM:261100|SCTID:53165003|ICD9:281.3|DOID:13382|HP:0001889|OMIM:613839 owl:Class MONDO:0002281 biolink:NamedThing macrocytic anemia Anemia that is characterized by increased red blood cell volume. tmpaxzxjjyw_mondo_relaxed.owl anemia macrocytic|macrocytic anemia|macrocytic anaemia of unspecified cause|macrocytic anaemia|macrocytic anemia (disease)|macrocytic Anemia|D22S676|D22S750 macrocytic anemia (disease) MESH:D000748|NCIT:C34381|DOID:2361|SCTID:83414005|HP:0001972|UMLS:C0002886 owl:Class MONDO:0700002 biolink:NamedThing ATP1A3-associated neurological disorder Any neurological disorder in which the cause of the disease is a mutation in the ATP1A3. tmpaxzxjjyw_mondo_relaxed.owl neurological disorder caused by mutation in ATP1A3|ATP1A3 neurological disorder|ATP1A3 related neurological disorder http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0014261 biolink:NamedThing growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 18|combined oxidative phosphorylation deficiency 18|combined oxidative phosphorylation deficiency caused by mutation in SFXN4|SFXN4 combined oxidative phosphorylation deficiency|COXPD18 OMIM:615578|ICD10:E88.8|UMLS:C3810001|DOID:0111484|Orphanet:391348 owl:Class MONDO:0014705 biolink:NamedThing craniosynostosis 6 Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene. tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis 6|craniosynostosis caused by mutation in ZIC1|CRS6|ZIC1 craniosynostosis|craniosynostosis type 6 UMLS:C4225269|OMIM:616602 owl:Class MONDO:0018113 biolink:NamedThing isolated plagiocephaly Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry. tmpaxzxjjyw_mondo_relaxed.owl synostotic plagiocephaly|non-syndromic unicoronal synostosis ICD10:Q67.3|Orphanet:35098|OMIM:123100|OMIM:615314|OMIM:616602 owl:Class UBERON:0006694 biolink:NamedThing cerebellum vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036303 biolink:NamedThing vasculature of central nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001662 biolink:NamedThing Bradycardia A slower than normal heart rate (in adults, slower than 60 beats per minute). tmpaxzxjjyw_mondo_relaxed.owl Brachycardia|Slow heartbeats UMLS:C0428977|MSH:D001919|SNOMEDCT_US:48867003 human_phenotype owl:Class HP:0011675 biolink:NamedThing Arrhythmia Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. tmpaxzxjjyw_mondo_relaxed.owl Cardiac arrhythmia|Cardiac rhythm disturbances|Abnormal heart rate|Irregular heart beat|Cardiac arrhythmias|Arrhythmias|Heart rhythm disorders|Irregular heartbeat UMLS:C0522055|MSH:C562490|MSH:D001145|UMLS:C1832603|SNOMEDCT_US:102594003|UMLS:C1842820|UMLS:C0003811|SNOMEDCT_US:698247007|UMLS:C0264886|UMLS:C0855329|SNOMEDCT_US:44808001 peter 2012-04-09T12:47:32Z HP:0001721|HP:0001666|HP:0004351|HP:0005158|HP:0001656|HP:0001661|HP:0001687|HP:0001675|HP:0001665 human_phenotype owl:Class MONDO:0000959 biolink:NamedThing malignant hypertensive renal disease tmpaxzxjjyw_mondo_relaxed.owl SCTID:65443008|UMLS:C0155593|ICD9:403.00|DOID:10177 owl:Class MONDO:0015512 biolink:NamedThing genetic hypertension An instance of hypertension that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic hypertension|genetic hypertensive disorder UMLS:C0598428|Orphanet:156629 owl:Class MONDO:0014595 biolink:NamedThing developmental and epileptic encephalopathy, 30 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene. tmpaxzxjjyw_mondo_relaxed.owl SIK1 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in SIK1|epileptic encephalopathy, early infantile, type 30|DEE30|epileptic encephalopathy, early infantile, 30|EIEE30 OMIM:616341|DOID:0080465|Orphanet:1935|Orphanet:3451|UMLS:C4225360 owl:Class MONDO:0009809 biolink:NamedThing multicentric osteolysis, nodulosis, and arthropathy A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy. tmpaxzxjjyw_mondo_relaxed.owl Torg-Winchester syndrome|NAO syndrome|osteolysis, hereditary multicentric|multicentric osteolysis, nodulosis, and arthropathy|nodulosis-arthropathy-osteolysis syndrome|Torg-Winchester syndrome, formerly|Al-Aqeel Sewairi syndrome|mona|Torg syndrome OMIM:259600|NCIT:C123437 owl:Class MONDO:0024300 biolink:NamedThing hypophosphatemic rickets Rickets due to low serum phosphate concentrations, the cause of which can be nutritional or genetic. This condition is characterized by normal parathyroid hormone concentrations, usually caused by renal phosphate wasting occurring in isolation or as part of a renal tubular disorder, and characterized by resistance to treatment with ultraviolet radiation or vitamin D. tmpaxzxjjyw_mondo_relaxed.owl hypophosphatemic rickets|acquired vitamin D resistant rickets|rickets, vitamin D-resistant|hypophosphatemic vitamin D-resistant rickets|Phosphopenic rickets|rickets, vitamin D resistant|vitamin D-resistant rickets|hypophosphatemic vitamin D resistant rickets|acquired vitamin D-resistant rickets|hypophosphatemia, vitamin D-resistant rickets|Ricket, hypophosphatemic|hypophosphatemic Ricket NCIT:C131449|MESH:D063730 owl:Class MONDO:0005520 biolink:NamedThing rickets Bone softening and weakening usually caused by deficiency or impaired metabolism of vitamin D. Deficiency of calcium, magnesium, or phosphorus may also cause rickets. It predominantly affects children who suffer from severe malnutrition. It manifests with bone pain, fractures, muscle weakness, and skeletal deformities. tmpaxzxjjyw_mondo_relaxed.owl active rickets|vitamin D deficiency disease|vitamin D hydroxylation-deficient rickets|rickets|nutritional rickets|hypovitaminosis D|rickets (disease)|rachitis|vitamin-D deficiency rickets rickets (disease) ICD10:E55.0|HP:0002748|GARD:0005700|NCIT:C26878|OMIM:277440|EFO:0005583|OMIM:264700|ICD9:268.0|UMLS:C0035579|MESH:D012279|SCTID:41345002|OMIM:600785|Orphanet:289157|DOID:10609|OMIM:600081 owl:Class MONDO:0008642 biolink:NamedThing VACTERL/vater association VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. tmpaxzxjjyw_mondo_relaxed.owl vertebral abnormalities, anal atresia, Cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome|VATER syndrome|VATER/VACTERL association|VATER association|VACTERL association UMLS:C1735591|DOID:14679|Orphanet:887|MedDRA:10053665|OMIM:192350|OMIM:276950|UMLS:C0220708|SCTID:27742002|ICD9:759.89|MedDRA:10066022|UMLS:CN206312|NCIT:C99105|GARD:0005443|ICD10:Q87.2 owl:Class MONDO:0019721 biolink:NamedThing syndromic renal or urinary tract malformation A renal or urinary tract malformation that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic renal or urinary tract malformation|syndromic congenital anomaly of kidney and urinary tract|syndrome associated with congenital anomaly of kidney and urinary tract UMLS:CN227683|Orphanet:93547 owl:Class UBERON:0011677 biolink:NamedThing trunk vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002412 biolink:NamedThing vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004559 biolink:NamedThing alpha-mannosidase activity Catalysis of the hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. tmpaxzxjjyw_mondo_relaxed.owl 1,2-alpha-D-mannosidase activity|p-nitrophenyl-alpha-mannosidase activity|1,2-alpha-mannosidase|exo-alpha-mannosidase activity|alpha-D-mannoside mannohydrolase activity|alpha-D-mannosidase activity|alpha-D-mannopyranosidase activity owl:Class GO:0015923 biolink:NamedThing mannosidase activity Catalysis of the hydrolysis of mannosyl compounds, substances containing a group derived from a cyclic form of mannose or a mannose derivative. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005334 biolink:NamedThing hereditary nephritis A group of inherited conditions characterized initially by hematuria and slowly progressing to renal insufficiency. The most common form is the Alport syndrome (hereditary nephritis with hearing loss) which is caused by mutations in genes for type IV collagen and defective glomerular basement membrane. tmpaxzxjjyw_mondo_relaxed.owl hereditary nephritis|nephritis, familial|familial nephritis EFO:0004128|SCTID:399340005|MESH:D009394 owl:Class MONDO:0002043 biolink:NamedThing ectropion The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl ectropion|ectropion (disease)|ectropion of eyelid|everted margin ectropion (disease) ICD10:H02.1|ICD9:374.1|UMLS:C0013592|SCTID:62909004|HP:0000656|ICD10:H02.109|ICD10:H02.10|ICD9:374.10|DOID:1570|MESH:D004483 owl:Class MONDO:0003382 biolink:NamedThing eyelid disorder A disease involving the eyelid. tmpaxzxjjyw_mondo_relaxed.owl eyelid disease|eyelid disease or disorder|disease of eyelid|eyelid disorder|disease or disorder of eyelid|disorder of eyelid ICD9:374.89|MESH:D005141|DOID:530|SCTID:60113004|ICD10:H02.9|NCIT:C26768|ICD10:H00|ICD9:374.9 owl:Class MONDO:0023554 biolink:NamedThing acquired testicular failure Testicular failure, the cause of which is not present at birth. tmpaxzxjjyw_mondo_relaxed.owl Acquired testicular failure|Acquired Testicular Failure|acquired testicular failure UMLS:C0403818|NCIT:C131091|SCTID:236811002 owl:Class MONDO:0005372 biolink:NamedThing male infertility The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility. tmpaxzxjjyw_mondo_relaxed.owl infertility disorder of male reproductive system|male reproductive system infertility|male reproductive system infertility disorder MESH:D007248|ICD10:N46.9|DOID:12336|UMLS:C0021364|ICD9:606|EFO:0004248|ICD9:606.9|SCTID:2904007|ICD10:N46 owl:Class MONDO:0007238 biolink:NamedThing amastia Absence of one or both mammary glands. tmpaxzxjjyw_mondo_relaxed.owl absent breasts and nipples|amazia|amastia|BNAH1|breasts and/or nipples, aplasia or hypoplasia of, 1|athelia|complete absence of breasts UMLS:CN033494|SCTID:75474006|NCIT:C118459|GARD:0009489|MESH:C535565|Orphanet:180188|OMIM:113700 https://rarediseases.info.nih.gov/diseases/9489/absent-breasts-and-nipples owl:Class MONDO:0015855 biolink:NamedThing isolated congenital breast hypoplasia/aplasia tmpaxzxjjyw_mondo_relaxed.owl breasts and/or nipples, aplasia or hypoplasia of|isolated congenital amastia OMIMPS:113700|ICD10:Q83.0|OMIM:616001|Orphanet:180188|OMIM:113700 owl:Class UBERON:0002194 biolink:NamedThing capsule of lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008382 biolink:NamedThing retinoschisis, autosomal dominant Autosomal dominant form of retinoschisis. tmpaxzxjjyw_mondo_relaxed.owl retinoschisis autosomal dominant|retinoschisis, autosomal dominant|autosomal dominant retinoschisis UMLS:C1867235|MESH:C000598640|OMIM:180270|GARD:0009144 https://rarediseases.info.nih.gov/diseases/9144/retinoschisis-autosomal-dominant owl:Class MONDO:0019118 biolink:NamedThing inherited retinal dystrophy An instance of retinal degeneration that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic retinal dystrophy|fundus dystrophy|hereditary retinal dystrophy|inherited retinal dystrophy|retinal dystrophy|familial retinal dystrophy|hereditary retinal degeneration ICD9:362.72|DOID:8501|ICD9:362.75|ICD10:H35.5|DOID:8500|SCTID:41799005|HP:0000556|MESH:D058499|NCIT:C35625|UMLS:C0154860|Orphanet:71862|UMLS:C0854723|ICD9:362.70|MedDRA:10038857|NCIT:C35194|ICD9:362.7|ICD10:H35.50|SCTID:314407005 Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same owl:Class HGNC:6207 biolink:NamedThing JUP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004744 biolink:NamedThing borderline glaucoma tmpaxzxjjyw_mondo_relaxed.owl Preglaucoma UMLS:C1533674|ICD9:365.00|SCTID:193531003|DOID:9283|ICD10:H40.00 owl:Class MONDO:0005041 biolink:NamedThing glaucoma Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. tmpaxzxjjyw_mondo_relaxed.owl glaucoma|glaucoma (disease) glaucoma (disease) ICD10:H40.H42|MESH:D005901|ICD9:365|ICD10:H40-H42|HP:0000501|SCTID:23986001|ICD9:365.89|ICD10:H40|NCIT:C26782|UMLS:C0017601|ICD9:365.9|DOID:1686|ICD10:H40.9|EFO:0000516 owl:Class FOODON:03411433 biolink:NamedThing shellfish The term shellfish is used both broadly and specifically. For regulatory purposes it is often narrowly defined as filter-feeding molluscs such as clams, mussels, and oyster to the exclusion of crustaceans and all else. Although their shells may differ, all shellfish are invertebrates. tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00002581 biolink:NamedThing aquatic invertebrate An aquatic invertebrate may live entirely beneath the water, or may live upon its surface or on the plants surrounding it. Some breathe air, others breathe water. To move, they may walk, swim, float, skate, fly or glide on their bellies—or they may not move much at all. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005449 biolink:NamedThing conduction system disorder A disease involving the conducting system of heart. tmpaxzxjjyw_mondo_relaxed.owl disorder of conducting system of heart|disease of conducting system of heart|conducting system of heart disease|disease or disorder of conducting system of heart|conducting system of heart disease or disorder EFO:0005137 owl:Class MONDO:0003939 biolink:NamedThing muscle tissue disorder A disease involving the muscle tissue. tmpaxzxjjyw_mondo_relaxed.owl muscle tissue disease|muscle tissue disease or disorder|disease or disorder of muscle tissue|disorder of muscle tissue|disease of muscle tissue DOID:66 owl:Class MONDO:0008054 biolink:NamedThing juvenile dermatomyositis Juvenile dermatomyositis (JDM) is the early-onset form of dermatomyositis (DM), a systemic, autoimmune inflammatory muscle disorder, characterized by proximal muscle weakness, evocative skin lesion, and systemic manifestations. tmpaxzxjjyw_mondo_relaxed.owl JPM|myopathy, familial idiopathic inflammatory|inflammation of myoseptum|childhood dermatomyositis|JDM|childhood type dermatomyositis|myoseptumitis|myositis|juvenile dermatomyositis|juvenile DM|juvenile myositis|myoseptum inflammation NCIT:C27576|GARD:0006805|MedDRA:10008521|MESH:C000598745|EFO:0000557|UMLS:C2931785|Orphanet:93672|ICD10:M33.0|MESH:D003882|SCTID:1212005|DOID:14203|MESH:C538250 https://rarediseases.info.nih.gov/diseases/6805/juvenile-dermatomyositis owl:Class MONDO:0018010 biolink:NamedThing juvenile idiopathic inflammatory myopathy tmpaxzxjjyw_mondo_relaxed.owl JIIM Orphanet:329888 owl:Class GO:0006909 biolink:NamedThing phagocytosis A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016192 biolink:NamedThing vesicle-mediated transport A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. tmpaxzxjjyw_mondo_relaxed.owl protein sorting along secretory pathway|vesicular transport|vesicle trafficking|vesicle transport|nonselective vesicle transport owl:Class GO:0048261 biolink:NamedThing negative regulation of receptor-mediated endocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of receptor mediated endocytosis|downregulation of receptor mediated endocytosis|down regulation of receptor mediated endocytosis|negative regulation of receptor mediated endocytosis|inhibition of receptor mediated endocytosis owl:Class GO:0045806 biolink:NamedThing negative regulation of endocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of endocytosis. tmpaxzxjjyw_mondo_relaxed.owl inhibition of endocytosis|down regulation of endocytosis|down-regulation of endocytosis|downregulation of endocytosis owl:Class CHEBI:35222 biolink:NamedThing inhibitor A substance that diminishes the rate of a chemical reaction. tmpaxzxjjyw_mondo_relaxed.owl inhibiteur|inhibitor|inhibitors|inhibidor owl:Class CHEBI:24432 biolink:NamedThing biological role A role played by the molecular entity or part thereof within a biological context. tmpaxzxjjyw_mondo_relaxed.owl biological function owl:Class MONDO:0017194 biolink:NamedThing Blount disease Blount disease is characterized by disturbed growth of the inner portion of the upper tibial extremity, progressively leading to bowlegged deformity with bone angulation just below the knee (tibia varus). In 60% of cases, the condition affects both legs. tmpaxzxjjyw_mondo_relaxed.owl Osteochondrosis deformans tibiae|tibia vara|infantile tibia vara|Blount's disease|Erlacher-Blount syndrome|Blount-Barber syndrome|Osteochondrosis deformans tibiae, familial infantile type|Blount disease|tibia vara Blount|familial infantile type osteochondrosis deformans tibiae ICD10:M92.5|Orphanet:2768|ICD9:736.89|OMIM:259200|SCTID:79353000|GARD:0000916|DOID:14798|NCIT:C118460|OMIM:188700|MESH:C536237|MedDRA:10072255 https://rarediseases.info.nih.gov/diseases/916/blount-disease owl:Class MONDO:0005516 biolink:NamedThing osteochondrodysplasia A term referring to disorders characterized by abnormalities in the development of bones and cartilage. tmpaxzxjjyw_mondo_relaxed.owl skeletal dysplasia|congenital skeletal dysplasia|osteochondrodysplasia|cartilage development disorder|congenital anomaly of cartilage|osteochondrodysplasia syndrome MESH:D010009|ICD10:Q78.9|NCIT:C84978|GARD:0006051|EFO:0005571|OMIM:215050|ICD9:756.4|DOID:2256|UMLS:C0029422|SCTID:105985007 owl:Class MONDO:0011798 biolink:NamedThing hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration tmpaxzxjjyw_mondo_relaxed.owl hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration|harp syndrome Orphanet:157855|OMIM:607236|UMLS:C1846582|MESH:C564603 owl:Class MONDO:0019376 biolink:NamedThing West-Nile encephalitis An acute arboviral infection caused by a virus of the Flaviviridae family transmitted by an infected mosquito, that is asymptomatic in the majority of cases but that can present in rare occasions with mild flulike symptoms such as low-grade fever, arthralgia, myalgia, and/or rash, or with neurologic manifestations including meningitis, encephalitis with mental confusion or disorientation, tremors and acute flaccid paralysis/poliomyelitis. tmpaxzxjjyw_mondo_relaxed.owl West-Nile fever|West Nile encephalitis|West Nile fever with encephalitis|West Nile virus infectious encephalitis|West Nile virus caused infectious encephalitis|West Nile fever encephalitis ICD9:066.41|SCTID:392662004|OMIM:610379|GARD:0009959|ICD10:A92.31|ICD10:A92.3|DOID:2365|MESH:D014901|Orphanet:83476|EFO:0007545 owl:Class MONDO:0006193 biolink:NamedThing endometrial hyperplasia without atypia Simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia. tmpaxzxjjyw_mondo_relaxed.owl typical endometrial hyperplasia NCIT:C40157|EFO:1000234|ICD9:621.34|SCTID:134031000119108 owl:Class MONDO:0041161 biolink:NamedThing endometrial hyperplasia A proliferation of the endometrial cells resulting in glandular enlargement and budding. The proliferation may or may not be associated with atypia of the endometrial cells. When the hyperplastic changes are excessive, there is formation of complex epithelial structures (complex endometrial hyperplasia). tmpaxzxjjyw_mondo_relaxed.owl hyperplasia of endometrium|endometrial hyperplasia|hyperplasia of the endometrium DOID:0080365|UMLS:C0014173|HP:0040298|SCTID:237072009|NCIT:C3013 Editor note: cede to HPO owl:Class MONDO:0024676 biolink:NamedThing childhood kidney Wilms tumor A Wilms tumor of the kidney which occurs in children. tmpaxzxjjyw_mondo_relaxed.owl childhood Wilms tumor|childhood renal Wilms' tumor|childhood renal Wilms tumor|kidney Wilms tumor|Wilms tumor|childhood kidney Wilms tumor NCIT:C27730|UMLS:C1333015 owl:Class MONDO:0019004 biolink:NamedThing kidney Wilms tumor An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver. tmpaxzxjjyw_mondo_relaxed.owl childhood renal Wilms tumor|Wilms tumor of the kidney|Wilms' tumor|embryonal nephroma|kidney Wilms tumor|adult nephroblastoma|Wilms tumor|renal Wilms' tumor|nephroblastoma|Wilms' tumor of the kidney|nonanaplastic renal Wilm's tumor|nephroblastoma, malignant|renal Wilms tumor|renal embryonic tumor|childhood renal Wilms' cancer OMIM:194070|OMIM:194071|OMIM:194090|OMIM:601363|ICDO:8960/3|SCTID:302849000|ICD10:C64|OMIM:616806|ONCOTREE:WT|GARD:0007892|DOID:5176|UMLS:C0027708|DOID:2154|MedDRA:10029145|NCIT:C40407|MESH:D009396|Orphanet:654|OMIM:601583 owl:Class PO:0030109 biolink:NamedThing hesperidium fruit A berry fruit (PO:0030108) which develops from a superior gynoecium (PO:0009062) and at maturity comprises a thickened exocarp (PO:0009085), thickened mesocarp (PO:0009087), and endocarp (PO:0009086), and has as parts juice sacs (PO:0006013) on a carpel adaxial epidermis (PO:0025618). tmpaxzxjjyw_mondo_relaxed.owl citrus fruit (exact)|hesperide (exact, German)|hesperidium (exact)|panzerbeere (broad, German)|hesperidio (exact, Spanish)|indehiscent fruit (broad) PO_GIT:652 A hesperidium fruit (PO:0030109) develops from a superior gynoecium (PO:0009062), and therefore is not surrounded by receptacle (PO:0009064) tissue. Examples: orange, grapefruit, lemon, and lime (Citrus spp.). plant_anatomy owl:Class PO:0030108 biolink:NamedThing berry fruit A fruit (PO:0009001) which at maturity comprises a fleshy endocarp (PO:0009086), fleshy mesocarp (PO:0009087), and fleshy exocarp (PO:0009085). tmpaxzxjjyw_mondo_relaxed.owl pyrine (narrow)|baya (exact, Spanish)|beere (exact, German)|bacca (exact)|indehiscent fruit (broad)|berry (exact) PO_GIT:652 Examples: pepper (Capsicum annuum), papaya (Carica papaya), avocado (Persea americana), may apple (Podophyllum peltatum), date palm (Phoenix dactylifera), tomato (Solanum lycopersicum), potato (Solanum tuberosum), chocolate (Theobroma cacao), blueberry (Vaccinium spp.), and grape (Vitis vinifera). plant_anatomy owl:Class MONDO:0021064 biolink:NamedThing jugulotympanic paraganglioma A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear. tmpaxzxjjyw_mondo_relaxed.owl Paraganglioma - glomus jugulare|glomus jugulare neoplasm|parasympathetic paraganglioma of basicranium|Glomus tumor|glomus jugulare tumor|tumor of the glomus jugulare|tumor of glomus jugulare|neoplasm of glomus jugulare|neoplasm of the glomus jugulare|jugulotympanic paraganglioma|jugular paraganglioma|basicranium parasympathetic paraganglioma NCIT:C3061|ICDO:8690/1|SCTID:127030001|GARD:0010599|UMLS:C0017671|ICD9:239.7 owl:Class MONDO:0006239 biolink:NamedThing head and neck paraganglioma A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas. tmpaxzxjjyw_mondo_relaxed.owl paraganglioma of craniocervical region|paraganglioma of the head and neck|head and neck paraganglioma|craniocervical region paraganglioma|paraganglioma of head and neck NCIT:C5327|EFO:1000288|UMLS:C1333944 owl:Class MONDO:0012530 biolink:NamedThing palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. tmpaxzxjjyw_mondo_relaxed.owl palmoplantar hyperkeratosis and true hermaphroditism|palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome|palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX SEX reversal MESH:C567165|Orphanet:85112|OMIM:610644|ICD10:Q56.0 owl:Class MONDO:0017576 biolink:NamedThing 46,XX disorder of sex development Conditions affecting individuals with 46,XX karyotype characterized by atypical development of one or more of the following: the gonads, the internal reproductive structures, the external reproductive/genital structures. tmpaxzxjjyw_mondo_relaxed.owl 46,XX disorders of Sex development|46,XX DSD|female pseudohermaphroditism|46,XX differences of Sex development MESH:D058489|SCTID:8800006|NCIT:C127169|UMLS:CN776919|ICD10:Q56.2|Orphanet:2982|UMLS:C2936403 owl:Class CL:0001201 biolink:NamedThing B cell, CD19-positive A B cell that is CD19-positive. tmpaxzxjjyw_mondo_relaxed.owl B-lymphocyte, CD19-positive|B lymphocyte, CD19-positive|CD19+ B cell|B-cell, CD19-positive|CD19-positive B cell https://orcid.org/0000-0001-9990-8331 cell owl:Class CL:0000236 biolink:NamedThing B cell A lymphocyte of B lineage that is capable of B cell mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl B-lymphocyte|B-cell|B lymphocyte BTO:0000776|FMA:62869|CALOHA:TS-0068|VHOG:0001480 cell owl:Class HGNC:5466 biolink:NamedThing IGF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001758 biolink:NamedThing paranasal sinus sarcoma A malignant soft tissue neoplasm that arises from the paranasal sinus. tmpaxzxjjyw_mondo_relaxed.owl paranasal sinus sarcoma|sarcoma of the paranasal sinus|sarcoma of the accessory sinus|sarcoma of paranasal sinus|accessory sinus sarcoma|sarcoma of accessory sinus UMLS:C1335342|DOID:1362|NCIT:C6849 owl:Class MONDO:0005089 biolink:NamedThing sarcoma A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of soft tissue and bone|tumor of soft tissue and skeleton|sarcoma, malignant|sarcoma|mesenchymal tumor, malignant|sarcoma of the soft tissue and bone ICD9:171|ICD9:171.3|EFO:0000691|GARD:0012018|ICD9:171.2|SCTID:424413001|MESH:D012509|NCIT:C9118|ICD9:171.9|ICD9:171.6|ICD9:171.0|ICD9:171.4|ICD9:171.5|ICD10:C49|ICD9:171.7|ICDO:8800/3|DOID:1115|ICD9:171.8 owl:Class MONDO:0006221 biolink:NamedThing gastric adenoma A neoplastic polyp that arises from the stomach. This category includes intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps. tmpaxzxjjyw_mondo_relaxed.owl stomach adenoma|adenoma of the stomach|adenoma of stomach|gastric adenoma EFO:1000268|NCIT:C7699|UMLS:C0149826 owl:Class MONDO:0021085 biolink:NamedThing gastric neoplasm A benign or malignant neoplasm involving the stomach. tmpaxzxjjyw_mondo_relaxed.owl tumor of stomach|gastric neoplasm|neoplasm of the stomach|stomach neoplasm (disease)|stomach tumor|tumor of the stomach|gastric tumor|neoplasm of stomach|stomach neoplasm EFO:0003897|UMLS:C0038356|SCTID:126824007|NCIT:C3387|MESH:D013274 owl:Class MONDO:0014732 biolink:NamedThing hypomyelinating leukodystrophy 12 Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene. tmpaxzxjjyw_mondo_relaxed.owl HLD12|leukodystrophy, hypomyelinating, 12|VPS11-related autosomal recessive hypomyelinating leukodystrophy|hypomyelinating leukodystrophy type 12|leukodystrophy, hypomyelinating, type 12|VPS11-related autosomal recessive hypomyelinating leukoencephalopathy|leukodystrophy caused by mutation in VPS11|VPS11 leukodystrophy Orphanet:466934|DOID:0060796|OMIM:616683|UMLS:C4225247 owl:Class MONDO:0019046 biolink:NamedThing leukodystrophy Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems. tmpaxzxjjyw_mondo_relaxed.owl hypomyelinating leukodystrophy|hypomyelinating leukoencephalopathy|leukodystrophy, hypomyelinating|HLD GARD:0006895|SCTID:192781003|UMLS:CN228461|Orphanet:68356|MedDRA:10024381|ICD9:330.0|DOID:0060786|DOID:10579|NCIT:C61253|ICD10:E75.2|UMLS:C0023520|OMIMPS:312080|DOID:0050987 Editor note: At this time DO has two classes 'hypomyelinating leukodystrophy' and one 'leukodystrophy' https://rarediseases.info.nih.gov/diseases/6895/leukodystrophy owl:Class MONDO:0016334 biolink:NamedThing neuromuscular disease with dilated cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN201165|Orphanet:217610 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neuromuscular disease' MONDO_0019056 owl:Class MONDO:0019056 biolink:NamedThing neuromuscular disease Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions tmpaxzxjjyw_mondo_relaxed.owl neuromuscular disease|nerve and muscle disorder ICD9:358.9|DOID:440|ICD10:G70.9|Orphanet:68381|MedDRA:10029323|ICD9:358|EFO:1001902|MESH:D009468|UMLS:C0027868 owl:Class CL:0000595 biolink:NamedThing enucleate erythrocyte An erythrocyte lacking a nucleus. tmpaxzxjjyw_mondo_relaxed.owl RBC|red blood cell cell owl:Class CL:0000232 biolink:NamedThing erythrocyte A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen. tmpaxzxjjyw_mondo_relaxed.owl RBC|red blood cell BTO:0000424|CALOHA:TS-0290|FMA:81100 cell owl:Class MONDO:0100363 biolink:NamedThing genital herpes simplex type 2 infectious disorder Any herpes simplex type 2 infectious disease that involves the genitals. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0100360 biolink:NamedThing herpes simplex type 2 infectious disease A disease caused by infection with herpes simplex type 2. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class CHEBI:36359 biolink:NamedThing phosphorus oxoacid derivative tmpaxzxjjyw_mondo_relaxed.owl phosphorus oxoacid derivative owl:Class CHEBI:36360 biolink:NamedThing phosphorus oxoacids and derivatives tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18141 biolink:NamedThing DCDC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044351 biolink:NamedThing Schistosoma intercalatum infectious disease An disease or disorder caused by infection with Schistosoma intercalatum. tmpaxzxjjyw_mondo_relaxed.owl infection caused by Schistosoma intercalatum|Schistosoma intercalatum caused disease or disorder|Schistosoma intercalatum disease or disorder|infection by Schistosoma intercalatum ICD9:120.8|SCTID:52179003|NCIT:C35364|UMLS:C0276932 owl:Class MONDO:0020107 biolink:NamedThing hemolytic anemia due to an erythrocyte nucleotide metabolism disorder tmpaxzxjjyw_mondo_relaxed.owl hemolytic anemia due to an erythroenzymopathy 2022-03-01 Orphanet:98374|UMLS:CN227784|ICD10:D55.3 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemolytic anemia' MONDO_0003664 owl:Class MONDO:0005066 biolink:NamedThing metabolic disease A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process. tmpaxzxjjyw_mondo_relaxed.owl metabolic disease|metabolic disorder|metabolic process disease|disease of metabolism|disorder of metabolic process EFO:0000589|NCIT:C3235|ICD10:E88.9|UMLS:C0025517|ICD9:277.9|MESH:D008659|ICD9:277.8|DOID:0014667|SCTID:75934005|ICD10:E70.E90 owl:Class CHEBI:32494 biolink:NamedThing D-phenylalaninate The D-enantiomer of phenylalaninate. tmpaxzxjjyw_mondo_relaxed.owl D-phenylalaninate|(2R)-2-amino-3-phenylpropanoate|D-phenylalanine anion owl:Class CHEBI:32504 biolink:NamedThing phenylalaninate An aromatic amino-acid anion that is the conjugate base of phenylalanine, arising from deprotonation of the carboxy group. tmpaxzxjjyw_mondo_relaxed.owl phenylalaninate|2-amino-3-phenylpropanoate|phenylalanine anion owl:Class MONDO:0022825 biolink:NamedThing congenital cystic eye tmpaxzxjjyw_mondo_relaxed.owl CCE GARD:0010617|Orphanet:519384 https://rarediseases.info.nih.gov/diseases/10617/congenital-cystic-eye owl:Class MONDO:0017090 biolink:NamedThing midline cerebral malformation tmpaxzxjjyw_mondo_relaxed.owl Midline brain malformation Orphanet:268926|ICD10:Q04.8 owl:Class MONDO:0016054 biolink:NamedThing cerebral malformation tmpaxzxjjyw_mondo_relaxed.owl brain malformation Orphanet:199633 owl:Class NCBITaxon:2508209 biolink:NamedThing Tobaniviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2499403 biolink:NamedThing Tornidovirineae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class PATO:0001404 biolink:NamedThing nucleate quality A cellular quality inhering in a bearer by virtue of bearer's number of nuclei. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001396 biolink:NamedThing cellular quality A monadic quality of continuant that exists at the cellular level of organisation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005917 biolink:NamedThing placenta disorder A disease involving the placenta. tmpaxzxjjyw_mondo_relaxed.owl disease, placenta|placenta diseases|disorders, placenta|disease or disorder of placenta|disease, placental|diseases, placental|placental diseases|disease of placenta|placental disease|placental disorder|placenta disease|diseases, placenta|placenta disorders|placenta disease or disorder|disorder, placenta|placenta disorder|disorder of placenta DOID:780|SCTID:173300003|MESH:D011248|NCIT:C26857|ICD10:O43|MESH:D010922|SCTID:125586008|GARD:0007402|ICD10:O43.90|EFO:0007441|NCIT:C34941|ICD9:656.70|ICD9:646.9|ICD10:O43.9|NCIT:C35169 owl:Class MONDO:0018068 biolink:NamedThing trisomy 13 Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. tmpaxzxjjyw_mondo_relaxed.owl D1 trisomy|Patau's syndrome|Patau syndrome|chromosome 13, trisomy 13 complete|trisomy 13|complete trisomy 13 syndrome|trisomy type 13|D trisomy syndrome (formerly) SCTID:21111006|ICD10:Q91.6|ICD10:Q91.5|GARD:0007341|ICD9:758.1|MESH:C536305|NCIT:C36529|ICD10:Q91.4|MedDRA:10044686|DOID:11665|ICD10:Q91.7|NCIT:C101223|Orphanet:3378|UMLS:C0152095|UMLS:CN204386 owl:Class MONDO:0020247 biolink:NamedThing congenital vitreoretinal dysplasia tmpaxzxjjyw_mondo_relaxed.owl vitreoretinal dysplasia Orphanet:98669|ICD10:Q14.1|ICD9:743.56|SCTID:449866003 owl:Class MONDO:0007208 biolink:NamedThing Boomerang dysplasia Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing. tmpaxzxjjyw_mondo_relaxed.owl Boomerang dysplasia|Boomerang-like skeletal dysplasia|dwarfism with short, bowed, rigid limbs and characteristic facies ICD9:756.9|OMIM:112310|ICD10:Q87.1|GARD:0000933|Orphanet:1263|UMLS:C0432201|DOID:0050680|SCTID:254054000|MESH:C536573 https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia owl:Class MONDO:0019690 biolink:NamedThing filamin-related bone disorder tmpaxzxjjyw_mondo_relaxed.owl bone filaminopathy UMLS:CN227676|Orphanet:93425 owl:Class MONDO:0008968 biolink:NamedThing cholestasis with gallstone, ataxia, and visual disturbance tmpaxzxjjyw_mondo_relaxed.owl cholestasis with gallstone, ataxia, and visual disturbance UMLS:C1859161|OMIM:214980|MESH:C565856 owl:Class UBERON:0003662 biolink:NamedThing forelimb muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003661 biolink:NamedThing limb muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016052 biolink:NamedThing carbohydrate catabolic process The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. tmpaxzxjjyw_mondo_relaxed.owl carbohydrate degradation|catabolic carbohydrate metabolic process|carbohydrate breakdown|multicellular organismal carbohydrate catabolic process|catabolic carbohydrate metabolism|single-organism carbohydrate catabolic process|carbohydrate catabolism owl:Class GO:1901575 biolink:NamedThing organic substance catabolic process The chemical reactions and pathways resulting in the breakdown of an organic substance, any molecular entity containing carbon. tmpaxzxjjyw_mondo_relaxed.owl organic molecular entity catabolism|organic substance catabolism|organic substance degradation|organic molecular entity breakdown|organic substance breakdown|organic molecular entity catabolic process|organic molecular entity degradation owl:Class MONDO:0005862 biolink:NamedThing multiple chemical sensitivity An acquired disorder characterized by recurrent symptoms, referable to multiple organ systems, occurring in response to demonstrable exposure to many chemically unrelated compounds at doses below those established in the general population to cause harmful effects. (Cullen mr. The worker with multiple chemical sensitivities: an overview. Occup Med 1987;2(4):655-61) tmpaxzxjjyw_mondo_relaxed.owl environmental illness|chemical AIDS|total allergy syndrome|idiopathic environmental illness|20th century disease EFO:0007382|UMLS:C0242992|SCTID:702772003|MESH:D018777|DOID:4661 Editor note: consider obsoletion owl:Class MONDO:0005046 biolink:NamedThing immune system disorder A disorder resulting from an abnormality in the immune system. tmpaxzxjjyw_mondo_relaxed.owl immune system disease or disorder|immune disorder|immune system disorder|disease of immune system|immune dysfunction|disorder of immune system|disease or disorder of immune system|immune disease ICD9:279|DOID:2914|MESH:D007154|ICD9:279.1|ICD9:279.49|OMIM:109100|ICD9:279.8|ICD10:D89.9|ICD9:279.10|ICD9:279.4|SCTID:414029004|MESH:D001327|NCIT:C3507|EFO:0000540|ICD9:279.19|ICD9:279.9 owl:Class CL:1000329 biolink:NamedThing tracheal goblet cell A goblet cell that is part of the epithelium of trachea. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of epithelium of trachea FMA:263075 cell owl:Class CL:0019003 biolink:NamedThing tracheobronchial goblet cell Any goblet cell that is part of the tracheobronchial epithelium. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of tracheobronchial tree 2020-05-07 18:14:52+00:00 owl:Class MONDO:0005876 biolink:NamedThing Nidovirales infectious disease Infections with viruses of the order nidovirales. The concept includes arterivirus infections and coronaviridae infections. tmpaxzxjjyw_mondo_relaxed.owl Nidovirales caused disease or disorder|Nidovirales disease or disorder MESH:D030341|UMLS:C0969753|EFO:0007396 owl:Class GO:0099738 biolink:NamedThing cell cortex region The complete extent of cell cortex that underlies some some region of the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl perimembrane region owl:Class GO:0099568 biolink:NamedThing cytoplasmic region Any (proper) part of the cytoplasm of a single cell of sufficient size to still be considered cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018550 biolink:NamedThing spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder tmpaxzxjjyw_mondo_relaxed.owl SPOAN and SPOAN-related disorder Orphanet:431320|UMLS:CN237550 owl:Class MONDO:0015358 biolink:NamedThing hereditary motor and sensory neuropathy A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-Tooth DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343) tmpaxzxjjyw_mondo_relaxed.owl HMSN MESH:D015417|ICD10:G60.0|GARD:0012685|SCTID:398100001|Orphanet:140450 owl:Class MONDO:0002010 biolink:NamedThing FG syndrome FG syndrome (FGS) is a genetic condition that affects many parts of the body and occurs almost exclusively in males. 'FG' represents the surname initials of the firstindividuals diagnosed with the disorder.People withFG syndrome frequently have intellectual disability ranging from mild to severe, hypotonia, constipation and/or anal anomalies, a distinctive facial appearance, broad thumbs and great toes,alarge head compared to body size (relative macrocephaly), and abnormalities of the corpus callosum. Medical problems including heart defects, seizures, undescended testicle, and an inguinal hernia have also been reported in some affected individuals. Researchers have identified five regions of the X chromosome that are linked to FG syndrome in affected families. Mutations in the MED12 gene appears to be the most common cause of this disorder, leading to FG syndrome 1. Other genes involved with FG syndrome include FLNA (FGS2), CASK (FGS4), UPF3B (FGS6), and BRWD3 (FGS7).FGS is inherited in an X-linked recessive pattern.Individualized early intervention and educational services are important so that each child can reach their fullest potential. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|FGS1|Opitz-Kaveggia syndrome|FGS|intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|Keller syndrome OMIM:300422|OMIM:300406|SCTID:49984004|OMIMPS:305400|OMIM:305450|UMLS:C0220769|ICD9:759.89|Orphanet:323|OMIM:300581|DOID:14711|OMIM:300321|GARD:0002317 https://rarediseases.info.nih.gov/diseases/2317/fg-syndrome owl:Class MONDO:0011703 biolink:NamedThing spongiform encephalopathy with neuropsychiatric features tmpaxzxjjyw_mondo_relaxed.owl spongiform encephalopathy with neuropsychiatric features MESH:C564678|OMIM:606688|UMLS:C1847650 owl:Class MONDO:0021354 biolink:NamedThing tumor of adipose tissue A neoplasm (disease) that involves the adipose tissue. tmpaxzxjjyw_mondo_relaxed.owl lipomatous neoplasm|lipomatous tumor|adipose tissue neoplasm|adipose tissue neoplasm (disease)|tumor of the adipose tissue|adipose tissue tumor|neoplasm of adipose tissue|tumor of adipose tissue|neoplasm of the adipose tissue NCIT:C4248|ICD9:239.2|UMLS:C0206631|SCTID:254831005 owl:Class MONDO:0002616 biolink:NamedThing mesenchymal cell neoplasm A benign, intermediate, or malignant neoplasm that arises from the mesenchyma-derived cells of the soft tissue or bone. Representative examples include lipoma, leiomyoma, leiomyosarcoma and osteosarcoma. tmpaxzxjjyw_mondo_relaxed.owl mesenchymal cell tumor|mesenchymal neoplasm|mesenchymal tumor|mesenchymal cell neoplasm|benign miscellaneous mesenchymal tumor NCIT:C7059|DOID:3350|UMLS:C1334699 owl:Class GO:0046700 biolink:NamedThing heterocycle catabolic process The chemical reactions and pathways resulting in the breakdown of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). tmpaxzxjjyw_mondo_relaxed.owl heterocycle breakdown|heterocycle degradation|heterocycle catabolism owl:Class GO:0046483 biolink:NamedThing heterocycle metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). tmpaxzxjjyw_mondo_relaxed.owl heterocycle metabolism owl:Class MONDO:0006605 biolink:NamedThing scalp dermatosis Dermotosis of scalp tmpaxzxjjyw_mondo_relaxed.owl dermatosis of scalp EFO:1000761|DOID:3136|MESH:D012536|UMLS:C0036271|SCTID:402694007 owl:Class MONDO:0005093 biolink:NamedThing skin disorder Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. tmpaxzxjjyw_mondo_relaxed.owl skin diseases and manifestations|disease of zone of skin|skin and subcutaneous tissue disease|cutaneous disorder|disorder of skin|disease or disorder of zone of skin|dermatosis|genodermatosis|disorder of zone of skin|zone of skin disease|skin disorder|zone of skin disease or disorder SCTID:95320005|DOID:37|EFO:0000701|SCTID:239001006|MESH:D012873|ICD9:702|ICD9:702.8|ICD9:709.8|NCIT:C3371|MESH:D012871 owl:Class HGNC:360 biolink:NamedThing AIRE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016971 biolink:NamedThing limb-girdle muscular dystrophy Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD. tmpaxzxjjyw_mondo_relaxed.owl Leyden-Mobius muscular dystrophy|LGMD|erb's muscular dystrophy|limb-girdle muscular dystrophy|limb girdle muscular dystrophy|Leyden-Mbius muscular dystrophy ICD10:G71.0|NCIT:C84828|SCTID:78468005|UMLS:C0270950|DOID:11724|MESH:D049288|Orphanet:263|UMLS:C0686353|GARD:0006907 https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy owl:Class GO:0035809 biolink:NamedThing regulation of urine volume Any process that modulates the amount of urine excreted from the body over a unit of time. tmpaxzxjjyw_mondo_relaxed.owl regulation of urine flow|regulation of urinary volume owl:Class GO:0003014 biolink:NamedThing renal system process A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). tmpaxzxjjyw_mondo_relaxed.owl excretory system process|kidney system process owl:Class MONDO:0014633 biolink:NamedThing myoclonic-atonic epilepsy tmpaxzxjjyw_mondo_relaxed.owl mae|myoclonic-atonic epilepsy Orphanet:1942|OMIM:616421|UMLS:C4085238 owl:Class UBERON:0006267 biolink:NamedThing notochordal plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009582 biolink:NamedThing detection of abiotic stimulus The series of events in which an (non-living) abiotic stimulus is received by a cell and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl perception of abiotic stimulus owl:Class HGNC:451 biolink:NamedThing AMACR tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14628 biolink:NamedThing CDCA7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011536 biolink:NamedThing optic atrophy 4 tmpaxzxjjyw_mondo_relaxed.owl optic atrophy 4|OPA4 OMIM:605293|DOID:0111440|Orphanet:98673|MESH:C565343|UMLS:C1854430 owl:Class MONDO:0043878 biolink:NamedThing hereditary optic atrophy A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve. tmpaxzxjjyw_mondo_relaxed.owl Atrophies, hereditary optic|hereditary optic Atrophies|optic atrophy, hereditary|atrophy, hereditary optic|hereditary optic atrophy MESH:D015418|UMLS:C0029125|OMIM:311050|OMIM:605293|OMIM:165500|NCIT:C34864|OMIM:610708|OMIM:165300|OMIM:258500|SCTID:26360005|OMIMPS:165500 owl:Class CL:0000237 biolink:NamedThing keratinizing barrier epithelial cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0000240 biolink:NamedThing stratified squamous epithelial cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0003790 biolink:NamedThing prostatic urethra urothelial carcinoma An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra. tmpaxzxjjyw_mondo_relaxed.owl prostatic urethra urothelial carcinoma UMLS:C1514522|DOID:6166|NCIT:C39900 owl:Class MONDO:0003791 biolink:NamedThing prostatic urethral cancer A male urethral cancer that involves the prostatic urethra. tmpaxzxjjyw_mondo_relaxed.owl prostatic urethra male urethral cancer|male urethral cancer of prostatic urethra|prostatic urethral malignant neoplasm DOID:6167|UMLS:C1514523|NCIT:C39870 owl:Class MONDO:0011818 biolink:NamedThing isolated focal cortical dysplasia type II tmpaxzxjjyw_mondo_relaxed.owl FCORD2|cortical dysplasia of Taylor, dysplasia only|focal cortical dysplasia of Taylor, type 2A|cortical dysplasia of Taylor with balloon cells|cortical dysplasia, Taylor type|focal cortical dysplasia of Taylor|focal cortical dysplasia of Taylor, type 2B|cortical dysplasia of Taylor without balloon cells|focal cortical dysplasia, type 2A|CDT|FCDT|isolated focal cortical dysplasia type 2|FCD 2A|Fcd2|FCD 2B|cortical dysplasia of Taylor|FCD type II|focal cortical dysplasia type 2|focal cortical dysplasia type II|focal cortical dysplasia, type 2B|focal cortical dysplasia, type 2|focal cortical dysplasia, type II Orphanet:268994|Orphanet:269008|ICD10:Q04.8|GARD:0010190|Orphanet:269001|MESH:C537067|OMIM:607341|Orphanet:65683 https://rarediseases.info.nih.gov/diseases/10190/focal-cortical-dysplasia-of-taylor owl:Class MONDO:0019009 biolink:NamedThing isolated focal cortical dysplasia Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or grey matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated. tmpaxzxjjyw_mondo_relaxed.owl epilepsy due to FCD ICD10:Q04.8|OMIM:607341|Orphanet:65683|SCTID:766710005 owl:Class MONDO:0021446 biolink:NamedThing benign neoplasm of epiglottis A benign neoplasm that involves the epiglottis. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the Epiglottis|epiglottis benign neoplasm|benign Epiglottis tumor|benign epiglottic neoplasm|benign tumor of Epiglottis|benign tumor of the Epiglottis|benign epiglottic tumor|benign Epiglottis neoplasm SCTID:92089006|UMLS:C0347236|NCIT:C4606 owl:Class MONDO:0021461 biolink:NamedThing benign neoplasm of hypopharynx A benign neoplasm that involves the hypopharynx. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the hypopharynx|benign hypopharyngeal neoplasm|benign tumor of hypopharynx|benign hypopharyngeal tumor|hypopharynx benign neoplasm|hypopharyngeal neoplasm, benign|benign tumor of the hypopharynx SCTID:92139000|ICD9:210.8|ICD10:D10.7|UMLS:C0153939|NCIT:C3596 owl:Class GO:0001671 biolink:NamedThing ATPase activator activity Binds to and increases the activity of an ATP hydrolysis activity. tmpaxzxjjyw_mondo_relaxed.owl ATPase stimulator activity owl:Class GO:0098772 biolink:NamedThing molecular function regulator A molecular function regulator regulates the activity of its target via non-covalent binding that does not result in covalent modification to the target. Examples of molecular function regulators include regulatory subunits of multimeric enzymes and channels. Mechanisms of regulation include allosteric changes in the target and competitive inhibition. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002095 biolink:NamedThing mesentery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000042 biolink:NamedThing serous membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1900372 biolink:NamedThing negative regulation of purine nucleotide biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide biosynthetic processes. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of purine nucleotide biosynthesis|down-regulation of purine nucleotide biosynthetic process|downregulation of purine nucleotide formation|down regulation of purine nucleotide anabolism|downregulation of purine nucleotide biosynthesis|inhibition of purine nucleotide biosynthesis|down-regulation of purine nucleotide biosynthesis|inhibition of purine nucleotide biosynthetic process|inhibition of purine nucleotide formation|downregulation of purine nucleotide biosynthetic process|down-regulation of purine nucleotide synthesis|downregulation of purine nucleotide synthesis|inhibition of purine nucleotide anabolism|negative regulation of purine nucleotide formation|down-regulation of purine nucleotide anabolism|inhibition of purine nucleotide synthesis|down regulation of purine nucleotide synthesis|down regulation of purine nucleotide biosynthesis|negative regulation of purine nucleotide anabolism|down-regulation of purine nucleotide formation|negative regulation of purine nucleotide synthesis|down regulation of purine nucleotide biosynthetic process|downregulation of purine nucleotide anabolism|down regulation of purine nucleotide formation owl:Class GO:0030809 biolink:NamedThing negative regulation of nucleotide biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of nucleotide biosynthetic process|negative regulation of nucleotide biosynthesis|downregulation of nucleotide biosynthetic process|negative regulation of nucleotide anabolism|negative regulation of nucleotide formation|down regulation of nucleotide biosynthetic process|negative regulation of nucleotide synthesis|inhibition of nucleotide biosynthetic process owl:Class GO:0045618 biolink:NamedThing positive regulation of keratinocyte differentiation Any process that activates or increases the frequency, rate or extent of keratinocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl upregulation of keratinocyte differentiation|up regulation of keratinocyte differentiation|activation of keratinocyte differentiation|up-regulation of keratinocyte differentiation|stimulation of keratinocyte differentiation owl:Class HP:0002653 biolink:NamedThing Bone pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. tmpaxzxjjyw_mondo_relaxed.owl Bone pain SNOMEDCT_US:12584003|UMLS:C0151825 human_phenotype owl:Class MONDO:0007810 biolink:NamedThing autosomal dominant ichthyosis vulgaris Ichthyosis vulgaris is a common skin disorder passed down through families that leads to dry, scaly skin. It often begins in early childhood. Treatment may include heavy duty moisturizers which contain chemicals that help the skin to shed normally, including lactic acid, salicylic acid, and urea. Ichthyosis vulgaris can be a nuisance, but it rarely affects overall health. The condition usually disappears during adulthood, but may return in later years. This condition is inherited in an autosomal dominant pattern. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant ichthyosis vulgaris|ichthyosis vulgaris|dominant ichthyosis vulgaris|ichthyosis simplex|ichthyosis vulgaris, autosomal dominant|dominant congenital ichthyosiform erythroderma 2022-04-01 DOID:1702|OMIM:146700|Orphanet:462|MESH:D016112|ICD10:Q80.0|UMLS:C0079584|GARD:0001897|SCTID:254157005|NCIT:C84778 Reason: duplicate. This will be merged with MONDO_0007810 autosomal dominant ichthyosis vulgaris https://github.com/monarch-initiative/mondo/issues/4293 owl:Class GO:2000145 biolink:NamedThing regulation of cell motility Any process that modulates the frequency, rate or extent of cell motility. tmpaxzxjjyw_mondo_relaxed.owl regulation of movement of a cell|regulation of cell movement|regulation of cell locomotion owl:Class GO:0040012 biolink:NamedThing regulation of locomotion Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003172 biolink:NamedThing glomeruloid hemangioma tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27505|UMLS:C1304511|DOID:486|SCTID:403976007 owl:Class UBERON:0010699 biolink:NamedThing manual digit metacarpus cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035128 biolink:NamedThing manus cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0099106 biolink:NamedThing ion channel regulator activity Modulates the activity of a channel via direct interaction with it. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016247 biolink:NamedThing channel regulator activity Bonds to and modulates the activity of a channel. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21365 biolink:NamedThing LYRM4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003490 biolink:NamedThing ampulla of vater squamous cell carcinoma A carcinoma with squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. tmpaxzxjjyw_mondo_relaxed.owl hepatopancreatic ampulla squamous cell carcinoma|ampulla of Vater squamous cell carcinoma DOID:5527|UMLS:C1332251|NCIT:C27417 owl:Class MONDO:0006203 biolink:NamedThing extrahepatic bile duct squamous cell carcinoma A carcinoma that arises from the extrahepatic bile ducts. It is composed entirely by malignant squamous epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of the bile duct|extrahepatic bile duct squamous cell carcinoma|squamous cell bile duct carcinoma|squamous cell carcinoma of bile duct|bile duct squamous cell carcinoma UMLS:C0861861|EFO:1000248|NCIT:C5777 owl:Class UBERON:0003050 biolink:NamedThing olfactory placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009955 biolink:NamedThing neurogenic placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033549 biolink:NamedThing optic atrophy 12 tmpaxzxjjyw_mondo_relaxed.owl OPA12|OPTIC ATROPHY 12 OMIM:618977 owl:Class GO:0001227 biolink:NamedThing DNA-binding transcription repressor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. tmpaxzxjjyw_mondo_relaxed.owl metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in negative regulation of transcription|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity involved in negative regulation of transcription|transcriptional repressor activity, metal ion regulated sequence-specific DNA binding|transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding|RNA polymerase II transcriptional repressor activity, metal ion regulated core promoter proximal region sequence-specific binding|RNA polymerase II transcriptional repressor activity, metal ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II distal enhancer sequence-specific DNA-binding transcription factor activity involved in negative regulation of transcription|transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding|proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific|transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding|distal enhancer DNA-binding transcription repressor activity, RNA polymerase II-specific|metal ion regulated sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription owl:Class GO:0140110 biolink:NamedThing transcription regulator activity A molecular function that controls the rate, timing and/or magnitude of gene transcription. The function of transcriptional regulators is to modulate gene expression at the transcription step so that they are expressed in the right cell at the right time and in the right amount throughout the life of the cell and the organism. Genes are transcriptional units, and include bacterial operons. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003927 biolink:NamedThing posterior uveal melanoma tmpaxzxjjyw_mondo_relaxed.owl small size posterior uveal melanoma|medium/large size posterior uveal melanoma DOID:6566|NCIT:C9089|UMLS:C0278867|UMLS:C0278868|NCIT:C9090 owl:Class UBERON:0001470 biolink:NamedThing glenohumeral joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011139 biolink:NamedThing synovial limb joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020438 biolink:NamedThing atrial septal aneurysm tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99107|UMLS:C0521533|SCTID:95440004|ICD10:Q21.1 owl:Class MONDO:0020294 biolink:NamedThing atrial defect and interatrial communication tmpaxzxjjyw_mondo_relaxed.owl rare atrial defect and interatrial communication|atrial defect and interauricular communication ICD10:Q21.1|Orphanet:98727 owl:Class GO:0032729 biolink:NamedThing positive regulation of interferon-gamma production Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of interferon-gamma secretion|positive regulation of interferon-gamma biosynthetic process|positive regulation of type II interferon production|upregulation of interferon-gamma production|up-regulation of interferon-gamma production|up regulation of interferon-gamma production|stimulation of interferon-gamma production|activation of interferon-gamma production owl:Class GO:0032649 biolink:NamedThing regulation of interferon-gamma production Any process that modulates the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. tmpaxzxjjyw_mondo_relaxed.owl regulation of interferon-gamma biosynthetic process|regulation of type II interferon production|regulation of interferon-gamma secretion owl:Class MONDO:0008468 biolink:NamedThing spondyloarthropathy, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl SPDA2|spondyloarthropathy, susceptibility to, 2 UMLS:C1866738|OMIM:183840|DOID:0080604 owl:Class MONDO:0024512 biolink:NamedThing spondyloarthropathy, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl SPDA UMLS:CN118840|OMIMPS:106300 owl:Class MONDO:0012161 biolink:NamedThing susceptibility to respiratory infections associated with CD8alpha chain mutation Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes. tmpaxzxjjyw_mondo_relaxed.owl CD8 deficiency, familial|familial CD8 deficiency|susceptibility to respiratory infections associated with CD8alpha chain mutation SCTID:766983005|OMIM:608957|ICD10:D84.8|MESH:C563824|Orphanet:169085|UMLS:C1837065 owl:Class MONDO:0018814 biolink:NamedThing non-SCID combined immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl non-SCID|non-severe combined immunodeficiency Orphanet:480549 https://github.com/monarch-initiative/mondo/issues/711 owl:Class GO:0031406 biolink:NamedThing carboxylic acid binding Binding to a carboxylic acid, an organic acid containing one or more carboxyl (COOH) groups or anions (COO-). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043168 biolink:NamedThing anion binding Binding to an anion, a charged atom or group of atoms with a net negative charge. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030001 biolink:NamedThing metal ion transport The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl heavy metal ion transport|divalent metal ion transport owl:Class GO:0006812 biolink:NamedThing cation transport The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl trivalent inorganic cation transport|di-, tri-valent inorganic cation transport owl:Class MONDO:0011843 biolink:NamedThing hypertrophic cardiomyopathy 25 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TCAP gene. tmpaxzxjjyw_mondo_relaxed.owl Tcap hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, type 25|CMH25|hypertrophic cardiomyopathy caused by mutation in Tcap|hypertrophic cardiomyopathy type 25|hypertrophic cardiomyopathy caused by mutation in TCAP|cardiomyopathy familial hypertrophic 25|cardiomyopathy, familial hypertrophic, 25|TCAP hypertrophic cardiomyopathy OMIM:607487|UMLS:C1843791|MESH:C564388|DOID:0110328 owl:Class MONDO:0016333 biolink:NamedThing familial dilated cardiomyopathy A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure. tmpaxzxjjyw_mondo_relaxed.owl hereditary dilated cardiomyopathy|dilated cardiomyopathy, familial|hypokinetic dilated cardiomyopathy, familial|DCM|idiopathic dilated cardiomyopathy GARD:0000221|Orphanet:217607|OMIMPS:115200|UMLS:C0340427|ICD10:I42.0|GARD:0002905|MESH:C536231|Orphanet:217604 Editor note: unsure if GARD is familial form owl:Class OBO:CHR_9606-chr13 biolink:NamedThing chromosome 13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 13 114364328 0 hg38 owl:Class GO:0000228 biolink:NamedThing nuclear chromosome A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. tmpaxzxjjyw_mondo_relaxed.owl nuclear interphase chromosome owl:Class UBERON:0035403 biolink:NamedThing hypophysial artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001637 biolink:NamedThing artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005452 biolink:NamedThing bulimia nervosa A disorder characterized by recurrent episodes of binge-eating over which the individual feels a lack of control; these episodes of binge-eating are followed by recurrent compensatory behavior to prevent weight gain, usually self-induced vomiting. In addition, self-evaluation is unduly influenced by body image. tmpaxzxjjyw_mondo_relaxed.owl bulimia|hyperorexia nervosa DOID:12129|NCIT:C97162|EFO:0005204|MESH:D002032|ICD10:F50.2|ICD9:307.51|NCIT:C34440|OMIM:610269|MESH:D052018|OMIM:607499|SCTID:78004001 owl:Class MONDO:0005451 biolink:NamedThing eating disorder A broad group of psychological disorders with abnormal eating behaviors leading to physiological effects from overeating or insufficient food intake. tmpaxzxjjyw_mondo_relaxed.owl eating disorder|feeding and eating disorder SCTID:72366004|ICD9:307.50|ICD9:307.59|NCIT:C89332|EFO:0005203|ICD10:F50|DOID:8670|ICD10:F50.9 owl:Class MONDO:0016211 biolink:NamedThing non-papillary transitional cell carcinoma of the bladder tmpaxzxjjyw_mondo_relaxed.owl non-papillary urothelial carcinoma Orphanet:209989|ICD10:C67.6|ICD10:C67.4|UMLS:CN200968|ICD10:C67.7|ICD10:C67.3|ICD10:C67.9|ICD10:C67.5|ICD10:C67.8|ICD10:C67.0|ICD10:C67.2|ICD10:C67.1 owl:Class MONDO:0040679 biolink:NamedThing urothelial carcinoma A malignant neoplasm derived from the transitional epithelium of the urinary tract (urinary bladder, ureter, urethra, or renal pelvis). It is frequently papillary. tmpaxzxjjyw_mondo_relaxed.owl Uroepithelial carcinoma|transitional cell carcinoma of the urinary tract|transitional cell car. -uroth.|transitional cell carcinoma of the urothelial tract|urothelial carcinoma EFO:0008528|NCIT:C4030|UMLS:C2145472 owl:Class MONDO:0018327 biolink:NamedThing glomus tumor A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities. tmpaxzxjjyw_mondo_relaxed.owl glomus tumor|glomus tumour|glomus neoplasm MESH:D005918|DOID:2431|ICD9:239.7|NCIT:C3060|UMLS:C0017653|SCTID:403969002|ICDO:8711/0|Orphanet:391651|ICD10:D18.0 owl:Class MONDO:0021507 biolink:NamedThing benign neoplasm of brain stem A benign neoplasm that involves the brainstem. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of the brainstem|benign brainstem tumors|benign neoplasm of the brainstem|benign tumor of brainstem|benign tumor of the brain stem|benign tumor of brain stem|benign neoplasm of the brain stem|benign neoplasm of brainstem|benign neoplasms of the brainstem|benign tumors of the brainstem|benign tumors of brainstem|benign neoplasms of brainstem|benign brainstem tumor|benign brainstem neoplasms|benign brainstem neoplasm|benign brain stem tumor|brainstem benign neoplasm|benign brain stem neoplasm|benign brain stem neoplasms UMLS:C0686400|NCIT:C8549|SCTID:92029009 owl:Class MONDO:0021228 biolink:NamedThing brainstem neoplasm A neoplasm (disease) that involves the brainstem. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of brainstem|tumor of brain stem|neoplasm of brain stem|tumor of the brain stem|tumor of the brainstem|neoplasm of the brain stem|neoplasm of the brainstem|tumor of brainstem|Brain stem neoplasm|brainstem tumor|brain stem tumor|brainstem neoplasm (disease) Orphanet:36414|NCIT:C4869 owl:Class ENVO:01001084 biolink:NamedThing particulate matter formation process A process during which microscopic solid or liquid objects are formed. tmpaxzxjjyw_mondo_relaxed.owl particle formation owl:Class ENVO:03000043 biolink:NamedThing material transformation process A process during which a portion of some environmental material is converted into a different material or a collection of materials. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006568 biolink:NamedThing hypothalamic nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006569 biolink:NamedThing diencephalic nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010562 biolink:NamedThing colonic atresia Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns. tmpaxzxjjyw_mondo_relaxed.owl colonic atresia (disease)|atresia of colon|colonic atresia|congenital atresia of colon|colon atresia colonic atresia (disease) ICD10:Q42.9|OMIM:303650|NCIT:C101024|MESH:C562562|GARD:0001446|HP:0010448|SCTID:37054000|Orphanet:1198 owl:Class MONDO:0015211 biolink:NamedThing non-syndromic intestinal malformation A intestinal malformation that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl isolated intestinal malformation|nonsyndromic intestinal malformation Orphanet:108967 owl:Class CHEBI:48001 biolink:NamedThing protein synthesis inhibitor A compound, usually an anti-bacterial agent or a toxin, which inhibits the synthesis of a protein. tmpaxzxjjyw_mondo_relaxed.owl protein synthesis inhibitors|protein synthesis antagonist|protein synthesis antagonists owl:Class CHEBI:76932 biolink:NamedThing pathway inhibitor An enzyme inhibitor that interferes with one or more steps in a metabolic pathway. tmpaxzxjjyw_mondo_relaxed.owl metabolic pathway inhibitor|pathway inhibitors|metabolic pathway inhibitors owl:Class HGNC:1938 biolink:NamedThing CHKB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003950 biolink:NamedThing nipple carcinoma A carcinoma that arises from epithelial cells of the nipple tmpaxzxjjyw_mondo_relaxed.owl carcinoma of nipple|nipple cancer|nipple carcinoma DOID:6629|NCIT:C28432|UMLS:C1334966 owl:Class MONDO:0004989 biolink:NamedThing breast carcinoma A carcinoma that arises from epithelial cells of the breast tmpaxzxjjyw_mondo_relaxed.owl breast cancer|cancer of breast|breast cancer, NOS|carcinoma of the breast|carcinoma of breast|cancer of the breast|mammary carcinoma|cancer, breast|breast carcinoma EFO:0000305|DOID:3459|NCIT:C4872|MESH:D001943|UMLS:C0678222|SCTID:254838004 owl:Class MONDO:0033682 biolink:NamedThing skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:508533 owl:Class MONDO:0021960 biolink:NamedThing ureteritis An acute or chronic inflammatory process affecting the ureter. tmpaxzxjjyw_mondo_relaxed.owl Ureteritis|Inflammation of ureter|ureteritis SCTID:111405003|UMLS:C0041959|NCIT:C78666 owl:Class MONDO:0001926 biolink:NamedThing ureteral disorder A non-neoplastic or neoplastic disorder affecting the ureter. tmpaxzxjjyw_mondo_relaxed.owl ureteric disorder|disease of ureter|ureter disease or disorder|disorder of ureter|disease or disorder of ureter|ureteric disease|ureter disorder|ureter disease NCIT:C27148|MESH:D014515|UMLS:C0403608|UMLS:C0041954|DOID:1426|SCTID:128073008 owl:Class GO:0070257 biolink:NamedThing positive regulation of mucus secretion Any process that activates or increases the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of mucus production owl:Class GO:0051047 biolink:NamedThing positive regulation of secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. tmpaxzxjjyw_mondo_relaxed.owl stimulation of secretion|up regulation of secretion|up-regulation of secretion|upregulation of secretion|activation of secretion owl:Class UBERON:0003684 biolink:NamedThing abdominal cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000464 biolink:NamedThing anatomical space tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008482 biolink:NamedThing sulfite oxidase activity Catalysis of the reaction: H(2)O + O(2) + sulfite = H(2)O(2) + H(+) + sulfate. tmpaxzxjjyw_mondo_relaxed.owl sulfite:oxygen oxidoreductase activity|sulphite oxidase activity owl:Class GO:0016670 biolink:NamedThing oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces oxygen. tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase activity, acting on sulphur group of donors, oxygen as acceptor owl:Class GO:1900078 biolink:NamedThing positive regulation of cellular response to insulin stimulus Any process that activates or increases the frequency, rate or extent of cellular response to insulin stimulus. tmpaxzxjjyw_mondo_relaxed.owl upregulation of cellular response to insulin stimulus|up regulation of cellular response to insulin stimulus|up-regulation of cellular response to insulin stimulus|activation of cellular response to insulin stimulus owl:Class GO:0048522 biolink:NamedThing positive regulation of cellular process Any process that activates or increases the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cellular physiological process|upregulation of cellular process|up-regulation of cellular process|stimulation of cellular process|activation of cellular process|up regulation of cellular process owl:Class GO:1902490 biolink:NamedThing regulation of sperm capacitation Any process that modulates the frequency, rate or extent of sperm capacitation. tmpaxzxjjyw_mondo_relaxed.owl regulation of sperm activation owl:Class MONDO:0001192 biolink:NamedThing esophageal melanoma A melanoma affecting the esophageal wall. Melanoma in the esophagus is more commonly metastatic than primary. Primary melanomas of the esophagus are polypoid and clinically aggressive. (WHO, 2000) tmpaxzxjjyw_mondo_relaxed.owl esophageal melanoma|melanoma (disease) of esophagus|esophagus melanoma (disease)|esophagus melanoma|melanoma of the esophagus|mucosal melanoma of the esophagus|melanoma of esophagus ONCOTREE:ESMM|NCIT:C5707|DOID:1108|UMLS:C1333460 owl:Class MONDO:0005105 biolink:NamedThing melanoma A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. tmpaxzxjjyw_mondo_relaxed.owl melanoma|Naevocarcinoma|malignant melanoma|melanoma, malignant|melanoma (disease) melanoma (disease) KEGG:05218|Orphanet:411533|UMLS:C0025202|OMIM:155600|ICDO:8720/3|NCIT:C3224|SCTID:372244006|UMLS:CN971653|MESH:D008545|OMIM:155755|ONCOTREE:MEL|EFO:0000756|HP:0002861|DOID:1909 owl:Class MONDO:0019664 biolink:NamedThing short rib-polydactyly syndrome, Verma-Naumoff type Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome, characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, anormal clocal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period. tmpaxzxjjyw_mondo_relaxed.owl short rib polydactyly syndrome Verma Naumoff type|Verma Naumoff syndrome|short rib-polydactyly syndrome type 3|polydactyly with neonatal chondrodystrophy type III|SRPS type 3|short rib-polydactyly syndrome type III Orphanet:93271|OMIM:614091|ICD10:Q77.2|GARD:0004835|MESH:C537602|UMLS:C0432197|OMIM:613091|ICD9:759.89|OMIM:615503|OMIM:615633|SCTID:254051008 owl:Class MONDO:0015246 biolink:NamedThing syndromic anorectal malformation A anorectal malformation that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with anorectal malformation|syndromic anorectal malformation Orphanet:117573|UMLS:CN226645 owl:Class MONDO:0033362 biolink:NamedThing developmental and epileptic encephalopathy, 53 tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 53|DEE53|EIEE53 Orphanet:1934|UMLS:C4479313|OMIM:617389|DOID:0080464 owl:Class MONDO:0019828 biolink:NamedThing pituitary stalk interruption syndrome Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk. tmpaxzxjjyw_mondo_relaxed.owl PSIS|ectopic neurohypophysis|hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary GARD:0013209|UMLS:C4053775|UMLS:CN206776|Orphanet:95496|ICD10:E23.6|SCTID:715727009|NCIT:C121150 https://rarediseases.info.nih.gov/diseases/13209/pituitary-stalk-interruption-syndrome owl:Class MONDO:0019824 biolink:NamedThing non-acquired pituitary hormone deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:95488|ICD10:E23.0 Editor note: consider merging with familial hypopituitarism owl:Class MONDO:0021159 biolink:NamedThing gonococcal salpingitis An salpingitis caused by infection with Neisseria gonorrhoeae. tmpaxzxjjyw_mondo_relaxed.owl Neisseria gonorrhoeae caused salpingitis|Neisseria gonorrhoeae salpingitis UMLS:C0341811|SCTID:237038001 owl:Class MONDO:0003619 biolink:NamedThing salpingitis Acute or chronic inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube inflammation|inflammation of fallopian tube DOID:5733|NCIT:C26880|ICD10:N70.91|MESH:D012488|SCTID:88157006|UMLS:C0036130 owl:Class UBERON:0005562 biolink:NamedThing thymus primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014716 biolink:NamedThing interlobular duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035050 biolink:NamedThing excretory duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002669 biolink:NamedThing ampullary signet ring cell adenocarcinoma An adenocarcinoma arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucin-containing signet-ring cells. tmpaxzxjjyw_mondo_relaxed.owl ampullary signet Ring cell carcinoma|ampulla of Vater signet Ring cell carcinoma|ampullary signet ring cell carcinoma NCIT:C6656|UMLS:C1332249|DOID:3501 owl:Class MONDO:0002670 biolink:NamedThing ampulla of vater adenocarcinoma A carcinoma that arises from glandular epithelial cells of the hepatopancreatic ampulla tmpaxzxjjyw_mondo_relaxed.owl invasive adenocarcinoma of the ampullary region|hepatopancreatic ampulla adenocarcinoma|adenocarcinoma of ampulla of vater|adenocarcinoma of ampulla of Vater|ampullary adenocarcinoma|ampulla of Vater adenocarcinoma EFO:0008490|DOID:3502|NCIT:C6650|UMLS:C1332243 owl:Class GO:1901564 biolink:NamedThing organonitrogen compound metabolic process The chemical reactions and pathways involving organonitrogen compound. tmpaxzxjjyw_mondo_relaxed.owl organonitrogen compound metabolism owl:Class GO:0071704 biolink:NamedThing organic substance metabolic process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. tmpaxzxjjyw_mondo_relaxed.owl organic substance metabolism|organic molecular entity metabolism|organic molecular entity metabolic process owl:Class GO:0016814 biolink:NamedThing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amidine, a compound of the form R-C(=NH)-NH2. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016810 biolink:NamedThing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds Catalysis of the hydrolysis of any carbon-nitrogen bond, C-N, with the exception of peptide bonds. tmpaxzxjjyw_mondo_relaxed.owl hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in other compounds owl:Class UBERON:0005113 biolink:NamedThing metanephric cortex mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004120 biolink:NamedThing mesoderm-derived structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903337 biolink:NamedThing positive regulation of vacuolar transport Any process that activates or increases the frequency, rate or extent of vacuolar transport. tmpaxzxjjyw_mondo_relaxed.owl upregulation of vacuolar transport|up-regulation of vacuolar transport|activation of vacuolar transport|up regulation of vacuolar transport owl:Class GO:0051050 biolink:NamedThing positive regulation of transport Any process that activates or increases the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl upregulation of transport|stimulation of transport|up-regulation of transport|up regulation of transport|activation of transport owl:Class GO:0003015 biolink:NamedThing heart process A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. tmpaxzxjjyw_mondo_relaxed.owl cardiac process owl:Class GO:0003013 biolink:NamedThing circulatory system process A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:86661 biolink:NamedThing Bacillus cereus group tmpaxzxjjyw_mondo_relaxed.owl PMID:23475340|GC_ID:11|PMID:26373441|PMID:1715736 ncbi_taxonomy owl:Class NCBITaxon:1386 biolink:NamedThing Bacillus tmpaxzxjjyw_mondo_relaxed.owl Bacillus|Bacillus rRNA group 1 PMID:23475340|PMID:11491334|GC_ID:11|PMID:2223602|PMID:10843090|PMID:1742196|PMID:7727277|PMID:8863420|PMID:8138135 ncbi_taxonomy owl:Class MONDO:0005800 biolink:NamedThing hordeolum An acute, localized swelling of the eyelid that may be external or internal and usually is a pyogenic (typically staphylococcal) infection or abscess. tmpaxzxjjyw_mondo_relaxed.owl blepharitis of eyelid gland|eyelid gland blepharitis|boil of eyelid|Stye|furuncle of eyelid SCTID:1489008|DOID:9909|MESH:D006726|UMLS:C0019917|ICD10:H00.01|NCIT:C118722|EFO:0007315|SCTID:397513003 owl:Class MONDO:0004785 biolink:NamedThing blepharitis Inflammation of the eyelids near the eyelashes. tmpaxzxjjyw_mondo_relaxed.owl eyelid inflammation|inflammation of eyelid ICD9:373.8|ICD10:H01.0|ICD9:373.9|MESH:D001762|ICD10:H01.00|ICD9:373.0|ICD9:373.00|NCIT:C112183|ICD10:H01.9|UMLS:C0005741|ICD9:373.4|DOID:9423|SCTID:41446000 owl:Class UBERON:0002374 biolink:NamedThing metacarpal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015042 biolink:NamedThing manual digit metacarpus endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012452 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 65 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3. tmpaxzxjjyw_mondo_relaxed.owl DFNB65|autosomal recessive deafness 65|autosomal recessive nonsyndromic deafness type 65|autosomal recessive nonsyndromic deafness 65|deafness, autosomal recessive 65 OMIM:610248|MESH:C565211|DOID:0110516|ICD10:H90.3|UMLS:C1853248 owl:Class MONDO:0019588 biolink:NamedThing hearing loss, autosomal recessive Autosomal recessive form of nonsyndromic deafness. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive isolated sensorineural deafness type DFNB|autosomal recessive non-syndromic sensorineural deafness type DFNB|deafness, neurosensory nonsyndromic recessive, DFN|deafness, autosomal recessive|autosomal recessive nonsyndromic genetic deafness|autosomal recessive nonsyndromic deafness|nonsyndromic genetic deafness, autosomal recessive|nonsyndromic deafness, autosomal recessive|autosomal recessive non-syndromic neurosensory deafness type DFNB|autosomal recessive isolated neurosensory deafness type DFNB OMIM:613718|OMIM:603010|OMIM:613685|OMIM:601869|OMIM:608653|OMIM:607084|OMIM:220290|OMIM:614035|OMIM:616042|ICD10:H90.3|OMIM:614945|OMIM:610265|OMIM:605428|OMIM:612645|OMIM:613285|OMIM:609706|OMIM:609647|UMLS:CN206424|OMIM:612789|OMIM:614617|OMIM:609946|OMIM:614861|OMIM:612433|OMIM:607039|OMIM:610419|OMIM:600971|OMIM:615429|MESH:C564609|OMIM:609533|Orphanet:90635|OMIM:605818|OMIM:607239|OMIM:614934|OMIM:607101|OMIM:609941|UMLS:C1846647|OMIM:615974|OMIM:614414|OMIM:602092|OMIM:613865|OMIM:610143|OMIM:610248|OMIM:600060|OMIM:600791|OMIM:603098|OMIM:614944|OMIM:604060|OMIM:609006|OMIM:608265|OMIM:616705|OMIM:608264|OMIM:613307|OMIM:613079|GARD:0001710|OMIM:614899|OMIM:600974|OMIM:603720|OMIM:601386|OMIM:607821|OMIM:609952|OMIM:608219|OMIM:616515|OMIM:609823|OMIM:600316|OMIM:613391|OMIM:609439|OMIMPS:220290|OMIM:601072|OMIM:613453|OMIM:601071|OMIM:607197|OMIM:616958|OMIM:615540|OMIM:609646|OMIM:611022|OMIM:610220|OMIM:613392|OMIM:611451|OMIM:615837|OMIM:610212|OMIM:613916|OMIM:608565|OMIM:610153|Orphanet:90636|OMIM:603629|DOID:0050565|OMIM:603678|OMIM:610154|OMIM:600792 owl:Class MONDO:0007761 biolink:NamedThing hyperlipoproteinemia type IV A laboratory test result indicating an autosomal dominant condition in which there is increased very low density lipoprotein production, which leads to increased triglyceride concentration. tmpaxzxjjyw_mondo_relaxed.owl endogenous hyperlipidaemia|VLDL hyperlipoproteinemia|hyperlipoproteinemia type 4|Fredrickson type IV Lipidemia|carbohydrate-inducible hyperlipemia|hyperlipoproteinemia, type IV|hyperlipoproteinemia, type 4|Fredrickson type IV lipidaemia|familial type IV hyperlipoproteinemia|familial hypertriglyceridemia|Fredrickson type IV hyperlipoproteinemia|carbohydrate inducible hyperlipemia DOID:1172|ICD10:E78.1|NCIT:C34711|ICD9:272.1|Orphanet:413|OMIM:145750|OMIM:144600|MESH:D006953|SCTID:238085009|GARD:0006418|UMLS:CN074246 https://rarediseases.info.nih.gov/diseases/6418/hyperlipoproteinemia-type-4 owl:Class MONDO:0001336 biolink:NamedThing familial hyperlipidemia An instance of hyperlipidemia (disease) that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hyperlipemia|familial hyperlipoproteinemia|familial hyperlipemia|hyperlipidaemia|hereditary hyperlipidemia (disease) DOID:1168|NCIT:C34707|ICD10:E78.5 Editor note: consider merging owl:Class CHEBI:33433 biolink:NamedThing monoatomic halogen tmpaxzxjjyw_mondo_relaxed.owl monoatomic halogens owl:Class CHEBI:33238 biolink:NamedThing monoatomic entity A monoatomic entity is a molecular entity consisting of a single atom. tmpaxzxjjyw_mondo_relaxed.owl atomic entity|monoatomic entities owl:Class MONDO:0000763 biolink:NamedThing epithelial and subepithelial corneal dystrophy tmpaxzxjjyw_mondo_relaxed.owl epithelial and subepithelial dystrophy DOID:0060440 owl:Class MONDO:0018102 biolink:NamedThing corneal dystrophy The term corneal dystrophy embraces a heterogeneous group of bilateral genetically determined non-inflammatory corneal diseases that are usually restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. tmpaxzxjjyw_mondo_relaxed.owl corneal dystrophy|corneal dystrophy (disease) corneal dystrophy (disease) MESH:D003317|DOID:2566|ICD9:371.5|ICD9:371.50|ICD10:H18.5|ICD10:H18.50|NCIT:C34513|Orphanet:34533|UMLS:C0010036|HP:0001131|MedDRA:10011005|SCTID:5587004 Editor note: NCIT distinguishes between acquired and genetic owl:Class MONDO:0054743 biolink:NamedThing polycystic liver disease 3 with or without kidney cysts Any polycystic kidney disease in which the cause of the disease is a mutation in the ALG8 gene, that presents with or without kidney cysts. tmpaxzxjjyw_mondo_relaxed.owl PCLD3|polycystic liver disease 3 with or without kidney cysts UMLS:CN818986|OMIM:617874 owl:Class MONDO:0000447 biolink:NamedThing autosomal dominant polycystic liver disease An autosomal dominant inherited condition characterized by many cysts of various sizes scattered throughout the liver. tmpaxzxjjyw_mondo_relaxed.owl isolated congenital polycystic liver disease|congenital hepatic cyst|ADPLD|PCLD|fibrocystic liver disease|polycystic liver disease|congenital cystic liver disease|AD polycystic liver disease|isolated polycystic liver disease OMIM:174050|SCTID:72925005|Orphanet:2924|MedDRA:10010427|MedDRA:10083939|MedDRA:10048834|OMIMPS:174050|GARD:0009457|UMLS:C0158683|HP:0006557|ICD10:Q44.6|DOID:0050770|ICD9:751.62|NCIT:C82833 https://rarediseases.info.nih.gov/diseases/9457/polycystic-liver-disease owl:Class GO:2001235 biolink:NamedThing positive regulation of apoptotic signaling pathway Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of apoptotic signalling pathway owl:Class MONDO:0018479 biolink:NamedThing congenital adrenal hyperplasia Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. tmpaxzxjjyw_mondo_relaxed.owl adrenogenital disorder|lipoid CAH|congenital lipoid adrenal hyperplasia|CAH|congenital adrenal gland hyperplasia|adrenogenital syndrome|adrenal hyperplasia|adrenal hyperplasia, congenital UMLS:C0701163|OMIM:201810|OMIM:202010|SCTID:237751000|MESH:D000312|OMIM:202110|NCIT:C34360|ICD9:255.2|MedDRA:10010323|OMIM:201910|Orphanet:418|DOID:0050811|OMIM:613571|GARD:0001467|ICD10:E25.0|ICD10:E25|UMLS:C0001627|ICD10:E25.9|OMIM:201710 owl:Class MONDO:0015514 biolink:NamedThing genetic endocrine growth disease tmpaxzxjjyw_mondo_relaxed.owl growth disorder MESH:D006130|UMLS:CN237424|Orphanet:156643 owl:Class MONDO:0018683 biolink:NamedThing acquired ichthyosis Noninherited ichthyosis associated with malignancy; autoimmune, inflammatory, nutritional, metabolic, infectious, and neurologic diseases; or medications. tmpaxzxjjyw_mondo_relaxed.owl ichthyosis, acquired|acquired ichthyosis (disease)|fish scale disease, acquired|acquired ichthyosis|ichthyosis acquisita NCIT:C112831|SCTID:8691004|MESH:C538175|GARD:0000476|ICD10:L85.0|Orphanet:454 https://github.com/monarch-initiative/mondo/issues/2114|https://rarediseases.info.nih.gov/diseases/476/ichthyosis-acquired owl:Class MONDO:0019269 biolink:NamedThing ichthyosis Disorders of cornification that are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, affect most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different genes important for keratinocyte differentiation and epidermal barrier function. Acquired forms of ichthyosis can be observed with certain autoimmune, inflammatory, metabolic, endocrine, or infectious diseases or with malignancies. tmpaxzxjjyw_mondo_relaxed.owl ichthyoses|DOC|fish scale disease|ichthyosis|ichthyosis (disease)|fish skin disease|disorder of cornification|non-syndromic ichthyosis ichthyosis (disease) DOID:1697|HP:0008064|Orphanet:79354|UMLS:C0020757|MedDRA:10021198|NCIT:C84776|MESH:D007057 Epidermal keratinocytes undergo a unique form of terminal differentiation and programmed cell death known as cornification. Cornification leads to the formation of the outermost skin barrier, i.e. the cornified layer, as well as to the formation of hair and nails. https://github.com/monarch-initiative/mondo/issues/2114|https://github.com/monarch-initiative/mondo/pull/2110 owl:Class MONDO:0007073 biolink:NamedThing hypoglossia-hypodactyly syndrome Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl peromelia with micrognathism|aglossia-adactylia|Hanhart syndrome|aglossia adactylia|hypoglossia-hypodactylia syndrome|aglossia-adactylia syndrome|hypoglossia-hypodactylia|Jussieu syndrome|oromandibular limb hypoplasia|peromelia with micrognathia ICD10:Q87.2|SCTID:35031005|Orphanet:989|ICD9:759.89|GARD:0000068|OMIM:103300 owl:Class MONDO:0017432 biolink:NamedThing syndrome with limb reduction defects tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN203180|Orphanet:294955 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0013541 biolink:NamedThing complex cortical dysplasia with other brain malformations 1 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene. tmpaxzxjjyw_mondo_relaxed.owl cortical dysplasia, complex, with other brain malformations 1|cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation|CDCBM1|complex cortical dysplasia with other brain malformations caused by mutation in TUBB3|cortical dysplasia, Complex, with Other brain malformations type 1|complex cortical dysplasia with other brain malformations type 1|TUBB3 complex cortical dysplasia with other brain malformations OMIM:614039|ICD10:Q04.3|DOID:0090137|GARD:0013032|Orphanet:300570|UMLS:CN203402 owl:Class MONDO:0000904 biolink:NamedThing complex cortical dysplasia with other brain malformations tmpaxzxjjyw_mondo_relaxed.owl complex cortical dysplasia with other brain malformations|cortical dysplasia, complex, with other brain malformations|CDCBM UMLS:CN228165|DOID:0090131|OMIMPS:614039 owl:Class CHEBI:33598 biolink:NamedThing carbocyclic compound A homocyclic compound in which all of the ring members are carbon atoms. tmpaxzxjjyw_mondo_relaxed.owl carbocyclic compounds|carbocyclic compound|carbocycle owl:Class CHEBI:33832 biolink:NamedThing organic cyclic compound Any organic molecule that consists of atoms connected in the form of a ring. tmpaxzxjjyw_mondo_relaxed.owl organic cyclic compounds owl:Class MONDO:0011042 biolink:NamedThing Martinez-Frias syndrome tmpaxzxjjyw_mondo_relaxed.owl Martinez-Frias syndrome|Martínez-Frías syndrome|pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula UMLS:CN199270|UMLS:C1832443|Orphanet:137862|OMIM:601346 owl:Class MONDO:0016988 biolink:NamedThing hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1). tmpaxzxjjyw_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to HNF4A deficiency Orphanet:263455|UMLS:C4274078|ICD10:E16.1|SCTID:717048002 owl:Class MONDO:0015624 biolink:NamedThing diazoxide-sensitive diffuse hyperinsulinism tmpaxzxjjyw_mondo_relaxed.owl hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form ICD10:E16.1|Orphanet:165985 owl:Class MONDO:0014044 biolink:NamedThing dysmorphism-conductive hearing loss-heart defect syndrome A syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. The craniofacial dysmorphism included low frontal hairline, ptosis, prominent eyes, flat midface, Cupid's bow configuration of the upper lip, and low-set, posteriorly rotated small ears. tmpaxzxjjyw_mondo_relaxed.owl TYSHCHENKO syndrome ICD10:Q87.8|OMIM:615102|UMLS:C3554774|Orphanet:289553|SCTID:763279007 owl:Class CL:0002119 biolink:NamedThing CD38-positive IgG-negative class switched memory B cell A CD38-positive IgG-negative memory B cell is an IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-positive and IgG-negative. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0002117 biolink:NamedThing IgG-negative class switched memory B cell A class switched memory B cell that lacks IgG on the cell surface. tmpaxzxjjyw_mondo_relaxed.owl IgG- class switched memory B cell|IgG- class switched memory B-cell|IgG-negative class switched memory B-cell|IgG- class switched memory B-lymphocyte|IgG- class switched memory B lymphocyte|IgG-negative class switched memory B-lymphocyte|IgG-negative class switched memory B lymphocyte cell owl:Class HsapDv:0000123 biolink:NamedThing 29-year-old human stage Adult stage that refers to an adult who is over 29 and under 30. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000000 biolink:NamedThing human life cycle stage A spatiotemporal region encompassing some part of the life cycle of an organism. tmpaxzxjjyw_mondo_relaxed.owl stage|developmental stage owl:Class MONDO:0018035 biolink:NamedThing syndrome with combined immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN204279|Orphanet:331217 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class GO:1901191 biolink:NamedThing negative regulation of formation of translation initiation ternary complex Any process that stops, prevents or reduces the frequency, rate or extent of formation of translation initiation ternary complex. tmpaxzxjjyw_mondo_relaxed.owl inhibition of formation of translation initiation ternary complex|down regulation of translation initiation ternary complex assembly|downregulation of formation of translation initiation ternary complex|negative regulation of translation initiation ternary complex assembly|downregulation of translation initiation ternary complex assembly|down-regulation of translation initiation ternary complex assembly|inhibition of translation initiation ternary complex assembly|down regulation of formation of translation initiation ternary complex|down-regulation of formation of translation initiation ternary complex owl:Class GO:0031333 biolink:NamedThing negative regulation of protein-containing complex assembly Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. tmpaxzxjjyw_mondo_relaxed.owl down regulation of protein complex assembly|down-regulation of protein complex assembly|negative regulation of protein complex assembly|inhibition of protein complex assembly|downregulation of protein complex assembly owl:Class MONDO:0003210 biolink:NamedThing intrahepatic cholangiocarcinoma A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. tmpaxzxjjyw_mondo_relaxed.owl intrahepatic cholangiocarcinoma|intrahepatic cholangiocarcinoma (bile duct cancer)|intrahepatic carcinoma of the bile duct|peripheral cholangiocarcinoma|intrahepatic bile duct cancer (cholangiocarcinoma)|intrahepatic bile duct carcinoma|cholangiocarcinoma, intrahepatic, malignant|intrahepatic Cholangiocellular carcinoma|IHCH|ICC|intrahepatic carcinoma of bile duct ICD10:C22.1|NCIT:C35417|SCTID:109842005|DOID:4928|UMLS:C0345905|EFO:1001961|MESH:D018281|ONCOTREE:IHCH|GARD:0006042 https://rarediseases.info.nih.gov/diseases/6042/intrahepatic-cholangiocarcinoma owl:Class MONDO:0019087 biolink:NamedThing cholangiocarcinoma A carcinoma that arises from the intrahepatic biliary tree (intrahepatic cholangiocarcinoma) or from the junction, or adjacent to the junction, of the right and left hepatic ducts (hilar cholangiocarcinoma). Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. tmpaxzxjjyw_mondo_relaxed.owl cholangiocarcinoma, malignant|cholangiosarcoma|CCA|cholangiocarcinoma|intrahepatic bile duct cancer (cholangiocarcinoma)|adult primary cholangiocellular carcinoma|Cholangiocellular carcinoma|bile duct cancer|cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)|adult primary cholangiocarcinoma|CC|Cholangiocar.- intra/extrahepatic ICD10:C24.9|MESH:D018281|NCIT:C4436|DOID:4947|ICD10:C24.8|MedDRA:10008593|OMIM:615619|ICD10:C24.0|ICD10:C22.1|Orphanet:70567|UMLS:C0740277|ONCOTREE:CHOL|UMLS:C0206698|EFO:0005221|ICDO:8160/3|MedDRA:10004593|SCTID:312104005|GARD:0009304 owl:Class MONDO:0019787 biolink:NamedThing autoimmune enteropathy Severe-immune mediated enteropathy describes a variety of intestinal disorders that can range from a serious, early-onset systemic disease (IPEX) to a mild isolated gastrointestinal disease. In children it manifests with severe diarrhea and dehydration in the presence of characteristic antibodies (anti-enterocyte and anti-goblet cell) and in adults with chronic diarrhea, malabsorption and weight loss. tmpaxzxjjyw_mondo_relaxed.owl severe immune-mediated enteropathy|immune-mediated protracted diarrhea of infancy ICD9:279.49|SCTID:235728001|UMLS:C0341305|GARD:0008689|Orphanet:94075|NCIT:C94694|MESH:C538273 owl:Class MONDO:0020598 biolink:NamedThing malabsorption syndrome A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea. tmpaxzxjjyw_mondo_relaxed.owl malabsorption|malabsorption syndrome NCIT:C3214|MESH:D008286|SCTID:32230006|UMLS:C0024523 owl:Class UBERON:0000358 biolink:NamedThing blastocyst tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008440 biolink:NamedThing spastic paraplegia-nephritis-deafness syndrome This syndrome is characterised by variable spastic paraplegia, bilateral sensorineural deafness, intellectual deficit and progressive nephropathy. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia, bilateral sensorineural deafness, intellectual retardation, and progressive nephropathy|Fitzsimmons Walson Mellor syndrome|Fitzsimmons-Walson-Mellor syndrome|spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy|spastic paraplegia, sensorineural deafness, intellectual disability, and progressive nephropathy|spastic paraplegia - nephritis - deafness MESH:C537937|Orphanet:2820|GARD:0002342|OMIM:182690|UMLS:C2931667 https://rarediseases.info.nih.gov/diseases/2342/fitzsimmons-walson-mellor-syndrome owl:Class UBERON:0003865 biolink:NamedThing distal phalanx of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004300 biolink:NamedThing distal phalanx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006386 biolink:NamedThing primary peritoneal serous adenocarcinoma A rare, serous adenocarcinoma that diffusely involves the pelvic peritoneum seen predominantly in elderly postmenopausal women. Exclusion of serous carcinoma arising from the ovary and fimbrial end of fallopian tube is required to diagnose the above entity. tmpaxzxjjyw_mondo_relaxed.owl primary peritoneal serous adenocarcinoma EFO:1000494|NCIT:C40023|UMLS:C1514429 owl:Class MONDO:0015686 biolink:NamedThing primary peritoneal carcinoma Primary peritoneal carcinoma (PPC) is a rare malignant tumor of the peritoneal cavity of extra-ovarian origin, clinically and histologically similar to advanced-stage serous ovarian carcinoma. tmpaxzxjjyw_mondo_relaxed.owl primary peritoneal carcinoma|EOPPC|serous surface papillary carcinoma|primary peritoneal serous carcinoma|primary peritoneal carcinoma (disease)|PPC|primary peritoneal cancer|Extra-ovarian primary peritoneal carcinoma primary peritoneal carcinoma (disease) UMLS:CN200184|NCIT:C40022|ICD10:C48.2|HP:0030406|Orphanet:168829 owl:Class MONDO:0003941 biolink:NamedThing classic variant of chromophobe renal cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl classic variant of chromophobe renal cell carcinoma NCIT:C27888|DOID:6605|UMLS:C1333062 owl:Class MONDO:0017885 biolink:NamedThing chromophobe renal cell carcinoma Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg DubC) syndrome, have been described. tmpaxzxjjyw_mondo_relaxed.owl ChRCC|chromophobe carcinoma of the kidney|chromophobe renal cell adenocarcinoma|chromophobe cell carcinoma of the kidney|chromophobe adenocarcinoma|chromophobe cell carcinoma of kidney|chromophobe renal cell carcinoma|CRCC|chromophobe renal cell cancer|chromophobe carcinoma|CHRCC|kidney chromophobe|renal cell carcinoma, chromophobe cell|chromophobe carcinoma of kidney|renal cell carcinoma, chromophobe type NCIT:C4146|Orphanet:319303|UMLS:C3887514|DOID:4471|SCTID:733471003|UMLS:C1266042|ICD10:C64|MESH:D002292|GARD:0006064|ONCOTREE:CHRCC|ICDO:8270/3|EFO:0000335|ICDO:8317/3 https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma owl:Class MONDO:0004273 biolink:NamedThing breast apocrine adenoma A rare, benign and well circumscribed neoplasm that arises from the breast. It is characterized by the proliferation of epithelial cells with extensive apocrine metaplasia. tmpaxzxjjyw_mondo_relaxed.owl apocrine adenoma of breast|breast apocrine adenoma NCIT:C40383|DOID:7540|UMLS:C1388299 owl:Class MONDO:0024666 biolink:NamedThing benign epithelial skin neoplasm A form of epithelial skin neoplasm without malignant characteristics. tmpaxzxjjyw_mondo_relaxed.owl epithelial skin neoplasm, benign|benign epithelial skin neoplasm|benign epithelial skin tumor|benign skin epithelium neoplasm|benign skin epithelium tumor UMLS:C0345981|NCIT:C7341 owl:Class HGNC:18084 biolink:NamedThing TRPV3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33664 biolink:NamedThing monocyclic hydrocarbon tmpaxzxjjyw_mondo_relaxed.owl monocyclic hydrocarbons|monocyclic hydrocarbon owl:Class CHEBI:33663 biolink:NamedThing cyclic hydrocarbon tmpaxzxjjyw_mondo_relaxed.owl cyclic hydrocarbon|cyclic hydrocarbons owl:Class MONDO:0009759 biolink:NamedThing mosaic variegated aneuploidy syndrome 1 Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene. tmpaxzxjjyw_mondo_relaxed.owl mosaic variegated aneuploidy syndrome caused by mutation in BUB1B|MVA1|MVA syndrome|mosaic variegated aneuploidy syndrome 1|MOSAIC variegated aneuploidy syndrome 1|mosaic variegated aneuploidy syndrome type 1|BUB1B mosaic variegated aneuploidy syndrome|Mosaic variegated aneuploidy syndrome type 1 OMIM:257300|DOID:0080141|UMLS:CN031748 owl:Class MONDO:0000141 biolink:NamedThing mosaic variegated aneuploidy syndrome Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition. tmpaxzxjjyw_mondo_relaxed.owl MVA1|Mosaic variegated aneuploidy syndrome 1|Warburton-Anyane-Yeboa syndrome MESH:C536987|UMLS:C1850343|Orphanet:1052|ICD10:Q99.8|OMIM:614114|OMIMPS:257300|NCIT:C128192|ICD9:758.89|OMIM:257300|GARD:0003007|SCTID:700056005 owl:Class MONDO:0018547 biolink:NamedThing acute tricyclic antidepressant poisoning Acute tricyclic antidepressant (TCA) poisoning is a potentially lethal intoxication that is characterized by life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension, and sudden death. tmpaxzxjjyw_mondo_relaxed.owl ICD10:T43.0|Orphanet:43117|UMLS:CN227537 owl:Class MONDO:0029000 biolink:NamedThing poisoning A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent. tmpaxzxjjyw_mondo_relaxed.owl poisoning syndrome|intoxication|Poisonings EFO:0008546|SCTID:75478009|UMLS:C0302332|MESH:D011041 owl:Class MONDO:0024284 biolink:NamedThing demodicidosis of sebaceous gland A demodicidosis that involves the sebaceous gland. tmpaxzxjjyw_mondo_relaxed.owl sebaceous gland demodicidosis owl:Class MONDO:0017280 biolink:NamedThing demodicidosis Demodicidosis is a rare parasitic cutaneous disease due to Demodex mite infestation characterized by variable degrees of spinulosis, erythema, papules, and pustules, usually accompanied by a burning or pruritic sensation. Face (incl. eyelids) is most frequently affected, but ear canal, scalp, neck, back, chest, nipples, buttocks, penis, and extremity (legs and arms) involvement have also been observed. Dermoscopic examination reveals Demodex tails and follicular openings. tmpaxzxjjyw_mondo_relaxed.owl Demodex disease or disorder|Demodex caused disease or disorder|Demodicosis|Demodex infectious disease UMLS:C3854478|ICD10:B88.0|Orphanet:283|GARD:0001802 https://rarediseases.info.nih.gov/diseases/1802/demodicidosis owl:Class MONDO:0021129 biolink:NamedThing microphthalmia Congenital or developmental anomaly in which the eyeballs are abnormally small. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia|nanophthalmos|simple microphthalmos|microphthalmos ICD10:Q11.2|OMIM:609549|ICD9:743.11|OMIM:610093|SCTID:204108000|MESH:D008850|HP:0000568|OMIM:607932|OMIM:610125|OMIM:309801|OMIM:613094|OMIM:614402|OMIM:615972|OMIM:206900|OMIM:611038|ICD9:743.10|EFO:0005569|OMIM:611040|DOID:10629|OMIM:611897|OMIM:600165|OMIM:613704|OMIM:601186|Orphanet:35612|OMIM:300166|NCIT:C98989|ICD9:743.1|OMIMPS:600165 owl:Class UBERON:0004854 biolink:NamedThing gastrointestinal system mesentery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004782 biolink:NamedThing gastrointestinal system serosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000137 biolink:NamedThing 43-year-old human stage Adult stage that refers to an adult who is over 43 and under 44. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012342 biolink:NamedThing 7q11.23 microduplication syndrome 7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported. tmpaxzxjjyw_mondo_relaxed.owl Wbs Duplication syndrome|chromosome 7Q11.23 triplication syndrome|trisomy 7q11.23|Wbs triplication syndrome|chromosome 7Q11.23 Duplication syndrome|Williams-Beuren region DUPLICATION syndrome|7q11.23 duplication syndrome|dup(7)(q11.23)|Somerville-Van Der Aa syndrome MESH:C565723|ICD10:Q92.3|OMIM:609757|Orphanet:96121|GARD:0012076|UMLS:C4512054|SCTID:726707004|UMLS:C1857844 owl:Class MONDO:0000762 biolink:NamedThing syndrome caused by partial chromosomal duplication A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome. tmpaxzxjjyw_mondo_relaxed.owl chromosomal duplication syndrome DOID:0060429 This term includes partial trisomy (one additional copy of a chromosome part), and partial tetrasomy (2 additional copies of a chromosome part). Editor note: this is used in DOID to encompass typically partial duplications owl:Class MONDO:0015197 biolink:NamedThing aneurysm of sinus of Valsalva Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated. tmpaxzxjjyw_mondo_relaxed.owl SVA|sinus of Valsalva aneurysm UMLS:CN197542|SCTID:54160000|Orphanet:1054|ICD10:Q25.4|GARD:0000670|ICD9:747.29 https://rarediseases.info.nih.gov/diseases/670/aneurysm-of-sinus-of-valsalva owl:Class MONDO:0020293 biolink:NamedThing ascending aorta anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98725|ICD10:Q25.4 owl:Class MONDO:0016919 biolink:NamedThing partial deletion of the long arm of chromosome 21 tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome 21q|partial monosomy of chromosome 21q|partial deletion of the long arm of chromosome type 21|partial monosomy of the long arm of chromosome 21 Orphanet:262173|ICD10:Q93.5 owl:Class MONDO:0020054 biolink:NamedThing partial autosomal monosomy tmpaxzxjjyw_mondo_relaxed.owl partial autosomal deletion 2022-04-01 ICD10:Q93.5|ICD10:Q93.4|Orphanet:98142|ICD10:Q93.3 Reason: grouping class. Term to consider: MONDO:0000761 MONDO:0000761 owl:Class GO:0090278 biolink:NamedThing negative regulation of peptide hormone secretion Any process that decreases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0090276 biolink:NamedThing regulation of peptide hormone secretion Any process that modulates the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35219 biolink:NamedThing plant growth retardant tmpaxzxjjyw_mondo_relaxed.owl plant growth inhibitors|plant growth retardants|plant growth inhibitor owl:Class CHEBI:26155 biolink:NamedThing plant growth regulator A chemical, natural or artificial, that can affect the rate of growth of a plant. tmpaxzxjjyw_mondo_relaxed.owl plant growth regulators owl:Class MONDO:0014711 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2W Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the HARS gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant axonal Charcot-Marie-Tooth disease type 2W|autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W|Charcot-Marie-Tooth neuropathy type 2W|Charcot-Marie-Tooth disease, axonal, type 2W|Charcot-Marie-Tooth neuropathy, type 2W|CMT2W|Charcot-Marie-Tooth disease, axonal, type 2w|Charcot-Marie-Tooth disease type 2 caused by mutation in HARS|HARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal type 2W Orphanet:488333|OMIM:616625|DOID:0110162|UMLS:C4225265 owl:Class MONDO:0018993 biolink:NamedThing Charcot-Marie-Tooth disease type 2 A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant axonal Charcot-Marie-Tooth disease|hereditary motor and sensory neuropathy Guadalajara neuronal type|hereditary motor and sensory neuropathy type 2|Charcot-Marie-Tooth type 2|autosomal dominant Charcot-Marie-Tooth disease type 2|CMT2|hereditary motor and sensory neuropathy Okinawa type OMIM:604484|ICD9:356.0|GARD:0012431|OMIM:118230|ICD10:G60.0|DOID:0050539|Orphanet:64746|SCTID:715665006 owl:Class UBERON:4100000 biolink:NamedThing skeletal element projection tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004529 biolink:NamedThing anatomical projection tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001623 biolink:NamedThing cicatricial lagophthalmos tmpaxzxjjyw_mondo_relaxed.owl cicatricial lagophthalmos (disease)|cicatricial lagophthalmos cicatricial lagophthalmos (disease) DOID:13038|ICD10:H02.21|ICD9:374.23|UMLS:C0155199|HP:0030004 owl:Class MONDO:0001604 biolink:NamedThing lagophthalmos tmpaxzxjjyw_mondo_relaxed.owl DOID:12959|ICD10:H02.20|SCTID:60735000|ICD10:H02.2|UMLS:C0152226|ICD9:374.20|ICD9:374.2 owl:Class MONDO:0002064 biolink:NamedThing breast angiomatosis A benign diffuse vascular proliferation in the breast. It is characterized by the formation of capillary-sized and cavernous vascular spaces. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511284|DOID:1637|NCIT:C40381 owl:Class MONDO:0001574 biolink:NamedThing capillary disorder A disease involving a capillary. tmpaxzxjjyw_mondo_relaxed.owl disease of capillaries|disease or disorder of capillary|capillary disease|disease of capillary|capillary disease or disorder|disorder of capillary ICD9:448.9|ICD10:I78|SCTID:58729003|UMLS:C0155765|ICD10:I78.9|DOID:1271|ICD9:448 owl:Class ECTO:7000075 biolink:NamedThing exposure to permafrost A exposure event involving the interaction of an exposure receptor to permafrost. tmpaxzxjjyw_mondo_relaxed.owl permafrost exposure owl:Class ECTO:0000015 biolink:NamedThing exposure to environmental material A exposure event involving the interaction of an exposure receptor to environmental material. tmpaxzxjjyw_mondo_relaxed.owl environmental material exposure owl:Class MONDO:0009929 biolink:NamedThing neonatal acute respiratory distress due to SP-B deficiency tmpaxzxjjyw_mondo_relaxed.owl SMDP1|pulmonary surfactant protein B, deficiency of|surfactant metabolism dysfunction, pulmonary, type 1|interstitial lung disease due to surfactant Protein B deficiency|neonatal acute respiratory distress due to surfactant protein B deficiency|pulmonary alveolar proteinosis, congenital, 1|interstitial lung disease, nonspecific, due to surfactant Protein B deficiency|surfactant metabolism dysfunction, pulmonary, 1 GARD:0004595|ICD10:P28.0|MESH:C566882|Orphanet:264675|OMIM:265120|Orphanet:217563|UMLS:C1968602 owl:Class MONDO:0012580 biolink:NamedThing hereditary pulmonary alveolar proteinosis Congenital pulmonary alveolar proteinosis is a very rare primary interstitial lung disease due to pulmonary surfactant accumulation within the alveolar macrophages and alveoli, characterized by a variable clinical course ranging from an asymptomatic clinical presentation and spontaneous remission, to symptoms such as dyspnea and cough, or to severe respiratory failure. tmpaxzxjjyw_mondo_relaxed.owl congenital pulmonary alveolar proteinosis|hereditary pulmonary alveolar proteinosis|inborn error of pulmonary surfactant metabolism|congenital PAP|sufactant metabolism dysfunction, pulmonary|pulmonary alveolar proteinosis, congenital MESH:C535832|OMIM:614370|ICD10:J84.0|Orphanet:217566|OMIM:300770|GARD:0004582|SCTID:707442002|UMLS:C2931035|OMIMPS:265120|Orphanet:264675|OMIM:265120 owl:Class UBERON:0004319 biolink:NamedThing distal phalanx of pedal digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003863 biolink:NamedThing pedal digit 5 phalanx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018543 biolink:NamedThing lumen of intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051447 biolink:NamedThing negative regulation of meiotic cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the meiotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl inhibition of progression through meiotic cell cycle|downregulation of progression through meiotic cell cycle|negative regulation of meiotic cell cycle progression|negative regulation of progression through meiotic cell cycle|down-regulation of progression through meiotic cell cycle|down regulation of progression through meiotic cell cycle owl:Class GO:0051445 biolink:NamedThing regulation of meiotic cell cycle Any process that modulates the rate or extent of progression through the meiotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl meiotic cell cycle modulation|regulation of progression through meiotic cell cycle|modulation of meiotic cell cycle progression|meiotic cell cycle regulator|meiotic cell cycle regulation|regulation of meiotic cell cycle progression owl:Class MONDO:0021588 biolink:NamedThing eyelid sebaceous gland carcinoma A sebaceous gland carcinoma affecting the eyelid. It arises from the meibomian glands, glands of Zeis, or glands associated with the caruncle. It usually affects elderly women and is characterized by high rate of local recurrence, regional, and distant metastases. tmpaxzxjjyw_mondo_relaxed.owl sebaceous gland of eyelid carcinoma|carcinoma of sebaceous gland of eyelid|eyelid sebaceous gland carcinoma|eyelid SGC|sebaceous gland carcinoma of the eyelid UMLS:C4525405|NCIT:C134831 owl:Class MONDO:0017008 biolink:NamedThing partial duplication of chromosome X tmpaxzxjjyw_mondo_relaxed.owl partial duplication of chromosome type X|partial trisomy of chromosome X Orphanet:263768|ICD10:Q99.8 owl:Class MONDO:0700027 biolink:NamedThing chromosome X disorder Chromosomal disorder in which chromosome X is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0009387 biolink:NamedThing familial lipoprotein lipase deficiency Familial lipoprotein lipase deficiency is a rare genetic disorder is which a person lacks the enzyme lipoprotein lipase, a protein needed to break down fat molecules. Deficiency of this enzyme prevents affected individuals from properly digesting certain fats. This results in the accumulation of fatty droplets called chylomicrons in the blood and an increase in the blood concentration of triglycerides. Symptoms include episodes of abdominal pain, recurrent inflammation of the pancreas (pancreatitis), abnormal enlargement of the liver and/or spleen (hepatosplenomegaly), and the development of skin lesions known as erruptive xanthomas. Familial lipoprotein lipase deficiency is caused by changes (mutations) in the LPL gene. It is inherited in an autosomal recessive pattern. Treatment aims to control symptoms and blood triglyceride levels with a very low-fat diet. Treatment for individual symptoms (i.e. pancreatitis) involves following established treatment guidelines. tmpaxzxjjyw_mondo_relaxed.owl familial lipoprotein lipase deficiency with type I phenotype|familial lipoprotein lipase deficiency (disorder) [ambiguous]|familial chylomiconemia syndrome|hypercholesterinaemic xanthomatosis|endogenous hypertriglyceridaemia|lipoprotein lipase deficiency|hyperchylomicronemia, familial|hyperlipemia, idiopathic, Burger-Grutz type|familial LPL deficiency|familial hyperlipoproteinemia type I|LPL deficiency|chylomicronemia, familial|lipd deficiency|hyperlipemia, essential familial|hyperlipoproteinemia, type 1A|Burger-Grutz syndrome|familial fat-induced hypertriglyceridemia|mixed hyperglyceridemia|familial hyperchylomicronemia|lipoprotein lipase deficiency, familial|hyperlipoproteinemia, type 1|Fredrickson type I lipaemia|type I hyperlipoproteinemia|hyperchylomicronemia|lipase D deficiency|hyperlipoproteinemia type I|hyperlipoproteinemia, type I|Fredrickson type I hyperlipoproteinemia GARD:0012241|ICD9:272.3|SCTID:275598004|ICD10:E78.3|OMIM:238600|NCIT:C84771|DOID:14118|Orphanet:309015|MESH:D008072 https://rarediseases.info.nih.gov/diseases/12241/familial-lipoprotein-lipase-deficiency owl:Class MONDO:0018690 biolink:NamedThing Holmes-Adie syndrome A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye. tmpaxzxjjyw_mondo_relaxed.owl Adie's pupil|tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes|poorly Reacting pupils|Adie's syndrome|Adie's pupil syndrome|Adie pupil|Holmes-Adie syndrome|Adie's pupil or syndrome|Adie syndrome|tonic pupil-tendon areflexia syndrome|tonic pupil SCTID:24225004|ICD10:H57.0|MESH:D000270|NCIT:C34357|GARD:0005749|DOID:11549|Orphanet:454718|UMLS:C0001519|OMIM:103100|EFO:0004126 owl:Class MONDO:0011442 biolink:NamedThing advanced sleep phase syndrome 1 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene. tmpaxzxjjyw_mondo_relaxed.owl FASPS1|advanced sleep phase syndrome, familial, type 1|PER2 advanced sleep phase syndrome|familial advanced sleep phase syndrome 1|advanced sleep phase syndrome type 1|advanced sleep phase syndrome, familial, 1|advanced sleep phase syndrome caused by mutation in PER2 DOID:0110011|Orphanet:164736|UMLS:C3807327|OMIM:604348 owl:Class MONDO:0015609 biolink:NamedThing advanced sleep phase syndrome Familial advanced sleep-phase syndrome (FASPS) is a very rare circadian rhythm sleep disorder characterized by very early sleep onset and offset possibly resulting in emotional and physical disruptions. tmpaxzxjjyw_mondo_relaxed.owl advanced sleep phase syndrome, familial|FASPS|familial advanced sleep-phase syndrome|familial advanced sleep phase syndrome GARD:0009242|OMIM:604348|DOID:0050628|Orphanet:164736|OMIM:615224|OMIM:616882|OMIMPS:604348|ICD10:G47.2|SCTID:715829003 owl:Class UBERON:0003842 biolink:NamedThing neural tube lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044205 biolink:NamedThing Shwachman-Diamond syndrome 2 Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia ({1:Stepensky et al., 2017}).nnFor a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM:260400). tmpaxzxjjyw_mondo_relaxed.owl Shwachman-Diamond syndrome 2|SDS2 UMLS:CN244554|OMIM:617941 owl:Class MONDO:0009833 biolink:NamedThing Shwachman-Diamond syndrome Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation. tmpaxzxjjyw_mondo_relaxed.owl Schwachmann-Diamond syndrome|Shwachman-Diamond syndrome|Shwachman syndrome|Shwachman-Diamond type metaphyseal dysplasia|Shwachman-Bodian syndrome|SDS|congenital lipomatosis of pancreas|pancreatic insufficiency and bone marrow dysfunction|lipomatosis of pancreas, congenital|Schwachman-Diamond syndrome|Shwachman-Bodian-Diamond syndrome DOID:0060479|DOID:0080023|ICD10:D61.0|SCTID:89454001|NCIT:C61235|OMIM:260400|MESH:C537330|MedDRA:10067940|GARD:0004863|Orphanet:811|OMIMPS:260400 MONDO:0000843 https://rarediseases.info.nih.gov/diseases/4863/shwachman-diamond-syndrome owl:Class MONDO:0000709 biolink:NamedThing Crohn ileitis An Crohn disease involving a pathogenic inflammatory response in the ileum. tmpaxzxjjyw_mondo_relaxed.owl ileitis|Crohn's ileitis DOID:0060189|SCTID:52457000|UMLS:C0020877|MedDRA:10021312|NCIT:C35329|MESH:D007079|ICD9:558.9|NDFRT:N0000001662|CSP:1248-5305|ICD10:K52.9 owl:Class MONDO:0005539 biolink:NamedThing small bowel Crohn disease An Crohn disease involving a pathogenic inflammatory response in the small intestine. tmpaxzxjjyw_mondo_relaxed.owl small bowel Crohn's disease EFO:0005629 owl:Class MONDO:0003621 biolink:NamedThing small intestinal vasoactive intestinal peptide producing tumor A neuroendocrine tumor that arises from the small intestine and produces vasoactive intestinal peptide. tmpaxzxjjyw_mondo_relaxed.owl small intestinal vasoactive intestinal peptide producing tumor|small intestinal VIPoma|small intestinal VIP-producing NET|small intestinal VIP-producing neuroendocrine tumor|small intestinal VIP producing tumor UMLS:C1336009|DOID:5740|NCIT:C27455 owl:Class MONDO:0002995 biolink:NamedThing small intestine neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the small intestine. tmpaxzxjjyw_mondo_relaxed.owl small intestinal well differentiated endocrine tumor|carcinoid tumor of small intestine|small intestine neuroendocrine tumor|small intestinal neuroendocrine tumor|small intestinal NET|small intestinal well differentiated endocrine tumor/carcinoma EFO:1001928|NCIT:C96061|UMLS:C3272528 owl:Class MONDO:0010024 biolink:NamedThing Beemer-Langer syndrome Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal. tmpaxzxjjyw_mondo_relaxed.owl short rib polydactyly syndrome Beemer-Langer type|Beemer Langer syndrome|short rib-polydactyly syndrome, type 4|short rib syndrome, Beemer type|short-rib thoracic dysplasia 12|Srps 4|short rib-polydactyly syndrome Beemer type|short rib-polydactyly syndrome, Beemer-Langer type|SRPS type 4|SRTD12|type IV short rib polydactyly syndrome|short rib-polydactyly syndrome type IV|Beemer-Langer syndrome|short rib-polydactyly syndrome type 4 ICD10:Q77.2|SCTID:254052001|ICD9:756.9|MESH:C537599|Orphanet:93268|DOID:9249|UMLS:C0432198|GARD:0004832|OMIM:269860 owl:Class MONDO:0015569 biolink:NamedThing congenital nasal pyriform aperture stenosis with holoprosencephaly tmpaxzxjjyw_mondo_relaxed.owl apertura pyriformis with holoprosencephaly Orphanet:162521|ICD10:Q30.8 owl:Class MONDO:0015503 biolink:NamedThing nose and cavum anomaly tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q30.3|ICD10:Q30.1|ICD10:Q30.9|ICD10:Q30.0|ICD10:Q30.2|Orphanet:156246|ICD10:Q30.8 owl:Class MONDO:0000461 biolink:NamedThing nutritional biotin deficiency tmpaxzxjjyw_mondo_relaxed.owl B7 deficiency|biotin deficiency disease|biotin deficiency|vitamine B7 deficiency MESH:C531633|DOID:0050810|SCTID:49607006 Editor note: the DO class is 'biotin deficiency' but DO places as a subclass of nutritional. Consider adding grouping for inborn form, see PMID:3318710. MESH seems to refer to this? owl:Class HP:0003521 biolink:NamedThing Disproportionate short-trunk short stature A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. tmpaxzxjjyw_mondo_relaxed.owl Short-trunked dwarfism|Disproportionate short-trunked short stature|Disproportionate short-trunked dwarfism UMLS:C1846435 HP:0008923|HP:0001524|HP:0003500 human_phenotype owl:Class HP:0009121 biolink:NamedThing Abnormal axial skeleton morphology An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the axial skeleton UMLS:C4024586|UMLS:C4020785 peter 2008-04-05T11:16:00Z human_phenotype owl:Class MONDO:0017094 biolink:NamedThing cerebral cortical dysplasia Abnormalities in the development of the cerebral cortex. These include malformations arising from abnormal neuronal and glial cell proliferation or apoptosis (Group I); abnormal neuronal migration (Group ii); and abnormal establishment of cortical organization (Group iii). Many inborn metabolic brain disorders affecting cns formation are often associated with cortical malformations. They are common causes of epilepsy and developmental delay. tmpaxzxjjyw_mondo_relaxed.owl cortical dysplasia|brain cortical dysplasia MESH:D054220|ICD10:Q04.8|NCIT:C42088|Orphanet:268950|SCTID:253153000 owl:Class MONDO:0002856 biolink:NamedThing gallbladder rhabdomyosarcoma A rhabdomyosarcoma that is located in the gallbladder. tmpaxzxjjyw_mondo_relaxed.owl gall bladder rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of gall bladder|gall bladder rhabdomyosarcoma|rhabdomyosarcoma of the gallbladder|gallbladder rhabdomyosarcoma|rhabdomyosarcoma of gallbladder NCIT:C5839|DOID:4057|UMLS:C1333756 owl:Class MONDO:0002857 biolink:NamedThing gallbladder sarcoma A malignant soft tissue neoplasm that arises from the gallbladder. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of gall bladder|gallbladder sarcoma|sarcoma of gallbladder|sarcoma of the gallbladder|gall bladder sarcoma|malignant mesenchymal tumor of gallbladder DOID:4058|UMLS:C1333757|NCIT:C5736 owl:Class MONDO:0019615 biolink:NamedThing pituitary dermoid and epidermoid cysts tmpaxzxjjyw_mondo_relaxed.owl Orphanet:91351 owl:Class MONDO:0017611 biolink:NamedThing pituitary tumor A benign or malignant neoplasm affecting the pituitary gland. The vast majority are adenomas arising from the anterior lobe of the pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the pituitary|neoplasm of the pituitary gland|tumor of the pituitary|tumor of pituitary|pituitary tumor|tumor of the pituitary gland|neoplasm of pituitary|pituitary neoplasm|pituitary gland tumor|pituitary gland neoplasm|tumor of pituitary gland|neoplasm of pituitary gland SCTID:127024001|UMLS:C0032019|NCIT:C3330|Orphanet:304055|ICD9:239.7 owl:Class MONDO:0015030 biolink:NamedThing sclerosing perineurioma tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197320|Orphanet:100001 owl:Class MONDO:0015031 biolink:NamedThing extraneural perineurioma Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization. tmpaxzxjjyw_mondo_relaxed.owl soft tissue perineurioma UMLS:CN197321|SCTID:768926005|Orphanet:100002 owl:Class UBERON:0014794 biolink:NamedThing pectoral appendage muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010891 biolink:NamedThing pectoral complex muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001643 biolink:NamedThing exophthalmic ophthalmoplegia tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152135|DOID:13135|ICD9:376.22|SCTID:69763009 owl:Class MONDO:0001835 biolink:NamedThing facial paralysis Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis. tmpaxzxjjyw_mondo_relaxed.owl face palsy|facial palsy|palsy of face UMLS:C0015469|NCIT:C26769|DOID:13934|SCTID:280816001|ICD10:G51.0|MESH:D005158 owl:Class UBERON:0003384 biolink:NamedThing skeletal muscle tissue of pharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004830 biolink:NamedThing respiratory system skeletal muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016033 biolink:NamedThing Cornelia de Lange syndrome A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes. tmpaxzxjjyw_mondo_relaxed.owl CDLS|Brachmann de Lange syndrome|De Lange syndrome|Brachmann-de Lange syndrome|Cornelia de Lange syndrome GARD:0010109|UMLS:CN239271|OMIMPS:122470|OMIM:300590|MedDRA:10056354|NCIT:C75016|ICD10:Q87.1|UMLS:C0270972|OMIM:300882|Orphanet:199|OMIM:122470|DOID:11725|SCTID:40354009|OMIM:614701|OMIM:610759 owl:Class MONDO:0015216 biolink:NamedThing syndromic diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic diaphragmatic or abdominal wall malformation|syndrome associated with diaphragmatic or abdominal wall malformation UMLS:CN226633|Orphanet:108979 owl:Class MONDO:0020605 biolink:NamedThing X-linked recessive disease X-linked recessive form of disease. tmpaxzxjjyw_mondo_relaxed.owl DOID:0080012 owl:Class MONDO:0001163 biolink:NamedThing paranoid personality disorder A disorder characterized by an enduring pattern of behavior based on the pervasive belief that the motives of others are malevolent and that they should not be trusted. tmpaxzxjjyw_mondo_relaxed.owl ICD9:301.0|MESH:D010260|NCIT:C92630|ICD10:F60.0|DOID:10938|SCTID:13601005 owl:Class MONDO:0002028 biolink:NamedThing personality disorder A diverse category of psychiatric disorders characterized by behavior that deviates markedly from the expectations of the individual's culture; this pattern of deviation is pervasive and inflexible and is stable over time. The behavioral pattern negatively interferes with relationships and work. tmpaxzxjjyw_mondo_relaxed.owl personality disorder|personality disorder (disease)|character disorder personality disorder (disease) SCTID:33449004|DOID:1510|NCIT:C34922|ICD9:301.9|HP:0012075|ICD9:301.89|ICD9:301.8 owl:Class MONDO:0020760 biolink:NamedThing skin squamous cell carcinoma in situ Intraepidermal squamous cell carcinoma, confined to the epidermis. There is no evidence of invasion. tmpaxzxjjyw_mondo_relaxed.owl skin squamous cell cancer in situ|squamous cell carcinoma in situ of the skin|skin squamous cell carcinoma in situ|intraepidermal squamous cell carcinoma|squamous cell carcinoma in situ of skin NCIT:C2906 owl:Class MONDO:0004641 biolink:NamedThing skin carcinoma in situ A in situ carcinoma that involves the zone of skin. tmpaxzxjjyw_mondo_relaxed.owl stage 0 skin carcinoma|skin cancer stage 0|stage 0 zone of skin carcinoma|stage 0 nonmelanoma skin carcinoma in situ|carcinoma in situ of zone of skin|skin carcinoma in situ|carcinoma of skin stage 0|stage 0 skin cancer aJCC v6|zone of skin in situ carcinoma|carcinoma in situ of the skin|carcinoma of the skin stage 0|zone of skin carcinoma in situ|stage 0 skin cancer aJCC v7|cutaneous carcinoma in situ|nonmelanoma carcinoma in situ|stage 0 skin cancer|skin carcinoma stage 0|carcinoma in situ of skin ICD9:232.8|NCIT:C3640|ICD9:232.7|ICD9:232.4|ICD10:D04.2|ICD10:D04.0|ICD9:232.0|ICD10:D04.3|ICD10:D04.6|ICD9:232.5|ICD10:D04.9|ICD9:232.6|ICD10:D04|ICD9:232.2|ICD10:D04.7|ICD9:232.3|ICD10:D04.4|ICD9:232.9|ICD9:232|DOID:8687|SCTID:92749008|UMLS:C0154073 owl:Class MONDO:0100417 biolink:NamedThing acute myeloid leukemia, WT1 gene mutation Any acute myeloid leukemia that has the chromosomal anomaly WT1 gene mutation. (A change in the nucleotide sequence of the WT1 gene.) tmpaxzxjjyw_mondo_relaxed.owl AML, WIT-2 Gene Mutation|AML, Wilms Tumor 1 Gene Mutation|AML, WT1 gene mutation|AML, WT1 mutation|AML, GUD Gene Mutation|AML, WT33 Gene Mutation|AML, WAGR Gene Mutation NCIT:C146726 owl:Class UBERON:0009661 biolink:NamedThing midbrain nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002308 biolink:NamedThing nucleus of brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045763 biolink:NamedThing negative regulation of cellular amino acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amino acid. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of amino acid metabolism|inhibition of amino acid metabolic process|down-regulation of amino acid metabolic process|downregulation of amino acid metabolic process|down regulation of amino acid metabolic process owl:Class GO:1905554 biolink:NamedThing negative regulation of vessel branching Any process that stops, prevents or reduces the frequency, rate or extent of blood vessel branching. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of patterning of blood vessels|downregulation of branching involved in blood vessel morphogenesis|inhibition of patterning of blood vessels|inhibition of branching involved in blood vessel morphogenesis|down regulation of patterning of blood vessels|down-regulation of branching involved in blood vessel morphogenesis|down regulation of branching involved in blood vessel morphogenesis|negative regulation of branching involved in blood vessel morphogenesis|downregulation of patterning of blood vessels owl:Class MONDO:0015028 biolink:NamedThing 48,XXYY syndrome The 48,XXYY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of an extra X and Y chromosome in males. tmpaxzxjjyw_mondo_relaxed.owl XXYY syndrome|48,XXYY Klinefelter syndrome|48, XXYY syndrome|48,XXYY variant of Klinefelter's syndrome NCIT:C89801|UMLS:C2936741|SCTID:403760006|Orphanet:10|ICD10:Q98.8|MedDRA:10048230|GARD:0005677|ICD9:758.81 https://rarediseases.info.nih.gov/diseases/5677/48xxyy-syndrome owl:Class MONDO:0007142 biolink:NamedThing Townes-Brocks syndrome Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart. tmpaxzxjjyw_mondo_relaxed.owl deafness, sensorineural, with imperforate anus and thumb anomalies|anus, imperforate, with hand, foot and ear anomalies|TBS1|anus, imperforate, with hand, foot, and Ear anomalies|imperforate anus with hand, foot and ear anomalies|sensorineural deafness with imperforate anus and hypoplastic thumbs|deafness, sensorineural, with imperforate anus and hypoplastic thumbs|TBS|Townes-Brocks syndrome|Townes-Brocks syndrome 1|renal-Ear-anal-radial syndrome|Townes syndrome|Townes-Brocks-branchiootorenal-like syndrome|rear syndrome|renal-ear-anal-radial syndrome Orphanet:857|NCIT:C99085|ICD9:759.89|GARD:0007784|DOID:0050887|UMLS:CN034849|SCTID:24750000|OMIMPS:107480|ICD10:Q87.8|MESH:C536974|UMLS:C0265246 https://rarediseases.info.nih.gov/diseases/7784/townes-brocks-syndrome owl:Class NCBITaxon:222544 biolink:NamedThing Sordariomycetidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147550 biolink:NamedThing Sordariomycetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000565 biolink:NamedThing infective endocarditis Infective endocarditis (IE) is an infection of the inner lining of the heart chambers (endocardium) and valves. This condition is sometimes called 'endocarditis,' although it is important to distinguish it from non-infective endocarditis. IE is caused bybacteria, fungi, or other germs invading the bloodstream and attaching to the heart. IE can damagethe heart and cause serious and sometimes fatal complications. It can develop quickly or slowly depending on what type of germ is causing it and whether there is an underlying heart problem. Common symptoms of IE are fever and other flu-like symptoms, but signs and symptoms can vary. It can also cause problems in many other parts of the body besides the heart. IE is typically treated with antibiotics for several weeks; some individuals may need heart surgery to repair or replace heart valves or remove infected heart tissue. tmpaxzxjjyw_mondo_relaxed.owl endocarditis, infective|endocarditis infective GARD:0006337|Orphanet:570762|DOID:0060000|NCIT:C78265|ICD9:136.9|SCTID:233850007 https://rarediseases.info.nih.gov/diseases/6337/infective-endocarditis owl:Class MONDO:0005025 biolink:NamedThing endocarditis Inflammation of the endocardium. tmpaxzxjjyw_mondo_relaxed.owl inflammation of endocardium|endocarditis|endocardium inflammation|endocarditis (disease) endocarditis (disease) NCIT:C34582|ICD10:I33.9|DOID:10314|SCTID:56819008|ICD9:424.99|MESH:D004696|HP:0100584|EFO:0000465|ICD9:421.9 owl:Class MONDO:0005485 biolink:NamedThing psychotic disorder An abnormal condition of the mind that involves a loss of contact with reality. People experiencing psychosis may exhibit personality changes and thought disorder. Depending on its severity, this may be accompanied by unusual or bizarre behavior, as well as difficulty with social interaction and impairment in carrying out daily life activities. tmpaxzxjjyw_mondo_relaxed.owl psychosis|mental or behavioural disorder ICD9:298.9|HP:0000709|DOID:2468|EFO:0005407|SCTID:69322001|NCIT:C78576|ICD9:298.8|EFO:0000677 owl:Class MONDO:0005084 biolink:NamedThing mental disorder A disease that has its basis in the disruption of mental process. tmpaxzxjjyw_mondo_relaxed.owl mental process disease|mental or behavioural disorder|disorder of mental process ICD9:290-299.99|DOID:150|ICD10:F00.F99|SCTID:74732009|ICD9:298.8|MESH:D001523|SCTID:69322001|EFO:0000677|NIFSTD:birnlex_12669|UMLS:CN240636|ICD9:V11.9 owl:Class MONDO:0014466 biolink:NamedThing Neu-Laxova syndrome 2 Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene. tmpaxzxjjyw_mondo_relaxed.owl Neu-Laxova syndrome caused by mutation in PSAT1|NLS2|PSAT1 Neu-Laxova syndrome|NEU-Laxova syndrome 2|Neu-Laxova syndrome 2|Neu-Laxova syndrome type 2 DOID:0080075|OMIM:616038|UMLS:C4015019|Orphanet:2671 owl:Class MONDO:0000179 biolink:NamedThing Neu-Laxova syndrome Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl NLS|Neu Laxova syndrome|nuclear localization signal OMIM:256520|SCTID:77817004|OMIM:616038|NCIT:C14089|ICD10:Q87.8|MESH:C536405|GARD:0000102|OMIMPS:256520|Orphanet:2671|UMLS:C0265218|ICD9:759.89 owl:Class MONDO:0018558 biolink:NamedThing syndrome with woolly hair tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:434809 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0003701 biolink:NamedThing thyroid gland diffuse sclerosing papillary carcinoma A morphologic variant of papillary carcinoma of the thyroid gland that more often affects young patients and commonly metastasizing to the lungs. It is characterized by a diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration. tmpaxzxjjyw_mondo_relaxed.owl nonencapsulated sclerosing tumor|thyroid gland diffuse sclerosing papillary carcinoma|nonencapsulated sclerosing neoplasm|nonencapsulated sclerosing papillary thyroid carcinoma|nonencapsulated sclerosing carcinoma|papillary carcinoma, diffuse sclerosing|nonencapsulated sclerosing adenocarcinoma ICDO:8350/3|DOID:5914|UMLS:C0334330|NCIT:C7427|UMLS:C1321862 owl:Class MONDO:0005075 biolink:NamedThing thyroid gland papillary carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. tmpaxzxjjyw_mondo_relaxed.owl papillary carcinoma of the thyroid|thyroid gland papillary carcinoma|papillary carcinoma of thyroid gland|papillary thyroid cancer|papillary cancer of the thyroid|papillary carcinoma of thyroid|thyroid papillary carcinoma|papillary carcinoma of the thyroid gland|papillary thyroid carcinoma|papillary cancer of thyroid gland|papillary cancer of the thyroid gland|thyroid gland papillary cancer|papillary thyroid gland carcinoma|papillary cancer of thyroid UMLS:C0238463|ONCOTREE:THPA|GARD:0012027|NCIT:C4035|DOID:3969|SCTID:255029007|NCIT:C2853|EFO:0000641|HP:0002895|OMIM:188550 owl:Class GO:1904364 biolink:NamedThing positive regulation of calcitonin secretion Any process that activates or increases the frequency, rate or extent of calcitonin secretion. tmpaxzxjjyw_mondo_relaxed.owl up regulation of calcitonin secretion|activation of calcitonin secretion|upregulation of calcitonin secretion|up-regulation of calcitonin secretion owl:Class GO:0062033 biolink:NamedThing positive regulation of mitotic sister chromatid segregation Any process that starts or increases the frequency, rate or extent of sister chromatid segregation during mitosis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2001252 biolink:NamedThing positive regulation of chromosome organization Any process that activates or increases the frequency, rate or extent of chromosome organization. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of chromosome organization and biogenesis|positive regulation of maintenance of genome integrity|positive regulation of chromosome organisation|positive regulation of nuclear genome maintenance owl:Class MONDO:0006609 biolink:NamedThing seborrheic infantile dermatitis Excessive shedding of dry scaly material from the scalp in humans. tmpaxzxjjyw_mondo_relaxed.owl scalp seborrheic dermatitis (disease)|seborrhea sicca|Seborrhoeic dermatitis of scalp|Seborrhoeic eczema of scalp|pityriasis capitis|cradle cap|infantile seborrhoeic dermatitis|infantile seborrheic dermatitis|complement 5 dysfunction|seborrheic dermatitis (disease) of scalp|Seborrhoea capitis|seborrhea capitis|generalized seborrheic dermatitis of infants ICD9:690.11|EFO:1000765|ICD10:L21.0|UMLS:C0221244|DOID:8941 owl:Class MONDO:0006608 biolink:NamedThing seborrheic dermatitis A chronic, inflammatory skin disorder that affects the scalp, central face and skin folds; it is characterized by scaling and itching. tmpaxzxjjyw_mondo_relaxed.owl seborrhea|seborrheic dermatitis|Seborrhoeic eczema|seborrheic eczema|cradle Cap|seborrheic dermatitis (disease)|Seborrhoeic dermatitis|skin seborrheic seborrheic dermatitis (disease) ICD10:L21|ICD9:690.10|ICD9:706.3|EFO:1000764|ICD9:690.1|DOID:8741|NCIT:C111888|ICD10:L21.9|UMLS:C0036508|MESH:D012628|HP:0001051 owl:Class MONDO:0016387 biolink:NamedThing mitochondrial oxidative phosphorylation disorder tmpaxzxjjyw_mondo_relaxed.owl OXPHOS disease|OXPHOS system deficiency UMLS:CN201288|Orphanet:223713 owl:Class MONDO:0007423 biolink:NamedThing deafness, mid-tone neural tmpaxzxjjyw_mondo_relaxed.owl deafness, mid-tone neural UMLS:C1852283|MESH:C565122|OMIM:124700 owl:Class MONDO:0002758 biolink:NamedThing vulva verrucous carcinoma A highly differentiated squamous cell carcinoma that arises from the vulva. It is characterized by the presence of a warty and hyperkeratinized surface, malignant cells with abundant eosinophilic cytoplasm, minimal cytologic atypia, and absence or rarity of mitotic figures. The tumor infiltrates the underlying stroma with a pushing border. tmpaxzxjjyw_mondo_relaxed.owl vulvar verrucous carcinoma|verrucous carcinoma of the vulva|mammalian vulva verrucous carcinoma|verrucous carcinoma of vulva UMLS:C1336983|NCIT:C6383|DOID:3740 owl:Class MONDO:0006006 biolink:NamedThing verrucous carcinoma A well differentiated squamous cell carcinoma characterized by a papillary growth pattern, acanthosis, mild cytologic atypia, and pushing tumor margins. The most commonly affected anatomic sites are the oral cavity, nasal cavity, larynx, esophagus, anus, vagina, vulva, and the plantar region of the foot. tmpaxzxjjyw_mondo_relaxed.owl verrucous carcinoma|verrucous carcinoma NOS (morphologic abnormality)|verrucous epidermoid cell carcinoma|verrucous squamous cell carcinoma|verrucous epidermoid carcinoma|warty carcinoma|verrucous squamous carcinoma ICD9:199.1|ICDO:8051/3|SCTID:403904009|UMLS:C0206706|EFO:0007535|MESH:D018289|DOID:3737|NCIT:C3781 owl:Class HGNC:30765 biolink:NamedThing TNIK tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011817 biolink:NamedThing skin appendage placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005085 biolink:NamedThing ectodermal placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009270 biolink:NamedThing genito-palato-cardiac syndrome Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies. tmpaxzxjjyw_mondo_relaxed.owl GENITOPALATOCARDIAC syndrome|Male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal Cardiac defect|genito palato cardiac syndrome|Gardner-Silengo-Wachtel syndrome ICD10:Q87.8|OMIM:231060|GARD:0002460|MESH:C537683|UMLS:C1856466|Orphanet:2075 https://rarediseases.info.nih.gov/diseases/2460/genito-palato-cardiac-syndrome owl:Class MONDO:0042458 biolink:NamedThing Trichinella spiralis infectious disease An disease or disorder caused by infection with Trichinella spiralis. tmpaxzxjjyw_mondo_relaxed.owl trichinelliasis caused by Trichinella spiralis|trichiniasis caused by Trichinella spiralis|infection caused by larvae of Trichinella spiralis|Trichinella spiralis disease or disorder|trichinellosis caused by Trichinella spiralis|Trichinella spiralis caused disease or disorder|infection by larvae of Trichinella spiralis|trichinosis caused by Trichinella spiralis UMLS:C3887668|SCTID:88264003 owl:Class MONDO:0005992 biolink:NamedThing trichinosis A parasitic infection caused by larvae of worms of the genus Trichinella. It is transmitted to humans by ingesting raw or undercooked meat from infected animals. Signs and symptoms include abdominal discomfort, nausea, vomiting, fever, diarrhea, headache, coughing, myalgias, arthralgias, and eye swelling. tmpaxzxjjyw_mondo_relaxed.owl Trichinellosis|Trichinella infectious disease|Trichinella caused disease or disorder|Trichinella spiralis infection|Trichinella disease or disorder NCIT:C85199|DOID:9784|EFO:0007520|ICD10:B75|ICD9:124 owl:Class GO:0002893 biolink:NamedThing negative regulation of type II hypersensitivity Any process that stops, prevents, or reduces the frequency, rate, or extent of type II hypersensitivity. tmpaxzxjjyw_mondo_relaxed.owl inhibition of type II hypersensitivity|down-regulation of type II hypersensitivity|downregulation of type II hypersensitivity|down regulation of type II hypersensitivity owl:Class GO:0002892 biolink:NamedThing regulation of type II hypersensitivity Any process that modulates the frequency, rate, or extent of type II hypersensitivity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012908 biolink:NamedThing complement component 6 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene. tmpaxzxjjyw_mondo_relaxed.owl classic complement early component deficiency caused by mutation in C6|C6 deficiency|C6 deficiency, subtotal|complement component 6 deficiency|C6 classic complement early component deficiency|complement component 6 deficiency, subtotal|C6D Orphanet:169150|OMIM:612446|UMLS:C2676232|DOID:0060299|ICD10:D84.1 owl:Class MONDO:0000015 biolink:NamedThing classic complement early component deficiency A genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) that is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response. tmpaxzxjjyw_mondo_relaxed.owl genetic deficiency of early component of the classical complement pathway SCTID:363009005|UMLS:C1285186|GARD:0009526|ICD9:279.8 https://rarediseases.info.nih.gov/diseases/9526/complement-component-deficiency owl:Class MONDO:0005908 biolink:NamedThing peste des petits ruminants infectious disease A highly fatal contagious disease of goats and sheep caused by peste-des-petits-ruminants virus. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia. tmpaxzxjjyw_mondo_relaxed.owl Small ruminant morbillivirus caused disease or disorder|Peste des petits ruminants|Pseudorinderpest|Small ruminant morbillivirus disease or disorder|Small ruminant morbillivirus infectious disease UMLS:C0949885|EFO:0007431|MESH:D029021 owl:Class MONDO:0004769 biolink:NamedThing orbital plasma cell granuloma A nonspecific tumor-like inflammatory lesion in the orbit of the eye. It is usually composed of mature lymphocytes; plasma cells; macrophages; leukocytes with varying degrees of fibrosis. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (orbital myositis) or inflammation of the lacrimal glands (dacryoadenitis). tmpaxzxjjyw_mondo_relaxed.owl plasma cell granuloma, orbital|granuloma, plasma cell, orbital|inflammatory pseudotumor, orbital|orbital myositis|orbital inflammatory pseudotumor|orbital inflammatory pseudotumors|inflammatory pseudotumors, orbital|pseudotumor of orbit|pseudotumor, inflammatory, orbital|inflammatory pseudotumor of orbit|pseudotumor, orbital inflammatory|pseudotumor, orbital|pseudotumors, orbital|orbital pseudotumors|orbital granuloma, plasma cell SCTID:80698001|MESH:D016727|ICD9:376.12|ICD10:H05.11|DOID:9369|SCTID:72789009|NCIT:C117296 Editor note: check relationship to orbotral granuloma owl:Class MONDO:0021167 biolink:NamedThing myositis An inflammatory disease involving a pathogenic inflammatory response in the muscle tissue. tmpaxzxjjyw_mondo_relaxed.owl inflammation of muscle tissue|inflammatory disorder of muscle (disorder)|inflammatory disorder of muscle|muscle tissue inflammation ICD10:M60|SCTID:128496001|UMLS_CUI:C0027121|DOID:633|NCIT:C27578|MESH:D009220|ICD9:728.9|OMIM:160750|EFO:0000783|ICD10:M60.9|ICD10:G72.49 owl:Class GO:0003093 biolink:NamedThing regulation of glomerular filtration Any process that modulates the frequency, rate or extent of glomerular filtration. Glomerular filtration is the process in which blood is filtered by the glomerulus into the renal tubule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019469 biolink:NamedThing T-cell large granular lymphocyte leukemia T-cell large granular lymphocyte leukemia (T-cell LGL leukemia) is a lymphoproliferative malignancy that arises from the mature T-cell (CD3+) lineage. tmpaxzxjjyw_mondo_relaxed.owl large cell granular lymphogenous leukemia|large granular lymphocyte leukemia|T-cell large granular lymphocytic leukemia|large cell granular lymphoid leukemia|T-cell large gran. lymph. leuk.|TLGL|T-gamma lymphoproliferative disorder|LGLL|leukemia, large granular LYMPHOCYTIC, malignant|T-LGL leukemia|proliferation of large granular lymphocytes|T gamma lymphoproliferative disorder|large granular lymphocytic leukemia|T-LGL|LGL leukemia|T-cell large granular lymphocyte leukemia|Tgamma large granular lymphocyte leukemia|T-cell LGL leukemia|large granular lymphocytosis SCTID:277569004|GARD:0009812|DOID:0050751|UMLS:C1955861|ICDO:9768/1|Orphanet:86872|ICDO:9831/1|ICDO:9831/3|NCIT:C4664|ICD9:204.80|ONCOTREE:TLGL|UMLS:C1522378|MedDRA:10065862 owl:Class MONDO:0015822 biolink:NamedThing acquired neutropenia An instance of neutropenia that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl immunologic neutropenia|acquired neutropenia Orphanet:178996 owl:Class MONDO:0030844 biolink:NamedThing spermatogenic failure 47 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 47|SPGF47 OMIM:619102 owl:Class MONDO:0004983 biolink:NamedThing azoospermia Complete absence of spermatozoa in the semen. tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure OMIM:606766|OMIM:615413|OMIM:615842|UMLS:C0004509|OMIM:102530|OMIM:243060|OMIM:615841|NCIT:C80076|OMIM:614822|OMIM:309120|OMIM:613958|ICD9:606.0|OMIM:108420|DOID:14227|EFO:0000279|SCTID:425558002|OMIM:613957|OMIM:258150|ICD10:N46.0|OMIM:615081|ICD10:N46.01|OMIM:612997|OMIMPS:258150|OMIM:415000|MESH:D053713|OMIM:270960 owl:Class CL:0002187 biolink:NamedThing basal cell of epidermis A basally situated, mitotically active, columnar-shaped keratinocyte attached to the basement membrane. tmpaxzxjjyw_mondo_relaxed.owl FMA:70571 tmeehan 2010-08-26T03:12:49Z CL:1000439 cell owl:Class CL:1000428 biolink:NamedThing stem cell of epidermis A somatic stem cell that is part of the epidermis. tmpaxzxjjyw_mondo_relaxed.owl epidermal stem cell FMA:70541 cell owl:Class HP:0012865 biolink:NamedThing Abnormal sperm head morphology A structural abnormality of the sperm head. tmpaxzxjjyw_mondo_relaxed.owl Sperm head anomaly UMLS:C4022702 hecht 2014-06-09T10:48:21Z human_phenotype owl:Class HP:0012864 biolink:NamedThing Abnormal sperm morphology A structural anomaly of sperm. tmpaxzxjjyw_mondo_relaxed.owl Teratospermia|Teratozoospermia|Abnormal shape of sperm MSH:D000072660|SNOMEDCT_US:236817003|UMLS:C0403824 hecht 2014-06-09T10:07:03Z human_phenotype owl:Class MONDO:0017306 biolink:NamedThing disorder of phenylalanine metabolism tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268461|SCTID:12957008|ICD10:E70.1|Orphanet:284814|ICD9:270.8|ICD10:E70.0 owl:Class MONDO:0019235 biolink:NamedThing inborn disorder of phenylalanin or tyrosine metabolism tmpaxzxjjyw_mondo_relaxed.owl disorder of phenylalanin or tyrosine metabolism UMLS:CN227599|Orphanet:79190 owl:Class MONDO:0018657 biolink:NamedThing pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome tmpaxzxjjyw_mondo_relaxed.owl CAPOK|CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA Orphanet:447961|UMLS:CN237716|OMIM:618373 owl:Class MONDO:0021034 biolink:NamedThing genetic alopecia An instance of alopecia that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic alopecia Orphanet:481771 owl:Class MONDO:0014867 biolink:NamedThing spinocerebellar ataxia 43 Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant cerebellar ataxia caused by mutation in MME|SCA43|spinocerebellar ataxia type 43|MME autosomal dominant cerebellar ataxia|spinocerebellar ataxia 43; SCA43|spinocerebellar ataxia 43 EFO:0009060|UMLS:C4310763|OMIM:617018|DOID:0111745|Orphanet:497764 owl:Class MONDO:0020380 biolink:NamedThing autosomal dominant cerebellar ataxia Autosomal dominant cerebellar ataxia (ADCA) describes a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by a slowly progressive ataxia of gait, stance and limbs, dysarthria and/or oculomotor disorder, due to cerebellar degeneration in the absence of coexisting diseases. The degenerative process can be limited to the cerebellum (ADCA type 3) or may additionally involve the retina (ADCA type 2), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type 1). In ACDA type 4, a cerebellar syndrome is associated with epilepsy. tmpaxzxjjyw_mondo_relaxed.owl SCA|cerebellar ataxia, autosomal dominant|Pierre Marie cerebellar ataxia (formerly)|autosomal dominant spinocerebellar ataxia|ADCA|spinocerebellar ataxia Orphanet:99|GARD:0004346|UMLS:CN227858|ICD9:334.3|SCTID:129609000|DOID:1441|ICD10:G11.8|OMIMPS:164400 owl:Class MONDO:0000545 biolink:NamedThing sublingual gland adenoid cystic carcinoma A adenoid cystic carcinoma that involves the sublingual gland. tmpaxzxjjyw_mondo_relaxed.owl sublingual gland adenoid cystic carcinoma DOID:0050930 owl:Class MONDO:0045063 biolink:NamedThing major salivary gland adenoid cystic carcinoma An aggressive carcinoma that arises from the major salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. tmpaxzxjjyw_mondo_relaxed.owl major salivary gland adenoid cystic cancer|adenoid cystic carcinoma of major salivary gland|major salivary gland adenoid cystic carcinoma|adenoid cystic carcinoma of the major salivary gland UMLS:C1334548|NCIT:C5905 owl:Class MONDO:0006984 biolink:NamedThing subdural empyema An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the dura mater and the outer surface of the arachnoid. tmpaxzxjjyw_mondo_relaxed.owl subdural abscess UMLS:C0038539|EFO:1001196|MESH:D013354|MedDRA:10042360|SCTID:37660004|DOID:11389 owl:Class MONDO:0024619 biolink:NamedThing central nervous system infectious disorder An infectious process that affects the brain and/or spinal cord. Representative examples include encephalitis, poliomyelitis, arachnoiditis, and meningitis. tmpaxzxjjyw_mondo_relaxed.owl infections, central nervous system|central nervous system infection|infectious disease of central nervous system|central nervous system infectious disorder|central nervous system infectious disease UMLS:C0007684|ICD9:349.89|EFO:1001456|NCIT:C27582|MESH:D002494|SCTID:128117002 owl:Class MONDO:0012313 biolink:NamedThing short QT syndrome type 2 Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. tmpaxzxjjyw_mondo_relaxed.owl SQT2|KCNQ1 short QT syndrome|short QT syndrome caused by mutation in KCNQ1|short QT syndrome 2|short QT syndrome type 2 UMLS:C1865019|MESH:C566505|OMIM:609621 owl:Class MONDO:0000453 biolink:NamedThing short QT syndrome A genetic disease of the electrical system of the heart that consists of a constellation of signs and symptoms, consisting of a short QT interval on an EKG (< 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. Short QT syndrome appears to be inherited in an autosomal dominant pattern, and a few affected families have been identified tmpaxzxjjyw_mondo_relaxed.owl ventricular arrhythmia associated with short QT syndrome|familial short QT syndrome|short QT syndrome UMLS:C2348199|OMIM:609622|OMIM:609621|OMIM:609620|DOID:0050793|OMIMPS:609620|SCTID:698272007|ICD10:I49.8|ICD9:426.89|NCIT:C71060|Orphanet:51083|MESH:C580439 owl:Class MONDO:0024913 biolink:NamedThing cattle disease Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus. tmpaxzxjjyw_mondo_relaxed.owl cattle disease|disease, bovine|diseases, bovine|bovine diseases|disease, cattle|bovine disease|diseases, cattle MESH:D002418|UMLS:C0007453 owl:Class MONDO:0019095 biolink:NamedThing plague Plague is a severe bacterial infection caused by the gram-negative bacterium Yersinia pestis. tmpaxzxjjyw_mondo_relaxed.owl pestilential fever|black death|infection by Yersinia pestis|pest|Yersiniosis|plague MedDRA:10035148|ICD10:A20.2|ICD10:A20.7|ICD9:020|ICD10:A20.8|MESH:D010930|ICD10:A20.9|MESH:D015009|ICD9:136.8|ICD10:A20.1|ICD9:020.9|MedDRA:10061416|SCTID:58750007|DOID:3482|ICD10:A20|NCIT:C85015|UMLS:C0032064|ICD10:A20.3|Orphanet:707|ICD10:A20.0 owl:Class MONDO:0100120 biolink:NamedThing vector-borne disease An infectious disease where a pathogen is carried and transmitted by another organism that acts as disease vector. tmpaxzxjjyw_mondo_relaxed.owl vector-borne infectious disease|vector-borne infection https://orcid.org/0000-0002-2825-0621 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0048521 biolink:NamedThing negative regulation of behavior Any process that stops, prevents, or reduces the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. tmpaxzxjjyw_mondo_relaxed.owl down regulation of behavior|downregulation of behavior|down-regulation of behavior|inhibition of behavior owl:Class MONDO:0024323 biolink:NamedThing glomangiomyoma A morphologic variant of the glomus tumor with architectural features similar to solid glomus tumor. It is characterized by the presence of elongated glomus cells which resemble mature smooth muscle. tmpaxzxjjyw_mondo_relaxed.owl glomangiomyoma DOID:8020|UMLS:C0334422|NCIT:C4223|ICDO:8713/0 owl:Class MONDO:0003665 biolink:NamedThing cervical endometrioid adenocarcinoma A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium. tmpaxzxjjyw_mondo_relaxed.owl endometrioid adenocarcinoma of the cervix|endometrioid carcinoma of cervix uteri|endometrioid carcinoma of uterine cervix|cervical endometrioid carcinoma|endometrioid adenocarcinoma of cervix uteri|uterine cervix endometrioid adenocarcinoma|cervix endometrioid adenocarcinoma|uterine cervix endometrioid carcinoma|endometrioid adenocarcinoma of the uterine cervix|endometrioid carcinoma of cervix|endometrioid carcinoma of the cervix|endometrioid carcinoma of the cervix uteri|cervical endometrioid adenocarcinoma|endometrioid adenocarcinoma of cervix|endometrioid adenocarcinoma of uterine cervix|cervix uteri endometrioid carcinoma|endometrioid adenocarcinoma of the cervix uteri|cervix uteri endometrioid adenocarcinoma|cervix endometrioid carcinoma|endometrioid carcinoma of the uterine cervix ONCOTREE:CEEN|UMLS:C1332913|EFO:1000164|DOID:5830|NCIT:C6343 owl:Class MONDO:0005026 biolink:NamedThing endometrioid adenocarcinoma An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament. tmpaxzxjjyw_mondo_relaxed.owl endometrioid carcinoma|endometrioid adenocarcinoma|endometrioid carcinoma of female reproductive system|female reproductive endometrioid carcinoma|endometrioid carcinoma of the female reproductive system UMLS:C0206687|NCIT:C3769|UMLS:C1569637|EFO:0000466|ICDO:8380/3 owl:Class NCBITaxon:2697049 biolink:NamedThing Severe acute respiratory syndrome coronavirus 2 tmpaxzxjjyw_mondo_relaxed.owl SARS-2|HCoV-19|Human coronavirus 2019|2019-nCoV|SARS2|COVID-19 virus|COVID-19|COVID19|SARS-CoV-2|Wuhan coronavirus|SARS-CoV2 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:694009 biolink:NamedThing Severe acute respiratory syndrome-related coronavirus tmpaxzxjjyw_mondo_relaxed.owl SARSr-CoV|SARSrCoV|SARS-like coronavirus|SARS-related coronavirus|Human coronavirus (strain SARS)|Severe acute respiratory syndrome coronavirus|SARS virus|HCoV-SARS|SARS|SARS coronavirus GC_ID:1 NCBITaxon:227859|NCBITaxon:311178 ncbi_taxonomy owl:Class UBERON:0034670 biolink:NamedThing palatal taste bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018339 biolink:NamedThing PrP systemic amyloidosis Prion protein (PrP) systemic amyloidosis, previously known as chronic diarrhea with hereditary sensory and autonomic neuropathy is an extremely rare autosomal dominant disorder reported in three British families, a Japanese and an Italian family (about 16 cases in total). Onset is usually in the fourth decade of life and the course lasts about 20 years. Reported clinical manifestations include diarrhea, nausea, autonomic failure (areflexia, weakness), neurogenic bladder and urinary infections. The disorder is caused by truncation mutations of the prion protein gene PRNP (20p13) leading to deposition of prion protein amyloid. tmpaxzxjjyw_mondo_relaxed.owl chronic diarrhea with hereditary sensory and autonomic neuropathy|prion protein systemic amyloidosis|chronic diarrhea with HSAN SCTID:733422008|Orphanet:397606|ICD10:G60.8|UMLS:C4518776 owl:Class GO:0055082 biolink:NamedThing cellular chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical at the level of the cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019725 biolink:NamedThing cellular homeostasis Any process involved in the maintenance of an internal steady state at the level of the cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0005406 biolink:NamedThing Recurrent bacterial skin infections Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. tmpaxzxjjyw_mondo_relaxed.owl Recurrent episodes of infectious dermatitis|Recurrent bacterial skin infections|Recurrent pyogenic skin infections|Recurrent cutaneous pyogenic infections|Recurrent episodes of impetigo UMLS:C1835686 Infectious dermatitis may manifest as impetigo, multiple purulent blisters, erythema, lymphadenopathy near the site of infection. HP:0000983 human_phenotype owl:Class HP:0001581 biolink:NamedThing Recurrent skin infections Infections of the skin that happen multiple times. tmpaxzxjjyw_mondo_relaxed.owl Cutaneous infections|Recurrent skin infections|Skin infections, recurrent UMLS:C1853193 HP:0007563 human_phenotype owl:Class GO:0072522 biolink:NamedThing purine-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. tmpaxzxjjyw_mondo_relaxed.owl purine-containing compound synthesis|purine-containing compound biosynthesis|purine-containing compound anabolism|purine-containing compound formation|purine and derivative biosynthetic process owl:Class MONDO:0004212 biolink:NamedThing vulvar keratoacanthoma-like carcinoma A rapidly growing squamous cell carcinoma that arises from the vulva. It is self-limited and is characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. tmpaxzxjjyw_mondo_relaxed.owl vulvar squamous cell carcinoma, keratoacanthoma type UMLS:C1520086|DOID:7408|NCIT:C40288 owl:Class MONDO:0024609 biolink:NamedThing vulvar squamous cell carcinoma An invasive squamous cell carcinoma arising from the vulva. Risk factors include the human papilloma virus and cigarette smoking. Precursor lesions include the vulvar intraepithelial neoplasia, lichen sclerosus with associated squamous cell hyperplasia, and chronic granulomatous vulvar disease such as granuloma inguinale. Symptoms include vulvar pruritus or irritation, discharge, bleeding, and pain. The following morphologic variants have been identified: keratinizing, non-keratinizing, basaloid, warty, verrucous, keratoacanthoma-like, and squamous cell carcinoma with tumor giant cells. Risk factors for recurrence include advanced stage, tumor diameter greater than 2.5 cm, multifocality, capillary-like space involvement, associated vulvar intraepithelial neoplasia grades 2 or 3, and margins of resection involved by tumor. (WHO, 2003) tmpaxzxjjyw_mondo_relaxed.owl epidermoid carcinoma of vulva|squamous cell carcinoma of vulva|epidermoid cell carcinoma of vulva|vulva epidermoid cell carcinoma|vulvar epidermoid carcinoma|vulvar squamous cell cancer|epidermoid cell carcinoma of the vulva|vulva epidermoid carcinoma|epidermoid carcinoma of the vulva|squamous cell carcinoma of the vulva|vulva squamous cell carcinoma|vulvar squamous cell carcinoma|vulvar epidermoid cell carcinoma|mammalian vulva squamous cell carcinoma NCIT:C4052|SCTID:254895003|EFO:1000624|UMLS:C0280856|Orphanet:494448|DOID:2101 owl:Class MONDO:0010386 biolink:NamedThing immunodeficiency 33 Any immunodeficiency disease in which the cause of the disease is a mutation in the IKBKG gene. tmpaxzxjjyw_mondo_relaxed.owl invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG|NF-kappa B essential modulator deficiency|IKBKG X-linked mendelian susceptibility to mycobacterial diseases|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG|NEMO deficiency syndrome|IPD2|immunodeficiency type 33|X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency|X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency|immunodeficiency 33, Mycobacteriosis, X-linked|X-linked MSMD due to NEMO deficiency|X-linked MSMD due to IKBKG deficiency|IMD33|invasive pneumococcal disease, recurrent isolated, type 2|atypical Mycobacteriosis, familial, X-linked 1|IKBKG invasive pneumococcal disease, recurrent isolated|familial X-linked 1 atypical mycobacteriosis|invasive pneumococcal disease, recurrent isolated, 2 Orphanet:319605|OMIM:300636|Orphanet:319612|MESH:C567070|UMLS:C1970879|UMLS:C1845073|MESH:C564468|ICD10:D84.8|GARD:0012915 owl:Class MONDO:0000425 biolink:NamedThing X-linked disease X-linked form of disease. tmpaxzxjjyw_mondo_relaxed.owl genetic diseases, X linked|X-linked genetic disease|disease, X-linked genetic|X-linked hereditary disorder|genetic diseases, X chromosome linked|genetic disease, X-linked|X linked genetic diseases|X-linked inherited disease|X-linked disease or disorder|disease, X-linked|genetic diseases, X-chromosome linked|X-linked genetic diseases|diseases, X-linked genetic|disease or disorder, X-linked|X-linked inherited disorder|X-linked hereditary disease SCTID:128430005|UMLS:C2828000|DOID:0050735|NCIT:C85865|ICD9:799.89|UMLS:C1138434|MESH:D040181 owl:Class GO:0009607 biolink:NamedThing response to biotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a biotic stimulus, a stimulus caused or produced by a living organism. tmpaxzxjjyw_mondo_relaxed.owl response to biotic stress owl:Class MONDO:0024649 biolink:NamedThing optic tract astrocytoma An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. tmpaxzxjjyw_mondo_relaxed.owl optic tract astrocytoma (excluding glioblastoma)|optic tract astrocytoma|visual pathway astrocytoma|astrocytoma (excluding glioblastoma) of optic tract UMLS:C1336971|NCIT:C7533 owl:Class MONDO:0016167 biolink:NamedThing optic pathway glioma Optic pathway glioma (OPG) is a benign tumor that develop along the optic nerve (chiasm, tracts, and radiations) characterized by impairment or loss of vision and may be accompanied by diencephalic symptoms such as reduced growth and alteration in sleeping patterns. OPG are often linked to neurofibromatosis type 1 (NF1). tmpaxzxjjyw_mondo_relaxed.owl optic pathway glioma|glioma of the optic tract|optic tract glioma|glioma of the visual pathway|glioma of visual pathway|glioma of optic tract|visual pathway glioma ICD10:D33.3|GARD:0004107|NCIT:C8567|Orphanet:2086|UMLS:C0796418 https://rarediseases.info.nih.gov/diseases/4107/optic-pathway-glioma owl:Class MONDO:0001904 biolink:NamedThing polyneuropathy due to drug tmpaxzxjjyw_mondo_relaxed.owl DOID:14184|ICD9:357.6|ICD10:G62.0|UMLS:C0154762|SCTID:7339009 owl:Class MONDO:0001824 biolink:NamedThing polyneuropathy A disease or disorder affecting more than one nerve. tmpaxzxjjyw_mondo_relaxed.owl polyneuropathy MESH:D011115|ICD10:G62.9|ICD10:A69.22|NCIT:C26951|ICD9:356.9|UMLS:C0152025|DOID:1389|SCTID:42345000|ICD9:357.4 owl:Class MONDO:0008675 biolink:NamedThing freeman-Sheldon syndrome Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis. tmpaxzxjjyw_mondo_relaxed.owl distal arthrogryposis type 2A|arthrogryposis distal type 2A|freeman-Sheldon syndrome|Craniocarpotarsal dysplasia|craniocarpotarsal dysplasia|craniocarpotarsal dystrophy|cranio-carpo-tarsal syndrome|FSS|freeman Sheldon syndrome|DA2A|whistling face-windmill vane hand syndrome|whistling-face syndrome|arthrogryposis, distal, type 2A|windmill-vane-hand syndrome|whistling face syndrome|Craniocarpotarsal dystrophy OMIM:193700|MESH:C535483|NCIT:C98931|SCTID:52616002|OMIM:277720|GARD:0006466|Orphanet:2053|ICD10CM:Q87.0|OMIM:616266|DOID:0111604|ICD10:Q87.0|UMLS:C0265224 owl:Class CL:0002068 biolink:NamedThing Purkinje myocyte Specialized cardiac myocyte that is subendocardially interspersed with the regular cardiac muscle cell. They are uninucleate cylindrical cells, associated end-to-end in long rows, continue from the node to the atrioventricular bundle; relatively short compared to ordinary myocytes but are nearly twice their diameter. tmpaxzxjjyw_mondo_relaxed.owl Purkinje muscle cell|myocytus conducens cardiacus|Purkinje cell fiber BTO:0001032|FMA:14146 tmeehan 2010-06-28T08:36:15Z cell owl:Class CL:0002086 biolink:NamedThing specialized cardiac myocyte A cardiac myocyte that is an excitable cells in the myocardium, specifically in the conducting system of heart. tmpaxzxjjyw_mondo_relaxed.owl FMA:67968 tmeehan 2010-07-21T01:33:38Z cell owl:Class MONDO:0004947 biolink:NamedThing B-cell acute lymphoblastic leukemia A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called B acute lymphoblastic leukemia. When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl precursor B lymphoblastic lymphoma/leukemia|B lymphoblastic leukemia/lymphoma|precursor B lymphoblastic leukemia/lymphoma|precursor B-lymphoblastic lymphoma/leukemia SCTID:277571004|EFO:0000094|DOID:0080630|DOID:7061|NCIT:C8936 owl:Class MONDO:0004967 biolink:NamedThing acute lymphoblastic leukemia Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia. tmpaxzxjjyw_mondo_relaxed.owl precursor cell lymphoblastic leukemia|acute lymphoblastic leukemia/lymphoma|acute lymphocytic leukemias|acute lymphocytic leukaemia|acute lymphoblastic leukemia (disease)|acute lymphogenous leukemia|lymphoblastic leukemia, acute|lymphoblastic leukemia|ALL|acute lymphoid leukemia|precursor Lymphoblasic leukemia|precursor lymphoblastic leukemia|acute lymphoblastic leukemia|acute lymphocytic leukemia|acute lymphoblastic leukemia (ALL)|ALL - acute lymphocytic leukemia|leukemia, lymphoblastic, malignant acute lymphoblastic leukemia (disease) MESH:D007945|HP:0006721|ICD9:204.0|OMIM:247640|OMIM:613065|EFO:0000220|OMIM:613067|ICD10:C91.9|NCIT:C3167|ICD10:C91.00|ICD9:204.00|OMIM:615545|ICD10:C91|DOID:9952|ICD9:204.9|ICDO:9835/3|Orphanet:513|ICD9:204|SCTID:91857003|ICD10:C91.0|DOID:1037|GARD:0000522|UMLS:C0023448|ICD10:C91.90 owl:Class MONDO:0011925 biolink:NamedThing congenital merosin-deficient muscular dystrophy 1A Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting. tmpaxzxjjyw_mondo_relaxed.owl congenital muscular dystrophy caused by mutation in LAMA2|congenital merosin-deficient muscular dystrophy type 1A|muscular dystrophy, congenital merosin-deficient, type 1A|MDC1A|merosin-deficient congenital muscular dystrophy|merosin-negative congenital muscular dystrophy|muscular dystrophy, congenital merosin-deficient, 1A|congenital muscular dystrophy type 1A|merosin-deficient congenital muscular dystrophy type 1A|LAMA2-related muscular dystrophy|CMD1A|muscular dystrophy, congenital merosin-deficient|laminin alpha-2 deficiency|muscular dystrophy, congenital, due to partial LAMA2 deficiency|muscular dystrophy, congenital, merosin-deficient|congenital muscular dystrophy due to laminin alpha2 deficiency|LAMA2 congenital muscular dystrophy SCTID:111503008|DOID:0110636|NCIT:C118783|OMIM:607855|Orphanet:258|ICD10:G71.2|GARD:0003843|UMLS:C1263858|EFO:0009138 owl:Class MONDO:0019950 biolink:NamedThing congenital muscular dystrophy A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. tmpaxzxjjyw_mondo_relaxed.owl CMD|MDC|congenital MD ICD9:359.0|GARD:0009138|UMLS:C0699743|EFO:0006819|Orphanet:97242|UMLS:C0026850|OMIM:254100|ICD10:G71.2|SCTID:240059009|DOID:0050557 owl:Class ENVO:01000283 biolink:NamedThing lake layer A layer which is part of a lake. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000325 biolink:NamedThing aquatic layer A layer in a water mass, itself composed primarily of water. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009668 biolink:NamedThing ventral mesentery tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000315 biolink:NamedThing Abnormality of the orbital region tmpaxzxjjyw_mondo_relaxed.owl Malformation of the orbital region of the face|Deformity of the orbital region of the face|Abnormality of the eye region|Anomaly of the orbital region of the face|Abnormality of the region around the eyes UMLS:C4025863 HP:0000284 human_phenotype owl:Class HP:0000271 biolink:NamedThing Abnormality of the face An abnormality of the face. tmpaxzxjjyw_mondo_relaxed.owl Abnormal face|Disorder of face|Facial anomaly|Abnormality of the visage|Abnormality of the physiognomy|Disorder of the face|Abnormality of the face|Facial abnormality|Anomaly of face|Abnormality of the countenance|Anomaly of the face SNOMEDCT_US:118930001|UMLS:C0266617|SNOMEDCT_US:32003007|UMLS:C4025871|SNOMEDCT_US:398302004|UMLS:C1290857|SNOMEDCT_US:398206004 human_phenotype owl:Class CL:0002507 biolink:NamedThing langerin-positive lymph node dendritic cell A dermal dendritic cell isolated from skin draining lymph nodes that is langerin-positive, MHC-II-positive, and CD4-negative and CD8a-negative. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-01-21T01:57:00Z cell owl:Class CL:0000990 biolink:NamedThing conventional dendritic cell Conventional dendritic cell is a dendritic cell that is CD11c-high. tmpaxzxjjyw_mondo_relaxed.owl dendritic reticular cell|DC1|veiled cell|type 1 DC|cDC|interdigitating cell FMA:84191 Originally described in the dendritic cell ontology (DC_CL:0000003)(PMID:19243617) These cells are also CD20-negative, MHCII-positive. cell owl:Class GO:1903725 biolink:NamedThing regulation of phospholipid metabolic process Any process that modulates the frequency, rate or extent of phospholipid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of phospholipid metabolism owl:Class GO:0019220 biolink:NamedThing regulation of phosphate metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. tmpaxzxjjyw_mondo_relaxed.owl regulation of phosphate metabolism owl:Class GO:0032689 biolink:NamedThing negative regulation of interferon-gamma production Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of type II interferon production|downregulation of interferon-gamma production|down regulation of interferon-gamma production|inhibition of interferon-gamma production|negative regulation of interferon-gamma secretion|down-regulation of interferon-gamma production|negative regulation of interferon-gamma biosynthetic process owl:Class UBERON:8000006 biolink:NamedThing left side of back tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004082 biolink:NamedThing childhood immature teratoma of ovary An immature teratoma that arises from the ovary and occurs in children. tmpaxzxjjyw_mondo_relaxed.owl pediatric immature teratoma of the ovary|pediatric ovarian immature teratoma|childhood immature teratoma of the ovary|pediatric immature teratoma of ovary|childhood immature ovarian teratoma|immature ovarian teratoma of childhood|childhood ovarian immature teratoma|pediatric immature ovarian teratoma DOID:7037|NCIT:C6547|UMLS:C1332990 owl:Class MONDO:0003819 biolink:NamedThing childhood teratoma of the ovary A mature or immature teratoma that arises from the ovary and occurs in children. tmpaxzxjjyw_mondo_relaxed.owl childhood teratoma of the ovary|pediatric teratoma of ovary|childhood ovarian teratoma|pediatric teratoma of the ovary|ovarian teratoma of childhood|pediatric ovarian teratoma|childhood teratoma of ovary NCIT:C6554|DOID:6230|UMLS:C1332992 owl:Class MONDO:0003497 biolink:NamedThing renal pelvis squamous cell carcinoma A squamous cell carcinoma that involves the renal pelvis. tmpaxzxjjyw_mondo_relaxed.owl renal pelvis squamous cell carcinoma|squamous cell carcinoma of kidney pelvis|renal pelvis squamous cell cancer|squamous cell carcinoma of the renal pelvis|epidermoid carcinoma of kidney pelvis|kidney pelvis squamous cell carcinoma|epidermoid carcinoma of renal pelvis|squamous cell carcinoma of the kidney pelvis|epidermoid carcinoma of the kidney pelvis|kidney pelvis epidermoid carcinoma|epidermoid carcinoma of the renal pelvis|kidney renal pelvis squamous cell cancer|renal pelvis epidermoid carcinoma|squamous cell carcinoma of renal pelvis DOID:5534|NCIT:C7732|UMLS:C0238409 owl:Class HGNC:9210 biolink:NamedThing POU1F1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021390 biolink:NamedThing polyp of ureter A polyp that involves the ureter. tmpaxzxjjyw_mondo_relaxed.owl ureter polyp|ureteral polyp|polyp of the ureter ICD9:593.89|NCIT:C4530|SCTID:197821004|UMLS:C0346269 owl:Class UBERON:0020358 biolink:NamedThing accessory XI nerve nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007635 biolink:NamedThing nucleus of medulla oblongata tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017635 biolink:NamedThing parkinsonian syndrome due to neurodegenerative disease tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN203530|Orphanet:306666 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: parkinsonian disorder' MONDO_0021095 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0021095 biolink:NamedThing parkinsonian disorder A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA. tmpaxzxjjyw_mondo_relaxed.owl MESH:D020734 Editor note: TODO owl:Class UBERON:0007239 biolink:NamedThing tunica media of artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002522 biolink:NamedThing tunica media tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0014047 biolink:NamedThing glutamate secretion The controlled release of glutamate by a cell. The glutamate is the most abundant excitatory neurotransmitter in the nervous system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032940 biolink:NamedThing secretion by cell The controlled release of a substance by a cell. tmpaxzxjjyw_mondo_relaxed.owl cellular secretion owl:Class MONDO:0024310 biolink:NamedThing angiodysplasia of stomach A angiodysplasia that involves the stomach. tmpaxzxjjyw_mondo_relaxed.owl gastric angiodysplasia|stomach angiodysplasia|gastric vascular dysplasia UMLS:C0744273|SCTID:424802006 owl:Class MONDO:0002322 biolink:NamedThing angiodysplasia Acquired degenerative dilation or expansion (ectasia) of normal blood vessels, often associated with aging. They are isolated, tortuous, thin-walled vessels and sources of bleeding. They occur most often in mucosal capillaries of the gastrointestinal tract leading to gastrointestinal hemorrhage and anemia. tmpaxzxjjyw_mondo_relaxed.owl angiodysplasia of stomach and duodenum with hemorrhage DOID:2494|MESH:D016888|SCTID:90858003|ICD9:537.83|UMLS:C0085411 owl:Class GO:0045724 biolink:NamedThing positive regulation of cilium assembly Any process that activates or increases the frequency, rate or extent of the formation of a cilium. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of flagellum assembly|activation of cilium assembly|up-regulation of cilium assembly|positive regulation of flagellum biogenesis|up regulation of cilium assembly|upregulation of cilium assembly|stimulation of cilium assembly owl:Class GO:1902017 biolink:NamedThing regulation of cilium assembly Any process that modulates the frequency, rate or extent of cilium assembly. tmpaxzxjjyw_mondo_relaxed.owl regulation of cilium biogenesis|regulation of ciliogenesis owl:Class HGNC:9449 biolink:NamedThing PRNP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006291 biolink:NamedThing malignant jugulotympanic paraganglioma A jugulotympanic paraganglioma that metastasizes to other anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the glomus jugulare|malignant glomus jugulare tumor|malignant glomus jugulare neoplasm|malignant jugular body neoplasm|malignant tumor of the glomus jugulare|malignant neoplasm of jugular body|malignant neoplasm of glomus jugulare|jugular body cancer|cancer of jugular body|malignant jugulotympanic paraganglioma|malignant tumor of glomus jugulare UMLS:C0347856|EFO:1000353|NCIT:C4623 owl:Class MONDO:0008708 biolink:NamedThing acrocallosal syndrome Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl Schinzel acrocallosal syndrome|absence of corpus callosum with unusual facial appearance, mental deficiency, duplication of the halluces and polydactyly|ACLS|acrocallosal syndrome, Schinzel type|ACS|Joubert syndrome 12|acrocallosal syndrome|hallux Duplication, postaxial polydactyly, and absence of corpus callosum|Schinzel syndrome 1|Joubert syndrome 12/15, digenic GARD:0005721|DOID:9250|MESH:D055673|UMLS:C0796147|Orphanet:36|ICD10:Q04.0|OMIM:200990|NCIT:C84531|SCTID:715951007 owl:Class UBERON:0007105 biolink:NamedThing vitelline duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000025 biolink:NamedThing tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013750 biolink:NamedThing metaphysis of tibia tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001497 biolink:NamedThing male genital organ vascular disease tmpaxzxjjyw_mondo_relaxed.owl vascular disorder of male genital organs SCTID:198057005|DOID:12335|ICD9:608.83|ICD10:N50.1|UMLS:C0042374 owl:Class MONDO:0003150 biolink:NamedThing male reproductive system disorder A disease involving the male reproductive system. tmpaxzxjjyw_mondo_relaxed.owl male reproductive system disease or disorder|male reproductive system disease|Male reproductive system disease|male reproductive disease|Male reproductive system disorder|disorder of Male reproductive system|disease or disorder of male reproductive system|disease of male reproductive system|disorder of male reproductive system MESH:D005832|ICD10:N40.N51|DOID:48|ICD9:608.9|ICD10:N50.9|ICD9:600-608.99|SCTID:363194005|NCIT:C27019 owl:Class CHEBI:36132 biolink:NamedThing alicyclic ketone A cyclic ketone in which the carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system. tmpaxzxjjyw_mondo_relaxed.owl alicyclic ketones|alicyclic ketone owl:Class CHEBI:3992 biolink:NamedThing cyclic ketone tmpaxzxjjyw_mondo_relaxed.owl cyclic ketones|Cyclic ketone owl:Class MONDO:0000263 biolink:NamedThing laryngotracheitis An inflammation of both larynx and trachea. tmpaxzxjjyw_mondo_relaxed.owl ICD9:476.1|ICD10:J37.1|ICD10:J04.2|SCTID:55130001|ICD9:464.2|DOID:0050148|ICD10:J04|ICD9:464|UMLS:C0023076 owl:Class GO:0045981 biolink:NamedThing positive regulation of nucleotide metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. tmpaxzxjjyw_mondo_relaxed.owl stimulation of nucleotide metabolic process|positive regulation of nucleotide metabolism|up regulation of nucleotide metabolic process|upregulation of nucleotide metabolic process|up-regulation of nucleotide metabolic process|activation of nucleotide metabolic process owl:Class GO:0006140 biolink:NamedThing regulation of nucleotide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. tmpaxzxjjyw_mondo_relaxed.owl regulation of nucleotide metabolism owl:Class MONDO:0021440 biolink:NamedThing benign neoplasm of skin A benign neoplasm that involves the zone of skin. tmpaxzxjjyw_mondo_relaxed.owl zone of skin benign neoplasm|benign tumor of the skin|benign neoplasm of the skin|benign cutaneous tumor|benign tumor of skin|benign cutaneous neoplasm|skin neoplasms, benign|benign skin tumor|benign skin neoplasm SCTID:92384009|UMLS:C0004998|ICD9:216.9|ICD9:216.8|NCIT:C2896 owl:Class MONDO:0002531 biolink:NamedThing skin neoplasm A benign or malignant tumor involving the skin. Representative examples of benign skin neoplasms include the benign melanocytic skin nevus, acanthoma, sebaceous adenoma, sweat gland adenoma, lipoma, hemangioma, fibroma, and benign fibrous histiocytoma. Representative examples of malignant skin neoplasms include basal cell carcinoma, squamous cell carcinoma, melanoma, and Kaposi sarcoma. tmpaxzxjjyw_mondo_relaxed.owl skin benign neoplasm|neoplasm of skin|neoplasm of skin by site|zone of skin tumor|neoplasm of the skin|skin neoplasms|skin tumor|zone of skin neoplasm (disease)|skin neoplasm|skin|tumor of zone of skin|zone of skin neoplasm|tumor of the skin|neoplasm of zone of skin|tumor of skin EFO:0004198|UMLS:C0037286|MESH:D012878|ICD9:239.2|SCTID:126488004|NCIT:C3372|ONCOTREE:SKIN|DOID:3165 owl:Class MONDO:0024610 biolink:NamedThing parasitic skin disorder Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites. tmpaxzxjjyw_mondo_relaxed.owl parasitic skin diseases|disease, parasitic skin|diseases, parasitic skin|parasitic skin disease|skin disease, parasitic MESH:D012876|UMLS:C0037280 owl:Class MONDO:0024294 biolink:NamedThing skin disorder caused by infection Skin diseases caused by bacteria, fungi, parasites, or viruses. tmpaxzxjjyw_mondo_relaxed.owl diseases, infectious skin|infectious skin disease|infectious skin diseases|disease, infectious skin|skin disease, infectious MESH:D012874 owl:Class MONDO:0033673 biolink:NamedThing spermatogenic failure 46 tmpaxzxjjyw_mondo_relaxed.owl SPGF46 OMIM:619095 owl:Class GO:0050776 biolink:NamedThing regulation of immune response Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007966 biolink:NamedThing susceptibility to uveal melanoma tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220633|Orphanet:39044 https://github.com/monarch-initiative/mondo/issues/2656 owl:Class MONDO:0000181 biolink:NamedThing microcephaly and chorioretinopathy tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:251270 Note that OMIM has two PS that appear to refer to the same thing owl:Class MONDO:0004674 biolink:NamedThing chorioretinitis Inflammation of the distal posterior uveal tract (choroid) and its structural and vascular attachments to the retina. It is usually caused by infection and though rare, it is clinically significant due to its most serious sequela: loss of vision. tmpaxzxjjyw_mondo_relaxed.owl chorioretinitis (disease)|retinochoroiditis|chorioretinitis chorioretinitis (disease) HP:0012424|ICD10:H30.9|UMLS:C0008513|ICD9:363.20|DOID:8886|GARD:0006060|NCIT:C110923|MESH:D002825|SCTID:46627006|ICD10:H30 owl:Class GO:2000833 biolink:NamedThing positive regulation of steroid hormone secretion Any process that activates or increases the frequency, rate or extent of steroid hormone secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032370 biolink:NamedThing positive regulation of lipid transport Any process that activates or increases the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of lipid transport|stimulation of lipid transport|activation of lipid transport|up regulation of lipid transport|upregulation of lipid transport owl:Class MONDO:0014473 biolink:NamedThing microcephaly 13, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene. tmpaxzxjjyw_mondo_relaxed.owl CENPE autosomal recessive primary microcephaly|microcephaly 13, primary, autosomal recessive|MCPH13|autosomal recessive primary microcephaly caused by mutation in CENPE OMIM:616051|UMLS:C4015080|DOID:0070283|Orphanet:808 owl:Class MONDO:0016660 biolink:NamedThing autosomal recessive primary microcephaly Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. tmpaxzxjjyw_mondo_relaxed.owl microcephaly vera|MCPH|microcephaly, primary, autosomal recessive|microcephalia vera|true microcephaly|microcephaly, primary autosomal recessive UMLS:C3711387|DOID:0070296|OMIM:616681|MESH:C579935|SCTID:715981004|ICD10:Q02|OMIM:604317|OMIM:603802|OMIMPS:251200|OMIM:616402|OMIM:616486|OMIM:612703|OMIM:604804|OMIM:615414|OMIM:608716|Orphanet:2512|OMIM:617090|OMIM:616080|OMIM:614852|OMIM:604321|OMIM:614673|OMIM:251200|GARD:0012117|OMIM:608393 https://rarediseases.info.nih.gov/diseases/12117/autosomal-recessive-primary-microcephaly owl:Class MONDO:0020111 biolink:NamedThing constitutional megaloblastic anemia due to folate metabolism disorder tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 ICD10:D52.8|UMLS:CN227786|Orphanet:98408 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: HP_0001889 Megaloblastic anemia' HP_0001889 owl:Class MONDO:0016624 biolink:NamedThing inherited deficiency anemia tmpaxzxjjyw_mondo_relaxed.owl constitutional rare deficiency anemia Orphanet:248296 owl:Class HGNC:4713 biolink:NamedThing H19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019206 biolink:NamedThing tongue papilla epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009557 biolink:NamedThing mandibuloacral dysplasia with type A lipodystrophy A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk. tmpaxzxjjyw_mondo_relaxed.owl Mandibuloacral dysplasia with type a lipodystrophy, atypical|MADA|mandibuloacral dysplasia with type A lipodystrophy|lipodystrophy, type A, associated with Mandibuloacral dysplasia|MANDIBULOACRAL dysplasia with type A lipodystrophy|craniomandibular Dermatodysostosis SCTID:109419009|MESH:C535705|Orphanet:90153|OMIM:248370|Orphanet:2457|ICD10:Q87.5|NCIT:C123417|UMLS:CN236772|GARD:0003374|UMLS:CN206381 https://rarediseases.info.nih.gov/diseases/3374/mandibuloacral-dysplasia-with-type-a-lipodystrophy owl:Class MONDO:0016584 biolink:NamedThing mandibuloacral dysplasia Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy. tmpaxzxjjyw_mondo_relaxed.owl MAD|mandibuloacral dysplasia with lipodystrophy OMIM:608612|GARD:0011893|OMIM:248370|Orphanet:2457|UMLS:CN118835|ICD10:Q87.5|OMIMPS:248370 owl:Class MONDO:0005074 biolink:NamedThing papillary cystadenocarcinoma A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present. tmpaxzxjjyw_mondo_relaxed.owl papillary cystadenocarcinoma (morphologic abnormality)|cystadenocarcinoma, papillary, malignant|papillary cystadenocarcinoma|papillary cystadenocarcinoma, NOS (morphologic abnormality) EFO:0000639|GARD:0010162|NCIT:C3777|UMLS:C0206700|DOID:3110|MESH:D018283|ICDO:8450/3 https://rarediseases.info.nih.gov/diseases/10162/papillary-cystadenocarcinoma owl:Class MONDO:0006349 biolink:NamedThing papillary cystic neoplasm A benign, malignant, or borderline neoplasm characterized by the presence of papillary mucinous, serous, or clear cell structures and cystic structures. tmpaxzxjjyw_mondo_relaxed.owl papillary cystic tumor|papillary cystic neoplasm EFO:1000448|NCIT:C4179|UMLS:C0334357 owl:Class GO:0032941 biolink:NamedThing secretion by tissue The controlled release of a substance by a tissue. tmpaxzxjjyw_mondo_relaxed.owl tissue secretion|expulsion of gland contents owl:Class GO:0032501 biolink:NamedThing multicellular organismal process Any biological process, occurring at the level of a multicellular organism, pertinent to its function. tmpaxzxjjyw_mondo_relaxed.owl single-multicellular organism process|organismal physiological process owl:Class MONDO:0021392 biolink:NamedThing polyp of large intestine A polyp that involves the large intestine. tmpaxzxjjyw_mondo_relaxed.owl colorectal polyp|large bowel polyp|polyp of the large bowel|large intestine polyp|polyp of large bowel|polyp of the large intestine SCTID:399505005|UMLS:C0949059|NCIT:C5679 owl:Class MONDO:0024634 biolink:NamedThing large intestine disorder A disease that involves the large intestine. tmpaxzxjjyw_mondo_relaxed.owl large intestine disease or disorder|disease or disorder of large intestine|disorder of large intestine|disease of large intestine SCTID:119523007|UMLS:C0341321 owl:Class CHEBI:35341 biolink:NamedThing steroid Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene which is a triterpene.|Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene, so may be considered as triterpenoids. tmpaxzxjjyw_mondo_relaxed.owl Steroid|a steroid|steroids owl:Class CHEBI:18059 biolink:NamedThing lipid 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. tmpaxzxjjyw_mondo_relaxed.owl lipids|Lipid owl:Class HGNC:1884 biolink:NamedThing CFTR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011901 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement. tmpaxzxjjyw_mondo_relaxed.owl Charcot Marie Tooth disease type 2H|CMT 2H|axonal Charcot-Marie-Tooth disease with pyramidal involvement|Charcot-Marie-Tooth disease type 2H|Charcot-Marie-Tooth disease, axonal, with pyramidal features, autosomal recessive|CMT2H|autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features|autosomal recessive axonal CMT4C2|Charcot-Marie-Tooth neuropathy, axonal, with pyramidal features, autosomal recessive|AR-CMT2C|Charcot-Marie-Tooth disease, axonal, type 2H|autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features ICD10:G60.0|OMIM:607731|SCTID:720637005|Orphanet:101102|DOID:0110166|MESH:C535415|UMLS:C1843173|GARD:0009196 Not in the OMIM series. owl:Class MONDO:0019601 biolink:NamedThing autosomal recessive axonal hereditary motor and sensory neuropathy Autosomal recessive form of axonal hereditary motor and sensory neuropathy. tmpaxzxjjyw_mondo_relaxed.owl axonal hereditary motor and sensory neuropathy, autosomal recessive|AR-CMT2|autosomal recessive axonal Charcot-Marie-Tooth disease type 2 ICD10:G60.0|UMLS:CN206449|Orphanet:91024 owl:Class MONDO:0008461 biolink:NamedThing splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells tmpaxzxjjyw_mondo_relaxed.owl splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells OMIM:183350|MESH:C566666|UMLS:C1866744 owl:Class MONDO:0002999 biolink:NamedThing central nervous system germinoma A malignant germ cell tumor arising from the central nervous system. It is composed of uniform cells resembling primitive germ cells. These cells have large, vesicular nuclei, prominent nucleoli and a clear, glycogen-rich cytoplasm. Additional features are lymphoid or lymphoplasmacytic infiltrates and, less frequently, scattered syncytiotrophoblastic giant cells. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl central nervous system germinoma (disease)|germinoma of central nervous system|intracranial germinoma|central nervous system germinoma|germinoma of the CNS|germinoma of the central nervous system|germinoma of CNS NCIT:C7009|DOID:4438 owl:Class MONDO:0002598 biolink:NamedThing germinoma A malignant germ cell tumor arising in the central nervous system. It is characterized by the presence of primitive, large malignant germ cells and lymphocytes. tmpaxzxjjyw_mondo_relaxed.owl germinoma|germinoma (disease) germinoma (disease) ICDO:9064/3|NCIT:C3753|MESH:D018237|ONCOTREE:GMN|HP:0100620|UMLS:C0206660|DOID:3304 owl:Class MONDO:0100068 biolink:NamedThing SLC10A7-CDG SLC10A7 deficiency is characterized by compound heterozygous mutations in the SLC10A7 gene, a gene of unknown function in humans. It combines overlapping clinical phenotypes characterized by short stature, defective enamel formation (amelogenesis imperfecta), skeletal dysplasia, facial dysmorphism, moderate hearing impairment and mildly impaired intellectual developmen. tmpaxzxjjyw_mondo_relaxed.owl SLC10A7-Congenital Disorder of Glycosylation|SLC10A7 deficiency 2018-12-14 19:28:28+00:00 owl:Class UBERON:0004819 biolink:NamedThing kidney epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100194 biolink:NamedThing pregnancy associated osteoporosis A severe early presentation of osteoporosis in which young women experience low trauma or spontaneous fractures, most commonly vertebral fractures, during late pregnancy or lactation. tmpaxzxjjyw_mondo_relaxed.owl pregnancy and lactation-associated osteoporosis http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0005298 biolink:NamedThing osteoporosis A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss). tmpaxzxjjyw_mondo_relaxed.owl fracture, hip, susceptibility to|osteoporosis, involutional ICD10:M81|EFO:0003882|ICD9:733.0|UMLS:C0029458|OMIM:166710|ICD9:733.00|SCTID:64859006|ICD10:M81.0|NCIT:C3298|MESH:D010024|DOID:11476|ICD9:733.09|GARD:0011932|MESH:D015663 owl:Class MONDO:0003782 biolink:NamedThing uterine corpus epithelioid leiomyosarcoma A morphologic variant of leiomyosarcoma arising from the uterine corpus. It is characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl epithelioid leiomyosarcoma of body of uterus|uterine corpus epithelioid leiomyosarcoma|uterine epithelioid leiomyosarcoma|body of uterus epithelioid leiomyosarcoma UMLS:C1519851|NCIT:C40174|ONCOTREE:UELMS|DOID:6139 Editor note: check ONCOTREE mapping owl:Class MONDO:0016262 biolink:NamedThing leiomyosarcoma of the corpus uteri An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of corpus uteri|leiomyosarcoma of the uterine corpus|body of uterus leiomyosarcoma|leiomyosarcoma of the uterine body|leiomyosarcoma of uterine corpus|leiomyosarcoma of uterus|leiomyosarcoma of the uterus|uterine body leiomyosarcoma|leiomyosarcoma - uterus|leiomyosarcoma of the body of uterus|leiomyosarcoma of body of uterus|leiomyosarcoma of the corpus uteri|uterus leiomyosarcoma|leiomyosarcoma of uterine body|uterine leiomyosarcoma|uterine corpus leiomyosarcoma|corpus uteri leiomyosarcoma Orphanet:213625|NCIT:C6340|DOID:5289|ICD10:C54.2|SCTID:447389009|ONCOTREE:ULMS|UMLS:C0280631 owl:Class MONDO:0009966 biolink:NamedThing NPHP3-related Meckel-like syndrome tmpaxzxjjyw_mondo_relaxed.owl renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome|Meckel syndrome, type 7|Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia|MKS7|renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst|NPHP3-related Meckel-like syndrome|Meckel-Gruber syndrome, type 7|Meckel syndrome type 7|Goldston syndrome|Meckel syndrome 7|Meckel-like syndrome type 1 OMIM:267010|UMLS:C2673885|MESH:C537756|GARD:0004665|ICD10:Q61.9|PMID:18371931|DOID:0070121|Orphanet:3032 https://rarediseases.info.nih.gov/diseases/4665/dandy-walker-cyst-with-renal-hepatic-pancreatic-dysplasia owl:Class MONDO:0018921 biolink:NamedThing Meckel syndrome A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. tmpaxzxjjyw_mondo_relaxed.owl Meckel-Gruber syndrome OMIM:613885|ICD10:Q61.9|OMIM:612284|OMIM:249000|OMIM:614209|ICD9:759.89|SCTID:29076005|OMIMPS:249000|OMIM:614175|UMLS:C0265215|DOID:0050778|GARD:0003436|NCIT:C98978|ICD9:753.10|OMIM:603194|Orphanet:564|OMIM:267010|OMIM:611134|OMIM:615397|OMIM:611561|OMIM:607361|ICD9:753.1 owl:Class MONDO:0011443 biolink:NamedThing febrile seizures, familial, 4 Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene. tmpaxzxjjyw_mondo_relaxed.owl ADGRV1 febrile seizures, familial|febrile seizures, familial caused by mutation in ADGRV1|febrile seizures, familial, 4|febrile seizures, familial, type 4|convulsions, familial febrile, 4|FEB4 UMLS:C1858493|OMIM:604352|DOID:0111305|MESH:C565788 owl:Class MONDO:0018516 biolink:NamedThing epithelial tumor of anal canal A epithelial neoplasm that involves the anal canal. tmpaxzxjjyw_mondo_relaxed.owl anal canal epithelial neoplasm Orphanet:424010|UMLS:CN237521 owl:Class MONDO:0012988 biolink:NamedThing hypogonadotropic hypogonadism 6 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene. tmpaxzxjjyw_mondo_relaxed.owl Kallmann syndrome 6|hypogonadotropic hypogonadism caused by mutation in FGF8|HH6|KAL6|hypogonadotropic hypogonadism 6 with or without anosmia|FGF8 hypogonadotropic hypogonadism GARD:0010774|ICD10:E23.0|OMIM:612702|DOID:0090086|UMLS:C3552574|MESH:C567199 https://rarediseases.info.nih.gov/diseases/10774/kallmann-syndrome-6 owl:Class MONDO:0018800 biolink:NamedThing Kallmann syndrome Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs). tmpaxzxjjyw_mondo_relaxed.owl Olfacto-genital pathological sequence|Kallman syndrome|hypogonadotropic hypogonadism with anosmia|familial hypogonadism with anosmia|hypogonadism with anosmia|congenital hypogonadotropic hypogonadism with anosmia|Kallman's syndrome OMIM:610628|OMIM:615266|OMIM:612702|OMIM:614838|OMIM:614880|OMIM:614897|MedDRA:10053142|OMIM:615269|OMIM:147950|SCTID:93559003|ICD9:253.4|OMIM:244200|OMIM:614858|DOID:3614|OMIM:614840|OMIM:616030|OMIM:615267|MESH:D017436|GARD:0010771|Orphanet:478|OMIM:615271|OMIM:308700|ICD10:E23.0|UMLS:C0162809|OMIM:615270|OMIM:614837|NCIT:C75479|SCTID:33927004|OMIM:612370 owl:Class MONDO:0016130 biolink:NamedThing fungal myositis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0410251|SCTID:240111007|ICD10:M60.0|Orphanet:207000 owl:Class MONDO:0002041 biolink:NamedThing fungal infectious disease An infection caused by a fungus. tmpaxzxjjyw_mondo_relaxed.owl Fungi disease or disorder|mycoses|Fungi caused disease or disorder|Fungi infection|infections, Fungi|Fungi infectious disease|fungal infection|infection, fungal|mycosis ICD9:117.9|ICD10:B35.B49|ICD10:B35-B49|ICD9:110-118.99|NCIT:C3245|SCTID:3218000|MESH:D009181|ICD10:B49|DOID:1564 owl:Class GO:1905788 biolink:NamedThing negative regulation of detection of mechanical stimulus involved in sensory perception of touch Any process that stops, prevents or reduces the frequency, rate or extent of detection of mechanical stimulus involved in sensory perception of touch. tmpaxzxjjyw_mondo_relaxed.owl down regulation of perception of touch, sensory transduction of mechanical stimulus|negative regulation of perception of touch, detection of mechanical stimulus|down regulation of sensory transduction of mechanical stimulus during perception of touch|down regulation of tactition, sensory detection of mechanical stimulus|down regulation of detection of mechanical stimulus involved in sensory perception of touch|inhibition of sensory detection of mechanical stimulus during perception of touch|down-regulation of perception of touch, sensory detection of mechanical stimulus|downregulation of perception of touch, sensory detection of mechanical stimulus|downregulation of perception of touch, detection of mechanical stimulus|inhibition of sensory transduction of mechanical stimulus during perception of touch|downregulation of perception of touch, sensory transduction of mechanical stimulus|downregulation of tactition, sensory detection of mechanical stimulus|down regulation of perception of touch, detection of mechanical stimulus|inhibition of detection of mechanical stimulus involved in sensory perception of touch|negative regulation of sensory transduction of mechanical stimulus during perception of touch|down-regulation of tactition, sensory detection of mechanical stimulus|down-regulation of sensory transduction of mechanical stimulus during perception of touch|downregulation of sensory detection of mechanical stimulus during perception of touch|down-regulation of perception of touch, sensory transduction of mechanical stimulus|inhibition of perception of touch, sensory detection of mechanical stimulus|downregulation of detection of mechanical stimulus involved in sensory perception of touch|down-regulation of sensory detection of mechanical stimulus during perception of touch|down regulation of perception of touch, sensory detection of mechanical stimulus|negative regulation of tactition, sensory detection of mechanical stimulus|negative regulation of perception of touch, sensory transduction of mechanical stimulus|down-regulation of perception of touch, detection of mechanical stimulus|inhibition of tactition, sensory detection of mechanical stimulus|inhibition of perception of touch, sensory transduction of mechanical stimulus|negative regulation of sensory detection of mechanical stimulus during perception of touch|inhibition of perception of touch, detection of mechanical stimulus|negative regulation of perception of touch, sensory detection of mechanical stimulus|down regulation of sensory detection of mechanical stimulus during perception of touch|downregulation of sensory transduction of mechanical stimulus during perception of touch|down-regulation of detection of mechanical stimulus involved in sensory perception of touch owl:Class GO:0032102 biolink:NamedThing negative regulation of response to external stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an external stimulus. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of response to external stimulus|downregulation of response to external stimulus|down regulation of response to external stimulus|inhibition of response to external stimulus owl:Class MONDO:0011707 biolink:NamedThing familial dyskinesia and facial myokymia Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. tmpaxzxjjyw_mondo_relaxed.owl ADCY5-related dyskinesia|FDFM|dyskinesia, familial, with facial myokymia MESH:C564676|GARD:0012722|Orphanet:324588|OMIM:606703|UMLS:C1847627|SCTID:763352005|ICD10:G51.4 owl:Class CL:0000339 biolink:NamedThing glioblast (sensu Vertebrata) An early neural cell developing from the early ependymal cell of the neural tube. tmpaxzxjjyw_mondo_relaxed.owl spongioblast FMA:70564 cell owl:Class CL:0000030 biolink:NamedThing glioblast tmpaxzxjjyw_mondo_relaxed.owl FBbt:00005145 cell owl:Class MONDO:0021678 biolink:NamedThing gram-negative bacterial infections Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method. tmpaxzxjjyw_mondo_relaxed.owl infections, gram-negative bacterial|gram negative bacterial infections|infections, gram negative bacterial|bacterial infections, gram negative|infection, gram-negative bacterial|bacterial infections, gram-negative|bacterial infection, gram-negative|gram-negative bacterial infection ICD9:041.85|SCTID:371583007|MESH:D016905 Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now owl:Class MONDO:0001785 biolink:NamedThing malignant secondary hypertension tmpaxzxjjyw_mondo_relaxed.owl SCTID:89242004|ICD9:405.0|UMLS:C0155617|ICD9:405.09|DOID:13731 owl:Class MONDO:0001200 biolink:NamedThing secondary hypertension High blood pressure caused by an underlying medical condition. tmpaxzxjjyw_mondo_relaxed.owl DOID:11130|ICD9:405.99|ICD9:405.9|SCTID:31992008|ICD10:I15.9|ICD10:I15|NCIT:C3657|ICD9:405|EFO:1002034|UMLS:C0155616 owl:Class MONDO:0006940 biolink:NamedThing radial nerve lesion A peripheral nerve lesion that involves the radial nerve. tmpaxzxjjyw_mondo_relaxed.owl radial nerve lesions|radial nerve peripheral nerve lesion|peripheral nerve lesion of radial nerve|lesion of radial nerve ICD9:354.3|EFO:1001143|MedDRA:10061477|SCTID:16644004|UMLS:C0154744|ICD10:G56.30|DOID:12170|MESH:D020425|SCTID:193137006|ICD10:G56.3 owl:Class MONDO:0006682 biolink:NamedThing brachial plexus neuritis An inflammatory process affecting the brachial plexus. It results in severe pain in the upper extremity and shoulder, upper arm weakness and loss of sensation in the upper arm. tmpaxzxjjyw_mondo_relaxed.owl acute brachial radiculitis syndrome|acute brachial neuritis syndrome|brachial neuritis|acute brachial neuritis|parsonage-Aldren-Turner syndrome|parsonage Turner syndrome|idiopathic neuralgic amyotrophy|neuritis of brachial nerve plexus|brachial nerve plexus neuritis|acute shoulder neuritis DOID:3689|ICD10:G54.5|SCTID:26609002|MESH:D020968|EFO:1000843|MedDRA:10073002|SCTID:3548001|NCIT:C84600|SCTID:72893007|ICD9:723.4|GARD:0004228 owl:Class MONDO:0011349 biolink:NamedThing osteoma of cranial vault, familial tmpaxzxjjyw_mondo_relaxed.owl osteoma of cranial vault, familial UMLS:C1863677|MESH:C566356|OMIM:603600 owl:Class HGNC:8621 biolink:NamedThing PAX7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004908 biolink:NamedThing upper digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003311 biolink:NamedThing endometrial stromal tumor Neoplasms of the endometrial stroma that sometimes involve the myometrium. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (sarcoma, endometrial stromal). tmpaxzxjjyw_mondo_relaxed.owl endometrial stroma tumor|tumor of endometrial stroma|neoplasm of endometrial stroma|endometrial stromal tumor|endometrial stroma neoplasm|endometrial stromal tumor (morphologic abnormality)|endometrial stromal neoplasm SCTID:446887007|MESH:D036821|EFO:1000920|UMLS:C0334695|DOID:5166|ICD9:239.5 owl:Class MONDO:0021251 biolink:NamedThing endometrium neoplasm A neoplasm (disease) that involves the endometrium. tmpaxzxjjyw_mondo_relaxed.owl endometrial tumor|tumor of endometrium|tumor of the endometrium|endometrial neoplasm|neoplasm of the endometrium|endometrium neoplasm (disease)|endometrium tumor|neoplasm of endometrium SCTID:123844007|ICD9:239.5|NCIT:C3012|MESH:D016889 owl:Class MONDO:0011620 biolink:NamedThing metaphyseal dysplasia, Braun-Tinschert type Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. tmpaxzxjjyw_mondo_relaxed.owl metaphyseal dysplasia, Braun-Tinschert type UMLS:C1853825|MESH:C565271|ICD10:Q78.5|SCTID:717221005|Orphanet:85188|OMIM:605946 owl:Class MONDO:0017137 biolink:NamedThing onchocerciasis Onchocerciasis is a form of filariasis, caused by the parasitic worm Onchocerca volvulus, transmitted by the black fly. The infection can either be asymptomatic or manifest as an ocular disease (river blindness) with itchy eyes, erythema, photophobia, onchodermatitis or onchocercal skin disease (classified into acute papular, chronic papular, lichenified, atrophic, and depigmentated) and onchocercomas (over bony prominences). Other classic clinical manifestations are ichthyosis-like lesions (''lizard skin'') and ''hanging groin'', which may be associated with lymphadenopathy. tmpaxzxjjyw_mondo_relaxed.owl onchocercosis|Onchocerca volvulus infection|River blindness|infection by Onchocerca volvulus|onchocerciasis|volvulosis|infection caused by Onchocerca volvulus|Robles' disease UMLS:C0029002|MedDRA:10030314|NCIT:C34861|MESH:D015827|GARD:0007252|EFO:0007402|MedDRA:10039202|UMLS:C0029001|Orphanet:2737|SCTID:38539003|DOID:11678|MESH:D009855|ICD10:B73|ICD9:125.3 https://rarediseases.info.nih.gov/diseases/7252/onchocerciasis owl:Class MONDO:0016075 biolink:NamedThing filariasis A parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. The disorder is a major public health problem in many tropical and subtropical countries. Six subtypes have been described in the literature: lymphatic filariasis, onchocerciasis, loiasis, mansonelliasis, dirofilariasis and dracunculiasis caused by Wuchereria bancrofti and filarioidea of the genus Brugia; Onchocerca volvulus; Loa loa; Mansonella; Dirofilaria; and Dracunculus medinensis, respectively. Tropical eosinophilia is considered a frequent manifestation. tmpaxzxjjyw_mondo_relaxed.owl disease due to superfamily Filarioidea ICD10:B74.8|ICD10:B74.2|ICD10:B74.0|MedDRA:10016674|UMLS:C0016085|ICD10:B74.1|DOID:1080|ICD10:B74|ICD10:B74.3|ICD10:B74.9|SCTID:105706003|MESH:D005368|ICD10:B74.4|Orphanet:2034|NCIT:C34611|ICD9:125.9 owl:Class MONDO:0001543 biolink:NamedThing lesion of sciatic nerve A peripheral nerve lesion that involves the sciatic nerve. tmpaxzxjjyw_mondo_relaxed.owl peripheral nerve lesion of sciatic nerve|sciatic nerve peripheral nerve lesion ICD10:G57.0|SCTID:52585001|ICD10:G57.00|DOID:12528|UMLS:C0154748|MESH:D020426|ICD9:355.0|SCTID:367137004 owl:Class MONDO:0001829 biolink:NamedThing lumbosacral plexus lesion A nerve plexus disease that involves the lumbosacral nerve plexus. tmpaxzxjjyw_mondo_relaxed.owl lumbosacral plexus lesions|nerve plexus disease of lumbosacral nerve plexus|lumbosacral nerve plexus nerve plexus disease UMLS:C0154735|ICD9:353.1|DOID:13913|SCTID:4062006 owl:Class OBO:CHR_9606-chr9p13 biolink:NamedThing 9p13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 39000000 33200000 hg38 owl:Class MONDO:0020806 biolink:NamedThing sinoatrial block A heart block that is initiated in the sinoatrial node. tmpaxzxjjyw_mondo_relaxed.owl SCTID:65778007 owl:Class MONDO:0000992 biolink:NamedThing heart conduction disease A disease that has its basis in the disruption of the heart's electrical conduction system. tmpaxzxjjyw_mondo_relaxed.owl conduction disease of heart|disorder of cardiac conduction|disease of cardiac conduction|heart rhythm disease|cardiac conduction disorder|cardiac conduction disease DOID:10273|SCTID:44808001|ICD9:426.6 owl:Class MONDO:0019791 biolink:NamedThing recessive mitochondrial ataxia syndrome tmpaxzxjjyw_mondo_relaxed.owl MIRAS ICD10:G11.8|EFO:0008816|Orphanet:94125|UMLS:CN206743 owl:Class MONDO:0020044 biolink:NamedThing autosomal recessive metabolic cerebellar ataxia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98096|UMLS:CN229258 owl:Class MONDO:0004062 biolink:NamedThing intermediate cell type uveal melanoma Uveal melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. tmpaxzxjjyw_mondo_relaxed.owl Intermediate cell type intraocular melanoma|mixed cell type uveal melanoma|Intermediate cell type uveal melanoma|intraocular mixed cell type melanoma NCIT:C7989|DOID:6992|UMLS:C0279693 owl:Class MONDO:0004746 biolink:NamedThing myopathy of extraocular muscle A myopathy that involves the extra-ocular muscle. tmpaxzxjjyw_mondo_relaxed.owl extra-ocular muscle myopathy|myopathy of extraocular muscles|myopathy of extra-ocular muscle SCTID:57130002|UMLS:C0155286|DOID:929|ICD10:H05.82|ICD9:376.82 owl:Class MONDO:0024458 biolink:NamedThing disorder of visual system A disease that involves the visual system. tmpaxzxjjyw_mondo_relaxed.owl disease of visual system|visual system disorder|disease or disorder of visual system|visual system disease|visual system disease or disorder|disorder of visual system SCTID:128127008 owl:Class MONDO:0012333 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 53 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in COL11A2|autosomal recessive nonsyndromic deafness 53|autosomal recessive deafness 53|DFNB53|deafness, autosomal recessive 53|COL11A2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 53|autosomal recessive nonsyndromic deafness type 53 ICD10:H90.3|DOID:0110509|OMIM:609706|MESH:C566453|UMLS:C1864746 owl:Class MONDO:0010555 biolink:NamedThing X-linked chondrodysplasia punctata 1 Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones. tmpaxzxjjyw_mondo_relaxed.owl arylsulfatase E deficiency|chondrodysplasia punctata 1, X-linked recessive|arse X-linked chondrodysplasia punctata|chondrodysplasia punctata brachytelephalangic|Cpxr|X-linked chondrodysplasia punctata caused by mutation in arse|X-linked chondrodysplasia punctata caused by mutation in ARSE|chondrodysplasia punctata 1 X-linked recessive|chondrodysplasia punctata, brachytelephalangic|brachytelephalangic chondrodysplasia punctata|X-linked chondrodysplasia punctata 1|CDPX1|ARSE X-linked chondrodysplasia punctata|CPXR|chondrodysplasia punctata, Brachytelephalangic OMIM:302950|GARD:0001296|OMIM:602497|ICD10:Q77.3|UMLS:C3669395|UMLS:C1844853|Orphanet:79345 https://rarediseases.info.nih.gov/diseases/1296/chondrodysplasia-punctata-1-x-linked-recessive owl:Class MONDO:0010556 biolink:NamedThing X-linked chondrodysplasia punctata X-linked form of chondrodysplasia punctata. tmpaxzxjjyw_mondo_relaxed.owl chondrodysplasia punctata, X-linked|X-linked dominant chondrodysplasia punctata|chondrodysplasia punctata, X-linked dominant|CPXD|chondrodystrophia calcificans congenita OMIM:302950|DOID:0060292|ICD10:Q77.3|OMIM:302960|UMLS:C0263627 owl:Class UBERON:0009097 biolink:NamedThing gravid organism tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007023 biolink:NamedThing adult organism A multicellular organism that existence_ends_with a post-juvenile adult stage and existence_starts_with a post-juvenile adult stage. tmpaxzxjjyw_mondo_relaxed.owl adults owl:Class HGNC:12298 biolink:NamedThing TRH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024524 biolink:NamedThing dyschromatosis universalis hereditaria 1 tmpaxzxjjyw_mondo_relaxed.owl dyschromatosis universalis hereditaria 1|DUH1 OMIM:127500|MESH:C567273|UMLS:C2675711|Orphanet:241 owl:Class MONDO:0014078 biolink:NamedThing platelet-type bleeding disorder 15 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene. tmpaxzxjjyw_mondo_relaxed.owl bleeding disorder, platelet-type, 15|inherited bleeding disorder, platelet-type caused by mutation in ACTN1|platelet-type bleeding disorder 15|ACTN1 inherited bleeding disorder, platelet-type|autosomal dominant macrothrombocytopenia ACTN1-related|BDPLT15|macrothrombocytopenia, autosomal dominant, ACTN1-related OMIM:615193|Orphanet:140957|UMLS:C3554663|DOID:0111053 owl:Class MONDO:0015372 biolink:NamedThing autosomal dominant macrothrombocytopenia This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets. tmpaxzxjjyw_mondo_relaxed.owl OMIM:613112|OMIM:615193|SCTID:720521008|UMLS:C4304021|Orphanet:140957|UMLS:CN199474|OMIM:187800|ICD10:D69.4 owl:Class MONDO:0012389 biolink:NamedThing myopia 12, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl myopia 12, autosomal dominant|MYP12 MESH:C566489|UMLS:C1864940|OMIM:609995 owl:Class MONDO:0001384 biolink:NamedThing myopia The condition in which the individual does not see far distances clearly. tmpaxzxjjyw_mondo_relaxed.owl myopia (disease)|near vision|short-sightedness|near-sightedness|myopia myopia (disease) ICD10:H52.1|OMIMPS:160700|DOID:11830|HP:0000545|NCIT:C102533|SCTID:57190000|ICD9:367.1|EFO:0003927|UMLS:C0027092|MESH:D009216 owl:Class MONDO:0011132 biolink:NamedThing T-cell immunodeficiency, congenital alopecia, and nail dystrophy A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. tmpaxzxjjyw_mondo_relaxed.owl severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome|alymphoid cystic thymic dysgenesis|T-cell immunodeficiency, congenital alopecia and nail dystrophy|FOXN1 deficiency|congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency|Pignata Guarino syndrome|winged helix deficiency|T-cell immunodeficiency, congenital alopecia, and nail dystrophy|alopecia immunodeficiency SCTID:720345008|ICD10:D82.8|DOID:0060769|MESH:C536781|Orphanet:169095|GARD:0004358|OMIM:601705|UMLS:C1866426 https://rarediseases.info.nih.gov/diseases/4358/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy owl:Class MONDO:0015974 biolink:NamedThing severe combined immunodeficiency Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells. tmpaxzxjjyw_mondo_relaxed.owl SCID|severe combined immunodeficiency disease|severe combined immunodeficiency|combined T and B cell inborn immunodeficiency|severe combined immunodeficiency (disease) severe combined immunodeficiency (disease) GARD:0007628|MedDRA:10069566|DOID:627|NCIT:C3472|ICD10:D81.0|HP:0004430|SCTID:31323000|ICD10:D81.3|ICD10:D81.1|UMLS:C0085110|Orphanet:183660|ICD10:D81.9|MESH:D016511|ICD10:D81.2 owl:Class MONDO:0030070 biolink:NamedThing heterotaxy, visceral, 9, autosomal, with male infertility tmpaxzxjjyw_mondo_relaxed.owl HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY|HTX9|heterotaxy, visceral, 9, autosomal, with male infertility OMIM:618948 owl:Class MONDO:0018677 biolink:NamedThing visceral heterotaxy A rare, genetic disorder in which symptoms are generally secondary to the abnormal location of the organs within the thoracic, abdominal, or peritoneal cavities. Anatomic and functional problems can include cardiac defects, intestinal malrotation leading to volvulus, biliary atresia, and various defects of the central nervous system, urinary tract, and skeleton. tmpaxzxjjyw_mondo_relaxed.owl heterotaxia|heterotaxia syndrome|lateralization defect|visceral heterotaxy|situs ambiguus|heterotaxy, visceral|heterotaxy syndrome Orphanet:450|OMIM:605376|OMIM:614779|OMIM:306955|UMLS:C3178805|OMIM:606325|MedDRA:10067265|OMIM:270100|OMIM:617205|OMIM:601086|OMIM:616749|NCIT:C117273|OMIMPS:306955|EFO:0009081|DOID:0050545|OMIM:613751|ICD10:Q89.3 owl:Class HGNC:6485 biolink:NamedThing LAMA5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024877 biolink:NamedThing clitoris neoplasm A neoplasm involving a clitoris. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of clitoris|clitoral neoplasm|clitoris tumor|tumor of clitoris UMLS:C1263793|ICD9:239.5|SCTID:126925009 owl:Class MONDO:0021049 biolink:NamedThing vulvar neoplasm A benign or malignant neoplasm that affects the vulva. Representative examples include Bartholin gland adenoma, vulvar nodular hidradenoma, vulvar carcinoma, and vulvar melanoma. tmpaxzxjjyw_mondo_relaxed.owl vulval neoplasm|vulva tumor|tumor of the vulva|neoplasm of the vulva|vulva neoplasm|neoplasm of mammalian vulva|tumor of mammalian vulva|neoplasm of vulva|mammalian vulva neoplasm|vulvar neoplasm|vulvar tumor|tumor of vulva|mammalian vulva tumor|mammalian vulva neoplasm (disease) ICD9:239.5|SCTID:126922007|NCIT:C3443 owl:Class MONDO:0017152 biolink:NamedThing pulmonary arterial hypertension associated with congenital heart disease Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a form of pulmonary arterial hypertension (PAH), characterized by elevated pulmonary arterial resistance leading to right heart failure occurring as a common complication of congenital heart malformations with left to right cardiac shunts. Eisenmenger syndrome is the most advanced form of PAH-CHD and is defined as the complete or partial reversal of an initial left-to-right shunt to a right-to-left shunt, causing cyanosis and limited exercise capacity. PAH-CHD also includes mild to moderate systemic-to-pulmonary shunts with no cyanosis at rest, patients with small defects, and those with residual PAH following corrective cardiac surgery. tmpaxzxjjyw_mondo_relaxed.owl PAH associated with congenital heart disease 2022-03-01 ICD9:416.8|UMLS:C3697119|SCTID:697905000|Orphanet:275803|EFO:0009054|UMLS:CN243982|ICD10:I27.2 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class MONDO:0017150 biolink:NamedThing pulmonary arterial hypertension associated with another disease Pulmonary arterial hypertension associated with another disease is a group of conditions that lead to PAH; connective tissue diseases (lupus erythematosus, systemic sclerosis and mixed connective tissues disease), congenital heart disease (Eisenmenger syndrome), HIV infection, portal hypertension, schistosomiasis and chronic hemolytic anemia, which is characterized by elevated pulmonary arterial resistance leading to right heart failure that is progressive and potentially fatal. tmpaxzxjjyw_mondo_relaxed.owl secondary PAH|PAH associated with another disease 2022-03-01 Orphanet:275791|UMLS:CN202577|EFO:0009193|ICD10:I27.2 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class UBERON:0001312 biolink:NamedThing superior vesical artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009027 biolink:NamedThing vesical artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005068 biolink:NamedThing myocardial infarction Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. tmpaxzxjjyw_mondo_relaxed.owl myocardial infarction|MI|MI, myocardial infarction|myocardial infarct|myocardial infarction, (MI)|infarction (MI), myocardial|myocardial infarction (disease)|heart attack myocardial infarction (disease) SCTID:22298006|NCIT:C27996|ICD10:I21|EFO:0000612|DOID:5844|OMIM:608446|ICD10:I22|MESH:D009203|UMLS:C0027051|HP:0001658|OMIM:608557 owl:Class MONDO:0024643 biolink:NamedThing myocardial disorder A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of myocardium|myocardium disease or disorder|myocardial disease|disorder of myocardium|myocardial disorder|disease of myocardium|myocardium disease|disorder of heart muscle SCTID:57809008|NCIT:C35544 owl:Class MONDO:0017438 biolink:NamedThing amelia of lower limb A non-syndromic amelia that involves the hindlimb. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic amelia of hindlimb|hindlimb non-syndromic amelia HP:0009818|Orphanet:294969|ICD10:Q72.0|SCTID:265798000 owl:Class MONDO:0017419 biolink:NamedThing non-syndromic amelia A congenital malformation characterized by the complete absence of all limbs. tmpaxzxjjyw_mondo_relaxed.owl amelia|isolated amelia|nonsyndromic amelia MedDRA:10001926|HP:0009827|Orphanet:294925|ICD10:Q73.0|NCIT:C34370|SCTID:62588002 owl:Class NCBITaxon:1716 biolink:NamedThing Corynebacterium tmpaxzxjjyw_mondo_relaxed.owl Turicella PMID:8186090|PMID:29760685|PMID:30186281|PMID:19661509|GC_ID:11|PMID:10425754|PMID:7547293|PMID:7547284|PMID:7547291 NCBITaxon:144193 ncbi_taxonomy owl:Class NCBITaxon:1653 biolink:NamedThing Corynebacteriaceae tmpaxzxjjyw_mondo_relaxed.owl Coryneform bacteria GC_ID:11|PMID:19244447|PMID:30186281|PMID:27864136 ncbi_taxonomy owl:Class MONDO:0010908 biolink:NamedThing loose anagen syndrome Loose anagen syndrome is a rare benign hair disorder affecting predominantly blond females in childhood and characterized by the presence of hair that can be easily and painlessly pulled out. Most of the hair is in the anagen phase and lacks an external epithelial sheath. Hair grows back quickly and the condition improves spontaneously with aging. Loose anagen hair can be associated with other anomalies, such as coloboma. tmpaxzxjjyw_mondo_relaxed.owl loose anagen hair syndrome UMLS:C0406468|Orphanet:168|ICD10:L65.1|GARD:0003287|ICD9:704.8|MESH:D058247|SCTID:238735005|OMIM:600628|DOID:0111702 owl:Class MONDO:0004907 biolink:NamedThing alopecia Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions. tmpaxzxjjyw_mondo_relaxed.owl hair loss|alopecia areata|loss Of hair|alopecia MESH:D000505|UMLS:C0002170|OMIM:300042|ICD10:L65.9|ICD9:704.0|NCIT:C50575|SCTID:56317004|DOID:987|ICD9:704.00|ICD9:704.09|Orphanet:79364 owl:Class MONDO:0013713 biolink:NamedThing dengue virus, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl dengue virus, susceptibility to|Dengue hemorrhagic fever, susceptibility to|Dengue fever, protection against|Dengue shock syndrome, susceptibility to|Dengue fever, susceptibility to|susceptibility to dengue virus OMIM:614371 owl:Class MONDO:0015979 biolink:NamedThing hereditary predisposition to infections tmpaxzxjjyw_mondo_relaxed.owl genetic susceptibility to infections due to particular pathogens Orphanet:183710|ICD10:D84.8 Editor note: todo logical definition owl:Class GO:0045187 biolink:NamedThing regulation of circadian sleep/wake cycle, sleep Any process that modulates the frequency, rate or extent of sleep; a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. tmpaxzxjjyw_mondo_relaxed.owl regulation of sleep owl:Class HGNC:20492 biolink:NamedThing COA8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002144 biolink:NamedThing capillary endothelial cell An endothelial cell found in capillaries. tmpaxzxjjyw_mondo_relaxed.owl BTO:0004956|CALOHA:TS-0112|FMA:67756 tmeehan 2010-08-24T10:15:00Z cell owl:Class CL:0000071 biolink:NamedThing blood vessel endothelial cell An endothelial cell that lines the vasculature. tmpaxzxjjyw_mondo_relaxed.owl cuboidal endothelial cell of vascular tree cell owl:Class MONDO:0000462 biolink:NamedThing eye adnexa disorder A disease involving the ocular adnexa. tmpaxzxjjyw_mondo_relaxed.owl disease of ocular adnexa|disorder of ocular adnexa|ocular adnexa disease or disorder|ocular adnexa disease|disease or disorder of ocular adnexa ICD10:H00.H06|SCTID:118941004|DOID:0050815|UMLS:C1290855 owl:Class MONDO:0001126 biolink:NamedThing gastric ulcer An ulcerated lesion in the mucosal surface of the stomach. It may progress to involve the deeper layers of the gastric wall. tmpaxzxjjyw_mondo_relaxed.owl peptic ulcer disease of stomach|acute gastric ulcer with perforation|chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction|acute gastric ulcer with hemorrhage and perforation, without mention of obstruction|chronic gastric ulcer without hemorrhage and without perforation|acute gastric ulcer with hemorrhage and perforation, with obstruction|acute gastric ulcer with perforation and obstruction|stomach peptic ulcer disease|acute gastric ulcer with hemorrhage and with perforation but without obstruction|chronic gastric ulcer without hemorrhage and without perforation but with obstruction|acute gastric ulcer without hemorrhage and without perforation|gastric ulcer (disease)|gastric ulcer|acute gastric ulcer with perforation, with obstruction|acute gastric ulcer with haemorrhage and perforation|acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastric ulcer with hemorrhage and perforation|acute gastric ulcer with hemorrhage, with obstruction|acute gastric ulcer without hemorrhage, without perforation and without obstruction|bleeding acute gastric ulcer|acute gastric ulcer with hemorrhage, with perforation and with obstruction|acute gastric ulcer with hemorrhage and obstruction gastric ulcer (disease) NCIT:C3388|UMLS:C0038358|SCTID:397825006|DOID:10808|HP:0002592|MESH:D013276|ICD10:K25|ICD9:531 owl:Class MONDO:0004247 biolink:NamedThing peptic ulcer disease A mucosal erosion that occurs in the esophagus, stomach or duodenum. Symptoms can include abdominal pain, nausea and vomiting, and bleeding. tmpaxzxjjyw_mondo_relaxed.owl acute peptic ulcer without hemorrhage and without perforation|acute peptic ulcer with hemorrhage|peptic ulcer|acute peptic ulcer with hemorrhage and perforation UMLS:C0030920|ICD9:533|NCIT:C3318|MESH:D010437|SCTID:13200003|DOID:750|ICD10:K27 owl:Class UBERON:0016497 biolink:NamedThing epicondyle of humerus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009978 biolink:NamedThing epicondyle tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060761 biolink:NamedThing negative regulation of response to cytokine stimulus Any process that decreases the rate, frequency, or extent of a response to cytokine stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060759 biolink:NamedThing regulation of response to cytokine stimulus Any process that modulates the rate, frequency, or extent of a response to cytokine stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016121 biolink:NamedThing congenital myotonia tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027127|ICD10:G71.1|Orphanet:206973 owl:Class MONDO:0016120 biolink:NamedThing myotonic syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:G71.1|MESH:D020967|Orphanet:206970|MedDRA:10028658 owl:Class GO:0031503 biolink:NamedThing protein-containing complex localization A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. tmpaxzxjjyw_mondo_relaxed.owl protein complex localisation|protein complex localization|establishment and maintenance of protein complex localization owl:Class GO:0051179 biolink:NamedThing localization Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation. tmpaxzxjjyw_mondo_relaxed.owl single-organism localization|establishment and maintenance of substance location|establishment and maintenance of localization|localisation|establishment and maintenance of substrate location|single organism localization|establishment and maintenance of position|establishment and maintenance of cellular component location owl:Class UBERON:0034980 biolink:NamedThing jugular bulb tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013522 biolink:NamedThing subdivision of tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034947 biolink:NamedThing gas in respiratory system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034873 biolink:NamedThing bodily gas tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017149 biolink:NamedThing drug- or toxin-induced pulmonary arterial hypertension Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal. tmpaxzxjjyw_mondo_relaxed.owl drug- or toxin-induced PAH Orphanet:275786|EFO:0009192|UMLS:C0340544|ICD10:I27.2 owl:Class MONDO:0015924 biolink:NamedThing pulmonary arterial hypertension Pulmonary arterial hypertension (PAH) is a group of diseases characterized by elevated pulmonary arterial resistance leading to right heart failure. PAH is progressive and potentially fatal. PAH may be idiopathic and/ or familial, or induced by drug or toxin (drug-or toxin-induced PAH) or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension (PAH associated with other disease). tmpaxzxjjyw_mondo_relaxed.owl PPH|PAH|pulmonary arterial hypertension|idiopathic pulmonary hypertension GARD:0007501|UMLS:CN200519|Orphanet:182090|UMLS:C2973725|SCTID:11399002|MedDRA:10064911 owl:Class MONDO:0011975 biolink:NamedThing paternal uniparental disomy of chromosome 14 tmpaxzxjjyw_mondo_relaxed.owl uniparental disomy, paternal, chromosome 14|KAGAMI-Ogata syndrome|paternal uniparental disomy of chromosome type 14|paternal uniparental disomy of chromosome 14|UPD(14)pat|paternal uniparental disomy 14 MESH:C536471|UMLS:C1842466|OMIM:608149|Orphanet:96334|ICD10:Q99.8|GARD:0005409|Orphanet:254519 https://rarediseases.info.nih.gov/diseases/5409/uniparental-disomy-paternal-chromosome-14 owl:Class MONDO:0700086 biolink:NamedThing uniparental disomy A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85215 http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0001262 biolink:NamedThing wall of intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000328 biolink:NamedThing gut wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018050 biolink:NamedThing tibial aplasia-ectrodactyly syndrome Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl split hand/foot malformation with long bone deficiency|SHFM associated with aplasia of long bones|SHFLD syndrome|ectrodactyly with aplasia of long bones|aplasia of tibia with ectrodactyly|split-hand/foot malformation with long bone deficiency|aplasia of tibia with split-hand/split-foot deformity|SHFLD|tibial hemimelia-ectrodactyly syndrome|split-hand/foot malformation associated with aplasia of long bones|tibial aplasia with split-hand/split-foot deformity|tibial hemimelia with split hand/foot malformation|TH-SHFM OMIM:610685|Orphanet:3329|OMIM:612576|ICD10:Q73.8|OMIM:119100|GARD:0001369 https://rarediseases.info.nih.gov/diseases/1369/cleft-hand-absent-tibia owl:Class MONDO:0018454 biolink:NamedThing dysostosis of genetic origin An instance of dysostosis that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic dysostosis Orphanet:404568 owl:Class MONDO:0007614 biolink:NamedThing congenital fibrosis of extraocular muscles tmpaxzxjjyw_mondo_relaxed.owl fibrosis of extraocular muscles, congenital, 1|fibrosis of extraocular muscles, congenital, type 1|fibrosis of extraocular muscles, congenital, 3B|FEOM|Tukel syndrome|ophthalmoplegia, congenital|Feom1 locus|congenital fibrosis of the extraocular muscles|blepharoptosis with absent eye movements|CFEOM1|fibrosis of extraocular muscles, congenital GARD:0012590|OMIM:609428|SCTID:400946004|OMIM:609384|ICD9:728.2|UMLS:CN043677|DOID:0080143|OMIM:600638|OMIM:616219|OMIM:602078|ICD10:H49.8|OMIMPS:135700|UMLS:C1302995|OMIM:135700|OMIM:609612|Orphanet:45358 owl:Class MONDO:0020259 biolink:NamedThing myopathy with eye involvement tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98689 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: myopathy MONDO_0005336 owl:Class UBERON:0001170 biolink:NamedThing mesentery of small intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001206 biolink:NamedThing serosa of small intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000937 biolink:NamedThing syphilitic encephalitis An encephalitis caused by infection with Treponema. tmpaxzxjjyw_mondo_relaxed.owl Treponema caused encephalitis|Treponema encephalitis DOID:10081|ICD9:094.81|UMLS:C0153168|SCTID:26135000 owl:Class MONDO:0019956 biolink:NamedThing encephalitis An acute inflammatory process affecting the brain parenchyma. Causes include viral infections and less frequently bacterial infections, toxins, and immune-mediated processes. tmpaxzxjjyw_mondo_relaxed.owl brain inflammation ICD10:A85|DOID:9588|ICD9:323.9|MESH:D004660|UMLS:C0014038|SCTID:45170000|ICD9:323.8|NCIT:C26760|ICD9:323.0|Orphanet:97275|MedDRA:10014581 Editor note: consider merging with brain inflammation owl:Class UBERON:0012292 biolink:NamedThing embryonic cloacal fold tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000481 biolink:NamedThing multi-tissue structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015895 biolink:NamedThing syndrome with hypoparathyroidism tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:181402|UMLS:CN200505 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0016165 biolink:NamedThing genetic hypoparathyroidism Genetic hypoparathyroidism. tmpaxzxjjyw_mondo_relaxed.owl genetic hypoparathyroidism Orphanet:208593 owl:Class MONDO:0010026 biolink:NamedThing SHORT syndrome SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease. tmpaxzxjjyw_mondo_relaxed.owl lipodystrophy, partial, with Rieger anomaly and short stature|short syndrome|lipodystrophy-Rieger anomaly-diabetes syndrome|SHORT syndrome|short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay|short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay|Rieger anomaly-partial lipodystrophy syndrome|partial lipodystrophy with Rieger anomaly and short stature|Aarskog-Ose-Pande syndrome UMLS:C0878684|MESH:C537327|OMIM:269880|GARD:0007633|Orphanet:3163|DOID:0111454|ICD10:Q87.1 owl:Class MONDO:0002708 biolink:NamedThing retinitis Inflammation of the retina. tmpaxzxjjyw_mondo_relaxed.owl retina inflammation|inflammation of retina DOID:3612|SCTID:399463004|UMLS:C0035333|MESH:D012173|NCIT:C115993|ICD10:H30.9 owl:Class MONDO:0005283 biolink:NamedThing retinal disorder Any disease or disorder of the retina. tmpaxzxjjyw_mondo_relaxed.owl retina eye disease|eye disease of retina|retinopathy HGNC:8002|NCIT:C62601|DOID:5679|MESH:D012164|EFO:0003839|UMLS:C0035309|ICD9:362.9|ICD9:362.89|SCTID:29555009|ICD10:H35.9 owl:Class MONDO:0017003 biolink:NamedThing partial deletion of chromosome X tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome X|partial deletion of chromosome type X ICD10:Q99.8|Orphanet:263726 owl:Class MONDO:0020062 biolink:NamedThing chromosome X structural anomaly tmpaxzxjjyw_mondo_relaxed.owl 2022-04-01 ICD10:Q99.8|Orphanet:98159 Reason: grouping class. Term to consider: none owl:Class MONDO:0024506 biolink:NamedThing Adams-Oliver syndrome 1 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene. tmpaxzxjjyw_mondo_relaxed.owl AOS|AOS1|Adams-Oliver syndrome caused by mutation in ARHGAP31|absence defect of limbs, scalp, and skull|aplasia cutis congenita, congenital heart defect, and frontonasal cysts|congenital scalp defects with distal limb reduction anomalies|ARHGAP31 Adams-Oliver syndrome|Adams-Oliver syndrome 1|aplasia cutis congenita with terminal transverse limb defects UMLS:C0265268|OMIM:100300|UMLS:CN028867|Orphanet:974 owl:Class MONDO:0007034 biolink:NamedThing Adams-Oliver syndrome Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects. tmpaxzxjjyw_mondo_relaxed.owl Adams Oliver syndrome|congenital scalp defects with distal limb anomalies|AOS|limb, scalp and skull defects|limb scalp and skull defects|congenital scalp defects with distal limb reduction anomalies ICD9:759.89|OMIMPS:100300|OMIM:614219|Orphanet:974|OMIM:615297|SCTID:34748004|MESH:C538225|OMIM:616589|ICD10:Q87.2|OMIM:614814|GARD:0005739|OMIM:616028|DOID:0060227|OMIM:100300|UMLS:C0265268 https://rarediseases.info.nih.gov/diseases/5739/adams-oliver-syndrome owl:Class GO:0030594 biolink:NamedThing neurotransmitter receptor activity Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0038023 biolink:NamedThing signaling receptor activity Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. tmpaxzxjjyw_mondo_relaxed.owl receptor activity|receptor activity involved in signal transduction|signalling receptor activity owl:Class GO:0051967 biolink:NamedThing negative regulation of synaptic transmission, glutamatergic Any process that stops, prevents, or reduces the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. tmpaxzxjjyw_mondo_relaxed.owl downregulation of synaptic transmission, glutamatergic|down regulation of synaptic transmission, glutamatergic|inhibition of synaptic transmission, glutamatergic|down-regulation of synaptic transmission, glutamatergic owl:Class CL:0002491 biolink:NamedThing auditory epithelial cell A specialized cell involved in auditory sensory perception. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-12-06T03:18:43Z cell owl:Class CL:0000066 biolink:NamedThing epithelial cell A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. tmpaxzxjjyw_mondo_relaxed.owl epitheliocyte FMA:66768|BTO:0000414|FBbt:00000124|CARO:0000077|WBbt:0003672|CALOHA:TS-2026 cell owl:Class MONDO:0008893 biolink:NamedThing C syndrome C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl trigonocephaly syndrome|OTCS|trigonocephaly C syndrome|C syndrome|Opitz C trigonocephaly|Opitz trigonocephaly syndrome|Opitz trigonocephaly C syndrome ICD10:Q87.8|DOID:0111581|GARD:0005978|Orphanet:1308|OMIM:211750|MESH:C537418|UMLS:C0796095|SCTID:715409005 https://rarediseases.info.nih.gov/diseases/5978/c-syndrome owl:Class MONDO:0013529 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 3 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene. tmpaxzxjjyw_mondo_relaxed.owl CVPT3|CPVT3|TECRL catecholaminergic polymorphic ventricular tachycardia|ventricular tachycardia, catecholaminergic polymorphic, 3|catecholaminergic polymorphic ventricular tachycardia 3|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL|catecholaminergic polymorphic ventricular tachycardia type 3 OMIM:614021|ICD10:I47.2|Orphanet:3286|UMLS:C3151463|DOID:0060677 owl:Class MONDO:0017990 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death. tmpaxzxjjyw_mondo_relaxed.owl familial polymorphic ventricular tachycardia|multifocal ventricular premature beats|CPVT|double tachycardia induced by catecholamines|catecholamine-induced polymorphic ventricular tachycardia|stress-induced polymorphic ventricular tachycardia|ventricular tachycardia, catecholaminergic polymorphic|bidirectional tachycardia induced by catecholamine|catecholaminergic polymorphic ventricular tachycardia|malignant paroxysmal ventricular tachycardia|syncopal paroxysmal tachycardia|polymorphic catecholergic ventricular tachycardia SCTID:419671004|OMIM:611938|OMIM:614021|OMIMPS:604772|OMIM:604772|OMIM:615441|OMIM:614916|ICD10:I47.2|GARD:0004421|DOID:0060674|MESH:C536334|UMLS:C1631597|Orphanet:3286 owl:Class MONDO:0000879 biolink:NamedThing cutaneous candidiasis Candidiasis of the skin manifested as eczema-like lesions of the interdigital spaces, perleche, or chronic paronychia. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl zone of skin candidiasis UMLS:C0006846|DOID:0080161|MESH:D002179 owl:Class MONDO:0002026 biolink:NamedThing candidiasis Infection with the organism Candida. tmpaxzxjjyw_mondo_relaxed.owl disseminated candidiasis|systemic candidiasis|infections, Candida |Candida infection|Candidosis|thrush|Candida infection NCIT:C26711|ICD9:112|ICD10:B37.9|ICD9:112.89|ICD10:B37|SCTID:78048006|MESH:D002177|UMLS:C0006840|ICD9:112.9|DOID:1508 owl:Class MONDO:0044986 biolink:NamedThing lymphoid system disorder A disease or disorder that involves the lymphoid system. tmpaxzxjjyw_mondo_relaxed.owl lymphoid system disease or disorder|disease of lymphoid system|lymphoid system disease|disease or disorder of lymphoid system|disorder of lymphoid system SCTID:111590001 owl:Class HGNC:18658 biolink:NamedThing NUP205 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1001591 biolink:NamedThing oviduct glandular cell Glandular cell of oviduct epithelium. Example: peg cells, ciliated cells. tmpaxzxjjyw_mondo_relaxed.owl uterine tube glandular cell|fallopian tube glandular cell|fallopian tube glandular cells CALOHA:TS-1277 owl:Class CL:0000150 biolink:NamedThing glandular epithelial cell A specialized epithelial cell that is capable of synthesizing and secreting certain biomolecules. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-2085|FMA:86494 cell owl:Class MONDO:0022556 biolink:NamedThing oculo-cerebral dysplasia tmpaxzxjjyw_mondo_relaxed.owl Behrens-Baumann-Vogel syndrome|microphthalmia-optic nerve dysplasia|unilateral aplasia of the optic nerve with cryptophthalmus and contralateral microphthalmus|Behrens Baumann dust syndrome GARD:0004021 Editor note: TODO update from ORDO https://rarediseases.info.nih.gov/diseases/4021/oculo-cerebral-dysplasia owl:Class NCBITaxon:327045 biolink:NamedThing Orthoretrovirinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11632 biolink:NamedThing Retroviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004920 biolink:NamedThing hydrocele tmpaxzxjjyw_mondo_relaxed.owl ICD9:603.8|SCTID:55434001|ICD9:603.9|DOID:9912 owl:Class MONDO:0005833 biolink:NamedThing lymphatic system disorder A disease involving the lymphatic part of lymphoid system. tmpaxzxjjyw_mondo_relaxed.owl disease of lympoid system|lymphatic part of lymphoid system disease|lymphadenopathy|lymphatic disease|lymphangiopathy|lymphatic part of lymphoid system disease or disorder|disease or disorder of lymphatic part of lymphoid system|disorder of lymphatic system|glands, swollen|lymphatic disorder|disorder of lymphoid system|swollen glands|swollen gland|disease of lymphatic part of lymphoid system|disorder of lymph node and lymphatics|disorder of lymphatic part of lymphoid system|adenopathy|lympoid system disease EFO:0007352|NCIT:C50764|SCTID:362971004|MESH:D008206|UMLS:C0024228|DOID:75 Editor note: check alignment to anatomy, consider lymphoid system disease owl:Class UBERON:0005670 biolink:NamedThing greater omentum mesothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001136 biolink:NamedThing mesothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002750 biolink:NamedThing bladder colloid adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl bladder mucinous adenocarcinoma DOID:3710|NCIT:C39837|UMLS:C1511193 owl:Class MONDO:0002751 biolink:NamedThing bladder adenocarcinoma A carcinoma that arises from glandular epithelial cells of the urinary bladder tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of urinary bladder|adenocarcinoma of the bladder|blad|bladder adenocarcinoma|adenocarcinoma of bladder|urinary bladder adenocarcinoma|adenocarcinoma of the urinary bladder EFO:1000125|ONCOTREE:BLAD|UMLS:C0279682|SCTID:255110003|NCIT:C4032|DOID:3711 owl:Class HP:0030082 biolink:NamedThing Abnormal drinking behavior Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. tmpaxzxjjyw_mondo_relaxed.owl Abnormal drinking behavior|Abnormal drinking behaviour UMLS:C4022657 Note that this HPO term refers to an abnormal habit of drinking fluids but does not directly refer to an psychological disorder. human_phenotype owl:Class HP:0040202 biolink:NamedThing Abnormal consumption behavior tmpaxzxjjyw_mondo_relaxed.owl Abnormal consumption behaviour UMLS:C4073150 human_phenotype owl:Class HP:0009830 biolink:NamedThing Peripheral neuropathy Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. tmpaxzxjjyw_mondo_relaxed.owl Neuropathy|Peripheral neuritis|Peripheral nerve damage SNOMEDCT_US:42658009|SNOMEDCT_US:386033004|UMLS:C0031117|UMLS:C0442874|MSH:D010523|SNOMEDCT_US:302226006 Terms from this subhierarchy should be used to describe morphological abnormalities seen in peripheral neuropathy. Functional deficits should be coded separately. peter 2009-03-01T07:49:18Z HP:0003157|HP:0003407|HP:0007235|HP:0007355|HP:0007088 human_phenotype owl:Class HP:0012638 biolink:NamedThing Abnormal nervous system physiology A functional anomaly of the nervous system. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of nervous system physiology UMLS:C4022811 peter 2014-01-19T08:02:46Z human_phenotype owl:Class MONDO:0015382 biolink:NamedThing lower lip fistula A cysts and fistulae of the face and oral cavity that involves the lower lip. tmpaxzxjjyw_mondo_relaxed.owl cysts and fistulae of the face and oral cavity of lower lip|lower lip cysts and fistulae of the face and oral cavity Orphanet:141064|ICD10:Q38.0 owl:Class MONDO:0015476 biolink:NamedThing cysts and fistulae of the face and oral cavity tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q18.0|Orphanet:155835 owl:Class UBERON:0004983 biolink:NamedThing mucosa of vagina tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010842 biolink:NamedThing calcaneum cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005863 biolink:NamedThing cartilaginous condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006417 biolink:NamedThing regulation of translation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. tmpaxzxjjyw_mondo_relaxed.owl regulation of protein anabolism|regulation of protein biosynthesis|regulation of protein formation|regulation of protein synthesis owl:Class MONDO:0017912 biolink:NamedThing X-linked pure spastic paraplegia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:320332|ICD10:G11.4 owl:Class MONDO:0015149 biolink:NamedThing pure hereditary spastic paraplegia tmpaxzxjjyw_mondo_relaxed.owl uncomplicated familial spastic paraplegia|Pure familial spastic paraplegia|Pure SPG|uncomplicated HSP|uncomplicated hereditary spastic paraplegia|uncomplicated SPG|Pure HSP ICD10:G11.4|Orphanet:102012|SCTID:230260007|UMLS:C0393555 owl:Class UBERON:0007699 biolink:NamedThing tract of spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001018 biolink:NamedThing axon tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q22 biolink:NamedThing 8q22 (Human) tmpaxzxjjyw_mondo_relaxed.owl 105100000 92300000 hg38 owl:Class HGNC:3622 biolink:NamedThing FKTN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003169 biolink:NamedThing diencephalic astrocytomas A astrocytoma that involves the diencephalon. tmpaxzxjjyw_mondo_relaxed.owl astrocytoma (excluding glioblastoma) of diencephalon|astrocytoma of the diencephalon|diencephalon astrocytoma (excluding glioblastoma)|astrocytoma of diencephalon|diencephalic astrocytoma|diencephalon astrocytoma NCIT:C5128|UMLS:C1333284|DOID:4855 owl:Class MONDO:0032771 biolink:NamedThing paragangliomas 7 tmpaxzxjjyw_mondo_relaxed.owl PGL7|PARAGANGLIOMAS 7 OMIM:618475 owl:Class MONDO:0000448 biolink:NamedThing paraganglioma A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases. tmpaxzxjjyw_mondo_relaxed.owl paragangliomas|Paraganglionic neoplasm|neoplasm of paraganglion|tumor of paraganglion|paraganglion neoplasm|Paraganglionic tumor|paraganglion tumor|neoplasm of the paraganglion|paraganglioma|chemodectoma|tumor of the paraganglion OMIM:601650|DOID:0050773|NCIT:C3308|UMLS:C0030421|ICDO:8680/1|OMIM:614165|SCTID:127027008|OMIMPS:168000|OMIM:115310|EFO:1000453|OMIM:168000|MESH:D010235|ICD9:239.7|OMIM:605373|ONCOTREE:PGNG owl:Class MONDO:0100343 biolink:NamedThing antenatal Bartter syndrome A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome. tmpaxzxjjyw_mondo_relaxed.owl Bartter syndrome, furosemide type|Bartter syndrome, furosemide-amiloride type|hyperprostaglandin E syndrome Orphanet:93604 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0015231 biolink:NamedThing Bartter syndrome Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. tmpaxzxjjyw_mondo_relaxed.owl salt-losing tubular disorder, Henle's loop type|renal tubular normotensive hypokalemic alkalosis with hypercalciuria|Bartter's syndrome|salt-wasting tubulopathy, Henle's loop type|hypokalemic alkalosis with hypercalciuria|Potassium wasting|Bartter disease|aldosteronism with hyperplasia of the adrenal cortex|hypokalemic alkalosis NCIT:C34412|OMIM:300971|UMLS:C0004775|OMIM:613090|OMIM:241200|OMIM:601678|OMIMPS:601678|ICD10:E26.81|MESH:D001477|OMIM:607364|OMIM:601198|UMLS:C0085570|ICD9:255.13|SCTID:707742001|GARD:0005893|MedDRA:10050839|DOID:445|Orphanet:112|ICD10:E26.8|OMIM:602522 https://rarediseases.info.nih.gov/diseases/5893/bartter-syndrome owl:Class HGNC:12015 biolink:NamedThing TPO tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045598 biolink:NamedThing regulation of fat cell differentiation Any process that modulates the frequency, rate or extent of adipocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl regulation of adipocyte cell differentiation|regulation of adipocyte differentiation owl:Class MONDO:0021838 biolink:NamedThing Al Gazali Khidr Prem Chandran syndrome A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl cherubism, optic atrophy and short stature MESH:C535616|GARD:0000586|UMLS:C2930951 https://rarediseases.info.nih.gov/diseases/586/al-gazali-khidr-prem-chandran-syndrome owl:Class MONDO:0007315 biolink:NamedThing cherubism Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases. tmpaxzxjjyw_mondo_relaxed.owl familial multilocular cystic disease of the jaws|familial fibrous dysplasia of the jaws|Crbm|CRBM|cherubism UMLS:C0008029|Orphanet:184|MedDRA:10070535|ICD10:K10.8|SCTID:76098004|MESH:D002636|OMIM:118400|ICD9:526.89|GARD:0006036|NCIT:C84630|ICD10:M27.8|DOID:1856 https://rarediseases.info.nih.gov/diseases/6036/cherubism owl:Class CHEBI:38104 biolink:NamedThing oxacycle Any organic heterocyclic compound containing at least one ring oxygen atom. tmpaxzxjjyw_mondo_relaxed.owl organooxygen heterocyclic compounds|heterocyclic organooxygen compounds|oxacycles owl:Class CHEBI:24532 biolink:NamedThing organic heterocyclic compound A cyclic compound having as ring members atoms of carbon and at least of one other element. tmpaxzxjjyw_mondo_relaxed.owl organic heterocyclic compounds|organic heterocycle owl:Class MONDO:0019908 biolink:NamedThing ring chromosome 15 Ring chromosome 15 is a chromosome abnormality that affects growth, learning, and speech. People with ring chromosome 15 often have growth delays before and after birth, resulting in short stature; varying degrees of intellectual disability ; low muscle tone (hypotonia); craniofacial malformations; and limb abnormalities. Other symptoms might include congenital heart defects, kidney problems, congenital dislocation of the hips, and cafe-au-lait spots. Ring chromosome 15 is caused by an abnormal chromosome known as a ring chromosome 15 or r(15). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and the broken ends fuse together. The features of ring chromosome 15 appear to result from the loss (deletion) of genetic material from the long (q) arm of chromosome 15. Ring chromosome 15 is usually caused by spontaneous (de novo) errors very early in embryonic development. In rare cases, it is passed through families, either from a parent who also has a ring chromosome 15, or from a parent who has a balanced translocation. Treatment for ring chromosome 15 is focused on addressing the symptoms present in each individual and may require a team of medical specialists. tmpaxzxjjyw_mondo_relaxed.owl chromosome 15 ring|Ring chromosome type 15|Ring 15|R15|Ring chromosome 15 syndrome MESH:C538035|Orphanet:96177|UMLS:CN035931|GARD:0001328|ICD10:Q93.2|SCTID:763405000 https://rarediseases.info.nih.gov/diseases/1328/ring-chromosome-15 owl:Class MONDO:0700022 biolink:NamedThing chromosome 15 disorder Chromosomal disorder in which chromosome 15 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class GO:0061564 biolink:NamedThing axon development The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031175 biolink:NamedThing neuron projection development The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpaxzxjjyw_mondo_relaxed.owl neurite formation|neurite outgrowth|neurite biosynthesis|neurite development|neurite growth owl:Class MONDO:0017400 biolink:NamedThing hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome is a rare, potentially fatal, genetic, visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia, as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. tmpaxzxjjyw_mondo_relaxed.owl Mitchell-Riley syndrome|MTCHRS|hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome|diabetes, neonatal, with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia|hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome ICD10:Q45.8|OMIM:615710|Orphanet:293864|UMLS:C2748662 owl:Class MONDO:0015214 biolink:NamedThing syndromic visceral malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:108973|UMLS:CN226631 owl:Class MONDO:0018996 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive type 1|AOA2|ataxia-oculomotor apraxia type 2|autosomal recessive spinocerebellar ataxia-1|spinocerebellar ataxia with axonal neuropathy type 2|ataxia-ocular apraxia 2|spinocerebellar ataxia, autosomal recessive 1|ataxia with oculomotor apraxia type 2|SCAN 2|SCAR1|SCAN2|ataxia-oculomotor apraxia 2 DOID:0050755|MESH:C537308|OMIM:606002|ICD10:G60.2|Orphanet:64753|GARD:0012860|UMLS:CN205441|UMLS:C1853761|SCTID:725408001 See https://github.com/Orphanet/ORDO/issues/11 owl:Class MONDO:0020771 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy tmpaxzxjjyw_mondo_relaxed.owl SCAN OMIMPS:607250 owl:Class MONDO:0012925 biolink:NamedThing Diamond-Blackfan anemia 5 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL35A gene. tmpaxzxjjyw_mondo_relaxed.owl Diamond-Blackfan Anemia type 5|Diamond-Blackfan anemia caused by mutation in RPL35A|Diamond-Blackfan anemia 5|DBA5|RPL35A Diamond-Blackfan anemia Orphanet:124|OMIM:612528|MESH:C567280|UMLS:C2675859 owl:Class MONDO:0015253 biolink:NamedThing Diamond-Blackfan anemia A congenital aregenerative and often macrocytic anemia with erythroblastopenia. tmpaxzxjjyw_mondo_relaxed.owl congenital pure red cell aplasia|anemia congenital erythroid hypoplastic|chronic constitutional pure red cell anaemia|erythrogenesis imperfecta|Blackfan Diamond syndrome|Red cell aplasia, pure hereditary|congenital hypoplastic anemia|Diamond-Blackfan anemia|anemia Diamond Blackfan type|BDS|congenital hypoplastic anemia, Blackfan-Diamond type|congenital PRCA|Blackfan-Diamond anemia|Aase-Smith II syndrome|Blackfan - Diamond syndrome|inherited erythroblastopenia|Aase syndrome|aregenerative anemia chronic congenital|DBA OMIM:615909|UMLS:C1260899|OMIM:105650|OMIM:300946|OMIM:612527|OMIM:606164|OMIM:606129|OMIM:614900|NCIT:C61236|OMIMPS:105650|SCTID:88854002|MedDRA:10062989|MESH:D029503|OMIM:613308|OMIM:610629|OMIM:612563|ICD10:D61.01|Orphanet:124|OMIM:615550|OMIM:612562|OMIM:612528|ICD10:D61.0|OMIM:613309|UMLS:C0265265|GARD:0006274|OMIM:612561|DOID:1339 owl:Class MONDO:0019453 biolink:NamedThing refractory cytopenia with multilineage dysplasia Refractory cytopenias with multilineage dysplasia (RCMD) is a frequent subtype of myelodysplastic syndrome (MDS) characterized by 1 or more cytopenias in the peripheral blood and dysplasia in 2 or more myeloid lineages. tmpaxzxjjyw_mondo_relaxed.owl RCMD|MDS-MLD|myelodysplastic syndrome with multilineage dysplasia|refractory cytopenia with multilineage dysplasia NCIT:C8574|ICD10:D46.A|SCTID:415285009|Orphanet:86836|ICD9:238.72|ICD10:D46.7|UMLS:C0796466|ICDO:9985/3|MedDRA:10067959 owl:Class MONDO:0018881 biolink:NamedThing myelodysplastic syndrome A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl MDS|myelodysplastic syndrome/neoplasm|preleukemia|smoldering leukemia|myelodysplastic syndromes|oligoblastic leukemia|hematopoeitic - myelodysplastic syndrome (MDS)|myelodysplasia|myelodysplastic neoplasm|myelodysplastic syndrome, susceptibility to|dysmyelopoietic syndrome|myelodysplastic syndrome Orphanet:52688|EFO:0000198|ICD9:238.75|ICD9:238.7|GARD:0007132|NCIT:C3247|UMLS:C0033027|OMIM:614286|DOID:0050908|UMLS:C3463824|ONCOTREE:MDS|MedDRA:10028532|SCTID:109995007|ICDO:9989/3 owl:Class UBERON:0002824 biolink:NamedThing vestibular ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006585 biolink:NamedThing vestibular organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021047 biolink:NamedThing breast phyllodes tumor A benign, malignant, or borderline circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a spindle cell mesenchymal (stromal) component. tmpaxzxjjyw_mondo_relaxed.owl phyllodes breast neoplasm|phyllodes tumor of breast|phyllodes neoplasm of the breast|cystosarcoma phyllodes of the breast|breast phyllodes tumor|phyllodes breast tumor|phyllodes neoplasm of breast|cystosarcoma phyllodes of breast|breast cystosarcoma phyllodes|phyllodes tumor of the breast|cystosarcoma phylloides of the breast|cystosarcoma phylloides - breast|breast phyllodes neoplasm GARD:0009514|ONCOTREE:PT|NCIT:C7575|SCTID:712989008 owl:Class MONDO:0021046 biolink:NamedThing breast fibroepithelial neoplasm A benign or malignant biphasic neoplasm that arises from the breast parenchyma. It is characterized by the presence of an epithelial and a mesenchymal (stromal) component. The typical examples are fibroadenoma and phyllodes tumor. tmpaxzxjjyw_mondo_relaxed.owl breast fibroepithelial neoplasm|breast fibroepithelial neoplasms|BFN|breast fibroepithelial tumor UMLS:C1511309|ONCOTREE:BFN|NCIT:C40405 owl:Class NCBITaxon:6933 biolink:NamedThing Acari tmpaxzxjjyw_mondo_relaxed.owl mites and ticks|mites & ticks|Acarina GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6854 biolink:NamedThing Arachnida tmpaxzxjjyw_mondo_relaxed.owl arachnids GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007496 biolink:NamedThing dystonia 12 Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress. tmpaxzxjjyw_mondo_relaxed.owl dystonia type 12|dystonia 12|dystonia-Parkinsonism, rapid-onset|DYT-ATP1A3|DYT12|RDP|dystonic disorder caused by mutation in ATP1A3|rapid-onset dystonia-parkinsonism|ATP1A3 dystonic disorder GARD:0009628|UMLS:C1868681|DOID:0090056|OMIM:128235|ICD10:G24.1|Orphanet:71517|SCTID:702323008|MESH:C538001 owl:Class MONDO:0044807 biolink:NamedThing inherited dystonia An instance of dystonic disorder that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl rare genetic dystonia|rare genetic dystonic disorder|familial dystonia|hereditary dystonic disorder Orphanet:391799|UMLS:CN227322|NCIT:C35527|OMIMPS:128100 owl:Class UBERON:0004331 biolink:NamedThing proximal phalanx of manual digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002234 biolink:NamedThing proximal phalanx of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11191 biolink:NamedThing SOX11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011335 biolink:NamedThing spondyloepimetaphyseal dysplasia with multiple dislocations A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity. tmpaxzxjjyw_mondo_relaxed.owl spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type|spondyloepimetaphyseal dysplasia with JOINT laxity type 2|spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with JOINT laxity, type 2|spondyloepimetaphyseal dysplasia with joint laxicity, Hall type|spondyloepimetaphyseal dysplasia with Joint laxity, Hall type|spondyloepimetaphyseal dysplasia with multiple dislocations Hall type|spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type|SEMDJL2|spondyloepimetaphyseal dysplasia with Joint laxity, type 2|SEMD-MD|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type ICD10:Q77.7|MESH:C535784|NCIT:C125419|SCTID:766820007|UMLS:C1863732|DOID:0112199|OMIM:603546|GARD:0009866|Orphanet:93360 https://rarediseases.info.nih.gov/diseases/9866/spondyloepimetaphyseal-dysplasia-with-multiple-dislocations owl:Class MONDO:0019675 biolink:NamedThing spondyloepimetaphyseal dysplasia with joint laxity A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment. tmpaxzxjjyw_mondo_relaxed.owl spondyloepimetaphyseal dysplasia with joint laxity type 1|SEMD-JL|spondyloepimetaphyseal dysplasia with joint laxity, Beighton type|SEMDJL1|spondyloepimetaphyseal dysplasia joint laxity|SEMDJL|spondyloepimetaphyseal dysplasia with joint laxity ICD9:756.9|Orphanet:93359|SCTID:254100000|OMIMPS:271640|DOID:0112197|MESH:C562968|ICD10:Q77.7|GARD:0004982|OMIM:271640|ICD9:719.80 owl:Class MONDO:0013603 biolink:NamedThing myopia 20, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl myopia 20, autosomal dominant|MYP20 OMIM:614166|UMLS:C3279996 owl:Class MONDO:0004175 biolink:NamedThing mucin-rich endometrial endometrioid adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1513711|DOID:7293|NCIT:C8717 owl:Class MONDO:0005461 biolink:NamedThing endometrium adenocarcinoma An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl endometrial adenocarcinoma|endometrioid carcinoma of endometrium|endometrioid adenoma or carcinoma|adenocarcinoma of uterus|endometrial adenoacanthoma|endometrioid adenoma or carcinoma NOS (morphologic abnormality)|endometrium adenocarcinoma|adenocarcinoma, endometrial, malignant|adenocarcinoma of endometrium|endometrioid adenomas and carcinomas|adenocarcinoma of the endometrium|endometrial endometrioid adenocarcinoma with squamous differentiation|endometrial endometrioid adenocarcinoma|endometrioid adenomas and carcinomas (morphologic abnormality) EFO:0005232|UMLS:C1336905|DOID:2870|NCIT:C7359|NCIT:C6287|UMLS:C0279763|UMLS:C1153706 owl:Class NCBITaxon:2683629 biolink:NamedThing Opalozoa tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2683628 biolink:NamedThing Bigyra tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0090324 biolink:NamedThing negative regulation of oxidative phosphorylation Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901856 biolink:NamedThing negative regulation of cellular respiration Any process that stops, prevents or reduces the frequency, rate or extent of cellular respiration. tmpaxzxjjyw_mondo_relaxed.owl downregulation of oxidative metabolism|down-regulation of respiration|down regulation of cellular respiration|inhibition of oxidative metabolic process|negative regulation of respiration|downregulation of oxidative metabolic process|inhibition of cellular respiration|down regulation of oxidative metabolic process|downregulation of cellular respiration|negative regulation of oxidative metabolism|inhibition of oxidative metabolism|down-regulation of oxidative metabolism|down regulation of oxidative metabolism|down regulation of respiration|down-regulation of oxidative metabolic process|negative regulation of oxidative metabolic process|down-regulation of cellular respiration|downregulation of respiration|inhibition of respiration owl:Class MONDO:0013539 biolink:NamedThing hypotonia-failure to thrive-microcephaly syndrome Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly. tmpaxzxjjyw_mondo_relaxed.owl leukotriene C4 synthase deficiency|LTC4 synthase deficiency OMIM:614037|UMLS:C3279662|Orphanet:79507|MESH:C565439|SCTID:717185008 owl:Class GO:2000678 biolink:NamedThing negative regulation of transcription regulatory region DNA binding Any process that stops, prevents or reduces the frequency, rate or extent of transcription regulatory region DNA binding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000677 biolink:NamedThing regulation of transcription regulatory region DNA binding Any process that modulates the frequency, rate or extent of transcription regulatory region DNA binding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:84144 biolink:NamedThing L-phenylalanine derivative A proteinogenic amino acid derivative resulting from reaction of L-phenylalanine at the amino group or the carboxy group, or from the replacement of any hydrogen of L-phenylalanine by a heteroatom. tmpaxzxjjyw_mondo_relaxed.owl L-phenylalanine derivatives owl:Class CHEBI:83811 biolink:NamedThing proteinogenic amino acid derivative Any derivative of a proteinogenic amino acid resulting from reaction at an amino group, carboxy group, or a side-chain functional group, or from the replacement of any hydrogen by a heteroatom. tmpaxzxjjyw_mondo_relaxed.owl canonical amino acid derivative|proteinogenic amino-acid derivatives|proteinogenic amino acid derivatives|canonical amino-acid derivatives|proteinogenic amino-acid derivative|canonical amino-acid derivative|canonical amino acid derivatives owl:Class HP:0002121 biolink:NamedThing Generalized non-motor (absence) seizure A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. tmpaxzxjjyw_mondo_relaxed.owl Brief seizures with staring spells|Absence seizures|Generalised non-motor seizure|Petit mal|Absence seizure|Petit mal seizures|Generalised non-motor (absence) seizure|Petit mal seizure SNOMEDCT_US:79631006|SNOMEDCT_US:230413002|MSH:D004832|SNOMEDCT_US:432241000124101|SNOMEDCT_US:50866000|UMLS:C0014553 in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. HP:0007143|HP:0011148 human_phenotype owl:Class HP:0002197 biolink:NamedThing Generalized-onset seizure A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. tmpaxzxjjyw_mondo_relaxed.owl Generalized-onset seizures|Generalised-onset seizure|Generalized seizures|Primary generalised seizure|Generalised seizures|Generalized onset seizure|Generalised onset seizure|Primary generalized seizure UMLS:C0234533|UMLS:C1833488|SNOMEDCT_US:246545002|MSH:D012640 in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalised onset does not rule out a focal-onset obscured by limitations of our current clinical methods. HP:0007339|HP:0002409|HP:0007114 human_phenotype owl:Class MONDO:0100408 biolink:NamedThing acute myeloid leukemia, t(16;21)(q24;q22) Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(q24;q22). (A cytogenetic abnormality that refers to the translocation of the long arm (q24) of chromosome 16 and the long arm (q22) of chromosome 22. It is associated with RUNX1/CBFA2T3 fusions, myelodysplastic syndromes and acute myeloid leukemia.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(16;21)(q24;q22) NCIT:C168773 owl:Class MONDO:0015942 biolink:NamedThing frontometaphyseal dysplasia Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss. tmpaxzxjjyw_mondo_relaxed.owl frontometaphyseal dysplasia|FMD ICD9:759.89|DOID:0111785|OMIM:617137|GARD:0000826|OMIM:305620|ICD10:Q78.5|SCTID:62803002|OMIMPS:305620|Orphanet:1826|MESH:C538064 owl:Class MONDO:0018233 biolink:NamedThing otopalatodigital syndrome spectrum disorder Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects. tmpaxzxjjyw_mondo_relaxed.owl OPD spectrum disorder|OPSD DOID:0111782|Orphanet:364541|UMLS:C2748918 owl:Class HP:0003473 biolink:NamedThing Fatigable weakness A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. tmpaxzxjjyw_mondo_relaxed.owl Proximal muscle weakness due to defect at the neuromuscular junction|Generalised muscle weakness due to defect at the neuromuscular junction|Generalized muscle weakness due to defect at the neuromuscular junction|Myasthenia|Myasthenic weakness|Fatigable weakness of limb muscles UMLS:C0947912 This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering. HP:0003399|HP:0100794|HP:0003428 human_phenotype owl:Class HP:0001324 biolink:NamedThing Muscle weakness Reduced strength of muscles. tmpaxzxjjyw_mondo_relaxed.owl Muscular weakness|Muscle weakness MSH:D018908|SNOMEDCT_US:26544005|UMLS:C0151786 It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. HP:0009012|HP:0008979|HP:0009061|HP:0002309 human_phenotype owl:Class MONDO:0020537 biolink:NamedThing occupational allergic alveolitis Occupational allergic alveolitis designates a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her occupational environment. Symptoms vary depending on the antigen and the form (acute, subacute, chronic) of the disease. They may be cough, dyspnea, chills, fever, weight loss, loss of appetite and general malaise tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99909 owl:Class MONDO:0022736 biolink:NamedThing occupational lung disease tmpaxzxjjyw_mondo_relaxed.owl Occupational respiratory disease|Occupational inhalation disease|Occupational lung disorder|Occupational lung disease|Occupational pulmonary disease ICD9:508.9|SCTID:86157004|UMLS:C0264421|GARD:0012752 owl:Class MONDO:0019237 biolink:NamedThing inborn disorder of pyridoxine metabolism An acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process. tmpaxzxjjyw_mondo_relaxed.owl inborn error of pyridoxine metabolic process|rare inborn error of pyridoxine metabolic process|disorder of pyridoxine metabolism|inborn pyridoxine metabolic process disorder Orphanet:79192|UMLS:CN227600|ICD10:G40.8 owl:Class HGNC:7788 biolink:NamedThing NFIX tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0003707 biolink:NamedThing steroid hormone receptor activity Combining with a steroid hormone and transmitting the signal within the cell to initiate a change in cell activity or function. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0099577 biolink:NamedThing regulation of translation at presynapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the presynapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046485 biolink:NamedThing ether lipid metabolic process The chemical reactions and pathways involving ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol. tmpaxzxjjyw_mondo_relaxed.owl plasmalogen metabolic process|ether lipid metabolism owl:Class GO:0006662 biolink:NamedThing glycerol ether metabolic process The chemical reactions and pathways involving glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol. tmpaxzxjjyw_mondo_relaxed.owl glycerol ether metabolism owl:Class MONDO:0001456 biolink:NamedThing cobblestone retinal degeneration tmpaxzxjjyw_mondo_relaxed.owl paving stone retinal degeneration|paving stone degeneration of retina UMLS:C0154854|DOID:12166|SCTID:69134001|ICD10:H35.43|ICD9:362.61 owl:Class MONDO:0001451 biolink:NamedThing peripheral retinal degeneration Degeneration of the peripheral retina. tmpaxzxjjyw_mondo_relaxed.owl peripheral retinal Degeneration|peripheral degeneration of retina UMLS:C1320640|ICD10:H35.40|ICD9:362.6|ICD9:362.60|SCTID:405721006|NCIT:C34919|ICD10:H35.4|DOID:12161 owl:Class MONDO:0000389 biolink:NamedThing atelosteogenesis tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN163181|DOID:0050648|OMIM:256050|OMIM:108720|OMIMPS:108720|SCTID:43814000|OMIM:108721 owl:Class MONDO:0054867 biolink:NamedThing paraomphalocele tmpaxzxjjyw_mondo_relaxed.owl Paraomphalocele, hypogastric|Paraomphalocele, epigastric MESH:C537170 owl:Class MONDO:0009264 biolink:NamedThing gastroschisis Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated. tmpaxzxjjyw_mondo_relaxed.owl eventration|gastroschisis|congenital fissure of the abdominal cavity|abdominal wall defects|laparoschisis EFO:1000949|DOID:11044|ICD9:756.73|Orphanet:2368|MedDRA:10018046|OMIM:230750|UMLS:C0265706|ICD10:Q79.3|GARD:0008661|NCIT:C84725|SCTID:72951007|MESH:D020139 https://rarediseases.info.nih.gov/diseases/8661/gastroschisis owl:Class MONDO:0016938 biolink:NamedThing partial trisomy of chromosome 20 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome type 20|partial duplication of chromosome 20 SCTID:726360002|Orphanet:262692|UMLS:C4518509 owl:Class MONDO:0015425 biolink:NamedThing lethal recessive chondrodysplasia Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988. tmpaxzxjjyw_mondo_relaxed.owl Maroteaux-Stanescu-Cousin syndrome|chondrodysplasia lethal recessive GARD:0001294|ICD10:Q78.8|SCTID:719404009|Orphanet:1423|UMLS:C4304745|UMLS:CN199522 https://rarediseases.info.nih.gov/diseases/1294/chondrodysplasia-lethal-recessive owl:Class MONDO:0022723 biolink:NamedThing chondrodysplasia tmpaxzxjjyw_mondo_relaxed.owl chondrodysplasia SCTID:205465004 owl:Class MONDO:0030043 biolink:NamedThing congenital disorder of glycosylation, type iit tmpaxzxjjyw_mondo_relaxed.owl CDG2T|Cdg Iit|CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt OMIM:618885 owl:Class MONDO:0005501 biolink:NamedThing congenital disorder of glycosylation type II A congenital disorder of glycosylation that involves malfunctioning trimming/processing of the protein-bound oligosaccharide chain. tmpaxzxjjyw_mondo_relaxed.owl congenital disorder of glycosylation type II|MOGS-CDG (CDG-2b)|congenital disorders of glycosylation, type II|MGAT2-CDG|B4GALT1-CDG (CDG-2d)|MOGS-CDG|MGAT2-CDG (CDG-2a)|B4GALT1-CDG OMIM:606056|OMIM:611182|OMIM:300896|OMIM:212066|OMIM:266265|OMIM:616721|OMIM:616828|OMIM:613612|OMIM:613489|MESH:C535747|EFO:0005546|DOID:0050571|OMIM:611209|OMIM:608779|OMIM:614727|OMIMPS:212066|OMIM:603585|OMIM:616829|OMIM:607091|OMIM:614576 owl:Class UBERON:0010569 biolink:NamedThing manual digit 5 metacarpus pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015047 biolink:NamedThing manual digit 5 metacarpus endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032870 biolink:NamedThing cellular response to hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071495 biolink:NamedThing cellular response to endogenous stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006956 biolink:NamedThing Rickettsiosis A group of infectious diseases that is caused by Rickettsia. tmpaxzxjjyw_mondo_relaxed.owl Rickettsia infection|Rickettsia infectious disease|infection, Rickettsia|infections, Rickettsia|Rickettsia disease or disorder|Rickettsiae disease|Rickettsia caused disease or disorder|Rickettsial infectious disorder|Rickettsiosis|Rickettsial infectious disease|Rickettsial disease MESH:D012282|NCIT:C34991|ICD9:083.9|UMLS:C0035585|MedDRA:10061495|EFO:1001162|SCTID:37246009|Orphanet:102021 We classify this using the NCBI Taxon for Rickettsiales to include ehlrichosis and scrub typhus owl:Class MONDO:0005113 biolink:NamedThing bacterial infectious disease An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections. tmpaxzxjjyw_mondo_relaxed.owl Bacteria caused disease or disorder|Bacteria infectious disease|bacterial infectious disease|bacterial infection|bacterial disease|bacterial disorder|infection, bacterial|Bacteria disease or disorder|infections, bacterial ICD9:041.89|ICD9:041.9|DOID:104|ICD10:A49|MESH:D001424|MESH:D016905|EFO:0000771|ICD9:040.89|SCTID:87628006|UMLS:C0004623|NCIT:C2890|MESH:D016908|ICD10:A49.9 owl:Class MONDO:0009528 biolink:NamedThing chylomicron retention disease Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. tmpaxzxjjyw_mondo_relaxed.owl hypobetalipoproteinemia with accumulation of apolipoprotein B-like Protein in intestinal cells|CMRD|chylomicron retention disease|Anderson disease|CRD|lipid Transport defect of intestine|hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells Orphanet:71|ICD10:E78.6|GARD:0009683|UMLS:C0795956|DOID:0060357|OMIM:246700|MESH:C535460|SCTID:702364003|ICD10:E78.3 https://rarediseases.info.nih.gov/diseases/9683/chylomicron-retention-disease owl:Class MONDO:0015180 biolink:NamedThing intestinal disease due to fat malabsorption tmpaxzxjjyw_mondo_relaxed.owl Orphanet:104005|UMLS:CN197522 owl:Class MONDO:0008433 biolink:NamedThing small cell lung carcinoma Small cell lung cancer (SCLC) is a highly aggressive malignant neoplasm, accounting for 10-15% of lung cancer cases, characterized byrapid growth, and early metastasis. SCLC usually manifests as a large hilar mass with bulky mediastinal lymphadenopathy presenting clinically with chest pain, persistent cough, dyspnea, wheezing, hoarseness, hemoptysis, loss of appetite, weight loss, and neurological and endocrine paraneoplastic syndromes. SCLC is primarily reported in elderly people with a history of long-term tobacco exposure. tmpaxzxjjyw_mondo_relaxed.owl oat cell carcinoma (morphologic abnormality)|poorly differentiated endocrine neoplasm|oat cell lung carcinoma|lung small cell neuroendocrine carcinoma|SCLC|oat cell carcinoma of lung|oat cell carcinoma of the lung|small cell lung cancer|small cell carcinoma of lung|lung oat cell carcinoma|small cell carcinoma of the lung|small cell neuroendocrine carcinoma of lung|lung small cell carcinoma|small cell cancer of the lung|oat cell carcinoma|small cell neuroendocrine carcinoma of the lung|SCLC1 NCIT:C4917|OMIM:182280|DOID:5411|DOID:5409|Orphanet:70573|UMLS:CN244903|ICD10:C34.9|MESH:D055752|SCTID:254633006|ICD9:162.9|ONCOTREE:SCLC|EFO:0000702|SCTID:254632001|UMLS:C0262584|KEGG:05222|DOID:0050685 owl:Class MONDO:0025511 biolink:NamedThing inherited neuroendocrine tumor An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic neuroendocrine tumor|hereditary neuroendocrine neoplasm Orphanet:271847|UMLS:CN202530 owl:Class OBO:CHR_9606-chr10 biolink:NamedThing chromosome 10 (Human) tmpaxzxjjyw_mondo_relaxed.owl 10 133797422 0 hg38 owl:Class GO:0005694 biolink:NamedThing chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. tmpaxzxjjyw_mondo_relaxed.owl prophase chromosome|interphase chromosome|chromatid owl:Class CHEBI:50313 biolink:NamedThing onium cation Mononuclear cations derived by addition of a hydron to a mononuclear parent hydride of the pnictogen, chalcogen and halogen families. tmpaxzxjjyw_mondo_relaxed.owl onium cations|onium ion|onium ions owl:Class CHEBI:50312 biolink:NamedThing onium compound tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005017 biolink:NamedThing diffuse gastric adenocarcinoma An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration. tmpaxzxjjyw_mondo_relaxed.owl diffuse type stomach adenocarcinoma|adenocarcinoma of linitis plastica type|gastric diffuse adenocarcinoma|adenocarcinoma of the linitis plastica type|carcinoma, diffuse type|carcinoma, diffuse type (morphologic abnormality)|stomach diffuse type adenocarcinoma|diffuse gastric adenocarcinoma|diffuse adenocarcinoma of the stomach|diffuse stomach adenocarcinoma|diffuse adenocarcinoma of stomach EFO:0000402|DOID:6217|ONCOTREE:DSTAD|NCIT:C4127|NCIT:C9159 owl:Class MONDO:0005036 biolink:NamedThing gastric adenocarcinoma A carcinoma that arises from glandular epithelial cells of the stomach tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of the stomach|stomach adenocarcinoma|adenocarcinoma - stomach|STAD|gastric (stomach) adenocarcinoma|adenocarcinoma of stomach|gastric adenocarcinoma SCTID:408647009|DOID:3717|ONCOTREE:STAD|NCIT:C4004|UMLS:C0278701|Orphanet:464463|EFO:0000503 owl:Class MONDO:0014394 biolink:NamedThing Diamond-Blackfan anemia 13 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS29 gene. tmpaxzxjjyw_mondo_relaxed.owl RPS29 Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPS29|Diamond-Blackfan Anemia type 13|Diamond-Blackfan anemia 13|DBA13 Orphanet:124|UMLS:C4014641|OMIM:615909 owl:Class HP:0000168 biolink:NamedThing Abnormality of the gingiva Any abnormality of the gingiva (also known as gums). tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the gums|Gingival abnormality UMLS:C4021816 The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. human_phenotype owl:Class HP:0011830 biolink:NamedThing Abnormal oral mucosa morphology Abnormality of the oral mucosa. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of mucosa of mouth|Abnormality of oral mucous membrane|Abnormality of oral mucosa|Abnormality of lining of mouth UMLS:C4023170 peter 2012-05-01T10:43:40Z human_phenotype owl:Class MONDO:0017962 biolink:NamedThing 46,XX disorder of sex development induced by fetoplacental androgens excess tmpaxzxjjyw_mondo_relaxed.owl 46,XX DSD induced by fetoplacental androgens excess UMLS:CN227226|Orphanet:325061 owl:Class HP:0011927 biolink:NamedThing Short digit One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. tmpaxzxjjyw_mondo_relaxed.owl Very short digits|Short digit UMLS:C4023124|UMLS:C1860176 Note that the term brachydactyly is reserved for specific patterns of short digits, see HP:0001156. peter 2012-06-10T09:18:42Z human_phenotype owl:Class HP:0011297 biolink:NamedThing Abnormal digit morphology A morphological abnormality of a digit, i.e., of a finger or toe. tmpaxzxjjyw_mondo_relaxed.owl Digital anomalies|Abnormality of fingers or toes|Abnormality of digit UMLS:C3550704 peter 2012-02-11T07:16:22Z human_phenotype owl:Class GO:0090030 biolink:NamedThing regulation of steroid hormone biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046885 biolink:NamedThing regulation of hormone biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. tmpaxzxjjyw_mondo_relaxed.owl regulation of hormone biosynthesis|regulation of hormone synthesis|regulation of hormone formation|regulation of hormone anabolism owl:Class MONDO:0011058 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 9 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant deafness 9|autosomal dominant nonsyndromic deafness 9|COCH autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in COCH|autosomal dominant nonsyndromic deafness type 9|DFNA9|deafness, autosomal dominant type 9|deafness, autosomal dominant 9 UMLS:C1832425|ICD10:H90.3|DOID:0110593|OMIM:601369|MESH:C563335 owl:Class MONDO:0012959 biolink:NamedThing psoriasis 11, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl psoriasis 11, susceptibility to|PSORS11 DOID:0111285|OMIM:612599 owl:Class MONDO:0005083 biolink:NamedThing psoriasis An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp. tmpaxzxjjyw_mondo_relaxed.owl ICD9:696|OMIM:602723|OMIM:612410|MESH:D011565|OMIM:610707|OMIM:605606|OMIM:612599|ICD9:696.5|ICD9:696.1|GARD:0010262|OMIM:601454|ICD10:L40.9|OMIMPS:177900|OMIM:603935|OMIM:604316|OMIM:605364|DOID:8893|NCIT:C3346|SCTID:9014002|ICD10:L40|OMIM:177900|ICD9:696.8|EFO:0000676|OMIM:614070|OMIM:607857|OMIM:612950|UMLS:C0033860 owl:Class UBERON:0002001 biolink:NamedThing joint of rib tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010783 biolink:NamedThing Erythema Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. tmpaxzxjjyw_mondo_relaxed.owl Redness of skin or mucous membrane SNOMEDCT_US:238810007|SNOMEDCT_US:271811009|MSH:D004890|MSH:D005483|UMLS:C0016382|UMLS:C0041834|SNOMEDCT_US:70819003|SNOMEDCT_US:444827008|SNOMEDCT_US:86735004|SNOMEDCT_US:20255002|SNOMEDCT_US:247441003 peter 2010-04-30T11:40:43Z human_phenotype owl:Class HP:0011276 biolink:NamedThing Vascular skin abnormality tmpaxzxjjyw_mondo_relaxed.owl Vascular abnormalities restricted to skin|Skin vascular malformation UMLS:C0162819|SNOMEDCT_US:11263005|MSH:D017445|UMLS:C1842892 peter 2011-12-29T08:52:53Z human_phenotype owl:Class CL:1000361 biolink:NamedThing transitional myocyte of interatrial septum A transitional myocyte that is part of the interatrial septum. tmpaxzxjjyw_mondo_relaxed.owl FMA:263152 cell owl:Class CL:0002073 biolink:NamedThing transitional myocyte Specialized cardiac myocyte which is in the internodal tract and atrioventricular node. The cell is more slender than ordinary atrial myocytes and has more myofibrils than nodal myocytes. tmpaxzxjjyw_mondo_relaxed.owl FMA:67142 tmeehan 2010-06-29T02:39:32Z cell owl:Class OBO:CHR_9606-chr3p25 biolink:NamedThing 3p25 (Human) tmpaxzxjjyw_mondo_relaxed.owl 16300000 8100000 hg38 owl:Class PO:0009001 biolink:NamedThing fruit A multi-tissue plant structure (PO:0025496) that develops from a gynoecium (PO:0009062), or a single carpel (PO:0009030), and at maturity may have as parts one or more seeds (PO:0009010). tmpaxzxjjyw_mondo_relaxed.owl dehiscent fruit (broad)|syncarp (narrow)|compound fruit (broad)|propagule (broad)|diaspore (broad)|frucht (exact, German)|multiple fruit (broad)|indehiscent fruit (broad)|fruto (exact, Spanish)|果実 (exact, Japanese)|coenocarp (narrow)|aggregate fruit (broad) PO_GIT:76 A fruit (PO:0009001) may contain additional plant structures (PO:0009011) that were part of a flower (PO:0009046) and mature along with the gynoecium, such as a receptacle (PO:0009064). A fruit may develop without fertilization in cases of parthenocarpy, apomixis, or other hormone-induced conditions and may not always contain seeds (PO:0009010). When annotating to fruit (PO:0009001) that are referred to as ‘aggregate’, ‘multiple’, or ‘compound’, please annotate directly to the appropriate plant structure, such as receptacle, hypanthium (PO:0009065) or infructescence (PO:0006342). Fruits only occur in angiosperms. PO:0020070|PO:0020083|PO:0020087|PO:0020069|PO:0020074|PO:0020073|PO:0020071|PO:0020072|PO:0020079|PO:0020067|PO:0020080|PO:0020078|PO:0020082|PO:0020107|PO:0020076|PO:0020077|PO:0020068 plant_anatomy owl:Class PO:0025496 biolink:NamedThing multi-tissue plant structure A plant structure (PO:0009011) that has as parts two or more portions of plant tissue (PO:0009007) of at least two different types and which through specific morphogenetic processes forms a single structural unit demarcated by primarily bona-fide boundaries from other structural units of different types. tmpaxzxjjyw_mondo_relaxed.owl estructura vegetal con múltiples tejidos (Spanish, exact)|複数の組織からなる植物構造 (Japanese, exact) PO_GIT:480 Most multi-tissue plant structures have at least a small connection to other plant structures via a fiat boundary, such as where a leaf (PO:0025034) connects to a shoot axis (PO:0025029), a petal (PO:0009032) connects to a receptacle (PO:0009064), or a branch (PO:0025073) connects to a stem (PO:0009047). Refers to CARO:0000055 multi-tissue structure, def'n: Anatomical structure that has as parts two or more portions of tissue of at least two different types, and which through specific morphogenetic processes, form a single distinct structural unit demarcated by bona-fide boundries from other structural units of differnt types. Laurel_Cooper 2012-06-11T14:57:00Z plant_anatomy owl:Class MONDO:0033007 biolink:NamedThing Galloway-Mowat syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl Galloway-Mowat syndrome 3|GAMOS3 Orphanet:2065|UMLS:CN570505|DOID:0080245|OMIM:617729 owl:Class MONDO:0009627 biolink:NamedThing Galloway-Mowat syndrome Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies. tmpaxzxjjyw_mondo_relaxed.owl Galloway syndrome|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities|hiatal hernia-microcephaly-nephrosis, Galloway type|GAMOS|spinocerebellar ataxia, autosomal recessive 5|microcephaly, hiatal hernia and nephrotic syndrome|nephrosis-neuronal dysmigration syndrome|microcephaly-hiatus hernia-nephrotic syndrome|nephrosis-microcephaly syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly nephrosis syndrome|Galloway Mowat syndrome|microcephaly, hiatal hernia, and nephrotic syndrome|nephrosis neuronal dysmigration syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|Galloway-Mowat syndrome GARD:0000065|NCIT:C132195|MESH:C537548|SCTID:721297008|ICD10:Q04.3|DOID:0080694|GARD:65|OMIM:251300|Orphanet:2065|UMLS:C0795949|OMIMPS:251300 owl:Class GO:0045938 biolink:NamedThing positive regulation of circadian sleep/wake cycle, sleep Any process that activates or increases the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. tmpaxzxjjyw_mondo_relaxed.owl upregulation of circadian sleep/wake cycle, sleep|up regulation of circadian sleep/wake cycle, sleep|positive regulation of sleep|stimulation of circadian sleep/wake cycle, sleep|up-regulation of circadian sleep/wake cycle, sleep|activation of circadian sleep/wake cycle, sleep owl:Class HGNC:7703 biolink:NamedThing NDUFB8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007482 biolink:NamedThing dyschondrosteosis-nephritis syndrome Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis. tmpaxzxjjyw_mondo_relaxed.owl dyschondrosteosis nephritis|dyschondrosteosis and nephritis|mesomelic shortening and hereditary nephritis GARD:0001994|OMIM:127350|MESH:C565080|ICD10:Q87.8|UMLS:C1851986|Orphanet:1765 https://rarediseases.info.nih.gov/diseases/1994/dyschondrosteosis-nephritis owl:Class MONDO:0019697 biolink:NamedThing mesomelic and rhizo-mesomelic dysplasia tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN229208|Orphanet:93438 owl:Class MONDO:0016540 biolink:NamedThing congenital secondary polycythemia tmpaxzxjjyw_mondo_relaxed.owl congenital secondary erythrocytosis Orphanet:238536|ICD10:D75.1 owl:Class MONDO:0009332 biolink:NamedThing congenital hematological disorder A disorder of the blood that is present at birth. tmpaxzxjjyw_mondo_relaxed.owl congenital hematological system disease|congenital hematological disorder NCIT:C104003 owl:Class MONDO:0002235 biolink:NamedThing eyelid neoplasm A benign or malignant neoplasm that affects the eyelid. Representative examples include hemangioma, nevus, and carcinoma. tmpaxzxjjyw_mondo_relaxed.owl tumor of eyelid|eyelid neoplasm|neoplasm of eyelid|eyelid tumor|palpebral tumor|tumor of the eyelid|eyelid neoplasm (disease)|neoplasm of the eyelid UMLS:C0015424|DOID:2173|NCIT:C3031|SCTID:278697001|MESH:D005142|Orphanet:98580|EFO:1000934 owl:Class HGNC:29 biolink:NamedThing ABCA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004396 biolink:NamedThing cervical spinal canal and spinal cord meningioma A meningioma that arises from the meninges of the cervical region of the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl cervical intraspinal meningioma|meningioma of cervical spinal canal and spinal cord|meningioma of the cervical spinal canal and spinal cord UMLS:C1332916|NCIT:C5296|DOID:7915 owl:Class MONDO:0001279 biolink:NamedThing intraspinal meningioma A meningioma that arises from the spinal meninges. tmpaxzxjjyw_mondo_relaxed.owl intraspinal meningioma|meningioma of the spinal canal and spinal cord|spinal canal and spinal cord meningioma|meningioma of spinal canal and spinal cord UMLS:C1334264|NCIT:C5134|DOID:1140 owl:Class MONDO:0013197 biolink:NamedThing hypertrophic cardiomyopathy 14 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic cardiomyopathy caused by mutation in MYH6|cardiomyopathy, familial hypertrophic, type 14|cardiomyopathy, familial hypertrophic, 14|MYH6 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 14|CMH14|hypertrophic cardiomyopathy type 14 MESH:C567684|OMIM:613251|DOID:0110320|UMLS:C2750467 owl:Class MONDO:0005045 biolink:NamedThing hypertrophic cardiomyopathy A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. tmpaxzxjjyw_mondo_relaxed.owl HCM - hypertrophic cardiomyopathy|hypertrophic obstructive cardiomyopathy|familial hypertrophic cardiomyopathy|hypertrophic cardiomyopathy|obstructive hypertrophic cardiomyopathy|hypertrophic subaortic stenosis OMIM:608751|ICD10:I42.1|OMIM:613838|OMIMPS:192600|OMIM:600858|EFO:0000538|OMIM:115196|OMIM:613690|DOID:11984|OMIM:613875|OMIM:192600|UMLS:C0007194|Orphanet:217569|ICD9:425.1|ICD9:425.4|OMIM:601493|OMIM:613255|OMIM:613873|MESH:D002312|NCIT:C34449|SCTID:233873004|KEGG:05410|OMIM:115197|NCIT:C84773|MedDRA:10020871|OMIM:612098|OMIM:613874|OMIM:613765|OMIM:613251|ICD9:425.11 owl:Class MONDO:0002740 biolink:NamedThing uterine ligament mucinous adenocarcinoma A rare mucinous adenocarcinoma that arises from the uterine ligament. tmpaxzxjjyw_mondo_relaxed.owl uterine ligament mucinous adenocarcinoma UMLS:C1519869|DOID:3699|NCIT:C40137 owl:Class MONDO:0004957 biolink:NamedThing mucinous adenocarcinoma An invasive adenocarcinoma composed of malignant glandular cells which contain intracytoplasmic mucin. Often, the infiltrating glandular structures are associated with mucoid stromal formation. It may arise from the large and small intestine, appendix, stomach, lung, ovary, breast, corpus uteri, cervix, vagina, and salivary gland. tmpaxzxjjyw_mondo_relaxed.owl mucous adenocarcinoma|mucin-secreting carcinoma|mucinous carcinoma|gelatinous adenocarcinoma|mucoid adenocarcinoma|colloid carcinoma|pseudomyxoma peritonei with unknown primary site|mucin-secreting adenocarcinoma|mucin-producing adenocarcinoma (morphologic abnormality)|mucous carcinoma|CEMU|colloid adenocarcinoma|mucinous adenocarcinoma|gelatinous carcinoma|mucin-producing adenocarcinoma|mucinuos carcinoma|adenocarcinoma, mucinous, malignant|mucoid carcinoma MESH:D002288|UMLS:C0007130|NCIT:C26712|ONCOTREE:CEMU|ICDO:8480/3|EFO:0000197|UMLS:C0334368|DOID:3030 owl:Class MONDO:0024336 biolink:NamedThing vulvar adenocarcinoma An adenocarcinoma that arises from the vulva. Representative examples include Bartholin gland adenocarcinoma, eccrine adenocarcinoma, apocrine adenocarcinoma, and sebaceous carcinoma. tmpaxzxjjyw_mondo_relaxed.owl vulvar adenocarcinoma|mammalian vulva adenocarcinoma|adenocarcinoma of the vulva|adenocarcinoma of vulva|vulva adenocarcinoma NCIT:C6380|Orphanet:494454|DOID:2098|UMLS:C1336975 owl:Class UBERON:0005501 biolink:NamedThing rhombomere lateral wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005496 biolink:NamedThing neural tube lateral wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016248 biolink:NamedThing familial ovarian cancer An instance of ovarian cancer that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary ovarian cancer|familial ovarian cancer|familial ovarian malignant tumor UMLS:CN201036|ICD10:C56|Orphanet:213517 owl:Class MONDO:0008170 biolink:NamedThing ovarian cancer A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas. tmpaxzxjjyw_mondo_relaxed.owl ovarian neoplasm|cancer of ovary|malignant tumor of the ovary|ovary neoplasm|cancer of the ovary|ovarian cancer, epithelial|tumor of the ovary|primary ovarian cancer|malignant tumor of ovary|malignant tumour of ovary|malignant ovary neoplasm|malignant neoplasm of ovary|malignant neoplasm of the ovary|ovary cancer|malignant ovarian tumor|malignant ovarian neoplasm|ovarian malignant tumor|ovarian cancer GARD:0007295|NCIT:C7431|SCTID:363443007|ICD9:183.0|OMIM:167000|ICD10:C56|DOID:2394|NCIT:C4984|MESH:D010051|OMIM:607893|Orphanet:213500|SCTID:123843001 owl:Class UBERON:0004264 biolink:NamedThing lower leg skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000014 biolink:NamedThing zone of skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0040676 biolink:NamedThing great vessel cancer A malignant neoplasm arising from the great vessels. tmpaxzxjjyw_mondo_relaxed.owl great vessel of heart cancer|great vessel cancer|malignant great vessel of heart neoplasm|malignant neoplasm of great vessel of heart|malignant great vessel tumor|malignant great vessel neoplasm|cancer of great vessel of heart NCIT:C4575|UMLS:C3665405 owl:Class MONDO:0011592 biolink:NamedThing exudative vitreoretinopathy 3 tmpaxzxjjyw_mondo_relaxed.owl EVR3|exudative vitreoretinopathy 3 MESH:C565297|UMLS:C1854002|OMIM:605750|DOID:0111409|Orphanet:891 owl:Class MONDO:0019516 biolink:NamedThing exudative vitreoretinopathy Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness. tmpaxzxjjyw_mondo_relaxed.owl familial exudative vitreoretinopathy|Criswick-Schepens syndrome|exudative vitreoretinopathy, familial|FEVR UMLS:C4072980|OMIM:605750|GARD:0001613|OMIMPS:133780|OMIM:305390|OMIM:133780|ICD9:362.10|Orphanet:891|DOID:0050535|ICD10:H35.00|MESH:C536382|ICD10:H35.0|OMIM:601813|OMIM:616468|OMIM:613310|UMLS:C1851402|SCTID:232063007|MESH:C580083 owl:Class MONDO:0015280 biolink:NamedThing cardiofaciocutaneous syndrome Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl cardiofaciocutaneous syndrome|cardio-facio-cutaneous syndrome|CFC syndrome|cardio-facial-cutaneous syndrome|CFC|cardiofaciocutaneous (CFC) syndrome|congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure NCIT:C84617|OMIM:615280|OMIM:615278|OMIM:615279|UMLS:C1275081|GARD:0009146|Orphanet:1340|ICD10:Q87.8|SCTID:403770008|MESH:C535579|OMIMPS:115150|DOID:0060233|OMIM:115150 owl:Class MONDO:0020297 biolink:NamedThing Noonan syndrome and Noonan-related syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98733|UMLS:CN166718|MESH:C537846 owl:Class MONDO:0032631 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 27 tmpaxzxjjyw_mondo_relaxed.owl MC1DN27|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27 OMIM:618248 owl:Class MONDO:0100223 biolink:NamedThing mitochondrial complex I deficiency, nuclear type tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:252010 Editor note: We split out the nuclear type subclass, as OMIMPS:252010 refers to nuclear only. See https://github.com/monarch-initiative/mondo/issues/1042 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016834 biolink:NamedThing 16p11.2p12.2 microduplication syndrome 16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behaviour, behavioural problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. tmpaxzxjjyw_mondo_relaxed.owl trisomy 16p11.2p12.2|dup(16)(p11.2p12.2) SCTID:733518000|UMLS:C4518821|UMLS:CN202168|Orphanet:261204|ICD10:Q92.3 owl:Class MONDO:0009504 biolink:NamedThing mitochondrial DNA depletion syndrome 9 Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial DNA depletion syndrome 9|lactic acidosis, fatal infantile, formerly|fatal infantile lactic acidosis with methylmalonic aciduria|mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)|mitochondrial DNA depletion syndrome caused by mutation in SUCLG1|succinate-CoA ligase deficiency|lactic acidosis, fatal infantile|mitochondrial DNA depletion syndrome type 9|MTDPS9|lactic acidosis congenital infantile|SUCLG1 mitochondrial DNA depletion syndrome OMIM:245400|SCTID:715338007|MESH:C538134|DOID:0080128|ICD10:E71.1|GARD:0003163|Orphanet:17|MESH:C566885 https://rarediseases.info.nih.gov/diseases/3163/lactic-acidosis-congenital-infantile owl:Class MONDO:0018158 biolink:NamedThing mitochondrial DNA depletion syndrome The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome. tmpaxzxjjyw_mondo_relaxed.owl mtDNA depletion syndrome UMLS:CN239350|Orphanet:35698|ICD10:G71.3|OMIMPS:603041|DOID:0070329|MedDRA:10059396 owl:Class HGNC:9606 biolink:NamedThing PTH tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001480 biolink:NamedThing Freckling The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. tmpaxzxjjyw_mondo_relaxed.owl Freckling SNOMEDCT_US:699225003|UMLS:C0016689|SNOMEDCT_US:403536009|MSH:D008548 human_phenotype owl:Class HP:0001000 biolink:NamedThing Abnormality of skin pigmentation An abnormality of the pigmentation of the skin. tmpaxzxjjyw_mondo_relaxed.owl Pigmentary changes|Abnormal skin colour|Abnormality of skin pigmentation|Pigmentary skin changes|Abnormal pigmentation|Abnormal skin pigmentation|Abnormal skin color|Abnormality of pigmentation|Pigmentation anomaly UMLS:C1260926 HP:0200045|HP:0007582 human_phenotype owl:Class MONDO:0003546 biolink:NamedThing third cranial nerve disorder A disease involving the oculomotor nerve. tmpaxzxjjyw_mondo_relaxed.owl oculomotor nerve disorder|disease of oculomotor nerve|oculomotor nerve disease or disorder|disease or disorder of oculomotor nerve|oculomotor nerve disease|disorder of oculomotor nerve MESH:D015840|NCIT:C27598|UMLS:C0271353|DOID:562|SCTID:60750009 owl:Class MONDO:0003569 biolink:NamedThing cranial nerve neuropathy A neoplastic or non-neoplastic disorder that affects one of the cranial nerves. tmpaxzxjjyw_mondo_relaxed.owl cranial neuron projection bundle disease or disorder|cranial nerve disorder|disease of cranial neuron projection bundle|disorder of cranial neuron projection bundle|cranial neuropathy|cranial nerve disease|disorder of cranial nerve|cranial neuron projection bundle disease|disease or disorder of cranial neuron projection bundle SCTID:73013002|ICD10:G52.9|ICD9:352.9|MESH:D003389|DOID:5656|NCIT:C26733|UMLS:C0010266 owl:Class MONDO:0000634 biolink:NamedThing thoracic benign neoplasm A non-metastasizing neoplasm arising from any of the organs of the thoracic cavity. Representative examples include pleural adenomatoid tumor, chest wall lipoma, mediastinal schwannoma, and lung hamartoma. tmpaxzxjjyw_mondo_relaxed.owl thoracic segment of trunk benign neoplasm|benign tumor of the thorax|benign neoplasm of thorax|benign thoracic tumor|benign neoplasm of the thorax|benign thoracic neoplasm|benign tumor of thorax UMLS:C0346440|ICD9:229.8|NCIT:C4565|SCTID:255059002|DOID:0060097 MONDO:0021448 owl:Class MONDO:0021350 biolink:NamedThing neoplasm of thorax A neoplasm (disease) that involves the thoracic segment of trunk. tmpaxzxjjyw_mondo_relaxed.owl tumor of thoracic segment of trunk|tumor of thorax|tumor of the thorax|thoracic tumor|neoplasm of the thorax|neoplasm of thoracic segment of trunk|thoracic segment of trunk tumor|thoracic segment of trunk neoplasm|thoracic segment of trunk neoplasm (disease)|thoracic neoplasm SCTID:255058005|ICD9:239.89|UMLS:C0039981|NCIT:C3406 owl:Class GO:0007140 biolink:NamedThing male meiotic nuclear division A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the male germline. tmpaxzxjjyw_mondo_relaxed.owl male nuclear division|male meiosis owl:Class GO:0140013 biolink:NamedThing meiotic nuclear division One of the two nuclear divisions that occur as part of the meiotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl meiosis owl:Class MONDO:0003543 biolink:NamedThing trigeminal nerve disorder A disease involving the trigeminal nerve. tmpaxzxjjyw_mondo_relaxed.owl disorder of the fifth cranial nerve|disease or disorder of trigeminal nerve|disorders of the vth cranial nerve|disease of trigeminal nerve|trigeminal nerve disease or disorder|disorder of trigeminal nerve|trigeminal nerve disease|disorders of the fifth nerve|trigeminal nerve disorder MESH:D020433|SCTID:64309007|DOID:561|ICD9:350.8|NCIT:C26952 owl:Class MONDO:0005042 biolink:NamedThing head disorder A disease involving the head. tmpaxzxjjyw_mondo_relaxed.owl head disease or disorder|disorder of head|disease of head|head disease|disease or disorder of head SCTID:118934005|UMLS:C1290856|EFO:0000524 owl:Class MONDO:0043127 biolink:NamedThing mehta lewis patton syndrome tmpaxzxjjyw_mondo_relaxed.owl congenital heart disease, ptosis, hypodontia, and craniosynostosis UMLS:C2931120|MESH:C536147|GARD:0003450 owl:Class MONDO:0000728 biolink:NamedThing ptosis The drooping of the upper eyelid. tmpaxzxjjyw_mondo_relaxed.owl blepharoptosis|eyelid ptosis|ptosis|drooping eyelid|ptosis (disease) ptosis (disease) ICD10:H02.409|SCTID:11934000|MESH:D001763|ICD10:H02.40|ICD9:374.30|NCIT:C27298|DOID:0060260|UMLS:C0005745|UMLS:C0033377|HP:0000508|ICD10:H02.4|ICD9:374.3 owl:Class MONDO:0020705 biolink:NamedThing neural tube defects, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl NTD|spina bifida|neural tube defects, SUSCEPTIBILITY to OMIM:182940 owl:Class OBO:CHR_9606-chr12 biolink:NamedThing chromosome 12 (Human) tmpaxzxjjyw_mondo_relaxed.owl 12 133275309 0 hg38 owl:Class GO:0030849 biolink:NamedThing autosome Any chromosome other than a sex chromosome. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015716 biolink:NamedThing anal canal epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001278 biolink:NamedThing epithelium of large intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006661 biolink:NamedThing phosphatidylinositol biosynthetic process The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. tmpaxzxjjyw_mondo_relaxed.owl phosphatidylinositol formation|phosphatidylinositol biosynthesis|phosphoinositide biosynthetic process|PtdIns biosynthetic process|phosphatidylinositol synthesis|PtdIns biosynthesis|phosphoinositide biosynthesis|phosphatidylinositol anabolism owl:Class GO:0046488 biolink:NamedThing phosphatidylinositol metabolic process The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. tmpaxzxjjyw_mondo_relaxed.owl phosphoinositide metabolism|PtdIns metabolism|phosphatidylinositol metabolism|PtdIns metabolic process|phosphoinositide metabolic process owl:Class MONDO:0021500 biolink:NamedThing benign neoplasm of spleen A benign neoplasm that involves the spleen. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the spleen|spleen benign neoplasm|benign splenic neoplasm UMLS:C0686615|ICD9:211.9|SCTID:92408009|NCIT:C4902 owl:Class HGNC:10771 biolink:NamedThing SF3B4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000088 biolink:NamedThing precocious puberty Unusually early sexual maturity. tmpaxzxjjyw_mondo_relaxed.owl pubertas praecox|sexual precocity|familial precocious puberty|idiopathic sexual precocity ICD10:E30.1|ICD10:E22.8|MedDRA:10058084|Orphanet:95708|NCIT:C79704|ICD9:259.1|UMLS:C0034013|HP:0000826|MESH:D011629|MedDRA:10044701|OMIM:176400|SCTID:400179000|GARD:0007446 https://rarediseases.info.nih.gov/diseases/7446/precocious-puberty owl:Class MONDO:0700062 biolink:NamedThing mosaic A disease characteristic in which the cause of the disease is present in some of the cells of the organism. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0700061 biolink:NamedThing mosaic vs complete A disease characteristic in which the cause of the disease is present in some of the cells of the organism, or in all the cells of the organism. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0007242 biolink:NamedThing tunica intima of vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002523 biolink:NamedThing tunica intima tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014885 biolink:NamedThing distal epiphysis of distal phalanx of manual digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000502 biolink:NamedThing villous adenoma An epithelial neoplasm morphologically characterized by the presence of a villous architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. It may also arise in the urinary bladder, urethra, and vagina. tmpaxzxjjyw_mondo_relaxed.owl villous adenoma NCIT:C7399|ICDO:8261/0|MESH:D018253|DOID:0050869|UMLS:C0206674 owl:Class MONDO:0004972 biolink:NamedThing adenoma A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. tmpaxzxjjyw_mondo_relaxed.owl acinar cell adenoma (morphologic abnormality)|adenoma, benign|adenoma|adenomas|acinar cell adenoma|acinic cell adenoma ICDO:8140/0|NCIT:C2855|MESH:D000236|EFO:0000232|DOID:657|UMLS:C0001430|SCTID:443416007 Editor note: check status re benign owl:Class MONDO:0010728 biolink:NamedThing SCARF syndrome SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive. tmpaxzxjjyw_mondo_relaxed.owl skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and Facial abnormalities|SCARF syndrome ICD10:Q82.8|Orphanet:3134|OMIM:312830|UMLS:C1839321|MESH:C536625|GARD:0000247|SCTID:734173003 owl:Class MONDO:0100237 biolink:NamedThing inherited cutis laxa An instance of cutis laxa that is inherited. tmpaxzxjjyw_mondo_relaxed.owl hereditary cutis laxa OMIM:219200|OMIM:219100|OMIM:614437|OMIM:612940|OMIM:614438|OMIM:219150|OMIM:614434|OMIM:123700|OMIM:613177|OMIMPS:123700 http://orcid.org/0000-0001-5208-3432 owl:Class CL:1000436 biolink:NamedThing epithelial cell of lacrimal sac An epithelial cell that is part of the lacrimal sac. tmpaxzxjjyw_mondo_relaxed.owl FMA:70560 cell owl:Class MONDO:0007924 biolink:NamedThing Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis. tmpaxzxjjyw_mondo_relaxed.owl macrocephaly multiple lipomas and hemangiomata|RMSS|Ruvalcaba -Myhre-Smith syndrome|Bannayan-RILEY-Ruvalcaba syndrome|Myhre-Riley-Smith syndrome|Ruvalcaba-MYHRE-SMITH syndrome|Bannayan-Riley-Ruvalcaba syndrome|Ruvalcaba-Myhre-Smith syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|macrocephaly with multiple lipomas and hemangiomas|macrocephaly pseudopapilledema and multiple hemangiomas|macrocephaly, multiple lipomas, and hemangiomata|Bannayan-Zonana syndrome|BRRS|RILEY-SMITH syndrome|Bannayan syndrome|Riley-Smith syndrome|BZS DOID:0050657|ICD10:Q87.8|OMIM:153480|GARD:0005887|SCTID:21984008|NCIT:C3939|ICD9:759.6|UMLS:C0265326|Orphanet:109 https://rarediseases.info.nih.gov/diseases/5887/bannayan-riley-ruvalcaba-syndrome owl:Class GO:0042133 biolink:NamedThing neurotransmitter metabolic process The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. tmpaxzxjjyw_mondo_relaxed.owl neurotransmitter metabolism owl:Class GO:0001505 biolink:NamedThing regulation of neurotransmitter levels Any process that modulates levels of neurotransmitter. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018839 biolink:NamedThing acquired schizencephaly An instance of schizencephaly that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired schizencephaly UMLS:CN776925|Orphanet:485275 owl:Class MONDO:0010011 biolink:NamedThing schizencephaly Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation. tmpaxzxjjyw_mondo_relaxed.owl schizencephaly NCIT:C99056|ICD10:Q04.6|SCTID:253159001|OMIM:269160|Orphanet:799|GARD:0000166|ICD9:742.4 owl:Class NCBITaxon:40674 biolink:NamedThing Mammalia tmpaxzxjjyw_mondo_relaxed.owl mammals GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009695 biolink:NamedThing epithelium of laryngopharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003351 biolink:NamedThing pharyngeal epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030019 biolink:NamedThing anauxetic dysplasia 3 tmpaxzxjjyw_mondo_relaxed.owl ANAUXETIC DYSPLASIA 3|ANXD3|anauxetic dysplasia 3 OMIM:618853 owl:Class MONDO:0011773 biolink:NamedThing anauxetic dysplasia A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. tmpaxzxjjyw_mondo_relaxed.owl spondylometaepiphyseal dysplasia, anauxetic type|anauxetic dysplasia type 1|spondylometaepiphyseal dysplasia Menger type|spondylometaepiphyseal dysplasia, Menger type|ANXD1|spondyloepimetaphyseal dysplasia, Menger type|anauxetic dysplasia|spondyloepimetaphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia anauxetic type|anauxetic dysplasia 1 OMIMPS:607095|UMLS:CN029084|UMLS:C1846796|GARD:0009657|DOID:0050640|ICD10:Q77.7|Orphanet:93347|MESH:C538256 Editor note: consider distinct subclass for type 1 owl:Class MONDO:0000129 biolink:NamedThing glutaric aciduria tmpaxzxjjyw_mondo_relaxed.owl glutaric aciduria (disease)|glutaric acidemia|glutaric aciduria glutaric aciduria (disease) SCTID:28987007|ICD9:270.8|UMLS:C0268594|HP:0003530|HP:0003150 Editor note: check relationship to multiple acyl-CoA dehydrogenase deficiency owl:Class MONDO:0011334 biolink:NamedThing limb-mammary syndrome Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias. tmpaxzxjjyw_mondo_relaxed.owl limb-mammary syndrome|LMS|mammary hypoplasia, ectrodactyly, and other hand/foot anomalies GARD:0010051|SCTID:721972001|Orphanet:69085|MESH:C535903|OMIM:603543 owl:Class MONDO:0010382 biolink:NamedThing fragile X-associated tremor/ataxia syndrome Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia. tmpaxzxjjyw_mondo_relaxed.owl FXTAS|fragile 10 tremor/ataxia syndrome|fragile X tremor/ataxia syndrome|FXTAS syndrome SCTID:448045004|Orphanet:93256|ICD10:G11.2|OMIM:300623|MESH:C564105|UMLS:C1839780|NCIT:C126566|DOID:0050879 owl:Class MONDO:0000916 biolink:NamedThing intestinal infectious disease An infectious disease involving a pathogenic inflammatory response in the intestinal mucosa. tmpaxzxjjyw_mondo_relaxed.owl bacterial enteritis UMLS:C0178238|ICD9:001-009.99|UMLS:C0152516|ICD10:A00.A09|ICD10:A00-A09|DOID:100|ICD9:008.8|SCTID:266071000 owl:Class MONDO:0002269 biolink:NamedThing gastroenteritis An inflammatory disorder that affects the upper and lower gastrointestinal tract. Most commonly, this is attributed to viruses; however bacteria, parasites or adverse reactions can also be the culprit. Symptoms include acute diarrhea and vomiting. tmpaxzxjjyw_mondo_relaxed.owl infectious colitis, enteritis and gastroenteritis|cholera morbus|intestine inflammation|inflammation of intestine UMLS:C0017160|EFO:1001463|DOID:2326|SCTID:25374005|ICD9:558.9|ICD10:K52.9|MESH:D005759|NCIT:C34632 owl:Class MONDO:0004670 biolink:NamedThing lupus erythematosus An autoimmune, connective tissue chronic inflammatory disorder affecting the skin, joints, kidneys, lungs, heart, and the peripheral blood cells. It is more commonly seen in women than men. Variants include discoid and systemic lupus erythematosus. tmpaxzxjjyw_mondo_relaxed.owl lupus|lupus erythematosus DOID:8857|NCIT:C27153|ICD9:695.4|SCTID:200936003|ICD10:L93|ICD10:L93.0|UMLS:C0409974 owl:Class MONDO:0014787 biolink:NamedThing severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome tmpaxzxjjyw_mondo_relaxed.owl corpus callosum, agenesis OF, with FACIAL anomalies and cerebellar ataxia|Birk-Flusser syndrome|CCAFCA|corpus callosum, agenesis of, with Facial anomalies and cerebellar ataxia Orphanet:466688|OMIM:616819|UMLS:C4225193 owl:Class MONDO:0043330 biolink:NamedThing Mirizzi syndrome Complication of cholelithiasis characterized by obstructive jaundice; abdominal pain, and fever. tmpaxzxjjyw_mondo_relaxed.owl hepatic duct dystonia syndrome|syndrome, Mirizzi|Mirizzi's syndrome|mirizzi's syndrome|Mirizzi syndrome|Mirizzis syndrome|syndrome, Mirizzi's Orphanet:521219|MESH:D057792|UMLS:C0267878|EFO:1001860|SCTID:4283007|GARD:0010177 owl:Class MONDO:0006757 biolink:NamedThing extrahepatic cholestasis Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver. tmpaxzxjjyw_mondo_relaxed.owl extrahepatic obstructive biliary disease|extrahepatic bile duct cholestasis|extrahepatic cholestasis (finding)|extrahepatic biliary stasis|cholestasis of extrahepatic bile duct UMLS:C0005398|MedDRA:10008637|DOID:13619|NCIT:C34420|MESH:D001651|EFO:1000933|SCTID:8262006 owl:Class MONDO:0015340 biolink:NamedThing drug rash with eosinophilia and systemic symptoms DRESS syndrome (Drug Rash with Eosinophilia and Systemic Symptoms) is a hypersensitivity reaction characterized by a generalized skin rash, fever, eosinophilia, lymphocytosis and visceral involvement (hepatitis, nephritis, pneumonitis, pericarditis and myocarditis) and, in some patients, reactivation of human herpes virus 6. tmpaxzxjjyw_mondo_relaxed.owl drug reaction eosinophilic systemic syndrome|dress syndrome Orphanet:139402|MESH:D063926|MedDRA:10058919|SCTID:702809001 owl:Class MONDO:0017396 biolink:NamedThing toxic dermatosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:293815 owl:Class CL:1000309 biolink:NamedThing epicardial adipocyte A fat cell that is part of the epicardial fat. tmpaxzxjjyw_mondo_relaxed.owl adipocyte of epicardial fat|epicardial fat cell FMA:261293 cell owl:Class CL:0002494 biolink:NamedThing cardiocyte A cell located in the heart, including both muscle and non muscle cells. tmpaxzxjjyw_mondo_relaxed.owl heart cell FMA:84791|BTO:0001539|CALOHA:TS-0115|FMA:83808 From Onard of the FMA: Cardiac muscle cell or cardiac myocyte is a striated muscle cell. Cardiocyte on the other hand is any cell in the heart which includes cells other than muscle cells (e.g. endothelial cell of endocardium). Unless there is a consensus among anatomists that cardiocytes refer only to muscle cells, we will treat them as a general class of cells in the heart. tmeehan 2010-12-07T09:37:22Z cell owl:Class MONDO:0005739 biolink:NamedThing echinostomiasis Infection by flukes of the genus Echinostoma. tmpaxzxjjyw_mondo_relaxed.owl Echinostomatoidea caused disease or disorder|Echinostomatoidea infectious disease|Echinostomatoidea disease or disorder|infection by Echinochasmus ICD9:121.8|DOID:1218|UMLS:C0013514|EFO:0007246|ICD10:B66.8|MESH:D004451|SCTID:52918004 owl:Class MONDO:0000158 biolink:NamedThing developmental dysplasia of the hip A spectrum of hip abnormalities commonly presenting in infancy involving the relationship between the femoral head and the acetabulum and that includes subluxation or dislocation at rest or upon provocation. tmpaxzxjjyw_mondo_relaxed.owl congenital dysplasia of the hip|congenital acetabular dysplasia|congenital hip dysplasia|dysplasia of acetabulum NCIT:C119752|UMLS:C1840555|ICD9:755.63|MESH:D006618|SCTID:52781008|OMIMPS:142700|EFO:1000648 owl:Class MONDO:0005497 biolink:NamedThing bone development disease A disease involving the bone development. tmpaxzxjjyw_mondo_relaxed.owl bone development disease or disorder|disease of bone development|disorder of bone development|bone development disease|disease or disorder of bone development EFO:0005541|DOID:0080006|SCTID:371521007 owl:Class MONDO:0002375 biolink:NamedThing sebaceous adenoma A benign, well circumscribed neoplasm arising from the sebaceous glands. It usually presents as a small yellowish tumor in the sun exposed skin of head and neck. It is characterized by the presence of sebaceous cells aggregates with a peripheral rim of basaloid cells. tmpaxzxjjyw_mondo_relaxed.owl skin appendage sebaceous adenoma|adenoma of the sebaceous gland|adenoma, sebaceous, benign|adenoma of sebaceous gland|sebaceous gland adenoma|sebaceous adenoma (morphologic abnormality) UMLS:C1368816|ICDO:8410/0|NCIT:C4174|DOID:2648 owl:Class MONDO:0022754 biolink:NamedThing chromosome 17p deletion A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 17. tmpaxzxjjyw_mondo_relaxed.owl partial monosomy 17p|17p- syndrome|partial deletion of chromosome 17p|partial monosomy of the short arm of chromosome type 17|monosomy 17p|loss of chromosome 17p|deletion 17p|del(17p)|chromosome 17p deletion syndrome|partial deletion of the short arm of chromosome 17|chromosome 17p deletion|partial monosomy of the short arm of chromosome 17|17p deletion|interstitial deletion 17p|deletion 17p syndrome|17p monosomy|partial monosomy of chromosome 17p NCIT:C36499|UMLS:CN036220|MESH:C538045|ICD10:Q93.5|GARD:0006075|Orphanet:261965 Editor note: check this, MESH says 17 owl:Class GO:0045760 biolink:NamedThing positive regulation of action potential Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpaxzxjjyw_mondo_relaxed.owl upregulation of action potential|up-regulation of action potential|stimulation of action potential|up regulation of action potential|activation of action potential owl:Class NCBITaxon:85604 biolink:NamedThing Amphiesmenoptera tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33392 biolink:NamedThing Endopterygota tmpaxzxjjyw_mondo_relaxed.owl Holometabola GC_ID:1 ncbi_taxonomy owl:Class GO:0051046 biolink:NamedThing regulation of secretion Any process that modulates the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001332 biolink:NamedThing palindromic rheumatism A syndrome that involves sudden and rapidly developing attacks of arthritis with a remission period that results in no joint damage or symptoms. tmpaxzxjjyw_mondo_relaxed.owl Hench-Rosenberg syndrome|Hench's syndrome GARD:0007304|ICD9:719.32|UMLS:C0085574|ICD9:719.3|MESH:C538103|ICD10:M12.3|ICD9:719.30|ICD9:719.33|ICD9:719.31|ICD9:719.38|DOID:1166|ICD9:719.36|SCTID:50442003|ICD10:M12.30 owl:Class MONDO:0005554 biolink:NamedThing rheumatic disorder Inflammatory and degenerative diseases of connective tissue structures, such as arthritis. tmpaxzxjjyw_mondo_relaxed.owl rheumatologic disorder|collagen vascular disease|rheumatism|enthesopathies|enthesopathy|musculoskeletal pain disorder|inflammatory rheumatism|connective tissue disease|collagen disease|rheumatic disease|diseases, rheumatic|disease, rheumatic EFO:0005755|UMLS:C0035435|ICD9:729.0|SCTID:396332003|NCIT:C27204|DOID:1575|MESH:D012216|Wikipedia:Rheumatism This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue owl:Class MONDO:0006420 biolink:NamedThing small intestinal mucosa-associated lymphoid tissue lymphoma A mucosa-associated lymphoid tissue lymphoma (MALT) that arises from the small intestine. The morphologic characteristics are similar to those seen in gastric MALT lymphomas, with the exception of the lymphoepithelial lesions that are less prominent in the small intestine. tmpaxzxjjyw_mondo_relaxed.owl MALT lymphoma of the small intestine|mucosa-associated lymphoid tissue lymphoma of the small bowel|small intestinal mucosa-associated lymphoid tissue lymphoma|small intestine MALT lymphoma|MALT lymphoma of small bowel|small bowel mucosa-associated lymphoid tissue lymphoma|mucosa-associated lymphoid tissue lymphoma of small intestine|MALT lymphoma of small intestine|mucosa-associated lymphoid tissue lymphoma of small bowel|small intestine MALToma|small intestine mucosa-associated lymphoid tissue lymphoma|MALT lymphoma of the small bowel|MALToma of small intestine|MALToma of the small intestine|MALToma of small bowel|small bowel MALT lymphoma|mucosa-associated lymphoid tissue lymphoma of the small intestine|MALToma of the small bowel|small bowel MALToma NCIT:C5635|EFO:1000537|UMLS:C1336004 owl:Class MONDO:0016575 biolink:NamedThing primary ciliary dyskinesia A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy). tmpaxzxjjyw_mondo_relaxed.owl PCD|ciliary dyskinesia primary|Kartagener syndrome|bronchiectasis, chronic sinusitis and dextrocardia syndrome|Kartagener's syndrome|ciliary motility disorder|Dextrocardia bronchiectasis and sinusitis|ICS|Immotile cilia syndrome, Kartagener type|Primary ciliary dyskinesia and situs inversus|Dextrocardia-bronchiectasis-sinusitis syndrome|immotile ciliary syndrome|Siewert syndrome|Primary ciliary dyskinesia, Kartagener type OMIM:615504|OMIM:615505|OMIM:244400|OMIM:614679|GARD:0006815|OMIM:613808|OMIM:608646|OMIM:215520|OMIMPS:244400|OMIM:611884|MESH:D002925|OMIM:608647|OMIM:613193|OMIM:617092|ICD10:Q34.8|OMIM:616726|OMIM:614935|SCTID:86204009|GARD:0004484|OMIM:608644|SCTID:42402006|UMLS:C0008780|OMIM:615482|OMIM:614017|OMIM:242670|OMIM:612274|OMIM:614874|OMIM:613807|OMIM:615481|OMIM:615294|MESH:D007619|OMIM:615067|DOID:0050144|OMIM:612444|OMIM:617091|DOID:9562|OMIM:612518|OMIM:616481|NCIT:C84797|OMIM:606763|MedDRA:10069713|OMIM:215518|OMIM:616037|OMIM:615451|NCIT:C84638|OMIM:612650|Orphanet:244|OMIM:615872|OMIM:612649|OMIM:615500|OMIM:615444|OMIM:610852|OMIM:242680 Editor note: we deliberately merge two MESHes here owl:Class GO:1904058 biolink:NamedThing positive regulation of sensory perception of pain Any process that activates or increases the frequency, rate or extent of sensory perception of pain. tmpaxzxjjyw_mondo_relaxed.owl activation of sensory perception of pain|upregulation of perception of physiological pain|activation of perception of physiological pain|positive regulation of nociception|upregulation of sensory perception of pain|activation of nociception|up-regulation of perception of physiological pain|up regulation of perception of physiological pain|up regulation of sensory perception of pain|up-regulation of nociception|up regulation of nociception|upregulation of nociception|positive regulation of perception of physiological pain|up-regulation of sensory perception of pain owl:Class GO:0031646 biolink:NamedThing positive regulation of nervous system process Any process that activates or increases the frequency, rate or extent of a neurophysiological process. tmpaxzxjjyw_mondo_relaxed.owl activation of neurological process|stimulation of neurological process|up regulation of neurological process|positive regulation of neurological system process|upregulation of neurological process|positive regulation of neurophysiological process|positive regulation of neurological process|up-regulation of neurological process owl:Class NCBITaxon:33213 biolink:NamedThing Bilateria tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6072 biolink:NamedThing Eumetazoa tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0045836 biolink:NamedThing positive regulation of meiotic nuclear division Any process that activates or increases the frequency, rate or extent of meiosis. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of meiosis|up-regulation of meiosis|stimulation of meiosis|up regulation of meiosis|activation of meiosis|upregulation of meiosis owl:Class GO:0090068 biolink:NamedThing positive regulation of cell cycle process Any process that increases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035045 biolink:NamedThing parotid gland intralobular duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001837 biolink:NamedThing duct of salivary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:436489 biolink:NamedThing Saurischia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:436486 biolink:NamedThing Dinosauria tmpaxzxjjyw_mondo_relaxed.owl dinosaurs|dinosaur GC_ID:1 ncbi_taxonomy owl:Class MONDO:0026768 biolink:NamedThing warfarin sensitivity, X-linked tmpaxzxjjyw_mondo_relaxed.owl WARFARIN SENSITIVITY, X-LINKED|Coumarin Sensitivity, X-Linked 2022-04-01 OMIM:301052 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class OBO:CHR_9606-chr2p1 biolink:NamedThing 2p1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 93900000 47500000 hg38 owl:Class MONDO:0031037 biolink:NamedThing famililal cerebral cavernous malformations A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. tmpaxzxjjyw_mondo_relaxed.owl familial cerebral cavernoma|CCM|cavernous angioma, familial|hereditary brain cavernous angioma|familial cerebral cavernous malformation|cavernous malformations of CNS and retina|familial brain cavernous hemangioma|cavernous angiomatous malformations|cerebral capillary malformations|hereditary brain cavernous hemangioma|cerebral cavernous malformations|hereditary cerebral cavernous malformation|hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|famililal cerebral cavernous malformations|hereditary cerebral cavernoma|familial brain cavernous angioma OMIMPS:116860|SCTID:717003001|Orphanet:221061|OMIM:603284|OMIM:116860|ICD10:Q28.3|OMIM:603285|UMLS:C2931263 owl:Class MONDO:0015145 biolink:NamedThing neurovascular malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:102006 owl:Class MONDO:0015059 biolink:NamedThing progressive non-fluent aphasia Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved. tmpaxzxjjyw_mondo_relaxed.owl non-fluent primary progressive aphasia|Agramatic variant of PPA|Primary Progressive Nonfluent aphasia|non-fluent variant PPA|Agramatic variant of primary progressive aphasia GARD:0010793|NCIT:C85025|SCTID:716281000|ICD10:G31.0|OMIM:607485|OMIM:600274|MedDRA:10029542|MESH:D057178|Orphanet:100070 https://rarediseases.info.nih.gov/diseases/10793/progressive-non-fluent-aphasia owl:Class MONDO:0017643 biolink:NamedThing frontotemporal neurodegeneration with movement disorder tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN227167|Orphanet:306708 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurodegenerative disease' MONDO_0005559 owl:Class GO:0042165 biolink:NamedThing neurotransmitter binding Binding to a neurotransmitter, any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005488 biolink:NamedThing binding The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. tmpaxzxjjyw_mondo_relaxed.owl ligand owl:Class GO:0032055 biolink:NamedThing negative regulation of translation in response to stress Any process that stops, prevents or reduces the rate of translation as a result of a stimulus indicating the organism is under stress. tmpaxzxjjyw_mondo_relaxed.owl downregulation of translation in response to stress|down-regulation of translation in response to stress|inhibition of translation in response to stress|down regulation of translation in response to stress owl:Class GO:0017148 biolink:NamedThing negative regulation of translation Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of protein biosynthetic process|negative regulation of protein biosynthesis|negative regulation of protein anabolism|down regulation of protein biosynthetic process|down-regulation of protein biosynthetic process|negative regulation of protein formation|downregulation of protein biosynthetic process|inhibition of protein biosynthetic process|negative regulation of protein synthesis|protein biosynthetic process inhibitor activity|protein biosynthesis inhibitor activity owl:Class MONDO:0042966 biolink:NamedThing inherited mitral valve disease An instance of mitral valve disease that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary mitral valve disease|congenital malformation of mitral valve|congenital mitral valve abnormality|congenital anomaly of mitral valve SCTID:75372006 owl:Class MONDO:0003767 biolink:NamedThing mitral valve disorder A disease involving the mitral valve. tmpaxzxjjyw_mondo_relaxed.owl rheumatic mitral valve changes|rheumatic mitral insufficiency|disease or disorder of mitral valve|mitral valve disease|rheumatic mitral valve incompetence|rheumatic mitral valve regurgitation|mitral valve disorder|mitral RH valve dis.|chronic rheumatic mitral valve|disease of mitral valve|disorder of mitral valve|mitral valve disease or disorder|rheumatic disease of mitral valve NCIT:C78446|ICD10:I05|ICD10:I05.9|ICD9:394.9|SCTID:11851006|SCTID:83898004|ICD9:394|DOID:61|UMLS:C0026265|ICD10:I05.1|ICD9:394.1|UMLS:C0264765|UMLS:C2939153|ICD9:424.0 owl:Class MONDO:0014687 biolink:NamedThing retinitis pigmentosa 73 Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa caused by mutation in HGSNAT|HGSNAT retinitis pigmentosa|retinitis pigmentosa type 73|retinitis pigmentosa 73|RP73 OMIM:616544|ICD10:H35.5|DOID:0110389|UMLS:C4225287 owl:Class MONDO:0016505 biolink:NamedThing aldosterone-producing adrenal cortex adenoma An adenoma of the adrenal cortex that produces aldosterone. It may be associated with Conn syndrome. Clinical presentation includes hypertension, hypokalemia, and muscle weakness. tmpaxzxjjyw_mondo_relaxed.owl Pure aldosterone-producing adrenocortical carcinoma|Pure aldosterone-secreting adrenocortical carcinoma|APAC|Pure APAC|aldosterone producing adrenal cortex adenoma|aldosterone-producing adrenal cortex adenoma|aldosterone producing adrenal cortical adenoma|adrenocortical carcinoma with pure aldosterone hypersecretion EFO:1000015|MESH:D018246|ICD10:C74.0|Orphanet:231625|NCIT:C48451|UMLS:CN226945|ICD10:E26.0|UMLS:C1706762|MedDRA:10056950 MONDO:0006023 owl:Class MONDO:0008693 biolink:NamedThing ablepharon macrostomia syndrome Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome. tmpaxzxjjyw_mondo_relaxed.owl ablepharon-macrostomia syndrome|congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies|AMS OMIM:200110|UMLS:C1860224|ICD10:Q87.0|SCTID:718575002|GARD:0000003|Orphanet:920|DOID:0060550|MESH:C535557 owl:Class MONDO:0018537 biolink:NamedThing squamous cell carcinoma of gallbladder and extrahepatic biliary tract Squamous cell carcinoma of the gallbladder and extrahepatic biliary tract is a rare hepatic and biliary tract tumor, arising either in the gallbladder itself or in the epithelium lining the extrahepatic biliary tree, the cystic duct and peribiliary glands. It is characterized by a substantial keratinization with abundant keratohyalin pearls and central deposition of dense keratin material within infiltrative nests and locally aggressive nature. In the early stages of the disease symptoms are vague and nonspecific (abdominal pain, jaundice and vomiting). In the advanced stages it may present with a bulky tumor and symptoms of adjacent organ involvement. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of gallblader and EBT ICD10:C24.1|ICD10:C24.9|ICD10:C24.8|ICD10:C24.0|SCTID:766978002|ICD10:C23|UMLS:CN237538|Orphanet:424996 owl:Class MONDO:0007515 biolink:NamedThing ectopia pupillae tmpaxzxjjyw_mondo_relaxed.owl ectopia pupillae|ectopia pupillae (disease)|familial ectopic pupil|congenital eye malformation in which the pupils are displaced from their normal central position ectopia pupillae (disease) HP:0009918|SCTID:193523008|OMIM:129750|MESH:C536185|GARD:0008490 owl:Class MONDO:0043775 biolink:NamedThing respiratory paralysis Complete or severe weakness of the muscles of respiration. This condition may be associated with motor neuron diseases; peripheral nerve diseases; neuromuscular junction diseases; spinal cord diseases; injury to the phrenic nerve; and other disorders. tmpaxzxjjyw_mondo_relaxed.owl diaphragmatic paralysis|paralysis, respiratory muscle|paralysis, diaphragmatic|respiratory muscle paralysis|muscle paralyses, respiratory|paralysis of diaphragm|paralysis, respiratory|muscle paralysis, respiratory MESH:D012133|SCTID:64228003 owl:Class MONDO:0005728 biolink:NamedThing diaphragm disorder A disease involving the diaphragm. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of diaphragm|disease of diaphragm|diaphragm disease or disorder|diaphragmatic disorder|disorder of diaphragm|diaphragmatic disease|diaphragm disease UMLS:C0152097|ICD10:J98.6|ICD9:519.4|EFO:0007233|DOID:10481|SCTID:48475001 owl:Class MONDO:0005758 biolink:NamedThing eunuchism The state of being a eunuch, a male without testes or whose testes failed to develop. It is characterized by the lack of mature male germ cells and testicular hormones. tmpaxzxjjyw_mondo_relaxed.owl Male hypergonadotropic hypogonadism|Primary testicular failure|hypergonadotropic hypogonadism (Male) EFO:0007266|DOID:5003|SCTID:267403002|NCIT:C131195|MESH:D005058|UMLS:C0238117|ICD9:257.2 owl:Class MONDO:0009909 biolink:NamedThing progesterone resistance tmpaxzxjjyw_mondo_relaxed.owl pseudocorpus luteum insufficiency|progesterone resistance OMIM:264080|UMLS:C1849699|MESH:C564871 owl:Class MONDO:0003957 biolink:NamedThing adult pineoblastoma A pineoblastoma occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl adult pineoblastoma|pineoblastoma of adults|pineoblastoma NCIT:C8292|DOID:6648|UMLS:C0281332 owl:Class MONDO:0003248 biolink:NamedThing adult pineal parenchymal tumor A pineal parenchymal cell neoplasm (pineocytoma or pineoblastoma) occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl parenchymal neoplasm of the adult pineal gland|parenchymal neoplasm of adult pineal gland|adult pineal parenchymal cell neoplasm|pineal parenchymal cell neoplasm of adults|adult pineal gland tumor|adult pineal parenchymal neoplasm|adult pineal parenchymal cell tumor|adult pineal gland neoplasm|parenchymal tumor of adult pineal gland|adult pineal parenchymal tumor|pineal parenchymal cell tumor|parenchymal tumor of the adult pineal gland DOID:5031|NCIT:C8273|UMLS:C0280794 owl:Class MONDO:0013621 biolink:NamedThing LAMB2-related infantile-onset nephrotic syndrome LAMB2-related infantile-onset nephrotic syndrome is a rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. tmpaxzxjjyw_mondo_relaxed.owl nephrotic syndrome, type 5, with or without ocular abnormalities|NPHS5 UMLS:C3280113|Orphanet:306507|OMIM:614199|ICD10:N04.8 owl:Class MONDO:0015163 biolink:NamedThing primary glomerular disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197503|Orphanet:102373 owl:Class MONDO:0010543 biolink:NamedThing Barth syndrome Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria. tmpaxzxjjyw_mondo_relaxed.owl cardioskeletal myopathy-neutropenia syndrome|X-linked cardioskeletal myopathy and neutropenia|3-Methylglutaconicaciduria type 2|cardioskeletal myopathy with neutropenia and abnormal mitochondria|BTHS|MGA type 2|Barth syndrome|3-methylglutaconic aciduria type 2|3-Methylglutaconic aciduria, type 2|3-Methylglutaconicaciduria type II|TAZ defect|BARTH syndrome|MGA2|MGA type II|3-methylglutaconic aciduria type II|Mga, type 2 GARD:0005890|MESH:D056889|DOID:0050476|NCIT:C84585|UMLS:C0574083|ICD10:E78.71|ICD10:E71.1|SCTID:297231002|OMIM:302060|Orphanet:111 https://rarediseases.info.nih.gov/diseases/5890/barth-syndrome owl:Class MONDO:0015134 biolink:NamedThing constitutional neutropenia A rare disorder characterized by recurrent infantile infections and absence of neutrophils in the peripheral blood. tmpaxzxjjyw_mondo_relaxed.owl Kostmann neutropenia|Kostmann disease|Kostmann syndrome|congenital neutropenia|infantile genetic agranulocytosis|genetic infantile agranulocytosis Orphanet:101987|ICD10:D70|NCIT:C61242 owl:Class UBERON:0019261 biolink:NamedThing white matter of forebrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000933 biolink:NamedThing pharyngeal muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009974 biolink:NamedThing lumen of Rathke's pouch tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005082 biolink:NamedThing tube lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013057 biolink:NamedThing psoriasis 12, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl PSORS12|psoriasis 12, susceptibility to DOID:0111291|OMIM:612950 owl:Class UBERON:0003854 biolink:NamedThing spinal cord neural plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003075 biolink:NamedThing neural plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015986 biolink:NamedThing bilateral renal agenesis Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth. tmpaxzxjjyw_mondo_relaxed.owl bilateral renal aplasia|renal agenesis, bilateral ICD10:Q60.1|DOID:0080200|NCIT:C101219|Orphanet:1848 owl:Class MONDO:0018470 biolink:NamedThing renal agenesis Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively), accompanied by absent ureter(s). tmpaxzxjjyw_mondo_relaxed.owl absent/small kidney|hereditary renal aplasia|renal agenesis (disease)|renal agenesis/hypoplasia|hereditary urogenital adysplasia|renal adysplasia|renal aplasia|renal hypodysplasia/aplasia|renal agenesis|absent/underdeveloped kidney renal agenesis (disease) DOID:14766|OMIMPS:191830|ICD10:Q60.0|ICD10:Q60.1|ICD10:Q60.2|HP:0008678|OMIM:191830|HP:0000104|Orphanet:411709|GARD:0009228|NCIT:C99041|SCTID:204942005|OMIM:615721 owl:Class MONDO:0005606 biolink:NamedThing tubular adenocarcinoma An infiltrating adenocarcinoma in which the malignant cells form tubular structures. Representative examples include the tubular breast carcinoma and the gastric tubular adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl tubular adenocarcinoma (morphologic abnormality)|carcinoma, tubular cell, malignant|tubular carcinoma|tubular adenocarcinoma EFO:0006500|NCIT:C65192|DOID:4929|MESH:D000230|UMLS:C0205645|ICDO:8211/3 owl:Class UBERON:0001950 biolink:NamedThing neocortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002616 biolink:NamedThing regional part of brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014277 biolink:NamedThing developmental dysplasia of the hip 2 tmpaxzxjjyw_mondo_relaxed.owl developmental dysplasia of the hip 2|DDH2 UMLS:C3715079|OMIM:615612 owl:Class MONDO:0016304 biolink:NamedThing classic pantothenate kinase-associated neurodegeneration tmpaxzxjjyw_mondo_relaxed.owl neurodegeneration with brain iron accumulation type 1, classic form|PKAN, classic form|NBIA1, classic form Orphanet:216866|ICD10:G23.0|UMLS:CN201109 owl:Class GO:0007492 biolink:NamedThing endoderm development The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009888 biolink:NamedThing tissue development The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. tmpaxzxjjyw_mondo_relaxed.owl histogenesis|histogenesis and organogenesis owl:Class MONDO:0100416 biolink:NamedThing acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation Any acute myeloid leukemia that has the chromosomal anomaly FLT3 tyrosine kinase domain point mutation. (Single nucleotide mutations in the tyrosine kinase domain encoded by the human FLT3 gene that are associated with acute myeloid leukemia and poor prognosis.) tmpaxzxjjyw_mondo_relaxed.owl AML, FLT3/TKD Point Mutation|AML, FLT3 tyrosine kinase domain point mutation|AML, FLT3-TKD Point Mutation NCIT:C67495 owl:Class MONDO:0002234 biolink:NamedThing vaginitis A non-infectious or infectious inflammatory process affecting the vagina. tmpaxzxjjyw_mondo_relaxed.owl vaginitis|vagina inflammation|inflammation of vagina|vaginitis (disease)|vaginal inflammation|vaginal Inflammation vaginitis (disease) NCIT:C26911|ICD9:616.10|UMLS:C0042267|ICD9:616.1|HP:0030683|DOID:2170|EFO:0005757|MESH:D014627|SCTID:30800001 owl:Class MONDO:0002660 biolink:NamedThing blepharochalasis An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. tmpaxzxjjyw_mondo_relaxed.owl blepharochalasis (disease)|blepharochalasis blepharochalasis (disease) UMLS:C0005742|SCTID:47704002|ICD9:374.34|DOID:348|ICD10:H02.3|HP:0010749 owl:Class MONDO:0024648 biolink:NamedThing optic tract meningioma A meningioma that affects the visual pathway. tmpaxzxjjyw_mondo_relaxed.owl meningioma of optic tract|meningioma of the visual pathway|meningioma (disease) of optic tract|meningioma of the optic tract|meningioma of visual pathway|visual pathway meningioma|optic tract meningioma (disease)|optic tract meningioma NCIT:C5587|UMLS:C1336972 owl:Class MONDO:0000642 biolink:NamedThing brain meningioma A meningioma (disease) that involves the brain. tmpaxzxjjyw_mondo_relaxed.owl brain meningioma (disease)|meningioma (disease) of brain DOID:0060106 Editor note: TODO check owl:Class MONDO:0017386 biolink:NamedThing pleomorphic rhabdomyosarcoma An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities. tmpaxzxjjyw_mondo_relaxed.owl anaplastic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma, adult type ICD9:171.9|NCIT:C4258|DOID:3250|ICD10:C49.9|SCTID:404054005|ONCOTREE:PLRMS|Orphanet:293199|UMLS:C0334480 owl:Class MONDO:0005212 biolink:NamedThing rhabdomyosarcoma A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomical sites. tmpaxzxjjyw_mondo_relaxed.owl rhabdomyosarcoma|rhabdomyosarcoma, malignant|rhabdomyosarcoma (disease) rhabdomyosarcoma (disease) ICD10:C49.9|UMLS:C0035412|DOID:3247|ONCOTREE:RMS|MedDRA:10039022|OMIM:268220|ICDO:8900/3|EFO:0002918|ICD9:171.9|NCIT:C3359|MESH:D012208|SCTID:302847003|OMIM:268210|Orphanet:780|HP:0002859 owl:Class GO:0051983 biolink:NamedThing regulation of chromosome segregation Any process that modulates the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050794 biolink:NamedThing regulation of cellular process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular physiological process owl:Class MONDO:0100189 biolink:NamedThing apolipoprotein A-I deficiency A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD). tmpaxzxjjyw_mondo_relaxed.owl familial apoA-I deficiency|familial hypoalphalipoproteinemia|ApoA-I deficiency Orphanet:425 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:644 biolink:NamedThing AR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008705 biolink:NamedThing lysosomal acid phosphatase deficiency tmpaxzxjjyw_mondo_relaxed.owl acid phosphatase deficiency|lysosomal acid phosphatase deficiency ICD10:E83.3|SCTID:57863006|UMLS:C0268410|Orphanet:35121|ICD9:277.6|MESH:C562645|OMIM:200950 owl:Class MONDO:0002561 biolink:NamedThing lysosomal storage disease A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. tmpaxzxjjyw_mondo_relaxed.owl lysosome disorder|phospholipidosis|disorder of lysosomal enzyme|lysosomal disorder|lysosomal storage metabolism disorder|lysosomal storage disorder|disorder of lysosomal enzymes|lysosome disease|lysosomal disease|inborn lysosomal enzyme disorder DOID:3211|UMLS:CN205533|UMLS:C0085078|SCTID:23585005|Orphanet:68366|MESH:D016464|NCIT:C61250 owl:Class MONDO:0019136 biolink:NamedThing Zygomycosis Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue. tmpaxzxjjyw_mondo_relaxed.owl Zygomycota infectious disease|mucormycosis MESH:D009091|UMLS:C0043541|SCTID:76627001|MedDRA:10061418|ICD10:B46.9|ICD10:B46.5|ICD10:B46.2|DOID:8485|GARD:0010224|MedDRA:10028098|ICD10:B46.4|ICD9:117.7|NCIT:C77212|SCTID:59277005|ICD10:B46.3|Orphanet:73263|ICD10:B46.1|ICD10:B46.8|MESH:D020096|ICD10:B46|EFO:0007380|ICD10:B46.0 MONDO:0005860 https://rarediseases.info.nih.gov/diseases/10224/zygomycosis owl:Class HGNC:14201 biolink:NamedThing JPH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903020 biolink:NamedThing positive regulation of glycoprotein metabolic process Any process that activates or increases the frequency, rate or extent of glycoprotein metabolic process. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of glycoprotein metabolic process|activation of glycoprotein metabolism|upregulation of glycoprotein metabolic process|up regulation of glycoprotein metabolic process|positive regulation of glycoprotein metabolism|upregulation of glycoprotein metabolism|activation of glycoprotein metabolic process|up regulation of glycoprotein metabolism|up-regulation of glycoprotein metabolism owl:Class GO:1903018 biolink:NamedThing regulation of glycoprotein metabolic process Any process that modulates the frequency, rate or extent of glycoprotein metabolic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of glycoprotein metabolism owl:Class MONDO:0013870 biolink:NamedThing TMEM165-CDG TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12). tmpaxzxjjyw_mondo_relaxed.owl carbohydrate deficient glycoprotein syndrome type IIk|CDG2K|congenital disorder of glycosylation type 2k|congenital disorder of glycosylation type IIk|CDG syndrome type IIk|CDG IIk|congenital disorder of glycosylation, type IIk|CDG-IIk|TMEM165-CDG (CDG-IIk) GARD:0012413|Orphanet:314667|ICD10:E77.8|OMIM:614727|UMLS:C3553571|DOID:0070263|SCTID:732252005 owl:Class NCBITaxon:160 biolink:NamedThing Treponema pallidum tmpaxzxjjyw_mondo_relaxed.owl Spirillum pallidum|Spirochaeta pallida|Microspironema pallidum|Spironema pallidum GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:157 biolink:NamedThing Treponema tmpaxzxjjyw_mondo_relaxed.owl "Spironema" Vuillemin 1905|Microspironema PMID:23961314|PMID:9734025|GC_ID:11|PMID:9019153 ncbi_taxonomy owl:Class MONDO:0019672 biolink:NamedThing fibular hemimelia Fibular hemimelia is a congenital longitudinal limb deficiency characterized by complete or partial absence of the fibula bone. tmpaxzxjjyw_mondo_relaxed.owl congenital longitudinal deficiency of the fibula|fibular longitudinal meromelia ICD10:Q72.6|Orphanet:93323 owl:Class MONDO:0016240 biolink:NamedThing hemimelia Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia. Hemimelia ranges in severity. tmpaxzxjjyw_mondo_relaxed.owl longitudinal meromelia ICD10:Q71.8|SCTID:33076008|MedDRA:10019464|UMLS:C0018987|NCIT:C34674|ICD10:Q73.8|Orphanet:2130|ICD10:Q72.8 owl:Class UBERON:0005477 biolink:NamedThing stomach fundus epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000485 biolink:NamedThing simple columnar epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012802 biolink:NamedThing oculoauricular syndrome Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia). tmpaxzxjjyw_mondo_relaxed.owl microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, Rod-cone dystrophy, and anomalies of the external Ear|OCACS|oculoauricular syndrome, Schorderet type|Schorderet-Munier-Franceschetti syndrome|oculoauricular syndrome DOID:0060482|UMLS:C2677500|Orphanet:157962|ICD10:Q87.8|MESH:C567416|OMIM:612109 owl:Class CHEBI:22314 biolink:NamedThing alkali metal atom tmpaxzxjjyw_mondo_relaxed.owl metal alcalin|alkali metals|alkali metal|metal alcalino|metaux alcalins|Alkalimetalle|metales alcalinos|Alkalimetall owl:Class CHEBI:33521 biolink:NamedThing metal atom An atom of an element that exhibits typical metallic properties, being typically shiny, with high electrical and thermal conductivity. tmpaxzxjjyw_mondo_relaxed.owl elemental metal|elemental metals|metals|metal elements|metal element owl:Class MONDO:0010503 biolink:NamedThing Bartter disease type 5 Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene. tmpaxzxjjyw_mondo_relaxed.owl BARTS5|Bartter syndrome, type 5, antenatal, transient|Bartter syndrome caused by mutation in MAGED2|MAGED2 Bartter syndrome ICD10:E26.8|OMIM:300971|DOID:0110147|UMLS:C4310820 owl:Class MONDO:0007077 biolink:NamedThing Tietz syndrome Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair. tmpaxzxjjyw_mondo_relaxed.owl hypopigmentation/deafness of Tietz|TADS|albinism-deafness of Tietz|Tietz albinism-deafness syndrome|Tietz syndrome|hypopigmentation-deafness syndrome UMLS:C0391816|GARD:0007772|SCTID:403805009|MESH:C536919|DOID:0090002|OMIM:103500|ICD9:270.2|Orphanet:42665 Editor note: consider classification under albinism https://rarediseases.info.nih.gov/diseases/7772/tietz-syndrome owl:Class MONDO:0012055 biolink:NamedThing Larsen-like osseous dysplasia-short stature syndrome Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia. tmpaxzxjjyw_mondo_relaxed.owl Larsen-like syndrome|Lrsl UMLS:C1837884|MESH:C563914|ICD10:Q74.8|Orphanet:2370|OMIM:608545 owl:Class MONDO:0018230 biolink:NamedThing primary bone dysplasia tmpaxzxjjyw_mondo_relaxed.owl primary skeletal dysplasia|primary osteodysplasia Orphanet:364526 Editor note: ORDO has these as genetic, but some forms may not be genetic - check this owl:Class HGNC:7010 biolink:NamedThing MEN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008333 biolink:NamedThing pseudoxanthoma elasticum, forme fruste An autosomal dominant form of PXE. tmpaxzxjjyw_mondo_relaxed.owl pseudoxanthoma elasticum, heterozygous|pseudoxanthoma elasticum, forme fruste Orphanet:758|OMIM:177850|GARD:0010104 https://rarediseases.info.nih.gov/diseases/10104/pseudoxanthoma-elasticum-forme-fruste owl:Class MONDO:0100091 biolink:NamedThing inherited pseudoxanthoma elasticum An inheritable form of pseudoxanthoma elasticum (PXE), that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. PXE may cause the following symptoms: growth of yellowish bumps on the skin of the neck, under the arms, or in the groin area; reduced vision; periodic weakness in the legs (claudication); or bleeding in the gastrointestinal tract, particularly the stomach. A clinical diagnosis of PXE can be made when an individual is found to have both the characteristic eye findings and yellow bumps on the skin. ABCC6 is the only gene known to be associated with this condition. Currently, there is no treatment for this condition, but affected individuals may benefit from routine visits to an eye doctor who specializes in retinal disorders, and by having regular physical examinationswith their primary physician. tmpaxzxjjyw_mondo_relaxed.owl inherited Gronblad Strandberg syndrome|inherited PXE GARD:0009643 Pathophysiology: In PXE, there is mineralization (accumulation of calcium and other minerals) and fragmentation of the elastin-containing fibers in connective tissue, but primarily in the midlaminar layer of the dermis, Bruch's membrane and the midsized arteries.[12] Recent studies hypothesize that PXE is a metabolic disease, and that its features arise because metabolites of vitamin K cannot reach peripheral tissues https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum owl:Class MONDO:0004969 biolink:NamedThing acute quadriplegic myopathy Acute quadriplegic myopathy (AQM) is a specific acquired myopathy in ICU patients. Patients with AQM are characterized by severe muscle weakness and atrophy of spinal nerve innervated limb and trunk muscles, while cranial nerve innervated craniofacial muscles, sensory and cognitive functions are spared or less affected. The muscle weakness is associated with altered muscle membrane properties and a preferential loss of the motor protein myosin and myosin-associated thick filament proteins. Prolonged mechanical ventilation, muscle unloading, postsynaptic block of neuromuscular transmission, sepsis and systemic corticosteroid hormone treatment have been suggested as important triggering factors in AQM. tmpaxzxjjyw_mondo_relaxed.owl EFO:0000225 owl:Class MONDO:0005336 biolink:NamedThing myopathy A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. tmpaxzxjjyw_mondo_relaxed.owl DOID:423|ICD9:359.8|OMIM:181430|NCIT:C101216|SCTID:129565002|ICD10:G72.9|ICD9:359.9|ICD10:M62.9|UMLS:C0026848|EFO:0004145|ICD10:M60-M63|MESH:D009135|OMIM:300695|ICD9:728.3 Editor note: TODO check this, relationship to myotonic disorder/syndrome, also check HP definition owl:Class NCBITaxon:11082 biolink:NamedThing West Nile virus tmpaxzxjjyw_mondo_relaxed.owl WNV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11051 biolink:NamedThing Flavivirus tmpaxzxjjyw_mondo_relaxed.owl arboviruses group B GC_ID:1 ncbi_taxonomy owl:Class GO:0034650 biolink:NamedThing cortisol metabolic process The chemical reactions and pathways involving cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. tmpaxzxjjyw_mondo_relaxed.owl cortisol metabolism owl:Class GO:0120254 biolink:NamedThing olefinic compound metabolic process The chemical reactions and pathways involving an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C). tmpaxzxjjyw_mondo_relaxed.owl alkene substituted compound metabolism|alkene substituted compound metabolic process owl:Class MONDO:0020687 biolink:NamedThing supratentorial ependymal tumor An ependymal tumor arising from the supratentorial region of the brain. tmpaxzxjjyw_mondo_relaxed.owl supratentorial ependymal tumor NCIT:C131611 owl:Class MONDO:0004245 biolink:NamedThing ependymal tumor of brain A tumor arising from the ependymal lining of the ventricles. tmpaxzxjjyw_mondo_relaxed.owl ependymoma of brain|ependymal tumor of brain|brain ependymal tumor|brain ependymoma NCIT:C3861|UMLS:C0238029|DOID:7497|SCTID:254939008 owl:Class GO:1903552 biolink:NamedThing negative regulation of extracellular exosome assembly Any process that stops, prevents or reduces the frequency, rate or extent of extracellular vesicular exosome assembly. tmpaxzxjjyw_mondo_relaxed.owl down regulation of extracellular vesicular exosome assembly|inhibition of extracellular vesicular exosome assembly|negative regulation of extracellular vesicular exosome assembly|downregulation of extracellular vesicular exosome assembly|down-regulation of extracellular vesicular exosome assembly owl:Class GO:1903551 biolink:NamedThing regulation of extracellular exosome assembly Any process that modulates the frequency, rate or extent of extracellular vesicular exosome assembly. tmpaxzxjjyw_mondo_relaxed.owl regulation of extracellular vesicular exosome assembly owl:Class UBERON:0035091 biolink:NamedThing extrinsic post-anal tail muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003665 biolink:NamedThing post-anal tail muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016573 biolink:NamedThing acute fatty liver of pregnancy Acute fatty liver of pregnancy is a rare but severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. tmpaxzxjjyw_mondo_relaxed.owl AFLP|acute fatty liver, gestational SCTID:716379000|MedDRA:10000746|GARD:0009578|UMLS:C1455728|ICD10:O26.6|MESH:C537957|Orphanet:243367 https://rarediseases.info.nih.gov/diseases/9578/acute-fatty-liver-of-pregnancy owl:Class MONDO:0001699 biolink:NamedThing tinea manuum A dermatophytosis that involves the hands. tmpaxzxjjyw_mondo_relaxed.owl dermatophytosis of manus|dermatophytosis of hand|manus dermatophytosis|Tinea manus SCTID:48971001|DOID:13369|ICD9:110.2|UMLS:C0153246|ICD10:B35.2 owl:Class MONDO:0044990 biolink:NamedThing hand disorder A disease or disorder that involves the manus. tmpaxzxjjyw_mondo_relaxed.owl disorder of hand|disease or disorder of manus|manus disease or disorder|disease of manus|disorder of manus|hand disease|manus disease SCTID:118933004|UMLS:C1290871 owl:Class GO:0033240 biolink:NamedThing positive regulation of cellular amine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amines. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of amine metabolism owl:Class GO:0033238 biolink:NamedThing regulation of cellular amine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform amines. tmpaxzxjjyw_mondo_relaxed.owl regulation of amine metabolism owl:Class MONDO:0012329 biolink:NamedThing short stature and Facioauriculothoracic malformations tmpaxzxjjyw_mondo_relaxed.owl short stature and Facioauriculothoracic malformations UMLS:C1864791|OMIM:609654|MESH:C566457 owl:Class MONDO:0025986 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:249210 owl:Class UBERON:0004736 biolink:NamedThing metanephric glomerulus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000074 biolink:NamedThing renal glomerulus tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:24675 biolink:NamedThing hydroxybenzoate Any benzoate derivative carrying a single carboxylate group and at least one hydroxy substituent. tmpaxzxjjyw_mondo_relaxed.owl hydroxybenzoates owl:Class CHEBI:22718 biolink:NamedThing benzoates A monocarboxylic acid anion obtained by deprotonation of the carboxy group of any benzoic acid. tmpaxzxjjyw_mondo_relaxed.owl benzoate anion owl:Class MONDO:0008599 biolink:NamedThing trigeminal neuralgia Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches. tmpaxzxjjyw_mondo_relaxed.owl trigeminal neuralgia|trigeminal nerve neuralgia|trifocal neuralgia|Tic douloureux|neuralgia of trigeminal nerve|trifacial neuralgia MedDRA:10044652|Orphanet:221091|ICD9:350.1|UMLS:C0040997|EFO:1001219|DOID:12098|ICD10:G50.0|MESH:D014277|SCTID:31681005|OMIM:190400|GARD:0007805 https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia owl:Class HGNC:18248 biolink:NamedThing ELP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901862 biolink:NamedThing negative regulation of muscle tissue development Any process that stops, prevents or reduces the frequency, rate or extent of muscle tissue development. tmpaxzxjjyw_mondo_relaxed.owl inhibition of muscle tissue development|down-regulation of muscle tissue development|down regulation of muscle tissue development|downregulation of muscle tissue development owl:Class GO:0051093 biolink:NamedThing negative regulation of developmental process Any process that stops, prevents or reduces the rate or extent of development, the biological process whose specific outcome is the progression of an organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpaxzxjjyw_mondo_relaxed.owl down-regulation of developmental process|downregulation of developmental process|down regulation of developmental process|inhibition of developmental process owl:Class UBERON:0003433 biolink:NamedThing arm nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003441 biolink:NamedThing forelimb nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045905 biolink:NamedThing positive regulation of translational termination Any process that activates or increases the frequency, rate or extent of translational termination. tmpaxzxjjyw_mondo_relaxed.owl up regulation of translational termination|activation of translational termination|stimulation of translational termination|upregulation of translational termination|up-regulation of translational termination owl:Class GO:0043243 biolink:NamedThing positive regulation of protein-containing complex disassembly Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of protein complex disassembly|stimulation of protein complex disassembly|up-regulation of protein complex disassembly|up regulation of protein complex disassembly|activation of protein complex disassembly|upregulation of protein complex disassembly owl:Class GO:0019212 biolink:NamedThing phosphatase inhibitor activity Binds to and stops, prevents or reduces the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7316 biolink:NamedThing MS4A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002492 biolink:NamedThing acute kidney failure Sudden and sustained deterioration of the kidney function characterized by decreased glomerular filtration rate, increased serum creatinine or oliguria. tmpaxzxjjyw_mondo_relaxed.owl acute renal failure|kidney failure, acute|AKI|ARF|acute kidney injury ICD10:N17|MESH:D058186|DOID:3021|NCIT:C26808 owl:Class MONDO:0000544 biolink:NamedThing mucosal melanoma A melanoma that arises from a mucosal site. tmpaxzxjjyw_mondo_relaxed.owl mucosal melanoma UMLS:C3898222|NCIT:C114828|DOID:0050929 owl:Class MONDO:0006320 biolink:NamedThing non-cutaneous melanoma Melanoma is a malignant tumor of melanocytes, cells that are derived from the neural crest. Although most melanomas arise in the skin, they also may arise from mucosal surfaces or at other sites to which neural crest cells migrate. (PDQ) tmpaxzxjjyw_mondo_relaxed.owl non-cutaneous melanoma|extracutaneous melanoma UMLS:C1334974|NCIT:C8711|EFO:1000397 owl:Class MONDO:0020635 biolink:NamedThing anaplastic meningioma A WHO grade III meningioma characterized by the presence of malignant morphologic features, including malignant cytology and a very high mitotic index (20 or more mitoses per ten high power fields). tmpaxzxjjyw_mondo_relaxed.owl anaplastic (malignant) meningioma|meningioma, malignant|meningioma, anaplastic, malignant|anaplastic meningioma|malignant meningioma NCIT:C4051|ONCOTREE:ANM|ICDO:9530/3 owl:Class MONDO:0020634 biolink:NamedThing grade III meningioma A malignant meningioma with aggressive clinical course. It recurs in approximately 50-78% of the cases. This category includes the anaplastic (malignant) meningioma, papillary meningioma, and rhabdoid meningioma. tmpaxzxjjyw_mondo_relaxed.owl meningioma, malignant|grade 3 meningioma|grade III meningioma|WHO grade III meningioma NCIT:C38938 owl:Class MONDO:0006220 biolink:NamedThing gallbladder squamous cell carcinoma A carcinoma that arises from the gallbladder. It is composed entirely by malignant squamous epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of the gallbladder|squamous cell gallbladder carcinoma|gallbladder squamous cell cancer|gall bladder squamous cell carcinoma|gallbladder squamous cell carcinoma|epidermoid carcinoma of gallbladder|epidermoid gallbladder carcinoma|squamous cell carcinoma of gallbladder|epidermoid carcinoma of the gallbladder EFO:1000267|UMLS:C0279658|DOID:5535|NCIT:C9170 owl:Class MONDO:0003220 biolink:NamedThing gallbladder carcinoma A carcinoma that arises from epithelial cells of the gall bladder tmpaxzxjjyw_mondo_relaxed.owl cancer of gallbladder|gall bladder carcinoma|gallbladder cancer|carcinoma of the gallbladder|gallbladder carcinoma|carcinoma of gall bladder|Gall bladder carcinoma (adeno)|cancer of the gallbladder|Gall bladder carcinoma (adenocarcinoma)|carcinoma of gallbladder|carcinoma gallbladder NCIT:C3844|UMLS:C0235782|DOID:4948|EFO:1001956|SCTID:372140005 owl:Class MONDO:0010406 biolink:NamedThing chromosome Xp11.22 duplication syndrome tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked 31|intellectual disability, X-linked 17|intellectual disability, X-linked 31|mental retardation, X-linked 17|chromosome Xp11.22 duplication syndrome OMIM:300705|Orphanet:777 owl:Class NCIT:C25444 biolink:NamedThing Body Cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C12219 biolink:NamedThing Anatomic Structure, System, or Substance tmpaxzxjjyw_mondo_relaxed.owl Anatomic Structure, System, or Substance owl:Class MONDO:0013801 biolink:NamedThing developmental and epileptic encephalopathy, 13 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene. tmpaxzxjjyw_mondo_relaxed.owl DEE13|SCN8A encephalopathy|epileptic encephalopathy, early infantile, 13|early infantile epileptic encephalopathy caused by mutation in SCN8A|early infantile epileptic encephalopathy-13|EIEE13|SCN8A early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 13|SCN8A epilepsy GARD:0013085|SCTID:765170001|UMLS:C3281191|DOID:0080445|OMIM:614558 owl:Class MONDO:0021258 biolink:NamedThing choroid neoplasm A neoplasm (disease) that involves the optic choroid. tmpaxzxjjyw_mondo_relaxed.owl choroidal neoplasm|neoplasm of choroid|tumor of the choroid|neoplasm of optic choroid|optic choroid neoplasm (disease)|neoplasm of the choroid|choroid tumor|optic choroid tumor|choroidal tumor|optic choroid neoplasm|tumor of optic choroid|tumor of choroid NCIT:C2949 owl:Class UBERON:0005255 biolink:NamedThing pedal digit mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003104 biolink:NamedThing mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013226 biolink:NamedThing combined immunodeficiency with faciooculoskeletal anomalies Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). tmpaxzxjjyw_mondo_relaxed.owl ROIFMAN-Chitayat syndrome|Roifman-Chitayat syndrome|combined immunodeficiency, Facial Dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay Orphanet:221139|MESH:C567641|OMIM:613328|UMLS:C2750068|ICD10:Q87.8 owl:Class GO:0052803 biolink:NamedThing imidazole-containing compound metabolic process The chemical reactions and pathways involving imidazoles, five-membered organic heterocycle containing two nitrogen atoms at positions 1 and 3, or any of its derivatives; compounds containing an imidazole skeleton. tmpaxzxjjyw_mondo_relaxed.owl imidazole metabolism owl:Class GO:0006725 biolink:NamedThing cellular aromatic compound metabolic process The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl aromatic compound metabolism|aromatic hydrocarbon metabolic process|aromatic hydrocarbon metabolism owl:Class GO:0048583 biolink:NamedThing regulation of response to stimulus Any process that modulates the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050789 biolink:NamedThing regulation of biological process Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl regulation of physiological process owl:Class MONDO:0012249 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 2 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene. tmpaxzxjjyw_mondo_relaxed.owl familial non-polyposis colon cancer type 2|Hereditary nonpolyposis colorectal cancer type 2|Hereditary non-polyposis colon cancer type 2|HNPCC2|colon cancer, familial nonpolyposis, type 2|colorectal cancer, hereditary nonpolyposis, type 2|COCA2|Lynch 2 syndrome MESH:D055847|OMIM:609310|Orphanet:144|DOID:0070274 owl:Class MONDO:0018630 biolink:NamedThing hereditary nonpolyposis colon cancer Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age. tmpaxzxjjyw_mondo_relaxed.owl Hereditary nonpolyposis colorectal cancer (HNPCC)|familial nonpolyposis colorectal cancer|familial nonpolyposis colon cancer|hereditary nonpolyposis colon cancer|colorectal cancer, hereditary nonpolyposis|hereditary nonpolyposis colorectal cancer|HNPCC SCTID:315058005|UMLS:CN237674|NCIT:C120083|Orphanet:443909|OMIMPS:120435 https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc|https://github.com/monarch-initiative/mondo/issues/1673 owl:Class GO:0034767 biolink:NamedThing positive regulation of ion transmembrane transport Any process that activates or increases the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl up regulation of transmembrane ion transport|activation of transmembrane ion transport|stimulation of transmembrane ion transport|positive regulation of ion membrane transport|positive regulation of transmembrane ion transport|upregulation of transmembrane ion transport|up-regulation of transmembrane ion transport owl:Class GO:0034764 biolink:NamedThing positive regulation of transmembrane transport Any process that activates or increases the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl up regulation of transmembrane transport|stimulation of transmembrane transport|upregulation of transmembrane transport|positive regulation of membrane transport|activation of transmembrane transport|up-regulation of transmembrane transport owl:Class MONDO:0009459 biolink:NamedThing channelopathy-associated congenital insensitivity to pain, autosomal recessive A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343) tmpaxzxjjyw_mondo_relaxed.owl CIP|channelopathy-associated CIP|indifference to pain, congenital, autosomal recessive|HSAN2D, AR|HSAN2D|asymbolia for pain|neuropathy, hereditary sensory and autonomic, type 2D|insensitivity to pain, channelopathy-associated|congenital analgesia, autosomal recessive Orphanet:970|Orphanet:88642|ICD10:G60.8|MESH:D009477|UMLS:C1855739|OMIM:243000|GARD:0012267 owl:Class MONDO:0033199 biolink:NamedThing hearing loss, autosomal recessive 107 tmpaxzxjjyw_mondo_relaxed.owl DFNB107|autosomal recessive nonsyndromic deafness 107|deafness, autosomal recessive 107 Orphanet:90636|OMIM:617639|DOID:0080262 owl:Class GO:0032543 biolink:NamedThing mitochondrial translation The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial protein biosynthesis|mitochondrial protein formation|mitochondrial protein synthesis|mitochondrial protein translation|mitochondrial protein anabolism owl:Class GO:0006412 biolink:NamedThing translation The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. tmpaxzxjjyw_mondo_relaxed.owl protein anabolism|protein biosynthesis|protein synthesis|protein translation|protein biosynthetic process|protein formation owl:Class HGNC:6338 biolink:NamedThing KIR3DL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003666 biolink:NamedThing fallopian tube endometrioid adenocarcinoma An adenocarcinoma that arises from the fallopian tube and resembles the endometrioid adenocarcinoma of the uterus. It usually has a favorable prognosis. tmpaxzxjjyw_mondo_relaxed.owl endometrioid carcinoma of fallopian tube|endometrioid adenocarcinoma of fallopian tube|fallopian tube endometrioid cancer|fallopian tube endometrioid neoplasm|fallopian tube endometrioid carcinoma|fallopian tube endometrioid adenocarcinoma|endometrioid carcinoma of the fallopian tube|endometrioid adenocarcinoma of the fallopian tube DOID:5831|NCIT:C6279|UMLS:C1333592 owl:Class ENVO:01000313 biolink:NamedThing anthropogenic environment An anthropogenic environment is an environmental system which is the product of human activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000254 biolink:NamedThing environmental system A system which has the disposition to environ one or more material entities. tmpaxzxjjyw_mondo_relaxed.owl environment owl:Class MONDO:0009879 biolink:NamedThing short stature due to growth hormone qualitative anomaly Short stature due to growth hormone qualitative anomaly is characterised by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl pituitary dwarfism with normal immunoreactive Growth hormone and Low Somatomedin|Kowarski syndrome|Biodefective Growth hormone|KOWARSKI syndrome GARD:0000408|Orphanet:631|ICD10:E23.0|OMIM:262650|UMLS:C1849779|Orphanet:629|MESH:C537505 owl:Class MONDO:0013819 biolink:NamedThing intellectual disability, autosomal dominant 14 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene. tmpaxzxjjyw_mondo_relaxed.owl Coffin-Siris syndrome caused by mutation in ARID1A|COFFIN-SIRIS syndrome 2|Coffin-Siris syndrome 2|ARID1A-related BAFopathy|autosomal dominant intellectual disability 14|mental retardation, autosomal dominant 14|intellectual disability, autosomal dominant type 14|autosomal dominant mental retardation 14|ARID1A Coffin-Siris syndrome|CSS2|mental retardation, autosomal dominant type 14|intellectual disability, autosomal dominant 14|MRD14 DOID:0070044|UMLS:C3553247|OMIM:614607|Orphanet:1465 owl:Class MONDO:0015452 biolink:NamedThing Coffin-Siris syndrome Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations. tmpaxzxjjyw_mondo_relaxed.owl dwarfism-onychodysplasia|fifth digit syndrome|intellectual disability with absent fifth fingernail and terminal phalanx|Coffin-Siris syndrome|CSS|short stature-onychodysplasia. UMLS:C0265338|OMIM:616938|ICD9:759.89|OMIM:614609|GARD:0006124|NCIT:C35321|OMIM:615866|OMIM:135900|OMIM:614607|OMIM:614608|DOID:1925|SCTID:10007009|Orphanet:1465|MESH:C536436|ICD10:Q87.1|OMIMPS:135900 owl:Class UBERON:0001951 biolink:NamedThing epithelium of nasopharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004814 biolink:NamedThing upper respiratory tract epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019005 biolink:NamedThing nephronophthisis Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure. tmpaxzxjjyw_mondo_relaxed.owl medullary cystic disease|nephronophthisis|nephronophthisis (disease)|medullary cystic kidney nephronophthisis (disease) OMIM:613820|OMIMPS:256100|OMIM:606966|GARD:0000206|OMIM:602088|ICD10:Q61.5|OMIM:256100|UMLS:C0687120|HP:0000090|UMLS:C2939174|DOID:12712|OMIM:613159|NCIT:C123200|OMIM:613824|Orphanet:655|OMIM:615862|OMIM:611498|OMIM:614377|OMIM:604387|OMIM:615382 owl:Class MONDO:0015962 biolink:NamedThing inherited renal tubular disease tmpaxzxjjyw_mondo_relaxed.owl genetic renal tubular disease Orphanet:183592|UMLS:CN200561 owl:Class MONDO:0012266 biolink:NamedThing preeclampsia/eclampsia 4 Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene. tmpaxzxjjyw_mondo_relaxed.owl PREECLAMPSIA/eclampsia 4|preeclampsia caused by mutation in STOX1|STOX1 preeclampsia|PEE4|preeclampsia/eclampsia 4|Preeclampsia/eclampsia type 4 OMIM:609404|MESH:C563724|Orphanet:275555|UMLS:C1836255 owl:Class MONDO:0005081 biolink:NamedThing preeclampsia Preeclampsia is a hypertensive disorder of pregnancy that is characterized by new-onset hypertension with proteinuria presenting after 20 weeks of gestation, and depending on mild or severe forms may initially present with severe headache, visual disturbances, and hyperreflexia. tmpaxzxjjyw_mondo_relaxed.owl proteinuric hypertension of pregnancy|pregnancy associated hypertension|toxaemia of pregnancy|preeclampsia/eclampsia|preeclampsia|hypertension induced by pregnancy|pre-eclampsia|gestational hypertension|pregnancy toxemia|pre-eclamptic toxaemia ICD10:O14|OMIM:189800|OMIM:609404|ICD10:O14.90|MESH:D011225|ICD9:642.40|MedDRA:10036485|OMIM:614595|SCTID:398254007|ICD9:642.43|OMIMPS:189800|ICD10:O14.2|Orphanet:275555|ICD9:642.42|OMIM:609402|ICD9:642.44|NCIT:C85021|ICD10:O14.1|ICD10:O14.9|EFO:0000668|ICD10:O14.0|ICD9:642.41|OMIM:609403|DOID:10591 owl:Class HGNC:2187 biolink:NamedThing COL11A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005218 biolink:NamedThing muscular disorder Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle. tmpaxzxjjyw_mondo_relaxed.owl muscle organ disease|disorder of muscle organ|muscle organ disease or disorder|disease of muscle organ|disease or disorder of muscle organ DOID:0080000|MESH:D009135|EFO:0002970 Editor note: consider merging with child owl:Class MONDO:0002081 biolink:NamedThing musculoskeletal system disorder A disease involving the musculoskeletal system. tmpaxzxjjyw_mondo_relaxed.owl musculoskeletal disease|musculoskeletal system disorder|disease or disorder of musculoskeletal system|disorder of musculoskeletal system|disease of musculoskeletal system|musculoskeletal system disease|musculoskeletal disorder|musculoskeletal system disease or disorder ICD9:729.99|NCIT:C107377|UMLS:C0026857|SCTID:928000|DOID:17|MESH:D009140 owl:Class MONDO:0013235 biolink:NamedThing pancreatic cancer, susceptibility to, 2 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene. tmpaxzxjjyw_mondo_relaxed.owl familial pancreatic carcinoma caused by mutation in BRCA2|Pnca2|BRCA2 familial pancreatic carcinoma|pancreatic cancer, susceptibility to, type 2|susceptibility to pancreatic cancer 2|pancreatic cancer, susceptibility to, 2 Orphanet:1333|OMIM:613347 owl:Class HGNC:9666 biolink:NamedThing PTPRC tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:333 biolink:NamedThing AGT tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:24123 biolink:NamedThing B9D1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:121229 biolink:NamedThing Pthiridae tmpaxzxjjyw_mondo_relaxed.owl pubic lice|Phthiridae GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:30005 biolink:NamedThing Anoplura tmpaxzxjjyw_mondo_relaxed.owl sucking lice GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011803 biolink:NamedThing hereditary spastic paraplegia 7 Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia. tmpaxzxjjyw_mondo_relaxed.owl hereditary spastic paraplegia caused by mutation in SPG7|hereditary spastic paraplegia type 7|hereditary spastic paraplegia paraplegin type|autosomal recessive spastic paraplegia 7|spastic paraplegia 7, autosomal recessive|SPG7 hereditary spastic paraplegia|SPG7|spastic paraplegia 7|spastic paraplegia type 7|hereditary spastic paraplegia 7 UMLS:C1846564|GARD:0004927|SCTID:715776003|OMIM:607259|ICD10:G11.4|MESH:C564599|Orphanet:99013|UMLS:C3711370|DOID:0110816 owl:Class MONDO:0015150 biolink:NamedThing complex hereditary spastic paraplegia A hereditary spastic paraplegia that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with hereditary spastic paraplegia|Complex familial spastic paraplegia|Complex SPG|complicated familial spastic paraplegia|complicated hereditary spastic paraplegia|complicated SPG|syndromic hereditary spastic paraplegia|Complex HSP|complicated HSP ICD10:G11.4|SCTID:230261006|Orphanet:102013|UMLS:CN197491|UMLS:C0393556 owl:Class MONDO:0017730 biolink:NamedThing metachromatic leukodystrophy, adult form tmpaxzxjjyw_mondo_relaxed.owl MLD, adult form|arylsulfatase A deficiency, adult form Orphanet:309271|ICD10:E75.2 owl:Class MONDO:0009591 biolink:NamedThing metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes. tmpaxzxjjyw_mondo_relaxed.owl metachromatic leukodystrophy, juvenile|metachromatic leukoencephalopathy|cerebral sclerosis, diffuse, metachromatic form|metachromatic leukodystrophy, adult|metachromatic leukodystrophy|cerebral sclerosis diffuse metachromatic form|Mld|metachromatic leukodystrophy, late infantile|cerebroside sulfatase deficiency|arylsulfatase A deficiency|MLD, juvenile form|arylsulfatase A deficiency, juvenile form|ARSA deficiency|sulfatide lipidosis|MLD|pseudoarylsulfatase A deficiency|metachromatic leukodystrophy, juvenile form|leukodystrophy metachromatic UMLS:C0023522|ICD10:E75.2|OMIM:250100|Orphanet:309263|SCTID:238031009|Orphanet:512|GARD:0004545|GARD:0003230 owl:Class MONDO:0005910 biolink:NamedThing phagocyte bactericidal dysfunction Disorders in which phagocytic cells cannot kill ingested bacteria; characterized by frequent recurring infection with formulation of granulomas. tmpaxzxjjyw_mondo_relaxed.owl phagocytic dysfunction EFO:0007433|DOID:3262|MESH:D010585|UMLS:C0031306 Editor note: consider merging owl:Class MONDO:0004805 biolink:NamedThing leukocyte disorder A disease involving leukocytes. tmpaxzxjjyw_mondo_relaxed.owl white blood cell disorder|leukocyte disease or disorder|disorders, leukocyte|disorder of leukocyte|disease or disorder of leukocyte|leukocyte disorder|disease of leukocyte|leukocyte disease|disorder, leukocyte SCTID:54097007|MESH:D007960|UMLS:C0023510|ICD9:288|DOID:9500|ICD9:288.9|ICD10:D72.9 owl:Class FOODON:00002044 biolink:NamedThing mollusc food product tmpaxzxjjyw_mondo_relaxed.owl mollusk food product owl:Class FOODON:00001293 biolink:NamedThing shellfish food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017296 biolink:NamedThing glycerol kinase deficiency, adult form Adult glycerol kinase deficiency (GKD) is an uncommon form of GKD diagnosed fortuitously and characterized by pseudohypertriglyceridemia in otherwise healthy adults. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E74.8|Orphanet:284414|OMIM:307030 owl:Class MONDO:0018459 biolink:NamedThing isolated glycerol kinase deficiency Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations, depending on the age of onset, and varying from a life-threatening childhood metabolic crisis to an asymptomatic adult form (infantile GKD, juvenile GKD, and adult GKD ). tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic inborn glycerol kinase deficiency|nonsyndromic glycerol kinase deficiency|hyperglycerolemia|isolated inborn glycerol kinase deficiency ICD10:E74.8|GARD:0002807|Orphanet:408|OMIM:307030 Editor note: See https://github.com/monarch-initiative/mondo-build/issues/49 owl:Class MONDO:0004394 biolink:NamedThing maxillary sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpaxzxjjyw_mondo_relaxed.owl maxillofacial sinus epidermoid carcinoma|squamous cell carcinoma of maxillary antrum|epidermoid carcinoma of the maxillary sinus|squamous cell carcinoma of the maxillofacial sinus|squamous cell carcinoma of maxillofacial sinus|squamous cell carcinoma of the maxillary sinus|squamous cell carcinoma of maxillary sinus|squamous cell carcinoma of the maxillary antrum|epidermoid carcinoma of maxillary sinus|maxillary sinus epidermoid carcinoma|epidermoid carcinoma of the maxillary antrum|epidermoid carcinoma of maxillary antrum|epidermoid carcinoma of maxillofacial sinus|maxillary sinus squamous cell carcinoma|epidermoid carcinoma of the maxillofacial sinus|maxillary antrum squamous cell carcinoma|maxillary antrum epidermoid carcinoma|maxillofacial sinus squamous cell carcinoma UMLS:C1334647|SCTID:707354003|DOID:7910|NCIT:C6064 owl:Class MONDO:0011257 biolink:NamedThing MPI-CDG MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1). tmpaxzxjjyw_mondo_relaxed.owl CDG Ib|carbohydrate deficient glycoprotein syndrome type IB|Mpi deficiency|congenital disorder of glycosylation type IB|congenital disorder of glycosylation, type IB|Protein-losing enteropathy-hepatic fibrosis syndrome|CDG, gastrointestinal type|CDG gastrointestinal type|SLSJ syndrome|MPI-CDG (CDG-Ib)|Slsj syndrome|CDG 1B|phosphomannose isomerase deficiency|Saguenay Lac Saint Jean syndrome|carbohydrate-deficient glycoprotein syndrome type 1B|CDG1B|Mannosephosphate isomerase deficiency|Saguenay-Lac Saint-Jean syndrome|congenital disorder of glycosylation type 1b|CDG-Ib|CDG syndrome type IB MESH:C535740|ICD10:E77.8|OMIM:602579|SCTID:124668009|ICD9:277.6|Orphanet:79319|GARD:0009830|DOID:0080554 owl:Class MONDO:0018291 biolink:NamedThing congenital disorder of glycosylation with intestinal involvement tmpaxzxjjyw_mondo_relaxed.owl CDG with intestinal involvement 2022-03-01 Orphanet:371188|ICD10:E77.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: congenital disorder of glycosylation' MONDO_0015286 owl:Class MONDO:0007300 biolink:NamedThing cerebral sarcoma A sarcoma involving a telencephalon. tmpaxzxjjyw_mondo_relaxed.owl telencephalon sarcoma|sarcoma of telencephalon|cerebral sarcoma GARD:0010073|MESH:C537946|UMLS:C1861714|OMIM:117600|Orphanet:2030 https://rarediseases.info.nih.gov/diseases/10073/cerebral-sarcoma owl:Class MONDO:0002216 biolink:NamedThing brain sarcoma A sarcoma arising from the brain. tmpaxzxjjyw_mondo_relaxed.owl primary brain sarcoma|brain sarcoma|sarcoma of brain|sarcoma of the brain NCIT:C5154|DOID:2132|UMLS:C1332607 owl:Class UBERON:0007252 biolink:NamedThing intervertebral disk of cervical vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005174 biolink:NamedThing dorsal region element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014887 biolink:NamedThing bone marrow failure syndrome 3 Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene. tmpaxzxjjyw_mondo_relaxed.owl bone marrow failure syndrome 3|DNAJC21 bone marrow failure syndrome|bone marrow failure syndrome type 3|BMFS3|bone marrow failure syndrome caused by mutation in DNAJC21 UMLS:C4310744|OMIM:617052 owl:Class MONDO:0000159 biolink:NamedThing bone marrow failure syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:614675|MESH:C536572|UMLS:C2931245 Genetic heterogeneity of OMIM 614675 includes 615715. owl:Class ENVO:01001698 biolink:NamedThing polar front A weather front which separates air masses of tropical and polar origin. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001681 biolink:NamedThing weather front A gaseous front which separates two masses of air with different densities and is a principal cause of meteorological phenomena. tmpaxzxjjyw_mondo_relaxed.owl meteorological front owl:Class MONDO:0003330 biolink:NamedThing urinary tract obstruction Blockage of the normal flow of contents of the urinary tract. tmpaxzxjjyw_mondo_relaxed.owl obstructive uropathy|urinary obstruction ICD9:599.60|ICD10:N13.9|NCIT:C79805|SCTID:7163005|ICD9:599.6|DOID:5200|NCIT:C3675|UMLS:C0178879 owl:Class MONDO:0002118 biolink:NamedThing urinary system disorder A disease involving the renal system. tmpaxzxjjyw_mondo_relaxed.owl urological disorder|urinary system disorder|urinary tract disease|urological disease|disease, urologic|disease, urinary tract|disorder of renal system|urological diseases|urological disorders|diseases, urologic|renal system disease or disorder|urinary disease|urinary system disease|renal system disease|disorder of the urinary system|urologic disorder|urinary tract diseases|disease, urological|disease of renal system|diseases, urological|disorder of urinary system|diseases, urinary tract|non-neoplastic urinary tract disease|urologic disease|disease or disorder of renal system|urinary tract disorder ICD9:V47.4|DOID:18|NCIT:C3430|UMLS:C1335051|MESH:D014570|SCTID:128606002 owl:Class MONDO:0020747 biolink:NamedThing sitosterolemia 1 tmpaxzxjjyw_mondo_relaxed.owl STSL1|sitosterolemia 1 OMIM:210250 owl:Class MONDO:0008863 biolink:NamedThing sitosterolemia A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes. tmpaxzxjjyw_mondo_relaxed.owl retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body|STSL|plant sterol storage disease|sitosterolemia|macrothrombocytopenia/stomatocytosis, Mediterranean|phytosterolemia NCIT:C125694|MESH:C537345|OMIMPS:210250|Orphanet:2882|OMIM:210250|OMIMPS:215250|UMLS:C0342907|ICD10:E78.0|DOID:0090019|SCTID:238104009|GARD:0007653|Orphanet:101022|MedDRA:10063985 https://rarediseases.info.nih.gov/diseases/7653/sitosterolemia owl:Class MONDO:0003421 biolink:NamedThing mixed cell adenoma An adenoma characterized by the presence of a mixed epithelial cell population. tmpaxzxjjyw_mondo_relaxed.owl mixed cell adenoma DOID:5385|UMLS:C0334323|ICDO:8323/0|NCIT:C4157 owl:Class MONDO:0021043 biolink:NamedThing mixed neoplasm A neoplasm composed of at least two distinct cellular populations. tmpaxzxjjyw_mondo_relaxed.owl mixed tumor|mixed neoplasm NCIT:C6930|ICDO:8940/1|MESH:D018193 owl:Class MONDO:0003358 biolink:NamedThing anus leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the anus. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of the anus|anal leiomyosarcoma|leiomyosarcoma of anus|anus leiomyosarcoma UMLS:C1332267|NCIT:C5599|DOID:5267 owl:Class MONDO:0002865 biolink:NamedThing anus sarcoma A malignant soft tissue neoplasm arising from the anus. Representative examples include leiomyosarcoma, rhabdomyosarcoma, and Kaposi sarcoma. tmpaxzxjjyw_mondo_relaxed.owl anal sarcoma|sarcoma of the anus|anus sarcoma|sarcoma of anus NCIT:C5611|UMLS:C1332277|DOID:4067 owl:Class MONDO:0013978 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 70 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 70|autosomal recessive deafness 70|autosomal recessive nonsyndromic deafness caused by mutation in PNPT1|PNPT1 autosomal recessive nonsyndromic deafness|DFNB70|autosomal recessive nonsyndromic deafness 70|deafness, autosomal recessive 70|deafness, autosomal recessive type 70 UMLS:C1824925|ICD10:H90.3|DOID:0110521|OMIM:614934 owl:Class CL:0000215 biolink:NamedThing barrier cell A cell whose primary function is to prevent the transport of stuff across compartments. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0000003 biolink:NamedThing native cell A cell that is found in a natural setting, which includes multicellular organism cells 'in vivo' (i.e. part of an organism), and unicellular organisms 'in environment' (i.e. part of a natural environment). tmpaxzxjjyw_mondo_relaxed.owl cell in vivo CARO:0000013 To accommodate unicellular organisms better, 'cell in vivo' has been re-labeled 'native cell' to better represent its intended meaning - that is, that it is a cell in the context of a multicellular organism or in a natural environment. 'Native' is intended to contrast with 'in vitro', which refers to cells or other biological entities that have been intentionally placed in a controlled, non-natural setting for the purpose of study or manipulation. (MAH 1.12.12). cell owl:Class MONDO:0013322 biolink:NamedThing epilepsy, familial adult myoclonic, 3 tmpaxzxjjyw_mondo_relaxed.owl cortical myoclonic tremor with epilepsy, familial, 3|FAME3|epilepsy, familial ADULT myoclonic, 3 OMIM:613608|UMLS:C3150860|MESH:C567098|Orphanet:86814|DOID:0111695 owl:Class MONDO:0000160 biolink:NamedThing epilepsy, familial adult myoclonic tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:601068|DOID:0111689 owl:Class MONDO:0010911 biolink:NamedThing prolactin-producing pituitary gland adenoma Prolactinoma is a usually benign neoplasm of the pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men. tmpaxzxjjyw_mondo_relaxed.owl prolactin producing pituitary gland adenoma|prolactinoma of the pituitary gland|prolactin secreting pituitary adenoma|pituitary adenoma, prolactin-secreting|prolactinoma of the pituitary|lactotrope adenoma|prolactinoma|pituitary gland prolactinoma|PRL-secreting pituitary adenoma|prolactin secreting adenoma|familial prolactinoma|prolactinoma of pituitary|prolactin producing adenoma of pituitary|pituitary lactotrophic adenoma|prolactin-secreting pituitary adenoma|prolactin producing adenoma of pituitary gland|prolactin secreting adenoma of the pituitary gland|prolactinoma, familial|prolactin producing adenoma of the pituitary gland|PRL producing pituitary gland adenoma|prolactin producing adenoma of the pituitary|lactotroph cell adenoma|prolactin secreting pituitary gland adenoma|lactotroph adenoma|pituitary prolactinoma|prolactin secreting adenoma of the pituitary|PRLoma|prolactin producing pituitary adenoma|prolactin secreting adenoma of pituitary gland|prolactin secreting adenoma of pituitary|prolactinoma of pituitary gland|Forbes-Albright syndrome (formerly)|prolactin-producing pituitary gland adenoma GARD:0004508|UMLS:C0033375|ICD10:E22.1|OMIM:600634|SCTID:134209002|Orphanet:314777|ICD10:D35.2|Orphanet:2965|DOID:5394|NCIT:C3342|MedDRA:10036832|ICDO:8271/0|EFO:1000496|MESH:D015175 owl:Class MONDO:0017143 biolink:NamedThing genetic infertility Genetic infertility. tmpaxzxjjyw_mondo_relaxed.owl genetic infertility|hereditary infertility disorder Orphanet:275742 owl:Class MONDO:0100204 biolink:NamedThing parainfluenza virus type 2 infectious disease A disease caused by infection with parainfluenza virus type 2. tmpaxzxjjyw_mondo_relaxed.owl infection caused by human parainfluenza virus 2|human rubulavirus 2 infectious disease|infection due to human parainfluenza virus 2 OMOP:4289924 Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy. http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2063 owl:Class CL:0002539 biolink:NamedThing aortic smooth muscle cell A smooth muscle cell of the aorta. tmpaxzxjjyw_mondo_relaxed.owl BTO:0004577 tmeehan 2011-02-28T01:42:12Z cell owl:Class CL:0000359 biolink:NamedThing vascular associated smooth muscle cell A smooth muscle cell assocatiated with the vasculature. tmpaxzxjjyw_mondo_relaxed.owl vascular smooth muscle cell|VSMC cell owl:Class MONDO:0043005 biolink:NamedThing genetic multiple congenital anomalies/dysmorphic syndrome An instance of multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary multiple congenital anomalies/dysmorphic syndrome Orphanet:183533 owl:Class MONDO:0100121 biolink:NamedThing SCN4A-related myopathy, autosomal recessive Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy. tmpaxzxjjyw_mondo_relaxed.owl congenital myopathy with severe fetal hypokinesia|myopathy with ptosis and mild dystrophic pattern|congenital myopathy with "corona" fibers, selective muscle atrophy, and craniosynostosis|SCN4A-related myopathy, autosomal recessive https://www.clinicalgenome.org/affiliation/40061/ owl:Class MONDO:0006025 biolink:NamedThing autosomal recessive disease Autosomal recessive form of disease. tmpaxzxjjyw_mondo_relaxed.owl disease, autosomal recessive|autosomal recessive disease or disorder|recessive hereditary disorder (autosomal)|autosomal recessive hereditary disease|autosomal recessive inherited disease|autosomal recessive inherited disorder|disease or disorder, autosomal recessive|autosomal recessive hereditary disorder ICD9:758.5|SCTID:85995004|DOID:0050737|EFO:1000017|UMLS:C0265388 owl:Class MONDO:0013352 biolink:NamedThing intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome, also known as intellectual disability with language impairment and with or without autistic features, is adisorder characterized by global developmental delay with moderate to severe speech delay thataffects expressive speech. Most patients have difficulty articulating words. Common signs and symptoms include broad forehead, downslanting palpebral fissures, short nose with broad tip, head appearing too large for the body, frontal hair upsweep, and bulging digit pads anddelatyed gross motor skills. Some patients have autistic features and/or behavioral problems. Congenital malformations may be associated. All reported cases have occurred de novo (without any cases in the family). It is caused by alterations (mutations) in the caused by heterozygous mutation in the FOXP1 gene. tmpaxzxjjyw_mondo_relaxed.owl FOXP1 related global developmental delay, intellectual disability and speech defects|intellectual disability with language impairment and with or without autistic features|intellectual disability-severe speech delay-mild dysmorphism syndrome|mental retardation with language impairment and with or without autistic features ICD10:Q87.2|OMIM:613670|Orphanet:391372|UMLS:C3150923|UMLS:CN204965|EFO:1001500|GARD:0012501|DOID:0111331 https://rarediseases.info.nih.gov/diseases/12501/intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome owl:Class GO:0009583 biolink:NamedThing detection of light stimulus The series of events in which a light stimulus (in the form of photons) is received and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl detection of light|perception of light owl:Class GO:0009581 biolink:NamedThing detection of external stimulus The series of events in which an external stimulus is received by a cell and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl perception of external stimulus owl:Class UBERON:0004986 biolink:NamedThing mucosa of deferent duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001509 biolink:NamedThing triceps brachii tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004255 biolink:NamedThing forelimb stylopod muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014318 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 4 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene. tmpaxzxjjyw_mondo_relaxed.owl PGAP3 hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome type 4|hyperphosphatasia with mental retardation syndrome 4|glycosylphosphatidylinositol biosynthesis defect 10|hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3|hyperphosphatasia with mental retardation syndrome type 4|HPMRS4|hyperphosphatasia with intellectual disability syndrome 4 Orphanet:247262|UMLS:C3810354|OMIM:615716 owl:Class MONDO:0016596 biolink:NamedThing hyperphosphatasia-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl HPMR|hyperphosphatasia with intellectual disability syndrome|Mabry syndrome|hyperphosphatasia with mental retardation syndrome OMIMPS:239300|UMLS:C1855923|SCTID:33982008|OMIM:615716|OMIM:614207|OMIM:616025|OMIM:239300|OMIM:614749|Orphanet:247262|OMIM:616809 owl:Class MONDO:0005454 biolink:NamedThing lung neuroendocrine neoplasm A low, intermediate, or high grade malignant neoplasm with neuroendocrine differentiation that arises from the lung. This category includes typical carcinoid tumor, atypical carcinoid tumor, small cell carcinoma, large cell neuroendocrine carcinoma, and combined carcinoma. tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine neoplasm of the lung|lung neuroendocrine neoplasm|lung neuroendocrine tumor|pulmonary neuroendocrine tumor|lung NET|neuroendocrine neoplasm of lung|lung neuroendocrine tumor, well differentiated, low or intermediate grade|pulmonary neuroendocrine neoplasm UMLS:C1334452|EFO:0005220|SCTID:707594002|NCIT:C5670|DOID:5410|ICD9:209.61|ONCOTREE:LNET owl:Class MONDO:0019226 biolink:NamedThing glucose transport disorder An acquired metabolic disease that is has its basis in the disruption of glucose transport. tmpaxzxjjyw_mondo_relaxed.owl rare inborn error of glucose transport|inborn error of glucose transport UMLS:CN227593|Orphanet:79178|ICD10:E74.8 owl:Class MONDO:0000961 biolink:NamedThing endobronchial lipoma A rare benign adipose tissue neoplasm located within the lumen of a bronchus. It is predominantly found in males and usually originates within the fatty tissue between bronchial cartilage. May cause irreversible pulmonary damage distally. Two-thirds of the tumors occur on the right side and most are located on the first three subdivisions of the tracheobronchial tree. tmpaxzxjjyw_mondo_relaxed.owl endobronchial lipoma NCIT:C5063|UMLS:C0852937|DOID:10183 Editor note: TODO check with NCIT why this is classified as lung owl:Class MONDO:0044335 biolink:NamedThing benign soft tissue neoplasm A non-metastasizing neoplasm that arises from the soft tissue. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of soft tissue|benign soft tissue neoplasm|benign neoplasm of the soft tissue|soft tissue neoplasm, benign|benign soft tissue tumor|benign neoplasm of soft tissue|benign tumor of the soft tissue UMLS:C0334450|ICDO:8800/0|NCIT:C4242|SCTID:92069005 owl:Class MONDO:0011217 biolink:NamedThing desmosterolosis Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol. tmpaxzxjjyw_mondo_relaxed.owl desmosterolosis ICD9:272.8|SCTID:709490002|OMIM:602398|UMLS:C1865596|GARD:0010283|ICD10:Q87.8|MESH:C566555|Orphanet:35107 https://rarediseases.info.nih.gov/diseases/10283/desmosterolosis owl:Class MONDO:0019702 biolink:NamedThing neonatal osteosclerotic dysplasia tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1300205|SCTID:389236000|Orphanet:93443 owl:Class MONDO:0021459 biolink:NamedThing benign neoplasm of esophagus A benign neoplasm that involves the esophagus. tmpaxzxjjyw_mondo_relaxed.owl benign esophagus neoplasm|benign esophagus tumor|benign neoplasm of the esophagus|esophagus benign neoplasm|benign esophageal neoplasm|benign esophageal tumor|benign tumor of the esophagus|benign tumor of esophagus ICD10:D13.0|NCIT:C3598|SCTID:92091003|ICD9:211.0|UMLS:C0153942 owl:Class MONDO:0021355 biolink:NamedThing neoplasm of esophagus A neoplasm (disease) that involves the esophagus. tmpaxzxjjyw_mondo_relaxed.owl tumor of the esophagus|esophagus neoplasm|esophageal neoplasms, benign and malignant|neoplasm of esophagus|esophagus neoplasm (disease)|esophageal neoplasm|tumor of esophagus|neoplasm of the esophagus|esophagus tumor|esophageal tumors|esophageal tumor SCTID:126817006|UMLS:C0014859|NCIT:C3028 owl:Class HGNC:3702 biolink:NamedThing FHL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014837 biolink:NamedThing thrombocytopenia 6 tmpaxzxjjyw_mondo_relaxed.owl THC6|thrombocytopenia type 6|thrombocytopenia 6|hereditary thrombocytopenia with early-onset myelofibrosis|thrombocytopenia, autosomal dominant, 6 UMLS:C4310789|OMIM:616937|Orphanet:480851 owl:Class MONDO:0100241 biolink:NamedThing inherited thrombocytopenia An instance of thrombocytopenia that is inherited. tmpaxzxjjyw_mondo_relaxed.owl hereditary thrombocytopenia OMIM:273900|OMIM:300367|OMIMPS:313900|OMIM:612004|OMIM:188000|OMIM:313900 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0000108 biolink:NamedThing bacteremia, susceptibility tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280646 owl:Class MONDO:0013162 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2N Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl LGMD-POMT2 related|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2|limb-girdle muscular dystrophy type 2N|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2|muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related|POMT2 autosomal recessive limb-girdle muscular dystrophy|MDDGC2|muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related|LGMD2N|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2|muscular dystrophy, limb-girdle, type 2N OMIM:613158|GARD:0012539|DOID:0110298|Orphanet:206559|ICD10:G71.0|UMLS:C3150418 owl:Class MONDO:0000173 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type C tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN262500|OMIMPS:609308 owl:Class UBERON:0003728 biolink:NamedThing mediastinum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002553 biolink:NamedThing anatomical cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016567 biolink:NamedThing locked-in syndrome Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking. tmpaxzxjjyw_mondo_relaxed.owl locked-in state|locked in syndrome|Cerebromedullospinal disconnection GARD:0006919|MedDRA:10024792|ICD10:G83.5|DOID:12697|SCTID:38023001|ICD10:G83.8|ICD9:344.81|Orphanet:2406 https://rarediseases.info.nih.gov/diseases/6919/locked-in-syndrome owl:Class MONDO:0005071 biolink:NamedThing nervous system disorder A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. tmpaxzxjjyw_mondo_relaxed.owl nervous system disorder|neurologic disease|neurologic disorder|disease of nervous system|nervous system disease or disorder|neurological disease|disease or disorder of nervous system|nervous system disease|disorder of nervous system|neurological disorder ICD9:349.9|MESH:D009422|DOID:863|ICD10:G00.G99|NCIT:C2934|ICD10:G98.8|EFO:0000618|SCTID:118940003|NCIT:C26835|ICD10:G00-G99|ICD9:349.89|Wikipedia:Nervous_system_disease|ICD10:G98|UMLS:C0027765 owl:Class GO:0046390 biolink:NamedThing ribose phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar. tmpaxzxjjyw_mondo_relaxed.owl ribose phosphate anabolism|ribose phosphate formation|ribose phosphate biosynthesis|ribose phosphate synthesis owl:Class GO:0019693 biolink:NamedThing ribose phosphate metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. tmpaxzxjjyw_mondo_relaxed.owl ribose phosphate metabolism owl:Class MONDO:0000662 biolink:NamedThing amusia An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. tmpaxzxjjyw_mondo_relaxed.owl receptive amusia UMLS:C0234497|DOID:0060132 owl:Class MONDO:0005638 biolink:NamedThing agnosia A rare disorder characterized by the lack of ability to recognize individuals, objects, shapes, sounds, or smells. There is no loss of memory. It is caused by neurological damage in the brain, specifically in the occipital or parietal lobes. tmpaxzxjjyw_mondo_relaxed.owl dyspraxia (finding)|Monomodal visual amnesia|dyspraxia syndrome|primary visual agnosia|visual amnesia|agnosia DOID:4090|GARD:0000008|SCTID:68345001|MESH:D001072|NCIT:C84542|ICD10:R48.2|MESH:D000377|ICD10:R48.1|EFO:0007136 https://rarediseases.info.nih.gov/diseases/8/agnosia owl:Class MONDO:0004200 biolink:NamedThing superficial urinary bladder carcinoma A term used by urologists to describe an infiltrating carcinoma of the bladder that has not invaded into the muscularis propria of the bladder wall regardless of histologic type or grade. tmpaxzxjjyw_mondo_relaxed.owl superficial bladder carcinoma|superficial bladder cancer|superficial urinary bladder carcinoma|superficial urinary bladder cancer UMLS:C1336527|NCIT:C27474|SCTID:425231005|DOID:7371 owl:Class MONDO:0004986 biolink:NamedThing urinary bladder carcinoma A carcinoma that arises from epithelial cells of the urinary bladder tmpaxzxjjyw_mondo_relaxed.owl carcinoma of bladder|carcinoma of urinary bladder|cancer of urinary bladder|urinary bladder carcinoma|bladder cancer|bladder carcinoma|carcinoma bladder|urinary bladder cancer|cancer of the urinary bladder|cancer of the bladder|cancer of bladder|carcinoma of the urinary bladder|carcinoma of the bladder HP:0002862|DOID:4007|SCTID:255108000|NCIT:C4912|OMIM:109800|UMLS:C0699885|EFO:0000292 owl:Class MONDO:0013710 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 5 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary nonpolyposis colon cancer caused by mutation in MSH6|HNPCC5|colorectal cancer, hereditary nonpolyposis, type 5|MSH6 hereditary nonpolyposis colon cancer UMLS:C1833477|Orphanet:144|MESH:C563456|DOID:0070272|OMIM:614350 owl:Class MONDO:0002756 biolink:NamedThing solitary plasmacytoma of chest wall A solitary plasmacytoma that arises from the chest wall. tmpaxzxjjyw_mondo_relaxed.owl solitary plasmacytoma of chest wall|chest wall solitary plasmacytoma|plasmacytoma of chest wall|solitary plasmacytoma of the chest wall|chest wall plasmacytoma UMLS:C1332936|NCIT:C6711|DOID:3723 owl:Class MONDO:0003985 biolink:NamedThing chest wall lymphoma A lymphoma that affects the structures of the chest wall. The majority of cases are diffuse large B-cell lymphomas. tmpaxzxjjyw_mondo_relaxed.owl chest wall lymphoma|lymphoma of chest wall|lymphoma of the chest wall|chest wall cancer|primary chest wall lymphoma SCTID:712750007|UMLS:C0346948|NCIT:C4580|DOID:6758|UMLS:C1332933|NCIT:C6712 owl:Class UBERON:0005704 biolink:NamedThing secondary palatal shelf mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003323 biolink:NamedThing mesenchyme of upper jaw tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004432 biolink:NamedThing mature pericardial teratoma A benign teratoma that arises from the pericardium. tmpaxzxjjyw_mondo_relaxed.owl mature teratoma of pericardium|pericardium mature teratoma|mature pericardial teratoma|benign pericardial teratoma|mature teratoma of the pericardium NCIT:C6744|DOID:8012|UMLS:C1334638 owl:Class MONDO:0003517 biolink:NamedThing mature teratoma A teratoma which may be cystic; it is composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues. tmpaxzxjjyw_mondo_relaxed.owl mature teratoma ICDO:9080/0|SCTID:254875009|UMLS:C1368910|NCIT:C9015|ONCOTREE:VMT|DOID:5566 owl:Class UBERON:0000998 biolink:NamedThing seminal vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017340 biolink:NamedThing juvenile nasopharyngeal angiofibroma Juvenile nasopharyngeal angiofibroma (JNA) is a rare and benign but locally aggressive fibrovascular tumor arising from the posterolateral wall of the nasopharynx, which affects mainly young and adolescent males (onset usually occurring between 7-19 years of age) and that presents as a mass in the nasopharynx and nasal cavity, leading to manifestations such as nasal obstruction, epistaxis, profound facial swelling, proptosis or diplopia. Although slowly progressive, it has a high rate of recurrence and sometimes invades adjacent structures. tmpaxzxjjyw_mondo_relaxed.owl juvenile nasopharyngeal angiofibroma (disease)|nasopharyngeal juvenile angiofibroma|JNA|juvenile nasopharyngeal angiofibroma|nasopharyngeal angiofibroma juvenile nasopharyngeal angiofibroma (disease) UMLS:C1367536|ICD10:D10.6|SCTID:716590006|HP:0030429|NCIT:C27479|UMLS:CN202999|Orphanet:289596 owl:Class MONDO:0024623 biolink:NamedThing otorhinolaryngologic disease Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases. tmpaxzxjjyw_mondo_relaxed.owl ENT diseases|diseases, otorhinolaryngologic|disease, ENT|disease, otolaryngological|disease, otorhinolaryngological|diseases, ENT|ear, nose and throat disorder|ear/nose/throat disease|otorhinolaryngological disease|otolaryngologic disorder|otolaryngological disease|ENT disease|diseases, otorhinolaryngological|disease, otorhinolaryngologic|otolaryngologic diseases|diseases, otolaryngologic|otolaryngologic disease|otorhinolaryngological diseases|otorhinolaryngologic disease|otolaryngological diseases|disease, otolaryngologic|diseases, otolaryngological|ear, nose or throat disorder UMLS:C0029896|NCIT:C118420|SCTID:232208008|UMLS:C0395797|MESH:D010038|ICD9:478.19 Editor note: consider uberon class owl:Class UBERON:0004116 biolink:NamedThing nerve of tympanic cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011779 biolink:NamedThing nerve of head region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012152 biolink:NamedThing skeleton of pedal digitopodium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012150 biolink:NamedThing skeleton of digitopodium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020246 biolink:NamedThing inherited vitreoretinopathy tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850109|Orphanet:98668|HP:0007773 owl:Class MONDO:0000933 biolink:NamedThing subglottis neoplasm A benign or malignant neoplasm that affects the subglottic area of the larynx. tmpaxzxjjyw_mondo_relaxed.owl subglottic tumor|tumor of subglottis|subglottis neoplasm|tumor of the subglottis|subglottis neoplasm (disease)|neoplasm of the subglottis|subglottic neoplasm|subglottis tumor|neoplasm of subglottis DOID:10069|NCIT:C4426|UMLS:C0345746|SCTID:126696001 owl:Class MONDO:0003761 biolink:NamedThing leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes. tmpaxzxjjyw_mondo_relaxed.owl melanoma of leptomeninges|meningeal melanoma|malignant melanoma of meninges|melanoma of the leptomeninges|leptomeninx melanoma (disease)|leptomeninx melanoma|melanoma (disease) of leptomeninx|leptomeningeal melanoma UMLS:C1334386|DOID:6085|NCIT:C5317|SCTID:277530005 Editor note: TODO check meninx vs leptomeninges owl:Class HsapDv:0000114 biolink:NamedThing 20-year-old human stage Young adult stage that refers to an adult who is over 20 and under 21. tmpaxzxjjyw_mondo_relaxed.owl owl:Class BFO:0000003 biolink:NamedThing occurrent An entity that has temporal parts and that happens, unfolds or develops through time.|An entity that has temporal parts and that happens, unfolds or develops through time. tmpaxzxjjyw_mondo_relaxed.owl Occurrent occurrent Simons uses different terminology for relations of occurrents to regions: Denote the spatio-temporal location of a given occurrent e by 'spn[e]' and call this region its span. We may say an occurrent is at its span, in any larger region, and covers any smaller region. Now suppose we have fixed a frame of reference so that we can speak not merely of spatio-temporal but also of spatial regions (places) and temporal regions (times). The spread of an occurrent, (relative to a frame of reference) is the space it exactly occupies, and its spell is likewise the time it exactly occupies. We write 'spr[e]' and `spl[e]' respectively for the spread and spell of e, omitting mention of the frame.|BFO 2 Reference: every occurrent that is not a temporal or spatiotemporal region is s-dependent on some independent continuant that is not a spatial region|BFO 2 Reference: s-dependence obtains between every process and its participants in the sense that, as a matter of necessity, this process could not have existed unless these or those participants existed also. A process may have a succession of participants at different phases of its unfolding. Thus there may be different players on the field at different times during the course of a football game; but the process which is the entire game s-depends_on all of these players nonetheless. Some temporal parts of this process will s-depend_on on only some of the players.|Occurrent doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. An example would be the sum of a process and the process boundary of another process. An occurrent is an entity that unfolds itself in time or it is the instantaneous boundary of such an entity (for example a beginning or an ending) or it is a temporal or spatiotemporal region which such an entity occupies_temporal_region or occupies_spatiotemporal_region. (axiom label in BFO2 Reference: [077-002]) (forall (x) (iff (Occurrent x) (and (Entity x) (exists (y) (temporalPartOf y x))))) // axiom label in BFO2 CLIF: [079-001] |(forall (x) (if (Occurrent x) (exists (r) (and (SpatioTemporalRegion r) (occupiesSpatioTemporalRegion x r))))) // axiom label in BFO2 CLIF: [108-001] Every occurrent occupies_spatiotemporal_region some spatiotemporal region. (axiom label in BFO2 Reference: [108-001])|b is an occurrent entity iff b is an entity that has temporal parts. (axiom label in BFO2 Reference: [079-001]) owl:Class GO:0033692 biolink:NamedThing cellular polysaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of polysaccharides, polymers of many (typically more than 10) monosaccharide residues linked glycosidically, occurring at the level of an individual cell. tmpaxzxjjyw_mondo_relaxed.owl cellular polysaccharide synthesis|cellular polysaccharide biosynthesis|cellular glycan biosynthesis|cellular glycan biosynthetic process|cellular polysaccharide formation|cellular polysaccharide anabolism owl:Class GO:0034645 biolink:NamedThing cellular macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl cellular macromolecule synthesis|cellular macromolecule anabolism|cellular biopolymer biosynthetic process|cellular macromolecule formation|cellular macromolecule biosynthesis owl:Class MONDO:0005477 biolink:NamedThing ventricular tachycardia A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC) tmpaxzxjjyw_mondo_relaxed.owl MESH:D017180|NCIT:C50802|UMLS:C0042514|ICD10:I47.2|SCTID:25569003|EFO:0005306 owl:Class MONDO:0004884 biolink:NamedThing eye degenerative disorder A neurodegenerative disease that involves the eye. tmpaxzxjjyw_mondo_relaxed.owl degenerative disorder of eye|neurodegenerative disease of eyeball of camera-type eye|degenerative disorder of globe|eye neurodegenerative disease|eyeball of camera-type eye neurodegenerative disease ICD9:360.4|ICD10:H44.5|ICD9:360.2|ICD10:H44.30|UMLS:C0154777|SCTID:62585004|DOID:9799|ICD9:360.40|ICD9:360.20|ICD9:360.29 owl:Class ENVO:01000041 biolink:NamedThing neritic sea surface microlayer biome The neritic sea surface microlayer (SML) biome comprises the top 1000 micrometers of marine surface waters occurring above a continental shelf. It is the boundary layer where all exchange occurs between the atmosphere and the ocean. The chemical, physical, and biological properties of the SML differ greatly from the sub-surface water just a few centimeters beneath. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000032 biolink:NamedThing neritic pelagic zone biome The neritic epipelagic zone biome comprises the marine water column above a continental shelf. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011934 biolink:NamedThing dermatofibrosarcoma protuberans Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22). tmpaxzxjjyw_mondo_relaxed.owl DFSP|dermatofibrosarcoma protuberans|dermatofibrosarcoma|metastatic dermatofibrosarcoma protuberans (subtype)|giant cell fibroblastoma|familial dermatofibrosarcoma protuberans (subtype) ONCOTREE:DFSP|NCIT:C4683|UMLS:C0392784|GARD:0009569|DOID:3507|MedDRA:10057070|Orphanet:31112|SCTID:276799004|ICD10:C49.9|MESH:D018223|ICDO:8832/3|OMIM:607907 https://rarediseases.info.nih.gov/diseases/9569/dermatofibrosarcoma-protuberans owl:Class MONDO:0023603 biolink:NamedThing hereditary disorder of connective tissue An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. tmpaxzxjjyw_mondo_relaxed.owl Hereditary Connective Tissue Disorder|connective tissue hereditary disorder|Mendelian connective tissue disorder|hereditary connective tissue disorder|Inherited disorder of connective tissue|inherited disorder of connective tissue UMLS:C0410787|NCIT:C97075|SCTID:363045008 https://github.com/monarch-initiative/mondo/issues/3606 owl:Class MONDO:0019913 biolink:NamedThing silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, frontal bossing, micrognathia, down-turned corners of the mouth) and other anomalies (fifth finger clinodactyly, café au lait macules, male genital anomalies, mild developmental delay and/or speech delay with movement disorders). tmpaxzxjjyw_mondo_relaxed.owl Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 7|UPD(7)mat UMLS:CN206841|Orphanet:96182|ICD10:Q87.1 owl:Class MONDO:0020056 biolink:NamedThing uniparental disomy of maternal origin tmpaxzxjjyw_mondo_relaxed.owl 2022-04-01 Orphanet:98153|SCTID:726401004|ICD10:Q99.8 Reason: grouping class. Term to consider: none owl:Class MONDO:0013664 biolink:NamedThing 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency tmpaxzxjjyw_mondo_relaxed.owl male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase|SRXY8|46,XY sex reversal type 8|46,XY sex reversal 8 SCTID:49013001|MESH:C564109|UMLS:C1839840|Orphanet:443087|ICD10:E29.1|DOID:0111773|Orphanet:90796|OMIM:614279 owl:Class MONDO:0018618 biolink:NamedThing 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:443090 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class UBERON:0002346 biolink:NamedThing neurectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000923 biolink:NamedThing germ layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class NBO:0000185 biolink:NamedThing declarative memory "Ability to become conscious of, or declare, facts and experiences." [NBO:GVG] tmpaxzxjjyw_mondo_relaxed.owl explicit memory owl:Class NBO:0000181 biolink:NamedThing long-term memory "This type of memory, lasting hours to months, critically depends on a transfer of the information from short term memory using repeated rehearsal." [NBO:GVG] tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000673 biolink:NamedThing integrative agnosia Agnosia characterized by the inability to integrate perceptual wholes within knowledge. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060143 owl:Class MONDO:0025505 biolink:NamedThing mink viral enteritis A highly contagious parvovirus infection in mink, caused by mink enteritis virus or the closely related feline panleukopenia virus or canine parvovirus. Transmission usually occurs by the fecal/oral route. tmpaxzxjjyw_mondo_relaxed.owl enteritis, infectious, of mink|mink viral enteritides|viral enteritis, mink|enteritides, mink viral|enteritis, mink viral|viral enteritides, mink MESH:D053489|UMLS:C1720999 owl:Class MONDO:0002459 biolink:NamedThing type IV hypersensitivity disease A disease that has its basis in the disruption of type IV hypersensitivity. tmpaxzxjjyw_mondo_relaxed.owl type IV hypersensitivity reaction|delayed-type hypersensitivity|delayed hypersensitivity reaction|delayed-type hypersensitivity response|disorder of type IV hypersensitivity|type 4 hypersensitivity reaction|hypersensitivity reaction type IV disease|type IV hypersensitivity|immunoproliferative disease|DTH NCIT:C3115|UMLS:C0020522|DOID:2916|ICD10:C88.9 We make this equivalent with the UMLS concept for the reaction owl:Class MONDO:0007244 biolink:NamedThing Caffey disease Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described. tmpaxzxjjyw_mondo_relaxed.owl cortical congenital hyperostosis|infantile cortical hyperostosis|Caffey disease NCIT:C118423|ICD9:756.59|SCTID:24752008|UMLS:C0020497|GARD:0001051|ICD10:M89.8|Orphanet:1310|MESH:D006958|OMIM:114000|DOID:4257 owl:Class HP:0009145 biolink:NamedThing Abnormal cerebral artery morphology Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of cerebral artery|Abnormality of the cerebral arteries UMLS:C4021520 peter 2008-05-02T01:39:00Z human_phenotype owl:Class HP:0011004 biolink:NamedThing Abnormal systemic arterial morphology An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the systemic arterial tree|Systemic artery abnormality|Arterial abnormalities|Abnormal systemic artery morphology SNOMEDCT_US:234119001|UMLS:C0151489|Fyler:2600|UMLS:C4021205 peter 2011-02-16T08:46:49Z HP:0002620|HP:0005114 human_phenotype owl:Class MONDO:0011864 biolink:NamedThing immunodeficiency, common variable, 1 tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency, common variable, 1|immunodeficiency, common variable, type 1|antibody deficiency due to Icos defect|immunodeficiency, common variable|CVID1 UMLS:C3149378|OMIM:607594|Orphanet:1572|UMLS:C0009447 owl:Class MONDO:0015517 biolink:NamedThing common variable immunodeficiency Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria. tmpaxzxjjyw_mondo_relaxed.owl idiopathic immunoglobulin deficiency|acquired agammaglobulinemia|sporadic hypogammaglobulinemia|Immunoglobulin deficiency, late-onset|primary hypogammaglobulinemia|primary antibody deficiency|common variable agammaglobulinemia|CVID|common variable immune deficiency|acquired hypogammaglobulinemia|secondary hypogammaglobulinemia|hypogamma-globulinemia, acquired|common variable hypogamma-globulinemia OMIM:614700|OMIM:607594|OMIM:615767|ICD10:D83.1|ICD10:D83.0|ICD10:D83.2|OMIM:613496|NCIT:C26725|ICD10:D83|OMIM:616576|ICD10:D83.9|ICD9:279.06|GARD:0006140|Orphanet:1572|MedDRA:10021449|OMIM:240500|DOID:12177|OMIM:613493|UMLS:C0009447|OMIM:615577|SCTID:23238000|OMIM:146830|OMIM:614699|OMIM:613494|OMIM:613495|ICD10:D83.8|MESH:D017074|OMIMPS:607594 owl:Class MONDO:0019752 biolink:NamedThing pediatric Castleman disease Pediatric Castleman disease (PCD) is a form of Castleman disease (CD) with a predominant occurrence in teenagers which is either asymptomatic or manifest by systemic (such as fever, anemia, fatigue and failure to thrive) or compressive symptoms. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206684|Orphanet:93682|ICD10:D36.0 owl:Class MONDO:0021079 biolink:NamedThing childhood neoplasm A benign or malignant neoplasm arising during childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric neoplasm|childhood tumor|pediatric neoplasm (disease)|childhood neoplasm (disease)|pediatric tumor|childhood neoplasm|neoplasm (disease) of childhood NCIT:C6283 owl:Class MONDO:0021345 biolink:NamedThing carcinoma of pharynx A carcinoma that involves the pharynx. tmpaxzxjjyw_mondo_relaxed.owl cancer of the pharynx|pharynx carcinoma|carcinoma of the pharynx|pharyngeal throat cancer|carcinoma of pharynx|pharyngeal carcinoma SCTID:449254004|NCIT:C9466 owl:Class MONDO:0021246 biolink:NamedThing pharynx neoplasm A neoplasm (disease) that involves the pharynx. tmpaxzxjjyw_mondo_relaxed.owl pharyngeal neoplasms|tumor of pharynx|neoplasm of pharynx|pharyngeal tumor|tumor of the pharynx|neoplasm of the pharynx|pharynx tumor|pharynx neoplasm (disease) NCIT:C3325 owl:Class GO:0005604 biolink:NamedThing basement membrane A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. tmpaxzxjjyw_mondo_relaxed.owl basal lamina|basement lamina|lamina densa owl:Class GO:0062023 biolink:NamedThing collagen-containing extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024493 biolink:NamedThing tumor grade 3, general grading system A morphologic qualifier indicating that a cancerous lesion is poorly differentiated. tmpaxzxjjyw_mondo_relaxed.owl high grade|grade III|grade 3|poorly differentiated|G3 UMLS:C0475271|NCIT:C28079 owl:Class MONDO:0024497 biolink:NamedThing tumor grade 3 or 4, general grading system Used to describe tumor samples that exhibit poorly differentiated or undifferentiated cells. They are generally expected to be fast growing and aggressive. tmpaxzxjjyw_mondo_relaxed.owl high grade|grade 3/4 NCIT:C14158 owl:Class MONDO:0014011 biolink:NamedThing autosomal recessive congenital ichthyosis 10 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the PNPLA1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive congenital ichthyosis type 10|ARCI10|ichthyosis, congenital, autosomal recessive 10|ichthyosis, congenital, autosomal recessive type 10 UMLS:C3554355|ICD10:Q80.2|Orphanet:79394|OMIM:615024|DOID:0060719 owl:Class MONDO:0019306 biolink:NamedThing congenital non-bullous ichthyosiform erythroderma A variant of autosomal recessive congenital ichthyosis (ARCI), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body. tmpaxzxjjyw_mondo_relaxed.owl non-bullous congenital ichthyosiform erythroderma|ichthyosiform erythroderma|alligator skin|congenital ichthyosiform erythroderma (disease)|lamellar ichthyosis|CIE|lamellar desquamation of the newborn|congenital ichthyosiform erythroderma|congenital non bullous ichthyosiform erythroderma|erythrodermic ichthyosis|nonbullous congenital ichthyosiform erythroderma OMIM:615023|OMIM:606545|OMIM:612281|DOID:1699|OMIM:615022|OMIM:242100|HP:0007431|ICD10:Q80.2|SCTID:205550003|OMIM:615024|Orphanet:79394 owl:Class MONDO:0015531 biolink:NamedThing non-Langerhans cell histiocytosis Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; juvenile XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES). tmpaxzxjjyw_mondo_relaxed.owl non-Langerhans-cell histiocytosis|histiocytosis, non-Langerhans-cell MESH:D015616|DOID:4330|UMLS:C0019624|ICD10:D76.3|SCTID:127069007|GARD:0008231|Orphanet:157987|ICD9:288.4 owl:Class MONDO:0002637 biolink:NamedThing histiocytosis A morphologic finding indicating tissue infiltration by non-neoplastic or neoplastic histiocytes. tmpaxzxjjyw_mondo_relaxed.owl histiocytic and dendritic cell neoplasms|hand Schuller Christian disease|histiocytic infiltrate|chronic histiocytosis X|histiocytic syndrome NCIT:C3106|MESH:D015614|UMLS:C0019618|DOID:3405|ONCOTREE:HDCN owl:Class MONDO:0008633 biolink:NamedThing Muckle-Wells syndrome Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type). tmpaxzxjjyw_mondo_relaxed.owl Uda syndrome|Muckle Wells syndrome|MWS|urticaria-deafness-amyloidosis syndrome|neutrophilic urticaria|urticaria, deafness and amyloidosis|Cryopyrin-associated periodic syndrome 2|MUCKLE-Wells syndrome|Muckle-Wells syndrome DOID:0050854|ICD10:E85.0|NCIT:C119054|UMLS:C1304205|MedDRA:10064569|OMIM:191900|UMLS:C0268390|GARD:0008472|Orphanet:575|SCTID:402417009|ICD9:708.8 owl:Class MONDO:0016168 biolink:NamedThing cryopyrin-associated periodic syndrome Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS). tmpaxzxjjyw_mondo_relaxed.owl Cryopyrinopathy|caps MESH:D056587|UMLS:C2316212|SCTID:430079001|NCIT:C84657|MedDRA:10068850|Orphanet:208650|ICD9:759.89|ICD10:E85.0|GARD:0010927 owl:Class MONDO:0023419 biolink:NamedThing hyperprolinemia Hyperprolinemia is when there isan excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms:hyperprolinemia type1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern. tmpaxzxjjyw_mondo_relaxed.owl proline oxidase deficiency|hyperprolinemia type 1|proline hydrogenase deficiency DOID:0080541|UMLS:C0268528|OMIM:239500|GARD:0002847|SCTID:59655002|Orphanet:419|ICD9:270.8 https://rarediseases.info.nih.gov/diseases/2847/hyperprolinemia owl:Class MONDO:0017355 biolink:NamedThing inborn disorder of proline metabolism An acquired metabolic disease that is has its basis in the disruption of proline metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of proline metabolism|inborn proline metabolic process disorder|rare inborn error of proline metabolic process|inborn error of proline metabolic process Orphanet:289866|ICD10:E72.8|UMLS:CN227118 owl:Class MONDO:0017543 biolink:NamedThing zygodactyly type 2 tmpaxzxjjyw_mondo_relaxed.owl syndactyly type 1b|syndactyly type 1, Lueken type|Zygodactyly, Lueken type|SD1b|SD1, Lueken type ICD10:Q70.3|Orphanet:295189|ICD10:Q70.2|UMLS:CN203275|ICD10:Q70.1|ICD10:Q70.0 owl:Class MONDO:0008512 biolink:NamedThing syndactyly type 1 Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes. tmpaxzxjjyw_mondo_relaxed.owl Sd1|SDTY1|craniosynostosis, Philadelphia type|chromosome 2q35 DUPLICATION syndrome|syndactyly, type 1|Zygodactyly ICD10:Q70.1|SCTID:715723008|UMLS:C4275033|UMLS:C1861380|OMIM:609815|Orphanet:93402|ICD10:Q70.0|ICD10:Q70.3|OMIM:185900|GARD:0005081|Orphanet:1527|ICD10:Q70.2 owl:Class MONDO:0010432 biolink:NamedThing thrombophilia, X-linked, due to factor 9 defect A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9). tmpaxzxjjyw_mondo_relaxed.owl deep Venous thrombosis, protection against|thrombophilia, X-linked, due to factor 9 defect|thrombophilia, X-linked, due to factor IX defect|THPH8 MESH:C567581|UMLS:C2749016|OMIM:300807 owl:Class MONDO:0100240 biolink:NamedThing inherited thrombophilia An instance of thrombophilia that is inherited. tmpaxzxjjyw_mondo_relaxed.owl hereditary hypercoagulable disorder|hereditary thrombophilia|thrombophilia, hereditary OMIMPS:188050|OMIM:614486|OMIM:188050 http://orcid.org/0000-0001-5208-3432 owl:Class ENVO:01000665 biolink:NamedThing waste role A role that is realized in some process wherein the bearer is discarded or not utilized further. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000931 biolink:NamedThing endometrial disorder A non-neoplastic or neoplastic disorder that affects the endometrium. Representative examples include endometritis, endometrial hyperplasia, and endometrial carcinoma. tmpaxzxjjyw_mondo_relaxed.owl disease of endometrium|disorder of endometrium|endometrial disorder|endometrium disease|endometrium disease or disorder|disease or disorder of endometrium NCIT:C3504|SCTID:418632009|DOID:1005 owl:Class MONDO:0008289 biolink:NamedThing brain small vessel disease 1 with or without ocular anomalies Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene. tmpaxzxjjyw_mondo_relaxed.owl porencephaly type 1|brain small vessel disease with or without ocular anomalies|brain small vessel disease with axenfeld-rieger anomaly|autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy|ADT1P|COL4A1 porencephaly|retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant|POREN1|COL4A1-related familial vascular leukoencephalopathy|BSVD1|leukoencephalopathy with axenfeld-rieger anomaly|T1P|brain small vessel disease with hemorrhage|COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome|hemiplegia, infantile, with porencephaly|porencephaly caused by mutation in COL4A1|COL4A1-related brain small vessel disease with hemorrhage|brain small vessel disease with Axenfeld-Riegar anomaly|infantile hemiparesis|porencephaly 1|hemiplegia, infantile, with porencephaly porencephaly, type 1|BSVD|porencephaly, type 1, autosomal dominant Orphanet:99810|UMLS:CN032791|OMIM:175780|DOID:0090125|MESH:C531642|MESH:C564372|Orphanet:36383|Orphanet:2940|OMIM:607595|ICD10:I67.3 owl:Class MONDO:0020496 biolink:NamedThing familial porencephaly An instance of porencephaly that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary porencephaly|familial porencephalic white matter disease OMIM:175780|Orphanet:99810|OMIMPS:175780|GARD:0002258|ICD10:Q04.6|OMIM:614483 https://rarediseases.info.nih.gov/diseases/2258/familial-porencephaly owl:Class UBERON:0035398 biolink:NamedThing branch of external carotid artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004573 biolink:NamedThing systemic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1242 biolink:NamedThing C1QB tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034728 biolink:NamedThing autonomic nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018468 biolink:NamedThing proton-pump inhibitor-responsive esophageal eosinophilia Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy. tmpaxzxjjyw_mondo_relaxed.owl PPI-responsive esophageal eosinophilia|PPI-REE|PPIRee Orphanet:411696|ICD10:K20 owl:Class MONDO:0018438 biolink:NamedThing eosinophilic gastrointestinal disease tmpaxzxjjyw_mondo_relaxed.owl primary eosinophilic gastrointestinal disease|EGID ICD10:K52.8|UMLS:CN226154|Orphanet:402029 owl:Class ECTO:9001718 biolink:NamedThing exposure to anti-inflammatory drug An exposure to anti-inflammatory drug. tmpaxzxjjyw_mondo_relaxed.owl exposure to anti-inflammatory drug owl:Class ECTO:0000509 biolink:NamedThing exposure to drug An exposure to drug. tmpaxzxjjyw_mondo_relaxed.owl exposure to drug owl:Class UBERON:0016531 biolink:NamedThing white matter of parietal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016527 biolink:NamedThing white matter of cerebral lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001757 biolink:NamedThing pinna tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001444 biolink:NamedThing subdivision of head tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17768 biolink:NamedThing TDP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003364 biolink:NamedThing epithelium of right lung tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005769 biolink:NamedThing geniculate herpes zoster A viral ear infection caused by the spread of varicella-zoster virus to the facial nerves. It is characterized by intense otalgia and a cutaneous vesicular eruption. tmpaxzxjjyw_mondo_relaxed.owl Ramsey Hunt syndrome|Ramsay Hunt syndrome type II|Ramsay Hunt syndrome type 2|Herpes zoster auricularis|geniculate neuralgia|nervus intermedius neuralgia|herpetic geniculate ganglionitis|Herpes Zoster Oticus ICD10:B02.21|NCIT:C84763|ICD9:053.11|ICD9:351.8|EFO:0007281|DOID:9210|UMLS:C0458220|UMLS:C0017409|SCTID:95670000 owl:Class MONDO:0021666 biolink:NamedThing ear infection A viral or bacterial infection that affects the external, middle, or inner ear. It may follow an upper respiratory infection. Signs and symptoms include pain, ear discharge, ear fullness, hearing loss, vertigo, nausea, and vomiting. tmpaxzxjjyw_mondo_relaxed.owl otitis|Ear infection MESH:D010031|UMLS:C0699744|NCIT:C27193 owl:Class MONDO:0023275 biolink:NamedThing Graham-Boyle-Troxell syndrome Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987. tmpaxzxjjyw_mondo_relaxed.owl Graham-Boyle-Troxell syndrome|cystic hamartomata of lung and kidney|cystic hamartoma of lung and kidney|graham Boyle Troxell syndrome SCTID:707530009|GARD:0002557|Orphanet:2111|ICD9:759.6|MESH:C537292|ICD10:Q85.8|UMLS:C2931468 https://rarediseases.info.nih.gov/diseases/2557/graham-boyle-troxell-syndrome owl:Class MONDO:0002413 biolink:NamedThing glycogen storage disease I Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b, and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. tmpaxzxjjyw_mondo_relaxed.owl glycogenosis type 1|glycogen storage disease due to glucose-6-phosphatase deficiency|hepatorenal glycogenosis|glycogen storage disease, type I|GSD type I|von Gierke's disease|glycogen storage disease type 1|glycogen storage disease due to G6P deficiency|glycogen storage disease type I|G6P deficiency|GSD1|glycogen storage disease I|glycogenosis type I|deficiency of glucose-6-phosphatase|GSD due to G6P deficiency|GSD type 1|von Gierke disease ICD10:E74.0|DOID:2749|ICD10:E74.01|OMIM:232200|OMIM:232220|NCIT:C84733|SCTID:7265005|UMLS:C2919796|MESH:D005953|OMIM:232240|MedDRA:10018464|Orphanet:364 MONDO:0018220 owl:Class MONDO:0019743 biolink:NamedThing nephropathy secondary to a storage or other metabolic disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93593|UMLS:CN206659 owl:Class MONDO:0100304 biolink:NamedThing disorder of bile acid aminotransferase Any peroxisomal single enzyme/protein defect that has its basis in the disruption of bile acid aminotransferase. tmpaxzxjjyw_mondo_relaxed.owl disorder of bile acid aminotransferase http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100257 biolink:NamedThing peroxisomal single enzyme/protein defect Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein. tmpaxzxjjyw_mondo_relaxed.owl peroxisomal single enzyme/protein defect http://orcid.org/0000-0001-5208-3432 owl:Class NCBITaxon:33264 biolink:NamedThing Dictyocaulidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6314 biolink:NamedThing Trichostrongyloidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:13222 biolink:NamedThing BCL11B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6015 biolink:NamedThing IL4R tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020122 biolink:NamedThing acquired idiopathic inflammatory myopathy An umbrella term for diseases which have chronic muscle inflammation and weakness of unknown etiology. The types of idiopathic inflammatory myopathy are further defined by either clinicopathologic criteria or by the presence of certain autoantibodies. tmpaxzxjjyw_mondo_relaxed.owl idiopathic inflammatory myositis|IMM|idiopathic inflammatory myopathy, familial|IIm|idiopathic inflammatory myopathies UMLS:C0751356|NCIT:C116796|GARD:0009128|SCTID:702380008|ICD9:359.79|Orphanet:98482 owl:Class MONDO:0600023 biolink:NamedThing idiopathic inflammatory myopathy Idiopathic form of inflammatory myopathy. tmpaxzxjjyw_mondo_relaxed.owl idiopathic myositis UMLS:C0751356|NCIT:C116796|SCTID:702380008|MESH:D009220|OMIM:160750|Orphanet:98482 http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3143 owl:Class CL:0000209 biolink:NamedThing taste receptor cell A cell type found in the spherical or ovoid clusters of receptor cells found mainly in the epithelium of the tongue and constituting the end organs of the sense of taste. tmpaxzxjjyw_mondo_relaxed.owl taste bud cell FMA:67910 cell owl:Class CL:0000098 biolink:NamedThing sensory epithelial cell A specialized epithelial cell involved in sensory perception. Restricted to special sense organs of the olfactory, gustatory, and vestibulocochlear receptor systems; contain sensory cells surrounded by supportive, non-receptive cells. tmpaxzxjjyw_mondo_relaxed.owl neuroepithelial cell BTO:0004301 The term "neuroepithelial cell" is used to describe both this cell type and neurecto-epithelial cell (CL:0000710). cell owl:Class MONDO:0001993 biolink:NamedThing seminal vesicle adenocarcinoma A carcinoma that arises from glandular epithelial cells of the seminal vesicle tmpaxzxjjyw_mondo_relaxed.owl seminal vesicle adenocarcinoma DOID:14545|UMLS:C1519233|NCIT:C39906 owl:Class MONDO:0002790 biolink:NamedThing seminal vesicle tumor A benign or malignant neoplasm that affects the seminal vesicle. Representative examples include cystadenoma and adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl seminal vesicle neoplasm (disease)|neoplasm of seminal vesicle|tumor of seminal vesicle|seminal vesicle neoplasm|seminal vesicle tumor SCTID:236740006|ICD9:239.5|DOID:3855|UMLS:C0341767|NCIT:C39908 owl:Class MONDO:0004890 biolink:NamedThing partial central choroid dystrophy tmpaxzxjjyw_mondo_relaxed.owl partial central choroid dystrophy|circinate choroidal dystrophy|partial central dystrophy of choroid|choroidal dystrophy, central areolar OMIM:613105|UMLS:C0339427|ICD9:363.53|SCTID:193468002|DOID:9822 owl:Class MONDO:0008982 biolink:NamedThing central areolar choroidal dystrophy A hereditary macular disorder, usually presenting between the ages of 30-60, characterized by a large area of atrophy in the centre of the macula and the loss or absence of photoreceptors, retinal pigment epithelium and choriocapillaris in this area, resulting in a progressive decrease in visual acuity. tmpaxzxjjyw_mondo_relaxed.owl choroidal dystrophy central areolar|central areolar choroidal sclerosis|CACD|areolar atrophy of the macula|choroidal dystrophy, central areolar, 1|CACD1|choroidal dystrophy OMIMPS:215500|ICD9:363.54|GARD:0010049|OMIM:613105|MESH:C535358|OMIM:215500|ICD10:H31.2|SCTID:231996009|SCTID:312918002|OMIM:613144|Orphanet:75377 owl:Class UBERON:0002338 biolink:NamedThing lamina propria of bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000031 biolink:NamedThing lamina propria of trachea tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903019 biolink:NamedThing negative regulation of glycoprotein metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of glycoprotein metabolic process. tmpaxzxjjyw_mondo_relaxed.owl down regulation of glycoprotein metabolism|downregulation of glycoprotein metabolic process|down regulation of glycoprotein metabolic process|down-regulation of glycoprotein metabolism|down-regulation of glycoprotein metabolic process|inhibition of glycoprotein metabolism|downregulation of glycoprotein metabolism|inhibition of glycoprotein metabolic process|negative regulation of glycoprotein metabolism owl:Class UBERON:0022248 biolink:NamedThing cerebral nerve fasciculus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001019 biolink:NamedThing nerve fasciculus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009687 biolink:NamedThing myasthenia, congenital, refractory to acetylcholinesterase inhibitors tmpaxzxjjyw_mondo_relaxed.owl myasthenia, congenital, refractory to acetylcholinesterase inhibitors UMLS:C1850806|OMIM:254190|MESH:C564979|Orphanet:590 owl:Class MONDO:0018940 biolink:NamedThing congenital myasthenic syndrome Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness. tmpaxzxjjyw_mondo_relaxed.owl erb-Goldflam syndrome|myasthenia gravis congenital|myasthenic syndrome, congenital|CMS|congenital myasthenia|myasthenia gravis pseudoparalytica|congenital MG|familial limb-girdle myasthenia OMIM:616313|OMIM:616321|OMIM:254190|OMIM:603034|OMIM:616330|OMIM:616326|OMIM:614198|NCIT:C84647|OMIM:617143|GARD:0000098|OMIM:616323|OMIM:616227|OMIM:614750|OMIMPS:601462|OMIM:616228|ICD10:G70.2|OMIM:601462|OMIM:610542|DOID:3635|ICD9:358.00|OMIM:605809|OMIM:254210|UMLS:C0751882|Orphanet:590|OMIM:608930|OMIM:616040|OMIM:616322|OMIM:254300|SCTID:230672006|OMIM:616325|OMIM:616324|GARD:0011902|OMIM:616304|MESH:D020294|OMIM:616314|OMIM:615120|OMIM:616720|ICD9:V17.89|OMIM:608931 https://rarediseases.info.nih.gov/diseases/11902/congenital-myasthenic-syndrome owl:Class UBERON:0011856 biolink:NamedThing acinus of lactiferous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009842 biolink:NamedThing glandular acinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030336 biolink:NamedThing negative regulation of cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of cell migration|down regulation of cell migration|inhibition of cell migration|downregulation of cell migration owl:Class MONDO:0010188 biolink:NamedThing familial isolated deficiency of vitamin E Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. tmpaxzxjjyw_mondo_relaxed.owl familial isolated deficiency of vitamin type E|ataxia, Friedreich-like, with selective vitamin E deficiency|VED|isolated vitamin E deficiency|ataxia with vitamin E deficiency|Friedreich-like ataxia|ataxia with isolated vitamin E deficiency|AVED|familial isolated vitamin E deficiency|vitamin E, familial isolated deficiency OF|Friedreich-like ataxia with selective vitamin E deficiency ICD9:334.3|Orphanet:96|DOID:0090028|OMIM:277460|ICD10:G11.1|ICD9:269.1|SCTID:702442008|MESH:C535393|MedDRA:10047631|GARD:0008595 owl:Class MONDO:0024250 biolink:NamedThing acute lichenoid pityriasis tmpaxzxjjyw_mondo_relaxed.owl Habermanns disease|PLEVA|Mucha Habermann disease|Habermann disease|mucha-habermann syndrome|mucha-habermann disease|parapsoriasis varioliformis acuta|disease, Habermann's|mucha habermann disease|Habermann's disease|Mucha-Habermann disease|disease, Mucha-Habermann|parapsoriasis lichenoides et varioliformis acuta|disease, Habermann ICD9:696.5|SCTID:86487001 owl:Class MONDO:0024249 biolink:NamedThing pityriasis lichenoides A rare cutaneous disorder of unknown etiology that can present either as an acute condition, with multiple papular lesions which become vesicular and necrotic (pityriasis lichenoides et varioliformis acuta) or chronic, with small, scaling papules (pityriasis lichenoides chronica). tmpaxzxjjyw_mondo_relaxed.owl parapsoriasis en gouttes|Pityriasis Lichenoides|acute Pityriasis Lichenoides|chronic Pityriasis Lichenoides|Pityriasis Lichenoides, acute|parapsoriasis guttata|Pityriasis Lichenoides et Varioliformis Acuta|Pityriasis Lichenoides, chronic|Pityriasis Lichenoides chronica|pityriasis lichenoides NCIT:C85013|MESH:D017514|SCTID:200983001|GARD:0010265 owl:Class MONDO:0018418 biolink:NamedThing autosomal recessive spastic paraplegia type 66 tmpaxzxjjyw_mondo_relaxed.owl SPG66 UMLS:CN226125|Orphanet:401815|ICD10:G11.4 owl:Class MONDO:0015089 biolink:NamedThing autosomal recessive complex spastic paraplegia Autosomal recessive form of complex hereditary spastic paraplegia. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive complicated SPG|autosomal recessive complicated spastic paraplegia|autosomal recessive complex hereditary spastic paraplegia|autosomal recessive complex HSP|autosomal recessive complicated HSP|autosomal recessive complex SPG|complex hereditary spastic paraplegia, autosomal recessive ICD10:G11.4|Orphanet:100981|UMLS:CN228909 owl:Class MONDO:0012431 biolink:NamedThing diaphragmatic hernia 3 Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene. tmpaxzxjjyw_mondo_relaxed.owl diaphragmatic hernia type 3|DIH3|congenital diaphragmatic hernia caused by mutation in ZFPM2|ZFPM2 congenital diaphragmatic hernia|diaphragmatic hernia 3 MESH:C565710|OMIM:610187|Orphanet:2140 owl:Class MONDO:0009857 biolink:NamedThing persistent Mullerian duct syndrome Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. tmpaxzxjjyw_mondo_relaxed.owl female genital ducts in otherwise normal Male|persistent Müllerian derivatives|persistent Müllerian duct syndrome|persistent oviduct syndrome|persistent Mullerian duct syndrome|persistent Muellerian duct syndrome|persistent Mullerian derivatives|female genital ducts in otherwise normal male|pseudohermaphroditism, Male internal|PMDS|persistent MULLERIAN duct syndrome, types I and II|persistent mullerian duct syndrome, types 1 and 2|hernia uteri inguinale Orphanet:2856|ICD9:752.89|MESH:C536665|GARD:0008435|SCTID:702358005|OMIM:261550|ICD10:Q55.8|NCIT:C120188|DOID:0050791|UMLS:C1849930 https://rarediseases.info.nih.gov/diseases/8435/persistent-mullerian-duct-syndrome owl:Class MONDO:0005518 biolink:NamedThing pseudohermaphroditism A condition consisting of possessing the internal reproductive organs of one sex while exhibiting some of the secondary sex characteristics of the opposite sex. tmpaxzxjjyw_mondo_relaxed.owl indeterminate sex and pseudohermaphroditism DOID:3765|ICD9:752.7|NCIT:C124575|ICD10:Q56.3|Wikipedia:Pseudohermaphroditism|SCTID:75164001|SCTID:268229003|ICD10:Q56|MESH:D012734|EFO:0005579 owl:Class MONDO:0024468 biolink:NamedThing anterior pituitary gland disorder A disease that involves the adenohypophysis. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of adenohypophysis|adenohypophysis disease or disorder|disease of adenohypophysis|disorder of anterior pituitary|adenohypophysis disease|disorder of adenohypophysis|disorder of anterior pituitary gland SCTID:51742006|ICD9:253.9|ICD9:253.4 owl:Class MONDO:0004047 biolink:NamedThing sphenoidal sinus neoplasm A benign or malignant neoplasm that affects the sphenoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the sphenoid sinus|tumor of the sphenoidal sinus|sphenoid sinus tumor|tumor of sphenoidal sinus|sphenoidal sinus neoplasm (disease)|tumor of the sphenoid sinus|tumor of sphenoid sinus|sphenoid sinus neoplasm|neoplasm of sphenoid sinus|sphenoidal sinus tumor|neoplasm of sphenoidal sinus|neoplasm of the sphenoidal sinus|sphenoidal sinus neoplasm SCTID:126679002|UMLS:C0345676|DOID:6947|NCIT:C6792 MONDO:0021216 owl:Class MONDO:0018698 biolink:NamedThing hereditary neuroendocrine tumor of small intestine An instance of neuroendocrine tumor of the small intestine that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary small intestine neuroendocrine neoplasm|hereditary neuroendocrine tumor of the small intestine|hereditary neuroendocrine tumor of small bowel UMLS:CN237770|UMLS:CN847586|Orphanet:456333 owl:Class MONDO:0018510 biolink:NamedThing small intestine neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine neoplasm of the small intestine|small intestine neuroendocrine tumor|small intestine neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of small intestine|neuroendocrine tumor of small bowel|neuroendocrine tumor of the small intestine|small intestine neuroendocrine neoplasm|small intestinal neuroendocrine neoplasm|NET of the small intestine|small intestine NET UMLS:CN237515|Orphanet:423975|NCIT:C5803|UMLS:C1336005|DOID:4434 owl:Class MONDO:0009839 biolink:NamedThing progressive supranuclear palsy-parkinsonism syndrome PSP-parkinsonism (PSP-P) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. tmpaxzxjjyw_mondo_relaxed.owl atypical PSP|Parkinson-dementia syndrome|PSP-p|PSP-parkinsonism|supranuclear palsy, progressive, 1, atypical|progressive supranuclear palsy atypical|Steele-Richardson-Olszewski syndrome, atypical OMIM:260540|GARD:0004507|ICD10:G23.1|MESH:C537240|Orphanet:683|UMLS:CN201680|Orphanet:99750|Orphanet:240085 owl:Class MONDO:0020488 biolink:NamedThing atypical progressive supranuclear palsy syndrome Atypical progressive supranuclear palsy (atypical PSP) is a group of clinical syndromes associated with underlying PSP-tau pathology, that do not conform to the classic presentation of PSP (Richardson syndrome), a rare late-onset neurodegenerative disease. The group comprises PSP-Parkinsonism (PSP-P), PSP-Pure akinesia with gait freezing (PSP-PAGF), PSP-corticobasal syndrome (PSP-CBS) and PSP-progressive non fluent aphasia (PSP-PNFA). tmpaxzxjjyw_mondo_relaxed.owl atypical PSP syndrome MESH:C537240|ICD10:G23.1|Orphanet:99750|OMIM:260540 owl:Class MONDO:0013939 biolink:NamedThing peroxisome biogenesis disorder 7B tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder 7B|peroxisome biogenesis disorder type 7B|PBD7B Orphanet:772|OMIM:614873|Orphanet:44|UMLS:C3553951 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100271 biolink:NamedThing peroxisome biogenesis disorder due to PEX26 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX26 gene. tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX26 defect|PEX26 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0008583 biolink:NamedThing inherited torticollis A congenital benign lesion that occurs in the distal sternocleidomastoid muscle of infants. It is characterized by the presence of plump spindle cells, and collagenous stroma formation. tmpaxzxjjyw_mondo_relaxed.owl torticollis, congenital|torticollis, familial|familial spasmodic torticollis|fibromatosis colli|congenital wry neck|congenital muscular torticollis|torticollis|congenital sternomastoid torticollis|familial torticollis|contracture of sternocleidomastoid muscle|congenital torticollis|inherited torticollis (disease)|congenital wryneck inherited torticollis (disease) NCIT:C4811|SCTID:70070008|OMIM:189600|SCTID:268240006|HP:0000473|ICD9:723.5|MESH:C535425|GARD:0004908 https://rarediseases.info.nih.gov/diseases/4908/congenital-torticollis owl:Class MONDO:0005031 biolink:NamedThing fibromatosis A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern. tmpaxzxjjyw_mondo_relaxed.owl fibromatosis GARD:0006439|EFO:0000497|OMIM:135290|SCTID:723976005|NCIT:C3042 owl:Class MONDO:0011262 biolink:NamedThing camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). tmpaxzxjjyw_mondo_relaxed.owl camptodactyly, joint contractures, facial skeletal defects|Rozin hertz Goodman syndrome|camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye ICD10:Q87.0|SCTID:715986009|OMIM:602612|UMLS:C1865133|Orphanet:1323|GARD:0000216|MESH:C535876 Editor note: check ORDO owl:Class PO:0025099 biolink:NamedThing embryo plant structure A plant structure (PO:0009011) that is part of an plant embryo (PO:0009009). tmpaxzxjjyw_mondo_relaxed.owl estructura vegetal embriónica (Spanish, exact)|胚性植物構造 (Japanese, exact)|embryonic plant structure (exact) PO_GIT:339|PO_GIT:245 Includes plant structures that only occur in embryos (such as suspensor) as well as plant structures that are part of an embryo when a plant is in the embryonic phase (such as embryonic radicle). rwalls 2010-11-05T01:36:24Z plant_anatomy owl:Class PO:0009011 biolink:NamedThing plant structure A plant anatomical entity (PO:0025131) that is, or was, part of a plant, or was derived from a part of a plant. tmpaxzxjjyw_mondo_relaxed.owl estructura vegetal (Spanish, exact)|植物 構造 (Japanese, exact) PO_GIT:57 'Part' includes both proper parts and the whole plant. CARO:0000003 'connected anatomical structure' is defined as: Material anatomical entity that is a single connected structure with inherent 3D shape, generated by coordinated expression of the organism's own genome. plant_anatomy owl:Class MONDO:0000534 biolink:NamedThing trachea mucoepidermoid carcinoma A mucoepidermoid carcinoma that involves the trachea. tmpaxzxjjyw_mondo_relaxed.owl trachea mucoepidermoid carcinoma DOID:0050919|SCTID:707379000|UMLS:C3873401 owl:Class MONDO:0003036 biolink:NamedThing mucoepidermoid carcinoma A carcinoma morphologically characterized the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. It can occur in several anatomic sites, including parotid gland, oral cavity, paranasal sinus, skin, breast, lung, larynx, and lacrimal ducts. It is classified as low or high grade. tmpaxzxjjyw_mondo_relaxed.owl mucoepidermoid tumor|mucoepidermoid carcinoma|mucoepidermoid tumors|tumors, mucoepidermoid|MEC|MUCC|tumor, mucoepidermoid|mucoepidermoid carcinoma (morphologic abnormality) MESH:D018298|ICDO:8430/1|NCIT:C3772|DOID:4531|EFO:1001049|ONCOTREE:MUCC|GARD:0010671|ICDO:8430/3|MESH:D018277|UMLS:C0206694 Editor notes: classified as a salivary gland carcinoma in DO but not correct as there are other subtypes https://rarediseases.info.nih.gov/diseases/10671/mucoepidermoid-carcinoma owl:Class UBERON:0003855 biolink:NamedThing gonad mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043932 biolink:NamedThing ossification involved in bone remodeling The formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli. tmpaxzxjjyw_mondo_relaxed.owl ossification involved in bone remodelling owl:Class GO:0001503 biolink:NamedThing ossification The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpaxzxjjyw_mondo_relaxed.owl bone biosynthesis|osteogenesis|bone formation owl:Class HP:0100035 biolink:NamedThing Phonic tics Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound. tmpaxzxjjyw_mondo_relaxed.owl Vocal tics|Verbal tics MSH:D020323|UMLS:C0751901 doelkens 2010-06-10T12:13:57Z human_phenotype owl:Class HP:0100033 biolink:NamedThing Tics Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement. tmpaxzxjjyw_mondo_relaxed.owl Tic disorder|Tics UMLS:C2169806 Tics can be invisible to the observer, such as abdominal tensing or toe crunching. Common motor and phonic tics are, respectively, eye blinking and throat clearing. Movements of other movement disorders (for example, chorea, dystonia, myoclonus) must be distinguished from tics. Other conditions, such as autism and stereotypic movement disorder, also include movements which may be confused with tics. Tics must also be distinguished from the compulsions of OCD and from seizure activity. Tics may increase as a result of stress, fatigue, boredom, or high-energy emotions, which can include negative emotions, such as anxiety, but positive emotions as well, such as excitement or anticipation. Relaxation may result in a tic increase (for instance, watching television or using a computer), while concentration on an absorbing activity often leads to a decrease in tics. doelkens 2010-06-10T12:10:29Z human_phenotype owl:Class CHEBI:48154 biolink:NamedThing sulfur oxide tmpaxzxjjyw_mondo_relaxed.owl oxides of sulfur|sulfur oxides|Schwefeloxide owl:Class GO:2001152 biolink:NamedThing negative regulation of renal water transport Any process that stops, prevents or reduces the frequency, rate or extent of renal water transport. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051051 biolink:NamedThing negative regulation of transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of transport|down regulation of transport|downregulation of transport|inhibition of transport owl:Class MONDO:0000314 biolink:NamedThing primary bacterial infectious disease tmpaxzxjjyw_mondo_relaxed.owl DOID:0050338 owl:Class MONDO:0014886 biolink:NamedThing severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl MRT55|mental retardation, autosomal recessive 55|intellectual disability, autosomal recessive 55|intellectual disability, autosomal recessive type 55|mental retardation, autosomal recessive type 55 UMLS:C4310745|Orphanet:488627|OMIM:617051 owl:Class UBERON:0018119 biolink:NamedThing left renal medulla interstitium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018113 biolink:NamedThing left kidney interstitium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032780 biolink:NamedThing negative regulation of ATPase activity Any process that stops or reduces the rate of ATP hydrolysis by an ATPase. tmpaxzxjjyw_mondo_relaxed.owl downregulation of ATPase activity|down regulation of ATPase activity|down-regulation of ATPase activity|negative regulation of adenosinetriphosphatase activity|inhibition of ATPase activity owl:Class GO:0043462 biolink:NamedThing regulation of ATPase activity Any process that modulates the rate of ATP hydrolysis by an ATPase. tmpaxzxjjyw_mondo_relaxed.owl regulation of adenosinetriphosphatase activity owl:Class GO:2000258 biolink:NamedThing negative regulation of protein activation cascade Any process that stops, prevents or reduces the frequency, rate or extent of protein activation cascade. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of protein activation pathway|negative regulation of protein activitory cascade owl:Class GO:0051248 biolink:NamedThing negative regulation of protein metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of chemical reactions and pathways involving a protein. tmpaxzxjjyw_mondo_relaxed.owl downregulation of protein metabolic process|negative regulation of protein metabolism|down-regulation of protein metabolic process|inhibition of protein metabolic process|down regulation of protein metabolic process owl:Class GO:1904226 biolink:NamedThing regulation of glycogen synthase activity, transferring glucose-1-phosphate Any process that modulates the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051338 biolink:NamedThing regulation of transferase activity Any process that modulates the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. tmpaxzxjjyw_mondo_relaxed.owl transferase regulator owl:Class MONDO:0018555 biolink:NamedThing hypogonadotropic hypogonadism Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis. tmpaxzxjjyw_mondo_relaxed.owl gonadotropic deficiency|nIHH|normosmic congenital hypogonadotropic hypogonadism|hypogonadism, hypogonadotropic|central hypogonadism|hypogonadotropic hypogonadism|secondary hypogonadism|Normosmic idiopathic hypogonadotropic hypogonadism|isolated hypogonadotropic hypogonadism|hypogonadotropic hypogonadism with or without anosmia|hypogonadotropism|congenital idiopathic hypogonadotropic hypogonadism|low gonadotropins (secondary hypogonadism)|isolated congenital gonadotropin deficiency OMIM:614840|DOID:0090070|OMIMPS:147950|OMIM:244200|Orphanet:478|OMIM:308700|NCIT:C113347|OMIM:615270|OMIM:614837|OMIM:614841|ICD10:E23.0|OMIM:612370|DOID:7455|SCTID:33927004|Orphanet:432|OMIM:615266|OMIM:614842|OMIM:610628|OMIM:614838|OMIM:612702|OMIM:615269|UMLS:CN235466|HP:0000044|OMIM:614880|OMIM:146110|OMIM:614839|OMIM:147950|ICD9:253.4|OMIM:614858 owl:Class GO:0001869 biolink:NamedThing negative regulation of complement activation, lectin pathway Any process that stops, prevents, or reduces the rate of complement activation by the lectin pathway. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of complement activation, lectin pathway|inhibition of complement activation, lectin pathway|downregulation of complement activation, lectin pathway|down regulation of complement activation, lectin pathway|negative regulation of complement cascade, lectin pathway owl:Class GO:0045824 biolink:NamedThing negative regulation of innate immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response. tmpaxzxjjyw_mondo_relaxed.owl inhibition of innate immune response|down regulation of innate immune response|down-regulation of innate immune response|downregulation of innate immune response owl:Class GO:0045984 biolink:NamedThing negative regulation of pyrimidine nucleobase metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. tmpaxzxjjyw_mondo_relaxed.owl downregulation of pyrimidine base metabolic process|negative regulation of pyrimidine base metabolic process|inhibition of pyrimidine base metabolic process|down regulation of pyrimidine base metabolic process|down-regulation of pyrimidine base metabolic process|negative regulation of pyrimidine base metabolism owl:Class GO:0006142 biolink:NamedThing regulation of pyrimidine nucleobase metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. tmpaxzxjjyw_mondo_relaxed.owl regulation of pyrimidine base metabolic process|regulation of pyrimidine base metabolism owl:Class HGNC:15917 biolink:NamedThing PLCB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0000946 biolink:NamedThing integration_excision_site A region specifically recognised by a recombinase, which inserts or removes another region marked by a distinct cognate integration/excision site. tmpaxzxjjyw_mondo_relaxed.owl integration excision site|attachment site owl:Class SO:0000342 biolink:NamedThing site_specific_recombination_target_region A region specifically recognised by a recombinase where recombination can occur during mitosis or meiosis. tmpaxzxjjyw_mondo_relaxed.owl site specific recombination target region owl:Class MONDO:0035121 biolink:NamedThing myeloid/lymphoid neoplasm associated with JAK2 rearrangement tmpaxzxjjyw_mondo_relaxed.owl myeloid/lymphoid neoplasms with PCM1-JAK2 NCIT:C129853|Orphanet:589542 owl:Class MONDO:0015688 biolink:NamedThing myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 tmpaxzxjjyw_mondo_relaxed.owl myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2|myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1|myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2|myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement|myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1 Orphanet:168943|DOID:0080164|NCIT:C84270|UMLS:C2827356 owl:Class GO:0032092 biolink:NamedThing positive regulation of protein binding Any process that activates or increases the frequency, rate or extent of protein binding. tmpaxzxjjyw_mondo_relaxed.owl up regulation of protein binding|stimulation of protein binding|upregulation of protein binding|activation of protein binding|up-regulation of protein binding owl:Class GO:0043393 biolink:NamedThing regulation of protein binding Any process that modulates the frequency, rate or extent of protein binding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007888 biolink:NamedThing hereditary leiomyomatosis and renal cell cancer Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. tmpaxzxjjyw_mondo_relaxed.owl HLRCC|familial leiomyomatosis|hereditary leiomyomatosis|multiple cutaneous and uterine leiomyomata 1, with or without renal cell carcinoma|familial leiomyomatosis cutis et uteri|multiple cutaneous and uterine leiomyomata|hereditary leiomyomatosis and renal cell cancer|hereditary leiomyomatosis and renal cell carcinoma|Reed's syndrome|familial leiomyomatosis and renal cell cancer|leiomyoma, multiple cutaneous|multiple cutaneous leiomyomata|hereditary leiomyomatosis and renal cell cancer syndrome|Reed syndrome|leiomyomatosis familial|familial leiomyomatosis with renal carcinoma|multiple cutaneous and uterine leiomyomas|LRCC|leiomyomatosis and renal cell cancer, hereditary|familial multiple cutaneous leiomyomas|hereditary multiple cutaneous leiomyomas|hereditary leiomyomatosis with renal carcinoma|MCUL UMLS:C1708350|GARD:0010096|Orphanet:523|OMIM:150800|UMLS:CN239164|ICD10:C64|NCIT:C51302|UMLS:CN073087|MESH:C535516|GARD:0003218 https://rarediseases.info.nih.gov/diseases/10096/hereditary-leiomyomatosis-and-renal-cell-cancer owl:Class UBERON:0008331 biolink:NamedThing clitoral smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005156 biolink:NamedThing reproductive structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011831 biolink:NamedThing duct of vestibular gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00000134 biolink:NamedThing permafrost Soil or rock and included ice or organic material at or below the freezing point of water (0 degrees Celsius or 32 degrees Fahrenheit) for two or more years. tmpaxzxjjyw_mondo_relaxed.owl Permafrost owl:Class ENVO:00010483 biolink:NamedThing environmental material A portion of environmental material is a fiat object part which forms the medium or part of the medium of an environmental system. tmpaxzxjjyw_mondo_relaxed.owl portion of environmental material|environmental owl:Class GO:1903506 biolink:NamedThing regulation of nucleic acid-templated transcription Any process that modulates the frequency, rate or extent of nucleic acid-templated transcription. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016123 biolink:NamedThing muscular tumor tmpaxzxjjyw_mondo_relaxed.owl Orphanet:206982 Editor note: TODO fix. This class is sourced from ORDO, which classifies it as acquired skeletal muscle disease, but not as a tumor. This is unusual, as there is nothing in its name to suggest it is inherently acquired. owl:Class MONDO:0045035 biolink:NamedThing opportunistic infectious A characteristic of an infectious disease in which the disease affects an immunologically compromised host. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0045034 biolink:NamedThing infectious disease characteristic tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004041 biolink:NamedThing urothelial papilloma A rare benign condition, characterized by a papillary growth in the urinary tract with a central fibrovascular core. The latter is lined by normal urothelium. tmpaxzxjjyw_mondo_relaxed.owl transitional cell papilloma of bladder|urothelial papilloma|bladder papilloma|uPA|bladder transitional cell papilloma ICDO:8120/1|ONCOTREE:UPA|NCIT:C3842|DOID:6933 owl:Class MONDO:0003755 biolink:NamedThing urinary tract non-invasive transitional cell neoplasm tmpaxzxjjyw_mondo_relaxed.owl non-invasive transitional cell neoplasm of the urinary tract|non-invasive urothelial neoplasm NCIT:C39854|DOID:6065|UMLS:C1518361 owl:Class MONDO:0043512 biolink:NamedThing traumatic encephalopathy Encephalopathy resulting from trauma. tmpaxzxjjyw_mondo_relaxed.owl post-traumatic dementia|dementia due to head trauma|traumatic encephalopathy|post-traumatic brain syndrome NCIT:C35542|SCTID:230282000|EFO:1001277 Editor note: consider separate class for dementia owl:Class HGNC:12407 biolink:NamedThing TUBA4A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005757 biolink:NamedThing eumycotic mycetoma A chronic granulomatous inflammation involving the deep dermis and the subcutaneous tissues. It is caused by fungi and actinomycetes. tmpaxzxjjyw_mondo_relaxed.owl eumycetoma|Maduromycosis, mycotic|mycotic mycetoma|Madura foot|maduromycosis EFO:0007265|SCTID:410038006|ICD10:B47|ICD10:B47.9|DOID:13078|ICD9:117.4 owl:Class MONDO:0002040 biolink:NamedThing dermatomycosis Superficial infections of the skin or its appendages by any of various fungi. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011630|DOID:1563|ICD9:111.9|MESH:D003881|SCTID:47382004|ICD9:111 owl:Class NCBITaxon:2169701 biolink:NamedThing Onyong-nyong virus tmpaxzxjjyw_mondo_relaxed.owl O'nyong-nyong virus|ONN GC_ID:1 NCBITaxon:11027 ncbi_taxonomy owl:Class NCBITaxon:11019 biolink:NamedThing Alphavirus tmpaxzxjjyw_mondo_relaxed.owl Alphaviridae|arboviruses group A GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014192 biolink:NamedThing primary ciliary dyskinesia 22 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ZMYND10 gene. tmpaxzxjjyw_mondo_relaxed.owl ciliary dyskinesia, primary, 22|ciliary dyskinesia, primary, 22, with or without situs inversus|primary ciliary dyskinesia caused by mutation in ZMYND10|ZMYND10 primary ciliary dyskinesia|primary ciliary dyskinesia 22 with or without situs inversus|primary ciliary dyskinesia type 22|ciliary dyskinesia, primary, type 22|CILD22 DOID:0110597|UMLS:C3809543|OMIM:615444|ICD10:Q34.8 owl:Class MONDO:0003775 biolink:NamedThing lateral ventricle meningioma A meningioma that affects the lateral ventricle of the brain. tmpaxzxjjyw_mondo_relaxed.owl meningioma of the lateral ventricle|telencephalic ventricle meningioma (disease)|meningioma (disease) of telencephalic ventricle|meningioma of lateral ventricle UMLS:C1334380|NCIT:C5302|DOID:6115 owl:Class MONDO:0002772 biolink:NamedThing intraventricular meningioma A meningioma that affects the ventricles of the brain. tmpaxzxjjyw_mondo_relaxed.owl meningioma (disease) of brain ventricle|brain ventricle meningioma (disease) MESH:D008579|NCIT:C5273|UMLS:C1334271|DOID:3772 owl:Class MONDO:0005973 biolink:NamedThing Strongylida infectious disease Infections with nematodes of the order strongylida. tmpaxzxjjyw_mondo_relaxed.owl EFO:0007500|MESH:D017206 owl:Class MONDO:0017089 biolink:NamedThing isolated megalencephaly A megalencephaly (disease) that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic megalencephaly (disease)|isolated macrencephaly|isolated megalencephaly (disease) ICD10:Q04.5|Orphanet:268920 owl:Class CL:0008019 biolink:NamedThing mesenchymal cell A non-polarised cell precursor cell that is part of some mesenchyme, is associated with the cell matrix but is not connected to other cells and is capable of migration. tmpaxzxjjyw_mondo_relaxed.owl mesenchyme cell owl:Class CL:0002371 biolink:NamedThing somatic cell A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). tmpaxzxjjyw_mondo_relaxed.owl FMA:72300|WBbt:0008378|BTO:0001268 tmeehan 2010-09-24T09:44:42Z cell owl:Class MONDO:0010248 biolink:NamedThing X-linked spondyloepimetaphyseal dysplasia X-linked form of spondyloepimetaphyseal dysplasia. tmpaxzxjjyw_mondo_relaxed.owl spondylo-epimetaphyseal dysplasia|SEMDX|SEMD, X-linked|spondyloepimetaphyseal dysplasia, X-linked|SEMD X-linked|spondyloepimetaphyseal dysplasia X-linked GARD:0004979|Orphanet:93349|UMLS:C1848097|ICD10:Q77.7|OMIM:300106|MESH:C564714 https://rarediseases.info.nih.gov/diseases/4979/spondyloepimetaphyseal-dysplasia-x-linked owl:Class MONDO:0016955 biolink:NamedThing partial duplication of the long arm of chromosome 4 Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl distal 4q trisomy|4q duplication|partial duplication of the long arm of chromosome type 4|Duplication 4q|trisomy 4q|Duplication 4q syndrome, partial|partial trisomy of the long arm of chromosome 4|partial duplication of chromosome 4q|partial trisomy 4q syndrome|partial trisomy 4q|4q trisomy|partial trisomy of chromosome 4q|chromosome 4q duplication|chromosome 4, partial trisomy 4q|dup(4q) syndrome, partial|partial trisomy distal 4q GARD:0005347|Orphanet:262860|ICD10:Q92.3|DOID:0111159|UMLS:C0795812|MESH:C537644 owl:Class MONDO:0016924 biolink:NamedThing partial duplication of chromosome 4 tmpaxzxjjyw_mondo_relaxed.owl partial duplication of chromosome type 4|partial trisomy of chromosome 4 Orphanet:262206|SCTID:726342002 owl:Class HP:0002063 biolink:NamedThing Rigidity Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. tmpaxzxjjyw_mondo_relaxed.owl Muscle rigidity|Rigidity MSH:D009127|UMLS:C0026837|SNOMEDCT_US:16046003 Rigidity is often a manifestation of basal ganglia diseases. human_phenotype owl:Class HP:0001276 biolink:NamedThing Hypertonia A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. tmpaxzxjjyw_mondo_relaxed.owl Muscle hypertonia|Spasticity and rigidity of muscles|Hypertonicity|Increased muscle tone SNOMEDCT_US:41581000|UMLS:C0026826|SNOMEDCT_US:56731001|MSH:D009122 Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. HP:0002388 human_phenotype owl:Class GO:1902115 biolink:NamedThing regulation of organelle assembly Any process that modulates the frequency, rate or extent of organelle assembly. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0044087 biolink:NamedThing regulation of cellular component biogenesis Any process that modulates the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030187 biolink:NamedThing melatonin biosynthetic process The chemical reactions and pathways resulting in the formation of melatonin (N-acetyl-5-methoxytryptamine). tmpaxzxjjyw_mondo_relaxed.owl melatonin anabolism|melatonin formation|melatonin synthesis|melatonin biosynthesis owl:Class GO:0043604 biolink:NamedThing amide biosynthetic process The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019267 biolink:NamedThing vitamin B12-unresponsive methylmalonic acidemia type mut- Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. tmpaxzxjjyw_mondo_relaxed.owl vitamin B12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-CoA mutase OMIM:251000|SCTID:237946002|Orphanet:79312|UMLS:CN205894|ICD10:E71.1 owl:Class MONDO:0009612 biolink:NamedThing methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-. tmpaxzxjjyw_mondo_relaxed.owl methylmalonic aciduria, mut(-) type|methylmalonic aciduria, mut(0) type|methylmalonic aciduria mut type|methylmalonyl-CoA mutase deficiency|vitamin B12-unresponsive methylmalonic aciduria|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|MCM deficiency|methylmalonyl-Coenzyme A mutase deficiency|methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency|methylmalonic aciduria, mut type|methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency|vitamin B12-unresponsive methylmalonic acidemia DOID:0060740|Orphanet:27|ICD10:E71.1|Orphanet:289916|UMLS:C1855114|OMIM:251000|GARD:0003586|Orphanet:79312|NCIT:C148366 owl:Class MONDO:0001335 biolink:NamedThing hypotrichosis of eyelid A hypotrichosis that involves the eyelid. tmpaxzxjjyw_mondo_relaxed.owl eyelid hypotrichosis ICD10:H02.72|DOID:11671|UMLS:C0155214|ICD9:374.55|SCTID:70738004 owl:Class UBERON:0016400 biolink:NamedThing infrapatellar fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003577 biolink:NamedThing knee connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004628 biolink:NamedThing gastroduodenitis tmpaxzxjjyw_mondo_relaxed.owl gastroduodenitis|peptic ulcer gastroduodenitis|gastritis and duodenitis ICD9:535.4|DOID:8644|SCTID:196731005|UMLS:C0267166|ICD9:535.50 owl:Class MONDO:0006938 biolink:NamedThing pyelitis Inflammation of the renal pelvis. tmpaxzxjjyw_mondo_relaxed.owl renal pelvis inflammation|inflammation of renal pelvis MedDRA:10037584|EFO:1001140|ICD10:N12|NCIT:C34964|UMLS:C0034183|SCTID:27174002|DOID:2744|MESH:D011702 owl:Class MONDO:0001166 biolink:NamedThing nephritis Inflammation of renal tissue. tmpaxzxjjyw_mondo_relaxed.owl kidney inflammation|inflammation of kidney UMLS:C0027697|ICD9:583.7|ICD10:N05|NCIT:C26833|SCTID:52845002|ICD10:N08|ICD9:583.9|MESH:D009393|DOID:10952|ICD9:583.89 owl:Class MONDO:0009716 biolink:NamedThing Richieri Costa-da Silva syndrome tmpaxzxjjyw_mondo_relaxed.owl myotonia with skeletal abnormalities and intellectual disability|myotonia-intellectual disability-skeletal anomalies syndrome|myotonia with skeletal abnormalities and mental retardation|Richieri Costa Da Silva syndrome UMLS:C2930978|MESH:C535675|Orphanet:3101|ICD10:Q87.8|GARD:0004709|OMIM:255710 https://rarediseases.info.nih.gov/diseases/4709/richieri-costa-da-silva-syndrome owl:Class MONDO:0010680 biolink:NamedThing X-linked Emery-Dreifuss muscular dystrophy X-linked form of Emery-Dreifuss muscular dystrophy. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, tardive, Dreifuss-Emery type, with contractures|X-linked Emery-Dreifuss muscular dystrophy|EMD1|scapuloperoneal syndrome, X-linked, formerly|EMERY-Dreifuss muscular dystrophy 1, X-linked|Emery-Dreifuss muscular dystrophy, X-linked|scapuloperoneal syndrome, X-linked|Emery-Dreifuss muscular dystrophy 1, X-linked|Humeroperoneal neuromuscular disease|Emerinopathy|humeroperoneal neuromuscular disease|muscular dystrophy, tardive Emery-Dreifuss type, with contractures|EDMD1|Humeroperoneal neuromuscular disease, formerly Orphanet:98863|OMIM:310300|Orphanet:261|UMLS:CN069573|ICD10:G71.0|UMLS:C0751337|OMIM:300696|DOID:0070246|NCIT:C168730|GARD:0002102 owl:Class MONDO:0016196 biolink:NamedThing qualitative or quantitative defects of emerin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209188 owl:Class CL:1000286 biolink:NamedThing smooth muscle cell of rectum A smooth muscle cell that is part of the rectum. tmpaxzxjjyw_mondo_relaxed.owl smooth muscle fiber of rectum|non-striated muscle fiber of rectum FMA:17522 cell owl:Class CL:0000192 biolink:NamedThing smooth muscle cell A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast). tmpaxzxjjyw_mondo_relaxed.owl non-striated muscle cell|myocytes, smooth muscle|SMCs|smooth muscle fiber FMA:14072|BTO:0004576|CALOHA:TS-2159 CL:0000191 cell owl:Class GO:0002526 biolink:NamedThing acute inflammatory response Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006954 biolink:NamedThing inflammatory response The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. tmpaxzxjjyw_mondo_relaxed.owl inflammation owl:Class MONDO:0019455 biolink:NamedThing acute panmyelosis with myelofibrosis An acute myeloid leukemia characterized by bone marrow fibrosis without preexisting primary myelofibrosis. tmpaxzxjjyw_mondo_relaxed.owl acute myelosclerosis|APMF|acute myelofibrosis|acute (malignant) myelosclerosis|acute (malignant) myelofibrosis|acute myelodysplasia with myelofibrosis|acute panmyelosis NCIT:C4344|Orphanet:86843|UMLS:C0334674|ONCOTREE:APMF|MedDRA:10000879|ICDO:9931/3|ICD9:289.89|SCTID:109991003|ICD10:C94.4|GARD:0011907 https://rarediseases.info.nih.gov/diseases/11907/acute-panmyelosis-with-myelofibrosis owl:Class MONDO:0015667 biolink:NamedThing acute myeloid leukemia by FAB classification Acute myeloid leukemias that do not fulfill the criteria for inclusion in the group of acute myeloid leukemias which have recurrent genetic abnormalities or myelodysplastic changes, or are therapy-related. This category includes entities classified according to the French-American-British classification scheme. tmpaxzxjjyw_mondo_relaxed.owl acute myeloid leukemia, NOS|acute myeloid leukemia not otherwise categorized|unclassified AML|acute myeloid leukemia|acute myeloid leukemia not otherwise specified|acute myeloid leukemia NOS|AML, NOS|unclassified acute myeloid leukemia NCIT:C27753|GARD:0012760|Orphanet:167714|OMIM:601626 https://rarediseases.info.nih.gov/diseases/12760/unclassified-acute-myeloid-leukemia owl:Class MONDO:0009052 biolink:NamedThing cutis laxa, autosomal recessive, type 1A An autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. tmpaxzxjjyw_mondo_relaxed.owl ARCL1|cutis laxa, autosomal recessive|cutis laxa, autosomal recessive, type IA|autosomal recessive cutis laxa type IA|ARCL1A OMIM:219100|SCTID:59451000|Orphanet:90349|MESH:C562628|UMLS:CN033664|DOID:0070135|ICD10:Q82.8 owl:Class MONDO:0019572 biolink:NamedThing autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli). tmpaxzxjjyw_mondo_relaxed.owl cutis laxa, autosomal recessive type 1|autosomal recessive cutis laxa type I|ARCL1|autosomal recessive cutis laxa, pulmonary emphysema type|cutis laxa, type 1|autosomal recessive cutis laxa with severe systemic involvement|autosomal recessive cutis laxa type 1 GARD:0008480|UMLS:CN206407|ICD10:Q82.8|DOID:0070144|Orphanet:90349|MESH:C536225|OMIM:614437|GARD:8480|SCTID:254222002|OMIM:219100|PMID:19401719 owl:Class UBERON:0003657 biolink:NamedThing limb joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0098975 biolink:NamedThing postsynapse of neuromuscular junction The postsynapse of a neuromuscular junction. In vertebrate muscles this includes the motor end-plate, consisting of postjunctional folds of the sarcolemma. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0098794 biolink:NamedThing postsynapse The part of a synapse that is part of the post-synaptic cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13771 biolink:NamedThing SOST tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016420 biolink:NamedThing familial flecked retinopathy tmpaxzxjjyw_mondo_relaxed.owl hereditary flecked retinopathy Orphanet:227786|UMLS:CN226924|ICD10:H35.5 owl:Class NCBITaxon:12058 biolink:NamedThing Picornaviridae tmpaxzxjjyw_mondo_relaxed.owl Picornavirus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:464095 biolink:NamedThing Picornavirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:49020 biolink:NamedThing hormone antagonist A chemical substance which inhibits the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. tmpaxzxjjyw_mondo_relaxed.owl hormone antagonists owl:Class CHEBI:51061 biolink:NamedThing hormone receptor modulator A drug that modulates the function of the endocrine glands, the biosynthesis of their secreted hormones, or the action of hormones upon their specific sites. tmpaxzxjjyw_mondo_relaxed.owl hormone receptor modulators owl:Class GO:0060407 biolink:NamedThing negative regulation of penile erection Any process that stops, prevents, or reduces the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051241 biolink:NamedThing negative regulation of multicellular organismal process Any process that stops, prevents, or reduces the frequency, rate or extent of an organismal process, the processes pertinent to the function of an organism above the cellular level; includes the integrated processes of tissues and organs. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of multicellular organismal process|inhibition of multicellular organismal process|downregulation of multicellular organismal process|down regulation of multicellular organismal process owl:Class MONDO:0043139 biolink:NamedThing microcephaly sparse hair intellectual disability seizures tmpaxzxjjyw_mondo_relaxed.owl MESH:C537545|GARD:0003633|UMLS:C2931530 owl:Class GO:1905953 biolink:NamedThing negative regulation of lipid localization Any process that stops, prevents or reduces the frequency, rate or extent of lipid localization. tmpaxzxjjyw_mondo_relaxed.owl down regulation of lipid localization|negative regulation of lipid localisation|inhibition of lipid localisation|inhibition of lipid localization|down regulation of lipid localisation|down-regulation of lipid localisation|downregulation of lipid localization|downregulation of lipid localisation|down-regulation of lipid localization owl:Class MONDO:0010212 biolink:NamedThing xeroderma pigmentosum group D Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene. tmpaxzxjjyw_mondo_relaxed.owl XP4|XP group H|XPH|ERCC2 xeroderma pigmentosum|XP-D|XP group D|XP, Group D|XPD|XP4 xeroderma pigmentosum VIII|XP, Group H|xeroderma pigmentosum, complementation group type D|xeroderma pigmentosum group D|xeroderma pigmentosum, complementation group D|XPDC|xeroderma pigmentosum caused by mutation in ERCC2|xeroderma pigmentosum VIII|xeroderma pigmentosum group type D|xeroderma pigmentosum IV|xeroderma pigmentosum 4|XP, Group H, formerly|XP8|XP4 xeroderma pigmentosum VIII, formerly OMIM:278730|NCIT:C3967|Orphanet:220295|DOID:0110845|SCTID:68637004|MESH:C562591|ICD10:Q82.1|Orphanet:910|Orphanet:276258 owl:Class MONDO:0016354 biolink:NamedThing xeroderma pigmentosum-Cockayne syndrome complex Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome (CS). tmpaxzxjjyw_mondo_relaxed.owl XP/CS complex Orphanet:220295|OMIM:278780|OMIM:610651|UMLS:CN201205|ICD10:Q87.1|OMIM:278760|OMIM:278730|ICD10:Q82.1 owl:Class FOODON:03510021 biolink:NamedThing animal as food consumer tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03510136 biolink:NamedThing food consumer group A food consumer group is a class of organism based on their heterotrophic requirements or preferences. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003115 biolink:NamedThing pharyngeal arch 4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002539 biolink:NamedThing pharyngeal arch tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002091 biolink:NamedThing appendicular skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010912 biolink:NamedThing subdivision of skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020303 biolink:NamedThing Angelman syndrome due to paternal uniparental disomy of chromosome 15 tmpaxzxjjyw_mondo_relaxed.owl UPD(15)pat|Angelman syndrome due to paternal uniparental disomy of chromosome type 15 UMLS:CN207117|ICD10:Q93.5|Orphanet:98795 owl:Class MONDO:0001625 biolink:NamedThing corpus luteum cyst A ovarian cyst (disease) that involves the corpus luteum. tmpaxzxjjyw_mondo_relaxed.owl ovarian cyst (disease) of corpus luteum|corpus luteum ovarian cyst (disease) DOID:13050|ICD9:620.1|ICD10:N83.1|SCTID:386762009 owl:Class MONDO:0003282 biolink:NamedThing ovarian cyst tmpaxzxjjyw_mondo_relaxed.owl cysts, ovarian|ovarian cyst|ovarian cyst (disease)|cysts, corpus luteum|corpus luteum cyst|cyst, ovarian|cyst, corpus luteum|corpus luteum cysts ovarian cyst (disease) DOID:5119|HP:0000138|ICD9:620.2|MESH:D010048|SCTID:79883001|ICD10:N83.2 owl:Class GO:1903771 biolink:NamedThing positive regulation of beta-galactosidase activity Any process that activates or increases the frequency, rate or extent of beta-galactosidase activity. tmpaxzxjjyw_mondo_relaxed.owl upregulation of lactose hydrolysis|up regulation of beta-D-galactoside galactohydrolase activity|activation of lactose hydrolysis|up-regulation of lactose hydrolysis|up-regulation of trilactase activity|up-regulation of S 2107|upregulation of oryzatym|positive regulation of sumiklat|activation of beta-D-galactoside galactohydrolase activity|positive regulation of beta-lactosidase activity|positive regulation of beta-D-galactanase activity|upregulation of beta-lactosidase activity|upregulation of beta-D-galactoside galactohydrolase activity|activation of hydrolact|up regulation of trilactase activity|up regulation of lactozym|activation of beta-galactosidase activity|positive regulation of hydrolact|up regulation of beta-lactosidase activity|positive regulation of maxilact|up-regulation of beta-D-lactosidase activity|up regulation of hydrolact|upregulation of maxilact|positive regulation of beta-D-galactoside galactohydrolase activity|up regulation of maxilact|up-regulation of oryzatym|upregulation of hydrolact|up regulation of oryzatym|upregulation of lactozym|up regulation of S 2107|upregulation of beta-D-galactanase activity|positive regulation of lactozym|up-regulation of hydrolact|up-regulation of sumiklat|upregulation of sumiklat|positive regulation of S 2107|up-regulation of beta-galactosidase activity|activation of beta-lactosidase activity|positive regulation of trilactase activity|positive regulation of exo-(1->4)-beta-D-galactanase activity|positive regulation of lactose hydrolysis|up-regulation of beta-lactosidase activity|up regulation of beta-D-lactosidase activity|activation of oryzatym|up regulation of beta-D-galactanase activity|upregulation of S 2107|positive regulation of beta-D-lactosidase activity|upregulation of exo-(1->4)-beta-D-galactanase activity|activation of exo-(1->4)-beta-D-galactanase activity|up-regulation of beta-D-galactanase activity|activation of beta-D-lactosidase activity|activation of trilactase activity|upregulation of beta-D-lactosidase activity|positive regulation of oryzatym|up regulation of beta-galactosidase activity|activation of sumiklat|activation of S 2107|up-regulation of maxilact|activation of lactozym|upregulation of trilactase activity|activation of maxilact|up regulation of lactose hydrolysis|activation of beta-D-galactanase activity|up regulation of exo-(1->4)-beta-D-galactanase activity|up-regulation of lactozym|up-regulation of beta-D-galactoside galactohydrolase activity|upregulation of beta-galactosidase activity|up regulation of sumiklat|up-regulation of exo-(1->4)-beta-D-galactanase activity owl:Class GO:0005216 biolink:NamedThing ion channel activity Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015267 biolink:NamedThing channel activity Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. tmpaxzxjjyw_mondo_relaxed.owl pore activity|pore class transporter activity|channel-forming toxin activity|alpha-type channel activity|nonselective channel activity|substrate-specific channel activity|channel/pore class transporter activity owl:Class UBERON:0011824 biolink:NamedThing fibrous connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011822 biolink:NamedThing dense irregular connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010831 biolink:NamedThing familial caudal dysgenesis Familial caudal dysgenesis is a rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. tmpaxzxjjyw_mondo_relaxed.owl Sdam|caudal dysgenesis familial type|caudal regression|caudal regression syndrome|familial caudal dysgenesis|SDAM|Rudd-Klimek syndrome|sacral agenesis|caudal dysgenesis syndrome|sirenomelia|sacral defect with anterior meningocele Orphanet:3027|UMLS:C1838568|GARD:0000215|OMIM:600145|ICD10:Q87.8|NCIT:C99054|UMLS:C0037205|SCTID:722493007|GARD:0004751|Orphanet:1768|Orphanet:3169 owl:Class GO:0040020 biolink:NamedThing regulation of meiotic nuclear division Any process that modulates the frequency, rate or extent of meiotic nuclear division, the process in which the nucleus of a diploid cell divides twice forming four haploid cells, one or more of which usually function as gametes. tmpaxzxjjyw_mondo_relaxed.owl regulation of meiosis owl:Class GO:0051783 biolink:NamedThing regulation of nuclear division Any process that modulates the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043484 biolink:NamedThing regulation of RNA splicing Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051252 biolink:NamedThing regulation of RNA metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA. tmpaxzxjjyw_mondo_relaxed.owl regulation of RNA metabolism owl:Class HGNC:12784 biolink:NamedThing WNT5A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001119 biolink:NamedThing right lobe of thyroid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001118 biolink:NamedThing lobe of thyroid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007872 biolink:NamedThing LADD syndrome Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations. tmpaxzxjjyw_mondo_relaxed.owl LACRIMOAURICULODENTODIGITAL syndrome|Lacrimoauriculodento-digital syndrome|LADD syndrome|levy Hollister syndrome|lard syndrome|LADD|levy-Hollister syndrome|Lacrimoauriculoradiodental syndrome|lacrimoauriculodentodigital syndrome|Lacrimo-auriculo-dento-digital syndrome UMLS:C0265269|Orphanet:2363|MESH:C538132|DOID:0050331|ICD10:Q87.8|SCTID:23817003|GARD:0006848|OMIM:149730|ICD9:759.89 owl:Class GO:0009124 biolink:NamedThing nucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl nucleoside monophosphate synthesis|nucleoside monophosphate formation|nucleoside monophosphate anabolism|nucleoside monophosphate biosynthesis owl:Class GO:0009123 biolink:NamedThing nucleoside monophosphate metabolic process The chemical reactions and pathways involving a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl nucleoside monophosphate metabolism owl:Class MONDO:0014968 biolink:NamedThing encephalopathy, progressive, with amyotrophy and optic atrophy tmpaxzxjjyw_mondo_relaxed.owl PEAMO|encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMO|encephalopathy, progressive, with amyotrophy and optic atrophy OMIM:617207|UMLS:C4310667 owl:Class MONDO:0019024 biolink:NamedThing mast cell sarcoma A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl mast cell sarcoma|MCS|mast-cell sarcoma|sarcoma of mast cell|MCSL UMLS:C0036221|Orphanet:66661|EFO:1000364|ICD9:202.6|DOID:355|NCIT:C9348|ONCOTREE:MCSL|ICDO:9740/3|SCTID:118615008|ICD10:C96.2|MESH:D012515 owl:Class MONDO:0007950 biolink:NamedThing mastocytosis A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival. tmpaxzxjjyw_mondo_relaxed.owl mast cell hyperplasia|MAST cell disease|Mast cell disease|mastocytosis|urticaria pigmentosa UMLS:C0334664|UMLS:C0042111|OMIM:154800|ICD10:D47.0|ICD10:C96.2|ICD10:Q82.2|GARD:0006987|SCTID:78745000|MESH:D008415|ONCOTREE:MCD|Orphanet:79457|DOID:350|Orphanet:98292|UMLS:C0024899|MedDRA:10026891|NCIT:C84269 owl:Class MONDO:0004017 biolink:NamedThing pineal region immature teratoma tmpaxzxjjyw_mondo_relaxed.owl pineal area immature teratoma|atypical pineal teratoma|immature teratoma of the pineal region|immature teratoma of pineal area|immature teratoma of the pineal area|immature teratoma of pineal region DOID:6858|NCIT:C6755|UMLS:C1335416 owl:Class MONDO:0003514 biolink:NamedThing malignant teratoma A malignant form of teratoma. tmpaxzxjjyw_mondo_relaxed.owl malignant extragonadal teratoma|teratoma, malignant MESH:D013724|DOID:5563|NCIT:C4286|NCIT:C4287 owl:Class UBERON:0011200 biolink:NamedThing sacrococcygeal symphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011317 biolink:NamedThing microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects tmpaxzxjjyw_mondo_relaxed.owl microcephaly, severe, with skeletal anomalies including posterior rib-Gap defects MESH:C566377|OMIM:603394|UMLS:C1863919 owl:Class MONDO:0024417 biolink:NamedThing perceptual disorders Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. tmpaxzxjjyw_mondo_relaxed.owl MESH:D010468 owl:Class MONDO:0020443 biolink:NamedThing absence of innominate vein Absence of innominate vein is a rare congenital anomaly of the great veins characterized by absence of the left brachiocephalic vein (or innominate vein), resulting in an anomalous venous vasculature. Patients are usually asymptomatic and the anomaly is typically discovered intraoperatively. An association with persistence of left superior vena cava, permanent levoatrial cardinal vein or anomaly of the inferior vena cava has been reported in some cases. tmpaxzxjjyw_mondo_relaxed.owl absence of brachiocephalic vein Orphanet:99112|ICD10:Q26.8 owl:Class MONDO:0019829 biolink:NamedThing congenital anomaly of superior vena cava tmpaxzxjjyw_mondo_relaxed.owl congenital anomaly of superior caval vein|congenital anomaly of the SVC ICD9:747.49|Orphanet:95498|SCTID:70195006|ICD10:Q26.9 owl:Class HP:0003128 biolink:NamedThing Lactic acidosis An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. tmpaxzxjjyw_mondo_relaxed.owl Lacticacidemia|Lacticacidosis|Increased lactate in body|Lactic acidemia|Hyperlacticacidemia SNOMEDCT_US:91273001|UMLS:C0001125|SNOMEDCT_US:190882007|UMLS:C0347959|MSH:D000140 Note that the term acidemia is used to describe the state of low pH in the blood, whereas acidosis is used to describe the processes that lead to acidemia. In medical jargon, however, the two terms are used interchangeably. HP:0003255|HP:0005960 human_phenotype owl:Class HP:0001941 biolink:NamedThing Acidosis Abnormal acid accumulation or depletion of base. tmpaxzxjjyw_mondo_relaxed.owl MSH:D000138|UMLS:C0001122|SNOMEDCT_US:51387008 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. HP:0001940 human_phenotype owl:Class UBERON:0004930 biolink:NamedThing submucosa of transverse colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000009 biolink:NamedThing submucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010450 biolink:NamedThing intellectual disability, X-linked 89 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked 89|mental retardation, X-linked 89|MRX89 OMIM:300848|Orphanet:777|MESH:C564036 owl:Class GO:0099170 biolink:NamedThing postsynaptic modulation of chemical synaptic transmission Any process, acting in the postsynapse that results in modulation of chemical synaptic transmission. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050804 biolink:NamedThing modulation of chemical synaptic transmission Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. tmpaxzxjjyw_mondo_relaxed.owl modulation of synaptic transmission|regulation of synaptic transmission|regulation of chemical synaptic transmission owl:Class GO:0007589 biolink:NamedThing body fluid secretion The controlled release of a fluid by a cell or tissue in an animal. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050878 biolink:NamedThing regulation of body fluid levels Any process that modulates the levels of body fluids. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016740 biolink:NamedThing choriocarcinoma of the central nervous system A malignant germ cell tumor of the central nervous system characterized by extra-embryonic differentiation along trophoblastic lines. The diagnosis requires the identification of cytotrophoblastic elements, as well as syncytiotrophoblastic giant cells. (WHO) tmpaxzxjjyw_mondo_relaxed.owl central nervous system choriocarcinoma (disease)|central nervous system choriocarcinoma|choriocarcinoma of the CNS|choriocarcinoma of CNS Orphanet:252015|UMLS:CN201988|NCIT:C7012|UMLS:C1332876 owl:Class MONDO:0002714 biolink:NamedThing central nervous system cancer A malignant neoplasm involving the central nervous system tmpaxzxjjyw_mondo_relaxed.owl central nervous system cancer|cancer of central nervous system|CNS malignant neoplasms|malignant tumor of the CNS|CNS cancer|central nervous system neoplasms, malignant|CNS neoplasm|CNS neoplasms, malignant|malignant tumor of CNS|malignant neoplasm of the CNS|malignant central nervous system tumor|malignant neoplasm of CNS|cancer of the central nervous system|central nervous system tumors|central nervous system tumor|cancer of the CNS|malignant neoplasm of the central nervous system|malignant central nervous system neoplasm|malignant neoplasm of central nervous system|malignant tumor of the central nervous system|malignant CNS neoplasms|malignant CNS tumor|malignant tumor of central nervous system|cancer of CNS|malignant CNS neoplasm ICD10:C72.9|SCTID:126951006|EFO:0000326|ICD9:239.7|NCIT:C4627|DOID:3620|MESH:D016543 owl:Class UBERON:0001893 biolink:NamedThing telencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019457 biolink:NamedThing therapy related acute myeloid leukemia and myelodysplastic syndrome An acute myeloid leukemia secondary to a myelodysplastic syndrome or therapy-related. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl Secondary Acute granulocytic Leukemia|Secondary AGL|Secondary Acute myelocytic Leukemia|Secondary Acute myelogenous Leukemia|therapy-related AML and myelodysplastic syndrome|secondary acute myeloid leukemia|Secondary Acute myeloid Leukemia (AML)|secondary AML|Secondary Acute myeloblastic Leukemia ICD10:C92.0|NCIT:C25765|Orphanet:86846|GARD:0012762|SCTID:721306009|OMIM:601626 https://rarediseases.info.nih.gov/diseases/12762/therapy-related-acute-myeloid-leukemia-and-myelodysplastic-syndrome owl:Class MONDO:0000485 biolink:NamedThing spasmodic dystonia A chronic voice disorder characterized by momentary periods of uncontrolled spasms of the muscles of the larynx. tmpaxzxjjyw_mondo_relaxed.owl laryngeal dyskinesia|adductor spasmodic dysphonia|laryngeal dystonia|mixed spasmodic dysphonia (type)|abductor spasmodic dysphonia|spastic dysphonia|spasmodic dysphonia MESH:D055154|UMLS:C1963946|DOID:0050844|Orphanet:93961|GARD:0007668|SCTID:3331000119108|ICD9:478.79 owl:Class MONDO:0004382 biolink:NamedThing laryngeal disorder A non-neoplastic or neoplastic disorder that affects the larynx. Representative examples include laryngitis, vocal cord polyp, squamous papilloma, and carcinoma. tmpaxzxjjyw_mondo_relaxed.owl disease of larynx|disease or disorder of larynx|laryngeal disease|larynx disease or disorder|larynx disease|laryngeal disorder|disorder of the larynx|disorder of larynx DOID:786|ICD10:S12.8|NCIT:C26810|ICD10:J38.7|ICD9:478.70|UMLS:C0023051|MESH:D007818|SCTID:60600009 owl:Class MONDO:0008558 biolink:NamedThing autoimmune thrombocytopenic purpura An autoimmune disorder in which the number of circulating platelets is reduced due to their antibody-mediated destruction. ITP is a diagnosis of exclusion and is heterogeneous in origin. tmpaxzxjjyw_mondo_relaxed.owl idiopathic thrombocytopenic purpura|werlhof's disease|idiopathic thrombocytopenia purpura|immune thrombocytopenia|AITP|primary thrombocytopenic purpura|thrombocytopenic purpura autoimmune|Ideopath thrombocytopenic pur|immune thrombocytopenic purpura|idiopathic purpura|autoimmune thrombocytopenic purpura|thrombocytopenic purpura, autoimmune|ITP|idiopathic thrombocytopenia MedDRA:10021245|NCIT:C3446|OMIM:188030|DOID:8924|ICD10:D69.3|ICD9:287.31|EFO:0007160|Orphanet:3002|GARD:0005194 owl:Class MONDO:0004680 biolink:NamedThing primary thrombocytopenia tmpaxzxjjyw_mondo_relaxed.owl ICD10:D69.49|ICD10:D69.4|SCTID:267534000|ICD9:287.30|DOID:8925|ICD9:287.39|UMLS:C0701157|ICD9:287.3 owl:Class MONDO:0005929 biolink:NamedThing postpartum depression A type of clinical depression that occurs after childbirth. tmpaxzxjjyw_mondo_relaxed.owl maternity blues|post Natal depression|depression, postnatal|post-Natal depression|depressive episode with postpartum onset|depression, post-Natal|postpartum depression|post-partum depression|major depressive episode with peripartum onset|postnatal depression|post partum depression|depression, post-partum MESH:D019052|EFO:0007453|ICD10:F53|SCTID:279225001|NCIT:C92852|DOID:9478 owl:Class MONDO:0002050 biolink:NamedThing depressive disorder A melancholy feeling of sadness and despair. tmpaxzxjjyw_mondo_relaxed.owl syndromes, depressive|depression|melancholia|melancholias|mental depression|syndrome, depressive ICD9:311|MESH:D003866|SCTID:35489007|ICD10:F32.9|MFOMD:0000013|UMLS:CN236658|DOID:1596|ICD10:F33.9|ICD10:F32|NCIT:C2982 owl:Class MONDO:0012795 biolink:NamedThing hypophosphatemic rickets and hyperparathyroidism tmpaxzxjjyw_mondo_relaxed.owl hypophosphatemic rickets and hyperparathyroidism UMLS:C2677524|MESH:C567423|OMIM:612089 owl:Class CL:0002222 biolink:NamedThing vertebrate lens cell A cell comprising the transparent, biconvex body separating the posterior chamber and vitreous body, and constituting part of the refracting mechanism of the mammalian eye. tmpaxzxjjyw_mondo_relaxed.owl FMA:70950 tmeehan 2010-09-07T10:38:03Z cell owl:Class GO:1903580 biolink:NamedThing positive regulation of ATP metabolic process Any process that activates or increases the frequency, rate or extent of ATP metabolic process. tmpaxzxjjyw_mondo_relaxed.owl up regulation of ATP metabolic process|activation of ATP metabolic process|upregulation of ATP metabolic process|up-regulation of ATP metabolism|positive regulation of ATP metabolism|up-regulation of ATP metabolic process|activation of ATP metabolism|upregulation of ATP metabolism|up regulation of ATP metabolism owl:Class GO:1903035 biolink:NamedThing negative regulation of response to wounding Any process that stops, prevents or reduces the frequency, rate or extent of response to wounding. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of physiological response to wounding|down regulation of physiological response to wounding|inhibition of physiological response to wounding|down regulation of response to wounding|negative regulation of physiological response to wounding|inhibition of response to wounding|down-regulation of response to wounding|downregulation of physiological response to wounding|downregulation of response to wounding owl:Class GO:1903034 biolink:NamedThing regulation of response to wounding Any process that modulates the frequency, rate or extent of response to wounding. tmpaxzxjjyw_mondo_relaxed.owl regulation of physiological response to wounding owl:Class MONDO:0033562 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia tmpaxzxjjyw_mondo_relaxed.owl NEDDISH|NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA OMIM:619005 owl:Class NCBITaxon:1809 biolink:NamedThing Mycobacterium ulcerans tmpaxzxjjyw_mondo_relaxed.owl PMID:12089250|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1763 biolink:NamedThing Mycobacterium tmpaxzxjjyw_mondo_relaxed.owl PMID:7547284|PMID:7547304|PMID:2275850|PMID:1380284|GC_ID:11|PMID:1883713|PMID:1581193|PMID:16014496|PMID:29497402|PMID:31296783|PMID:7907223|PMID:8863452 ncbi_taxonomy owl:Class ENVO:01001087 biolink:NamedThing formation of a liquid aerosol in an atmosphere A process during which an aerosol, consisting of droplets of liquid suspended in gas, is formed in an atmosphere. tmpaxzxjjyw_mondo_relaxed.owl formation of liquid droplets in an atmosphere|formation of liquid particles in an atmosphere owl:Class ENVO:01001085 biolink:NamedThing atmospheric aerosol formation An aerosol formation process which occurs in an atmosphere. tmpaxzxjjyw_mondo_relaxed.owl atmospheric aerosol formation owl:Class ECTO:0000516 biolink:NamedThing exposure to hormone An exposure to hormone. tmpaxzxjjyw_mondo_relaxed.owl exposure to hormone owl:Class ECTO:0000543 biolink:NamedThing exposure to molecular messenger An exposure to molecular messenger. tmpaxzxjjyw_mondo_relaxed.owl exposure to molecular messenger owl:Class MONDO:0009493 biolink:NamedThing Richards-Rundle syndrome Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria. tmpaxzxjjyw_mondo_relaxed.owl ataxia-deafness-intellectual disability syndrome|familial ataxia-hypogonadism syndrome|RICHARDS-RUNDLE syndrome|RRNS|ketoaciduria-mental deficiency syndrome|Richards-Rundle syndrome|ataxia-deafness-mental retardation syndrome|ketoaciduria-intellectual disability-ataxia-deafness syndrome|ataxia-deafness-retardation syndrome with ketoaciduria|ketoaciduria - intellectual disability - ataxia - deafness SCTID:715415005|GARD:0008423|Orphanet:1399|MESH:C535674|OMIM:245100|UMLS:C0796136|ICD10:G60.2 owl:Class MONDO:0100309 biolink:NamedThing hereditary ataxia An instance of an atactic disorder that is caused by an inherited genomic modification in an individual. tmpaxzxjjyw_mondo_relaxed.owl SCA|rare hereditary ataxia ICD10:G11|MESH:C531684|DOID:0050951|SCTID:763597000|GARD:0006614|GARD:0010748|Orphanet:183518 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia owl:Class MONDO:0012799 biolink:NamedThing hypertrophic cardiomyopathy 11 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene. tmpaxzxjjyw_mondo_relaxed.owl CMH11|cardiomyopathy, familial hypertrophic, type 11|hypertrophic cardiomyopathy caused by mutation in ACTC1|ACTC1 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 11|hypertrophic cardiomyopathy type 11|hypertrophic cardiomyopathy 11|cardiomyopathy, familial hypertrophic, 11 UMLS:C2677506|OMIM:612098|MESH:C567419|DOID:0110317 owl:Class CHEBI:22478 biolink:NamedThing amino alcohol An alcohol containing an amino functional group in addition to the alcohol-defining hydroxy group. tmpaxzxjjyw_mondo_relaxed.owl amino alcohols|aminoalcohols|aminoalcohol owl:Class CHEBI:50047 biolink:NamedThing organic amino compound A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by organyl groups. tmpaxzxjjyw_mondo_relaxed.owl organic amino compounds owl:Class GO:0001525 biolink:NamedThing angiogenesis Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. tmpaxzxjjyw_mondo_relaxed.owl blood vessel formation from pre-existing blood vessels owl:Class GO:0048646 biolink:NamedThing anatomical structure formation involved in morphogenesis The developmental process pertaining to the initial formation of an anatomical structure from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. tmpaxzxjjyw_mondo_relaxed.owl formation of an anatomical structure involved in morphogenesis owl:Class MONDO:0013521 biolink:NamedThing dyskeratosis congenita, autosomal dominant 2 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33. tmpaxzxjjyw_mondo_relaxed.owl dyskeratosis congenita, autosomal recessive 4|dyskeratosis congenita, autosomal dominant type 2|DKCA2|autosomal dominant dyskeratosis congenita 2|dyskeratosis congenita, autosomal dominant 2 DOID:0070016|OMIM:613989|Orphanet:3322|UMLS:C3151443|Orphanet:1775 owl:Class MONDO:0015780 biolink:NamedThing dyskeratosis congenita Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer. tmpaxzxjjyw_mondo_relaxed.owl DC|Hoyeraal-Hreidarsson syndrome|dyskeratosis congenita|Zinsser Cole Engman syndrome|Zinsser-Engman-Cole syndrome|DKC OMIM:127550|OMIM:613988|MedDRA:10062759|OMIMPS:127550|OMIM:305000|MESH:D019871|OMIM:224230|OMIM:613990|OMIM:615190|GARD:0010905|DOID:2729|UMLS:C0265965|OMIM:613989|SCTID:74911008|NCIT:C111802|ICD10:Q82.8|Orphanet:1775|OMIM:613987|OMIM:616353 Editor note: in ORDO this is X-linked but this is the inheritance-neutral form and non-X-linked forms exist https://rarediseases.info.nih.gov/diseases/2007/dyskeratosis-congenita-x-linked owl:Class MONDO:0002004 biolink:NamedThing atheroembolism of kidney A cholesterol embolism that involves the kidney. tmpaxzxjjyw_mondo_relaxed.owl kidney cholesterol embolism|cholesterol embolism of kidney DOID:1460|ICD10:I75.81 owl:Class MONDO:0005240 biolink:NamedThing kidney disorder A disease involving the kidney. tmpaxzxjjyw_mondo_relaxed.owl disorder of kidney|kidney disease or disorder|disease of kidney|disease or disorder of kidney|nephropathy|kidney disorder|renal disease|kidney disease|renal disorder ICD10:N28.9|EFO:0003086|SCTID:90708001|NCIT:C3149|ICD9:583.81|MESH:D007674|ICD10:N08|UMLS:C0022658|DOID:557 owl:Class UBERON:0001112 biolink:NamedThing latissimus dorsi muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001482 biolink:NamedThing muscle of shoulder tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002088 biolink:NamedThing lens development in camera-type eye The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. tmpaxzxjjyw_mondo_relaxed.owl lens development|lens development in camera-style eye owl:Class UBERON:0002397 biolink:NamedThing maxilla tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005427 biolink:NamedThing corneal primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024239 biolink:NamedThing congenital anomaly of cardiovascular system A disease that has its basis in the disruption of cardiovascular system development. tmpaxzxjjyw_mondo_relaxed.owl cardiovascular system development disease|congenital cardiovascular anomaly|disorder of cardiovascular system development|congenital cardiovascular disorder|congenital anomaly of cardiovascular system|congenital Abnormality of the circulatory system|congenital cardiovascular Abnormality ICD9:747.89|SCTID:9904008|ICD9:747.9|NCIT:C35729 owl:Class UBERON:0015014 biolink:NamedThing calcaneum endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015050 biolink:NamedThing tarsus endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006464 biolink:NamedThing cellular protein modification process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). tmpaxzxjjyw_mondo_relaxed.owl process resulting in protein modification|protein modification process|protein tagging activity owl:Class GO:0044267 biolink:NamedThing cellular protein metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. tmpaxzxjjyw_mondo_relaxed.owl cellular protein metabolism owl:Class UBERON:0009663 biolink:NamedThing telencephalic nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0022603 biolink:NamedThing regulation of anatomical structure morphogenesis Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl regulation of morphogenesis owl:Class GO:0050793 biolink:NamedThing regulation of developmental process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004518 biolink:NamedThing anterior urethra cancer A malignant neoplasm that affects the portion of the urethra that is close to the outside of the body. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of the anterior urethra|malignant neoplasm of the anterior urethra|malignant neoplasm of anterior urethra|anterior urethral cancer|anterior urethral malignant tumor|anterior urethra malignant tumor|anterior urethral malignant neoplasm|malignant tumor of anterior urethra|anterior urethra malignant neoplasm UMLS:C0279930|DOID:8272|NCIT:C7641 owl:Class MONDO:0004192 biolink:NamedThing urethra cancer A malignant neoplasm involving the urethra tmpaxzxjjyw_mondo_relaxed.owl malignant urethral neoplasm|cancer of urethra|malignant urethra tumor|malignant urethra neoplasm|malignant tumor of the urethra|malignant tumour of urethra|malignant tumor of urethra|malignant neoplasm of the urethra|malignant urethral tumor|urethral Ca|urethra cancer|urethral cancer|malignant neoplasm of urethra ICD9:189.3|SCTID:363459007|GARD:0009390|DOID:734|NCIT:C9106|ICD10:C68.0|NCIT:C7507|ONCOTREE:UCA owl:Class MONDO:0016483 biolink:NamedThing intracranial berry aneurysm An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. tmpaxzxjjyw_mondo_relaxed.owl saccular cerebral aneurysm|aneurysm, intracranial berry|familial cerebral saccular aneurysm|familial berry aneurysm|familial intracranial saccular aneurysm|familial aneurysmal subarachnoid hemorrhage DOID:0060228|OMIMPS:105800|OMIM:300870|OMIM:611892|OMIM:612586|HP:0007029|Orphanet:231160|OMIM:610213|OMIM:612161|OMIM:609122|OMIM:612587|ICD10:I60.7|UMLS:CN230268|ICD10:I67.1|OMIM:614252|SCTID:703226008|OMIM:105800|OMIM:608542|OMIM:612162 owl:Class MONDO:0015953 biolink:NamedThing genetic central nervous system and retinal vascular disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:183503|UMLS:CN200550 owl:Class MONDO:0000210 biolink:NamedThing thiopurine metabolic disease tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:610460 owl:Class HGNC:403 biolink:NamedThing ALDH3A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008030 biolink:NamedThing facioscapulohumeral muscular dystrophy 1 Any facioscapulohumeral muscular dystrophy in which the cause of the disease is a mutation in the FRG1 gene. tmpaxzxjjyw_mondo_relaxed.owl Landouzy-Dejerine muscular dystrophy|muscular dystrophy, facioscapulohumeral|muscular dystrophy, facioscapulohumeral, type 1A|facioscapulohumeral muscular dystrophy caused by mutation in FRG1|FSHD1A|FSHD1|FMD|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles|FRG1 facioscapulohumeral muscular dystrophy|FSHD|muscular dystrophy, facioscapulohumeral, type 1|facioscapulohumeral muscular dystrophy type 1|facioscapulohumeral muscular dystrophy, infantile|FSHMD1A|facioscapulohumeral muscular dystrophy 1|Landouzy-Dejerine muscular dystrophy facioscapulohumeral muscular dystrophy, infantile, included|facioscapulohumeral muscular dystrophy|facioscapulohumeral dystrophy with sensorineural hearing loss and tortuosity of retinal arterioles, included|facioscapulohumeral muscular dystrophy 1A MESH:C536391|DOID:0111192|OMIM:158900|Orphanet:269|GARD:0009941 https://rarediseases.info.nih.gov/diseases/9941/facioscapulohumeral-muscular-dystrophy owl:Class MONDO:0001347 biolink:NamedThing facioscapulohumeral muscular dystrophy An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well. tmpaxzxjjyw_mondo_relaxed.owl facioscapulohumeral myopathy|Landouzy-Dejerine muscular dystrophy|muscular dystrophy, Landouzy-Dejerine|FSHD|Landouzy-Dejerine myopathy|facioscapulohumeral muscular dystrophy|FSH dystrophy|facioscapulohumeral dystrophy|Landouzy Dejerine muscular dystrophy OMIM:158900|MESH:D020391|NCIT:C84704|MedDRA:10064087|DOID:11727|ICD10:G71.0|OMIM:158901|OMIM:600416|OMIMPS:158900|SCTID:399091004|Orphanet:269 owl:Class MONDO:0013890 biolink:NamedThing congenital myopathy with internal nuclei and atypical cores Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients. tmpaxzxjjyw_mondo_relaxed.owl myopathy, centronuclear, 4|myopathy, centronuclear, type 4|CNM4|centronuclear myopathy type 4 UMLS:C3553709|SCTID:764945007|OMIM:614807|Orphanet:319160|ICD10:G71.2 owl:Class MONDO:0015765 biolink:NamedThing congenital myopathy with cores tmpaxzxjjyw_mondo_relaxed.owl ICD10:G71.2|Orphanet:172976 owl:Class UBERON:0014393 biolink:NamedThing sweat of axilla tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001089 biolink:NamedThing sweat tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032726 biolink:NamedThing combined oxidative phosphorylation deficiency 39 tmpaxzxjjyw_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39|COXPD39 DOID:0111475|Orphanet:565624|OMIM:618397 owl:Class MONDO:0000732 biolink:NamedThing combined oxidative phosphorylation deficiency A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060286|GARD:0012893|OMIMPS:609060 https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency owl:Class GO:0045617 biolink:NamedThing negative regulation of keratinocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of keratinocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of keratinocyte differentiation|down-regulation of keratinocyte differentiation|down regulation of keratinocyte differentiation|inhibition of keratinocyte differentiation owl:Class MONDO:0017999 biolink:NamedThing fatty acid hydroxylase-associated neurodegeneration Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a very rare, autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA) characterized by childhood-onset focal dystonia, progressive spastic paraplegia that progresses to tetra paresis, ataxia, dysarthria, intellectual decline, and oculomotor disturbances (optic atrophy), accompanied by iron deposition in the globus pallidus. tmpaxzxjjyw_mondo_relaxed.owl FAHN Orphanet:329308|ICD10:G23.0|GARD:0010810 owl:Class MONDO:0013088 biolink:NamedThing follicular lymphoma, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl follicular lymphoma, susceptibility to, 1|FL1 Orphanet:545|OMIM:613024 owl:Class MONDO:0015103 biolink:NamedThing pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome is a rare congenital heart malformation characterized by a tetralogy of Fallot (pulmonary stenosis, overriding aorta, ventricular septal defect and right ventricular hypertrophy), complete absence or rudimentary pulmonary valve that is both stenotic and regurgitant and an absence of the ductus arteriosus. It presents prenatally with cardiomegaly, polyhydramnios, fetal heart failure, hydrops fetalis and fetal demise or postnatally with cyanosis and respiratory failure due to bronchomalacia secondary to bronchial compression from dilated pulmonary arteries. It is frequently associated with 22q11 deletion. tmpaxzxjjyw_mondo_relaxed.owl absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome|PVA/ADA, Fallot type|APV/ADA, Fallot type ICD10:Q22.2|UMLS:CN197455|Orphanet:101206 owl:Class MONDO:0020064 biolink:NamedThing pulmonary valve agenesis Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.3424 tmpaxzxjjyw_mondo_relaxed.owl PVA|pulmonary valves agenesis|absent pulmonary valve syndrome|congenital absence of the pulmonary valve GARD:0004597|SCTID:6996004|ICD10:Q22.2|Orphanet:982 owl:Class GO:0010770 biolink:NamedThing positive regulation of cell morphogenesis involved in differentiation Any process that increases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010769 biolink:NamedThing regulation of cell morphogenesis involved in differentiation Any process that modulates the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042776 biolink:NamedThing mitochondrial ATP synthesis coupled proton transport The transport of protons across a mitochondrial membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial proton transport owl:Class GO:1990542 biolink:NamedThing mitochondrial transmembrane transport The process in which a solute is transported from one side of a membrane to the other into, out of or within a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010886 biolink:NamedThing 2q37 microdeletion syndrome Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl Albright hereditary osteodystrophy-like syndrome|brachydactyly mental retardation syndrome|deletion 2q37|chromosome 2q37 deletion syndrome|brachydactyly intellectual disability syndrome|BDMR|brachydactyly-intellectual disability syndrome|2q37 deletion syndrome|Del(2)(q37)|monosomy 2q37-qter|Albright hereditary osteodystrophy type 3|deletion 2q37-qter|brachydactyly-mental retardation syndrome|2q37 microdeletion syndrome SCTID:702357000|UMLS:C2931817|ICD9:758.39|DOID:0111704|Orphanet:1001|OMIM:600430|GARD:0010202|NCIT:C129021|MESH:C538317|ICD10:Q93.5 owl:Class MONDO:0016901 biolink:NamedThing partial deletion of the long arm of chromosome 2 Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 2q|partial deletion of the long arm of chromosome type 2|monosomy 2q|2q deletion|partial monosomy of the long arm of chromosome 2|chromosome 2q deletion|2q monosomy|partial deletion of chromosome 2q|partial monosomy 2q|deletion 2q ICD10:Q93.5|GARD:0003744|UMLS:C0795804|MESH:C538315|Orphanet:262010 owl:Class MONDO:0002488 biolink:NamedThing intraductal breast neoplasm A benign or malignant epithelial neoplasm that arises anywhere in the ductal system of the breast. This category includes intraductal papilloma, intraductal papillary carcinoma, ductal hyperplasia with or without atypia, and ductal carcinoma in situ. tmpaxzxjjyw_mondo_relaxed.owl intraductal breast neoplasm NCIT:C36083|DOID:3013|UMLS:C0948967 owl:Class HGNC:18153 biolink:NamedThing TNFRSF13B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001449 biolink:NamedThing phalanx of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003221 biolink:NamedThing phalanx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020106 biolink:NamedThing hemolytic anemia due to a disorder of glycolytic enzymes tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98372|UMLS:CN227783|ICD10:D55.2 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemolytic anemia' MONDO_0003664 owl:Class MONDO:0037792 biolink:NamedThing carbohydrate metabolism disease A disease that has its basis in the disruption of carbohydrate metabolic process. tmpaxzxjjyw_mondo_relaxed.owl carbohydrate metabolic process disease|disorder of carbohydrate metabolic process|disorder of carbohydrate metabolism SCTID:20957000 owl:Class GO:0044248 biolink:NamedThing cellular catabolic process The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl cellular breakdown|cellular degradation|cellular catabolism owl:Class GO:0044237 biolink:NamedThing cellular metabolic process The chemical reactions and pathways by which individual cells transform chemical substances. tmpaxzxjjyw_mondo_relaxed.owl cellular metabolism|intermediary metabolism owl:Class HGNC:5010 biolink:NamedThing HMGA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018907 biolink:NamedThing craniopharyngioma A benign, partly cystic, epithelial tumor of the sellar region, presumably derived from Rathke pouch epithelium. It affects mainly children and young adults. There are two clinicopathological forms: adamantinomatous craniopharyngioma and papillary craniopharyngioma. The most significant factor associated with recurrence is the extent of surgical resection, with lesions greater than 5 cm in diameter carrying a markedly worse prognosis. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl craniopharyngioma (morphologic abnormality)|Dysodontogenic epithelial tumor|neoplasm of Rathke's pouch|craniopharyngeal duct tumor|Rathke's pouch tumor|craniopharyngioma (WHO grade I)|Rathke pouch neoplasm|Rathke's pouch neoplasm|craniopharyngioma, benign|Rathke pouch tumor|tumor of Rathke's pouch|cystoma|Adamantinomatous tumor SCTID:189179009|MedDRA:10011318|ICDO:9350/1|ICD10:D44.4|GARD:0010486|UMLS:C0010276|Orphanet:54595|DOID:3840|NCIT:C2964|EFO:1000209|MESH:D003397|ICD9:237.0 owl:Class MONDO:0002720 biolink:NamedThing sella turcica neoplasm A benign or malignant neoplasm that occurs in sella turcica. Representative examples include craniopharyngioma and pituitary gland adenoma. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of sella turcica|sella turcica tumor|sella turcica neoplasm|sellar neoplasm|tumor of the sella turcica|sellar tumor|neoplasm of the sella turcica|tumor of sella turcica|selt ONCOTREE:SELT|UMLS:C0748616|DOID:3643|NCIT:C4944 owl:Class MONDO:0014666 biolink:NamedThing hypomyelinating leukodystrophy 11 Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene. tmpaxzxjjyw_mondo_relaxed.owl POLR1C leukodystrophy|HLD11|leukodystrophy, hypomyelinating, type 11|leukodystrophy caused by mutation in POLR1C|hypomyelinating leukodystrophy type 11|leukodystrophy, hypomyelinating, 11 ICD10:G11.1|Orphanet:88637|UMLS:C4225305|OMIM:616494|DOID:0060792 owl:Class UBERON:0011877 biolink:NamedThing margin of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006800 biolink:NamedThing anatomical line tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001778 biolink:NamedThing ciliary epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:26873 biolink:NamedThing terpenoid Any isoprenoid that is a natural product or related compound formally derived from isoprene units. Terpenoids may contain oxygen in various functional groups. This class is subdivided according to the number of carbon atoms in the parent terpene. The skeleton of terpenoids may differ from strict additivity of isoprene units by the loss or shift of a fragment, generally a methyl group. tmpaxzxjjyw_mondo_relaxed.owl terpenoids|terpenoide|terpenoides|Terpenoid owl:Class CHEBI:24913 biolink:NamedThing isoprenoid Any lipid formally derived from isoprene (2-methylbuta-1,3-diene), the skeleton of which can generally be discerned in repeated occurrence in the molecule. The skeleton of isoprenoids may differ from strict additivity of isoprene units by loss or shift of a fragment, commonly a methyl group. The class includes both hydrocarbons and oxygenated derivatives. tmpaxzxjjyw_mondo_relaxed.owl isoprenoid|isoprenoids owl:Class UBERON:0010071 biolink:NamedThing layer of tympanic membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12649 biolink:NamedThing VAPB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005965 biolink:NamedThing spinal stenosis Narrowing of the spinal canal. tmpaxzxjjyw_mondo_relaxed.owl lumbar spinal stenosis|spinal stenosis of lumbar region|cervical spinal stenosis ICD9:724.09|ICD9:723.0|ICD10:M48.02|ICD10:M48.06|HP:0003416|ICD10:M48.0|EFO:0007490|ICD9:724.00|SCTID:76107001|MESH:D013130|ICD10:M48.00|DOID:6725 owl:Class MONDO:0000836 biolink:NamedThing disease of bone structure tmpaxzxjjyw_mondo_relaxed.owl bone structure disease DOID:0080010 owl:Class MONDO:0006734 biolink:NamedThing benign duodenal neoplasm A non-metastasizing neoplasm arising from the wall of the duodenum. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of duodenum|benign tumor of the duodenum|benign duodenal neoplasm|duodenal benign neoplasm|benign neoplasm of duodenum|benign neoplasm of the duodenum|duodenum benign neoplasm|benign duodenal tumor|neoplasm of the duodenum SCTID:92080005|MESH:D004379|DOID:1737|SCTID:126833009|MedDRA:10004251|EFO:1000907|NCIT:C4775|NCIT:C2995 MONDO:0021504 owl:Class MONDO:0016395 biolink:NamedThing foveal hypoplasia-presenile cataract syndrome tmpaxzxjjyw_mondo_relaxed.owl O'Donnell-Pappas syndrome Orphanet:2253|OMIM:136520|ICD10:H26.0|UMLS:C2931644|MESH:C537858 owl:Class NCBITaxon:5739 biolink:NamedThing Hexamitidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:6 ncbi_taxonomy owl:Class NCBITaxon:5738 biolink:NamedThing Diplomonadida tmpaxzxjjyw_mondo_relaxed.owl diplomonads GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030801 biolink:NamedThing monosomy 7 myelodysplasia and leukemia syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl M7MLS2|monosomy 7 myelodysplasia and leukemia syndrome 2 OMIM:619041 owl:Class MONDO:0031178 biolink:NamedThing monosomy 7 myelodysplasia and leukemia syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:252270 owl:Class FOODON:00001916 biolink:NamedThing grain based alcoholic beverage tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001579 biolink:NamedThing alcoholic beverage An alcoholic drink (or alcoholic beverage) is a drink that contains ethanol, a type of alcohol produced by fermentation of grains, fruits, or other sources of sugar. tmpaxzxjjyw_mondo_relaxed.owl SUBSET_SIREN:F10770 https://en.m.wikipedia.org/wiki/Alcoholic_drink Damion Dooley owl:Class MONDO:0042971 biolink:NamedThing congenital herpes virus infection An infectious embryofetopathy caused by infection with Herpesviridae. tmpaxzxjjyw_mondo_relaxed.owl Herpesviridae infectious embryofetopathy|congenital herpes virus infection|congenital infection caused by herpes virus|Herpesviridae caused infectious embryofetopathy SCTID:715337002|GARD:0002669|UMLS:C4275250|GARD:0002670 owl:Class MONDO:0005794 biolink:NamedThing Herpesviridae infectious disease Virus diseases caused by the herpesviridae. tmpaxzxjjyw_mondo_relaxed.owl infection, Herpesviridae|Herpesviridae infections|herpesvirus infection|Herpesviridae caused disease or disorder|Herpesviridae infection|infections, Herpesviridae|Herpesviridae disease or disorder|Herpesvirus infection|herpes infection|infection, Herpesvirus|Herpesvirus infections|infections, Herpesvirus SCTID:23513009|MESH:D006566|EFO:0007309 owl:Class GO:0018904 biolink:NamedThing ether metabolic process The chemical reactions and pathways involving organic ethers, any anhydride of the general formula R1-O-R2, formed between two identical or nonidentical organic hydroxy compounds. tmpaxzxjjyw_mondo_relaxed.owl organic ether metabolism|organic ether metabolic process|ether metabolism owl:Class HGNC:341 biolink:NamedThing AGXT tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0072525 biolink:NamedThing pyridine-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a pyridine-containing compound, i.e. any compound that contains pyridine or a formal derivative thereof. tmpaxzxjjyw_mondo_relaxed.owl pyridine and derivative biosynthetic process|pyridine-containing compound biosynthesis|pyridine-containing compound anabolism|pyridine-containing compound formation|pyridine-containing compound synthesis owl:Class GO:0072524 biolink:NamedThing pyridine-containing compound metabolic process The chemical reactions and pathways involving a pyridine-containing compound, i.e. any compound that contains pyridine or a formal derivative thereof. tmpaxzxjjyw_mondo_relaxed.owl pyridine-containing compound metabolism|pyridine and derivative metabolic process owl:Class MONDO:0001085 biolink:NamedThing interstitial nephritis Inflammation of the renal tubules and supporting tissues of the kidney. tmpaxzxjjyw_mondo_relaxed.owl renal tubulo-interstitial disease|Tubulointerstitial nephritis DOID:1063|ICD9:583.89|SCTID:28689008|UMLS:C0041349|ICD10:N12|UMLS:C0027707|NCIT:C26834|MESH:D009395 owl:Class MONDO:0013863 biolink:NamedThing combined immunodeficiency due to LRBA deficiency tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency, common variable, 8, with autoimmunity|combined immunodeficiency due to LRBA deficiency|CVID8|Cid due to LRBA deficiency Orphanet:1572|UMLS:C3553512|ICD10:D81.8|OMIM:614700|Orphanet:445018 owl:Class MONDO:0014443 biolink:NamedThing Bardet-Biedl syndrome 15 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene. tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome 15|Bardet-Biedl syndrome caused by mutation in WDPCP|WDPCP Bardet-Biedl syndrome|Bardet-Biedl syndrome type 15|BBS15 DOID:0110137|OMIM:615992|Orphanet:110|ICD10:Q87.89|UMLS:C3150127 owl:Class MONDO:0015229 biolink:NamedThing Bardet-Biedl syndrome A ciliopathy with multisystem involvement. It is invariantly characterized by rod-cone dystrophy, and at least three additional non-ocular features such as intellectual disability, obesity, polydactyly, hypogonadism, or renal anomalies as primary manifestations. In the absence of one of these four primary clinical features, the diagnosis of BBS is made when at least two secondary features are observed, including hepatic fibrosis, diabetes mellitus, reproductive and developmental abnormalities, growth retardation, speech delays, or cardiovascular problems tmpaxzxjjyw_mondo_relaxed.owl BBS|Bardet-Biedl syndrome OMIM:615992|OMIM:600151|Orphanet:110|OMIM:615995|OMIM:615984|OMIM:615982|OMIM:605231|OMIMPS:209900|ICD9:759.89|ICD10:Q87.89|OMIM:615993|MESH:D020788|OMIM:615994|OMIM:615990|OMIM:209900|OMIM:615988|NCIT:C118632|ICD10:Q87.8|OMIM:615981|UMLS:C0752166|OMIM:615986|GARD:0006866|OMIM:615985|SCTID:5619004|OMIM:615987|OMIM:615996|OMIM:617119|DOID:1935|OMIM:615983|OMIM:615991|MedDRA:10056715|OMIM:615989 owl:Class MONDO:0006446 biolink:NamedThing testicular embryonal carcinoma A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent. tmpaxzxjjyw_mondo_relaxed.owl embryonal carcinoma of the testis|testicular embryonal carcinoma|embryonal carcinoma of testis|testis embryonal carcinoma|embryonal testis carcinoma DOID:5680|EFO:1000565|UMLS:C0238448|NCIT:C6341 owl:Class MONDO:0003403 biolink:NamedThing testicular non-seminomatous germ cell cancer A classification of testicular cancers that arise in specialized sex cells called germ cells. Nonseminomas include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac tumor. tmpaxzxjjyw_mondo_relaxed.owl malignant testicular non-seminomatous germ cell neoplasm|testicular germ cell tumor non-seminomatous, malignant|malignant non-seminomatous germ cell tumor of the testis|testicular non-seminomatous malignant germ cell neoplasm|malignant non-seminomatous germ cell cancer of testis|malignant testicular non-seminomatous germ cell tumor|malignant non-seminomatous germ cell cancer of the testis|testicular non-seminomatous germ cell tumor, malignant|testicular non-seminomatous germ cell cancer|malignant non-seminomatous germ cell neoplasm of testis|malignant non-seminomatous germ cell neoplasm of the testis|malignant non-seminomatous germ cell tumor of testis NCIT:C5027|DOID:5345|UMLS:C1334625 Editor note: TODO owldef owl:Class MONDO:0009930 biolink:NamedThing pulmonary arteriovenous malformation Pulmonary arteriovenous malformation (PAVM) describes an anatomic communication between a pulmonary artery and a pulmonary vein leading to a right to left extracardiac shunt that can be asymptomatic or can lead to varying manifestations such as dyspnea, hemoptysis, and neurological symptoms. tmpaxzxjjyw_mondo_relaxed.owl PAVM|arteriovenous fistula of pulmonary vessels|pulmonary arterio-veinous fistula|pulmonary arteriovenous malformation|pulmonary AV fistula|pulmonary arteriovenous fistula|pulmonary arteriovenous malformation (disease)|pulmonar arteriovenous aneurysm|pulmonary arteriovenous fistulas pulmonary arteriovenous malformation (disease) 2022-04-01 NCIT:C99029|MedDRA:10037332|MESH:C562404|GARD:0004584|OMIM:265140|SCTID:303070000|ICD10:Q25.7|Orphanet:2038|UMLS:C0155675|HP:0006548 Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: HP:0006548 HP:0006548 owl:Class MONDO:0015221 biolink:NamedThing non-syndromic respiratory or mediastinal malformation A respiratory or mediastinal malformation that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl isolated respiratory or mediastinal malformation|nonsyndromic respiratory or mediastinal malformation Orphanet:108993 owl:Class MONDO:0012688 biolink:NamedThing cataract 17 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB1 gene. tmpaxzxjjyw_mondo_relaxed.owl cataract 17, multiple types, with or without microcornea|autosomal recessive congenital nuclear cataract 3|CATCN3|CTRCT17|cataract 17, multiple types|CRYBB1 early-onset non-syndromic cataract|cataract, congenital nuclear, autosomal recessive 3|early-onset non-syndromic cataract caused by mutation in CRYBB1 OMIM:611544|Orphanet:98991|MESH:C566923|Orphanet:91492|DOID:0110270|UMLS:C1969062|ICD10:Q12.0 owl:Class GO:0032350 biolink:NamedThing regulation of hormone metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving any hormone. tmpaxzxjjyw_mondo_relaxed.owl regulation of hormone metabolism owl:Class GO:1901021 biolink:NamedThing positive regulation of calcium ion transmembrane transporter activity Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transporter activity. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of calcium ion transmembrane transporter activity|activation of calcium ion transmembrane transporter activity|up regulation of calcium ion transmembrane transporter activity|upregulation of calcium ion transmembrane transporter activity owl:Class HP:0001249 biolink:NamedThing Intellectual disability Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. tmpaxzxjjyw_mondo_relaxed.owl Mental retardation, nonspecific|Low intelligence|Nonprogressive mental retardation|Mental retardation|Dull intelligence|Poor school performance|Nonprogressive intellectual disability|Intellectual disability|Mental deficiency|Mental-retardation UMLS:C4020876|UMLS:C3714756|UMLS:C0025362|SNOMEDCT_US:91138005|SNOMEDCT_US:228156007|UMLS:C0917816|SNOMEDCT_US:247578003|UMLS:C1843367|MSH:D008607|UMLS:C0423903 This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). HP:0002382|HP:0001286|HP:0002386|HP:0007180|HP:0003767|HP:0002192|HP:0002458|HP:0001267|HP:0002122|HP:0007154|HP:0002402|HP:0007176|HP:0002499|HP:0006877|HP:0002482|HP:0002543|HP:0002316|HP:0006833|HP:0000730 human_phenotype owl:Class HP:0011446 biolink:NamedThing Abnormality of higher mental function Cognitive, psychiatric or memory anomaly. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023352 peter 2012-03-18T04:23:59Z human_phenotype owl:Class MONDO:0021383 biolink:NamedThing neoplasm of floor of mouth A neoplasm (disease) that involves the mouth floor. tmpaxzxjjyw_mondo_relaxed.owl floor of mouth neoplasm|tumor of mouth floor|neoplasm of mouth floor|floor of the mouth neoplasm|mouth floor neoplasm (disease)|mouth floor neoplasm|tumor of the floor of the mouth|neoplasm of the floor of the mouth|mouth floor tumor|tumor of floor of mouth|floor of mouth tumor|floor of the mouth tumor NCIT:C4401|SCTID:126799003|UMLS:C0345538 owl:Class MONDO:0021223 biolink:NamedThing digestive system neoplasm A neoplasm (disease) that involves the digestive system. tmpaxzxjjyw_mondo_relaxed.owl gastrointestinal neoplasm|neoplasm of gastrointestinal system|tumor of gastrointestinal system|gastrointestinal system neoplasm|gastrointestinal tumor|GI neoplasm|digestive neoplasm|digestive system tumor|tumor of digestive system|neoplasm of GI system|digestive tumor|tumor of the GI system|neoplasm of the GI system|digestive system neoplasm (disease)|neoplasm of digestive system|GI system tumor|neoplasm of the digestive system|tumor of GI system|neoplasm of the gastrointestinal system|tumor of the digestive system|GI tumor|tumor of the gastrointestinal system|GI system neoplasm|gastrointestinal system tumor MESH:D005770|NCIT:C3052|EFO:0008549 owl:Class UBERON:0008998 biolink:NamedThing vasculature of brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class PO:0009084 biolink:NamedThing pericarp A portion of plant tissue (PO:0009007) that is the outer layer (wall) of a fruit (PO:0009001), and develops from a plant ovary (PO:0009072) or a carpel (PO:0009030) wall. tmpaxzxjjyw_mondo_relaxed.owl portion of pericarp tissue (exact)|pericarpo (Spanish, exact)|fruit rind (related)|果皮 (Japanese, exact)|fruit peel (related) PO_GIT:149|PO_GIT:511 Pericarp comprises endocarp (PO:0009086), mesocarp (PO:0009087), and exocarp (PO:0009085) layers, each of which can be fleshy or dry. If you are annotating to this term, please add an additional annotation to the specific type of fruit (PO:0009001), such as achene fruit (PO:0030107), berry fruit (PO:0030108), capsule fruit (PO:0030091), caryopsis fruit (PO:0030104), drupe fruit (PO:0030103), follicle fruit (PO:0030105), legume fruit (PO:0030100), nut fruit (PO:0030102), samara fruit (PO:0030099), schizocarp fruit (PO:0030098), silique fruit (PO:0030106), or their subclasses, depending on the species. plant_anatomy owl:Class FOODON:03420167 biolink:NamedThing fruit part The fleshy fruit of any plant. *FRUIT* includes vegetables berries and pods as well. The bulk of a fruit is its fleshy part, which is covered by a peel (skin) and which encloses a core, pit or seeds. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003218 biolink:NamedThing ovary septum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003037 biolink:NamedThing septum tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903523 biolink:NamedThing negative regulation of blood circulation Any process that stops, prevents or reduces the frequency, rate or extent of blood circulation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of hemolymph circulation|inhibition of hemolymph circulation|downregulation of blood circulation|down regulation of blood circulation|inhibition of blood circulation|down-regulation of hemolymph circulation|downregulation of hemolymph circulation|down-regulation of blood circulation|negative regulation of hemolymph circulation owl:Class GO:1903522 biolink:NamedThing regulation of blood circulation Any process that modulates the frequency, rate or extent of blood circulation. tmpaxzxjjyw_mondo_relaxed.owl regulation of hemolymph circulation owl:Class MONDO:0017363 biolink:NamedThing idiopathic chronic eosinophilic pneumonia Idiopathic chronic eosinophilic pneumonia (ICEP) is a very rare, severe, interstitial lung disease of insidious onset with subacute or chronic non-specific respiratory manifestations (dyspnea, cough, wheezing) often associated with systemic manifestations (fatigue, malaise, weight loss). tmpaxzxjjyw_mondo_relaxed.owl eosinophilic idiopathic chronic pneumopathy|chronic eosinophilic pneumonia (CEP)|Carrington's pulmonary eosinophilia|Carrington's disease|Carrington syndrome|chronic idiopathic eosinophilic pneumonia|chronic eosinophilic pneumonia GARD:0001130|MESH:C535590|Orphanet:2902|ICD10:J82 owl:Class MONDO:0015927 biolink:NamedThing idiopathic eosinophilic pneumonia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:182101|ICD10:J82|UMLS:C3872845|SCTID:708031000 owl:Class MONDO:0014527 biolink:NamedThing progeroid features-hepatocellular carcinoma predisposition syndrome tmpaxzxjjyw_mondo_relaxed.owl RUIJS-Aalfs syndrome|RJALS|Ruijs-Aalfs syndrome OMIM:616200|DOID:0111264|UMLS:C4015461|Orphanet:435953 owl:Class MONDO:0015356 biolink:NamedThing hereditary neoplastic syndrome The inherited predisposition toward getting a tumor. tmpaxzxjjyw_mondo_relaxed.owl hereditary cancer syndrome|hereditary cancer syndromes|familial tumor syndrome|neoplastic syndrome, hereditary|cancer syndrome, hereditary|hereditary tumor syndrome|syndromes, hereditary cancer|syndrome, hereditary cancer|hereditary neoplastic syndrome|inherited cancer-predisposing syndrome|cancer syndromes, hereditary|inherited cancer syndrome|syndromes, hereditary neoplastic|hereditary neoplastic syndromes|familial neoplastic syndrome|syndrome, hereditary neoplastic SCTID:699346009|UMLS:CN199448|MESH:D009386|UMLS:C0027672|Orphanet:140162|NCIT:C3266|UMLS:CN882908 owl:Class MONDO:0013729 biolink:NamedThing pregnancy loss, recurrent, susceptibility to, 3 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene. tmpaxzxjjyw_mondo_relaxed.owl pregnancy loss, recurrent, susceptibility to, type 3|pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5|pregnancy loss, recurrent, susceptibility to, 3|RPRGL3|ANXA5 pregnancy loss, recurrent, susceptibility OMIM:614391 owl:Class MONDO:0000144 biolink:NamedThing pregnancy loss, recurrent, susceptibility tmpaxzxjjyw_mondo_relaxed.owl See genetic heterogeneity of OMIM 614389. RPRGL4 exists only as and INCLUDED entity of OMIM 604759. owl:Class MONDO:0021181 biolink:NamedThing inherited blood coagulation disorder Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. tmpaxzxjjyw_mondo_relaxed.owl rare genetic coagulation disorder|inherited blood coagulation disease|hereditary blood coagulation disorders|coagulation disorder, inherited|inherited blood coagulation disorders|inherited coagulation disorders|hereditary coagulation disorders|coagulation disorders, hereditary|coagulation disorder, hereditary|coagulation disorders, inherited|hereditary coagulation disorder|hereditary blood coagulation disease|inherited coagulation disorder UMLS:CN226819|DOID:2214|Orphanet:183654|UMLS:C0852077|MESH:D025861 owl:Class MONDO:0008568 biolink:NamedThing thyroid hormone plasma membrane transport defect tmpaxzxjjyw_mondo_relaxed.owl thyroid hormone plasma membrane transport defect|thyroid hormone resistance due to T4 plasma Membrane Transport defect|hyperthyroxinemia, Eumetabolic, due to T4 plasma Membrane Transport|defect OMIM:188560|MESH:C536916|GARD:0008499|UMLS:C1861101 https://rarediseases.info.nih.gov/diseases/8499/thyroid-hormone-plasma-membrane-transport-defect owl:Class CHEBI:33261 biolink:NamedThing organosulfur compound An organosulfur compound is a compound containing at least one carbon-sulfur bond. tmpaxzxjjyw_mondo_relaxed.owl organosulfur compound|organosulfur compounds owl:Class CHEBI:36962 biolink:NamedThing organochalcogen compound An organochalcogen compound is a compound containing at least one carbon-chalcogen bond. tmpaxzxjjyw_mondo_relaxed.owl organochalcogen compound|organochalcogen compounds owl:Class MONDO:0001376 biolink:NamedThing urinary bladder anterior wall cancer tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of anterior wall of urinary bladder DOID:11814|UMLS:C0153611|ICD10:C67.3|SCTID:188242006|ICD9:188.3 owl:Class MONDO:0008023 biolink:NamedThing muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome This disorder is characterized by muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus. tmpaxzxjjyw_mondo_relaxed.owl muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus|Furukawa-Takagi-Nakao syndrome|muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus OMIM:158500|ICD9:728.2|Orphanet:2579|SCTID:237611007|GARD:0002417 https://rarediseases.info.nih.gov/diseases/2417/muscular-atrophy-ataxia-retinitis-pigmentosa-and-diabetes-mellitus owl:Class HGNC:882 biolink:NamedThing ATR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016685 biolink:NamedThing low-grade astrocytoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:251592|MedDRA:10065869 owl:Class MONDO:0019781 biolink:NamedThing astrocytoma (excluding glioblastoma) A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma. tmpaxzxjjyw_mondo_relaxed.owl astrocytoma MESH:D001254|ICDO:9400/3|SCTID:147101000119108|ONCOTREE:ASTR|NCIT:C60781|UMLS:C0004114 This class denotes astrocytomas proper which excludes GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 owl:Class MONDO:0010080 biolink:NamedThing familial infantile bilateral striatal necrosis The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. tmpaxzxjjyw_mondo_relaxed.owl familial IBSN|familial infantile striatonigral degeneration|hereditary infantile bilateral striatal necrosis|familial bilateral striatal necrosis|FBSN|SNDI|infantile bilateral striatal necrosis|bilateral striatal Necrosis, infantile|striatonigral degeneration, infantile|striatal degeneration, familial|familial infantile striatonigral necrosis UMLS:CN201303|UMLS:C0795996|ICD10:G23.2|Orphanet:225154|OMIM:500003|GARD:0010665|OMIM:271930|Orphanet:1576 https://rarediseases.info.nih.gov/diseases/10665/familial-bilateral-striatal-necrosis owl:Class MONDO:0015518 biolink:NamedThing infantile bilateral striatal necrosis Several syndromes of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. IBSN can be familial or sporadic. tmpaxzxjjyw_mondo_relaxed.owl infantile bilateral striatal necrosis|striatal degeneration familial|IBSN|infantile striatonigral degeneration|striatonigral degeneration infantile|SNDI|infantile striatonigral necrosis Orphanet:1576|SCTID:718174008|ICD10:G23.2|UMLS:C0795996|OMIM:500003|GARD:0005040|OMIM:271930 owl:Class UBERON:0007151 biolink:NamedThing mitral valve leaflet tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011741 biolink:NamedThing cardiac valve leaflet tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004015 biolink:NamedThing embryonic-extraembryonic boundary tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000015 biolink:NamedThing non-material anatomical boundary tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044406 biolink:NamedThing arthrogryposis-ectodermal dysplasia-other anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl Stoll-Alembik-Finck syndrome Orphanet:3200|OMIM:601701|GARD:0005029 owl:Class MONDO:0019287 biolink:NamedThing ectodermal dysplasia syndrome The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures. tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia|ectodermal dysplasia (select examples)|congenital ectodermal defect Orphanet:79373|OMIMPS:305100|MESH:D004476|DOID:2121|NCIT:C84683|SCTID:8654005|ICD9:757.31|UMLS:C0013575|MedDRA:10010452|GARD:0006317 owl:Class MONDO:0019679 biolink:NamedThing brachydactyly type A7 Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, of the little finger) and type D (shortening of the distal phalanx of the thumb) plus various additional features. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly Smorgasbord type|brachydactyly, Smorgasbord type Orphanet:93397|GARD:0000984|UMLS:CN206603|ICD10:Q73.8|SCTID:720571006 https://rarediseases.info.nih.gov/diseases/984/brachydactyly-type-a7 owl:Class MONDO:0021004 biolink:NamedThing brachydactyly A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly|brachydactyly (disease) brachydactyly (disease) HP:0001156|DOID:0050581|MESH:D059327 owl:Class HP:0025323 biolink:NamedThing Abnormal arterial physiology An anomaly of arterial function. tmpaxzxjjyw_mondo_relaxed.owl 2017-02-03 12:08:38+00:00 HPO:probinson human_phenotype owl:Class HP:0030163 biolink:NamedThing Abnormal vascular physiology Abnormality of vascular function. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4022603 human_phenotype owl:Class MONDO:0001188 biolink:NamedThing esophagus lymphoma An extranodal lymphoma that arises from the esophagus with the bulk of the mass located in the esophagus. Dysphagia may be the presenting symptom. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. tmpaxzxjjyw_mondo_relaxed.owl primary esophageal lymphoma|esophagus lymphoma|lymphoma of esophagus|esophageal lymphoma|lymphoma of the esophagus UMLS:C1333459|DOID:1106|NCIT:C5687 owl:Class MONDO:0004699 biolink:NamedThing gastrointestinal lymphoma A non-Hodgkin or Hodgkin lymphoma that arises from any part of the digestive system, with the bulk of the disease localized to that site. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of digestive system|digestive system lymphoma|gastrointestinal lymphoma|primary digestive system lymphoma|primary gastrointestinal lymphoma SCTID:449072004|UMLS:C0740372|DOID:903|ICD9:202.80|NCIT:C38162 owl:Class GO:0007143 biolink:NamedThing female meiotic nuclear division A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the female germline. tmpaxzxjjyw_mondo_relaxed.owl female meiotic division|female meiosis owl:Class GO:0000280 biolink:NamedThing nuclear division The division of a cell nucleus into two nuclei, with DNA and other nuclear contents distributed between the daughter nuclei. tmpaxzxjjyw_mondo_relaxed.owl karyokinesis owl:Class GO:0032103 biolink:NamedThing positive regulation of response to external stimulus Any process that activates, maintains or increases the rate of a response to an external stimulus. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of response to external stimulus|stimulation of response to external stimulus|activation of response to external stimulus|up regulation of response to external stimulus|upregulation of response to external stimulus owl:Class GO:0032101 biolink:NamedThing regulation of response to external stimulus Any process that modulates the frequency, rate or extent of a response to an external stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003663 biolink:NamedThing hindlimb muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007745 biolink:NamedThing Gilbert syndrome An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice. tmpaxzxjjyw_mondo_relaxed.owl hyperbilirubinemia, Arias type|hyperbilirubinemia type 1|Gilbert disease|Gilbert's syndrome|constitutional hyperbilirubinemia|hyperbilirubinemia 1|Gilbert-Meulengracht syndrome|Gilbert syndrome|hyperbilirubinemia, Gilbert type|hereditary nonhemolytic jaundice|familial cholemia|Gilbert's disease ICD10:E80.4|EFO:0005556|OMIM:143500|MESH:D005878|GARD:0006507|Orphanet:357|DOID:2739|NCIT:C84729|SCTID:27503000 owl:Class MONDO:0017531 biolink:NamedThing postaxial polydactyly type A, unilateral tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q69.0|UMLS:CN203262|Orphanet:295163 owl:Class MONDO:0019673 biolink:NamedThing postaxial polydactyly type A tmpaxzxjjyw_mondo_relaxed.owl PAPA|postaxial polydactyly type A|postaxial polydactyly type A (disease) postaxial polydactyly type A (disease) Orphanet:93334|UMLS:C3887487|ICD10:Q69.0|OMIM:615226|OMIM:608562|OMIM:174200|SCTID:715704001|OMIM:263450|HP:0005696|OMIM:602085|OMIM:607324 owl:Class MONDO:0030908 biolink:NamedThing intellectual disability, X-linked, syndromic, 35 tmpaxzxjjyw_mondo_relaxed.owl syndromic X-linked mental retardation 35|syndromic X-linked intellectual disability 35|mental retardation, X-linked, syndromic, 35|MRXS35|intellectual disability, X-linked, syndromic, 35 DOID:0080241|OMIM:300998|Orphanet:435938 owl:Class MONDO:0010625 biolink:NamedThing immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein tmpaxzxjjyw_mondo_relaxed.owl Gpl115 deficiency|immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein UMLS:C1839982|MESH:C564120|OMIM:308220 owl:Class MONDO:0003778 biolink:NamedThing primary immunodeficiency disease A disorder in which the immune system is unable to mount an adequate immune response. tmpaxzxjjyw_mondo_relaxed.owl immunological deficiency syndromes|antibody deficiency syndromes|hypoimmunity|deficiency syndromes, immunological|deficiency syndrome, immunologic|deficiency syndromes, immunologic|syndrome, immunologic deficiency|immune deficiency disorder|syndrome, antibody deficiency|syndrome, immunological deficiency|syndromes, immunological deficiency|immunologic deficiency syndrome|primary immunodeficiency|deficiency syndromes, antibody|immunodeficiency syndrome|deficiency syndrome, immunological|syndromes, antibody deficiency|deficiency syndrome, antibody|antibody deficiency syndrome|immunological deficiency syndrome|syndromes, immunologic deficiency KEGG:05340|SCTID:58606001|OMIM:242850|SCTID:234532001|Orphanet:101997|DOID:612|NCIT:C39725|MESH:D007153|UMLS:C0021051|ICD9:279.3|ICD10:D84.9|UMLS:C0398686|NCIT:C3131 owl:Class CL:0000513 biolink:NamedThing cardiac muscle myoblast A precursor cell destined to differentiate into cardiac muscle cell. tmpaxzxjjyw_mondo_relaxed.owl cardiomyocyte progenitor cell|cardiac muscle progenitor cell FMA:84797 CL:0000714 cell owl:Class CL:0000056 biolink:NamedThing myoblast A cell that is commited to differentiating into a muscle cell. Embryonic myoblasts develop from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. Myoblasts also occur as transient populations of cells in muscles undergoing repair. tmpaxzxjjyw_mondo_relaxed.owl FBbt:00005083|VHOG:0001529|BTO:0000222|CALOHA:TS-0650|FMA:70335 cell owl:Class ECTO:9000107 biolink:NamedThing exposure to solvent An exposure to solvent. tmpaxzxjjyw_mondo_relaxed.owl exposure to solvent owl:Class MONDO:0002116 biolink:NamedThing malignant exocrine pancreas neoplasm A malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of exocrine pancreas|exocrine pancreas cancer|pancreatic exocrine tumor|malignant exocrine pancreas tumor|cancer of exocrine pancreas|malignant neoplasm of the exocrine pancreas|malignant neoplasm of exocrine pancreas|malignant exocrine pancreas neoplasm|tumor of exocrine pancreas|malignant tumor of the exocrine pancreas SCTID:255088001|UMLS:C0345920|SCTID:254604005|NCIT:C7430|UMLS:C0346648|DOID:1795 owl:Class MONDO:0009831 biolink:NamedThing malignant pancreatic neoplasm A malignant neoplasm involving the pancreas. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of body of pancreas|malignant neoplasm of the pancreas|malignant neoplasm of pancreas|Ca body of pancreas|cancer of pancreas|malignant pancreatic neoplasm|malignant neoplasm of tail of pancreas|malignant pancreas neoplasm|malignant neoplasm of head of pancreas|Ca tail of pancreas|Ca head of pancreas|pancreas neoplasm|pancreas cancer|pancreatic cancer NCIT:C9005|MESH:D010190|Orphanet:1333|KEGG:05212|UMLS:C0235974|ICD9:157.8|ICD9:157.0|SCTID:126859007|EFO:1000359|DOID:1793|ICD9:157.1|ICD10:C25.9|ICD9:157.2 owl:Class MONDO:0019984 biolink:NamedThing renal tubular dysgenesis due to twin-twin transfusion 'Renal tubular dysgenesis due to twin-twin transfusion syndrome (TTTS) is an acquired form of renal tubular dysgenesis that develops in donor fetuses due to the uneven shunting of growth factor and nutrients to the kidney of the recipient and is characterized by absent or poorly developed proximal tubules, persistent oligohydramnios and consequently the Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects).' tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206914|Orphanet:97367|ICD10:Q63.8 owl:Class MONDO:0017609 biolink:NamedThing renal tubular dysgenesis Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl renotubular dysgenesis|primitive renal tubule syndrome GARD:0000379|OMIM:267430|SCTID:702397002|Orphanet:3033|ICD10:Q63.8 owl:Class ENVO:01001835 biolink:NamedThing alpine biome A biome which is subject to alpine altitudinal conditions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00000428 biolink:NamedThing biome A biome is an ecosystem to which resident ecological communities have evolved adaptations. tmpaxzxjjyw_mondo_relaxed.owl major habitat type|EcosytemType owl:Class GO:0046890 biolink:NamedThing regulation of lipid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. tmpaxzxjjyw_mondo_relaxed.owl regulation of lipid formation|regulation of lipid anabolism|regulation of lipid biosynthesis|regulation of lipogenesis|regulation of lipid synthesis owl:Class GO:0009889 biolink:NamedThing regulation of biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. tmpaxzxjjyw_mondo_relaxed.owl regulation of synthesis|regulation of anabolism|regulation of biosynthesis|regulation of formation owl:Class MONDO:0010198 biolink:NamedThing Wernicke-Korsakoff syndrome Wernicke-Korsakoff syndrome is a brain disorder, due to thiamine deficiency that has been associated with both Wernicke's encephalopathy and Korsakoff syndrome. The term refers to two different syndromes, each representing a different stage of the disease. Wernicke's encephalopathy represents the 'acute' phase and Korsakoff's syndrome represents the 'chronic' phase. However, they are used interchangeable in many sites. Wernicke's encephalopathy is characterized by confusion, abnormal stance and gait (ataxia), and abnormal eye movements (nystagmus). Korsakoff's syndrome is observed in a small number of patients. It is a type of dementia, characterized by memory loss and confabulation (filling in of memory gaps with data the patient can readily recall) and involvement of the heart, vascular, and nervous system. Wernicke-Korsakoff syndrome mainly results from chronic alcohol use, but also from dietary deficiencies, prolonged vomiting, eating disorders, systemic diseases (cancer, AIDS, infections), bariatric surgery, transplants, or the effects of chemotherapy. Studies indicate that there may be some genetic predisposition for the disease.Treatment involves supplementing the diet with thiamine. Wernicke encephalopathy is an acute syndrome and requires emergency treatment to prevent death and neurologic complications. In cases where the diagnosis is not confirmed, patients should still be treated while additional evaluations are completed. tmpaxzxjjyw_mondo_relaxed.owl transketolase defect|Wernicke encephalopathy|Korsakoff's psychosis|alcohol-induced encephalopathy|Korsakoff syndrome|Wernicke-Korsakoff syndrome|Korsakov's psychosis|Korsakov psychosis|Korsakoff's syndrome NCIT:C35764|EFO:1001242|MESH:C538669|SCTID:69482004|OMIM:277730|DOID:10915|MedDRA:10047913|GARD:0006843 Editor note: todo check https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome owl:Class MONDO:0006873 biolink:NamedThing nutritional deficiency disease A condition produced by dietary or metabolic deficiency. The term includes all diseases caused by an insufficient supply of essential nutrients, i.e., protein (or amino acids), vitamins, and minerals. It also includes an inadequacy of calories. (From Dorland, 27th ed; Stedman, 25th ed) tmpaxzxjjyw_mondo_relaxed.owl malnutrition|malnourished EFO:1001067|ICD9:269.8|MESH:D003677|ICD10:E40.E46|SCTID:70241007|ICD9:269.9|MedDRA:10046058|NCIT:C3669|DOID:5113|SCTID:363246002 owl:Class UBERON:0015036 biolink:NamedThing pedal digit metatarsal endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015063 biolink:NamedThing autopod endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022349 biolink:NamedThing congenital absence of septum pellucidum The absence of the septum pellucidum is a rare condition that affects the structure of the brain. Specifically, a thin membrane called the septum pellucidum is missing from its normal position in the middle of the brain. When it is missing, symptoms may include learning difficulties, behavioral changes, seizures, and changes in vision. Absence of the septum pellucidum is not typically seen as an isolated finding. Instead, absence of the septum pellucidum is associated with other conditions such as septo-optic dysplasia. Treatment options for the condition vary depending on the underlying disorder. Diagnosis of absence of the septum pellucidum can be made through imaging such as an MRI. Symptoms of absence of the septum pellucidum typically present during childhood, but a diagnosis can also be made before an individual is born (prenatally). If an individual is found to be missing the septum pellucidum, a search for an underlying disorder should be made. tmpaxzxjjyw_mondo_relaxed.owl absence of septum pellucidum MESH:C535562|GARD:0009253|SCTID:253143001|ICD9:742.4 Editor note: consider representing as finding https://rarediseases.info.nih.gov/diseases/9253/absence-of-septum-pellucidum owl:Class MONDO:0021147 biolink:NamedThing disorder of development or morphogenesis Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004071 biolink:NamedThing childhood cerebral astrocytoma An astrocytoma, without designation of benign or malignant, that is found in the supratentorial region. The infratentorial location is more common in children. tmpaxzxjjyw_mondo_relaxed.owl childhood astrocytic tumor of telencephalon|cerebral astrocytoma|childhood astrocytoma of cerebrum|pediatric astrocytoma of cerebrum|pediatric astrocytoma of the cerebrum|telencephalon childhood astrocytic tumor|pediatric cerebral astrocytoma|telencephalon juvenile astrocytoma|childhood astrocytoma of the cerebrum|cerebral astrocytoma, childhood MESH:D001254|GARD:0009302|UMLS:C0338070|NCIT:C4347|DOID:7007 https://rarediseases.info.nih.gov/diseases/9302/cerebral-astrocytoma-childhood owl:Class MONDO:0002505 biolink:NamedThing childhood astrocytic tumor An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location. tmpaxzxjjyw_mondo_relaxed.owl astrocytic tumors, childhood|astrocytic tumor|juvenile astrocytoma|childhood astrocytic tumour|juvenile astrocytoma (morphologic abnormality)|pediatric astrocytoma|childhood astrocytic neoplasm|astrocytic tumor of childhood|pediatric astrocytic tumor|childhood astrocytic tumor|pediatric astrocytic neoplasm UMLS:C1321865|DOID:3079|NCIT:C9022 owl:Class MONDO:0002556 biolink:NamedThing microcystic/reticular schwannoma The rarest histopathologic subtype of Schwannoma. The reported cases have been located in the gastrointestinal submucosa or subcutaneous tissue. Morphologically it is characterized by the presence of a microcyst-rich network of spindle cells with minimal amount of cytoplasm and Antoni A tissue. tmpaxzxjjyw_mondo_relaxed.owl microcystic/reticular schwannoma UMLS:C4054526|NCIT:C5321 owl:Class MONDO:0002546 biolink:NamedThing schwannoma A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported. tmpaxzxjjyw_mondo_relaxed.owl benign neurilemmoma|schwannoma (WHO grade I)|schwannoma, benign|neurinoma|psammomatous schwannoma|peripheral fibroblastoma|SCHW|neurilemmoma|schwannoma|benign schwannoma|neurolemmoma UMLS:C0027809|ONCOTREE:SCHW|SCTID:404022001|Orphanet:252164|MedDRA:10029234|EFO:0000693|NCIT:C3269|DOID:3192|ICD9:215.9|DOID:955|MedDRA:10029235|UMLS:CN202001|GARD:0004767|ICDO:9560/0 https://rarediseases.info.nih.gov/diseases/4767/schwannoma owl:Class GO:0004601 biolink:NamedThing peroxidase activity Catalysis of the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O. tmpaxzxjjyw_mondo_relaxed.owl japanese radish peroxidase|protoheme peroxidase|oxyperoxidase activity|lactoperoxidase activity|secretory plant peroxidase activity|donor:hydrogen-peroxide oxidoreductase activity|horseradish peroxidase (HRP)|heme peroxidase|peroxidase reaction|extensin peroxidase|bacterial catalase-peroxidase activity|pyrocatechol peroxidase|myeloperoxidase activity|thiocyanate peroxidase|verdoperoxidase|scopoletin peroxidase|MPO|eosinophil peroxidase activity|guaiacol peroxidase owl:Class GO:0016209 biolink:NamedThing antioxidant activity Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004822 biolink:NamedThing bronchiectasis Segmental, irreversible dilation of the bronchial tree resulting in the accumulation of secretions which leads to obstruction. The most common cause is bacterial infection. tmpaxzxjjyw_mondo_relaxed.owl Polynesian bronchiectasis SCTID:12295008|OMIM:211400|NCIT:C84475|ICD10:J47|ICD9:494|ICD10:J47.9|MESH:D001987|OMIM:613021|OMIMPS:211400|Orphanet:60033|DOID:9563|UMLS:C0006267|OMIM:613071 owl:Class GO:0001707 biolink:NamedThing mesoderm formation The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001704 biolink:NamedThing formation of primary germ layer The formation of the ectoderm, mesoderm and endoderm during gastrulation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1891762 biolink:NamedThing Human polyomavirus 1 tmpaxzxjjyw_mondo_relaxed.owl BK virus BKV|polyomavirus BK|BKV|BK virus|Polyomavirus hominis 1|Human polyomavirus (type BK)|Papovavirus BKV|Human polyomavirus BK|BK polyomavirus|Human polyomavirus BKV|human polyomavirus type BK BKV GC_ID:1 NCBITaxon:10629|NCBITaxon:10575|NCBITaxon:38015 ncbi_taxonomy owl:Class NCBITaxon:1891714 biolink:NamedThing Betapolyomavirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:476427 biolink:NamedThing Xenopsyllinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7511 biolink:NamedThing Pulicidae tmpaxzxjjyw_mondo_relaxed.owl common fleas GC_ID:1 ncbi_taxonomy owl:Class GO:0033343 biolink:NamedThing positive regulation of collagen binding Any process that activates or increases the frequency, rate or extent of collagen binding. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of collagen binding|activation of collagen binding|upregulation of collagen binding|up regulation of collagen binding|stimulation of collagen binding owl:Class GO:0051099 biolink:NamedThing positive regulation of binding Any process that activates or increases the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. tmpaxzxjjyw_mondo_relaxed.owl stimulation of binding|up-regulation of binding|activation of binding|up regulation of binding|upregulation of binding owl:Class HGNC:12782 biolink:NamedThing WNT3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012355 biolink:NamedThing manual acropodium region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012354 biolink:NamedThing acropodium region tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11138 biolink:NamedThing SNCA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014706 biolink:NamedThing cutis laxa, autosomal dominant 3 An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has material basis in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. tmpaxzxjjyw_mondo_relaxed.owl cutis laxa, autosomal dominant 3|cutis laxa, autosomal dominant type 3|autosomal dominant cutis laxa 3|ADCL3 UMLS:C4225268|OMIM:616603|DOID:0070131|ICD10:Q82.8 owl:Class MONDO:0019571 biolink:NamedThing autosomal dominant cutis laxa Autosomal dominant cutis laxa (ADCL) is a connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated in some cases with internal organ involvement. tmpaxzxjjyw_mondo_relaxed.owl ADCL|cutis laxa, autosomal dominant GARD:0001639|ICD10:Q82.8|DOID:0070142|Orphanet:90348|MESH:C562627|UMLS:C0268350|OMIM:616603|SCTID:111388003|OMIM:614434|OMIM:123700 https://rarediseases.info.nih.gov/diseases/1639/cutis-laxa-autosomal-dominant owl:Class GO:0044782 biolink:NamedThing cilium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpaxzxjjyw_mondo_relaxed.owl microtubule-based flagellum organization owl:Class GO:0120036 biolink:NamedThing plasma membrane bounded cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003865 biolink:NamedThing acral lentiginous melanoma A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells. tmpaxzxjjyw_mondo_relaxed.owl acral lentiginous melanoma (disease)|acral lentiginous malignant melanoma|acral lentiginous melanoma, malignant|subungual melanoma|acral melanoma|malignant acral lentiginous melanoma|acral lentiginous melanoma|acral lentiginous melanoma, malignant (morphologic abnormality)|acral lentiginous malignant melanoma of skin|palmar/plantar melanoma|ALM acral lentiginous melanoma (disease) ICDO:8744/3|SCTID:254732008|HP:0012060|UMLS:C0346037|GARD:0009570|NCIT:C4022|ONCOTREE:ACRM|DOID:6367 Editor note: check ONCOTREE mapping owl:Class MONDO:0008115 biolink:NamedThing Feingold syndrome type 1 Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies. tmpaxzxjjyw_mondo_relaxed.owl MYCN Feingold syndrome|FGLDS1|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1|MMT type 1|microcephaly-oculo-digito-esophageal-duodenal syndrome|Oded syndrome|Mmt syndrome|Brunner-Winter syndrome type 1|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|oculo-digito-esophageal-duodenal syndrome type 1|FS1|Feingold syndrome type 1|microcephaly-digital anomalies-normal intelligence syndrome type 1|microcephaly, intellectual disability, and tracheoesophageal fistula syndrome|microcephaly and digital abnormalities with normal intelligence|ODED syndrome type 1|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1|digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|Feingold syndrome|oculodigitoesophagoduodenal syndrome|Feingold syndrome 1|Feingold syndrome caused by mutation in MYCN|MODED syndrome type 1 UMLS:CN204984|ICD9:759.89|SCTID:702431004|Orphanet:391641|ICD10:Q87.8|Orphanet:1305|OMIM:164280 owl:Class MONDO:0015267 biolink:NamedThing Feingold syndrome Feingold syndrome (FS), also known as oculo-digito-esophageal-duodenal (ODED) syndrome, is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies and is comprised of two subtypes: FS type 1 (FS1) and FS type 2 (FS2). FS1 is by far the most common form while FS2 has only been reported in 3 patients and has the same clinical characteristics as FS1, apart from the absence of gastrointestinal atresia and short palpebral fissures. tmpaxzxjjyw_mondo_relaxed.owl digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|Brunner-Winter syndrome|FGLDS|oculo-digito-esophageal-duodenal syndrome|MODED syndrome|digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum|microcephaly-intellectual disability-tracheoesophageal fistula syndrome|FS|ODED syndrome|MMT|microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome|microcephaly-oculo-digito-esophageal-duodenal syndrome|microcephaly-digital anomalies-normal intelligence syndrome DOID:0060464|ICD10:Q87.8|Orphanet:1305|OMIM:164280|OMIM:614326|NCIT:C74987|OMIMPS:164280|GARD:0008407 owl:Class GO:1901663 biolink:NamedThing quinone biosynthetic process The chemical reactions and pathways resulting in the formation of quinone. tmpaxzxjjyw_mondo_relaxed.owl quinone anabolism|quinone biosynthesis|quinone formation|quinone synthesis|quinone cofactor biosynthetic process|quinone cofactor formation|quinone cofactor synthesis|quinone cofactor biosynthesis|quinone cofactor anabolism owl:Class GO:0042181 biolink:NamedThing ketone biosynthetic process The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. tmpaxzxjjyw_mondo_relaxed.owl ketone anabolism|ketone formation|ketone synthesis|ketone biosynthesis owl:Class MONDO:0030906 biolink:NamedThing Trichomonas tenax infectious disease An disease or disorder caused by infection with Trichomonas tenax. tmpaxzxjjyw_mondo_relaxed.owl Trichomonas tenax trichomoniasis|Trichomonas tenax caused disease or disorder|Trichomonas tenax disease or disorder DOID:0050270 owl:Class MONDO:0002154 biolink:NamedThing trichomoniasis An infection that is caused by Trichomonas. tmpaxzxjjyw_mondo_relaxed.owl infections, Trichomonas|Trichomonas infection ICD9:131|NCIT:C35720|ICD10:A59|MESH:D014245|ICD9:131.8|DOID:1947|UMLS:C0040921|SCTID:56335008|ICD10:A59.9|ICD9:131.9 owl:Class MONDO:0010518 biolink:NamedThing Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies. tmpaxzxjjyw_mondo_relaxed.owl eczema thrombocytopenia immunodeficiency syndrome|immunodeficiency 2|eczema-thrombocytopenia-immunodeficiency syndrome|Aldrich syndrome|WAS|Wiskott-Aldrich syndrome 1|Wiskott syndrome|Wiskott-Aldrich syndrome|Wiskott Aldrich syndrome|Imd 2 OMIM:301000|UMLS:C0043194|OMIM:614493|OMIM:600903|DOID:9169|MedDRA:10047992|NCIT:C3448|Orphanet:906|ICD10:D82.0|MESH:D014923|GARD:0007895|ICD9:279.12|SCTID:36070007 https://rarediseases.info.nih.gov/diseases/7895/wiskott-aldrich-syndrome owl:Class MONDO:0015131 biolink:NamedThing combined immunodeficiency A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern. tmpaxzxjjyw_mondo_relaxed.owl combined T cell and B cell immunodeficiency|combined immunodeficiency|congenital combined immunodeficiency|CID|combined T and B cell immunodeficiency|X-linked combined immunodeficiency ICD10:D81.2|OMIM:312863|NCIT:C27871|ICD10:D81.5|DOID:628|UMLS:C0494261|ICD10:D81.8|ICD10:D81.4|ICD10:D81.7|ICD10:D81.0|ICD10:D81.1|ICD10:D81.3|ICD9:279.2|Orphanet:101972|ICD10:D81|ICD10:D81.9|ICD10:D81.6 owl:Class HGNC:27561 biolink:NamedThing TSEN54 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003500 biolink:NamedThing squamous cell bile duct carcinoma A squamous cell carcinoma that involves the bile duct. tmpaxzxjjyw_mondo_relaxed.owl bile duct squamous cell carcinoma UMLS:C0861861|NCIT:C5777|DOID:5537 owl:Class MONDO:0007622 biolink:NamedThing flood factor deficiency tmpaxzxjjyw_mondo_relaxed.owl flood factor deficiency 2022-04-01 OMIM:136150|UMLS:C1851056|MESH:C565009 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class UBERON:0002298 biolink:NamedThing brainstem tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011642 biolink:NamedThing oral epithelium from ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010371 biolink:NamedThing ecto-epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021664 biolink:NamedThing cervical aortic arch tmpaxzxjjyw_mondo_relaxed.owl aortic arch syndrome Orphanet:99079|ICD10:Q25.4 Editor note: consider merging with MONDO:0017991 owl:Class MONDO:0015236 biolink:NamedThing aortic arch defects Congenital abnormalities of the aortic arch result from aberrant development of one or more components of the embyronic pharangeal arch system. Any component of tihs system can regress or persist abnormally, resulting in an extensive array of aortic arch anomalies. Clinically, they are classified by those that cause (or are likely to cause) physiolgogical abnormalities and those that do not. Physiologic abnormalities include tracheobronchial compression, esophageeal compression, and abnormal blood flow patteren. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:1132|GARD:0000741|ICD10:Q25.4 https://rarediseases.info.nih.gov/diseases/741/aortic-arches-defect owl:Class MONDO:0001771 biolink:NamedThing infective urethral stricture tmpaxzxjjyw_mondo_relaxed.owl ICD9:136.9|ICD9:598.01|SCTID:80375002|DOID:13658|ICD9:598.00 owl:Class MONDO:0002127 biolink:NamedThing urethral stricture Narrowing of any part of the urethra. It is characterized by decreased urinary stream and often other obstructive voiding symptoms. tmpaxzxjjyw_mondo_relaxed.owl urethral stricture (disease)|urethral stricture urethral stricture (disease) MESH:D014525|ICD9:598.8|UMLS:C0041974|SCTID:76618002|DOID:1829|HP:0012227|ICD9:598.9 owl:Class MONDO:0001339 biolink:NamedThing portal vein thrombosis The formation of a blood clot (thrombus) in the portal vein. tmpaxzxjjyw_mondo_relaxed.owl thrombotic disease of portal vein|portal vein thrombotic disease NCIT:C78565|SCTID:17920008|DOID:11695|ICD9:452|ICD10:I81|UMLS:C0155773 owl:Class MONDO:0002405 biolink:NamedThing hepatic vascular disorder A non-neoplastic or neoplastic vascular disorder that affects the liver. Representative examples include veno-occlusive disease, hemangioma, lymphangioma, and angiosarcoma. tmpaxzxjjyw_mondo_relaxed.owl hepatic vascular disorder|vascular disorder of liver|liver vascular disorder ICD9:573.8|SCTID:235878005|NCIT:C35442|UMLS:C0400923|DOID:272 owl:Class MONDO:0022018 biolink:NamedThing Borrone di Rocco Crovato syndrome tmpaxzxjjyw_mondo_relaxed.owl Borrone dermatocardioskeletal syndrome MESH:C536577|UMLS:C1859406|GARD:0000939 https://rarediseases.info.nih.gov/diseases/939/borrone-di-rocco-crovato-syndrome owl:Class HP:0000275 biolink:NamedThing Narrow face Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). tmpaxzxjjyw_mondo_relaxed.owl Decreased horizontal dimension of face|Horizontal hypoplasia of face|Transverse deficiency of face|Transverse insufficiency of face|Horizontal insufficiency of face|Thin facies|Horizontal deficiency of face|Decreased width of face|Narrow facies|Decreased transverse dimension of face|Decreased breadth of face|Transverse hypoplasia of face|Narrow face|Thin face UMLS:C1837463|UMLS:C1849121 Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. HP:0000318 human_phenotype owl:Class HP:0000274 biolink:NamedThing Small face A face that is short (HP:0011219) and narrow (HP:0000275). tmpaxzxjjyw_mondo_relaxed.owl Facial hypoplasia|Short and narrow face|Microfacies|Small face|Microface|Small facies|Hypoplasia of face UMLS:C1855538 This term represents a combination of two terms, short face and narrow face. human_phenotype owl:Class GO:0001964 biolink:NamedThing startle response An action or movement due to the application of a sudden unexpected stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050905 biolink:NamedThing neuromuscular process Any process pertaining to the functions of the nervous and muscular systems of an organism. tmpaxzxjjyw_mondo_relaxed.owl neuromuscular physiological process|neuromotor process owl:Class HGNC:6922 biolink:NamedThing MBL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010108 biolink:NamedThing testicular germ cell tumor A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. tmpaxzxjjyw_mondo_relaxed.owl spermatocytic seminoma|TGCT|endodermal sinus tumor|testicular germ cell cancer|germ cell tumor of the testis|testicular germ cell tumor|germ cell neoplasm of testis|testis germ cell tumor|Male germ cell tumor|embryonal cell carcinoma|germ cell neoplasm of the testis|seminoma|germ cell tumor of testis|teratoma, testicular|testicular germ cell neoplasm|testicular germ cell neoplasms|nonseminomatous germ cell tumors UMLS:C0014145|Orphanet:363483|SCTID:713577007|NCIT:C8591|OMIM:300228|Orphanet:363504|OMIM:273300|Orphanet:99865|GARD:0013047|UMLS:C1336708|MESH:C563236|ICD10:C62.1|Orphanet:363494|Orphanet:876|EFO:1000566|Orphanet:842|UMLS:C0334517|ICD9:239.5|DOID:5557 owl:Class MONDO:0018191 biolink:NamedThing tumor of testis and paratestis tmpaxzxjjyw_mondo_relaxed.owl testicular and paratesticular tumor UMLS:CN204698|Orphanet:363472 owl:Class MONDO:0009148 biolink:NamedThing Rosselli-Gulienetti syndrome A rare congenital ectodermal dysplasia syndrome with a range of signs and symptoms including cleft lip or palate, mental retardation and various forms of ectodermal dysplasia. Additional symptoms may include fused eyelids, absent nails, delayed bone growth and dry skin. It is believed that this syndrome follows an autosomal dominant pattern of inheritance with incomplete penetrance, and caused by a mutation affecting the TP63 gene tmpaxzxjjyw_mondo_relaxed.owl Rosselli-Gulienetti syndrome OMIM:225000|Orphanet:90339|MESH:C563117|UMLS:C0796139 https://github.com/monarch-initiative/mondo/issues/432 owl:Class MONDO:0007124 biolink:NamedThing ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate. tmpaxzxjjyw_mondo_relaxed.owl Rapp-Hodgkins syndrome|AEC syndrome|Seres-Santamaria Arimany Muniz syndrome|ankyloblepharon-ectodermal defects-cleft LIP/palate|ankyloblepharon ectodermal defects cleft lip/palate|hay-Wells syndrome|Aec syndrome|cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects|ankyloblepharon-ectodermal defects-cleft lip and palate syndrome OMIM:106260|GARD:0006571|SCTID:55821006|MESH:C535289|Orphanet:1071|DOID:0090119|MESH:C535847|ICD10:Q82.4|GARD:0004805 owl:Class MONDO:0006271 biolink:NamedThing low grade central osteosarcoma A low grade osteosarcoma arising from the medullary portion of the bone. It affects the long bones and is characterized by the presence of fibroblastic stroma and osteoid production. Pain and swelling are the usual sign and symptom. The prognosis is more favorable than conventional osteosarcoma. tmpaxzxjjyw_mondo_relaxed.owl low-grade central osteosarcoma|low-grade intramedullary osteosarcoma|low grade intramedullary osteosarcoma|intraosseous well-differentiated osteosarcoma|intraosseous well-differentiated osteogenic sarcoma|low grade central osteosarcoma UMLS:C3814534|ICDO:9187/3|ONCOTREE:LGCOS|NCIT:C6474|UMLS:C1266163|EFO:1000327 owl:Class MONDO:0009807 biolink:NamedThing osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. tmpaxzxjjyw_mondo_relaxed.owl osteosarcoma (disease)|osteosarcoma, malignant|osteogenic sarcoma|bone tissue neoplasm|osteosarcoma|osteoid sarcoma|sarcoma of osteoid osteosarcoma (disease) HP:0002669|EFO:0000637|ICDO:9180/3|DOID:3347|ONCOTREE:OS|SCTID:307576001|NCIT:C9145 owl:Class MONDO:0011521 biolink:NamedThing inflammatory bowel disease 7 An inflammatory bowel disease that has material basis in variation in the chromosome region 1p36. tmpaxzxjjyw_mondo_relaxed.owl IBD7|inflammatory bowel disease type 7|inflammatory bowel disease 7 UMLS:C1854573|OMIM:605225|MESH:C565353|DOID:0110882 owl:Class MONDO:0005265 biolink:NamedThing inflammatory bowel disease A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. tmpaxzxjjyw_mondo_relaxed.owl autoimmune bowel disorder|IBD|inflammatory bowel disease OMIM:612261|DOID:0050589|KEGG:05321|MESH:D015212|OMIM:612245|OMIM:608448|OMIM:612278|OMIM:612244|OMIM:611081|ICD9:558.9|EFO:0003767|OMIMPS:266600|UMLS:C0021390|NCIT:C3138|SCTID:24526004 owl:Class MONDO:0018030 biolink:NamedThing tetrasomy 9p Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism). tmpaxzxjjyw_mondo_relaxed.owl Mosaic tetrasomy 9p|Isochromosome 9p|tetrasomy of short arm of chromosome 9|tetrasomy type 9p|chromosome 9p tetrasomy UMLS:C0795832|MESH:C538027|SCTID:715530004|GARD:0000042|Orphanet:3310|ICD10:Q99.8 https://rarediseases.info.nih.gov/diseases/42/tetrasomy-9p owl:Class MONDO:0016946 biolink:NamedThing partial trisomy of the short arm of chromosome 9 Chromosome 9p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 9. tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of the short arm of chromosome type 9|partial duplication of chromosome 9p|9p duplication|chromosome 9p duplication|trisomy 9p|partial trisomy 9p|partial duplication of the short arm of chromosome 9|9p trisomy|partial trisomy of chromosome 9p|Duplication 9p 2022-04-01 UMLS:C0265428|GARD:0005364|Orphanet:262767 Reason: duplicate. This will be merged with MONDO:0016526 trisomy 9p owl:Class MONDO:0019485 biolink:NamedThing idiopathic hemiconvulsion-hemiplegia syndrome A rare acute encephalopathy with inflammation-mediated status epilepticus characterized by infancy-onset of refractory unilateral, mainly clonic status epilepticus during or shortly after a febrile episode without evidence of central nervous system infection, followed by permanent or transient hemiplegia with a minimum duration of one week. The majority of children develop pharmaco-resistant epilepsy a few months later. Brain imaging shows edematous swelling of the affected hemisphere at the time of the initial status, followed by hemiatrophy that does not correlate with any vascular territory. tmpaxzxjjyw_mondo_relaxed.owl hemiconvulsion-hemiplegia-epilepsy syndrome|IHHS|HHE syndrome ICD10:G40.4|Orphanet:86908|SCTID:230407006 owl:Class MONDO:0020071 biolink:NamedThing infantile epilepsy syndrome A epilepsy syndrome that occurs between 28 days to one year of life.. tmpaxzxjjyw_mondo_relaxed.owl infantile epilepsy syndrome|infantile onset epilepsy syndrome|epilepsy syndrome of infancy Orphanet:98258|ICD10:G40.4|UMLS:CN206975 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class CHEBI:35295 biolink:NamedThing homopolycyclic compound tmpaxzxjjyw_mondo_relaxed.owl homopolycyclic compounds owl:Class CHEBI:33635 biolink:NamedThing polycyclic compound tmpaxzxjjyw_mondo_relaxed.owl polycyclic compounds owl:Class GO:1901615 biolink:NamedThing organic hydroxy compound metabolic process The chemical reactions and pathways involving organic hydroxy compound. tmpaxzxjjyw_mondo_relaxed.owl organic hydroxy compound metabolism owl:Class GO:0033044 biolink:NamedThing regulation of chromosome organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a chromosome. tmpaxzxjjyw_mondo_relaxed.owl regulation of chromosome organization and biogenesis|regulation of chromosome organisation owl:Class UBERON:0004346 biolink:NamedThing gubernaculum (male or female) tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008845 biolink:NamedThing nonskeletal ligament tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:5103635 biolink:NamedThing pedal digit 5 digitopodial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:5106052 biolink:NamedThing digit 5 digitopodial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:106178 biolink:NamedThing canis group tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:943 biolink:NamedThing Ehrlichia tmpaxzxjjyw_mondo_relaxed.owl Cowdria|possibly "Donatienella" Rousselot 1948|Nicollea|Rickettsia (subgen. Ehrlichia)|Ehrlichia (subgen. Cowdria)|Kurlovia GC_ID:11|PMID:11414267|PMID:11760958 NCBITaxon:778 ncbi_taxonomy owl:Class MONDO:0006410 biolink:NamedThing simple endometrial hyperplasia A proliferation of endometrial cells resulting in glandular enlargement and budding without changes in the basic structure of the endometrium. Epithelial atypia may be present or absent. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0456483|EFO:1000525|SCTID:198324001|ICD9:621.31|NCIT:C35463 owl:Class MONDO:0005043 biolink:NamedThing hyperplasia An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. tmpaxzxjjyw_mondo_relaxed.owl hyperplastic|hyperplasia EFO:0000536|MESH:D006965|NCIT:C3113 owl:Class NCBITaxon:8287 biolink:NamedThing Sarcopterygii tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:117571 biolink:NamedThing Euteleostomi tmpaxzxjjyw_mondo_relaxed.owl bony vertebrates GC_ID:1 NCBITaxon:40673 ncbi_taxonomy owl:Class UBERON:0034711 biolink:NamedThing cortical preplate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014950 biolink:NamedThing layer of developing cerebral cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2732541 biolink:NamedThing Reovirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732459 biolink:NamedThing Resentoviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016008 biolink:NamedThing fetal hydantoin syndrome Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported. tmpaxzxjjyw_mondo_relaxed.owl phenytoin embryofetopathy|Dilantin embryopathy|phenytoin embryopathy|fetal dihydantoin syndrome ICD10:Q86.1|SCTID:70065001|NCIT:C98927|Orphanet:1912|ICD9:759.89|MedDRA:10016508|GARD:0006435|UMLS:C0265372|MESH:C537922 https://rarediseases.info.nih.gov/diseases/6435/fetal-hydantoin-syndrome owl:Class CL:0000362 biolink:NamedThing epidermal cell An epithelial cell of the integument (the outer layer of an organism). tmpaxzxjjyw_mondo_relaxed.owl epithelial cell of skin|cell of epidermis CALOHA:TS-0283|BTO:0001470|FMA:62411 CL:1000396 cell owl:Class CL:0002159 biolink:NamedThing general ecto-epithelial cell Epithelial cells derived from general body ectoderm and ectoderm placodes. tmpaxzxjjyw_mondo_relaxed.owl FMA:70556 tmeehan 2010-08-26T08:31:08Z cell owl:Class MONDO:0032581 biolink:NamedThing nephrotic syndrome, type 18 tmpaxzxjjyw_mondo_relaxed.owl NEPHROTIC SYNDROME, TYPE 18|NPHS18 DOID:0080393|OMIM:618177 owl:Class MONDO:0002350 biolink:NamedThing familial nephrotic syndrome An instance of nephrotic syndrome that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary nephrotic syndrome|congenital nephrotic syndrome ICD10:N04|OMIMPS:256300|SCTID:48796009|DOID:2590|NCIT:C35337|UMLS:CN043611|UMLS:C3501848 owl:Class MONDO:0008771 biolink:NamedThing amelogenesis imperfecta type 1G An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure. tmpaxzxjjyw_mondo_relaxed.owl amelogenesis imperfecta, type IG|amelogenesis imperfecta-nephrocalcinosis syndrome|enamel renal syndrome|generalized enamel hypoplasia and renal dysfunction|FAM20A amelogenesis imperfecta|enamel-renal-gingival syndrome|amelogenesis imperfecta hypoplastic type, IG|amelogenesis imperfecta and gingival fibromatosis syndrome|amelogenesis imperfecta type IG|amelogenesis imperfecta caused by mutation in FAM20A|amelogenesis imperfecta nephrocalcinosis|amelogenesis imperfecta and nephrocalcinosis|enamel-renal syndrome|amelogenesis imperfecta, hypoplastic, with nephrocalcinosis|amelogenesis imperfecta hypoplastic with nephrocalcinosis|ers|AIGFS|AI1G|amelogenesis imperfecta-gingival hyperplasia syndrome|absent enamel, nephrocalcinosis and apparently normal calcium metabolism GARD:0000646|OMIM:204690|OMIM:614253|UMLS:CN200302|ICD9:520.5|Orphanet:171836|ICD10:K00.5|GARD:0009860|Orphanet:1031|DOID:0110066|MESH:C538241|SCTID:109477002 https://github.com/monarch-initiative/mondo/issues/3537 owl:Class MONDO:0013674 biolink:NamedThing neurodegeneration with brain iron accumulation 4 Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities. tmpaxzxjjyw_mondo_relaxed.owl neurodegeneration with brain iron accumulation caused by mutation in C19orf12|mitochondrial membrane protein-associated neurodegeneration|C19orf12 neurodegeneration with brain iron accumulation|NBIA due to C19orf12 mutation|neurodegeneration with brain iron accumulation due to C19orf12 mutation|NBIA4|neurodegeneration with brain iron accumulation 4|neurodegeneration with brain iron accumulation type 4|mitochondrial Protein-associated neurodegeneration|MPAN ICD10:G23.0|Orphanet:289560|OMIM:614298|UMLS:C3280371|DOID:0110738|SCTID:709415008|ICD9:333.0|GARD:0012569 owl:Class MONDO:0015063 biolink:NamedThing duodenal neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the duodenum. tmpaxzxjjyw_mondo_relaxed.owl duodenal neuroendocrine tumor Orphanet:100076|UMLS:CN197356|NCIT:C135080 owl:Class MONDO:0019496 biolink:NamedThing neuroendocrine neoplasm Endocrine tumours, also referred to as neuroendocrine tumours (NETs), are defined by a common phenotype which is characterized by the expression of general markers (neuron specific enolase, chromogranin, synaptophysin) and hormone secretion products. These tumours may be localized in any part of the body and are generally discovered in non-specific situations, i.e. not immediately suggestive of NETs (tests for inherited predisposition to tumours or for a clinical syndrome caused by abnormal hormone secretion). tmpaxzxjjyw_mondo_relaxed.owl APUDoma|neuroendocrine neoplasm|neuroendocrine tumor UMLS:C0003650|Orphanet:877|UMLS:CN206284|NCIT:C3809|ICD10:D3A.8|ICD9:209-209.99|DOID:169|EFO:1001901|UMLS:C0206754|ICD9:239.7|SCTID:255046005|ICD9:209|MESH:D018358 Editor note: TODO design pattern, often NCIT uses 'neuroendocrine tumor' for particular grading with 'neuroendocrine neoplasm' as the superclass owl:Class CHEBI:36970 biolink:NamedThing vitamin B6 phosphate tmpaxzxjjyw_mondo_relaxed.owl vitamin B6 phosphates|vitamin B-6 phosphates owl:Class CHEBI:37734 biolink:NamedThing phosphoric ester tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100345 biolink:NamedThing lactose intolerance tmpaxzxjjyw_mondo_relaxed.owl LM - lactose malabsorption|lactase persistence|lactose intolerance|lactose intolerance (disease) lactose intolerance (disease) ICD9:271.3|ICD10:E73.9|OMIM:223100|ICD10:E73|HP:0004789|UMLS:C0022951|SCTID:267425008|EFO:1000062|NCIT:C3154|DOID:10604|Orphanet:319681 owl:Class UBERON:0001827 biolink:NamedThing secretion of lacrimal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000456 biolink:NamedThing secretion of exocrine gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003398 biolink:NamedThing mesentery of jejunum tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1224679 biolink:NamedThing Diphyllobothriidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6200 biolink:NamedThing Eucestoda tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:26739 biolink:NamedThing sphingolipid Sphingolipids are a complex family of compounds that share a common structural feature, a sphingoid base backbone. tmpaxzxjjyw_mondo_relaxed.owl sphingolipids owl:Class CHEBI:35352 biolink:NamedThing organonitrogen compound Any heteroorganic entity containing at least one carbon-nitrogen bond. tmpaxzxjjyw_mondo_relaxed.owl organonitrogen compounds|organonitrogens owl:Class HGNC:8850 biolink:NamedThing PEX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004550 biolink:NamedThing malignant cornea melanoma A melanoma within the cornea of the eye. tmpaxzxjjyw_mondo_relaxed.owl melanoma (disease) of cornea|corneal melanoma|cornea melanoma|malignant melanoma of the cornea|malignant cornea melanoma|melanoma of the cornea|malignant corneal melanoma|cornea melanoma (disease)|malignant melanoma of cornea|melanoma of cornea UMLS:C0346367|NCIT:C4553|DOID:8400 owl:Class MONDO:0003802 biolink:NamedThing cornea cancer A malignant neoplasm involving the cornea. tmpaxzxjjyw_mondo_relaxed.owl malignant corneal tumor|malignant cornea tumor|malignant tumor of cornea|malignant neoplasm of cornea|cancer of cornea|corneal tumor|malignant tumor of the cornea|malignant neoplasm of the cornea|malignant cornea neoplasm|malignant neoplasm of cornea (primary)|malignant corneal neoplasm|cornea cancer ICD9:190.4|NCIT:C4361|NCIT:C3565|UMLS:C0339304|SCTID:363464006|DOID:6199|ICD10:C69.1|UMLS:C0153629 owl:Class MONDO:0021076 biolink:NamedThing pancreatic exocrine neoplasm A benign or malignant neoplasm that arises from the epithelial cells of the exocrine pancreatic tissue. tmpaxzxjjyw_mondo_relaxed.owl exocrine pancreas neoplasm (disease)|pancreatic exocrine tumor|neoplasm of the exocrine pancreas|neoplasm of exocrine pancreas|exocrine pancreas neoplasm|pancreatic exocrine neoplasm|tumor of the exocrine pancreas|exocrine pancreas tumor|tumor of exocrine pancreas NCIT:C4445|UMLS:C0345920|SCTID:254604005|ICD9:235.5 owl:Class MONDO:0004964 biolink:NamedThing peripheral T-cell lymphoma, not otherwise specified Aggressive nodal or extranodal mature (peripheral) T-cell lymphomas that do not belong to the better defined entities of the remainder of mature T-cell lymphomas. This category includes the following variants: lymphoepithelioid cell variant (Lennert's lymphoma), follicular variant, and T-zone variant. tmpaxzxjjyw_mondo_relaxed.owl PTCL EFO:0000211|NCIT:C4340|ONCOTREE:PTCL owl:Class MONDO:0005169 biolink:NamedThing neoplasm of mature T-cells or NK-cells A group of neoplasms composed of T-lymphocytes with a mature (peripheral/post-thymic) immunophenotypic profile and/or NK-cells. tmpaxzxjjyw_mondo_relaxed.owl mature T and NK neoplasms|mature T-cell neoplasm|mature T-cell and NK-cell neoplasm ONCOTREE:MTNN|UMLS:C1334640|NCIT:C27909|EFO:0002426 owl:Class OBO:CHR_9606-chr2 biolink:NamedThing chromosome 2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 2 242193529 0 hg38 owl:Class MONDO:0002696 biolink:NamedThing Sertoli cell tumor A sex cord-stromal tumor of the testis or the ovary. It is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. It may be associated with Peutz-Jeghers syndrome. In males, the presenting symptom is a slow growing testicular mass. Most cases follow a benign clinical course. In females it may present with estrogenic or androgenic manifestations. The vast majority of cases have a benign clinical course. tmpaxzxjjyw_mondo_relaxed.owl tubular androblastoma|Sertoli cell tumor|tubular androblastoma NOS (morphologic abnormality) UMLS:C0036769|NCIT:C39976|DOID:3577|ICDO:8630/1|MESH:D012707|ICDO:8640/1 owl:Class MONDO:0006055 biolink:NamedThing sex cord-stromal tumor A neoplasm involving a sex cord. tmpaxzxjjyw_mondo_relaxed.owl Sex cord-stromal tumor|Sex cord-stromal tumor, no ICD-O subtype|sex cord-stromal tumor|malignant testicular sex cord-stromal tumor|Sex cord-stromal tumor, no ICD-O subtype (morphologic abnormality)|specialized gonadal tumor|specialized gonadal neoplasm NOS (morphologic abnormality)|sex cord tumor|specialized gonadal tumor (qualifier value)|specialized gonadal neoplasm|tumor of sex cord|sex cord-gonadal stromal tumor|Sex cord-stromal neoplasm|neoplasm of sex cord|Sex cord stromal tumour|sex cord neoplasm|specialized gonadal neoplasm (morphologic abnormality) NCIT:C3794|ICDO:8590/1|EFO:1000052|EFO:0007483|UMLS:C1515289|UMLS:C0206724|DOID:192 owl:Class MONDO:0012528 biolink:NamedThing hypogonadotropic hypogonadism 4 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROK2 gene. tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropic hypogonadism 4 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in PROK2|KAL4|HH4|PROK2 hypogonadotropic hypogonadism|Kallmann syndrome 4|Kallman syndrome 4 Orphanet:478|DOID:0090077|GARD:0010772|ICD10:E23.0|UMLS:C3552343|MESH:C565696|OMIM:610628 https://rarediseases.info.nih.gov/diseases/10772/kallmann-syndrome-4 owl:Class GO:0071073 biolink:NamedThing positive regulation of phospholipid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids. tmpaxzxjjyw_mondo_relaxed.owl upregulation of phospholipid biosynthetic process|positive regulation of phospholipid synthesis|stimulation of phospholipid biosynthetic process|up-regulation of phospholipid biosynthetic process|activation of phospholipid biosynthetic process|up regulation of phospholipid biosynthetic process|positive regulation of phospholipid anabolism|positive regulation of phospholipid biosynthesis|positive regulation of phospholipid formation owl:Class GO:0071071 biolink:NamedThing regulation of phospholipid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids. tmpaxzxjjyw_mondo_relaxed.owl regulation of phospholipid biosynthesis|regulation of phospholipid synthesis|regulation of phospholipid anabolism|regulation of phospholipid formation owl:Class UBERON:0005564 biolink:NamedThing gonad primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:33354 biolink:NamedThing Cimicomorpha tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33351 biolink:NamedThing Panheteroptera tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:15844 biolink:NamedThing HPS4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005030 biolink:NamedThing mucosa of paranasal sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100213 biolink:NamedThing IFAP syndrome with or without BRESHECK syndrome An X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome. tmpaxzxjjyw_mondo_relaxed.owl ichthyosis follicularis-atrichia-photophobia syndrome|IFAP syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia|ichthyosis follicularis atrichia photophobia syndrome|IFAP syndrome with or without BRESHECK syndrome|ichthyosis follicularis-alopecia-photophobia syndrome|IFAP/BRESHECK syndrome Orphanet:85284|UMLS:C1839988|GARD:0002952|OMIM:308205|Orphanet:2273|MESH:C536085 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100212 biolink:NamedThing IFAP syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:308205 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2114 owl:Class UBERON:0001871 biolink:NamedThing temporal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016526 biolink:NamedThing lobe of cerebral hemisphere tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000451 biolink:NamedThing primary progressive multiple sclerosis A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. tmpaxzxjjyw_mondo_relaxed.owl primary-progressive MS|PPMS DOID:0050784|MESH:D020528|EFO:0008520|SCTID:428700003|UMLS:C0751964 owl:Class MONDO:0005284 biolink:NamedThing chronic progressive multiple sclerosis A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914) tmpaxzxjjyw_mondo_relaxed.owl EFO:0003840|MESH:D020528|DOID:0050784|SCTID:230373008|DOID:0050783|UMLS:C0393665|DOID:0050785 owl:Class MONDO:0013361 biolink:NamedThing congenital prothrombin deficiency Congenital factor II deficiency is an inherited bleeding disorder due to reduced activity of factor II (FII, prothrombin) and characterized by mucocutaneous bleeding symptoms. tmpaxzxjjyw_mondo_relaxed.owl hypoprothrombinemia|factor 2 deficiency|congenital prothrombin deficiency|hereditary prothrombin deficiency|prothrombin deficiency|prothrombin deficiency, congenital|Dysprothrombinemia|congenital factor II deficiency|factor II deficiency MESH:D007020|NCIT:C131737|UMLS:C0020640|GARD:0002235|OMIM:613679|ICD10:D68.2|ICD9:286.3|Orphanet:325|DOID:2235|SCTID:73975000 https://rarediseases.info.nih.gov/diseases/2235/factor-2-deficiency owl:Class HP:0002087 biolink:NamedThing Abnormality of the upper respiratory tract An abnormality of the upper respiratory tract. tmpaxzxjjyw_mondo_relaxed.owl Upper respiratory tract issues|Abnormality of the upper respiratory tract UMLS:C4025727 human_phenotype owl:Class HP:0012252 biolink:NamedThing Abnormal respiratory system morphology A structural anomaly of the respiratory system. tmpaxzxjjyw_mondo_relaxed.owl Fyler:4235|UMLS:C4022992 peter 2013-04-07T09:11:09Z human_phenotype owl:Class MONDO:0009748 biolink:NamedThing hereditary sensory and autonomic neuropathy with spastic paraplegia This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with spastic paraplegia. tmpaxzxjjyw_mondo_relaxed.owl HSAN with spastic paraplegia|neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive|hereditary sensory and autonomic neuropathy with spastic paraplegia UMLS:C1850395|Orphanet:139578|OMIM:256840|UMLS:C4303565|MESH:C564948|SCTID:717827000|ICD10:G60.8 owl:Class MONDO:0004842 biolink:NamedThing stomatitis Inflammation of the oral mucosa due to local or systemic factors. tmpaxzxjjyw_mondo_relaxed.owl inflammation of mouth mucosa|mucositis oral|oral mucositis|mouth mucosa inflammation UMLS:C0038362|UMLS:C1568868|ICD9:528.0|SCTID:61170000|MESH:D013280|ICD9:528.00|ICD10:K12.1|DOID:9637|EFO:1001904|NCIT:C26887 owl:Class MONDO:0044992 biolink:NamedThing mouth mucosa disorder A disease or disorder that involves the mouth mucosa. tmpaxzxjjyw_mondo_relaxed.owl oral mucous membrane disease|disorder of mouth mucosa|disorder of oral mucous membrane|mouth mucosa disease or disorder|disease of mouth mucosa|disease or disorder of mouth mucosa UMLS:C1290071|SCTID:128046007 owl:Class MONDO:0019915 biolink:NamedThing maternal uniparental disomy of chromosome 14 Maternal uniparental disomy of chromosome 14 is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum). tmpaxzxjjyw_mondo_relaxed.owl maternal uniparental disomy of chromosome type 14|UPD(14)mat Orphanet:96184|ICD10:Q99.8 owl:Class UBERON:0002336 biolink:NamedThing corpus callosum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005340 biolink:NamedThing dorsal telencephalic commissure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018604 biolink:NamedThing familial colorectal cancer type X Hereditary nonpolyposis colorectal cancer characterized by the absence of germline mutations in DNA mismatch-repair genes. tmpaxzxjjyw_mondo_relaxed.owl FCCTX|familial colorectal cancer type X UMLS:CN237636|ICD10:C18.2|ICD10:C18.7|NCIT:C120084|ICD10:C18.6|ICD10:C18.5|ICD10:C18.1|UMLS:C3896578|ICD10:C18.3|Orphanet:440437|ICD10:C18.4|ICD10:C18.0 owl:Class MONDO:0010659 biolink:NamedThing FRAXE intellectual disability FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR. tmpaxzxjjyw_mondo_relaxed.owl FRAXE intellectual disability syndrome|intellectual disability, X-linked, associated with fragile site FRAXE|FRAXE syndrome|intellectual disability associated with fragile site FRAXE|fragile site, folic acid type|FRAXE intellectual disability|mental retardation, X-linked, associated with fragile site FRAXE|X-linked intellectual disability associated with fragile site FRAXE|fragile XE syndrome|FRAXE mental retardation syndrome|X-linked mental retardation associated with fragile site FRAXE UMLS:C0751157|GARD:0002378|Orphanet:100973|OMIM:309548|SCTID:716709002 https://rarediseases.info.nih.gov/diseases/2378/fragile-xe-syndrome owl:Class MONDO:0011120 biolink:NamedThing neural tube defects, folate-sensitive tmpaxzxjjyw_mondo_relaxed.owl spina bifida, folate-sensitive|NTD, folate-sensitive|neural tube defects, folate-sensitive|NTDFS OMIM:601634|Orphanet:823|Orphanet:268357|UMLS:C1866558 owl:Class MONDO:0019351 biolink:NamedThing isolated spina bifida A spina bifida (disease) that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl cleft spine|nonsyndromic spina bifida (disease)|open spine|isolated spina bifida (disease) ICD10:Q05.0|OMIM:301410|ICD10:Q05.2|ICD10:Q05.9|ICD10:Q05.6|MedDRA:10041524|OMIM:601634|ICD10:Q05.5|ICD10:Q05.3|ICD10:Q05.1|Orphanet:823|OMIM:182940|MESH:D016135|ICD10:Q05.8|ICD10:Q05.7|GARD:0007673|ICD10:Q05.4 owl:Class MONDO:0044817 biolink:NamedThing acquired idiopathic torsion dystonia An instance of idiopathic torsion dystonia that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired idiopathic torsion dystonia|non-Familial Idiopathic dystonia|idiopathic non-familial dystonia NCIT:C35438|SCTID:230321007 owl:Class CL:0002421 biolink:NamedThing nucleated reticulocyte A reticulocyte that retains the nucleus and other organelles. Found in birds, fish, amphibians and reptiles. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-10-15T09:24:05Z cell owl:Class CL:0000558 biolink:NamedThing reticulocyte An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-0864|BTO:0001173 cell owl:Class MONDO:0000601 biolink:NamedThing autoimmune disorder of urogenital tract A hypersensitivity reaction type II disease that involves the genitourinary system. tmpaxzxjjyw_mondo_relaxed.owl genitourinary system autoimmune disease|autoimmune disease of genitourinary system|genitourinary system hypersensitivity reaction type II disease DOID:0060049 owl:Class HGNC:14048 biolink:NamedThing MRPS16 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020311 biolink:NamedThing chronic myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement. tmpaxzxjjyw_mondo_relaxed.owl chronic myelomonocytic leukemia|chronic myelomonocytic leukemia (CMML)|CMML UMLS:C0023480|ONCOTREE:CMML|NCIT:C3178|ICD10:C93.1|MESH:D015477|DOID:0080188|MedDRA:10009018|GARD:0008225|ICDO:9945/3|Orphanet:98823|SCTID:127225006 owl:Class MONDO:0006311 biolink:NamedThing myelodysplastic/myeloproliferative Neoplasm A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation. tmpaxzxjjyw_mondo_relaxed.owl myelodysplastic myeloproliferative disease|MPD-MDS|myeloproliferative/myelodysplastic syndromes|myelodysplastic/myeloproliferative neoplasms|myelodysplastic/myeloproliferative Neoplasm|myelodysplastic myeloproliferative cancer|MDS-MPD|myeloproliferative/myelodysplastic disorders|myelodysplastic/myeloproliferative disorders|MDS/MPN|myelodysplastic/myeloproliferative disease|myelodysplastic/myeloproliferative disorder|myelodysplastic/myeloproliferative diseases|MPD/MDS|MDS/MPD ICDO:9975/3|DOID:4972|ONCOTREE:MDS%2FMPN|SCTID:445738007|EFO:1000388|NCIT:C27262 owl:Class MONDO:0012121 biolink:NamedThing otosclerosis 5 tmpaxzxjjyw_mondo_relaxed.owl otosclerosis 5|OTSC5 UMLS:C1837422|MESH:C563858|OMIM:608787 owl:Class MONDO:0100203 biolink:NamedThing parainfluenza virus type 1 infectious disease A disease caused by infection with parainfluenza virus type 1. tmpaxzxjjyw_mondo_relaxed.owl parainfluenza 1 infection|infection due to human parainfluenza virus 1|infection caused by human parainfluenza virus 1|human respirovirus 1 infectious disease OMOP:4248511 Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy. http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2063 owl:Class MONDO:0100197 biolink:NamedThing parainfluenza infectious disease A disease caused by infection with parainfluenza virus. There are four serotypes which cause respiratory illnesses in children and adults. tmpaxzxjjyw_mondo_relaxed.owl parainfluenza infectious disorder|human parainfluenza viruses infectious disorder|HPIV infectious disorder|human parainfluenza virus infectious disorder|parainfluenza (disorder) OMOP:4008269 Note - this is purposely unaxiomitized with an NCBI taxonomy term because it does not align with NCBI taxonomy. http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2063 owl:Class MONDO:0019880 biolink:NamedThing distal trisomy 5q Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism). tmpaxzxjjyw_mondo_relaxed.owl distal trisomy type 5q|trisomy 5qter|telomeric duplication 5q|distal duplication 5q SCTID:763274002|ICD10:Q92.3|Orphanet:96097 owl:Class MONDO:0016956 biolink:NamedThing partial trisomy of the long arm of chromosome 5 Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl partial trisomy 5q|trisomy 5q|partial duplication of the long arm of chromosome 5|Duplication 5q|5q duplication|partial trisomy of chromosome 5q|chromosome 5q duplication|partial duplication of chromosome 5q|5q trisomy|partial trisomy of the long arm of chromosome type 5 Orphanet:262869|UMLS:C1802398|GARD:0005351|MESH:C537650 owl:Class MONDO:0000969 biolink:NamedThing pleural lipoma A benign adipose tissue neoplasm of the pleural cavity. It may be purely intra-thoracic or extend to the chest wall. tmpaxzxjjyw_mondo_relaxed.owl pleural lipoma|pleura lipoma|lipoma of the pleura|lipoma of pleura UMLS:C1335434|DOID:10195|SCTID:2460001000004103|NCIT:C6644 owl:Class MONDO:0020649 biolink:NamedThing warty carcinoma of the penis A squamous cell carcinoma that arises from the penis. It is characterized by a papillary growth pattern, hyperkeratosis and parakeratosis. Koilocytotic atypia is present. Human papillomavirus types 16 and 6 have been identified in some cases. tmpaxzxjjyw_mondo_relaxed.owl condylomatous penile squamous cell carcinoma|warty penile squamous cell carcinoma|condylomatous carcinoma of penis|squamous cell carcinoma of the penis, warty type|condylomatous squamous cell carcinoma of the penis|warty carcinoma of penis|warty carcinoma of the penis|squamous cell carcinoma of penis, warty type|squamous cell carcinoma of penis, condylomatous type|squamous cell carcinoma of the penis, condylomatous type|warty squamous cell carcinoma of penis|condylomatous squamous cell carcinoma of penis|warty squamous cell carcinoma of the penis|condylomatous carcinoma of the penis NCIT:C6981|ONCOTREE:WPSCC owl:Class MONDO:0004433 biolink:NamedThing papillary carcinoma of the penis A squamous cell carcinoma that arises from the penis and is characterized by the presence of a papillary growth pattern. tmpaxzxjjyw_mondo_relaxed.owl papillary squamous carcinoma of penis|squamous carcinoma of penis, papillary type|papillary carcinoma of the penis|papillary penile squamous carcinoma|papillary squamous carcinoma of the penis|papillary penile carcinoma|squamous carcinoma of the penis, papillary type|papillary carcinoma of penis|penis papillary carcinoma DOID:8013|UMLS:C1335322|NCIT:C6983 owl:Class GO:0106015 biolink:NamedThing negative regulation of inflammatory response to wounding Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response to wounding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0106014 biolink:NamedThing regulation of inflammatory response to wounding Any process that modulates the frequency, rate or extent of the inflammatory response to wounding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0062014 biolink:NamedThing negative regulation of small molecule metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of a small molecule metabolic process. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of small molecule metabolism owl:Class OBO:CHR_9606-chr5q31.3 biolink:NamedThing 5q31.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 145100000 140100000 hg38 owl:Class GO:0002082 biolink:NamedThing regulation of oxidative phosphorylation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. tmpaxzxjjyw_mondo_relaxed.owl OXPHOS owl:Class MONDO:0004650 biolink:NamedThing malignant carotid body paraganglioma A carotid body paraganglioma that metastasizes to other anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl carotid body cancer|cancer of carotid body|malignant carotid body tumor|malignant carotid body neoplasm|chemodectoma, malignant|malignant neoplasm of carotid body|malignant carotid body tumor (morphologic abnormality)|malignant carotid body paraganglioma|malignant tumor of the carotid body|carotid body paraganglioma, malignant|malignant neoplasm of the carotid body|malignant tumor of carotid body DOID:8731|UMLS:C0153656|SCTID:447883002|ICD9:194.5|ICD10:C75.4|NCIT:C3574 owl:Class OBO:CHR_9606-chr19p13.13 biolink:NamedThing 19p13.13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 13800000 12600000 hg38 owl:Class GO:2000113 biolink:NamedThing negative regulation of cellular macromolecule biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of cellular macromolecule biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cellular macromolecule formation|negative regulation of cellular macromolecule anabolism|negative regulation of cellular macromolecule synthesis|negative regulation of cellular macromolecule biosynthesis|negative regulation of cellular biopolymer biosynthetic process owl:Class MONDO:0019375 biolink:NamedThing megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic. tmpaxzxjjyw_mondo_relaxed.owl megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome|MPPH syndrome|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus ICD10:Q04.8|Orphanet:83473|OMIM:603387|OMIM:615937|GARD:0010341|OMIM:615938|OMIMPS:603387|SCTID:722036008 owl:Class MONDO:0016349 biolink:NamedThing congenital hydrocephalus Hydrocephalus that is present at birth. tmpaxzxjjyw_mondo_relaxed.owl congenital hydrocephalus|HYC3 ICD10:Q03.9|OMIMPS:236600|OMIM:236600|MedDRA:10010506|ICD10:Q03.0|ICD10:Q03.8|ICD10:Q03.1|SCTID:47032000|ICD10:Q03|OMIM:615219|Orphanet:2185|NCIT:C98876|UMLS:C0020256 owl:Class UBERON:0003864 biolink:NamedThing middle phalanx of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001436 biolink:NamedThing phalanx of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:02500028 biolink:NamedThing planetary erosion An action of exogenic processes (such as water flow or wind) which remove environmental material from one part of a planet's crust, transporting it to another location where it is deposited. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001346 biolink:NamedThing erosion An action of exogenic processes (such as water flow or wind) which remove environmental material from one location on the surface of an astronomical body, transporting it to another location where it is deposited. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020606 biolink:NamedThing sex-linked disease tmpaxzxjjyw_mondo_relaxed.owl sex-linked hereditary disorder SCTID:82852009|ICD9:758.81 owl:Class MONDO:0006871 biolink:NamedThing non-gestational choriocarcinoma A highly malignant choriocarcinoma derived from the non-placental origin such as the totipotent cells in the testis, the ovary, and the pineal gland. It produces high levels of chorionic gonadotropin and can metastasize widely through the bloodstream to the lungs, brain, liver, bone, and other viscera by the time of diagnosis. tmpaxzxjjyw_mondo_relaxed.owl MESH:D031954|DOID:4320|UMLS:C1135873|EFO:1001064 owl:Class MONDO:0005207 biolink:NamedThing choriocarcinoma An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. tmpaxzxjjyw_mondo_relaxed.owl choriocarcinoma, malignant|chorioepithelioma|chorioblastoma|chorion carcinoma|choriocarcinoma (disease)|chorionic carcinoma|choriocarcinoma choriocarcinoma (disease) NCIT:C2948|ICD10:C58|DOID:3594|GARD:0006059|UMLS:C0008497|EFO:0002893|HP:0100768|SCTID:188188009|ICDO:9100/3|ONCOTREE:BCCA|MESH:D002822 Editor note: TODO check classification w.r.t carcinoma owl:Class HGNC:7067 biolink:NamedThing CIITA tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003187 biolink:NamedThing Breast hypoplasia Underdevelopment of the breast. tmpaxzxjjyw_mondo_relaxed.owl Underdeveloped breasts SNOMEDCT_US:8915006|UMLS:C0266013 HP:0000784 human_phenotype owl:Class HP:0010311 biolink:NamedThing Aplasia/Hypoplasia of the breasts Absence or underdevelopment of the breasts. tmpaxzxjjyw_mondo_relaxed.owl Absent/small breasts|Absent/underdeveloped breasts UMLS:C4023911 peter 2009-07-12T02:31:49Z human_phenotype owl:Class MONDO:0017879 biolink:NamedThing hantavirus pulmonary syndrome An infection caused by Hantaviruses. It manifests with flu-like symptoms but it rapidly progresses to life-threatening respiratory problems. tmpaxzxjjyw_mondo_relaxed.owl Hantavirus-associated respiratory distress syndrome|four corners hantavirus|HARDS|Hantavirus NCIT:C84747|MESH:D018804|DOID:14472|ICD10:J17.1*|MedDRA:10019143|UMLS:C0243025|GARD:0000069|SCTID:120639003|ICD9:480.8|ICD10:B33.4+|EFO:0007296|Orphanet:319247 owl:Class MONDO:0005275 biolink:NamedThing lung disorder A disease involving the lung. tmpaxzxjjyw_mondo_relaxed.owl lung disease|disorder of lung|pulmonary diseases|pulmonary disease|lung disorder|lung disease or disorder|pulmonary disorder|disease of lung|lung disorders|disease or disorder of lung|pulmonary disorders NCIT:C3198|SCTID:19829001|EFO:0003818|ICD9:518.89|DOID:850|MESH:D008171|ICD10:J98.4 owl:Class MONDO:0000107 biolink:NamedThing auriculocondylar syndrome Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress. tmpaxzxjjyw_mondo_relaxed.owl question mark ear|auriculo-condylar syndrome|ears prominent and constricted|question-mark ear syndrome|dysgnathia complex|question mark ear syndrome OMIM:612798|UMLS:C1865295|OMIM:614669|OMIMPS:602483|SCTID:702443003|OMIM:615706|GARD:0009798|OMIM:602483|Orphanet:137888|MESH:C538270|ICD10:Q75.8|UMLS:CN160484 owl:Class MONDO:0007500 biolink:NamedThing ear malformation tmpaxzxjjyw_mondo_relaxed.owl ear malformation|cup Ear ICD9:744.3|SCTID:275259005|OMIM:128600|ICD9:744.29 owl:Class GO:2000224 biolink:NamedThing regulation of testosterone biosynthetic process Any process that modulates the frequency, rate or extent of testosterone biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050810 biolink:NamedThing regulation of steroid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpaxzxjjyw_mondo_relaxed.owl regulation of steroidogenesis|regulation of steroid formation|regulation of steroid anabolism|regulation of steroid synthesis|regulation of steroid biosynthesis owl:Class MONDO:0002727 biolink:NamedThing olfactory nerve disorder A disease involving the olfactory nerve. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of olfactory nerve|disease of olfactory nerve|olfactory nerve disease|olfactory nerve disease or disorder|disorder of olfactory nerve|olfactory nerve disorder|disorder of olfactory [1st] nerve|disorder of the 1st nerve|disorder of 1st nerve ICD9:352.0|NCIT:C27210|DOID:367|ICD10:G52.0|MESH:D020431|UMLS:C0751937|SCTID:68982002 owl:Class UBERON:0016490 biolink:NamedThing auditory system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007037 biolink:NamedThing mechanosensory system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006745 biolink:NamedThing endometrioid stromal sarcoma A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. tmpaxzxjjyw_mondo_relaxed.owl stromal sarcoma, endometrial, malignant|ess|endometrial stromal sarcomas|endometrial stromal sarcoma, high grade|endometrioid stromal sarcoma|sarcomas, endometrial stromal|undifferentiated endometrial sarcoma|stromal sarcomas, endometrial|stromal sarcoma of the corpus uteri|stromal sarcoma, endometrial|endometrial stromal sarcoma SCTID:699356008|MedDRA:10048397|GARD:0006339|NCIT:C8973|ICD10:C54.1|MESH:D018203|UMLS:C2239246|DOID:4226|UMLS:C0206630|ICDO:8930/3|ONCOTREE:ESS|EFO:1000919|MedDRA:10057649|Orphanet:213711 https://rarediseases.info.nih.gov/diseases/6339/endometrial-stromal-sarcoma owl:Class MONDO:0011962 biolink:NamedThing endometrial cancer Primary or metastatic malignant neoplasm involving the endometrium (mucous membrane that lines the endometrial cavity). tmpaxzxjjyw_mondo_relaxed.owl malignant endometrium neoplasm|primary malignant neoplasm of endometrium|tumor of endometrium|cancer of endometrium|endometrium cancer|endometrial cancer|malignant endometrial neoplasm|endometrial Ca|malignant neoplasm of endometrium|endometrial neoplasm|neoplasm of endometrium KEGG:05213|OMIM:608089|ICD10:C54.1|EFO:0004230|DOID:1380|UMLS:C0476089|GARD:0011981|SCTID:123844007|NCIT:C3012|NCIT:C27815 owl:Class MONDO:0010414 biolink:NamedThing myopathy, reducing body, X-linked, early-onset, severe tmpaxzxjjyw_mondo_relaxed.owl reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset|RBMX1A|myopathy, reducing body, X-linked, early-onset, severe MESH:C567469|UMLS:C2678027|OMIM:300717|Orphanet:97239 owl:Class MONDO:0044321 biolink:NamedThing structural heart defects and renal anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl SHDRA|structural heart defects and renal anomalies syndrome OMIM:617478|UMLS:C4479549 owl:Class MONDO:0004156 biolink:NamedThing pancreatic mucinous cystadenocarcinoma A mucinous cystadenocarcinoma that involves the pancreas. tmpaxzxjjyw_mondo_relaxed.owl colloidal Cystadencarcinoma of pancreas|pancreatic colloid Cystadencarcinoma|colloidal Cystadencarcinoma of the pancreas|colloid Cystadencarcinoma of pancreas|pancreatic colloid cystadenocarcinoma|pancreatic colloidal Cystadencarcinoma|mucinous Cystadencarcinoma of the pancreas|colloid Cystadencarcinoma of the pancreas|mucinous Cystadencarcinoma of pancreas|pancreatic mucinous cystadenocarcinoma DOID:7234|NCIT:C5713|UMLS:C1335308 owl:Class MONDO:0002867 biolink:NamedThing pancreatic cystadenocarcinoma A cystic adenocarcinoma that arises from the pancreas. It includes the acinar cell and serous cystadenocarcinoma subtypes. tmpaxzxjjyw_mondo_relaxed.owl pancreatic cystadenocarcinoma|pancreas cystadenocarcinoma|cystadenocarcinoma - pancreas|cystadenocarcinoma of pancreas|cystadenocarcinoma of the pancreas NCIT:C3874|DOID:4073|SCTID:235966007|UMLS:C0238337 owl:Class HGNC:9016 biolink:NamedThing PKHD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007991 biolink:NamedThing microcephaly-deafness-intellectual disability syndrome Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl syndrome of microcephaly, deafness/malformed ears, intellectual disability and peculiar facies|microcephaly-deafness syndrome|microcephaly deafness syndrome|Kawashima-Tsuji syndrome|Kawashima Tsuji syndrome|syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies GARD:0000230|Orphanet:2533|ICD10:Q87.8|MESH:C537326|SCTID:716112005|UMLS:C0796062|OMIM:156620 owl:Class MONDO:0100361 biolink:NamedThing lip herpes simplex type 1 infectious disorder Any herpes simplex type 1 infectious disease that involves the lip. This virus usually responsible for cold sores (herpes labialis). tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0100359 biolink:NamedThing herpes simplex type 1 infectious disease A disease caused by infection with herpes simplex type 1. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class HGNC:15865 biolink:NamedThing KIZ tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:3000000 biolink:NamedThing exposure to organism A history of exposure to root. tmpaxzxjjyw_mondo_relaxed.owl root exposure owl:Class MONDO:0002544 biolink:NamedThing brain oligodendroglioma A oligodendroglioma that involves the brain. tmpaxzxjjyw_mondo_relaxed.owl brain oligodendroglioma|oligodendroglioma of brain|oligodendroglioma of the brain DOID:3187|UMLS:C0346286|NCIT:C9377|SCTID:254940005 owl:Class MONDO:0016695 biolink:NamedThing oligodendroglioma A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl oligodendroglioma|WHO grade II oligodendroglial neoplasm|oligodendroglial neoplasm|well differentiated oligodendroglial tumor|WHO grade II oligodendroglial tumor|well differentiated oligodendroglioma|oligodendroglial tumor ONCOTREE:ODG|NCIT:C3288|GARD:0009953|OMIM:616568|MedDRA:10030286|UMLS:C1335110|Orphanet:251627|ICDO:9450/3|DOID:3181|NCIT:C6960|ICD10:C79.1|MESH:D009837|OMIM:137800|ICD10:C71.9 owl:Class UBERON:0004332 biolink:NamedThing proximal phalanx of pedal digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014501 biolink:NamedThing proximal phalanx of digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17043 biolink:NamedThing NIPA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011969 biolink:NamedThing ALG8-CDG A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation. tmpaxzxjjyw_mondo_relaxed.owl ALG8-CDG (CDG-Ih)|CDG syndrome type Ih|CDG1H|carbohydrate deficient glycoprotein syndrome type Ih|congenital disorder of glycosylation, type Ih|CDG-Ih|CDG 1H|congenital disorder of glycosylation type 1h|CDG Ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type Ih Orphanet:79325|GARD:0009834|MESH:C535746|UMLS:C2931002|ICD10:E77.8|OMIM:608104|SCTID:720977000|DOID:0080560 owl:Class UBERON:4200172 biolink:NamedThing neck of humerus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001560 biolink:NamedThing neck of organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013620 biolink:NamedThing congenital myasthenic syndrome 16 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene. tmpaxzxjjyw_mondo_relaxed.owl myasthenic syndrome, congenital, 16|congenital myasthenic syndrome type 16|congenital myasthenic syndrome acetazolamide-responsive|CMS16|SCN4A congenital myasthenic syndrome|myasthenic syndrome, congenital, type 16|congenital myasthenic syndrome caused by mutation in SCN4A|myasthenic syndrome, congenital, Acetazolamide-responsive Orphanet:98913|Orphanet:590|DOID:0110682|OMIM:614198 owl:Class UBERON:0035005 biolink:NamedThing preputial swelling of male tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035004 biolink:NamedThing preputial swelling tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001807 biolink:NamedThing regulation of type IV hypersensitivity Any process that modulates the frequency, rate, or extent of type IV hypersensitivity, a type of inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002883 biolink:NamedThing regulation of hypersensitivity Any process that modulates the frequency, rate, or extent of hypersensitivity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009458 biolink:NamedThing Schimke immuno-osseous dysplasia Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome. tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia nephrotic syndrome|Schimke Immunoosseous dysplasia|Schimke syndrome|Schimke immuno-osseous dysplasia|SIOD|spondyloepiphyseal dysplasia - nephrotic syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome|Schimke immunoosseous dysplasia|Schimke IMMUNOOSSEOUS dysplasia|IMMUNOOSSEOUS dysplasia, Schimke type|immunoosseous dysplasia Schimke type DOID:0060490|SCTID:723995003|MESH:C536629|UMLS:C0877024|MedDRA:10048699|GARD:0004984|ICD10:Q77.7|Orphanet:1830|NCIT:C135087|OMIM:242900 owl:Class MONDO:0021522 biolink:NamedThing benign neoplasm of lower jaw bone A benign neoplasm that involves the bone of lower jaw. tmpaxzxjjyw_mondo_relaxed.owl bone of lower jaw benign neoplasm SCTID:92208007|UMLS:C0004994|ICD9:213.1|NCIT:C34417|ICD10:D16.5 owl:Class MONDO:0021580 biolink:NamedThing neoplasm of jaw A neoplasm (disease) that involves the jaw skeleton. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of jaw skeleton|jaw skeleton neoplasm (disease)|tumor of jaw skeleton|jaw skeleton tumor|jaw skeleton neoplasm SCTID:126634001|ICD9:239.89 owl:Class MONDO:0002981 biolink:NamedThing peripheral primitive neuroectodermal tumor of bone A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain. tmpaxzxjjyw_mondo_relaxed.owl osseous peripheral neuroepithelioma|peripheral neuroectodermal tumor of the bone|bone peripheral neuroepithelioma|peripheral neuroectodermal tumor of bone|peripheral primitive neuroectodermal tumor of bone|peripheral primitive neuroectodermal tumor of bone tissue|peripheral neuroepithelioma of the bone|peripheral neuroepithelioma of bone|bone tissue peripheral primitive neuroectodermal tumor UMLS:C0855009|NCIT:C8776|DOID:4388 owl:Class MONDO:0018271 biolink:NamedThing peripheral primitive neuroectodermal tumor A small round cell tumor with neural differentiation arising from the soft tissues or bone. tmpaxzxjjyw_mondo_relaxed.owl pPNET|peripheral neuroectodermal neoplasm|peripheral neuroectodermal tumor|peripheral neuroepithelioma|PPNET|peripheral primitive neuroectodermal neoplasm|peripheral PNET|peripheral primitive neuroectodermal tumor Orphanet:370348|ICD10:C71.9|ICDO:9364/3|UMLS:C3489398|UMLS:C0684337|NCIT:C9341 Other ontologies classify peripheral neuroepithelioma as a seprate class but NCIT treats these as synonyms and we aim to follow NCIT here. (See HP:0006717, SNOMED:254764001, the "included" disease concept on OMIM:612219, and UMLS:C3489398). https://github.com/monarch-initiative/mondo/issues/4039 owl:Class HGNC:8996 biolink:NamedThing PIP5K1C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000468 biolink:NamedThing third-degree atrioventricular block A disorder characterized by an electrocardiographic finding of complete failure of atrial electrical impulse conduction to the ventricles. This is manifested on the ECG by disassociation of atrial and ventricular rhythms. The atrial rate must be faster than the ventricular rate. (CDISC) tmpaxzxjjyw_mondo_relaxed.owl non-congenital complete atrioventricular block|AV block third degree|atrioventricular block, third degree|complete heart block|atrioventricular block complete|complete atrioventricular block|third degree atrioventricular block|third degree AV block|complete AV block NCIT:C50501|SCTID:27885002|DOID:0050823|UMLS:C0151517|ICD9:426.0 owl:Class MONDO:0000465 biolink:NamedThing atrioventricular block A heart block that is initiated in the atrioventricular node. tmpaxzxjjyw_mondo_relaxed.owl atrioventricular block (disease)|AVB|AV nodal block|AV block|atrioventricular block atrioventricular block (disease) ICD10:I44.30|NCIT:C26703|MESH:D054537|HP:0001678|ICD10:I44.3|SCTID:233917008|ICD9:426.10|UMLS:C0004245|DOID:0050820 owl:Class MONDO:0009350 biolink:NamedThing Holzgreve-Wagner-Rehder syndrome A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. tmpaxzxjjyw_mondo_relaxed.owl Holzgreve syndrome|Complex congenital heart defect, renal agenesis and cleft lip and palate|cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome|Holzgreve Wagner Rehder syndrome OMIM:236110|ICD10:Q87.8|Orphanet:2167|DOID:0060566|UMLS:C1856095|GARD:0002728|MESH:C535327 owl:Class MONDO:0015335 biolink:NamedThing orofacial clefting syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199365|Orphanet:139039 owl:Class GO:0045822 biolink:NamedThing negative regulation of heart contraction Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction. tmpaxzxjjyw_mondo_relaxed.owl downregulation of heart contraction|inhibition of heart contraction|down-regulation of heart contraction|negative regulation of cardiac contraction|down regulation of heart contraction owl:Class GO:0008016 biolink:NamedThing regulation of heart contraction Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. tmpaxzxjjyw_mondo_relaxed.owl regulation of cardiac contraction owl:Class UBERON:0003620 biolink:NamedThing manual digit 1 phalanx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024572 biolink:NamedThing immunodeficiency-related disorder A non-neoplastic or neoplastic disorder that develops in a patient with immunodeficiency. Representative examples include AIDS-related disorders and disorders that develop following organ transplantation. tmpaxzxjjyw_mondo_relaxed.owl Immunosuppression disorders|Immunosuppression-related disorder|Immunodepression-related disorder|immunodeficiency-related disorder NCIT:C35686|UMLS:C1334159 owl:Class MONDO:0014626 biolink:NamedThing spinocerebellar ataxia type 41 Spinocerebellar ataxia type 41 is a rare autosomal dominant cerebellar ataxia type III disorder characterized by adult-onset progressive imbalance and loss of coordination associated with an ataxic gait. Mild atrophy of the cerebellar vermis has been reported on brain magnetic resonance imaging. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia 41|SCA41|spinocerebellar ataxia type 41 ICD10:G11.2|EFO:0009058|DOID:0111744|UMLS:C4225158|Orphanet:458798|OMIM:616410 owl:Class MONDO:0019793 biolink:NamedThing autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar ataxia (ACDA) type III is a group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant cerebellar ataxia type 3|Pure cerebellar syndrome-mild pyramidal signs syndrome|autosomal dominant cerebellar ataxia type III|ADCAIII|ADCA3 Orphanet:94148|ICD10:G11.8|UMLS:CN206746 owl:Class UBERON:0004103 biolink:NamedThing alveolar ridge tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010314 biolink:NamedThing structure with developmental contribution from neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014538 biolink:NamedThing subdivision of spinal cord central canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004111 biolink:NamedThing anatomical conduit tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004855 biolink:NamedThing tenosynovitis Inflammation of the synovial lining of a tendon sheath. Causes include trauma, tendon stress, bacterial disease (gonorrhea, tuberculosis), rheumatic disease, and gout. Common sites are the hand, wrist, shoulder capsule, hip capsule, hamstring muscles, and Achilles tendon. The tendon sheaths become inflamed and painful, and accumulate fluid. Joint mobility is usually reduced. tmpaxzxjjyw_mondo_relaxed.owl inflammation of tendon sheath|Inflammation of tendon sheath|Tenosynovitides|tendon sheath inflammation MESH:D013717|EFO:1001435|SCTID:67801009|DOID:970|UMLS:C0039520 owl:Class MONDO:0016852 biolink:NamedThing paternal uniparental disomy of chromosome X tmpaxzxjjyw_mondo_relaxed.owl UPD(X)pat|paternal uniparental disomy of chromosome type X ICD10:Q99.8|Orphanet:261524 owl:Class NCBITaxon:7962 biolink:NamedThing Cyprinus carpio tmpaxzxjjyw_mondo_relaxed.owl koi|fancy carp|mirror carp|carp|common carp GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7961 biolink:NamedThing Cyprinus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0033003 biolink:NamedThing regulation of mast cell activation Any process that modulates the frequency, rate, or extent of mast cell activation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002793 biolink:NamedThing positive regulation of peptide secretion Any process that activates or increases the frequency, rate, or extent of peptide secretion. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of peptide secretion|activation of peptide secretion|up regulation of peptide secretion|upregulation of peptide secretion|stimulation of peptide secretion owl:Class CHEBI:33229 biolink:NamedThing vitamin A biochemical role played by any micronutrient that is an organic compound. Vitamins are present in foods in small amounts and are essential to normal metabolism and biochemical functions, usually as coenzymes. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. tmpaxzxjjyw_mondo_relaxed.owl vitamines|vitamine|Vitamin|vitamins|vitaminum|vitamina|vitaminas owl:Class CHEBI:27027 biolink:NamedThing micronutrient Any nutrient required in small quantities by organisms throughout their life in order to orchestrate a range of physiological functions. tmpaxzxjjyw_mondo_relaxed.owl micronutrients|trace elements owl:Class CHEBI:18405 biolink:NamedThing pyridoxal 5'-phosphate The monophosphate ester obtained by condensation of phosphoric acid with the primary hydroxy group of pyridoxal. tmpaxzxjjyw_mondo_relaxed.owl pyridoxal 5'-(dihydrogen phosphate)|(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl dihydrogen phosphate|Pyridoxal 5-phosphate|Phosphoric acid mono-(4-formyl-5-hydroxy-6-methyl-pyridin-3-ylmethyl) ester|codecarboxylase|Pyridoxal 5'-phosphate|3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate|PLP|PYRIDOXAL-5'-PHOSPHATE|pyridoxal 5-monophosphoric acid ester|3-hydroxy-2-methyl-5-[(phosphonooxy)methyl]-4-pyridinecarboxaldehyde|Pyridoxal phosphate owl:Class CHEBI:38187 biolink:NamedThing pyridinecarbaldehyde tmpaxzxjjyw_mondo_relaxed.owl pyridinecarbaldehydes owl:Class MONDO:0009305 biolink:NamedThing granulocytopenia with immunoglobulin abnormality tmpaxzxjjyw_mondo_relaxed.owl granulocytopenia with immunoglobulin abnormality OMIM:233600|UMLS:C1856263|MESH:C565535 owl:Class MONDO:0006830 biolink:NamedThing leukoplakia of penis A precancerous condition characterized by the presence of abnormal whitish areas on the glans or prepuce of the penis. Risk factors include chronic irritation, inflammation, and infection of the penis, and poor genital hygiene. tmpaxzxjjyw_mondo_relaxed.owl kraurosis penis|kraurosis of penis|leukoplakia of the penis|penile leukoplakia ICD9:607.0|NCIT:C3151|SCTID:3323003|EFO:1001015|ICD10:N48.0|MedDRA:10024394|DOID:8738|UMLS:C0022782 owl:Class MONDO:0002036 biolink:NamedThing penile disorder A non-neoplastic or neoplastic disorder that affects the penis. Representative examples of non-neoplastic disorders include phimosis, balanitis, and hypospadias. Representative examples of neoplastic disorders include hemangioma, penile intraepithelial neoplasia, and penile carcinoma. tmpaxzxjjyw_mondo_relaxed.owl penile disorder|penile disease|disease or disorder of penis|penis disease|disease of penis|penis disease or disorder|disorder of penis ICD9:607.9|SCTID:33958003|ICD10:N48.8|MESH:D010409|DOID:1529|ICD10:N48.89|ICD9:607.89|ICD9:607.8|UMLS:C0030846|NCIT:C26846 owl:Class MONDO:0008407 biolink:NamedThing neurogenic scapuloperoneal syndrome, Kaeser type tmpaxzxjjyw_mondo_relaxed.owl scapuloperoneal syndrome, neurogenic type, of Kaeser|stark-Kaeser syndrome|SCPNK|scapuloperoneal syndrome, neurogenic, Kaeser type|Kaeser syndrome GARD:0010312|ICD10:G12.1|OMIM:181400|DOID:0111551|Orphanet:85146|MESH:C566695|UMLS:C1867005 https://rarediseases.info.nih.gov/diseases/10312/scapuloperoneal-syndrome-neurogenic-kaeser-type owl:Class MONDO:0011298 biolink:NamedThing schizophrenia 8 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD8 on chromosome 18p. tmpaxzxjjyw_mondo_relaxed.owl schizophrenia 8 with or without an affective disorder|schizophrenia 8|SCZD8|schizophrenia susceptibility locus, chromosome 18-related DOID:0070084|OMIM:603206|UMLS:C1864124 owl:Class NCBITaxon:88770 biolink:NamedThing Panarthropoda tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1206794 biolink:NamedThing Ecdysozoa tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0051785 biolink:NamedThing positive regulation of nuclear division Any process that activates or increases the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. tmpaxzxjjyw_mondo_relaxed.owl stimulation of nuclear division|upregulation of nuclear division|activation of nuclear division|up-regulation of nuclear division|up regulation of nuclear division owl:Class GO:0010638 biolink:NamedThing positive regulation of organelle organization Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of organelle organisation|positive regulation of organelle organization and biogenesis owl:Class GO:0051098 biolink:NamedThing regulation of binding Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017215 biolink:NamedThing calciphylaxis Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs. The lack of blood flow (ischemia) damages healthy tissue and causes itto die (necrosis). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can developand become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more thana few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition. tmpaxzxjjyw_mondo_relaxed.owl idiopathic calciphylaxis GARD:0005980|ICD9:275.49|NCIT:C84607|UMLS:C0006666|DOID:4734|SCTID:237900002|MedDRA:10051714|ICD10:E83.5|MESH:D002115|Orphanet:280062 https://rarediseases.info.nih.gov/diseases/5980/calciphylaxis owl:Class MONDO:0005385 biolink:NamedThing vascular disorder A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome. tmpaxzxjjyw_mondo_relaxed.owl vascular disorder|vascular tissue disease|disease or disorder of vasculature|disease of vasculature|vasculature disease or disorder|disorder of vasculature|vasculopathy|vasculature disease ICD10:I72.9|DOID:178|MESH:D014652|EFO:0004264|ICD9:442.9|SCTID:27550009|NCIT:C26693|UMLS:C0042373|NCIT:C35117 The etiology of vasculopathy is generally unknown and the condition is frequently not pathologically proven. Vasculitis, on the other hand, is a more specific term and is defined as inflammation of the wall of a blood vessel. However, the term vasculopathy is also used for “vasculitis” that has not been pathologically established. https://github.com/monarch-initiative/mondo/issues/3602 owl:Class GO:0050806 biolink:NamedThing positive regulation of synaptic transmission Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. tmpaxzxjjyw_mondo_relaxed.owl activation of synaptic transmission|up-regulation of synaptic transmission|up regulation of synaptic transmission|upregulation of synaptic transmission|stimulation of synaptic transmission owl:Class GO:0010647 biolink:NamedThing positive regulation of cell communication Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004803 biolink:NamedThing disseminated eosinophilic collagen disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263662|DOID:9499|SCTID:423486005|ICD9:710.8 owl:Class MONDO:0015691 biolink:NamedThing hypereosinophilic syndrome Hypereosinophilic syndrome (HES) constitutes a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia and/or tissue eosinophilia associated with a wide range of clinical manifestations reflecting eosinophil-induced tissue/organ damage. tmpaxzxjjyw_mondo_relaxed.owl hypereosinophilic disease|HES|hypereosinophilic disorder|hypereosinophilic syndrome|eosinophilic leukocytosis|eosinophilia GARD:0002804|ICD10:D72.1|MedDRA:10048643|DOID:999|ICDO:9964/3|ICD10:D47.5|UMLS:C1540912|MESH:D017681|NCIT:C27038|ICD9:288.3|Orphanet:168956|SCTID:419455006|EFO:1001467 owl:Class CHEBI:38106 biolink:NamedThing organosulfur heterocyclic compound tmpaxzxjjyw_mondo_relaxed.owl organosulfur heterocyclic compounds|heterocyclic organosulfur compounds owl:Class MONDO:0003850 biolink:NamedThing clivus chondroid chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, the presence of physaliphorous cells and cartilage. tmpaxzxjjyw_mondo_relaxed.owl chondroid chordoma of clivus|chondroid chordoma of the clivus|chondroid chordoma of clivus of occipital bone|clivus of occipital bone chondroid chordoma NCIT:C5426|DOID:6313|UMLS:C1333072 owl:Class MONDO:0006145 biolink:NamedThing chondroid chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. The tumor is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells and cartilage. tmpaxzxjjyw_mondo_relaxed.owl chondroid chordoma (morphologic abnormality)|chondroid chordoma ICDO:9371/3|EFO:1000174|NCIT:C6902|DOID:4152|UMLS:C1266173 owl:Class MONDO:0012248 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2K Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported. tmpaxzxjjyw_mondo_relaxed.owl MDDGC1|muscular dystrophy limb-girdle type 2K|limb-girdle muscular dystrophy - intellectual disability|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1|limb-girdle muscular dystrophy type 2K|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1|POMT1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1|LGMD2K|LGMD-POMT1 related|limb-girdle muscular dystrophy-intellectual disability syndrome|muscular dystrophy, limb-girdle, type 2K SCTID:720523006|DOID:0110297|NCIT:C133730|GARD:0012535|EFO:0009145|ICD10:G71.0|OMIM:609308|Orphanet:86812 owl:Class UBERON:0013761 biolink:NamedThing cervical cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032818 biolink:NamedThing neurodevelopmental disorder with cerebellar hypoplasia and spasticity tmpaxzxjjyw_mondo_relaxed.owl NEDCHS|NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY OMIM:618572 owl:Class UBERON:0002107 biolink:NamedThing liver tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005172 biolink:NamedThing abdomen element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036286 biolink:NamedThing wall of right ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004784 biolink:NamedThing heart ventricle wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010925 biolink:NamedThing velo-facial-skeletal syndrome Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported. tmpaxzxjjyw_mondo_relaxed.owl VELOFACIOSKELETAL syndrome ICD10:Q87.0|SCTID:763616002|GARD:0005469|UMLS:C1833380|Orphanet:3424|MESH:C536536|OMIM:600736 owl:Class GO:0044403 biolink:NamedThing biological process involved in symbiotic interaction A process carried out by gene products in an organism that enable the organism to engage in a symbiotic relationship, a more or less intimate association, with another organism. The various forms of symbiosis include parasitism, in which the association is disadvantageous or destructive to one of the organisms; mutualism, in which the association is advantageous, or often necessary to one or both and not harmful to either; and commensalism, in which one member of the association benefits while the other is not affected. However, mutualism, parasitism, and commensalism are often not discrete categories of interactions and should rather be perceived as a continuum of interaction ranging from parasitism to mutualism. In fact, the direction of a symbiotic interaction can change during the lifetime of the symbionts due to developmental changes as well as changes in the biotic/abiotic environment in which the interaction occurs. Microscopic symbionts are often referred to as endosymbionts. tmpaxzxjjyw_mondo_relaxed.owl parasitism|symbiosis|symbiotic interaction between species|symbiotic interaction between host and organism|symbiotic process|symbiosis, encompassing mutualism through parasitism|symbiotic interaction between organisms|commensalism|symbiotic interaction|host-pathogen interaction owl:Class GO:0044419 biolink:NamedThing biological process involved in interspecies interaction between organisms Any process evolved to enable an interaction with an organism of a different species. tmpaxzxjjyw_mondo_relaxed.owl interspecies interaction with other organisms|interspecies interaction between organisms|interaction with another species|interspecies interaction owl:Class SO:0001510 biolink:NamedThing intrachromosomal A change in chromosomes that occurs between two separate chromosomes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0001509 biolink:NamedThing chromosomal_variation_attribute An attribute of a change in the structure or number of a chromosomes. tmpaxzxjjyw_mondo_relaxed.owl chromosomal variation attribute owl:Class MONDO:0009598 biolink:NamedThing metaphyseal chondrodysplasia-retinitis pigmentosa syndrome tmpaxzxjjyw_mondo_relaxed.owl RPSKA|retinitis pigmentosa with or without skeletal anomalies|brachydactyly-short stature-retinitis pigmentosa syndrome|metaphyseal chondrodysplasia with retinitis pigmentosa Orphanet:166035|OMIM:250410|MESH:C565398|UMLS:C1855188 owl:Class MONDO:0017814 biolink:NamedThing primary bone lymphoma A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of bone|lymphoma of the bone|bone lymphoma|primary lymphoma of bone|primary lymphoma of the bone|bone tissue lymphoma|lymphoma of bone tissue Orphanet:314684|SCTID:766935007|UMLS:C1332582|NCIT:C6620|ICD10:C85.7|ICD10:C85,7|DOID:6759 MONDO:0003986 owl:Class MONDO:0017207 biolink:NamedThing primary organ-specific lymphoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:279911|NCIT:C7185|UMLS:C1334465 owl:Class MONDO:0019597 biolink:NamedThing 46,XY disorder of sex development due to isolated 17,20-lyase deficiency 46,XY disorder of sex development due to isolated 17,20-lyase deficiency is a rare disorder of sex development due to reduced 17,20-lyase activity that affects individuals with 46,XY karyotype and is characterized by ambiguous external genitalia, including micropenis, perineal hypospadias, bifid scrotum, cryptorchidism, and a blind vaginal pouch. Blood pressure and electrolytes are normal whilst hormonal investigations show normal basal and stimulated levels of cortisol, and low basal and stimulated androgen levels. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:90796|OMIM:202110|UMLS:CN206443|ICD10:E29.1 owl:Class MONDO:0019596 biolink:NamedThing 46,XY disorder of sex development due to testicular steroidogenesis defect tmpaxzxjjyw_mondo_relaxed.owl 46,XY DSD due to testicular steroidogenesis defect 2022-03-01 UMLS:CN227658|Orphanet:90787|ICD10:E29.1 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class MONDO:0017230 biolink:NamedThing autosomal semi-dominant severe lipodystrophic laminopathy tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202719|ICD10:E88.1|Orphanet:280365 owl:Class MONDO:0016612 biolink:NamedThing X-linked cerebellar ataxia X-linked form of cerebellar ataxia. tmpaxzxjjyw_mondo_relaxed.owl X-linked hereditary ataxia|hereditary ataxia, X-linked|cerebellar ataxia, X-linked ICD10:G11.1|DOID:0050953|Orphanet:247765 MONDO:0000559 owl:Class MONDO:0000437 biolink:NamedThing cerebellar ataxia A neurological syndrome characterised by clumsy and unco-ordinated movement of the limbs, trunk, and cranial muscles. It results from pathology in the cerebellum and its connections, or in the proprioceptive sensory pathways. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar Degeneration|cerebellar dysmetria|ataxia|ataxia, cerebellar|ataxia syndrome|cerebellar Ataxias|rare ataxia|cerebellar Dysmetrias|spinocerebellar ataxia|ataxias, cerebellar ICD9:334.3|DOID:0050753|UMLS:C0087012|GARD:0012060|Orphanet:102002|SCTID:85102008|MESH:D002524|NCIT:C82341 In ORDO this is called rare ataxia, we rename as ataxia since all forms are individually rare owl:Class HP:0000501 biolink:NamedThing Glaucoma Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017601|SNOMEDCT_US:23986001|MSH:D005901 The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. human_phenotype owl:Class HP:0012373 biolink:NamedThing Abnormal eye physiology A functional anomaly of the eye. tmpaxzxjjyw_mondo_relaxed.owl Abnormal eye physiology UMLS:C4022924 peter 2013-10-13T03:45:37Z human_phenotype owl:Class HP:0040068 biolink:NamedThing Abnormality of limb bone tmpaxzxjjyw_mondo_relaxed.owl Abnormality of limb bone UMLS:C4022456 HPO:skoehler human_phenotype owl:Class HP:0040064 biolink:NamedThing Abnormality of limbs tmpaxzxjjyw_mondo_relaxed.owl Abnormality of limbs|Dysmelia|Abnormal limbs|Limb anomaly UMLS:C4073131|SNOMEDCT_US:445144002|UMLS:C0239337 HPO:skoehler human_phenotype owl:Class MONDO:0000382 biolink:NamedThing respiratory system benign neoplasm A benign neoplasm that involves the respiratory system. tmpaxzxjjyw_mondo_relaxed.owl respiratory system benign neoplasm UMLS:C0497556|SCTID:255166003|DOID:0050621 owl:Class MONDO:0006584 biolink:NamedThing neonatal jaundice Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma. tmpaxzxjjyw_mondo_relaxed.owl neonatal hyperbilirubinemia|neonatal icterus DOID:2383|ICD10:P59.9|UMLS:C0022353|EFO:1000739|NCIT:C99246|SCTID:387712008|MESH:D007567|ICD9:774.5|ICD9:774.6 owl:Class MONDO:0006600 biolink:NamedThing pigmentation disease tmpaxzxjjyw_mondo_relaxed.owl disorder of pigmentation SCTID:414032001 This class covers pigmentation disorders of the skin, as well as those affecting the eyes owl:Class MONDO:0005969 biolink:NamedThing st. Louis encephalitis A viral encephalitis caused by the St. Louis encephalitis virus (encephalitis virus, st. louis), a flavivirus. It is transmitted to humans and other vertebrates primarily by mosquitoes of the genus culex. The primary animal vectors are wild birds and the disorder is endemic to the midwestern and southeastern United States. Infections may be limited to an influenza-like illness or present as an aseptic meningitis or encephalitis. Clinical manifestations of the encephalitic presentation may include seizures, lethargy, myoclonus, focal neurologic signs, coma, and death. (From Adams et al., Principles of Neurology, 6th ed, p750) tmpaxzxjjyw_mondo_relaxed.owl Saint Louis encephalitis|St. Louis encephalitis virus caused infectious encephalitis|St. Louis encephalitis virus infectious encephalitis|Neuroinvasive St. Louis encephalitis virus infection DOID:10845|SCTID:417607009|EFO:0007495|ICD10:A83.3|ICD9:062.3|Orphanet:83484|UMLS:C0014060|MESH:D004674|MedDRA:10041896 owl:Class MONDO:0005763 biolink:NamedThing Flaviviridae infectious disease Infections with viruses of the family flaviviridae. tmpaxzxjjyw_mondo_relaxed.owl Flaviviridae disease or disorder|Flaviviridae caused disease or disorder EFO:0007274|SCTID:111865007|MESH:D018178 owl:Class MONDO:0017627 biolink:NamedThing congenital hereditary facial paralysis-variable hearing loss syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus. tmpaxzxjjyw_mondo_relaxed.owl congenital hereditary facial paralysis with variable deafness|congenital hereditary facial palsy with variable hearing loss|congenital hereditary facial palsy with variable deafness|congenital hereditary facial paralysis-variable deafness syndrome ICD10:Q87.0|SCTID:722389002|Orphanet:306530|OMIM:604185|OMIM:614744 owl:Class MONDO:0015499 biolink:NamedThing paralytic facial malformation tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.0|Orphanet:156224 owl:Class CHEBI:52206 biolink:NamedThing biochemical role A biological role played by the molecular entity or part thereof within a biochemical context. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001715 biolink:NamedThing oculomotor nuclear complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007245 biolink:NamedThing nuclear complex of neuraxis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007200 biolink:NamedThing blepharonasofacial malformation syndrome Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl Pashayan syndrome|blepharonasofacial malformation syndrome|Pashayan-Prozansky syndrome OMIM:110050|GARD:0004238|Orphanet:1252|MESH:C536303|ICD10:Q87.0|SCTID:717913006|UMLS:C0796197 https://rarediseases.info.nih.gov/diseases/4238/blepharonasofacial-malformation-syndrome owl:Class MONDO:0000743 biolink:NamedThing oral hairy leukoplakia An epithelial hyperplasia of the oral cavity mucosa associated with Epstein-Barr virus and found almost exclusively in persons with HIV infection. The lesion consists of a white patch that is often corrugated or hairy. tmpaxzxjjyw_mondo_relaxed.owl mouth hairy leukoplakia|oral cavity hairy leukoplakia|hairy leukoplakia of the oral mucosa|hairy leukoplakia of mouth|hairy leukoplakia|oral hairy keratosis|hairy leukoplakia of oral mucosa|hairy leukoplakia of the mouth NCIT:C3722|ICD10:K13.3|ICD9:528.6|SCTID:414952002|MESH:D017733|DOID:0060315|UMLS:C0206186 owl:Class MONDO:0006858 biolink:NamedThing mouth disorder A disease involving the mouth. tmpaxzxjjyw_mondo_relaxed.owl oral disorder|mouth disease or disorder|oral disease|disease of mouth|disease or disorder of mouth|mouth disease|disorder of mouth DOID:403|SCTID:118938008|ICD9:528.9|EFO:1001047|UMLS:C0026636|NCIT:C3240|MESH:D009059 owl:Class MONDO:0019124 biolink:NamedThing microscopic polyangiitis Microscopic polyangiitis (MPA) is an inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels (i.e. small arteries, arterioles, capillaries, venules) in multiple organs. tmpaxzxjjyw_mondo_relaxed.owl MPA|Micropolyangiitis|microscopic polyarteritis MESH:D055953|NCIT:C70549|ICD10:M31.7|SCTID:239928004|UMLS:C2347126|MedDRA:10063344|Orphanet:727|EFO:1000784|GARD:0003652 https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis owl:Class MONDO:0015492 biolink:NamedThing Anti-neutrophil cytoplasmic antibody-associated vasculitis Group of systemic vasculitis with a strong association with anca. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. tmpaxzxjjyw_mondo_relaxed.owl ANCA-associated vasculitis|AAV|antineutrophil cytoplasmic antibody-associated vasculitis UMLS:C2717865|Orphanet:156152|GARD:0013011|MESH:D056648 owl:Class MONDO:0005667 biolink:NamedThing biliary dyskinesia A motility disorder characterized by biliary colic, absence of gallstones, and an abnormal gallbladder ejection fraction. It is caused by gallbladder dyskinesia and/or sphincter of oddi dysfunction. tmpaxzxjjyw_mondo_relaxed.owl sphincter of Oddi dysfunction UMLS:C0005416|MESH:D001657|ICD9:575.8|SCTID:197432008|DOID:4140|HP:0012396|EFO:0007169 Editor note: consider ciliary classification owl:Class HGNC:6143 biolink:NamedThing ITGA7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003895 biolink:NamedThing periosteal osteogenic sarcoma An intermediate grade malignant bone-forming mesenchymal neoplasm with chondroblastic differentiation. It arises from the surface of the bone and affects the diaphysis or diaphyseal- metaphyseal portion of the long bones. A painless mass or swelling is the most common clinical sign. It is associated with a better prognosis than conventional osteosarcoma. tmpaxzxjjyw_mondo_relaxed.owl PEOS|juxtacortical chondroblastic osteosarcoma|periosteal osteosarcoma|periosteal osteosarcoma (morphologic abnormality)|periosteal osteogenic sarcoma NCIT:C8970|DOID:6489|UMLS:C1377843|ICDO:9193/3|ONCOTREE:PEOS owl:Class MONDO:0002628 biolink:NamedThing peripheral osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. tmpaxzxjjyw_mondo_relaxed.owl surface osteosarcoma|bone surface (peripheral) osteosarcoma|peripheral osteosarcoma NCIT:C7134|DOID:3374|UMLS:C1332591 owl:Class MONDO:0005608 biolink:NamedThing varicella zoster infection A highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox. tmpaxzxjjyw_mondo_relaxed.owl Varicella-zoster Virus infection|varicella zoster infection EFO:0006509|SCTID:309465005|NCIT:C96407|UMLS:C0586989|ICD9:052.7 owl:Class MONDO:0011497 biolink:NamedThing hereditary North American Indian childhood cirrhosis Hereditary North American Indian childhood cirrhosis is a severe autosomal recessive intrahepatic cholestasis that has only been described in aboriginal children from northwestern Quebec. Manifesting first as transient neonatal jaundice, the disease evolves into periportal fibrosis and cirrhosis during a period ranging from childhood to adolescence. tmpaxzxjjyw_mondo_relaxed.owl NORTH American Indian childhood cirrhosis|NAIC ICD10:K74.6|OMIM:604901|Orphanet:168583|MESH:C565737|UMLS:C1858051|SCTID:699189004 owl:Class GO:0016818 biolink:NamedThing hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides Catalysis of the hydrolysis of any acid anhydride which contains phosphorus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016817 biolink:NamedThing hydrolase activity, acting on acid anhydrides Catalysis of the hydrolysis of any acid anhydride. tmpaxzxjjyw_mondo_relaxed.owl hydrolase activity, acting on acid anhydrides, involved in cellular and subcellular movement owl:Class MONDO:0020135 biolink:NamedThing pontocerebellar hypoplasia Pontocerebellar hypoplasias (PCH) are a rare heterogeneous group of diseases characterized by hypoplasia and atrophy and/or early neurodegeneration of the cerebellum and pons. Eight subtypes named type 1-8 have been described, generally inherited in an autosomal recessive pattern. tmpaxzxjjyw_mondo_relaxed.owl isolated pontocerebellar hypoplasia|PCH|pontoneocerebellar atrophy|pontocerebellar hypoplasia|nonsyndromic pontocerebellar hypoplasia|pontoneocerebllar hypoplasia UMLS:CN924922|SCTID:45163000|DOID:0060264|OMIMPS:607596|ICD10:Q04.3|Orphanet:98523|GARD:0010977|MESH:C580383 https://rarediseases.info.nih.gov/diseases/10977/pontocerebellar-hypoplasia owl:Class MONDO:0020133 biolink:NamedThing posterior fossa malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98519 owl:Class MONDO:0018559 biolink:NamedThing fetal lower urinary tract obstruction tmpaxzxjjyw_mondo_relaxed.owl LUTO UMLS:C4305545|SCTID:717752005|Orphanet:435365 owl:Class MONDO:0012088 biolink:NamedThing primary ciliary dyskinesia 5 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the HYDIN gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in HYDIN|HYDIN primary ciliary dyskinesia|ciliary dyskinesia, primary, type 5|primary ciliary dyskinesia 5 without situs inversus|CILD5|ciliary dyskinesia, primary, 5|primary ciliary dyskinesia type 5|ciliary dyskinesia, primary, 5, without situs inversus UMLS:C1837615|ICD10:Q34.8|OMIM:608647|MESH:C563886|DOID:0110617 owl:Class GO:0001812 biolink:NamedThing positive regulation of type I hypersensitivity Any process that activates or increases the frequency, rate or extent of type I hypersensitivity, a type of inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl up regulation of type I hypersensitivity|up-regulation of type I hypersensitivity|activation of type I hypersensitivity|upregulation of type I hypersensitivity|stimulation of type I hypersensitivity owl:Class GO:0001810 biolink:NamedThing regulation of type I hypersensitivity Any process that modulates the frequency, rate, or extent of type I hypersensitivity, a type of inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008395 biolink:NamedThing steroid hydroxylase activity Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2. tmpaxzxjjyw_mondo_relaxed.owl olfactory-specific steroid hydroxylase activity|cytochrome P450 CYP2G1 owl:Class GO:0004497 biolink:NamedThing monooxygenase activity Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water. tmpaxzxjjyw_mondo_relaxed.owl hydroxylase activity owl:Class MONDO:0010166 biolink:NamedThing ulnar agenesis and endocardial fibroelastosis tmpaxzxjjyw_mondo_relaxed.owl ulnar agenesis and endocardial fibroelastosis UMLS:C1848649|MESH:C564756|OMIM:276822 owl:Class MONDO:0020750 biolink:NamedThing polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 tmpaxzxjjyw_mondo_relaxed.owl OMIM:618193 owl:Class MONDO:0009092 biolink:NamedThing polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly A rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities. tmpaxzxjjyw_mondo_relaxed.owl PLO-SL|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|Nasu-Hakola disease|presenile dementia with bone cysts|progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly|NHD|PLOSL|dementia, prefrontal, with bone cysts|dementia, progressive, with lipomembranous polycystic osteodysplasia ICD9:758.89|GARD:9921|DOID:0090112|OMIMPS:221770|UMLS:C1857316|SCTID:702347001|Orphanet:2770|ICD10:E75.2|GARD:0009921 owl:Class MONDO:0019002 biolink:NamedThing Lhermitte-Duclos disease Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. tmpaxzxjjyw_mondo_relaxed.owl dysplastic gangliocytoma of cerebellum|LDD|dysplastic gangliocytoma of the cerebellum|dysplastic cerebellar gangliocytoma ICDO:9493/0|ICD10:Q04.8|UMLS:C0391826|Orphanet:65285|NCIT:C8419|OMIM:158350|GARD:0006901 owl:Class NCBITaxon:555280 biolink:NamedThing Discosea tmpaxzxjjyw_mondo_relaxed.owl Flabellinea GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:554915 biolink:NamedThing Amoebozoa tmpaxzxjjyw_mondo_relaxed.owl PMID:23020233|PMID:30257078|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004429 biolink:NamedThing skin meningioma A meningioma (disease) that involves the zone of skin. tmpaxzxjjyw_mondo_relaxed.owl zone of skin meningioma (disease)|meningioma (disease) of zone of skin|primary meningioma of the skin DOID:8006|NCIT:C5277|UMLS:C1335481 owl:Class MONDO:0002898 biolink:NamedThing skin cancer A malignant neoplasm involving the zone of skin tmpaxzxjjyw_mondo_relaxed.owl skin neoplasm, malignant|malignant tumor of the skin|malignant zone of skin neoplasm|malignant neoplasm of the skin|zone of skin cancer|cancer of skin|malignant skin neoplasm|CA - skin cancer|malignant neoplasm of skin|malignant neoplasm of zone of skin|skin cancer, Including melanoma|cancer of zone of skin|skin cancer|malignant skin tumor|melanoma and non-melanoma skin cancer|malignant tumor of skin UMLS:C0007114|GARD:0010421|SCTID:372130007|ICD9:173.8|DOID:4159|MESH:D012878|ICD10:C43.C44|ICD9:173.9|NCIT:C2920 owl:Class HGNC:9967 biolink:NamedThing RET tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015286 biolink:NamedThing congenital disorder of glycosylation Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation. tmpaxzxjjyw_mondo_relaxed.owl carbohydrate-deficient glycoprotein syndrome|carbohydrate deficient glycoprotein syndrome|carbohydrate-deficient glycoprotein syndromes|CDG|congenital disorders of glycosylation|congenital disorder of glycosylation UMLS:C0282577|MESH:D018981|NCIT:C84615|GARD:0010307|Orphanet:137|DOID:5212|SCTID:238049009|ICD10:E77.8|ICD9:271.8 owl:Class MONDO:0032678 biolink:NamedThing developmental and epileptic encephalopathy, 71 tmpaxzxjjyw_mondo_relaxed.owl DEE71|Glutaminase Deficiency With Neonatal Epileptic Encephalopathy|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71|EIEE71|epileptic encephalopathy, early infantile, 71 OMIM:618328 owl:Class MONDO:0600001 biolink:NamedThing glutaminase deficiency Glutaminase deficiency is characterized by refractory seizures, respiratory failure, brain abnormalities and death in the neonatal period, though milder cases with spastic ataxia-dysarthria have also been reported. This condition is caused by mutations in the glutaminase (GLS) gene. tmpaxzxjjyw_mondo_relaxed.owl glutaminase deficiency http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0017913 biolink:NamedThing pure or complex hereditary spastic paraplegia tmpaxzxjjyw_mondo_relaxed.owl Pure or complicated familial spastic paraplegia|Pure or complicated hereditary spastic paraplegia|Pure or complex familial spastic paraplegia Orphanet:320335|ICD10:G11.4|UMLS:CN227219 owl:Class MONDO:0019064 biolink:NamedThing hereditary spastic paraplegia Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. tmpaxzxjjyw_mondo_relaxed.owl SPG|French settlement disease|familial spastic paraparesis|hereditary spastic paraparesis|spastic paraplegia|Strümpell-Lorrain disease|FSP|HSP|Strumpell-Lorrain disease|familial spastic paraplegia MedDRA:10019903|MESH:D015419|OMIMPS:303350|ICD10:G11.4|Orphanet:685|ICD9:334.1|DOID:2476|SCTID:39912006|SCTID:76043009|UMLS:C2931355|GARD:0006637|NCIT:C140267 https://rarediseases.info.nih.gov/diseases/6637/hereditary-spastic-paraplegia owl:Class UBERON:0006011 biolink:NamedThing hyaloid vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009141 biolink:NamedThing craniocervical region vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000003 biolink:NamedThing naris tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042488 biolink:NamedThing positive regulation of odontogenesis of dentin-containing tooth Any process that activates or increases the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages that are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. tmpaxzxjjyw_mondo_relaxed.owl stimulation of odontogenesis|positive regulation of odontogenesis of dentine-containing tooth|upregulation of odontogenesis|up-regulation of odontogenesis|positive regulation of odontogenesis of dentine-containing teeth|activation of odontogenesis|up regulation of odontogenesis owl:Class GO:0042482 biolink:NamedThing positive regulation of odontogenesis Any process that activates or increases the frequency, rate or extent of the formation and development of a tooth or teeth. tmpaxzxjjyw_mondo_relaxed.owl stimulation of odontogenesis|upregulation of odontogenesis|positive regulation of odontogenesis of calcareous or chitinous tooth|up-regulation of odontogenesis|positive regulation of tooth development|up regulation of odontogenesis|activation of odontogenesis owl:Class MONDO:0041535 biolink:NamedThing mesenteric lymphadenitis due to Yersinia infection An mesenteric lymphadenitis caused by infection with Yersinia pseudotuberculosis. tmpaxzxjjyw_mondo_relaxed.owl Yersinia pseudotuberculosis caused mesenteric lymphadenitis|mesenteric lymphadenitis due to Yersinia pseudotuberculosis|Masshoff's syndrome|Yersinia pseudotuberculosis mesenteric lymphadenitis|lymphadenitis mesenterialis Masshoff UMLS:C0275758|SCTID:13272007 owl:Class MONDO:0009931 biolink:NamedThing pulmonary atresia-intact ventricular septum syndrome Pulmonary atresia with intact ventricular septum (PA-IVS) is a rare form of cyanotic congenital heart malformation characterized by severe cyanosis and tachypnea. PA-IVS presents significant morphologic diversity: at the end of the spectrum are patients with a mildly hypoplastic and tripartite right ventricle (RV) and mild tricuspid valve (TV) hypoplasia, and at the other end are patients with severe RV and TV hypoplasia, often with RV-dependent coronary circulation. tmpaxzxjjyw_mondo_relaxed.owl pulmonary valve atresia with intact ventricular septum|pulmonary atresia with intact ventricular septum GARD:0004600|OMIM:265150|UMLS:C0344975|ICD10:Q22.6|NCIT:C99032|MESH:C562832|SCTID:253590009|Orphanet:1208 owl:Class MONDO:0020287 biolink:NamedThing pulmonary artery or pulmonary branch anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98719 owl:Class GO:0098815 biolink:NamedThing modulation of excitatory postsynaptic potential Any process that modulates the frequency, rate or extent of excitatory postsynaptic potential (EPSP). EPSP is a process that leads to a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042391 biolink:NamedThing regulation of membrane potential Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903708 biolink:NamedThing positive regulation of hemopoiesis Any process that activates or increases the frequency, rate or extent of hemopoiesis. tmpaxzxjjyw_mondo_relaxed.owl upregulation of haemopoiesis|up-regulation of hemopoiesis|activation of hemopoiesis|up-regulation of blood cell biosynthesis|up regulation of blood cell biosynthesis|positive regulation of haemopoiesis|up regulation of haemopoiesis|upregulation of blood cell biosynthesis|up regulation of hemopoiesis|upregulation of blood cell formation|upregulation of hematopoiesis|activation of blood cell formation|up regulation of blood cell formation|activation of blood cell biosynthesis|activation of hematopoiesis|positive regulation of blood cell formation|up-regulation of haemopoiesis|up regulation of hematopoiesis|up-regulation of blood cell formation|upregulation of hemopoiesis|positive regulation of hematopoiesis|activation of haemopoiesis|up-regulation of hematopoiesis|positive regulation of blood cell biosynthesis owl:Class MONDO:0017276 biolink:NamedThing frontotemporal dementia Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy. tmpaxzxjjyw_mondo_relaxed.owl FTD|Wilhemsen-Lynch disease|frontotemporal lobe dementia (FLDEM)|multiple system tauopathy with presenile dementia|pallidopontonigral degeneration|frontotemporal lobar degeneration|MSTD DOID:9255|OMIM:172700|MESH:D057180|Orphanet:282|UMLS:C0520716|MedDRA:10068968|NCIT:C84719|OMIM:600795|OMIM:607485|OMIM:600274|UMLS:C0338451|GARD:0008436|ICD10:G31.0 owl:Class MONDO:0024237 biolink:NamedThing inherited neurodegenerative disorder An inherited disorder characterized by progressive degeneration and atrophy of the nervous system. tmpaxzxjjyw_mondo_relaxed.owl hereditary neurodegenerative disorder|hereditary neurodegenerative disease|genetic neurodegenerative disease UMLS:C3273225|NCIT:C97073|MESH:D020271|Orphanet:183500|UMLS:CN200549 owl:Class MONDO:0021288 biolink:NamedThing carcinoma in situ of hypopharynx A in situ carcinoma that involves the hypopharynx. tmpaxzxjjyw_mondo_relaxed.owl stage 0 hypopharyngeal carcinoma aJCC v6, v7, and v8|stage 0 hypopharyngeal cancer|stage 0 hypopharyngeal carcinoma aJCC v7|stage 0 hypopharyngeal carcinoma|hypopharynx carcinoma in situ|stage 0 hypopharyngeal throat cancer|stage 0 carcinoma of the hypopharynx|hypopharynx in situ carcinoma|stage 0 hypopharynx carcinoma|stage 0 hypopharyngeal carcinoma aJCC v6|carcinoma in situ of the hypopharynx|carcinoma in situ of hypopharynx|hypopharyngeal carcinoma in situ|stage 0 hypopharyngeal carcinoma aJCC v8|stage 0 carcinoma of hypopharynx|stage 0 hypopharyngeal carcinoma in situ NCIT:C9101|UMLS:C0347100|SCTID:92612007|UMLS:C4331310 owl:Class UBERON:0002049 biolink:NamedThing vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001821 biolink:NamedThing histamine secretion The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046903 biolink:NamedThing secretion The controlled release of a substance by a cell or a tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016367 biolink:NamedThing dermatomyositis Dermatomyositis (DM) is a type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness. tmpaxzxjjyw_mondo_relaxed.owl polymyositis with skin involvement|Amyopathic dermatomyositis|dermatopolymyositis|adult dermatomyositis|dermatomyositis|DM EFO:0000398|NCIT:C26744|ICD10:M33|ICD10:M33.90|Orphanet:221|ICD10:M33.0|ICD10:M33.9|SCTID:396230008|GARD:0006263|ICD9:710.3|MESH:D003882|MedDRA:10012503|UMLS:C0011633|DOID:10223|ICD10:M33.1 owl:Class MONDO:0008770 biolink:NamedThing amelogenesis imperfecta type 1C tmpaxzxjjyw_mondo_relaxed.owl amelogenesis imperfecta type IC|amelogenesis imperfecta, type 1C|autosomal recessive amelogenesis imperfecta hypoplastic with or without openbite malocclusion|amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive|amelogenesis imperfecta, local hypoplastic type, autosomal recessive|autosomal recessive amelogenesis imperfecta local hypoplastic type|amelogenesis imperfecta, type IC|AI1C Orphanet:100031|MESH:C567147|ICD10:K00.5|DOID:0110056|UMLS:C2673923|OMIM:204650 owl:Class MONDO:0015047 biolink:NamedThing amelogenesis imperfecta type 1 tmpaxzxjjyw_mondo_relaxed.owl hypoplastic amelogenesis imperfecta Orphanet:100031|OMIM:616270|SCTID:109476006|OMIM:301201|ICD9:520.5|OMIM:616221|OMIM:104530|ICD10:K00.5|OMIM:617297|OMIM:204650|OMIM:104500 owl:Class HGNC:1232 biolink:NamedThing EGLN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042362 biolink:NamedThing fat-soluble vitamin biosynthetic process The chemical reactions and pathways resulting in the formation of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. tmpaxzxjjyw_mondo_relaxed.owl fat-soluble vitamin synthesis|fat-soluble vitamin biosynthesis|fat-soluble vitamin formation|fat-soluble vitamin anabolism owl:Class GO:0009110 biolink:NamedThing vitamin biosynthetic process The chemical reactions and pathways resulting in the formation of a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpaxzxjjyw_mondo_relaxed.owl vitamin synthesis|vitamin anabolism|vitamin biosynthesis|vitamin formation owl:Class OBO:CHR_9606-chr20q13.33 biolink:NamedThing 20q13.33 (Human) tmpaxzxjjyw_mondo_relaxed.owl 64444167 59700000 hg38 owl:Class MONDO:0021042 biolink:NamedThing glioma A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. tmpaxzxjjyw_mondo_relaxed.owl glial tumor|glioma|neuroglial tumor|neoplasm of the neuroglia|tumor of the neuroglia|tumor of neuroglia|neuroglial neoplasm|neoplasm of neuroglia|glial neoplasm GARD:0006513|MESH:D005910|UMLS:C0017638|Orphanet:182067|NCIT:C3059|SCTID:393564001 owl:Class MONDO:0021193 biolink:NamedThing neuroepithelial neoplasm A neoplasm of the nervous system that arises from the neuroepithelial tissues. Representative examples include astrocytic tumors, oligodendroglial tumors, ependymal tumors, and primitive neuroectodermal tumors. tmpaxzxjjyw_mondo_relaxed.owl tumor of neuroepithelium|neuroepithelial neoplasms|primary neuroepithelial tumor|tumor of neuroepithelial tissue|neuroepithelial tissue tumor|neuroepithelial tissue neoplasm|neoplasm of the neuroepithelium|neoplasm of neuroepithelial tissue|neuroepithelial neoplasm|neoplasm of neuroepithelium|tumor of the neuroepithelium|neuroepithelial tumors|neuroepithelial tumor NCIT:C3787|MESH:D018302|ONCOTREE:PRNET Editor note consider adding grouping class for Neuroepithelial, Perineurial, and Schwann Cell Neoplasm owl:Class MONDO:0009324 biolink:NamedThing Hartnup disease Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine). tmpaxzxjjyw_mondo_relaxed.owl Hartnup disorder|Hartnup disease|neutral 1 amino acid transport defect|deficiency of tryptophan oxygenase|HND|aminoaciduria, Hartnup type|neutral amino acid transport defect MedDRA:10019165|Orphanet:2116|UMLS:C0018609|NCIT:C84748|ICD10:E72.0|MESH:D006250|SCTID:80902009|OMIM:234500|ICD10:E72.02|DOID:1060|GARD:0006569 https://rarediseases.info.nih.gov/diseases/6569/hartnup-disease owl:Class MONDO:0000588 biolink:NamedThing autoimmune disorder of gastrointestinal tract A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system. tmpaxzxjjyw_mondo_relaxed.owl alimentary part of gastrointestinal system autoimmune disease|autoimmune disease of alimentary part of gastrointestinal system|alimentary part of gastrointestinal system hypersensitivity reaction type II disease DOID:0060031 owl:Class UBERON:0011141 biolink:NamedThing appendicular ossicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010911 biolink:NamedThing ossicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009856 biolink:NamedThing Peters plus syndrome An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism. tmpaxzxjjyw_mondo_relaxed.owl Krause-Kivlin syndrome|Peters anomaly-short limb dwarfism syndrome|Peters anomaly with short-limb dwarfism|Krause-van Schooneveld-Kivlin syndrome|Peters anomaly with short limb dwarfism|Peters-plus syndrome SCTID:449817000|NCIT:C123436|OMIM:261540|ICD9:743.44|GARD:0008422|UMLS:C0796012|DOID:0080201|MESH:C537617|ICD10:Q13.4|DOID:0070312|Orphanet:709 https://rarediseases.info.nih.gov/diseases/8422/peters-plus-syndrome owl:Class MONDO:0018296 biolink:NamedThing congenital disorder of glycosylation with developmental anomaly tmpaxzxjjyw_mondo_relaxed.owl CDG with developmental anomaly 2022-03-01 ICD10:E77.8|Orphanet:371235|GARD:0012782 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: congenital disorder of glycosylation' MONDO_0015286 https://rarediseases.info.nih.gov/diseases/12782/congenital-disorder-of-glycosylation-with-developmental-anomaly owl:Class CL:0000179 biolink:NamedThing progesterone secreting cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0000151 biolink:NamedThing secretory cell A cell that specializes in controlled release of one or more substances. tmpaxzxjjyw_mondo_relaxed.owl FMA:86916|BTO:0003659 cell owl:Class GO:0061037 biolink:NamedThing negative regulation of cartilage development Any process that decreases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0061035 biolink:NamedThing regulation of cartilage development Any process that modulates the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017381 biolink:NamedThing congenital herpes simplex virus infection Congenital herpes virus infection is a group of anomalies that an infant may present as a result of maternal infection and subsequent foetal infection with herpes virus. This virus causes recurrent cutaneous infections in adults, often involving the lips or the genitalia. Herpes infections in other organs, such as the liver or central nervous system, are less frequent. tmpaxzxjjyw_mondo_relaxed.owl congenital herpes simplex infection|antenatal herpes simplex virus infection|congenital herpes simplex|Simplexvirus caused infectious embryofetopathy|neonatal HSV infection|Simplexvirus infectious embryofetopathy|neonatal herpes simplex virus infection|mother-to-child transmission of herpes simplex virus infection|neonatal herpes simplex ICD9:771.2|GARD:0001486|ICD10:P35.2|SCTID:91576008|UMLS:C0276225|GARD:0007173|Orphanet:293 MONDO:0022267 https://rarediseases.info.nih.gov/diseases/1486/congenital-herpes-simplex owl:Class MONDO:0030326 biolink:NamedThing mitochondrial dna depletion syndrome 16B (neuroophthalmic type) tmpaxzxjjyw_mondo_relaxed.owl mitochondrial dna depletion syndrome 16B (neuroophthalmic type)|MTDPS16B OMIM:619425 owl:Class MONDO:0100339 biolink:NamedThing Friedreich ataxia An inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. tmpaxzxjjyw_mondo_relaxed.owl hereditary spinal ataxia|Friedreich ataxia with retained reflexes|spinocerebellar ataxia, Friedreich|Friedreich's tabes|hereditary spinal sclerosis|Friedreich's ataxia|Friedreich ataxia|FA|FRDA Orphanet:95|UMLS:C0016719|DOID:12705|ICD9:334.0|OMIM:229300|NCIT:C84718|MedDRA:10017374|MESH:D005621|OMIM:601992|SCTID:10394003|ICD10:G11.1|GARD:0006468 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/6468/friedreich-ataxia owl:Class MONDO:0017284 biolink:NamedThing Xp22.13p22.2 duplication syndrome tmpaxzxjjyw_mondo_relaxed.owl dup(X)(p22.13p22.2)|Duplication Xp22|dup(X)(p22) ICD10:Q99.8|Orphanet:284180|UMLS:CN202846 owl:Class MONDO:0005641 biolink:NamedThing aleutian mink disease A slow progressive disease of mink caused by the aleutian mink disease virus. It is characterized by poor reproduction, weight loss, autoimmunity, hypergammaglobulinemia, increased susceptibility to bacterial infections, and death from renal failure. The disease occurs in all color types, but mink which are homozygous recessive for the Aleutian gene for light coat color are particularly susceptible. tmpaxzxjjyw_mondo_relaxed.owl Aleutian disease|Aleutian mink disease virus infectious disease|Aleutian mink disease virus caused disease or disorder|Aleutian mink disease virus disease or disorder SCTID:62251004|EFO:0007139|MESH:D000453|DOID:2934|ICD9:079.89|UMLS:C0002016 owl:Class MONDO:0016097 biolink:NamedThing symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200864|ICD10:G71.0|SCTID:765197008|Orphanet:206546 owl:Class MONDO:0010542 biolink:NamedThing dilated cardiomyopathy 3B Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene. tmpaxzxjjyw_mondo_relaxed.owl X-linked dilated cardiomyopathy|cardiomyopathy, dilated, 3B|dilated cardiomyopathy type 3B|dilated cardiomyopathy caused by mutation in DMD|dilated cardiomyopathy 3B|cardiomyopathy, dilated, type 3B|DMD-related dilated cardiomyopathy|CMD3B|cardiomyopathy, dilated, X-linked|DMD dilated cardiomyopathy MESH:C580047|ICD10:I42.0|ICD9:425.4|SCTID:702424003|DOID:0060561|UMLS:C3668940|DOID:0110461|OMIM:302045 owl:Class MONDO:0007247 biolink:NamedThing basal ganglia calcification, idiopathic, childhood-onset tmpaxzxjjyw_mondo_relaxed.owl idiopathic basal ganglia calcification childhood-onset|IBGC childhood onset|striopallidodentate calcinosis, bilateral, childhood-onset|basal ganglia calcification, idiopathic, childhood-onset|bilateral striopallidodentate calcinosis childhood-onset|IBGC, childhood-onset|cerebral calcification nonarteriosclerotic idiopathic childhood-onset|cerebral calcification, nonarteriosclerotic, idiopathic, childhood-onset OMIM:114100|Orphanet:51|UMLS:C1861967|GARD:0009598|MESH:C536276 Not in the OMIM series. https://rarediseases.info.nih.gov/diseases/9598/idiopathic-basal-ganglia-calcification-childhood-onset owl:Class MONDO:0008947 biolink:NamedThing bilateral striopallidodentate calcinosis A basal ganglia disease characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration. tmpaxzxjjyw_mondo_relaxed.owl basal ganglia calcification|basal ganglia calcification, idiopathic|primary familial brain calcification|cerebrovascular ferrocalcinosis|BSPDC|idiopathic basal ganglia calcification|Fahr disease|basal ganglia degeneration with calcification|PFBC DOID:0060230|OMIM:114100|OMIM:615007|OMIM:606656|ICD9:348.89|HP:0002135|UMLS:CN852731|OMIMPS:213600|SCTID:110997000|OMIM:615483|SCTID:230311004|ICD10:G23.8|Orphanet:1980|UMLS:C0393590|MedDRA:10059626|OMIM:616413|MESH:C536275|UMLS:C0393589|ICD9:333.0|OMIM:213600 Encompasses a range of disorders with different etiology, see https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-016-0693-1 owl:Class MONDO:0019260 biolink:NamedThing adult neuronal ceroid lipofuscinosis A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. tmpaxzxjjyw_mondo_relaxed.owl adult neuronal ceroid lipofuscinosis|adult NCL|Kuf's disease|ANCL|Kufs disease|CLN4 disease, adult autosomal dominant|neuronal ceroid lipofuscinosis 4|neuronal ceroid lipofuscinosis of adults OMIM:162350|OMIM:614706|Orphanet:79262|OMIM:610127|OMIM:601780|ICD10:E75.4|UMLS:C0022797|OMIM:615362|OMIM:256730|UMLS:CN205864|OMIM:204300|GARD:0010973|SCTID:62009002 https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis owl:Class MONDO:0020143 biolink:NamedThing cerebral lipidosis with dementia tmpaxzxjjyw_mondo_relaxed.owl cerebral lipidosis DOID:10742|SCTID:16517004|Orphanet:98544|ICD9:330.1|UMLS:C0007788 owl:Class NCBITaxon:10239 biolink:NamedThing Viruses tmpaxzxjjyw_mondo_relaxed.owl viruses|Vira|Viridae GC_ID:1 ncbi_taxonomy owl:Class OBI:0100026 biolink:NamedThing organism A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. tmpaxzxjjyw_mondo_relaxed.owl WEB: http://en.wikipedia.org/wiki/Organism organism owl:Class MONDO:0002587 biolink:NamedThing encapsulated thymoma A thymoma that is confined within the capsule and may display benign or malignant morphologic characteristics. tmpaxzxjjyw_mondo_relaxed.owl encapsulated thymoma DOID:3278|NCIT:C7386|UMLS:C1333383 owl:Class MONDO:0006456 biolink:NamedThing thymoma A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course. tmpaxzxjjyw_mondo_relaxed.owl primary thymic epithelial tumor|THYM|thymoma|primary thymic epithelial neoplasm|thymoma (disease) thymoma (disease) ICD10:D15.0|OMIM:274230|ICD9:239.89|MedDRA:10043670|HP:0100522|ICDO:8580/1|ICD10:D38.4|ONCOTREE:THYM|DOID:3275|EFO:1000581|Orphanet:99867|UMLS:C0040100|SCTID:444231005|NCIT:C3411 owl:Class MONDO:0013458 biolink:NamedThing hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome tmpaxzxjjyw_mondo_relaxed.owl HUPRA syndrome|Hupra syndrome|hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome|HUPRAS UMLS:C3151209|ICD10:N15.8|Orphanet:363694|OMIM:613845 owl:Class HGNC:13601 biolink:NamedThing FBXL4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000386 biolink:NamedThing digestive system neuroendocrine tumor, grade 1/2 A well-differentiated neuroendocrine tumor arising from the digestive system. It is characterized by the presence of cells with features similar to those of the normal endocrine cells of the digestive system. The neoplastic cells express immunohistochemical evidence of neuroendocrine differentiation and hormones. There is mild to moderate nuclear atypia and less than 20 mitoses per 10 HPF. It includes well-differentiated endocrine tumors or carcinoid tumors and well-differentiated endocrine carcinomas. tmpaxzxjjyw_mondo_relaxed.owl gastrointestinal neuroendocrine tumor|gastrointestinal neuroendocrine tumors|gastrointestinal system neuroendocrine tumor|digestive system neuroendocrine tumor|gastroenteropancreatic neuroendocrine tumor|gastroenteropancreatic NET|GINET|malignant gastrointestinal neuroendocrine tumor|gastrointestinal NET|digestive system well differentiated neuroendocrine tumor|digestive system NET|alimentary part of gastrointestinal system neuroendocrine tumor DOID:0050626|NCIT:C95404|UMLS:C2987127|ONCOTREE:GINET owl:Class MONDO:0024503 biolink:NamedThing digestive system neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation arising from the digestive system. It includes neuroendocrine tumors (well-differentiated endocrine tumors or carcinoid tumors and well differentiated endocrine carcinomas) and neuroendocrine carcinomas (poorly differentiated neuroendocrine carcinomas, small cell carcinomas, and large cell neuroendocrine carcinomas). tmpaxzxjjyw_mondo_relaxed.owl GEP-NET|alimentary part of gastrointestinal system NET|neuroendocrine neoplasm of alimentary part of gastrointestinal system|GEP-NEN|gastrointestinal neuroendocrine neoplasm|alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade|gastro-enteropancreatic neuroendocrine tumor|gastroenteropancreatic endocrine tumor|digestive system neuroendocrine neoplasm|GEP tumors|alimentary part of gastrointestinal system neuroendocrine neoplasm|neuroendocrine neoplasm of digestive system|gastrointestinal system neuroendocrine neoplasm|gastroenteropancreatic neuroendocrine neoplasm|digestive system NET|alimentary part of gastrointestinal system neuroendocrine tumor|carcinoid tumor of digestive system|digestive system neuroendocrine tumor|carcinoid tumor|digestive system neuroendocrine tumor, well differentiated, low or intermediate grade GARD:0002437|NCIT:C27721|Orphanet:100092|UMLS:CN197371|MESH:C535650 https://rarediseases.info.nih.gov/diseases/2437/gastro-enteropancreatic-neuroendocrine-tumor owl:Class HGNC:3381 biolink:NamedThing EPB42 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020574 biolink:NamedThing central nervous system nongerminomatous germ cell tumor Germ cell tumors of the central nervous system other than germinoma. This category includes teratoma, choriocarcinoma, embryonal carcinoma, and yolk sac tumor. tmpaxzxjjyw_mondo_relaxed.owl nongerminomatous GCT - CNS|central nervous system nongerminomatous germ cell tumor|nongerminomatous germ cell tumor of the CNS UMLS:C1696109|NCIT:C100093 owl:Class MONDO:0001172 biolink:NamedThing salpingo-oophoritis tmpaxzxjjyw_mondo_relaxed.owl tubo-ovarian abscess (disorder)|tubo ovarian abscess|salpingitis/oophoritis|Tubo-ovarian inflammatory disease|tubo-ovarian abscess ICD10:N70.93|DOID:10972|ICD9:614.2|ICD10:N70.9|UMLS:C0036133|ICD10:N70|SCTID:46536000 owl:Class MONDO:0006816 biolink:NamedThing arthropathy Any disorder of the joints. tmpaxzxjjyw_mondo_relaxed.owl Joint disorder|Joint ankylosis of the shoulder region|ankylosis of joint of multiple sites|disorder of joint|ankylosis of forearm joint|ankylosis of upper arm joint|ankylosis of joint of upper arm|ankylosis of lower leg joint|ankylosis of joint of hand|ankylosis of joint of shoulder region|arthrosis|joint disorder|skeletal joint disease|Joint ankylosis of the ankle and/or foot|Joint ankylosis of the pelvic region and thigh|ankylosis of joint of ankle and/or foot|joint disease|skeletal joint disease or disorder|Joint ankylosis of the hand|disorder of skeletal joint|arthropathy|disorder, Joint|infectious arthropathy|ankylosis of multiple joints|Joint ankylosis of the upper arm|Joint ankylosis of the lower leg|ankylosis of joint of forearm|ankylosis of ankle and foot joint|ankylosis of joint of lower leg|ankylosis of hand joint|ankylosis of joint of pelvic region and thigh|disease of skeletal joint|Joint ankylosis of the forearm|disease or disorder of skeletal joint|Joint ankylosis of the ankle and foot ICD9:719.88|ICD9:716.98|ICD10:M12.9|DOID:381|ICD10:M00-M02|ICD9:716.9|ICD9:719.9|ICD10:M25.9|NCIT:C35760|EFO:1000999|ICD9:719.90|SCTID:396275006|ICD9:719.98|MESH:D007592|MedDRA:10003285|ICD9:716.80|ICD9:711|ICD9:719.80|ICD9:719.89|ICD9:716.90|ICD10:M19.90|ICD9:716.88|ICD10:M15.M19|UMLS:C0022408|SCTID:399269003 owl:Class MONDO:0100234 biolink:NamedThing paroxysmal familial ventricular fibrillation A rare, genetic, cardiac rhythm disease characterized by ventricular fibrillation in the absence of any structural or functional heart disease, or known repolarization abnormalities. The presence of J waves is associated with a higher risk of nocturnal ventricular fibrillation events and a higher risk of recurrence. tmpaxzxjjyw_mondo_relaxed.owl idiopathic ventricular fibrillation, non Brugada type|paroxysmal ventricular fibrillation|idiopathic ventricular fibrillation|paroxysmal familial ventricular fibrillation (disorder)|IVF|ventricular fibrillation, paroxysmal familial|paroxysmal familial ventricular fibrillation GARD:0004227|OMIM:612956|OMIM:603829|Orphanet:228140 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2524 owl:Class MONDO:0000190 biolink:NamedThing ventricular fibrillation A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC) tmpaxzxjjyw_mondo_relaxed.owl fibrillation, ventricular|ventricular fibrillation (disease)|VFib|ventricular fibrillation|VF ventricular fibrillation (disease) NCIT:C50799|EFO:0004287|HP:0001663|UMLS:C0042510|MESH:D014693|SCTID:71908006|ICD9:427.41 owl:Class HGNC:11960 biolink:NamedThing GIGYF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002916 biolink:NamedThing brainstem intraparenchymal clear cell meningioma A morphologic variant of meningioma arising from the brain stem. It is characterized by the presence of clear glycogen-rich polygonal cells. tmpaxzxjjyw_mondo_relaxed.owl brain stem intraparenchymal clear cell meningioma|intraparenchymal clear cell meningioma of the brainstem|intraparenchymal clear cell meningioma of brainstem UMLS:C1332612|DOID:4209|NCIT:C5295 owl:Class MONDO:0002918 biolink:NamedThing clear cell meningioma A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells. tmpaxzxjjyw_mondo_relaxed.owl CCM|clear cell meningioma|clear cell meningioma (morphologic abnormality) MESH:D008579|UMLS:C0431121|EFO:1000180|ONCOTREE:CCM|NCIT:C4722|DOID:4210|ICDO:9538/1 owl:Class UBERON:0006671 biolink:NamedThing orbital fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003566 biolink:NamedThing head connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050802 biolink:NamedThing circadian sleep/wake cycle, sleep The part of the circadian sleep/wake cycle where the organism is asleep. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0022410 biolink:NamedThing circadian sleep/wake cycle process A behavioral process involved in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006537 biolink:NamedThing conjunctival pigmentation Pigmented lesions that arise from the conjunctiva include nevus, complexion-associated melanosis (CAM), primary acquired melanosis (PAM), and malignant melanoma.1,2All of these lesions arise from melanocytes. However, a number of other lesions have a similar appearance but a different source, such as pigment deposits from silver and iron. tmpaxzxjjyw_mondo_relaxed.owl SCTID:66081003|DOID:12304|ICD10:H11.13|UMLS:C0155163|ICD9:372.55|EFO:1000682 owl:Class MONDO:0001331 biolink:NamedThing conjunctival deposit tmpaxzxjjyw_mondo_relaxed.owl ICD9:372.56|UMLS:C0162280|ICD10:H11.11|DOID:11653|SCTID:62660000 owl:Class MONDO:0011174 biolink:NamedThing hyperzincemia with functional zinc depletion tmpaxzxjjyw_mondo_relaxed.owl hyperzincemia with functional zinc depletion OMIM:601979|UMLS:C1865986|MESH:C566595 owl:Class MONDO:0031013 biolink:NamedThing autoimmune optic neuritis An autoimmune form of optic neuritis. tmpaxzxjjyw_mondo_relaxed.owl DOID:0040089 owl:Class MONDO:0005885 biolink:NamedThing optic neuritis Optic neuritis is inflammation of the optic nerve, the nerve that carries the visual signal from the eye to the brain.The conditionmay cause sudden, reduced vision in the affected eye(s). While the cause of optic neuritis is unknown, it has been associated with autoimmune diseases, infections, multiple sclerosis, drug toxicity and deficiency of vitamin B-12. Vision often returns to normal within 2-3 weeks without treatment. In some cases, corticosteroids are given to speed recovery. If known, the underlying cause should be treated. tmpaxzxjjyw_mondo_relaxed.owl ICD9:377.30|ICD9:377.39|ICD9:377.3|SCTID:66760008|GARD:0007320|ICD10:H46.9|NCIT:C84950|ICD10:H46|MESH:D009902|EFO:0007405|DOID:1210 https://rarediseases.info.nih.gov/diseases/7320/optic-neuritis owl:Class UBERON:0003523 biolink:NamedThing manus blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003175 biolink:NamedThing salivary gland adenoid cystic carcinoma An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver. tmpaxzxjjyw_mondo_relaxed.owl adenoid cystic carcinoma (morphologic abnormality)|adenoid cystic carcinoma of the salivary gland|saliva-secreting gland adenoid cystic carcinoma|adenoid cystic cancer|salivary gland adenoid cystic carcinoma|adenoid cystic carcinoma of salivary gland|salivary gland adenoid cystic cancer|cylindroma (morphologic abnormality) MESH:D003528|GARD:0012346|NCIT:C8026|UMLS:C0010606|UMLS:C0279751|SCTID:422833009|DOID:4866 owl:Class MONDO:0023726 biolink:NamedThing mediastinal yolk sac tumor An extragonadal non-seminomatous malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of small pale cells with small amount of cytoplasm and round to oval nuclei with small nucleoli forming a variety of patterns, including microcystic, macrocystic, pseudopapillary, myxomatous, hepatoid, polyvesicular vitelline, and solid. It manifests with respiratory distress, thoracic pain, fever, and superior vena cava syndrome. tmpaxzxjjyw_mondo_relaxed.owl mediastinal endodermal sinus tumor|yolk Sac neoplasm of the mediastinum|endodermal sinus neoplasm of the mediastinum|mediastinal yolk Sac neoplasm|mediastinal yolk Sac tumor|mediastinal endodermal sinus tumors|endodermal sinus neoplasm of mediastinum|EST|endodermal sinus tumor of the mediastinum|endodermal sinus tumor of mediastinum|yolk Sac neoplasm of mediastinum|yolk Sac tumor of mediastinum|mediastinum yolk sac tumor|yolk Sac tumor of the mediastinum|mediastinal endodermal sinus neoplasm GARD:0008258|NCIT:C6443|UMLS:C1334683 owl:Class MONDO:0005744 biolink:NamedThing yolk sac tumor A non-seminomatous malignant germ cell tumor composed of primitive germ cells. It is the most common malignant germ cell tumor in the pediatric population. It occurs in the infant testis, ovary, sacrococcygeal region, vagina, uterus, prostate, abdomen, liver, retroperitoneum, thorax, and pineal/third ventricle. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). Treatment includes: surgical resection, radiation, and chemotherapy. This tumor is very responsive to chemotherapy regimens that include cisplatinum. tmpaxzxjjyw_mondo_relaxed.owl hepatoid yolk sac tumour|endodermal sinus tumor|infantile embryonal carcinoma|yolk Sac neoplasm|yolk Sac tumor|yolk SAC tumor, malignant|yolk Sac tumor site unspecified|yolk sac tumor|endodermal sinus neoplasm|yolk Sac tumour site unspecified ICD10:C62.9|ONCOTREE:BYST|UMLS:C0014145|SCTID:404081005|OMIM:273300|MedDRA:10048251|NCIT:C3011|DOID:1911|EFO:0007252|Orphanet:876|ICD10:C56|ICDO:9071/3 owl:Class GO:2000819 biolink:NamedThing regulation of nucleotide-excision repair Any process that modulates the frequency, rate or extent of nucleotide-excision repair. tmpaxzxjjyw_mondo_relaxed.owl regulation of interstrand crosslink repair|regulation of intrastrand cross-link repair|regulation of pyrimidine-dimer repair, DNA damage excision|regulation of NER owl:Class GO:0006282 biolink:NamedThing regulation of DNA repair Any process that modulates the frequency, rate or extent of DNA repair. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030332 biolink:NamedThing ciliary dyskinesia, primary, 46 tmpaxzxjjyw_mondo_relaxed.owl CILD46|ciliary dyskinesia, primary, 46 OMIM:619436 owl:Class GO:0000981 biolink:NamedThing DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. tmpaxzxjjyw_mondo_relaxed.owl RNA polymerase II transcription factor activity, metal ion regulated core promoter proximal region sequence-specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity|zinc ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding|copper ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, sequence-specific transcription regulatory region DNA binding|RNA polymerase II transcription factor activity, copper ion regulated core promoter proximal region sequence-specific binding|RNA polymerase II transcription factor activity, sequence-specific DNA binding|RNA polymerase II transcription factor activity, metal ion regulated sequence-specific DNA binding|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity|RNA polymerase II transcription factor activity, metal ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II transcription factor activity, zinc ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II transcription factor activity, zinc ion regulated core promoter proximal region sequence-specific DNA binding|transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding|transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding|RNA polymerase II transcription factor activity, copper ion regulated proximal promoter sequence-specific DNA binding|metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity|metal ion regulated sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity owl:Class MONDO:0021029 biolink:NamedThing genetic sebaceous gland anomaly An instance of sebaceous gland anomaly that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic sebaceous gland anomaly Orphanet:183460 owl:Class MONDO:0019286 biolink:NamedThing sebaceous gland anomaly A epidermal appendage anomaly that involves the sebaceous gland. tmpaxzxjjyw_mondo_relaxed.owl sebaceous gland epidermal appendage anomaly|epidermal appendage anomaly of sebaceous gland Orphanet:79372 owl:Class MONDO:0010079 biolink:NamedThing Canavan disease A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. tmpaxzxjjyw_mondo_relaxed.owl Aspa deficiency|spongy degeneration of central nervous system|aspartoacylase deficiency|Acy2 deficiency|spongy degeneration of the central nervous system|Asp deficiency|ACY2 deficiency|spongy degeneration of the brain|Canavan-Van Bogaert-Bertrand disease|Canavan disease|Canavan-VAN Bogaert-Bertrand disease|Von Bogaert-Bertrand disease|aminoacylase 2 deficiency|spongy Degeneration of central nervous system OMIM:271900|SCTID:80544005|DOID:3613|UMLS:C0206307|MESH:D017825|Orphanet:141|NCIT:C84611|ICD10:E75.2|MedDRA:10067608|GARD:0005984 https://rarediseases.info.nih.gov/diseases/5984/canavan-disease owl:Class MONDO:0014960 biolink:NamedThing encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy tmpaxzxjjyw_mondo_relaxed.owl encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy|encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL|PEBEL OMIMPS:617186|UMLS:C4310675 owl:Class MONDO:0024251 biolink:NamedThing Minamata disease A neurological syndrome caused by severe mercury poisoning. tmpaxzxjjyw_mondo_relaxed.owl Chisso-Minamata disease UMLS:CN200665|SCTID:39640004 owl:Class MONDO:0018020 biolink:NamedThing mercury poisoning Mercury poisoning is caused mainly through ingestion or inhalation of any of the 3 forms of mercury, elemental, organic, and inorganic. Exposure to elemental mercury affects the pulmonary (inhalation of mercury vapors causes coughing, chills, fever, shortness of breath), dermatological (mild swelling, vesiculation, scaling, irritation, urticaria, erythema and allergic contact dermatitis accompanied by pain), and peripheral and central nervous (CNS) systems (depression, paranoia, extreme irritability, hallucinations, inability to concentrate, memory loss, hands, head, lips, tongue, jaw and eyelids tremors, weight loss, perpetually low body temperature, drowsiness, headaches, insomnia, fatigue). Exposure to inorganic mercury generally causes development of a metallic taste, local oropharyngeal pain, nausea, vomiting, bloody diarrhea, colic abdominal pain, renal dysfunction and, neurologic abnormalities; while that to organic mercury can lead to delayed neurotoxicity. tmpaxzxjjyw_mondo_relaxed.owl Mercury intoxication|Mercury toxicity|mercurialism|hydrargyria Orphanet:330021|MESH:D008630|ICD9:985.0|GARD:0007021|EFO:1001810|ICD10:T56.1|SCTID:85180002 https://rarediseases.info.nih.gov/diseases/7021/mercury-poisoning owl:Class UBERON:0009662 biolink:NamedThing hindbrain nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011157 biolink:NamedThing Gomez-Lopez-Hernandez syndrome Lopez-Hernandez syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behaviour and bipolar disorder have also been reported. tmpaxzxjjyw_mondo_relaxed.owl Gómez-López-Hernández syndrome|Gomez-Lopez-Hernandez syndrome|GOMEZ-LOPEZ-HERNANDEZ syndrome|Cerebellotrigeminal dermal dysplasia|Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia|GLHS|Gomez-Lopez-Hernández syndrome|craniosynostosis-alopecia-brain defect syndrome|Cerebellotrigeminal-dermal dysplasia syndrome|Gomez Lopez Hernandez syndrome|Cerebellotrigeminal-dermal dysplasia MESH:C537285|Orphanet:1532|OMIM:601853|SCTID:722451006|ICD10:Q07.8|GARD:0000229 https://rarediseases.info.nih.gov/diseases/229/gomez-lopez-hernandez-syndrome owl:Class MONDO:0017118 biolink:NamedThing syndrome with a cerebellar malformation as major feature tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:269523|UMLS:CN202468 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0007988 biolink:NamedThing autosomal dominant primary microcephaly Autosomal dominant form of microcephaly (disease). tmpaxzxjjyw_mondo_relaxed.owl microcephaly (disease), autosomal dominant|autosomal dominant microcephaly|microcephaly, autosomal dominant|microcephaly autosomal dominant|microcephaly with autosomal dominant inheritance|autosomal dominant primary microcephaly GARD:0003605|ICD10:Q02|OMIM:616311|UMLS:C4755316|OMIM:156580|MESH:C537323|Orphanet:2514|DOID:14725 https://rarediseases.info.nih.gov/diseases/3605/microcephaly-autosomal-dominant|https://github.com/monarch-initiative/mondo/issues/3738 owl:Class MONDO:0015170 biolink:NamedThing congenital sodium diarrhea Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis. tmpaxzxjjyw_mondo_relaxed.owl Na-H exchange deficiency Orphanet:103908|SCTID:18805001|ICD10:P78.3|OMIM:616868|OMIM:270420 owl:Class MONDO:0015178 biolink:NamedThing congenital intestinal transport defect tmpaxzxjjyw_mondo_relaxed.owl Orphanet:104003 owl:Class MONDO:0003598 biolink:NamedThing median nerve neuropathy Disease involving the median nerve, from its origin at the brachial plexus to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (carpal tunnel syndrome). tmpaxzxjjyw_mondo_relaxed.owl peripheral neuropathy of median nerve|median nerve palsy|median nerve peripheral neuropathy|median neuropathy ICD9:354.1|MESH:D020423|DOID:571|SCTID:397828008|ICD10:G56.10|ICD10:G56.1 owl:Class MONDO:0005244 biolink:NamedThing peripheral neuropathy A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs. tmpaxzxjjyw_mondo_relaxed.owl neuropathy|peripheral nerve disorder|peripheral neuropathy DOID:870|NCIT:C119734|UMLS:C0442874|EFO:0004149|EFO:0003100|ICD10:G62.9|SCTID:386033004|SCTID:42658009|MedDRA:10034606|NCIT:C4731 Editor note: NCIT draws a distinction between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 owl:Class MONDO:0011341 biolink:NamedThing microcephaly, facial abnormalities, micromelia, and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl microcephaly, facial abnormalities, micromelia, and intellectual disability|microcephaly, facial abnormalities, micromelia, and mental retardation UMLS:C1863702|OMIM:603572|MESH:C566361 owl:Class HP:0008062 biolink:NamedThing Aplasia/Hypoplasia affecting the anterior segment of the eye Absence or underdevelopment of the anterior segment of the eye. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4024739 peter 2008-04-02T03:33:00Z human_phenotype owl:Class HP:0008056 biolink:NamedThing Aplasia/Hypoplasia affecting the eye tmpaxzxjjyw_mondo_relaxed.owl Absent/small eye|Absent/underdeveloped eye UMLS:C4024745 peter 2008-04-02T03:25:00Z human_phenotype owl:Class MONDO:0007009 biolink:NamedThing ureterolithiasis The presence of a calculus in the ureter of the kidney; this is most often composed of mineral salts and proteins. tmpaxzxjjyw_mondo_relaxed.owl calculus of ureter|ureteric stone|ureteric calculus SCTID:31054009|MESH:D053039|DOID:14146|ICD9:592.1|NCIT:C114696|EFO:1001228|UMLS:C0041952 owl:Class MONDO:0025369 biolink:NamedThing Nairobi sheep disease An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis. tmpaxzxjjyw_mondo_relaxed.owl sheep disease, Nairobi|disease, Nairobi sheep MESH:D009265|UMLS:C0027345|SCTID:24069003 owl:Class MONDO:0024985 biolink:NamedThing sheep disease Diseases of domestic and mountain sheep of the genus Ovis. tmpaxzxjjyw_mondo_relaxed.owl diseases, sheep|disease, sheep|sheep disease|diseases, Ovine|Ovine disease|Ovine diseases|disease, Ovine MESH:D012757|UMLS:C0036946 owl:Class GO:0043549 biolink:NamedThing regulation of kinase activity Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051798 biolink:NamedThing positive regulation of hair follicle development Any process that activates or increases the frequency, rate or extent of hair follicle development. tmpaxzxjjyw_mondo_relaxed.owl activation of hair follicle development|stimulation of hair follicle development|up-regulation of hair follicle development|upregulation of hair follicle development|up regulation of hair follicle development owl:Class MONDO:0009049 biolink:NamedThing Cushing syndrome due to macronodular adrenal hyperplasia ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS. tmpaxzxjjyw_mondo_relaxed.owl MMAD|primary bilateral macronodular adrenal hyperplasia|corticotropin-independent macronodular adrenal hyperplasia|ACTH-independent macronodular adrenocortical hyperplasia|ACTH-independent Cushing syndrome|AIMAH|massive macronodular adrenocortical disease|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia|primary macronodular adrenal hyperplasia UMLS:C2062388|GARD:0010824|OMIM:615954|SCTID:720459002|MESH:C565662|OMIM:219080|Orphanet:189427|UMLS:CN200644|ICD10:E24.8 https://rarediseases.info.nih.gov/diseases/10824/acth-independent-macronodular-adrenal-hyperplasia owl:Class MONDO:0024571 biolink:NamedThing AIDS-related disorder A non-neoplastic or neoplastic disorder arising as a result of the immunologic defects caused by Autoimmune deficiency Syndrome. tmpaxzxjjyw_mondo_relaxed.owl AIDS-related complications|AIDS/HIV - relatedDisease associated with AIDS|AIDS-related disorder|disease associated with AIDS NCIT:C4991|UMLS:C0877121 owl:Class UBERON:0003922 biolink:NamedThing pancreatic epithelial bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005911 biolink:NamedThing endo-epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000508 biolink:NamedThing type G enteroendocrine cell An endocrine cell found in the pyloric gland mucosa (antral mucosa) of the stomach of mammals and responsible for the secretion of gastrin and enkephalin. Most abundant in pyloric antrum, pyramidal in form with a narrow apex bearing long microvilli. tmpaxzxjjyw_mondo_relaxed.owl G cell BTO:0004108|FMA:67609 cell owl:Class CL:0000509 biolink:NamedThing gastrin secreting cell A peptide hormone secreting cell that secretes gastrin. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class HP:0031899 biolink:NamedThing Abnormal coagulation factor V activity Any deviation from the activity of coagulation factor V. tmpaxzxjjyw_mondo_relaxed.owl Abnormal factor V activity 2018-05-19 15:11:38+00:00 Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. peter human_phenotype owl:Class HP:0010990 biolink:NamedThing Abnormality of the common coagulation pathway An abnormality of blood coagulation, common pathway. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023609 The common pathway is a protein activation cascade that contributes to blood coagulation and consists of events leading from the formation of activated factor X to the formation of active thrombin, the cleavage of fibrinogen by thrombin, and the formation of cleaved fibrin into a stable multimeric, cross-linked complex. peter 2011-02-08T04:31:53Z human_phenotype owl:Class MONDO:0017393 biolink:NamedThing blepharophimosis - intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl Say Barber Biesecker Young-Simpson syndrome|Young Simpson syndrome|blepharophimosis mental retardation syndromes|BMRS|blepharophimosis intellectual disability syndromes|blepharophimosis syndrome Ohdo type|SBBYS syndrome Orphanet:293642|UMLS:CN203134|GARD:0010892 owl:Class MONDO:0014951 biolink:NamedThing Sotos syndrome 3 Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene. tmpaxzxjjyw_mondo_relaxed.owl APC2 Sotos syndrome|Sotos syndrome caused by mutation in APC2|Sotos syndrome 3|SOTOS3|Sotos syndrome type 3 OMIM:617169|UMLS:C4310684 owl:Class MONDO:0019349 biolink:NamedThing Sotos syndrome Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl Sotos syndrome|cerebral gigantism|distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development|Sotos' syndrome|cerebral gigantism syndrome MESH:D058495|ICD10:Q87.3|UMLS:C0175695|OMIM:614753|NCIT:C75019|UMLS:CN239475|GARD:0010091|MedDRA:10064387|Orphanet:821|OMIM:617169|OMIMPS:117550|SCTID:75968004|DOID:14748|OMIM:117550 owl:Class MONDO:0000105 biolink:NamedThing anemia, nonspherocytic hemolytic tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003430 biolink:NamedThing neck nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001021 biolink:NamedThing nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1900404 biolink:NamedThing positive regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of DNA repair. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|stimulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|upregulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|up regulation of DNA repair by positive regulation of transcription from RNA polymerase II promoter|activation of DNA repair by positive regulation of transcription from RNA polymerase II promoter owl:Class GO:0045944 biolink:NamedThing positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of transcription from RNA polymerase II promoter|activation of transcription from RNA polymerase II promoter|up regulation of global transcription from RNA polymerase II promoter|up-regulation of global transcription from RNA polymerase II promoter|activation of global transcription from RNA polymerase II promoter|upregulation of global transcription from RNA polymerase II promoter|up regulation of transcription from RNA polymerase II promoter|stimulation of global transcription from RNA polymerase II promoter|positive regulation of global transcription from Pol II promoter|positive regulation of transcription from RNA polymerase II promoter, global|stimulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|upregulation of transcription from RNA polymerase II promoter|positive regulation of transcription from Pol II promoter owl:Class HP:0030159 biolink:NamedThing Cervical polyp Abnormal growth of tissue projecting from a mucous membrane of the endocervix. tmpaxzxjjyw_mondo_relaxed.owl Cervical tumor|Cervical tumour UMLS:C0007855|SNOMEDCT_US:123841004|UMLS:C0007873|MSH:D002583|SNOMEDCT_US:65576009 human_phenotype owl:Class HP:0012888 biolink:NamedThing Abnormality of the uterine cervix An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4022694 hecht 2014-06-11T09:40:02Z human_phenotype owl:Class MONDO:0003212 biolink:NamedThing nasal cavity carcinoma A carcinoma that arises from epithelial cells of the nasal cavity tmpaxzxjjyw_mondo_relaxed.owl nasal cavity cancer|cancer of nasal cavity|nasal cavity carcinoma|carcinoma of nasal cavity|carcinoma of the nasal cavity|cancer of the nasal cavity UMLS:C1377785|SCTID:448990005|DOID:4931|NCIT:C9336 owl:Class MONDO:0002038 biolink:NamedThing head and neck carcinoma A carcinoma that arises from the head and neck region. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. tmpaxzxjjyw_mondo_relaxed.owl head and neck carcinoma|head and neck cancer|carcinoma of neck|carcinoma of head and neck|carcinoma of the neck|carcinoma of the head and neck|neck carcinoma|carcinoma of craniocervical region|craniocervical region carcinoma UMLS:C1334927|UMLS:C3887461|NCIT:C35850|DOID:1542 owl:Class MONDO:0014788 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2W Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 2w|autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2|LIMS2 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2W|LGMD2W Orphanet:466801|DOID:0110288|OMIM:616827|UMLS:C4225192 owl:Class MONDO:0018066 biolink:NamedThing trisomy X Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). tmpaxzxjjyw_mondo_relaxed.owl 47,XXX syndrome|trisomy type X|Triplo X syndrome|triple-X female|triple X syndrome|triple-X chromosome syndrome|47 XXX syndrome|Triplo-X syndrome|trisomy X|47,XXX|XXX syndrome SCTID:35111009|Orphanet:3375|ICD10:Q97.0|NCIT:C129718|MESH:C535318|UMLS:C0221033|GARD:0005672 https://rarediseases.info.nih.gov/diseases/5672/47-xxx-syndrome owl:Class MONDO:0019852 biolink:NamedThing inherited primary ovarian failure An instance of primary ovarian failure that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl inherited premature ovarian failure|non-acquired premature ovarian failure|hereditary primary ovarian failure OMIM:612885|OMIM:613291|OMIM:611548|OMIMPS:311360|OMIM:612310|OMIM:300510|OMIM:311360|OMIM:615724|OMIM:615723|OMIM:608996|Orphanet:95710|OMIM:612964|OMIM:300511|OMIM:300604|ICD10:E28.3 owl:Class MONDO:0008299 biolink:NamedThing posterior column ataxia tmpaxzxjjyw_mondo_relaxed.owl Biemond ataxia|posterior column ataxia MESH:C536342|OMIM:176250|UMLS:C1867923|GARD:0010044 https://rarediseases.info.nih.gov/diseases/10044/posterior-column-ataxia owl:Class UBERON:0001238 biolink:NamedThing lamina propria of small intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000030 biolink:NamedThing lamina propria tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018226 biolink:NamedThing pulmonary part of lymphatic system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011216 biolink:NamedThing organ system subdivision tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10848 biolink:NamedThing SHH tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000547 biolink:NamedThing proerythroblast An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. tmpaxzxjjyw_mondo_relaxed.owl pronormoblast|rubriblast FMA:83518 cell owl:Class CL:0002242 biolink:NamedThing nucleate cell A cell containing at least one nucleus. tmpaxzxjjyw_mondo_relaxed.owl FMA:67513 tmeehan 2010-09-07T03:32:33Z cell owl:Class UBERON:0002079 biolink:NamedThing left cardiac atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035553 biolink:NamedThing left cardiac chamber tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017589 biolink:NamedThing follicular cholangitis and pancreatitis Follicular cholangitis and pancreatitis is a rare pancreatobiliary disease characterized by marked duct-centered lymphoid follicular inflammation that develops in both biliary and pancreatic ductal systems, mainly affecting the hilar bile ducts and the pancreatic head. Patients present with jaundice, abdominal pain, liver dysfunction, pruritus and/or weight loss. Histology shows lymphoplasmacytic infiltration with formation of numerous, large lymphpoid follicles around the affected bile and pancreatic ducts. tmpaxzxjjyw_mondo_relaxed.owl follicular pancreatocholangitis Orphanet:300552 owl:Class MONDO:0002356 biolink:NamedThing pancreas disorder A non-neoplastic or neoplastic disorder that affects the pancreas. Representative examples of non-neoplastic disorders include pancreatitis and pancreatic insufficiency. Representative examples of neoplastic disorders include cystadenomas, carcinomas, lymphomas, and neuroendocrine neoplasms. tmpaxzxjjyw_mondo_relaxed.owl pancreatic disorder|disease, pancreatic|diseases, pancreatic|pancreatic disease|pancreas disease or disorder|disease of pancreas|pancreas disease|disorder of pancreas|disease or disorder of pancreas ICD9:577.8|SCTID:3855007|NCIT:C26842|MESH:D010182|DOID:26|ICD9:577.9|ICD10:K86.8 owl:Class PATO:0001544 biolink:NamedThing flexible A physical quality inhering in a bearer by virtue of the bearer's ability of being turned, bowed, or twisted without breaking. tmpaxzxjjyw_mondo_relaxed.owl bendy owl:Class PATO:0001543 biolink:NamedThing flexibility A physical quality inhering in a bearer by virtue of the bearer's disposition to being turned, bowed, or twisted without breaking. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050680 biolink:NamedThing negative regulation of epithelial cell proliferation Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of epithelial cell proliferation|down-regulation of epithelial cell proliferation|down regulation of epithelial cell proliferation|inhibition of epithelial cell proliferation owl:Class GO:0050678 biolink:NamedThing regulation of epithelial cell proliferation Any process that modulates the frequency, rate or extent of epithelial cell proliferation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043244 biolink:NamedThing regulation of protein-containing complex disassembly Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. tmpaxzxjjyw_mondo_relaxed.owl regulation of protein complex disassembly owl:Class GO:0051128 biolink:NamedThing regulation of cellular component organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpaxzxjjyw_mondo_relaxed.owl regulation of cell organisation|regulation of cell organization|regulation of cellular component organization and biogenesis|regulation of cellular component organisation owl:Class MONDO:0017950 biolink:NamedThing microcephalic primordial dwarfism tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN437676|Orphanet:324761|ICD10:Q87.1 owl:Class MONDO:0000535 biolink:NamedThing tonsil squamous cell carcinoma A squamous cell carcinoma that involves the tonsil. tmpaxzxjjyw_mondo_relaxed.owl tonsil squamous cell carcinoma DOID:0050920 owl:Class GO:0050805 biolink:NamedThing negative regulation of synaptic transmission Any process that stops, prevents, or reduces the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of synaptic transmission|downregulation of synaptic transmission|inhibition of synaptic transmission|down regulation of synaptic transmission owl:Class UBERON:0005173 biolink:NamedThing abdominal segment element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000062 biolink:NamedThing organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006706 biolink:NamedThing steroid catabolic process The chemical reactions and pathways resulting in the breakdown of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpaxzxjjyw_mondo_relaxed.owl steroid breakdown|steroid degradation|steroid catabolism owl:Class GO:0008202 biolink:NamedThing steroid metabolic process The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpaxzxjjyw_mondo_relaxed.owl steroid metabolism owl:Class MONDO:0032582 biolink:NamedThing nephrotic syndrome, type 19 tmpaxzxjjyw_mondo_relaxed.owl NPHS19|NEPHROTIC SYNDROME, TYPE 19 DOID:0080394|OMIM:618178 owl:Class HGNC:9080 biolink:NamedThing PLN tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0120032 biolink:NamedThing regulation of plasma membrane bounded cell projection assembly Any process that modulates the rate, frequency, or extent of plasma membrane bounded cell projection assembly. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060491 biolink:NamedThing regulation of cell projection assembly Any process that modulates the rate, frequency, or extent of cell projection assembly. tmpaxzxjjyw_mondo_relaxed.owl regulation of cell projection formation owl:Class MONDO:0014308 biolink:NamedThing familial temporal lobe epilepsy 6 A temporal lobe epilepsy that has material basis in variation in the chromosome region 3q25-q26. tmpaxzxjjyw_mondo_relaxed.owl epilepsy, familial temporal lobe, 6|familial temporal lobe epilepsy type 6|ETL6 UMLS:C3810320|DOID:0060749|OMIM:615697|Orphanet:163717 Editor note: TODO owl:Class MONDO:0005115 biolink:NamedThing temporal lobe epilepsy A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see epilepsy, complex partial) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321) tmpaxzxjjyw_mondo_relaxed.owl epilepsy, temporal lobe|epilepsy of temporal lobe|epilepsy, familial temporal lobe|temporal lobe epilepsy OMIM:616436|UMLS:C0014556|DOID:3328|OMIM:616461|SCTID:193000002|NIFSTD:birnlex_12733|MESH:D004833|EFO:0000773|OMIMPS:600512 owl:Class MONDO:0009038 biolink:NamedThing craniosynostosis-fibular aplasia syndrome Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972. tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis with fibular aplasia|Lowry syndrome MESH:C565665|Orphanet:1533|UMLS:C1857492|OMIM:218550|ICD10:Q87.2|SCTID:732250002 owl:Class MONDO:0030986 biolink:NamedThing blistering, acantholytic, of oral and laryngeal mucosa tmpaxzxjjyw_mondo_relaxed.owl ABOLM OMIM:619226 owl:Class MONDO:0032808 biolink:NamedThing developmental and epileptic encephalopathy, 77 tmpaxzxjjyw_mondo_relaxed.owl EIEE77|glycosylphosphatidylinositol biosynthesis defect 19|multiple congenital anomalies-hypotonia-seizures syndrome 4|epileptic encephalopathy, early infantile, 77|DEE77 OMIM:618548 owl:Class MONDO:0100247 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:614080 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0003177 biolink:NamedThing prostate adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the prostate gland. tmpaxzxjjyw_mondo_relaxed.owl adenoid cystic carcinoma of prostate|adenoid cystic carcinoma of the prostate|prostate adenoid cystic carcinoma|prostate gland adenoid cystic carcinoma DOID:4868|UMLS:C1335502|NCIT:C5539 owl:Class MONDO:0005082 biolink:NamedThing prostate adenocarcinoma A carcinoma that arises from glandular epithelial cells of the prostate gland tmpaxzxjjyw_mondo_relaxed.owl prostate adenocarcinoma|prad|prostate gland adenocarcinoma|adenocarcinoma of the prostate|adenocarcinoma of prostate SCTID:399490008|NCIT:C2919|EFO:0000673|ONCOTREE:PRAD|UMLS:C0007112|DOID:2526 owl:Class MONDO:0010825 biolink:NamedThing atrioventricular defect-blepharophimosis-radial and anal defect syndrome Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. tmpaxzxjjyw_mondo_relaxed.owl Houlston-Ironton-Temple syndrome|atrioventricular septal defect with blepharophimosis and anal and radial defects ICD10:Q87.8|Orphanet:1352|UMLS:C1838606|OMIM:600123|MESH:C563994 owl:Class MONDO:0005267 biolink:NamedThing heart disorder A disease involving the heart and/or pericardium. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of heart|disorder of heart/pericardium|cardiac disease|heart/pericardial disease|disease of heart|heart/pericardial trouble|heart/pericardial disease or disorder|heart trouble|heart disease or disorder|heart disorder|heart disease|disorder of heart|heart/pericardial disorder NCIT:C3079|DOID:114|UMLS:CN236661|UMLS:CN239852|ICD9:429.9|ICD9:429.89|MESH:D006331|ICD9:V47.2|ICD10:I51.9|EFO:0003777|UMLS:C0018799|SCTID:56265001 owl:Class PATO:0001985 biolink:NamedThing frozen A quality inhering in a bearer by virtue of the bearer's being kept below its freezing point. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0000146 biolink:NamedThing temperature A physical quality of the thermal energy of a system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010221 biolink:NamedThing laryngeal associated mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007524 biolink:NamedThing dense mesenchyme tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0005445 biolink:NamedThing Enlarged posterior fossa Abnormal increased size of the posterior cranial fossa. tmpaxzxjjyw_mondo_relaxed.owl Widened posterior fossa UMLS:C1855889 human_phenotype owl:Class HP:0000932 biolink:NamedThing Abnormal posterior cranial fossa morphology An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. tmpaxzxjjyw_mondo_relaxed.owl Posterior fossa anomaly|Abnormality of the posterior cranial fossa|Abnormality of the posterior fossa UMLS:C3280768 The floor of the cranial cavity is divided into three distinct depressions called the anterior, middle, and posterior cranial fossa. The posterior cranial fossa, the most posterior and deep of the three cranial fossae, accommodates the brainstem and cerebellum. Abnormalities of the posterier cranial fossa can be demonstrated by cerebral magnetic resonance imaging or computer tomography. HP:0007306 human_phenotype owl:Class MONDO:0020788 biolink:NamedThing hypomagnesemia, seizures, and intellectual disability 2 tmpaxzxjjyw_mondo_relaxed.owl HOMGSMR2|HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 OMIM:618314 owl:Class MONDO:0014631 biolink:NamedThing hypomagnesemia, seizures, and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl HOMGSMR|hypomagnesemia, seizures, and intellectual disability|hypomagnesemia, seizures, and mental retardation Orphanet:34527|OMIMPS:616418|UMLS:C4225333 owl:Class MONDO:0021450 biolink:NamedThing benign neoplasm of heart A benign neoplasm that involves the heart. tmpaxzxjjyw_mondo_relaxed.owl benign heart tumor|heart benign neoplasm|benign heart neoplasm|benign Cardiac tumor|benign tumor of the heart|benign tumor of heart|benign neoplasm of the heart|benign Cardiac neoplasm ICD10:D15.1|SCTID:92132009|UMLS:C0153957|ICD9:212.7|NCIT:C3605 owl:Class UBERON:0004950 biolink:NamedThing submucosa of lobar bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013238 biolink:NamedThing future glans tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005423 biolink:NamedThing developing anatomical structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010539 biolink:NamedThing X-linked mandibulofacial dysostosis X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum. tmpaxzxjjyw_mondo_relaxed.owl X-linked branchial arch syndrome|MFD Toriello type|mandibulofacial dysostosis, Toriello type|branchial arch syndrome, X-linked|mandibulofacial dysostosis, X-linked|X-linked mandibulofacial dysostosis with limb anomalies|branchial arch syndrome X-linked|mandibulofacial dysostosis Toriello type UMLS:C1844918|SCTID:719813003|Orphanet:1131|GARD:0001002|MESH:C537102|OMIM:301950|ICD10:Q75.4 owl:Class MONDO:0005179 biolink:NamedThing ovarian adenoma benign A benign adenoma of ovary tmpaxzxjjyw_mondo_relaxed.owl EFO:0002507 owl:Class MONDO:0002229 biolink:NamedThing ovarian epithelial tumor A benign, borderline, or malignant tumor that originates from the surface epithelium of the ovary. It is composed of epithelial cells and stroma. Representative examples of benign tumors include serous cystadenoma, mucinous cystadenoma, and benign Brenner tumor. Representative examples of borderline tumors include serous surface papillary tumor, mucinous adenofibroma, and borderline Brenner tumor. Representative examples of malignant tumors include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, and malignant Brenner tumor. tmpaxzxjjyw_mondo_relaxed.owl epithelial tumor of ovary|ovarian epithelial tumor|ovarian surface-epithelial stromal neoplasm|epithelial tumor of the ovary|ovarian surface epithelial-stromal tumor|ovary epithelial neoplasm|epithelial neoplasm of the ovary|OVT|ovary epithelial cancer|epithelial neoplasm of ovary DOID:2152|ICD9:239.5|ONCOTREE:OVT|SCTID:237057005|NCIT:C4381|UMLS:C0341823 owl:Class MONDO:0014274 biolink:NamedThing L-ferritin deficiency tmpaxzxjjyw_mondo_relaxed.owl LFTD|L-ferritin deficiency UMLS:C3810090|Orphanet:440731|OMIM:615604 owl:Class MONDO:0037736 biolink:NamedThing infratentorial neoplasm A benign or malignant neoplasm that occurs in brain parenchymal tissue below the tentorium cerebelli. tmpaxzxjjyw_mondo_relaxed.owl neoplasms, infratentorial|infratentorial tumor|infratentorial neoplasm|infratentorial tumors|brain neoplasms, infratentorial|infratentorial neoplasms NCIT:C3139 owl:Class CL:0000458 biolink:NamedThing serotonin secreting cell A cell type that secretes 5-Hydroxytryptamine (serotonin). tmpaxzxjjyw_mondo_relaxed.owl 5-HT secreting cell|5-Hydroxytryptamine secreting cell cell owl:Class GO:0098632 biolink:NamedThing cell-cell adhesion mediator activity The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell. tmpaxzxjjyw_mondo_relaxed.owl cell-cell adhesion molecule|protein binding involved in cell-cell adhesion owl:Class GO:0098631 biolink:NamedThing cell adhesion mediator activity The binding by a cell-adhesion protein on a cell surface to an adhesion molecule on another cell surface, to mediate adhesion of the cell to the external substrate or to another cell. tmpaxzxjjyw_mondo_relaxed.owl cell adhesion molecule|protein binding involved in cell adhesion owl:Class MONDO:0007542 biolink:NamedThing Camurati-Engelmann disease Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. tmpaxzxjjyw_mondo_relaxed.owl diaphyseal dysplasia|progressive diaphyseal dysplasia|diaphyseal dysplasia 1, progressive|Camurati-Engelmann syndrome|Engelmann disease|Camurati-Engelmann disease|CED|DPD1|Engelman's disease|Camurati-Englemann disease|CAEND UMLS:C0011989|SCTID:318761000119105|GARD:0001072|OMIM:606631|ICD10:Q78.3|Orphanet:1328|ICD9:756.59|NCIT:C84610|OMIM:131300|DOID:4997 owl:Class MONDO:0019703 biolink:NamedThing primary bone dysplasia with increased bone density tmpaxzxjjyw_mondo_relaxed.owl sclerosing bone dysplasia|primary skeletal dysplasia with increased bone density|primary osteodysplasia with increased bone density 2022-01-01 Orphanet:93444|UMLS:CN043667 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class UBERON:0013509 biolink:NamedThing lumbar vertebra cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:2001457 biolink:NamedThing postcranial axial cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007284 biolink:NamedThing presumptive neural plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006598 biolink:NamedThing presumptive structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020815 biolink:NamedThing dentigerous cyst Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation. tmpaxzxjjyw_mondo_relaxed.owl Dentigerous cyst|dentigerous odontogenic cyst|Dentigerous odontogenic cyst|dentigerous cyst|follicular cyst of jaw|Dentigerous Cyst|Cysts, Dentigerous|dentigerous cyst of jaw|Cyst, Dentigerous|Dentigerous cyst of jaw|Dentigerous Cysts MESH:D003803|UMLS:C0011428|SCTID:9245008 owl:Class UBERON:0000956 biolink:NamedThing cerebral cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016548 biolink:NamedThing central nervous system gray matter layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009247 biolink:NamedThing frontofacionasal dysplasia Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes). tmpaxzxjjyw_mondo_relaxed.owl Ffnd|fronto-facio-nasal dyplasia|Gollop syndrome|fronto-facio-nasal dysostosis|frontofacionasal dysplasia|Frontofacionasal dysostosis UMLS:C2931720|SCTID:716022002|Orphanet:1791|OMIM:229400|MESH:C538063|ICD10:Q75.8|GARD:0002390 https://rarediseases.info.nih.gov/diseases/2390/frontofacionasal-dysplasia owl:Class GO:1902668 biolink:NamedThing negative regulation of axon guidance Any process that stops, prevents or reduces the frequency, rate or extent of axon guidance. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of axon growth cone guidance|down regulation of axon pathfinding|inhibition of axon pathfinding|negative regulation of axon chemotaxis|inhibition of axon chemotaxis|down regulation of axon guidance|downregulation of axon chemotaxis|inhibition of axon guidance|down regulation of axon chemotaxis|inhibition of axon growth cone guidance|negative regulation of axon pathfinding|negative regulation of axon growth cone guidance|downregulation of axon guidance|downregulation of axon growth cone guidance|down-regulation of axon chemotaxis|downregulation of axon pathfinding|down regulation of axon growth cone guidance|down-regulation of axon pathfinding|down-regulation of axon guidance owl:Class MONDO:0002732 biolink:NamedThing lung benign neoplasm A non-metastasizing neoplasm that arises from the lung parenchyma or the bronchi. Representative examples include lung adenoma, lung hamartoma, and endobronchial lipoma. tmpaxzxjjyw_mondo_relaxed.owl benign lung neoplasm|benign lung tumor|benign tumor of the lung|tumor of the lung|lung benign neoplasm|benign neoplasm of lung|benign tumor of lung|benign neoplasm of the lung NCIT:C4454|MESH:D008175|SCTID:126713003|DOID:3683|NCIT:C3200 owl:Class OBO:CHR_9606-chr20p12 biolink:NamedThing 20p12 (Human) tmpaxzxjjyw_mondo_relaxed.owl 17900000 5100000 hg38 owl:Class HGNC:7737 biolink:NamedThing NEFH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005880 biolink:NamedThing oesophagostomiasis Infection of the intestinal tract with worms of the genus oesophagostomum. This condition occurs mainly in animals other than humans. tmpaxzxjjyw_mondo_relaxed.owl Oesophagostomum infectious disease|infection by Oesophagostomum|Oesophagostomum caused disease or disorder|Oesophagostomum disease or disorder EFO:0007400|ICD9:127.7|SCTID:22500005|DOID:3983|UMLS:C0028887|MESH:D009814 owl:Class MONDO:0009983 biolink:NamedThing retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome|retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome|insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and intellectual disability|retinitis pigmentosa, deafness, mental retardation, and hypogonadism|insulin-resistant diabetes with acanthosis nigricans, hypogonadism, pigmentary retinopathy, deafness, and mental retardation|retinitis pigmentosa, deafness, intellectual disability, and hypogonadism|retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome GARD:0004683|MESH:C564841|ICD10:Q87.8|UMLS:C1849401|Orphanet:3085|OMIM:268020 owl:Class UBERON:0006603 biolink:NamedThing presumptive mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011273 biolink:NamedThing nail of manual digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001705 biolink:NamedThing nail tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030312 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 29 tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with hypotonia and cerebellar ataxia|SCAR29|spinocerebellar ataxia, autosomal recessive 29|Barakat-Van Ham-Kaya syndrome OMIM:619389 owl:Class MONDO:0015244 biolink:NamedThing autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years. tmpaxzxjjyw_mondo_relaxed.owl arca|cerebellar ataxia, autosomal recessive Orphanet:1172|UMLS:CN226644|OMIMPS:213200|DOID:0050950 owl:Class HGNC:6144 biolink:NamedThing ITGA8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016430 biolink:NamedThing Balo concentric sclerosis Tumefactive multiple sclerosis is characterized by a tumor-like lesion larger than two centimeters and signs and symptoms similar to those of a brain tumor. It is a rare form of multiple sclerosis (MS). Symptoms of tumefactive MS often differ from other MS cases and may include, headaches, changes in thinking, confusion, speech problems, seizures, and weakness. The cause of tumefactive MS is not known. It often develops into the relapsing-remitting form of MS. In other cases there is only one occurrence of the condition. In still others the disease process remains less clear. While there is no cure for tumefactive MS, treatments such as corticosteroids are available to decrease disease activity. tmpaxzxjjyw_mondo_relaxed.owl Balo disease|concentric demyelination|Balo concentric sclerosis|encephalitis periaxialis concentrica|diffuse cerebral sclerosis of Schilder|Balo's disease|Baló concentric sclerosis|Balo's concentric sclerosis|Marburg variant|Tumefactive multiple sclerosis UMLS:C0205710|ICD10:G37.0|SCTID:230380005|UMLS:C0007795|ICD10:G31.81|GARD:0005885|UMLS:C0004712|ICD9:341.1|DOID:0060215|ICD10:G37.5|SCTID:49692006|NCIT:C35257|MedDRA:10010252|SCTID:20415001|Orphanet:228165 https://rarediseases.info.nih.gov/diseases/5885/tumefactive-multiple-sclerosis owl:Class MONDO:0016428 biolink:NamedThing multiple sclerosis variant tmpaxzxjjyw_mondo_relaxed.owl Orphanet:228145 owl:Class UBERON:0010363 biolink:NamedThing endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004765 biolink:NamedThing skeletal element tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0034220 biolink:NamedThing ion transmembrane transport A process in which an ion is transported across a membrane. tmpaxzxjjyw_mondo_relaxed.owl ATP hydrolysis coupled ion transmembrane transport|transmembrane ion transport|ion membrane transport owl:Class GO:0006811 biolink:NamedThing ion transport The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017031 biolink:NamedThing primary interstitial lung disease in childhood and adulthood tmpaxzxjjyw_mondo_relaxed.owl primary ILD in childhood and adulthood Orphanet:264762|UMLS:CN202342 owl:Class MONDO:0017030 biolink:NamedThing interstitial lung disease in childhood and adulthood tmpaxzxjjyw_mondo_relaxed.owl ILD in childhood and adulthood Orphanet:264757|UMLS:CN202341 owl:Class MONDO:0019078 biolink:NamedThing Ritscher-Schinzel syndrome Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. tmpaxzxjjyw_mondo_relaxed.owl Ritscher Schinzel syndrome|Dandy-Walker like malformation with atrioventricular septal defect|Craniocerebellocardiac dysplasia|Dandy-Walker-like malformation with ASD|CCC dysplasia|Ritscher-Schinzel cranio-cerebello-cardiac syndrome|cranio-cerebello-cardiac dysplasia|craniocerebellocardiac dysplasia|3C syndrome|Ritscher-Schinzel syndrome|Dandy-Walker-like malformation with atrioventricular septal defect UMLS:C0796137|MESH:C535313|OMIM:220210|SCTID:718556007|ICD10:Q87.8|Orphanet:7|GARD:0005666|DOID:0060565|OMIM:300963|OMIMPS:220210 https://rarediseases.info.nih.gov/diseases/5666/dandy-walker-like-malformation-with-atrioventricular-septal-defect owl:Class MONDO:0015737 biolink:NamedThing typical nemaline myopathy Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement. tmpaxzxjjyw_mondo_relaxed.owl typical congenital nemaline myopathy OMIM:256030|OMIM:616165|OMIM:615731|OMIM:161800|OMIM:609285|Orphanet:171436|ICD10:G71.2|GARD:0012822|OMIM:610687 owl:Class MONDO:0018958 biolink:NamedThing nemaline myopathy Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy. tmpaxzxjjyw_mondo_relaxed.owl NEM|Rod-body myopathy|Rod body disease|nemaline rod disease|nemaline body disease|congenital rod disease|nemaline myopathy|NM|rod myopathy|nemaline rod myopathy GARD:0012033|OMIMPS:161800|DOID:3191|MESH:D017696|Orphanet:607|ICD10:G71.2|UMLS:C0206157|SCTID:75072002 owl:Class MONDO:0017780 biolink:NamedThing 20p13 microdeletion syndrome 20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported. tmpaxzxjjyw_mondo_relaxed.owl 20p subtelomeric deletion syndrome|monosomy 20p13|Del(20)(p13) Orphanet:313781|ICD10:Q93.5|UMLS:CN203720 owl:Class MONDO:0016898 biolink:NamedThing partial monosomy of the short arm of chromosome 20 tmpaxzxjjyw_mondo_relaxed.owl Pure partial 20p deletion|deletion 20p|partial deletion of chromosome 20p|monosomy 20p|partial monosomy of chromosome 20p|partial monosomy of the short arm of chromosome type 20|chromosome 20p deletion|20p monosomy|20p deletion|partial deletion of the short arm of chromosome 20|partial monosomy 20p GARD:0003739|Orphanet:261992|ICD10:Q93.5|MESH:C535370|UMLS:CN036364 owl:Class MONDO:0010833 biolink:NamedThing Hirschsprung disease, susceptibility to, 2 Any Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene. tmpaxzxjjyw_mondo_relaxed.owl susceptibility to Hirschsprung disease 2|Hirschsprung disease caused by mutation in EDNRB|Hirschsprung disease type 2|EDNRB Hirschsprung disease|Hirschsprung disease, susceptibility to, 2|Hirschsprung disease, susceptibility to, type 2|HSCR2 Orphanet:388|GARD:0002698|OMIM:600155 https://rarediseases.info.nih.gov/diseases/2698/hirschsprung-disease-type-2 owl:Class MONDO:0018309 biolink:NamedThing Hirschsprung disease Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon. tmpaxzxjjyw_mondo_relaxed.owl pelvirectal achalasia|congenital intestinal aganglionosis|Hirschsprung disease|macrocolon|aganglionic megacolon|congenital megacolon|Hirschsprung's disease|Hirschsprung disease susceptibility|HSCR OMIM:600155|SCTID:204739008|OMIM:600156|NCIT:C34700|UMLS:C3661523|Orphanet:388|OMIMPS:142623|UMLS:C0019569|OMIM:142623|OMIM:606875|OMIM:606874|MESH:D006627|ICD10:Q43.1|MedDRA:10010539|OMIM:608462|OMIM:611644|DOID:10487|GARD:0006660|OMIM:613712|OMIM:613711 owl:Class MONDO:0018127 biolink:NamedThing 16q24.1 microdeletion syndrome 16q24.1 microdeletion syndrome is a partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects). tmpaxzxjjyw_mondo_relaxed.owl monosomy 16q24.1|Del(16)(q24.1) ICD10:Q93.5|UMLS:CN204505|Orphanet:352629 owl:Class MONDO:0005087 biolink:NamedThing respiratory system disorder A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma. tmpaxzxjjyw_mondo_relaxed.owl respiratory disorder|respiratory system disease or disorder|respiratory system disease|disorder of respiratory system|respiratory disease|disease or disorder of respiratory system|respiratory system disorder|disease of respiratory system ICD9:517|ICD9:460-519.99|ICD9:519.9|ICD9:519|SCTID:50043002|ICD9:516|ICD9:508.9|ICD9:519.3|DOID:1579|ICD9:519.8|MESH:D012140|ICD9:519.1|NCIT:C26871|ICD9:508|ICD9:500-508.99|ICD9:516.8|ICD10:J98|ICD9:508.1|ICD9:508.8|ICD9:516.9|ICD9:V12.60|ICD9:510-519.99|ICD9:503|ICD10:J96-J99|ICD9:V47.2|ICD9:517.8|EFO:0000684 owl:Class MONDO:0021250 biolink:NamedThing tonsil neoplasm A neoplasm (disease) that involves the tonsil. tmpaxzxjjyw_mondo_relaxed.owl tonsillar neoplasm|tonsil tumor|neoplasm of tonsil|tumor of tonsil|tonsillar neoplasms|tonsil neoplasm (disease)|tumor of the tonsil|tonsillar tumor|neoplasm of the tonsil SCTID:127227003|NCIT:C3417 owl:Class MONDO:0015508 biolink:NamedThing genetic parenchymatous liver disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199641|Orphanet:156604 owl:Class MONDO:0005154 biolink:NamedThing liver disorder A disease involving the liver. tmpaxzxjjyw_mondo_relaxed.owl hepatic disease|liver and intrahepatic bile duct disorder|disorder of liver|disease of liver|hepatic disorder|disease or disorder of liver|liver disease|liver disease or disorder|liver disorder SCTID:235856003|ICD10:K70-K77|EFO:0001421|UMLS:C0023895|NCIT:C3196|NCIT:C50634|ICD9:573.8|MESH:D008107|ICD10:K76.9|ICD9:573.9|DOID:409 owl:Class MONDO:0008438 biolink:NamedThing hereditary spastic paraplegia 4 Autosomal dominant spastic paraplegia type 4 (SPG4) is a form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset. tmpaxzxjjyw_mondo_relaxed.owl SPAST hereditary spastic paraplegia|autosomal dominant spastic paraplegia type 4|hereditary spastic paraplegia caused by mutation in SPAST|hereditary spastic paraplegia 4|familial spastic paraplegia autosomal dominant 2|FSP2|SPG4|spastic paraplegia 4, autosomal dominant|spastic paraplegia 4|autosomal dominant spastic paraplegia 4|hereditary spastic paraplegia type 4|familial spastic paraplegia, autosomal dominant, 2 UMLS:C4510079|Orphanet:100985|MESH:C536865|DOID:0110792|OMIM:182601|ICD10:G11.4|UMLS:C1866855|SCTID:723820001|NCIT:C129981|GARD:0004925 owl:Class MONDO:0017914 biolink:NamedThing pure or complex autosomal dominant spastic paraplegia tmpaxzxjjyw_mondo_relaxed.owl Pure or complicated autosomal dominant spastic paraplegia Orphanet:320342|ICD10:G11.4 owl:Class NCIT:C12664 biolink:NamedThing Abdomen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003695 biolink:NamedThing ovarian clear cell adenofibroma An uncommon benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma. tmpaxzxjjyw_mondo_relaxed.owl clear cell adenofibroma of ovary|ovarian clear cell adenofibroma|ovary clear cell adenofibroma DOID:5897|NCIT:C40085|UMLS:C1518694 owl:Class MONDO:0003460 biolink:NamedThing clear cell adenofibroma A benign neoplasm characterized by the presence of glandular structures which contain clear cells and a fibrotic stroma. tmpaxzxjjyw_mondo_relaxed.owl clear cell adenofibroma|clear cell adenofibroma (morphologic abnormality) DOID:5477|MESH:D062625|NCIT:C8987|ICDO:8313/0|NCIT:C8985 owl:Class MONDO:0010790 biolink:NamedThing MERRF syndrome A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy. tmpaxzxjjyw_mondo_relaxed.owl myoclonic epilepsy - ragged red fibers|myoencephalopathy ragged-red fiber disease|MERRF syndrome|myoclonic epilepsy associated with ragged red fibers|Fukuhara syndrome|myoclonus epilepsy associated with ragged-red fibres|myoclonic epilepsy with ragged red fibers|myoclonus with epilepsy and with ragged Red fibers|myoclonic epilepsy associated with ragged-RED fibers|myoclonus with epilepsy and with ragged Red fibers (MERRF syndrome)|myoclonus epilepsy and ragged red fibers|MERRF Orphanet:551|NCIT:C84889|ICD10:E88.42|ICD10:G71.3|UMLS:C0162672|MESH:D017243|MedDRA:10069825|OMIM:545000|GARD:0007144|DOID:310|SCTID:68448003|ICD9:277.87 owl:Class MONDO:0019815 biolink:NamedThing accessory tricuspid valve tissue Accessory tricuspid valve tissue is a rare, congenital, atrioventricular valve malformation characterized by fixed or mobile accessory tissue on the tricuspid valve, usually associated with other complex congenital heart anomalies (atrial septal defect, ventricular septal defect, transposition of great arteries, tetralogy Fallot). It may present clinically with systolic murmur, dyspnea, cyanosis, depending also on accompanying congenital heart anomaly. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:95462|ICD10:Q22.8 owl:Class ECTO:0000657 biolink:NamedThing exposure to disinfectant An exposure to disinfectant. tmpaxzxjjyw_mondo_relaxed.owl exposure to disinfectant owl:Class MONDO:0016150 biolink:NamedThing qualitative or quantitative defects of integrin alpha-7 tmpaxzxjjyw_mondo_relaxed.owl Integrinopathy Orphanet:207098 owl:Class MONDO:0016139 biolink:NamedThing qualitative or quantitative protein defects in neuromuscular diseases tmpaxzxjjyw_mondo_relaxed.owl Orphanet:207049|UMLS:CN200901 owl:Class CL:0000025 biolink:NamedThing egg cell A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization. tmpaxzxjjyw_mondo_relaxed.owl ovum|mature oocyte FBbt:00057012|CALOHA:TS-2191|FMA:67343|BTO:0003801|MA:0000388|BTO:0000369 cell owl:Class CL:0000675 biolink:NamedThing female gamete A mature sexual reproductive cell of the female germline. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class HP:0003581 biolink:NamedThing Adult onset Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. tmpaxzxjjyw_mondo_relaxed.owl Symptoms begin in adulthood|Onset in adulthood|Onset in early adulthood UMLS:C1853562 HP:0003627|HP:0003669|HP:0003662|HP:0003598|HP:0003585 human_phenotype owl:Class HP:0003674 biolink:NamedThing Onset The age group in which disease manifestations appear. tmpaxzxjjyw_mondo_relaxed.owl Age symptoms begin|Age of onset UMLS:C0206132|MSH:D017668 Adolescent is defined by WHO as a person between 10-19 years of age. HP:0003597|HP:0003664|HP:0003630|HP:0003588|HP:0003626|HP:0011007|HP:0003590|HP:0003618|HP:0003663|HP:0003628|HP:0003602|HP:0003668|HP:0003603 human_phenotype owl:Class MONDO:0025713 biolink:NamedThing angioedema, hereditary, 7 tmpaxzxjjyw_mondo_relaxed.owl HAE7 OMIM:619366 owl:Class MONDO:0019623 biolink:NamedThing hereditary angioedema Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. tmpaxzxjjyw_mondo_relaxed.owl hereditary bradykinine-induced angioedema|hereditary angioedema|HAE|familial angioneurotic edema|hereditary angioneurotic edema|hereditary non histamine-induced angioedema|HANE|angioedema, hereditary|deficiency of C1 esterase inhibitor ICD10:D84.1|NCIT:C84758|OMIM:610618|DOID:14735|OMIMPS:106100|UMLS:C0019243|Orphanet:91378|MESH:D054179|SCTID:82966003|GARD:0005979|UMLS:CN239191|OMIM:106100|MedDRA:10019860 owl:Class MONDO:0006610 biolink:NamedThing skin atrophy The degeneration and thinning of the epidermis and dermis. It is usually a manifestation of aging. tmpaxzxjjyw_mondo_relaxed.owl atrophy of skin|atrophic skin|atrophy - skin|atrophoderma|atrophic condition of skin EFO:1000766|NCIT:C35163|ICD9:701.8|ICD10:L90.9|SCTID:400190005|ICD10:L90|Wikipedia:Steroid_atrophy|DOID:2733|UMLS:C0151514 owl:Class MONDO:0011885 biolink:NamedThing tubulointerstitial nephritis and uveitis syndrome An autoimmune disorder comprising tubulointerstitial nephritis and uveitis. tmpaxzxjjyw_mondo_relaxed.owl Tubulointerstitial nephritis and uveitis|TUBULOINTERSTITIAL nephritis with uveitis|Dobrin syndrome|TINU syndrome|TINU|acute tubulointerstitial nephritis and uveitis syndrome|acute Tubulointerstitial nephritis ICD10:N10|NCIT:C123021|OMIM:607665|Orphanet:91500|MedDRA:10069034|MedDRA:10069039|UMLS:C1843273|GARD:0009252 owl:Class MONDO:0010996 biolink:NamedThing hereditary hemorrhagic telangiectasia type 3 tmpaxzxjjyw_mondo_relaxed.owl telangiectasia, hereditary hemorrhagic, type 3|HHT3|ORW3|Osler Weber Rendu syndrome type 3|telangiectasia hereditary hemorrhagic type 3 Orphanet:774|OMIM:601101|MESH:C537140|GARD:0009902 https://rarediseases.info.nih.gov/diseases/9902/hereditary-hemorrhagic-telangiectasia-type-3 owl:Class MONDO:0019180 biolink:NamedThing hereditary hemorrhagic telangiectasia Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting. tmpaxzxjjyw_mondo_relaxed.owl Rendu-Osler disease|HHT|Rendu-Osler-Weber disease|Osler hemorrhagic telangiectasia syndrome|telangiectasia, hereditary Hemorrahagic, of Rendu, Osler|telangiectasia, hereditary hemorrhagic|Osler-Weber-Rendu disease|hereditary hemorrhagic telangiectasia OMIM:187300|GARD:0006626|ICD9:448.0|OMIM:601101|OMIMPS:187300|MedDRA:10019883|NCIT:C35064|Orphanet:774|SCTID:21877004|OMIM:610655|MESH:D013683|DOID:1270|UMLS:C0039445|OMIM:615506|OMIM:600376|ICD10:I78.0 owl:Class MONDO:0008226 biolink:NamedThing periodontitis, aggressive 1 A localized aggressive periodontitis, formerly called localized juvenile periodontitis. It is a destructive form of periodontitis characterized by ALVEOLAR BONE LOSS of the MOLARS and INCISORS. Inflammation and loss of PERIODONTIUM that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as DENTAL PLAQUE and DENTAL CALCULUS. This highly destructive form of periodontitis often occurs in young people and was called early-onset periodontitis, but this disease also appears in old people. tmpaxzxjjyw_mondo_relaxed.owl periodontitis, juvenile|periodontitis, prepubertal|periodontitis, aggressive, 1|juvenile periodontitis|periodontitis, aggressive, type 1 OMIM:170650|ICD9:523.5|EFO:0006342|UMLS:C0031106|ICD10:K05.2|OMIM:608526|MESH:D010520|DOID:1474 owl:Class MONDO:0005593 biolink:NamedThing chronic periodontitis A chronic inflammatory process that affects the tissues that surround and support the teeth. tmpaxzxjjyw_mondo_relaxed.owl periodontitis, chronic ICD10:K05.3|ICD9:523.40|EFO:0006343|MESH:D055113|NCIT:C35326|ICD9:523.4|SCTID:5689008|OMIM:170650|OMIM:260950|UMLS:C0266929 owl:Class MONDO:0017416 biolink:NamedThing postpoliomyelitis syndrome Postpoliomyelitis syndrome (PPS) is a neurologic disorder characterized by the development of new neuromuscular symptoms such as progressive muscular weakness or abnormal muscle fatigability occurring in survivors of the acute paralytic form of poliomyelitis, 15-40 years after recovery from the disease, and that is unexplained by other medical causes. Other manifestations that can occur gradually include generalized fatigue, muscle atrophy, muscle and joint pain, intolerance to cold, and difficulties sleeping, swallowing or breathing. tmpaxzxjjyw_mondo_relaxed.owl polio late effects|post-polio muscular atrophy|postpoliomyelitis sequelae|postpoliomyelitic syndrome|post-polio sequelae|postpoliomyelitis syndrome|post-poliomyelitic syndrome|postpolio syndrome|postpolio sequelae|post polio syndrome UMLS:C0080040|Orphanet:2942|SCTID:31097004|GARD:0004454|ICD10:G14|DOID:4952|EFO:0007454|MESH:D016262 owl:Class MONDO:0017373 biolink:NamedThing poliomyelitis An acute infectious disorder that affects the nervous system. It is caused by the poliovirus. The virus spreads by direct contact, and can be prevented by prophylaxis with the polio vaccine. tmpaxzxjjyw_mondo_relaxed.owl poliomyelitis|polio|infantile paralysis|acute poliomyelitis|Polia Orphanet:2912|ICD10:A80.9|MedDRA:10036012|SCTID:398102009|ICD9:045|ICD10:A80.1|ICD10:A80|EFO:0007450|ICD10:A80.0|ICD10:A80.3|ICD9:045.92|NCIT:C35550|GARD:0007413|ICD10:A80.2|ICD9:045.90|ICD9:045.9|ICD10:A80.4|UMLS:C0032371|MESH:D011051|DOID:4953 owl:Class GO:0006110 biolink:NamedThing regulation of glycolytic process Any process that modulates the frequency, rate or extent of glycolysis. tmpaxzxjjyw_mondo_relaxed.owl regulation of glycolysis involved in cellular glucose homeostasis owl:Class MONDO:0000530 biolink:NamedThing rectum adenoma An adenoma that arises from the rectum. The group of rectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. tmpaxzxjjyw_mondo_relaxed.owl rectum adenoma|rectal adenoma|adenoma of the rectum|adenoma of rectum DOID:0050915|SCTID:399730005|UMLS:C1302652|NCIT:C5546 owl:Class MONDO:0000739 biolink:NamedThing uvulitis Inflammation of the uvula. tmpaxzxjjyw_mondo_relaxed.owl palatine uvula inflammation|inflammation of palatine uvula|acute uvulitis NCIT:C128385|ICD10:K12.2|SCTID:300932000|UMLS:C0042174|MedDRA:10051962|DOID:0060310|ICD9:528.3 owl:Class MONDO:0004867 biolink:NamedThing upper respiratory tract disorder A disease involving the upper respiratory tract. tmpaxzxjjyw_mondo_relaxed.owl upper respiratory tract disease|disease or disorder of upper respiratory tract|disease of upper respiratory tract|disorder of upper respiratory tract|upper respiratory tract disease or disorder DOID:974|ICD9:478.19|SCTID:201060008|ICD9:478.1|ICD9:478.9 owl:Class MONDO:0023000 biolink:NamedThing dobrow syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001895 https://rarediseases.info.nih.gov/diseases/1895/dobrow-syndrome owl:Class MONDO:0009152 biolink:NamedThing ectopia lentis 2, isolated, autosomal recessive An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. tmpaxzxjjyw_mondo_relaxed.owl ectopia lentis 2, isolated, autosomal recessive|autosomal recessive isolated ectopia lentis 2|ECTOL2|ectopia lentis, isolated autosomal recessive|autosomal recessive isolated ectopia lentis UMLS:C3541474|OMIM:225100|Orphanet:1885|DOID:0111149|GARD:0002060 owl:Class MONDO:0015998 biolink:NamedThing isolated ectopia lentis Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. tmpaxzxjjyw_mondo_relaxed.owl IEL|ectopia lentis syndrome|isolated lens position anomaly|familial ectopia lentis|nonsyndromic lens position anomaly|congenital ectopic lens PMID:20141359|MESH:C536184|MedDRA:10014145|OMIM:225200|SCTID:74969002|ICD10:Q12.1|OMIM:129600|NCIT:C34566|DOID:0111148|OMIM:225100|GARD:0012251|Orphanet:1885 https://rarediseases.info.nih.gov/diseases/12251/isolated-ectopia-lentis owl:Class ECTO:0001659 biolink:NamedThing exposure to chloroacetic acid An exposure to chloroacetic acid. tmpaxzxjjyw_mondo_relaxed.owl exposure to chloroacetic acid owl:Class ECTO:0001152 biolink:NamedThing exposure to organochlorine compound An exposure to organochlorine compound. tmpaxzxjjyw_mondo_relaxed.owl exposure to organochlorine compound owl:Class MONDO:0003000 biolink:NamedThing central nervous system germ cell tumor A unique group of rare tumors of the central nervous system that affect mainly children and adolescents. Their morphologic and biologic profile corresponds to that of homologous germ cell tumors that arise in the gonads and in other extragonadal sites. Representative examples include: germinoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. tmpaxzxjjyw_mondo_relaxed.owl germ cell neoplasm of CNS|central nervous system germ cell neoplasm|germ cell tumor of the CNS|germ cell neoplasm of central nervous system|germ cell neoplasm of the CNS|CNS germ cell neoplasm|germ cell neoplasm of the central nervous system|central nervous system rare germ cell tumor|central nervous system germ cell tumor|germ cell tumor of CNS|germ cell tumor of central nervous system|CNS germ cell tumor|germ cell tumor of the central nervous system NCIT:C5461|DOID:4439|UMLS:C1332880 owl:Class MONDO:0005040 biolink:NamedThing germ cell tumor A benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the germ cell|tumor of the germ cell|tumor of germ cell|germ cell tumour|germ cell neoplasm|neoplasm of germ cell|germ cells tumors|germ cell cancer|germ cell tumor NCIT:C3708|DOID:688|DOID:2994|MESH:D018237|MESH:D009373|UMLS:C0205851|GARD:0013022|SCTID:402878003|DOID:3304|EFO:0000514 owl:Class MONDO:0011247 biolink:NamedThing jejunal atresia with renal adysplasia tmpaxzxjjyw_mondo_relaxed.owl jejunal atresia with renal adysplasia MESH:C537567|GARD:0009985|UMLS:C1865209|OMIM:602551 https://rarediseases.info.nih.gov/diseases/9985/jejunal-atresia-with-renal-adysplasia owl:Class MONDO:0024229 biolink:NamedThing miliaria crystallina A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located in the stratum corneum. tmpaxzxjjyw_mondo_relaxed.owl DOID:0070321|ICD10CM:L74.1 owl:Class MONDO:0006580 biolink:NamedThing miliaria A small (one mm or less) vesicular, papular or pustular monomorphous rash, which is associated with heat, fever or occlusion of sweat glands. tmpaxzxjjyw_mondo_relaxed.owl heat rash|prickly heat DOID:1382|Wikipedia:Miliaria|MESH:D008883|ICD10:L74.3|EFO:1000734|NCIT:C34820|SCTID:63951004|UMLS:C0026113 owl:Class HGNC:5004 biolink:NamedThing HMGB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17020 biolink:NamedThing IRAK3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004474 biolink:NamedThing gallbladder lymphoma A lymphoma that arises from the gallbladder, with the bulk of the tumor located at this site. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of gallbladder|lymphoma of the gallbladder|lymphoma of gall bladder|gallbladder lymphoma|gall bladder lymphoma|primary gallbladder lymphoma NCIT:C5734|UMLS:C1333748|DOID:8135 owl:Class MONDO:0005062 biolink:NamedThing lymphoma A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. tmpaxzxjjyw_mondo_relaxed.owl lymphomatous|lymphoma, malignant|lymphoma|lymphoid cancer|malignant lymphoma|MLYM|lymphoma (Hodgkin and non-Hodgkin)|lymphoma (Hodgkin's and non-Hodgkin's) ICD9:202.80|ONCOTREE:MLYM|NCIT:C3208|ICD10:C85.9|MESH:D008223|EFO:0000574|Orphanet:223735|OMIM:605027|ICD9:200.0|ICDO:9590/3|UMLS:C0598798|ICD9:200.1|NCIT:C7065|UMLS:C0024299|DOID:0060058|GARD:0011955|SCTID:188498009|SCTID:118600007|MedDRA:10025310 This is potentially too broad as well as overlaps with leukemia and should be obsoleted. owl:Class MONDO:0018130 biolink:NamedThing brain dopamine-serotonin vesicular transport disease Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G25.8|UMLS:CN204508|Orphanet:352649|UMLS:C4303546|SCTID:717942003 owl:Class MONDO:0019219 biolink:NamedThing inborn disorder of neurotransmitter metabolism and transport tmpaxzxjjyw_mondo_relaxed.owl disorder of neurotransmitter metabolism and transport Orphanet:79169|UMLS:CN227586 owl:Class MONDO:0023561 biolink:NamedThing Koone-Rizzo-Elias syndrome tmpaxzxjjyw_mondo_relaxed.owl ichthyosis, intellectual disability and asymptomatic spasticity|Koone Rizzo Elias syndrome|ichthyosis, mental retardation and asymptomatic spasticity UMLS:C2931397|GARD:0003131|MESH:C537023 https://rarediseases.info.nih.gov/diseases/3131/koone-rizzo-elias-syndrome owl:Class MONDO:0000918 biolink:NamedThing endometritis An acute or chronic, usually bacterial infectious process affecting the endometrium. It may extend to the myometrium and parametrial tissues. Symptoms include lower abdominal pain, vaginal discharge, and vaginal bleeding. tmpaxzxjjyw_mondo_relaxed.owl inflammation of endometrium|endometrium inflammation|uterine infection SCTID:78623009|EFO:1001312|NCIT:C26764|MESH:D004716|UMLS:C0014179|DOID:1002 owl:Class GO:1905821 biolink:NamedThing positive regulation of chromosome condensation Any process that activates or increases the frequency, rate or extent of chromosome condensation. tmpaxzxjjyw_mondo_relaxed.owl upregulation of eukaryotic chromosome condensation|positive regulation of nuclear chromosome condensation|up regulation of eukaryotic chromosome condensation|activation of nuclear chromosome condensation|up-regulation of chromosome condensation|upregulation of chromosome condensation|up regulation of chromosome condensation|activation of eukaryotic chromosome condensation|up-regulation of eukaryotic chromosome condensation|up-regulation of nuclear chromosome condensation|positive regulation of eukaryotic chromosome condensation|activation of chromosome condensation|up regulation of nuclear chromosome condensation|upregulation of nuclear chromosome condensation owl:Class GO:0060623 biolink:NamedThing regulation of chromosome condensation Any process that modulates the rate, frequency, or extent of chromosome condensation, the progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008442 biolink:NamedThing spastic paraplegia-neuropathy-poikiloderma syndrome Spastic paraplegia-neuropathy-poikiloderma syndrome is a complex form of hereditary spastic paraplegia characterized by spastic paraplegia, demyelinating peripheral sensorimotor neuropathy, poikiloderma (manifesting with loss of eyebrows and eyelashes in childhood in addition to delicate, smooth, and wasted skin) and distal amyotrophy (presenting after puberty). There have been no further descriptions in the literature since 1992. tmpaxzxjjyw_mondo_relaxed.owl Antinolo-Nieto-Borrego syndrome|familial spastic paraplegia with neuropathy and poikiloderma|spastic paraplegia neuropathy poikiloderma|spastic paraplegia with neuropathy and poikiloderma OMIM:182815|GARD:0004921|MESH:C536870|Orphanet:2821|UMLS:C1866851 owl:Class MONDO:0015087 biolink:NamedThing autosomal dominant complex spastic paraplegia Autosomal dominant form of complex hereditary spastic paraplegia. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant complicated spastic paraplegia|autosomal dominant complex SPG|autosomal dominant complex HSP|autosomal dominant complex hereditary spastic paraplegia|autosomal dominant complicated HSP|autosomal dominant complicated SPG|complex hereditary spastic paraplegia, autosomal dominant Orphanet:100979|ICD10:G11.4|UMLS:CN226593 owl:Class MONDO:0006161 biolink:NamedThing colorectal juvenile polyp A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. tmpaxzxjjyw_mondo_relaxed.owl large bowel juvenile polyp|juvenile polyp of large bowel|colorectal retention polyp|large intestinal juvenile polyp|juvenile polyp of the large bowel NCIT:C5681|EFO:1000194 owl:Class MONDO:0006160 biolink:NamedThing colorectal hamartoma A non-neoplastic, hamartomatous polyp that arises from the colon and rectum. This group includes the juvenile polyp, Peutz-Jeghers polyp, and Cowden-associated polyp. tmpaxzxjjyw_mondo_relaxed.owl colorectum hamartoma (disease)|colorectal hamartoma|large intestinal hamartoma EFO:1000193|NCIT:C96474|UMLS:C3272801 owl:Class HGNC:3178 biolink:NamedThing EDN3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006714 biolink:NamedThing coronary aneurysm Abnormal balloon- or sac-like dilatation in the wall of coronary vessels. Most coronary aneurysms are due to coronary atherosclerosis, and the rest are due to inflammatory diseases, such as kawasaki disease. tmpaxzxjjyw_mondo_relaxed.owl aneurysm of coronary vessels|coronary artery aneurysm|aneurysmal lesion of coronary artery|arteriovenous aneurysm of coronary vessels DOID:3362|GARD:0006200|SCTID:50570003|MESH:D003323|ICD10:I25.4|MedDRA:10002348|HP:0030882|EFO:1000881|UMLS:C0010051|ICD10:I25.41|ICD9:414.11 owl:Class MONDO:0005010 biolink:NamedThing coronary artery disorder Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC) tmpaxzxjjyw_mondo_relaxed.owl coronary heart disease|CAD|disease of coronary artery|coronary arteriosclerosis|disease or disorder of coronary artery|CHD|CHD (coronary heart disease)|coronary artery disease or disorder|disorder of coronary artery|coronary disease|coronary artery disease MESH:D003324|ICD9:414.0|DOID:3393|NCIT:C35505|UMLS:C1956346|SCTID:414545008|OMIM:612030|OMIM:608318|ICD9:410-414.99|OMIM:614293|MESH:D017202|OMIM:608901|OMIM:608320|OMIM:614466|ICD10:I25.1|ICD10:I20-I25|EFO:0001645|NCIT:C26732|ICD10:I25|OMIM:610947|ICD10:K76.1|ICD9:414.9|SCTID:414024009|SCTID:443502000|UMLS:C0151744|OMIM:300464|OMIM:610938|OMIM:611139|GARD:0011944|OMIM:607339|ICD10:I25.9|ICD10:I25.10|OMIM:608316 owl:Class ECTO:9001975 biolink:NamedThing exposure to antimicrobial food preservative An exposure to antimicrobial food preservative. tmpaxzxjjyw_mondo_relaxed.owl exposure to antimicrobial food preservative owl:Class ECTO:0000544 biolink:NamedThing exposure to antimicrobial agent An exposure to antimicrobial agent. tmpaxzxjjyw_mondo_relaxed.owl exposure to antimicrobial agent owl:Class MONDO:0008941 biolink:NamedThing hepatic fibrosis-renal cysts-intellectual disability syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. tmpaxzxjjyw_mondo_relaxed.owl Thompson Baraitser syndrome|cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome|Thompson-Baraitser syndrome MESH:C565867|OMIM:213010|Orphanet:2031|GARD:0005177 owl:Class UBERON:0004265 biolink:NamedThing outflow tract myocardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002349 biolink:NamedThing myocardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010004 biolink:NamedThing EEC syndrome EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate). tmpaxzxjjyw_mondo_relaxed.owl Rudiger syndrome 1|ectrodactyly-ectodermal dysplasia-cleft syndrome|ectrodactyly-cleft lip/palate syndrome|ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome|Walker-Clodius syndrome|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome|RUDIGER syndrome|ectrodactyly-ectodermal dysplasia-clefting syndrome|ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome DOID:0060782|Orphanet:1896|OMIM:604292|NCIT:C148261|MESH:C536189|SCTID:39788007|ICD10:Q82.4|OMIM:129900|OMIM:268650|GARD:0002076|UMLS:CN776907|UMLS:C0406704 https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome owl:Class MONDO:0020160 biolink:NamedThing secondary entropion tmpaxzxjjyw_mondo_relaxed.owl ICD10:H02.0|Orphanet:98569 owl:Class MONDO:0019475 biolink:NamedThing subcutaneous panniculitis-like T-cell lymphoma Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue. tmpaxzxjjyw_mondo_relaxed.owl subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type|T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE|subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)|subcutaneous panniculitis-like T-cell lymphoma|SPTCL|subcutaneous panniculitic T-cell lymphoma ICD9:202.70|ICDO:9708/3|EFO:1000552|SCTID:404133000|UMLS:C0522624|ICD10:C83.6|NCIT:C6918|MESH:C537503|GARD:0010193|Orphanet:86884|OMIM:618398|ICD10:C86.3|ONCOTREE:SPTCL owl:Class MONDO:0000621 biolink:NamedThing immune system cancer A malignant neoplasm involving the immune system tmpaxzxjjyw_mondo_relaxed.owl cancer of immune system|malignant neoplasm of immune system|immune system cancer|malignant immune system neoplasm DOID:0060083 owl:Class MONDO:0017579 biolink:NamedThing Baraitser-Winter cerebrofrontofacial syndrome Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients. tmpaxzxjjyw_mondo_relaxed.owl iris coloboma with ptosis hypertelorism and intellectual disability|BRWS|Baraitser-winter syndrome|Fryns-Aftimos syndrome|trigonocephaly ptosis mental retardation|trigonocephaly ptosis coloboma|iris coloboma with ptosis hypertelorism and mental retardation|cerebro-frontofacial syndrome, type 3|trigonocephaly ptosis intellectual disability OMIMPS:243310|ICD10:Q87.0|DOID:0060229|SCTID:702410002|GARD:0005279|ICD9:759.89|Orphanet:2995|OMIM:614583|OMIM:243310 https://rarediseases.info.nih.gov/diseases/5279/baraitser-winter-syndrome owl:Class MONDO:0018838 biolink:NamedThing lissencephaly spectrum disorders The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. tmpaxzxjjyw_mondo_relaxed.owl lissencephaly spectrum disorders|pachygyria|macrogyria|Broad gyri of cerebrum|lissencephaly (disease)|lissencephaly|large gyri of cerebrum OMIMPS:607432|GARD:0007300|ICD10:Q04.8|SCTID:204036008|MESH:D054082|Orphanet:48471|OMIM:607432|OMIM:300215|HP:0001339|DOID:0050453|ICD10:Q04.3|MedDRA:10048911|OMIM:300067|UMLS:C0266463|OMIM:611603|NCIT:C103921|GARD:0012291|Orphanet:102009|OMIM:614019|OMIM:615191 Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. https://github.com/monarch-initiative/mondo/issues/1312 owl:Class GO:0048018 biolink:NamedThing receptor ligand activity The activity of a gene product that interacts with a receptor to effect a change in the activity of the receptor. Ligands may be produced by the same, or different, cell that expresses the receptor. Ligands may diffuse extracellularly from their point of origin to the receiving cell, or remain attached to an adjacent cell surface (e.g. Notch ligands). tmpaxzxjjyw_mondo_relaxed.owl receptor agonist activity|vitamin D receptor activator activity|signaling molecule|signaling receptor ligand activity owl:Class GO:0030546 biolink:NamedThing signaling receptor activator activity The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is increased. tmpaxzxjjyw_mondo_relaxed.owl signalling receptor activator activity|receptor activator activity owl:Class MONDO:0011452 biolink:NamedThing hypotrichosis 7 Any hypotrichosis in which the cause of the disease is a mutation in the LIPH gene. tmpaxzxjjyw_mondo_relaxed.owl Wh/Ht|LIPH hypotrichosis|hypotrichosis type 7|hypotrichosis, autosomal recessive|HYPT7|hypotrichosis, total, Mari type|total Mari type hypotrichosis,|Lah2|woolly hair, autosomal recessive 2, with or without hypotrichosis|hypotrichosis, localized, autosomal recessive 2|hypotrichosis 7|alopecia universalis congenita, Mari type|total hypotrichosis, Mari type|Mari type alopecia universalis congenita|hypotrichosis caused by mutation in LIPH EFO:0009163|DOID:0110704|OMIM:604379|Orphanet:55654|MESH:C536973|GARD:0008178|Orphanet:170 owl:Class MONDO:0018914 biolink:NamedThing hypotrichosis simplex Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. tmpaxzxjjyw_mondo_relaxed.owl hereditary hypotrichosis simplex SCTID:723362004|OMIM:607903|OMIM:614238|UMLS:C1854310|Orphanet:55654|OMIM:614237|OMIM:604379|OMIM:615885|OMIM:278150|OMIM:615059|ICD10:L65.8|OMIM:605389|GARD:0009170|MESH:C537160 owl:Class MONDO:0012267 biolink:NamedThing holoprosencephaly 8 A holoprosencephaly that has material basis in variation in the chromosome region 14q13. tmpaxzxjjyw_mondo_relaxed.owl HPE8|holoprosencephaly 8|holoprosencephaly type 8 Orphanet:2162|OMIM:609408|DOID:0110879|MESH:C563723|UMLS:C1836254 owl:Class MONDO:0016296 biolink:NamedThing holoprosencephaly Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity. tmpaxzxjjyw_mondo_relaxed.owl HPE|holoprosencephaly sequence OMIM:614226|OMIMPS:236100|GARD:0006665|OMIM:612530|OMIM:157170|OMIM:142946|SCTID:30915001|MedDRA:10056304|OMIM:605934|Orphanet:2162|OMIM:609408|OMIM:610828|OMIM:236100|OMIM:147250|OMIM:610829|NCIT:C74988|OMIM:609637|UMLS:C0079541|OMIM:142945|ICD10:Q04.2|MESH:D016142|DOID:4621 https://rarediseases.info.nih.gov/diseases/6665/holoprosencephaly owl:Class MONDO:0023062 biolink:NamedThing encephalocele anencephaly tmpaxzxjjyw_mondo_relaxed.owl GARD:0002109 https://rarediseases.info.nih.gov/diseases/2109/encephalocele-anencephaly owl:Class GO:0014046 biolink:NamedThing dopamine secretion The regulated release of dopamine by a cell. Dopamine is a catecholamine and a precursor of adrenaline and noradrenaline. It acts as a neurotransmitter in the central nervous system but it is also produced peripherally and acts as a hormone. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018369 biolink:NamedThing immature ovarian teratoma A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients. tmpaxzxjjyw_mondo_relaxed.owl ovarian germ cell immature teratoma|malignant germ cell teratoma of ovary|immature germ cell teratoma of the ovary|ovarian malignant teratoma|malignant teratoma of ovary|immature ovarian teratoma|immature teratoma of the ovary|malignant ovarian teratoma|malignant ovarian germ cell teratoma|ovarian immature germ cell teratoma|ovary malignant teratoma|ovarian immature teratoma|immature teratoma of ovary|malignant germ cell teratoma of the ovary|immature teratoma|immature germ cell teratoma of ovary|malignant teratoma of the ovary ICD10:C56|Orphanet:398987|SCTID:254871000|UMLS:C0346182|ONCOTREE:OIMT|NCIT:C8111|DOID:6331|UMLS:CN205036 owl:Class MONDO:0016096 biolink:NamedThing malignant non-dysgerminomatous germ cell tumor of ovary A malignant germ cell tumor other than dysgerminoma that arises from the ovary. tmpaxzxjjyw_mondo_relaxed.owl ovarian non-dysgerminomatous germ cell tumor|ovarian Nondysgerminomatous germ cell tumor|non-dysgerminomatous germ cell cancer of ovary UMLS:C3640983|NCIT:C102870|ICD10:C56|UMLS:CN200863|Orphanet:206538 owl:Class MONDO:0008388 biolink:NamedThing ringed hair disease Pili annulati is an isolated, benign hair shaft abnormality, usually presenting after the age of 2 and affecting the hair of the scalp or very rarely beard, axillary, or pubic hair, that is characterized by a banded or speckled appearance due to alternating light bands (corresponding to air-filled cavities within the cortex of the affected hair shafts) and dark bands. The bands have a lifelong duration, may only be detectable under light microscopy, are more apparent in fair-colored hair or with age-related graying, and have no effect on hair growth or fragility in the vast majority of cases. tmpaxzxjjyw_mondo_relaxed.owl pili annulati|ringed hair GARD:0004359|MESH:C537187|ICD10:Q84.1|UMLS:C0263489|Orphanet:169|SCTID:21926007|OMIM:180600 owl:Class MONDO:0014495 biolink:NamedThing retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl RDJCSS|retinal dystrophy, juvenile cataracts, and short stature syndrome|retinal dystrophy-juvenile cataract-short stature syndrome UMLS:C4015242|Orphanet:436245|OMIM:616108|ICD10:Q87.8 owl:Class MONDO:0041167 biolink:NamedThing carcinoid crisis A life-threatening complication of carcinoid syndrome, and is generally found in people who already have carcinoid syndrome. The crisis may occur suddenly, or it can be associated with stress, chemotherapy, or anesthesia. tmpaxzxjjyw_mondo_relaxed.owl carcinoid crisis SCTID:237833006|UMLS:C0342569 Editor note: consider ceding to HPO owl:Class MONDO:0100347 biolink:NamedThing carcinoid syndrome tmpaxzxjjyw_mondo_relaxed.owl carcinoid tumors, intestinal|carcinoid tumor syndrome|malignant carcinoid syndrome|carcinoid syndrome NCIT:C3215|SCTID:35868009|ICD9:259.2|MedDRA:10007270|GARD:0005994|EFO:1000852|ICD10:E34.0|Orphanet:100093 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/5994/carcinoid-syndrome owl:Class CL:0000300 biolink:NamedThing gamete A mature sexual reproductive cell having a single set of unpaired chromosomes. tmpaxzxjjyw_mondo_relaxed.owl haploid nucleated cell|haploid germ cell FMA:18649|FBbt:00005412|CALOHA:TS-0395 cell owl:Class CL:0000586 biolink:NamedThing germ cell The reproductive cell in multicellular organisms. tmpaxzxjjyw_mondo_relaxed.owl WBbt:0006796|VHOG:0001534|BTO:0000535 cell owl:Class UBERON:0003512 biolink:NamedThing lung blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001708 biolink:NamedThing jaw skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CARO_0000003 biolink:NamedThing connected anatomical structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006254 biolink:NamedThing ischial cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015056 biolink:NamedThing ischial endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048667 biolink:NamedThing cell morphogenesis involved in neuron differentiation The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron. tmpaxzxjjyw_mondo_relaxed.owl neuron morphogenesis involved in differentiation owl:Class GO:0000904 biolink:NamedThing cell morphogenesis involved in differentiation The change in form (cell shape and size) that occurs when relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012010 biolink:NamedThing coronary heart disease, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl coronary heart disease, susceptibility to, type 4|Chds4|coronary heart disease, susceptibility to, 4 UMLS:C1842258|OMIM:608318 owl:Class MONDO:0021220 biolink:NamedThing eye neoplasm A neoplasm (disease) that involves the eye. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of eye|tumor of eyeball of camera-type eye|tumor of the eye|eyeball of camera-type eye tumor|eye tumor|neoplasm of the eye|ocular neoplasm|eye neoplasm (disease)|eyeball of camera-type eye neoplasm|ocular tumor|tumor of eye|neoplasm of eyeball of camera-type eye NCIT:C3030|ONCOTREE:EYE owl:Class MONDO:0012878 biolink:NamedThing Cowden syndrome 2 Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene. tmpaxzxjjyw_mondo_relaxed.owl Cowden disease caused by mutation in SDHB|Cowden syndrome 2|CWS2|Cowden syndrome type 2|SDHB Cowden disease MESH:C567337|OMIM:612359|UMLS:C3552552|Orphanet:201 owl:Class MONDO:0016063 biolink:NamedThing Cowden disease tmpaxzxjjyw_mondo_relaxed.owl MHAM|multiple hamartoma syndrome|Cowden disease|CD|Cowden syndrome|Cowden's disease|dysplastic gangliocytoma of cerebellum Orphanet:201|MESH:D006223|OMIM:615108|OMIM:615109|MedDRA:10051906|NCIT:C3076|ICD10:Q85.8|GARD:0006202|OMIM:158350|OMIMPS:158350|OMIM:615107|UMLS:C0018553|OMIM:616858|DOID:6457|OMIM:612359|SCTID:58037000|OMIM:615106 owl:Class MONDO:0007152 biolink:NamedThing arrhythmogenic right ventricular dysplasia 1 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene. tmpaxzxjjyw_mondo_relaxed.owl ARVC1|arrhythmogenic right ventricular dysplasia, familial, type 1|cardiomyopathy, right ventricular dilated|ARVD1|arrhythmogenic right ventricular cardiomyopathy 1|familial arrhythmogenic right ventricular dysplasia 1|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3|arrhythmogenic right ventricular dysplasia type 1|arrhythmogenic right ventricular dysplasia, familial, 1|TGFB3 arrhythmogenic right ventricular cardiomyopathy|Uhl anomaly UMLS:C1862511|ICD10:Q24.8|Orphanet:3403|OMIM:107970|ICD10:I42.8|DOID:0110070|Orphanet:217656 owl:Class MONDO:0016342 biolink:NamedThing familial isolated arrhythmogenic right ventricular dysplasia Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms. tmpaxzxjjyw_mondo_relaxed.owl familial isolated arrhythmogenic right ventricular cardiomyopathy|familial isolated ARVC|familial isolated ARVD|familial isolated arrhythmogenic ventricular cardiomyopathy|familial isolated arrhythmogenic ventricular dysplasia|familial isolated arrhythmogenic right ventricular dysplasia UMLS:C4274968|OMIM:611528|OMIM:609040|OMIM:604401|OMIM:602086|OMIM:600996|Orphanet:217656|OMIM:615616|UMLS:CN226907|OMIM:602087|OMIMPS:107970|OMIM:604400|OMIM:607450|OMIM:610476|SCTID:715865008|OMIM:610193|OMIM:107970|ICD10:I42.8 owl:Class MONDO:0009670 biolink:NamedThing lethal congenital contracture syndrome 1 Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies. tmpaxzxjjyw_mondo_relaxed.owl lethal congenital contracture syndrome caused by mutation in GLE1|multiple contracture syndrome, Finnish type|LCCS1|lethal congenital contracture syndrome type 1|lethal autosomal recessive syndrome of multiple congenital contractures|Herva disease|GLE1 lethal congenital contracture syndrome|Lccs|lethal congenital contracture syndrome 1 UMLS:C1854664|GARD:0003227|ICD10:Q68.8|Orphanet:1486|DOID:0060559|SCTID:715418007|MESH:C537194|OMIM:253310 owl:Class HP:0031691 biolink:NamedThing Severe viral infection An unusually severe viral infection. tmpaxzxjjyw_mondo_relaxed.owl 2017-12-17 22:28:59+00:00 The majority of viral infections acquired by nonimmunosuppressed individuals are asymptomatic or result in mild clinical manifestations. These individuals are able to mount effective immune responses that either clear the virus from the body or, for viruses that establish latency, maintain the virus in a dormant state. For individuals who are immunocompromised, because of a genetic immunodeficiency or immunosuppressive drug therapy, viral infections may result in life-threatening disease. Such patients present with infections that are severe, persistent, recurrent, or refractory to therapy and are usually caused by viruses of low virulence prevalent in the community. peter human_phenotype owl:Class HP:0032169 biolink:NamedThing Severe infection A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. tmpaxzxjjyw_mondo_relaxed.owl Unusual course of infection 2018-12-16 15:11:20+00:00 peter human_phenotype owl:Class GO:0031091 biolink:NamedThing platelet alpha granule A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). tmpaxzxjjyw_mondo_relaxed.owl platelet alpha-granule owl:Class GO:0030141 biolink:NamedThing secretory granule A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. tmpaxzxjjyw_mondo_relaxed.owl secretory vesicle owl:Class MONDO:0060729 biolink:NamedThing protoporphyria, erythropoietic, 2 tmpaxzxjjyw_mondo_relaxed.owl protoporphyria, erythropoietic, 2|EPP2 OMIM:618015|UMLS:CN248523 owl:Class MONDO:0019263 biolink:NamedThing autosomal erythropoietic protoporphyria Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. tmpaxzxjjyw_mondo_relaxed.owl EPP MESH:D046351|ICD10:E80.0|Orphanet:79278|OMIM:177000|MedDRA:10015289 owl:Class HGNC:1386 biolink:NamedThing CABP4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018918 biolink:NamedThing carcinoma of gallbladder and extrahepatic biliary tract Carcinoma of the gallbladder (GBC) is the most common and aggressive form of biliary tract cancer (BTC) usually arising in the fundus of the gallbladder, rapidly metastasizing to lymph nodes and distant sites. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of gallbladder and EBT UMLS:CN205299|Orphanet:56044|MedDRA:10007426 owl:Class MONDO:0021385 biolink:NamedThing extrahepatic bile duct neoplasm A benign or malignant neoplasm that affects the extrahepatic bile ducts. Representative examples include adenoma and adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl extrahepatic bile duct tumor|neoplasm of the extrahepatic bile duct|neoplasm of extrahepatic bile duct|extrahepatic bile duct neoplasm (disease)|tumor of the extrahepatic bile duct|extrahepatic bile duct neoplasm|tumor of extrahepatic bile duct SCTID:126855001|NCIT:C4441|UMLS:C0345913 https://github.com/monarch-initiative/mondo/issues/3673 owl:Class HP:0410008 biolink:NamedThing Abnormality of the peripheral nervous system Any abnormality of the part of the nervous system that consists of the nerves and ganglia outside of the brain and spinal cord. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the peripheral nervous system UMLS:C4073187 human_phenotype owl:Class HP:0000707 biolink:NamedThing Abnormality of the nervous system An abnormality of the nervous system. tmpaxzxjjyw_mondo_relaxed.owl Brain and/or spinal cord issue|Abnormality of the nervous system|Neurological abnormality|Neurologic abnormalities UMLS:C0497552|MSH:D009421|SNOMEDCT_US:88425004 The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system. HP:0001333|HP:0006987 human_phenotype owl:Class MONDO:0011464 biolink:NamedThing spinocerebellar ataxia type 11 Spinocerebellar ataxia type 11 (SCA11) is a subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs, eye movement abnormalities and pyramidal signs. tmpaxzxjjyw_mondo_relaxed.owl SCA11|spinocerebellar ataxia 11|spinocerebellar ataxia type 11 UMLS:C4304886|ICD10:G11.8|SCTID:719207000|OMIM:604432|DOID:0050961|Orphanet:98767|GARD:0010475|UMLS:C1858351|MESH:C565772 owl:Class UBERON:0001247 biolink:NamedThing falciform ligament tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013139 biolink:NamedThing ligament of liver tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005111 biolink:NamedThing metanephric pyramid tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004200 biolink:NamedThing kidney pyramid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004980 biolink:NamedThing atopic eczema A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. tmpaxzxjjyw_mondo_relaxed.owl allergic dermatitis|allergic|atopic eczema|Besnier's prurigo|eczema|Atopic dermatitis|allergic form of dermatitis|Atopic neurodermatitis|eczematous dermatitis OMIM:605803|OMIM:147050|ICD10:L20|NCIT:C3001|OMIMPS:603165|OMIM:603165|EFO:0000274|ICD9:691.8|ICD10:L20.81|ICD10:L20.9|DOID:3310|ICD9:691 owl:Class MONDO:0005271 biolink:NamedThing allergic disease An immune response that occurs following re-exposure to an innocuous antigen, and that requires the presence of existing antibodies against that antigen. This response involves the binding of IgE to mast cells, and may worsen with repeated exposures. tmpaxzxjjyw_mondo_relaxed.owl hypersensitivity|hypersensitivity reaction type I disease|allergic form of immune system disease|allergic disease or disorder|allergy|allergic response|allergic form of disease or disorder|disorder of type I hypersensitivity|allergic hypersensitivity disease|type I hypersensitivity disease|allergic reaction NCIT:C3114|EFO:0003785|MESH:D006967|ICD9:V15.09|NCIT:C114476|ICD10:T78.40|ICD9:995.3|DOID:1205|SCTID:609328004|UMLS:C1527304 owl:Class CHEBI:50817 biolink:NamedThing iron oxide mineral tmpaxzxjjyw_mondo_relaxed.owl iron oxide minerals owl:Class CHEBI:46725 biolink:NamedThing oxide mineral tmpaxzxjjyw_mondo_relaxed.owl oxide minerals owl:Class MONDO:0015386 biolink:NamedThing epignathus Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period. tmpaxzxjjyw_mondo_relaxed.owl oropharyngeal teratoma|epignathus (disease)|Epignathus epignathus (disease) ICD10:D37.0|Orphanet:141077|HP:0030767|UMLS:C0266725|SCTID:31248004 owl:Class MONDO:0005586 biolink:NamedThing head and neck neoplasm A benign or malignant neoplasm that affects the anatomic structures of the head and neck region. Representative examples of benign neoplasms include salivary gland pleomorphic adenoma and nasal cavity papilloma. Representative examples of malignant neoplasms include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. tmpaxzxjjyw_mondo_relaxed.owl head and neck neoplasm|head and neck neoplasm (excluding central nervous system)|neoplasm of head and neck|head and neck tumor|craniocervical region neoplasm (disease)|craniocervical region tumor|neoplasm of craniocervical region|craniocervical region neoplasm|tumor of head and neck|tumor of craniocervical region|neoplasm of the head and neck|tumor of the head and neck NCIT:C3077|SCTID:255055008|ONCOTREE:HEADNECK|UMLS:C0018671|EFO:0005950|ICD9:239.89 owl:Class MONDO:0016589 biolink:NamedThing progressive cerebello-cerebral atrophy tmpaxzxjjyw_mondo_relaxed.owl PCCA Orphanet:247198|OMIM:615851 owl:Class UBERON:0003295 biolink:NamedThing pharyngeal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002530 biolink:NamedThing gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000815 biolink:NamedThing Hypergonadotropic hypogonadism Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. tmpaxzxjjyw_mondo_relaxed.owl Hypergonadotrophic hypogonadism|Primary hypogonadism MSH:D007006|UMLS:C0948896|SNOMEDCT_US:370999003 HP:0008679 human_phenotype owl:Class HP:0000135 biolink:NamedThing Hypogonadism A decreased functionality of the gonad. tmpaxzxjjyw_mondo_relaxed.owl Decreased activity of gonads MSH:D007006|UMLS:C0020619|SNOMEDCT_US:48130008 Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. human_phenotype owl:Class MONDO:0003276 biolink:NamedThing middle ear disorder A disease involving the middle ear. tmpaxzxjjyw_mondo_relaxed.owl disorder of middle ear|middle ear disease or disorder|disease or disorder of middle ear|middle ear disease|middle Ear disorder|disease of middle ear UMLS:C0271428|NCIT:C27065|SCTID:68996008|DOID:5100 owl:Class MONDO:0021205 biolink:NamedThing disorder of ear A disease that involves the ear. tmpaxzxjjyw_mondo_relaxed.owl ear disease or disorder|disease of ear|Ear disease|disorder of ear|disease or disorder of ear|Ear disorder|ear disease ICD9:388.8|UMLS:C0013447|SCTID:25906001|NCIT:C26757|ICD9:388.9 owl:Class GO:0050954 biolink:NamedThing sensory perception of mechanical stimulus The series of events required for an organism to receive a sensory mechanical stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpaxzxjjyw_mondo_relaxed.owl perception of mechanical stimulus|chemi-mechanical coupling|mechanosensory perception owl:Class MONDO:0021529 biolink:NamedThing benign neoplasm of chest wall A benign neoplasm that involves the chest wall. tmpaxzxjjyw_mondo_relaxed.owl benign chest wall neoplasm|benign chest wall tumor|benign tumor of chest wall|chest wall benign neoplasm|benign tumor of the chest wall|benign neoplasm of the chest wall NCIT:C8529|UMLS:C0684831|ICD9:229.8|SCTID:92058007 owl:Class MONDO:0021388 biolink:NamedThing neoplasm of chest wall A neoplasm (disease) that involves the chest wall. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of chest wall|chest wall tumor|tumor of the chest wall|chest wall neoplasm (disease)|tumor of chest wall|neoplasm of the chest wall|chest wall neoplasm ICD9:239.89|NCIT:C4929|SCTID:126640008|UMLS:C1290309 owl:Class MONDO:0001179 biolink:NamedThing pinguecula A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus. tmpaxzxjjyw_mondo_relaxed.owl MESH:D059407|UMLS:C0152255|SCTID:87614000|DOID:11029|ICD10:H11.15|EFO:1001824|ICD9:372.51 owl:Class MONDO:0000949 biolink:NamedThing conjunctival degeneration tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155160|ICD10:H11.10|SCTID:40787005|DOID:10139|ICD9:372.50 owl:Class MONDO:0002311 biolink:NamedThing retinal vascular disorder Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage. tmpaxzxjjyw_mondo_relaxed.owl retinal vascular disorder|retina circulation disorder NCIT:C35170|SCTID:57534004|DOID:2462|ICD9:362.13|UMLS:C0154833 owl:Class MONDO:0020676 biolink:NamedThing disorder of central nervous system or retinal vasculature tmpaxzxjjyw_mondo_relaxed.owl retina/CNS vascular disease|central nervous system or retinal vascular disease Editor note: even though retinal diseases may be located outside the CNS, they are often indicators of CNS disease owl:Class UBERON:0001785 biolink:NamedThing cranial nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034713 biolink:NamedThing cranial neuron projection bundle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17272 biolink:NamedThing CENPJ tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001949 biolink:NamedThing gingival epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035037 biolink:NamedThing jaw epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021518 biolink:NamedThing benign neoplasm of hard palate A benign neoplasm that involves the hard palate. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of the hard palate|benign hard palate neoplasm|benign tumor of hard palate|benign hard palate tumor|benign neoplasm of the hard palate|hard palate benign neoplasm SCTID:92129006|NCIT:C4403|ICD9:210.4|UMLS:C0345552 owl:Class MONDO:0021279 biolink:NamedThing mucoepidermoid carcinoma of submandibular gland A mucoepidermoid carcinoma that involves the submandibular gland. tmpaxzxjjyw_mondo_relaxed.owl submandibular gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the submandibular gland SCTID:423424005|NCIT:C5939|UMLS:C1336524 owl:Class MONDO:0004724 biolink:NamedThing submandibular gland cancer A malignant neoplasm involving the submandibular gland. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of submandibular gland|malignant tumor of the submandibular gland|malignant submandibular gland neoplasm|malignant neoplasm of submaxillary gland|carcinoma of submandibular gland|cancer of submandibular gland|malignant neoplasm of submandibular gland|submandibular gland carcinoma|carcinoma of the submandibular gland|submandibular gland cancer DOID:9173|NCIT:C8396|SCTID:363380002|ICD9:142.1|ICD10:C08.0|UMLS:C0153360 owl:Class MONDO:0007211 biolink:NamedThing brachydactyly-arterial hypertension syndrome Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50. tmpaxzxjjyw_mondo_relaxed.owl Bilginturan syndrome|HTNB|hypertension and brachydactyly syndrome|brachydactyly with hypertension|Bilginturan brachydactyly|brachydactyly type E, with short stature and hypertension|brachydactyly type E with short stature and hypertension|brachydactyly, type E, with short stature and hypertension UMLS:C1862170|DOID:0111247|OMIM:112410|SCTID:720568003|MESH:C537095|Orphanet:1276|GARD:0000967|ICD10:Q73.8 owl:Class MONDO:0019066 biolink:NamedThing syndrome with brachydactyly Brachydactyly ('short digits') is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. tmpaxzxjjyw_mondo_relaxed.owl dysostosis with brachydactyly 2022-03-01 UMLS:CN205546|Orphanet:69028|ICD10:Q73.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0019698 biolink:NamedThing bent bone dysplasia tmpaxzxjjyw_mondo_relaxed.owl campomelic dysplasia and related disorders SCTID:254095002|Orphanet:93439|UMLS:C0432238|ICD9:756.59 owl:Class MONDO:0002380 biolink:NamedThing myoepithelial tumor A benign or malignant tumor characterized by the presence of cells that show myoepithelial differentiation. Based on its morphologic features, it is classified as benign or malignant. A representative example of benign myoepithelioma is benign salivary gland myoepithelioma. Representative examples of malignant myoepithelioma or myoepithelial carcinoma are malignant breast myoepithelioma and salivary gland myoepithelial carcinoma. tmpaxzxjjyw_mondo_relaxed.owl benign myoepithelioma|myoepithelial neoplasm|myoepithelioma|myoepithelial adenoma|myoepithelial tumor MESH:D009208|UMLS:C0027070|ICDO:8982/0|DOID:2661|UMLS:C1947949|NCIT:C40392|ICDO:8982/1 owl:Class MONDO:0005626 biolink:NamedThing epithelial neoplasm A benign or malignant neoplasm that arises from and is composed of epithelial cells. This category include adenomas, papillomas, and carcinomas. tmpaxzxjjyw_mondo_relaxed.owl epithelial neoplasm|epithelioma EFO:0006858|SCTID:118285006|MESH:D009375|NCIT:C3709 owl:Class MONDO:0001234 biolink:NamedThing adhesive otitis media An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. tmpaxzxjjyw_mondo_relaxed.owl fibrotic adhesive otitis media|adhesive otitis media|adhesive middle ear disease|chronic adhesive otitis media SCTID:7699004|ICD9:385.10|UMLS:C0155478|DOID:11235|ICD9:385.1|ICD10:H74.1 owl:Class MONDO:0002409 biolink:NamedThing auditory system disorder A disease involving the auditory system. tmpaxzxjjyw_mondo_relaxed.owl disorder of auditory system|ear and mastoid disease|disease or disorder of auditory system|disease of auditory system|auditory disease|auditory system disease or disorder|auditory system disease DOID:2742|EFO:1001455|ICD10:H93.9|ICD9:388.9|ICD10:H93.90|SCTID:362966006 owl:Class GO:0002281 biolink:NamedThing macrophage activation involved in immune response A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpaxzxjjyw_mondo_relaxed.owl macrophage activation during immune response|macrophage polarization involved in immune response owl:Class GO:0002275 biolink:NamedThing myeloid cell activation involved in immune response A change in the morphology or behavior of a myeloid cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. tmpaxzxjjyw_mondo_relaxed.owl myeloid cell activation during immune response owl:Class GO:0015721 biolink:NamedThing bile acid and bile salt transport The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl bile acid transport|bile salt transport owl:Class GO:0015718 biolink:NamedThing monocarboxylic acid transport The directed movement of monocarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019641 biolink:NamedThing pauci-immune glomerulonephritis Pauci-immune glomerulonephritis (GN) is one of the most frequent causes of rapidly progressive GN (RPGN). It is characterized clinically by renal manifestations of RPGN (hematuria, hypertension) leading to renal failure within days or weeks, and may be associated with manifestations of systemic vasculitis (arthralgia, fever, seizures, mono neuritis and lung involvement). Pauci-immune GN is histologically characterized by focal necrotizing and crescentic GN, with mild or absent glomerular staining for immunoglobulin and complement by fluorescence microscopy, which may manifest either as part of a systemic small vessel vasculitis (including microscopic polyangiitis, granulomatosis with polyangiitis and eosinophilic granulomatosis with polyangiitis), or rarely as part of renal-limited vasculitis (RLV, idiopathic crescentic GN). Immunologic classification is based on the presence or absence of circulating anti-neutrophil cytoplasmic antibodies (ANCAs), namely pauci-immune-GN with ANCA and pauci-immune GN without ANCA. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93126|ICD10:N05.7 owl:Class MONDO:0002462 biolink:NamedThing glomerulonephritis A renal disorder characterized by damage in the glomeruli. It may be acute or chronic, focal or diffuse, and it may lead to renal failure. Causes include autoimmune disorders, infections, diabetes, and malignancies. tmpaxzxjjyw_mondo_relaxed.owl nephritis of renal glomerulus|renal glomerulus nephritis|glomerulonephritis (disease)|glomerulonephritis|glomerular nephritis|bright's disease glomerulonephritis (disease) GARD:0006516|ICD10:N05|DOID:2921|HP:0000099|NCIT:C26784|ICD10:N08|SCTID:36171008|UMLS:C0017658|MESH:D005921|ICD9:583.9 owl:Class MONDO:0010015 biolink:NamedThing anterior segment dysgenesis 7 Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene. tmpaxzxjjyw_mondo_relaxed.owl anterior segment dysgenesis 7|sclerocornea with other ocular anomalies|sclerocornea with Other ocular anomalies|COPOA|corneal opacification with Other ocular anomalies|congenital cataract microcornea with corneal opacity|ASGD7|PXDN anterior segment dysgenesis|CCMCO|corneal opacification with other ocular anomalies|corneal opacification and other ocular anomalies|anterior segment dysgenesis caused by mutation in PXDN UMLS:C3151617|DOID:0060648|Orphanet:289499|OMIM:269400 MONDO:0000817 owl:Class GO:0050994 biolink:NamedThing regulation of lipid catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of lipids. tmpaxzxjjyw_mondo_relaxed.owl regulation of lipid catabolism|regulation of lipid breakdown|regulation of lipid degradation owl:Class GO:0009894 biolink:NamedThing regulation of catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of substances. tmpaxzxjjyw_mondo_relaxed.owl regulation of degradation|regulation of breakdown|regulation of catabolism owl:Class MONDO:0013715 biolink:NamedThing amyotrophic lateral sclerosis type 16 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SIGMAR1 gene. tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis 16|amyotrophic lateral sclerosis 16, juvenile|SIGMAR1 amyotrophic lateral sclerosis|ALS16|amyotrophic lateral sclerosis caused by mutation in SIGMAR1 Orphanet:300605|OMIM:614373|DOID:0060207|UMLS:C3280587 owl:Class MONDO:0017593 biolink:NamedThing juvenile amyotrophic lateral sclerosis Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age. tmpaxzxjjyw_mondo_relaxed.owl juvenile Lou Gehrig disease|juvenile Charcot disease|amyotrophic lateral sclerosis, juvenile|JALS OMIM:602099|UMLS:C3468114|OMIM:205100|Orphanet:300605|GARD:0011901|SCTID:718555006|OMIM:614373|UMLS:CN239582|ICD10:G12.2 https://rarediseases.info.nih.gov/diseases/11901/juvenile-amyotrophic-lateral-sclerosis owl:Class GO:0008380 biolink:NamedThing RNA splicing The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. tmpaxzxjjyw_mondo_relaxed.owl pre-mRNA splicing factor activity owl:Class GO:0006396 biolink:NamedThing RNA processing Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005076 biolink:NamedThing periodontitis An acute or chronic inflammatory process that affects the tissues that surround and support the teeth. tmpaxzxjjyw_mondo_relaxed.owl chronic pericementitis|periodontosis|periodontium inflammation|inflammation of periodontium ICD10:K05.3|UMLS:C0031099|DOID:9893|MESH:D010518|UMLS:C0600298|ICD10:K05.4|OMIM:170650|DOID:824|OMIM:260950|SCTID:41565005|ICD9:523.5|EFO:0000649|NCIT:C34918 MONDO:0004915 owl:Class MONDO:0006849 biolink:NamedThing mastitis Inflammation of breast tissue during lactation or postpartum due to an obstructed duct or infection. Mastitis can also occur in non-breastfeeding women, and rarely in men. tmpaxzxjjyw_mondo_relaxed.owl breast inflammation|inflammatory breast disease|breast infection|inflammation of breast|inflammatory disease of breast NCIT:C53662|MedDRA:10026883|MESH:D008413|SCTID:45198002|EFO:1001034|UMLS:C0392317|DOID:10690|UMLS:C0024894 owl:Class CL:0008017 biolink:NamedThing adult skeletal muscle myoblast A skeletal muscle myoblast that is part of a skeletal mucle. These cells are formed following acivation and division of skeletal muscle satellite cells. They form a transient population that is lost when they fuse to form skeletal muscle fibers. tmpaxzxjjyw_mondo_relaxed.owl myogenic precursor cell The vast majority of these cells develop from skeletal muscle satellite cells, although there are some reports of other origins. cell owl:Class CL:0000188 biolink:NamedThing cell of skeletal muscle A somatic cell located in skeletal muscle. tmpaxzxjjyw_mondo_relaxed.owl skeletal muscle cell CALOHA:TS-2158|FMA:9727|BTO:0004392 cell owl:Class GO:1905216 biolink:NamedThing positive regulation of RNA binding Any process that activates or increases the frequency, rate or extent of RNA binding. tmpaxzxjjyw_mondo_relaxed.owl activation of RNA binding|upregulation of RNA binding|up regulation of RNA binding|up-regulation of RNA binding owl:Class GO:1905214 biolink:NamedThing regulation of RNA binding Any process that modulates the frequency, rate or extent of RNA binding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022993 biolink:NamedThing dipsogenic diabetes insipidus Diabetes insipidus caused by excessive intake of water due to psychological factors or damage to the thirst-regulating mechanism. tmpaxzxjjyw_mondo_relaxed.owl dipsogenic diabetes insipidus|primary polydipsia|Dipsogenic diabetes insipidus MESH:C548013|NCIT:C129735|GARD:0010703|SCTID:82800008|UMLS:C0268813 https://rarediseases.info.nih.gov/diseases/10703/dipsogenic-diabetes-insipidus owl:Class MONDO:0040870 biolink:NamedThing primary polydipsia A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002067 biolink:NamedThing dermis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013754 biolink:NamedThing integumentary system layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14270 biolink:NamedThing PCDH19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003673 biolink:NamedThing apical myocardial infarction An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the apex of the heart. tmpaxzxjjyw_mondo_relaxed.owl DOID:5848|NCIT:C36073 owl:Class MONDO:0011921 biolink:NamedThing aural atresia, congenital tmpaxzxjjyw_mondo_relaxed.owl aural atresia, congenital|aural atresia, congenital, with hyposmia|CAA Orphanet:141074|MESH:C564321|UMLS:C1842937|OMIM:607842 owl:Class MONDO:0015385 biolink:NamedThing external auditory canal aplasia/hypoplasia tmpaxzxjjyw_mondo_relaxed.owl external auditory canal stenosis/atresia OMIM:607842|OMIM:108760|ICD10:Q16.1|Orphanet:141074 owl:Class GO:0033007 biolink:NamedThing negative regulation of mast cell activation involved in immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation as part of an immune response. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of mast cell activation during immune response owl:Class GO:0050777 biolink:NamedThing negative regulation of immune response Any process that stops, prevents, or reduces the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. tmpaxzxjjyw_mondo_relaxed.owl downregulation of immune response|inhibition of immune response|down regulation of immune response|down-regulation of immune response owl:Class MONDO:0018629 biolink:NamedThing focal stiff limb syndrome tmpaxzxjjyw_mondo_relaxed.owl focal stiff-person syndrome|Stiff leg syndrome OMIM:184850|ICD10:G25.8|Orphanet:443804|UMLS:CN237672 owl:Class MONDO:0008491 biolink:NamedThing stiff-person syndrome Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis. tmpaxzxjjyw_mondo_relaxed.owl SPS|STIFF-PERSON syndrome|Morsch Woltman syndrome|Stiff-Man syndrome|SMS|Moersch-Woltman syndrome|progressive encephalomyelitis with rigidity|Stiff-man syndrome|stiff-person syndrome|Stiff man syndrome|Stiff-trunk syndrome|stiff man syndrome|Stiff Person syndrome|Stiff person syndrome and related disorders MedDRA:10042044|ICD10:G25.8|Orphanet:3198|UMLS:C0085292|NCIT:C85170|ICD9:333.91|SCTID:5217008|UMLS:C1861457|DOID:13366|OMIM:184850|EFO:0007498|MESH:D016750|GARD:0005023|ICD10:G25.82 owl:Class UBERON:0019189 biolink:NamedThing carotid artery endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001986 biolink:NamedThing endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003966 biolink:NamedThing testicular monophasic choriocarcinoma A choriocarcinoma that arises from the testis and is characterized by the predominance of cytotrophoblastic and intermediate trophoblastic cells. Syncytiotrophoblastic cells are absent or not prominent. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515290|NCIT:C39935|DOID:6693 owl:Class MONDO:0003508 biolink:NamedThing choriocarcinoma of testis A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts. tmpaxzxjjyw_mondo_relaxed.owl choriocarcinoma of the testis|choriocarcinoma of testis|testicular choriocarcinoma|choriocarcinoma|testis choriocarcinoma (disease) ONCOTREE:TCCA|DOID:5551|NCIT:C7733|UMLS:C0238449|EFO:1000564 owl:Class MONDO:0021290 biolink:NamedThing carcinoma in situ of appendix A in situ carcinoma that involves the vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl vermiform appendix carcinoma in situ|stage 0 appendix cancer|stage 0 appendix carcinoma|stage 0 vermiform appendix carcinoma|carcinoma in situ of vermiform appendix|vermiform appendix in situ carcinoma|stage 0 appendix carcinoma aJCC v7|carcinoma in situ of the appendix SCTID:92539008|UMLS:C0347125|NCIT:C4593 owl:Class MONDO:0021289 biolink:NamedThing carcinoma in situ of cecum A in situ carcinoma that involves the caecum. tmpaxzxjjyw_mondo_relaxed.owl carcinoma in situ of the cecum|carcinoma in situ of caecum|stage 0 caecum carcinoma|cecum carcinoma in situ aJCC v7|cecum carcinoma in situ|stage 0 cecum carcinoma|cecum carcinoma in situ aJCC v6|caecum carcinoma in situ|caecum in situ carcinoma SCTID:92559007|UMLS:C0347126|NCIT:C4594 owl:Class GO:0106122 biolink:NamedThing negative regulation of cobalamin metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of a cobalamin metabolic process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901402 biolink:NamedThing negative regulation of tetrapyrrole metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of tetrapyrrole metabolic process. tmpaxzxjjyw_mondo_relaxed.owl inhibition of tetrapyrrole metabolism|down-regulation of tetrapyrrole metabolism|down regulation of tetrapyrrole metabolism|downregulation of tetrapyrrole metabolic process|inhibition of tetrapyrrole metabolic process|downregulation of tetrapyrrole metabolism|down-regulation of tetrapyrrole metabolic process|negative regulation of tetrapyrrole metabolism|down regulation of tetrapyrrole metabolic process owl:Class MONDO:0100482 biolink:NamedThing extensively drug-resistant tuberculosis A type of drug-resistant tuberculosis that is resistant to any fluoroquinolone, and at least one of three second-line injectable drugs (capreomycin, kanamycin, and amikacin), in addition to resistance to rifampicin and isoniazid. tmpaxzxjjyw_mondo_relaxed.owl XDR-TB http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0041806 biolink:NamedThing drug-resistant tuberculosis Tuberculosis disease caused by Mycobacterium tuberculosis isolate that is resistant to one or more of the antitubercular medications. tmpaxzxjjyw_mondo_relaxed.owl drug resistant tuberculosis SCTID:423709000 owl:Class MONDO:0009045 biolink:NamedThing cataract-nephropathy-encephalopathy syndrome Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963. tmpaxzxjjyw_mondo_relaxed.owl congenital cataracts, renal tubular necrosis and encephalopathy in two sisters|crome syndrome OMIM:218900|Orphanet:1380|MESH:C536216|UMLS:C0795914|ICD10:Q87.8|GARD:0001614|SCTID:722381004 owl:Class MONDO:0011101 biolink:NamedThing peroxisome biogenesis disorder 1B tmpaxzxjjyw_mondo_relaxed.owl PBD1B|infantile phytanic acid storage disease|peroxisome biogenesis disorder 1B|peroxisome biogenesis disorder (NALD/Ird)|Refsum disease, infantile|peroxisome biogenesis disorder type 1B|peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)|adrenoleukodystrophy, autosomal neonatal Orphanet:772|OMIM:601539|Orphanet:44|UMLS:CN168921|UMLS:C0282527 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100259 biolink:NamedThing peroxisome biogenesis disorder due to PEX1 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene. tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX1 defect|PEX1 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0036918 biolink:NamedThing punctate acrokeratoderma freckle-like pigmentation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99710 owl:Class MONDO:0019271 biolink:NamedThing acrokeratoderma tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q82.8|Orphanet:79356 owl:Class GO:0120189 biolink:NamedThing positive regulation of bile acid secretion Any process that activates or increases the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001834 biolink:NamedThing visual pathway disorder A disorder of the neural pathway from the optic nerve to the visual cortex. tmpaxzxjjyw_mondo_relaxed.owl optic tract disease|disease of optic tract|optic tract disease or disorder|optic tract disorder|visual pathway disorder|disease or disorder of optic tract|disorder of optic tract NCIT:C35342|SCTID:54767005|UMLS:C0155287|SCTID:95776004|DOID:1393|ICD10:H47.9 Editor note: see notes on uberon class, different sources are more or less inclusive on where the ends of the tract/pathway are. DO is very inclusive and includes entire visual cortex; NCIT does not include any subclasses. Consider using a more generic concept than optic tract owl:Class UBERON:0001322 biolink:NamedThing sciatic nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CARO_0001001 biolink:NamedThing neuron projection bundle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001940 biolink:NamedThing pleuropneumonia Inflammation of the lung parenchyma that is associated with pleurisy, inflammation of the pleura. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032241|SCTID:60485005|DOID:14319|MESH:D011001 owl:Class MONDO:0000986 biolink:NamedThing pleurisy Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom. tmpaxzxjjyw_mondo_relaxed.owl pleuritis|inflammation of pleura|pleura inflammation NCIT:C26860|ICD9:511.8|DOID:10247|MESH:D010998|EFO:1001825|ICD10:R09.1|UMLS:C0032231|SCTID:196075003 owl:Class HP:0002240 biolink:NamedThing Hepatomegaly Abnormally increased size of the liver. tmpaxzxjjyw_mondo_relaxed.owl Enlarged liver SNOMEDCT_US:80515008|MSH:D006529|UMLS:C0019209 HP:0001393|HP:0001398 human_phenotype owl:Class HP:0410042 biolink:NamedThing Abnormal liver morphology Any structural anomaly of the bile-secreting organ that is important for detoxification, for fat, carbohydrate, and protein metabolism, and for glycogen storage. tmpaxzxjjyw_mondo_relaxed.owl 2017-09-20 00:22:53+00:00 Fyler:4447 ORCID:0000-0001-5208-3432 human_phenotype owl:Class CHEBI:38702 biolink:NamedThing inorganic sodium salt tmpaxzxjjyw_mondo_relaxed.owl inorganic sodium salts owl:Class CHEBI:24839 biolink:NamedThing inorganic salt tmpaxzxjjyw_mondo_relaxed.owl anorganisches Salz|inorganic salts owl:Class MONDO:0044138 biolink:NamedThing hyalitis Inflammatory intraocular reaction with clouding and cells in vitreous; often accompanies inflammation of ciliary body, iris, choroid, or retina. tmpaxzxjjyw_mondo_relaxed.owl Vitreitis|vitritis|Vitritis|hyalitis|hyaloiditis SCTID:95802009|UMLS:C0235812|NCIT:C50587|EFO:1001907 owl:Class MONDO:0044137 biolink:NamedThing vitreous body disorder Any disease affecting the vitreous body of the eye. tmpaxzxjjyw_mondo_relaxed.owl disorder of vitreous body|disease of vitreous body|vitreous body disease|vitreous body disorder|disease or disorder of vitreous body|vitreous body disease or disorder SCTID:76682005|EFO:0008624|UMLS:C0155365|NCIT:C45256|ICD9:379.29 owl:Class GO:0043032 biolink:NamedThing positive regulation of macrophage activation Any process that stimulates, induces or increases the rate of macrophage activation. tmpaxzxjjyw_mondo_relaxed.owl upregulation of macrophage activation|activation of macrophage activation|up-regulation of macrophage activation|stimulation of macrophage activation|positive regulation of macrophage polarization|up regulation of macrophage activation owl:Class GO:0043030 biolink:NamedThing regulation of macrophage activation Any process that modulates the frequency or rate of macrophage activation. tmpaxzxjjyw_mondo_relaxed.owl regulation of macrophage polarization owl:Class UBERON:0000947 biolink:NamedThing aorta tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013768 biolink:NamedThing great vessel of heart tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003727 biolink:NamedThing animal phobia An overwhelming, irrational, and persistent fear of animals. tmpaxzxjjyw_mondo_relaxed.owl zoophobia|fear of animals|fear of animals (finding)|zoophobia (finding) EFO:1001876|NCIT:C35273|DOID:600 owl:Class MONDO:0012000 biolink:NamedThing specific phobia An anxiety disorder characterized by an intense, irrational fear cued by the presence or anticipation of a specific object or situation. Exposure to the phobic stimulus immediately provokes an anxiety response. In adults, the specific phobia is recognized as excessive or unreasonable. tmpaxzxjjyw_mondo_relaxed.owl phobia, simple|simple phobia|phobia, specific SCTID:54587008|OMIM:608251|NCIT:C35284|EFO:1001918|DOID:599|MESH:C562465|ICD10:F40.2|ICD9:300.29 owl:Class MONDO:0009558 biolink:NamedThing Treacher Collins syndrome 3 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene. tmpaxzxjjyw_mondo_relaxed.owl mandibulofacial dysostosis, Treacher Collins type, autosomal recessive|TREACHER COLLINS syndrome 3|POLR1C Treacher-Collins syndrome|Treacher-Collins syndrome caused by mutation in POLR1C|TCS3|Treacher Collins syndrome type 3|Treacher Collins syndrome 3 MESH:C535707|Orphanet:861|OMIM:248390|GARD:0009125 https://rarediseases.info.nih.gov/diseases/9125/treacher-collins-syndrome-3 owl:Class MONDO:0002457 biolink:NamedThing Treacher-Collins syndrome Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. tmpaxzxjjyw_mondo_relaxed.owl Franceschetti syndrome|TCS|MFD1|Franceschetti-Klein syndrome|TCOF|Treacher-Collins syndrome|mandibulofacial dysostosis without limb anomalies|Treacher Collins syndrome OMIM:154500|NCIT:C75018|OMIM:613717|GARD:0009124|Orphanet:861|OMIM:248390|MESH:D008342|MedDRA:10051456|ICD10:Q75.4|UMLS:C0265241|OMIMPS:154500|DOID:2908|SCTID:62767009 owl:Class MONDO:0012280 biolink:NamedThing Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. tmpaxzxjjyw_mondo_relaxed.owl Goldberg-Shprintzen megacolon syndrome|megacolon-microcephaly syndrome|GOSHS|Goldberg-Shprintzen syndrome OMIM:609460|ICD10:Q87.8|UMLS:C1836123|GARD:0009849|Orphanet:66629|SCTID:717822006|MESH:C537279|DOID:0060481 owl:Class GO:0032412 biolink:NamedThing regulation of ion transmembrane transporter activity Any process that modulates the activity of an ion transporter. tmpaxzxjjyw_mondo_relaxed.owl regulation of ion transporter activity owl:Class GO:0022898 biolink:NamedThing regulation of transmembrane transporter activity Any process that modulates the frequency, rate or extent of transmembrane transporter activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016106 biolink:NamedThing progressive muscular dystrophy tmpaxzxjjyw_mondo_relaxed.owl progressive muscular dystrophy ICD10:G71.0|UMLS:CN241791|GARD:0012583|Orphanet:206644 owl:Class MONDO:0001340 biolink:NamedThing heart cancer A malignant neoplasm involving the heart tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the heart|Cardiac tumor|malignant Cardiac tumor|malignant tumor of the heart|cancer of heart|malignant heart tumor|heart cancer|malignant tumor of heart|Cardiac neoplasm, malignant|tumour of heart|malignant neoplasm of heart|malignant Cardiac neoplasm|malignant heart neoplasm ICD10:C38.0|NCIT:C3081|NCIT:C3548|MESH:D006338|ICD9:164.1|DOID:117 owl:Class MONDO:0009242 biolink:NamedThing brittle cornea syndrome Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility. tmpaxzxjjyw_mondo_relaxed.owl BCS1|Ehlers-Danlos syndrome type 6b|brittle cornea syndrome 1|brittle cornea syndrome 2|brittle cornea syndrome type 1|type VIB Ehlers-Danlos syndrome|brittle cornea syndrome|kyphoscoliosis type|EDS VIB (formerly)|Ehlers-Danlos syndrome type 6B (formerly) OMIMPS:229200|OMIM:229200|GARD:0001019|Orphanet:90354|UMLS:C0268342|MESH:C536198|SCTID:719096006|DOID:14775|ICD10:Q79.6|OMIM:614170 https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome owl:Class MONDO:0007866 biolink:NamedThing Bart-Pumphrey syndrome tmpaxzxjjyw_mondo_relaxed.owl knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome|knuckle pads, leuconychia and sensorineural deafness|Bart-Pumphrey syndrome|knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome|knuckle pads, leukonychia, and sensorineural deafness GARD:0003125|ICD9:759.89|ICD10:Q82.8|SCTID:1271009|OMIM:149200|MESH:C537210|Orphanet:2698|DOID:0050658 owl:Class MONDO:0011742 biolink:NamedThing hirschsprung disease, susceptibility to, 7 tmpaxzxjjyw_mondo_relaxed.owl Hirschsprung disease, susceptibility to, 7|HSCR7 Orphanet:388|OMIM:606875 owl:Class MONDO:0008371 biolink:NamedThing Dowling-Degos disease A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. tmpaxzxjjyw_mondo_relaxed.owl reticular pigment anomaly of flexures|Dowling-Degos disease 1|Dowling-Degos disease type 1|DDD1|Dowling-Degos Kitamura disease|dark dot disease GARD:0009775|OMIM:615696|SCTID:239133004|MedDRA:10068651|OMIM:615327|Orphanet:79145|OMIM:615674|ICD10:L81.8|MESH:C562924|DOID:0060256|OMIM:179850 owl:Class MONDO:0018293 biolink:NamedThing congenital disorder of glycosylation with skin involvement tmpaxzxjjyw_mondo_relaxed.owl CDG with skin involvement 2022-03-01 Orphanet:371200|ICD10:E77.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: congenital disorder of glycosylation' MONDO_0015286 owl:Class OBO:CHR_9606-chr20q13.3 biolink:NamedThing 20q13.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 64444167 56400000 hg38 owl:Class MONDO:0008753 biolink:NamedThing alkaptonuria Alkaptonuria is a metabolic disease characterized by the accumulation of homogentisic acid (HGA) and its oxidized product, benzoquinone acetic acid (BQA), in various tissues (e.g. cartilage, connective tissue) and body fluids (urine, sweat), causing urine to darken when exposed to air as well as grey-blue coloration of the sclera and ear helix (ochronosis), and a disabling joint disease involving both the axial and peripheral joints (ochronotic arthropathy). tmpaxzxjjyw_mondo_relaxed.owl homogentisic acidura|homogentisic acid oxidase deficiency|alkaptonuria|alcaptonuria|hereditary ochronosis|deficiency of homogentisicase|ochronosis, hereditary|aku|homogentisate 1,2-dioxygenase deficiency|alkaptonuric ochronosis ICD10:E70.29|DOID:9270|GARD:0005775|OMIM:203500|UMLS:C0002066|MESH:D000474|Orphanet:56|NCIT:C84546|ICD10:E70.2|UMLS:C2931645|SCTID:360378009|MedDRA:10001689|ICD9:270.2 https://rarediseases.info.nih.gov/diseases/5775/alkaptonuria owl:Class MONDO:0017307 biolink:NamedThing disorder of tyrosine metabolism tmpaxzxjjyw_mondo_relaxed.owl SCTID:37200009|Orphanet:284818|ICD10:E70.2|ICD9:270.2|UMLS:CN202881 owl:Class MONDO:0002489 biolink:NamedThing malignant breast phyllodes tumor A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present. tmpaxzxjjyw_mondo_relaxed.owl malignant phyllodes tumor of the breast|malignant phyllodes tumor of breast|breast malignant phyllodes tumor|malignant phyllodes tumor (morphologic abnormality)|malignant cystosarcoma phyllodes|malignant phyllodes neoplasm of the breast|breast phyllodes tumor, malignant|phyllodes tumor, malignant (morphologic abnormality)|malignant mammary phyllodes tumor|malignant cystosarcoma phyllodes (morphologic abnormality)|phyllodes breast neoplasm|malignant breast phyllodes neoplasm|malignant phyllodes neoplasm|malignant mammary phyllodes neoplasm|malignant cystosarcoma phyllodes of breast|malignant phyllodes breast neoplasm|malignant phyllodes neoplasm of breast|malignant breast phyllodes tumor|malignant cystosarcoma phyllodes of the breast|phyllodes breast tumor SCTID:254844000|ONCOTREE:MPT|DOID:3016|SCTID:712989008|NCIT:C4504|EFO:0008545|MESH:D003557 owl:Class NCBITaxon:171549 biolink:NamedThing Bacteroidales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:28905708 ncbi_taxonomy owl:Class NCBITaxon:200643 biolink:NamedThing Bacteroidia tmpaxzxjjyw_mondo_relaxed.owl Bacteroidetes GC_ID:11 ncbi_taxonomy owl:Class CL:0002429 biolink:NamedThing CD69-positive double-positive thymocyte A double-positive thymocyte that is CD69-positive and has begun positive selection. tmpaxzxjjyw_mondo_relaxed.owl T.DP69+.Th tmeehan 2010-10-21T02:11:52Z cell owl:Class CL:0000809 biolink:NamedThing double-positive, alpha-beta thymocyte A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. tmpaxzxjjyw_mondo_relaxed.owl DP cell|DP thymocyte|late cortical thymocyte|double-positive, alpha-beta immature T lymphocyte Thymocytes of this stage are undergoing positive and negative selection. cell owl:Class MONDO:0021106 biolink:NamedThing laminopathy A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN236383|Orphanet:98301 owl:Class MONDO:0018939 biolink:NamedThing muscle-eye-brain disease A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported. tmpaxzxjjyw_mondo_relaxed.owl MEB syndrome|muscle-eye-brain syndrome|Santavuori congenital muscular dystrophy|MEB|muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3|muscle eye brain disease OMIM:615350|ICD9:742.4|OMIM:253800|OMIM:236670|ICD10:Q04.3|SCTID:277950001|OMIM:613150|Orphanet:588|GARD:0000156|OMIM:613153|OMIM:253280|OMIM:615181|OMIM:613154 https://rarediseases.info.nih.gov/diseases/156/muscle-eye-brain-disease owl:Class MONDO:0700066 biolink:NamedThing myopathy caused by variation in FKRP Any myopathy in which the cause of the disease is a variation in the FKRP gene. tmpaxzxjjyw_mondo_relaxed.owl FKRP myopathy|FKRP-related myopathy|myopathy caused by mutation in FKRP http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0007702 biolink:NamedThing heart-hand syndrome type 3 Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. tmpaxzxjjyw_mondo_relaxed.owl atriodigital dysplasia type 3|heart-hand syndrome, Spanish type|brachydactyly and intraventricular conduction defect|Cardiomelic syndrome type 3|heart-limb syndrome type 3|upper limb malformations and congenital cardiac anomalies UMLS:C1841657|SCTID:721013001|Orphanet:1342|OMIM:140450|MESH:C535853|ICD10:Q87.2|GARD:0002614 owl:Class MONDO:0007732 biolink:NamedThing Holt-Oram syndrome Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. tmpaxzxjjyw_mondo_relaxed.owl HOS 1|Cardiac-limb syndrome|heart-hand syndrome type 1|heart-hand syndrome, type 1|Hos1|atriodigital dysplasia type 1|atriodigital dysplasia|heart-hand syndrome|Holt-Oram syndrome|ventriculo-radial syndrome|HOS|atrio digital syndrome|HOLT-Oram syndrome|atrio-digital syndrome OMIM:142900|DOID:0060468|GARD:0006666|UMLS:C0265264|ICD9:759.89|MESH:C535326|MedDRA:10050469|NCIT:C125592|SCTID:19092004|ICD10:Q87.2|Orphanet:392 owl:Class MONDO:0004110 biolink:NamedThing refractory hairy cell leukemia Hairy cell leukemia that is resistant to treatment. tmpaxzxjjyw_mondo_relaxed.owl hairy cell leukemia, refractory|refractory hairy cell leukemia NCIT:C8030|DOID:711|UMLS:C0279780 Editor note: TODO refractory DP owl:Class MONDO:0004111 biolink:NamedThing refractory hematologic cancer A hematologic malignancy that is resistant to treatment. tmpaxzxjjyw_mondo_relaxed.owl refractory hematologic cancer|refractory hematologic malignancy UMLS:C1335724|NCIT:C27357|DOID:712 owl:Class MONDO:0008465 biolink:NamedThing Patterson-Stevenson-Fontaine syndrome Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies. tmpaxzxjjyw_mondo_relaxed.owl Patterson Stevenson Fontaine syndrome|split-foot deformity with ectrodactyly and mandibulofacial dysostosis|split foot deformity-mandibulofacial dysostosis syndrome|split-foot deformity with mandibulofacial dysostosis|Patterson-Stevenson syndrome|Patterson-Stevenson-Fontaine syndrome UMLS:C1866741|GARD:0004260|OMIM:183700|ICD10:Q87.0|Orphanet:2439|SCTID:724069009 https://rarediseases.info.nih.gov/diseases/4260/patterson-stevenson-fontaine-syndrome owl:Class MONDO:0015334 biolink:NamedThing branchial arch or oral-acral syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199364|Orphanet:139036 owl:Class UBERON:0010309 biolink:NamedThing palpebral bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003462 biolink:NamedThing facial bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050968 biolink:NamedThing detection of chemical stimulus involved in sensory perception of pain The series of events involved in the perception of pain in which a chemical stimulus is received and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl perception of pain, sensory transduction of chemical stimulus|perception of pain, detection of chemical stimulus|sensory transduction of chemical stimulus during perception of pain|perception of pain, sensory detection of chemical stimulus|sensory detection of chemical stimulus during perception of pain|chemical nociception owl:Class GO:0009593 biolink:NamedThing detection of chemical stimulus The series of events in which a chemical stimulus is received by a cell and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl chemoperception|detection of chemical substance|perception of chemical substance|chemoreception|perception of chemical stimulus owl:Class UBERON:0010719 biolink:NamedThing girdle skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013485 biolink:NamedThing spinocerebellar ataxia type 35 Spinocerebellar ataxia type 35 (SCA35) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the adult-onset of progressive gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, hyperreflexia and spasmodic torticollis. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia type 35|SCA35|spinocerebellar ataxia 35 OMIM:613908|GARD:0012366|ICD10:G11.8|Orphanet:276193|UMLS:CN202597|SCTID:719300001|DOID:0050982|UMLS:C4304822 owl:Class MONDO:0008725 biolink:NamedThing congenital lipoid adrenal hyperplasia due to STAR deficency Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males. tmpaxzxjjyw_mondo_relaxed.owl congenital adrenal hyperplasia lipoid|LCAH|lipoid congenital adrenal hyperplasia|CLAH|adrenal hyperplasia 1|lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism UMLS:C0342474|OMIM:201710|GARD:0001465|SCTID:44231009|Orphanet:418|ICD10:E25.0|Orphanet:90790 owl:Class MONDO:0012896 biolink:NamedThing psoriasis 10, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl PSORS10|psoriasis 10, susceptibility to DOID:0111289|OMIM:612410 owl:Class MONDO:0009159 biolink:NamedThing Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos syndrome, cardiac valvular type is a form of Ehlers-Danlos syndrome characterized by soft skin, skin hyperextensibility, easy bruisability, atrophic scar formation, joint hypermobility and cardiac valvular defects comprising mitral and/or aortic valve insufficiency. tmpaxzxjjyw_mondo_relaxed.owl Cardiac-valvular EDS|cvEDS|Ehlers-Danlos syndrome, CARDIAC valvular type|Cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, autosomal recessive, Cardiac valvular form|Ehlers-Danlos syndrome, arthrochalasis type|EDS, cardiac valvular type|EDSCV|Cardiac-valvular Ehlers-Danlos syndrome|Cardiac valvular form of Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, autosomal recessive, CARDIAC valvular form ICD10:Q79.6|Orphanet:230851|OMIM:225320|SCTID:720858001|GARD:0012613|MESH:C536200 owl:Class MONDO:0020066 biolink:NamedThing Ehlers-Danlos syndrome The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. tmpaxzxjjyw_mondo_relaxed.owl ED syndrome|Danlos Disease, Ehlers|Hereditary collagen dysplasia|Dystrophia mesodermalis congenita|Disease, Ehlers Danlos|Syndrome, Ehlers-Danlos|skin elastic|Ehlers-Danlos syndromes|Ehler Danlos Syndrome|elastic skin|Disease, Ehlers-Danlos|Danlos disease|Ehlers Danlos syndrome|Ehlers Danlos Disease|Ehlers-Danlos Disease|EDS|Fibrodysplasia elastica generalisata|Meekeren-Ehlers-Danlos syndrome|danlos ehlers syndrome ICD10:Q79.6|ICD9:756.83|NCIT:C34568|Orphanet:98249|MESH:D004535|MedDRA:10014316|GARD:0006322|UMLS:C0013720|DOID:13359|OMIM:225400|SCTID:398114001|OMIMPS:130000 India rubber skin|Cutis hyperelastica owl:Class MONDO:0022821 biolink:NamedThing congenital benign spinal muscular atrophy dominant tmpaxzxjjyw_mondo_relaxed.owl GARD:0001474 https://rarediseases.info.nih.gov/diseases/1474/congenital-benign-spinal-muscular-atrophy-dominant owl:Class UBERON:0006947 biolink:NamedThing male genital duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005904 biolink:NamedThing duct of male reproductive system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006442 biolink:NamedThing tendon sheath fibroma A small, slow growing, benign neoplasm arising from the tendon sheaths. The tumor is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation. tmpaxzxjjyw_mondo_relaxed.owl tendon sheath fibroma|fibroma of tendon sheath|fibroma of the tendon sheath UMLS:C1275236|ICD9:215.9|NCIT:C6485|EFO:1000561|SCTID:403992002 owl:Class MONDO:0024876 biolink:NamedThing tendon sheath disorder A disease that involves the tendon sheath. tmpaxzxjjyw_mondo_relaxed.owl disease of tendon sheath|disease or disorder of tendon sheath|tendon sheath disorder|tendon sheath disease or disorder|disorder of tendon sheath|tendon sheath disease UMLS:C0729734|ICD9:727.9|SCTID:312381009 owl:Class MONDO:0006917 biolink:NamedThing posterior cerebral artery infarction Necrosis induced by ischemia in the posterior cerebral artery distribution system which supplies portions of the brain stem; the thalamus; temporal lobe, and occipital lobe. Depending on the size and location of infarction, clinical features include olfaction disorders and visual problems (agnosia; alexia; hemianopsia). tmpaxzxjjyw_mondo_relaxed.owl MESH:D020762|EFO:1001118|DOID:3821|UMLS:C0752132 owl:Class MONDO:0002679 biolink:NamedThing cerebral infarction An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries. tmpaxzxjjyw_mondo_relaxed.owl cerebral, infarction|telencephalon brain infarction|cerebral infarct|CVA - cerebral infarction|infarction, cerebral|cerebral ischemia|brain infarction of telencephalon ICD9:433.01|ICD9:433.81|UMLS:C0007785|MESH:D002544|DOID:3526|SCTID:20059004|ICD9:433.31|ICD9:434.91|SCTID:432504007|ICD9:433.21|ICD10:I63|ICD10:I63.9|NCIT:C50486 owl:Class MONDO:0010021 biolink:NamedThing seizures, benign familial neonatal, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl convulsions, benign familial neonatal, autosomal recessive|autosomal dominant form of benign neonatal seizures|seizures, benign familial neonatal, autosomal recessive|Bfns, autosomal recessive|epilepsy, benign familial neonatal, autosomal recessive|convulsions benign familial neonatal dominant form OMIM:269720|MESH:C564823|Orphanet:1949|UMLS:C1849250|GARD:0001519 owl:Class MONDO:0016027 biolink:NamedThing benign neonatal seizures A rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life. tmpaxzxjjyw_mondo_relaxed.owl BFNS|seizures, benign familial neonatal|benign familial convulsion|benign familal neonatal seizures|benign neonatal convulsions|benign familial neonatal seizures|benign familial convulsions|benign familial neonatal convulsions OMIMPS:121200|DOID:14264|OMIM:269720|OMIM:121201|ICD10:G40.3|Orphanet:1949|MedDRA:10067866|SCTID:38281008|OMIM:608217|OMIM:121200|NCIT:C117307|UMLS:C1852581 owl:Class MONDO:0003702 biolink:NamedThing uterus intravascular leiomyomatosis A rare benign neoplasm characterized by the presence of smooth muscle cells growing within the veins of the uterine corpus. The intravascular neoplasm growth occurs outside the confines of an adjacent leiomyoma. tmpaxzxjjyw_mondo_relaxed.owl uterine corpus intravenous leiomyomatosis|intravenous leiomyomatosis of uterus|intravascular leiomyomatosis of the uterus|intravenous leiomyomatosis of the uterus|uterus intravenous leiomyomatosis|intravascular leiomyomatosis of uterus DOID:5915|NCIT:C5356 owl:Class MONDO:0003614 biolink:NamedThing intravenous leiomyomatosis A rare benign neoplasm characterized by the presence of smooth muscle cells growing within veins. tmpaxzxjjyw_mondo_relaxed.owl intravenous leiomyomatosis NCIT:C4518|DOID:5729|UMLS:C0346200|NCIT:C5356|ICD9:238.1|SCTID:254883003|GARD:0010802 https://rarediseases.info.nih.gov/diseases/10802/intravenous-leiomyomatosis owl:Class GO:0022409 biolink:NamedThing positive regulation of cell-cell adhesion Any process that activates or increases the rate or extent of cell adhesion to another cell. tmpaxzxjjyw_mondo_relaxed.owl upregulation of cell-cell adhesion|activation of cell-cell adhesion|up regulation of cell-cell adhesion|stimulation of cell-cell adhesion|up-regulation of cell-cell adhesion owl:Class CL:1000507 biolink:NamedThing kidney tubule cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001020 cell owl:Class CL:1000497 biolink:NamedThing kidney cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001010 cell owl:Class MONDO:0018106 biolink:NamedThing hereditary xanthinuria Hereditary xanthinuria is a purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. tmpaxzxjjyw_mondo_relaxed.owl xanthic urolithiasis|xanthine dehydrogenase deficiency|xanthinuria|classic xanthinuria|xanthine stone disease|hereditary xanthinuria SCTID:54627004|MESH:C566358|ICD9:277.2|HP:0010934|OMIMPS:278300|ICD10:E79.8|OMIM:278300|MESH:C562584|SCTID:72682008|UMLS:C1863688|Orphanet:3467|OMIM:603592|DOID:0060236 owl:Class MONDO:0014611 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 4 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene. tmpaxzxjjyw_mondo_relaxed.owl ISCA2 fatal multiple mitochondrial dysfunctions syndrome|multiple mitochondrial dysfunctions syndrome type 4|multiple mitochondrial dysfunctions syndrome 4|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2|MMDS4 Orphanet:457406|UMLS:C4225348|DOID:0080136|OMIM:616370 owl:Class MONDO:0013947 biolink:NamedThing young adult-onset distal hereditary motor neuropathy Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared. tmpaxzxjjyw_mondo_relaxed.owl DSMA5|autosomal recessive distal spinal muscular atrophy type 5|Young adult-onset dHMN|spinal muscular atrophy, distal, autosomal recessive, 5|spinal muscular atrophy, distal, autosomal recessive, type 5|dSMA5 UMLS:C3553989|OMIM:614881|ICD10:G12.2|Orphanet:314485 owl:Class MONDO:0015363 biolink:NamedThing autosomal recessive distal hereditary motor neuropathy Autosomal recessive form of distal hereditary motor neuropathy. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive distal spinal muscular atrophy|autosomal recessive dSMA|distal hereditary motor neuropathy, autosomal recessive|autosomal recessive dHMN ICD10:G12.2|UMLS:CN228931|Orphanet:140468|DOID:0111197 owl:Class MONDO:0007064 biolink:NamedThing adenosine deaminase deficiency A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections. tmpaxzxjjyw_mondo_relaxed.owl ADA deficiency|severe combined immunodeficiency due to ADA deficiency|adenosine deaminase deficient severe combined immunodeficiency|adenosine deaminase deficiency, partial|adenosine deaminase deficiency|SCID due to ADA deficiency, delayed onset|ADA-SCID|partial ADA deficiency|severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-NEGATIVE, NK cell-NEGATIVE, due to adenosine deaminase deficiency|SCID due to ADA deficiency|ADA|SCID due to ADA deficiency, early-onset|SCID due to adenosine deaminase deficiency|SCID due to ADA deficiency, late-onset|severe combined immunodeficiency due to adenosine deaminase deficiency NCIT:C3962|SCTID:44940001|MESH:C531816|ICD10:D81.3|EFO:0009147|GARD:0005748|CSP:1560-6660|Orphanet:277|ICD9:277.2|MedDRA:10066367|OMIM:102700|DOID:5810 https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency owl:Class MONDO:0017855 biolink:NamedThing T-B- severe combined immunodeficiency T-B- severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T and B lymphocytes, resulting in recurrent early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive. Hypersensitivity to ionizing radiation is a characteristic feature of some of its sub-types. tmpaxzxjjyw_mondo_relaxed.owl T-B- SCID ICD10:D81.1|Orphanet:317419 owl:Class MONDO:0025385 biolink:NamedThing bluetongue A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet. tmpaxzxjjyw_mondo_relaxed.owl tongue, blue|blue tongue UMLS:C0005866|MESH:D001819 owl:Class MONDO:0005939 biolink:NamedThing Reoviridae infectious disease Infections produced by reoviruses, general or unspecified. tmpaxzxjjyw_mondo_relaxed.owl Reovirus infections|infections, Reovirus|infection, Reovirus|Reovirus infection|infection, Reoviridae|Reoviridae infection|infections, Reoviridae MESH:D012088|UMLS:C0035112|EFO:0007464 owl:Class MONDO:0013030 biolink:NamedThing dilated cardiomyopathy 1BB Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene. tmpaxzxjjyw_mondo_relaxed.owl CMD1BB|DSG2 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1BB|cardiomyopathy, dilated, 1BB|cardiomyopathy, dilated, type 1Bb|familial isolated dilated cardiomyopathy caused by mutation in DSG2 MESH:C567877|ICD10:I42.0|UMLS:C2752072|OMIM:612877|DOID:0110458 owl:Class MONDO:0015470 biolink:NamedThing familial isolated dilated cardiomyopathy Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia. tmpaxzxjjyw_mondo_relaxed.owl familial isolated dilated cardiomyopathy|familial or idiopathic dilated cardiomyopathy OMIM:612158|OMIM:302045|OMIM:606685|OMIM:613426|OMIM:613424|OMIM:612877|OMIM:613252|OMIM:601494|OMIM:615396|Orphanet:154|OMIM:600884|OMIM:604145|UMLS:C0340427|OMIM:609909|OMIM:604288|OMIM:609915|ICD10:I42.0|OMIM:605582|OMIM:611407|OMIM:613172|OMIM:613740|OMIM:601493|OMIM:611880|OMIM:615916|OMIM:613122|OMIM:608569|OMIM:604765|OMIM:611615|OMIM:613642|OMIM:613881|OMIM:607482|OMIM:613697|OMIM:601154|OMIM:611879|OMIM:615248|OMIM:611878|OMIM:615235|UMLS:CN199609|OMIM:615373|OMIM:615184|OMIM:614672|OMIM:613694|OMIM:613286 owl:Class MONDO:0018467 biolink:NamedThing nephropathic infantile cystinosis Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. tmpaxzxjjyw_mondo_relaxed.owl CTNS|cystinosis, atypical nephropathic|cystinosis, infantile nephropathic|cystinosin, defect of|lysosomal cystine transport protein, defect of|nephropathic infantile cystinosis UMLS:C0010690|ICD10:N16.3*|Orphanet:411629|OMIM:219800|Orphanet:213|ICD10:E72.0+ owl:Class MONDO:0100151 biolink:NamedThing nephropathic cystinosis An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. tmpaxzxjjyw_mondo_relaxed.owl Abderhalden Kaufmann Lignac syndrome|Abderhalden-Lignac-Kaufmann disease|CTNS|cystinosis, nephropathic|Abderhalden Lignac Kaufmann disease|Abderhalden-Kaufmann-Lignac syndrome MESH:C535335|OMIM:219800|NCIT:C129932|UMLS:C2930877 owl:Class UBERON:0000114 biolink:NamedThing lung connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002384 biolink:NamedThing connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004645 biolink:NamedThing cheek mucosa cancer A malignant neoplasm involving the buccal mucosa. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of the buccal mucosa|malignant buccal mucosa tumor|buccal mucosa cancer|malignant neoplasm of the buccal mucosa|cancer of buccal mucosa|malignant neoplasm of cheek, inner aspect|malignant buccal mucosa neoplasm|malignant neoplasm of buccal mucosa|malignant tumor of buccal mucosa ICD9:145.0|SCTID:363386008|DOID:8702|ICD10:C06.0|NCIT:C9320|UMLS:C0153373 owl:Class MONDO:0021241 biolink:NamedThing buccal mucosa neoplasm A neoplasm (disease) that involves the buccal mucosa. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the buccal mucosa|neoplasm of buccal mucosa|tumor of buccal mucosa|buccal mucosa tumor|tumor of the buccal mucosa|buccal mucosa neoplasm (disease) NCIT:C4405|UMLS:C0345563|SCTID:126802007 owl:Class MONDO:0009786 biolink:NamedThing optic atrophy 6 tmpaxzxjjyw_mondo_relaxed.owl optic atrophy 6|OPA6|optic atrophy, congenital or early infantile, autosomal recessive DOID:0111435|OMIM:258500|Orphanet:99012|MESH:C537127|GARD:0010200 owl:Class MONDO:0014753 biolink:NamedThing autosomal recessive optic atrophy tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive isolated optic atrophy|autosomal recessive nonsyndromic optic atrophy ICD10:H47.2|OMIM:616732|OMIM:612989|UMLS:CN229293|OMIM:616289|Orphanet:98676|OMIM:617302|OMIM:258500 ORDO treats as isolated but includes syndromic forms as OMIM xrefs owl:Class MONDO:0014379 biolink:NamedThing ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13. tmpaxzxjjyw_mondo_relaxed.owl HVDAS|ADNP syndrome|autosomal dominant intellectual disability 28|MRD28|ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder|intellectual disability, autosomal dominant 28|autosomal dominant mental retardation 28|Helsmoortel-VAN DER AA syndrome|mental retardation, autosomal dominant 28 UMLS:C4014538|OMIM:615873|SCTID:766824003|DOID:0070058|Orphanet:404448|ICD10:Q87.0|GARD:0012931 owl:Class GO:0015701 biolink:NamedThing bicarbonate transport The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015711 biolink:NamedThing organic anion transport The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012377 biolink:NamedThing asperger syndrome, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl ASPERGER syndrome, susceptibility to, 4|ASPG4 OMIM:609954 owl:Class MONDO:0005259 biolink:NamedThing Asperger syndrome A disorder most often diagnosed in the pediatric years in which the individual displays marked impairment in social interaction and a repetitive, stereotyped pattern of behavior. The individual, however, displays no delay in language or cognitive development, which differentiates Asperger Syndrome from autism. tmpaxzxjjyw_mondo_relaxed.owl asperger syndrome, susceptibility to|autism spectrum disorder without disorder of intellectual development and with mild or no impairment of functional language|ASPG ICD10:F84.5|OMIM:608781|MESH:D020817|SCTID:23560001|Orphanet:1162|DOID:0050432|EFO:0003757|NCIT:C97159|OMIM:300494|OMIM:609954|OMIM:608638|OMIMPS:608638|GARD:0005855|OMIM:300497|OMIM:608631 The name Aspergers is controversial, however, it seems to be the community accepted name. owl:Class NCBITaxon:2169991 biolink:NamedThing Argentinian mammarenavirus tmpaxzxjjyw_mondo_relaxed.owl Junin virus|Junn mammarenavirus|Junin mammarenavirus|Junin arenavirus GC_ID:1 NCBITaxon:11619 ncbi_taxonomy owl:Class NCBITaxon:1653394 biolink:NamedThing Mammarenavirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003165 biolink:NamedThing cerebellar astrocytoma Benign and malignant neoplasms of the cerebellum that arise from astrocytes. During childhood the majority are benign pilocytic astrocytomas. In adults both benign and relatively higher grade forms may occur. The most common presenting symptoms are headache, nausea, vomiting, ataxia of gait or limb, paresis, diplopia, and dizziness. Objective signs include weakness, long tract signs, dysmetria, gait ataxia, papilledema, and nystagmus. Surgical resection is often curative. tmpaxzxjjyw_mondo_relaxed.owl astrocytoma of cerebellum|cerebellar astrocytoma|astrocytoma of the cerebellum|cerebellum astrocytoma (excluding glioblastoma)|cerebellum astrocytoma|astrocytoma (excluding glioblastoma) of cerebellum|astrocytoma, cerebellar UMLS:C0740480|DOID:4848|NCIT:C9475 owl:Class MONDO:0002266 biolink:NamedThing malt worker's lung An extrinsic allergic alveolitis caused by infection with Aspergillus. tmpaxzxjjyw_mondo_relaxed.owl malt workers lung|Aspergillus extrinsic allergic alveolitis|alveolitis due to aspergillus clavatus|Malt workers' lung|Aspergillus caused extrinsic allergic alveolitis|Malt-workers' lung|malt worker lung ICD9:495.4|DOID:2314|ICD10:J67.4|SCTID:25897000|UMLS:C0155888 owl:Class MONDO:0004553 biolink:NamedThing extrinsic allergic alveolitis An inflammatory interstitial lung disease caused by hypersensitivity reaction to inhalation or ingestion of antigens. The antigens are usually related to the patient's occupation. It can present as an acute illness with flu-like symptoms, subacute with repeated episodes of pneumonia, or chronic with dyspnea and productive cough. The majority of patients recover following the cessation of the exposure to the antigen that causes the disease. Chronic exposure may eventually progress to interstitial lung fibrosis. tmpaxzxjjyw_mondo_relaxed.owl allergic pneumonitis|extrinsic allergic alveolitis|allergic form of pneumonitis|hypersensitivity pneumonitis|alveolitis ICD9:495.9|NCIT:C34369|DOID:841|ICD10:J67.9|MESH:D000542|ICD9:495 owl:Class MONDO:0021404 biolink:NamedThing polyp of sphenoidal sinus A polyp that involves the sphenoidal sinus. tmpaxzxjjyw_mondo_relaxed.owl polyp of the sphenoid sinus|polyp of the sphenoidal sinus|sphenoidal sinus polyp|polyp of sphenoid sinus|sphenoid sinus polyp ICD9:471.8|NCIT:C3933|UMLS:C0264255|SCTID:90685008 owl:Class HGNC:11727 biolink:NamedThing TERC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007203 biolink:NamedThing blue rubber bleb nevus Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia. tmpaxzxjjyw_mondo_relaxed.owl BRBNS|blue rubber bleb nevus syndrome|BRBN|bean syndrome|blue rubber bleb nevus MESH:C536240|OMIM:112200|GARD:0005940|UMLS:C0346072|SCTID:254784002|Orphanet:1059|ICD10:Q27.8|NCIT:C4486 owl:Class MONDO:0014974 biolink:NamedThing sudden cardiac failure, alcohol-induced tmpaxzxjjyw_mondo_relaxed.owl sudden Cardiac failure, alcohol-induced|sudden cardiac failure, alcohol-induced; SCFAI|SCFAI UMLS:C4310663|OMIM:617223 owl:Class ECTO:0001571 biolink:NamedThing exposure to mercury An exposure to mercury molecular entity. tmpaxzxjjyw_mondo_relaxed.owl exposure to mercury molecular entity owl:Class ECTO:0000481 biolink:NamedThing exposure to transition element An exposure to transition element molecular entity. tmpaxzxjjyw_mondo_relaxed.owl exposure to transition element molecular entity owl:Class CL:1000979 biolink:NamedThing ureter smooth muscle cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001118 cell owl:Class MONDO:0013961 biolink:NamedThing hypogonadotropic hypogonadism 16 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SEMA3A gene. tmpaxzxjjyw_mondo_relaxed.owl HH16|hypogonadotropic hypogonadism 16 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in SEMA3A|SEMA3A hypogonadotropic hypogonadism OMIM:614897|UMLS:C3554021|ICD10:E23.0|DOID:0090080 owl:Class MONDO:0024479 biolink:NamedThing epithelial tumor of colon A epithelial neoplasm that involves the colon. tmpaxzxjjyw_mondo_relaxed.owl colon epithelial neoplasm owl:Class MONDO:0005401 biolink:NamedThing colonic neoplasm A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpaxzxjjyw_mondo_relaxed.owl colonic neoplasm|tumor of the colon|neoplasm of colon|colon neoplasm (disease)|colon neoplasm|colonic tumor|colon tumor|neoplasm of the colon|tumor of colon NCIT:C9242|NCIT:C2953|UMLS:C0009375|MESH:D003110|EFO:0004288 owl:Class UBERON:0003833 biolink:NamedThing abdominal segment muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0045022 biolink:NamedThing disorder of organic acid metabolism A disease that has its basis in the disruption of organic acid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of organic acid metabolism|organic acid metabolic process disease|organic acid metabolism disorder|disorder of organic acid metabolic process SCTID:116021002|ICD9:277.89 owl:Class MONDO:0007511 biolink:NamedThing ectodermal dysplasia, trichoodontoonychial type Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996. tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia trichoodontoonychial type|ectodermal dysplasia, trichoodontoonychial type ICD10:Q82.4|Orphanet:1818|SCTID:734018003|OMIM:129510|UMLS:C1851858|GARD:0002055|MESH:C565068 https://rarediseases.info.nih.gov/diseases/2055/ectodermal-dysplasia-trichoodontoonychial-type owl:Class UBERON:0004810 biolink:NamedThing nephron tubule epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004211 biolink:NamedThing nephron epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003312 biolink:NamedThing mesenchyme of testis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003661 biolink:NamedThing breast lymphoma A lymphoma that arises from the breast. There is no history of extramammary breast lymphoma and ipsilateral axillary lymph node involvement does not exclude the diagnosis of primary breast lymphoma. Most patients present with a painless breast lump. The vast majority of cases are B-cell non-Hodgkin lymphomas. Diffuse large B-cell lymphoma, follicular lymphoma, and extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue are the most common types of primary non-Hodgkin lymphoma of the breast. Primary Hodgkin lymphoma of the breast is rare. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of breast|primary breast lymphoma|malignant lymphoma of breast|lymphoma of the breast|breast lymphoma DOID:5826|SCTID:278052009|UMLS:C0349669|NCIT:C4671|UMLS:C1704251 owl:Class MONDO:0005404 biolink:NamedThing myalgic encephalomeyelitis/chronic fatigue syndrome A medical condition characterized by long-term fatigue and other symptoms that limit a person's ability to carry out ordinary daily activities. tmpaxzxjjyw_mondo_relaxed.owl CFS|chronic fatigue syndrome|systemic exertion intolerance disease|myalgic encephalomyelitis|chronic fatigue immune dysfunction syndrome|myalgic encephalitis|Postviral fatigue syndrome DOID:8544|ICD9:780.79|ICD10:G93.3|EFO:0004540|SCTID:51771007|ICD10:R53.82|NCIT:C3037|UMLS:C0015674|ICD9:780.71|Orphanet:1983|MESH:D015673 owl:Class MONDO:0004032 biolink:NamedThing ovarian seromucinous carcinoma A malignant mixed epithelial neoplasm that arises from the ovary and is composed predominantly of serous and endocervical-type mucinous epithelium. tmpaxzxjjyw_mondo_relaxed.owl malignant ovarian mixed epithelial neoplasm|malignant ovarian mixed epithelial tumor|ovarian mixed epithelial carcinoma|ovarian Seromucinous carcinoma|mixed epithelial carcinoma of the ovary|mixed epithelial carcinoma of ovary DOID:6899|ONCOTREE:OSMCA|NCIT:C40090|UMLS:C1518232|EFO:1000358 owl:Class MONDO:0018364 biolink:NamedThing malignant epithelial tumor of ovary An invasive malignant tumor that originates from the surface epithelium of the ovary. It is composed of malignant epithelial cells and stroma. Representative examples include serous adenocarcinoma, mucinous adenocarcinoma, endometrioid adenocarcinoma, clear cell adenocarcinoma, and malignant Brenner tumor. tmpaxzxjjyw_mondo_relaxed.owl ovarian stromal cancer|ovarian malignant epithelial tumor|malignant ovarian surface epithelial-stromal neoplasm|ovarian epithelial tumor, malignant|epithelial cancer of ovary|malignant ovarian epithelial tumor|ovarian epithelial cancer|malignant ovarian surface epithelial-stromal tumor DOID:2151|MESH:C538090|NCIT:C40026|GARD:0009362|Orphanet:398934|SCTID:254849005 Editor note: check inference with carcinoma owl:Class HP:0003577 biolink:NamedThing Congenital onset A phenotypic abnormality that is present at birth. tmpaxzxjjyw_mondo_relaxed.owl Symptoms present at birth|Onset in utero|Prenatal onset|Onset at birth|Intrauterine onset UMLS:C2752013|UMLS:C1836142 Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. This term should be used for phenotypic abnormalities or diseases initially observed at the time of birth. For abnormalities observed prior to (e.g., by fetal ultrasound), use the term Antenatal onset (HP:0030674). HP:0003595|HP:0003666|HP:0003660|HP:0003601|HP:0003624 human_phenotype owl:Class MONDO:0000480 biolink:NamedThing anismus A focal dystonia of the pelvic floor muscles during attempted defecation. tmpaxzxjjyw_mondo_relaxed.owl focal dystonia of anal region skeletal muscle|anal region skeletal muscle focal dystonia|dyssynergic defecation|rectosphincteric dyssynergia|sphincteric disobedience syndrome|puborectalis syndrome|spastic pelvic floor syndrome|dyskinetic puborectalis SCTID:83605009|DOID:0050839|UMLS:C0267601|ICD9:569.49 owl:Class MONDO:0000477 biolink:NamedThing focal dystonia A dystonia that is localized to a specific part of the body. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0743332|SCTID:445006008|DOID:0050836 owl:Class MONDO:0013000 biolink:NamedThing porphyria due to ALA dehydratase deficiency Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations. tmpaxzxjjyw_mondo_relaxed.owl Lead poisoning, susceptibility to|porphyria, acute hepatic|porphyria, ALAD|Delta-aminolevulinate dehydratase deficiency|Doss porphyria|porphobilinogen synthase deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphyria due to ALA dehydratase deficiency|porphyria of Doss|aminolevulinate dehydratase deficiency porphyria|5-aminolevulinic acid dehydratase deficiency porphyria|ALAD deficiency|ALA dehydratase deficiency pophyria|ALAD porphyria|acute hepatic porphyria|porphyria due to ALAD deficiency OMIM:612740|MESH:C562618|ICD10:E80.2|GARD:0004445|Orphanet:100924|NCIT:C133887 https://rarediseases.info.nih.gov/diseases/4445/aminolevulinate-dehydratase-deficiency-porphyria owl:Class MONDO:0018891 biolink:NamedThing familial tumoral calcinosis Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis. tmpaxzxjjyw_mondo_relaxed.owl OMIM:211900|Orphanet:53715|ICD10:M11.2|GARD:0010877|OMIM:610455|MedDRA:10059364 https://rarediseases.info.nih.gov/diseases/10877/familial-tumoral-calcinosis owl:Class MONDO:0002082 biolink:NamedThing endocrine gland neoplasm A benign or malignant neoplasm arising from the epithelial cells of an endocrine organ. Representative examples include pituitary gland adenoma, pituitary gland carcinoma, thyroid gland carcinoma, carcinoid tumor, and neuroendocrine carcinoma. tmpaxzxjjyw_mondo_relaxed.owl endocrine system neoplasm|endocrine tumor|neoplasm of endocrine gland|endocrine gland tumor|endocrine system tumor|endocrine gland neoplasm (disease)|malignant endocrine tumor|tumor of endocrine gland|endocrine neoplasm EFO:0003769|SCTID:387922007|NCIT:C3010|ICD9:239.7 owl:Class MONDO:0018679 biolink:NamedThing primary cutaneous plasmacytosis tmpaxzxjjyw_mondo_relaxed.owl ICD10:L98.6|Orphanet:451602 owl:Class NCBITaxon:5579 biolink:NamedThing Aureobasidium tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1570301 biolink:NamedThing Saccotheciaceae tmpaxzxjjyw_mondo_relaxed.owl Saccotheciei|Aureobasidiaceae GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019188 biolink:NamedThing Rubinstein-Taybi syndrome A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics. tmpaxzxjjyw_mondo_relaxed.owl proximal chromosome 16p13.3 deletion syndrome|Broad thumbs-halluces syndrome|RSTS|Rubinstein syndrome|Broad thumb-hallux syndrome DOID:1933|NCIT:C75466|MedDRA:10039281|UMLS:C0035934|OMIM:180849|SCTID:45582004|GARD:0007593|ICD9:759.89|OMIMPS:180849|OMIM:610543|OMIM:613684|ICD10:Q87.2|Orphanet:783|MESH:D012415 owl:Class MONDO:0006636 biolink:NamedThing Actinobacillus infectious disease Infections with bacteria of the genus actinobacillus. tmpaxzxjjyw_mondo_relaxed.owl Actinobacillus infection|infection, Actinobacillus|Actinobacillus caused disease or disorder|Actinobacillus disease or disorder|infections, Actinobacillus MESH:D000189|EFO:1000793 owl:Class MONDO:0017036 biolink:NamedThing Langerhans cell histiocytosis in childhood and adulthood tmpaxzxjjyw_mondo_relaxed.owl histiocytosis X in childhood and adulthood|Langerhans cell granulomatosis in childhood and adulthood Orphanet:264955 Editor note: check semantics owl:Class MONDO:0017035 biolink:NamedThing secondary interstitial lung disease in childhood and adulthood associated with a systemic disease tmpaxzxjjyw_mondo_relaxed.owl secondary ILD in childhood and adulthood associated with a systemic disease 2022-03-01 Orphanet:264949|UMLS:CN202347 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0009667 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. tmpaxzxjjyw_mondo_relaxed.owl MDDGA3|muscle-eye-brain-POMGNT1 related|Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3 NCIT:C126740|Orphanet:899|DOID:0111236|Orphanet:588|OMIM:253280|UMLS:C3151519 owl:Class MONDO:0100096 biolink:NamedThing COVID-19 A disease caused by infection with severe acute respiratory syndrome coronavirus 2. tmpaxzxjjyw_mondo_relaxed.owl severe acute respiratory syndrome coronavirus 2 infectious disease|betacoronavirus|beta-CoV|SARS-coronavirus 2|β-CoVs|2019 novel coronavirus|2019 novel coronavirus infection|β-CoV|coronavirus disease 2019|β-coronavirus|2019-nCoV|SARS-CoV-2|beta-CoVs|2019-nCoV infection|severe acute respiratory syndrome coronavirus 2 ICD10:U07.2|MESH:D000086382|DOID:0080600|ICD11:RA01.0|ICD10:U07.1|SCTID:840539006|ICD11:RA01.2|MESH:C000657245 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100318 biolink:NamedThing SARS-CoV-2-related disease A viral disease or post-viral disorder caused by infection with severe acute respiratory syndrome coronavirus 2 or the associated aftereffects of the disease. tmpaxzxjjyw_mondo_relaxed.owl COVID-19-related disease http://orcid.org/0000-0001-5208-3432 owl:Class CL:0000646 biolink:NamedThing basal cell Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament. tmpaxzxjjyw_mondo_relaxed.owl FMA:62516|BTO:0000939 cell owl:Class CL:0000036 biolink:NamedThing epithelial fate stem cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0002658 biolink:NamedThing iris cancer A malignant neoplasm involving the iris. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of iris|malignant tumor of iris|malignant iris neoplasm|tumor of the iris|malignant neoplasm of the iris|malignant tumor of the iris|iris cancer|cancer of iris|malignant iris tumor UMLS:C0346372|SCTID:188264002|UMLS:C0022079|EFO:1000996|DOID:3478|NCIT:C3142|NCIT:C4554 owl:Class MONDO:0002659 biolink:NamedThing uveal cancer A primary or metastatic malignant neoplasm that affects the choroid, ciliary body, or iris. tmpaxzxjjyw_mondo_relaxed.owl malignant uvea tumor|uvea cancer|malignant neoplasm of uvea|malignant uvea neoplasm|malignant uveal neoplasm|uveal tumor|malignant tumor of uvea|malignant uveal tumor|malignant neoplasm of the uvea|malignant tumor of the uvea|cancer of uvea NCIT:C3436|UMLS:C0042162|EFO:1001230|UMLS:C1334629|DOID:3479|NCIT:C6105 owl:Class MONDO:0014497 biolink:NamedThing polyendocrine-polyneuropathy syndrome tmpaxzxjjyw_mondo_relaxed.owl polyendocrine-polyneuropathy syndrome|PEPNS UMLS:C4015261|Orphanet:453533|OMIM:616113 owl:Class MONDO:0015778 biolink:NamedThing syndromic hypothyroidism A hypothyroidism that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic hypothyroidism|syndrome associated with hypothyroidism Orphanet:177107|UMLS:CN226739 owl:Class MONDO:0006158 biolink:NamedThing colorectal diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that arises from the colon or rectum. tmpaxzxjjyw_mondo_relaxed.owl colorectal diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of colorectum|colorectum diffuse large B-cell lymphoma|colorectal DLBCL NCIT:C96503|UMLS:C3272827|EFO:1000191 owl:Class MONDO:0007836 biolink:NamedThing IVIC syndrome IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. tmpaxzxjjyw_mondo_relaxed.owl OORS|radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia|oculootoradial syndrome|Instituto venezolano de Investigaciones Cientificas syndrome|oculo-oto-radial syndrome|IVIC syndrome SCTID:722019000|MESH:C535544|OMIM:147750|ICD10:Q71.8|GARD:0000269|UMLS:C1327918|DOID:0111381|Orphanet:2307 https://rarediseases.info.nih.gov/diseases/269/ivic-syndrome owl:Class MONDO:0017732 biolink:NamedThing alpha-mannosidosis, infantile form tmpaxzxjjyw_mondo_relaxed.owl lysosomal alpha-D-mannosidase deficiency, infantile form Orphanet:309282|ICD10:E77.1 owl:Class MONDO:0009561 biolink:NamedThing alpha-mannosidosis Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl mannosidosis, alpha B lysosomal|mannosidosis, ALPHA B, lysosomal|Alpha mannosidase B deficiency|lysosomal Alpha-D-mannosidase deficiency|lysosomal alpha-D-mannosidase deficiency|alpha-mannosidosis|Alpha-D-mannosidosis|deficiency of alpha-mannosidase|Alpha-mannosidase B deficiency|alpha-mannosidase deficiency|MANSA UMLS:C0024748|Orphanet:61|ICD9:271.8|ICD10:E77.1|GARD:0006968|DOID:3413|SCTID:65524005|OMIM:248500|NCIT:C84548|MESH:D008363 https://rarediseases.info.nih.gov/diseases/6968/alpha-mannosidosis owl:Class UBERON:0007779 biolink:NamedThing transudate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006314 biolink:NamedThing bodily fluid Liquid components of living organisms. includes fluids that are excreted or secreted from the body as well as body water that normally is not. tmpaxzxjjyw_mondo_relaxed.owl body fluid|fluid owl:Class GO:0098871 biolink:NamedThing postsynaptic actin cytoskeleton The actin cytoskeleton that is part of a postsynapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015629 biolink:NamedThing actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0008207 biolink:NamedThing Primary adrenal insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. tmpaxzxjjyw_mondo_relaxed.owl Addison disease|Adrenocortical insufficiency|Addison's disease|Primary adrenocortical failure SNOMEDCT_US:363732003|SNOMEDCT_US:373662000|MSH:D000224|SNOMEDCT_US:386584007|UMLS:C0405580|UMLS:C0001403 Deficiency of both glucocorticoids and mineralocorticoids. HP:0000862|HP:0008219|HP:0008252 human_phenotype owl:Class HP:0000846 biolink:NamedThing Adrenal insufficiency Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. tmpaxzxjjyw_mondo_relaxed.owl Hypoadrenalism SNOMEDCT_US:237785004|SNOMEDCT_US:111563005|MSH:D000309|UMLS:C0001623|SNOMEDCT_US:386584007 Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. HP:0000865|HP:0008218 human_phenotype owl:Class UBERON:0008435 biolink:NamedThing vertebral arch of sacral segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003828 biolink:NamedThing abdominal segment bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043504 biolink:NamedThing mitochondrial DNA repair The process of restoring mitochondrial DNA after damage. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006281 biolink:NamedThing DNA repair The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012125 biolink:NamedThing hypomyelinating leukodystrophy 2 Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene. tmpaxzxjjyw_mondo_relaxed.owl GJC2 leukodystrophy|hypomyelinating leukodystrophy type 2|leukodystrophy, hypomyelinating, type 2|leukodystrophy caused by mutation in GJC2|Pelizaeus-Merzbacher-like disease due to GJC2 mutation|Pelizaeus-Merzbacher-like disease 1|HLD2|Pelizaeus-Merzbacher-like disease, 1|leukodystrophy, hypomyelinating, 2|PMLD1 UMLS:C1837355|Orphanet:280282|MESH:C563855|DOID:0060787|ICD10:E75.2|Orphanet:280270|OMIM:608804 owl:Class MONDO:0013324 biolink:NamedThing lymphedema-posterior choanal atresia syndrome tmpaxzxjjyw_mondo_relaxed.owl choanal atresia and lymphedema|CATLPH OMIM:613611|ICD10:Q82.0|UMLS:C3150875|Orphanet:99141 owl:Class MONDO:0016229 biolink:NamedThing genetic vascular anomaly An instance of vascular anomaly that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic vascular anomaly Orphanet:211240 owl:Class HGNC:7530 biolink:NamedThing MVK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018017 biolink:NamedThing goblet cell carcinoma Goblet cell carcinoma (GCC) is an aggressive type of endocrine tumor of the appendix presenting equally in males and females in the fifth decade of life and manifesting with a palpable mass and abdominal pain or acute appendicitis. Metastasis to the ovaries, peritoneum or right colon has usually already occurred in half of patients at the time of diagnosis. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of goblet cell|GCC|goblet cell adenocarcinoid|goblet cell carcinoid|goblet cell carcinoma|mucinous carcinoid|goblet cell tumor GARD:0010414|Orphanet:329984|ICD10:C18.1 owl:Class MONDO:0015066 biolink:NamedThing neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the appendix. tmpaxzxjjyw_mondo_relaxed.owl appendix well differentiated endocrine tumor|appendix well differentiated endocrine tumor/carcinoma|appendiceal neuroendocrine tumor|appendix NET|appendiceal neuroendocrine neoplasm|appendix neuroendocrine tumor|neuroendocrine neoplasm of appendix|well-differentiated neuroendocrine tumor of the appendix|appendiceal NEN|NEN of appendix SCTID:725167001|Orphanet:100079|ICD10:C18.1|NCIT:C96422|ONCOTREE:AWDNET|ICD10:D37.3 owl:Class UBERON:0013507 biolink:NamedThing thoracic vertebra cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005979 biolink:NamedThing regulation of glycogen biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen. tmpaxzxjjyw_mondo_relaxed.owl regulation of glycogen synthesis|regulation of glycogen biosynthesis|regulation of glycogen formation|regulation of glycogen anabolism owl:Class MONDO:0015787 biolink:NamedThing symptomatic form of hemophilia A in female carriers A form of hemophilia A that manifests in some women with mutations in the F8 gene (Xq28), encoding coagulation factor VIII. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200369|Orphanet:177926|ICD10:D66 owl:Class MONDO:0010602 biolink:NamedThing hemophilia A The most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency. tmpaxzxjjyw_mondo_relaxed.owl hem A|hemophilia A, congenital|hemophilia A|Subhemophilia|factor VIII deficiency|hemophilia type A|hemophilia type a|Haemophilia A|factor 8 deficiency|hereditary Factor VIII deficiency|hemophilia, classic|hereditary Factor VIII deficiency disease|classic hemophilia|classical hemophilia|autosomal hemophilia a|congenital factor VIII disorder|HEMA OMIM:134500|ICD10:D66|UMLS:C0019069|ICD9:286.0|UMLS:CN239112|SCTID:234440005|NCIT:C27146|Orphanet:98878|DOID:12134|EFO:0007267|OMIM:306700|MESH:D006467|GARD:0006591|MedDRA:10016080 owl:Class MONDO:0013877 biolink:NamedThing mitochondrial pyruvate carrier deficiency An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation. tmpaxzxjjyw_mondo_relaxed.owl MPYCD|mitochondrial pyruvate carrier deficiency Orphanet:447784|OMIM:614741|ICD10:E74.4|DOID:0080363|UMLS:C3553607 owl:Class MONDO:0016789 biolink:NamedThing pyruvate metabolism disorder An acquired metabolic disease that is has its basis in the disruption of pyruvate metabolic process. tmpaxzxjjyw_mondo_relaxed.owl inborn error of pyruvate metabolic process|inborn pyruvate metabolic process disorder|rare inborn error of pyruvate metabolic process UMLS:CN226999|ICD10:E74.4|Orphanet:254746 owl:Class HP:0033353 biolink:NamedThing Abnormal blood vessel morphology Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). tmpaxzxjjyw_mondo_relaxed.owl 2020-12-01 11:42:14+00:00 peter human_phenotype owl:Class GO:0031944 biolink:NamedThing negative regulation of glucocorticoid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. tmpaxzxjjyw_mondo_relaxed.owl down regulation of glucocorticoid metabolic process|down-regulation of glucocorticoid metabolic process|negative regulation of glucocorticoid metabolism|downregulation of glucocorticoid metabolic process|inhibition of glucocorticoid metabolic process owl:Class GO:0043588 biolink:NamedThing skin development The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue. tmpaxzxjjyw_mondo_relaxed.owl animal skin development owl:Class MONDO:0001151 biolink:NamedThing benign essential hypertension A condition of mild to moderate high blood pressure that has no identifiable cause. tmpaxzxjjyw_mondo_relaxed.owl benign essential hypertension NCIT:C3656|SCTID:1201005|ICD9:401.1|UMLS:C0155583|DOID:10913 owl:Class MONDO:0001134 biolink:NamedThing essential hypertension Hypertension that presents without an identifiable cause. tmpaxzxjjyw_mondo_relaxed.owl primary hypertension|idiopathic hypertension OMIM:604329|Orphanet:243761|OMIM:610262|OMIM:610261|MESH:C562386|NCIT:C3478|ICD10:I10|OMIM:611014|EFO:1002032|ICD9:401.9|SCTID:59621000|DOID:10825|OMIM:145500|OMIM:607329|OMIM:610948|ICD9:401|UMLS:C0085580|OMIM:603918|OMIM:608742 owl:Class MONDO:0002581 biolink:NamedThing spindle cell rhabdomyosarcoma An uncommon variant of rhabdomyosarcoma characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. tmpaxzxjjyw_mondo_relaxed.owl spindle cell rhabdomyosarcoma (morphologic abnormality)|SCRMS UMLS:C1266134|ICDO:8912/3|ICD9:171.9|NCIT:C6519|DOID:3260|ONCOTREE:SCRMS|SCTID:404055006 owl:Class MONDO:0002927 biolink:NamedThing spindle cell sarcoma A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas. tmpaxzxjjyw_mondo_relaxed.owl spindle cell sarcoma NCIT:C27005|DOID:4235|UMLS:C0205945|MESH:D012509|ICDO:8801/3 owl:Class MONDO:0004775 biolink:NamedThing lens-induced iridocyclitis tmpaxzxjjyw_mondo_relaxed.owl lens-induced iridocyclitis ICD10:H20.2|ICD9:364.23|SCTID:70461003|DOID:9388|UMLS:C0339320 owl:Class MONDO:0004773 biolink:NamedThing iridocyclitis An inflammation of the iris and the ciliary body tmpaxzxjjyw_mondo_relaxed.owl primary iridocyclitis|iridocyclitis (disease)|iridocyclitis iridocyclitis (disease) ICD9:364.2|ICD10:H20.01|NCIT:C34736|ICD9:364.01|UMLS:C0022073|HP:0001094|SCTID:77971008|DOID:9383|ICD9:364.3 owl:Class HP:0000002 biolink:NamedThing Abnormality of body height Deviation from the norm of height with respect to that which is expected according to age and gender norms. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of body height UMLS:C4025901 peter 2008-02-27T02:20:00Z human_phenotype owl:Class HP:0001507 biolink:NamedThing Growth abnormality tmpaxzxjjyw_mondo_relaxed.owl Abnormal growth|Growth abnormality|Growth issue UMLS:C0262361 HP:0008904 human_phenotype owl:Class UBERON:8410020 biolink:NamedThing venule of appendix tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020768 biolink:NamedThing X-linked deafness tmpaxzxjjyw_mondo_relaxed.owl deafness, X-linked|deafness, X-linked, DFN|X-linked deafness|DFNX GARD:0001715|OMIMPS:304500 Note that this encompasses both syndromic and non-syndromic types. owl:Class MONDO:0001231 biolink:NamedThing orbital periostitis tmpaxzxjjyw_mondo_relaxed.owl ICD10:H05.03|ICD9:376.02|UMLS:C0155257|SCTID:65974003|DOID:11231 owl:Class MONDO:0001230 biolink:NamedThing acute orbital inflammation tmpaxzxjjyw_mondo_relaxed.owl acute inflammation of orbit ICD10:H05.00|SCTID:20551005|ICD9:376.00|DOID:11230|ICD9:376.0|ICD10:H05.0 owl:Class UBERON:0002722 biolink:NamedThing trochlear nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9386 biolink:NamedThing PRKAG2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:50336 biolink:NamedThing 4-hydroxybenzyl group tmpaxzxjjyw_mondo_relaxed.owl tyrosine side-chain|4-hydroxybenzyl owl:Class CHEBI:50325 biolink:NamedThing proteinogenic amino-acid side-chain group A univalent organyl group obtained by cleaving the bond from C-2 to the side chain of a proteinogenic amino-acid. tmpaxzxjjyw_mondo_relaxed.owl proteinogenic amino-acid side-chain groups|proteinogenic amino-acid side-chains|proteinogenic amino-acid side-chain|canonical amino-acid side-chains|canonical amino-acid side-chain owl:Class MONDO:0011640 biolink:NamedThing genitopatellar syndrome Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency. tmpaxzxjjyw_mondo_relaxed.owl absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and mental retardation|genitopatellar syndrome|GENITOPATELLAR syndrome|absent patellae, scrotal hypoplasia, renal anomalies, Facial Dysmorphism, and intellectual disability|GTPTS|absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome SCTID:702367005|GARD:0010994|ICD9:759.89|Orphanet:85201|OMIM:606170|MESH:C565255|ICD10:Q87.8|UMLS:C1853566 https://rarediseases.info.nih.gov/diseases/10994/genitopatellar-syndrome owl:Class MONDO:0019921 biolink:NamedThing paternal uniparental disomy of chromosome 6 Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia. tmpaxzxjjyw_mondo_relaxed.owl paternal uniparental disomy of chromosome type 6|UPD(6)pat Orphanet:96191|ICD10:Q99.8 owl:Class MONDO:0020057 biolink:NamedThing uniparental disomy of paternal origin tmpaxzxjjyw_mondo_relaxed.owl 2022-04-01 SCTID:726402006|ICD10:Q99.8|Orphanet:98154 Reason: grouping class. Term to consider: none owl:Class CL:0002032 biolink:NamedThing hematopoietic oligopotent progenitor cell A hematopoietic oligopotent progenitor cell that has the ability to differentiate into limited cell types but lacks lineage cell markers and self renewal capabilities. tmpaxzxjjyw_mondo_relaxed.owl This cell type is intended to be compatible with any vertebrate hematopoietic oligopotent progenitor cell. For mammalian hematopoietic oligopotent progenitor cells known to be lineage-negative, please use the term 'hematopoietic oligopotent progenitor cell' (CL_0001060). tmeehan 2010-01-06T03:43:27Z cell owl:Class CL:0000988 biolink:NamedThing hematopoietic cell A cell of a hematopoietic lineage. tmpaxzxjjyw_mondo_relaxed.owl haematopoietic cell|haemopoietic cell|hemopoietic cell CALOHA:TS-2017|BTO:0000574|FMA:83598|FMA:70366 cell owl:Class MONDO:0014165 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome 3 Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. tmpaxzxjjyw_mondo_relaxed.owl PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT|multiple congenital anomalies-hypotonia-seizures syndrome 3|multiple congenital anomalies-hypotonia-seizures syndrome type 3|intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome|congenital disorder of glycosylation due to PIGT deficiency|MCAHS type 3|PIGT-CDG|MCAHS3|glycosylphosphatidylinositol biosynthesis defect 7 Orphanet:369837|UMLS:C3809356|ICD10:Q87.8|OMIM:615398|DOID:0080140 owl:Class MONDO:0003463 biolink:NamedThing ovarian endometrioid adenofibroma A benign neoplasm of the ovary characterized by the presence of glandular structures with endometrial-type well-differentiated cells in a fibrotic stroma. tmpaxzxjjyw_mondo_relaxed.owl ovarian endometrioid adenofibroma ICDO:8380/0|DOID:5480|ICDO:8381/0|NCIT:C27287|UMLS:C2212024 owl:Class MONDO:0000646 biolink:NamedThing ovarian benign neoplasm A non-metastasizing neoplasm that arises from the ovary. Representative examples include serous cystadenoma, mucinous cystadenoma, clear cell adenofibroma, benign Brenner tumor, thecoma, and fibroma. tmpaxzxjjyw_mondo_relaxed.owl ovary benign neoplasm|benign ovarian tumor|benign ovarian neoplasm|benign tumor of ovary|benign neoplasm of ovary|benign neoplasm of the ovary|benign tumor of the ovary SCTID:92260003|DOID:0060112|EFO:1000116|NCIT:C2895 owl:Class GO:0009892 biolink:NamedThing negative regulation of metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of metabolic process|inhibition of metabolic process|negative regulation of organismal metabolism|negative regulation of metabolism|inhibition of organismal metabolic process|down regulation of metabolic process|negative regulation of multicellular organismal metabolic process|downregulation of metabolic process owl:Class GO:0019222 biolink:NamedThing regulation of metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. tmpaxzxjjyw_mondo_relaxed.owl regulation of multicellular organismal metabolic process|regulation of organismal metabolic process|regulation of metabolism owl:Class MONDO:0003677 biolink:NamedThing lateral myocardial infarction tmpaxzxjjyw_mondo_relaxed.owl DOID:5853 owl:Class MONDO:0005647 biolink:NamedThing anogenital human papillomavirus infection A sexually transmitted papillary growth caused by the human papillomavirus. It usually arises in the skin and mucous membranes of the perianal region and external genitalia. tmpaxzxjjyw_mondo_relaxed.owl condyloma acuminatum|genital wart virus infectious disease|anogenital Human papilloma Virus infection|anogenital venereal wart|genital Warts|venereal wart|anogenital Human papilloma Virus infectious disease|anogenital Human Papillomavirus infection|anogenital Warts ICD9:078.11|EFO:0007147|MESH:D003218|DOID:11168|ICD10:A63.0|NCIT:C4820|SCTID:266113007 owl:Class MONDO:0021682 biolink:NamedThing viral sexually transmitted disease Viral diseases which are potentially transmitted or propagated by sexual conduct. tmpaxzxjjyw_mondo_relaxed.owl viral sexually transmitted disease|venereal diseases, viral|disease, viral venereal|viral sexually Transmitted diseases|viral venereal diseases|venereal disease, viral|sexually Transmitted disease, viral|viral venereal disease|diseases, viral venereal UMLS:C0036918|MESH:D015229 owl:Class MONDO:0014561 biolink:NamedThing 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene. tmpaxzxjjyw_mondo_relaxed.owl 3-Methylglutaconic aciduria, type 7|MGA7|3-methylglutaconic aciduria caused by mutation in CLPB|3-methylglutaconic aciduria type 7|MEGCANN|MGCA7|3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome|CLPB 3-methylglutaconic aciduria|3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia|3-methylglutaconic aciduria type VII DOID:0110003|EFO:0009014|Orphanet:445038|UMLS:C4225393|ICD10:E71.1|OMIM:616271|SCTID:764860006 Present because it is in the OMIM series. owl:Class MONDO:0017359 biolink:NamedThing 3-methylglutaconic aciduria A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine. tmpaxzxjjyw_mondo_relaxed.owl SCTID:237950009|DOID:0060336|ICD10:E71.111|MESH:C579867|NCIT:C98678|OMIMPS:250950|ICD10:E71.1|Orphanet:289902|UMLS:C3696376 owl:Class MONDO:0014436 biolink:NamedThing Bardet-Biedl syndrome 8 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TTC8 gene. tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome caused by mutation in TTC8|Bardet-Biedl syndrome 8|BBS8|TTC8 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 8 ICD10:Q87.89|DOID:0110130|OMIM:209900|GARD:0010207|UMLS:C1859566|MESH:C565917|OMIM:615985 https://rarediseases.info.nih.gov/diseases/10207/bardet-biedl-syndrome-8 owl:Class MONDO:0016448 biolink:NamedThing pseudoxanthoma elasticum-like papillary dermal elastolysis Pseudoxanthoma elasticum-like papillary dermal elastolysis (PXE-PDE) is a rare, acquired, idiopathic dermal tissue disorder characterized by numerous, asymptomatic, 2-3 mm, yellowish, non-follicular papules that tend to converge into cobblestone-like plaques which are distributed symmetrically over the posterior neck, supraclavicular region, axillae, and sometimes abdomen. Unlike PXE, these skin lesions show select elimination (absence or marked loss) of elastic fibers in the papillary dermis and there is no systemic involvement. tmpaxzxjjyw_mondo_relaxed.owl PXE-like papillary dermal elastolysis|PXE-PDE SCTID:764105002|Orphanet:228293 owl:Class HGNC:5956 biolink:NamedThing IHH tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001205 biolink:NamedThing submucosa of small intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009566 biolink:NamedThing intestinal submucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:25585 biolink:NamedThing nonmetal atom tmpaxzxjjyw_mondo_relaxed.owl nonmetal|no metal|nonmetals|non-metal|no metales|non-metaux|Nichtmetalle|Nichtmetall owl:Class CHEBI:33250 biolink:NamedThing atom A chemical entity constituting the smallest component of an element having the chemical properties of the element. tmpaxzxjjyw_mondo_relaxed.owl atomo|elements|atomus|atom|atome|atoms|element owl:Class GO:0033604 biolink:NamedThing negative regulation of catecholamine secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a catecholamine. tmpaxzxjjyw_mondo_relaxed.owl downregulation of catecholamine secretion|down regulation of catecholamine secretion|inhibition of catecholamine secretion|down-regulation of catecholamine secretion owl:Class MONDO:0019370 biolink:NamedThing vulvovaginal gingival syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:83453|UMLS:CN206058|UMLS:C3873472|ICD10:L43.8|SCTID:707250009 owl:Class GO:0034219 biolink:NamedThing carbohydrate transmembrane transport The process in which a carbohydrate is transported across a membrane. tmpaxzxjjyw_mondo_relaxed.owl carbohydrate membrane transport|transmembrane carbohydrate transport owl:Class GO:0008643 biolink:NamedThing carbohydrate transport The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are a group of organic compounds based of the general formula Cx(H2O)y. tmpaxzxjjyw_mondo_relaxed.owl sugar transport owl:Class MONDO:0054550 biolink:NamedThing avascular necrosis of femoral head, primary, 1 tmpaxzxjjyw_mondo_relaxed.owl femoral head, aseptic necrosis of|Femoral head, avascular necrosis of|avascular necrosis of femoral head, primary, 1|ANFH1|ischemic necrosis of femoral head|osteonecrosis of femoral head OMIM:608805 owl:Class MONDO:0012126 biolink:NamedThing familial avascular necrosis of femoral head Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterised by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. tmpaxzxjjyw_mondo_relaxed.owl femoral head, aseptic Necrosis of|primary avascular necrosis of the femoral head|aseptic Necrosis of femoral head|aseptic Necrosis of head of femur|avascular Necrosis of femoral head, primary, 1|familial avascular necrosis of the femoral head|osteonecrosis of femoral head|avascular NECROSIS of femoral head, primary|ANFH|avascular NECROSIS of femoral head, primary, 1|familial osteonecrosis of the femoral head|femoral head, avascular Necrosis of|ischemic Necrosis of femoral head|ANFH1 SCTID:715657008|Orphanet:86820|MESH:D005271|UMLS:CN206226|GARD:0010914|ICD10:M87.8|NCIT:C35480|OMIMPS:608805 https://rarediseases.info.nih.gov/diseases/10914/familial-avascular-necrosis-of-the-femoral-head owl:Class GO:0043433 biolink:NamedThing negative regulation of DNA-binding transcription factor activity Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of transcription factor activity|down regulation of transcription factor activity|inhibition of transcription factor activity|negative regulation of androgen receptor activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of thyroid hormone receptor activity|down-regulation of transcription factor activity|downregulation of transcription factor activity|negative regulation of DNA binding transcription factor activity owl:Class GO:0051090 biolink:NamedThing regulation of DNA-binding transcription factor activity Any process that modulates the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. tmpaxzxjjyw_mondo_relaxed.owl regulation of thyroid hormone receptor activity|regulation of DNA binding transcription factor activity|regulation of sequence-specific DNA binding transcription factor activity|regulation of androgen receptor activity|regulation of transcription factor activity owl:Class GO:1901342 biolink:NamedThing regulation of vasculature development Any process that modulates the frequency, rate or extent of vasculature development. tmpaxzxjjyw_mondo_relaxed.owl regulation of vascular system development owl:Class GO:0090407 biolink:NamedThing organophosphate biosynthetic process The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016051 biolink:NamedThing cleft lip-retinopathy syndrome Cleft lip - retinopathy is an exceedingly rare association characterized by cleft lip and progressive retinopathy. tmpaxzxjjyw_mondo_relaxed.owl cleft lip-progressive retinopathy syndrome|Ausems Wittebol-Post Hennekam syndrome|cleft lip with progressive retinopathy|Ausems-Wittebol Post-Hennekam syndrome|cleft lip-cone rod dystrophy syndrome ICD10:Q87.8|UMLS:C2931789|Orphanet:1995|GARD:0000435|MESH:C538272 owl:Class MONDO:0030910 biolink:NamedThing intellectual disability, autosomal dominant 45 tmpaxzxjjyw_mondo_relaxed.owl MRD45|intellectual disability, autosomal dominant 45|autosomal dominant mental retardation 45|autosomal dominant intellectual disability 45|mental retardation, autosomal dominant 45 UMLS:CN368509|DOID:0080236|OMIM:617600 owl:Class MONDO:0015802 biolink:NamedThing autosomal dominant non-syndromic intellectual disability Autosomal dominant form of non-syndromic intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant non-syndromic mental retardation|non-syndromic intellectual disability, autosomal dominant|autosomal dominant mental retardation|autosomal dominant non-syndromic intellectual disability DOID:0060307|UMLS:CN200399|Orphanet:178469|GARD:0012107 Editor note: wrongly classified in ORDO, see https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 - check also Koolen-de vries https://rarediseases.info.nih.gov/diseases/12107/autosomal-dominant-non-syndromic-intellectual-disability owl:Class MONDO:0009982 biolink:NamedThing retinitis pigmentosa inversa with deafness tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa inversa with deafness MESH:C564842|OMIM:268010|UMLS:C1849405 owl:Class OBO:CHR_9606-chr4p1 biolink:NamedThing 4p1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 50000000 0 hg38 owl:Class MONDO:0020118 biolink:NamedThing dense granule disease tmpaxzxjjyw_mondo_relaxed.owl Delta granule disease UMLS:CN207010|ICD10:D69.1|Orphanet:98456 owl:Class MONDO:0014003 biolink:NamedThing developmental and epileptic encephalopathy, 15 tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 15|EIEE15|DEE15|epileptic encephalopathy, early infantile, 15 Orphanet:3451|OMIM:615006|UMLS:C3554316|DOID:0080414 owl:Class MONDO:0020291 biolink:NamedThing hypoplastic right heart syndrome Hypoplastic right-heart syndrome (HRHS) is a rare, cyanotic congenital heart malformation caused by underdevelopment of the right-sided heart structures (tricuspid valve, RV, pulmonary valve, and pulmonary artery) commonly associated with an atrial septal defect, ostium secundum type. Pulmonary blood flow is diminished and right-to-left shunting occurs at the atrial level, leading to dyspnea, fatigue, atrial arrhythmias, right-sided heart failure, hypoxemia, repeated miscarriages that were mostly due to hypoxemia and cyanosis. Two subtypes of HRHS have been characterized: pulmonary atresia-intact ventricular septum and right ventricular hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl right hypoplastic heart syndrome UMLS:C0344963|GARD:0002922|DOID:0070315|MedDRA:10050053|SCTID:268180007|ICD9:746.89|ICD10:Q22.6|NCIT:C99053|Orphanet:98723|MedDRA:10064962 https://rarediseases.info.nih.gov/diseases/2922/hypoplastic-right-heart-syndrome owl:Class GO:0006486 biolink:NamedThing protein glycosylation A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpaxzxjjyw_mondo_relaxed.owl protein-carbohydrate complex assembly|protein amino acid glycosylation owl:Class GO:0043413 biolink:NamedThing macromolecule glycosylation The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071944 biolink:NamedThing cell periphery The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0110165 biolink:NamedThing cellular anatomical entity A part of a cellular organism that is either an immaterial entity or a material entity with granularity above the level of a protein complex but below that of an anatomical system. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004037 biolink:NamedThing retinal edema tmpaxzxjjyw_mondo_relaxed.owl ICD9:362.83|MESH:D010211|ICD10:H35.81|DOID:6929|SCTID:6141006 owl:Class MONDO:0022598 biolink:NamedThing brachydactyly absence of distal phalanges tmpaxzxjjyw_mondo_relaxed.owl GARD:0000961 https://rarediseases.info.nih.gov/diseases/961/brachydactyly-absence-of-distal-phalanges owl:Class UBERON:0003082 biolink:NamedThing myotome tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0017650 biolink:NamedThing developing mesenchymal structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001795 biolink:NamedThing ecosystem process An environmental process either driven by or primarily impacting the parts or emergent properties of an ecosystem. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002912 biolink:NamedThing brainstem cancer A primary or metastatic malignant neoplasm that affects the brain stem. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the brainstem|malignant brainstem tumor|tumor of the brainstem|malignant tumor of the brainstem|neoplasm of adult brain stem|malignant brain stem tumor|primary brain stem neoplasm|cancer of brainstem|malignant neoplasm of the brain stem|malignant neoplasm of brain stem|malignant brainstem neoplasm|malignant tumor of the brain stem|brainstem cancer|malignant brain stem neoplasm|malignant tumor of brain stem|primary brain stem tumor|neoplasm of brain stem|malignant tumor of brainstem|brain stem cancer|malignant neoplasm of brainstem DOID:4203|MESH:D020295|NCIT:C3570|ICD9:191.7|SCTID:363473003|NCIT:C5967|NCIT:C4869|UMLS:C1332192|GARD:0008244|ICD10:C71.7 https://rarediseases.info.nih.gov/diseases/8244/brain-stem-cancer owl:Class MONDO:0010018 biolink:NamedThing second metatarsal-metacarpal syndrome tmpaxzxjjyw_mondo_relaxed.owl second metatarsal-metacarpal syndrome MESH:C564824|OMIM:269630|UMLS:C1849259 owl:Class MONDO:0004517 biolink:NamedThing ureter tuberculosis A tuberculosis that involves the ureter. tmpaxzxjjyw_mondo_relaxed.owl ureter tuberculosis|tuberculosis of ureter DOID:827|UMLS:C0152800|ICD9:016.2|ICD9:016.20|SCTID:81359005 owl:Class MONDO:0018076 biolink:NamedThing tuberculosis A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. tmpaxzxjjyw_mondo_relaxed.owl active tuberculosis|tuberculosis disease|TB|Kochs disease ICD9:017.96|GARD:0007827|ICD10:A15.A19|Orphanet:3389|ICD9:017.94|DOID:399|MedDRA:10044755|MESH:D014376|UMLS:C0041296|NCIT:C3423|UMLS:C0151332|SCTID:56717001|ICD9:017.92|ICD9:017.90|OMIM:607948 https://rarediseases.info.nih.gov/diseases/7827/tuberculosis owl:Class MONDO:0007256 biolink:NamedThing hepatocellular carcinoma A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. tmpaxzxjjyw_mondo_relaxed.owl primary carcinoma of liver cells|hepatocellular cancer|adult primary hepatocellular carcinoma|primary carcinoma of the liver cells|carcinoma of the liver cells|liver and intrahepatic bile duct carcinoma|hepatoma|liver cell cancer (hepatocellular carcinoma)|hepatocellular adenocarcinoma|hepatocellular carcinoma|hepatoblastoma caused by somatic mutation|liver cell carcinoma|carcinoma of liver|liver cancer|hepatoblastoma|carcinoma, hepatocellular, malignant|HCC|liver carcinoma|cancer, hepatocellular|adult hepatoma|carcinoma of liver cells MedDRA:10049010|ICDO:8170/3|UMLS:C0279607|Orphanet:449|DOID:684|UMLS:C0206624|ICD10:C22.0|Orphanet:88673|NCIT:C7927|UMLS:C0345904|DOID:686|EFO:0000182|ONCOTREE:HCC|NCIT:C7956|MESH:D006528|NCIT:C3099|OMIM:114550 owl:Class MONDO:0018532 biolink:NamedThing adenocarcinoma of liver and intrahepatic biliary tract tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of liver and IBT|adenocarcinoma of the liver and IBT|adenocarcinoma of the liver and intrahepatic biliary tract Orphanet:424943|ICD10:C22.0|ICD10:C22.1|UMLS:CN242181 owl:Class OGMS:0000063 biolink:NamedThing disease course The totality of all processes through which a given disease instance is realized. tmpaxzxjjyw_mondo_relaxed.owl creation date: 2009-06-23T11:55:44Z http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf Albert Goldfain owl:Class BFO:0000015 biolink:NamedThing process p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003])|An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t.|p is a process = Def. p is an occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. (axiom label in BFO2 Reference: [083-003])|An occurrent that has temporal proper parts and for some time t, p s-depends_on some material entity at t. tmpaxzxjjyw_mondo_relaxed.owl Process process BFO 2 Reference: The realm of occurrents is less pervasively marked by the presence of natural units than is the case in the realm of independent continuants. Thus there is here no counterpart of ‘object’. In BFO 1.0 ‘process’ served as such a counterpart. In BFO 2.0 ‘process’ is, rather, the occurrent counterpart of ‘material entity’. Those natural – as contrasted with engineered, which here means: deliberately executed – units which do exist in the realm of occurrents are typically either parasitic on the existence of natural units on the continuant side, or they are fiat in nature. Thus we can count lives; we can count football games; we can count chemical reactions performed in experiments or in chemical manufacturing. We cannot count the processes taking place, for instance, in an episode of insect mating behavior.Even where natural units are identifiable, for example cycles in a cyclical process such as the beating of a heart or an organism’s sleep/wake cycle, the processes in question form a sequence with no discontinuities (temporal gaps) of the sort that we find for instance where billiard balls or zebrafish or planets are separated by clear spatial gaps. Lives of organisms are process units, but they too unfold in a continuous series from other, prior processes such as fertilization, and they unfold in turn in continuous series of post-life processes such as post-mortem decay. Clear examples of boundaries of processes are almost always of the fiat sort (midnight, a time of death as declared in an operating theater or on a death certificate, the initiation of a state of war) a process of sleeping|the life of an organism|the flight of a bird|a process of cell-division, \ a beating of the heart|your process of aging.|the course of a disease|a process of meiosis (iff (Process a) (and (Occurrent a) (exists (b) (properTemporalPartOf b a)) (exists (c t) (and (MaterialEntity c) (specificallyDependsOnAt a c t))))) // axiom label in BFO2 CLIF: [083-003] owl:Class UBERON:0005296 biolink:NamedThing ovary sex cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004911 biolink:NamedThing epithelium of female gonad tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015397 biolink:NamedThing oculo-auriculo-vertebral spectrum tmpaxzxjjyw_mondo_relaxed.owl Fav sequence|oculoauriculovertebral syndrome|facio-auriculo-vertebral spectrum|Expanded spectrum hemifacial microsomia|oculo-auriculo-vertebral dysplasia|OAV (oculoauriculovertebral) dysplasia|Goldenhar syndrome|Goldenhar disease|hemifacial microsomia|first and second branchial arch syndrome|facioauriculovertebral dysplasia|OAV spectrum|oculoauriculovertebral spectrum|first arch syndrome|HFM|oculoauriculovertebral dysplasia|unilateral or bilateral and asymmetric otomandibular dysplasia|OAV dysplasia|facioauriculovertebral sequence|OAVS|OAVD|Expanded spectrum of hemifacial microsomia GARD:0006540|OMIM:164210|MESH:D006053|NCIT:C84740|GARD:0012074|Orphanet:374|DOID:2907|UMLS:C0265240|ICD10:Q87.0|SCTID:109393007|SCTID:367462009|Orphanet:141132|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/12074/oculo-auriculo-vertebral-spectrum owl:Class MONDO:0015482 biolink:NamedThing otomandibular dysplasia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:155896 owl:Class MONDO:0004207 biolink:NamedThing pulmonary artery leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the pulmonary artery It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl pulmonary artery leiomyosarcoma|leiomyosarcoma of the pulmonary artery|leiomyosarcoma of pulmonary artery UMLS:C1335572|DOID:7389|NCIT:C5373 owl:Class MONDO:0016982 biolink:NamedThing angiosarcoma A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma. tmpaxzxjjyw_mondo_relaxed.owl angiosarcoma (disease)|malignant hemangioendothelioma|sarcoma of blood vessel|vascular sarcoma|hemangiosarcoma|angiosarcoma|hemangiosarcoma, malignant|malignant angioendothelioma|blood vessel sarcoma angiosarcoma (disease) EFO:0003967|ICDO:9120/3|ICD10:C49.9|DOID:0001816|MedDRA:10002476|NCIT:C3088|UMLS:C0018923|SCTID:403977003|HP:0200058|MESH:D006394|Orphanet:263413|ICD9:171.9|ONCOTREE:ANGS|EFO:0003968 owl:Class MONDO:0054805 biolink:NamedThing microcephaly 22, primary, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl MCPH22|microcephaly 22, PRIMARY, autosomal recessive OMIM:617984 owl:Class UBERON:0010045 biolink:NamedThing 1st arch maxillary mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018892 biolink:NamedThing Wyburn-Mason syndrome Wyburn-Mason syndrome or Bonnet-Dechaume-Blanc syndrome is characterized by the association of arteriovenous malformations of the maxilla, retina, optic nerve, thalamus, hypothalamus and cerebral cortex. tmpaxzxjjyw_mondo_relaxed.owl Wyburn Mason's syndrome|Cerebrofacial arteriovenous metameric syndrome type 2|arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes|Wyburn Mason syndrome|bonnet-Decaume-Blanc syndrome|CAMS2|bonnet-Dechaume-Blanc syndrome MESH:C536752|UMLS:C0265321|ICD10:Q28.2|SCTID:6729006|GARD:0007900|MedDRA:10048661|Orphanet:53719 owl:Class MONDO:0042983 biolink:NamedThing neurocutaneous syndrome A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs. tmpaxzxjjyw_mondo_relaxed.owl syndrome, neuroectodermal dysplasia|Phacomatoses|Phacomatosis|syndromes, neurocutaneous|syndrome, neurocutaneous|neuroectodermal dysplasia syndromes|phakomatosis|syndromes, neuroectodermal dysplasia|neuroectodermal dysplasia syndrome|neuroectodermal dysplasia|Phakomatoses|neurocutaneous disorder|neurocutaneous syndrome|neurocutaneous disorders MESH:D020752|SCTID:78572006|NCIT:C84348|UMLS:C0265316 A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category owl:Class GO:0060840 biolink:NamedThing artery development The progression of the artery over time, from its initial formation to the mature structure. An artery is a blood vessel that carries blood away from the heart to a capillary bed. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001568 biolink:NamedThing blood vessel development The process whose specific outcome is the progression of a blood vessel over time, from its formation to the mature structure. The blood vessel is the vasculature carrying blood. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015908 biolink:NamedThing chromomycosis Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa. tmpaxzxjjyw_mondo_relaxed.owl Chromoblastomycoses|mossy foot disease|Chromomycosis|chromoblastomycosis|dermatitis Verrucosa|Chromomycoses|chromomycosis EFO:0007207|ICD10:B43.1|UMLS:C0008582|MESH:D002862|ICD10:B43.0|UMLS:C3245522|ICD9:117.2|SCTID:187079000|GARD:0001319|ICD10:B43.9|Orphanet:182|DOID:1562|MedDRA:10008803|ICD10:B43.2|ICD10:B43.8 Editor note: check cutaneous vs subcutaneous owl:Class MONDO:0000255 biolink:NamedThing subcutaneous mycosis A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis. tmpaxzxjjyw_mondo_relaxed.owl subcutaneous mycosis DOID:0050135 owl:Class MONDO:0020089 biolink:NamedThing acquired lipodystrophy An instance of lipodystrophy (disease) that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired lipodystrophy (disease) MedDRA:10049287|UMLS:C0877192|Orphanet:98307|ICD10:E88.1 owl:Class MONDO:0022771 biolink:NamedThing circumscribed disseminated keratosis Jadassohn lew type tmpaxzxjjyw_mondo_relaxed.owl GARD:0001366 https://rarediseases.info.nih.gov/diseases/1366/circumscribed-disseminated-keratosis-jadassohn-lew-type owl:Class CHEBI:35296 biolink:NamedThing ortho-fused polycyclic arene tmpaxzxjjyw_mondo_relaxed.owl ortho-fused polycyclic arenes owl:Class CHEBI:35427 biolink:NamedThing ortho-fused polycyclic hydrocarbon tmpaxzxjjyw_mondo_relaxed.owl ortho-fused polycyclic hydrocarbon|ortho-fused polycyclic hydrocarbons owl:Class MONDO:0024711 biolink:NamedThing malignant mixed epithelial stromal tumor of the kidney A mixed epithelial stromal tumor of the kidney with malignant stromal features. tmpaxzxjjyw_mondo_relaxed.owl mixed epithelial stromal tumor of the kidney, malignant|malignant mixed epithelial stromal tumor of the kidney|malignant MEST NCIT:C37265|UMLS:C1334602 owl:Class MONDO:0005853 biolink:NamedThing malignant mixed neoplasm A malignant neoplasm composed of a carcinomatous epithelial component and a sarcomatous mesenchymal component. Representative examples include malignant mixed mesodermal (Mullerian) tumor of the female reproductive system and carcinosarcoma of the salivary gland and the lung. tmpaxzxjjyw_mondo_relaxed.owl malignant mixed tumors|tumor, mixed, malignant|mixed tumor|tumor, malignant mixed|mixed tumor, malignant (morphologic abnormality)|malignant mixed neoplasm|tumors, malignant mixed|mixed tumors, malignant|mixed cell type cancer|mixed tumor, malignant|mixed neoplasm, malignant|malignant mixed cancer|mixed tumor, malignant, NOS (morphologic abnormality)|mixed neoplasm|malignant mixed tumor DOID:154|EFO:0007373|EFO:1000356|UMLS:C0206625|MESH:D018198|NCIT:C3729|ICDO:8940/3 owl:Class UBERON:0009722 biolink:NamedThing entire pharyngeal arch endoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001311 biolink:NamedThing solid surface layer A surface layer which is composed primarily of solid environmental material. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001275 biolink:NamedThing solid layer A layer which is primarily composed of some solid material, allowing for non-solid parts such as interstitial pockets of gas or liquid. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006347 biolink:NamedThing pancreatic large cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells. tmpaxzxjjyw_mondo_relaxed.owl pancreatic large cell NEC G3|pancreas large cell neuroendocrine carcinoma|pancreatic large cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma of pancreas|pancreatic large cell NEC EFO:1000442|UMLS:C2987239|NCIT:C95582 owl:Class MONDO:0005893 biolink:NamedThing pancreatic endocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. The mitotic count is more than 20 per 10 HPF. According to the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm, it is classified either as small or large cell neuroendocrine carcinoma. tmpaxzxjjyw_mondo_relaxed.owl pancreatic neuroendocrine carcinoma|poorly-differentiated NEN of pancreas|malignant islet cell tumor|islet cell cancer|carcinoma, islet cell, malignant|neuroendocrine carcinoma of pancreas|carcinoma of endocrine pancreas|pancreatic NEC|pancreatic endocrine carcinoma|poorly-differentiated pancreatic NEN|high-grade pancreatic neuroendocrine carcinoma|islet cell carcinoma|pancreatic NEC G3|islet cell carcinoma (morphologic abnormality)|poorly-differentiated neuroendocrine neoplasm of pancreas|high grade pancreatic neuroendocrine carcinoma|poorly differentiated pancreatic endocrine carcinoma|pancreatic endocrine cancer|Pancreatic Neuroendocrine cancer|malignant pancreatic endocrine tumor|endocrine pancreas carcinoma|poorly-differentiated pancreatic neuroendocrine neoplasm|malignant neoplasm of islets of Langerhans UMLS:C1328479|ICD10:C25.4|Orphanet:506098|ICDO:8150/3|DOID:1798|MESH:D018273|NCIT:C3770|ICD9:157.4|EFO:0007416|SCTID:254612002 owl:Class MONDO:0010540 biolink:NamedThing bullous dystrophy, macular type Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family. tmpaxzxjjyw_mondo_relaxed.owl bullous dystrophy hereditary macular type|epidermolysis bullosa macular type|bullous dystrophy, hereditary macular type|epidermolysis bullosa, macular type|EBM ICD10:Q81.8|MESH:C563065|GARD:0001038|Orphanet:1867|OMIM:302000|UMLS:C0795974 https://rarediseases.info.nih.gov/diseases/1038/bullous-dystrophy-hereditary-macular-type owl:Class MONDO:0023230 biolink:NamedThing Ghose-Sachdev-Kumar syndrome tmpaxzxjjyw_mondo_relaxed.owl bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma GARD:0002467|UMLS:C2974016|MESH:C537803 https://rarediseases.info.nih.gov/diseases/2467/ghose-sachdev-kumar-syndrome owl:Class MONDO:0016815 biolink:NamedThing Leigh syndrome with leukodystrophy tmpaxzxjjyw_mondo_relaxed.owl Leigh disease with leukodystrophy|infantile subacute necrotizing encephalopathy with leukodystrophy UMLS:CN202083|OMIM:616277|ICD10:G31.8|Orphanet:255241|OMIM:256000 owl:Class MONDO:0009723 biolink:NamedThing Leigh syndrome A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. tmpaxzxjjyw_mondo_relaxed.owl Leigh syndrome due to mitochondrial Complex 1 deficiency|Leigh syndrome due to mitochondrial Complex 5 deficiency|infantile necrotizing encephalomyelopathy|Leigh's necrotizing encephalopathy|subacute necrotizing encephalopathy|subacute necrotizing encephalomyelopathy|infantile subacute necrotizing encephalopathy|Leigh syndrome due to mitochondrial Complex 4 deficiency|juvenile subacute necrotizing encephalomyelopathy|Leigh syndrome due to mitochondrial Complex 3 deficiency|Leigh's disease|Leigh syndrome|LS|SNE|Leigh disease|necrotizing encephalopathy, infantile Subacute, of Leigh|Leigh syndrome due to mitochondrial Complex 2 deficiency OMIM:256000|SCTID:29570005|NCIT:C84814|GARD:0006877|MESH:D007888|OMIM:220111|UMLS:C0023264|ICD10:G31.8|Orphanet:255210|ICD9:330.8|MedDRA:10062950|ICD10:G31.82|DOID:3652|Orphanet:506 owl:Class MONDO:0032914 biolink:NamedThing ciliary dyskinesia, primary, 44 tmpaxzxjjyw_mondo_relaxed.owl CILIARY DYSKINESIA, PRIMARY, 44|CILD44|Ciliary Dyskinesia, Primary, 44, Without Situs Inversus OMIM:618781 owl:Class MONDO:0006398 biolink:NamedThing retroperitoneal inflammatory myofibroblastic tumor A multinodular intermediate fibroblastic neoplasm arising from the retroperitoneum. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. tmpaxzxjjyw_mondo_relaxed.owl retroperitoneal space inflammatory myofibroblastic tumor|retroperitoneal inflammatory myofibroblastic tumor EFO:1000510|UMLS:C1514921|NCIT:C39741 owl:Class MONDO:0015798 biolink:NamedThing inflammatory myofibroblastic tumor A multinodular intermediate fibroblastic neoplasm that arises from soft tissue or viscera, in children and young adults. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes, and plasma cells. tmpaxzxjjyw_mondo_relaxed.owl inflammatory myofibroblastic tumor|inflammatory pseudotumor|inflammatory myofibroblastic neoplasm|inflammatory fibrosarcoma|IMT DOID:0050905|Orphanet:178342|MESH:D006104|ONCOTREE:IMT|UMLS:C0334121|GARD:0007146|NCIT:C6481|MedDRA:10067917|ICDO:8825/1 https://rarediseases.info.nih.gov/diseases/7146/inflammatory-myofibroblastic-tumor owl:Class GO:0009891 biolink:NamedThing positive regulation of biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of biosynthetic process|positive regulation of anabolism|positive regulation of formation|positive regulation of biosynthesis|activation of biosynthetic process|upregulation of biosynthetic process|positive regulation of synthesis|stimulation of biosynthetic process|up regulation of biosynthetic process owl:Class MONDO:0003238 biolink:NamedThing cervical adenomyoma A rare, benign, usually polypoid neoplasm that arises from the cervix. It is characterized by the presence of a glandular component and a smooth muscle cell component. Variants include the endocervical type, endometrial type, and atypical polypoid adenomyoma. tmpaxzxjjyw_mondo_relaxed.owl cervical adenomyoma UMLS:C1516404|DOID:4995|NCIT:C40231 owl:Class MONDO:0005635 biolink:NamedThing adenomyoma A benign neoplasm characterized by the presence of a glandular and a mesenchymal (fibromyomatous) component. It occurs in the uterine corpus and the cervix. A variant of adenomyoma associated with glandular architectural complexity is called atypical polypoid adenomyoma. Simple polypectomy is usually curative. Atypical polypoid adenomyoma may recur following polypectomy. tmpaxzxjjyw_mondo_relaxed.owl adenomyoma (morphologic abnormality)|adenomyoma, benign|adenomyoma NCIT:C3726|DOID:2609|ICDO:8932/0|MESH:D018194|UMLS:C0206622|EFO:0007133 owl:Class GO:0006449 biolink:NamedThing regulation of translational termination Any process that modulates the frequency, rate or extent of translational termination. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018810 biolink:NamedThing lethal hydranencephaly-diaphragmatic hernia syndrome Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:480528|UMLS:CN776878 owl:Class MONDO:0023176 biolink:NamedThing formaldehyde poisoning tmpaxzxjjyw_mondo_relaxed.owl formaldehyde exposure|Formalin intoxication|Formalin toxicity|formaldehyde toxicity MESH:C537268|GARD:0002361 https://rarediseases.info.nih.gov/diseases/2361/formaldehyde-poisoning owl:Class MONDO:0014707 biolink:NamedThing 14q32 duplication syndrome 14q32 duplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 14 that results in a predisposition to a number of adult-onset myeloproliferative neoplasms, including acute myeloid leukemia, chronic myelomonocytic leukemia, and myeloproliferative neoplasms, especially essential thrombocythemia. Progression to myelofibrosis and secondary acute myeloid leukemia can be observed. tmpaxzxjjyw_mondo_relaxed.owl myeloproliferative neoplasms, familial, susceptibility to|trisomy 14q32|dup(14)q(32)|chromosome 14q32 DUPLICATION syndrome, 700-KB|predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication OMIM:616604|UMLS:C4225449|Orphanet:488280 owl:Class UBERON:0003279 biolink:NamedThing endothelium of trachea tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000077 biolink:NamedThing mixed endoderm/mesoderm-derived structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001744 biolink:NamedThing lymphoid tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034769 biolink:NamedThing lymphomyeloid tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003072 biolink:NamedThing retinal cancer A malignant neoplasm involving the retina. tmpaxzxjjyw_mondo_relaxed.owl cancer of retina|malignant neoplasm of retina|malignant retina neoplasm|malignant retinal tumor|malignant retina tumor|malignant retinal neoplasm|malignant neoplasm of the retina|retina cancer|malignant tumor of the retina|retinal tumor|malignant tumor of retina ICD10:C69.2|NCIT:C4800|ICD9:190.5|MESH:D019572|DOID:4645|NCIT:C3216|EFO:0005716|SCTID:363465007 owl:Class HGNC:3261 biolink:NamedThing EIF2B5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021527 biolink:NamedThing benign neoplasm of meninges A benign neoplasm that involves the meningeal cluster. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the meninges|benign tumor of meninges|benign tumor of the meninges|meningeal tumors, benign|benign neoplasms of meninges|benign meningeal tumors|benign meninges neoplasm|benign meningeal tumor|benign neoplasms of the meninges|benign meningeal neoplasms|meningeal cluster benign neoplasm|benign meninges tumor|benign meningeal neoplasm SCTID:109913001|ICD10:D32|NCIT:C4957|UMLS:C0348426 owl:Class MONDO:0014712 biolink:NamedThing Senior-Loken syndrome 9 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene. tmpaxzxjjyw_mondo_relaxed.owl TRAF3IP1 Senior-Loken syndrome|Senior-Loken syndrome type 9|Senior-Loken syndrome 9|Senior-Loken syndrome caused by mutation in TRAF3IP1|Senior-Loken syndrome 9; SLSN9|SLSN9 OMIM:616629|UMLS:C4225263 owl:Class MONDO:0017842 biolink:NamedThing Senior-Loken syndrome Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy. tmpaxzxjjyw_mondo_relaxed.owl SLSN|renal dysplasia-retinal aplasia syndrome|renal dysplasia retinal aplasia|nephronophthisis with retinal dystrophy|Senior Loken syndrome|renal-retinal syndrome|Loken Senior syndrome OMIM:610189|ICD10:Q61.5|Orphanet:3156|MESH:C537580|OMIM:614845|OMIMPS:266900|GARD:0000322|OMIM:613615|UMLS:CN117960|OMIM:609254|OMIM:616629|DOID:0050576|OMIM:266900|OMIM:606996|OMIM:606995|OMIM:616307 owl:Class MONDO:0023543 biolink:NamedThing Katsantoni-Papadakou-Lagoyanni syndrome tmpaxzxjjyw_mondo_relaxed.owl Trichodermal syndrome and mental retardation|Katsantoni Papadakou Lagoyanni syndrome|Trichodermal syndrome and intellectual disability UMLS:C2931394|MESH:C537012|GARD:0003081 https://rarediseases.info.nih.gov/diseases/3081/katsantoni-papadakou-lagoyanni-syndrome owl:Class MONDO:0002917 biolink:NamedThing disorder of pilosebaceous unit A disease that involves the pilosebaceous unit. tmpaxzxjjyw_mondo_relaxed.owl hair and hair follicle diseases|pilosebaceous unit disease or disorder|hair disorder|pilosebaceous unit disease|disease of pilosebaceous unit|disease or disorder of pilosebaceous unit|disorder of pilosebaceous unit|hair disease|hair/hair follicle diseases ICD9:704.9|UMLS:C0018500|DOID:421|MESH:D006201|SCTID:201128002|ICD9:704.8|UMLS:C0554472|NCIT:C34656 owl:Class ENVO:00002203 biolink:NamedThing inorganically enriched sediment Chemically-enriched sediment which has increased levels of inorganic compounds. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00002114 biolink:NamedThing chemically enriched sediment Sediment which has increased levels of one or more chemical compounds. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002119 biolink:NamedThing ossifying fibroma A well circumscribed lesion of the bone, most frequently arising from the posterior mandible. It is characterized by the presence of fibrous tissue and a mineralized component which may be woven bone, lamellar bone, or cementum-like material. Complete removal is recommended, since it continues to enlarge if left untreated. tmpaxzxjjyw_mondo_relaxed.owl ossifying fibroma (disease)|cemento-ossifying fibroma|juvenile ossifying fibroma|fibro-osteoma|Cementifying fibroma|peripheral ossifying fibroma|fibroma, ossifying, benign|ossifying fibroma ossifying fibroma (disease) DOID:180|HP:0030426|ICDO:9262/0|MESH:D018214|EFO:0007412|UMLS:C0206640|ICDO:9274/0|NCIT:C8422|GARD:0012792 owl:Class MONDO:0005315 biolink:NamedThing bone fracture Breaks in bones. tmpaxzxjjyw_mondo_relaxed.owl fracture of bone|fracture(s)|fracture EFO:0003931|NCIT:C3046|SCTID:125605004|MESH:D050723 owl:Class MONDO:0021178 biolink:NamedThing injury Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. tmpaxzxjjyw_mondo_relaxed.owl wound|trauma|injury|traumatic injury NCIT:C3671|MESH:D014947|ICD10:S00.T98|EFO:0000546 owl:Class GO:0001911 biolink:NamedThing negative regulation of leukocyte mediated cytotoxicity Any process that stops, prevents, or reduces the rate of leukocyte mediated cytotoxicity. tmpaxzxjjyw_mondo_relaxed.owl inhibition of leukocyte mediated cytotoxicity|negative regulation of leucocyte mediated cytotoxicity|down-regulation of leukocyte mediated cytotoxicity|down regulation of leukocyte mediated cytotoxicity|downregulation of leukocyte mediated cytotoxicity|negative regulation of immune cell mediated cytotoxicity owl:Class MONDO:0002829 biolink:NamedThing bartholin gland carcinoma A carcinoma that arises from the Bartholin gland. It usually affects women over fifty and presents with enlargement of the Bartholin gland. Various histologic subtypes have been identified and include adenocarcinoma, squamous cell carcinoma, adenoid cystic carcinoma, adenosquamous carcinoma, transitional cell carcinoma, and small cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl Bartholin's gland carcinoma|major vestibular gland carcinoma|Bartholin gland carcinoma (disease)|Bartholin gland cancer|Bartholin's gland cancer|carcinoma of major vestibular gland|carcinoma of the Bartholin's gland|carcinoma of Bartholin's gland|bartholin gland carcinoma EFO:1000103|NCIT:C9055|SCTID:276876007|DOID:3999|UMLS:C0349561|DOID:60003|HP:0030419 owl:Class MONDO:0021114 biolink:NamedThing Bartholin gland neoplasm A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl Bartholin gland neoplasm|tumor of major vestibular gland|neoplasm of major vestibular gland|major vestibular gland tumor|Bartholin's gland tumor|tumor of the Bartholin's gland|major vestibular gland neoplasm (disease)|major vestibular gland neoplasm|tumor of Bartholin's gland|neoplasm of Bartholin's gland|neoplasm of the Bartholin's gland|Bartholin's gland neoplasm NCIT:C6434 owl:Class GO:0032269 biolink:NamedThing negative regulation of cellular protein metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. tmpaxzxjjyw_mondo_relaxed.owl down regulation of cellular protein metabolic process|inhibition of cellular protein metabolic process|downregulation of cellular protein metabolic process|down-regulation of cellular protein metabolic process|negative regulation of cellular protein metabolism owl:Class HP:0001331 biolink:NamedThing Absent septum pellucidum Absence of the septum pellucidum. tmpaxzxjjyw_mondo_relaxed.owl Agenesis of the septum pellucidum|Absence of septum pellucidum|Missing septum pellucidum|Absence of the septum pellucidum UMLS:C0431371|MSH:C535562|SNOMEDCT_US:253143001 TODO: Bundled term. Revise annotations and split this term. HP:0006969 human_phenotype owl:Class HP:0007375 biolink:NamedThing Abnormality of the septum pellucidum An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4024894 peter 2008-04-01T10:48:00Z human_phenotype owl:Class UBERON:0002080 biolink:NamedThing heart right ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035554 biolink:NamedThing right cardiac chamber tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0022358 biolink:NamedThing placenta blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014738 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 69 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene. tmpaxzxjjyw_mondo_relaxed.owl unilateral or asymmetric congenital deafness|DFNA69|KITLG autosomal dominant nonsyndromic deafness|autosomal dominant deafness 69|DCUA|autosomal dominant nonsyndromic deafness caused by mutation in KITLG|deafness, congenital, unilateral or asymmetric|autosomal dominant nonsyndromic deafness type 69|deafness, autosomal dominant 69|autosomal dominant nonsyndromic deafness 69 OMIM:616697|ICD10:H90.3|DOID:0110590|UMLS:C4225241 owl:Class MONDO:0016911 biolink:NamedThing partial deletion of the long arm of chromosome 13 A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 13. tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome 13q|partial deletion of the long arm of chromosome type 13|13q deletion|del(13q)|partial monosomy of chromosome 13q|chromosome 13q deletion|13q monosomy|loss of chromosome 13q|monosomy 13q|deletion 13q|partial monosomy of the long arm of chromosome 13 GARD:0001738|MESH:C535449|Orphanet:262101|ICD10:Q93.5|NCIT:C36497 owl:Class MONDO:0034186 biolink:NamedThing autosomal recessive extra-oral halitosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:562538 owl:Class MONDO:0014794 biolink:NamedThing Meier-Gorlin syndrome 6 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene. tmpaxzxjjyw_mondo_relaxed.owl MGORS6|Meier-Gorlin syndrome type 6|Meier-Gorlin syndrome caused by mutation in GMNN|Meier-GORLIN syndrome 6|Meier-Gorlin syndrome 6|GMNN Meier-Gorlin syndrome OMIM:616835|DOID:0080517|UMLS:C4225188 owl:Class UBERON:0014790 biolink:NamedThing lingual septum tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0005832 biolink:NamedThing Dysharmonic delayed bone age A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859444 HP:0005840 human_phenotype owl:Class HP:0200000 biolink:NamedThing Dysharmonic bone age Different levels of maturation of different bones. tmpaxzxjjyw_mondo_relaxed.owl Dysharmonic skeletal maturation UMLS:C4020918 Bone age is usually determined by using a radiograph of the left hand to compare with images in the Greulich-Pyle atlas and approximating the closest skeletal age. If the skeletal ages of individuals bones are different, i.e., different bones have (clearly) different levels of maturation, then it is referred to as dysharmonic skeletal maturation. sebastiankohler 2010-05-31T01:16:51Z human_phenotype owl:Class HGNC:17582 biolink:NamedThing KAT6B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7516 biolink:NamedThing MUC5B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001424 biolink:NamedThing sarcoid meningitis Meningitis that arises from sarcoidosis. tmpaxzxjjyw_mondo_relaxed.owl meningitis in sarcoidosis UMLS:C0154648|ICD9:321.4|DOID:12055|ICD10:D86.81|SCTID:192673008 Editor note: consider obsoleting as represents a finding not a disease owl:Class MONDO:0024891 biolink:NamedThing non-infectious meningitis tmpaxzxjjyw_mondo_relaxed.owl non-infective meningitis SCTID:230155003|UMLS:C0393442 owl:Class UBERON:3011045 biolink:NamedThing gasserian ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000045 biolink:NamedThing ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020581 biolink:NamedThing benign PEComa A tumor with perivascular epithelioid cell differentiation characterized by the absence of pleomorphism and scarcity or absence of mitotic figures. tmpaxzxjjyw_mondo_relaxed.owl typical PEComa|benign PEComa, nos|benign PEComa|benign PEComa, not otherwise specified|neoplasm with perivascular epithelioid cell differentiation, benign|benign neoplasm with perivascular epithelioid cell differentiation NCIT:C121791|UMLS:C3839685 owl:Class MONDO:0006359 biolink:NamedThing neoplasm with perivascular epithelioid cell differentiation A soft tissue neoplasm composed of perivascular epithelioid cells. Representative examples include angiomyolipoma, clear cell-sugar-tumor of the lung, and lymphangioleiomyomatosis. tmpaxzxjjyw_mondo_relaxed.owl perivascular epithelioid cell tumor|neoplasm with perivascular epithelioid cell differentiation|PEComa|tumor with perivascular epithelioid cell differentiation UMLS:C1300127|Orphanet:595133|NCIT:C38150|DOID:2643|EFO:1000464|ICD10:D21.9|ONCOTREE:PECOMA|MESH:D054973 MeSH defintion: A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002). owl:Class HGNC:7820 biolink:NamedThing NHS tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006915 biolink:NamedThing apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. tmpaxzxjjyw_mondo_relaxed.owl programmed cell death by apoptosis|cell suicide|apoptosis|caspase-dependent programmed cell death|cellular suicide|apoptotic programmed cell death|activation of apoptosis|apoptotic program|commitment to apoptosis|induction of apoptosis by p53|apoptosis activator activity|type I programmed cell death|apoptotic cell death|signaling (initiator) caspase activity|apoptosis signaling|induction of apoptosis owl:Class GO:0012501 biolink:NamedThing programmed cell death A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. tmpaxzxjjyw_mondo_relaxed.owl PCD|RCD|nonapoptotic programmed cell death|non-apoptotic programmed cell death|regulated cell death|caspase-independent apoptosis|caspase-independent cell death owl:Class GO:0098609 biolink:NamedThing cell-cell adhesion The attachment of one cell to another cell via adhesion molecules. tmpaxzxjjyw_mondo_relaxed.owl single organismal cell-cell adhesion owl:Class GO:0007155 biolink:NamedThing cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. tmpaxzxjjyw_mondo_relaxed.owl single organism cell adhesion|cell adhesion molecule activity owl:Class MONDO:0023143 biolink:NamedThing fetal enterovirus syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0002302 https://rarediseases.info.nih.gov/diseases/2302/fetal-enterovirus-syndrome owl:Class MONDO:0016511 biolink:NamedThing infectious embryofetopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:232035 owl:Class GO:0048873 biolink:NamedThing homeostasis of number of cells within a tissue Any biological process involved in the maintenance of the steady-state number of cells within a population of cells in a tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001894 biolink:NamedThing tissue homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function. tmpaxzxjjyw_mondo_relaxed.owl tissue maintenance owl:Class MONDO:0020193 biolink:NamedThing secretory apparatus of the lacrimal system anomaly tmpaxzxjjyw_mondo_relaxed.owl disease of lacrimal gland|disorder of lacrimal gland|lacrimal gland disease Orphanet:98603 owl:Class MONDO:0003481 biolink:NamedThing dysgerminoma of ovary A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage. tmpaxzxjjyw_mondo_relaxed.owl germ cell dysgerminoma of ovary|ovary dysgerminoma (disease)|dysgerminoma of ovary|ovarian dysgerminoma|dysgerminoma of the ovary|ovarian germ cell dysgerminoma|germ cell dysgerminoma of the ovary|dysgerminoma NCIT:C8106|DOID:5511|ONCOTREE:ODYS|EFO:1000414|SCTID:254874008|UMLS:C0346185 owl:Class MONDO:0003408 biolink:NamedThing ovarian primitive germ cell tumor A malignant tumor that arises from the ovary and is characterized by the presence of malignant germ cell components but lacks a teratoma component. tmpaxzxjjyw_mondo_relaxed.owl ovarian primitive germ cell tumor DOID:5351|UMLS:C1518727|NCIT:C39986 owl:Class MONDO:0011014 biolink:NamedThing pleuropulmonary blastoma A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas. tmpaxzxjjyw_mondo_relaxed.owl pleuropulmonary blastoma (morphologic abnormality)|pediatric pulmonary blastoma|pleuropulmonary blastoma|pulmonary blastoma of childhood|PPB familial tumor and dysplasia syndrome|PPB|childhood pulmonary blastoma Orphanet:64742|SCTID:707670009|ICD10:C34.9|UMLS:CN072455|ONCOTREE:PPB|ICD10:C34.3|ICD10:C34.1|UMLS:C1266144|ICDO:8973/3|DOID:4769|ICD9:162.9|GARD:0008757|ICD10:C34.2|OMIM:601200|Orphanet:284343|MESH:C537516|EFO:0009052|NCIT:C5669 owl:Class MONDO:0006517 biolink:NamedThing childhood malignant neoplasm A malignant tumor that occurs in children. Representative examples include soft tissue and bone sarcomas (e.g. osteosarcoma) and embryonal neoplasms (e.g. hepatoblastoma and rhabdoid tumor). tmpaxzxjjyw_mondo_relaxed.owl malignant childhood neoplasm|childhood neoplasm, malignant|pediatric cancer|childhood cancer|malignant childhood tumor|malignant pediatric neoplasm|malignant pediatric tumor|childhood malignant neoplasm|malignant neoplasm EFO:1000654|UMLS:C0278704|NCIT:C4005 owl:Class MONDO:0017282 biolink:NamedThing alveolar echinococcosis Alveolar echinococcosis (AE) is a rare parasitic disorder that occurs after ingestion of eggs of Echinococcus multilocularis. AE is characterized by an initial asymptomatic incubation period of many years followed by a chronic course where the clinical manifestations include epigastric pain and jaundice. tmpaxzxjjyw_mondo_relaxed.owl Echinococcus multilocularis disease or disorder|echinococcus multilocularis infection|Echinococcus multilocularis infectious disease|echinococcosis|alveolococcosis|small fox tapeworm|multilocular hydatid|Echinococcus multilocularis infection|Echinococcus multilocularis caused disease or disorder ICD9:122.7|SCTID:21009004|DOID:12148|MedDRA:10053042|UMLS:C0152069|GARD:0000207|ICD10:B67.5|MESH:C536591|ICD10:B67.6|Orphanet:284|ICD10:B67.7|UMLS:C0948954 owl:Class MONDO:0005738 biolink:NamedThing echinococcosis A parasitic infection caused by tapeworm larvae of Echinococcus. It affects livestock and humans. It is characterized by the formation of hydatid cysts mainly in the liver, lungs, spleen, and kidneys. Rupture of the cysts may lead to shock. tmpaxzxjjyw_mondo_relaxed.owl Echinococcus caused disease or disorder|hydatid disease|echinococcosis|echinococcosis of liver|hepatic echinococcosis|echinococciasis|liver echinococcus|Echinococcus disease or disorder|hydatidosis|pulmonary echinococcosis|Echinococcus infectious disease|echinococcus disease|echinococcosis, unspecified, of liver|echinococcal disease DOID:1496|UMLS:C0013502|ICD9:122|SCTID:74942003|MESH:D004443|ICD10:B67|ICD9:122.9|ICD10:B67.90|NCIT:C84682|EFO:0007245 owl:Class GO:0061534 biolink:NamedThing gamma-aminobutyric acid secretion, neurotransmission The regulated release of gamma-aminobutyric acid by a cell, in which the gamma-aminobutyric acid acts as a neurotransmitter. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007269 biolink:NamedThing neurotransmitter secretion The regulated release of neurotransmitter from the presynapse into the synaptic cleft via calcium-regulated exocytosis during synaptic transmission. tmpaxzxjjyw_mondo_relaxed.owl neurotransmitter release|neurotransmitter secretory pathway owl:Class MONDO:0017994 biolink:NamedThing severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency tmpaxzxjjyw_mondo_relaxed.owl ICD10:E66.8|UMLS:CN204200|Orphanet:329249 owl:Class MONDO:0020075 biolink:NamedThing genetic non-syndromic obesity tmpaxzxjjyw_mondo_relaxed.owl genetic non-syndromic obesity|monogenic isolated obesity|genetic isolated obesity|monogenic obesity due to a leptin-melanocortin pathway anomaly Orphanet:98267 owl:Class UBERON:0015049 biolink:NamedThing carpus endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001555 biolink:NamedThing digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002423 biolink:NamedThing rectosigmoid junction neoplasm A benign or malignant neoplasm that affects the rectosigmoid region. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectosigmoid adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of rectosigmoid junction|tumor of the rectosigmoid junction|rectosigmoid tumor|tumor of rectosigmoid junction|neoplasm of the rectosigmoid junction|rectosigmoid neoplasm|rectosigmoid junction neoplasm (disease)|rectosigmoid junction tumor UMLS:C0345873|NCIT:C4877|SCTID:126848003|DOID:2780 owl:Class MONDO:0006971 biolink:NamedThing sigmoid neoplasm Tumors or cancer of the sigmoid colon. tmpaxzxjjyw_mondo_relaxed.owl tumor of sigmoid colon|sigmoid colon neoplasm (disease)|neoplasm of sigmoid colon|sigmoid colon tumor|sigmoid colon neoplasm MedDRA:10026456|MESH:D012811|DOID:1896|EFO:1001181|UMLS:C0037073|ICD9:153.3|SCTID:126845000 Editor note: NCIT uses rectosigmoid as a region owl:Class HGNC:12367 biolink:NamedThing TSFM tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10898 biolink:NamedThing SKIV2L tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0009815 biolink:NamedThing Aplasia/hypoplasia of the extremities Absence (due to failure to form) or underdevelopment of the extremities. tmpaxzxjjyw_mondo_relaxed.owl Short or absent limbs|Absent/small extremities|Shortened limbs|Absent/underdeveloped extremities UMLS:C0239399 doelkens 2009-02-23T05:06:40Z HP:0006497|HP:0002969 human_phenotype owl:Class UBERON:0001458 biolink:NamedThing skin of lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003788 biolink:NamedThing childhood embryonal testis carcinoma An embryonal carcinoma that arises from the testis during childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric embryonal carcinoma of testis|pediatric embryonal carcinoma of the testis|pediatric testicular embryonal carcinoma|childhood embryonal carcinoma of testis|childhood testicular embryonal carcinoma|testicular embryonal carcinoma of childhood|childhood embryonal carcinoma of the testis DOID:6162|UMLS:C1333007|NCIT:C6545 owl:Class MONDO:0003758 biolink:NamedThing childhood testicular germ cell tumor A germ cell tumor that arises from the testis during childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric testicular germ cell tumor|childhood testicular germ cell neoplasm|testicular germ cell tumor of childhood|pediatric testicular germ cell neoplasm|testicular germ cell tumor|childhood testicular germ cell tumor UMLS:C0796663|NCIT:C6552|DOID:6082 owl:Class UBERON:0015030 biolink:NamedThing pedal digit phalanx endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010575 biolink:NamedThing manual digit 1 phalanx pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015025 biolink:NamedThing manual digit 1 phalanx endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005628 biolink:NamedThing male breast carcinoma A malignant neoplasm involving the male breast. tmpaxzxjjyw_mondo_relaxed.owl Male breast cancer|male breast carcinoma|Male breast carcinoma|carcinoma of Male breast|breast cancer in men|male breast cancer|carcinoma of the Male breast|breast cancer, male|neoplasm of male breast|carcinoma of male breast|malignant neoplasm of male breast UMLS:C0242787|DOID:1614|MESH:D018567|NCIT:C3862|SCTID:372095001|EFO:0006861|UMLS:C0242788|GARD:0009312|UMLS:C0238033|ICD9:175.9 owl:Class CHEBI:35545 biolink:NamedThing bipyridine tmpaxzxjjyw_mondo_relaxed.owl Bipyridin|bipyridine|bipyridyl owl:Class CHEBI:50511 biolink:NamedThing bipyridines Compounds containing a bipyridine group. tmpaxzxjjyw_mondo_relaxed.owl bipyridyls owl:Class MONDO:0012240 biolink:NamedThing nemaline myopathy 4 Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene. tmpaxzxjjyw_mondo_relaxed.owl nemaline myopathy 4, autosomal dominant|Cap myopathy 2|TPM2 nemaline myopathy|NEM4|nemaline myopathy 4|nemaline myopathy type 4|nemaline myopathy caused by mutation in TPM2 OMIM:609285|UMLS:C1836447|Orphanet:607|MESH:C538351|DOID:0110932|Orphanet:171881 owl:Class GO:0006743 biolink:NamedThing ubiquinone metabolic process The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme. tmpaxzxjjyw_mondo_relaxed.owl ubiquinone metabolism|coenzyme Q metabolism|coenzyme Q metabolic process owl:Class GO:1901661 biolink:NamedThing quinone metabolic process The chemical reactions and pathways involving quinone. tmpaxzxjjyw_mondo_relaxed.owl quinone cofactor metabolic process|quinone metabolism|quinone cofactor metabolism owl:Class UBERON:0004239 biolink:NamedThing small intestine smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000283 biolink:NamedThing negative regulation of cellular amino acid biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of cellular amino acid biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cellular amino acid biosynthesis|negative regulation of cellular amino acid synthesis|negative regulation of amino acid biosynthetic process|negative regulation of cellular amino acid formation|negative regulation of cellular amino acid anabolism owl:Class NCBITaxon:356 biolink:NamedThing Hyphomicrobiales tmpaxzxjjyw_mondo_relaxed.owl rhizobacteria|alpha-2 proteobacteria|Rhizobiales|Rhizobiaceae group PMID:1854635|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:28211 biolink:NamedThing Alphaproteobacteria tmpaxzxjjyw_mondo_relaxed.owl Proteobacteria alpha subdivision|alpha proteobacteria|Purple bacteria, alpha subdivision|a-proteobacteria|alpha subgroup|Alphabacteria|alpha subdivision PMID:16403855|PMID:19060069|PMID:11541974|PMID:16166687|GC_ID:11|PMID:11837318 ncbi_taxonomy owl:Class MONDO:0012594 biolink:NamedThing complement factor I deficiency tmpaxzxjjyw_mondo_relaxed.owl complement Factor 1 deficiency|immunodeficiency with factor I anomaly|complement factor I deficiency|C3 inactivator deficiency|CFID|complement component 3 inactivator deficiency DOID:0050419|UMLS:C3463916|Orphanet:200418|ICD10:D84.1|MESH:C572568|OMIM:610984 owl:Class UBERON:0002473 biolink:NamedThing intercerebral commissure tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019294 biolink:NamedThing commissure of telencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14537 biolink:NamedThing NPC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001629 biolink:NamedThing carotid body tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034979 biolink:NamedThing nonchromaffin paraganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019393 biolink:NamedThing idiopathic malabsorption due to bile acid synthesis defects Idiopathic malabsorption due to increased acid bile synthesis is an intestinal disease of unknown etiology characterized by an overproduction of bile acids which leads to chronic watery diarrhea. tmpaxzxjjyw_mondo_relaxed.owl idiopathic bile acid malabsorption Orphanet:84065|ICD10:K90.8 owl:Class MONDO:0010060 biolink:NamedThing infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. tmpaxzxjjyw_mondo_relaxed.owl TWNK autosomal recessive degenerative and progressive cerebellar ataxia|SCA8 (formerly)|autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in TWNK|spinocerebellar ataxia, infantile, with sensory neuropathy|ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis|mitochondrial DNA depletion syndrome 7 (hepatocerebral type)|OHAHA syndrome|ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis|spinocerebellar ataxia 8 (formerly)|IOSCA|ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome|mitochondrial DNA depletion syndrome 7|mitochondrial DNA depletion syndrome type 7|spinocerebellar ataxia, infantile-onset|spinocerebellar ataxia 8, formerly|Ohaha syndrome|MTDPS7|spinocerebellar ataxia 8|ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis|spinocerebellar ataxia infantile with sensory neuropathy SCTID:724227000|DOID:0080126|UMLS:C1849096|OMIM:271245|MESH:C535523|GARD:0004062|DOID:0050556|ICD10:G11.1|Orphanet:1186 Editor notes: DO terms may need to be merged. See: https://github.com/monarch-initiative/mondo-build/issues/5 owl:Class MONDO:0020046 biolink:NamedThing autosomal recessive degenerative and progressive cerebellar ataxia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98098|UMLS:CN229259 owl:Class MONDO:0003352 biolink:NamedThing colon sarcoma A malignant soft tissue neoplasm that arises from the colon. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma. tmpaxzxjjyw_mondo_relaxed.owl colon sarcoma|sarcoma of colon|sarcoma of the colon|colonic sarcoma NCIT:C5495|DOID:5260|UMLS:C1333098 owl:Class MONDO:0009577 biolink:NamedThing megalocornea-intellectual disability syndrome Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported. tmpaxzxjjyw_mondo_relaxed.owl Neuhäuser syndrome|Neuhauser syndrome|megalocornea-mental retardation syndrome|megalocornea intellectual disability syndrome|megalocornea mental retardation syndrome|megalocornea-intellectual disability syndrome|NeuhC$user syndrome|MMR syndrome UMLS:C0796086|MESH:C536143|GARD:0003448|Orphanet:2479|ICD10:Q87.8|SCTID:733522005|OMIM:249310 https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome owl:Class MONDO:0012829 biolink:NamedThing inflammatory bowel disease 12 An inflammatory bowel disease that has material basis in variation in the chromosome region 3p21.3 tmpaxzxjjyw_mondo_relaxed.owl IBD12|inflammatory bowel disease 12|inflammatory bowel disease type 12 UMLS:C2677105|DOID:0110887|OMIM:612241|MESH:C567388 owl:Class MONDO:0011771 biolink:NamedThing distal spinal muscular atrophy type 3 Distal spinal muscular atrophy type 3 is a rare neuromuscular disease characterized by progressive muscular weakness and atrophy predominantly affecting distal parts of limbs, later involvement of proximal and trunk muscles with marked hyperlordosis and late diaphragmatic dysfunction. tmpaxzxjjyw_mondo_relaxed.owl dHMN3|distal hereditary motor neuropathy type 3 and type 4|dHMN3 and dHMN4|autosomal recessive distal spinal muscular atrophy type 3|dHMN4|neuronopathy, distal hereditary motor, type 4|HMN 3|neuropathy, distal hereditary motor, type 4|HMN 4|spinal muscular atrophy, distal, autosomal recessive, 3|neuronopathy, distal hereditary motor, type 3|dSMA3 DOID:0111211|ICD10:G12.2|MESH:C564626|UMLS:C1846823|OMIM:607088|Orphanet:139547 owl:Class MONDO:0001516 biolink:NamedThing spinal muscular atrophy Spinal muscular atrophy (SMA) refers to a group of inherited conditions that affect the muscles. The severity of the condition; the associated signs and symptoms; and the age at which symptoms develop varies by subtype. In general, people with SMA experience progressive weakness and atrophy of muscles involved in mobility, the ability to sit unassisted, and head control. Breathing and swallowing may also be affected in severe cases. SMA is generally caused by changes (mutations) in the SMN1 gene and is inherited in an autosomal recessive manner. Extra copies of the SMN2 gene modify the severity of SMA. Rare autosomal dominant (caused by mutations in DYNC1H1, BICD2, or VAPB genes) and X-linked (caused by mutations in UBA1) forms of SMA exist. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl DOID:12377|ICD9:335.10|ICD9:335.19|MESH:D009134|EFO:0008525|GARD:0007674|ICD10:G12.9|ICD9:335.1|NCIT:C85075|SCTID:5262007|UMLS:C0026847 https://rarediseases.info.nih.gov/diseases/7674/spinal-muscular-atrophy owl:Class MONDO:0021581 biolink:NamedThing connective tissue neoplasm Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. tmpaxzxjjyw_mondo_relaxed.owl connective tissue neoplasm (disease)|connective tissue neoplasms|neoplasm of connective tissue|connective tissue tumor|tumor of connective tissue|neoplasm of connective tissues|tumour of connective tissue|neoplasm, connective tissue|connective tissue neoplasm ICD9:239.2|MESH:D009372|SCTID:126598008|UMLS:C0027656 owl:Class NCBITaxon:6448 biolink:NamedThing Gastropoda tmpaxzxjjyw_mondo_relaxed.owl gastropods GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6447 biolink:NamedThing Mollusca tmpaxzxjjyw_mondo_relaxed.owl molluscs|mollusks GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022672 biolink:NamedThing autosomal dominant cataract A syndromic cataract that has autosomal dominant inheritance. tmpaxzxjjyw_mondo_relaxed.owl cataract congenital autosomal dominant GARD:0001143 https://rarediseases.info.nih.gov/diseases/1143/cataract-congenital-autosomal-dominant owl:Class MONDO:0005129 biolink:NamedThing cataract Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) tmpaxzxjjyw_mondo_relaxed.owl cataract|opacity of the lens|cataract (disease) cataract (disease) NCIT:C26713|OMIM:115900|ICD9:366.9|HP:0000518|ICD9:366.44|EFO:0001059|ICD9:366.8|OMIM:116100|OMIMPS:116200|OMIM:601371|OMIM:616509|ICD9:366|ICD10:H26|SCTID:193570009|DOID:83|MESH:D002386|OMIM:616279 owl:Class MONDO:0100466 biolink:NamedThing butterfly-shaped pigment dystrophy A patterned dystrophy of the retinal pigment epithelium characterized by abnormal accumulation of lipofuscin in a butterfly-shaped distribution at the retinal pigment epithelium level. Patients manifest with a slowly progressive loss of vision that often only becomes apparent in old age. tmpaxzxjjyw_mondo_relaxed.owl butterfly-shaped pigmentary macular dystrophy|butterfly-shaped pattern dystrophy|butterfly-shaped pigment dystrophy Orphanet:99001 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/1819 owl:Class MONDO:0018973 biolink:NamedThing patterned dystrophy of the retinal pigment epithelium tmpaxzxjjyw_mondo_relaxed.owl MESH:C536309|ICD10:H35.5|Orphanet:63454|UMLS:C1868569|GARD:0009821 owl:Class MONDO:0010914 biolink:NamedThing carnitine palmitoyl transferase II deficiency, severe infantile form The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease. tmpaxzxjjyw_mondo_relaxed.owl Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form|Carnitine palmitoyl transferase deficiency type 2, severe infantile form|carnitine palmitoyl transferase II deficiency, severe infantile form|CARNITINE PALMITOYLTRANSFERASE II deficiency, infantile|Carnitine Palmitoyltransferase 2 deficiency with hypoketotic hypoglycemia|CPT 2 deficiency, hepatic|CPT2, hepatocardiomuscular form|CPTII, hepatocardiomuscular form|CPT2, severe infantile form|Carnitine Palmitoyltransferase 2 deficiency, infantile|Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|Cpt2 deficiency, infantile|Carnitine Palmitoyltransferase 2 deficiency, hepatocardiomuscular|CPTII, severe infantile form UMLS:C1833511|ICD10:E71.3|MESH:C563462|OMIM:600649|Orphanet:228305|Orphanet:157 owl:Class MONDO:0015515 biolink:NamedThing carnitine palmitoyltransferase II deficiency Carnitine palmitoyltransferase II (CPT II) deficiency is an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA). Three forms of CPT II deficiency have been described: a myopathic form, a severe infantile form and a neonatal form. tmpaxzxjjyw_mondo_relaxed.owl Carnitine palmitoyltransferase deficiency type 2|late-onset carnitine palmitoyltransferase II deficiency|CPT II deficiency|CPT-II|Carnitine palmitoyltransferase II (CPT II) deficiency|carnitine palmitoyltransferase II deficiency|CPTII|infantile carnitine palmitoyltransferase II deficiency|CPT2|lethal neonatal carnitine palmitoyltransferase II deficiency|Carnitine palmitoyltransferase 2 deficiency OMIM:608836|OMIM:600649|Orphanet:157|DOID:0060235|UMLS:C0342790|ICD9:277.85|GARD:0001121|SCTID:238002005|ICD10:E71.3|NCIT:C114766|MESH:C535589|OMIM:255110|HGNC:2330 https://rarediseases.info.nih.gov/diseases/1121/carnitine-palmitoyltransferase-2-deficiency owl:Class CHEBI:35618 biolink:NamedThing aromatic ether Any ether in which the oxygen is attached to at least one aryl substituent. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33659 biolink:NamedThing organic aromatic compound tmpaxzxjjyw_mondo_relaxed.owl organic aromatic compounds owl:Class MONDO:0006288 biolink:NamedThing malignant adrenal gland pheochromocytoma A pheochromocytoma that metastasizes to other anatomic sites. Common sites of metastasis include lymph nodes, bones, liver, and lung. Morphologic features associated with malignant pheochromocytomas include: atypical mitotic figures, capsular and vascular invasion, tumor cell necrosis, and high mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl malignant adrenal gland paraganglioma|adrenal gland pheochromocytoma, malignant|malignant adrenal gland Chromaffinoma|pheochromocytoma, malignant|malignant adrenal medullary pheochromocytoma|malignant adrenal pheochromocytoma|malignant adrenal gland pheochromocytoma|pheochromoblastoma|malignant adrenal gland chromaffin tumor|malignant pheochromocytoma|malignant adrenal medullary paraganglioma|malignant adrenal gland chromaffin neoplasm|malignant adrenal gland chromaffin paraganglioma DOID:0080347|ICDO:8700/3|EFO:1000348|SCTID:21851000119103|UMLS:C0334419|NCIT:C4220 owl:Class MONDO:0002120 biolink:NamedThing neuroendocrine carcinoma A malignant neuroendocrine neoplasm composed of cells containing secretory granules that stain positive for NSE and chromogranin. The neoplastic cells are often round and form clusters or trabecular sheets. Representative examples are small cell carcinoma, large cell neuroendocrine carcinoma, and Merkel cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine carcinoma|neuroendocrine cancer|NEC DOID:1800|ICDO:8246/3|UMLS:C0206695|SCTID:253000007|MESH:D018278|NCIT:C3773 owl:Class MONDO:0021089 biolink:NamedThing peripheral nervous system cancer Malignant growth of cells in the peripheral nervous system (PNS)or Autonomic Nervous System (ANS), without specification as to location tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasms, peripheral nerve|malignant neoplasm of peripheral nerve|peripheral nervous system cancer|malignant peripheral nerve neoplasm|malignant peripheral nerve tumor|malignant neoplasm of the PNS|peripheral nervous system neoplasms, malignant|malignant neoplasm of the peripheral nerve|cancer of peripheral nervous system|malignant neoplasm of the peripheral nervous system|malignant tumor of PNS|malignant PNS neoplasm|malignant PNS tumor|malignant tumor of the peripheral nervous system|malignant peripheral nervous system tumor|malignant tumor of peripheral nervous system|malignant tumor of the peripheral nerve|malignant neoplasm of peripheral nervous system|malignant tumor of the PNS|malignant tumor of peripheral nerve|malignant neoplasm of PNS|malignant peripheral nervous system neoplasm UMLS:C0751428|NCIT:C4961|ICD9:171.9|SCTID:254986007 owl:Class CHEBI:37327 biolink:NamedThing isoalloxazine tmpaxzxjjyw_mondo_relaxed.owl benzo[g]pteridine-2,4(3H,10H)-dione owl:Class CHEBI:37326 biolink:NamedThing benzo[g]pteridine-2,4-dione tmpaxzxjjyw_mondo_relaxed.owl benzo[g]pteridine-2,4-dione owl:Class UBERON:0001976 biolink:NamedThing epithelium of esophagus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003350 biolink:NamedThing epithelium of mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016842 biolink:NamedThing paternal 20q13.2q13.3 microdeletion syndrome Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl paternal monosomy 20q13.2q13.3|paternal 20q13.2-q13.3 microdeletion syndrome|paternal del(20)(q13.2q13.3)|paternal monosomy 20q13.2-q13.3 Orphanet:261304|UMLS:C4510306|ICD10:Q93.5|UMLS:CN202182|SCTID:724070005 owl:Class MONDO:0016918 biolink:NamedThing partial deletion of the long arm of chromosome 20 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 20q|partial deletion of chromosome 20q|partial monosomy of the long arm of chromosome 20|partial deletion of the long arm of chromosome type 20 Orphanet:262164|ICD10:Q93.5 owl:Class CHEBI:33853 biolink:NamedThing phenols Organic aromatic compounds having one or more hydroxy groups attached to a benzene or other arene ring. tmpaxzxjjyw_mondo_relaxed.owl arenols|phenols|Aryl alcohol|a phenol owl:Class CHEBI:33822 biolink:NamedThing organic hydroxy compound An organic compound having at least one hydroxy group attached to a carbon atom. tmpaxzxjjyw_mondo_relaxed.owl organic hydroxy compounds|organic alcohol|hydroxy compounds owl:Class OBO:OBA_0100003 biolink:NamedThing anatomical entity attribute The quality of a anatomical entity. tmpaxzxjjyw_mondo_relaxed.owl quality of anatomical entity owl:Class PATO:0000001 biolink:NamedThing quality A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities tmpaxzxjjyw_mondo_relaxed.owl quality (PATO) owl:Class MONDO:0016036 biolink:NamedThing Ledderhose disease Ledderhose disease is a type of plantar fibromatosis characterized by the growth of hard and round or flattened nodules (lumps) on the soles of the feet. It is generally seen in middle-aged and elderly people, and affects men approximately 10 times more often than it affects women. It typically affects both feet and progresses slowly, but not indefinitely. The nodules are typically painless at first, but may cause pain when walking as they grow. Often, people with Ledderhose disease also have other conditions associated with the formation of excess fibrous connective tissue such as Dupuytren contracture, knuckle pads, or Peyronie disease. Repeated trauma, long-term alcohol consumption, chronic liver disease, diabetes, and epilepsy have also been reported in association with this condition. The exact cause of Ledderhose disease is not known, but heredity is thought to play a role in many cases. Treatment, if needed, involves conservative management, steroid injections, radiotherapy, and surgery (plantar facia removal (fasciectomy) and surgical removal of of the fibrous tissue. The condition has a good prognosis, although slow progression is not uncommon. Fasciectomy has been shown to reduce the rate of recurrences. tmpaxzxjjyw_mondo_relaxed.owl Lederhose disease|plantar fibromatosis MESH:C537000|GARD:0006873|MedDRA:10035154|ICD10:M72.2|Orphanet:199251 https://rarediseases.info.nih.gov/diseases/6873/ledderhose-disease owl:Class MONDO:0016037 biolink:NamedThing superficial Fibromatosis A poorly circumscribed, intermediate fibrocytic neoplasm arising from the superficial soft tissues. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. tmpaxzxjjyw_mondo_relaxed.owl superficial Fibromatosis ICD9:729.99|UMLS:C0406571|EFO:1000556|NCIT:C6814|ICD10:M72.8|Orphanet:199257|SCTID:238853007 owl:Class MONDO:0001929 biolink:NamedThing ascending cholangitis Acute infection of the bile ducts caused by bacteria ascending from the small intestine. tmpaxzxjjyw_mondo_relaxed.owl ascending cholangitis SCTID:26918003|UMLS:C0311273|DOID:14270|NCIT:C35372|ICD10:K83.0 owl:Class HGNC:10910 biolink:NamedThing SLC12A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004808 biolink:NamedThing benign mammary dysplasia tmpaxzxjjyw_mondo_relaxed.owl benign dysplasia of breast|benign mammary dysplasia DOID:9504|SCTID:57993004|ICD9:610.8|ICD9:610.9 Editor note: NCIT treats dysplasia as a finding. Also as distinct from neoplasia owl:Class MONDO:0010305 biolink:NamedThing creatine transporter deficiency X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked, with creatine transport deficiency|creatine transporter deficiency|X-linked creatine deficiency syndrome|mental retardation, X-linked, with creatine transport deficiency|intellectual disability, X-linked, with seizures, short stature, and midface hypoplasia|creatine deficiency syndrome, X-linked|X-linked creatine deficiency|cerebral creatine deficiency syndrome type 1|cerebral creatine deficiency syndrome 1|creatine deficiency, X-linked|SLC6A8 deficiency|X-linked creatine transporter deficiency|CCDS1|mental retardation, X-linked with seizures, short stature and midface hypoplasia|creatine transporter defect|intellectual disability, X-linked, with creatine Transport deficiency|mental retardation, X-linked, with seizures, short stature, and midface hypoplasia|intellectual disability, X-linked with seizures, short stature and midface hypoplasia|mental retardation, X-linked, with creatine Transport deficiency NCIT:C125665|ICD9:758.81|SCTID:698290008|OMIM:300352|DOID:0050800|Orphanet:52503|GARD:0001608|MESH:C535598|ICD10:E72.8 owl:Class MONDO:0015327 biolink:NamedThing developmental anomaly of metabolic origin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:139009 owl:Class MONDO:0016441 biolink:NamedThing acquired pseudoxanthoma elasticum A nonheritable form of pseudoxanthoma elasticum (PXE), lacking the retinal and vascular stigmata associated with the inherited form of the disorder, but having skin lesions that are clinically, histologically, and ultrastructurally similar to those seen in the inherited type. tmpaxzxjjyw_mondo_relaxed.owl acquired Gronblad-Strandberg-Touraine syndrome|localized acquired cutaneous pseudoxanthoma elasticum|acquired pseudoxanthoma elasticum (inherited or acquired)|acquired PXE|acquired pseudoxanthoma elasticum Orphanet:228247|SCTID:403401007|UMLS:C1274759|ICD9:757.39 owl:Class MONDO:0024308 biolink:NamedThing pseudoxanthoma elasticum (inherited or acquired) An inherited disorder that causes calcium and other minerals to accumulate in the elastic fibers of the skin, eyes, and blood vessels, and less frequently in other areas such as the digestive tract. tmpaxzxjjyw_mondo_relaxed.owl PXE|pseudoxanthoma elasticum ICD9:757.39|SCTID:252246005 https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum owl:Class GO:0042635 biolink:NamedThing positive regulation of hair cycle Any process that activates or increases the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. tmpaxzxjjyw_mondo_relaxed.owl upregulation of hair cycle|stimulation of hair cycle|up regulation of hair cycle|activation of hair cycle|up-regulation of hair cycle owl:Class UBERON:0005034 biolink:NamedThing mucosa of right main bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009657 biolink:NamedThing artery of lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0007360 biolink:NamedThing Aplasia/Hypoplasia of the cerebellum tmpaxzxjjyw_mondo_relaxed.owl Absent/underdeveloped cerebellum|Absent/small cerebellum|Atrophy/Hypoplasia of the cerebellum|Cerebellar hypoplasia/atrophy|Atrophy/Degeneration affecting the cerebellum UMLS:C3279222 peter 2008-03-31T05:30:00Z HP:0006857|HP:0007368 human_phenotype owl:Class HP:0001317 biolink:NamedThing Abnormal cerebellum morphology Any structural abnormality of the cerebellum. tmpaxzxjjyw_mondo_relaxed.owl Cerebellar abnormalities|Abnormality of the cerebellum|Cerebellar signs|Cerebellar abnormality|Cerebellar anomaly UMLS:C1866129|UMLS:C0742038 A malformed cerebellum may be abnormally small, dysplastic, or unusually large. The vermis and both hemispheres may be equally or disproportionately affected. Primary malformations of the pons, midbrain, and supratentorial structures are also seen in a substantial subset of patients. The wide range in morphological presentations results from the diversity of causes, including chromosomal abnormalities, specific genetic syndromes, and extrinsic factors. human_phenotype owl:Class HGNC:10975 biolink:NamedThing SLC24A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013839 biolink:NamedThing hereditary sensory and autonomic neuropathy type 6 Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene. tmpaxzxjjyw_mondo_relaxed.owl neuropathy, hereditary sensory and autonomic, type 6|DST hereditary sensory and autonomic neuropathy|HSAN 6|hereditary sensory and autonomic neuropathy type VI|HSAN6|familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy caused by mutation in DST|neuropathy, hereditary sensory and autonomic, type VI Orphanet:314381|UMLS:C3539003|OMIM:614653|ICD10:G60.8|DOID:0070151 owl:Class MONDO:0015366 biolink:NamedThing autosomal recessive hereditary sensory and autonomic neuropathy Autosomal recessive form of hereditary sensory and autonomic neuropathy. tmpaxzxjjyw_mondo_relaxed.owl hereditary sensory and autonomic neuropathy, autosomal recessive UMLS:CN228933|ICD10:G60.8|Orphanet:140477 owl:Class MONDO:0017900 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibily to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 2 (IFN-gammaR2) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR2, leading to an undetectable response to IFN-gamma, and consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). tmpaxzxjjyw_mondo_relaxed.owl MSMD due to complete IFNgammaR2 deficiency|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency|MSMD due to complete interferon gamma receptor 2 deficiency|IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR2 ICD10:D84.8|Orphanet:319547|OMIM:614889|UMLS:CN203956 owl:Class MONDO:0020590 biolink:NamedThing mycobacterial infectious disease Infection due to organisms from the genus Mycobacteria. tmpaxzxjjyw_mondo_relaxed.owl mycobacterial infection|mycobacterium infection|mycobacteriosis UMLS:C0026918|MESH:D009164|NCIT:C26831|SCTID:88415009 owl:Class GO:0051782 biolink:NamedThing negative regulation of cell division Any process that stops, prevents, or reduces the frequency, rate or extent of cell division. tmpaxzxjjyw_mondo_relaxed.owl downregulation of cell division|down regulation of cell division|down-regulation of cell division|inhibition of cell division owl:Class MONDO:0003028 biolink:NamedThing thyroid sarcoma A malignant soft tissue neoplasm primarily involving the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of thyroid gland|sarcoma of the thyroid gland|thyroid sarcoma|thyroid gland sarcoma|sarcoma of thyroid|sarcoma of the thyroid DOID:4515|UMLS:C1336756|NCIT:C6041|EFO:1001971 owl:Class MONDO:0005328 biolink:NamedThing eye disorder A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. tmpaxzxjjyw_mondo_relaxed.owl eyeball of camera-type eye disease or disorder|disease of eye|disorder of eye proper|disease of eyeball|disease or disorder of eyeball of camera-type eye|eyeball of camera-type eye disease|disease of eyeball of camera-type eye|disorder of eye|disorder of eyeball|eye disease|disorder of globe|disorder of eyeball of camera-type eye|eye disorder ICD9:360|DOID:5614|SCTID:371409005|ICD9:379.90|UMLS:C0015397|NCIT:C26767|ICD9:379.8|ICD10:H44.9|MESH:D005128|ICD10:H44|SCTID:371405004|EFO:0003966|ICD9:360.89|ICD9:360.9 owl:Class GO:0035305 biolink:NamedThing negative regulation of dephosphorylation Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule. tmpaxzxjjyw_mondo_relaxed.owl inhibition of dephosphorylation|down regulation of dephosphorylation|downregulation of dephosphorylation|down-regulation of dephosphorylation owl:Class NCBITaxon:9604 biolink:NamedThing Hominidae tmpaxzxjjyw_mondo_relaxed.owl great apes|Pongidae GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:314295 biolink:NamedThing Hominoidea tmpaxzxjjyw_mondo_relaxed.owl apes|ape GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004521 biolink:NamedThing vasculature of muscle organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010644 biolink:NamedThing proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis tmpaxzxjjyw_mondo_relaxed.owl proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis UMLS:C1839874|Orphanet:1652|Orphanet:93622|OMIM:308990 Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact proteinuria is sometimes a feature of dent disease. We capture this separately in annotations owl:Class MONDO:0003634 biolink:NamedThing proteinuria The presence of abnormal amounts of protein in the urine. tmpaxzxjjyw_mondo_relaxed.owl DOID:576|ICD9:791.0|NCIT:C38012|MESH:D011507|ICD10:R80|ICD10:R80.9 Consider obsoleting / use HPO owl:Class GO:0044271 biolink:NamedThing cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. tmpaxzxjjyw_mondo_relaxed.owl nitrogen compound anabolism|nitrogen compound biosynthesis|nitrogen compound synthesis|nitrogen compound formation owl:Class GO:0034641 biolink:NamedThing cellular nitrogen compound metabolic process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl cellular nitrogen compound metabolism owl:Class CL:0000019 biolink:NamedThing sperm A mature male germ cell that develops from a spermatid. tmpaxzxjjyw_mondo_relaxed.owl spermatozoon|sperm cell|spermatozoid BTO:0002046|BTO:0001277|FBbt:00004954|CALOHA:TS-0949|FMA:67338|WBbt:0006798 cell owl:Class CL:0000408 biolink:NamedThing male gamete tmpaxzxjjyw_mondo_relaxed.owl BTO:0001277|CALOHA:TS-0949 cell owl:Class UBERON:0000313 biolink:NamedThing portion of cartilage tissue in tibia tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051254 biolink:NamedThing positive regulation of RNA metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving RNA. tmpaxzxjjyw_mondo_relaxed.owl upregulation of RNA metabolic process|up regulation of RNA metabolic process|up-regulation of RNA metabolic process|activation of RNA metabolic process|positive regulation of RNA metabolism|stimulation of RNA metabolic process owl:Class MONDO:0014421 biolink:NamedThing glucocorticoid resistance tmpaxzxjjyw_mondo_relaxed.owl Gcr deficiency|Grl deficiency|glucocorticoid receptor deficiency|GCCR|cortisol resistance from glucocorticoid receptor defect|glucocorticoid resistance, generalized|Gccr deficiency Orphanet:786|GARD:0002499|ICD10:E25.8|MESH:C564221|OMIM:615962|UMLS:C1841972 https://rarediseases.info.nih.gov/diseases/2499/glucocorticoid-resistance owl:Class MONDO:0002525 biolink:NamedThing inherited lipid metabolism disorder An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. tmpaxzxjjyw_mondo_relaxed.owl disorder of lipid metabolism|lipid metabolism disorder|fatty acid metabolism disorder|dyslipidemia ICD9:272.8|MedDRA:10061227|NCIT:C97092|Orphanet:309005|UMLS:C0154251|SCTID:267431006|ICD9:272.9|DOID:3146 owl:Class MONDO:0004481 biolink:NamedThing pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma A pancreatic intraductal papillary mucinous neoplasm characterized by the presence of a focal or multifocal invasive carcinomatous component. The invasive carcinoma is either colloid or ductal adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl pancreatic invasive intraductal papillary-mucinous carcinoma|pancreatic intraductal papillary mucinous neoplasm with an associated invasive carcinoma|pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma NCIT:C5726|ICDO:8453/3|UMLS:C1518871|DOID:8150 owl:Class MONDO:0004285 biolink:NamedThing pancreatic intraductal papillary-mucinous carcinoma A malignant glandular neoplasm arising from the exocrine pancreas. Microscopically it is characterized by the presence of mucoid stroma formation, papillary patterns, and cystic changes. It has been associated with KRAS and Tp53 gene mutations. tmpaxzxjjyw_mondo_relaxed.owl pancreatic intraductal papillary-mucinous carcinoma|intraductal papillary-colloid carcinoma of the pancreas|pancreatic intraductal papillary-colloid carcinoma|intraductal papillary-colloid carcinoma of pancreas|intraductal papillary mucinous carcinoma of pancreas|pancreatic intraductal papillary-colloidal carcinoma|intraductal papillary-colloidal carcinoma of pancreas|pancreatic intraductal papillary mucinous carcinoma|intraductal papillary-mucinous carcinoma of pancreas|intraductal papillary-colloidal carcinoma of the pancreas|intraductal papillary-mucinous carcinoma of the pancreas ICD10:C25.3|NCIT:C5725|Orphanet:424058|DOID:7574|UMLS:C1335304 owl:Class UBERON:0003478 biolink:NamedThing vein of lower lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001638 biolink:NamedThing vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013417 biolink:NamedThing complement component 3 deficiency A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease. tmpaxzxjjyw_mondo_relaxed.owl complement component 3 deficiency, autosomal recessive|C3 deficiency|C3d|classic complement early component deficiency caused by mutation in C3|C3 classic complement early component deficiency|C3 deficiency, autosomal recessive UMLS:C3151071|UMLS:C1332655|DOID:8354|ICD10:D84.1|Orphanet:280133|MESH:C565169|OMIM:613779|NCIT:C9468 owl:Class HGNC:9483 biolink:NamedThing PRSS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003678 biolink:NamedThing silent myocardial infarction A history of myocardial infarction in the absence of clinical symptoms and positive electrocardiographic findings. tmpaxzxjjyw_mondo_relaxed.owl silent myocardial infarction NCIT:C35400|UMLS:C0340324|DOID:5854|SCTID:233843008 owl:Class MONDO:0009342 biolink:NamedThing Hirschsprung disease-hearing loss-polydactyly syndrome An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. tmpaxzxjjyw_mondo_relaxed.owl Hirschsprung disease, deafness and polydactyly|Hirschsprung disease with polydactyly, renal agenesis, and deafness|Santos Mateus Leal syndrome|Santos-Mateus-Leal syndrome|Hirschsprung disease-deafness-polydactyly syndrome|Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness Orphanet:2155|MESH:C565518|OMIM:235740|GARD:0000157|SCTID:721221000|ICD10:Q43.1 https://github.com/monarch-initiative/mondo/issues/551 owl:Class MONDO:0004253 biolink:NamedThing intraductal breast papillomatosis A benign breast neoplasm characterized by the proliferation of multiple papillomas within the lumen of the ducts. tmpaxzxjjyw_mondo_relaxed.owl intraductal papillomatosis of the breast|intraductal papillomatosis of breast|breast intraductal papillomatosis|intraductal breast papillomatosis NCIT:C5201|DOID:7511|UMLS:C1334247 owl:Class MONDO:0002060 biolink:NamedThing intraductal papilloma An intraluminal papillary epithelial neoplasm arising within the ducts. Representative examples are the intraductal breast papilloma and the salivary gland intraductal papilloma. tmpaxzxjjyw_mondo_relaxed.owl duct adenoma|ductal papilloma|intraductal papilloma|duct papilloma|intraductal papilloma (morphologic abnormality) DOID:1627|ICDO:8503/0|NCIT:C3785|MESH:D018300|UMLS:C0206713 owl:Class MONDO:0017341 biolink:NamedThing virus associated tumor tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203003|Orphanet:289635 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0010081 biolink:NamedThing subaortic stenosis, membranous tmpaxzxjjyw_mondo_relaxed.owl subaortic stenosis, membranous MESH:C564793|Orphanet:99051|Orphanet:3092|OMIM:271950 owl:Class MONDO:0020392 biolink:NamedThing discrete fixed membranous subaortic stenosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99051|OMIM:271950|ICD10:Q24.4 owl:Class MONDO:0022938 biolink:NamedThing deafness goiter stippled epiphyses tmpaxzxjjyw_mondo_relaxed.owl GARD:0001689 https://rarediseases.info.nih.gov/diseases/1689/deafness-goiter-stippled-epiphyses owl:Class GO:0016811 biolink:NamedThing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a linear amide. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022070 biolink:NamedThing Cantu sanchez-corona hernandez syndrome Mild mental deficiency, short stature, macrocranium, cardiac anomalies, cutis laxa, peculiar facies, wrinkled palms and soles, small vertebral bodies tmpaxzxjjyw_mondo_relaxed.owl GARD:0001083 https://rarediseases.info.nih.gov/diseases/1083/cantu-sanchez-corona-hernandez-syndrome owl:Class MONDO:0001633 biolink:NamedThing central retinal artery occlusion Blockage of the central retinal artery. tmpaxzxjjyw_mondo_relaxed.owl central retinal arterial occlusion DOID:13098|ICD10:H34.1|MESH:D015356|SCTID:38742007|UMLS:C0007688|ICD9:362.31|NCIT:C34456 owl:Class MONDO:0020673 biolink:NamedThing arterial occlusion Complete closure of the normally patent lumen of the blood vessels which carry blood away from the heart. tmpaxzxjjyw_mondo_relaxed.owl arterial occlusion|arterial obstruction NCIT:C35318 owl:Class MONDO:0006774 biolink:NamedThing habitual spontaneous abortion Three or more consecutive spontaneous abortions. tmpaxzxjjyw_mondo_relaxed.owl SCTID:102878001|MedDRA:10062935|ICD10:N96|MESH:D000026|EFO:1000954 owl:Class MONDO:0005039 biolink:NamedThing reproductive system disorder A disease involving the reproductive system. tmpaxzxjjyw_mondo_relaxed.owl reproductive system disease|disease or disorder of reproductive system|reproductive system disorder|reproductive disease|genital disorders|genital system disease|disorder of reproductive system|disease of reproductive system|reproductive system disease or disorder DOID:15|EFO:0000512|UMLS:C0178829|SCTID:362968007|NCIT:C4875|Wikipedia:Reproductive_system_disease owl:Class HGNC:103 biolink:NamedThing CNNM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000744 biolink:NamedThing lung abscess A bacterial, fungal or parasitic abscess that develops in the lung parenchyma. Causes include aspiration pneumonia, necrotizing pneumonia, necrotizing malignant tumors, and Wegener's granulomatosis. tmpaxzxjjyw_mondo_relaxed.owl lung abscess (disease)|lung abscess lung abscess (disease) NCIT:C99090|ICD10:J85.2|HP:0025044|SCTID:73452002|EFO:1001362|MESH:D008169|ICD9:513.0|UMLS:C0024110|DOID:0060317 owl:Class MONDO:0005227 biolink:NamedThing abscess An inflammatory process characterized by the accumulation of pus within a newly formed tissue cavity which is the result of a bacterial, fungal, or parasitic infection or the presence of a foreign body. tmpaxzxjjyw_mondo_relaxed.owl abscess (disease) abscess (disease) UMLS:C0000833|ICD9:682.9|SCTID:128477000|Wikipedia:Abscess|ICD9:682.8|EFO:0003030|MESH:D000038|NCIT:C26686 owl:Class CL:0000168 biolink:NamedThing insulin secreting cell tmpaxzxjjyw_mondo_relaxed.owl BTO:0000783 cell owl:Class MONDO:0018868 biolink:NamedThing metachromatic leukodystrophy A rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function. tmpaxzxjjyw_mondo_relaxed.owl sulfatide lipoidosis|deficiency of cerebroside-sulfatase|Scholz cerebral sclerosis|arylsulfatase A deficiency|MLD MedDRA:10067609|ICD10:E75.2|OMIM:156310|OMIM:250100|NCIT:C61251|SCTID:66521008|Orphanet:512|ICD10:E75.29|OMIM:249900|ICD10:E75.25|UMLS:C0023522|DOID:10581|MESH:D007966 owl:Class GO:0014050 biolink:NamedThing negative regulation of glutamate secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of glutamate. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of glutamate secretion|downregulation of glutamate secretion|down regulation of glutamate secretion|inhibition of glutamate secretion owl:Class GO:0014048 biolink:NamedThing regulation of glutamate secretion Any process that modulates the frequency, rate or extent of the controlled release of glutamate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045765 biolink:NamedThing regulation of angiogenesis Any process that modulates the frequency, rate or extent of angiogenesis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025412 biolink:NamedThing feline panleukopenia A highly contagious dna virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by feline panleukopenia virus or the closely related mink enteritis virus or canine parvovirus. tmpaxzxjjyw_mondo_relaxed.owl Cat plague|agranulocytoses, Feline|Panleukopenias, Feline|Feline distemper|Feline Ataxias|show fever|fever, show|distempers, Feline|infectious Enteritides, Feline|Cat Plagues|fevers, show|Panleukopenia, Feline|show fevers|enteritides, Feline infectious|plague, Cat|Feline Distempers|Feline Agranulocytoses|Feline ataxia|Feline infectious Enteritides|distemper, Feline|infectious enteritis, Feline|Feline Panleukopenias|enteritis, Feline infectious|agranulocytosis, Feline|ataxia, Feline|Feline agranulocytosis|plagues, Cat|Feline infectious enteritis|ataxias, Feline UMLS:C0015765|MESH:D005254 owl:Class MONDO:0025371 biolink:NamedThing Parvoviridae infectious disease Virus infections caused by the parvoviridae. tmpaxzxjjyw_mondo_relaxed.owl disease due to Parvoviridae|Parvoviridae infection|disease caused by Parvoviridae|infection, Parvoviridae|infections, Parvoviridae|infection, Parvovirus|Parvoviridae caused disease or disorder|infections, Parvovirus|Parvovirus infections|Parvovirus infection|Parvoviridae disease or disorder SCTID:83223005|MESH:D010322|ICD9:078.89 owl:Class UBERON:0000125 biolink:NamedThing neural nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006652 biolink:NamedThing anterolateral myocardial infarction Myocardial infarction in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction. tmpaxzxjjyw_mondo_relaxed.owl acute anterior wall myocardial infarction|infarction, anterolateral myocardial|anteroseptal myocardial infarctions|myocardial infarction, anteroseptal|anterolateral myocardial infarction|myocardial infarctions, anteroseptal|infarctions, anterolateral myocardial|infarctions, anteroseptal myocardial|myocardial infarctions, anterolateral|infarction, anteroseptal myocardial|myocardial infarction, anterolateral|anterolateral myocardial infarctions|anteroseptal myocardial infarction|myocardial infarction, anterior wall EFO:1000812|MedDRA:10068109|MESH:D056988|DOID:5845|UMLS:C0262564 Editor note: todo - create uberon class owl:Class UBERON:0001886 biolink:NamedThing choroid plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005629 biolink:NamedThing vascular plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008156 biolink:NamedThing autosomal dominant osteopetrosis 2 A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates). tmpaxzxjjyw_mondo_relaxed.owl marble bones, autosomal dominant|autosomal dominant osteopetrosis type II|Albers-Schönberg osteopetrosis|osteopetrosis, autosomal dominant 2|OPTA2|Albers-Schonberg disease, autosomal dominant|Albers-Schonberg osteopetrosis|autosomal dominant Albers-Schonberg disease|osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type 2|autosomal dominant osteopetrosis type 2|osteosclerosis Fragilis generalisata|osteopetrosis, autosomal dominant type 2 ICD10:Q78.2|DOID:0110938|UMLS:C3179239|SCTID:725050005|Orphanet:53|GARD:0000383|OMIM:166600 owl:Class MONDO:0020645 biolink:NamedThing autosomal dominant osteopetrosis Autosomal dominant form of osteopetrosis (disease). tmpaxzxjjyw_mondo_relaxed.owl osteopetrosis (disease), autosomal dominant|OPTA|autosomal dominant osteopetrosis (disease) OMIMPS:607634|UMLS:C4272579 owl:Class MONDO:0011768 biolink:NamedThing myasthenia gravis with thymus hyperplasia tmpaxzxjjyw_mondo_relaxed.owl myasthenia gravis with thymus hyperplasia|Myas1 OMIM:607085|Orphanet:589|MESH:C564628|UMLS:C1846838 owl:Class MONDO:0009688 biolink:NamedThing myasthenia gravis Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles. tmpaxzxjjyw_mondo_relaxed.owl MG|autoimmune myasthenia gravis|acquired myasthenia|myasthenia gravis ICD10:G70.0|OMIM:159400|EFO:0004991|DOID:437|MedDRA:10028417|OMIM:607085|ICD9:358.00|GARD:0007122|NCIT:C60989|MESH:D009157|ICD9:358.0|UMLS:C0026896|Orphanet:589|SCTID:91637004|OMIM:254200|ICD10:G70.00 https://rarediseases.info.nih.gov/diseases/7122/myasthenia-gravis owl:Class MONDO:0000082 biolink:NamedThing pelvic organ prolapse Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, dyspareunia; urinary stress incontinence; and fecal incontinence. tmpaxzxjjyw_mondo_relaxed.owl SCTID:237113009|EFO:0004710|MESH:D056887|UMLS:C0877015 Text of OMIM 613088 points to OMIM 176780 for disease description. owl:Class GO:0043011 biolink:NamedThing myeloid dendritic cell differentiation The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001773 biolink:NamedThing myeloid dendritic cell activation The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7176 biolink:NamedThing MMP9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0090317 biolink:NamedThing negative regulation of intracellular protein transport Any process that decreases the frequency, rate or extent of the directed movement of proteins within cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032387 biolink:NamedThing negative regulation of intracellular transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances within cells. tmpaxzxjjyw_mondo_relaxed.owl inhibition of intracellular transport|down regulation of intracellular transport|downregulation of intracellular transport|down-regulation of intracellular transport owl:Class GO:0043086 biolink:NamedThing negative regulation of catalytic activity Any process that stops or reduces the activity of an enzyme. tmpaxzxjjyw_mondo_relaxed.owl inhibition of enzyme activity|down-regulation of enzyme activity|downregulation of enzyme activity|down-regulation of metalloenzyme activity|downregulation of metalloenzyme activity|down regulation of metalloenzyme activity|negative regulation of metalloenzyme activity|inhibition of metalloenzyme activity|down regulation of enzyme activity|negative regulation of enzyme activity owl:Class GO:0050790 biolink:NamedThing regulation of catalytic activity Any process that modulates the activity of an enzyme. tmpaxzxjjyw_mondo_relaxed.owl regulation of metalloenzyme activity|regulation of enzyme activity owl:Class GO:0051100 biolink:NamedThing negative regulation of binding Any process that stops or reduces the rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule. tmpaxzxjjyw_mondo_relaxed.owl inhibition of binding|down-regulation of binding|downregulation of binding|down regulation of binding owl:Class HP:0012823 biolink:NamedThing Clinical modifier This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. tmpaxzxjjyw_mondo_relaxed.owl Phenotypic modifier UMLS:C4021064 Note that some of the terms, such as Intellectual disability, have children terms such as Severe intellectual disability that represent precomposed combinations of modifiers and phenotypic abnormality terms. This done where the medical community commonly uses these terms with a fixed meaning (for instance, the Intellectual disability terms are used with specific IQ ranges). For computational reasoning, the semantics are intended to be the same as if there was a combination of the phenotype term and the clinical modifier term. peter 2014-06-06T06:34:24Z HP:0000004 human_phenotype owl:Class HP:0000001 biolink:NamedThing All tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0444868 Root of all terms in the Human Phenotype Ontology. human_phenotype owl:Class MONDO:0011008 biolink:NamedThing cleft lip/palate-intestinal malrotation-cardiopathy syndrome Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997. tmpaxzxjjyw_mondo_relaxed.owl cleft LIP/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease|McPherson-Clemens syndrome|cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease|McPherson Clemens syndrome GARD:0003430|ICD10:Q87.8|MESH:C538160|UMLS:C2931750|Orphanet:2001|SCTID:719456001|OMIM:601165 owl:Class GO:0001933 biolink:NamedThing negative regulation of protein phosphorylation Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of protein amino acid phosphorylation|inhibition of protein amino acid phosphorylation|down regulation of protein amino acid phosphorylation|downregulation of protein amino acid phosphorylation|down-regulation of protein amino acid phosphorylation owl:Class GO:0001932 biolink:NamedThing regulation of protein phosphorylation Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. tmpaxzxjjyw_mondo_relaxed.owl regulation of protein amino acid phosphorylation owl:Class MONDO:0005197 biolink:NamedThing thymus neoplasm A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma. tmpaxzxjjyw_mondo_relaxed.owl tumor of thymus|THYMUS|neoplasm of the Thymus|tumor of the Thymus|neoplasm of thymus|thymus tumor|thymus neoplasm (disease)|neoplasm of Thymus|thymic neoplasm|tumor of Thymus|thymic tumor|Thymus neoplasm|Thymus tumor OMIM:274230|Orphanet:100100|NCIT:C3412|ICD9:239.89|SCTID:127231009|ONCOTREE:THYMUS|EFO:0002626|UMLS:C3714644 owl:Class MONDO:0021948 biolink:NamedThing cutaneous tuberculosis tmpaxzxjjyw_mondo_relaxed.owl Skin Tuberculoses|Cutaneous Tuberculosis|tuberculosis cutis|Tuberculosis, Skin|Tuberculosis of skin|Tuberculosis, Cutaneous|tuberculosis of skin|Skin Tuberculosis|cutaneous tuberculosis|Tuberculoses, Skin|tuberculoderma|Cutaneous tuberculosis|Tuberculoses, Cutaneous|Tuberculosis cutis|Cutaneous Tuberculoses|Tuberculoderma SCTID:66986005|EFO:1001443|UMLS:C0041309 owl:Class MONDO:0024295 biolink:NamedThing skin disease caused by bacterial infection Skin diseases caused by bacteria. tmpaxzxjjyw_mondo_relaxed.owl Bacteria skin disease caused by infection|skin disease, bacterial|disease, bacterial skin|bacterial skin disease|Bacteria caused skin disease caused by infection|bacterial skin diseases|diseases, bacterial skin MESH:D017192 owl:Class MONDO:0023165 biolink:NamedThing florid cystic endosalpingiosis of the uterus tmpaxzxjjyw_mondo_relaxed.owl cystic endosalpingiosis of the uterus|intramural florid cystic endosalpingiosis in lower uterine segment of the uterus|intramural florid cystic endosalpingiosis of the uterus|florid cystic endosalpingiosis GARD:0000130|UMLS:C2931410|MESH:C537064 https://rarediseases.info.nih.gov/diseases/130/florid-cystic-endosalpingiosis-of-the-uterus owl:Class MONDO:0002654 biolink:NamedThing uterine disorder A non-neoplastic or neoplastic disorder that affects the uterine corpus or the cervix. Representative examples of non-neoplastic disorders include endometritis and cervicitis. Representative examples of neoplastic disorders include endometrial carcinoma, carcinosarcoma, and cervical carcinoma. tmpaxzxjjyw_mondo_relaxed.owl uterine disease|disorder of uterus|uterus disease or disorder|disease or disorder of uterus|disease of uterus|uterus disease|uterine disorder SCTID:12337004|ICD9:621.8|ICD9:621.9|ICD10:N85.9|DOID:345|UMLS:C0042131|NCIT:C26907|MESH:D014591 owl:Class MONDO:0017867 biolink:NamedThing distal 17p13.1 microdeletion syndrome Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. tmpaxzxjjyw_mondo_relaxed.owl distal del(17)(p13.1) Orphanet:319171|UMLS:CN203914|ICD10:Q93.5 owl:Class UBERON:0001094 biolink:NamedThing sacral vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015436 biolink:NamedThing ring chromosome 20 Ring chromosome 20 syndrome is marked by a characteristic seizure phenotype. Depending on the amount of chromosomal loss and associated mosaicism, ring(20) can be associated with macrocephaly, mild to moderate intellectual deficit, or behavioural problems. In rare cases, brain, kidney or heart malformations may be present. tmpaxzxjjyw_mondo_relaxed.owl chromosome 20 ring|Ring 20|R20|Ring chromosome type 20|Ring chromosome 20 syndrome SCTID:23686004|NCIT:C169001|MESH:C580424|ICD10:Q93.2|Orphanet:1444|ICD9:758.89|GARD:0001334 https://rarediseases.info.nih.gov/diseases/1334/ring-chromosome-20 owl:Class MONDO:0005027 biolink:NamedThing epilepsy A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. tmpaxzxjjyw_mondo_relaxed.owl seizure disorder|epilepsy ICD10:G40.9|ICD9:345.80|ICD9:345.90|NIFSTD:birnlex_12718|MESH:D004827|ICD10:G40|NCIT:C3020|ICD9:345|EFO:0000474|ICD10:G40.909|ICD9:345.9|ICD9:345.91|ICD9:345.8|DOID:1826|SCTID:84757009 owl:Class NCBITaxon:197562 biolink:NamedThing Pancrustacea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:10874751|PMID:11557979 ncbi_taxonomy owl:Class NCBITaxon:197563 biolink:NamedThing Mandibulata tmpaxzxjjyw_mondo_relaxed.owl mandibulates PMID:11557979|PMID:9727836|GC_ID:1 ncbi_taxonomy owl:Class GO:0045578 biolink:NamedThing negative regulation of B cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of B cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl inhibition of B cell differentiation|down regulation of B cell differentiation|down-regulation of B cell differentiation|negative regulation of B-cell differentiation|downregulation of B cell differentiation|negative regulation of B-lymphocyte differentiation|negative regulation of B cell development|negative regulation of B lymphocyte differentiation owl:Class GO:0050869 biolink:NamedThing negative regulation of B cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of B cell activation|inhibition of B cell activation|downregulation of B cell activation|negative regulation of B-lymphocyte activation|negative regulation of B-cell activation|down-regulation of B cell activation|negative regulation of B lymphocyte activation owl:Class MONDO:0100225 biolink:NamedThing collagen 6-related myopathy A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other. tmpaxzxjjyw_mondo_relaxed.owl collagen VI-related myopathy|collagen VI-related muscular dystrophy|collagen 6-related myopathy|collagen VI-related muscle disorder http://orcid.org/0000-0001-5208-3432 owl:Class GO:0048639 biolink:NamedThing positive regulation of developmental growth Any process that activates, maintains or increases the rate of developmental growth. tmpaxzxjjyw_mondo_relaxed.owl upregulation of developmental growth|activation of developmental growth|up-regulation of developmental growth|stimulation of developmental growth|up regulation of developmental growth owl:Class MONDO:0012142 biolink:NamedThing orofacial cleft 5 Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene. tmpaxzxjjyw_mondo_relaxed.owl cleft lip with or without cleft palate, nonsyndromic, 5|MSX1 orofacial cleft|OFC5|orofacial cleft 5|orofacial cleft caused by mutation in MSX1|orofacial cleft type 5 Orphanet:1991|MESH:C563843|UMLS:C1837210|DOID:0080399|OMIM:608874 owl:Class MONDO:0015420 biolink:NamedThing cleft lip and alveolus Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees. tmpaxzxjjyw_mondo_relaxed.owl OMIM:608874|OMIM:119530|ICD9:525.8|ICD10:Q36.1|OMIM:612858|OMIM:602966|ICD10:Q36.0|OMIM:129400|Orphanet:141291|ICD10:Q36.9|OMIM:608371|OMIM:225060|SCTID:373643003|OMIM:610361|OMIM:600757 owl:Class MONDO:0009737 biolink:NamedThing galactosialidosis A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. tmpaxzxjjyw_mondo_relaxed.owl cathepsin A deficiency|protective Protein/Cathepsin a deficiency|neuraminidase/Beta-galactosidase expression|Goldberg syndrome|lysosomal protective protein deficiency of|galactosialidosis|neuraminidase deficiency with beta-galactosidase deficiency|cathepsin A deficiency of|GSL|PPCA deficiency|lysosomal protective Protein deficiency ICD10:E77.1|Orphanet:351|NCIT:C129928|GARD:0003953|MESH:C536411|OMIM:256540|ICD9:277.6|DOID:0080540|SCTID:35691006|UMLS:C0268233 https://rarediseases.info.nih.gov/diseases/3953/galactosialidosis owl:Class MONDO:0020279 biolink:NamedThing metabolic disease with corneal opacity tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN207082|Orphanet:98711 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class HGNC:8646 biolink:NamedThing PCBD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021660 biolink:NamedThing deep seated dermatophytosis A deep folliculitis due to a cutaneous dermatophyte infection, usually on the legs. It is most commonly caused by trichophyton rubrum and is characterized by the formation of spongy granulomas which persist for three to four months and leaves deep scars. tmpaxzxjjyw_mondo_relaxed.owl deep seated dermatophytosis NCIT:C35073|UMLS:C1395264 owl:Class MONDO:0021201 biolink:NamedThing skin infection An inflammatory process affecting the skin, caused by bacteria, viruses, parasites, or fungi. Examples of bacterial infection include carbuncles, furuncles, impetigo, erysipelas, and abscesses. Examples of viral infection include shingles, warts, molluscum contagiosum, and pityriasis rosea. Examples of parasitic infection include scabies and lice. Examples of fungal infection include athlete's foot, yeast infection, and ringworm. tmpaxzxjjyw_mondo_relaxed.owl skin infection UMLS:C0037278|SCTID:19824006|NCIT:C35025 owl:Class MONDO:0015486 biolink:NamedThing keratoconus A degenerative, structural disorder of the eye, characterized by a cone-shaped protrusion of the cornea. It may lead to visual disturbances. tmpaxzxjjyw_mondo_relaxed.owl isolated keratoconus|conical cornea|KC|keratoconus (disease)|keratoconus|noninflammatory corneal thining keratoconus (disease) OMIM:614628|ICD10:H18.6|MESH:D007640|Orphanet:156071|DOID:10126|ICD9:371.6|OMIMPS:148300|OMIM:148300|HP:0000563|UMLS:C0022578|OMIM:614622|OMIM:614623|MedDRA:10023353|GARD:0006824|OMIM:608586|ICD10:H18.60|ICD9:371.60|OMIM:608932|SCTID:65636009|OMIM:614629|Orphanet:2335|NCIT:C26806|OMIM:609271 owl:Class HGNC:735 biolink:NamedThing ASAH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009411 biolink:NamedThing response to UV Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. tmpaxzxjjyw_mondo_relaxed.owl response to UV light stimulus|response to ultraviolet light stimulus|response to ultraviolet radiation stimulus|response to UV radiation stimulus owl:Class GO:0009416 biolink:NamedThing response to light stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010212 biolink:NamedThing laryngeal apparatus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034921 biolink:NamedThing multi organ part structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3334 biolink:NamedThing EMP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013994 biolink:NamedThing Joubert syndrome 20 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM231 gene. tmpaxzxjjyw_mondo_relaxed.owl JBTS20|Joubert syndrome 20|Joubert syndrome type 20|Joubert syndrome caused by mutation in TMEM231|TMEM231 Joubert syndrome Orphanet:220493|UMLS:C3554235|Orphanet:475|OMIM:614970|DOID:0110989 owl:Class MONDO:0022410 biolink:NamedThing retinal ciliopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156165 owl:Class MONDO:0015228 biolink:NamedThing pentasomy X Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX). tmpaxzxjjyw_mondo_relaxed.owl chromosome XXXXX syndrome|chromosome X pentasomy|penta X syndrome|Pentasomy type X|XXXXX syndrome|Pentasomy X syndrome|penta-X|penta-X syndrome|49, XXXXX syndrome|49,XXXXX syndrome|poly-X GARD:0005678|ICD10:Q97.1|SCTID:43248007|UMLS:C0265497|Orphanet:11|MESH:C535319|NCIT:C89802 owl:Class MONDO:0017002 biolink:NamedThing polysomy of X chromosome tmpaxzxjjyw_mondo_relaxed.owl 2022-04-01 Orphanet:263723 Reason: grouping class. Term to consider: MONDO:0700064 MONDO:0700064 owl:Class HGNC:7029 biolink:NamedThing MET tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009679 biolink:NamedThing arthrogryposis due to muscular dystrophy tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, congenital, producing arthrogryposis|congenital muscular dystrophy producing arthrogryposis GARD:0000779|OMIM:253900|DOID:0110631|ICD10:M62.8|Orphanet:1155|MESH:C564985|UMLS:C1850865 https://rarediseases.info.nih.gov/diseases/779/arthrogryposis-due-to-muscular-dystrophy owl:Class MONDO:0015168 biolink:NamedThing arthrogryposis multiplex congenita Arthrogryposis multiplex congenita (AMC) is a group of disorders characterized by congenital limb contractures. It manifests as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. AMC is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures. tmpaxzxjjyw_mondo_relaxed.owl Guerin-Stern syndrome|Arthromyodysplasia congenita|multiple congenital arthrogryposis|Rossi syndrome|AMC|congenital arthromyodysplasia|Guérin-Stern syndrome|fibrous ankylosis of multiple joints|amyoplasia congenita|arthrogryposis multiplex congenita|congenital amyoplasia|Otto syndrome|myodysplasia|myodystrophia fetalis deformans|rocher-Sheldon syndrome Orphanet:1037|OMIMPS:617468|MedDRA:10051643|GARD:0000777|ICD10:Q74.3 owl:Class MONDO:0017136 biolink:NamedThing omodysplasia Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. tmpaxzxjjyw_mondo_relaxed.owl MESH:C567664|ICD10:Q78.8|OMIMPS:258315|SCTID:725164008|DOID:0060288|OMIM:258315|Orphanet:2733|OMIM:164745|UMLS:C4510897|UMLS:C1850318 owl:Class MONDO:0060714 biolink:NamedThing tumoral calcinosis, hyperphosphatemic, familial, 2 tmpaxzxjjyw_mondo_relaxed.owl HFTC2|tumoral calcinosis, hyperphosphatemic, familial, 2 OMIM:617993 owl:Class GO:0045936 biolink:NamedThing negative regulation of phosphate metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving phosphates. tmpaxzxjjyw_mondo_relaxed.owl inhibition of phosphate metabolic process|downregulation of phosphate metabolic process|down-regulation of phosphate metabolic process|down regulation of phosphate metabolic process|negative regulation of phosphate metabolism owl:Class GO:0010563 biolink:NamedThing negative regulation of phosphorus metabolic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017294 biolink:NamedThing glycerol kinase deficiency, infantile form Infantile glycerol kinase deficiency (GKD) is a severe form of GKD characterized clinically by poor feeding, failure to thrive, salt-wasting dehydration, vomiting, Addisonian pigmentation, hypotonia, and disorders of consciousness. Some patients have complex GKD associated with adrenal hypoplasia congenita and/or Duchenne muscular dystrophy (DMD) with manifestations including intellectual deficit, dysmorphic facial features, abnormal external genitalia, strabismus, seizures, and progressive lethargy. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E74.8|Orphanet:284408|OMIM:307030 owl:Class MONDO:0010613 biolink:NamedThing inborn glycerol kinase deficiency An acquired metabolic disease that is has its basis in the disruption of glycerol kinase activity. tmpaxzxjjyw_mondo_relaxed.owl GK deficiency|GK1 deficiency|inborn glycerol kinase activity disorder|GKD|glycerol kinase deficiency|inborn error of glycerol kinase activity|rare inborn error of glycerol kinase activity|hyperglycerolemia DOID:0060363|Orphanet:308993|SCTID:124322002|Orphanet:408|OMIM:307030 owl:Class MONDO:0013326 biolink:NamedThing Senior-Loken syndrome 7 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. tmpaxzxjjyw_mondo_relaxed.owl SDCCAG8 Senior-Loken syndrome|SENIOR-Loken syndrome 7|Senior-Loken syndrome type 7|Senior-Loken syndrome 7|Senior-Loken syndrome caused by mutation in SDCCAG8|SLSN7 Orphanet:3156|UMLS:C3150877|OMIM:613615 owl:Class UBERON:0000990 biolink:NamedThing reproductive system tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CARO_0000000 biolink:NamedThing anatomical entity tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr3q13.3 biolink:NamedThing 3q13.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 122200000 113700000 hg38 owl:Class MONDO:0008282 biolink:NamedThing polyposis, intestinal, with multiple exostoses tmpaxzxjjyw_mondo_relaxed.owl polyposis, intestinal, with multiple exostoses OMIM:175450|UMLS:C1868005|MESH:C566776 owl:Class HGNC:6259 biolink:NamedThing KCNJ13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007154 biolink:NamedThing arteriovenous malformations of the brain Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures. tmpaxzxjjyw_mondo_relaxed.owl cerebral arteriovenous malformations|intracranial hemorrhage in brain arteriovenous malformations, susceptibility to|intracranial AVM|cerebral arteriovenous malformation|intracranial arteriovenous malformation|Bavm|arteriovenous malformations of the brain UMLS:C0007772|NCIT:C2936|Orphanet:46724|OMIM:108010|DOID:0060688|ICD10:Q28.2|MESH:D002538|GARD:0003020|SCTID:234142008 owl:Class MONDO:0000648 biolink:NamedThing nervous system benign neoplasm Abnormal growth of cells in the nervous system without evidence of malignant characteristics. Unlike other organ systems, tumors in the central nervous system can have benign histological characteristics but still have life threatening effects due to their location within the neuraxis (e.g., brainstem gliomas). tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of nervous system|nervous system benign neoplasm|benign nervous system neoplasm|benign nervous system tumor|nervous system neoplasm, benign|benign tumor of nervous system|benign tumor of the nervous system|benign neoplasm of the nervous system ICD9:225.9|SCTID:92247009|UMLS:C0497550|NCIT:C4789|DOID:0060115|ICD9:225.8 owl:Class GO:0005381 biolink:NamedThing iron ion transmembrane transporter activity Enables the transfer of iron (Fe) ions from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl transmembrane iron permease activity|multicopper ferroxidase iron transport mediator activity|transmembrane iron ion permease activity|iron channel activity|zinc, iron permease activity|iron cation channel activity|iron transporter activity owl:Class GO:0046915 biolink:NamedThing transition metal ion transmembrane transporter activity Enables the transfer of transition metal ions from one side of a membrane to the other. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008803 biolink:NamedThing skin of cheek tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:1000021 biolink:NamedThing skin of face tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032766 biolink:NamedThing hypoalphalipoproteinemia, primary, 2 tmpaxzxjjyw_mondo_relaxed.owl HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2|High Density Lipoprotein Deficiency|Apolipoprotein A-I Deficiency OMIM:618463|Orphanet:425 owl:Class MONDO:0011990 biolink:NamedThing seizures, benign familial neonatal, 3 tmpaxzxjjyw_mondo_relaxed.owl seizures, benign familial neonatal, 3|convulsions, benign familial neonatal, 3|BFNS3 UMLS:C1842382|Orphanet:1949|OMIM:608217|MESH:C564274 owl:Class HGNC:2345 biolink:NamedThing CREB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:51027 biolink:NamedThing Enterobius tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:51026 biolink:NamedThing Oxyuridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016269 biolink:NamedThing high-grade neuroendocrine carcinoma of the corpus uteri High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated. tmpaxzxjjyw_mondo_relaxed.owl poorly differentiated neuroendocrine carcinoma of the corpus uteri|poorly differentiated neuroendocrine carcinoma of the endometrium|high-grade neuroendocrine carcinoma of the uterine corpus UMLS:CN201058|ICD10:C54.1|Orphanet:213731|ICD10:C54.0|ICD10:C54.3|ICD10:C54.2|ICD10:C54.8 owl:Class MONDO:0021069 biolink:NamedThing malignant endocrine neoplasm A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of endocrine gland|neoplasm of endocrine system|endocrine gland cancer|malignant tumor of the endocrine gland|malignant tumour of endocrine gland|cancer of endocrine gland|Endocrine tumor|malignant endocrine tumor|malignant tumor of endocrine gland|endocrine cancer|malignant endocrine gland neoplasm|endocrine neoplasm|malignant endocrine gland tumor|malignant neoplasm of the endocrine gland|endocrine neoplasm, malignant|malignant endocrine neoplasm SCTID:387922007|ICD9:194.9|ICD10:C75.9|MESH:D004701|NCIT:C3010|NCIT:C3575|DOID:170 owl:Class MONDO:0008157 biolink:NamedThing Buschke-Ollendorff syndrome Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin. tmpaxzxjjyw_mondo_relaxed.owl Dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata, isolated|osteopathia condensans disseminata|dermatofibrosis, disseminated with osteopoikilosis|Buschke-Ollendorff syndrome|osteopoikilosis with melorheostosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis|Buschke Ollendorff syndrome|dermatofibrosis, disseminated, with osteopoikilosis|Bos|osteopoikilosis, isolated GARD:0001044|MESH:C537415|Orphanet:1306|Orphanet:166119|ICD10:Q78.8|DOID:0111536|OMIM:166700 owl:Class MONDO:0017198 biolink:NamedThing osteopetrosis Osteopetrosis, also known as marble bone disease, is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. tmpaxzxjjyw_mondo_relaxed.owl marble bone|Albers-Schonberg disease|osteopetrosis|osteopetrosis (disease)|osteosclerosis fragilis|marble bone disease|marble bones|Albers-Schoenberg disease|osteopetrosis and related disorders|osteopetroses osteopetrosis (disease) HP:0011002|DOID:13533|Orphanet:2781|ICD10:Q78.2|MedDRA:10031280|SCTID:367489004|Orphanet:667|ICD9:756.52|SCTID:1926006|NCIT:C26840|GARD:0004155 owl:Class MONDO:0045002 biolink:NamedThing vertebral disorder A disease or disorder that involves the vertebra. tmpaxzxjjyw_mondo_relaxed.owl disorder of vertebra|vertebra disease|disease or disorder of vertebra|disease of vertebra|vertebra disease or disorder UMLS:C2316319|SCTID:430886005 owl:Class MONDO:0000812 biolink:NamedThing vertebral column disorder A disease involving the vertebral column. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of vertebral column|vertebral column disease or disorder|disorder of vertebral column|spinal disease|vertebral column disease|disease of spine|disease of vertebral column ICD9:724.9|DOID:0060564|UMLS:C0037933|SCTID:699699005|MESH:D013122 owl:Class MONDO:0060779 biolink:NamedThing acquired Fanconi syndrome Fanconi Syndrome caused by exposure to noxious agents. tmpaxzxjjyw_mondo_relaxed.owl acquired Fanconi syndrome SCTID:236467001|NCIT:C78296|UMLS:C0341702 owl:Class MONDO:0001083 biolink:NamedThing Fanconi renotubular syndrome A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. tmpaxzxjjyw_mondo_relaxed.owl Fanconi-de-toni syndrome|deToni Fanconi syndrome|Lignac-Fanconi syndrome|infantile nephropathic cystinosis|Fanconi syndrome|De toni-debre-Fanconi syndrome|adult Fanconi syndrome|toni-debre-Fanconi syndrome|De toni-Fanconi syndrome|Fanconi's syndrome|Fanconi-de toni syndrome|congenital Fanconi syndrome UMLS:C0015624|SCTID:40488004|GARD:0009120|DOID:1062|Orphanet:3337|MESH:D005198|NCIT:C3034 adult Fanconi Anemia https://rarediseases.info.nih.gov/diseases/9120/fanconi-syndrome owl:Class MONDO:0040654 biolink:NamedThing autosomal dominant oculocutaneous albinism Autosomal dominant form of oculocutaneous albinism. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant oculocutaneous albinism|oculocutaneous albinism, autosomal dominant SCTID:79417003 owl:Class MONDO:0018910 biolink:NamedThing oculocutaneous albinism Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic oculocutaneous albinism|OCA|albinism, oculocutaneous|non-syndromic oculocutaneous albinism OMIM:615312|OMIM:606574|ICD9:270.2|OMIM:203100|OMIM:606952|DOID:0050632|OMIM:203290|NCIT:C84941|OMIMPS:203100|OMIM:203200|SCTID:63844009|UMLS:C0078918|GARD:0010958|OMIM:614473|ICD10:E70.3|MESH:D016115|Orphanet:55 https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism owl:Class GO:0010032 biolink:NamedThing meiotic chromosome condensation Compaction of chromatin structure prior to meiosis in eukaryotic cells. tmpaxzxjjyw_mondo_relaxed.owl chromosome condensation involved in meiotic cell cycle owl:Class GO:0030261 biolink:NamedThing chromosome condensation The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. tmpaxzxjjyw_mondo_relaxed.owl DNA condensation|nuclear chromosome condensation|eukaryotic chromosome condensation owl:Class MONDO:0001281 biolink:NamedThing alternating exotropia A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction. tmpaxzxjjyw_mondo_relaxed.owl ICD10:H50.15|UMLS:C0152207|ICD9:378.15|DOID:1142|MESH:D005099|SCTID:37214009 owl:Class MONDO:0001286 biolink:NamedThing exotropia A form of strabismus in which the eyes are deviated laterally. tmpaxzxjjyw_mondo_relaxed.owl divergent strabismus|divergent concomitant strabismus ICD10:H50.1|NCIT:C34601|SCTID:399252000|UMLS:C0015310|MESH:D005099|ICD9:378.10|DOID:1143|ICD9:378.1|ICD10:H50.10 owl:Class MONDO:0013626 biolink:NamedThing psoriasis 14, pustular Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene. tmpaxzxjjyw_mondo_relaxed.owl familial generalized pustular psoriasis|palmoplantar pustulosis|PSORP|acrodermatitis continua of Hallopeau|psoriasis 14, pustular|DITRA|generalized pustular psoriasis|deficiency of the interleukin-36 receptor antagonist|PSORS14|IL36RN psoriasis|deficiency of IL-36R antagonist|deficiency of IL-36Ra|psoriasis caused by mutation in IL36RN|GPP|Interleukin 36 receptor antagonist deficiency|acrodermatitis continua suppurativa of Hallopeau GARD:0012819|NCIT:C119057|Orphanet:404546|ICD10:L40.2|DOID:0080474|SCTID:83839005|OMIM:614204|ICD10:L40.1|SCTID:238612002|ICD9:696.1|UMLS:CN199965|Orphanet:163931|Orphanet:247353|UMLS:CN226196|OMIM:616106 https://github.com/monarch-initiative/mondo/issues/2829 owl:Class MONDO:0019268 biolink:NamedThing epidermal disease A skin disease that involves the epidermis. tmpaxzxjjyw_mondo_relaxed.owl epidermal disease|rare epidermal disease Orphanet:79353|UMLS:CN205920 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0023288 biolink:NamedThing green sandford davison syndrome tmpaxzxjjyw_mondo_relaxed.owl renal and anogenital malformations with syndactyly|anal anomalies, renal tract abnormalities, genital malformations, and syndactyly UMLS:C2931777|MESH:C538221|GARD:0002447 https://rarediseases.info.nih.gov/diseases/2447/green-sandford-davison-syndrome owl:Class UBERON:0010690 biolink:NamedThing manual digit 1 epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005227 biolink:NamedThing manual digit epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000112 biolink:NamedThing regulation of cellular macromolecule biosynthetic process Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular biopolymer biosynthetic process|regulation of cellular macromolecule synthesis|regulation of cellular macromolecule anabolism|regulation of cellular macromolecule formation|regulation of cellular macromolecule biosynthesis owl:Class MONDO:0015237 biolink:NamedThing arrhinia Arrhinia is an extremely rare, major congenital malformation consisting of an absence of the nose ranging from hyporrhinia (absence of external nasal structures) to total arrhinia (absence of external nose, nasal airways, olfactory bulbs, or olfactory nerve) often causing respiratory distress and requiring surgical correction. Arrhinia can be bilateral or unilateral (hemiarrhinia). Associated anomalies include ocular features (hypertelorism, microphthalmia, eyelid coloboma), facial clefts, midline defects and microtia. tmpaxzxjjyw_mondo_relaxed.owl isolated nose agenesis|Nose agenesis|Nose agenesia|isolated arrhinia|congenital absence of the nose SCTID:111317000|ICD9:748.1|Orphanet:1134|GARD:0000364|ICD10:Q30.1|MESH:C537438 https://rarediseases.info.nih.gov/diseases/364/arrhinia owl:Class MONDO:0033838 biolink:NamedThing radiation-induced plexopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:521123 owl:Class MONDO:0024432 biolink:NamedThing nerve plexus disorder A disease that involves the nerve plexus. tmpaxzxjjyw_mondo_relaxed.owl disease of nerve plexus|disorder of nerve plexus|disease or disorder of nerve plexus|nerve plexus disease or disorder|nerve plexus disease|nerve plexus disorder|plexopathy SCTID:2231001|NCIT:C27744|DOID:3688|UMLS:C1335437 MONDO:0002733 owl:Class MONDO:0015797 biolink:NamedThing UV-sensitive syndrome UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population. tmpaxzxjjyw_mondo_relaxed.owl UV sensitive syndrome|UVSS DOID:0060240|MESH:C563466|ICD9:702.8|OMIM:600630|OMIM:614621|OMIMPS:600630|OMIM:614640|SCTID:698253007|Orphanet:178338|GARD:0010947 https://rarediseases.info.nih.gov/diseases/10947/uv-sensitive-syndrome owl:Class MONDO:0018787 biolink:NamedThing genetic cerebral small vessel disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:477754|UMLS:CN776941 owl:Class MONDO:0019411 biolink:NamedThing genochondromatosis type 1 Genochondromatosis is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It has been described four patients from the same family and is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. It has been described in one unrelated family. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q78.4|UMLS:C1300229|Orphanet:85197|OMIM:137360 owl:Class HGNC:3084 biolink:NamedThing DVL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014362 biolink:NamedThing chromosome 16 inversion, 0.45-Mb tmpaxzxjjyw_mondo_relaxed.owl chromosome 16 inversion, 0.45-Mb OMIM:615835 owl:Class MONDO:0043678 biolink:NamedThing chromosome inversion A type of chromosome rearrangement in which a segment has been turned through 180 degrees (inverted), and inserted back into its original location on the chromosome. tmpaxzxjjyw_mondo_relaxed.owl chromosomal inversion|Inversions, chromosomal|chromosomal Inversions|inversion, chromosome|inversion|inv|inversion, chromosomal|inverted chromosome|chromosome Inversions|Inversions, chromosome MESH:D007446|NCIT:C6827 owl:Class MONDO:0013156 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4|congenital muscular dystrophy-FKTN related|MDDGB4|muscular dystrophy, congenital, Fktn-related|muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4 Orphanet:370980|UMLS:C2751052|OMIM:613152 owl:Class MONDO:0018279 biolink:NamedThing congenital muscular dystrophy without intellectual disability tmpaxzxjjyw_mondo_relaxed.owl CMD-no MR|CMD without intellectual disability|congenital muscular dystrophy-dystroglycanopathy without intellectual disability OMIM:613152|ICD10:G71.2|Orphanet:370980|OMIM:606612 owl:Class UBERON:0034770 biolink:NamedThing bulbourethral gland epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25928 biolink:NamedThing WDR73 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009589 biolink:NamedThing mesomelic dwarfism-cleft palate-camptodactyly syndrome Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl mesomelic dysplasia, Reardon type|mesomelic dysplasia, Kozlowski-Reardon type|Reardon-Hall-Slaney syndrome|mesomelic dwarfism cleft palate camptodactyly|mesomelic limb shortening and bowing GARD:0003552|Orphanet:2631|SCTID:715471007|OMIM:249710|ICD10:Q78.8|MESH:C565404 https://rarediseases.info.nih.gov/diseases/3552/mesomelic-dwarfism-cleft-palate-camptodactyly owl:Class MONDO:0044704 biolink:NamedThing oropharynx squamous cell carcinoma A squamous cell carcinoma that involves the oropharynx. tmpaxzxjjyw_mondo_relaxed.owl epidermoid carcinoma of the oropharynx|oropharyngeal squamous cell carcinoma|oropharyngeal throat squamous cell cancer|epidermoid carcinoma of oropharynx|squamous cell carcinoma of the oropharynx|squamous cell carcinoma of oropharynx|oropharyngeal epidermoid carcinoma ONCOTREE:OPHSC|NCIT:C8181|Orphanet:500478 owl:Class MONDO:0000536 biolink:NamedThing pharyngeal squamous cell carcinoma A squamous cell carcinoma that arises from the pharynx. tmpaxzxjjyw_mondo_relaxed.owl pharyngeal squamous cell carcinoma|pharynx squamous cell carcinoma|pharyngeal squam. cell carcinoma|pharyngeal (including hypopharyngeal and oropharyngeal) squamous cell carcinoma|pharyngeal throat squamous cell cancer NCIT:C102872|UMLS:C1319317|DOID:0050921|SCTID:408649007|EFO:1001965 owl:Class NCBITaxon:2732533 biolink:NamedThing Zurhausenvirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732421 biolink:NamedThing Papovaviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class ENVO:00002016 biolink:NamedThing sedimentary rock A rock formed by deposition of either clastic sediments, organic matter, or chemical precipitates (evaporites), followed by compaction of the particulate matter and cementation during diagenesis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00001995 biolink:NamedThing rock A rock is a naturally occurring solid aggregate of one or more minerals or mineraloids. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002795 biolink:NamedThing negative regulation of antimicrobial peptide secretion Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide secretion. tmpaxzxjjyw_mondo_relaxed.owl down regulation of antimicrobial peptide secretion|down-regulation of antimicrobial peptide secretion|downregulation of antimicrobial peptide secretion|inhibition of antimicrobial peptide secretion owl:Class GO:0002792 biolink:NamedThing negative regulation of peptide secretion Any process that stops, prevents, or reduces the frequency, rate, or extent of peptide secretion. tmpaxzxjjyw_mondo_relaxed.owl inhibition of peptide secretion|downregulation of peptide secretion|down regulation of peptide secretion|down-regulation of peptide secretion owl:Class MONDO:0015137 biolink:NamedThing periodic fever syndrome Fevers of unknown etiology recurring over months or years. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:101995|UMLS:C0015974|MedDRA:10034533|ICD10:E85.0|NCIT:C118240|UMLS:C3889979 owl:Class MONDO:0019751 biolink:NamedThing autoinflammatory syndrome A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10072220|Orphanet:93665|UMLS:C3267073|UMLS:C3890737|NCIT:C119050 Editor note: todo - investigate diseases that have autoinflammatory and autommune components, e.g. IBD, Ankylosing Spondylitis, Axial Spondyloarthropathy, perhaps adult Onset Still's Disease. Consider disjointness axiom owl:Class CL:0009000 biolink:NamedThing sensory neuron of spinal nerve A sensory neuron of the spinal nerve that senses body position and sends information about how much the muscle is stretched to the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl spinal sensory neuron owl:Class CL:0000101 biolink:NamedThing sensory neuron Any neuron having a sensory function; an afferent neuron conveying sensory impulses. tmpaxzxjjyw_mondo_relaxed.owl WBbt:0005759|FBbt:00005124|FMA:84649|BTO:0001037 cell owl:Class GO:0046164 biolink:NamedThing alcohol catabolic process The chemical reactions and pathways resulting in the breakdown of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. tmpaxzxjjyw_mondo_relaxed.owl alcohol degradation|alcohol catabolism|alcohol breakdown owl:Class GO:0044282 biolink:NamedThing small molecule catabolic process The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. tmpaxzxjjyw_mondo_relaxed.owl small molecule catabolism owl:Class UBERON:0010303 biolink:NamedThing extraembryonic epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005292 biolink:NamedThing extraembryonic tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018256 biolink:NamedThing lacrimal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043300 biolink:NamedThing actinic cheilitis tmpaxzxjjyw_mondo_relaxed.owl solar keratosis of lip|actinic cheilitis|actinic cheilosis SCTID:46795000|MESH:C535669|GARD:0009619|UMLS:C0267026 owl:Class MONDO:0002102 biolink:NamedThing cheilitis An inflammatory process affecting the lip. tmpaxzxjjyw_mondo_relaxed.owl inflammation of lip|lip inflammation NCIT:C79545|MESH:D002613|ICD10:K13.0|DOID:1762|UMLS:C0007971|HP:0100825|SCTID:7847004 owl:Class MONDO:0018463 biolink:NamedThing mild phosphoribosylpyrophosphate synthetase superactivity Mild phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the mild and late-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, leading to urolithiasis and gout. This form is not associated with any neuropathy or central nervous system (CNS) disorders. tmpaxzxjjyw_mondo_relaxed.owl mild PRPS1 superactivity|mild PRPP synthetase superactivity Orphanet:411536|OMIM:300661|ICD10:E79.8|UMLS:CN237443 owl:Class MONDO:0010395 biolink:NamedThing phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies (severe PRPP synthetase superactivity) and a mild late-onset form with no neurologic involvement (mild PRPP synthetase superactivity). tmpaxzxjjyw_mondo_relaxed.owl phosphoribosylpyrophosphate synthetase superactivity|gout, PRPS-related|PRPS1 superactivity|PRPP synthetase superactivity UMLS:C1970827|ICD10:E79.8|OMIM:300661|DOID:0111260|Orphanet:3222|MESH:C567064|SCTID:723454008 owl:Class UBERON:0010339 biolink:NamedThing 1st arch mandibular mesenchyme from head mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009584 biolink:NamedThing 1st arch mandibular mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020552 biolink:NamedThing placental site trophoblastic tumor Placental site trophoblastic tumor is a rare gestational trophoblastic tumor (GTT) which develops from the placental implantation site and always occurs following pregnancy, voluntary termination of pregnancy (VTP) or miscarriage. tmpaxzxjjyw_mondo_relaxed.owl placental-site GTT|PSST|placental-site gestational trophoblastic tumor|placental-site gestational trophoblastic neoplasm|placental site gestational trophoblastic tumor|placental site trophoblastic tumor|placental site trophoblastic tumor (morphologic abnormality) EFO:1001111|DOID:3596|ICD10:D39.2|MESH:D018245|ONCOTREE:PSTT|NCIT:C3757|Orphanet:99928|SCTID:237252008|ICDO:9104/1|UMLS:C0206666 owl:Class MONDO:0018944 biolink:NamedThing gestational trophoblastic neoplasm A diverse group of pregnancy-related tumors characterized by excessive proliferation of trophoblasts. Representative examples include hydatidiform mole, gestational choriocarcinoma, and placental site trophoblastic tumor. tmpaxzxjjyw_mondo_relaxed.owl hydatidiform mole|gestational trophoblastic tumor|gestational trophoblastic neoplasia|gestational trophoblastic disease|molar pregnancy|GTN|GTT NCIT:C4699|GARD:0006498|SCTID:609519004|DOID:3590|ICD9:630|UMLS:C1135868|ICD10:O01.9|UMLS:C0020217|ICD10:O01.0|SCTID:44782008|ICD10:O01|NCIT:C3110|MedDRA:10061988|Orphanet:59305|OMIM:231090|MESH:D006828 owl:Class MONDO:0009887 biolink:NamedThing desquamative interstitial pneumonia A rare idiopathic interstitial pneumonia characterized by accumulation of macrophages in alveolar spaces and interstitial inflammation. It usually occurs in smokers. Some patients develop progressive interstitial lung fibrosis. tmpaxzxjjyw_mondo_relaxed.owl desquamative interstitial pneumonia|respiratory bronchiolitis-associated interstitial lung disease|familial desquamative interstitial pneumonitis|interstitial lung disease, desquamative|interstitial pneumonitis, desquamative, familial|respiratory bronchiolitis interstitial lung disease|RBILD|DIP|ILD, desquamative|pneumonia, desquamative interstitial, familial|pneumonitis, desquamative interstitial, familial NCIT:C35288|ICD10:J84.117|UMLS:C0238378|ICD10:J84.115|OMIM:263000|ICD9:516.37|SCTID:8549006|MESH:C562470|ICD9:516.34|Orphanet:98852|ICD10:J84.1|DOID:0050158 owl:Class MONDO:0002429 biolink:NamedThing idiopathic interstitial pneumonia A class of diffuse lung diseases that typically affect the pulmonary interstitium, although some also have a component affecting the airways (for instance, Cryptogenic organizing pneumonitis). tmpaxzxjjyw_mondo_relaxed.owl idiopathic interstitial pneumonitis|noninfectious pneumonia|IPF|IIp|diffuse idiopathic pulmonary fibrosis|idiopathic fibrosing alveolitis MESH:D054988|SCTID:236302005|SCTID:196125002|NCIT:C35714|ICD10:J84.112|ICD10:J84.11|DOID:2797|Orphanet:98300|ICD10:J84.114|UMLS:C2350236|SCTID:700249006 owl:Class MONDO:0015725 biolink:NamedThing mosaic trisomy 14 Mosaic trisomy 14 is a rare chromosomal disorder in which there are 3 copies (trisomy) of chromosome 14 in some cells of the body, while other cells have the usual two copies. The extent and severity of features in affected individuals can vary. Signs and symptoms that have been most commonly reported include intrauterine growth restriction ; failure to to thrive ; developmental delay; intellectual disability; distinctive facial characteristics; structural malformations of the heart; and other physical abnormalities. This condition is most often caused by an error in cell division in the egg or sperm cell before conception, or in fetal cells after fertilization. Treatment is directed toward the specific signs and symptoms in each individual. tmpaxzxjjyw_mondo_relaxed.owl Mosaic trisomy chromosome 14|Mosaic trisomy type 14|trisomy 14 mosaicism ICD10:Q92.1|MESH:C535489|GARD:0001327|Orphanet:1703|SCTID:764466009|UMLS:C2930917|NCIT:C116319 https://rarediseases.info.nih.gov/diseases/1327/mosaic-trisomy-14 owl:Class MONDO:0700065 biolink:NamedThing trisomy A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. tmpaxzxjjyw_mondo_relaxed.owl chromosomal triplication GARD:0006065|NCIT:C3421 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0012635 biolink:NamedThing COG8-CDG The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. tmpaxzxjjyw_mondo_relaxed.owl CDG IIh|CDG-IIh|CDG2H|congenital disorder of glycosylation type 2h|congenital disorder of glycosylation, type IIh|COG8-CDG (CDG-IIh)|congenital disorder of glycosylation type IIh|carbohydrate deficient glycoprotein syndrome type IIh|CDG syndrome type IIh|COG8-CDG DOID:0070260|UMLS:C1970021|SCTID:717774004|ICD10:E77.8|Orphanet:95428|GARD:0012411|MESH:C566987|OMIM:611182 owl:Class HP:0002981 biolink:NamedThing Abnormality of the calf An abnormality of the calf, i.e. of the posterior part of the lower leg. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the calf UMLS:C4021832 human_phenotype owl:Class HP:0002814 biolink:NamedThing Abnormality of the lower limb An abnormality of the leg. tmpaxzxjjyw_mondo_relaxed.owl Lower limb deformities|Abnormality of the leg|Abnormality of the lower limb SNOMEDCT_US:449715001|UMLS:C1096086 human_phenotype owl:Class UBERON:0011584 biolink:NamedThing zeugopodial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010712 biolink:NamedThing limb skeleton subdivision tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015143 biolink:NamedThing mesenteric fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003916 biolink:NamedThing fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000258 biolink:NamedThing exposure to steroid hormone An exposure to steroid hormone. tmpaxzxjjyw_mondo_relaxed.owl exposure to steroid hormone owl:Class ECTO:0002002 biolink:NamedThing exposure to steroid An exposure to steroid. tmpaxzxjjyw_mondo_relaxed.owl exposure to steroid owl:Class MONDO:0032791 biolink:NamedThing Coffin-Siris syndrome 10 tmpaxzxjjyw_mondo_relaxed.owl CSS10|COFFIN-SIRIS SYNDROME 10 OMIM:618506 owl:Class CHEBI:37622 biolink:NamedThing carboxamide An amide of a carboxylic acid, having the structure RC(=O)NR2. The term is used as a suffix in systematic name formation to denote the -C(=O)NH2 group including its carbon atom. tmpaxzxjjyw_mondo_relaxed.owl primary carboxamide|carboxamides owl:Class CHEBI:36963 biolink:NamedThing organooxygen compound An organochalcogen compound containing at least one carbon-oxygen bond. tmpaxzxjjyw_mondo_relaxed.owl organooxygen compounds|organooxygen compound owl:Class MONDO:0021224 biolink:NamedThing iris neoplasm A neoplasm (disease) that involves the iris. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of iris|neoplasm of the iris|tumor of the iris|tumor of iris|iris neoplasm (disease)|iris tumor UMLS:C0022079|NCIT:C3142 owl:Class MONDO:0003371 biolink:NamedThing breast leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the breast. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of the breast|leiomyosarcoma of breast|breast leiomyosarcoma DOID:5285|NCIT:C5186|UMLS:C1332631 owl:Class MONDO:0002490 biolink:NamedThing breast sarcoma A malignant mesenchymal neoplasm that arises from the breast. Representative examples include angiosarcoma, liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and extraskeletal osteosarcoma. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of the breast|sarcoma of breast|breast sarcoma|PBS UMLS:C0349667|DOID:3017|NCIT:C4670|SCTID:278050001|ONCOTREE:PBS owl:Class ENVO:01001619 biolink:NamedThing snow and ice accumulation process A material accumulation process during which a accumulation of snow and ice forms or increases in mass. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001617 biolink:NamedThing snow accumulation process A material accumulation process during which the mass of snow on a surface increases. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002423 biolink:NamedThing DN2a thymocyte A DN2 thymocyte that is Kit-hi. tmpaxzxjjyw_mondo_relaxed.owl Observed in mice. tmeehan 2010-10-21T10:12:05Z cell owl:Class CL:0000806 biolink:NamedThing DN2 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-positive. tmpaxzxjjyw_mondo_relaxed.owl DN2 alpha-beta immature T-lymphocyte|DN2 immature T cell|DN2 alpha-beta immature T-cell|DN2 cell|preT.DN2.Th|TN2 cell|double negative 2|TN2 thymocyte|DN2 alpha-beta immature T lymphocyte Note that this type of thymocyte is at the earliest stage of T cell receptor rearrangement of the beta, gamma, and delta T cell receptor chains. cell owl:Class CL:0009004 biolink:NamedThing retinal cell Any cell in the retina, the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. tmpaxzxjjyw_mondo_relaxed.owl PMID:10702418 cell owl:Class CL:0002319 biolink:NamedThing neural cell A cell that is part of the nervous system. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-2040|FMA:70333 tmeehan 2010-09-15T01:34:57Z cell owl:Class MONDO:0016581 biolink:NamedThing conotruncal heart malformations Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon). tmpaxzxjjyw_mondo_relaxed.owl Taussig-Bing syndrome or defect|persistent truncus arteriosus|conotruncal cardiac defects|CTHM|conotruncal anomaly face syndrome|conotruncal heart malformations|interrupted aortic Arch|truncus arteriosus communis|Double-outlet right ventricle OMIM:217095|UMLS:C1857586|ICD9:747.11|Orphanet:2445|SCTID:218728005|GARD:0008189 owl:Class MONDO:0020285 biolink:NamedThing transposition of the great arteries and conotruncal cardiac anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98717 owl:Class UBERON:0001274 biolink:NamedThing ischium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050921 biolink:NamedThing positive regulation of chemotaxis Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. tmpaxzxjjyw_mondo_relaxed.owl up regulation of chemotaxis|stimulation of chemotaxis|upregulation of chemotaxis|activation of chemotaxis|up-regulation of chemotaxis owl:Class MONDO:0018187 biolink:NamedThing genetic syndromic Pierre Robin syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:363294|UMLS:CN204685 owl:Class MONDO:0008728 biolink:NamedThing classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia. tmpaxzxjjyw_mondo_relaxed.owl 21 hydroxylase deficiency|congenital adrenal hyperplasia due to 21-hydroxylase deficiency|classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency|classic 21-OHD CAH|congenital adrenal hyperplasia 1|adrenal hyperplasia 3|21-hydroxylase deficiency|adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency|21-OHD|adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency|CYP21 deficiency|hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency Orphanet:90794|MESH:C535979|SCTID:124221007|GARD:0005757|Orphanet:418|SCTID:717261006|OMIM:201910|NCIT:C131087|GARD:0012665|UMLS:C4273964|ICD10:E25.0 owl:Class MONDO:0006785 biolink:NamedThing Henoch-Schoenlein purpura A systemic, usually self-limited immune complex vasculitis, characterized by immunoglobulin A deposition in the small vessels and kidneys. It is manifested with small hemorrhages in the skin, gastrointestinal symptoms, arthritis, and nephropathy. tmpaxzxjjyw_mondo_relaxed.owl allergic purpura|purpura, autoimmune|Henoch-Schönlein purpura|HSP|Henoch-Schoenlein purpura|Henoch-Scholein purpura|Henoch-Schonlein purpura|Schoenlein-Henoch purpura|autoimmune purpura 2022-03-01 DOID:11123|ICD10:D69.0|SCTID:191306005|ICD9:287.0|EFO:1000965|MESH:D011695|NCIT:C34963 Reason: duplicate. This will be merged with MONDO:0019167 owl:Class MONDO:0006794 biolink:NamedThing hypersensitivity vasculitis A small vessel vasculitis affecting the skin and/or internal organs. It is characterized by the presence of neutrophils and fibrinoid necrosis in small arteries and venules. It may be idiopathic or the result of drug treatment, infections, food intake, collagen vascular disorders, inflammatory bowel disease, or cancer. tmpaxzxjjyw_mondo_relaxed.owl leukocytoclastic vasculitis ICD9:446.29|NCIT:C82863|ICD10:M31.0|EFO:1000974|SCTID:60555002|ICD10:D69.0|MedDRA:10020764|DOID:9809|ICD9:446.2|NCIT:C35119|ICD9:446.20 owl:Class UBERON:0010745 biolink:NamedThing sacral vertebra cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011094 biolink:NamedThing vertebra cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007938 biolink:NamedThing 46,XY sex reversal 4 Sex reversal in an individual associated with a 9p24.3 deletion. tmpaxzxjjyw_mondo_relaxed.owl 46,XY Sex reversal type 4|chromosome 9P24.3 deletion syndrome|46,XY sex reversal 4|46,XY gonadal dysgenesis, partial or complete, with 9P24.3 deletion|SRXY4|46,XY SEX reversal 4 MESH:C567887|DOID:0111771|Orphanet:242|NCIT:C132270|Orphanet:251510|OMIM:154230 owl:Class MONDO:0010002 biolink:NamedThing Rothmund-Thomson syndrome Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers. tmpaxzxjjyw_mondo_relaxed.owl poikiloderma congenitale|poikiloderma atrophicans and cataract|RTS|congenital poikiloderma|Rothmund-Thomson syndrome|poikiloderma of Rothmund-Thomson SCTID:69093006|OMIMPS:268400|Orphanet:2909|DOID:2732|GARD:0004392|NCIT:C3335|MESH:D011038|ICD9:759.89|ICD10:Q82.8|UMLS:C0032339 Editor note: check whether properties apply to both 1 and 2, or just type 2 owl:Class MONDO:0016382 biolink:NamedThing hereditary poikiloderma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:222628 owl:Class CHEBI:45696 biolink:NamedThing hydrogensulfate tmpaxzxjjyw_mondo_relaxed.owl hydrogensulfate|hydroxidotrioxidosulfate(1-)|hydrogen(tetraoxidosulfate)(1-)|HYDROGEN SULFATE|hydrogentetraoxosulfate(1-)|[SO3(OH)](-)|hydrogentetraoxosulfate(VI)|hydrogensulfate(1-)|HSO4(-) owl:Class CHEBI:33482 biolink:NamedThing sulfur oxoanion tmpaxzxjjyw_mondo_relaxed.owl oxoanions of sulfur|sulfur oxoanions|sulfur oxoanion owl:Class CL:0000542 biolink:NamedThing lymphocyte A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-0583|FMA:62863|VHOG:0001535|BTO:0000775 Editors note: consider adding taxon constraint to vertebrata (PMID:18025161) cell owl:Class CL:0000842 biolink:NamedThing mononuclear cell A leukocyte with a single non-segmented nucleus in the mature form. tmpaxzxjjyw_mondo_relaxed.owl peripheral blood mononuclear cell|mononuclear leukocyte FMA:86713|CALOHA:TS-0768|BTO:0000878 cell owl:Class MONDO:0006519 biolink:NamedThing rectal cancer A primary or metastatic malignant neoplasm that affects the rectum. Representative examples include carcinoma, lymphoma, and sarcoma. tmpaxzxjjyw_mondo_relaxed.owl malignant rectal tumor|rectum cancer|carcinoma of the rectum|malignant tumor of rectum|carcinoma of rectum|malignant tumor of the rectum|cancer of rectum|malignant rectum tumor|malignant neoplasm of the rectum|malignant neoplasm of rectum|malignant rectal neoplasm|malignant rectum neoplasm SCTID:363351006|ICD9:154.1|ICD10:C20|EFO:1000657|SCTID:254582000|MESH:D012004|DOID:1993|NCIT:C7418 owl:Class MONDO:0021138 biolink:NamedThing bone marrow cancer Malignant neoplasms that either originate from the bone marrow (e.g. myeloid leukemias) or involve the bone marrow as secondary-metastatic tumors (e.g. metastatic carcinomas to the bone marrow). --2003 tmpaxzxjjyw_mondo_relaxed.owl bone marrow cancer|malignant bone marrow neoplasm|malignant neoplasm of bone marrow|malignant bone marrow tumor|cancer of bone marrow NCIT:C35501|UMLS:C2703042 owl:Class MONDO:0002129 biolink:NamedThing bone cancer A primary or metastatic malignant neoplasm affecting the bone or articular cartilage. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of skeletal element|malignant tumor of bone|malignant osseous neoplasm|cancer of the bone|malignant bone neoplasm|malignant bone tumour|bone neoplasm|cancer of bone|malignant tumor of the bone|bone cancer|CA - bone cancer|malignant bone tumor|malignant osseous tumor|malignant neoplasm of bone|cancer of skeletal element|osseous cancer|malignant skeletal element neoplasm|osseous tumor|malignant neoplasm of the bone|bone tumour|skeletal element cancer SCTID:428281000|NCIT:C9343|MESH:D001859|DOID:184|ICD9:170.9|CSP:2019-1041|NCIT:C4016 owl:Class MONDO:0011629 biolink:NamedThing MOGS-CDG MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1). tmpaxzxjjyw_mondo_relaxed.owl congenital disorder of glycosylation type 2b|CDG IIb|CDG-IIb|congenital disorder of glycosylation type IIb|MOGS-CDG (CDG-IIb)|carbohydrate deficient glycoprotein syndrome type IIb|glucosidase 1 deficiency|GCS1-CDG|MOGS-CDG|CDG syndrome type IIb|CDG 2B|congenital disorder of glycosylation, type IIb|CDG2B UMLS:C1853736|MESH:C565264|OMIM:606056|SCTID:725028009|GARD:0010767|Orphanet:79330|DOID:0070254|ICD10:E77.8 owl:Class HGNC:1960 biolink:NamedThing CHRNA7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018673 biolink:NamedThing neck of fibula tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010456 biolink:NamedThing renal cell carcinoma, Xp11-associated tmpaxzxjjyw_mondo_relaxed.owl renal cell carcinoma, Xp11-associated|RCCX1 OMIM:300854|UMLS:C3275446|Orphanet:319308 owl:Class MONDO:0017886 biolink:NamedThing MIT family translocation renal cell carcinoma MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever. tmpaxzxjjyw_mondo_relaxed.owl translocation renal cell carcinoma|carcinoma associated with MITF/TFE translocation SCTID:764694005|OMIM:300854|ICD10:C64|UMLS:C4518356|Orphanet:319308 owl:Class MONDO:0015359 biolink:NamedThing autosomal dominant hereditary demyelinating motor and sensory neuropathy tmpaxzxjjyw_mondo_relaxed.owl AD demyelinating HMSN ICD10:G60.0|UMLS:CN228926|Orphanet:140453 owl:Class MONDO:0018776 biolink:NamedThing demyelinating hereditary motor and sensory neuropathy tmpaxzxjjyw_mondo_relaxed.owl demyelinating hereditary motor and sensory neuropathy|demyelinating HMSN Orphanet:476116 owl:Class MONDO:0018344 biolink:NamedThing periodic paralysis with transient compartment-like syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226077|Orphanet:397755|ICD10:G72.3 owl:Class MONDO:0016122 biolink:NamedThing periodic paralysis tmpaxzxjjyw_mondo_relaxed.owl periodic paralysis (disease)|periodic paralysis periodic paralysis (disease) MedDRA:10016208|Orphanet:206976|ICD10:G72.3|HP:0003768|UMLS:CN231077|UMLS:C1279412 Editor note: classified as genetic in ORDO but we treat as neutral here owl:Class HGNC:12009 biolink:NamedThing TPI1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002278 biolink:NamedThing benign colon neoplasm A non-metastasizing neoplasm arising from the wall of the colon. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of colon|colon benign neoplasm|benign neoplasm of the colon|benign colon tumor|benign tumor of colon|colon neoplasm|benign colonic tumor|colonic Mass|colonic tumor|benign colonic neoplasm|benign colon neoplasm|colonic benign neoplasm|benign tumor of the colon UMLS:C0004991|NCIT:C2953|NCIT:C2894|UMLS:C0009375|MESH:D003110|ICD9:211.3|SCTID:92065004|DOID:235 MONDO:0021466 owl:Class UBERON:0002027 biolink:NamedThing stratum corneum of epidermis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001215 biolink:NamedThing allescheriosis A primary systemic mycosis that results in systemic fungal infection, has material basis in Pseudallescheria boydii, which results in formation of abscesses. tmpaxzxjjyw_mondo_relaxed.owl Petriellidosis UMLS:C0153285|ICD9:117.6|ICD10:B48.2|SCTID:80936003|DOID:11186 owl:Class MONDO:0000308 biolink:NamedThing primary systemic mycosis A systemic mycosis that arises from infection in an immunologically normal host. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050292 owl:Class MONDO:0010327 biolink:NamedThing HSD10 mitochondrial disease HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, syndromic 10|2-methyl-3-hydroxybutyric aciduria|2M3HBA|3H2MBD deficiency|3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency|HSD10 mitochondrial disease|17-beta-hydroxysteroid dehydrogenase X deficiency|mental retardation with chorioathetosis and abnormal behavior|mental retardation, X-linked syndromic 10|chorioathetosis with mental retardation and abnormal behavior|17 beta-hydroxysteroid dehydrogenase type 10 deficiency|HSD17B10 deficiency|17-beta-hydroxysteroid dehydrogenase 10 deficiency|HSD10 deficiency|mental retardation, X-linked, syndromic type 10|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency|3-hydroxyacyl-CoA dehydrogenase 2 deficiency|MRXS10|hydroxyacyl-CoA dehydrogenase II deficiency|syndromic X-linked intellectual disability type 10|HSD10MD|X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome|MHBD deficiency|HSD10 deficiency, atypical type DOID:0060810|MESH:C564560|MESH:C536080|ICD10:E72.8|SCTID:791000124107|GARD:0010716|OMIM:300220|UMLS:C1846168|UMLS:CN204973|Orphanet:391417|OMIM:300438|ICD10:G25.5 owl:Class MONDO:0008694 biolink:NamedThing pseudoprogeria syndrome Pseudoprogeria is characterised by intellectual deficit associated with progressive spastic quadriplegia, microcephaly, glaucoma, absence of the eyebrows and eyelashes, and a malformation of the nose. It has been described in two brothers. tmpaxzxjjyw_mondo_relaxed.owl pseudoprogeria syndrome|absent eyebrows and eyelashes with intellectual disability|mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|eyebrows and eyelashes absence-intellectual disability syndrome|absent eyebrows and eyelashes-intellectual disability syndrome|intellectual disability, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose|absent eyebrows and eyelashes with mental retardation|Hal-Berg-Rudolph syndrome Orphanet:2985|OMIM:200130|SCTID:733086003|MESH:C563111|GARD:0000415|ICD10:Q87.8|UMLS:C0796125 https://rarediseases.info.nih.gov/diseases/415/pseudoprogeria-syndrome owl:Class MONDO:0060555 biolink:NamedThing vertebral, cardiac, renal, and limb defects syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl congenital NAD deficiency disorder 2|VCRL2|vertebral, cardiac, renal, and limb defects syndrome 2|kynureninase deficiency, complete OMIM:617661|UMLS:C4540014 owl:Class MONDO:0020831 biolink:NamedThing congenital vertebral-cardiac-renal anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl VCRL|vertebral, cardiac, renal, and limb defects syndrome Orphanet:521438|OMIMPS:617660 owl:Class MONDO:0005665 biolink:NamedThing Bell's palsy Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur. tmpaxzxjjyw_mondo_relaxed.owl palsy of facial nerve|paralysis Of Facial nerve|facial nerve paralysis|Bell palsy|Bell's (facial) palsy|nerve paralysis, Facial|facial palsy|facial nerve palsy Orphanet:2810|DOID:12506|EFO:0007167|ICD10:G51.0|SCTID:193093009|ICD9:351.0|NCIT:C26769|GARD:0005906|MESH:D020330|UMLS:C0376175 owl:Class MONDO:0002782 biolink:NamedThing cranial nerve palsy Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness. tmpaxzxjjyw_mondo_relaxed.owl cranial nerve palsy|cranial nerve paralysis|cranial nerve palsies NCIT:C26941|DOID:3817|SCTID:73013002|MESH:D003389|UMLS:C0151311 owl:Class GO:0050820 biolink:NamedThing positive regulation of coagulation Any process that activates or increases the frequency, rate or extent of coagulation. tmpaxzxjjyw_mondo_relaxed.owl stimulation of coagulation|positive regulation of clotting|up-regulation of coagulation|up regulation of coagulation|activation of coagulation|upregulation of coagulation owl:Class MONDO:0006159 biolink:NamedThing colorectal gastrointestinal stromal tumor A gastrointestinal stromal tumor that arises from the colon or rectum. The majority of cases have spindle cell morphology. Gastrointestinal stromal tumors of the colon are usually advanced upon detection and tend to have a poor prognosis; gastrointestinal stromal tumors of the rectum usually have an aggressive clinical course. tmpaxzxjjyw_mondo_relaxed.owl colorectal gastrointestinal stromal tumor (gist)|colorectal gist|colorectal gastrointestinal stromal tumor|colorectal (colon or rectal) gastrointestinal stromal tumor (gist) EFO:1000192|UMLS:C1333109|NCIT:C27735 owl:Class MONDO:0005335 biolink:NamedThing colorectal neoplasm A benign or malignant neoplasm that affects the colon or rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colorectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpaxzxjjyw_mondo_relaxed.owl large intestine neoplasm|colorectal tumor|colorectum tumor|large intestine tumor|colorectal neoplasm|tumor of the large bowel|neoplasm of large bowel|neoplasm of the large bowel|colorectum neoplasm (disease)|tumor of large bowel|neoplasm of colorectum|large bowel tumor|colorectum neoplasm|large bowel neoplasm|large intestinal neoplasm|tumor of colorectum EFO:0004142|OMIM:114500|NCIT:C2956|MESH:D015179 MONDO:0021236 owl:Class MONDO:0040677 biolink:NamedThing invasive carcinoma A carcinoma that is not confined to the epithelium, and has spread to the surrounding stroma. tmpaxzxjjyw_mondo_relaxed.owl invasive carcinoma UMLS:C1334274|NCIT:C9480 owl:Class MONDO:0002528 biolink:NamedThing synovium neoplasm A benign or malignant soft tissue neoplasm arising exclusively from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath, localized giant cell tumor of tendon sheath, and malignant giant cell tumor of tendon sheath. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the synovium|synovial membrane of synovial joint tumor|synovial neoplasm NOS (morphologic abnormality)|synovial membrane of synovial joint neoplasm (disease)|synovial tumor|tumor of synovium|synovial neoplasm|tumor of synovial membrane of synovial joint|synovial membrane of synovial joint neoplasm|synovial neoplasm (morphologic abnormality)|neoplasm of synovial membrane of synovial joint|tumor of the synovium|neoplasm of synovium UMLS:C0476203|NCIT:C8964|DOID:315 owl:Class MONDO:0019509 biolink:NamedThing cutaneous leukocytoclastic angiitis Cutaneous leukocytoclastic angiitis is a small-vessel vasculitis presenting with palpable purpura and urticarial lesions which predate the purpuric lesions most frequently observed on the legs. Systemic symptoms including fever, cough, hemoptysis, sinusitis, arthralgia, arthritis, myalgia, abdominal pain, diarrhea, hematochezia, paresthesia, weakness, and hematuria may be observed. Skin biopsy reveals exudates rich in neutrophils, endothelial damage, fibrin deposition, and leukocytoclasis in postcapillary venules of small vessels. Cutaneous leukocytoclastic angiitis can be idiopathic (in up to 50% of cases) or secondary to infections, medications (such as antituberculosis medication), collagen vascular diseases, or neoplasms. tmpaxzxjjyw_mondo_relaxed.owl cutaneous small-vessel vasculitis|hypersensitivity angiitis|cutaneous small vessel vasculitis|leukocytoclastic angiitis|cutaneous hypersensitivity vasculitis|cutaneous leukocytoclastic vasculitis Orphanet:889|NCIT:C122919|SCTID:718217000|GARD:0007851|ICD10:M31.0 owl:Class MONDO:0015491 biolink:NamedThing immune complex mediated vasculitis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156149 owl:Class MONDO:0001871 biolink:NamedThing acute diffuse glomerulonephritis An acute inflammation of the glomeruli, in which all glomeruli are affected, resulting in acute renal failure. tmpaxzxjjyw_mondo_relaxed.owl acute diffuse nephritis|acute diffuse glomerulonephritis|diffuse glomerulonephritis, acute UMLS:C0341689|SCTID:197585004|NCIT:C35587|DOID:14066 owl:Class MONDO:0003137 biolink:NamedThing diffuse glomerulonephritis Inflammation of the glomeruli, in which all glomeruli are affected, resulting in renal failure. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35799|DOID:4781|UMLS:C0859036 owl:Class UBERON:0010366 biolink:NamedThing conjunctival vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010543 biolink:NamedThing acropodial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006780 biolink:NamedThing heartwater disease A tick-borne septicemic disease of domestic and wild ruminants caused by ehrlichia ruminantium. tmpaxzxjjyw_mondo_relaxed.owl disease, heartwater UMLS:C0018835|MESH:D006357|EFO:1000960 owl:Class MONDO:0033015 biolink:NamedThing erythrokeratodermia variabilis et progressiva 5 tmpaxzxjjyw_mondo_relaxed.owl EKVP5|erythrokeratodermia variabilis ET progressiva 5 OMIM:617756|OMIM:617526|DOID:0080251|Orphanet:316 owl:Class MONDO:0017851 biolink:NamedThing erythrokeratodermia variabilis A rare genetic chronic skin disorder characterized by hyperkeratosis and transient erythema. Mutations in GJB3 and GJB4 genes have been identified as causative agents. tmpaxzxjjyw_mondo_relaxed.owl erythrokeratodermia variabilis, Mendes da Costa type|EKV|erythrokeratodermia progressiva symmetrica|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis|erythrokeratodermia Figurata variabilis|Greither's disease|erythrokeratodermia variabilis ET progressiva|Darier-Gottron disease|progressive symmetric erythrokeratodermia, Gottron type|progressive symmetric erythrokeratodermia|keratosis extremitatum hereditaria progrediens|keratoderma palmoplantaris transgrediens|erythrokeratodermia variabilis with erythema Gyratum Repens|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia variabilis with erythema gyratum repens|keratosis palmoplantaris transgrediens Et progrediens|EKVP|erythrokeratodermia Figurata, congenital familial, in plaques|keratosis palmoplantaris transgrediens et progrediens SCTID:70041004|OMIMPS:133200|NCIT:C84696|OMIM:133200|UMLS:C0265961|MedDRA:10049048|MESH:C536154|MESH:D056266|ICD10:Q82.8|DOID:0050467|Orphanet:495|Orphanet:316|GARD:0003096|Orphanet:317 https://rarediseases.info.nih.gov/diseases/3096/keratoderma-palmoplantaris-transgrediens owl:Class GO:1901606 biolink:NamedThing alpha-amino acid catabolic process The chemical reactions and pathways resulting in the breakdown of an alpha-amino acid. tmpaxzxjjyw_mondo_relaxed.owl alpha-amino acid breakdown|alpha-amino acid catabolism|alpha-amino acid degradation owl:Class MONDO:0005962 biolink:NamedThing skeletal tuberculosis Tuberculosis of the bones or joints. tmpaxzxjjyw_mondo_relaxed.owl osteoarticular tuberculosis UMLS:C0041324|DOID:1639|MESH:D014394|ICD9:015.9|SCTID:17653001|ICD9:015|ICD10:A18.0|EFO:0007487 owl:Class MONDO:0014474 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2U Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency|LGMD2U|autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD|muscular dystrophy, limb-girdle, type 2U|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7|muscular dystrophy limb-girdle type 2U|MDDGC7|ISPD autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy (limb-girdle) type C7 OMIM:616052|ICD10:G71.0|DOID:0110295|UMLS:C4015095|Orphanet:352479 owl:Class GO:1901569 biolink:NamedThing fatty acid derivative catabolic process The chemical reactions and pathways resulting in the breakdown of fatty acid derivative. tmpaxzxjjyw_mondo_relaxed.owl fatty acid derivative breakdown|fatty acid derivative catabolism|fatty acid derivative degradation owl:Class GO:0051251 biolink:NamedThing positive regulation of lymphocyte activation Any process that activates or increases the frequency, rate or extent of lymphocyte activation. tmpaxzxjjyw_mondo_relaxed.owl up regulation of lymphocyte activation|activation of lymphocyte activation|stimulation of lymphocyte activation|up-regulation of lymphocyte activation|upregulation of lymphocyte activation owl:Class GO:0002696 biolink:NamedThing positive regulation of leukocyte activation Any process that activates or increases the frequency, rate, or extent of leukocyte activation. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of leucocyte activation|up-regulation of leukocyte activation|stimulation of leukocyte activation|upregulation of leukocyte activation|activation of leukocyte activation|up regulation of leukocyte activation|positive regulation of immune cell activation owl:Class CHEBI:35523 biolink:NamedThing bronchodilator agent An agent that causes an increase in the expansion of a bronchus or bronchial tubes. tmpaxzxjjyw_mondo_relaxed.owl bronchodilator agents|broncholytic agent|bronchodilator owl:Class CHEBI:23888 biolink:NamedThing drug Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. tmpaxzxjjyw_mondo_relaxed.owl drugs|medicine owl:Class GO:0051459 biolink:NamedThing regulation of corticotropin secretion Any process that modulates the frequency, rate or extent of the regulated release of corticotropic hormone from a cell. tmpaxzxjjyw_mondo_relaxed.owl regulation of corticotropic hormone secretion|regulation of adrenocorticotropic hormone secretion|regulation of adrenotropin secretion|regulation of ACTH secretion|regulation of adrenotropin hormone secretion|regulation of adrenocorticotropin secretion owl:Class GO:0044060 biolink:NamedThing regulation of endocrine process Any process that modulates the frequency, rate or extent of an endocrine process, a process involving the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. tmpaxzxjjyw_mondo_relaxed.owl regulation of endocrine system process owl:Class MONDO:0008359 biolink:NamedThing radio-renal syndrome Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. tmpaxzxjjyw_mondo_relaxed.owl radio renal syndrome|radial-renal syndrome Orphanet:3015|MESH:C536267|UMLS:C2931146|GARD:0000224|OMIM:179280|SCTID:766765009 https://rarediseases.info.nih.gov/diseases/224/radio-renal-syndrome owl:Class MONDO:0013921 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 4 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TICAM1 gene. tmpaxzxjjyw_mondo_relaxed.owl herpes simplex encephalitis caused by mutation in TICAM1|Herpes simplex encephalitis, susceptibility to, type 4|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6|encephalopathy, acute, infection-induced, susceptibility to, 6|TICAM1 herpes simplex encephalitis|herpes simplex encephalitis, susceptibility to, 4|IIAE6 Orphanet:1930|OMIM:614850 owl:Class MONDO:0000166 biolink:NamedThing encephalopathy, acute, infection-induced tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN236791|OMIMPS:610551 owl:Class MONDO:0017596 biolink:NamedThing diffuse large B-cell lymphoma of the central nervous system A diffuse large B-cell lymphoma arising from the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl DLBCL of the CNS|primary diffuse large B-cell lymphoma of the central nervous system|central nervous system diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of central nervous system|primary DLBCL of the CNS|CNS DLBCL ICD10:C83.3|SCTID:734066005|UMLS:C2026186|ICDO:9680/3|Orphanet:300849|NCIT:C71720 owl:Class MONDO:0018905 biolink:NamedThing diffuse large B-cell lymphoma Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common. tmpaxzxjjyw_mondo_relaxed.owl diffuse large B-cell lymphoma|DLBCL DOID:0050745|MedDRA:10012818|ICD10:C83.3|MESH:D016403|ICD9:200.7|Orphanet:544|UMLS:C0079744|GARD:0003178|EFO:0000403|NCIT:C8851|ICDO:9680/3 https://rarediseases.info.nih.gov/diseases/3178/diffuse-large-B-cell-lymphoma owl:Class MONDO:0014939 biolink:NamedThing congenital myasthenic syndrome 20 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital myasthenic syndrome type 20|CMS20|SLC5A7 congenital myasthenic syndrome|congenital myasthenic syndrome 20 presynaptic|congenital myasthenic syndrome caused by mutation in SLC5A7|myasthenic syndrome, congenital, 20, presynaptic DOID:0110661|OMIM:617143|UMLS:C4310694 owl:Class MONDO:0020345 biolink:NamedThing presynaptic congenital myasthenic syndrome tmpaxzxjjyw_mondo_relaxed.owl presynaptic congenital myasthenic syndromes ICD10:G70.2|OMIM:254210|OMIM:616040|OMIM:615120|OMIM:616720|OMIM:617239|OMIM:616330|Orphanet:98914|OMIM:617143 owl:Class MONDO:0007334 biolink:NamedThing autosomal dominant popliteal pterygium syndrome Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. tmpaxzxjjyw_mondo_relaxed.owl popliteal web syndrome|PPS|popliteal pterygium syndrome, autosomal dominant|cleft lip/palate paramedian mucous cysts of the lower lip popliteal pterygium digital and genital anomalies|facio-genito-popliteal syndrome|faciogenitopopliteal syndrome|popliteal pterygium syndrome|cleft Lip/palate, paramedian mucous cysts of the Lower Lip, popliteal pterygium, digital and genital anomalies OMIM:119500|SCTID:718222000|GARD:0003242|ICD10:Q87.2|Orphanet:1300|UMLS:C0265259|UMLS:CN199177 Editor note: check logical definition owl:Class MONDO:0021523 biolink:NamedThing benign neoplasm of pharynx A benign neoplasm that involves the pharynx. tmpaxzxjjyw_mondo_relaxed.owl pharyngeal neoplasm benign|benign neoplasm of the pharynx|benign pharyngeal neoplasm|benign pharyngeal tumor|benign tumor of the pharynx|benign pharynx tumor|benign tumor of pharynx|pharynx benign neoplasm|benign pharynx neoplasm ICD9:210.9|NCIT:C3597|UMLS:C0153940|SCTID:92293007 owl:Class NCBITaxon:1463975 biolink:NamedThing Cryptostroma corticale tmpaxzxjjyw_mondo_relaxed.owl Coniosporium corticale GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1463974 biolink:NamedThing Cryptostroma tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0045087 biolink:NamedThing innate immune response Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. tmpaxzxjjyw_mondo_relaxed.owl nonspecific immune response|innate immunity owl:Class UBERON:0005712 biolink:NamedThing midgut duodenum mesentery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003284 biolink:NamedThing mesentery of midgut tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006921 biolink:NamedThing cellular component disassembly involved in execution phase of apoptosis The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. tmpaxzxjjyw_mondo_relaxed.owl cellular component disassembly involved in apoptosis|disassembly of cell structures|cellular component disassembly involved in apoptotic process owl:Class GO:0022411 biolink:NamedThing cellular component disassembly A cellular process that results in the breakdown of a cellular component. tmpaxzxjjyw_mondo_relaxed.owl cell structure disassembly|cellular component disassembly at cellular level owl:Class MONDO:0024276 biolink:NamedThing glandular cell neoplasm tmpaxzxjjyw_mondo_relaxed.owl glandular cell neoplasm|glandular cell tumor|glandular cell epithelial neoplasm|glandular cell epithelium neoplasm HP:0031493|NCIT:C7132|UMLS:C1333820 owl:Class MONDO:0009578 biolink:NamedThing neurocutaneous melanocytosis Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death. tmpaxzxjjyw_mondo_relaxed.owl NCM|melanosis, neurocutaneous|neurocutaneous melanosis syndrome|neurocutaneous melanosis|Neuromelanosis|NCMS MESH:C537387|ICD10:D22.6|Orphanet:2481|GARD:0007186|ICD10:D22.7|ICD10:D22.5|ICD10:D22.3|ICD10:D22.4|OMIM:249400 owl:Class GO:1905293 biolink:NamedThing negative regulation of neural crest cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of neural crest cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of neural crest cell differentiation|inhibition of neural crest cell differentiation|down-regulation of neural crest cell differentiation|downregulation of neural crest cell differentiation owl:Class GO:1905292 biolink:NamedThing regulation of neural crest cell differentiation Any process that modulates the frequency, rate or extent of neural crest cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016820 biolink:NamedThing Moyamoya disease Moyamoya disease (MMD) is a rare intracranial arteriopathy involving progressive stenosis of the cerebral vasculature located at the base of the brain causing transient ischemic attacks or strokes. tmpaxzxjjyw_mondo_relaxed.owl progressive intracranial arterial occlusion|MYMY|Moyamoya disease, primary|Moyamoya disease, secondary|idiopathic Moyamoya disease NCIT:C84895|GARD:0007064|UMLS:C0026654|OMIM:614042|OMIM:252350|OMIM:615750|DOID:13099|SCTID:69116000|MedDRA:10028047|ICD10:I67.5|Orphanet:2573|ICD9:437.5|MESH:D009072|OMIM:607151|OMIMPS:252350|Orphanet:401945|OMIM:608796|OMIM:300845|Orphanet:280679|SCTID:89142007 owl:Class MONDO:0020266 biolink:NamedThing genodermatosis with ocular features tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98696 Reason: out of scope. This is an Orphanet grouping class that is obsolete in Orphanet and considered out of scope for Mondo.Term to consider: skin disease' MONDO_0005093 owl:Class GO:0042692 biolink:NamedThing muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a muscle cell. tmpaxzxjjyw_mondo_relaxed.owl myogenesis owl:Class GO:0030154 biolink:NamedThing cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021067 biolink:NamedThing mediastinal germ cell tumor A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor. tmpaxzxjjyw_mondo_relaxed.owl mediastinum germ cell tumor|mediastinal germ cell neoplasm|thymic germ cell tumor|mediastinal germ cell tumor|germ cell neoplasm of the mediastinum|germ cell neoplasm of mediastinum|germ cell tumor of mediastinum|germ cell tumor of the mediastinum NCIT:C6437|UMLS:C1334655 owl:Class MONDO:0021386 biolink:NamedThing neoplasm of mediastinum A neoplasm (disease) that involves the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl tumor of mediastinum|mediastinal neoplasm|mediastinum tumor|mediastinal tumor|neoplasm of the mediastinum|tumor of the mediastinum|neoplasm of mediastinum|mediastinum neoplasm (disease)|mediastinum neoplasm SCTID:126725000|NCIT:C3221|ICD9:239.89 owl:Class MONDO:0011019 biolink:NamedThing alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. tmpaxzxjjyw_mondo_relaxed.owl alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism|Devriendt-Vandenberghe-Fryns syndrome|alopecia-intellectual disability syndrome with convulsions and hypergonadotropic hypogonadism MESH:C563370|Orphanet:1014|SCTID:720981000|OMIM:601217 owl:Class MONDO:0009108 biolink:NamedThing hyperdibasic aminoaciduria type 1 Hyperdibasic aminoaciduria, type 1 is characterised by increased renal clearance of lysine, ornithine and arginine, in the presence of normal concentrations of cystine. Heterozygous individuals are asymptomatic but homozygotes display intellectual deficit. To date, 25 heterozygotes and one homozygote have been reported. tmpaxzxjjyw_mondo_relaxed.owl dibasic amino aciduria 1|dibasic aminoaciduria 1|dibasic amino aciduria type 1|dibasic amino aciduria I OMIM:222690|Orphanet:1032|UMLS:C2673736|ICD10:E72.0|MESH:C567132|GARD:0001854 https://rarediseases.info.nih.gov/diseases/1854/dibasic-aminoaciduria-1 owl:Class UBERON:0016896 biolink:NamedThing periosteum of long bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002515 biolink:NamedThing periosteum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004674 biolink:NamedThing facial nerve root tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006843 biolink:NamedThing root of cranial nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5293 biolink:NamedThing HTR2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008116 biolink:NamedThing oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness. tmpaxzxjjyw_mondo_relaxed.owl oculopharyngeal muscular dystrophy|OPMD|muscular dystrophy, oculopharyngeal OMIM:164300|Orphanet:270|DOID:11719|UMLS:C0270952|SCTID:77097004|MedDRA:10052181|NCIT:C84942|MESH:D039141|GARD:0007245|ICD10:G71.0 https://rarediseases.info.nih.gov/diseases/7245/oculopharyngeal-muscular-dystrophy owl:Class MONDO:0017890 biolink:NamedThing tubulocystic renal cell carcinoma Tubulocystic renal cell carcinoma is an extremely rare subtype of renal cell carcinoma most frequently characterized by a small, solitary, well-circumscribed, unencapsulated renal tumor composed of multiple small to medium-sized cysts with a white or gray, spongy ("bubble wrap-like") cut surface. Patients are usually asymptomatic or could manifest with abdominal pain, abdominal distension and/or hematuria. Progression, recurrence and metastasis rarely occur although lymph node, bone, pleura and liver mestatsis have been reported. tmpaxzxjjyw_mondo_relaxed.owl Tubulocystic renal cell cancer NCIT:C126303|Orphanet:319325|SCTID:733603009|ICD10:C64|UMLS:C4288091 owl:Class MONDO:0005549 biolink:NamedThing renal cell adenocarcinoma A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. tmpaxzxjjyw_mondo_relaxed.owl renal cell carcinoma|renal cell cancer|adenocarcinoma of the kidney|renal cell adenocarcinoma|RCC|adenocarcinoma of kidney|kidney adenocarcinoma|renal cell carcinoma, stage unspecified|carcinoma, renal cell, malignant ICDO:8311/1|NCIT:C9385|ICDO:8312/3|EFO:0005708 Editor note: check relationship to RCC owl:Class MONDO:0021408 biolink:NamedThing polyp of frontal sinus A polyp that involves the frontal sinus. tmpaxzxjjyw_mondo_relaxed.owl polyp of the frontal sinus|frontal sinus polyp SCTID:195759002|ICD9:471.8|NCIT:C4367|UMLS:C0339814 owl:Class GO:1905952 biolink:NamedThing regulation of lipid localization Any process that modulates the frequency, rate or extent of lipid localization. tmpaxzxjjyw_mondo_relaxed.owl regulation of lipid localisation owl:Class CHEBI:33292 biolink:NamedThing fuel An energy-rich substance that can be transformed with release of usable energy. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33232 biolink:NamedThing application Intended use of the molecular entity or part thereof by humans. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:166 biolink:NamedThing ACTN4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19899 biolink:NamedThing ZFAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000044 biolink:NamedThing Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). tmpaxzxjjyw_mondo_relaxed.owl Low gonadotropins (secondary hypogonadism)|Hypogonadotrophic hypogonadism|Isolated hypogonadotropic hypogonadism SNOMEDCT_US:33927004|UMLS:C0271623|UMLS:C3489396|MSH:D007006 HP:0008224|HP:0003335 human_phenotype owl:Class MONDO:0007327 biolink:NamedThing chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase tmpaxzxjjyw_mondo_relaxed.owl chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase|hyperlipoproteinemia, type 1C UMLS:C1861560|OMIM:118830|MESH:C566126|DOID:0111419 owl:Class MONDO:0013869 biolink:NamedThing adenine phosphoribosyltransferase deficiency Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive (AR) disorder characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. tmpaxzxjjyw_mondo_relaxed.owl 2,8-dihydroxyadeninuria disease|2,8-dihydroxyadenine urolithiasis|urolithiasis, Dha|adenine phosphoribosyltransferase deficiency|nephrolithiasis, Dha|APRT deficiency|Dihydroxyadeninuria|APRTD|urolithiasis, 2,8-dihydroxyadenine ICD10:E79.8|GARD:0000546|SCTID:124274002|Orphanet:976|MESH:C538228|DOID:0060350|GARD:0010666|UMLS:C0268120|NCIT:C121564|OMIM:614723 https://rarediseases.info.nih.gov/diseases/10666/dihydroxyadeninuria owl:Class MONDO:0004736 biolink:NamedThing inherited amino acid metabolic disorder An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria. tmpaxzxjjyw_mondo_relaxed.owl amino acid metabolism, inborn errors|inborn errors of amino acid metabolism|inborn error of amino acid metabolism|inborn amino acid metabolism disorder|inborn error of cellular amino acid metabolic process|inborn cellular amino acid metabolic process disorder|amino acid metabolic disorder|rare inborn error of cellular amino acid metabolic process DOID:9252|ICD9:270.9|SCTID:42930003|ICD9:270|MESH:D000592|ICD10:E72.9|GARD:0006770 owl:Class MONDO:0017740 biolink:NamedThing disorder of protein N-glycosylation A disease that has its basis in the disruption of protein N-linked glycosylation. tmpaxzxjjyw_mondo_relaxed.owl disorder of protein N-linked glycosylation|protein N-linked glycosylation disease UMLS:CN227187|ICD10:E77.8|Orphanet:309347 owl:Class MONDO:0018359 biolink:NamedThing neonatal dermatomyositis tmpaxzxjjyw_mondo_relaxed.owl neonatal DM Orphanet:398117|ICD10:M33.1 owl:Class GO:0120033 biolink:NamedThing negative regulation of plasma membrane bounded cell projection assembly Any process that stops, prevents or reduces the frequency, rate or extent of plasma membrane bounded cell projection assembly. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0006517 biolink:NamedThing Intraalveolar phospholipid accumulation Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. tmpaxzxjjyw_mondo_relaxed.owl Pulmonary alveolar proteinosis|Detection of PAS-positive extracellular material in broncho-alveolar lavage|Alveolar proteinosis MSH:D011649|SNOMEDCT_US:10501004|UMLS:C0034050 The periodic acid Schiff (PAS) staining is a staining method that detects polysaccharidese and mucosubstances, for example: glycogen, glyolipids, glyoproteins and mucins. It is one of the commonly used procedures in the histophathology laboratory and is easy to perfom. It may help in discriminating different forms of interstitial lung disease (ILD), especially pulmonary alveolar proteinosis (PAP). HP:0032982 human_phenotype owl:Class HP:0032973 biolink:NamedThing Abnormal bronchoalveolar lavage fluid morphology Abnormal type or counts of nucleated immune cells and acellular components in bronchoalveolar lavage (BAL) fluid. BAL us performed with a fiberoptic bronchoscope in the wedged position within a selected bronchopulmonary segment. BAL is commonly used to inform the differential diagnosis of interstitial lung disease or to monitor therapeutic interventions. tmpaxzxjjyw_mondo_relaxed.owl Red blood cells in the BAL fluid are noted (e.g. present in pulmonary hemorrhage syndromes), but not counted, Similarly epithelial cells are only noted, not included numerically into cell differential. peter human_phenotype owl:Class ECTO:9001809 biolink:NamedThing exposure to polar solvent An exposure to polar solvent. tmpaxzxjjyw_mondo_relaxed.owl exposure to polar solvent owl:Class UBERON:0035129 biolink:NamedThing pes cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015064 biolink:NamedThing autopod cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1902106 biolink:NamedThing negative regulation of leukocyte differentiation Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of leukocyte differentiation|down regulation of leukocyte differentiation|downregulation of leucocyte differentiation|down-regulation of leucocyte differentiation|down-regulation of immune cell differentiation|down regulation of leucocyte differentiation|downregulation of immune cell differentiation|inhibition of leucocyte differentiation|down regulation of immune cell differentiation|inhibition of immune cell differentiation|inhibition of leukocyte differentiation|negative regulation of immune cell differentiation|down-regulation of leukocyte differentiation|negative regulation of leucocyte differentiation owl:Class MONDO:0021130 biolink:NamedThing disorder of sphingolipid biosynthesis An acquired metabolic disease that is has its basis in the disruption of sphingolipid biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl rare inborn error of sphingolipid biosynthetic process|inborn error of sphingolipid biosynthetic process|inborn sphingolipid biosynthetic process disorder owl:Class MONDO:0008948 biolink:NamedThing cerebrotendinous xanthomatosis Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction. tmpaxzxjjyw_mondo_relaxed.owl sterol 27-hydroxylase deficiency|CTx|cerebrotendinous xanthomatosis|cerebral cholesterinosis|cholestanol storage disease DOID:4810|UMLS:C0238052|MESH:D019294|ICD10:E75.5|NCIT:C84628|SCTID:63246000|OMIM:213700|GARD:0005622|Orphanet:909 https://rarediseases.info.nih.gov/diseases/5622/cerebrotendinous-xanthomatosis owl:Class PATO:0001414 biolink:NamedThing catalytic activity A physical quality inhering in a catalyst by virtue of the amount of the catalyst's action. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042636 biolink:NamedThing negative regulation of hair cycle Any process that stops, prevents, or reduces the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. tmpaxzxjjyw_mondo_relaxed.owl inhibition of hair cycle|down regulation of hair cycle|down-regulation of hair cycle|downregulation of hair cycle owl:Class GO:0042634 biolink:NamedThing regulation of hair cycle Any process that modulates the frequency, rate or extent of the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007890 biolink:NamedThing lentiginosis, centrofacial neurodysraphic tmpaxzxjjyw_mondo_relaxed.owl lentiginosis, centrofacial neurodysraphic|lentiginosis, Touraine type OMIM:151000|MESH:C563630|UMLS:C1835484 owl:Class MONDO:0011879 biolink:NamedThing neuronopathy, distal hereditary motor, type 7B Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene. tmpaxzxjjyw_mondo_relaxed.owl HMN7B|neuronopathy, distal hereditary motor, type VIIB|DCTN1 neuronopathy, distal hereditary motor|neuropathy, distal hereditary motor, with vocal cord paralysis, type 7B|neuronopathy, distal hereditary motor caused by mutation in DCTN1|Dhmn7B|HMN 7B|neuropathy, distal hereditary motor, type 7B|Lower motor neuron disease, dynactin type DOID:0111202|Orphanet:139589|UMLS:C1843315|OMIM:607641|MESH:C564362 owl:Class MONDO:0000075 biolink:NamedThing neuronopathy, distal hereditary motor tmpaxzxjjyw_mondo_relaxed.owl See genetic heterogeneity of OMIM 182960. owl:Class MONDO:0000045 biolink:NamedThing hypothyroidism, congenital, nongoitrous tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:275200 owl:Class MONDO:0018612 biolink:NamedThing congenital hypothyroidism A thyroid hormone deficiency present from birth. tmpaxzxjjyw_mondo_relaxed.owl fetal iodine deficiency syndrome|cretinism|congenital hypothyroidism|infantile hypothyroidism|congenital iodine deficiency syndrome|congenital hypothyroidism not due to iodine deficiency|congenital goiter ICD9:759.89|OMIM:609893|NCIT:C26734|ICD10:E03.0|SCTID:190268003|GARD:0001487|OMIM:225250|DOID:0050328|OMIM:274900|OMIM:274500|OMIM:614450|ICD10:E00.1|NCIT:C98921|OMIM:218700|ICD9:243|Orphanet:442|ICD10:E03.1|OMIM:607200|ICD9:269.3|ICD10:E00.2|ICD10:E00.9|ICD10:E00.0|OMIM:274400|OMIM:274700|SCTID:217710005|UMLS:C0010308|OMIM:275200|MedDRA:10010510|MESH:D003409|OMIM:275100 owl:Class HGNC:18654 biolink:NamedThing RTTN tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000775 biolink:NamedThing neutrophil Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. tmpaxzxjjyw_mondo_relaxed.owl poly|neutrophil leukocyte|neutrophilic leucocyte|neutrophilic leukocyte|polymorphonuclear leucocyte|polynuclear neutrophilic leucocyte|polymorphonuclear neutrophil|polynuclear neutrophilic leukocyte|PMN|neutrophil leucocyte|polymorphonuclear leukocyte|neutrocyte FMA:62860|CALOHA:TS-0688|BTO:0000130 cell owl:Class CL:0000094 biolink:NamedThing granulocyte A leukocyte with abundant granules in the cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl granular leukocyte|polymorphonuclear leukocyte|granular leucocyte CALOHA:TS-0422|FMA:62854|BTO:0001026|BTO:0000539 cell owl:Class MONDO:0016879 biolink:NamedThing partial deletion of chromosome 17 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 17|partial deletion of chromosome type 17 Orphanet:261831|ICD10:Q93.5 owl:Class MONDO:0007250 biolink:NamedThing camptodactyly of fingers Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected. tmpaxzxjjyw_mondo_relaxed.owl crooked little finger, familial|camptodactyly 1|familial streblodactyly|CAMPD1|streblodactyly|camptodactyly and knuckle pads|minor streblomicrodactyly, familial Orphanet:295016|MESH:C536852|ICD10:Q68.1|MESH:C567780|ICD9:755.59|GARD:0009448|SCTID:29271008|OMIM:114200 https://rarediseases.info.nih.gov/diseases/9448/familial-streblodactyly owl:Class MONDO:0017428 biolink:NamedThing congenital deformities of fingers tmpaxzxjjyw_mondo_relaxed.owl Orphanet:294947|ICD10:Q68.1 owl:Class GO:1904689 biolink:NamedThing negative regulation of cytoplasmic translational initiation Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational initiation. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of cytoplasmic translational initiation|down regulation of cytoplasmic translational initiation|inhibition of cytoplasmic translational initiation|downregulation of cytoplasmic translational initiation owl:Class MONDO:0012038 biolink:NamedThing speech-sound disorder tmpaxzxjjyw_mondo_relaxed.owl speech-sound disorder|SSD OMIM:608445|MESH:C563928|UMLS:C4078288 owl:Class UBERON:0002294 biolink:NamedThing biliary system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001056 biolink:NamedThing gastric cancer A primary or metastatic malignant neoplasm involving the stomach. tmpaxzxjjyw_mondo_relaxed.owl malignant gastric tumor|malignant tumor of greater curve of stomach|malignant neoplasm of lesser curve of stomach|gastric cancer, intestinal|malignant neoplasm of body of stomach|malignant gastric neoplasm|malignant tumor of stomach|cancer of stomach|malignant stomach neoplasm|malignant tumor of body of stomach|Ca lesser curvature - stomach|gastric cancer|malignant tumor of the stomach|gastric neoplasm|malignant neoplasm of stomach|malignant tumor of lesser curve of stomach|Ca body - stomach|stomach cancer|ca greater curvature of stomach|malignant neoplasm of the stomach ICD9:151.4|UMLS:C0038356|Orphanet:63443|ICD10:C16|OMIM:137215|ICD10:C16.5|ICD9:151.5|DOID:10534|SCTID:126824007|ICD9:151|NCIT:C9331|ICD10:C16.2|ICD10:C16.6|ICD9:151.9|ICD10:C16.9|UMLS:C0699791|ICD9:151.6|MESH:D013274|OMIM:613659|GARD:0007704 owl:Class CL:0002180 biolink:NamedThing mucous cell of stomach A mucous cell in the epithelium of the stomach. tmpaxzxjjyw_mondo_relaxed.owl FMA:63464 tmeehan 2010-08-25T03:38:51Z CL:1000404 cell owl:Class CL:0002178 biolink:NamedThing epithelial cell of stomach An epithelial cell found in the lining of the stomach. tmpaxzxjjyw_mondo_relaxed.owl FMA:62948 tmeehan 2010-08-25T03:22:08Z CL:1000399 cell owl:Class MONDO:0004471 biolink:NamedThing bacterial arthritis The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. tmpaxzxjjyw_mondo_relaxed.owl pyogenic arthritis|septic arthritis|infectious arthritis ICD9:711.94|NCIT:C26700|SCTID:48245008|NCIT:C26699|EFO:1001351|DOID:813|ICD9:711.92|ICD9:711.93|ICD10:M00.9|ICD9:711.97|ICD9:711.9|ICD9:711.90|ICD9:711.40|ICD9:711.91|ICD9:711.95|ICD9:711.96|ICD10:M00|MESH:D001170|ICD9:711.0 owl:Class MONDO:0042485 biolink:NamedThing infective arthritis The inflammation of one or more joints caused by any infectious pathogen within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint. tmpaxzxjjyw_mondo_relaxed.owl infective arthritis|septic arthritis GARD:0006781|NCIT:C26700 owl:Class GO:2001199 biolink:NamedThing negative regulation of dendritic cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000820 biolink:NamedThing regulation of glutamine family amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. tmpaxzxjjyw_mondo_relaxed.owl regulation of glutamine family amino acid metabolism owl:Class MONDO:0002047 biolink:NamedThing pulmonary systemic sclerosis tmpaxzxjjyw_mondo_relaxed.owl lung involvement in systemic sclerosis|scleroderma of lung|scleroderma lung disease|lung disease with systemic sclerosis DOID:1578|UMLS:C0339904|SCTID:196133001|ICD9:517.2|ICD10:M34.81 owl:Class MONDO:0005100 biolink:NamedThing systemic sclerosis A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension. tmpaxzxjjyw_mondo_relaxed.owl PSS (progressive systemic sclerosis)|Scleroderma, diffuse|SSc|Scleroderma, systemic|systemic sclerosis|diffuse Scleroderma|systemic scleroderma|diffuse sclerosis|Scleroderma (& [systemic sclerosis])|Scleroderma|SSc, diffuse sclerosis|systemic Scleroderma|progressive systemic sclerosis|Scleroderma syndrome ICD10:M34.0|ICD9:710.1|SCTID:89155008|ICD10:M34.2|ICD10:M34.1|NCIT:C72070|UMLS:CN206012|GARD:0009748|EFO:0000717|ICD10:M34.9|OMIM:181750|ICD10:M34.8|MESH:D012595|MedDRA:10042953|Orphanet:90291|DOID:418 owl:Class HP:0500165 biolink:NamedThing Abnormal blood oxygen level An abnormality of the partial pressure of oxygen in the arterial blood. tmpaxzxjjyw_mondo_relaxed.owl Abnormal blood oxygen levels|Abnromal O2 blood concentration|Abnormal blood O2 level 2018-10-17 15:14:35+00:00 http://orcid.org/0000-0001-7941-2961 human_phenotype owl:Class HP:0012415 biolink:NamedThing Abnormal blood gas level An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. tmpaxzxjjyw_mondo_relaxed.owl Abnormal blood gas level UMLS:C0476337|SNOMEDCT_US:312391003 peter 2013-11-10T04:59:20Z human_phenotype owl:Class MONDO:0003109 biolink:NamedThing foramen magnum meningioma A meningioma that affects the foramen magnum. tmpaxzxjjyw_mondo_relaxed.owl foramen magnum meningioma (disease)|meningioma (disease) of foramen magnum|meningioma of Foramen magnum|meningioma of the Foramen magnum NCIT:C5280|UMLS:C1333630|DOID:4708 owl:Class MONDO:0016642 biolink:NamedThing meningioma A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade I tumors, and some are WHO grade II or III tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl supratentorial meningioma|intracranial meningioma|meningioma (disease)|meningothelial cell tumor|primary meningeal tumor|meningioma|meningeal neoplasm meningioma (disease) SCTID:302820008|UMLS:C0025286|UMLS:C0025284|ICD10:D32.9|SCTID:126965008|DOID:3565|ONCOTREE:MNG|NCIT:C3230|HP:0002858|MedDRA:10027191|MESH:D008579|ICDO:9530/0|OMIM:606190|Orphanet:2495|NCIT:C3229|GARD:0007015 owl:Class MONDO:0004667 biolink:NamedThing sublingual gland cancer A rare malignant neoplasm that arises from the sublingual gland. The majority are carcinomas. tmpaxzxjjyw_mondo_relaxed.owl cancer of sublingual gland|malignant tumor of the sublingual gland|malignant neoplasm of the sublingual gland|malignant sublingual gland tumor|malignant tumor of sublingual gland|malignant neoplasm of sublingual gland|malignant sublingual gland neoplasm|sublingual gland cancer NCIT:C3527|SCTID:363381003|UMLS:C0153361|DOID:8849|ICD10:C08.1|ICD9:142.2 owl:Class MONDO:0021242 biolink:NamedThing sublingual gland neoplasm A neoplasm (disease) that involves the sublingual gland. tmpaxzxjjyw_mondo_relaxed.owl sublingual gland neoplasm (disease)|tumor of the sublingual gland|tumor of sublingual gland|neoplasm of sublingual gland|sublingual gland tumor|neoplasm of the sublingual gland NCIT:C3392|MESH:D013362|UMLS:C0038554|SCTID:126790004|EFO:1001430 owl:Class MONDO:0001222 biolink:NamedThing congenital T-cell immunodeficiency A broad classification of inherited disorders presenting at birth that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. tmpaxzxjjyw_mondo_relaxed.owl T cell deficiency|congenital T-cell immunodeficiency DOID:11200|NCIT:C27872|UMLS:C1333147 owl:Class MONDO:0003780 biolink:NamedThing T-cell immunodeficiency A broad classification of disorders that affect the cell-mediated aspect of the immune response. Circulating numbers of T lymphocytes are decreased or ineffective. tmpaxzxjjyw_mondo_relaxed.owl T lymphocyte deficiency|T-lymphocyte deficiency (finding)|T-lymphocyte immunodeficiency|T-cell immunodeficiency NCIT:C27145|UMLS:C1274233|SCTID:402792003|DOID:613 owl:Class MONDO:0007280 biolink:NamedThing cataract 8 multiple types A cataract that has material basis in variation in the region 1pter-p36.13. tmpaxzxjjyw_mondo_relaxed.owl cataract 8, multiple types|CTRCT8|cataract, congenital, Volkmann type|cataract congenital Volkmann type GARD:0001146|DOID:0110228|UMLS:C1861833|Orphanet:98983|MESH:C538285|Orphanet:91492|OMIM:115665|ICD10:Q12.0 owl:Class GO:0009126 biolink:NamedThing purine nucleoside monophosphate metabolic process The chemical reactions and pathways involving purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine nucleoside monophosphate metabolism owl:Class UBERON:8300002 biolink:NamedThing left forelimb tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014395 biolink:NamedThing proximal mesopodial bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8881 biolink:NamedThing PFN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002187 biolink:NamedThing vulvar disease A non-neoplastic or neoplastic disorder that affects the vulva. Representative examples include infection, Bartholin gland adenoma, and vulvar carcinoma. tmpaxzxjjyw_mondo_relaxed.owl vulvar disease|disorder of vulva|vulval disorder|vulvar disorder NCIT:C27631|UMLS:C0042994|DOID:2059|MESH:D014845|SCTID:5089007 owl:Class MONDO:0012172 biolink:NamedThing mitochondrial trifunctional protein deficiency Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy.. tmpaxzxjjyw_mondo_relaxed.owl trifunctional Protein deficiency with myopathy and neuropathy|mitochondrial trifunctional protein deficiency|MTPD|TFPD|TFP deficiency|mitochondrial trifunctional PROTEIN deficiency|trifunctional Protein deficiency MESH:C566945|Orphanet:746|OMIM:609015|ICD10:G71.3|SCTID:237999008|NCIT:C98991|ICD9:277.85|GARD:0003684|DOID:0111277 https://rarediseases.info.nih.gov/diseases/3684/mitochondrial-trifunctional-protein-deficiency owl:Class MONDO:0020470 biolink:NamedThing 49,XYYYY syndrome 49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518342|ICD10:Q98.8|SCTID:734028007|UMLS:CN207332|Orphanet:99330 owl:Class MONDO:0700028 biolink:NamedThing chromosome Y disorder Chromosomal disorder in which chromosome Y is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0003649 biolink:NamedThing esophageal neuroendocrine tumor A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the esophagus. tmpaxzxjjyw_mondo_relaxed.owl esophageal NET|esophagus neuroendocrine neoplasm|esophageal well differentiated endocrine tumor/carcinoma|esophageal NEN|esophagus NET|NEN of esophagus|esophagus neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of esophagus|esophageal neuroendocrine tumor|esophageal neuroendocrine neoplasm|neuroendocrine tumor of esophagus|esophageal well differentiated endocrine tumor|esophagus neuroendocrine tumor Orphanet:506136|UMLS:C1333462|DOID:5784|UMLS:C2987260|NCIT:C95616 owl:Class MONDO:0005724 biolink:NamedThing cryptococcosis An acute or chronic, localized or disseminated infection by Cryptococcus neoformans. Sites of involvement include the lungs, central nervous system and meninges, skin, and visceral organs.--2004 tmpaxzxjjyw_mondo_relaxed.owl torulosis|Cryptococcus neoformans infectious disease|Cryptococcus neoformans disease or disorder|European cryptococcosis|cryptococcus neoformans infection|Busse-Buschke's disease|Cryptococcal infection|Cryptococcus neoformans caused disease or disorder|torula SCTID:42386007|GARD:0006218|ICD10:B45|MedDRA:10011490|ICD10:B45.0|NCIT:C2967|UMLS:C0010414|ICD10:B45.2|MESH:D003453|ICD9:117.5|ICD10:B45.3|Orphanet:1546|ICD10:B45.7|DOID:12053|ICD10:B45.9|EFO:0007229|ICD10:B45.8|ICD10:B45.1 https://rarediseases.info.nih.gov/diseases/6218/cryptococcosis owl:Class MONDO:0002312 biolink:NamedThing opportunistic mycosis A mycosis that arises from infection in an immunologically compromised host. tmpaxzxjjyw_mondo_relaxed.owl opportunistic mycoses|opportunistic systemic mycoses SCTID:78999002|UMLS:C0029119|ICD9:117.9|DOID:2473|ICD9:118 owl:Class MONDO:0010222 biolink:NamedThing X-linked Opitz G/BBB syndrome X-linked form of Opitz G/BBB syndrome. tmpaxzxjjyw_mondo_relaxed.owl X-linked Opitz syndrome|Opitz GBBB syndrome, type 1|Opitz G/BBB syndrome, X-linked|Opitz GBBB syndrome, X-linked|Opitz syndrome, X-linked|GBBB1|Opitz GBBB syndrome, type I|Opitz-G syndrome, type 1|X-linked Opitz G/BBB syndrome|hypertelorism with esophageal Abnormality and hypospadias|hypertelorism-hypospadias syndrome|Opitz Bbbg syndrome, type 1|Opitz syndrome|telecanthus-hypospadias syndrome|XLOS|X-linked Opitz BBB/G syndrome Orphanet:306597|Orphanet:2745|OMIM:300000|ICD10:Q87.8 owl:Class MONDO:0017138 biolink:NamedThing Opitz G/BBB syndrome Opitz G/BBB syndrome (OS) is a multiple congenital anomalies disorder characterized by malformations of the midline including hypertelorism, laryngo-tracheo-esophalgeal defects and hypospadias. There are two clinically indistinguishable genetic subtypes of Opitz G/BBB: X-linked Opitz G/BBB syndrome (XLOS), and autosomal dominant Opitz G/BBB syndrome (ADOS). tmpaxzxjjyw_mondo_relaxed.owl Opitz G/BBB syndrome|hypospadias-hypertelorism syndrome|Opitz GBBB syndrome|G syndrome|BBB syndrome|telecanthus with associated abnormalities|hypertelorism-oesophageal abnormality-hypospadias syndrome|Opitz-Frias syndrome|hypospadias-dysphagia, syndrome|GBBB syndrome|hypertelorism hypospadias syndrome|hypertelorism with esophageal abnormality and hypospadias|hypospadias-dysphagia syndrome|Opitz BBBG syndrome|Opitz G syndrome|Opitz-G syndrome, type 2|Opitz-GBBB syndrome|Opitz syndrome OMIMPS:300000|UMLS:CN202554|SCTID:81771002|GARD:0000193|Orphanet:2745|KEGG:H00583|OMIM:300000|DOID:0050780|ICD9:758.89|OMIM:145410|NCIT:C125487|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/193/opitz-gbbb-syndrome owl:Class MONDO:0001666 biolink:NamedThing retinal dystrophies primarily involving Bruch's membrane A retinal dystrophy with etiology arising from Bruch's membrane, the site of drusen generation. tmpaxzxjjyw_mondo_relaxed.owl inherited retinal dystrophy of Bruch's membrane|Bruch's membrane inherited retinal dystrophy|retinal dystrophies primarily involving Bruch membrane DOID:13227|ICD9:362.77 Editor note: This class originated in DO from ICD9, it is not in ICD10 and does not appear to be a general grouping owl:Class MONDO:0001898 biolink:NamedThing optic choroid disorder A disease involving the optic choroid. tmpaxzxjjyw_mondo_relaxed.owl choroid disease|optic choroid disease or disorder|disorder of optic choroid|optic choroid disease|disease of optic choroid|choroid disorder|disease or disorder of optic choroid UMLS:C0008521|ICD9:363.8|DOID:1417|SCTID:128468007|ICD9:363.9|NCIT:C34468|MESH:D015862|ICD10:H31.9 owl:Class MONDO:0006417 biolink:NamedThing small intestinal diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that arises from the small intestine. tmpaxzxjjyw_mondo_relaxed.owl small intestine diffuse large B-cell lymphoma|small intestinal diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of small intestine NCIT:C96055|UMLS:C3272522|EFO:1000534 owl:Class MONDO:0100132 biolink:NamedThing intrahepatic bile duct adenosquamous carcinoma An adenosquamous carcinoma that arises from the intrahepatic bile ducts. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0001487 biolink:NamedThing intrahepatic bile duct cancer A cancer that involves the intrahepatic bile duct. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of intrahepatic bile duct|malignant neoplasm of intrahepatic bile ducts|malignant neoplasm of intrahepatic biliary passages|cancer of intrahepatic bile duct|Ca intrahepatic bile ducts|malignant intrahepatic bile duct neoplasm UMLS:C0546835|DOID:12298|ICD9:155.1|SCTID:187777008 owl:Class MONDO:0018282 biolink:NamedThing qualitative or quantitative defects of alpha-dystroglycan tmpaxzxjjyw_mondo_relaxed.owl qualitative or quantitative defects of alpha-dystroglycan|dystroglycanopathy|Alpha-dystroglycanopathy ICD10:G71.2|Orphanet:371024 owl:Class MONDO:0025136 biolink:NamedThing tuberculosis, bovine An infection of cattle caused by mycobacterium bovis. It is transmissible to man and other animals. tmpaxzxjjyw_mondo_relaxed.owl bovine tuberculosis|Tuberculoses, bovine|bovine Tuberculoses MESH:D014380|EFO:1001441|UMLS:C0041307 owl:Class MONDO:0018067 biolink:NamedThing triploidy Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl triploidy syndrome|chromosome triploidy syndrome|triploid syndrome MESH:D057885|ICD9:758.89|Orphanet:3376|GARD:0005295|NCIT:C85204|UMLS:C0333693|SCTID:66651005|ICD10:Q92.7 https://rarediseases.info.nih.gov/diseases/5295/triploidy owl:Class MONDO:0019934 biolink:NamedThing polyploidy The chromosomal constitution of a cell containing multiples of the normal number of chromosomes; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc. tmpaxzxjjyw_mondo_relaxed.owl SCTID:72991005|MESH:D011123|Orphanet:96321|ICD10:Q92.7 owl:Class MONDO:0008808 biolink:NamedThing aplasia cutis congenita-intestinal lymphangiectasia syndrome Aplasia cutis congenita - intestinal lymphangiectasia is an extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985. tmpaxzxjjyw_mondo_relaxed.owl aplasia cutis congenita with intestinal lymphangiectasia|autosomal recessive aplasia cutis|Bronspiegel-Zelnick syndrome|aplasia cutis congenita intestinal lymphangiectasia|ACC with intestinal lymphangiectasia MESH:C537788|Orphanet:1116|SCTID:720500008|GARD:0000753|OMIM:207731 owl:Class UBERON:0010065 biolink:NamedThing auditory meatus epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015814 biolink:NamedThing outer ear epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9411 biolink:NamedThing PRKCSH tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0001054 biolink:NamedThing CD14-positive monocyte A monocyte that expresses CD14 and is negative for the lineage markers CD3, CD19, and CD20. tmpaxzxjjyw_mondo_relaxed.owl monocyte This cell type is compatible with the HIPC Lyoplate markers for 'monocyte'. Note that while CD14 is considered a reliable marker for human monocytes, it is only expressed on approximately 85% of mouse monocytes. cell owl:Class CL:0000576 biolink:NamedThing monocyte Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. tmpaxzxjjyw_mondo_relaxed.owl BTO:0000876|CALOHA:TS-0638|FMA:62864 Morphology: Mononuclear cell, diameter, 14 to 20 _M, N/C ratio 2:1-1:1. Nucleus may appear in variety of shapes: round, kidney, lobulated, or convoluted. Fine azurophilic granules present; markers: CD11b (shared with other myeloid cells), human: CD14, mouse: F4/80-mid,GR1-low; location: Blood, but can be recruited into tissues; role or process: immune & tissue remodelling; lineage: hematopoietic, myeloid. cell owl:Class GO:0002580 biolink:NamedThing regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that modulates the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. tmpaxzxjjyw_mondo_relaxed.owl regulation of peptide or polysaccharide antigen processing and presentation via MHC class II owl:Class CL:1000803 biolink:NamedThing kidney inner medulla interstitial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001093 cell owl:Class CL:1000682 biolink:NamedThing kidney medulla interstitial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001092 cell owl:Class HGNC:18626 biolink:NamedThing IFT27 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0061702 biolink:NamedThing inflammasome complex A cytosolic protein complex that is capable of activating caspase-1. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032991 biolink:NamedThing protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. tmpaxzxjjyw_mondo_relaxed.owl macromolecule complex|protein-protein complex|protein complex|macromolecular complex|protein containing complex owl:Class MONDO:0014746 biolink:NamedThing SLC39A8-CDG tmpaxzxjjyw_mondo_relaxed.owl CDG syndrome type IIn|carbohydrate deficient glycoprotein syndrome type IIn|CDG IIn|congenital disorder of glycosylation type IIn|congenital disorder of glycosylation, type IIn|CDG2N|congenital disorder of glycosylation type 2n|CDG-IIn|SLC39A8 deficiency Orphanet:468699|UMLS:CN234734|DOID:0070266|UMLS:C4225234|OMIM:616721 owl:Class CHEBI:33304 biolink:NamedThing chalcogen molecular entity Any p-block molecular entity containing a chalcogen. tmpaxzxjjyw_mondo_relaxed.owl chalcogen molecular entity|chalcogen compounds|chalcogen molecular entities owl:Class UBERON:0002106 biolink:NamedThing spleen tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0017672 biolink:NamedThing abdominal viscera tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004332 biolink:NamedThing fructose-bisphosphate aldolase activity Catalysis of the reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde-3-phosphate. tmpaxzxjjyw_mondo_relaxed.owl fructose 1-phosphate aldolase activity|fructose 1,6-diphosphate aldolase activity|diphosphofructose aldolase activity|fructose diphosphate aldolase activity|zymohexase activity|phosphofructoaldolase activity|fructose 1-monophosphate aldolase activity|fructose-1,6-bisphosphate triosephosphate-lyase activity|ketose 1-phosphate aldolase activity|aldolase activity|D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase (glycerone-phosphate-forming)|D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase activity|1,6-diphosphofructose aldolase activity|SMALDO|fructoaldolase activity owl:Class GO:0016832 biolink:NamedThing aldehyde-lyase activity Catalysis of the cleavage of a C-C bond in a molecule containing a hydroxyl group and a carbonyl group to form two smaller molecules, each being an aldehyde or a ketone. tmpaxzxjjyw_mondo_relaxed.owl aldolase activity owl:Class GO:0048519 biolink:NamedThing negative regulation of biological process Any process that stops, prevents, or reduces the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl down regulation of biological process|negative regulation of physiological process|inhibition of biological process|down-regulation of biological process|downregulation of biological process owl:Class HGNC:61 biolink:NamedThing ABCD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004902 biolink:NamedThing interstitial keratitis tmpaxzxjjyw_mondo_relaxed.owl DOID:9857|ICD9:370.50|UMLS:C0155088|ICD10:H16.30 owl:Class UBERON:0001679 biolink:NamedThing ethmoid bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011164 biolink:NamedThing neurocranium bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013279 biolink:NamedThing diaphysis of fibula tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004769 biolink:NamedThing diaphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017289 biolink:NamedThing fetal lung interstitial tumor tmpaxzxjjyw_mondo_relaxed.owl immature interstitial mesenchymal tumor|flit Orphanet:284362|UMLS:CN202863 owl:Class HGNC:4892 biolink:NamedThing HGD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008056 biolink:NamedThing myotonic dystrophy type 1 Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness. tmpaxzxjjyw_mondo_relaxed.owl dystrophia myotonica 1|Steinert syndrome|Steinert disease|Steinert myotonic dystrophy|myotonic dystrophy 1|DMPK myotonic dystrophy|dystrophia myotonica type 1|DM1|dystrophia myotonica|myotonic dystrophy caused by mutation in DMPK|myotonic dystrophy of Steinert|Steinert's disease|myotonic dystrophy type 1|MD1|Steinert myotonic dystrophy syndrome DOID:11722|Orphanet:273|ICD9:359.21|MESH:D009223|ICD10:G71.11|GARD:0008310|OMIM:160900|NCIT:C84679|ICD10:G71.1|UMLS:C0027126|NCIT:C84914 owl:Class NCBITaxon:2701 biolink:NamedThing Gardnerella tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:31953 biolink:NamedThing Bifidobacteriaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:19244447 ncbi_taxonomy owl:Class MONDO:0006130 biolink:NamedThing central nervous system neoplasm A benign or malignant, primary or metastatic neoplasm that affects the brain, meninges, or spinal cord. Representative examples of primary neoplasms include astrocytoma, oligodendroglioma, ependymoma, and meningioma. Representative examples of metastatic neoplasms include carcinoma and leukemia. tmpaxzxjjyw_mondo_relaxed.owl central nervous system neoplasm (disease)|tumor of CNS|CNS neoplasm|neoplasm of central nervous system|neoplasm of the central nervous system|central nervous system tumor|CNS tumor|central nervous system neoplasm|neoplasm of CNS|tumor of the CNS|tumor of central nervous system|tumor of the central nervous system|brain/spinal cord tumor NCIT:C9293|EFO:1000158 owl:Class MONDO:0015606 biolink:NamedThing Xp22.3 microdeletion syndrome Xp22.3 microdeletion syndrome is a microdeletion syndrome resulting from a partial deletion of the chromosome X. Phenotype is highly variable (depending on length of deletion), but is mainly characterized by X linked ichthyosis, mild-moderate intellectual deficit, Kallmann syndrome, short stature, chondrodysplasia punctata and ocular albinism. Epilepsy, attention deficit-hyperactivity disorder, autism and difficulties with social communication can be associated. tmpaxzxjjyw_mondo_relaxed.owl Del(X)(p23) Orphanet:1643|SCTID:726733007|ICD10:Q99.8|UMLS:CN199978|GARD:0013170 https://rarediseases.info.nih.gov/diseases/13170/xp223-microdeletion-syndrome owl:Class MONDO:0017004 biolink:NamedThing partial monosomy of the short arm of chromosome X tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome Xp|partial monosomy of chromosome Xp|partial monosomy of the short arm of chromosome type X|partial deletion of the short arm of chromosome X Orphanet:263731|ICD10:Q99.8 owl:Class MONDO:0010364 biolink:NamedThing X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, with retinitis pigmentosa|intellectual disability, X-linked, with retinitis pigmentosa|nonspecific mental retardation associated with retinitis pigmentosa|X-linked mental handicap-retinitis pigmentosa syndrome|chromosome Xp11.3 deletion syndrome|nonspecific intellectual disability associated with retinitis pigmentosa|retinitis pigmentosa and intellectual disability due to del(X)(p11.3)|retinitis pigmentosa and intellectual disability due to monosomy Xp11.3|retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion|Aldred syndrome UMLS:C0795873|Orphanet:85332|GARD:0008360|SCTID:719808002|ICD10:H35.5|OMIM:300578 owl:Class UBERON:0004230 biolink:NamedThing urinary bladder neck smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002930 biolink:NamedThing kidney sarcoma A sarcoma involving a kidney. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of kidney|renal sarcoma|kidney sarcoma|sarcoma of the kidney UMLS:C0346251|ICD9:189.0|NCIT:C4525|DOID:4242|SCTID:254918001 owl:Class UBERON:0007307 biolink:NamedThing pronephric glomerular basement membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005777 biolink:NamedThing glomerular basement membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0093001 biolink:NamedThing glycolysis from storage polysaccharide through glucose-1-phosphate The chemical reactions and pathways resulting in the breakdown of a storage polysaccharide into pyruvate through a glucose-1-phosphate intermediate, with the concomitant production of a small amount of ATP and the reduction of NAD to NADH. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000272 biolink:NamedThing polysaccharide catabolic process The chemical reactions and pathways resulting in the breakdown of a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpaxzxjjyw_mondo_relaxed.owl polysaccharide breakdown|multicellular organismal polysaccharide catabolic process|polysaccharide degradation|polysaccharide catabolism owl:Class MONDO:0003035 biolink:NamedThing ovarian angiosarcoma A malignant vascular neoplasm arising from the ovary. tmpaxzxjjyw_mondo_relaxed.owl angiosarcoma of the ovary|angiosarcoma (disease) of ovary|ovarian hemangiosarcoma|angiosarcoma of ovary|ovary angiosarcoma (disease)|hemangiosarcoma of ovary|hemangiosarcoma of the ovary UMLS:C1335152|DOID:4527|NCIT:C5232 owl:Class MONDO:0014850 biolink:NamedThing retinitis pigmentosa and erythrocytic microcytosis tmpaxzxjjyw_mondo_relaxed.owl RPEM|retinitis pigmentosa and erythrocytic microcytosis|retinitis pigmentosa and erythrocytic microcytosis; RPEM OMIM:616959|UMLS:C4310776 owl:Class HGNC:24592 biolink:NamedThing STEAP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001263 biolink:NamedThing histoplasmosis retinitis An retinitis caused by infection with Histoplasma capsulatum. tmpaxzxjjyw_mondo_relaxed.owl Histoplasma capsulatum retinitis|Histoplasma capsulatum caused retinitis|histoplasmosis with retinitis ICD9:115.92|UMLS:C0153278|SCTID:187058000|DOID:11316 owl:Class MONDO:0020944 biolink:NamedThing fungal infection of eye Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses. tmpaxzxjjyw_mondo_relaxed.owl Fungal Ocular Infections|Fungal Eye Infection|Mycoses, Ocular|ocular mycosis|Oculomycosis|Ocular Infection, Fungal|Fungal eye infection|FUNGAL EYE INFECT|EYE INFECT FUNGAL|Eye Infections, Fungal|Mycosis, Ocular|Ocular Mycotic Infection|fungal eye infection|Ocular Mycoses|Infections, Fungal Eye|Infection, Fungal Ocular|Infection, Ocular Mycotic|Mycotic Infections, Ocular|Oculomycoses|Ocular Mycosis|Fungal Eye Infections|OCULAR INFECT FUNGAL|Ocular Mycotic Infections|MYCOTIC INFECT OCULAR|Infections, Fungal Ocular|fungal infection of eye|Fungal Ocular Infection|Ocular Infections, Fungal|Infections, Ocular Mycotic|Infection, Fungal Eye|Ocular mycosis|Mycotic Infection, Ocular|Fungal infection of eye|Eye Infection, Fungal SCTID:31194008|MESH:D015821|ICD9:117.9|UMLS:C0015405 owl:Class ECTO:9001347 biolink:NamedThing exposure to sodium chloride An exposure to sodium chloride. tmpaxzxjjyw_mondo_relaxed.owl exposure to sodium chloride owl:Class CHEBI:51086 biolink:NamedThing chemical role A role played by the molecular entity or part thereof within a chemical context. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:50906 biolink:NamedThing role A role is particular behaviour which a material entity may exhibit. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002844 biolink:NamedThing lymphocytic gastritis tmpaxzxjjyw_mondo_relaxed.owl lymphocytic gastritis DOID:4035|NCIT:C27051|UMLS:C1283271|ICD9:535.40|SCTID:360375007 owl:Class MONDO:0005620 biolink:NamedThing cerebral amyloid angiopathy Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. tmpaxzxjjyw_mondo_relaxed.owl cerebral amyloid angiopathy, genetic|CAA, familial|HCHWA|dutch hereditary cerebral amyloid angiopathy|cerebral amyloid angiopathy, familial|hereditary cerebral haemorrhage with amyloidosis - Dutch type GARD:0010266|OMIM:117300|EFO:0006790|ICD10:I68.0*|ICD10:I68.0|Orphanet:85458|OMIM:176500|SCTID:56453003|SCTID:230724001|ICD9:277.39|DOID:9246|NCIT:C84625|ICD10:E85.4+|OMIM:605714|MESH:D016657|OMIM:105150 owl:Class MONDO:0020142 biolink:NamedThing metabolic disease with dementia tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN207023|Orphanet:98543 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class GO:0051129 biolink:NamedThing negative regulation of cellular component organization Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpaxzxjjyw_mondo_relaxed.owl inhibition of cell organization|negative regulation of cell organisation|down regulation of cell organization|down-regulation of cell organization|downregulation of cell organization|negative regulation of cellular component organization and biogenesis owl:Class MONDO:0700021 biolink:NamedThing chromosome 14 disorder Chromosomal disorder in which chromosome 14 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0010258 biolink:NamedThing MEHMO syndrome MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|X-linked MEHMO syndrome|syndromic X-linked mental retardation 25|mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity|intellectual disability, X-linked, syndromic 20|mental retardation, X-linked, syndromic, Borck type|MEHMO|MRXS25|intellectual disability, X-linked, syndromic, Borck type; MRXSBRK|syndromic X-linked mental retardation 20|MRXS20|mental retardation, X-linked, syndromic 20|syndromic X-linked intellectual disability 25|X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|intellectual disability, X-linked, syndromic, Borck type|intellectual disability, X-linked, syndromic 25|MEHMO syndrome|syndromic X-linked intellectual disability 20|MRXSBRK|mental retardation, X-linked, syndromic 25 UMLS:C4310813|UMLS:C1846278|GARD:0009178|Orphanet:85282|DOID:0060801|ICD10:Q87.8|MESH:C537451|SCTID:722037004|OMIM:300987|OMIM:300148 owl:Class MONDO:0016565 biolink:NamedThing syndromic genetic obesity tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with obesity (disease)|syndromic obesity (disease) UMLS:CN226963|Orphanet:240371 owl:Class CHEBI:33767 biolink:NamedThing cobalt group molecular entity tmpaxzxjjyw_mondo_relaxed.owl cobalt group molecular entities|cobalt group molecular entity owl:Class CHEBI:33676 biolink:NamedThing d-block molecular entity A d-block molecular entity is a molecular entity containing one or more atoms of a d-block element. tmpaxzxjjyw_mondo_relaxed.owl d-block molecular entities|d-block molecular entity|d-block compounds owl:Class MONDO:0009471 biolink:NamedThing intrinsic factor and r binder, combined congenital deficiency of tmpaxzxjjyw_mondo_relaxed.owl intrinsic factor and r binder, combined congenital deficiency of Orphanet:332|OMIM:243320|UMLS:C1855721|MESH:C565461 owl:Class MONDO:0009852 biolink:NamedThing hereditary intrinsic factor deficiency Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities. tmpaxzxjjyw_mondo_relaxed.owl intrinsic factor, congenital deficiency of|IFD|congenital intrinsic factor deficiency|hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency|congenital pernicious anemia due to defect of intrinsic factor|intrinsic factor deficiency|congenital pernicious anemia|pernicious Anemia, congenital, due to defect of intrinsic Factor|gastric intrinsic factor deficiency DOID:0050734|UMLS:C1394891|MedDRA:10070440|Orphanet:332|ICD9:281.3|OMIM:261000|ICD10:D51.0|OMIM:243320|SCTID:60504009|MESH:C563242|GARD:0003024 owl:Class MONDO:0020528 biolink:NamedThing ACTH-dependent Cushing syndrome Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH). tmpaxzxjjyw_mondo_relaxed.owl pituitary Cushing syndrome|pituitary-dependent Cushing disease|pituitary Cushing diseases|adrenocorticotropic hormone, inappropriate secretion|corticotropin-dependent Cushing syndrome|overproduction of ACTH|ACTH-dependent CS|adrenocorticotropic hormone-dependent Cushing syndrome|pituitary Cushing disease|ACTH hypersecretion, pituitary|pituitary-dependent Cushing's disease ICD10:E24.0|DOID:3946|Orphanet:99892|MedDRA:10035109|EFO:1001110|SCTID:190502001|MESH:D047748|UMLS:C0342442|SCTID:237734007 owl:Class MONDO:0018912 biolink:NamedThing Cushing syndrome Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin. tmpaxzxjjyw_mondo_relaxed.owl cortisol Excess|Cushing's syndrome|ectopic adrenocorticotropic hormone syndrome|hypercortisolism|hyperadrenocorticism|pituitary basophilism|suprarenogenic syndrome|nodular primary adrenocortical dysplasia|Cushing syndrome|adrenal hyperfunction resulting from pituitary ACTH excess OMIM:219090|MedDRA:10020610|ICD10:E24.1|ICD10:E24.2|ICD10:E24.0|ICD9:255.0|MedDRA:10020564|ICD10:E24.4|MedDRA:10011652|NCIT:C2969|ICD10:E24.3|MESH:D003480|EFO:0003099|ICD10:E24.8|ICD10:E24.9|MedDRA:10020562|GARD:0006224|UMLS:C0010481|Orphanet:553|ICD10:E24 Editor mote: DOID merged this into primary hyperaldosteronism but we believe this to be wrong. Update: fixed https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/525; consider adding subclass for inherited form owl:Class CHEBI:35475 biolink:NamedThing non-steroidal anti-inflammatory drug An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins. tmpaxzxjjyw_mondo_relaxed.owl NSAIDs|non-steroidal anti-inflammatory drugs|NSAID|non-steroidal anti-inflammatory agent owl:Class CHEBI:35842 biolink:NamedThing antirheumatic drug A drug used to treat rheumatoid arthritis. tmpaxzxjjyw_mondo_relaxed.owl antirheumatic drugs|anti-rheumatic drugs|antirheumatic agent owl:Class MONDO:0003171 biolink:NamedThing pineal gland astrocytoma A astrocytoma that involves the pineal body. tmpaxzxjjyw_mondo_relaxed.owl pineal body astrocytoma (excluding glioblastoma)|pineal astrocytic tumor|astrocytoma of the pineal gland|astrocytoma (excluding glioblastoma) of pineal body|pineal body astrocytoma|pineal astrocytoma|astrocytoma of pineal gland UMLS:C0280795|NCIT:C8274|DOID:4858 owl:Class MONDO:0003249 biolink:NamedThing pineal gland cancer Abnormal malignant growth of the cells that comprise the pineal parenchyma. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of pineal body|malignant pineal region tumor|malignant pineal area neoplasm|neoplasm of the pineal region|malignant pineal region neoplasm|pinealoma|malignant neoplasm of the pineal gland|cancer of pineal body|malignant pineal area tumor|malignant pineal gland neoplasm|tumor of the pineal region|malignant pineal gland tumor|malignant tumor of the pineal gland|pineocytic tumor|pineal body cancer|malignant neoplasm of pineal gland|malignant tumor of pineal gland|malignant pineal body neoplasm DOID:5032|SCTID:363483004|UMLS:C0031941|ICD9:194.4|ICD10:C75.3|NCIT:C6965|NCIT:C3328|NCIT:C3573 owl:Class MONDO:0005374 biolink:NamedThing bone marrow neoplasm Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow). tmpaxzxjjyw_mondo_relaxed.owl bone marrow neoplasm|bone marrow neoplasm (disease)|neoplasm of bone marrow|malignant bone marrow tumor|tumor of bone marrow|bone marrow cancer|bone marrow tumor SCTID:414824005|SCTID:425333006|ICD10:D47.1|ICD9:238.79|MESH:D019046|UMLS:C0282609|NCIT:C35370|DOID:4960 owl:Class MONDO:0002334 biolink:NamedThing hematopoietic and lymphoid system neoplasm Neoplasms of the hematopoietic system, including hematopoietic cell neoplasms (e.g. leukemias, lymphomas) and non-hematopoietic cell neoplasms that can affect the hematopoietic system (e.g. lymph node and splenic sarcomas). --2003 tmpaxzxjjyw_mondo_relaxed.owl blood neoplasm (disease)|hematopoietic system tumor|tumor of hematopoietic system|hematopoietic neoplasm (morphologic abnormality)|hematopoietic and lymphoid system neoplasm|tumor of blood|neoplasm of hematopoietic system|blood cancer|hematologic cancer|hematologic neoplasm|malignant hematopoietic neoplasm (morphologic abnormality)|neoplasm of blood|hematopoietic neoplasm|hematologic malignancy|hematopoietic tumors|hematopoietic system neoplasm|hematopoietic cancer|hematopoietic and lymphoid system tumor|blood tumor|hematological tumors NCIT:C35813|UMLS:C1512393|MESH:D019337|UMLS:C0376544|DOID:2531|UMLS:C0376545|SCTID:129154003 owl:Class GO:0043124 biolink:NamedThing negative regulation of I-kappaB kinase/NF-kappaB signaling Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of I-kappaB kinase/NF-kappaB cascade|downregulation of I-kappaB kinase/NF-kappaB cascade|down regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|inhibition of I-kappaB kinase/NF-kappaB cascade owl:Class GO:1902532 biolink:NamedThing negative regulation of intracellular signal transduction Any process that stops, prevents or reduces the frequency, rate or extent of intracellular signal transduction. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of intracellular signal transduction pathway|negative regulation of signal transduction via intracellular signaling cascade|inhibition of signal transmission via intracellular cascade|downregulation of signal transmission via intracellular cascade|downregulation of signal transduction via intracellular signaling cascade|down regulation of signal transmission via intracellular cascade|inhibition of signal transduction via intracellular signaling cascade|inhibition of intracellular signaling cascade|down-regulation of intracellular signaling cascade|down regulation of intracellular signal transduction|down regulation of intracellular signaling cascade|down-regulation of intracellular signaling pathway|negative regulation of intracellular signaling cascade|inhibition of intracellular signaling chain|down regulation of intracellular signal transduction pathway|downregulation of intracellular signaling cascade|down regulation of signal transduction via intracellular signaling cascade|down-regulation of intracellular signal transduction pathway|inhibition of intracellular signal transduction|negative regulation of intracellular protein kinase cascade|down-regulation of signal transmission via intracellular cascade|negative regulation of intracellular signaling chain|down-regulation of signal transduction via intracellular signaling cascade|down-regulation of intracellular signaling chain|inhibition of intracellular signaling pathway|negative regulation of intracellular signaling pathway|downregulation of intracellular signaling pathway|inhibition of intracellular signal transduction pathway|downregulation of intracellular signal transduction pathway|downregulation of intracellular signaling chain|downregulation of intracellular signal transduction|down regulation of intracellular signaling pathway|down regulation of intracellular signaling chain|negative regulation of signal transmission via intracellular cascade|down-regulation of intracellular signal transduction owl:Class HGNC:3666 biolink:NamedThing FGF10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016838 biolink:NamedThing 16q24.3 microdeletion syndrome 16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. tmpaxzxjjyw_mondo_relaxed.owl chromosome 16q24.3 microdeletion syndrome|Del(16)(q24.3)|monosomy 16q24.3 UMLS:CN202174|SCTID:719580004|Orphanet:261250|GARD:0010935|UMLS:C4304594|ICD10:Q93.5 https://rarediseases.info.nih.gov/diseases/10935/16q243-microdeletion-syndrome owl:Class MONDO:0016914 biolink:NamedThing partial deletion of the long arm of chromosome 16 tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome 16q|partial deletion of the long arm of chromosome type 16|partial monosomy of chromosome 16q|partial monosomy of the long arm of chromosome 16 Orphanet:262128|ICD10:Q93.5 owl:Class CHEBI:17997 biolink:NamedThing dinitrogen An elemental molecule consisting of two trivalently-bonded nitrogen atoms. tmpaxzxjjyw_mondo_relaxed.owl N2|N#N|dinitrogen|Nitrogen|molecular nitrogen owl:Class CHEBI:138675 biolink:NamedThing gas molecular entity Any main group molecular entity that is gaseous at standard temperature and pressure (STP; 0degreeC and 100 kPa). tmpaxzxjjyw_mondo_relaxed.owl gaseous molecular entity|gaseous molecular entities|gas molecular entities owl:Class HGNC:1245 biolink:NamedThing C1QC tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00002008 biolink:NamedThing dust Minute solid particles with diameters less than 500 micrometers. Occurs in and may be deposited from, the atmosphere. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000814 biolink:NamedThing solid environmental material An environmental material which is in a solid state. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004294 biolink:NamedThing gestational ovarian choriocarcinoma A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present. tmpaxzxjjyw_mondo_relaxed.owl gestational ovarian choriocarcinoma DOID:7591|NCIT:C40442|UMLS:C1517538 owl:Class MONDO:0003507 biolink:NamedThing choriocarcinoma of ovary A choriocarcinoma arising from the ovary. When it appears before puberty is of germ cell origin. In children and young adults signs and symptoms include precocious pseudopuberty and vaginal bleeding. Serum human chorionic gonadotropin is elevated. Germ cell derived ovarian choriocarcinoma should be differentiated from primary or metastatic gestational choriocarcinoma affecting the ovary. The prognosis of germ cell derived choriocarcinoma is less favorable and requires more aggressive chemotherapy treatment regimens compared to gestational choriocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl choriocarcinoma of the ovary|germ cell choriocarcinoma of ovary|germ cell choriocarcinoma of the ovary|ovary choriocarcinoma (disease)|choriocarcinoma of ovary|ovarian choriocarcinoma|ovarian germ cell choriocarcinoma EFO:1000413|UMLS:C0346181|SCTID:254870004|NCIT:C4515|DOID:5550 owl:Class GO:2000469 biolink:NamedThing negative regulation of peroxidase activity Any process that stops, prevents or reduces the frequency, rate or extent of peroxidase activity. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of donor:hydrogen-peroxide oxidoreductase activity|negative regulation of oxyperoxidase activity|negative regulation of peroxidase reaction owl:Class MONDO:0003910 biolink:NamedThing mixed cell uveal melanoma A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of a mixture of spindle A melanoma cells, spindle B melanoma cells, and epithelioid melanoma cells. tmpaxzxjjyw_mondo_relaxed.owl mixed cell uveal melanoma NCIT:C35781|DOID:6522|EFO:1000380|UMLS:C1334782 owl:Class MONDO:0005616 biolink:NamedThing pulmonary mucoepidermoid carcinoma A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells. tmpaxzxjjyw_mondo_relaxed.owl lung mucoepidermoid cancer|lung mucoepidermoid carcinoma|mucoepidermoid carcinoma of the lung ONCOTREE:LUMEC|DOID:0050932|EFO:0006740|NCIT:C45544|UMLS:C1708778 owl:Class MONDO:0027772 biolink:NamedThing lung colloid adenocarcinoma A morphologic variant of lung adenocarcinoma characterized by the presence of mucin pools containing islands of well differentiated adenocarcinoma cells. tmpaxzxjjyw_mondo_relaxed.owl mucinous lung adenocarcinoma|lung mucinous cystic tumor of borderline malignancy|lung mucinous cystadenocarcinoma|lung colloid adenocarcinoma DOID:0080304|UMLS:C1708776|NCIT:C45512|DOID:0080303 owl:Class MONDO:0004519 biolink:NamedThing synovial angioma A rare hemangioma arising from synovium lining surfaces. tmpaxzxjjyw_mondo_relaxed.owl angioma of the synovium|hemangioma of layer of synovial tissue|hemangioma of the synovium|angioma of synovium|layer of synovial tissue hemangioma|hemangioma of synovium|synovial hemangioma NCIT:C6525|UMLS:C1336546|DOID:8274 owl:Class MONDO:0024715 biolink:NamedThing benign synovial neoplasm A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath. tmpaxzxjjyw_mondo_relaxed.owl synovium neoplasm, benign|benign synovioma|benign tumor of synovium|benign neoplasm of the synovium|benign neoplasm of synovium|benign tumor of the synovium|benign synovial tumor|synovioma, benign|benign synovium neoplasm|benign synovial neoplasm NCIT:C3829|ICDO:9040/0|UMLS:C0221289 owl:Class GO:0060590 biolink:NamedThing ATPase regulator activity Binds to and modulates the activity of an ATP hydrolysis activity. tmpaxzxjjyw_mondo_relaxed.owl ATP hydrolysis regulator activity owl:Class MONDO:0002090 biolink:NamedThing eccrine sweat gland neoplasm A neoplasm involving a eccrine sweat gland. tmpaxzxjjyw_mondo_relaxed.owl eccrine sweat gland neoplasm (disease)|eccrine tumor of the skin|eccrine neoplasm of skin|eccrine skin tumor|eccrine neoplasm of the skin|eccrine neoplasm|eccrine sweat gland tumor|eccrine tumor of skin|eccrine skin neoplasm|neoplasm of eccrine sweat gland|eccrine tumor|tumor of eccrine sweat gland DOID:173|NCIT:C6796|UMLS:C1333371 owl:Class MONDO:0002381 biolink:NamedThing sweat gland neoplasm A benign or malignant neoplasm arising from the sweat glands. tmpaxzxjjyw_mondo_relaxed.owl sweat gland neoplasms|sweat gland tumor NOS (morphologic abnormality)|sweat gland tumor|neoplasm of the sweat gland|sweat gland neoplasm|sweat gland neoplasm (disease)|sweat gland tumor (morphologic abnormality)|neoplasm of sweat gland|tumor of the sweat gland|tumor of sweat gland ICD9:239.2|DOID:2664|ICDO:8400/1|MESH:D013544|SCTID:126490003|UMLS:C0038987|NCIT:C3398|EFO:1001204 MONDO:0021219 owl:Class MONDO:0016456 biolink:NamedThing 5q14.3 microdeletion syndrome The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. tmpaxzxjjyw_mondo_relaxed.owl monosomy 5q14.3|5q14.3 deletion syndrome|chromosome 5q14.3 deletion syndrome|Del(5)(q14.3)|autosomal dominant intellectual disability 20 SCTID:719661007|OMIM:613443|Orphanet:228384|ICD10:Q93.5|GARD:0012166 Editor note: ORDO xrefs mental retardation, autosomal dominant 20, check this owl:Class CL:0000625 biolink:NamedThing CD8-positive, alpha-beta T cell A T cell expressing an alpha-beta T cell receptor and the CD8 coreceptor. tmpaxzxjjyw_mondo_relaxed.owl CD8-positive, alpha-beta T-lymphocyte|CD8-positive, alpha-beta T-cell|CD8-positive, alpha-beta T lymphocyte cell owl:Class CL:0000791 biolink:NamedThing mature alpha-beta T cell A alpha-beta T cell that has a mature phenotype. tmpaxzxjjyw_mondo_relaxed.owl mature alpha-beta T-cell|mature alpha-beta T-lymphocyte|mature alpha-beta T lymphocyte cell owl:Class NCBITaxon:6267 biolink:NamedThing Anisakidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:33257 ncbi_taxonomy owl:Class NCBITaxon:33256 biolink:NamedThing Ascaridoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005776 biolink:NamedThing gnathomiasis An infection that is caused by nematodes of the genus Gnathostoma, which is commonly found in Southeast Asia, and which is transmitted via the consumption of contaminated raw/undercooked birds, eels, fish, frogs, or reptiles. The pattern of symptoms is species-dependent, and extraintestinal manifestations are due to larval migration (e.g., pulmonary infiltrates, eosinophilic meningitis, or painful, pruritic subcutaneous swellings, and peripheral blood eosinophilia). tmpaxzxjjyw_mondo_relaxed.owl Gnathostomiasis|Gnathostoma infection|infectious disease by Gnathostoma GARD:0009286|ICD9:128.1|NCIT:C128395|UMLS:C0018013|ICD10:B83.1|DOID:11379|EFO:0007289|SCTID:44086001|MESH:D058429 owl:Class MONDO:0004664 biolink:NamedThing helminthiasis A parasitic infection characterized by the infestation with worms, mainly in the intestine. tmpaxzxjjyw_mondo_relaxed.owl parasitic helminthiasis infectious disease|worm infection|helminthosis|helminth infection|helminthiasis ICD10:B65.B83|UMLS:C0018889|NCIT:C84751|ICD10:B83.9|ICD9:128.9|ICD9:120-129.99|SCTID:27601005|ICD10:B65-B83|GARD:0006578|ICD9:128.8|EFO:1001342|DOID:883|MESH:D006373 Editor note: this is a vague grouping and does not correspond to any one taxon owl:Class HGNC:11354 biolink:NamedThing STAG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002418 biolink:NamedThing ethmoid sinus adenocarcinoma A carcinoma that arises from glandular epithelial cells of the epithelial cell tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of the ethmoid sinus|adenocarcinoma of ethmoid sinus NCIT:C6237|UMLS:C1333472|DOID:2766 owl:Class MONDO:0001763 biolink:NamedThing ethmoid sinus cancer A malignant neoplasm involving the ethmoid sinus. tmpaxzxjjyw_mondo_relaxed.owl cancer of ethmoid sinus|malignant neoplasm of the ethmoidal sinus|malignant tumor of ethmoidal sinus|malignant ethmoid sinus tumor|ethmoid sinus cancer|malignant neoplasm of ethmoidal sinus|malignant ethmoidal sinus tumor|malignant ethmoidal sinus neoplasm|malignant tumor of the ethmoidal sinus|malignant neoplasm of ethmoid sinus|malignant ethmoid sinus neoplasm|malignant tumor of ethmoid sinus|malignant neoplasm of the ethmoid sinus|malignant tumor of the ethmoid sinus SCTID:363426009|DOID:1363|UMLS:C0153477|ICD9:160.3|ICD10:C31.1|NCIT:C3541 owl:Class NCBITaxon:147545 biolink:NamedThing Eurotiomycetes tmpaxzxjjyw_mondo_relaxed.owl Plectomycetes|bitunicate ascomycetes|Loculoascomycetes GC_ID:1 NCBITaxon:147540 ncbi_taxonomy owl:Class NCBITaxon:716546 biolink:NamedThing leotiomyceta tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0041903 biolink:NamedThing gonococcal infection of joint tmpaxzxjjyw_mondo_relaxed.owl gonococcal joint infection|gonococcal infection of joint|gonococcal arthritis|gonococcal rheumatism SCTID:44743006|UMLS:C0153216 owl:Class MONDO:0017017 biolink:NamedThing primary interstitial lung disease specific to childhood due to alveolar vascular disorder tmpaxzxjjyw_mondo_relaxed.owl primary ILD specific to childhood due to alveolar vascular disorder 2022-03-01 Orphanet:264683|UMLS:CN202329 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0017015 biolink:NamedThing primary interstitial lung disease specific to childhood tmpaxzxjjyw_mondo_relaxed.owl primary ILD specific to childhood|children's interstitial lung disease|primary interstitial lung disease specific to childhood|child UMLS:CN202326|GARD:0010559|Orphanet:264665 https://rarediseases.info.nih.gov/diseases/10559/childrens-interstitial-lung-disease owl:Class MONDO:0014352 biolink:NamedThing abdominal obesity-metabolic syndrome 3 Any metabolic syndrome in which the cause of the disease is a mutation in the DYRK1B gene. tmpaxzxjjyw_mondo_relaxed.owl abdominal obesity-metabolic syndrome type 3|DYRK1B metabolic syndrome|abdominal obesity-metabolic syndrome 3|AOMS3|metabolic syndrome caused by mutation in DYRK1B|central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease UMLS:C4014361|OMIM:615812|DOID:0060612 owl:Class MONDO:0004955 biolink:NamedThing metabolic syndrome A combination of medical conditions that, when present, increase the risk of heart attack, stroke, and diabetes mellitus. It includes the following medical conditions: increased blood pressure, central obesity, abnormal cholesterol levels, and elevated fasting glucose. tmpaxzxjjyw_mondo_relaxed.owl metabolic syndrome X|metabolic syndrome DOID:14221|ICD9:277.7|OMIM:615812|UMLS:C0524620|Orphanet:411969|MESH:D024821|ICD10:E88.81|EFO:0000195|SCTID:237602007|OMIM:605552|NCIT:C84442 owl:Class CHEBI:46195 biolink:NamedThing paracetamol A member of the class of phenols that is 4-aminophenol in which one of the hydrogens attached to the amino group has been replaced by an acetyl group. tmpaxzxjjyw_mondo_relaxed.owl p-hydroxyacetanilide|N-acetyl-p-aminophenol|4'-hydroxyacetanilide|p-Acetylaminophenol|4-(Acetylamino)phenol|p-acetaminophenol|p-acetamidophenol|4-acetamidophenol|Acetaminofen|Acetaminophen|acetaminofen|Acenol|N-(4-hydroxyphenyl)acetamide|Panadol|p-hydroxyphenolacetamide|paracetamol|APAP|paracetamolum|Tylenol|Paracetamol|acetaminophene owl:Class CL:0000242 biolink:NamedThing Merkel cell A modified epidermal cell located in the stratum basale. They are found mostly in areas where sensory perception is acute. Merkel cells are closely associated with an expanded terminal bulb of an afferent myelinated nerve fiber. tmpaxzxjjyw_mondo_relaxed.owl Merkel's cell FMA:70548 cell owl:Class CL:0000123 biolink:NamedThing neuron associated cell (sensu Vertebrata) tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0018210 biolink:NamedThing Alexander disease type II Alexander disease type II (AxD type II) is an astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. tmpaxzxjjyw_mondo_relaxed.owl AxD type II Orphanet:363722|OMIM:203450|ICD10:E75.2|UMLS:CN204730 owl:Class MONDO:0008752 biolink:NamedThing Alexander disease Alexander disease (AxD) is a rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: AxD Type I and Type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. tmpaxzxjjyw_mondo_relaxed.owl megalencephaly in infancy accompanied by progressive spasticity and dementia|ALXDRD|Alexander's disease|AxD|Alexander disease|alexanders leukodystrophy ICD10:E75.2|NCIT:C84545|Orphanet:58|MESH:D038261|DOID:4252|GARD:0005774|UMLS:C0270726|OMIM:203450|SCTID:81854007 https://rarediseases.info.nih.gov/diseases/5774/alexander-disease owl:Class GO:0090277 biolink:NamedThing positive regulation of peptide hormone secretion Any process that increases the rate, frequency, or extent of the regulated release of a peptide hormone from secretory granules. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006876 biolink:NamedThing ocular tuberculosis Tuberculous infection of the eye, primarily the iris, ciliary body, and choroid. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041322|DOID:0070344|EFO:1001070|ICD9:017.30|ICD9:017.32|MESH:D014392|SCTID:49107007 owl:Class MONDO:0043885 biolink:NamedThing eye infectious disorder An infectious process affecting any part of the eye. Causes include viruses and bacteria. Symptoms include itching and discomfort in the eye, watery eyes, eye pain and discharge, and blurring vision. Representative examples include pink eye, blepharitis, and trachoma. tmpaxzxjjyw_mondo_relaxed.owl ocular infection|ocular infections|infection, eye|infections, eye|eye infection|infection, ocular|infections, ocular UMLS:C0015403|SCTID:128351009|MESH:D015817|NCIT:C45372 owl:Class PATO:0002006 biolink:NamedThing 2-D shape A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity. tmpaxzxjjyw_mondo_relaxed.owl 2-D projection|cross-sectional owl:Class PATO:0000052 biolink:NamedThing shape A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc). tmpaxzxjjyw_mondo_relaxed.owl relational shape quality owl:Class GO:0045934 biolink:NamedThing negative regulation of nucleobase-containing compound metabolic process Any cellular process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|inhibition of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|down-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|downregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|negative regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism|down regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process owl:Class UBERON:0006256 biolink:NamedThing knee joint primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014972 biolink:NamedThing chromosome 19q13.11 deletion syndrome, proximal Chromosome 19q13.11 deletion syndrome in which the proximal region was deleted. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4311046|OMIM:617219 owl:Class MONDO:0013090 biolink:NamedThing chromosome 19q13.11 deletion syndrome The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. tmpaxzxjjyw_mondo_relaxed.owl chromosome 19Q13.11 deletion syndrome, distal|Del(19)(q13.11)|19q13.11 microdeletion syndrome|chromosome 19q13.11 deletion syndrome, distal|monosomy 19q13.11 GARD:0010592|UMLS:C4304577|OMIM:613026|SCTID:719599008|ICD10:Q93.5|Orphanet:217346|DOID:0060408|MESH:C567810|UMLS:C2751651 https://rarediseases.info.nih.gov/diseases/10592/chromosome-19q1311-deletion-syndrome owl:Class UBERON:0003277 biolink:NamedThing skeleton of upper jaw tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006226 biolink:NamedThing gastric mucosa-associated lymphoid tissue lymphoma A low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy. tmpaxzxjjyw_mondo_relaxed.owl gastric MALToma|primary gastric MALT lymphoma|primary gastric B-cell MALT lymphoma|stomach MALT lymphoma|MALT lymphoma of stomach|MALToma of the stomach|primary MALT lymphoma of stomach|gastric MALT lymphoma|MALToma of stomach|gastric mucosa-associated lymphoid tissue lymphoma|primary MALT lymphoma of the stomach|MALT lymphoma of the stomach UMLS:C1333782|NCIT:C5266|EFO:1000274 owl:Class MONDO:0018502 biolink:NamedThing hereditary gastric cancer Hereditary gastric cancer refers to the occurrence of gastric cancer in a familial context and is described as two or more cases of gastric cancer in first or second degree relatives with at least one case diagnosed before the age of 50. Familial clustering is observed in 10% of all cases of gastric cancer, and includes hereditary diffuse gastric cancer (early onset diffuse-type gastric cancer), gastric adenocarcinoma and proximal polyposis of the stomach and familial intestinal gastric cancer (familial clustering of intestinal type gastric adenocarcinoma). Hereditary gastric cancer can also occur in other hereditary cancer syndromes such as Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis and juvenile polyposis syndrome. tmpaxzxjjyw_mondo_relaxed.owl hereditary gastric cancer|hereditary cancer of stomach Orphanet:423776 owl:Class UBERON:0011960 biolink:NamedThing articular capsule of glenohumeral joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001484 biolink:NamedThing articular capsule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007272 biolink:NamedThing hereditary hypercarotenemia and vitamin A deficiency Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. tmpaxzxjjyw_mondo_relaxed.owl HCVAD|hypercarotenemia and vitamin A deficiency, autosomal dominant|Carotenoids, plasma level of, quantitative trait locus 1 OMIM:115300|OMIM:277350|ICD10:E50.8|Orphanet:199285|MESH:C567296|SCTID:726079008 owl:Class MONDO:0020636 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to a complete deficiency tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019146 biolink:NamedThing inherited susceptibility to mycobacterial diseases Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare immunodeficiency syndrome, characterized by a narrow vulnerability to poorly virulent mycobacteria, such as bacillus Calmette-Guerin (BCG) vaccines and environmental mycobacteria (EM), and defined by severe, recurrent infections, either disseminated or localized. tmpaxzxjjyw_mondo_relaxed.owl idiopathic infection caused by BCG or atypical mycobacteria|Mycobacterium caused genetic susceptibility to infections due to particular pathogens|Mendelian susceptibility to mycobacterial infections|Mendelian susceptibility to atypical mycobacteria|MSMD|Mycobacterium genetic susceptibility to infections due to particular pathogens UMLS:CN181681|GARD:0012977|UMLS:C3266863|Orphanet:748|ICD10:D84.8 owl:Class UBERON:0004253 biolink:NamedThing skin muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0056817 biolink:NamedThing rectal adenosquamous carcinoma An unusual rectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. tmpaxzxjjyw_mondo_relaxed.owl rectal adenosquamous carcinoma|rectal adenosquamous cancer UMLS:C1709865|NCIT:C43594 owl:Class MONDO:0006157 biolink:NamedThing colorectal adenosquamous carcinoma An unusual colorectal carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. tmpaxzxjjyw_mondo_relaxed.owl colorectal adenosquamous cancer|colorectal (colon or rectal) adenosquamous cancer|colorectal adenosquamous carcinoma|colorectum adenosquamous carcinoma UMLS:C1707437|EFO:1000190|NCIT:C43589 owl:Class MONDO:0002286 biolink:NamedThing renal artery disease A disease involving the renal artery. tmpaxzxjjyw_mondo_relaxed.owl renal vascular disease|vascular disorder of kidney UMLS:C0268790|UMLS:C3640053|DOID:2388|SCTID:16934004|NCIT:C101254|ICD9:593.81 owl:Class MONDO:0010795 biolink:NamedThing oncocytic neoplasm A usually benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic neoplasms of the thyroid gland, and kidney. (NCI05) tmpaxzxjjyw_mondo_relaxed.owl oncocytic neoplasm|oncocytic tumor|oncocytoma, benign|oncocytoma NCIT:C7072|UMLS:C1510502|OMIM:553000|UMLS:C1378050 owl:Class MONDO:0009524 biolink:NamedThing intellectual disability-spasticity-ectrodactyly syndrome Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, spasticity and transverse limb defects|mental retardation spasticity ectrodactyly|mental retardation, spasticity and transverse limb defects|ectrodactyly, spastic paraplegia and mental retardation|ectrodactyly, spastic paraplegia and intellectual disability|intellectual disability spasticity ectrodactyly|limb defects, distal transverse, with intellectual disability and spasticity|Jancar syndrome|limb defects, distal transverse, with mental retardation and spasticity GARD:0003523|Orphanet:1891|OMIM:246555|MESH:C537446|SCTID:763743003|UMLS:C0796001 https://rarediseases.info.nih.gov/diseases/3523/mental-retardation-spasticity-ectrodactyly owl:Class MONDO:0012176 biolink:NamedThing Emanuel syndrome Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities. tmpaxzxjjyw_mondo_relaxed.owl supernumerary Der(22)T(11|Der(22)t(11;22) syndrome|supernumerary der(22),t(11;22) syndrome|supernumerary der(22) syndrome|Emanuel syndrome MESH:C535733|SCTID:702417004|Orphanet:96170|OMIM:609029|UMLS:C1836929|ICD9:758.5|GARD:0009835|ICD10:Q92.6 https://rarediseases.info.nih.gov/diseases/9835/emanuel-syndrome owl:Class MONDO:0016998 biolink:NamedThing complex chromosomal rearrangement tmpaxzxjjyw_mondo_relaxed.owl 2022-04-01 Orphanet:263708 Reason: grouping class. Term to consider: none owl:Class GO:0000959 biolink:NamedThing mitochondrial RNA metabolic process The chemical reactions and pathways involving RNA transcribed from the mitochondrial genome and occurring in the mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016070 biolink:NamedThing RNA metabolic process The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. tmpaxzxjjyw_mondo_relaxed.owl RNA metabolism owl:Class MONDO:0009665 biolink:NamedThing biotinidase deficiency Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. tmpaxzxjjyw_mondo_relaxed.owl biotin deficiency|multiple carboxylase deficiency, juvenile-onset|late-onset multiple carboxylase deficiency|deficiency of biotinidase|late-onset biotin-responsive multiple carboxylase deficiency|juvenile-onset multiple carboxylase deficiency|BTD deficiency|multiple carboxylase deficiency, late-onset|biotinidase deficiency UMLS:CN043572|MESH:D028921|NCIT:C84598|OMIM:253260|GARD:0000894|SCTID:8808004|ICD9:277.6|UMLS:C0220754|ICD10:E53.8|DOID:856|ICD10:D81.810|Orphanet:79241|MedDRA:10071434 owl:Class MONDO:0021783 biolink:NamedThing streptococcal sore throat Inflammation of the throat due to Streptococcus pyogenes. tmpaxzxjjyw_mondo_relaxed.owl Streptococcal Pharyngitis|streptococcal pharyngitis|strep throat|Streptococcal sore throat|Septic sore throat|Strept throat|Streptococcal pharyngitis|Strep throat|Streptococcal angina NCIT:C116003|SCTID:43878008|EFO:1002024|ICD9:034.0|UMLS:C0036689 owl:Class MONDO:0021680 biolink:NamedThing streptococcal infection Any of the several infectious disorders caused by members of streptococcus, a genus of gram positive bacteria belonging to the family Streptococcaceae. Streptococcal infections are classified into Groups A, B, C, D and G. tmpaxzxjjyw_mondo_relaxed.owl Streptococcus caused disease or disorder|infection, streptococcal|infections, streptococcal|streptococcal infection|Streptococcus disease or disorder|Streptococcus infectious disease SCTID:85769006|NCIT:C87062|ICD9:041.00|ICD9:041.09|EFO:1001476|UMLS:C0038395|MESH:D013290 owl:Class MONDO:0020603 biolink:NamedThing X-linked chondrodysplasia punctata 2 A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. tmpaxzxjjyw_mondo_relaxed.owl chondrodysplasia punctata 2, X-linked dominant|CDPX2|EBP chondrodysplasia punctata|Happle syndrome|chondrodysplasia punctata caused by mutation in EBP|Conradi Hunermann syndrome|Conradi-Hunermann-Happle syndrome|Conradi-Hünermann-Happle syndrome|chondrodysplasia punctata 2 X-linked dominant|Conradi-Hunermann syndrome|CDPXD|X-linked chondrodysplasia punctata type 2|Conrad Hunermann Happle syndrome GARD:0006189|OMIM:302960|Orphanet:35173|DOID:0080352 https://rarediseases.info.nih.gov/diseases/6189/chondrodysplasia-punctata-2-x-linked-dominant|https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0019701 biolink:NamedThing chondrodysplasia punctata A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. tmpaxzxjjyw_mondo_relaxed.owl chondrodysplasia punctata (stippled epiphyses) Group|chondrodysplasia calcificans congenita|chondrodysplasia punctata congenita|CDP ICD9:756.59|DOID:2581|GARD:0008542|OMIM:215105|Orphanet:93442|NCIT:C84632|SCTID:360507004|UMLS:C0008445|MESH:D002806|ICD10:Q77.3 owl:Class MONDO:0024661 biolink:NamedThing tubulovillous adenoma An epithelial neoplasm morphologically characterized by the presence of a villous and a tubular architectural pattern. Most often it occurs in the large intestine, small intestine, and the stomach in which the neoplastic epithelial cells show dysplastic features. tmpaxzxjjyw_mondo_relaxed.owl tubulovillous adenoma NCIT:C4143|ICDO:8263/0|UMLS:C0334307 owl:Class HGNC:19286 biolink:NamedThing SCYL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010144 biolink:NamedThing tibial hemimelia Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula. tmpaxzxjjyw_mondo_relaxed.owl congenital aplasia and dysplasia of the tibia with intact fibula|tibial hemimelia|Thm|tibia, absence of|absence of tibia|congenital longitudinal deficiency of the tibia|tibial longitudinal meromelia|congenital absence of tibia|bilateral absence of the tibia Orphanet:93322|OMIM:275220|GARD:0008707|SCTID:79177001|ICD10:Q72.5|MESH:C535563 owl:Class MONDO:0014601 biolink:NamedThing autosomal recessive spinocerebellar ataxia 20 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene. tmpaxzxjjyw_mondo_relaxed.owl SNX14 autosomal recessive cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 20|intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome|autosomal recessive spinocerebellar ataxia type 20|autosomal recessive cerebellar ataxia caused by mutation in SNX14|SCAR20|intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|spinocerebellar ataxia, autosomal recessive type 20 UMLS:C4225355|DOID:0080066|OMIM:616354|ICD10:Q87.8|Orphanet:397709 owl:Class MONDO:0001563 biolink:NamedThing vestibulocochlear nerve disorder A disease involving the vestibulocochlear nerve. tmpaxzxjjyw_mondo_relaxed.owl vestibulocochlear nerve disease|disorder of vestibulocochlear nerve|disease or disorder of vestibulocochlear nerve|disorder of acoustic nerve|disease of vestibulocochlear nerve|disorder of acoustovestibular nerve|disorder of eighth nerve|vestibulocochlear nerve disorder|vestibulocochlear nerve disease or disorder|acoustic nerve disorder|acoustic nerve disorder NOS|acoustic nerve disease|disorder of the vestibulocochlear nerve ICD10:H93.3|SCTID:77949003|DOID:12657|UMLS:C0001163|MESH:D000160|ICD10:H93.3X|NCIT:C27207|ICD9:388.5 owl:Class MONDO:0021918 biolink:NamedThing arena syndrome tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia with iron deposits in basal ganglia GARD:0009223|MESH:C537428|UMLS:C2931491 https://rarediseases.info.nih.gov/diseases/9223/arena-syndrome owl:Class MONDO:0017209 biolink:NamedThing infectious posterior uveitis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:279919|ICD10:H20.0 owl:Class MONDO:0016047 biolink:NamedThing endophthalmitis An infectious process affecting the internal structures of the eye. tmpaxzxjjyw_mondo_relaxed.owl MESH:D009877|MedDRA:10014801|UMLS:C0014236|ICD9:360.19|ICD10:H44.1|ICD10:H44.0|NCIT:C34586|DOID:4692|SCTID:1847009|Orphanet:199323 owl:Class UBERON:0003591 biolink:NamedThing lobar bronchus connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003592 biolink:NamedThing bronchus connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006162 biolink:NamedThing colorectal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpaxzxjjyw_mondo_relaxed.owl grade 1 neuroendocrine neoplasm of colorectum|colorectal neuroendocrine tumor G1|colorectal NET G1|colorectum carcinoid tumor|colorectum neuroendocrine tumor, well differentiated, low grade|colorectal carcinoid tumor|large intestinal neuroendocrine tumor G1|colorectum neuroendocrine neoplasm G1|colorectum NET G1 NCIT:C96160|UMLS:C3272611|EFO:1000195 owl:Class CHEBI:36685 biolink:NamedThing chlorocarboxylic acid A carboxylic acid containing at least one chloro group. tmpaxzxjjyw_mondo_relaxed.owl chlorocarboxylic acids owl:Class CHEBI:33575 biolink:NamedThing carboxylic acid A carbon oxoacid acid carrying at least one -C(=O)OH group and having the structure RC(=O)OH, where R is any any monovalent functional group. Carboxylic acids are the most common type of organic acid. tmpaxzxjjyw_mondo_relaxed.owl Karbonsaeure|acido carboxilico|Carbonsaeuren|acidos carboxilicos|RC(=O)OH|carboxylic acid|Carbonsaeure|acide carboxylique|carboxylic acids|acides carboxyliques owl:Class HP:0000202 biolink:NamedThing Oral cleft The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. tmpaxzxjjyw_mondo_relaxed.owl Cleft of the mouth|Cleft lip, cleft palate|Cleft lip/palate|Oral clefting SNOMEDCT_US:66948001|SNOMEDCT_US:253983005|UMLS:C0158646|UMLS:C4021813 human_phenotype owl:Class HP:0000163 biolink:NamedThing Abnormal oral cavity morphology Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the oral cavity UMLS:C4025887 human_phenotype owl:Class GO:0033043 biolink:NamedThing regulation of organelle organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. tmpaxzxjjyw_mondo_relaxed.owl regulation of organelle organisation|regulation of organelle organization and biogenesis owl:Class MONDO:0002747 biolink:NamedThing endometrial mucinous adenocarcinoma A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin. tmpaxzxjjyw_mondo_relaxed.owl endometrium mucinous adenocarcinoma|uterine corpus mucinous adenocarcinoma|uterine mucinous carcinoma|endometrial mucinous adenocarcinoma EFO:1000236|UMLS:C1519859|DOID:3707|ONCOTREE:UMC|NCIT:C40144 owl:Class MONDO:0008281 biolink:NamedThing polyposis, intestinal, scattered and discrete tmpaxzxjjyw_mondo_relaxed.owl polyps, scattered, discrete intestinal|polyposis, intestinal, scattered and discrete UMLS:C1868006|OMIM:175400 owl:Class MONDO:0000147 biolink:NamedThing polyposis tmpaxzxjjyw_mondo_relaxed.owl multiple polyps|polyposis NCIT:C4089|UMLS:C0334108 owl:Class MONDO:0021144 biolink:NamedThing ovarian clear cell tumor A benign, borderline, or malignant epithelial tumor of the ovary that is characterized by a predominance of clear and hobnail cells. tmpaxzxjjyw_mondo_relaxed.owl ovarian clear cell neoplasm|ovarian clear cell tumor|clear cell ovarian cancer UMLS:C0346164|ONCOTREE:CCOV|NCIT:C40076 owl:Class GO:2000845 biolink:NamedThing positive regulation of testosterone secretion Any process that activates or increases the frequency, rate or extent of testosterone secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000843 biolink:NamedThing regulation of testosterone secretion Any process that modulates the frequency, rate or extent of testosterone secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002944 biolink:NamedThing external ear carcinoma A carcinoma that arises from epithelial cells of the external ear tmpaxzxjjyw_mondo_relaxed.owl carcinoma of external ear|external Ear carcinoma|carcinoma of the external Ear|carcinoma of the external ear|carcinoma of external Ear|external ear carcinoma NCIT:C6081|DOID:4288|UMLS:C1333492 owl:Class MONDO:0012198 biolink:NamedThing PCWH syndrome Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is characterized by the association of the features of WSS (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease) with neurological features, namely, neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy. tmpaxzxjjyw_mondo_relaxed.owl PCWH|Waardenburg-Shah syndrome, neurologic variant|neurologic Waardenburg-Shah syndrome|peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome|WS4 plus|peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease|peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease OMIM:609136|ICD10:E75.2|UMLS:C1836727|DOID:0090111|UMLS:CN239463|Orphanet:163746|MESH:C563789 owl:Class MONDO:0020276 biolink:NamedThing pigmentation disorder with eye involvement, excluding albinism tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN227845|Orphanet:98708 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pigmentation disease' MONDO_0006600 owl:Class PATO:0001910 biolink:NamedThing folded A surface feature shape quality inhering in a bearer by virtue of the bearer's one part being layered over another connected part. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001925 biolink:NamedThing surface feature shape A surface shape quality inhering in a bearer by virtue of the bearer's shape of features present on its surface or outer shell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:57718 biolink:NamedThing barbiturate(2-) Dianion of barbituric acid arising from deprotonation at the N-1 and C-5 positions. tmpaxzxjjyw_mondo_relaxed.owl barbiturate dianion|2,4,6-trioxotetrahydro-2H-pyrimidine-1,5-diide|2,4,6-trioxo-1,3-diazinane-1,5-diide owl:Class CHEBI:25696 biolink:NamedThing organic anion Any organic ion with a net negative charge. tmpaxzxjjyw_mondo_relaxed.owl organic anions owl:Class NCBITaxon:942 biolink:NamedThing Anaplasmataceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:11760958 ncbi_taxonomy owl:Class MONDO:0006686 biolink:NamedThing brain stem infarction Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury. tmpaxzxjjyw_mondo_relaxed.owl brainstem brain infarction|brain infarction of brainstem|brainstem infarction ICD9:434.91|DOID:3523|SCTID:95457000|UMLS:C0521542|MESH:D020526|EFO:1000847 owl:Class MONDO:0005394 biolink:NamedThing brain infarction Tissue necrosis in any area of the brain, including the cerebral hemispheres, the cerebellum, and the brain stem. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by hypoxia and hypoglycemia in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis. tmpaxzxjjyw_mondo_relaxed.owl DOID:3454|EFO:0004277|SCTID:230693009|SCTID:230698000|MESH:D020520|UMLS:C0751955 owl:Class GO:0006694 biolink:NamedThing steroid biosynthetic process The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. tmpaxzxjjyw_mondo_relaxed.owl steroid anabolism|steroidogenesis|steroid biosynthesis|steroid formation|steroid synthesis owl:Class GO:0008610 biolink:NamedThing lipid biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. tmpaxzxjjyw_mondo_relaxed.owl lipid formation|lipid biosynthesis|lipid synthesis|lipogenesis|lipid anabolism owl:Class MONDO:0015816 biolink:NamedThing indolent primary cutaneous T-cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:178548 owl:Class UBERON:0004121 biolink:NamedThing ectoderm-derived structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005463 biolink:NamedThing aortic valve calcification Calcification of the aortic valve tmpaxzxjjyw_mondo_relaxed.owl aortic valve calcification|aortic valve calcification (disease) aortic valve calcification (disease) SCTID:250978003|HP:0004380|EFO:0005239|UMLS:C0428791 owl:Class MONDO:0003803 biolink:NamedThing aortic valve disorder A disease involving the aortic valve. tmpaxzxjjyw_mondo_relaxed.owl aortic valve disease or disorder|disease or disorder of aortic valve|disease of aortic valve|aortic valve disorder|disorder of aortic valve|aortic valve disease NCIT:C78650|ICD9:395|UMLS:C1260873|ICD9:424.1|DOID:62 owl:Class HGNC:17989 biolink:NamedThing SLC22A12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000421 biolink:NamedThing inborn serine deficiency An acquired metabolic disease that is has its basis in the disruption of L-serine biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl inborn error of L-serine biosynthetic process|rare inborn error of L-serine biosynthetic process|inborn L-serine biosynthetic process disorder DOID:0050721 owl:Class CHEBI:27933 biolink:NamedThing beta-lactam antibiotic An organonitrogen heterocyclic antibiotic that contains a beta-lactam ring. tmpaxzxjjyw_mondo_relaxed.owl beta-lactam antibiotics|beta-Lactam antibiotics owl:Class CHEBI:35627 biolink:NamedThing beta-lactam A lactam in which the amide bond is contained within a four-membered ring, which includes the amide nitrogen and the carbonyl carbon. tmpaxzxjjyw_mondo_relaxed.owl beta-Lactam|beta-lactams|a beta-lactam owl:Class MONDO:0001879 biolink:NamedThing anus cancer A malignant neoplasm involving the anus tmpaxzxjjyw_mondo_relaxed.owl malignant anal neoplasm|malignant tumor of the anus|malignant anus neoplasm|malignant neoplasm of the anus|malignant neoplasm of anus|malignant tumor of anus|malignant anal tumor|anus cancer|cancer of anus GARD:0009300|ICD9:154.2|NCIT:C7379|ICD9:154.3|ICD10:C21.0|ICD10:C21.1|DOID:14110 owl:Class HGNC:28287 biolink:NamedThing ALG14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001343 biolink:NamedThing impaired renal function disease Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction. tmpaxzxjjyw_mondo_relaxed.owl kidney disease|disease of kidney ICD9:588.9|DOID:11705|ICD9:588.8|ICD10:N25|ICD9:588.89|SCTID:197663003 owl:Class GO:0055103 biolink:NamedThing ligase regulator activity Binds to and modulates the activity of a ligase. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003970 biolink:NamedThing gastric fundus carcinoma A carcinoma that arises from epithelial cells of the fundus of stomach. tmpaxzxjjyw_mondo_relaxed.owl Gastric fundus cancer|cancer of the gastric fundus|cancer of the fundus of the stomach|carcinoma of gastric fundus|cancer of gastric fundus|cancer of fundus of stomach|fundus of stomach carcinoma|carcinoma of the fundus of the stomach|carcinoma of the gastric fundus|gastric fundus (stomach) cancer|carcinoma of fundus of stomach DOID:6700|UMLS:C0345799|SCTID:254555008|NCIT:C8398 Editor note: consider merge with gastric fundus cancer owl:Class MONDO:0700128 biolink:NamedThing translocation Down syndrome Down syndrome in which the extra (partial or total) copy of chromosome 21 is attached to another chromosome. tmpaxzxjjyw_mondo_relaxed.owl Robertsonian Translocation Trisomy 21 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0020947 biolink:NamedThing parasitic eye infection Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites. tmpaxzxjjyw_mondo_relaxed.owl Eye Infection, Parasitic|Infections, Parasitic Eye|Ocular Infection, Parasitic|Infection, Parasitic Eye|Ocular Infections, Parasitic|PARASITIC EYE INFECT|EYE INFECT PARASITIC|Parasitic eye infection|Parasitic Ocular Infections|Infections, Parasitic Ocular|parasitic eye infection|Parasitic Eye Infections|OCULAR INFECT PARASITIC|Parasitic Eye Infection|Parasitic Ocular Infection|Infection, Parasitic Ocular|Eye Infections, Parasitic MESH:D015822|ICD9:136.9|UMLS:C0015406|SCTID:312418006 owl:Class MONDO:0003466 biolink:NamedThing spindle cell synovial sarcoma A synovial sarcoma characterized by the presence of a spindle cell component only. tmpaxzxjjyw_mondo_relaxed.owl synovial sarcoma, monophasic fibrous|synovial sarcoma with spindle cell components ICDO:9041/3|UMLS:C0334505|DOID:5487|NCIT:C4277 owl:Class GO:0044260 biolink:NamedThing cellular macromolecule metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl cellular macromolecule metabolism|cellular biopolymer metabolic process owl:Class UBERON:0015329 biolink:NamedThing respiratory system basement membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005769 biolink:NamedThing basement membrane of epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001743 biolink:NamedThing paranasal sinus lymphoma A lymphoma that arises from the paranasal sinus. Representative examples include diffuse large B-cell lymphoma and extranodal NK/T-cell lymphoma, nasal type. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of the paranasal sinus|accessory sinus lymphoma|lymphoma of accessory sinus|primary paranasal sinus lymphoma|lymphoma of paranasal sinus|lymphoma of the accessory sinus|paranasal sinus lymphoma NCIT:C6068|UMLS:C1335339|DOID:1355 owl:Class MONDO:0007547 biolink:NamedThing epidermoid cysts The most common type of cutaneous cyst. It results from the proliferation of epidermal cells in a circumscribed space within the dermis. It is usually asymptomatic and presents as a firm, round nodule. tmpaxzxjjyw_mondo_relaxed.owl keratinizing cyst|epidermal inclusion cyst|Follicular infundibular cyst|epithelial cyst|Epidermal cyst|inclusion cyst|horn cyst|keratinous cyst|epidermoid cyst|keratin cyst|epidermoid cysts|infundibular cyst|squamous cyst OMIM:131600|SCTID:419893006|EFO:1000243|NCIT:C3134 owl:Class UBERON:0013165 biolink:NamedThing epiglottic vallecula tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045321 biolink:NamedThing leukocyte activation A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. tmpaxzxjjyw_mondo_relaxed.owl immune cell activation|leucocyte activation owl:Class GO:0002376 biolink:NamedThing immune system process Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007487 biolink:NamedThing dyslexia, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl Word-blindness, congenital|dyslexia, susceptibility to, 4|dyslexia, susceptibility to, 1|reading disability, specific, 1|dyslexia, susceptibility to, 7|susceptibility to dyslexia 1|DYX1|dyslexia, susceptibility to, type 1 OMIM:127700 owl:Class CL:1001593 biolink:NamedThing parathyroid glandular cell Glandular cell of parathyroid epithelium. Example: Parathyroid chief cell and parathyroid oxyphil cells. tmpaxzxjjyw_mondo_relaxed.owl parathyroid gland glandular cells|parathyroid gland glandular cell CALOHA:TS-1279 owl:Class MONDO:0016904 biolink:NamedThing partial deletion of the long arm of chromosome 5 tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome 5q|partial deletion of the long arm of chromosome type 5|partial monosomy of chromosome 5q|partial monosomy of the long arm of chromosome 5 Orphanet:262038|ICD10:Q93.5 owl:Class MONDO:0015325 biolink:NamedThing cataract-deafness-hypogonadism syndrome Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. tmpaxzxjjyw_mondo_relaxed.owl Schaap-Taylor-Baraitser syndrome ICD10:Q87.8|Orphanet:1383|SCTID:722378009|MESH:C536626 owl:Class MONDO:0015635 biolink:NamedThing porokeratotic eccrine ostial and dermal duct nevus A rare, congenital disorder of the eccrine sweat ducts that presents as grouped keratotic papules and plaques with a linear distribution and/or multiple punctate pits filled with tiny keratotic plugs resembling comedones. The lesion are usually located on the acral portion of a limb. tmpaxzxjjyw_mondo_relaxed.owl Porokeratotic eccrine duct and hair follicle Nevus|comedo nevus of the palm|Porokeratotic eccrine nevus|linear eccrine Nevus with comedones SCTID:239118007|NCIT:C4740|UMLS:C0473579|Orphanet:166286|ICD10:Q82.5 owl:Class MONDO:0024482 biolink:NamedThing eccrine sweat gland hamartoma A hamartoma characterized by localized eccrine sweat gland malformation. tmpaxzxjjyw_mondo_relaxed.owl hamartoma of eccrine sweat gland|eccrine sweat gland hamartoma (disease)|hamartoma of the eccrine sweat gland|eccrine sweat gland hamartoma NCIT:C5564|UMLS:C1333372 owl:Class GO:0016861 biolink:NamedThing intramolecular oxidoreductase activity, interconverting aldoses and ketoses Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor, which is an aldose or a ketose, are the same molecule, and no oxidized product appears. tmpaxzxjjyw_mondo_relaxed.owl intramolecular isomerase activity, interconverting aldoses and ketoses owl:Class GO:0016860 biolink:NamedThing intramolecular oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor are the same molecule, and no oxidized product appears. tmpaxzxjjyw_mondo_relaxed.owl intramolecular isomerase activity|intramolecular oxidoreductase activity, other intramolecular oxidoreductases owl:Class MONDO:0015067 biolink:NamedThing neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon. tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine neoplasm of the colon|colon neuroendocrine tumor|carcinoid tumor of colon|colonic NET|NET of the colon NCIT:C135212 owl:Class MONDO:0013808 biolink:NamedThing Maffucci syndrome Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas. tmpaxzxjjyw_mondo_relaxed.owl multiple Angiomas and Endochondromas|enchondromatosis with hemangiomata|Maffucci's anomalad|Chondroplasia angiomatosis|Maffucci syndrome|enchondromatosis with multiple cavernous hemangiomas|multiple enchondromatosis, Maffucci type|chondrodysplasia with hemangioma|Dyschondroplasia and cavernous hemangioma|hemangiomata with Dyschondroplasia|Kast syndrome|Maffucci type enchondromatosis|Dyschondrodysplasia with hemangiomas|hemangiomatosis Chondrodystrophica GARD:0006958|SCTID:46041001|UMLS:C0024454|NCIT:C3213|Orphanet:163634|OMIM:166000|OMIM:614569|DOID:0060221|ICD10:Q78.4 https://rarediseases.info.nih.gov/diseases/6958/maffucci-syndrome owl:Class MONDO:0019293 biolink:NamedThing skin vascular disease A disease that involves the superficial vasculature. tmpaxzxjjyw_mondo_relaxed.owl vascular disease of the skin|skin vascular disorder|vascular disorder of skin|vasculature skin disease|vascular skin disease|vascular disorders of skin|disorder of blood vessels affecting skin|superficial vasculature disease Orphanet:79379|MedDRA:10062171|NCIT:C35254|DOID:9540|SCTID:11263005|ICD9:709.1|UMLS:C0162819|MESH:D017445 owl:Class MONDO:0043472 biolink:NamedThing ectopic ACTH secretion syndrome A syndrome characterized by abnormal secretion of adrenocorticotrophic hormone in conjunction with neoplastic growth occurring anywhere in the body. The most common associations are tumors of the bronchus (oat cell or carcinoid), thymic tumors (epithelial or carcinoid), and pancreatic endocrine tumor. (DeVita et al. Cancer, p 1364. 4th edition. Lippincott) tmpaxzxjjyw_mondo_relaxed.owl ectopic ACTH syndromes|ectopic ACTH syndrome|syndromes, ectopic ACTH|syndrome, ectopic ACTH|ectopic ACTH secretion syndrome|ACTH syndromes, ectopic|hypercortisolism due to nonpituitary tumor|ectopic ACTH secretion causing Cushing's syndrome|ectopic ACTH secretion SCTID:626004|UMLS:C0001231|MESH:D000182|NCIT:C4387 owl:Class MONDO:0021058 biolink:NamedThing neoplastic syndrome A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired. tmpaxzxjjyw_mondo_relaxed.owl tumor syndrome|cancer-related syndrome|neoplastic syndrome NCIT:C54705 owl:Class MONDO:0008796 biolink:NamedThing aniridia-renal agenesis-psychomotor retardation syndrome Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. tmpaxzxjjyw_mondo_relaxed.owl aniridia renal agenesis psychomotor retardation|aniridia, partial, with unilateral renal agenesis and psychomotor retardation|Sommer-Rathbun-Battles syndrome|aniridia partial with unilateral renal agenesis and psychomotor retardation|Sommer Rathbun Battles syndrome OMIM:206750|Orphanet:1064|GARD:0000690|MESH:C000598722|SCTID:733116005|ICD10:Q87.8|UMLS:C1859782 owl:Class UBERON:0010412 biolink:NamedThing epididymal fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016348 biolink:NamedThing non-genetic cardiac rhythm disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:218439|UMLS:CN201186 owl:Class MONDO:0022756 biolink:NamedThing chromosome 1q deletion Chromosome 1q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on thelong arm (q) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 1q|1q deletion|partial deletion of the long arm of chromosome type 1|monosomy 1q|1q monosomy|deletion 1q|partial monosomy 1q|partial monosomy of the long arm of chromosome 1|partial deletion of chromosome 1q|partial deletion of the long arm of chromosome 1 UMLS:CN072190|ICD10:Q93.5|GARD:0008669|Orphanet:262001 https://rarediseases.info.nih.gov/diseases/8669/chromosome-1q-deletion owl:Class UBERON:0005903 biolink:NamedThing duct of seminal vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000058 biolink:NamedThing duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004924 biolink:NamedThing chronic canaliculitis Chronic form of actinomycosis. tmpaxzxjjyw_mondo_relaxed.owl actinomycosis, chronic|chronic actinomycosis ICD9:375.41|UMLS:C0155240|DOID:9936|SCTID:26479009|ICD10:H04.42 owl:Class HGNC:6741 biolink:NamedThing LZTFL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001894 biolink:NamedThing diencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:20761 biolink:NamedThing ZFYVE26 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0003018 biolink:NamedThing vascular process in circulatory system A circulatory process that occurs at the level of the vasculature. tmpaxzxjjyw_mondo_relaxed.owl vasculature process owl:Class MONDO:0001764 biolink:NamedThing ethmoidal sinus neoplasm A benign or malignant neoplasm that affects the ethmoid sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl ethmoid sinus tumor|tumor of ethmoidal sinus|ethmoidal sinus neoplasm|neoplasm of ethmoid sinus|tumor of the ethmoid sinus|neoplasm of ethmoidal sinus|ethmoidal sinus tumor|neoplasm of the ethmoid sinus|neoplasm of the ethmoidal sinus|ethmoid sinus neoplasm (disease)|tumor of the ethmoidal sinus|tumor of ethmoid sinus|ethmoid sinus neoplasm DOID:1364|NCIT:C4416|SCTID:126677000|UMLS:C0345668 MONDO:0021215 owl:Class MONDO:0060627 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 15 tmpaxzxjjyw_mondo_relaxed.owl GPIBD15|glycosylphosphatidylinositol biosynthesis defect 15|developmental delay, epilepsy, cerebellar atrophy, and osteopenia Orphanet:529665|OMIM:617810|UMLS:C4540520 owl:Class ECTO:0000699 biolink:NamedThing exposure to probe An exposure to probe. tmpaxzxjjyw_mondo_relaxed.owl exposure to probe owl:Class ECTO:0000486 biolink:NamedThing exposure to chemical with application An exposure to application. tmpaxzxjjyw_mondo_relaxed.owl exposure to application owl:Class OBO:CHR_9606-chr2q24 biolink:NamedThing 2q24 (Human) tmpaxzxjjyw_mondo_relaxed.owl 168900000 154000000 hg38 owl:Class UBERON:0003418 biolink:NamedThing mesenchyme of submandibular gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003324 biolink:NamedThing mesenchyme of lower jaw tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006957 biolink:NamedThing root caries Dental caries involving the tooth root, cementum, or cervical area of the tooth. tmpaxzxjjyw_mondo_relaxed.owl root caries|dental caries of root surface|cementum caries|dental caries of cementum|cementum dental caries UMLS:C0162644|ICD9:521.08|MESH:D017213|DOID:14089|SCTID:30512007|EFO:1001163 owl:Class MONDO:0005276 biolink:NamedThing dental caries The decay of a tooth, in which it becomes softened, discolored, and/or porous. tmpaxzxjjyw_mondo_relaxed.owl dental caries of smooth surface|dental caries extending into pulp|dental caries pit and fissure ICD10:K02.6|ICD10:K02.9|NCIT:C52593|SCTID:80967001|MESH:D003731|UMLS:C0011334|ICD9:521.0|ICD9:521.06|ICD9:521.00|ICD10:K02|DOID:216|ICD9:521.07|EFO:0003819 owl:Class MONDO:0011989 biolink:NamedThing leishmaniasis Infectious disease that is transmitted through the bite of hematophagous female phlebotomine sand flies. The clinical spectrum ranges from asymptomatic to clinically overt disease which can remain localized to the skin or disseminate to the upper oral and respiratory mucous membranes or throughout the reticulo-endothelial system. Three main clinical syndromes have been described: visceral (or Kala-Azar; with fever, weight loss, hepatosplenomegaly), cutaneous, and mucocutaneous leishmaniasis (cutaneous or mucocutaneous ulceration). tmpaxzxjjyw_mondo_relaxed.owl post kala-Azar dermal leishmaniasis|post-kala-azar dermal infectious disease by leishmaniasis|cutaneous leishmaniasis (subtype)|visceral leishmaniasis (subtype)|post-kala-azar dermal leishmaniasis EFO:0005044|SCTID:80612004|MedDRA:10024198|Orphanet:507|DOID:9065|ICD10:B55|GARD:0006881|UMLS:C0023281|ICD9:085|ICD10:B55.2|ICD9:085.9|ICD10:B55.9|NCIT:C34767|MESH:D007896|ICD10:B55.0|ICD10:B55.1|OMIM:608207 owl:Class HP:0012234 biolink:NamedThing Agranulocytosis Marked decrease in the number of granulocytes. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0702094 Agranulocytosis is defined as an absolute neutrophil count less than 500 cells/microliter. peter 2013-03-31T09:42:50Z human_phenotype owl:Class HP:0001913 biolink:NamedThing Granulocytopenia An abnormally reduced number of granulocytes in the blood. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:417672002|MSH:D000380|UMLS:C0001824|SNOMEDCT_US:17182001 human_phenotype owl:Class MONDO:0001178 biolink:NamedThing pseudopterygium tmpaxzxjjyw_mondo_relaxed.owl ICD9:372.52|SCTID:66139007|UMLS:C0155161|DOID:11028 owl:Class UBERON:0013228 biolink:NamedThing sweat gland of eyelid tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013229 biolink:NamedThing eyelid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045935 biolink:NamedThing positive regulation of nucleobase-containing compound metabolic process Any cellular process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpaxzxjjyw_mondo_relaxed.owl stimulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|up regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|up-regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|activation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|upregulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism owl:Class MONDO:0011115 biolink:NamedThing spastic paraplegia and Evans syndrome tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia and Evans syndrome MESH:C566652|UMLS:C1866619|OMIM:601608 owl:Class UBERON:0012139 biolink:NamedThing segment of autopod tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002529 biolink:NamedThing limb segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:20603 biolink:NamedThing DHDDS tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2846 biolink:NamedThing DGCR6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020580 biolink:NamedThing germinomatous germ cell tumor A term that refers to germinoma, seminoma, or dysgerminoma. tmpaxzxjjyw_mondo_relaxed.owl germinomatous germ cell tumor UMLS:C4054897|NCIT:C121618 owl:Class MONDO:0010765 biolink:NamedThing 46,XY complete gonadal dysgenesis 46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype. tmpaxzxjjyw_mondo_relaxed.owl testis-determining Factor, X-chromosomal|46, XY complete gonadal dysgenesis|46,XY SEX reversal|sex-reversing locus on X, formerly|46 XY gonadal dysgenesis|sex-reversing locus on X|46,XY gonadal dysgenesis|Swyer syndrome|46, XY CGD|pure gonadal dysgenesis 46,XY|gonadal dysgenesis, XY female type|46,XY pure gonadal dysgenesis|46, XY pure gonadal dysgenesis|46,XY CGD OMIM:154230|OMIM:607080|OMIM:400044|OMIM:616425|OMIM:612965|ICD10:Q99.1|OMIM:613762|MESH:C567575|OMIM:233420|OMIMPS:400044|GARD:0005068|Orphanet:242|UMLS:C0018054|OMIM:613080|DOID:14448|SCTID:95218005|MESH:D006061|OMIM:300018|NCIT:C120198|OMIM:614279|UMLS:C2936694|MESH:C567574|OMIM:616067 owl:Class MONDO:0009717 biolink:NamedThing Schwartz-Jampel syndrome A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia). tmpaxzxjjyw_mondo_relaxed.owl Schwartz-Jampel-Aberfeld syndrome|SJS|osteochondromuscular dystrophy|Schwartz Jampel Aberfeld syndrome|burton syndrome|Osteochondromuscular dystrophy|Catel-Hempel syndrome|Aberfeld syndrome|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|burton skeletal dysplasia|myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities|dysostosis enchondralis metaepiphysaria, Catel-Hempel type|Catel-Hempel type dysostosis enchondralis metaepiphysaria|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities|Schwartz-Jampel syndrome|Schwartz Jampel syndrome|myotonic chondrodystrophy GARD:0000250|OMIM:255800|UMLS:C0036391|SCTID:29145002|NCIT:C35008|Orphanet:800|ICD9:759.89|ICD10:G71.1|ICD10:Q78.8 owl:Class MONDO:0016151 biolink:NamedThing qualitative or quantitative defects of perlecan tmpaxzxjjyw_mondo_relaxed.owl Orphanet:207101 owl:Class MONDO:0010917 biolink:NamedThing chondrocalcinosis 1 tmpaxzxjjyw_mondo_relaxed.owl chondrocalcinosis with early-onset osteoarthritis|chondrocalcinosis 1|CCAL1 MESH:C535938|Orphanet:1416|OMIM:600668|GARD:0006048 owl:Class MONDO:0001314 biolink:NamedThing chondrocalcinosis An acute episode of pain, swelling, and redness, sometimes associated with fever. It is caused by the deposition of calcium pyrophosphate crystals in the joints. tmpaxzxjjyw_mondo_relaxed.owl pseudogout|calcium pyrophosphate deposition disease SCTID:239832006|DOID:1156|OMIM:600668|ICD9:712.1|HP:0000934|OMIM:118610|NCIT:C34955|OMIM:118600|MESH:D002805|ICD9:275.49|Orphanet:1416 owl:Class GO:0010674 biolink:NamedThing negative regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle Any process that decreases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|activation of meiosis by negative regulation of transcription from RNA polymerase II promoter|positive regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|up regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|stimulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|upregulation of meiosis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter, meiotic owl:Class GO:0051038 biolink:NamedThing negative regulation of transcription involved in meiotic cell cycle Any process that stops, prevents, or reduces the frequency, rate or extent of transcription involved in the meiotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl downregulation of transcription during meiosis|negative regulation of meiotic transcription|negative regulation of transcription, meiotic|down-regulation of transcription during meiosis|inhibition of transcription during meiosis|meiotic repression of transcription|down regulation of transcription during meiosis owl:Class MONDO:0009796 biolink:NamedThing ornithine aminotransferase deficiency A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract. tmpaxzxjjyw_mondo_relaxed.owl gyrate atrophy of the retina|OKT deficiency|Girate atrophy of the retina|Fuchs gyrate atrophy of the choroid and retina|ornithine aminotransferase deficiency|hoga|gyrate atrophy of the choroid and/or retina|hyperornithinemia-gyrate atrophy of choroid and retina syndrome|hyperornithinemia with gyrate atrophy of choroid and retina|Oat deficiency|ornithine Keto acid aminotransferase deficiency|gyrate atrophy|hyperornithinemia|Fuchs atrophia gyrata chorioideae et retinae|GACR|Ornithinemia with gyrate atrophy|OAT deficiency|Okt deficiency|gyrate atrophy of choroid and retina|Ornithinemia|Fuchs gyrate atrophy|ornithine ketoacid aminotransferase deficiency|ornithine-Delta-aminotransferase deficiency Orphanet:414|GARD:0007272|GARD:0006556|NCIT:C84744|ICD10:E72.4|MESH:D015799|MESH:C538071|UMLS:C0018425|OMIM:258870|DOID:1415 https://rarediseases.info.nih.gov/diseases/6556/gyrate-atrophy-of-choroid-and-retina owl:Class GO:0009057 biolink:NamedThing macromolecule catabolic process The chemical reactions and pathways resulting in the breakdown of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpaxzxjjyw_mondo_relaxed.owl biopolymer catabolic process|multicellular organismal macromolecule catabolic process|macromolecule catabolism|macromolecule degradation|macromolecule breakdown owl:Class GO:0043170 biolink:NamedThing macromolecule metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpaxzxjjyw_mondo_relaxed.owl multicellular organismal macromolecule metabolic process|organismal macromolecule metabolism|macromolecule metabolism|biopolymer metabolic process owl:Class MONDO:0044777 biolink:NamedThing premature ovarian failure 14 tmpaxzxjjyw_mondo_relaxed.owl premature ovarian failure 14|POF14|GDF9-related primary ovarian insufficiency OMIM:618014|GTR:AN1172965|UMLS:CN757793|UMLS:CN753759 owl:Class GO:0032868 biolink:NamedThing response to insulin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. tmpaxzxjjyw_mondo_relaxed.owl response to insulin stimulus owl:Class GO:0043434 biolink:NamedThing response to peptide hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. tmpaxzxjjyw_mondo_relaxed.owl response to peptide hormone stimulus|response to polypeptide hormone stimulus owl:Class MONDO:0000405 biolink:NamedThing anal canal cancer A malignant neoplasm involving the anal canal tmpaxzxjjyw_mondo_relaxed.owl cancer of anal canal|anal canal cancer|malignant anal canal neoplasm|malignant neoplasm of anal canal ICD9:154.2|DOID:0050688|SCTID:363352004|UMLS:C0153445 owl:Class CHEBI:33672 biolink:NamedThing heterobicyclic compound A bicyclic compound in which at least one of the rings contains at least one skeletal heteroatom. tmpaxzxjjyw_mondo_relaxed.owl heterobicyclic compounds owl:Class CHEBI:5686 biolink:NamedThing heterocyclic compound A cyclic compound having as ring members atoms of at least two different elements. tmpaxzxjjyw_mondo_relaxed.owl compuesto heterociclico|compuestos heterociclicos|heterocyclic compounds|heterocycle|Heterocyclic compound owl:Class HGNC:2671 biolink:NamedThing DAO tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019471 biolink:NamedThing adult T-cell leukemia/lymphoma A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1), adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa. tmpaxzxjjyw_mondo_relaxed.owl adult T-cell lymphoma|HTLV-1 associated adult T-cell lymphoma/leukemia|HTLV-I associated adult T-cell leukemia/lymphoma|adult T-cell leukaemia|adult T-cell leukemia|T-cell leukemia of adults|ATLL|adult T-cell leukaemia/lymphoma (HTLV-1 positive)|adult T-cell leukemia/lymphoma|adult T cell lymphoma/leukemia|adult T-cell lymphoma/leukemia Orphanet:86875|ICD10:C91.5|NCIT:C3184|ICDO:9827/3|DOID:0050523|ICD10:C91.50|ONCOTREE:ATLL|UMLS:C0023493|GARD:0013103|MedDRA:10001413|SCTID:110007008|ICD9:204.80 owl:Class UBERON:0004467 biolink:NamedThing musculature of pharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001015 biolink:NamedThing musculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012954 biolink:NamedThing colorectal cancer, susceptibility to, 11 tmpaxzxjjyw_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 20P|colorectal cancer, susceptibility to, 11|CRCS11 OMIM:612592 owl:Class MONDO:0005575 biolink:NamedThing colorectal cancer A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of large bowel|large intestine cancer|malignant neoplasm of the large bowel|malignant large bowel tumor|cancer of colorectum|malignant neoplasm of large bowel|malignant neoplasm of large intestine|malignant colorectum neoplasm|cancer of the large bowel|malignant tumor of the large intestine|malignant large intestine neoplasm|malignant large bowel neoplasm|malignant colorectal neoplasm|colorectum cancer|cancer of large intestine|colon cancer|cancer of large bowel|malignant neoplasm of colorectum|colorectal cancer|malignant tumor of the large bowel|malignant tumor of large intestine|malignant colorectal tumor|malignant neoplasm of the large intestine|CRC|malignant large intestine tumor OMIM:608812|OMIM:611469|KEGG:05210|OMIM:612229|UMLS:C0699790|NCIT:C4978|NCIT:C2955|OMIM:612231|OMIM:114500|UMLS:C1319315|OMIM:612230|OMIM:612591|SCTID:408645001|ICD10:C18.9|MESH:D015179|DOID:9256|OMIM:612232|EFO:0005842|OMIM:612590|OMIM:615083|Orphanet:466667|OMIM:612589|NCIT:C5105|SCTID:363510005|OMIM:612592|UMLS:C1527249|DOID:5672 Editor note: some sources make distinct classes for colorectal vs large intestine. We follow NCIT and make these equivalent MONDO:0003576|MONDO:0021307 owl:Class MONDO:0002617 biolink:NamedThing bone angiosarcoma A high-grade malignant vascular neoplasm that arises from the bone. It is characterized by the presence of neoplastic cells with endothelial differentiation. tmpaxzxjjyw_mondo_relaxed.owl angiosarcoma (disease) of bone tissue|osseous angiosarcoma|osseous hemangiosarcoma|bone tissue angiosarcoma (disease)|bone Hemangioendothelial sarcoma|bone hemangiosarcoma|bone angioendothelial sarcoma|osseous angioendothelial sarcoma|bone angiosarcoma UMLS:C1332574|NCIT:C6479|DOID:3351 owl:Class MONDO:0024499 biolink:NamedThing vascular bone neoplasm A benign, intermediate, or malignant vascular neoplasm that arises from the bone. tmpaxzxjjyw_mondo_relaxed.owl bone vascular neoplasm|osseous vascular neoplasm|osseous vascular tumor|vascular tumor of bone|vascular neoplasm of bone|bone vascular tumor|vascular neoplasm of the bone|vascular bone neoplasm|vascular tumor of the bone UMLS:C1336946|NCIT:C6478 owl:Class CHEBI:32178 biolink:NamedThing Talc tmpaxzxjjyw_mondo_relaxed.owl Talc owl:Class CHEBI:50860 biolink:NamedThing organic molecular entity Any molecular entity that contains carbon. tmpaxzxjjyw_mondo_relaxed.owl organic compounds|organic molecular entities|organic entity owl:Class MONDO:0044764 biolink:NamedThing benign choroid plexus neoplasm tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the choroid plexus|benign choroid plexus neoplasms|benign tumor of choroid plexus|benign choroid plexus neoplasm|benign neoplasm of choroid plexus|benign tumor of the choroid plexus|benign choroid plexus tumors|benign choroid plexus tumor UMLS:C0346290|NCIT:C8405|SCTID:254943007 owl:Class MONDO:0016717 biolink:NamedThing choroid plexus neoplasm An intraventricular papillary neoplasm that originates from the choroid plexus epithelium. It includes the choroid plexus papilloma, atypical choroid plexus papilloma, and choroid plexus carcinoma. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of choroid plexus|choroid plexus tumor|neoplasm of the choroid plexus|tumor of choroid plexus|choroid plexus neoplasm|tumor of the choroid plexus SCTID:254942002|UMLS:C0085138|Orphanet:251896|ONCOTREE:CPT|NCIT:C3473 Editor note: see ticket on ncit tracker MONDO:0021226 owl:Class MONDO:0001152 biolink:NamedThing amnestic disorder Systematic and extensive loss of memory caused by organic or psychological factors. The loss may be temporary or permanent, and may involve old or recent memories. tmpaxzxjjyw_mondo_relaxed.owl amnesia|Korsakoff's psychosis or syndrome|amnesic syndrome|amnestic syndrome NCIT:C2867|EFO:1001454|DOID:10914|ICD10:R41.3|SCTID:3298001|ICD9:294.0 owl:Class MONDO:0002039 biolink:NamedThing cognitive disorder A disease affects cognitive processes. tmpaxzxjjyw_mondo_relaxed.owl organic mental disorder|cognitive disorder|cognitive disease ICD10:F09|NCIT:C92196|ICD9:294.9|DOID:1561|MESH:D019965|EFO:1001457|SCTID:443265004 owl:Class MONDO:0009675 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2A Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 2A|LGMD2A|CAPN3 autosomal recessive limb-girdle muscular dystrophy|primary calpainopathy|LGMD2|Leyden-Moebius muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy type 2A|pelvofemoral muscular dystrophy|myositis, eosinophilic|muscular dystrophy, Pelvofemoral|muscular dystrophy, limb-girdle, type 2|limb-girdle muscular dystrophy type 2A|muscular dystrophy limb girdle type 2A, erb type|limb-girdle muscular dystrophy due to calpain deficiency|calpainopathy|limb-girdle muscular dystrophy type 2|autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3 SCTID:715341003|NCIT:C142079|ICD10:G71.0|GARD:0001057|DOID:0110275|OMIM:253600|Orphanet:267|MESH:C535895|GARD:0003845 owl:Class MONDO:0016152 biolink:NamedThing qualitative or quantitative defects of calpain tmpaxzxjjyw_mondo_relaxed.owl Orphanet:207104 Editor note: TODO request for IPR001300 owl:Class MONDO:0027766 biolink:NamedThing generalized lipodystrophy Almost complete absence of subcutaneous and/or visceral adipose tissue. tmpaxzxjjyw_mondo_relaxed.owl complete generalized lipodystrophy NCIT:C131815|HP:0009064|UMLS:C4317112|DOID:0080298 owl:Class MONDO:0020863 biolink:NamedThing laryngeal diphtheria Infection of the larynx by Corynebacterium diphtheriae. tmpaxzxjjyw_mondo_relaxed.owl diphtheritic laryngotracheitis|Diphtheritic laryngotracheitis|laryngeal diphtheria|Laryngeal Diphtheria|Laryngeal diphtheria UMLS:C0012557|SCTID:50215002|ICD9:032.3|NCIT:C34546 owl:Class MONDO:0005504 biolink:NamedThing diphtheria A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects. tmpaxzxjjyw_mondo_relaxed.owl Corynebacterium infection EFO:0005549|ICD10:A36.8|ICD10:A36.2|ICD10:A36.3|ICD10:A36|ICD10:A36.1|ICD9:032.9|NCIT:C34541|ICD10:A36.0|MESH:D004165|GARD:0001875|ICD10:A36.9|ICD9:032|Orphanet:1679|DOID:11405|UMLS:C0012546|SCTID:397428000|MedDRA:10013023 https://rarediseases.info.nih.gov/diseases/1875/diphtheria owl:Class GO:0002381 biolink:NamedThing immunoglobulin production involved in immunoglobulin-mediated immune response The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels. tmpaxzxjjyw_mondo_relaxed.owl immunoglobulin production involved in immune response|immunoglobulin production during immune response|immunoglobulin biosynthetic process involved in immune response|immunoglobulin secretion involved in immune response|immunoglobulin production involved in immunoglobulin mediated immune response|antibody production during immune response|antibody secretion during immune response owl:Class GO:0002377 biolink:NamedThing immunoglobulin production The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. tmpaxzxjjyw_mondo_relaxed.owl antibody production|immunoglobulin biosynthetic process|immunoglobulin secretion owl:Class MONDO:0016548 biolink:NamedThing megacystis-megaureter syndrome Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine. Recurrent urinary infections are commonly associated with this condition. tmpaxzxjjyw_mondo_relaxed.owl megaureter-megacystis syndrome ICD10:Q62.7|Orphanet:238637|SCTID:253904001 owl:Class MONDO:0019720 biolink:NamedThing non-syndromic renal or urinary tract malformation A renal or urinary tract malformation that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic congenital anomaly of kidney and urinary tract|isolated congenital anomaly of kidney and urinary tract|isolated renal or urinary tract malformation|nonsyndromic renal or urinary tract malformation Orphanet:93546 owl:Class MONDO:0019928 biolink:NamedThing 48,XXXY syndrome The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males. tmpaxzxjjyw_mondo_relaxed.owl 48, XXXY syndrome|XXXY syndrome GARD:0005676|UMLS:C0265498|NCIT:C89799|MedDRA:10048228|ICD9:758.81|Orphanet:96263|ICD10:Q98.1|SCTID:78317008 https://rarediseases.info.nih.gov/diseases/5676/48xxxy-syndrome owl:Class MONDO:0020090 biolink:NamedThing male infertility due to gonadal dysgenesis tmpaxzxjjyw_mondo_relaxed.owl Male infertility due to testicular dysgenesis 2022-03-01 Orphanet:98313 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class NCBITaxon:31244 biolink:NamedThing Schistosomatoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6180 biolink:NamedThing Strigeidida tmpaxzxjjyw_mondo_relaxed.owl Strigeida GC_ID:1 ncbi_taxonomy owl:Class MONDO:0043985 biolink:NamedThing central nervous system lupus Inflammation that includes the brain, spinal cord and surrounding tissues secondary to systemic lupus erythematosus (SLE); it is associated with neurological and/or psychiatric features. tmpaxzxjjyw_mondo_relaxed.owl neuropsychiatric systemic lupus erythematosus|meningoencephalitis, lupus|lupus meningoencephalitis|central nervous system systemic lupus Erythematosis|central nervous system lupus vasculitis|lupus Meningoencephalitides|Meningoencephalitides, lupus|systemic lupus Erythematosis, central nervous system|CNS lupus|central nervous system lupus EFO:1001453|MESH:D020945|NCIT:C116919 owl:Class MONDO:0007915 biolink:NamedThing systemic lupus erythematosus An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific. tmpaxzxjjyw_mondo_relaxed.owl SLE - lupus erythematosus, systemic|disseminated lupus erythematosus|systemic lupus erythematosus (disease)|excess lymphocyte low molecular weight DNA|lupus erythematosus, systemic|SLE|excess LMW-DNA|systemic lupus erythematosus systemic lupus erythematosus (disease) OMIM:605480|OMIM:610065|OMIM:609939|HP:0002725|OMIM:610066|OMIM:612253|OMIM:300809|OMIM:601744|MESH:D008180|KEGG:05322|NCIT:C3201|OMIM:612378|ICD10:M32.0|ICD10:M32|ICD10:M32.9|OMIM:613145|Orphanet:536|OMIM:152700|ICD10:M32.8|OMIM:608437|OMIM:614420|OMIM:612254|SCTID:55464009|OMIM:605218|DOID:9074|EFO:0002690|OMIM:609903|OMIM:612251|ICD9:710.0|ICD10:M32.1|OMIM:610927 owl:Class GO:0002709 biolink:NamedThing regulation of T cell mediated immunity Any process that modulates the frequency, rate, or extent of T cell mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl regulation of T-cell mediated immunity|regulation of T-lymphocyte mediated immunity|regulation of T lymphocyte mediated immunity owl:Class GO:0010950 biolink:NamedThing positive regulation of endopeptidase activity Any process that increases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010952 biolink:NamedThing positive regulation of peptidase activity Any process that increases the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010549 biolink:NamedThing Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females. tmpaxzxjjyw_mondo_relaxed.owl HMSN, X-linked|hereditary motor and sensory neuropathy, X-linked|Charcot-Marie-Tooth disease X-linked dominant type 1|X-linked Charcot-Marie-Tooth disease type 1|Charcot Marie Tooth disease X-linked 1|Charcot-Marie-Tooth neuropathy, X-linked, 1|CMTX1|Charcot-Marie-Tooth disease type X caused by mutation in GJB1|CMT2, formerly|CMT1X|Charcot-Marie-Tooth disease, X-linked, 1|CMTX|CMTX 1|Charcot-Marie-Tooth disease, X-linked dominant, 1|Charcot-Marie-Tooth neuropathy X type 1|Charcot-Marie-Tooth disease X-linked dominant 1|CMT2|Charcot-Marie-Tooth peroneal muscular atrophy, X-linked|GJB1 Charcot-Marie-Tooth disease type X|Charcot-Marie-Tooth disease, X-linked dominant, type 1|Charcot-Marie-Tooth neuropathy X-linked dominant 1 GARD:0001258|SCTID:763455008|NCIT:C129068|ICD10:G60.0|OMIM:302800|UMLS:C0393808|Orphanet:101075|DOID:0110209 owl:Class MONDO:0018994 biolink:NamedThing Charcot-Marie-Tooth disease type X A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome. tmpaxzxjjyw_mondo_relaxed.owl COWCK|X-linked hereditary motor and sensory neuropathy|X-linked Charcot-Marie-Tooth disease|CMTX DOID:0050542|ICD9:356.9|ICD10:G60.0|SCTID:230552007|Orphanet:64747|UMLS:CN205436|GARD:0012444 owl:Class MONDO:0001377 biolink:NamedThing vitreous syneresis tmpaxzxjjyw_mondo_relaxed.owl vitreous degeneration UMLS:C0155366|ICD9:379.21|DOID:11816|ICD10:H43.81|SCTID:60189009 Editor note: TODO consider cede to HPO owl:Class MONDO:0007713 biolink:NamedThing clonic hemifacial spasm tmpaxzxjjyw_mondo_relaxed.owl hemifacial spasm|facial hemispasm|hemifacial spasm, familial|focal myoclonus of face MESH:C564198|UMLS:C1841639|UMLS:C3536936|ICD10:G51.3|OMIM:141405|Orphanet:221083 owl:Class MONDO:0016375 biolink:NamedThing acquired peripheral movement disorder tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226913|Orphanet:221114 owl:Class UBERON:0001800 biolink:NamedThing sensory ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003486 biolink:NamedThing basaloid squamous cell carcinoma A squamous cell carcinoma characterized by the presence of cells with hyperchromatic nuclei, scant amount of cytoplasm, and peripheral nuclear palisading. tmpaxzxjjyw_mondo_relaxed.owl basaloid squamous cell carcinoma|basaloid carcinoma (morphologic abnormality)|basaloid squamous cell carcinoma (morphologic abnormality)|basaloid carcinoma UMLS:C1266005|NCIT:C54244|DOID:5522|ICDO:8083/3 owl:Class GO:0002796 biolink:NamedThing positive regulation of antimicrobial peptide secretion Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide secretion. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of antimicrobial peptide secretion|stimulation of antimicrobial peptide secretion|upregulation of antimicrobial peptide secretion|up regulation of antimicrobial peptide secretion|activation of antimicrobial peptide secretion owl:Class GO:0002225 biolink:NamedThing positive regulation of antimicrobial peptide production Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide production. tmpaxzxjjyw_mondo_relaxed.owl stimulation of antimicrobial peptide production|upregulation of antimicrobial peptide production|antimicrobial peptide induction|up-regulation of antimicrobial peptide production|up regulation of antimicrobial peptide production|activation of antimicrobial peptide production owl:Class MONDO:0009562 biolink:NamedThing beta-mannosidosis Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. tmpaxzxjjyw_mondo_relaxed.owl beta-mannosidosis|beta-mannosidase deficiency|MANSB|lysosomal Beta-mannosidase deficiency|Beta-D-mannosidosis|Beta-mannosidase deficiency|lysosomal beta-mannosidase deficiency|mannosidosis, BETA A, lysosomal MESH:D044905|SCTID:238047006|UMLS:C4048196|OMIM:248510|ICD9:271.8|NCIT:C84596|ICD10:E77.1|Orphanet:118|GARD:0000869|DOID:3633 owl:Class MONDO:0009792 biolink:NamedThing ichthyosis-oral and digital anomalies syndrome Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl ichthyosis tapered fingers midline groove up|Clayton Smith-Donnai syndrome|unusual facies, digital abnormalities, and ichthyosis|oral and digital anomalies with ichthyosis UMLS:C1850268|MESH:C536272|Orphanet:2272|GARD:0002960|OMIM:258840 owl:Class MONDO:0017270 biolink:NamedThing autosomal ichthyosis syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:281217|UMLS:CN202791 owl:Class MONDO:0013786 biolink:NamedThing cone-rod dystrophy 16 Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene. tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy 16|CORD16|C8orf37 cone-rod dystrophy|cone-rod dystrophy caused by mutation in C8orf37|retinitis pigmentosa 64|cone-rod dystrophy type 16|retinal dystrophy with early macular involvement UMLS:C3281045|DOID:0111022|OMIM:614500 owl:Class MONDO:0014021 biolink:NamedThing familial episodic pain syndrome with predominantly upper body involvement tmpaxzxjjyw_mondo_relaxed.owl episodic pain syndrome, familial, type 1|FEPS1|episodic pain syndrome, familial, 1 UMLS:C3808667|OMIM:615040|Orphanet:391384|ICD10:M79.6|Orphanet:391389|UMLS:CN204968 owl:Class MONDO:0018319 biolink:NamedThing familial episodic pain syndrome tmpaxzxjjyw_mondo_relaxed.owl FEPS OMIM:615551|OMIM:615040|Orphanet:391384|ICD10:M79.6|DOID:0111728|OMIM:615552|UMLS:CN204967|OMIMPS:615040|GARD:0012684|UMLS:CN228162 https://rarediseases.info.nih.gov/diseases/12684/familial-episodic-pain-syndrome owl:Class GO:0001956 biolink:NamedThing positive regulation of neurotransmitter secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a neurotransmitter. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of neurotransmitter secretion|activation of neurotransmitter secretion|up regulation of neurotransmitter secretion|stimulation of neurotransmitter secretion|upregulation of neurotransmitter secretion owl:Class GO:0051590 biolink:NamedThing positive regulation of neurotransmitter transport Any process that activates or increases the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl activation of neurotransmitter transport|up-regulation of neurotransmitter transport|up regulation of neurotransmitter transport|stimulation of neurotransmitter transport|upregulation of neurotransmitter transport owl:Class MONDO:0013670 biolink:NamedThing myopia, high, with cataract and vitreoretinal degeneration tmpaxzxjjyw_mondo_relaxed.owl MCVD|myopia, high, with cataract and vitreoretinal degeneration OMIM:614292|UMLS:C3280346|Orphanet:98619 owl:Class MONDO:0015020 biolink:NamedThing intellectual disability, autosomal recessive 59 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 59|MRT59|intellectual disability, autosomal recessive type 59|intellectual disability, autosomal recessive 59|IMPA1 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 59|autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1 OMIM:617323|UMLS:C4310619 owl:Class MONDO:0019502 biolink:NamedThing autosomal recessive non-syndromic intellectual disability Autosomal recessive form of non-syndromic intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl NS-ARID|autosomal recessive intellectual disability|mental retardation, autosomal recessive|non-syndromic intellectual disability, autosomal recessive|intellectual disability, autosomal recessive|autosomal recessive mental retardation|autosomal recessive non-syndromic intellectual disability|AR-NSID|autosomal recessive non-syndromic mental retardation OMIM:614347|OMIM:611107|OMIM:615802|OMIM:614345|OMIM:616460|OMIM:615979|OMIM:607417|OMIM:616116|OMIM:615942|OMIM:615599|Orphanet:88616|OMIM:614329|OMIMPS:249500|OMIM:614343|OMIM:615637|OMIM:615817|OMIM:615541|OMIM:616459|OMIM:611092|OMIM:615493|OMIM:613192|OMIM:614344|OMIM:614346|OMIM:614020|OMIM:614333|OMIM:608443|OMIM:616193|OMIM:614342|DOID:0060308|OMIM:614208|OMIM:617028|OMIM:611096|UMLS:CN206293|OMIM:611093|OMIM:616887|OMIM:614202|OMIM:614340|OMIM:614499|OMIM:614249|OMIM:611097|OMIM:617125|OMIM:249500|OMIM:611091|OMIM:614341|OMIM:611090|OMIM:616739|OMIM:611095|OMIM:617188|OMIM:615516 Editor note: misclassified in ORDO: https://github.com/monarch-initiative/monarch-disease-ontology/issues/407 owl:Class MONDO:0022607 biolink:NamedThing extraovarian Brenner tumor of the vagina A Brenner tumor that involves the vagina. tmpaxzxjjyw_mondo_relaxed.owl Brenner tumor of the vagina|extraovarian Brenner tumor of the vagina|vagina Brenner tumor GARD:0010006 https://rarediseases.info.nih.gov/diseases/10006/brenner-tumor-of-the-vagina owl:Class MONDO:0024235 biolink:NamedThing Brenner tumor A usually benign tumor composed of solid and cystic nests of epithelial cells resembling transitional epithelium; it is surrounded by an abundant stromal component that is dense and fibroblastic in nature. tmpaxzxjjyw_mondo_relaxed.owl Brenner tumor ONCOTREE:BTOV|NCIT:C39954|ICDO:9000/0 owl:Class MONDO:0002425 biolink:NamedThing rectosigmoid junction cancer A primary or metastatic malignant neoplasm that affects the rectosigmoid area. Representative examples include carcinoma, lymphoma, and sarcoma. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of rectosigmoid junction|malignant neoplasm of rectosigmoid|malignant rectosigmoid neoplasm|cancer of rectosigmoid junction|malignant neoplasm of the rectosigmoid junction|rectosigmoid junction cancer|malignant rectosigmoid tumor|malignant tumor of the rectosigmoid junction|malignant neoplasm of rectosigmoid junction|malignant rectosigmoid junction neoplasm DOID:2782|ICD10:C19|NCIT:C7420|SCTID:363414004|ICD9:154.0|UMLS:C0153443 owl:Class MONDO:0021232 biolink:NamedThing pineal body neoplasm A neoplasm (disease) that involves the pineal body. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of pineal body|pineal region neoplasm|neoplasm of pineal area|pineal area neoplasm|tumor of the pineal area|tumor of pineal area|pineal region tumor|pineal body neoplasm (disease)|pineal area tumor|tumor of pineal body|neoplasm of the pineal area|pineal tumor|neoplasm of the pineal region|pineal body tumor|tumor of pineal region|pineal neoplasm|neoplasm of pineal region|pinealoma|tumor of the pineal region NCIT:C3328|ONCOTREE:PINT owl:Class MONDO:0003081 biolink:NamedThing thalamic disorder A disorder of the thalamus. Causes include brain neoplasms, cerebrovascular disorders, brain trauma, brain hypoxia, infections, and brain hemorrhage. Signs and symptoms include movement and sensory abnormalities, visual abnormalities, ataxia, and coma. tmpaxzxjjyw_mondo_relaxed.owl disease of dorsal plus ventral thalamus|dorsal plus ventral thalamus disease|disease or disorder of dorsal plus ventral thalamus|disorder of dorsal plus ventral thalamus|dorsal plus ventral thalamus disease or disorder UMLS:C0039726|NCIT:C85186|MESH:D013786|DOID:4662 owl:Class MONDO:0014567 biolink:NamedThing glutamate pyruvate transaminase 2 deficiency tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 49|glutamate pyruvate transaminase 2 deficiency|MRT49|postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome|mental retardation, autosomal recessive type 49|GPT2 deficiency Orphanet:477673|OMIM:616281 owl:Class MONDO:0008260 biolink:NamedThing Kindler syndrome Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. tmpaxzxjjyw_mondo_relaxed.owl Kindler syndrome|KNDLRS|KS|poikiloderma, congenital, with bullae, Weary type|poikiloderma, hereditary acrokeratotic|congenital bullous poikiloderma|KINDLER syndrome|poikiloderma of Kindler|bullous acrokeratotic poikiloderma of Kindler and Weary DOID:0060472|SCTID:238836000|MESH:C536321|GARD:0004391|Orphanet:2908|ICD10:Q81.8|OMIM:173650 owl:Class MONDO:0019276 biolink:NamedThing inherited epidermolysis bullosa Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa hereditaria|hereditary epidermolysis bullosa ICD10:Q81.1|ICD9:757.39|Orphanet:79361|ICD10:Q81.2|ICD10:Q81.0|ICD10:Q81.9|SCTID:402781004|ICD10:Q81.8 owl:Class MONDO:0016516 biolink:NamedThing Kenny-Caffey syndrome A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia. tmpaxzxjjyw_mondo_relaxed.owl Kenny syndrome OMIM:127000|SCTID:82837002|Orphanet:2333|OMIM:244460|ICD10:Q87.1|UMLS:C0265291|NCIT:C130991|OMIMPS:127000|MESH:C537020|ICD9:759.89 owl:Class UBERON:0010123 biolink:NamedThing future facial nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002020 biolink:NamedThing gray matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002169 biolink:NamedThing basal cell of olfactory epithelium An epithelial cell located on the basal lamina of the olfactory epithelium. tmpaxzxjjyw_mondo_relaxed.owl horizontal basal call FMA:62303 tmeehan 2010-08-26T01:58:54Z CL:1000395 cell owl:Class CL:0002167 biolink:NamedThing olfactory epithelial cell A specialized cell involved in sensory perception of smell. tmpaxzxjjyw_mondo_relaxed.owl FMA:67870 tmeehan 2010-08-26T01:47:13Z cell owl:Class MONDO:0008428 biolink:NamedThing septooptic dysplasia Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. tmpaxzxjjyw_mondo_relaxed.owl septo-optic dysplasia sequence|hypopituitarism and septooptic 'dysplasia'|septooptic dysplasia|SOD|septo-optic dysplasia|Growth hormone deficiency with pituitary anomalies|septo-optic dysplasia with growth hormone deficiency|De Morsier syndrome|pituitary hormone deficiency, combined, 5|septo-optic dysplasia spectrum GARD:0007627|SCTID:7611002|UMLS:C0162809|MedDRA:10067159|MESH:D025962|Orphanet:95494|ICD10:Q04.8|NCIT:C85063|UMLS:C0338503|OMIM:182230|Orphanet:3157|DOID:0060857 owl:Class MONDO:0010072 biolink:NamedThing spondyloepiphyseal dysplasia tarda, autosomal recessive Autosomal recessive form of spondyloepiphyseal dysplasia tarda. tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia tarda, autosomal recessive|autosomal recessive spondyloepiphyseal dysplasia tarda OMIM:271600|UMLS:C1849054|Orphanet:93284|MESH:C564797 owl:Class MONDO:0019667 biolink:NamedThing spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest. tmpaxzxjjyw_mondo_relaxed.owl OMIM:184100|ICD10:Q77.7|DOID:0080362|OMIM:313400|Orphanet:93284|SCTID:51952004|ICD9:756.9|OMIM:271600 owl:Class NCBITaxon:51025 biolink:NamedThing Oxyuroidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014310 biolink:NamedThing hereditary sclerosing poikiloderma with tendon and pulmonary involvement Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features. tmpaxzxjjyw_mondo_relaxed.owl hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome|POIKTMP syndrome|poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis|poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement|hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis|POIKTMP Orphanet:221043|GARD:0013218|OMIM:615704|ICD10:Q82.8|UMLS:C3810325 owl:Class MONDO:0042604 biolink:NamedThing Sandhaus-Ben-Ami syndrome tmpaxzxjjyw_mondo_relaxed.owl patella hypoplasia skeletal malformations|Sandhaus Ben-Ami syndrome MESH:C537233|GARD:0000154|UMLS:C2931451 owl:Class UBERON:0003328 biolink:NamedThing mesenchyme of footplate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004159 biolink:NamedThing pancreatic non-invasive mucinous cystadenocarcinoma A non-invasive malignant cystic epithelial neoplasm arising from the exocrine pancreas. It occurs almost exclusively in women. Small tumors are usually found incidentally. Larger tumors usually produce symptoms related to compression of the adjacent structures. It is characterized by the presence of columnar, mucin-producing epithelial cells which often form papillary projections with irregular branching and budding. There is cellular stratification, severe dysplasia, and high mitotic activity present. Complete surgical removal is usually associated with an excellent prognosis. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C41245|ICDO:8470/2|DOID:7237|UMLS:C1518874 owl:Class HP:0001279 biolink:NamedThing Syncope Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. tmpaxzxjjyw_mondo_relaxed.owl Fainting spell SNOMEDCT_US:272030005|UMLS:C0039070|SNOMEDCT_US:271594007|MSH:D013575|SNOMEDCT_US:309585006 peter 2008-02-25T10:37:00Z human_phenotype owl:Class HP:0011025 biolink:NamedThing Abnormal cardiovascular system physiology Abnormal functionality of the cardiovascular system. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of cardiovascular system physiology UMLS:C4023587 peter 2011-03-03T10:23:19Z human_phenotype owl:Class MONDO:0017964 biolink:NamedThing 46,XX disorder of sex development induced by exogenous maternal-derived androgen tmpaxzxjjyw_mondo_relaxed.owl 46,XX DSD induced by exogenous maternal-derived androgen ICD10:Q56.2|UMLS:CN227228|Orphanet:325099 owl:Class MONDO:0019608 biolink:NamedThing 46,XX disorder of sex development induced by maternal-derived androgen tmpaxzxjjyw_mondo_relaxed.owl 46,XX DSD induced by maternal-derived androgen Orphanet:91144|ICD10:Q56.2|UMLS:CN227662 owl:Class GO:0006974 biolink:NamedThing cellular response to DNA damage stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. tmpaxzxjjyw_mondo_relaxed.owl response to DNA damage stimulus|DNA damage response|cellular DNA damage response|response to genotoxic stress owl:Class GO:0033554 biolink:NamedThing cellular response to stress Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015532 biolink:NamedThing generalized eruptive histiocytosis tmpaxzxjjyw_mondo_relaxed.owl generalized eruptive histiocytoma UMLS:C0347404|Orphanet:157991|ICD10:D76.3|SCTID:110980006 owl:Class MONDO:0006170 biolink:NamedThing conjunctival disorder Any disorder of the conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl disease of conjunctiva|conjunctival disorder|conjunctiva disease or disorder|disorder of conjunctiva|conjunctiva disease|conjunctival disease|disease or disorder of conjunctiva EFO:1000203|DOID:4251|NCIT:C27605 owl:Class GO:0010720 biolink:NamedThing positive regulation of cell development Any process that increases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045597 biolink:NamedThing positive regulation of cell differentiation Any process that activates or increases the frequency, rate or extent of cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of cell differentiation|activation of cell differentiation|upregulation of cell differentiation|up regulation of cell differentiation|stimulation of cell differentiation owl:Class MONDO:0022799 biolink:NamedThing cold urticaria Cold urticaria is a condition that affects the skin. Signs and symptoms generally include reddish, itchy welts (hives) and/or swelling when skin is exposed to the cold (i.e. cold weather or swimming in cold water). This rash is usually apparent within 2-5 minutes after exposure and can last for 1-2 hours. The exact cause of cold urticaria is poorly understood in most cases. Rarely, it may be associated with an underlying blood condition or infectious disease. Treatment generally consists of patient education, avoiding exposures that may trigger a reaction, and/or medications. tmpaxzxjjyw_mondo_relaxed.owl primary idiopathic cold urticaria|cold contact urticaria|urticaria idiopathic cold GARD:0006131|SCTID:74774004|UMLS:C0221207|EFO:1001881 https://rarediseases.info.nih.gov/diseases/6131/cold-urticaria owl:Class MONDO:0005492 biolink:NamedThing urticaria A vascular reaction of the skin characterized by erythema and wheal formation due to localized increase of vascular permeability. The causative mechanism may be allergy, infection, or stress. tmpaxzxjjyw_mondo_relaxed.owl urticaria|hives|urticaria (disease)|Urticarias urticaria (disease) NCIT:C3432|ICD9:708.8|DOID:1555|HP:0001025|SCTID:126485001|MESH:D014581|EFO:0005531|ICD9:708|UMLS:C0042109|ICD10:L50|ICD9:708.9 owl:Class UBERON:0002120 biolink:NamedThing pronephros tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000402 biolink:NamedThing CNS interneuron tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:2000029 biolink:NamedThing central nervous system neuron Any neuron that is part of a central nervous system. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-25T01:17:43Z cell owl:Class UBERON:0003260 biolink:NamedThing endoderm of hindgut tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000490 biolink:NamedThing unilaminar epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016571 biolink:NamedThing macrocephaly-short stature-paraplegia syndrome Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults. tmpaxzxjjyw_mondo_relaxed.owl Volcke-Soekarman syndrome Orphanet:2427|SCTID:722033000|MESH:C537718 owl:Class MONDO:0017121 biolink:NamedThing syndrome with a Dandy-Walker malformation as major feature tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN202471|Orphanet:269546 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class HP:0100257 biolink:NamedThing Ectrodactyly A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. tmpaxzxjjyw_mondo_relaxed.owl Lobster claw hand|Cleft hand SNOMEDCT_US:81208006|UMLS:C0265554|SNOMEDCT_US:13624003|MSH:C574275 Hands and feet in one individual might be similarly affected or very diverse and the phenotype is very variable even within families. Penetrance is reduced and some idnividuals have been observed presenting only with unilateral smaller 2nd toe which may be overlooked till a much more severly affected family member is seen. doelkens 2010-07-15T03:56:58Z human_phenotype owl:Class HP:0002813 biolink:NamedThing Abnormality of limb bone morphology Any abnormality of bones of the arms or legs. tmpaxzxjjyw_mondo_relaxed.owl Abnormal shape of limb bone|Arm and/or leg bone differences|Limb abnormality UMLS:C4082761 human_phenotype owl:Class GO:0008211 biolink:NamedThing glucocorticoid metabolic process The chemical reactions and pathways involving glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects. tmpaxzxjjyw_mondo_relaxed.owl glucocorticosteroid metabolism|glucocorticoid metabolism|glucocorticosteroid metabolic process owl:Class MONDO:0020638 biolink:NamedThing superficial spreading melanoma A type of melanoma that typically occurs in light-skinned individuals ranging in age from young adults to the elderly. Risk factors include extensive sun exposure during childhood, a family history of melanoma, and the presence of dysplastic nevi. tmpaxzxjjyw_mondo_relaxed.owl superficial spreading melanoma of skin|superficial spreading malignant melanoma of skin|superficial spreading malignant skin melanoma|SSM|cutaneous superficial spreading melanoma|pagetoid melanoma|superficial spreading melanoma of the skin|superficial spreading cutaneous (skin) melanoma|superficial spreading melanoma|superficial spreading malignant melanoma of the skin ICDO:8743/3|SCTID:254730000|NCIT:C9152 owl:Class GO:1905652 biolink:NamedThing negative regulation of artery morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of artery morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl downregulation of artery morphogenesis|negative regulation of arterial morphogenesis|down regulation of artery morphogenesis|downregulation of arterial morphogenesis|down regulation of arteriogenesis|downregulation of arteriogenesis|inhibition of arteriogenesis|negative regulation of arteriogenesis|down regulation of arterial morphogenesis|down-regulation of arteriogenesis|inhibition of arterial morphogenesis|down-regulation of artery morphogenesis|down-regulation of arterial morphogenesis|inhibition of artery morphogenesis owl:Class MONDO:0018710 biolink:NamedThing megalencephaly-severe kyphoscoliosis-overgrowth syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:457359|OMIM:617011 owl:Class MONDO:0014652 biolink:NamedThing exudative vitreoretinopathy 6 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the ZNF408 gene. tmpaxzxjjyw_mondo_relaxed.owl EVR6|exudative vitreoretinopathy caused by mutation in ZNF408|ZNF408 exudative vitreoretinopathy|exudative vitreoretinopathy type 6|exudative vitreoretinopathy 6 DOID:0111410|UMLS:C4225316|Orphanet:891|OMIM:616468 owl:Class MONDO:0007322 biolink:NamedThing chondrodysplasia punctata, tibial-metacarpal type tmpaxzxjjyw_mondo_relaxed.owl chondrodysplasia punctata, tibia-metacarpal type|chondrodysplasia punctata, Mt type MESH:C562961|SCTID:254083002|ICD10:Q77.3|Orphanet:79346|OMIM:118651|ICD9:756.59 owl:Class MONDO:0007321 biolink:NamedThing autosomal dominant chondrodysplasia punctata Autosomal dominant form of chondrodysplasia punctata. tmpaxzxjjyw_mondo_relaxed.owl chondrodysplasia punctata, Sheffield type|chondrodysplasia punctata due to warfarin Teratogenicity|chondrodysplasia punctata due to vitamin K deficiency|chondrodysplasia punctata, autosomal dominant|chondrodysplasia punctata Sheffield type DOID:0060293|Orphanet:79344|OMIM:602497|OMIM:118650|MESH:C563248|GARD:0001298|ICD10:Q77.3|OMIM:118651 MONDO:0022728 https://rarediseases.info.nih.gov/diseases/1298/chondrodysplasia-punctata-sheffield-type owl:Class MONDO:0023066 biolink:NamedThing enchondromatosis dwarfism deafness tmpaxzxjjyw_mondo_relaxed.owl Wallis cremin Beighton syndrome GARD:0000294 https://rarediseases.info.nih.gov/diseases/294/enchondromatosis-dwarfism-deafness owl:Class UBERON:0012363 biolink:NamedThing thyroid follicle epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022650 biolink:NamedThing cardiomyopathy diabetes deafness tmpaxzxjjyw_mondo_relaxed.owl GARD:0001103 https://rarediseases.info.nih.gov/diseases/1103/cardiomyopathy-diabetes-deafness owl:Class MONDO:0034103 biolink:NamedThing infection-related hemolytic uremic syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:544482 owl:Class MONDO:0001549 biolink:NamedThing hemolytic-uremic syndrome Acute kidney injury associated with microangiopathic hemolytic anemia and thrombocytopenia. tmpaxzxjjyw_mondo_relaxed.owl haemolytic-uraemic syndrome|acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells')|HUS|hemolytic uremic syndrome OMIM:612922|ICD9:283.11|OMIM:612923|OMIM:612926|NCIT:C75545|Orphanet:544458|MESH:D006463|GARD:0006588|OMIMPS:235400|SCTID:111407006|Orphanet:2134|OMIM:235400|DOID:12554|OMIM:612925|UMLS:C0019061|ICD10:D59.3|OMIM:612924 owl:Class GO:0045939 biolink:NamedThing negative regulation of steroid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of steroid metabolic process|down regulation of steroid metabolic process|inhibition of steroid metabolic process|downregulation of steroid metabolic process|negative regulation of steroid metabolism owl:Class GO:0019218 biolink:NamedThing regulation of steroid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpaxzxjjyw_mondo_relaxed.owl regulation of steroid metabolism owl:Class MONDO:0020706 biolink:NamedThing Heberden's node Osteophytes that most commonly develop on the distal interphalangeal joints, often in the setting of osteoarthritis. tmpaxzxjjyw_mondo_relaxed.owl tuberculum arthriticum|Heberden's node SCTID:239869009|NCIT:C34671 owl:Class MONDO:0002181 biolink:NamedThing exostosis Non-neoplastic overgrowth of bone. tmpaxzxjjyw_mondo_relaxed.owl bone osteophyte|swimmer's exostosis|exostosis|bone spur|bony outgrowth|osteophyte|orbital exostosis SCTID:416189003|ICD10:M27.8|SCTID:235231000119100|NCIT:C3029|UMLS:C1956089|DOID:203|ICD9:726.91|UMLS:C1442903 Editor note: compare with osteophyte owl:Class MONDO:0003384 biolink:NamedThing uterine ligament clear cell adenocarcinoma A clear cell adenocarcinoma of the uterine ligament composed mainly of clear or hobnob cells. The clear cells are large, bizarre, and multinucleated. tmpaxzxjjyw_mondo_relaxed.owl uterine ligament clear cell adenocarcinoma UMLS:C1519867|DOID:5302|NCIT:C40139 owl:Class MONDO:0006135 biolink:NamedThing cervical clear cell adenocarcinoma A rare morphologic variant of cervical adenocarcinoma composed of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES). tmpaxzxjjyw_mondo_relaxed.owl cervical clear cell carcinoma|uterine cervix clear cell adenocarcinoma|clear cell adenocarcinoma of the cervix|clear cell carcinoma of uterine cervix|cervical clear cell adenocarcinoma|clear cell adenocarcinoma of the cervix uteri|cervix uteri clear cell adenocarcinoma|cervix clear cell carcinoma|uterine cervix clear cell carcinoma|clear cell adenocarcinoma of cervix uteri|clear cell carcinoma of cervix uteri|cervix clear cell adenocarcinoma|clear cell carcinoma of the uterine cervix|clear cell carcinoma of the cervix uteri|cervix uteri clear cell carcinoma|clear cell carcinoma of cervix|clear cell adenocarcinoma of cervix|clear cell adenocarcinoma of the uterine cervix|clear cell adenocarcinoma of uterine cervix|clear cell carcinoma of the cervix ONCOTREE:CECC|DOID:5303|EFO:1000163|NCIT:C6344|UMLS:C1332912 owl:Class MONDO:0025484 biolink:NamedThing simian acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs naturally in macaques infected with srv serotypes, experimentally in monkeys inoculated with srv or mason-pfizer monkey virus; (mpmv), or in monkeys infected with simian immunodeficiency virus. tmpaxzxjjyw_mondo_relaxed.owl Simian immunodeficiency virus monkey disease|Simian acquired immune deficiency syndrome|AIDSs, Simian|Simian acquired immuno deficiency syndrome|Simian immunodeficiency virus caused monkey disease|Simian AIDS|Simian acquired immuno-deficiency syndrome|Simian AIDSs|SAIDS|AIDS, Simian UMLS:C0080151|MESH:D016097 owl:Class MONDO:0025102 biolink:NamedThing monkey disease Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= ape diseases). tmpaxzxjjyw_mondo_relaxed.owl monkey disease|diseases, monkey|disease, monkey MESH:D008992 owl:Class UBERON:0005568 biolink:NamedThing rhombomere 1 roof plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005502 biolink:NamedThing rhombomere roof plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004520 biolink:NamedThing striated muscle tissue of prostate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001134 biolink:NamedThing skeletal muscle tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:272561 biolink:NamedThing Chlamydia trachomatis D/UW-3/CX tmpaxzxjjyw_mondo_relaxed.owl Chlamydia trachomatis str. D/UW-3/CX|Chlamydia trachomatis strain D/UW-3/CX GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:813 biolink:NamedThing Chlamydia trachomatis tmpaxzxjjyw_mondo_relaxed.owl Chlamydozoon trachomatis|Rickettsia trachomatis|Rickettsia trachomae GC_ID:11|PMID:8102247|PMID:10319462|PMID:8347519|PMID:10192388 ncbi_taxonomy owl:Class HP:0011013 biolink:NamedThing Abnormal circulating carbohydrate concentration A deviation from the normal concentration of a carbohydrate in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023599 An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them. peter 2011-02-21T09:47:27Z human_phenotype owl:Class HP:0032180 biolink:NamedThing Abnormal circulating metabolite concentration An abnormal level of an analyte measured in the blood. tmpaxzxjjyw_mondo_relaxed.owl 2019-01-12 13:45:59+00:00 peter human_phenotype owl:Class ENVO:01000952 biolink:NamedThing anthropisation A process during which a natural environmental system is altered by human action. tmpaxzxjjyw_mondo_relaxed.owl anthropization owl:Class ENVO:01001434 biolink:NamedThing anthropogenic ecosystem conversion process A process during which an ecosystem - natural or anthropised - is changed by the actions of humans. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014649 biolink:NamedThing intellectual disability, autosomal recessive 50 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal recessive type 50|mental retardation, autosomal recessive type 50|autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3|MRT50|mental retardation, autosomal recessive 50|EDC3 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 50 OMIM:616460 owl:Class MONDO:0007945 biolink:NamedThing mannose 6-phosphate receptor recognition defect, Lebanese type tmpaxzxjjyw_mondo_relaxed.owl phosphodiester glycoside deficiency|mannose 6-phosphate receptor recognition defect, Lebanese type UMLS:C1835134|MESH:C563601|OMIM:154570 owl:Class UBERON:0003565 biolink:NamedThing hindbrain dura mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002363 biolink:NamedThing dura mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010649 biolink:NamedThing isolated congenital megalocornea Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment characterized by bilateral enlargement of the corneal diameter (>12.5 mm) and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development, and secondary glaucoma. tmpaxzxjjyw_mondo_relaxed.owl MGC1|megalocornea|congenital anterior megalophthalmia|Mgcn|isolated congenital megalocornea SCTID:734026006|OMIM:309300|Orphanet:91489|GARD:0012648|ICD10:Q15.8 owl:Class MONDO:0009576 biolink:NamedThing megalocornea tmpaxzxjjyw_mondo_relaxed.owl megalocornea (disease)|anterior megalophthalmos|megalocornea megalocornea (disease) OMIM:249300|HP:0007660|DOID:0060305|MESH:C562829|SCTID:268158009|Orphanet:91489|OMIM:309300|HP:0000485 owl:Class MONDO:0001459 biolink:NamedThing radial neuropathy Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus. tmpaxzxjjyw_mondo_relaxed.owl radial nerve peripheral neuropathy|peripheral neuropathy of radial nerve SCTID:16644004|DOID:12171|MESH:D020425|UMLS:C0748226 owl:Class UBERON:0010062 biolink:NamedThing pharyngotympanic tube epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015813 biolink:NamedThing middle ear epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016017 biolink:NamedThing methimazole embryofetopathy Methimazole embryopathy is a teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia. tmpaxzxjjyw_mondo_relaxed.owl methimazole embryofetopathy|MMI/CMZ embryopathy|fetal methimazole syndrome|Methimazole/carbimazole embryopathy|MMI/CMZ embryofetopathy|Methimazole/carbimazole embryofetopathy|Methimazole antenatal exposure SCTID:724144006|ICD10:Q86.8|GARD:0003573|Orphanet:1923|UMLS:C4510379 https://rarediseases.info.nih.gov/diseases/3573/methimazole-antenatal-exposure owl:Class MONDO:0013385 biolink:NamedThing Treacher Collins syndrome 2 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene. tmpaxzxjjyw_mondo_relaxed.owl TCS2|TREACHER COLLINS syndrome 2|Treacher-Collins syndrome caused by mutation in POLR1D|Treacher Collins syndrome type 2|Treacher Collins syndrome 2|POLR1D Treacher-Collins syndrome OMIM:613717|UMLS:C3150983|Orphanet:861 owl:Class MONDO:0019266 biolink:NamedThing SAPHO syndrome SAPHO syndrome (acronym for Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis) is an auto-inflammatory disease, mainly characterized by the association of neutrophilic cutaneous involvement and chronic osteomyelitis. tmpaxzxjjyw_mondo_relaxed.owl synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome|PPHS|acquired hyperostosis syndrome|Pustulo-psoriatic hyperostotic Spondyloarthritis|synovitis, acne, Pustlosis, hyperostosis, and osteomyelitis|synovitis acne pustulosis hyperostosis osteitis|synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome|synovitis-acne-pustulosis-hyperostosis-osteitis syndrome Orphanet:793|SCTID:60684003|UMLS:C0263859|NCIT:C119049|GARD:0007606|ICD9:706.1|MedDRA:10051316|EFO:1001164|DOID:13677|ICD10:M86.3|MESH:D020083 https://rarediseases.info.nih.gov/diseases/7606/sapho-syndrome owl:Class MONDO:0017954 biolink:NamedThing pyogenic autoinflammatory syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204100|Orphanet:324927 owl:Class CL:0002054 biolink:NamedThing Fraction E immature B cell An immature B cell that is IgM-positive, CD45R-positive, CD43-low, CD25-negative, and CD127-negative. This cell type has also been described as being AA4-positive, IgM-positive, CD19-positive, CD43-low/negative, and HSA-positive. tmpaxzxjjyw_mondo_relaxed.owl Markers associated with mouse cells. These cells are also reportedly sIgD-negative. tmeehan 2010-04-28T03:13:47Z cell owl:Class CL:0000816 biolink:NamedThing immature B cell An immature B cell is a B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation. tmpaxzxjjyw_mondo_relaxed.owl immature B-cell|immature B-lymphocyte|immature B lymphocyte|newly formed B cell Immature B cells are also reportedly CD5-positive, CD10-positive, CD19-positive, CD20-positive, CD21-positive, CD22-positive, CD24-positive, CD25-negative, CD27-negative, CD34-negative, CD38-positive, CD40-positive, CD43-negative, CD45-positive, CD48-positive, CD53-positive, CD79a-positive, CD80-negative, CD81-positive, CD86-negative, CD95-negative, CD127-negative, CD138-negative, CD185-positive, CD196-positive, MHCII/HLA-DR-positive, RAG-positive, TdT-negative, Vpre-B-negative, and preBCR-negative. Transcription factors expressed: Pax5-positive. cell owl:Class MONDO:0013847 biolink:NamedThing chromosome 16p11.2 duplication syndrome Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life. tmpaxzxjjyw_mondo_relaxed.owl 16p11.2 duplication syndrome|proximal trisomy 16p11.2|chromosome 16p11.2 duplication syndrome|proximal 16p11.2 microduplication syndrome|16p11.2 microduplication|proximal dup(16)(p11.2)|autism, susceptibility to, 14B|AUTS14B|16p11.2 duplication|susceptibility to autism, 14B OMIM:614671|GARD:0012388|Orphanet:370079|SCTID:765142003|DOID:0060430|UMLS:C3553407|ICD10:Q92.3 owl:Class CL:0000562 biolink:NamedThing nucleate erythrocyte An erythrocyte having a nucleus. tmpaxzxjjyw_mondo_relaxed.owl RBC|red blood cell cell owl:Class MONDO:0013759 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 8 An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer. tmpaxzxjjyw_mondo_relaxed.owl susceptibility to cutaneous malignant melanoma 8|melanoma and renal cell carcinoma, susceptibility to|melanoma, cutaneous malignant, susceptibility to, 8|CMM8|melanoma, cutaneous malignant, susceptibility to, type 8|MITF-related melanoma and renal cell carcinoma predisposition syndrome OMIM:614456|Orphanet:293822 owl:Class GO:0009087 biolink:NamedThing methionine catabolic process The chemical reactions and pathways resulting in the breakdown of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. tmpaxzxjjyw_mondo_relaxed.owl methionine degradation|methionine breakdown|methionine catabolism owl:Class GO:0009063 biolink:NamedThing cellular amino acid catabolic process The chemical reactions and pathways resulting in the breakdown of amino acids, organic acids containing one or more amino substituents. tmpaxzxjjyw_mondo_relaxed.owl cellular amino acid degradation|cellular amino acid catabolism|cellular amino acid breakdown|amino acid catabolic process owl:Class HGNC:30800 biolink:NamedThing TMIE tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006530 biolink:NamedThing seminal fluid tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036337 biolink:NamedThing wall of appendix tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000060 biolink:NamedThing anatomical wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:26819 biolink:NamedThing sulfuric ester An ester of an alcohol and sulfuric acid. tmpaxzxjjyw_mondo_relaxed.owl sulfate ester|sulfuric acid ester|sulfuric acid esters owl:Class CHEBI:37826 biolink:NamedThing sulfuric acid derivative tmpaxzxjjyw_mondo_relaxed.owl sulfuric acid derivatives|sulfuric acid derivative owl:Class CL:1000362 biolink:NamedThing transitional myocyte of interventricular septum A transitional myocyte that is part of the interventricular septum. tmpaxzxjjyw_mondo_relaxed.owl FMA:263154 cell owl:Class GO:0032386 biolink:NamedThing regulation of intracellular transport Any process that modulates the frequency, rate or extent of the directed movement of substances within cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051049 biolink:NamedThing regulation of transport Any process that modulates the frequency, rate or extent of the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:28344 biolink:NamedThing Porcine reproductive and respiratory syndrome virus tmpaxzxjjyw_mondo_relaxed.owl porcine reproductive and respiratory syndrome virus, PRRSV|PRRSV|porcine reproductive and respiratory syndrome virus PRRSV|Porcine respiratory and reproductive syndrome virus|Porcine reproductive and respiratory syndrome virus (PRRSV) GC_ID:1 NCBITaxon:70172|NCBITaxon:12796 ncbi_taxonomy owl:Class NCBITaxon:325675 biolink:NamedThing unclassified Arteriviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:46919 biolink:NamedThing Whitewater Arroyo mammarenavirus tmpaxzxjjyw_mondo_relaxed.owl Whitewater Arroyo virus GC_ID:1 ncbi_taxonomy owl:Class PO:0025023 biolink:NamedThing collective phyllome structure A collective plant organ structure (PO:0025007) that consists of two or more phyllomes (PO:0006001) originating from the same node or from one or more adjacent nodes with compressed shoot internodes (PO:0005005). tmpaxzxjjyw_mondo_relaxed.owl whorl (narrow)|phyllome whorl (related)|cycle (broad)|葉的器官が集まった構造 (Japanese, exact)|verticil (broad)|floral whorl (narrow)|estructura colectiva del filoma (Spanish, exact) PO_GIT:99|PO_GIT:90 Laurel_Cooper 2010-04-28T11:04:34Z PO:0008033 plant_anatomy owl:Class PO:0025007 biolink:NamedThing collective plant organ structure A collective plant structure (PO:0025497) that is a proper part of a whole plant (PO:0000003), and is composed of two or more adjacent plant organs (PO:0009008) and the associated portions of plant tissue (PO:0009007). tmpaxzxjjyw_mondo_relaxed.owl 集合植物器官構造 (Japanese, exact)|estructura vegetal colectiva de órgano (Spanish, exact) PO_GIT:63 Organs can be of the same type or different types. Examples include flower (PO:0009046), perianth (PO:0009058), and inflorescence (PO:0009049). See also collective organ part structure (PO:0025269), for plant structures composed of parts of multiple organs, but no complete plant organs. This was formerly named collective plant structure. rwalls 2010-02-09T04:12:11Z plant_anatomy owl:Class MONDO:0023194 biolink:NamedThing frints de Smet Fabry Fryns syndrome tmpaxzxjjyw_mondo_relaxed.owl Symbrachydactyly of the hand and foot MESH:C538062|GARD:0001680 https://rarediseases.info.nih.gov/diseases/1680/frints-de-smet-fabry-fryns-syndrome owl:Class UBERON:0004415 biolink:NamedThing proximal epiphysis of metatarsal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004389 biolink:NamedThing epiphysis of metatarsal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000224 biolink:NamedThing peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity Catalysis of the reaction: 4-N-(N-acetyl-D-glucosaminyl)-protein + H2O = N-acetyl-beta-D-glucosaminylamine + peptide L-aspartate. This reaction is the hydrolysis of an N4-(acetyl-beta-D-glucosaminyl)asparagine residue in which the N-acetyl-D-glucosamine residue may be further glycosylated, to yield a (substituted) N-acetyl-beta-D-glucosaminylamine and the peptide containing an aspartic residue. tmpaxzxjjyw_mondo_relaxed.owl N-linked-glycopeptide-(N-acetyl-beta-D-glucosaminyl)-L-asparagine amidohydrolase activity|glycopeptide N-glycosidase activity|jack-bean glycopeptidase|PNGase|N-oligosaccharide glycopeptidase activity|glycopeptidase activity|N-glycanase activity|PNGase A|peptide:N-glycanase|PNGase F owl:Class GO:1905213 biolink:NamedThing negative regulation of mitotic chromosome condensation Any process that stops, prevents or reduces the frequency, rate or extent of mitotic chromosome condensation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020282 biolink:NamedThing metabolic disease with macular cherry-red spot tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN207085|Orphanet:98714 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class GO:0005262 biolink:NamedThing calcium channel activity Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005261 biolink:NamedThing cation channel activity Enables the energy-independent passage of cations across a lipid bilayer down a concentration gradient. tmpaxzxjjyw_mondo_relaxed.owl non-selective cation channel activity|cation diffusion facilitator activity owl:Class NCBITaxon:7157 biolink:NamedThing Culicidae tmpaxzxjjyw_mondo_relaxed.owl mosquitos GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:41827 biolink:NamedThing Culicoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023093 biolink:NamedThing exertional headache tmpaxzxjjyw_mondo_relaxed.owl primary headache associated with sexual activity|primary Exertional headache GARD:0010800 https://rarediseases.info.nih.gov/diseases/10800/exertional-headache owl:Class MONDO:0021146 biolink:NamedThing headache disorder Various conditions with the symptom of headache. Headache disorders are classified into major groups, such as primary headache disorders (based on characteristics of their headache symptoms) and secondary headache disorders (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) tmpaxzxjjyw_mondo_relaxed.owl headache, chronic daily|headaches, intractable|headaches, chronic daily|headache syndrome|cephalgia syndromes|chronic daily headache|chronic headache|headache syndromes|daily headaches, chronic|chronic headaches|headache, chronic|cephalgia syndrome|intractable headaches|daily headache, chronic|headaches, chronic|headache, intractable|intractable headache|syndrome, headache|chronic daily headaches|headache disorder SCTID:230461009|MESH:D020773 owl:Class MONDO:0024861 biolink:NamedThing mixed teratoma and seminoma tmpaxzxjjyw_mondo_relaxed.owl mixed teratoma and seminoma NCIT:C9010 owl:Class MONDO:0015864 biolink:NamedThing mixed germ cell tumor A malignant germ cell tumor characterized by the presence of at least two different germ cell components. The different germ cell components include choriocarcinoma, embryonal carcinoma, yolk sac tumor, teratoma, and seminoma. It occurs in the ovary, testis, and extragonadal sites including central nervous system and mediastinum. tmpaxzxjjyw_mondo_relaxed.owl combined germ cell neoplasm|mixed germ cell tumour|combined germ cell tumor|mixed germ cell cancer|mixed germ cell neoplasm|mixed germ cell tumor UMLS:C0334524|Orphanet:180234|NCIT:C9010|NCIT:C4290|ICDO:9085/3|DOID:3306 owl:Class MONDO:0007030 biolink:NamedThing autosomal dominant Aarskog syndrome tmpaxzxjjyw_mondo_relaxed.owl Aarskog syndrome, autosomal dominant|Aarskog syndrome|Aarskog-Scott syndrome|faciogenital dysplasia Orphanet:915|MESH:C535331|SCTID:14921002|OMIM:100050|DOID:6683|ICD10:Q87.1 We place the DO class here as it is explicitly AD, but it's not clear if the intent is for the DO class to be equivalent to the classic X-linked form (the DO synonyms suggest this is the case) owl:Class GO:0030072 biolink:NamedThing peptide hormone secretion The regulated release of a peptide hormone from a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002790 biolink:NamedThing peptide secretion The controlled release of a peptide from a cell or a tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030339 biolink:NamedThing microcephaly 28, primary, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl microcephaly 28, primary, autosomal recessive|MCPH28 OMIM:619453 owl:Class MONDO:0032888 biolink:NamedThing neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES|NEDBAVC OMIM:618731 owl:Class GO:0006575 biolink:NamedThing cellular modified amino acid metabolic process The chemical reactions and pathways involving compounds derived from amino acids, organic acids containing one or more amino substituents. tmpaxzxjjyw_mondo_relaxed.owl modified amino acid metabolism|cellular modified amino acid metabolism|cellular amino acid derivative metabolic process|cellular amino acid derivative metabolism|amino acid derivative metabolic process|modified amino acid metabolic process owl:Class MONDO:0004905 biolink:NamedThing intestinal disaccharidase deficiency Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age. tmpaxzxjjyw_mondo_relaxed.owl intestinal disaccharidase deficiency and disaccharide malabsorption|intestinal disaccharide deficiency and disaccharide malabsorption SCTID:22169002|NCIT:C34731|ICD9:271.3|DOID:9868|EFO:1000060 MONDO:0006062 owl:Class NCBITaxon:6685 biolink:NamedThing Penaeidae tmpaxzxjjyw_mondo_relaxed.owl penaeid shrimps GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:111520 biolink:NamedThing Penaeoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0045017 biolink:NamedThing cholesterol biosynthetic process disease A disease that has its basis in the disruption of cholesterol biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of cholesterol synthesis|disorder of cholesterol biosynthetic process|cholesterol synthesis disease SCTID:238036004|UMLS:C0342829 owl:Class MONDO:0045008 biolink:NamedThing cholesterol metabolism disease A disease that has its basis in the disruption of cholesterol metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of cholesterol metabolism|cholesterol metabolism disease|cholesterol metabolic process disease|disorder of cholesterol metabolic process UMLS:C0342877|SCTID:123963007 Examples: disorder of cholesterol catabolism (disorder), disorder of cholesterol synthesis (disorder) owl:Class MONDO:0018825 biolink:NamedThing PYCR2-related microcephaly-progressive leukoencephalopathy PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:481152 owl:Class HGNC:9726 biolink:NamedThing PYGM tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000541 biolink:NamedThing melanoblast A cell that originates from the neural crest and differentiates into a pigment cell. tmpaxzxjjyw_mondo_relaxed.owl BTO:0003217|FMA:83377 Derived from UBERON:0002342 neural crest. cell owl:Class CL:0011026 biolink:NamedThing progenitor cell A precursor cell that has a tendency to differentiate into a specific type of cell. They are descendants of stem cells, only they are more constrained in their differentiation potential or capacity for self-renewal, and are often more limited in both senses. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013509 biolink:NamedThing intellectual disability, autosomal dominant 6 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant mental retardation 6|mental retardation, autosomal dominant 6|GRIN2B autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 6, with or without seizures|intellectual disability, autosomal dominant 6|autosomal dominant intellectual disability 6|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B|autosomal dominant non-syndromic intellectual disability 6|mental retardation, autosomal dominant 6, with or without seizures|MRD6|intellectual disability, autosomal dominant type 6|mental retardation, autosomal dominant type 6 OMIM:613970|DOID:0070036|UMLS:C3151411 owl:Class CHEBI:15377 biolink:NamedThing water An oxygen hydride consisting of an oxygen atom that is covalently bonded to two hydrogen atoms. tmpaxzxjjyw_mondo_relaxed.owl dihydrogen oxide|H2O|dihydridooxygen|Water|aqua|acqua|oxidane|eau|BOUND WATER|HOH|[OH2]|agua|hydrogen hydroxide|WATER|Wasser|water owl:Class CHEBI:52625 biolink:NamedThing inorganic hydroxy compound tmpaxzxjjyw_mondo_relaxed.owl inorganic hydroxides owl:Class MONDO:0012915 biolink:NamedThing chromosome 1q21.1 duplication syndrome Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms, while others may have features such as a large head size (macrocephaly); mild to moderate developmental delay and learning difficulties; autism or autistic-like behavior; heart problems; seizures; and/or and distinctive facial features. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent. Treatment depends on the signs and symptoms present in each individual. tmpaxzxjjyw_mondo_relaxed.owl 1q21.1 microduplication syndrome|dup(1)(q21.1)|trisomy 1q21.1|chromosome 1q21.1 duplication syndrome GARD:0010591|MESH:C567290|DOID:0060435|OMIM:612475|UMLS:C2675891|ICD10:Q92.3|Orphanet:250994 https://rarediseases.info.nih.gov/diseases/10591/chromosome-1q211-duplication-syndrome owl:Class MONDO:0016952 biolink:NamedThing partial duplication of the long arm of chromosome 1 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy 1q|partial duplication of the long arm of chromosome type 1|partial duplication of chromosome 1q|partial trisomy of chromosome 1q|1q duplications|partial trisomy of the long arm of chromosome 1 UMLS:C0795800|GARD:0010831|NCIT:C36521|Orphanet:262833 owl:Class FOODON:03400352 biolink:NamedThing international agency food product type Renamed from *PRODUCT TYPE, CODEX ALIMENTARIUS* in LanguaL 2008. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0352 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org owl:Class FOODON:03400361 biolink:NamedThing agency food product type An agency food product type is a class of food product defined by an agency or consortium. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0361 This class is designed to hold 3rd party food classification schemes which are being mapped to FoodOn classes using the 'has member' relation. The two hierarchies are not melded into a subclass polyhierarchy because of possible logical inconsistencies in the agency schemes. The hierarchies of agency schemes are as true to their agency representation as possible. http://langual.org owl:Class GO:0009987 biolink:NamedThing cellular process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. tmpaxzxjjyw_mondo_relaxed.owl cell physiology|single-organism cellular process|cellular physiological process|cell growth and/or maintenance owl:Class MONDO:0004313 biolink:NamedThing gasserian ganglion meningioma A meningioma that affects the trigeminal ganglion. tmpaxzxjjyw_mondo_relaxed.owl meningioma (disease) of gasserian ganglion|Gasserian meningioma|meningioma of Gasserian ganglion|gasserian ganglion meningioma (disease)|meningioma of the Gasserian ganglion NCIT:C6779|DOID:7635|UMLS:C1333760 owl:Class MONDO:0010857 biolink:NamedThing semantic dementia Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. tmpaxzxjjyw_mondo_relaxed.owl frontotemporal lobe dementia|frontotemporal dementia with Parkinsonism|Pallidopontonigral Degeneration|Pick Complex|frontotemporal dementia|multiple system tauopathy with presenile dementia|Ftdp17|disinhibition-dementia-Parkinsonism-amyotrophy Complex|semantic primary progressive aphasia|Wilhelmsen-Lynch disease|FTD|semantic variant PPA|frontotemporal lobar Degeneration with Tau inclusions|Ftld with Tau inclusions|dementia, frontotemporal, with Parkinsonism Orphanet:282|GARD:0010792|UMLS:C0338451|ICD10:G31.0|OMIM:600274|Orphanet:100069 owl:Class MONDO:0017160 biolink:NamedThing behavioral variant of frontotemporal dementia Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. tmpaxzxjjyw_mondo_relaxed.owl bv-FTD OMIM:616437|OMIM:600274|ICD10:G31.0|SCTID:716994006|UMLS:C4011788|Orphanet:275864|OMIM:600795 owl:Class MONDO:0010196 biolink:NamedThing Werner syndrome Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders. tmpaxzxjjyw_mondo_relaxed.owl Werner's syndrome|Werner syndrome|WRN|adult progeria|adult premature ageing syndrome|WS UMLS:C0043119|GARD:0007885|ICD9:259.8|OMIM:277700|DOID:5688|MedDRA:10049429|MESH:D014898|Orphanet:902|SCTID:51626007|ICD10:E34.8|NCIT:C3447 owl:Class UBERON:0004406 biolink:NamedThing distal epiphysis of femur tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004384 biolink:NamedThing epiphysis of femur tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013779 biolink:NamedThing Wiskott-Aldrich syndrome 2 Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene. tmpaxzxjjyw_mondo_relaxed.owl Wiskott-Aldrich syndrome caused by mutation in WIPF1|Wipf1 deficiency|WIPF1 Wiskott-Aldrich syndrome|Wiskott-Aldrich syndrome type 2|WAS2|Wiskott-Aldrich syndrome 2 OMIM:614493|Orphanet:906|OMIM:277970|UMLS:C3281001 owl:Class MONDO:0001028 biolink:NamedThing acute pericementitis An acute inflammatory process that affects the tissues that surround and support the teeth. tmpaxzxjjyw_mondo_relaxed.owl periodontitis, acute|acute periodontitis UMLS:C0001342|NCIT:C34354|DOID:10423|ICD9:523.3|ICD9:523.33|SCTID:21638000 owl:Class MONDO:0002519 biolink:NamedThing anus disorder A non-neoplastic or neoplastic disorder that affects the anal canal or anal margin. Representative examples of non-neoplastic disorders include hemorrhoids and anal ulcer. Representative examples of neoplastic disorders include carcinoma, lymphoma, and melanoma. tmpaxzxjjyw_mondo_relaxed.owl anal disease|nontraumatic tear of anus|anus disease or disorder|disorder of anal region|anal fissure and fistula|fissure in ano|disease of anus|anal ulcer|anus disease|disorder of anus|anal disorder|solitary anal ulcer|anal fissure|disease or disorder of anus|Ulcer of anus UMLS:C1301262|UMLS:C0003462|DOID:3128|UMLS:C0016167|MESH:D001004|NCIT:C26695|SCTID:32110003 owl:Class MONDO:0002426 biolink:NamedThing lung sarcoma A malignant mesenchymal neoplasm that arises from the lung. Representative examples include Kaposi sarcoma, leiomyosarcoma, and synovial sarcoma. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of the lung|sarcoma of lung|lung sarcoma|pulmonary sarcoma DOID:2784|UMLS:C0598790|NCIT:C4860 owl:Class MONDO:0015567 biolink:NamedThing cataract-glaucoma syndrome Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years. tmpaxzxjjyw_mondo_relaxed.owl cataract - glaucoma GARD:0001160|Orphanet:162|UMLS:CN199931|ICD10:Q12.0|SCTID:718851007 https://rarediseases.info.nih.gov/diseases/1160/cataract-glaucoma owl:Class UBERON:0010507 biolink:NamedThing layer of dura mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004923 biolink:NamedThing organ component layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:449 biolink:NamedThing ALX3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010951 biolink:NamedThing negative regulation of endopeptidase activity Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000851 biolink:NamedThing positive regulation of glucocorticoid secretion Any process that activates or increases the frequency, rate or extent of glucocorticoid secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000849 biolink:NamedThing regulation of glucocorticoid secretion Any process that modulates the frequency, rate or extent of glucocorticoid secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0004370 biolink:NamedThing Abnormality of temperature regulation An abnormality of temperature homeostasis. tmpaxzxjjyw_mondo_relaxed.owl Poor temperature regulation|Abnormality of temperature regulation|Body temperature changes MSH:D001832|UMLS:C0005904|UMLS:C1832160 peter 2008-03-18T06:34:00Z human_phenotype owl:Class HP:0012337 biolink:NamedThing Abnormal homeostasis An anomaly in the processes involved in the maintenance of an internal equilibrium. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4022950|MP:0001764 peter 2013-09-13T09:23:23Z human_phenotype owl:Class MONDO:0001749 biolink:NamedThing cortical senile cataract A senile cataract that involves the lens cortex. tmpaxzxjjyw_mondo_relaxed.owl lens cortex senile cataract|senile cataract of lens cortex|cortical senile cataract UMLS:C0154980|ICD9:366.15|DOID:13574|SCTID:78875003 owl:Class MONDO:0045051 biolink:NamedThing cortical cataract A cataract (disease) that involves the lens cortex. tmpaxzxjjyw_mondo_relaxed.owl cataract (disease) of lens cortex|lens cortex cataract (disease) ICD9:366.03|SCTID:193576003 owl:Class HGNC:30922 biolink:NamedThing LINS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004363 biolink:NamedThing adult spinal cord glioblastoma A rare spinal tumor which is highly malignant and tends to be locally invasive of surrounding neural tissue. The tumor also tends to spread throughout the neuroaxis and is often rapidly progressive. Histologically the tumors are highly cellular with nuclear and cellular pleomorphism, endothelial proliferation, mitotic figures, and, often, necrosis. This tumor has a relatively poor prognosis. Clinical features may include pain followed by rapidly progressive neurologic deficits such as extremity weakness, sensory changes, spasticity, and incontinence. (From Innocenzi et al., Clin Neurol Neurosurg 1997 Feb;99(1):1-5) tmpaxzxjjyw_mondo_relaxed.owl glioblastoma multiforme of spinal cord|adult spinal cord glioblastoma multiforme|adult spinal cord glioblastoma NCIT:C27183|UMLS:C0559185|SCTID:276829003|DOID:7806 owl:Class MONDO:0020690 biolink:NamedThing adult glioblastoma tmpaxzxjjyw_mondo_relaxed.owl grade IV adult astrocytic neoplasm|glioblastoma|adult glioblastoma|grade IV adult astrocytic tumor|adult glioblastoma multiforme NCIT:C9094 owl:Class MONDO:0008678 biolink:NamedThing Williams syndrome Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity) tmpaxzxjjyw_mondo_relaxed.owl WMS|WBS|Williams syndrome|Williams-Beuren syndrome|chromosome 7Q11.23 deletion syndrome, 1.5- to 1.8-Mb|Williams-Beuren syndrome (WBS)|monosomy 7q11.23|Fanconi Schlesinger syndrome|deletion 7q11.23 MedDRA:10049644|ICD9:759.89|NCIT:C85232|Orphanet:904|ICD10:Q87.8|MESH:D018980|GARD:0007891|SCTID:63247009|UMLS:C0175702|OMIM:194050|DOID:1928 owl:Class GO:1904253 biolink:NamedThing positive regulation of bile acid metabolic process Any process that activates or increases the frequency, rate or extent of bile acid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl activation of bile acid metabolic process|upregulation of bile acid metabolism|up regulation of bile acid metabolism|up regulation of bile acid metabolic process|up-regulation of bile acid metabolism|positive regulation of bile acid metabolism|activation of bile acid metabolism|upregulation of bile acid metabolic process|up-regulation of bile acid metabolic process owl:Class HP:0004323 biolink:NamedThing Abnormality of body weight An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of body weight|Abnormality of habitus UMLS:C0878621|UMLS:C4025357 peter 2008-02-27T03:21:00Z HP:0010718 human_phenotype owl:Class MONDO:0011810 biolink:NamedThing horizontal gaze palsy with progressive scoliosis Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla. tmpaxzxjjyw_mondo_relaxed.owl progressive external ophthalmoplegia and scoliosis|HGPPS|ophthalmoplegia, progressive external, and scoliosis|gaze palsy, familial horizontal, with progressive scoliosis|gaze palsy, horizontal, with progressive scoliosis UMLS:C1846496|ICD10:H49.4|SCTID:702381007|ICD9:737.43|MESH:C564593|OMIMPS:607313|Orphanet:2744|GARD:0012682 https://rarediseases.info.nih.gov/diseases/12682/horizontal-gaze-palsy-with-progressive-scoliosis owl:Class MONDO:0020253 biolink:NamedThing syndrome with a symptomatic strabismus tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98683|UMLS:CN207072 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class HGNC:29250 biolink:NamedThing WDR35 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100310 biolink:NamedThing hereditary cerebellar ataxia Cerebellar ataxia that is transmitted from parent to child. tmpaxzxjjyw_mondo_relaxed.owl hereditary cerebellar ataxia|cerebellar hereditary ataxia NCIT:C140268 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007235 biolink:NamedThing branchiooculofacial syndrome Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth. tmpaxzxjjyw_mondo_relaxed.owl branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging|BOFS syndrome|lip Pseudocleft-Hemangiomatous branchial cyst syndrome|hemangiomatous branchial clefts-Lip Pseudocleft syndrome|Bof syndrome|BOFS|branchio-oculo-facial syndrome|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging|branchiooculofacial syndrome ICD10:Q18.8|SCTID:449821007|OMIM:113620|Orphanet:1297|GARD:0003212|DOID:0050691|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/3212/branchiooculofacial-syndrome owl:Class CHEBI:26979 biolink:NamedThing organic heterotricyclic compound An organic tricyclic compound in which at least one of the rings of the tricyclic skeleton contains one or more heteroatoms. tmpaxzxjjyw_mondo_relaxed.owl heterotricyclic compounds|organic heterotricyclic compounds owl:Class CHEBI:51959 biolink:NamedThing organic tricyclic compound tmpaxzxjjyw_mondo_relaxed.owl organic tricyclic compounds owl:Class MONDO:0012104 biolink:NamedThing acquired partial lipodystrophy A lipodystrophy characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs. tmpaxzxjjyw_mondo_relaxed.owl APLD, susceptibility to|APLD|Barraquer-Simons syndrome|lipodystrophy partial acquired|lipodystrophy, partial, progressive|susceptibility to partial acquired lipodystrophy|progressive cephalothoracic lipodystrophy|lipodystrophy, partial, acquired, susceptibility to|lipodystrophy cephalothoracic type|lipodystophy partial progressive|lipodystrophy, cephalothoracic type|acquired partial lipodystrophy|partial acquired lipodystrophy SCTID:75659004|UMLS:C0220989|GARD:0010509|Orphanet:79087|MESH:C562448|ICD10:E88.1|NCIT:C129723 owl:Class MONDO:0019256 biolink:NamedThing sterol metabolism disorder An acquired metabolic disease that is has its basis in the disruption of sterol metabolic process. tmpaxzxjjyw_mondo_relaxed.owl inborn error of sterol metabolic process|rare inborn error of sterol metabolic process|inborn sterol metabolic process disorder Orphanet:79226|UMLS:CN227607 owl:Class MONDO:0000310 biolink:NamedThing Alkhurma hemorrhagic fever A disease caused by infection with Alkhumra hemorrhagic fever virus. tmpaxzxjjyw_mondo_relaxed.owl Alkhumra hemorrhagic fever virus caused disease or disorder|Alkhumra hemorrhagic fever virus infectious disease|Alkhumra hemorrhagic fever virus disease or disorder DOID:0050308 owl:Class MONDO:0017881 biolink:NamedThing Kyasanur forest disease Kyasanura forest disease (KFD), caused by the KFD virus, is an arbovirus characterized by an initial fever, headache and myalgia that can progress to a hemorrhagic disease and that in some cases is followed by a second phase characterized by neurological manifestations. tmpaxzxjjyw_mondo_relaxed.owl Kyasanur forest disease virus infectious disease|KFD virus|monkey fever|KFD|monkey disease|Kyasanur forest disease virus caused disease or disorder|Kyasanur forest disease virus disease or disorder|Kyasanur hemorrhagic fever MESH:D007733|MedDRA:10023505|UMLS:C0022810|ICD9:065.2|SCTID:23097003|ICD10:A98.2|DOID:11320|GARD:0008257|Orphanet:319254 https://rarediseases.info.nih.gov/diseases/8257/kyasanur-forest-disease owl:Class NCBITaxon:33743 biolink:NamedThing Kyasanur Forest disease virus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100338 biolink:NamedThing urinary tract infection tmpaxzxjjyw_mondo_relaxed.owl urinary tract infection (disease) urinary tract infection (disease) owl:Class MONDO:0013966 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 4 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene. tmpaxzxjjyw_mondo_relaxed.owl catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1|CALM1 catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia type 4|ventricular tachycardia, catecholaminergic polymorphic, type 4|CPVT4|CVPT4|ventricular tachycardia, catecholaminergic polymorphic, 4|catecholaminergic polymorphic ventricular tachycardia 4 UMLS:C3554047|ICD10:I47.2|DOID:0060678|Orphanet:3286|OMIM:614916 owl:Class MONDO:0043364 biolink:NamedThing eosinophil peroxidase deficiency A rare abnormality of eosinophil granulocytes characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix. tmpaxzxjjyw_mondo_relaxed.owl Presentey anomaly|presentey anomaly|eosinophil peroxidase deficiency|eosinophil peroxidase deficiency, partial|EPXD|eosinophil peroxidase deficiency, Partial|peroxidase and phospholipid deficiency in eosinophils MESH:C564893|SCTID:711160007|UMLS:C1850000|OMIM:261500|GARD:0012361 owl:Class MONDO:0013986 biolink:NamedThing combined oxidative phosphorylation defect type 14 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency caused by mutation in FARS2|combined oxidative phosphorylation deficiency type 14|FARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 14|COXPD14 UMLS:C3554168|ICD10:E88.8|OMIM:614946|Orphanet:319519|DOID:0111477 owl:Class GO:0016410 biolink:NamedThing N-acyltransferase activity Catalysis of the transfer of an acyl group to a nitrogen atom on the acceptor molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C15497 biolink:NamedThing Progesterone Receptor Negative tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C165233 biolink:NamedThing Expression Negative tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016652 biolink:NamedThing 2q31.1 microdeletion syndrome 2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects. tmpaxzxjjyw_mondo_relaxed.owl monosomy 2q31.1|Del(2)(q31.1) Orphanet:251014|UMLS:C4274647|UMLS:CN201880|SCTID:716387004|ICD10:Q93.5 owl:Class HGNC:427 biolink:NamedThing ALK tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1990748 biolink:NamedThing cellular detoxification Any process carried out at the cellular level that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010568 biolink:NamedThing Aicardi syndrome Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females. tmpaxzxjjyw_mondo_relaxed.owl corpus callosum, agenesis of, with chorioretinal Abnormality|corpus callosum agenesis of with chorioretinal abnormality|AIC|agenesis of corpus callosum with chorioretinal abnormality|Aicardi syndrome MESH:D058540|ICD10:Q04.0|MedDRA:10054935|UMLS:C0175713|DOID:8461|OMIM:304050|SCTID:80651009|NCIT:C35256|Orphanet:50|GARD:0005764 https://rarediseases.info.nih.gov/diseases/5764/aicardi-syndrome owl:Class UBERON:0002385 biolink:NamedThing muscle tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000479 biolink:NamedThing tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000039 biolink:NamedThing germ line cell A cell that is within the developmental lineage of gametes and is able to pass along its genetic material to offspring. tmpaxzxjjyw_mondo_relaxed.owl Originally this term had some plant germ line cell children. cell owl:Class MONDO:0007048 biolink:NamedThing acrokeratosis verruciformis A rare genetic skin keratinization disorder with an autosomal dominant mode of inheritance. It is characterized by numerous flesh-colored warty papules on the back of the hands, medial aspect of the feet, knees, and elbows. tmpaxzxjjyw_mondo_relaxed.owl Hopf disease|acrokeratosis verruciformis|acrokeratosis verruciformis of Hopf|AKV|AKV of Hopf DOID:0050606|ICD10:Q82.8|NCIT:C27519|MedDRA:10069445|UMLS:C0265971|SCTID:400085009|EFO:1000666|Orphanet:79151|ICD9:757.39|OMIM:101900 owl:Class MONDO:0006566 biolink:NamedThing keratosis A skin disorder consisting of hypertrophy of the stratum corneum of the skin. tmpaxzxjjyw_mondo_relaxed.owl keratoderma DOID:161|SCTID:254666005|UMLS:C0022593|MESH:D007642|NCIT:C34747|NCIT:C34745|EFO:1000720 owl:Class MONDO:0011787 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2I Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related|limb-girdle muscular dystrophy due to FKRP deficiency|FKRP autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related|LGMD-FKRP related|muscular dystrophy, limb-girdle, type 2I|muscular dystrophy limb-girdle type 2I|limb-girdle muscular dystrophy type 2I|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5|MDDGC5|muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP|LGMD2I|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5 ICD10:G71.0|OMIM:607155|GARD:0012533|NCIT:C126739|Orphanet:34515|MESH:C564612|DOID:0110299|SCTID:718180000 owl:Class MONDO:0016156 biolink:NamedThing qualitative or quantitative defects of FKRP tmpaxzxjjyw_mondo_relaxed.owl Orphanet:207119 owl:Class MONDO:0018151 biolink:NamedThing coenzyme Q10 deficiency A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency. tmpaxzxjjyw_mondo_relaxed.owl CoQ10 deficiency|coenzyme Q10 deficiency disease|coenzyme Q10 deficiency, primary|CoQ10 deficiency, primary OMIM:607426|OMIM:614651|OMIM:612016|SCTID:724575009|DOID:0050730|MESH:C564403|OMIM:614652|GARD:0010423|Orphanet:35656|OMIMPS:607426|OMIM:614654|UMLS:CN229570|UMLS:C1843920|NCIT:C142083|OMIM:614650 https://rarediseases.info.nih.gov/diseases/10423/coenzyme-q10-deficiency owl:Class MONDO:0016578 biolink:NamedThing mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is a group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial oxidative phosphorylation disorder due to nDNA anomalies|OXPHOS disease due to nDNA anomalies|OXPHOS disease due to nuclear DNA anomalies 2022-03-01 UMLS:CN201731|Orphanet:2443 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO_0016387 owl:Class MONDO:0015461 biolink:NamedThing short rib-polydactyly syndrome Short rib-polydactyly syndromes are a group of bone malformations characterized by a narrow thorax and polydactyly (usually preaxial). tmpaxzxjjyw_mondo_relaxed.owl Orphanet:1505|UMLS:C0036996|SCTID:205484001|MESH:D012779|ICD10:Q77.2|ICD9:756.3|NCIT:C85065 owl:Class MONDO:0015929 biolink:NamedThing thoracic malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:182108 owl:Class MONDO:0021478 biolink:NamedThing benign neoplasm of nasopharynx A benign neoplasm that involves the nasopharynx. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of the nasopharynx|benign tumor of nasopharynx|benign nasopharyngeal neoplasm|nasopharyngeal neoplasm, benign|benign neoplasm of the nasopharynx|benign nasopharyngeal tumor|nasopharynx benign neoplasm ICD9:210.7|NCIT:C3595|UMLS:C0153938|ICD10:D10.6|SCTID:188800003 owl:Class UBERON:0003645 biolink:NamedThing metacarpal bone of digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013581 biolink:NamedThing metapodium bone 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010221 biolink:NamedThing CHIME syndrome CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy. tmpaxzxjjyw_mondo_relaxed.owl congenital disorder of glycosylation due to PIGL deficiency|CHIME syndrome|CHIME|coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome|PIGL-CDG|glycosylphosphatidylinositol biosynthesis defect 5|Zunich neuroectodermal syndrome|neuroectodermal dysplasia, CHIME type|Zunich-Kaye syndrome|neuroectodermal syndrome, Zunich type|coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome ICD10:Q87.8|SCTID:720639008|UMLS:C1848392|OMIM:280000|GARD:0000310|Orphanet:3474|MESH:C536729 owl:Class MONDO:0002817 biolink:NamedThing adrenal gland cancer A malignant neoplasm involving the adrenal gland tmpaxzxjjyw_mondo_relaxed.owl cancer of adrenal gland|malignant tumor of the adrenal gland|malignant tumor of adrenal gland|malignant adrenal gland tumor|malignant adrenal neoplasm|adrenal gland cancer|adrenal cancer|malignant neoplasm of adrenal gland|adrenal neoplasm|malignant adrenal gland neoplasm|tumor of the adrenal gland|malignant adrenal tumor|malignant neoplasm of the adrenal gland ICD10:C74|NCIT:C2859|MESH:D000310|SCTID:127021009|NCIT:C9338|ICD9:239.7|GARD:0005751|ICD9:194.0|ICD10:C74.9|DOID:3953 owl:Class MONDO:0001226 biolink:NamedThing acute contagious conjunctivitis Acute inflammation of the conjunctiva characterized by pink or red color in the eyes. tmpaxzxjjyw_mondo_relaxed.owl Contagious opthalmia|pinkeye|conjunctivitis infective SCTID:399219006|ICD9:041.89|DOID:11213|NCIT:C35704|UMLS:C1313983 owl:Class MONDO:0001214 biolink:NamedThing acute conjunctivitis Acute inflammation of the conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl acute conjunctivitis (disease)|conjunctivitis (disease), acute DOID:11184|UMLS:C0155141|ICD9:372.00|ICD9:372.03|ICD10:H10.02|SCTID:53726008|NCIT:C35195 owl:Class MONDO:0015525 biolink:NamedThing congenital pseudoarthrosis of the limbs tmpaxzxjjyw_mondo_relaxed.owl congenital pseudoarthrosis|congenital pseudarthrosis of the limbs GARD:0009722|Orphanet:157808|OMIM:609143|MESH:C535762 https://rarediseases.info.nih.gov/diseases/9722/congenital-pseudoarthrosis owl:Class MONDO:0015227 biolink:NamedThing non-syndromic limb malformation tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic limb malformation|isolated limb malformation Orphanet:109011 owl:Class GO:2000828 biolink:NamedThing regulation of parathyroid hormone secretion Any process that modulates the frequency, rate or extent of parathyroid hormone secretion. tmpaxzxjjyw_mondo_relaxed.owl regulation of parathormone secretion|regulation of PTH secretion|regulation of parathyrin secretion owl:Class MONDO:0007053 biolink:NamedThing restless legs syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl Ekbom syndrome|acromelalgia, hereditary|RLS1|restless legs syndrome, susceptibility to, 1 UMLS:C3888109|OMIM:102300|GARD:0009709|MESH:C538443 owl:Class MONDO:0005391 biolink:NamedThing restless legs syndrome A condition that occurs while resting or lying in bed; it is characterized by an irresistible urgency to move the legs to obtain relief from a strange and uncomfortable sensation in the legs. tmpaxzxjjyw_mondo_relaxed.owl WED|restless leg syndrome|Wittmaack-Ekbom syndrome|RLS|Willis-Ekbom disease GARD:0011926|ICD10:G25.81|OMIM:611242|NCIT:C84501|MESH:D012148|OMIM:102300|DOID:0050425|OMIM:610438|OMIMPS:102300|OMIM:615197|ICD9:333.94|OMIM:610439|OMIM:611185|EFO:0004270|SCTID:32914008|UMLS:C0035258|OMIM:612853|ICD9:333.99 owl:Class UBERON:0005699 biolink:NamedThing pedal digit 5 mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905215 biolink:NamedThing negative regulation of RNA binding Any process that stops, prevents or reduces the frequency, rate or extent of RNA binding. tmpaxzxjjyw_mondo_relaxed.owl downregulation of RNA binding|inhibition of RNA binding|down regulation of RNA binding|down-regulation of RNA binding owl:Class MONDO:0009467 biolink:NamedThing natal teeth-intestinal pseudoobstruction-patent ductus syndrome tmpaxzxjjyw_mondo_relaxed.owl Natal teeth, intestinal pseudoobstruction and patent ductus|intestinal pseudoobstruction with patent ductus arteriosus and NATAL teeth OMIM:243185|ICD10:Q87.8|Orphanet:1654|GARD:0003928|MESH:C538341|UMLS:C1855732 owl:Class UBERON:0003970 biolink:NamedThing placental labyrinth vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013105 biolink:NamedThing basal cell carcinoma, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl BCC5|basal cell carcinoma, susceptibility to, 5 UMLS:C2751601|OMIM:613062 owl:Class UBERON:0004314 biolink:NamedThing distal phalanx of manual digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003639 biolink:NamedThing manual digit 5 phalanx tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:38500 biolink:NamedThing EC 1.9.3.1 (cytochrome c oxidase) inhibitor An EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor that interferes with the action of cytochrome c oxidase (EC 1.9.3.1). tmpaxzxjjyw_mondo_relaxed.owl cytochrome-c oxidase inhibitors|ferrocytochrome c oxidase inhibitors|Warburg's respiratory enzyme inhibitor|cytochrome oxidase inhibitor|cytochrome aa3 inhibitor|ferrocytochrome-c:oxygen oxidoreductase inhibitors|NADH cytochrome c oxidase inhibitor|complex IV (mitochondrial electron transport) inhibitors|mitochondrial complex IV inhibitor|ferrocytochrome c oxidase inhibitor|indophenolase inhibitor|complex IV (mitochondrial electron transport) inhibitor|cytochrome a3 inhibitors|cytochrome c oxidase inhibitors|Warburg's respiratory enzyme inhibitors|cytochrome oxidase inhibitors|ferrocytochrome-c:oxygen oxidoreductase inhibitor|cytochrome aa3 inhibitors|mitochondrial cytochrome-c oxidase inhibitors|cytochrome c oxidase (EC 1.9.3.1) inhibitors|NADH cytochrome c oxidase inhibitors|cytochrome c oxidase (EC 1.9.3.1) inhibitor|cytochrome-c oxidase inhibitor|cytochrome c oxidase inhibitor|EC 1.9.3.1 (cytochrome c oxidase) inhibitors|mitochondrial complex IV inhibitors|EC 1.9.3.1 inhibitor|indophenol oxidase inhibitors|cytochrome a3 inhibitor|CcO inhibitor|EC 1.9.3.1 inhibitors|indophenol oxidase inhibitor|indophenolase inhibitors owl:Class CHEBI:25355 biolink:NamedThing mitochondrial respiratory-chain inhibitor tmpaxzxjjyw_mondo_relaxed.owl mitochondrial electron transport chain inhibitors|mitochondrial respiratory chain inhibitors|mitochondrial electron-transport chain inhibitor owl:Class MONDO:0010472 biolink:NamedThing developmental and epileptic encephalopathy, 36 tmpaxzxjjyw_mondo_relaxed.owl ALG13-CDG|congenital disorder of glycosylation type Is|congenital disorder of glycosylation, type Is|CDG Is|CDG syndrome type Is|EIEE36|CDG1S|epileptic encephalopathy, early infantile, 36|CDG-Is|congenital disorder of glycosylation type 1s|DEE36 Orphanet:324422|UMLS:C3550904|GARD:0012401|SCTID:733451007|DOID:0080470|OMIM:300884|ICD10:E77.8 owl:Class GO:0045933 biolink:NamedThing positive regulation of muscle contraction Any process that activates or increases the frequency, rate or extent of muscle contraction. tmpaxzxjjyw_mondo_relaxed.owl stimulation of muscle contraction|upregulation of muscle contraction|activation of muscle contraction|up regulation of muscle contraction|up-regulation of muscle contraction owl:Class UBERON:0006937 biolink:NamedThing inner ear epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006005 biolink:NamedThing Venezuelan equine encephalitis A condition caused by infection by the Venezuelan equine encephalitis virus, which is characterized by headache, fever, myalgia, nausea, and vomiting. tmpaxzxjjyw_mondo_relaxed.owl Venezuelan equine encephalitis virus infectious disease|Venezuelan equine fever|Venezuelan equine encephalitis virus disease or disorder|Venezuelan equine encephalitis virus caused disease or disorder NCIT:C35121|MESH:D004685|SCTID:417067005|ICD9:066.2|ICD10:A92.2|UMLS:C0014078|DOID:9584|EFO:0007534|GARD:0006355 https://rarediseases.info.nih.gov/diseases/6355/venezuelan-equine-encephalitis owl:Class MONDO:0005643 biolink:NamedThing Alphavirus infectious disease Virus diseases caused by members of the alphavirus genus of the family togaviridae. tmpaxzxjjyw_mondo_relaxed.owl Alphavirus caused disease or disorder|Alphavirus disease or disorder MESH:D018354|UMLS:C0206752|EFO:0007142 owl:Class GO:0034309 biolink:NamedThing primary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of primary alcohols. A primary alcohol is any alcohol in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. tmpaxzxjjyw_mondo_relaxed.owl monohydric alcohol biosynthetic process|primary alcohol anabolism|primary alcohol synthesis|primary alcohol biosynthesis|primary alcohol formation owl:Class GO:0046165 biolink:NamedThing alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. tmpaxzxjjyw_mondo_relaxed.owl alcohol biosynthesis|alcohol anabolism|alcohol formation|alcohol synthesis owl:Class MONDO:0024320 biolink:NamedThing inner ear neoplasm A rare neoplasm that arises from the inner ear. Representative examples include lipoma and acoustic schwannoma. tmpaxzxjjyw_mondo_relaxed.owl internal ear neoplasm (disease)|neoplasm of internal ear|tumor of internal ear|internal ear neoplasm|inner Ear neoplasm|internal Ear neoplasm|internal ear tumor NCIT:C39784|UMLS:C1512779 owl:Class MONDO:0002467 biolink:NamedThing inner ear disorder A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. tmpaxzxjjyw_mondo_relaxed.owl internal ear disease|disorder of internal ear|vestibular disorder|disease of internal ear|disease or disorder of internal ear|inner Ear disorder|labyrinthine disease|internal Ear disorder|internal ear disease or disorder MESH:D007759|ICD10:H83.9|NCIT:C27166|ICD10:H80.H83|SCTID:232297009|ICD10:H80-H83|ICD10:H83.90|DOID:2952 owl:Class UBERON:0003550 biolink:NamedThing forebrain pia mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002361 biolink:NamedThing pia mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004752 biolink:NamedThing neurofibroma of the heart A rare neurofibroma that affects the heart. tmpaxzxjjyw_mondo_relaxed.owl neurofibroma of the heart|neurofibroma of heart|heart neurofibroma|Cardiac neurofibroma NCIT:C5359|DOID:9300|UMLS:C1096349 owl:Class MONDO:0015912 biolink:NamedThing macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. tmpaxzxjjyw_mondo_relaxed.owl Sebastian platelet syndrome|MYH9 related thrombocytopenia|MYH9 related disorders|Epstein syndrome|MYH9-related syndromic thrombocytopenia|May-Hegglin thrombocytopenia|MYH-9 related disease|Sebastian syndrome|May-Hegglin anomaly|macrothrombocytopenia with dispersed leukocytic inclusions|MYH9-related disorder|macrothrombocytopenia progressive deafness|matins|Brodie Chole griffin syndrome|MYH9-related syndrome|bleeding disorder, Platelet-type, 6|FTNS|macrothrombocytopenia with leukocyte inclusions|macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss|Alport syndrome with macrothrombocytopenia, formerly|Alport syndrome with macrothrombocytopenia|macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions|MHA|macrothrombocytopenia and progressive sensorineural deafness|MYH9-related disease|SBS|macrothrombocytopenia, nephritis, and deafness|Fechtner syndrome|Dohle leukocyte inclusions with giant platelets|giant platelet syndrome with thrombocytopenia|MYH9-RD OMIM:605249|DOID:0060651|UMLS:C1834478|GARD:0000180|UMLS:CN226270|SCTID:234485006|Orphanet:1019|ICD10:D69.4|OMIM:155100|Orphanet:1984|OMIM:153650|MESH:C537831|ICD9:287.33|GARD:0000179|Orphanet:850|Orphanet:807|OMIM:600208|SCTID:234484005|Orphanet:182050|SCTID:236422008|NCIT:C131646|UMLS:CN226018|OMIM:153640|ICD9:582.89|SCTID:712922002|UMLS:CN226030|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia owl:Class GO:1900247 biolink:NamedThing regulation of cytoplasmic translational elongation Any process that modulates the frequency, rate or extent of cytoplasmic translational elongation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006448 biolink:NamedThing regulation of translational elongation Any process that modulates the frequency, rate, extent or accuracy of translational elongation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2001233 biolink:NamedThing regulation of apoptotic signaling pathway Any process that modulates the frequency, rate or extent of apoptotic signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl regulation of apoptotic signalling pathway owl:Class GO:0042981 biolink:NamedThing regulation of apoptotic process Any process that modulates the occurrence or rate of cell death by apoptotic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of apoptosis|apoptosis regulator activity owl:Class MONDO:0005609 biolink:NamedThing herpes zoster A common dermal and neurologic disorder caused by reactivation of the varicella-zoster virus that has remained dormant within dorsal root ganglia, often for decades, after the patient's initial exposure to the virus in the form of varicella (chickenpox). It is characterized by severe neuralgic pain along the distribution of the affected nerve and crops of clustered vesicles over the area. tmpaxzxjjyw_mondo_relaxed.owl Zoster|herpes zona|herpes Zoster|shingles|postherpetic neuralgia EFO:0006510|ICD10:B02|ICD10:B02.9|DOID:8536|ICD9:053|SCTID:4740000|MESH:D006562|NCIT:C71079|UMLS:C0019360 owl:Class HGNC:37 biolink:NamedThing ABCA7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012024 biolink:NamedThing retinitis pigmentosa 26 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa caused by mutation in CERKL|RP 26|retinitis pigmentosa type 26|RP26|retinitis pigmentosa 26|CERKL retinitis pigmentosa GARD:0010397|OMIM:608380|DOID:0110368|ICD10:H35.5|MESH:C564249|UMLS:C1842127 https://rarediseases.info.nih.gov/diseases/10397/retinitis-pigmentosa-26 owl:Class UBERON:0009669 biolink:NamedThing embryonic cloacal lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012463 biolink:NamedThing cloacal lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002247 biolink:NamedThing factor X deficiency A coagulation disorder characterized by the partial or complete absence of factor X activity in the blood. tmpaxzxjjyw_mondo_relaxed.owl MESH:D005171|NCIT:C131632|SCTID:76642003 owl:Class MONDO:0002242 biolink:NamedThing coagulation protein disease Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding. tmpaxzxjjyw_mondo_relaxed.owl coagulation factor deficiency|coagulation factor deficiency syndrome NCIT:C27215|MESH:D020147|UMLS:C0600503|SCTID:86075001|DOID:2212 owl:Class MONDO:0023679 biolink:NamedThing hematohidrosis Hematohidrosis is a rare condition characterized by blood oozing from intact skin and mucosa. Signs and symptoms include sweating blood, crying bloody tears, bleeding from the nose, bleeding from the ears, or oozing bloodfrom other skin surfaces. The episodes are usually self-limiting. tmpaxzxjjyw_mondo_relaxed.owl Hematidrosis|Hematohidrosis ICD10:L74.8|SCTID:238757003|UMLS:C0473554|GARD:0013131|ICD9:705.89 owl:Class GO:0016054 biolink:NamedThing organic acid catabolic process The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. tmpaxzxjjyw_mondo_relaxed.owl organic acid breakdown|organic acid catabolism|organic acid degradation owl:Class HP:0002573 biolink:NamedThing Hematochezia The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. tmpaxzxjjyw_mondo_relaxed.owl Recurrent rectal bleeding|Rectal bleeding MSH:D006471|SNOMEDCT_US:405729008|SNOMEDCT_US:236068001|UMLS:C0018932 Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. HP:0002255|HP:0002609 human_phenotype owl:Class HP:0025085 biolink:NamedThing Bloody diarrhea Passage of many stools containing blood. tmpaxzxjjyw_mondo_relaxed.owl Blood in stool|Bloody stool|Bloody diarrhoea|Bloody diarrhea|Bloody bowel movement 2016-10-15 13:58:14+00:00 Diarrhea that contains bright red or maroon-colored blood may be referred to as hematochezia, while melena is used to describe black, tarry, and smelly diarrhea. HPO:probinson human_phenotype owl:Class MONDO:0008037 biolink:NamedThing myelinated optic nerve fibers tmpaxzxjjyw_mondo_relaxed.owl myelinated optic nerve fibers OMIM:159500 owl:Class MONDO:0009225 biolink:NamedThing fever, familial lifelong persistent tmpaxzxjjyw_mondo_relaxed.owl fever, familial lifelong persistent MESH:C565569|OMIM:228400|UMLS:C1856788 owl:Class MONDO:0003190 biolink:NamedThing middle ear carcinoma A carcinoma that arises from epithelial cells of the middle ear tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the middle ear|middle Ear carcinoma|carcinoma of middle Ear|middle ear carcinoma|carcinoma of the middle Ear|carcinoma of middle ear UMLS:C1334760|NCIT:C6089|DOID:4893 owl:Class MONDO:0002796 biolink:NamedThing melanotic medulloblastoma A rare malignant embryonal neoplasm characterized by the presence of small cells which resemble the cells of classic medulloblastoma and a minor population of melanin-forming neuroepithelial cells. It usually has an unfavorable clinical course. tmpaxzxjjyw_mondo_relaxed.owl melanocytic medulloblastoma|medulloblastoma, melanotic|MMBL|medulloblastoma with melanotic differentiation|medulloblastoma, melanotic (morphologic abnormality)|melanotic medulloblastoma ONCOTREE:MMBL|UMLS:C1275668|DOID:3868|NCIT:C9497|MESH:D008527 owl:Class MONDO:0007959 biolink:NamedThing medulloblastoma A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity. tmpaxzxjjyw_mondo_relaxed.owl cerebellar medulloblastoma|medulloblastoma|medulloblastomas|medulloblastoma, malignant|medulloblastoma, Desmoplastic|localized primitive neuroectodermal tumor|brain medulloblastoma|MDB|CPNET|CNS PNET|medulloblastoma with extensive nodularity|cerebellum embryonal neoplasm|infratentorial primitive neuroectodermal tumor ICDO:9470/3|GARD:0007005|UMLS:C1334410|DOID:0060104|Orphanet:251858|UMLS:C0751291|UMLS:C0025149|Orphanet:616|EFO:0002939|MESH:D008527|NCIT:C3222|Orphanet:251863|DOID:0050902|ICD10:C71.6|UMLS:C1334970|ONCOTREE:MBL|SCTID:443333004|Orphanet:251867|MedDRA:10027107|OMIM:155255 https://rarediseases.info.nih.gov/diseases/7005/medulloblastoma owl:Class UBERON:0001734 biolink:NamedThing palatine uvula tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014706 biolink:NamedThing primitive renal collecting duct system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012275 biolink:NamedThing meso-epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060051 biolink:NamedThing negative regulation of protein glycosylation Any process that stops, prevents, or reduces the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of protein amino acid glycosylation owl:Class GO:0031400 biolink:NamedThing negative regulation of protein modification process Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. tmpaxzxjjyw_mondo_relaxed.owl downregulation of protein modification|inhibition of protein modification|down regulation of protein modification|down-regulation of protein modification owl:Class MONDO:0004595 biolink:NamedThing acute pulmonary heart disease tmpaxzxjjyw_mondo_relaxed.owl SCTID:67189007|ICD9:415|UMLS:C0155671|DOID:8514 owl:Class MONDO:0004596 biolink:NamedThing cor pulmonale Hypertrophy and dilation of the right ventricle of the heart that is caused by pulmonary hypertension. This condition is often associated with pulmonary parenchymal or vascular diseases, such as chronic obstructive pulmonary disease and pulmonary embolism. tmpaxzxjjyw_mondo_relaxed.owl cor pulmonale|diseases, pulmonary heart|heart diseases, pulmonary|disease, pulmonary heart|pulmonary heart diseases|heart disease, pulmonary|pulmonary heart disease|cardiopulmonary disease DOID:8515|MESH:D011660|UMLS:C0034072|ICD10:I27.81|SCTID:274096000|ICD10:I27.9 owl:Class HP:0004325 biolink:NamedThing Decreased body weight Abnormally low body weight. tmpaxzxjjyw_mondo_relaxed.owl Decreased weight|Low body weight|Weight less than 3rd percentile|Decreased body weight|Low weight SNOMEDCT_US:161832001|MSH:D015431|UMLS:C0041667|UMLS:C1262477|UMLS:C1844806|MSH:D013851|SNOMEDCT_US:248342006|SNOMEDCT_US:89362005|SNOMEDCT_US:262285001 peter 2008-02-27T03:22:00Z HP:0001823|HP:0001826 human_phenotype owl:Class GO:0098801 biolink:NamedThing regulation of renal system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by the renal system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021479 biolink:NamedThing benign neoplasm of oropharynx A benign neoplasm that involves the oropharynx. tmpaxzxjjyw_mondo_relaxed.owl benign oropharyngeal tumor|benign neoplasm of the oropharynx|oropharynx benign neoplasm|benign oropharyngeal neoplasm|benign tumor of the oropharynx|oropharyngeal neoplasm benign|benign tumor of oropharynx SCTID:92259008|ICD9:210.6|UMLS:C0347229|NCIT:C4604 owl:Class MONDO:0021364 biolink:NamedThing neoplasm of oropharynx A neoplasm (disease) that involves the oropharynx. tmpaxzxjjyw_mondo_relaxed.owl tumor of oropharynx|neoplasm of oropharynx|oropharynx tumor|oropharynx neoplasm|tumor of the oropharynx|oropharyngeal neoplasm|neoplasm of the oropharynx|oropharyngeal neoplasms|oropharyngeal tumor|oropharynx neoplasm (disease) SCTID:126809003|NCIT:C3291|UMLS:C0029295 owl:Class UBERON:0002048 biolink:NamedThing lung tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000171 biolink:NamedThing respiration organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:9000172 biolink:NamedThing exposure to inorganic compound An exposure to inorganic molecular entity. tmpaxzxjjyw_mondo_relaxed.owl exposure to inorganic molecular entity owl:Class ECTO:0000231 biolink:NamedThing exposure to chemical An exposure to chemical entity. tmpaxzxjjyw_mondo_relaxed.owl exposure to chemical entity owl:Class MONDO:0003504 biolink:NamedThing anal canal neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the anal canal. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine neoplasm of anal canal|neuroendocrine tumor of anus|anus neuroendocrine neoplasm|anal canal neuroendocrine tumor|neuroendocrine neoplasm of anus|anal neuroendocrine neoplasm|anus neuroendocrine tumor|neuroendocrine neoplasm of the anus|anal canal neuroendocrine neoplasm|anal canal neuroendocrine tumor, well differentiated, low or intermediate grade|anal canal NET|anal neuroendocrine tumor SCTID:717917007|DOID:5545|NCIT:C5603 owl:Class MONDO:0003646 biolink:NamedThing rectum neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the rectum. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine neoplasm of the rectum|rectal neuroendocrine neoplasm|NET of the rectum|rectum NET|rectal NET|neuroendocrine neoplasm of rectum|neuroendocrine tumor of rectum|rectum neuroendocrine tumor, well differentiated, low or intermediate grade|rectum neuroendocrine neoplasm|rectum neuroendocrine tumor DOID:5777|UMLS:C1335686|NCIT:C5698|Orphanet:100081 owl:Class MONDO:0018758 biolink:NamedThing familial patent arterial duct Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities. tmpaxzxjjyw_mondo_relaxed.owl OMIM:617039|Orphanet:466729|OMIM:617035|UMLS:CN242171|OMIM:607411 owl:Class MONDO:0019822 biolink:NamedThing arterial duct anomaly tmpaxzxjjyw_mondo_relaxed.owl patent ductus arteriosus anomalies Orphanet:95485 owl:Class MONDO:0000224 biolink:NamedThing acquired carbohydrate metabolism disease An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolism. tmpaxzxjjyw_mondo_relaxed.owl carbohydrate metabolism disease DOID:0050013 owl:Class MONDO:0009185 biolink:NamedThing amelocerebrohypohidrotic syndrome Kohlschütter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. tmpaxzxjjyw_mondo_relaxed.owl epilepsy-dementia-amelogenesis imperfecta syndrome|amelocerebrohypohidrotic syndrome|epilepsy and Yellow teeth|Kohlschutter Tonz syndrome|Kohlschutter syndrome|KOHLSCHUTTER-Tonz syndrome|Kohlschutter-Tonz syndrome|epilepsy dementia amelogenesis imperfecta|epilepsy, dementia, and amelogenesis imperfecta|KTZS OMIM:226750|Orphanet:1946|UMLS:C0406740|DOID:0111668|GARD:0003128|MESH:C537213|SCTID:109478007|ICD10:G40.8 owl:Class UBERON:0035608 biolink:NamedThing dura mater lymph vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001473 biolink:NamedThing lymphatic vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011655 biolink:NamedThing alveolar soft part sarcoma An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh. tmpaxzxjjyw_mondo_relaxed.owl alveolar soft PART sarcoma|alveolar soft-tissue sarcoma|alveolar soft Part sarcoma|alveolar soft part sarcoma (disease)|adult alveolar soft part sarcoma|ASPS|adult alveolar soft Part sarcoma|childhood alveolar soft part sarcoma|adult alveolar soft-Part sarcoma|alveolar soft part sarcoma|alveolar soft-part sarcoma|pediatric alveolar soft Part sarcoma|alveolar soft tissue sarcoma alveolar soft part sarcoma (disease) UMLS:C0279544|Orphanet:163699|HP:0012218|NCIT:C3750|ICD9:171.9|SCTID:404056007|OMIM:606243|UMLS:C0206657|ICDO:9581/3|GARD:0005654|NCIT:C7943|EFO:0007143|MedDRA:10001882|ONCOTREE:ASPS|DOID:4239|ICD10:C49.9|MESH:D018234 owl:Class HGNC:26348 biolink:NamedThing SEPTIN12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010097 biolink:NamedThing Tatsumi factor deficiency tmpaxzxjjyw_mondo_relaxed.owl Tatsumi factor deficiency MESH:C564787|UMLS:C1848931|OMIM:272650 owl:Class NCBITaxon:53258 biolink:NamedThing Variola minor virus tmpaxzxjjyw_mondo_relaxed.owl Variola virus subsp. minor GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10255 biolink:NamedThing Variola virus tmpaxzxjjyw_mondo_relaxed.owl small pox virus|smallpox virus|variola virus VAR|smallpox GC_ID:1 NCBITaxon:12871 ncbi_taxonomy owl:Class MONDO:0002098 biolink:NamedThing facial nerve disorder A disease involving the facial nerve. tmpaxzxjjyw_mondo_relaxed.owl disorders of the VIIth cranial nerve|facial nerve disorder|disorder of seventh cranial nerve|disorders of the seventh nerve|facial neuropathy|facial nerve disease|disorder of facial nerve|disease or disorder of facial nerve|disease of facial nerve|facial nerve disease or disorder ICD9:351|DOID:1756|MESH:D005155|ICD10:G51.9|ICD9:351.9|ICD10:G51|SCTID:422426003|UMLS:C0015464|NCIT:C27594 owl:Class MONDO:0013275 biolink:NamedThing hemolytic anemia due to glucophosphate isomerase deficiency Glucosephosphate isomerase (GPI) deficiency is an erythroenzymopathy characterized by chronic nonspherocytic hemolytic anemia. tmpaxzxjjyw_mondo_relaxed.owl glucosephosphate isomerase deficiency|hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency OMIM:613470|GARD:0002502|UMLS:CN072763|ICD10:D55.2|UMLS:C3150730|Orphanet:712 owl:Class MONDO:0017688 biolink:NamedThing disorder of glycolysis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:308459|UMLS:CN227176 owl:Class HGNC:22197 biolink:NamedThing AP5Z1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006723 biolink:NamedThing denture stomatitis Inflammation of the mouth due to denture irritation. tmpaxzxjjyw_mondo_relaxed.owl denture sore mouth MESH:D013282|DOID:11875|UMLS:C0038364|EFO:1000893|ICD9:528.9|SCTID:69254008|ICD10:K12.1 owl:Class MONDO:0004277 biolink:NamedThing gonorrhea A common sexually transmitted bacterial infection caused by Neisseria gonorrhoeae. It is transmitted through vaginal, oral, or anal intercourse. Infected individuals may be asymptomatic. Symptoms in males include burning sensation during urination, discharge from the penis, and painful swelling of the testes. Symptoms in females include painful urination, vaginal discharge, and vaginal bleeding between periods. If untreated, the infection may lead to pelvic inflammatory disease. tmpaxzxjjyw_mondo_relaxed.owl PAC|papular acrodermatitis of childhood|acrodermatitis, papular infantile|infections, Neisseria gonorrhoeae|Neisseria gonorrhoeae infection|chronic gonococcal infectious disease of upper genitourinary tract|Crosti-gianotti syndrome|acrodermatitis, infantile lichenoid|Gianotti Crosti syndrome|PAS|chronic gonococcal infectious disease of lower genitourinary tract|GC DOID:7551|MESH:D006069|Orphanet:100642|ICD9:098.89|GARD:0006499|UMLS:C0018081|NCIT:C92950|SCTID:15628003|ICD9:098.32|ICD9:098|ICD9:098.2|ICD10:A54|ICD10:A54.9 owl:Class MONDO:0005323 biolink:NamedThing bacterial sexually transmitted disease Bacterial diseases that are potentially transmitted or propagated by sexual conduct. tmpaxzxjjyw_mondo_relaxed.owl EFO:0003955|UMLS:C0036917|MESH:D015231 owl:Class MONDO:0007233 biolink:NamedThing second branchial cleft anomaly A congenital defect in the neck that occurs during early embryonic development. It is caused by developmental abnormalities of the pharyngeal arches and results in the development of a cyst or a fissure in the side of the neck. tmpaxzxjjyw_mondo_relaxed.owl branchial cleft remnant|second branchial cleft cyst|branchial cleft|branchial cleft anomalies|branchial cysts|second branchial cleft fistula ICD10:Q18.0|SCTID:73381000119100|Orphanet:141022|NCIT:C104813|OMIM:113600 owl:Class UBERON:0015007 biolink:NamedThing cervical vertebra endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034736 biolink:NamedThing coracoclavicular ligament tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008846 biolink:NamedThing skeletal ligament tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33256 biolink:NamedThing primary amide A derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. tmpaxzxjjyw_mondo_relaxed.owl primary amide|primary amides owl:Class CHEBI:32988 biolink:NamedThing amide An amide is a derivative of an oxoacid RkE(=O)l(OH)m (l =/= 0) in which an acidic hydroxy group has been replaced by an amino or substituted amino group. tmpaxzxjjyw_mondo_relaxed.owl Amide|amides owl:Class MONDO:0015185 biolink:NamedThing intestinal polyposis syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345891|Orphanet:104010|NCIT:C155954|UMLS:CN197525|SCTID:254589009|MESH:D044483|MedDRA:10057018 owl:Class GO:0031348 biolink:NamedThing negative regulation of defense response Any process that stops, prevents, or reduces the frequency, rate or extent of a defense response. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of defense response|inhibition of defense response|down regulation of defense response|downregulation of defense response owl:Class GO:0031347 biolink:NamedThing regulation of defense response Any process that modulates the frequency, rate or extent of a defense response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017442 biolink:NamedThing congenital absence of thigh and lower leg with foot present tmpaxzxjjyw_mondo_relaxed.owl Femorotibiofibular intercalary transverse meromelia ICD10:Q72.1|Orphanet:294977|SCTID:55852007|ICD9:755.33 owl:Class MONDO:0017420 biolink:NamedThing intercalary limb defects tmpaxzxjjyw_mondo_relaxed.owl intercalary meromelia Orphanet:294927 owl:Class CL:0001023 biolink:NamedThing Kit-positive, CD34-positive common myeloid progenitor A common myeloid progenitor that is Kit-positive and CD34-positive, Il7ra-negative, and is SCA1-low and Fcgr2-low and Fcgr3-low. tmpaxzxjjyw_mondo_relaxed.owl CD117-positive common myeloid precursor Markers are associated with mouse cells. Originally described in the dendritic cell ontology (DC_CL:0000034)(PMID:19243617). cell owl:Class CL:0001059 biolink:NamedThing common myeloid progenitor, CD34-positive A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. These cells are CD34-positive, and express Gata1, Gata2, C/EBPa, and Pu.1. tmpaxzxjjyw_mondo_relaxed.owl pluripotent stem cell (bone marrow)|CMP|CFU-S|myeloid stem cell|CFU-GEMM|multipotential myeloid stem cell|common myeloid precursor, CD34-positive|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte CMP are reportedly CD16-positive, CD32-positive, CD38-positive, CD45RA-negative, CD110-negative, CD117-positive, CD123-positive, and SCA1-negative. cell owl:Class MONDO:0006850 biolink:NamedThing maxillary sinus neoplasm A benign or malignant neoplasm that affects the maxillary sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl tumor of the maxillofacial sinus|maxillary sinus neoplasm|neoplasm of maxillofacial sinus|maxillary sinus neoplasm (disease)|tumor of maxillary sinus|tumor of maxillary antrum|neoplasm of the maxillary antrum|neoplasm of the maxillary sinus|neoplasm of maxillary antrum|tumor of the maxillary antrum|maxillofacial sinus tumor|tumor of maxillofacial sinus|maxillary sinus tumor|tumor of the maxillary sinus|neoplasm of maxillary sinus|maxillofacial sinus neoplasm|neoplasm of the maxillofacial sinus|maxillary antrum tumor|maxillary antrum neoplasm EFO:1001035|MESH:D008444|MedDRA:10026130|NCIT:C3219|UMLS:C0024958|DOID:1358|SCTID:126676009 MONDO:0021213 owl:Class MONDO:0016344 biolink:NamedThing hydranencephaly A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor. tmpaxzxjjyw_mondo_relaxed.owl Hydroanencephaly|hydranencephaly (disease)|hydranencephaly hydranencephaly (disease) UMLS:C0020225|GARD:0006681|MESH:D006832|Orphanet:2177|ICD10:Q04.3|DOID:4626|HP:0002324|SCTID:30023002|NCIT:C98949 owl:Class MONDO:0017103 biolink:NamedThing encephaloclastic disorder tmpaxzxjjyw_mondo_relaxed.owl Orphanet:269190|UMLS:CN227080 owl:Class MONDO:0021059 biolink:NamedThing head or neck disorder/disorder Any disease or disorder affecting the head and/or neck region. tmpaxzxjjyw_mondo_relaxed.owl craniocervical region disease or disorder|disease of craniocervical region|head or neck disorder|disease or disorder of craniocervical region|craniocervical region disease|disorder of craniocervical region|head and neck disorder 2022-04-01 NCIT:C27571|UMLS:C1333941 Reason: grouping class. Term to consider: none owl:Class MONDO:0003872 biolink:NamedThing ovarian papillary cystadenoma A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts. tmpaxzxjjyw_mondo_relaxed.owl ovarian papillary cystadenoma UMLS:C1335175|DOID:6405|NCIT:C7278 owl:Class MONDO:0003813 biolink:NamedThing ovarian papillary tumor A benign, borderline, or malignant epithelial tumor that arises from the ovary and is characterized by the presence of papillary proliferations. Representative examples include surface papilloma, borderline serous surface papillary tumor, and serous surface papillary adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl ovarian papillary tumour|ovarian papillary tumor (morphologic abnormality)|papillary tumor of ovary|papillary neoplasm of the ovary|papillary tumor of the ovary|papillary neoplasm of ovary|ovarian papillary tumor|ovarian papillary neoplasm UMLS:C0476121|DOID:6214|NCIT:C8430 owl:Class MONDO:0019426 biolink:NamedThing X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome is characterised by intellectual and motor deficit, spastic quadriparesis and agenesis of the corpus callosum, without craniofacial abnormalities or seizures. It has been described in four male members of a family. The mode of inheritance is most likely X-linked recessive. tmpaxzxjjyw_mondo_relaxed.owl X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis GARD:0012489|ICD10:Q87.8|Orphanet:85330|UMLS:CN206182 owl:Class MONDO:0007502 biolink:NamedThing ear pits, posterior helical tmpaxzxjjyw_mondo_relaxed.owl ear pits, posterior helical|earlobe Indentations, posterior|posterior helical Ear pits OMIM:128710 owl:Class MONDO:0013533 biolink:NamedThing hyperlipidemia due to hepatic triglyceride lipase deficiency Hyperlipidemia due to hepatic triacylglycerol lipase deficiency is a rare, genetic hyperalphalipoproteinemia characterized by elevated plasma cholesterol and triglyceride (TG) levels with a marked TG enrichment of low- and high-density lipoproteins (HDL), presence of circulating beta-very low density lipoproteins and elevated HDL cholesterol levels, in the presence of a very low, or undetectable, postheparin plasma hepatic lipase activity. Premature atherosclerosis and/or coronary heart disease may be associated. tmpaxzxjjyw_mondo_relaxed.owl hyperlipidemia due to hepatic triacylglycerol lipase deficiency|hyperlipidemia due to HL deficiency|hyperlipidemia due to HTGL deficiency|hepatic lipase deficiency|HL deficiency|hyperlipidemia due to hepatic lipase deficiency|lipc deficiency SCTID:720940008|GARD:0012864|OMIM:614025|ICD10:E78.4|Orphanet:140905|UMLS:C3151466 owl:Class GO:0055026 biolink:NamedThing negative regulation of cardiac muscle tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle tissue development. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of heart muscle development|down-regulation of cardiac muscle development|inhibition of cardiac muscle development|downregulation of cardiac muscle development|down regulation of cardiac muscle development owl:Class GO:0045843 biolink:NamedThing negative regulation of striated muscle tissue development Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle development. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of striated muscle development|down regulation of striated muscle development|inhibition of striated muscle development|downregulation of striated muscle development owl:Class MONDO:0020562 biolink:NamedThing pleomorphic liposarcoma Pleomorphic liposarcoma (PLS), the rarest subtype of liposarcoma (LS), is an aggressive, fast growing tumor located usually in the deep soft tissues of the lower and upper extremities. It is characterized by a variable number of pleomorphic lipoblasts and, in contrast to dedifferentiated liposarcoma, it lacks any association with well-differentiated liposarcoma. tmpaxzxjjyw_mondo_relaxed.owl pleomorphic liposarcoma|PLS|pleomorphic liposarcoma (morphologic abnormality)|PLLS ONCOTREE:PLLS|UMLS:C0205825|Orphanet:99969|MESH:D008080|EFO:0003083|DOID:5702|ICDO:8854/3|ICD9:171.9|SCTID:404071006|ICD10:C49.9|NCIT:C3705 owl:Class MONDO:0005060 biolink:NamedThing liposarcoma A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors. tmpaxzxjjyw_mondo_relaxed.owl liposarcoma|sarcoma of lip|liposarcoma, malignant|lip sarcoma Orphanet:69078|MESH:D008080|ICD9:171.9|MedDRA:10024627|ONCOTREE:LIPO|GARD:0006913|ICDO:8850/3|NCIT:C3194|UMLS:C0023827|EFO:0000569|ICD10:C49.9|SCTID:254829001|OMIM:613488|DOID:3382 https://rarediseases.info.nih.gov/diseases/6913/liposarcoma owl:Class MONDO:0021259 biolink:NamedThing prostate neoplasm A neoplasm (disease) that involves the prostate gland. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of prostate gland|tumor of the prostate|neoplasm of prostate|tumor of prostate gland|nodular prostate|prostate nodule|prostate tumor|neoplasm of the prostate|prostate gland neoplasm|tumor of prostate|prostate gland neoplasm (disease)|prostate gland tumor ICD9:600.1|DOID:13206|ICD10:N40|ONCOTREE:PROSTATE|NCIT:C3343 MONDO:0001659 owl:Class MONDO:0006054 biolink:NamedThing reproductive system neoplasm A benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system. tmpaxzxjjyw_mondo_relaxed.owl reproductive system tumor|neoplasm of the reproductive system|reproductive system neoplasm|reproductive tumor|tumor of reproductive system|reproductive neoplasm|tumor of the reproductive system|reproductive system neoplasm (disease)|neoplasm of reproductive system UMLS:C0178830|NCIT:C3674|EFO:1000051 owl:Class UBERON:0009125 biolink:NamedThing petrosal placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003078 biolink:NamedThing epibranchial placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016879 biolink:NamedThing future central nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:688353 biolink:NamedThing Lichtheimia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:499202 biolink:NamedThing Lichtheimiaceae tmpaxzxjjyw_mondo_relaxed.owl Mycocladaceae|Mycocladiaceae GC_ID:1|PMID:17997297 ncbi_taxonomy owl:Class MONDO:0019998 biolink:NamedThing gastroduodenal malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:97944 owl:Class MONDO:0020019 biolink:NamedThing digestive tract malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98039 owl:Class HGNC:3229 biolink:NamedThing EGF tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:28568 biolink:NamedThing Trichocomaceae tmpaxzxjjyw_mondo_relaxed.owl Eurotiaceae GC_ID:1 NCBITaxon:34380 ncbi_taxonomy owl:Class NCBITaxon:5042 biolink:NamedThing Eurotiales tmpaxzxjjyw_mondo_relaxed.owl Elaphomycetales|green and blue molds GC_ID:1 NCBITaxon:36045 ncbi_taxonomy owl:Class MONDO:0002428 biolink:NamedThing protozoa infectious disease An infection that is caused by protozoans. tmpaxzxjjyw_mondo_relaxed.owl sarcomastigophora infectious disease|protozoal infection|parasitic protozoa infectious disease|Mastigophora infectious disease MESH:D011528|ICD10:B50-B64|NCIT:C34953|DOID:2789|ICD10:B64 owl:Class MONDO:0056822 biolink:NamedThing amyotonia congenita tmpaxzxjjyw_mondo_relaxed.owl amyotonia congenita|Oppenheim disease OMIM:205000 owl:Class UBERON:0022297 biolink:NamedThing palpebral branch of infra-orbital nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003437 biolink:NamedThing eyelid nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35297 biolink:NamedThing acene A polycyclic aromatic hydrocarbon consisting of fused benzene rings in a rectilinear arrangement. tmpaxzxjjyw_mondo_relaxed.owl polyacenes|Acen|acene|acenes|Azen owl:Class CHEBI:51269 biolink:NamedThing acenes Polycyclic aromatic hydrocarbons consisting of fused benzene rings in a rectilinear arrangement and their substitution derivatives. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1001567 biolink:NamedThing lung endothelial cell tmpaxzxjjyw_mondo_relaxed.owl pulmonary vessel endothelial cell|endothelial cell of lung cl owl:Class CL:0000082 biolink:NamedThing epithelial cell of lung An epithelial cell of the lung. tmpaxzxjjyw_mondo_relaxed.owl lung epithelial cell BTO:0004299 cell owl:Class GO:0001523 biolink:NamedThing retinoid metabolic process The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity. tmpaxzxjjyw_mondo_relaxed.owl retinoid metabolism owl:Class GO:0016101 biolink:NamedThing diterpenoid metabolic process The chemical reactions and pathways involving diterpenoid compounds, terpenoids with four isoprene units. tmpaxzxjjyw_mondo_relaxed.owl diterpenoid metabolism|diterpene metabolic process|diterpene metabolism owl:Class UBERON:0002355 biolink:NamedThing pelvic region of trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000475 biolink:NamedThing organism subdivision tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013739 biolink:NamedThing chilblain lupus 2 Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene. tmpaxzxjjyw_mondo_relaxed.owl SAMHD1 chilblain lupus|Chilblain lupus type 2|chilblain lupus 2|chilblain lupus caused by mutation in SAMHD1|CHBL2 OMIM:614415|UMLS:C3280721|Orphanet:90280 owl:Class MONDO:0018827 biolink:NamedThing familial chilblain lupus An instance of Chilblain lupus that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary chilblain lupus|hereditary Chilblain lupus OMIMPS:610448|UMLS:CN776917|Orphanet:481662 owl:Class NCBITaxon:33317 biolink:NamedThing Protostomia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:30089 biolink:NamedThing acetate A monocarboxylic acid anion resulting from the removal of a proton from the carboxy group of acetic acid. tmpaxzxjjyw_mondo_relaxed.owl Azetat|acetic acid, ion(1-)|acetate|ACETATE ION|MeCO2 anion|Ethanoat|CH3-COO(-)|ethanoate owl:Class CHEBI:35757 biolink:NamedThing monocarboxylic acid anion A carboxylic acid anion formed when the carboxy group of a monocarboxylic acid is deprotonated. tmpaxzxjjyw_mondo_relaxed.owl Carboxylate|monocarboxylic acid anions|Monocarboxylate|monocarboxylates|a monocarboxylate owl:Class GO:0061178 biolink:NamedThing regulation of insulin secretion involved in cellular response to glucose stimulus Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. tmpaxzxjjyw_mondo_relaxed.owl regulation of insulin secretion in response to glucose owl:Class MONDO:0021488 biolink:NamedThing benign neoplasm of lacrimal gland A benign neoplasm that involves the lacrimal gland. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of the lacrimal gland|benign neoplasm of the lacrimal gland|benign tumor of lacrimal gland|benign lacrimal gland neoplasm|benign lacrimal gland tumor|lacrimal gland benign neoplasm NCIT:C3621|UMLS:C0154024|ICD9:224.2|SCTID:92169007 owl:Class MONDO:0021222 biolink:NamedThing lacrimal gland neoplasm A neoplasm (disease) that involves the lacrimal gland. tmpaxzxjjyw_mondo_relaxed.owl tumor of the lacrimal gland|tumor of lacrimal gland|neoplasm of lacrimal gland|lacrimal gland neoplasm (disease)|neoplasm of the lacrimal gland|lacrimal gland tumor NCIT:C4360 owl:Class MONDO:0018270 biolink:NamedThing extraskeletal Ewing sarcoma A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy. tmpaxzxjjyw_mondo_relaxed.owl extraosseous Ewing tumor|extraskeletal Ewing's sarcoma|EOE|Extra-osseous Ewing's sarcoma|extraskeletal Ewing sarcoma|extraosseous Ewing's sarcoma|extraosseous Ewing sarcoma|extraskeletal Ewing tumor|extraosseous Ewing's tumor Orphanet:370334|ICD10:C49.9|UMLS:C0279980|DOID:4232|NCIT:C7135|NCIT:C27293|UMLS:CN204849|UMLS:C1333514 owl:Class MONDO:0012817 biolink:NamedThing Ewing sarcoma A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms. tmpaxzxjjyw_mondo_relaxed.owl localized Ewing sarcoma|ES|Ewing sarcoma|Ewings sarcoma-primitive neuroectodermal tumor|Ewings sarcoma|sarcoma, Ewing's|localized Ewing's tumor|neuroepithelioma, peripheral|Ewing tumor|Ewing's sarcoma|localized peripheral primitive neuroectodermal tumor|localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor|Ewing's tumor|localized Ewing's sarcoma|PNET of Thoracopulmonary region|Ewing's family localized tumor NCIT:C9341|ICD10:C40.3|DOID:3369|ICD10:C40.0|MESH:D012512|ICDO:9260/3|OMIM:612219|ICD10:C41.4|UMLS:C0553580|Orphanet:319|EFO:0000174|UMLS:C3489398|MedDRA:10015560|ICD10:C41.2|ICD10:C40.2|ICD10:C41.3|ICD10:C40.1|UMLS:C0684337|NCIT:C4817|ONCOTREE:ES|DOID:0050608|Orphanet:2677|GARD:0006390 owl:Class MONDO:0010714 biolink:NamedThing Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD. tmpaxzxjjyw_mondo_relaxed.owl Pelizaeus-Merzbacher brain sclerosis|sudanophilic leukodystrophy, Paelizeus-Merzbacher type|leukodystrophy, hypomyelinating, 1|PMD|Pelizaeus Merzbacher brain sclerosis|leukodystrophy, sudanophilic|Sudanophilic leukodystrophy, Paelizeus-Merzbacher type|Pelizaeus Merzbacher disease|diffuse familial brain sclerosis|hypomyelinating leukodystrophy 1|Pelizaeus-Merzbacher disease|HLD1 DOID:3210|ICD10:E75.2|SCTID:64855000|OMIM:312080|NCIT:C75487|MedDRA:10067610|GARD:0004265|MESH:D020371|Orphanet:702|OMIM:213900|UMLS:C0205711 https://rarediseases.info.nih.gov/diseases/4265/pelizaeus-merzbacher-disease owl:Class MONDO:0000337 biolink:NamedThing exanthema subitum An infection that is due to human herpesvirus (HHV) types 6 or 7; it is characterized by 3-5 days of high fever followed by the acute onset of a rosy, pink, non-pruritic, macular rash that is predominantly on the neck and trunk. tmpaxzxjjyw_mondo_relaxed.owl sixth disease|roseola|exanthem subitum|pseudorubella|roseola Infantum SCTID:54385001|UMLS:C0595993|ICD9:057.8|ICD9:058.1|MESH:D005077|NCIT:C128420|EFO:1001320|ICD10:B08.2|ICD10:B08.20|ICD9:058.10|UMLS:C0015231|DOID:0050495 owl:Class HGNC:25382 biolink:NamedThing TMEM126A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022734 biolink:NamedThing chorioretinopathy dominant form microcephaly tmpaxzxjjyw_mondo_relaxed.owl GARD:0001308 https://rarediseases.info.nih.gov/diseases/1308/chorioretinopathy-dominant-form-microcephaly owl:Class MONDO:0016000 biolink:NamedThing familial isolated hypoparathyroidism due to impaired PTH secretion tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200646|Orphanet:189466|OMIM:146200|ICD10:E20.8 owl:Class MONDO:0007796 biolink:NamedThing hypoparathyroidism, familial isolated 1 tmpaxzxjjyw_mondo_relaxed.owl hypoparathyroidism, autosomal dominant|FIH1|FIH|hypoparathyroidism, familial isolated 1|hypoparathyroidism, autosomal recessive|hypoparathyroidism familial isolated|hypoparathyroidism, familial isolated Orphanet:189466|OMIM:146200|UMLS:C1832648|SCTID:237657009|Orphanet:2238 owl:Class HGNC:20340 biolink:NamedThing PRICKLE2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0100026 biolink:NamedThing positive regulation of DNA repair by transcription from RNA polymerase II promoter Any transcription from RNA polymerase II promoter process that positively regulates DNA repair. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006366 biolink:NamedThing transcription by RNA polymerase II The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). tmpaxzxjjyw_mondo_relaxed.owl general transcription from RNA polymerase II promoter|transcription from Pol II promoter|gene-specific transcription from RNA polymerase II promoter|specific transcription from RNA polymerase II promoter|RNA polymerase II transcription factor activity|transcription from RNA polymerase II promoter owl:Class CL:0011007 biolink:NamedThing paraxial cell A cell in the area of mesoderm in the neurulating embryo that flanks and forms simultaneously with the neural tube. The cells of this region give rise to somites. tmpaxzxjjyw_mondo_relaxed.owl presomitic mesoderm cell|somitic mesoderm cell|paraxial mesoderm cell owl:Class CL:0000222 biolink:NamedThing mesodermal cell A cell of the middle germ layer of the embryo. tmpaxzxjjyw_mondo_relaxed.owl mesoblast|mesoderm cell FMA:72554 cell owl:Class UBERON:0018145 biolink:NamedThing lumbar rib tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002228 biolink:NamedThing rib tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016426 biolink:NamedThing proximal interphalangeal joint of little finger tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009767 biolink:NamedThing proximal interphalangeal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:163 biolink:NamedThing ACTN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000833 biolink:NamedThing bone remodeling disease A bone disease that results in formation or resorption abnormalities located in bone. tmpaxzxjjyw_mondo_relaxed.owl DOID:0080005 owl:Class OBO:CHR_9606-chr1q4 biolink:NamedThing 1q4 (Human) tmpaxzxjjyw_mondo_relaxed.owl 248956422 214400000 hg38 owl:Class MONDO:0013997 biolink:NamedThing focal facial dermal dysplasia type IV Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions. tmpaxzxjjyw_mondo_relaxed.owl focal facial preauricular dysplasia|FFDD4|focal facial dermal dysplasia 4|focal Facial dermal dysplasia type 4|FFDD type IV Orphanet:398166|UMLS:C3554246|ICD10:Q82.8|OMIM:614974|Orphanet:398189 owl:Class MONDO:0018363 biolink:NamedThing focal facial dermal dysplasia Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies. tmpaxzxjjyw_mondo_relaxed.owl FFDD OMIM:227260|ICD10:Q82.8|OMIM:136500|OMIM:614974|OMIMPS:136500|OMIM:614973|Orphanet:398166 owl:Class MONDO:0006028 biolink:NamedThing cecum adenocarcinoma A carcinoma that arises from glandular epithelial cells of the caecum tmpaxzxjjyw_mondo_relaxed.owl cecum adenocarcinoma|adenocarcinoma of cecum|caecum adenocarcinoma|cecal adenocarcinoma|adenocarcinoma of the cecum SCTID:413446001|NCIT:C5543|EFO:1000020|DOID:3039|UMLS:C1332866 owl:Class MONDO:0002271 biolink:NamedThing colon adenocarcinoma A carcinoma that arises from glandular epithelial cells of the colon tmpaxzxjjyw_mondo_relaxed.owl COAD|adenocarcinoma of colon|adenocarcinoma of the colon|colonic adenocarcinoma|adenocarcinoma - colon|colon adenocarcinoma DOID:234|UMLS:C0338106|NCIT:C4349|EFO:1001949|ONCOTREE:COAD owl:Class HGNC:91 biolink:NamedThing ACADSB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016745 biolink:NamedThing diffuse leptomeningeal melanocytosis Diffuse leptomeningeal melanocytosis is a rare tumor of meninges arising from leptomeningeal melanocytes, characterized by diffuse infiltration of the leptomeninges (pia mater and arachnoidea) anywhere in the central nervous system. Clinical features may include stillbirth, intracranial hypertension and hydrocephalus, seizure, ataxia, syringomyelia, cranial nerve palsy, intracranial haemorrhage, sphincter dysfunction and neuropsychiatric symptoms. Transformation into malignant melanoma of the central nervous system was reported. It may be associated with congenital nevi, as a part of neurocutaneous melanosis. tmpaxzxjjyw_mondo_relaxed.owl leptomeningeal melanomatosis|DLM Orphanet:252031 owl:Class MONDO:0016744 biolink:NamedThing primary melanocytic tumor of central nervous system tmpaxzxjjyw_mondo_relaxed.owl primary melanocytic tumor of CNS|primary melanocytic lesion of CNS|primary melanocytic lesion of central nervous system UMLS:CN201991|Orphanet:252028 owl:Class MONDO:0019898 biolink:NamedThing distal monosomy 14q Distal monosomy 14q is a rare chromosomal anomaly associated with various phenotypic features depending on the size of the deletion. The clinical features may include global developmental delay, hypotonia, congenital heart defects, dysmorphic features (high forehead, small palpebral fissures, epicanthi, blepharophimosis, broad and flat nasal bridge, broad philtrum, thin upper lip, high arched palate, pointed chin, malformed ears). High-pitched, weak cry, seizures and various dental and oftalmological anomalies were also reported. tmpaxzxjjyw_mondo_relaxed.owl distal monosomy type 14q|distal deletion 14q|telomeric deletion 14q Orphanet:96150|ICD10:Q93.5 owl:Class MONDO:0016912 biolink:NamedThing partial deletion of the long arm of chromosome 14 Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. tmpaxzxjjyw_mondo_relaxed.owl 14q monosomy|14q deletion|partial monosomy of chromosome 14q|partial deletion of chromosome 14q|partial monosomy 14q|partial monosomy of the long arm of chromosome 14|chromosome 14q deletion|partial deletion of the long arm of chromosome type 14|deletion 14q|monosomy 14q Orphanet:262110|ICD10:Q93.5|GARD:0003722 owl:Class HGNC:8926 biolink:NamedThing PHKA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:48210 biolink:NamedThing cyclopentafurofurochromene tmpaxzxjjyw_mondo_relaxed.owl cyclopentafurofurochromenes owl:Class MONDO:0014271 biolink:NamedThing STT3B-CDG STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1). tmpaxzxjjyw_mondo_relaxed.owl CDG-Ix|congenital disorder of glycosylation type IX|congenital disorder of glycosylation, type IX|congenital disorder of glycosylation type 1x|CDG syndrome type IX|CDG1X|CDG IX|carbohydrate deficient glycoprotein syndrome type IX Orphanet:370924|DOID:0080573|OMIM:615597|UMLS:C2931007|MESH:C535751|ICD10:E77.8|SCTID:733112007 owl:Class MONDO:0005500 biolink:NamedThing congenital disorder of glycosylation type I A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. tmpaxzxjjyw_mondo_relaxed.owl ALG9-CDG (CDG-1l)|DOLK-CDG|DPM3-CDG|ALG1-CDG|DPM2-CDG (CDG-1u)|MPI-CDG (CDG-1b)|DPM2-CDG|DPM1-CDG|DOLK-CDG (CDG-1m)|ALG1-CDG (CDG-1k)|ALG12-CDG|ALG11-CDG|RFT1-CDG (CDG-1n)|DPM3-CDG (CDG-1o)|ALG8-CDG|ALG11-CDG (CDG-1p)|ALG9-CDG|DPAGT1-CDG|ALG2-CDG|SRD5A3-CDG (CDG-1q)|PMM2-CDG (CDG-1a)|DPAGT1-CDG (CDG-1j)|PMM2-CDG|ALG8-CDG (CDG-1h)|ALG6-CDG (CDG-1c)|ALG3-CDG (CDG-1d)|SRD5A3-CDG|ALG6-CDG|RFT1-CDG|MPDU1-CDG|ALG2-CDG (CDG-1i)|MPI-CDG|ALG3-CDG|ALG12-CDG (CDG-1g)|congenital disorders of glycosylation, type I|MPDU1-CDG (CDG-1f)|DPM1-CDG (CDG-1e) DOID:0050570|OMIMPS:212065|EFO:0005545 owl:Class MONDO:0008783 biolink:NamedThing Tangier disease Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults. tmpaxzxjjyw_mondo_relaxed.owl familial high density lipoprotein deficiency|cholesterol thesaurismosis|HDLDT1|Alpha high density lipoprotein deficiency disease|familial Hypoalphalipo-proteinemia|Analphalipo-proteinemia|Tangier disease|Analphalipoproteinemia|defective adenosine triphosphate-binding cassette transporter A1|tgd|familial alpha-lipoprotein deficiency|familial high density lipoprotein deficiency disease|high density lipoprotein deficiency, Tangier type|ATP-binding cassette transporter A1 deficiency|A-alphalipoprotein neuropathy|high density lipoprotein deficiency, type 1|HDL lipoprotein deficiency disease NCIT:C85182|GARD:0007731|ICD10:E78.6|UMLS:C0039292|Orphanet:31150|DOID:1388|MESH:D013631|MedDRA:10051875|SCTID:723579009|OMIM:205400 owl:Class MONDO:0001822 biolink:NamedThing hypolipoproteinemia Conditions with abnormally low levels of lipoproteins in the blood. This may involve any of the lipoprotein subclasses, including alpha-lipoproteins (high-density lipoproteins); beta-lipoproteins (low-density lipoproteins); and prebeta-lipoproteins (very-low-density lipoproteins). tmpaxzxjjyw_mondo_relaxed.owl hypolipoproteinaemia|hypolipoproteinemia|lipoprotein deficiencies|hypolipoproteinemia (disease) hypolipoproteinemia (disease) DOID:1387|ICD10:E78.6|MESH:D007009|ICD9:272.5|SCTID:363140000|HP:0010981|GARD:0008394 owl:Class MONDO:0010920 biolink:NamedThing microtia Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal. tmpaxzxjjyw_mondo_relaxed.owl anotia|microtia, congenital|microtias, congenital|microtia-anotia|M-A|congenital microtias Orphanet:93976|MESH:C537772|ICD9:744.23|GARD:0000431|OMIM:600674|SCTID:35045004|ICD10:Q17.2|Orphanet:83463|OMIM:128800|MedDRA:10027555|MESH:D065817 owl:Class MONDO:0019755 biolink:NamedThing developmental defect during embryogenesis A disease that has its basis in the disruption of embryonic morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl developmental defect during embryogenesis|congenital malformation syndrome|disorder of embryonic morphogenesis|embryonic morphogenesis disease|rare developmental defect during embryogenesis|malformation syndrome Orphanet:93890|UMLS:CN206687|SCTID:400038003|UMLS:C1302790|NCIT:C99267|ICD9:759.7 owl:Class MONDO:0042605 biolink:NamedThing Y chromosome infertility due to DAZ1 deletion tmpaxzxjjyw_mondo_relaxed.owl deleted in azoospermia|Y chromosome microdeletions|DAZ|Y chromosome infertility|male sterility due to Y-chromosome deletions HGNC:2682|GARD:0000185 owl:Class UBERON:0001869 biolink:NamedThing cerebral hemisphere tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011445 biolink:NamedThing hereditary spastic paraplegia 11 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the SPG11 gene. tmpaxzxjjyw_mondo_relaxed.owl HSP-TCC|Nakamura Osame syndrome|spastic paraplegia-intellectual disability-thin corpus callosum syndrome|Nakamura-Osame syndrome|hereditary spastic paraplegia type 11|spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum|hereditary spastic paraplegia caused by mutation in SPG11|SPG11|autosomal recessive spastic paraplegia complicated with thin corpus callosum|autosomal recessive spastic paraplegia 11|spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum|autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum|spastic paraplegia - intellectual deficit - thin corpus callosum|hereditary spastic paraplegia mental impairment and thin corpus callosum|spastic paraplegia 11, autosomal recessive|spastic paraplegia 11|SPG11 hereditary spastic paraplegia|autosomal recessive spastic paraplegia type 11 DOID:0110764|OMIM:604360|SCTID:715491000|GARD:0004919|Orphanet:2822|NCIT:C148317|ICD10:G11.4 owl:Class MONDO:0011722 biolink:NamedThing intellectual disability-obesity-prognathism-eye and skin anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, obesity, mandibular prognathism, and eye and skin anomalies|MOMES syndrome|mental retardation, obesity, mandibular prognathism, and eye and skin anomalies|Momes syndrome Orphanet:397973|MESH:C564660|ICD10:Q87.8|UMLS:C1847522|OMIM:606772 owl:Class MONDO:0023043 biolink:NamedThing ectodermal dysplasia alopecia preaxial polydactyly tmpaxzxjjyw_mondo_relaxed.owl absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance UMLS:C2931691|GARD:0002040|MESH:C538016 https://rarediseases.info.nih.gov/diseases/2040/ectodermal-dysplasia-alopecia-preaxial-polydactyly owl:Class CHEBI:53309 biolink:NamedThing polyanionic macromolecule A polymer carrying multiple negative charges. tmpaxzxjjyw_mondo_relaxed.owl polyanions|polyanion owl:Class CHEBI:53368 biolink:NamedThing ionic macromolecule A macromolecule containing ionic groups. tmpaxzxjjyw_mondo_relaxed.owl polyionic macromolecule|ionic polymer owl:Class GO:0006521 biolink:NamedThing regulation of cellular amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids. tmpaxzxjjyw_mondo_relaxed.owl regulation of amino acid metabolism owl:Class GO:0045821 biolink:NamedThing positive regulation of glycolytic process Any process that activates or increases the frequency, rate or extent of glycolysis. tmpaxzxjjyw_mondo_relaxed.owl activation of glycolysis|stimulation of glycolysis|up regulation of glycolysis|upregulation of glycolysis|up-regulation of glycolysis owl:Class GO:0045913 biolink:NamedThing positive regulation of carbohydrate metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate. tmpaxzxjjyw_mondo_relaxed.owl stimulation of carbohydrate metabolic process|up-regulation of carbohydrate metabolic process|positive regulation of carbohydrate metabolism|activation of carbohydrate metabolic process|upregulation of carbohydrate metabolic process|up regulation of carbohydrate metabolic process owl:Class MONDO:0007792 biolink:NamedThing familial hypocalciuric hypercalcemia 2 A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13. tmpaxzxjjyw_mondo_relaxed.owl hypocalciuric hypercalcemia, familial, type 2|familial benign hypercalcemia, type 2|FBH2|hypocalciuric hypercalcemia type II|hypercalcemia, familial benign type 2|hypercalcemia, familial benign, type 2|FHH type 2|familial hypocalciuric hypercalcemia type 2|HHC2|hypocalciuric hypercalcemia, familial, type II MESH:C537146|GARD:0009758|ICD10:E83.5|DOID:0060701|OMIM:145981|Orphanet:405|UMLS:C1840347|Orphanet:101049 owl:Class MONDO:0018458 biolink:NamedThing familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. tmpaxzxjjyw_mondo_relaxed.owl hypocalciuric hypercalcemia|FHH|familial benign hypocalciuric hypercalcemia|familial benign hypercalcemia|FBH|FBHH OMIM:145981|Orphanet:405|NCIT:C123262|SCTID:237885008|GARD:0010828|UMLS:C1809471|OMIMPS:145980|ICD10:E83.5|DOID:0060699|UMLS:C0342637|OMIM:145980|OMIM:600740 owl:Class GO:0002507 biolink:NamedThing tolerance induction A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051464 biolink:NamedThing positive regulation of cortisol secretion Any process that activates or increases the frequency, rate or extent of the regulated release of cortisol from a cell. tmpaxzxjjyw_mondo_relaxed.owl upregulation of cortisol secretion|activation of cortisol secretion|up regulation of cortisol secretion|up-regulation of cortisol secretion|stimulation of cortisol secretion owl:Class MONDO:0005033 biolink:NamedThing ganglioneuroma A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray. tmpaxzxjjyw_mondo_relaxed.owl GN|ganglioneuroma (Schwannian Stroma-dominant)|neural Crest tumor, benign|ganglioneuroma (disease)|ganglioneuroma, benign|ganglioneuroma ganglioneuroma (disease) DOID:4817|NCIT:C3049|Orphanet:251992|UMLS:C0017075|HP:0003005|MESH:D005729|NIFSTD:birnlex_12617|ONCOTREE:GN|SCTID:116371000119107|ICD9:215.9|EFO:0000500|ICDO:9490/0|MedDRA:10017709|ICD10:D36.1 owl:Class MONDO:0044993 biolink:NamedThing sympathetic nervous system disorder A disease or disorder that involves the sympathetic nervous system. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of sympathetic nervous system|disorder of sympathetic nervous system|sympathetic nervous system disease|sympathetic nervous system disease or disorder|disease of sympathetic nervous system SCTID:50330009 owl:Class MONDO:0019341 biolink:NamedThing tuberous sclerosis complex A neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features. tmpaxzxjjyw_mondo_relaxed.owl Bourneville syndrome|Bourneville's syndrome|tuberous sclerosis OMIM:613254|GARD:0000946|GARD:0007830|OMIM:191100|Orphanet:805|ICD10:Q85.1|MedDRA:10045138 owl:Class MONDO:0015477 biolink:NamedThing pinnae fistula or cyst Pinnae fistula or cyst is a rare otorhinolaryngological malformation characterized by the presence of a, usually unilateral, sinus tract or cyst located in the vicinity of the auricle (most frequently identified by a small pit near the anterior margin of the first ascending portion of the helix). Typically, patients are asymptomatic and usually only present symptoms (pain, erythema, discharge from pit) in relation to infection. Renal and inner ear anomalies may be associated. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q18.8|Orphanet:155838 owl:Class MONDO:0012559 biolink:NamedThing primary immunodeficiency syndrome due to p14 deficiency Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency due to defect in Mapbp-interacting Protein|immunodeficiency due to defect in MAPBP-interacting PROTEIN|primary immunodeficiency syndrome with short stature|primary immunodeficiency syndrome due to LAMTOR2 deficiency MESH:C563663|ICD10:D82.8|UMLS:C1835829|SCTID:718717004|UMLS:C4305256|OMIM:610798|Orphanet:90023 owl:Class MONDO:0009069 biolink:NamedThing congenital lactic acidosis, Saguenay-Lac-Saint-Jean type Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. tmpaxzxjjyw_mondo_relaxed.owl Cox deficiency, Saguenay-Lac-Saint-Jean type|Leigh syndrome, French-Canadian type|cytochrome C oxidase deficiency, French-Canadian type|Leigh syndrome, Saguenay-Lac-Saint-Jean type|congenital lactic acidosis, Saguenay-Lac-Saint-Jean type|cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type|Leigh syndrome, Saguenay Lac saint Jean type|cytochrome C oxidase deficiency, French Canadian type|SLSJ-COX deficiency|COX deficiency, French-Canadian type|Cox deficiency, Saguenay Lac saint Jean type|Cox deficiency, French Canadian type|LSFC|Leigh syndrome, French Canadian type ICD10:G31.8|OMIM:220111|SCTID:718219002|Orphanet:70472|Orphanet:506|MESH:C537004|GARD:0008370 owl:Class MONDO:0019518 biolink:NamedThing Waardenburg-Shah syndrome Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease. tmpaxzxjjyw_mondo_relaxed.owl WS4|Waardenburg syndrome type IV|Shah-Waardenburg syndrome|Waardenburg-Hirschsprung disease|Waardenburg syndrome type 4|Waardenburg-Shah syndrome|Waardenburg-Hirschsprung syndrome|Hirschsprung disease with pigmentary anomaly OMIM:613266|Orphanet:897|OMIM:613265|NCIT:C124842|OMIM:277580|GARD:0005524|ICD10:Q87.8|UMLS:CN206330 https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4 owl:Class MONDO:0018094 biolink:NamedThing Waardenburg syndrome Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes. tmpaxzxjjyw_mondo_relaxed.owl van der Hoeve Halbertsona Waardenburg syndrome|Waardenburg's syndrome|Mende syndrome|Waardenburg Shah syndrome|Waardenburg syndrome|Waardenburg, types I and/or II|Van der Hoeve Halbertsma Waardenburg Gualdi syndrome OMIM:608890|NCIT:C85222|NCIT:C75008|OMIM:606662|OMIM:600193|Orphanet:3440|GARD:0005525|OMIM:611584|MedDRA:10069203|OMIMPS:193500|OMIM:193500|SCTID:715952000|Orphanet:895|ICD10:E70.3|DOID:9258|OMIM:148820|OMIM:193510|UMLS:C1847800 owl:Class UBERON:0001040 biolink:NamedThing yolk sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7190 biolink:NamedThing MOCS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012897 biolink:NamedThing congenital factor XI deficiency Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. tmpaxzxjjyw_mondo_relaxed.owl hereditary factor XI deficiency|hereditary Factor XI deficiency|Rosenthal syndrome|factor XI deficiency|plasma thromboplastin antecedent deficiency|Rosenthal's disease|hemophilia C|PTA deficiency|factor 11 deficiency|hereditary factor XI deficiency disease|F11 deficiency|congenital factor XI deficiency|Rosenthal factor deficiency Orphanet:329|MESH:D005173|SCTID:49762007|UMLS:C0015523|NCIT:C84705|ICD9:286.2|ICD10:D68.1|DOID:2229|GARD:0009670|OMIM:612416 https://rarediseases.info.nih.gov/diseases/9670/factor-xi-deficiency owl:Class MONDO:0000429 biolink:NamedThing autosomal genetic disease A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. tmpaxzxjjyw_mondo_relaxed.owl autosomal inherited disease|autosomal hereditary disorder|autosomal inherited disorder DOID:0050739|SCTID:1899006|UMLS:C0265384|ICD9:758.5 owl:Class UBERON:0003123 biolink:NamedThing pharyngeal arch artery 6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004363 biolink:NamedThing pharyngeal arch artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012698 biolink:NamedThing Waardenburg syndrome type 2E Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene. tmpaxzxjjyw_mondo_relaxed.owl WS2E with or without neurological involvement|Waardenburg syndrome type 2 caused by mutation in SOX10|SOX10 Waardenburg syndrome type 2|Waardenburg syndrome type 2E with or without neurologic involvement|hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|Ws2E, with or without neurologic involvement|Waardenburg syndrome, type 2E|Waardenburg syndrome, type 2E, with or without neurologic involvement|hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation|Waardenburg syndrome type IIE|WS2E DOID:0110956|Orphanet:3440|OMIM:611584|Orphanet:895|UMLS:C2700405 owl:Class MONDO:0019517 biolink:NamedThing Waardenburg syndrome type 2 Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum. tmpaxzxjjyw_mondo_relaxed.owl WS 2|WS type 2|Waardenburg syndrome type 2|Waardenburg syndrome type II|WS2 OMIM:606662|OMIM:611584|Orphanet:895|ICD10:E70.3|UMLS:C2700265|OMIM:193510|OMIM:608890|MESH:C536463|GARD:0005520|NCIT:C75009|OMIM:600193 https://rarediseases.info.nih.gov/diseases/5520/waardenburg-syndrome-type-2 owl:Class GO:0098590 biolink:NamedThing plasma membrane region A membrane that is a (regional) part of the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl region of plasma membrane owl:Class GO:0016020 biolink:NamedThing membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. tmpaxzxjjyw_mondo_relaxed.owl region of membrane|membrane region|whole membrane owl:Class MONDO:0012277 biolink:NamedThing myofibrillar myopathy 4 Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases. tmpaxzxjjyw_mondo_relaxed.owl myopathy, myofibrillar, 4|ZASP-related myofibrillar myopathy|myopathy, myofibrillar, type 4|myofibrillar myopathy (disease) caused by mutation in LDB3|late-onset distal myopathy, Markesbery-Griggs type|myofibrillar myopathy type 4|zaspopathy|LDB3 myofibrillar myopathy (disease)|MFM4 GARD:0001886|MESH:C563718|Orphanet:98912|ICD10:G71.8|UMLS:C1836155|DOID:0080095|OMIM:609452 owl:Class MONDO:0018943 biolink:NamedThing myofibrillar myopathy Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients. tmpaxzxjjyw_mondo_relaxed.owl filaminopathy (type)|desmin storage myopathy (former name)|myofibrillar myopathies|myofibrillar myopathy (disease)|Desminopathy (type)|myofibrillar myopathy|Protein surplus myopathy (former name)|Zaspopathy (type)|Alpha Beta crystallinopathy (type)|desmin related myopathy (former name)|myotilinopathy (type) myofibrillar myopathy (disease) HP:0003715|UMLS:C2678065|OMIMPS:601419|DOID:0080307|SCTID:699269005|MESH:C580316|ICD9:359.89|ICD10:G71.8|Orphanet:593|NCIT:C83009|GARD:0010529 owl:Class MONDO:0002522 biolink:NamedThing tenosynovial giant cell tumor A tumor usually arising in the synovium of joints, bursa or tendon sheath. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. According to the growth pattern, it is classified as localized or diffuse. tmpaxzxjjyw_mondo_relaxed.owl tenosynovial giant cell tumor|giant cell tumor of tendon sheath|giant cell tumor of Tenosynovium|giant cell neoplasm of Tenosynovium|giant cell neoplasm of tendon sheath|fibrous histiocytoma of tendon sheath|giant cell neoplasm of the Tenosynovium|tendon sheath giant cell neoplasm|tendon sheath giant cell tumor|giant cell tumor of the Tenosynovium|tenosynovial giant cell neoplasm ICDO:9252/0|ICD9:727.89|ICD9:727.02|NCIT:C3402|SCTID:310605004|UMLS:C1318543|SCTID:95413004|DOID:314|EFO:1000562 owl:Class CHEBI:57977 biolink:NamedThing bilirubin(2-) A dicarboxylic acid dianion obtained by deprotonation of the two carboxy groups of bilirubin; major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl bilirubin IXalpha|2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoate|bilirubin dianion owl:Class CHEBI:59252 biolink:NamedThing linear tetrapyrrole anion An organic anion arising from deprotonation of a acyclic tetrapyrrole compound. tmpaxzxjjyw_mondo_relaxed.owl linear tetrapyrrole anions|acyclic tetrapyrrole anion|acyclic tetrapyrrole anions owl:Class GO:0043903 biolink:NamedThing regulation of biological process involved in symbiotic interaction Any process that modulates the frequency, rate or extent of symbiosis, an interaction between two organisms living together in more or less intimate association. tmpaxzxjjyw_mondo_relaxed.owl regulation of symbiosis, encompassing mutualism through parasitism|regulation of symbiotic process|regulation of interspecies interactions between organisms owl:Class MONDO:0009613 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia type cblA An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein. tmpaxzxjjyw_mondo_relaxed.owl methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type|methylmalonic aciduria cblA type|cobalamin locus B variant|cblA methylmalonic acidemia|methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type|cblB methylmalonic acidemia|cobalamin locus A variant|cblB - cobalamin locus b|methylmalonic acidemia cblA type|cobalamin B disease|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type|vitamin B12-responsive methylmalonic acidemia type cblA|cblA - cobalamin locus a|vitamin B12-responsive methylmalonic aciduria type cblA|methylmalonic acidemia, cblA type|MMA Cbl A type|methylmalonic aciduria, cblA type|cobalamin A disease ICD10:E71.1|OMIM:251100|UMLS:C1855109|Orphanet:79310|DOID:0060742|SCTID:82245003|NCIT:C142171|Orphanet:28|SCTID:73843004|UMLS:C0342721|GARD:0005500|UMLS:C0342722 owl:Class MONDO:0008203 biolink:NamedThing Passovoy factor defect tmpaxzxjjyw_mondo_relaxed.owl Passovoy factor defect UMLS:C3149707|OMIM:168830 owl:Class MONDO:0001712 biolink:NamedThing alexia A receptive visual aphasia characterized by the loss of a previously possessed ability to comprehend the meaning or significance of handwritten words, despite intact vision. This condition may be associated with posterior cerebral artery infarction (infarction, posterior cerebral artery) and other brain diseases. tmpaxzxjjyw_mondo_relaxed.owl acquired reading disabilities|Blindnesses, acquired Word|dyslexia, acquired global|acquired global dyslexia|dyslexia, acquired spelling|Word blindness, acquired|acquired Word blindness|alexia, acquired|blindness, acquired Word|acquired dyslexia|aphemesthaesia|acquired Word Blindnesses|acquired reading disability|global dyslexia, acquired|disabilities, acquired reading|reading disabilities, acquired|acquired spelling dyslexia|Word Blindnesses, acquired|acquired alexia|spelling dyslexia, acquired|reading disability, acquired|disability, acquired reading MESH:D004411|ICD9:315.01|DOID:13417 owl:Class MONDO:0000685 biolink:NamedThing visual agnosia An inability to recognize or interpret objects by sight. tmpaxzxjjyw_mondo_relaxed.owl visual agnosia|visual agnosia (disease)|visuoperceptual agnosia visual agnosia (disease) SCTID:25762009|HP:0030222|NCIT:C35276|DOID:0060155 owl:Class HGNC:9752 biolink:NamedThing QDPR tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0010009 biolink:NamedThing camera-type eye photoreceptor cell tmpaxzxjjyw_mondo_relaxed.owl camera type eye photoreceptor cell owl:Class CL:0000210 biolink:NamedThing photoreceptor cell A cell specialized to detect and transduce light. tmpaxzxjjyw_mondo_relaxed.owl BTO:0001060|FBbt:00004211|CALOHA:TS-0868|FMA:86740 cell owl:Class MONDO:0007720 biolink:NamedThing hernia, double inguinal tmpaxzxjjyw_mondo_relaxed.owl hernia, double inguinal MESH:C563164|OMIM:142350|UMLS:C0860251 owl:Class HGNC:30185 biolink:NamedThing CRBN tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000155 biolink:NamedThing positive regulation of cilium-dependent cell motility Any process that activates or increases the frequency, rate or extent of cilium-dependent cell motility. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of ciliary cell motility owl:Class GO:1902019 biolink:NamedThing regulation of cilium-dependent cell motility Any process that modulates the frequency, rate or extent of cilium-dependent cell motility. tmpaxzxjjyw_mondo_relaxed.owl regulation of cilium cell motility|regulation of ciliary cell motility owl:Class MONDO:0007514 biolink:NamedThing ectopia lentis 1, isolated, autosomal dominant Any isolated ectopia lentis in which the cause of the disease is a mutation in the FBN1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant isolated ectopia lentis 1|isolated ectopia lentis caused by mutation in FBN1|ectopia lentis 1, isolated, autosomal dominant|FBN1 isolated ectopia lentis|ECTOL1 url:https://www.ncbi.nlm.nih.gov/pubmed/15054843|OMIM:129600|DOID:0111150|UMLS:C3541518|Orphanet:1885 owl:Class GO:0032413 biolink:NamedThing negative regulation of ion transmembrane transporter activity Any process that stops or reduces the activity of an ion transporter. tmpaxzxjjyw_mondo_relaxed.owl downregulation of ion transporter activity|down regulation of ion transporter activity|inhibition of ion transporter activity|down-regulation of ion transporter activity|negative regulation of ion transporter activity owl:Class MONDO:0006374 biolink:NamedThing placental choriocarcinoma Choriocarcinoma that develops in the placenta. It is the rarest form of gestational choriocarcinoma. Metastases to the mother and infant may occur. tmpaxzxjjyw_mondo_relaxed.owl placenta choriocarcinoma (disease)|placental choriocarcinoma|placenta choriocarcinoma|choriocarcinoma of the placenta|choriocarcinoma of placenta UMLS:C0855173|SCTID:448401007|NCIT:C8893|DOID:2024|EFO:1000479 owl:Class MONDO:0020550 biolink:NamedThing gestational choriocarcinoma Gestational choriocarcinoma is a gestational trophoblastic tumor (GTT) occurring secondary to pregnancy (ectopic or normal), miscarriage, voluntary termination of pregnancy (VTP) or a hydatidiform mole. tmpaxzxjjyw_mondo_relaxed.owl gestational chorionepithelioma|molar pregnancy with choriocarcinoma|gestational choriocarcinoma (morphologic abnormality)|gestational choriocarcinoma DOID:2025|ICD9:181|NCIT:C4646|SCTID:417570003|Orphanet:99926|UMLS:C0349557|ICD10:C58 owl:Class MONDO:0009620 biolink:NamedThing Say-Barber-Miller syndrome Say-Barber-Miller syndrome is characterised by the association of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. tmpaxzxjjyw_mondo_relaxed.owl Say Barber Miller syndrome|microcephaly-hypogammaglobulinemia-abnormal immunity syndrome|microcephaly with chemotactic defect and transient hypogammaglobulinemia|microcephaly hypogammaglobulinemia abnormal immunity Orphanet:3132|ICD10:Q87.8|MESH:C536618|GARD:0000239|OMIM:251240|SCTID:721903007 https://rarediseases.info.nih.gov/diseases/239/say-barber-miller-syndrome owl:Class MONDO:0017915 biolink:NamedThing pure or complex autosomal recessive spastic paraplegia tmpaxzxjjyw_mondo_relaxed.owl Pure or complicated autosomal recessive spastic paraplegia Orphanet:320346|ICD10:G11.4 owl:Class UBERON:0003707 biolink:NamedThing sinus of Valsalva tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35555 biolink:NamedThing mancude organic heteromonocyclic parent tmpaxzxjjyw_mondo_relaxed.owl mancude-ring organic heteromonocyclic parents|mancude organic heteromonocyclic parents owl:Class CHEBI:35571 biolink:NamedThing mancude organic heterocyclic parent tmpaxzxjjyw_mondo_relaxed.owl mancude-ring organic heterocyclic parents|mancude organic heterocyclic parents owl:Class MONDO:0003958 biolink:NamedThing childhood central nervous system immature teratoma An immature teratoma that arises from the central nervous system and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood central nervous system immature teratoma|pediatric central nervous system immature teratoma|central nervous system immature teratoma of childhood UMLS:C1332954|NCIT:C27405|DOID:6654 owl:Class GO:0032890 biolink:NamedThing regulation of organic acid transport Any process that modulates the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000272 biolink:NamedThing negative regulation of signaling receptor activity Any process that stops, prevents or reduces the frequency, rate or extent of a signaling receptor activity. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of signalling receptor activity|negative regulation of receptor activity owl:Class GO:0010469 biolink:NamedThing regulation of signaling receptor activity Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity. tmpaxzxjjyw_mondo_relaxed.owl regulation of signalling receptor activity|regulation of receptor activity owl:Class UBERON:0001490 biolink:NamedThing elbow joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014558 biolink:NamedThing autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome|autosomal dominant intellectual disability 32|intellectual disability, autosomal dominant type 32|autosomal dominant mental retardation 32|intellectual disability, autosomal dominant 32|autosomal dominant non-syndromic intellectual disability 32|mental retardation, autosomal dominant type 32|mental retardation, autosomal dominant 32|KAT6A Syndrome|MRD32 DOID:0070062|Orphanet:457193|OMIM:616268 owl:Class MONDO:0004422 biolink:NamedThing cerebral falx meningioma A meningioma that affects the falx cerebri. tmpaxzxjjyw_mondo_relaxed.owl meningioma of falx cerebri|meningioma of cerebral falx|meningioma (disease) of falx cerebri|falx cerebri meningioma (disease)|Falcine meningioma|meningioma of the falx cerebri|falx cerebri meningioma|meningioma of falx of cerebrum|meningioma of the cerebral falx|meningioma of the falx of the cerebrum NCIT:C5267|UMLS:C1333597|DOID:7986 owl:Class MONDO:0002997 biolink:NamedThing anterior cranial fossa meningioma A meningioma that affects the anterior cranial fossa. tmpaxzxjjyw_mondo_relaxed.owl meningioma of anterior fossa|meningioma of the anterior fossa|meningioma of anterior cranial fossa|anterior cranial fossa meningioma (disease)|meningioma of the anterior cranial fossa|anterior fossa meningioma|meningioma (disease) of anterior cranial fossa UMLS:C1332301|DOID:4436|NCIT:C5286 owl:Class HGNC:30836 biolink:NamedThing POC1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003690 biolink:NamedThing fused sacrum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008001 biolink:NamedThing irregular bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007442 biolink:NamedThing dentinogenesis imperfecta type 3 Dentinogenesis imperfecta type 3 (DGI-3) is a rare, severe form of dentinogenesis imperfecta (DGI) characterized by opalescent primary and permanent teeth, marked attrition, large pulp chambers, multiple pulp exposure and shell teeth radiographically (i.e. teeth which appear hollow due to dentin hypotrophy). tmpaxzxjjyw_mondo_relaxed.owl dentinogenesis imperfecta type III|dentinogenesis imperfecta Shields type 3|dentinogenesis imperfecta, Shields type III|brandywine type dentinogenesis imperfecta|dentinogenesis imperfecta, Shields type 3|DGI-III ICD9:520.5|ICD10:K00.5|SCTID:234970006|OMIM:125500|Orphanet:166265|MESH:C538216|GARD:0010144 https://rarediseases.info.nih.gov/diseases/10144/dentinogenesis-imperfecta-type-3 owl:Class MONDO:0024356 biolink:NamedThing primary central sleep apnea syndrome tmpaxzxjjyw_mondo_relaxed.owl primary central sleep apnea ICD9:327.21|ICD10:G47.31|SCTID:9741000119101|UMLS:C0751762 owl:Class UBERON:0004256 biolink:NamedThing hindlimb zeugopod muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001383 biolink:NamedThing muscle of leg tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019964 biolink:NamedThing thymic neuroendocrine tumor Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively. tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine neoplasm of thymus|thymus neuroendocrine tumor|thymus neuroendocrine neoplasm|thymus NET|thymus neuroendocrine tumor, well differentiated, low or intermediate grade Orphanet:97289|UMLS:CN206887|ONCOTREE:TNET|ICD10:D38.4 owl:Class UBERON:0035642 biolink:NamedThing laryngeal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002236 biolink:NamedThing costal cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007844 biolink:NamedThing cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014528 biolink:NamedThing chronic atrial and intestinal dysrhythmia A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has material basis in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). tmpaxzxjjyw_mondo_relaxed.owl chronic atrial and intestinal dysrhythmia|chronic atrial dysrhythmia-intestinal motility disorder|caid|chronic atrial intestinal dysrhythmia syndrome|caid syndrome|chronic atrial and intestinal dysrhythmia syndrome|Cohesinopathy affecting heart and gut rhythm DOID:0060339|GARD:0012281|UMLS:C4015474|SCTID:720507006|Orphanet:435988|OMIM:616201|ICD10:K59.8 owl:Class CL:0000165 biolink:NamedThing neuroendocrine cell An endocrine cell that has the specialized function to produce and secrete hormones in response to neuronal signals. tmpaxzxjjyw_mondo_relaxed.owl neurosecretory cell BTO:0002691|FMA:83810 cell owl:Class CL:0000163 biolink:NamedThing endocrine cell A cell of an endocrine gland, ductless glands that secrete substances which are released directly into the circulation and which influence metabolism and other body functions. tmpaxzxjjyw_mondo_relaxed.owl endocrinocyte FMA:83809 cell owl:Class GO:0001649 biolink:NamedThing osteoblast differentiation The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. tmpaxzxjjyw_mondo_relaxed.owl osteoblast cell differentiation owl:Class GO:0051239 biolink:NamedThing regulation of multicellular organismal process Any process that modulates the frequency, rate or extent of a multicellular organismal process, the processes pertinent to the function of a multicellular organism above the cellular level; includes the integrated processes of tissues and organs. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013048 biolink:NamedThing hereditary spastic paraplegia 50 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spastic paraplegia 50|cerebral palsy, spastic quadriplegic, 3, formerly|cerebral palsy, spastic quadriplegic, 3|spastic paraplegia 50, autosomal recessive|SPG50|AP4M1 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in AP4M1|spastic quadriplegic cerebral palsy 3|hereditary spastic paraplegia type 50 Orphanet:280763|UMLS:C2752008|MESH:C567858|OMIM:612936|DOID:0110802 owl:Class MONDO:0017241 biolink:NamedThing AP4-related intellectual disability and spastic paraplegia A disorder that presents with spastic paraplegia and intellectual disability in which the cause of the disease is a mutation in the AP4B1 gene. tmpaxzxjjyw_mondo_relaxed.owl severe intellectual disability and progressive spastic paraplegia|AP4 deficiency syndrome|AP4 related intellectual disability and spastic paraplegia UMLS:CN202757|OMIM:614067|OMIM:612936|Orphanet:280763|OMIM:613744|OMIM:614066 owl:Class MONDO:0013718 biolink:NamedThing nephronophthisis 13 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. tmpaxzxjjyw_mondo_relaxed.owl NPHP13|nephronophthisis type 13|nephronophthisis 13 DOID:0111121|UMLS:C3280612|Orphanet:655|OMIM:614377 owl:Class MONDO:0032724 biolink:NamedThing spondyloepimetaphyseal dysplasia with joint laxity, type 3 tmpaxzxjjyw_mondo_relaxed.owl SEMDJL3|SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3 DOID:0112200|OMIM:618395 owl:Class CHEBI:17792 biolink:NamedThing organohalogen compound A compound containing at least one carbon-halogen bond (where X is a halogen atom). tmpaxzxjjyw_mondo_relaxed.owl organic halide|organohalogen compounds|RX|organic halides owl:Class CHEBI:33285 biolink:NamedThing heteroorganic entity A heteroorganic entity is an organic molecular entity in which carbon atoms or organic groups are bonded directly to one or more heteroatoms. tmpaxzxjjyw_mondo_relaxed.owl heteroorganic entities|organoelement compounds owl:Class MONDO:0005725 biolink:NamedThing cyclosporiasis A protozoan infection that is caused by Cyclospora cayetanensis, which is most commonly acquired from contaminated food or water, and which is characterized by watery diarrhea and abdominal pain. tmpaxzxjjyw_mondo_relaxed.owl Cyclospora cayetanensis caused disease or disorder|Cyclospora infection|Cyclospora caused disease or disorder|Cyclospora disease or disorder|cyclosporosis|Cyclospora cayetanensis infectious disease|intestinal infection caused by Cyclospora cayetanensis|infection of intestine caused by Cyclospora cayetanensis|Cyclospora infectious disease|Cyclospora cayetanensis disease or disorder EFO:0007230|GARD:0009528|MESH:D021866|ICD10:A07.4|DOID:12750|UMLS:C0343398|Orphanet:210|SCTID:240372001|ICD10:A07.3|ICD9:007.5|UMLS:C4274225|SCTID:716860005|NCIT:C128409 https://github.com/monarch-initiative/mondo/issues/3694 owl:Class MONDO:0005652 biolink:NamedThing Arterivirus infectious disease Infections caused by viruses of the family arteriviridae. tmpaxzxjjyw_mondo_relaxed.owl Arterivirus caused disease or disorder|Arterivirus disease or disorder EFO:0007152|MESH:D018174|UMLS:C0206604 owl:Class MONDO:0017922 biolink:NamedThing deafness-onychodystrophy syndrome Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. tmpaxzxjjyw_mondo_relaxed.owl OMIM:220500|Orphanet:3231|ICD10:Q87.8|OMIM:124480|UMLS:CN204041 owl:Class MONDO:0019285 biolink:NamedThing syndromic nail anomaly A nail anomaly that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with nail anomaly|syndromic nail anomaly Orphanet:79370|UMLS:CN227613 owl:Class MONDO:0054831 biolink:NamedThing Coffin-Siris syndrome 7 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the DPF2 gene. tmpaxzxjjyw_mondo_relaxed.owl CSS7|COFFIN-SIRIS syndrome 7 UMLS:CN248780|OMIM:618027 owl:Class MONDO:0003846 biolink:NamedThing viral esophagitis Viral infection of the esophagus. It often occurs in immunocompromised patients and it is caused by cytomegalovirus or herpes simplex virus. Symptoms include pain on swallowing, fever, and retrosternal burning. tmpaxzxjjyw_mondo_relaxed.owl viral esophagitis|Viruses caused esophagitis (disease)|Viruses esophagitis (disease) UMLS:C0341110|DOID:6297|NCIT:C27108|SCTID:235603003 owl:Class GO:0032368 biolink:NamedThing regulation of lipid transport Any process that modulates the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904251 biolink:NamedThing regulation of bile acid metabolic process Any process that modulates the frequency, rate or extent of bile acid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of bile acid metabolism owl:Class MONDO:0054561 biolink:NamedThing anauxetic dysplasia 2 tmpaxzxjjyw_mondo_relaxed.owl ANXD2|anauxetic dysplasia 2 OMIM:617396 owl:Class MONDO:0009518 biolink:NamedThing leprosy, susceptibility to, 3 Any leprosy in which the cause of the disease is a mutation in the TLR2 gene. tmpaxzxjjyw_mondo_relaxed.owl leprosy caused by mutation in TLR2|TLR2 leprosy|leprosy, susceptibility to, 3|leprosy, susceptibility to, type 3|susceptibility to leprosy 3|LPRS3 OMIM:246300|Orphanet:548 owl:Class MONDO:0003539 biolink:NamedThing T-cell adult acute lymphocytic leukemia An acute T-lymphoblastic leukemia occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl T cell adult acute lymphoblastic leukemia|adult T-cell acute lymphoblastic leukemia|adult acute lymphoblastic leukemia of T cell|acute Adult T-cell Leukemia-lymphoma|T cell adult acute lymphocytic leukemia|T Acute Lymphoblastic Leukemia|adult T acute lymphoblastic leukemia|adult precursor T lymphoblastic leukemia|adult precursor T-lymphoblastic leukemia|T cell adult ALL|T-cell adult ALL UMLS:C0279592|EFO:1001936|DOID:5602|NCIT:C9142 owl:Class MONDO:0003541 biolink:NamedThing adult acute lymphoblastic leukemia An acute lymphoblastic leukemia occurring during adulthood. tmpaxzxjjyw_mondo_relaxed.owl adult precursor lymphoblastic leukemia|adult acute lymphoid leukemia|adult ALL|acute lymphoblastic leukemia (ALL)|adult acute lymphogenous leukemia|adult acute lymphoblastic leukemia|adult acute lymphocytic leukemia NCIT:C4967|DOID:5604|UMLS:C0751606 owl:Class MONDO:0013898 biolink:NamedThing karyomegalic interstitial nephritis Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene. tmpaxzxjjyw_mondo_relaxed.owl interstitial nephritis caused by mutation in FAN1|KMIN|systemic karyomegaly|karyomegalic interstitial nephritis|kin|FAN1 interstitial nephritis|interstitial nephritis, karyomegalic UMLS:C3553774|OMIM:614817|DOID:0060911|Orphanet:401996|GARD:0011003|ICD10:N11.8 https://rarediseases.info.nih.gov/diseases/11003/karyomegalic-interstitial-nephritis owl:Class MONDO:0006032 biolink:NamedThing cystitis Inflammation of the urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl bladder infection|inflammation of urinary bladder|urinary bladder inflammation NCIT:C26738|ICD10:N30|DOID:1679|ICD9:595|SCTID:38822007|ICD10:N30.9|ICD9:595.89|ICD9:595.9|MESH:D003556|EFO:1000025|UMLS:C0010692 owl:Class MONDO:0006026 biolink:NamedThing urinary bladder disorder A disease involving the urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of urinary bladder|bladder disorder|disease of urinary bladder|urinary bladder disorder|urinary bladder disease|disorder of urinary bladder|urinary bladder disease or disorder|bladder disease ICD9:596.9|MESH:D001745|EFO:1000018|ICD10:N32.9|NCIT:C2900|SCTID:42643001|UMLS:C0005686|DOID:365|ICD9:596.8 owl:Class MONDO:0021145 biolink:NamedThing disorder of genitourinary system A disease that involves the genitourinary system. tmpaxzxjjyw_mondo_relaxed.owl syndrome of the genitourinary system|disease of genitourinary system|disorder of the genitourinary system|urogenital disease|genitourinary system disease or disorder|urogenital disorder|disorder of genitourinary system|disease or disorder of genitourinary system|genitourinary system disease SCTID:42030000|UMLS:C0080276|ICD10:N00.N99 owl:Class MONDO:0020284 biolink:NamedThing heart position anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98716 owl:Class MONDO:0006356 biolink:NamedThing parotid gland adenoid cystic carcinoma An aggressive carcinoma that arises from the parotid gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. tmpaxzxjjyw_mondo_relaxed.owl adenoid cystic carcinoma of parotid|parotid gland adenoid cystic carcinoma|adenoid cystic carcinoma of the parotid gland|parotid adenoid cystic carcinoma|adenoid cystic carcinoma of the parotid|adenoid cystic carcinoma of parotid gland EFO:1000459|DOID:0050931|SCTID:423615009|NCIT:C5937|UMLS:C1335355 owl:Class MONDO:0019730 biolink:NamedThing light chain deposition disease Light chain deposition disease (LCDD) is a rare condition characterized by the deposition of specific proteins (monoclonal light chains) in the kidneys and other organs. Light chains are used to make antibodies that the body needs to fight infection. People with LCDD make too many light chains, which get deposited in many body tissues. While LCDD can occur in any organ, the kidneys are always involved. Signs and symptoms of LCDD may include protein in the urine ; decreased kidney function; and/or nephrotic syndrome. Rarely, a person with LCDD may have symptoms from cardiac (heart) or liver involvement. The underlying cause of LCDD is unknown. It is often associated with multiple myeloma. LCDD may progress to multiple myeloma, or it may be present with multiple myeloma when it is first diagnosed. The goal of treating LCDD is to slow the production of light chains and their damage to organs. Treatment may include chemotherapy with a drug called Bortezomib ; autologous stem cell transplantation ; immunomodulatory drugs; and/or kidney transplant. If untreated, end-stage renal disease occurs in 70% of cases. tmpaxzxjjyw_mondo_relaxed.owl Light-chain deposition disease|Light chain disease|Light chain gammopathy|Bence Jones myeloma|LCDD ICD10:D89.8|SCTID:373604002|Orphanet:93558|GARD:0006906|NCIT:C7727|UMLS:C0238239 https://rarediseases.info.nih.gov/diseases/6906/light-chain-deposition-disease owl:Class MONDO:0019463 biolink:NamedThing non-amyloid monoclonal immunoglobulin deposition disease tmpaxzxjjyw_mondo_relaxed.owl non-amyloid MIDD|Randall disease UMLS:CN206242|Orphanet:86861|ICD10:D89.8 owl:Class MONDO:0020280 biolink:NamedThing metabolic disease with cataract tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN207083|Orphanet:98712 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0006191 biolink:NamedThing endometrial clear cell adenocarcinoma A clear cell adenocarcinoma that involves the endometrium. tmpaxzxjjyw_mondo_relaxed.owl endometrial clear cell adenocarcinoma|endometrium clear cell adenocarcinoma|clear cell carcinoma of the endometrium|clear cell carcinoma of endometrium UMLS:C0279765|DOID:5299|NCIT:C8028|EFO:1000231 owl:Class MONDO:0005546 biolink:NamedThing fibromyalgia A chronic disorder of unknown etiology characterized by pain, stiffness, and tenderness in the muscles of neck, shoulders, back, hips, arms, and legs. Other signs and symptoms include headaches, fatigue, sleep disturbances, and painful menstruation. tmpaxzxjjyw_mondo_relaxed.owl fibromyalgia syndrome|fibromyalgia UMLS:C0016053|ICD10:M79.1|NCIT:C87497|EFO:0005687|Orphanet:41842|DOID:631|MESH:D005356|GARD:0012069|SCTID:203082005|ICD9:729.1|ICD10:M79.7 https://github.com/monarch-initiative/mondo/issues/3170 owl:Class MONDO:0024317 biolink:NamedThing chronic pain syndrome Chronic form of disorder involving pain. tmpaxzxjjyw_mondo_relaxed.owl chronic pain disease|chronic disorder involving pain|disorder involving pain, chronic SCTID:373621006|ICD10:G89.4|ICD9:338.4|UMLS:C1298685 owl:Class UBERON:0000117 biolink:NamedThing respiratory tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013841 biolink:NamedThing stuttering, familial persistent, 3 tmpaxzxjjyw_mondo_relaxed.owl STUT3|stuttering, familial persistent, 3 OMIM:614655|UMLS:C3553381 owl:Class MONDO:0000723 biolink:NamedThing stutter disorder A speech disorder characterized by frequent sound or syllable repetitions, sound prolongations, or other dysfluencies that are inappropriate for the individual's age. tmpaxzxjjyw_mondo_relaxed.owl familial persistent stuttering|stammering|stutter|stuttering, familial persistent|stuttering OMIM:614655|OMIM:614668|NCIT:C35043|OMIM:184450|ICD10:F80.81|OMIM:609261|DOID:0060243|OMIMPS:184450 Editor note: check this; consider subclass for familial owl:Class MONDO:0009167 biolink:NamedThing Bonnemann-Meinecke-Reich syndrome Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991. tmpaxzxjjyw_mondo_relaxed.owl encephalopathy-intracerebral calcification-retinal degeneration syndrome|encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration|encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration|Bonnemann Meinecke Reich syndrome Orphanet:1261|GARD:0002113|SCTID:733049004|ICD10:Q04.8|OMIM:225755|UMLS:C1856973|MESH:C565594 https://rarediseases.info.nih.gov/diseases/2113/encephalopathy-intracranial-calcification-growth-hormone-deficiency-microcephaly-retinal-degeneration owl:Class GO:0031345 biolink:NamedThing negative regulation of cell projection organization Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cell projection organisation|down regulation of cell projection organization|negative regulation of cell projection organization and biogenesis|downregulation of cell projection organization|inhibition of cell projection organization|down-regulation of cell projection organization owl:Class MONDO:0015925 biolink:NamedThing interstitial lung disease A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of pulmonary alveoli that extends to the interstitium and beyond leading to diffuse pulmonary fibrosis. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. tmpaxzxjjyw_mondo_relaxed.owl interstitial lung disease|ILD UMLS:C0206062|OMIM:616414|DOID:3082|MESH:D017563|EFO:0004244|Orphanet:182095|GARD:0013336|MedDRA:10022611|ICD10:J84.9|SCTID:233703007 owl:Class GO:0051048 biolink:NamedThing negative regulation of secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a substance from a cell or a tissue. tmpaxzxjjyw_mondo_relaxed.owl downregulation of secretion|down-regulation of secretion|down regulation of secretion|inhibition of secretion owl:Class UBERON:0007172 biolink:NamedThing angle of scapula tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005913 biolink:NamedThing zone of bone organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011882 biolink:NamedThing skin fragility-woolly hair-palmoplantar keratoderma syndrome tmpaxzxjjyw_mondo_relaxed.owl SFWHS|skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome|skin fragility woolly hair syndrome|skin fragility-woolly hair syndrome ICD10:Q82.8|MESH:C564359|UMLS:C1843292|OMIM:607655|GARD:0005231|Orphanet:293165 https://rarediseases.info.nih.gov/diseases/5231/skin-fragility-woolly-hair-palmoplantar-keratoderma-syndrome owl:Class HGNC:6947 biolink:NamedThing MCM4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018159 biolink:NamedThing atypical hemolytic-uremic syndrome with DGKE deficiency tmpaxzxjjyw_mondo_relaxed.owl atypical HUS with DGKE deficiency|D-HUS with DGKE deficiency|hemolytic-uremic syndrome without diarrhea with DGKE deficiency|aHUS with DGKE deficiency Orphanet:357008|ICD10:D58.8|OMIM:615008|DOID:0080388|UMLS:CN204596 owl:Class MONDO:0005499 biolink:NamedThing brain glioma A malignant glioma that involves the brain. tmpaxzxjjyw_mondo_relaxed.owl brain malignant glioma|malignant glioma of brain EFO:0005543|NCIT:C4822|UMLS:C0349661|OMIM:613028|SCTID:254937005|DOID:0060108|OMIM:613029 owl:Class CL:1000457 biolink:NamedThing mesothelial cell of visceral peritoneum A mesothelial cell that is part of the visceral peritoneum. tmpaxzxjjyw_mondo_relaxed.owl FMA:72143 cell owl:Class CL:0000077 biolink:NamedThing mesothelial cell A flattened epithelial cell of mesenchymal origin that lines the serous cavity. tmpaxzxjjyw_mondo_relaxed.owl mesotheliocyte FMA:66773 cell owl:Class MONDO:0001227 biolink:NamedThing chronic tympanitis Chronic form of tympanitis. tmpaxzxjjyw_mondo_relaxed.owl tympanitis, chronic ICD10:H73.10|UMLS:C0395849|DOID:11217|ICD10:H73.1|SCTID:89723004|ICD9:384.1 owl:Class MONDO:0024616 biolink:NamedThing tympanitis An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane. tmpaxzxjjyw_mondo_relaxed.owl inflammation of tympanic membrane|myringitis|tympanic membrane inflammation SCTID:14852000|UMLS:C0027134 owl:Class MONDO:0044879 biolink:NamedThing pancreatic mucinous-cystic neoplasm A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation. tmpaxzxjjyw_mondo_relaxed.owl mucinous cystic neoplasm|Pancreatic mucinous cystic neoplasm|Pancreatic mucinous-cystic neoplasm NCIT:C41247|ONCOTREE:MCN owl:Class MONDO:0044880 biolink:NamedThing cystic tumor of the pancreas tmpaxzxjjyw_mondo_relaxed.owl ONCOTREE:PACT owl:Class UBERON:0003517 biolink:NamedThing kidney blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003497 biolink:NamedThing abdomen blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:37325 biolink:NamedThing alloxazine tmpaxzxjjyw_mondo_relaxed.owl benzo[g]pteridine-2,4(1H,3H)-dione|Alloxazin|alloxazine owl:Class GO:0001217 biolink:NamedThing DNA-binding transcription repressor activity A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets. tmpaxzxjjyw_mondo_relaxed.owl bacterial-type RNA polymerase transcriptional repressor activity, metal ion regulated sequence-specific DNA binding|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|bacterial-type DNA binding transcription repressor activity|transcriptional repressor activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|copper ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|bacterial-type RNA polymerase transcriptional repressor activity, cadmium ion regulated sequence-specific DNA binding|bacterial-type RNA polymerase transcriptional repressor activity, sequence-specific DNA binding|metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|bacterial-type RNA polymerase transcriptional repressor activity, copper ion regulated sequence-specific DNA binding|cadmium ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in negative regulation of transcription|transcriptional repressor activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding|bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription owl:Class MONDO:0009643 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency type A tmpaxzxjjyw_mondo_relaxed.owl MOCOD type A|MOCODA|molybdenum cofactor deficiency, complementation group A|molybdenum cofactor deficiency type A|molybdenum cofactor deficiency, complementation group type a|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A|sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|molybdenum cofactor deficiency complementation group A Orphanet:308386|ICD10:E72.1|Orphanet:99732|OMIM:252150|PMID:9731530|MESH:C565372|DOID:0111164|UMLS:C1854988|Orphanet:833 owl:Class MONDO:0020480 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency tmpaxzxjjyw_mondo_relaxed.owl combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase|molybdenum cofactor deficiency|MOCOD|combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase OMIM:252160|OMIM:252150|OMIM:615501|GARD:0003705|OMIMPS:252150|DOID:0111165|ICD10:E72.1|Orphanet:99732 Editor note: DO class is more general owl:Class CHEBI:23018 biolink:NamedThing EC 4.2.1.1 (carbonic anhydrase) inhibitor An EC 4.2.1.* (hydro-lyases) inhibitor that interferes with the action of carbonic anhydrase (EC 4.2.1.1). Such compounds reduce the secretion of H(+) ions by the proximal kidney tubule. tmpaxzxjjyw_mondo_relaxed.owl carbonate hydro-lyase (carbon-dioxide-forming) inhibitor|carbonic anhydrase A inhibitors|carbonic anhydrase inhibitors|carboxyanhydrase inhibitors|EC 4.2.1.1 inhibitor|carbonic anhydrase (EC 4.2.1.1) inhibitor|carbonic anhydrase inhibitor|EC 4.2.1.1 inhibitors|carbonate anhydrase inhibitor|carbonate hydro-lyase inhibitors|carbonate dehydratase inhibitor|carbonate anhydrase inhibitors|carbonic anhydrase A inhibitor|anhydrase inhibitors|carbonic acid anhydrase inhibitors|carbonate dehydratase inhibitors|carbonate hydro-lyase inhibitor|EC 4.2.1.1 (carbonic anhydrase) inhibitors|carbonic anhydrase (EC 4.2.1.1) inhibitors|anhydrase inhibitor|carboxyanhydrase inhibitor|carbonic acid anhydrase inhibitor|carbonate hydro-lyase (carbon-dioxide-forming) inhibitors owl:Class CHEBI:76907 biolink:NamedThing EC 4.2.1.* (hydro-lyases) inhibitor An EC 4.2.* (C-O lyase) inhibitor that interferes with the action of any hydro-lyase (EC 4.2.1.*). tmpaxzxjjyw_mondo_relaxed.owl EC 4.2.1.* inhibitors|EC 4.2.1.* (hydro-lyase) inhibitors|hydro-lyase (EC 4.2.1.*) inhibitor|EC 4.2.1.* inhibitor|hydro-lyase (EC 4.2.1.*) inhibitors|EC 4.2.1.* (hydro-lyase) inhibitor|EC 4.2.1.* (hydro-lyases) inhibitors owl:Class MONDO:0019474 biolink:NamedThing hepatosplenic T-cell lymphoma An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis. tmpaxzxjjyw_mondo_relaxed.owl HSTCL|Hepatosplenic gamma/Delta T-cell lymphoma ICD10:C86.1|MedDRA:10066957|SCTID:445406001|ONCOTREE:HSTCL|ICDO:9716/3|UMLS:C1333984|Orphanet:86882|NCIT:C8459|ICD9:202.80 owl:Class MONDO:0015760 biolink:NamedThing T-cell non-Hodgkin lymphoma A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas. -- 2003 tmpaxzxjjyw_mondo_relaxed.owl T-cell non-Hodgkin lymphoma|T cell lymphoma|T-cell and NK-cell non-Hodgkin's lymphoma|T-cell non-Hodgkin's lymphoma|T-cell NHL|T-cell and NK-cell non-Hodgkin lymphoma|non-Hodgkin's T-cell lymphoma|T-cell lymphoma MedDRA:10042971|UMLS:C0079772|Orphanet:171918|NCIT:C3466|ICD9:202.70|MESH:D016399|SCTID:109978004 owl:Class MONDO:0006022 biolink:NamedThing acidosis disorder An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic. tmpaxzxjjyw_mondo_relaxed.owl acidosis EFO:1000014|NCIT:C83504|SCTID:51387008|HP:0001941|ICD9:276.2 owl:Class MONDO:0002549 biolink:NamedThing schwannoma of twelfth cranial nerve A schwannoma that involves the hypoglossal nerve. tmpaxzxjjyw_mondo_relaxed.owl neurilemmoma of the hypoglossal nerve|twelfth cranial nerve neurilemmoma|neurilemmoma of hypoglossal nerve|schwannoma of hypoglossal nerve|hypoglossal nerve schwannoma|hypoglossal schwannoma|schwannoma of the hypoglossal nerve|twelfth cranial nerve schwannoma|hypoglossal nerve neurilemmoma|schwannoma of the twelfth cranial nerve|hypoglossal neurilemmoma|neurilemmoma of twelfth cranial nerve|schwannoma of twelfth cranial nerve|neurilemmoma of the twelfth cranial nerve NCIT:C5434|UMLS:C1335928|DOID:3197 owl:Class MONDO:0002550 biolink:NamedThing hypoglossal nerve neoplasm A neoplasm involving a hypoglossal nerve. tmpaxzxjjyw_mondo_relaxed.owl XIIth cranial nerve tumors|tumor of hypoglossal nerve|hypoglossal nerve tumor|hypoglossal nerve tumors|twelfth cranial nerve tumors|neoplasm of hypoglossal nerve|tumor of the twelfth cranial nerve|neoplasm of twelfth cranial nerve|neoplasm of the twelfth cranial nerve|neoplasm of the hypoglossal nerve|tumor of twelfth cranial nerve|twelfth cranial nerve tumor|hypoglossal nerve neoplasms|twelfth cranial nerve neoplasm|hypoglossal nerve neoplasm (disease)|twelfth cranial nerve neoplasms|XIIth cranial nerve neoplasms|hypoglossal nerve neoplasm|tumor of the hypoglossal nerve UMLS:C1263903|DOID:3198|NCIT:C5830|ICD9:239.7|SCTID:126978008 owl:Class MONDO:0000923 biolink:NamedThing interstitial emphysema Pathologic accumulation of air in the interstitium of the lungs, which is caused by the rupture of alveoli and terminal bronchioles, and is most often seen in premature infants that need mechanical ventilation for respiratory distress syndrome. tmpaxzxjjyw_mondo_relaxed.owl pulmonary interstitial emphysema|pie|interstitial emphysema of lung ICD9:518.1|DOID:10030|SCTID:77690003|ICD10:J98.2|UMLS:C1370824|NCIT:C34571 owl:Class MONDO:0004849 biolink:NamedThing pulmonary emphysema A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. tmpaxzxjjyw_mondo_relaxed.owl emphysema|emphysema, pulmonary OMIM:130700|MESH:D004646|GARD:0011937|MESH:D011656|EFO:0000464|NCIT:C3348|ICD10:J43|ICD9:492.8|ICD10:J43.8|SCTID:87433001|DOID:9675|ICD9:492 owl:Class MONDO:0013018 biolink:NamedThing keratosis follicularis spinulosa decalvans, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl keratosis follicularis SPINULOSA decalvans, autosomal dominant|KFSD|keratosis follicularis spinulosa decalvans, autosomal dominant UMLS:C2748527|MESH:C567553|OMIM:612843|Orphanet:2340 owl:Class MONDO:0000136 biolink:NamedThing keratosis follicularis spinulosa decalvans Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma. tmpaxzxjjyw_mondo_relaxed.owl keratosis pilaris decalvans MESH:C536159|OMIM:604093|ICD9:757.39|GARD:0006829|OMIM:612843|ICD10:Q82.8|Orphanet:2340|OMIM:308800|SCTID:238626006 owl:Class UBERON:0004464 biolink:NamedThing musculature of thorax tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000676 biolink:NamedThing contaminated air Contaminated air is air which has sufficient concentrations of environmental pollutants such that it may adversely affect a given ecosystem. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00002005 biolink:NamedThing air The mixture of gases (roughly (by molar content/volume: 78% nitrogen, 20.95% oxygen, 0.93% argon, 0.038% carbon dioxide, trace amounts of other gases, and a variable amount (average around 1%) of water vapor) that surrounds the planet Earth. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012254 biolink:NamedThing abdominal aorta artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014886 biolink:NamedThing distal epiphysis of distal phalanx of manual digit tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007083 biolink:NamedThing autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications. tmpaxzxjjyw_mondo_relaxed.owl PPKCA1|palmoplantar keratoderma and congenital alopecia 1|PPK-CA, Stevanovic type|palmoplantar keratoderma and congenital alopecia, Stevanovic type|autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|keratoderma-hypotrichosis-leukonychia totalis syndrome|palmoplantar keratoderma and congenital alopecia type 1|alopecia congenita with hyperkeratosis of the palms and soles|Ppkca, Stevanovic type OMIM:104100|GARD:0000604|Orphanet:1010|ICD10:Q82.8|SCTID:719518004 https://rarediseases.info.nih.gov/diseases/604/autosomal-dominant-palmoplantar-keratoderma-and-congenital-alopecia owl:Class GO:0042326 biolink:NamedThing negative regulation of phosphorylation Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule. tmpaxzxjjyw_mondo_relaxed.owl inhibition of phosphorylation|down-regulation of phosphorylation|down regulation of phosphorylation|downregulation of phosphorylation owl:Class MONDO:0011531 biolink:NamedThing Noonan syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl Noonan syndrome type 2|Noonan syndrome 2|NS2|Noonan syndrome autosomal recessive|Noonan syndrome, autosomal recessive|autosomal recessive Noonan syndrome UMLS:C1854469|DOID:0060580|MESH:C548081|Orphanet:648|OMIM:605275|GARD:0010698 https://rarediseases.info.nih.gov/diseases/10698/noonan-syndrome-2 owl:Class MONDO:0018997 biolink:NamedThing Noonan syndrome Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. tmpaxzxjjyw_mondo_relaxed.owl Ullrich-Noonan syndrome|pseudo-Ullrich-Turner syndrome|Noonan syndrome|Turner's phenotype, karyotype normal|Noonan-Ehmke syndrome|Noonan's syndrome OMIM:163950|OMIM:613706|OMIM:609942|OMIM:611553|OMIM:616559|NCIT:C75459|UMLS:C0028326|SCTID:205824006|Orphanet:648|OMIM:615355|OMIM:613224|OMIM:605275|ICD10:Q87.1|NCIT:C34854|MedDRA:10029748|OMIM:616564|MESH:D009634|GARD:0010955|DOID:3490|ICD9:759.89|OMIMPS:163950|OMIM:610733 owl:Class UBERON:0003668 biolink:NamedThing synovial bursa tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:50905 biolink:NamedThing teratogenic agent A role played by a chemical compound in biological systems with adverse consequences in embryo developments, leading to birth defects, embryo death or altered development, growth retardation and functional defect. tmpaxzxjjyw_mondo_relaxed.owl teratogen|agent teratogene|teratogeno owl:Class CHEBI:52209 biolink:NamedThing aetiopathogenetic role A role played by the molecular entity or part thereof which causes the development of a pathological process. tmpaxzxjjyw_mondo_relaxed.owl etiopathogenetic agent|etiopathogenetic role owl:Class MONDO:0020538 biolink:NamedThing malignant dysgerminomatous germ cell tumor of ovary Malignant dysgerminomatous germ cell tumor of ovary is the most common form of malignant germ cell tumor of ovary, arising from germ cells in the ovary, usually presenting during adolescence with pelvic mass, fever, vaginal bleeding, and acute abdomen and is characterized by bilaterality (around 10% of cases), association with dysgenetic gonads (5 to 10% of cases), elevated serum lactate dehydrogenase (LDH) and human chorionic gonadotrophin (hCG) (in the presence of syncitiotrophoblasts). Malignant dysgerminomatous germ cell tumor of ovary responds well to chemotherapy, potentially sparing patients from infertility and early mortality. tmpaxzxjjyw_mondo_relaxed.owl dysgerminomatous germ cell cancer of the ovary|dysgerminomatous germ cell cancer of ovary|malignant ovarian dysgerminoma|malignant dysgerminomatous germ cell tumor of the ovary Orphanet:99912|UMLS:CN207439|ICD10:C56 owl:Class MONDO:0018171 biolink:NamedThing malignant germ cell tumor of ovary Malignant germ cell tumor of ovary is a rare ovarian cancer arising from germ cells in the ovary, frequently unilateral at diagnosis which characteristically presents during adolescence with pelvic mass, fever, vaginal bleeding and acute abdomen. tmpaxzxjjyw_mondo_relaxed.owl malignant ovarian germ cell neoplasm|malignant germ cell neoplasm of the ovary|ovarian germ cell cancer|ovary malignant germ cell tumor|malignant ovarian germ cell tumor|MOGCT|malignant germ cell neoplasm of ovary|malignant germ cell tumor of ovary|malignant germ cell tumor of the ovary Orphanet:35807|DOID:2155|SCTID:254869000|ICD10:C56|UMLS:C0346180|OMIM:603737|NCIT:C4514 owl:Class MONDO:0001818 biolink:NamedThing facial neuralgia Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions. tmpaxzxjjyw_mondo_relaxed.owl neuralgia of facial nerve|facial nerve neuralgia MESH:D005156|SCTID:4151000119102|ICD9:351.8|DOID:13865 owl:Class MONDO:0021667 biolink:NamedThing neuralgia A pain disorder characterize by pain in the distribution of a nerve or nerves tmpaxzxjjyw_mondo_relaxed.owl paroxysmal nerve pains|pain, neuropathic|paroxysmal nerve pain|neuralgia|pain, nerve MESH:D009437|SCTID:16269008|ICD9:729.2 owl:Class MONDO:0018930 biolink:NamedThing monosomy 21 Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl 21q deletion|deletion 21q|21q- syndrome|partial monosomy 21q|monosomy type 21|chromosome 21q deletion|monosomy 21q|21q monosomy|21q deletion syndrome|partial 21q monosomy ICD10:Q93.0|NCIT:C36469|GARD:0010860|Orphanet:574|UMLS:C0795875|MESH:C537108 owl:Class CHEBI:33720 biolink:NamedThing carbohydrate acid tmpaxzxjjyw_mondo_relaxed.owl carbohydrate acids|carbohydrate acid owl:Class MONDO:0100038 biolink:NamedThing complex neurodevelopmental disorder A disorder that involves more than one phenotype associated with the central nervous system, including but not limited to intellectual disability, autism, and seizures (epilepsy). tmpaxzxjjyw_mondo_relaxed.owl complex neurodevelopmental disorder 2018-06-29 18:21:11+00:00 owl:Class MONDO:0016844 biolink:NamedThing trisomy 20p Trisomy 20p is a chromosomal disorder resulting from duplication of all or part of the short arm of chromosome 20. It is mostly characterized by normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. tmpaxzxjjyw_mondo_relaxed.owl trisomy 20p|trisomy type 20p|Duplication 20p|chromosome 20p duplication|20p trisomy|partial duplication of chromosome 20p|partial trisomy 20p|partial trisomy of the short arm of chromosome 20|Duplication of 20p|partial trisomy of chromosome 20p|20p duplication|partial duplication of the short arm of chromosome 20|dup(20p) ICD9:758.5|GARD:0005333|SCTID:111311004|MESH:C535371|ICD10:Q92.2|Orphanet:261318 owl:Class MONDO:0011941 biolink:NamedThing mycobacterium tuberculosis, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl MTBS1|Mycobacterium tuberculosis, susceptibility to, type 1|mycobacterium tuberculosis, susceptibility to, 1 OMIM:607949 owl:Class MONDO:0000070 biolink:NamedThing mycobacterium tuberculosis, susceptibility tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001649 biolink:NamedThing fungal esophagitis Infection of the esophagus caused by fungi, most often candida albicans and candida tropicalis. It usually affects patients with immunodeficiency disorders or diabetes mellitus. Symptoms include dysphagia and pain on swallowing. tmpaxzxjjyw_mondo_relaxed.owl fungal esophagitis NCIT:C27107|SCTID:235602008|DOID:13147|UMLS:C0341109|ICD9:117.9 owl:Class MONDO:0012366 biolink:NamedThing gallbladder disease 3 tmpaxzxjjyw_mondo_relaxed.owl gallbladder disease 3|GBD3 UMLS:C1835924|MESH:C563686|OMIM:609919 owl:Class MONDO:0021313 biolink:NamedThing eyelid cancer A cancer that involves the eyelid. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of eyelid|malignant neoplasm of the eyelid|cancer of eyelid|malignant neoplasm of eyelid|eyelid cancer|malignant eyelid neoplasm|malignant eyelid tumor|malignant tumor of the eyelid ICD9:173.1|NCIT:C6786|SCTID:231829006 owl:Class GO:0032388 biolink:NamedThing positive regulation of intracellular transport Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells. tmpaxzxjjyw_mondo_relaxed.owl up regulation of intracellular transport|up-regulation of intracellular transport|stimulation of intracellular transport|activation of intracellular transport|upregulation of intracellular transport owl:Class HGNC:2321 biolink:NamedThing CPOX tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16725 biolink:NamedThing DNAAF11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013866 biolink:NamedThing neuronal ceroid lipofuscinosis 11 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene. tmpaxzxjjyw_mondo_relaxed.owl GRN neuronal ceroid lipofuscinosis|ceroid lipofuscinosis, neuronal, 11|neuronal ceroid lipofuscinosis type 11|ceroid lipofuscinosis, neuronal, type 11|Grn neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in Grn|neuronal ceroid lipofuscinosis caused by mutation in GRN|CLN11 disease|CLN11 OMIM:614706|Orphanet:79262|ICD10:E75.4|Orphanet:314629|DOID:0110732|UMLS:C3539123 owl:Class MONDO:0016295 biolink:NamedThing neuronal ceroid lipofuscinosis A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. tmpaxzxjjyw_mondo_relaxed.owl neuronal ceroid lipofuscinosis|NCL|hereditary ceroid lipofuscinosis|ceroid lipofuscinoses DOID:14503|GARD:0010739|NCIT:C61257|UMLS:C0027877|OMIMPS:256730|Orphanet:79262|SCTID:42012007|ICD10:E75.4|Orphanet:216 owl:Class MONDO:0008185 biolink:NamedThing hereditary chronic pancreatitis Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas. tmpaxzxjjyw_mondo_relaxed.owl familial pancreatitis|pancreatitis, chronic, susceptibility to|PCTT|hereditary pancreatitis|pancreatitis, chronic, protection against, included|pancreatitis, calcific|pancreatitis, chronic|Hp|autosomal dominant hereditary pancreatitis|pancreatitis, chronic pancreatitis, chronic, susceptibility to, included|HPC|hereditary chronic pancreatitis|pancreatitis, hereditary|pancreatitis, chronic, protection against|pancreatitis, calcific, included OMIM:167800|MESH:C537262|NCIT:C95436|SCTID:68072000|GARD:0006632|Orphanet:676|ICD9:577.8|ICD10:K86.1 https://rarediseases.info.nih.gov/diseases/6632/hereditary-pancreatitis owl:Class MONDO:0005003 biolink:NamedThing chronic pancreatitis A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus. tmpaxzxjjyw_mondo_relaxed.owl pancreatitis, chronic OMIM:167800|MESH:D050500|UMLS:C0149521|NCIT:C84637|OMIM:608189|EFO:0000342|ICD9:577.1|SCTID:235494005 owl:Class GO:0008509 biolink:NamedThing anion transmembrane transporter activity Enables the transfer of a negatively charged ion from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl anion transporter activity owl:Class GO:0015075 biolink:NamedThing ion transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl ion transporter activity owl:Class MONDO:0021316 biolink:NamedThing malignant tumor of minor salivary gland A cancer that involves the minor salivary gland. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the minor salivary gland|minor salivary gland cancer|malignant minor salivary gland tumor|malignant tumor of the minor salivary gland|malignant neoplasm of minor salivary gland|malignant minor salivary gland neoplasm|cancer of minor salivary gland NCIT:C4410|UMLS:C0345614|SCTID:363485006 owl:Class MONDO:0021370 biolink:NamedThing neoplasm of minor salivary gland A neoplasm (disease) that involves the minor salivary gland. tmpaxzxjjyw_mondo_relaxed.owl minor salivary gland tumor|neoplasm of minor salivary gland|tumor of minor salivary gland|minor salivary gland neoplasm (disease)|minor salivary gland neoplasm|tumor of the minor salivary gland|neoplasm of the minor salivary gland UMLS:C0345613|SCTID:126798006|NCIT:C4409 owl:Class MONDO:0005498 biolink:NamedThing botulism A serious bacterial infection caused by botulinum toxin which is produced by Clostridium botulinum. Patients are infected usually by ingestion of contaminated food or wound contamination. It leads to muscle paralysis which may result in respiratory failure. tmpaxzxjjyw_mondo_relaxed.owl wound botulism (subtype)|botulism|botulism poisoning|food poisoning due to Clostridium botulinum|intoxication with Clostridium botulinum toxin|foodborne botulism (subtype)|infant botulism (subtype)|infection due to Clostridium botulinum|foodborne botulism MESH:D001906|ICD10:A05.1|MedDRA:10006041|Orphanet:1267|DOID:11976|GARD:0000943|UMLS:C0006057|SCTID:398530003|NCIT:C84599|SCTID:398565003|CSP:5000-0060|EFO:0005542|SCTID:398523009 https://rarediseases.info.nih.gov/diseases/943/botulism owl:Class UBERON:0005691 biolink:NamedThing 4th arch mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000057 biolink:NamedThing urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007877 biolink:NamedThing laryngeal adductor paralysis tmpaxzxjjyw_mondo_relaxed.owl LAP|laryngeal adductor paralysis|vocal cord dysfunction, adductor type OMIM:150270|MESH:C562861 owl:Class GO:0005594 biolink:NamedThing collagen type IX trimer A collagen heterotrimer containing type IX alpha chains in alpha1(IX)alpha2(IX)alpha3(IX) trimers; type IX collagen triple helices associate to form a structure that links glycosaminoglycans to type II collagen fibrils. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005593 biolink:NamedThing FACIT collagen trimer A collagen trimer that associates with collagen fibrils and consists of collagen monomers that contain two or more relatively short triple-helical domains connected by non-triple-helical sequences. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014100 biolink:NamedThing dilated cardiomyopathy 1KK Any dilated cardiomyopathy in which the cause of the disease is a mutation in the MYPN gene. tmpaxzxjjyw_mondo_relaxed.owl dilated cardiomyopathy caused by mutation in MYPN|dilated cardiomyopathy type 1KK|CMD1KK|cardiomyopathy, familial restrictive, 4|MYPN dilated cardiomyopathy|cardiomyopathy, dilated, 1KK|cardiomyopathy, dilated, type 1Kk|cardiomyopathy, familial hypertrophic, 22 ICD10:I42.0|OMIM:615248|Orphanet:75249|DOID:0110445 owl:Class GO:0002638 biolink:NamedThing negative regulation of immunoglobulin production Any process that stops, prevents, or reduces the frequency, rate, or extent of immunoglobulin production. tmpaxzxjjyw_mondo_relaxed.owl inhibition of immunoglobulin production|negative regulation of immunoglobulin secretion|negative regulation of immunoglobulin biosynthetic process|down regulation of immunoglobulin production|down-regulation of immunoglobulin production|downregulation of immunoglobulin production owl:Class GO:0002701 biolink:NamedThing negative regulation of production of molecular mediator of immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of the production of molecular mediator of immune response. tmpaxzxjjyw_mondo_relaxed.owl downregulation of production of molecular mediator of immune response|down-regulation of production of molecular mediator of immune response|down regulation of production of molecular mediator of immune response|inhibition of production of molecular mediator of immune response owl:Class MONDO:0009726 biolink:NamedThing proteosome-associated autoinflammatory syndrome tmpaxzxjjyw_mondo_relaxed.owl Joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|amyotrophy-fat tissue anomaly syndrome|JMP syndrome|secondary hypertrophic osteoperiostosis with pernio|ALDD|CANDLE syndrome|amyotrophy fat tissue anomaly|proteasome-associated autoinflammatory syndrome|Nakajo-Nishimura syndrome|Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome|chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome|Joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|ALDD syndrome|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|autoinflammation-lipodystrophy-dermatosis syndrome|PRAAS|proteasome disability syndrome|nodular erythema digital changes|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature|Nakajo syndrome|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|Nakajo Nishimura syndrome|NNS ICD10:L98.8|UMLS:CN204109|GARD:0003916|Orphanet:324999|OMIMPS:256040|ICD9:709.8|Orphanet:2615|DOID:0050553|UMLS:CN202195|Orphanet:325004|Orphanet:324977|GARD:0010811|OMIM:256040|GARD:0010988|SCTID:702449004|MESH:C538334|GARD:0003917 https://rarediseases.info.nih.gov/diseases/10988/jmp-syndrome|https://rarediseases.info.nih.gov/diseases/10811/chronic-atypical-neutrophilic-dermatosis-with-lipodystrophy-and-elevated-temperature owl:Class MONDO:0017369 biolink:NamedThing autoinflammatory syndrome with immune deficiency tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN203042|Orphanet:290839 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: autoinflammatory syndrome' MONDO_0019751 owl:Class MONDO:0016751 biolink:NamedThing malignant perineurioma A very rare malignant tumor with morphologic features similar to those of benign perineurioma of soft tissue along with hypercellularity, nuclear atypia, hyperchromasia, and a high mitotic rate. tmpaxzxjjyw_mondo_relaxed.owl malignant peripheral nerve sheath tumor with perineurial differentiation|perineurial malignant peripheral nerve sheath tumor|perineurioma, malignant NCIT:C66845|ICDO:9571/3|UMLS:C1266188|Orphanet:252128|SCTID:761958009 owl:Class UBERON:0001500 biolink:NamedThing muscle of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0039222 biolink:NamedThing cystic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004447 biolink:NamedThing pituitary stalk meningioma A meningioma that affects the pituitary stalk. tmpaxzxjjyw_mondo_relaxed.owl meningioma (disease) of pituitary stalk|meningioma of pituitary stalk|pituitary stalk meningioma (disease)|meningioma of the pituitary stalk UMLS:C1335422|NCIT:C5311|DOID:8058 owl:Class MONDO:0003257 biolink:NamedThing posterior pituitary gland neoplasm A low-grade neoplasm that arises from the neurohypophysis. It includes the granular cell tumor of the neurohypophysis and pituicytoma. tmpaxzxjjyw_mondo_relaxed.owl neurohypophysis neoplasm|tumor of neurohypophysis|posterior pituitary gland neoplasm|neurohypophysis neoplasm (disease)|Neurohypophysis tumor|PITUICYTOMA, benign|posterior pituitary tumor|Neurohypophysis neoplasm|posterior pituitary gland tumor|posterior pituitary neoplasm|neoplasm of neurohypophysis|neurohypophysis tumor UMLS:C1334957|DOID:5048|NCIT:C7157 owl:Class MONDO:0032889 biolink:NamedThing Poirier-Bienvenu neurodevelopmental syndrome tmpaxzxjjyw_mondo_relaxed.owl POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME|POBINDS OMIM:618732 owl:Class GO:0050819 biolink:NamedThing negative regulation of coagulation Any process that stops, prevents, or reduces the frequency, rate or extent of coagulation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of coagulation|negative regulation of clotting|anticoagulant activity|down regulation of coagulation|inhibition of coagulation|down-regulation of coagulation owl:Class MONDO:0008903 biolink:NamedThing lung cancer A malignant neoplasm involving the lung. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of lung|malignant tumor of the lung|lung neoplasm|cancer of lung|malignant lung tumor|malignant tumor of lung|Nonsmall cell lung cancer|alveolar cell carcinoma|lung cancer|malignant lung neoplasm|lung cancer, protection against|malignant neoplasm of the lung OMIM:612571|OMIM:612593|ICD9:162.3|ICD9:162.9|OMIM:608935|UMLS:C0684249|ICD10:C34.1|NCIT:C7377|ICD10:C34.2|ICD9:162.4|UMLS:C0007131|DOID:1324|OMIM:211980|OMIM:614210|ICD9:162.5|UMLS:C0152013|ICD10:C34.3|ICD9:162.8|SCTID:363358000 owl:Class MONDO:0023388 biolink:NamedThing pityriasis rotunda Pityriasis rotunda is a rare skindisease characterized by round, scaly, pigmented patches that mainly occur on the trunk, arms and legs. There are two types of pityriasis rotunda. tmpaxzxjjyw_mondo_relaxed.owl Pityriasis rotunda GARD:0010904|SCTID:238639005|UMLS:C0343060 owl:Class MONDO:0015055 biolink:NamedThing acquired angioedema type 2 Acquired angioedema type 2 (AAE2) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpaxzxjjyw_mondo_relaxed.owl acquired angioneurotic edema type 2|AAE II|AAE 2 Orphanet:100055|ICD10:T78.3|UMLS:CN197347 owl:Class MONDO:0019624 biolink:NamedThing acquired angioedema Acquired angioedema (AAE) is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain due to an acquired C1 inhibitor (C1-INH) deficiency. tmpaxzxjjyw_mondo_relaxed.owl acquired bradykinine-induced angioedema|angioedema, acquired|AAE|acquired angioneurotic edema|acquired C1 inhibitor deficiency|acquired angioedema|acquired non histamine-induced angioedema MESH:C538173|GARD:0008605|Orphanet:91385|UMLS:C2931758|OMIM:300909|ICD10:T78.3 https://rarediseases.info.nih.gov/diseases/8605/acquired-angioedema owl:Class NCBITaxon:56211 biolink:NamedThing Calomys laucha tmpaxzxjjyw_mondo_relaxed.owl small vesper mouse GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:29105 biolink:NamedThing Calomys tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0090325 biolink:NamedThing regulation of locomotion involved in locomotory behavior Any process that modulates the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004006 biolink:NamedThing rete ovarii cystadenofibroma An exceptionally rare cystadenofibroma that arises from the rete ovarii. tmpaxzxjjyw_mondo_relaxed.owl cystadenofibroma of rete ovarii|rete ovarii cystadenofibroma UMLS:C1514906|DOID:6838|NCIT:C40020 owl:Class MONDO:0003464 biolink:NamedThing cystadenofibroma A benign or borderline neoplasm that arises from the ovaries and the fallopian tubes. It is characterized by the presence of cystic glandular structures and fibrous tissue. tmpaxzxjjyw_mondo_relaxed.owl cystadenofibroma MESH:D062625|NCIT:C8987|DOID:5482|NCIT:C8985 owl:Class HGNC:3668 biolink:NamedThing FGF12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051352 biolink:NamedThing negative regulation of ligase activity Any process that stops or reduces the rate of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of ligase activity|downregulation of ligase activity|inhibition of ligase activity|down regulation of ligase activity|ligase inhibitor owl:Class MONDO:0000290 biolink:NamedThing primary amebic meningoencephalitis A infectious disease involving the Naegleria fowleri. tmpaxzxjjyw_mondo_relaxed.owl Naegleria fowleri infection|infections, Naegleria fowleri UMLS:C0300934|GARD:0009554|DOID:0050242|UMLS:C4303098|MESH:C535275|SCTID:721816008 owl:Class HP:0000554 biolink:NamedThing Uveitis Inflammation of one or all portions of the uveal tract. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042164|SNOMEDCT_US:128473001|MSH:D014605 The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. human_phenotype owl:Class HP:0000553 biolink:NamedThing Abnormal uvea morphology An abnormality of the uvea, the vascular layer of the eyeball. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the uvea UMLS:C4025842 human_phenotype owl:Class MONDO:0021335 biolink:NamedThing carcinoma of duodenum A carcinoma that involves the duodenum. tmpaxzxjjyw_mondo_relaxed.owl cancer of the duodenum|duodenum carcinoma|carcinoma of duodenum|cancer of duodenum|duodenal carcinoma|carcinoma of the duodenum|duodenal cancer SCTID:254570009|NCIT:C4803 owl:Class MONDO:0000920 biolink:NamedThing duodenum cancer A primary or metastatic malignant neoplasm that affects the duodenum. Representative examples include carcinoma, lymphoma, and sarcoma. tmpaxzxjjyw_mondo_relaxed.owl malignant duodenum neoplasm|malignant neoplasm of duodenum|malignant duodenal tumor|cancer of duodenum|malignant tumor of duodenum|malignant tumor of the duodenum|duodenum cancer|malignant duodenal neoplasm|duodenal cancer|malignant neoplasm of the duodenum ICD9:152.0|MESH:D004379|SCTID:363403002|SCTID:254570009|DOID:10021|NCIT:C4803|ICD10:C17.0|NCIT:C9328 owl:Class PATO:0002304 biolink:NamedThing increased process quality A quality of a process that has a value that is increased compared to normal or average. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001236 biolink:NamedThing process quality A quality which inheres in an process. tmpaxzxjjyw_mondo_relaxed.owl quality of process|relational quality of occurrent|quality of a process|quality of occurrent owl:Class GO:0050867 biolink:NamedThing positive regulation of cell activation Any process that activates or increases the frequency, rate or extent of activation. tmpaxzxjjyw_mondo_relaxed.owl stimulation of cell activation|up regulation of cell activation|up-regulation of cell activation|upregulation of cell activation|activation of cell activation owl:Class MONDO:0000473 biolink:NamedThing arterial disorder An impairment of the structure or function of the blood vessels which carry blood away from the heart. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of artery|disease of artery|disorder of artery|arterial disease|arterial disorder|artery disease|arteriopathy|artery disease or disorder ICD9:447.9|NCIT:C35317|DOID:0050828|ICD9:447.8|UMLS:C0852949|SCTID:359557001 owl:Class MONDO:0060764 biolink:NamedThing tetraamelia syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl tetraamelia syndrome 1|TETAMS1|tetraamelia syndrome, autosomal recessive OMIM:273395 owl:Class MONDO:0010110 biolink:NamedThing tetraamelia-multiple malformations syndrome Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent. tmpaxzxjjyw_mondo_relaxed.owl Tetraamelia multiple malformations X-linked|Zimmer phocomelia|TETAMS|Zimmer Taub Sova syndrome|TETRAAMELIA syndrome, autosomal recessive SCTID:716249009|GARD:0000386|Orphanet:3301|MESH:C536500|ICD10:Q87.8|UMLS:C2931218 TODO split OMIM out owl:Class HP:0011138 biolink:NamedThing Abnormality of skin adnexa morphology An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. tmpaxzxjjyw_mondo_relaxed.owl Abnormal skin appendage UMLS:C4023518 peter 2011-06-19T06:25:34Z human_phenotype owl:Class HP:0001574 biolink:NamedThing Abnormality of the integument An abnormality of the integument, which consists of the skin and the superficial fascia. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025761 Abnormality of skin, hair, or nails. human_phenotype owl:Class MONDO:0015144 biolink:NamedThing brain inflammatory disease An inflammatory disease involving a pathogenic inflammatory response in the brain. tmpaxzxjjyw_mondo_relaxed.owl brain inflammation|inflammation of brain Orphanet:102005|UMLS:CN197488 owl:Class MONDO:0005156 biolink:NamedThing encephalomyelitis Inflammation of the brain and the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl encephalitis &/or myelitis|central nervous system inflammation|inflammation of central nervous system|encephalitis and/or myelitis DOID:640|UMLS:C0014070|SCTID:62950007|EFO:0001423|MESH:D004679|NCIT:C34580|ICD9:323.9 owl:Class MONDO:0003582 biolink:NamedThing hereditary breast ovarian cancer syndrome An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer. tmpaxzxjjyw_mondo_relaxed.owl hereditary breast ovarian cancer syndrome|syndromes, HBOC|familial breast and ovarian cancer syndrome|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer|hereditary breast and ovarian cancer|hereditary breast and ovarian cancer syndrome|syndrome, HBOC|HBOC syndrome|hereditary breast ovarian cancer|HBOC syndromes|hereditary breast/ovarian cancer (BRCA1, BRCA2)|familial breast/ovarian cancer (BRCA1, BRCA2)|BRCA1- and BRCA2-associated hereditary breast and ovarian cancer (HBOC)|breast-ovarian cancer, familial, susceptibility to ICD10:C50|UMLS:C0677776|OMIM:613399|GARD:0012352|DOID:5683|NCIT:C8493|GARD:0012351|OMIM:612555|SCTID:718220008|Orphanet:145|ICD10:C56|MESH:D061325|OMIMPS:604370|OMIM:614291|OMIM:604370 Editor note: https://github.com/monarch-initiative/mondo/issues/84 owl:Class UBERON:0005749 biolink:NamedThing glomerular tuft tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000838 biolink:NamedThing kidney proximal convoluted tubule epithelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001045 cell owl:Class CL:0002306 biolink:NamedThing epithelial cell of proximal tubule An epithelial cell of the proximal tubule of the kidney. tmpaxzxjjyw_mondo_relaxed.owl kidney proximal tubule epithelial cell KUPO:0001044|FMA:62125|FMA:70973 cell owl:Class UBERON:0000061 biolink:NamedThing anatomical structure Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. tmpaxzxjjyw_mondo_relaxed.owl connected biological structure|biological structure owl:Class UBERON:0000465 biolink:NamedThing material anatomical entity Anatomical entity that has mass. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0090316 biolink:NamedThing positive regulation of intracellular protein transport Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051222 biolink:NamedThing positive regulation of protein transport Any process that activates or increases the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl activation of protein transport|upregulation of protein transport|up regulation of protein transport|up-regulation of protein transport|stimulation of protein transport owl:Class MONDO:0009228 biolink:NamedThing gingival fibromatosis-facial dysmorphism syndrome Gingival fibromatosis - facial dysmorphism is a very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl fibromatosis, gingival, with distinctive facies|gingival fibromatosis with distinctive facies|gingival fibromatosis with craniofacial dysmorphism GARD:0010528|OMIM:228560|Orphanet:2025|UMLS:C1856761|ICD10:Q87.0|MESH:C565567 https://rarediseases.info.nih.gov/diseases/10528/gingival-fibromatosis-with-distinctive-facies owl:Class GO:0010907 biolink:NamedThing positive regulation of glucose metabolic process Any process that increases the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of glucose metabolism owl:Class GO:0010676 biolink:NamedThing positive regulation of cellular carbohydrate metabolic process Any process that increases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000672 biolink:NamedThing exposure to agonist An exposure to agonist. tmpaxzxjjyw_mondo_relaxed.owl exposure to agonist owl:Class MONDO:0005109 biolink:NamedThing HIV infectious disease An infection caused by the human immunodeficiency virus. tmpaxzxjjyw_mondo_relaxed.owl Human immunodeficiency virus caused disease or disorder|HIV infection|human immunodeficiency virus infectious disease|Human immunodeficiency virus infectious disease|Human immunodeficiency virus disease or disorder UMLS:C0019693|ICD9:042|MESH:D015658|ICD10:B20|ICD10:B20.B24|EFO:0000764|SCTID:86406008|NCIT:C3108|DOID:526|ICD10:B20-B20|ICD9:042-042.99 owl:Class MONDO:0022034 biolink:NamedThing lentivirus infection Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection. tmpaxzxjjyw_mondo_relaxed.owl Lentivirus Infection|Lentivirus Infections|Infections, Lentivirus|Disease due to Lentivirus|Infection, Lentivirus|Disease caused by Lentivirus EFO:1001357|UMLS:C0079680|MESH:D016180 owl:Class MONDO:0005570 biolink:NamedThing hematologic disorder A disease involving the hematopoietic system. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of hematopoietic system|hematological disorders and malignancies|hematological disease|rare hematologic disease|blood disorder|disease of the blood and blood-forming organs|disorder of hematopoietic system|blood dyscrasia|hematopoietic system disease|hematological disorder|hematological system disease|blood disease|hematopoietic system disease or disorder|disease of hematopoietic system|hematologic disorder|hematopoietic disease|hematologic and lymphocytic disorder ICD9:289.8|DOID:74|ICD9:280-289.99|UMLS:C0018939|UMLS:CN882913|MESH:D006402|UMLS:CN206939|ICD9:289.9|SCTID:414022008|Orphanet:97992|NCIT:C26323|EFO:0005803|ICD10:D75.9|GTR:AN1320635 placeholder for lymphoid disease https://github.com/monarch-initiative/mondo/issues/254 owl:Class FOODON:00002454 biolink:NamedThing food product by quality A class which contains food product categories qualified by a quality such as granularity or temperature, which is useful for tasks like food inspection where little prior knowledge of how the food came to be is available. Some terms like "food (frozen)" are both a quality descriptor and the output of a process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001002 biolink:NamedThing food product Food material for humans and animals which is processed with the intention that it be consumable as a whole or added to other food products. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019501 biolink:NamedThing Usher syndrome A syndromic diseae characterized by the association of sensorineural deafness (usually congenital) with retinitis pigmentosa and progressive vision loss. tmpaxzxjjyw_mondo_relaxed.owl Graefe-Usher syndrome|dystrophia retinae pigmentosa-dysostosis syndrome|ush|Usher's syndrome|retinitis pigmentosa-deafness syndrome|Hallgren syndrome|deafness-retinitis pigmentosa syndrome ICD10:H35.5|OMIM:614990|OMIM:276901|OMIM:602097|Orphanet:886|OMIM:614869|OMIM:614504|SCTID:57838006|UMLS:C0271097|UMLS:C1568248|OMIM:500004|MESH:D052245|DOID:0050439|OMIM:276902|OMIM:602083|OMIM:606943|OMIMPS:276900|GARD:0007843|MedDRA:10063396|OMIM:611383|NCIT:C85217|OMIM:612632|OMIM:605472|OMIM:276904|OMIM:276900|OMIM:601067 owl:Class MONDO:0020240 biolink:NamedThing syndromic retinitis pigmentosa A retinitis pigmentosa that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with retinitis pigmentosa|syndromic retinitis pigmentosa UMLS:CN227834|Orphanet:98661 owl:Class MONDO:0017286 biolink:NamedThing tempi syndrome TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. tmpaxzxjjyw_mondo_relaxed.owl telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome|telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting Orphanet:284227|UMLS:C3854394|NCIT:C121656|SCTID:718614004|GARD:0010962 https://rarediseases.info.nih.gov/diseases/10962/tempi-syndrome owl:Class MONDO:0003429 biolink:NamedThing functioning pituitary gland adenoma A hormone producing pituitary gland adenoma, associated with a hormonal syndrome. tmpaxzxjjyw_mondo_relaxed.owl secretory pituitary gland adenoma|functioning pituitary gland adenoma|secretory adenoma of pituitary|functioning adenoma of the pituitary|secretory adenoma of the pituitary gland|secretory adenoma of the pituitary|functioning pituitary gland adenoma (benign)|secreting pituitary adenoma|endocrine active pituitary adenoma|secretory pituitary adenoma|secretory adenoma of pituitary gland|functioning pituitary adenoma|functioning adenoma of pituitary|functioning adenoma of the pituitary gland|functioning adenoma of pituitary gland DOID:5395|NCIT:C8388|UMLS:C0854486|Orphanet:314753 owl:Class MONDO:0003604 biolink:NamedThing functioning pituitary gland neoplasm A hormone producing pituitary gland tumor, associated with a hormonal syndrome. tmpaxzxjjyw_mondo_relaxed.owl functioning endocrine neoplasm of pituitary gland|hormone producing pituitary cancer|functioning pituitary tumor|functioning pituitary neoplasm|pituitary tumors, hormone producing|secretory pituitary tumor|hormone producing pituitary neoplasm|pituitary neoplasms, hormone producing|somatotropinoma|functioning pituitary gland neoplasm|pituitary gland functioning endocrine neoplasm UMLS:C3163678|SCTID:448148000|UMLS:C0851693|DOID:5716|UMLS:C0278864|NCIT:C7911|ICD9:237.0|NCIT:C7047 owl:Class MONDO:0013224 biolink:NamedThing rhabdoid tumor predisposition syndrome 2 Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene. tmpaxzxjjyw_mondo_relaxed.owl rhabdoid tumor predisposition syndrome 2|SMARCA4 familial rhabdoid tumor|RTPS2|rhabdoid tumor predisposition syndrome type 2|familial rhabdoid tumor caused by mutation in SMARCA4 UMLS:C2750074|OMIM:613325|MESH:C567643|Orphanet:231108|Orphanet:69077 owl:Class MONDO:0020560 biolink:NamedThing atypical teratoid rhabdoid tumor Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children. tmpaxzxjjyw_mondo_relaxed.owl CNS rhabdoid tumor|atypical teratoid/rhabdoid tumor (morphologic abnormality)|rhabdoid tumor of the CNS|rhabdoid neoplasm of CNS|primary malignant rhabdoid tumor of brain|malignant rhabdoid tumor of the brain|primary malignant rhabdoid tumor of the brain|atypical teratoid/rhabdoid tumor|malignant rhabdoid neoplasm of brain|rhabdoid tumor of central nervous system|malignant brain rhabdoid tumor|rhabdoid neoplasm of the central nervous system|primary malignant brain rhabdoid tumor|primary malignant rhabdoid neoplasm of the brain|malignant brain rhabdoid neoplasm|CNS rhabdoid neoplasm|primary malignant rhabdoid neoplasm of brain|primary malignant brain rhabdoid neoplasm|malignant rhabdoid neoplasm of the brain|rhabdoid tumor of the central nervous system|central nervous system rhabdoid neoplasm|rhabdoid neoplasm of central nervous system|ATT/RHT|atypical teratoid/rhabdoid tumor (WHO grade IV)|malignant rhabdoid tumor of brain|ATRT|rhabdoid tumor of CNS|central nervous system rhabdoid tumor|rhabdoid tumor predisposition syndrome|rhabdoid neoplasm of the CNS|AT/RT NCIT:C6906|ICDO:9508/3|OMIM:609322|ONCOTREE:ATRT|Orphanet:99966|UMLS:C1266184|DOID:2129|EFO:1002008|UMLS:CN207484|ICD10:C49.9 owl:Class MONDO:0006061 biolink:NamedThing cervical artery dissection A tear within the wall of any of the arteries of the neck (carotid artery or vertebral artery) and that allows blood to separate the wall layers. By separating a portion of the wall of the artery (a layer of the Tunica intima or tunica media), a dissection creates two lumens or passages within the vessel, the native or true lumen, and the "false lumen" created by the new space within the wall of the artery. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000059 owl:Class PATO:0001688 biolink:NamedThing increased elevation An elevation which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl high elevation|elevated owl:Class PATO:0001687 biolink:NamedThing elevation A positional quality inhering in a bearer by virtue of the bearer's vertical distance of a point above or below a reference surface. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008549 biolink:NamedThing thoracic dysostosis, isolated tmpaxzxjjyw_mondo_relaxed.owl thoracic dysostosis, isolated MESH:C566063|OMIM:187750|UMLS:C1861204 owl:Class MONDO:0012109 biolink:NamedThing hypertension, essential, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl Hyt4|hypertension, essential, susceptibility to, 4|hypertension, essential, susceptibility to, type 4 UMLS:C1837479|OMIM:608742 owl:Class MONDO:0007781 biolink:NamedThing essential hypertension, genetic An instance of essential hypertension that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic essential hypertension|hypertension, essential|Eht OMIM:145500|UMLS:C0085580 owl:Class MONDO:0003120 biolink:NamedThing mixed testicular germ cell cancer A malignant germ cell tumor that arises from the testis and is characterized by the presence of more than one histologic component. Representative examples include mixed choriocarcinoma and embryonal carcinoma, mixed embryonal carcinoma and seminoma, and mixed yolk sac tumor and teratoma. tmpaxzxjjyw_mondo_relaxed.owl testicular germ cell tumor (mixed)|testis mixed germ cell tumor|mixed germ cell tumor of testis|mixed germ cell neoplasm of the testis|mixed testicular germ cell tumor|testicular mixed germ cell neoplasm|mixed germ cell tumor of the testis|testicular mixed germ cell tumor|mixed germ cell tumor|mixed germ cell neoplasm of testis ONCOTREE:MGCT|UMLS:C1336720|DOID:4743|NCIT:C6347 owl:Class UBERON:0001568 biolink:NamedThing muscle of larynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003831 biolink:NamedThing respiratory system muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032940 biolink:NamedThing retinitis pigmentosa 88 tmpaxzxjjyw_mondo_relaxed.owl RETINITIS PIGMENTOSA 88|RP88 OMIM:618826 owl:Class GO:0046907 biolink:NamedThing intracellular transport The directed movement of substances within a cell. tmpaxzxjjyw_mondo_relaxed.owl single-organism intracellular transport|single organism intracellular transport owl:Class HGNC:2979 biolink:NamedThing DNMT3B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004999 biolink:NamedThing mucosa of biliary tree tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000638 biolink:NamedThing benign glioma A form of glioma without malignant characteristics. tmpaxzxjjyw_mondo_relaxed.owl glioma, benign DOID:0060101 owl:Class GO:0034104 biolink:NamedThing negative regulation of tissue remodeling Any process that stops, prevents, or reduces the frequency, rate, or extent of tissue remodeling. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016485 biolink:NamedThing Usher syndrome type 3 A syndrome characterized by postlingual progressive hearing loss, abnormalities in the vestibular system, and onset of retinitis pigmentosa symptoms usually by the second decade of life. tmpaxzxjjyw_mondo_relaxed.owl USH3|Usher syndrome type 3 OMIM:614504|UMLS:C1568248|OMIM:500004|OMIM:276902|NCIT:C126329|GARD:0005442|ICD10:H35.5|Orphanet:231183|DOID:0110828 owl:Class HGNC:15836 biolink:NamedThing PROKR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015659 biolink:NamedThing infectious disease with epilepsy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:166490|UMLS:CN200068 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: infectious disease' MONDO_0005550 owl:Class MONDO:0021109 biolink:NamedThing inverted urothelial papilloma An endophytic lesion in the urinary tract which shares several morphologic features with urothelial papilloma. This lesion may recur after complete excision. Transitional cell carcinomas may arise within inverted urothelial papillomas. tmpaxzxjjyw_mondo_relaxed.owl urinary tract inverted papilloma|inverted papilloma of urinary tract|urothelium inverted papilloma|inverted urothelial papilloma|IUP UMLS:C1334282|NCIT:C6192|ONCOTREE:IUP owl:Class MONDO:0003064 biolink:NamedThing inverted transitional cell papilloma A benign papillary neoplasm composed of transitional cells and characterized by an endophytic growth pattern. tmpaxzxjjyw_mondo_relaxed.owl transitional papilloma, inverted|inverted transitional cell papilloma|inverted transitional papilloma DOID:4630|ICDO:8121/1|NCIT:C4118|UMLS:C0334269 owl:Class MONDO:0011667 biolink:NamedThing maturity-onset diabetes of the young type 4 Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes. tmpaxzxjjyw_mondo_relaxed.owl MODY, type 4|maturity-onset diabetes of the young (disease) caused by mutation in PDX1|MODY type 4|maturity-onset diabetes of the young, type 4|PDX1 maturity-onset diabetes of the young (disease)|MODY4|PDX1-associated monogenic diabetes|type 4 maturity-onset diabetes of the young|maturity onset diabetes of the Young, type 4|MODY insulin promoter factor-1 related|diabetes mellitus MODY type 4 MESH:C563451|GARD:0010659|Orphanet:552|SCTID:609571007|DOID:0111103|NCIT:C129746|OMIM:606392 https://rarediseases.info.nih.gov/diseases/10659/maturity-onset-diabetes-of-the-young-type-4 owl:Class MONDO:0010441 biolink:NamedThing CK syndrome tmpaxzxjjyw_mondo_relaxed.owl X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome|intellectual disability, X-linked, with thin body habitus and cortical malformation|mental retardation, X-linked, with thin body habitus and cortical malformation|CK syndrome UMLS:C3151781|OMIM:300831|Orphanet:251383 owl:Class MONDO:0012316 biolink:NamedThing Majeed syndrome Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis. tmpaxzxjjyw_mondo_relaxed.owl chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome|congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis|Majeed syndrome|chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic Anemia, and neutrophilic dermatosis|MJDS|chronic recurrent multifocal osteomyelitis, congenital|CDA and CRMO|dyserythropoietic anemia, and neutrophilic dermatosis|MAJEED syndrome Orphanet:77297|ICD9:759.89|GARD:0010088|NCIT:C119058|OMIM:609628|MESH:C537839|MedDRA:10072223|SCTID:703540008|UMLS:C1864997 https://rarediseases.info.nih.gov/diseases/10088/majeed-syndrome owl:Class MONDO:0017370 biolink:NamedThing autoinflammatory syndrome with skin involvement tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN203043|Orphanet:290842 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: autoinflammatory syndrome' MONDO_0019751 owl:Class MONDO:0014249 biolink:NamedThing multiple fibroadenoma of the breast Mammary polyadenomatosis is characterised by the presence in both breasts of multiple voluminous fibroadenomas with heterogeneous echo patterns. tmpaxzxjjyw_mondo_relaxed.owl multiple fibroadenomas of the breast|MFAB|mammary polyadenomatosis OMIM:615554|UMLS:C3809918|Orphanet:50920|ICD10:D24 owl:Class MONDO:0000620 biolink:NamedThing breast benign neoplasm A non-metastasizing neoplasm arising from the breast parenchyma. tmpaxzxjjyw_mondo_relaxed.owl benign breast tumor|benign neoplasm of breast|benign breast neoplasm|benign neoplasm of the breast|breast benign neoplasm|benign tumor of the breast|benign tumor of breast DOID:0060082|SCTID:269485000|NCIT:C4505|ICD9:217 owl:Class GO:0045276 biolink:NamedThing plasma membrane respiratory chain complex III A part of the respiratory chain located in the plasma membrane, containing about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. Examples of this component are found in bacterial species. tmpaxzxjjyw_mondo_relaxed.owl respiratory chain complex III|ubiquinol-cytochrome-c reductase complex|plasma membrane coenzyme Q-cytochrome c oxidoreductase complex|plasma membrane ubiquinol-cytochrome-c reductase complex|plasma membrane cytochrome bc1 complex|plasma membrane coenzyme Q-cytochrome c reductase complex|ubiquinol-cytochrome c oxidoreductase complex owl:Class GO:0045275 biolink:NamedThing respiratory chain complex III A protein complex that transfers electrons from ubiquinol to cytochrome c and translocates two protons across a membrane. The complex contains a core structure of three catalytic subunits: cytochrome b, the Rieske iron sulfur protein (ISP), and cytochrome c1, which are arranged in an integral membrane-bound dimeric complex; additional subunits are present, and vary among different species. tmpaxzxjjyw_mondo_relaxed.owl complex III|ubiquinol-cytochrome-c reductase complex|coenzyme Q-cytochrome c oxidoreductase complex|cytochrome bc(1) complex|electron transport complex III|coenzyme Q-cytochrome c reductase complex|cytochrome bc1 complex|ubiquinol-cytochrome c oxidoreductase complex|CoQH2-cytochrome c reductase complex owl:Class MONDO:0015779 biolink:NamedThing 45,X/46,XY mixed gonadal dysgenesis 45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development. tmpaxzxjjyw_mondo_relaxed.owl 45,X/46,XY MGD|45,X0/46,XY MGD|Mixed gonadal dysgenesis|45,X0/46,XY mixed gonadal dysgenesis|45,X/46,XY gonadal dysgenesis|45,X/46,XY disorder of Sex development|XY/X0 ICD10:Q98.7|DOID:0080656|NCIT:C120199|Orphanet:1772 owl:Class MONDO:0001967 biolink:NamedThing gonadal dysgenesis A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics. tmpaxzxjjyw_mondo_relaxed.owl gonadal dysgenesis syndrome ICD9:758.6|DOID:14447|SCTID:38804009|MESH:D006059|NCIT:C61420|GARD:0002538|SCTID:205681004 https://rarediseases.info.nih.gov/diseases/2538/gonadal-dysgenesis owl:Class HP:0001882 biolink:NamedThing Leukopenia An abnormal decreased number of leukocytes in the blood. tmpaxzxjjyw_mondo_relaxed.owl Low white blood cell count|Decreased blood leukocyte number MSH:D007970|SNOMEDCT_US:84828003|UMLS:C0023530 human_phenotype owl:Class HP:0011893 biolink:NamedThing Abnormal leukocyte count Number of leukocytes per volume of blood beyond normal limits. tmpaxzxjjyw_mondo_relaxed.owl Abnormal white blood cell count SNOMEDCT_US:165509000|UMLS:C0580531 peter 2012-06-02T05:32:39Z human_phenotype owl:Class MONDO:0010261 biolink:NamedThing microphthalmia, syndromic 2 tmpaxzxjjyw_mondo_relaxed.owl microphthalmia cataracts radiculomegaly and septal heart defects|OFCD syndrome|microphthalmia, cataracts, radiculomegaly, and septal heart defects|MAA2 (formerly)|syndromic microphthalmia type 2|oculofaciocardiodental syndrome|cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome|MCOPS2|microphthalmia syndromic 2|microphthalmia, syndromic 2|ANOP2 (formerly)|microphthalmia, syndromic type 2 ICD10:Q87.8|SCTID:699300009|Orphanet:2712|Orphanet:568|ICD9:759.89|GARD:0004628|OMIM:300166 https://github.com/monarch-initiative/mondo/issues/2999 owl:Class CHEBI:64047 biolink:NamedThing food additive Any substance which is added to food to preserve or enhance its flavour and/or appearance. tmpaxzxjjyw_mondo_relaxed.owl food additives owl:Class CHEBI:78295 biolink:NamedThing food component A physiological role played by any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants.|Any substance that is distributed in foodstuffs. It includes materials derived from plants or animals, such as vitamins or minerals, as well as environmental contaminants. tmpaxzxjjyw_mondo_relaxed.owl food components|dietary components|dietary component owl:Class UBERON:0005146 biolink:NamedThing metanephric nephron tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005134 biolink:NamedThing metanephric nephron epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014488 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 5 Any type 2 diabetes mellitus in which the cause of the disease is a mutation in the TBC1D4 gene. tmpaxzxjjyw_mondo_relaxed.owl type 2 diabetes mellitus caused by mutation in TBC1D4|NIDDM5|TBC1D4 type 2 diabetes mellitus|diabetes mellitus, noninsulin-dependent, 5|diabetes mellitus, noninsulin-dependent, type 5 UMLS:C4015183|OMIM:616087 owl:Class MONDO:0005148 biolink:NamedThing type 2 diabetes mellitus A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, type 2, protection against|diabetes mellitus, type 2|non-insulin dependent diabetes|NIDDM|diabetes mellitus, noninsulin-dependent|non-insulin dependent diabetes mellitus|type 2 diabetes|type 2 diabetes mellitus non-insulin dependent|type II diabetes|non-insulin-dependent diabetes mellitus|noninsulin-dependent diabetes mellitus|type II diabetes mellitus|maturity-onset diabetes|T2DM - type 2 diabetes mellitus|adult-onset diabetes|noninsulin dependent diabetes|type 2 diabetes mellitus|diabetes mellitis type II|insulin resistance, susceptibility to|diabetes, type 2|adult onset diabetes|diabetes mellitis type 2 OMIM:608036|KEGG:04930|OMIM:601283|EFO:0001360|OMIM:125853|OMIM:601407|UMLS:CN244395|MESH:D003924|SCTID:44054006|NCIT:C26747|DOID:9352|OMIM:603694|OMIM:616087|ICD10:E11 owl:Class HGNC:3705 biolink:NamedThing FIBP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044714 biolink:NamedThing mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome tmpaxzxjjyw_mondo_relaxed.owl myopathy, mitochondrial, and ataxia|MMYAT|mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome OMIM:617675|UMLS:CN484737|Orphanet:502423 owl:Class MONDO:0010131 biolink:NamedThing thyroid hormone resistance, generalized, autosomal recessive A rare, autosomal recessive inherited disorder usually caused by mutations in the THRB gene. It is characterized by a defective physiological resistance to thyroid hormones, resulting in the elevation of thyroxin and triiodothyronine in the serum. tmpaxzxjjyw_mondo_relaxed.owl Gthr|thyroid hormone receptor BETA|thyroid hormone Resistance|thyroid hormone resistance, generalized, autosomal recessive|Refetoff syndrome|thyroid hormone unresponsiveness|GRTH|THRB|thyroid hormone Resistance syndrome OMIM:274300|HGNC:11799|Orphanet:3221|GARD:0000301|NCIT:C85191 owl:Class MONDO:0034217 biolink:NamedThing resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta tmpaxzxjjyw_mondo_relaxed.owl OMIM:188570|OMIM:274300|Orphanet:566243|ICD10:E07.8 owl:Class MONDO:0015110 biolink:NamedThing genetic cardiac rhythm disease An instance of cardiac rhythm disease that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic cardiac rhythm disease Orphanet:101934|UMLS:CN197467 owl:Class MONDO:0043137 biolink:NamedThing isolated microcephaly tmpaxzxjjyw_mondo_relaxed.owl microcephaly, non-syndromic|nonsyndromic microcephaly|Nonsyndromal microcephaly MESH:C537542|GARD:0003630 owl:Class GO:0019724 biolink:NamedThing B cell mediated immunity Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. tmpaxzxjjyw_mondo_relaxed.owl B-cell mediated immunity|B lymphocyte mediated immune effector process|B-cell mediated immune effector process|B-lymphocyte mediated immune effector process|B-lymphocyte mediated immunity|B lymphocyte mediated immunity owl:Class GO:0002449 biolink:NamedThing lymphocyte mediated immunity Any process involved in the carrying out of an immune response by a lymphocyte. tmpaxzxjjyw_mondo_relaxed.owl cellular immune response|cell-mediated immunity owl:Class UBERON:0008242 biolink:NamedThing lower back muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002324 biolink:NamedThing muscle of back tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007101 biolink:NamedThing familial primary localized cutaneous amyloidosis tmpaxzxjjyw_mondo_relaxed.owl hereditary primary cutaneous amyloidosis|FPLCA|primary localized cutaneous amyloidosis Orphanet:137807|UMLS:CN204529|Orphanet:353220|ICD10:E85.4+|MESH:C562643|ICD10:L99.0*|OMIM:105250|OMIM:613955|OMIMPS:105250 owl:Class HGNC:9118 biolink:NamedThing PMP22 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001608 biolink:NamedThing vagus nerve neoplasm A neoplasm involving a vagus nerve. tmpaxzxjjyw_mondo_relaxed.owl Vagus nerve tumors|vagus nerve tumor|tumor of the Vagus nerve|Vagus nerve neoplasm|Vagus nerve tumor|neoplasm of tenth cranial nerve|tumor of the tenth cranial nerve|tumor of vagus nerve|tenth cranial nerve tumors|neoplasm of the tenth cranial nerve|tenth cranial nerve neoplasm|Xth cranial nerve neoplasms|Vagus nerve neoplasms|tenth cranial nerve neoplasms|neoplasm of Vagus nerve|neoplasm of vagus nerve|Xth cranial nerve tumors|tumor of Vagus nerve|tenth cranial nerve tumor|vagus nerve neoplasm (disease)|tumor of tenth cranial nerve|neoplasm of the Vagus nerve NCIT:C5831|DOID:12984|UMLS:C1263901|SCTID:126976007|ICD9:239.7 owl:Class MONDO:0002638 biolink:NamedThing glossopharyngeal nerve neoplasm A neoplasm involving a glossopharyngeal nerve. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the Ninth cranial nerve|Ninth cranial nerve neoplasms|Ninth cranial nerve tumor|glossopharyngeal nerve tumor|glossopharyngeal nerve tumors|IXth cranial nerve neoplasms|neoplasm of Ninth cranial nerve|neoplasm of the glossopharyngeal nerve|glossopharyngeal nerve neoplasms|IXth cranial nerve tumors|tumor of Ninth cranial nerve|Ninth cranial nerve neoplasm|tumor of glossopharyngeal nerve|tumor of the Ninth cranial nerve|glossopharyngeal nerve neoplasm (disease)|neoplasm of glossopharyngeal nerve|Ninth cranial nerve tumors|tumor of the glossopharyngeal nerve|glossopharyngeal nerve neoplasm ICD9:239.7|NCIT:C5828|SCTID:126975006|DOID:3417|UMLS:C1263900 owl:Class GO:0046580 biolink:NamedThing negative regulation of Ras protein signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of Ras protein signal transduction. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of Ras protein signal transduction|downregulation of Ras protein signal transduction|down regulation of Ras protein signal transduction|inhibition of Ras protein signal transduction owl:Class GO:0046578 biolink:NamedThing regulation of Ras protein signal transduction Any process that modulates the frequency, rate or extent of Ras protein signal transduction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25415 biolink:NamedThing PPM1K tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009774 biolink:NamedThing cloacal exstrophy A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations. tmpaxzxjjyw_mondo_relaxed.owl omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects|cloacal exstrophy (disease)|omphalocele-exstrophy-imperforate anus-spinal defects|cloacal exstrophy|OEIS complex|omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex|omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome|OEIS syndrome|omphalocele - cloacal exstrophy - imperforate anus - spinal defect|cloacal exstrophy sequence cloacal exstrophy (disease) ICD9:759.89|SCTID:20815007|NCIT:C99142|Orphanet:93929|GARD:0004080|HP:0010475|OMIM:258040|UMLS:C1850321|MedDRA:10067424|Orphanet:322|DOID:0080175|MESH:C537748|ICD10:Q64.1 owl:Class MONDO:0019573 biolink:NamedThing autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa, type 2 (ARCL2) appears to cover a spectrum of connective tissue disorders characterized by the association of wrinkled, redundant and sagging inelastic skin with growth and developmental delay, and skeletal anomalies. The spectrum ranges from patients with classic ARCL2 (ARCL, DebrC) type) to patients with a milder form of the disease, wrinkled skin syndrome (WSS). tmpaxzxjjyw_mondo_relaxed.owl cutis laxa with joint laxity and developmental delay|ARCL2 Orphanet:90350|ICD10:Q82.8 owl:Class MONDO:0018047 biolink:NamedThing familial thrombomodulin anomalies tmpaxzxjjyw_mondo_relaxed.owl thrombomodulin anomalies, familial ICD10:D68.8|HGNC:11784|GARD:0005195|Orphanet:3324|UMLS:C2931365|MESH:C536900 https://rarediseases.info.nih.gov/diseases/5195/thrombomodulin-anomalies-familial owl:Class MONDO:0100450 biolink:NamedThing CAPN5-related vitreoretinopathy An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients. tmpaxzxjjyw_mondo_relaxed.owl CAPN5 vitreoretinopathy|proliferative vitreoretinopathy|VRNI|vitreoretinopathy, neovascular inflammatory|ADNIV|autosomal dominant neovascular inflammatory vitreoretinopathy|vitreoretinopathy, neovascular inflammatory, autosomal dominant|retinitis proliferans owl:Class GO:0006699 biolink:NamedThing bile acid biosynthetic process The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile. tmpaxzxjjyw_mondo_relaxed.owl bile acid synthesis|bile acid formation|bile acid anabolism|bile acid biosynthesis owl:Class GO:1901617 biolink:NamedThing organic hydroxy compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic hydroxy compound. tmpaxzxjjyw_mondo_relaxed.owl organic hydroxy compound formation|organic hydroxy compound synthesis|organic hydroxy compound biosynthesis|organic hydroxy compound anabolism owl:Class MONDO:0024662 biolink:NamedThing colorectal tubulovillous adenoma A neoplasm that arises from the glandular epithelium of the colonic and rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. tmpaxzxjjyw_mondo_relaxed.owl tubulovillous adenoma of the large bowel|colorectal tubulovillous adenoma|large bowel tubulovillous adenoma|tubulovillous adenoma of large bowel UMLS:C1333118|NCIT:C5675 owl:Class MONDO:0015706 biolink:NamedThing mosaic trisomy 1 tmpaxzxjjyw_mondo_relaxed.owl Mosaic trisomy type 1|trisomy 1 mosaicism|Mosaic trisomy chromosome 1 ICD10:Q92.1|Orphanet:1692|UMLS:CN073987 owl:Class MONDO:0700008 biolink:NamedThing chromosome 1 disorder Chromosomal disorder in which chromosome 1 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0009262 biolink:NamedThing GM1 gangliosidosis type 3 GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis characterized by onset generally during childhood or adolescence and by cerebellar dysfunction. tmpaxzxjjyw_mondo_relaxed.owl GM1-gangliosidosis, type 3|adult GM1 gangliosidosis|adult-onset GM1 gangliosidosis|GM1-gangliosidosis, type III|gangliosidosis, generalized GM1, type 3|Beta-galactosidase deficiency type 3|gangliosidosis, generalized GM1, chronic type|gangliosidosis generalized GM1 chronic type|gangliosidosis, generalized GM1, adult type|gangliosidosis GM1 type 3 DOID:0080489|ICD10:E75.1|GARD:0002431|SCTID:238027003|Orphanet:354|Orphanet:79257|OMIM:230650 https://rarediseases.info.nih.gov/diseases/2431/gm1-gangliosidosis-type-3 owl:Class MONDO:0018149 biolink:NamedThing GM1 gangliosidosis A rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features. tmpaxzxjjyw_mondo_relaxed.owl Landing syndrome|GM>1< gangliosidosis|Landing disease|Beta-galactosidase-1 deficiency|Beta-galactosidosis|GLB 1 deficiency|Beta-galactosidase deficiency|Beta galactosidase 1 deficiency|GLB1 deficiency|deficiency of beta-galactosidase|gangliosidosis GM1|beta-galactosidase deficiency OMIM:230600|UMLS:C0085131|OMIM:230650|DOID:3322|MESH:D016537|OMIM:230500|GARD:0010891|NCIT:C84739|ICD10:E75.1|ICD10:E75.19|SCTID:124465002|Orphanet:354|ICD9:277.6 owl:Class HGNC:21307 biolink:NamedThing DSG4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008275 biolink:NamedThing familial expansile osteolysis tmpaxzxjjyw_mondo_relaxed.owl EOF|polyostotic osteolytic dysplasia, hereditary expansile|osteolysis, familial expansile|Mccabe disease|McCabe disease|expansile osteolysis, familial|HEPOD|FEO|hereditary expansile polyostotic osteolytic dysplasia|familial expansile osteolysis ICD9:756.9|MESH:C536335|ICD10:M89.5|Orphanet:85195|SCTID:254153009|OMIM:174810|DOID:0111542|GARD:0009168 owl:Class MONDO:0019707 biolink:NamedThing primary osteolysis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93449 owl:Class MONDO:0044699 biolink:NamedThing SIN3A-related intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:500163 owl:Class MONDO:0100060 biolink:NamedThing congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements Congenital/infantile spindle cell rhabdomyosarcoma characterized by the presence of gene fusions involving the VGLL2, SRF, TEAD1, NCOA2, and CITED2 genes. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C178232 http://orcid.org/0000-0001-5208-3432 owl:Class GO:1903532 biolink:NamedThing positive regulation of secretion by cell Any process that activates or increases the frequency, rate or extent of secretion by cell. tmpaxzxjjyw_mondo_relaxed.owl upregulation of cellular secretion|up regulation of secretion by cell|positive regulation of cellular secretion|upregulation of secretion by cell|activation of secretion by cell|up-regulation of cellular secretion|up regulation of cellular secretion|activation of cellular secretion|up-regulation of secretion by cell owl:Class MONDO:0009089 biolink:NamedThing deafness-oligodontia syndrome Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl deafness-oligodontia syndrome|autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia|congenital profound sensorineural deafness and oligodontia|deafness oligodontia syndrome OMIM:221740|Orphanet:3230|GARD:0001698|UMLS:C1857333|MESH:C538049 https://rarediseases.info.nih.gov/diseases/1698/deafness-oligodontia-syndrome owl:Class HGNC:3239 biolink:NamedThing EGR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030913 biolink:NamedThing intellectual disability, autosomal dominant 48 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal dominant 48|mental retardation, autosomal dominant 48|autosomal dominant mental retardation 48|autosomal dominant intellectual disability 48|microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom|MRD48 UMLS:CN580791|EFO:0009156|Orphanet:500159|DOID:0080235|OMIM:617751 owl:Class GO:0060457 biolink:NamedThing negative regulation of digestive system process Any process that decreases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017226 biolink:NamedThing Pelizaeus-Merzbacher-like disease Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD). tmpaxzxjjyw_mondo_relaxed.owl PMLD OMIM:300523|GARD:0012300|OMIM:260600|ICD10:E75.2|OMIM:612233|Orphanet:280270|OMIM:608804|SCTID:717042001 https://rarediseases.info.nih.gov/diseases/12300/pelizaeus-merzbacher-like-disease owl:Class HGNC:23212 biolink:NamedThing MYH14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020795 biolink:NamedThing Silver-Russell syndrome 5 tmpaxzxjjyw_mondo_relaxed.owl SRS5|Silver-Russell syndrome 5|SILVER-RUSSELL SYNDROME 5 OMIM:618908 owl:Class MONDO:0008394 biolink:NamedThing Silver-Russell syndrome Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry. tmpaxzxjjyw_mondo_relaxed.owl Silver Russell dwarfism|Silver-Russell syndrome|Russell-Silver dwarfism|Russell Silver syndrome|SRS|Silver Russell syndrome|Russell-Silver syndrome|Silver-Russell dwarfism NCIT:C85068|OMIM:312780|UMLS:C0175693|MedDRA:10062282|ICD10:Q87.1|SCTID:15069006|GARD:0004870|DOID:14681|MESH:D056730|OMIM:616489|OMIMPS:180860|Orphanet:813|ICD9:759.89 owl:Class MONDO:0010758 biolink:NamedThing Wieacker-Wolff syndrome A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl MCS|MRXS4|Wieacker Wolff syndrome|contractures of feet, muscle atrophy, and oculomotor apraxia|WRWFXLR|mental retardation, X-linked, syndromic 4|WRWF|mental retardation, X-linked, with congenital contractures and low fingertip arches|apraxia, oculomotor, with congenital contractures and muscle atrophy|Miles-Carpenter syndrome|Miles-CARPENTER X-linked mental retardation syndrome|mental retardation, X-linked, with congenital contractures and Low fingertip arches|Wieacker-Wolff syndrome|Wieacker syndrome|Wieacker-Wolff syndrome, X-linked|X-linked intellectual disability, Miles-Carpenter type|intellectual disability-developmental delay-contractures syndrome|foot contractures-muscle atrophy-oculomotor apraxia syndrome SCTID:722456001|ICD10:Q87.8|GARD:0007890|OMIM:314580|Orphanet:3454|MESH:C537472|SCTID:719012009|Orphanet:85283|GARD:0009984|MESH:C536703|ICD10:G71.8|DOID:0060815 owl:Class GO:0002578 biolink:NamedThing negative regulation of antigen processing and presentation Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of antigen processing and presentation|down-regulation of antigen processing and presentation|inhibition of antigen processing and presentation|downregulation of antigen processing and presentation owl:Class GO:0002577 biolink:NamedThing regulation of antigen processing and presentation Any process that modulates the frequency, rate, or extent of antigen processing and presentation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015129 biolink:NamedThing epicardial fat tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001013 biolink:NamedThing adipose tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010336 biolink:NamedThing mandibular process mesenchyme from neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004149 biolink:NamedThing gallbladder pleomorphic giant cell adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl pleomorphic giant cell adenocarcinoma of the gallbladder DOID:7222 owl:Class MONDO:0006215 biolink:NamedThing gallbladder adenocarcinoma A carcinoma that arises from glandular epithelial cells of the gall bladder. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of gallbladder|adenocarcinoma of the gallbladder|gall bladder adenocarcinoma|gallbladder adenocarcinoma DOID:3500|UMLS:C0279651|NCIT:C9166|EFO:1000262 owl:Class MONDO:0013046 biolink:NamedThing glycogen storage disease due to muscle beta-enolase deficiency Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle. tmpaxzxjjyw_mondo_relaxed.owl GSD 13|GSDXIII|muscular enolase deficiency|glycogen storage disease XIII|glycogen storage disease 13|GSD13|enolase-Beta deficiency|glycogenosis type 13|muscle enolase deficiency|glycogenosis due to muscle beta-enolase deficiency|glycogen storage disease type 13|glycogen storage disease due to muscle beta-enolase deficiency|enolase 3 deficiency|GSD due to muscle beta-enolase deficiency MESH:C567861|ICD10:E74.0|GARD:0002125|OMIM:612932|UMLS:C2752027|Orphanet:99849 owl:Class CHEBI:39745 biolink:NamedThing dihydrogenphosphate A monovalent inorganic anion that consists of phosphoric acid in which one of the three OH groups has been deprotonated. tmpaxzxjjyw_mondo_relaxed.owl [PO2(OH)2](-)|DIHYDROGENPHOSPHATE ION|dihydrogentetraoxophosphate(V)|dihydrogentetraoxophosphate(1-)|H2PO4(-)|dihydroxidodioxidophosphate(1-)|dihydrogen(tetraoxidophosphate)(1-)|dihydrogenphosphate owl:Class CHEBI:79389 biolink:NamedThing monovalent inorganic anion Any inorganic anion with a valency of one. tmpaxzxjjyw_mondo_relaxed.owl monovalent inorganic anions owl:Class UBERON:0013504 biolink:NamedThing caudal vertebra pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011095 biolink:NamedThing vertebra pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010232 biolink:NamedThing intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms. tmpaxzxjjyw_mondo_relaxed.owl intestinal pseudoobstruction neuronal chronic idiopathic X-linked|congenital short bowel syndrome, X-linked|Ipox|CIIP|CIIP X-linked|intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked|Ciip, X-linked|CIIPX|congenital idiopathic intestinal pseudoobstruction|intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement Orphanet:2978|GARD:0003017|Orphanet:2301|MESH:C535532|OMIM:300048 https://rarediseases.info.nih.gov/diseases/3017/intestinal-pseudoobstruction-neuronal-chronic-idiopathic-x-linked owl:Class MONDO:0014097 biolink:NamedThing congenital short bowel syndrome Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive. tmpaxzxjjyw_mondo_relaxed.owl congenital short bowel syndrome|CSBS ICD10:Q43.8|OMIM:615237|Orphanet:2301|OMIM:300048|SCTID:715201005 owl:Class MONDO:0021535 biolink:NamedThing pancreatic neuroendocrine tumor G1 A low grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal or less than 2%. tmpaxzxjjyw_mondo_relaxed.owl pancreatic NET G1|pancreas NET G1|grade 1 neuroendocrine neoplasm of pancreas|pancreas carcinoid tumor|pancreas neuroendocrine neoplasm G1|pancreatic neuroendocrine tumor G1|pancreas neuroendocrine tumor, well differentiated, low grade NCIT:C95584|SCTID:254613007 owl:Class MONDO:0019954 biolink:NamedThing pancreatic neuroendocrine tumor Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma). tmpaxzxjjyw_mondo_relaxed.owl pancreatic endocrine tumor|well-differentiated NEN of pancreas|islet cell tumors - pancreas|well-differentiated pancreatic neuroendocrine neoplasm|well-differentiated pancreatic NEN|islet cell tumor|pancreatic NET|islet cell tumors of the pancreas|PANET|well differentiated pancreatic endocrine tumor|well differentiated pancreatic endocrine neoplasm|well-differentiated neuroendocrine neoplasm of pancreas|pancreatic neuroendocrine tumor|neuroendocrine tumor of pancreas GARD:0013034|EFO:1000045|ICD10:E16.8|ONCOTREE:PANET|Orphanet:97253|DOID:1799|NCIT:C27720|ICDO:8150/1 owl:Class MONDO:0054732 biolink:NamedThing spermatogenic failure 28 tmpaxzxjjyw_mondo_relaxed.owl SPGF28|spermatogenic failure 28 OMIM:618086 owl:Class MONDO:0008563 biolink:NamedThing thumb stiffness-brachydactyly-intellectual disability syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case. tmpaxzxjjyw_mondo_relaxed.owl Piussan-Lenaerts-Mathieu syndrome|thumb stiff brachydactyly mental retardation|Thumb ankylosis with mental retardation|thumb stiff brachydactyly intellectual disability|Thumb ankylosis with intellectual disability|thumbs, STIFF, with brachydactyly type A1 and developmental delay GARD:0004375|GARD:0005200|OMIM:188201|ICD10:Q87.2|Orphanet:1078 owl:Class MONDO:0019054 biolink:NamedThing congenital limb malformation tmpaxzxjjyw_mondo_relaxed.owl congenital limb malformation Orphanet:68378 owl:Class GO:0061311 biolink:NamedThing cell surface receptor signaling pathway involved in heart development Any series of molecular signals initiated by the binding of a receptor on the surface of a cell to a physiological ligand, which contributes to the progression of the heart over time. tmpaxzxjjyw_mondo_relaxed.owl cell surface receptor linked signaling pathway involved in heart development|cell surface receptor linked signalling pathway involved in heart development owl:Class GO:0007166 biolink:NamedThing cell surface receptor signaling pathway A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. tmpaxzxjjyw_mondo_relaxed.owl cell surface receptor linked signal transduction|cell surface receptor linked signalling pathway|cell surface receptor linked signaling pathway owl:Class GO:0006555 biolink:NamedThing methionine metabolic process The chemical reactions and pathways involving methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. tmpaxzxjjyw_mondo_relaxed.owl methionine metabolism|methionine and threonine metabolic process|methionine and threonine metabolism owl:Class MONDO:0001720 biolink:NamedThing gonococcal synovitis An synovitis (disease) caused by infection with Neisseria gonorrhoeae. tmpaxzxjjyw_mondo_relaxed.owl gonococcal synovitis and tenosynovitis|gonococcal synovitis or tenosynovitis|gonococcal synovitis &/or tenosynovitis ICD9:098.51|UMLS:C0343714|DOID:13454|UMLS:C0275662|SCTID:266138002 owl:Class MONDO:0012500 biolink:NamedThing chilblain lupus 1 Any chilblain lupus in which the cause of the disease is a mutation in the TREX1 gene. tmpaxzxjjyw_mondo_relaxed.owl chilblain lupus type 1|chilblain lupus caused by mutation in TREX1|chilblain lupus 1|TREX1 chilblain lupus|CHBL1 Orphanet:90280|OMIM:610448 owl:Class MONDO:0010785 biolink:NamedThing maternally-inherited diabetes and deafness Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness. tmpaxzxjjyw_mondo_relaxed.owl diabetes-deafness syndrome, maternally Transmitted|Ballinger Wallace syndrome|Ballinger-Wallace syndrome|diabetes and deafness, maternally inherited|MIDD|Niddm with deafness|diabetes mellitus, type II, with deafness|maternally inherited diabetes and deafness|noninsulin-dependent diabetes mellitus with deafness|mitochondrial diabetes|diabetes mellitus type II with deafness NCIT:C131859|GARD:0004003|SCTID:237619009|UMLS:C0342289|Orphanet:225|ICD9:250.80|UMLS:C4330695|ICD10:E13.8|MESH:C536246|OMIM:520000 https://rarediseases.info.nih.gov/diseases/4003/maternally-inherited-diabetes-and-deafness owl:Class GO:0031330 biolink:NamedThing negative regulation of cellular catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cellular degradation|down regulation of cellular catabolic process|negative regulation of cellular catabolism|downregulation of cellular catabolic process|negative regulation of cellular breakdown|down-regulation of cellular catabolic process|inhibition of cellular catabolic process owl:Class GO:1904782 biolink:NamedThing negative regulation of NMDA glutamate receptor activity Any process that stops, prevents or reduces the frequency, rate or extent of NMDA glutamate receptor activity. tmpaxzxjjyw_mondo_relaxed.owl inhibition of NMDA receptor|down-regulation of NMDA glutamate receptor activity|inhibition of NMDA glutamate receptor activity|downregulation of N-methyl-D-aspartate selective glutamate receptor activity|downregulation of NMDA glutamate receptor activity|negative regulation of NMDA receptor|down regulation of N-methyl-D-aspartate selective glutamate receptor activity|down-regulation of N-methyl-D-aspartate selective glutamate receptor activity|inhibition of N-methyl-D-aspartate selective glutamate receptor activity|negative regulation of N-methyl-D-aspartate selective glutamate receptor activity|down regulation of NMDA receptor|down-regulation of NMDA receptor|downregulation of NMDA receptor|down regulation of NMDA glutamate receptor activity owl:Class GO:2001258 biolink:NamedThing negative regulation of cation channel activity Any process that stops, prevents or reduces the frequency, rate or extent of cation channel activity. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of nonselective cation channel activity|negative regulation of cation diffusion facilitator activity owl:Class MONDO:0008124 biolink:NamedThing omphalocele, autosomal tmpaxzxjjyw_mondo_relaxed.owl type - epigastric - defect in the cephalic fold|paraomphalocele|omphalocele, autosomal|chromosome 1P31 Duplication syndrome|type - hypogastric - defect in the caudal fold Orphanet:660|UMLS:C0795690|GARD:0004218|OMIM:164750|UMLS:C3277235 owl:Class GO:0009166 biolink:NamedThing nucleotide catabolic process The chemical reactions and pathways resulting in the breakdown of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). tmpaxzxjjyw_mondo_relaxed.owl nucleotide degradation|nucleotide breakdown|nucleotide catabolism owl:Class GO:0009117 biolink:NamedThing nucleotide metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). tmpaxzxjjyw_mondo_relaxed.owl nucleotide metabolism owl:Class MONDO:0018002 biolink:NamedThing adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is a rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. tmpaxzxjjyw_mondo_relaxed.owl adult-onset CPEO with mitochondrial myopathy Orphanet:329336|SCTID:725464001|UMLS:C4511138|ICD10:G71.3|OMIM:616479 owl:Class MONDO:0030917 biolink:NamedThing intellectual disability, autosomal dominant 51 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal dominant 51|MRD51|autosomal dominant mental retardation 51|mental retardation, autosomal dominant 51|autosomal dominant intellectual disability 51 OMIM:617788|UMLS:CN671931|DOID:0080232 owl:Class MONDO:0006742 biolink:NamedThing endemic goiter Thyroid gland enlargement caused by inadequate dietary iodine intake. It occurs in areas in which the soil lacks iodine compounds or there is low seafood consumption. tmpaxzxjjyw_mondo_relaxed.owl simple goiter|simple goitre|iodine-deficiency-related endemic goitre EFO:1000916|MedDRA:10068848|DOID:13198|ICD9:240.0|ICD10:E01.2|SCTID:56805008|NCIT:C35023|ICD10:E01.0|MESH:D006043 owl:Class MONDO:0001093 biolink:NamedThing colonic lymphangioma A lymphangioma arising from the colon. tmpaxzxjjyw_mondo_relaxed.owl lymphangioma of the colon|lymphangioma of colon|colonic lymphangioma|colon lymphangioma UMLS:C1333094|DOID:10657|NCIT:C5500 owl:Class MONDO:0002013 biolink:NamedThing lymphangioma A benign lesion composed of dilated lymphatic channels. Painless swelling is the usual clinical manifestation. tmpaxzxjjyw_mondo_relaxed.owl LM|benign lymphangioma (morphologic abnormality)|congenital lymphangioma|lymphangioma|benign lymphangioma|lymphangioma, benign ICDO:9170/0|MESH:D008202|ICD9:228.1|Orphanet:2415|SCTID:400178008|GARD:0009789|DOID:1475|UMLS:CN201700|ICD10:D18.1|NCIT:C8965|SCTID:254836000 owl:Class UBERON:0000461 biolink:NamedThing minor vestibular gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010145 biolink:NamedThing paraurethral gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016528 biolink:NamedThing white matter of frontal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051302 biolink:NamedThing regulation of cell division Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019202 biolink:NamedThing myxofibrosarcoma A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. tmpaxzxjjyw_mondo_relaxed.owl MFS|myxoid MFH|myxofibrosarcoma|fibromyxosarcoma|myxoid malignant fibrous histiocytoma|myxoid fibrous histiocytoma ICDO:8811/3|ONCOTREE:MFS|Orphanet:79105|NCIT:C6496|DOID:0080534|MedDRA:10066948|ICD10:C49.9|SCTID:253042009 owl:Class MONDO:0003409 biolink:NamedThing colonic disorder Pathological processes in the colon region of the large intestine (intestine, large). tmpaxzxjjyw_mondo_relaxed.owl colon disease or disorder|disease or disorder of colon|disease of colon|colon disorder|colon disease|disorder of colon DOID:5353|UMLS:C0009373|MESH:D003108|SCTID:128524007 owl:Class MONDO:0018992 biolink:NamedThing IgG4-related thyroid disease Riedel thyroiditis is a fibroinflammatory disorder of the thyroid gland, occuring more frequently in females, characterized a large, hard thyroid mass, and presenting with pressure symptoms (breathing difficulB,ties and dysphagia) or voice hoarseness and aphonia (impingement of recurrent laryngeal nerve). It can often be associated with extracervical fibroinflammatory disorders such as retroperitoneal fibrosis, primary scleroisng cholangitis and autoimmune diseases such as Hashimoto struma, Addison disease, and Biermer disease. tmpaxzxjjyw_mondo_relaxed.owl Riedel thyroiditis|Riedel fibrosing thyroiditis|Riedel disease|Riedel's fibrosing thyroiditis NCIT:C35827|UMLS:C1335787|ICD10:E06.5|DOID:14351|SCTID:89024000|MedDRA:10039142|Orphanet:64744 owl:Class MONDO:0005623 biolink:NamedThing autoimmune thyroid disease Inflammatory disease of the thyroid gland due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-cells and thyroid autoantibodies. The clinical signs can range from hypothyroidism to thyrotoxicosis depending on the type of autoimmune thyroiditis. tmpaxzxjjyw_mondo_relaxed.owl autoimmune thyroid gland inflammation|thyroiditides, lymphocytic|lymphocytic thyroiditis|thyroiditis, lymphomatous|thyroiditides, autoimmune|thyroiditides, lymphomatous|autoimmune thyroiditides|lymphomatous thyroiditides|autoimmune thyroiditis|thyroiditis, lymphocytic|lymphomatous thyroiditis|lymphocytic thyroiditides DOID:7188|MESH:D013967|GARD:0006945|Wikipedia:Autoimmune_thyroiditis|EFO:0006812 Disease of the thyroid gland due to autoimmunity in which the patient's immune system attacks and damages their thyroid. It can be either hyper- or hypothyroidism. (http://www.medicinenet.com/script/main/art.asp?articlekey=24314 - accessed 20th July, 2015) owl:Class GO:0042180 biolink:NamedThing cellular ketone metabolic process The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. tmpaxzxjjyw_mondo_relaxed.owl ketone metabolism owl:Class GO:0044281 biolink:NamedThing small molecule metabolic process The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. tmpaxzxjjyw_mondo_relaxed.owl small molecule metabolism owl:Class MONDO:0001474 biolink:NamedThing chronic salpingo-oophoritis Chronic form of salpingo-oophoritis. tmpaxzxjjyw_mondo_relaxed.owl chronic salpingitis/oophoritis|chronic salpingitis and oophoritis|chronic salpingo-oophoritis|salpingo-oophoritis, chronic SCTID:198142001|ICD9:614.1|UMLS:C0156328|ICD10:N70.1|DOID:12265|ICD10:N70.13 owl:Class MONDO:0003617 biolink:NamedThing chronic salpingitis Chronic inflammation of the fallopian tube. It usually follows an acute inflammatory attack. tmpaxzxjjyw_mondo_relaxed.owl salpingitis, chronic SCTID:55551005|ICD10:N70.11|NCIT:C40118|DOID:5731|UMLS:C0269041 owl:Class MONDO:0008974 biolink:NamedThing Greenberg dysplasia A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable. tmpaxzxjjyw_mondo_relaxed.owl Greenberg skeletal dysplasia|moth-eaten skeletal dysplasia|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|skeletal dysplasia, Greenberg type|chondrodystrophy, hydropic and prenatally lethal type|hem/Greenberg dysplasia|GRBGD|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops, ectopic calcification, moth-eaten skeletal dysplasia|hem|Greenberg dysplasia|autosomal recessive lethal chondrodystrophy with congenital hydrops|hem dysplasia DOID:0111588|GARD:0008754|ICD10:Q77.3|UMLS:CN199524|UMLS:C2931048|SCTID:389261002|MESH:C535858|OMIM:215140|Orphanet:1426 https://rarediseases.info.nih.gov/diseases/8754/greenberg-dysplasia owl:Class MONDO:0019240 biolink:NamedThing sterol biosynthesis disorder An acquired metabolic disease that is has its basis in the disruption of sterol biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl rare inborn error of sterol biosynthetic process|inborn sterol biosynthetic process disorder|inborn error of sterol biosynthetic process UMLS:CN227602|Orphanet:79195 owl:Class MONDO:0003935 biolink:NamedThing oncocytic breast carcinoma A rare breast adenocarcinoma characterized by the presence of neoplastic oncocytic cells. The oncocytic cells comprise more than 70 percent of the malignant cellular population. tmpaxzxjjyw_mondo_relaxed.owl oncocytic breast carcinoma UMLS:C1518574|NCIT:C40366|DOID:6585 owl:Class MONDO:0006256 biolink:NamedThing invasive breast carcinoma A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women. tmpaxzxjjyw_mondo_relaxed.owl infiltrating breast cancer|invasive mammary carcinoma|infiltrating breast carcinoma|infiltrating carcinoma of the breast|BRCA|invasive breast carcinoma|infiltrating carcinoma of breast|invasive carcinoma of the breast|invasive carcinoma of breast|invasive breast cancer NCIT:C9245|EFO:1000307|UMLS:C0853879|SCTID:713609000|ONCOTREE:BRCA owl:Class GO:0043392 biolink:NamedThing negative regulation of DNA binding Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). tmpaxzxjjyw_mondo_relaxed.owl down regulation of DNA binding|down-regulation of DNA binding|inhibition of DNA binding|downregulation of DNA binding owl:Class MONDO:0004237 biolink:NamedThing large cell carcinoma with rhabdoid phenotype A rare poorly differentiated morphologic variant of large cell lung carcinoma characterized by the presence of rhabdoid cells. tmpaxzxjjyw_mondo_relaxed.owl large cell carcinoma with rhabdoid phenotype (morphologic abnormality)|large cell lung carcinoma with rhabdoid phenotype|RLCLC DOID:7480|ONCOTREE:RLCLC|UMLS:C1265997|ICDO:8014/3|NCIT:C6876 owl:Class MONDO:0014670 biolink:NamedThing lethal congenital contracture syndrome 9 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene. tmpaxzxjjyw_mondo_relaxed.owl ADGRG6 lethal congenital contracture syndrome|lethal congenital contracture syndrome 9|lethal congenital contracture syndrome type 9|LCCS9|lethal congenital contracture syndrome caused by mutation in ADGRG6 UMLS:C4225303|OMIM:616503 owl:Class MONDO:0017436 biolink:NamedThing lethal congenital contracture syndrome A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. tmpaxzxjjyw_mondo_relaxed.owl LCCS GARD:0012643|DOID:0060558|UMLS:CN239241|Orphanet:294965|ICD10:Q68.8|OMIMPS:253310 owl:Class MONDO:0013096 biolink:NamedThing glioma susceptibility 7 tmpaxzxjjyw_mondo_relaxed.owl glioma susceptibility 7|GLM7 Orphanet:182067|OMIM:613032 owl:Class MONDO:0100242 biolink:NamedThing glioma susceptibility An inherited susceptibility or predisposition to developing glioma. tmpaxzxjjyw_mondo_relaxed.owl glioma, susceptibility|glioma, susceptibility to OMIM:137800|OMIM:607248|OMIM:613029|OMIM:613031|OMIM:613030|OMIM:613033|OMIMPS:137800|OMIM:613028|OMIM:613032 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0042961 biolink:NamedThing sacral hemangiomas multiple congenital abnormalities tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931443|MESH:C537222|GARD:0000317 owl:Class UBERON:0004454 biolink:NamedThing tarsal region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008784 biolink:NamedThing lower limb segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012417 biolink:NamedThing heart-hand syndrome, Slovenian type A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. tmpaxzxjjyw_mondo_relaxed.owl Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome|heart-hand syndrome, Slovenian type|atriodigital dysplasia, Slovenian type OMIM:610140|ICD10:Q87.2|GARD:0009846|SCTID:721014007|UMLS:C1857829|MESH:C535852|Orphanet:168796 https://rarediseases.info.nih.gov/diseases/9846/heart-hand-syndrome-slovenian-type owl:Class UBERON:0011814 biolink:NamedThing non-neurogenic ectodermal placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017064 biolink:NamedThing thoracolumbosacral spina bifida aperta tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202423|Orphanet:268384 owl:Class MONDO:0017062 biolink:NamedThing spina bifida aperta tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q05.2|ICD10:Q05.9|ICD10:Q05.6|SCTID:58557008|ICD10:Q05.5|UMLS:CN202421|ICD10:Q05.3|ICD10:Q05.1|ICD10:Q05.8|ICD10:Q05.7|Orphanet:268369|ICD10:Q05.4|ICD10:Q05.0 owl:Class MONDO:0004197 biolink:NamedThing male urethral cancer A cancer involving a male urethra. tmpaxzxjjyw_mondo_relaxed.owl malignant male urethra neoplasm|cancer of male urethra|Male urethral malignant neoplasm|male urethra cancer|malignant neoplasm of male urethra DOID:736|NCIT:C39867|UMLS:C1518164 owl:Class GO:0016628 biolink:NamedThing oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016627 biolink:NamedThing oxidoreductase activity, acting on the CH-CH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase activity, acting on the CH-CH group of donors, other acceptors owl:Class NCBITaxon:44417 biolink:NamedThing Cyclospora tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5799 biolink:NamedThing Eimeriidae tmpaxzxjjyw_mondo_relaxed.owl Eimeriids GC_ID:1 ncbi_taxonomy owl:Class CL:0000630 biolink:NamedThing supportive cell A cell whose primary function is to support other cell types. tmpaxzxjjyw_mondo_relaxed.owl BTO:0002315 cell owl:Class FOODON:03470107 biolink:NamedThing food preservation process The methods contributing to the prevention or retardation of microbial, enzymatic or oxidative spoilage and thus to the extension of shelf life. Index all methods for which information is available, even if a corresponding descriptor has already been used in *H. TREATMENT APPLIED*. Preservation descriptors refer to the finished food as a whole with these exceptions: (1) if the components of a multi-component food, such as cream pie, are preservation by different methods, index all methods; (2) if chemical preservatives are declared on the label, always index them even if it is known that the preservative was introduced through or is only present in a component or ingredient of the food; and (3) if the preservation method for an ingredient is declared on the label (such as brie cheese made from pasteurized milk) index it. Also use *INGREDIENT preservation by THERMAL PROCESSING* or *INGREDIENT preservation by IRRADIATION* when ingredients have been pasteurized, ultrapasteurized, sterilized or irradiated. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=J0107 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. owl:Class FOODON:00002451 biolink:NamedThing food transformation process A process involving the physical transformation of a food source or food product into some derived organic material or food product tmpaxzxjjyw_mondo_relaxed.owl requires discussion Damion Dooley owl:Class UBERON:0015061 biolink:NamedThing limb endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004455 biolink:NamedThing neurula embryo tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000468 biolink:NamedThing multicellular organism Anatomical structure that is an individual member of a species and consists of more than one cell. tmpaxzxjjyw_mondo_relaxed.owl multi-cellular organism|whole organism|organism|body|Koerper|whole body|animal owl:Class MONDO:0010638 biolink:NamedThing keratosis follicularis-dwarfism-cerebral atrophy syndrome Keratosis follicularis-dwarfism-cerebral atrophy syndrome is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present. tmpaxzxjjyw_mondo_relaxed.owl keratosis follicularis, dwarfism, and cerebral atrophy|dwarfism, cerebral atrophy and generalized keratosis follicularis|keratosis follicularis dwarfism and cerebral atrophy UMLS:C1839910|Orphanet:2339|OMIM:308830|GARD:0003099|ICD10:Q87.1|MESH:C536158 https://rarediseases.info.nih.gov/diseases/3099/keratosis-follicularis-dwarfism-and-cerebral-atrophy owl:Class MONDO:0033092 biolink:NamedThing ichthyosis, congenital, autosomal recessive 13 tmpaxzxjjyw_mondo_relaxed.owl ARCI13|autosomal recessive congenital ichthyosis 13|ichthyosis, congenital, autosomal recessive 13 OMIM:617574|UMLS:CN321864|DOID:0080257 owl:Class MONDO:0017265 biolink:NamedThing autosomal recessive congenital ichthyosis Autosomal recessive form of inherited ichthyosis. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive inherited ichthyosis|ichthyosis, congenital, autosomal recessive|inherited ichthyosis, autosomal recessive|ARCI OMIM:617320|OMIMPS:242300|DOID:0060655|Orphanet:281097 Editor note: ORDO, PMID:20643494, PMID:23562412 classifies as non-syndromic. A previous comment said syndromic forms exist but I couldn't find evidence of that in the literature (NV). owl:Class MONDO:0024746 biolink:NamedThing immature teratoma A teratoma composed of immature, fetal-type tissues. tmpaxzxjjyw_mondo_relaxed.owl malignant teratoma|teratoma, malignant|immature teratoma NCIT:C4286|ICDO:9080/3 owl:Class MONDO:0002601 biolink:NamedThing teratoma A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal-type tissues. Testicular teratomas in children follow a benign clinical course. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor. tmpaxzxjjyw_mondo_relaxed.owl teratoma MESH:D013724|NCIT:C3403|SCTID:36591000119102|ICDO:9080/1|DOID:3307|ONCOTREE:TT owl:Class MONDO:0012699 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2M A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4|MDDGC4|autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN|FKTN autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2M|limb-girdle muscular dystrophy type 2M|muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4|LGMD-FKTN related|LGMD2M DOID:0110296|GARD:0012538|MESH:C566912|OMIM:611588|ICD10:G71.0|UMLS:C1969040|Orphanet:206554 owl:Class MONDO:0017745 biolink:NamedThing disorder of O-mannosylglycan synthesis tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227192|Orphanet:309469|ICD10:E77.8 owl:Class MONDO:0003225 biolink:NamedThing bone marrow disorder Any disease of the bone marrow. tmpaxzxjjyw_mondo_relaxed.owl bone marrow disease or disorder|disorder of bone marrow|bone marrow disorder|disease of bone marrow|disease or disorder of bone marrow|bone marrow disease MESH:D001855|NCIT:C34433|ICD9:289.9|SCTID:127035006|DOID:4961|UMLS:C0005956 owl:Class MONDO:0016518 biolink:NamedThing isolated punctate palmoplantar keratoderma A punctate palmoplantar keratoderma that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl isolated punctate PPK|isolated punctate palmoplantar hyperkeratosis|nonsyndromic punctate palmoplantar keratoderma Orphanet:2338|ICD10:Q82.8 owl:Class MONDO:0017675 biolink:NamedThing punctate palmoplantar keratoderma A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. tmpaxzxjjyw_mondo_relaxed.owl punctate PPK|punctate palmoplantar hyperkeratosis|punctate keratosis palmoplantaris DOID:0060361|SCTID:402773000|UMLS:C4024851|ICD10:Q82.8|Orphanet:307967 owl:Class UBERON:0005277 biolink:NamedThing dorsal skin of toe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005275 biolink:NamedThing dorsal skin of digit tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020238 biolink:NamedThing inherited vitreous-retinal disease tmpaxzxjjyw_mondo_relaxed.owl genetic vitreoretinal disease|genetic vitreous-retinal disease UMLS:CN207063|Orphanet:98657 owl:Class FOODON:00001094 biolink:NamedThing fermented beverage tmpaxzxjjyw_mondo_relaxed.owl alcoholic beverage 2019-06-11 07:25:19+00:00 SUBSET_SIREN:F5644 SIREN DB annotation: * has quality 'liquid' (http://purl.obolibrary.org/obo/FOODON_03430130) * formed as a result of 'microbial/enzymatic modification process' (http://purl.obolibrary.org/obo/FOODON_03460119) * formed as a result of 'curing or aging process' (http://purl.obolibrary.org/obo/FOODON_03460253) http://langual.org subset_siren Damion Dooley owl:Class UBERON:0003258 biolink:NamedThing endoderm of foregut tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003089 biolink:NamedThing extrahepatic bile duct mucoepidermoid carcinoma A mucoepidermoid carcinoma that arises from the extrahepatic bile ducts. tmpaxzxjjyw_mondo_relaxed.owl mucoepidermoid carcinoma of bile duct|extrahepatic bile duct mucoepidermoid carcinoma|mucoepidermoid carcinoma of the bile duct|bile duct mucoepidermoid carcinoma NCIT:C5862|UMLS:C1332552|DOID:4681 owl:Class HP:0000998 biolink:NamedThing Hypertrichosis Hypertrichosis is increased hair growth that is abnormal in quantity or location. tmpaxzxjjyw_mondo_relaxed.owl Increased hair growth on body|Excessive hair growth SNOMEDCT_US:29966009|MSH:D006983|UMLS:C0020555|SNOMEDCT_US:271607001 human_phenotype owl:Class UBERON:0009565 biolink:NamedThing nail of manual digit tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2411 biolink:NamedThing CRYGD tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012651 biolink:NamedThing mucosa of gastroduodenal junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020134 biolink:NamedThing cystic malformation of the posterior fossa tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98520|SCTID:35111000119109|ICD9:742.4 owl:Class UBERON:0011864 biolink:NamedThing tendon collagen fibril tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011860 biolink:NamedThing collection of collagen fibrils tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017431 biolink:NamedThing non-syndromic limb overgrowth tmpaxzxjjyw_mondo_relaxed.owl limb overgrowth Orphanet:294953 owl:Class UBERON:0004760 biolink:NamedThing gland of anal canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003408 biolink:NamedThing gland of digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046137 biolink:NamedThing negative regulation of vitamin metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpaxzxjjyw_mondo_relaxed.owl inhibition of vitamin metabolic process|negative regulation of vitamin metabolism|downregulation of vitamin metabolic process|down regulation of vitamin metabolic process|down-regulation of vitamin metabolic process owl:Class MONDO:0003387 biolink:NamedThing urethra clear cell adenocarcinoma A morphologic variant of urethral adenocarcinoma characterized by the presence of tubulocystic or papillary structures lined with clear cuboidal or hobnail cells. tmpaxzxjjyw_mondo_relaxed.owl urethra clear cell adenocarcinoma|clear cell adenocarcinoma of the urethra|clear cell adenocarcinoma of urethra|urethral clear cell adenocarcinoma DOID:5307|NCIT:C6172|UMLS:C1336886 owl:Class MONDO:0005004 biolink:NamedThing clear cell adenocarcinoma A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid. tmpaxzxjjyw_mondo_relaxed.owl mesonephroma NOS (morphologic abnormality)|mesonephroma, malignant (morphologic abnormality)|adenocarcinoma, clear cell, malignant|clear cell adenocarcinoma (morphologic abnormality)|clear cell carcinoma|mesonephroma, malignant|water-clear cell carcinoma|mesonephroid clear cell adenocarcinoma|clear cell adenocarcinoma NOS (morphologic abnormality)|Wolffian duct neoplasm|mesonephroid clear cell carcinoma|water-clear cell adenocarcinoma (morphologic abnormality)|malignant Mesonephroma|water-clear cell adenocarcinoma|clear cell adenocarcinoma NCIT:C3766|DOID:4468|ICDO:8310/3|UMLS:C0206681|NCIT:C36815|MESH:D018262|NCIT:C4072|EFO:0000348 owl:Class MONDO:0008265 biolink:NamedThing polycystic liver disease 1 A polycystic liver disease in which the cause of the disease is a mutation in the PRKCSH gene, and is characterized by the appearance of numerous cysts spread throughout the liver. tmpaxzxjjyw_mondo_relaxed.owl PCLD|isolated autosomal dominant polycystic liver disease|isolated congenital polycystic liver disease|polycystic liver disease 1|polycystic liver disease|polycystic liver disease 1 with or without kidney cysts|nonsyndromic congenital polycystic liver disease|isolated polycystic liver disease|nonsyndromic polycystic liver disease (disease)|ADPCLD|autosomal dominant polycystic liver disease|PCLD1 MedDRA:10048834|UMLS:C0158683|SCTID:716196007|ICD10:Q44.6|UMLS:C4255088|OMIM:174050|Orphanet:2924|MedDRA:10010427|OMIM:617004 owl:Class MONDO:0015509 biolink:NamedThing genetic biliary tract disease Genetic biliary tract disease. tmpaxzxjjyw_mondo_relaxed.owl genetic biliary tract disease UMLS:CN199642|Orphanet:156607 owl:Class MONDO:0009053 biolink:NamedThing ALDH18A1-related de Barsy syndrome ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity. tmpaxzxjjyw_mondo_relaxed.owl cutis laxa, corneal clouding, and mental retardation|De Barsy syndrome a|cutis laxa, corneal clouding, and intellectual disability|Delta-1-pyrroline 5-carboxylate synthetase deficiency|cutis laxa, autosomal recessive, type 3A|P5CS deficiency|autosomal recessive cutis laxa type IIIA|cutis laxa, autosomal recessive, type IIIA|progeroid syndrome of De Barsy|ARCL3A|neurocutaneous syndrome, Bicknell type|De Barsy syndrome A Orphanet:35664|ICD10:Q87.8|Orphanet:2962|SCTID:59252009|OMIM:219150|ICD9:371.89|DOID:0070132|ICD10:Q82.8 owl:Class MONDO:0017569 biolink:NamedThing de Barsy syndrome A rare autosomal recessive genetic disorder characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. tmpaxzxjjyw_mondo_relaxed.owl cutis laxa-corneal clouding-intellectual disability syndrome|progeroid syndrome of de Barsy|progeroid syndrome, de Barsy type|progeroid syndrome, De Barsy type|autosomal recessive cutis laxa type III|cutis laxa growth deficiency syndrome|De Barsy syndrome|corneal clouding, cutis laxa and intellectual disability|corneal clouding, cutis laxa and mental retardation GARD:49|OMIM:614438|GARD:0000049|OMIM:219150|SCTID:238826008|DOID:0070143|ICD10:Q87.8|MESH:C535990|PMID:18388779|Orphanet:2962|SCTID:59252009 owl:Class MONDO:0021670 biolink:NamedThing post-infectious syndrome tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8654 biolink:NamedThing PCCB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060486 biolink:NamedThing arthrogryposis multiplex congenita 1, neurogenic, with myelin defect tmpaxzxjjyw_mondo_relaxed.owl AMCNMY|arthrogryposis multiplex congenita, neurogenic, with myelin defect OMIM:617468 owl:Class MONDO:0010526 biolink:NamedThing Fabry disease Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations. tmpaxzxjjyw_mondo_relaxed.owl alpha galactosidase deficiency|Fabry disease|angiokeratoma corporis diffusum|Anderson-Fabry disease|Fabry's disease|angiokeratoma, diffuse|Alpha-galactosidase A deficiency|Fabry disease, Cardiac variant|Fd|diffuse angiokeratoma|ceramide trihexosidase deficiency|deficiency of melibiase|hereditary dystopic lipidosis|Gla deficiency OMIM:301500|DOID:14499|ICD10:E75.2|SCTID:16652001|ICD10:E75.21|UMLS:C0002986|NCIT:C27528|MESH:D000795|Orphanet:324|GARD:0006400|MedDRA:10016016|NCIT:C84701 owl:Class CL:0000175 biolink:NamedThing luteal cell A progesterone secreting cell in the corpus luteum. The large luteal cells develop from the granulosa cells. The small luteal cells develop from the theca cells. tmpaxzxjjyw_mondo_relaxed.owl lutein cell BTO:0003939|FMA:18688 cell owl:Class MONDO:0017582 biolink:NamedThing pituitary adenocarcinoma A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly. tmpaxzxjjyw_mondo_relaxed.owl cancer of the pituitary|pituitary carcinoma|cancer of the pituitary gland|carcinoma of pituitary gland|carcinoma of pituitary|cancer of pituitary gland|carcinoma of the pituitary gland|PTCA|pituitary adenocarcinoma (disease)|carcinoma of the pituitary|pituitary gland carcinoma|pituitary gland adenocarcinoma|cancer of pituitary|pituitary gland cancer pituitary adenocarcinoma (disease) NCIT:C4536|Orphanet:300385|DOID:4916|ONCOTREE:PTCA|HP:0011763|ICDO:8272/3|UMLS:C0346300|ICD10:C75.1|SCTID:254955001 owl:Class MONDO:0002109 biolink:NamedThing pituitary cancer A primary or metastatic malignant neoplasm affecting the pituitary gland. Representative examples include functioning or non-functioning carcinomas arising from the anterior lobe of the pituitary gland, chordomas, chondrosarcomas, and metastatic carcinomas from the breast, lung, and gastrointestinal tract. tmpaxzxjjyw_mondo_relaxed.owl pituitary tumor, malignant|pituitary neoplasm|malignant neoplasm of the pituitary gland|malignant neoplasm of pituitary gland|malignant pituitary neoplasm|pituitary gland neoplasm|malignant tumor of the pituitary|malignant pituitary tumor|pituitary gland cancer|malignant pituitary gland neoplasm|malignant tumor of the pituitary gland|malignant neoplasm of pituitary|malignant pituitary gland tumor|pituitary cancer|malignant tumor of pituitary|cancer of pituitary gland|malignant neoplasm of the pituitary|pituitary neoplasms, malignant|malignant tumor of pituitary gland NCIT:C3330|GARD:0009371|DOID:1785|EFO:0005578|SCTID:363482009|ICD10:C75.1|NCIT:C4769|SCTID:127024001|UMLS:C0496842|UMLS:C0032019 owl:Class GO:0140029 biolink:NamedThing exocytic process The cellular processes that contribute to exocytosis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004180 biolink:NamedThing mammary gland fat tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003584 biolink:NamedThing mammary gland connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4115 biolink:NamedThing GALC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004881 biolink:NamedThing myositis fibrosa A form of myositis that is characterized by the formation of connective tissue within the muscle. tmpaxzxjjyw_mondo_relaxed.owl interstitial myositis NCIT:C26985|UMLS:C0158362|ICD9:728.81|SCTID:55925001|ICD10:M60.1|DOID:9788 owl:Class MONDO:0018541 biolink:NamedThing familial hypoaldosteronism Aldosterone synthase deficiency is a rare inherited defect of the final step of aldosterone biosynthesis (conversion of deoxycorticosterone to aldosterone). tmpaxzxjjyw_mondo_relaxed.owl OMIM:610600|Orphanet:427|ICD10:E27.4|UMLS:CN205074|OMIM:203400|UMLS:C4275180|SCTID:715343000|OMIM:606984 owl:Class MONDO:0015900 biolink:NamedThing hypoaldosteronism disease tmpaxzxjjyw_mondo_relaxed.owl rare hypoaldosteronism|hypoaldosteronism MESH:D006994|ICD10:E27.4|Orphanet:181419|GARD:0002874|UMLS:C0020595|SCTID:60086000 Editor note: we place the GARD class here as it is implicitly rare owl:Class MONDO:0016158 biolink:NamedThing narcolepsy-cataplexy syndrome Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions). tmpaxzxjjyw_mondo_relaxed.owl Gélineau disease|narcolepsy-cataplexy syndrome|Gelineau syndrome|Gelineau's syndrome|paroxysmal sleep|narcoleptic syndrome|narcolepsy with cataplexy|GC)lineau disease ICD10:G47.4|NCIT:C84489|ICD9:347.0|OMIM:161400|MESH:D009290|OMIM:614223|EFO:0000614|OMIM:612417|MedDRA:10028713|OMIM:605841|GARD:0007162|ICD10:G47.41|SCTID:60380001|OMIM:612851|Orphanet:2073|OMIM:609039|ICD10:G47.419|OMIM:614250|DOID:8986 https://rarediseases.info.nih.gov/diseases/7162/narcolepsy owl:Class MONDO:0019823 biolink:NamedThing premature closure of the arterial duct Premature closure of the arterial duct is a rare arterial duct anomaly, defined as a significant constriction or closure of the fetal arterial duct in the absence of structural heart defects with pathognomonic features of increased right ventricular afterload, tricuspid regurgitation and, consequently, right atrial dilation and right ventricular hypertrophy. The severity of symptoms is related to the degree and rate of ductal constriction and ranges from mild postnatal respiratory distress to development of ventricular failure with fetal hydrops and intrauterine death or severe cardiopulmonary compromise in the postnatal period. It may be associated with a prenatal exposure to cyclooxygenase inhibitors or corticosteroids. tmpaxzxjjyw_mondo_relaxed.owl premature closure of the patent ductus arteriosus ICD10:Q25.8|Orphanet:95486 owl:Class MONDO:0019594 biolink:NamedThing 46,XY disorder of sex development due to a testosterone synthesis defect tmpaxzxjjyw_mondo_relaxed.owl 46,XY DSD due to a testosterone synthesis defect 2022-03-01 UMLS:CN227656|Orphanet:90783 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class MONDO:0017970 biolink:NamedThing 46,XY disorder of sex development due to impaired androgen production tmpaxzxjjyw_mondo_relaxed.owl 46,XY DSD due to impaired androgen production 2022-03-01 Orphanet:325357|UMLS:CN227233 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class UBERON:0018120 biolink:NamedThing right renal medulla interstitium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005211 biolink:NamedThing renal medulla interstitium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013524 biolink:NamedThing bleeding diathesis due to thromboxane synthesis deficiency tmpaxzxjjyw_mondo_relaxed.owl bleeding disorder, platelet-type, 13, susceptibility to|bleeding disorder, susceptibility to, due to defective platelet thromboxane A2 receptor|BDPLT13|susceptibility to platelet-type bleeding disorder 13 Orphanet:220443|ICD10:D69.8|OMIM:614009 owl:Class MONDO:0018796 biolink:NamedThing isolated constitutional thrombocytopenia tmpaxzxjjyw_mondo_relaxed.owl Cconstitutional thrombocytopenia without extra-hematopoietic manifestation|non-syndromic constitutional thrombocytopenia Orphanet:477797 owl:Class PO:0025477 biolink:NamedThing floral organ primordium A primordium (PO:0025127) that is committed to the development of a floral organ (PO:0025395) and is part of a reproductive shoot apex (PO:0025222). tmpaxzxjjyw_mondo_relaxed.owl 花器官原基 (Japanese, exact)|primordio de organo floral (Spanish, exact)|portion of floral structure primordium tissue (exact)|floral structure primordia (exact, plural) PO_GIT:465 If annotating to a primordium of a floral structure, it is better to use the more specific term, such as petal primordium (PO:0000021) or anther primordium (PO:0006089). rwalls 2012-04-26T03:57:09Z plant_anatomy owl:Class PO:0025127 biolink:NamedThing primordium A portion of meristem tissue (PO:0009013) that has as parts protoderm (PO:0006210) and sub-epidermal meristematic tissue and is committed to the development of a particular plant structure (PO:0009011). tmpaxzxjjyw_mondo_relaxed.owl 原基（可視的） (Japanese, exact)|portion of primordial tissue (exact)|primordia (exact, plural)|portion of primordium tissue (exact)|primordio (Spanish, exact) PO_GIT:186 A primordium appears as a protrusion and is the first distinct form of a plant organ (PO:0009008), cardinal organ part (PO:0025001), or collective plant organ structure (PO:0025007). The transition from a primordium to the plant structure it develops into is marked by the development of non-meristematic cells, although meristematic cells may be present after the transition. rwalls 2010-11-15T09:10:22Z plant_anatomy owl:Class UBERON:0006214 biolink:NamedThing carpus pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005866 biolink:NamedThing pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005246 biolink:NamedThing osteomyelitis An acute or chronic inflammation of the bone and its structures due to infection with pyogenic bacteria. tmpaxzxjjyw_mondo_relaxed.owl osteomyelitis|osteomyelitis (disease) osteomyelitis (disease) SCTID:60168000|ICD9:730.0|ICD9:730.97|ICD9:730.94|ICD9:730.92|MESH:D010019|ICD9:730.01|ICD9:730.20|EFO:0003102|DOID:1019|UMLS:C0029443|ICD9:730.96|ICD9:730.28|NCIT:C27577|ICD9:730.11|GARD:0007286|ICD9:730.93|ICD9:730.1|ICD9:730.10|HP:0002754 owl:Class HP:0010766 biolink:NamedThing Ectopic calcification Deposition of calcium salts in a tissue or location in which calcification does not normally occur. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3806226 doelkens 2010-04-27T09:52:59Z human_phenotype owl:Class HP:0000924 biolink:NamedThing Abnormality of the skeletal system An abnormality of the skeletal system. tmpaxzxjjyw_mondo_relaxed.owl Skeletal anomalies|Abnormality of the skeletal system|Skeletal abnormalities UMLS:C4021790 human_phenotype owl:Class HGNC:11270 biolink:NamedThing SPRY2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013640 biolink:NamedThing familial retinal arterial macroaneurysm tmpaxzxjjyw_mondo_relaxed.owl retinal arterial macroaneurysm with supravalvular pulmonic stenosis|retinal arterial macroaneurysm and supravalvular pulmonic stenosis|RAMSVPS|Fram UMLS:C3280205|Orphanet:284247|OMIM:614224|SCTID:764452004|GARD:0012779 owl:Class MONDO:0014644 biolink:NamedThing hereditary spastic paraplegia 74 Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported. tmpaxzxjjyw_mondo_relaxed.owl SPG74|autosomal recessive spastic paraplegia 74|IBA57 hereditary spastic paraplegia|autosomal recessive spastic paraplegia type 74|hereditary spastic paraplegia type 74|spastic paraplegia 74, autosomal recessive|hereditary spastic paraplegia caused by mutation in IBA57 DOID:0110819|OMIM:616451|Orphanet:468661|UMLS:C4225322 owl:Class UBERON:0004448 biolink:NamedThing distal epiphysis of phalanx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044637 biolink:NamedThing infantile-onset generalized dyskinesia with orofacial involvement tmpaxzxjjyw_mondo_relaxed.owl infantile-onset orofacial-trunk-limbs dyskinesia Orphanet:494526 owl:Class MONDO:0015990 biolink:NamedThing focal, segmental or multifocal dystonia A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G24.8|ICD10:G24.3|Orphanet:1866|ICD10:G24.4|ICD10:G24.5 owl:Class MONDO:0008978 biolink:NamedThing chordoma Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton. tmpaxzxjjyw_mondo_relaxed.owl chordoma (disease)|chordoma, malignant|chordoma|susceptibility to chordoma|notochordoma|notochordal sarcoma|CHDM|chordoma, susceptibility to chordoma (disease) OMIM:215400|ICDO:9370/3|ICD10:C76.7|DOID:3302|NCIT:C2947|HP:0010762|GARD:0001303|UMLS:C0008487|Orphanet:178|ONCOTREE:CHDM|MedDRA:10008747|MESH:D002817 owl:Class MONDO:0002597 biolink:NamedThing notochordal tumor A bone tumor arising from the remnants of the fetal notochord. This category includes the chordoma and benign notochordal cell tumor. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of notochord|notochordal neoplasm|notochord cancer|notochord neoplasm|malignant notochord neoplasm|cancer of notochord|notochord tumor|malignant neoplasm of notochord|notochordal cancer|tumor of notochord|notochordal tumor UMLS:C1335069|DOID:3303|NCIT:C7063 owl:Class MONDO:0002233 biolink:NamedThing enamel caries A dental caries that involves the enamel. tmpaxzxjjyw_mondo_relaxed.owl dental caries of enamel|dental caries limited to enamel|simple dental cavity|primary dental caries|enamel dental caries UMLS:C0266853|ICD9:521.01|DOID:217|SCTID:80353004 owl:Class HGNC:17494 biolink:NamedThing GJC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008846 biolink:NamedThing atransferrinemia Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated. tmpaxzxjjyw_mondo_relaxed.owl hereditary atransferrinemia|transferrin serum level quantitative trait locus 1|atransferrinemia|congenital atransferrinemia|familial hypotransferrinemia|congenital hypotransferrinemia|hypotransferrinemia, familial MESH:C538259|ICD10:E88.0|NCIT:C125693|UMLS:C0521802|SCTID:111571009|DOID:0050649|GARD:0009595|OMIM:209300|Orphanet:1195 https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia owl:Class MONDO:0020098 biolink:NamedThing constitutional anemia due to iron metabolism disorder tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 ICD10:D50.8|UMLS:CN227778|Orphanet:98360 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited deficiency anemia' MONDO_0016624 owl:Class MONDO:0012537 biolink:NamedThing split-hand/foot malformation with long bone deficiency 2 tmpaxzxjjyw_mondo_relaxed.owl SHFLD2|split-hand/foot malformation with long bone deficiency 2 MESH:C565199|UMLS:C1853156|OMIM:610685|Orphanet:3329 owl:Class MONDO:0001803 biolink:NamedThing myringitis bullosa hemorrhagica A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. tmpaxzxjjyw_mondo_relaxed.owl bullous myringitis UMLS:C0155461|DOID:13791|ICD10:H73.01|SCTID:33528003|ICD9:384.01 owl:Class MONDO:0003648 biolink:NamedThing tympanic membrane disorder A disease involving the tympanic membrane. tmpaxzxjjyw_mondo_relaxed.owl disorder of tympanic membrane|disease of tympanic membrane|tympanic membrane disease|tympanic membrane disease or disorder|disease or disorder of tympanic membrane UMLS:C0041825|ICD10:H73.90|DOID:5782|ICD10:H73.9|SCTID:21426000|ICD9:384.9 owl:Class MONDO:0009292 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases. tmpaxzxjjyw_mondo_relaxed.owl GSD type IV|amylopectinosis|GBE1 glycogen storage disease|GSD 4|GSD IV, nonprogressive hepatic|Andersen's disease|glycogenosis due to glycogen branching enzyme deficiency|GSD4|Gbe1 deficiency|GSD IV, neuromuscular form, adult, with isolated myopathy|glycogen storage disease 4|brancher deficiency glycogenosis|glycogenosis type 4|GSD IV, neuromuscular form, childhood|GSD type 4|GSD IV, classic hepatic|Andersen disease|glycogen storage disease type IV|glycogen storage disease type 4|branching-transferase deficiency glycogenosis|GSD IV, neuromuscular form, congenital|glycogenosis 4|glycogenosis type IV|brancher deficiency|GSD due to glycogen branching enzyme deficiency|glycogen storage disease IV|GSD IV, neuromuscular form, fatal perinatal|glycogen storage disease due to glycogen branching enzyme deficiency|GSD IV|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|deficiency of 1,4-alpha-glucan branching enzyme|glycogen storage disease, type IV|glycogen storage disease caused by mutation in GBE1 DOID:2750|MedDRA:10053249|UMLS:C1856305|OMIM:232500|ICD10:E74.09|ICD10:E74.0|NCIT:C84737|UMLS:C1856304|GARD:0002520|ICD9:277.6|OMIM:263570|UMLS:CN204783|Orphanet:367|SCTID:124267007|UMLS:C0017923|UMLS:C1856303 owl:Class CL:1001599 biolink:NamedThing pancreas exocrine glandular cell Glandular cell of exocrine pancreas epithelium. Example: pancreatic acinar cell, glandular cells in pancreatic canaliculi, glandular cells in pancreatic ducts. tmpaxzxjjyw_mondo_relaxed.owl exocrine pancreas glandular cell|pancreas exocrine glandular cells BTO:0000028|CALOHA:TS-1242 owl:Class MONDO:0001247 biolink:NamedThing social phobia An anxiety disorder characterized by an intense, irrational fear of one or more social or performance situations in which the individual believes that he or she will be scrutinized by others. Exposure to social situations immediately provokes an anxiety response. In adults, the social phobia is recognized as excessive or unreasonable. tmpaxzxjjyw_mondo_relaxed.owl social anxiety disorder MESH:D010698|ICD10:F40.10|EFO:1001917|ICD10:F40.1|NCIT:C34927|SCTID:25501002|DOID:11257|ICD9:300.23 owl:Class MONDO:0003699 biolink:NamedThing phobic disorder An anxiety disorder characterized by an intense, irrational fear of an object, activity, or situation. The individual seeks to avoid the object, activity, or situation. In adults, the individual recognizes that the fear is excessive or unreasonable. tmpaxzxjjyw_mondo_relaxed.owl phobia ICD10:F40|SCTID:386810004|ICD9:300.20|DOID:591|ICD9:300.2|MESH:D010698|ICD10:F40.9|NCIT:C35420|EFO:1001908 owl:Class MONDO:0005167 biolink:NamedThing fibroma A non-metastasizing neoplasm arising from the fibrous tissue. It is characterized by the presence of spindle-shaped fibroblasts. tmpaxzxjjyw_mondo_relaxed.owl fibroma, benign|fibroma EFO:0002424|DOID:0050871|ICD9:215.9|NCIT:C3041|SCTID:424568000|ICDO:8810/0|MESH:D005350 owl:Class HGNC:11762 biolink:NamedThing TFR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2389 biolink:NamedThing CRYAB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018952 biolink:NamedThing argyria Argyria is a rare dermatosis, which can be either localized or systemic, that occurs after prolonged contact and absorption of silver containing compounds over a period of years and that is characterized by irreversible blue-gray to gray-black staining of skin, fingernails and/or mucous membranes, most evident on sun exposed areas of the skin. Silver exposure is usually occupational but may also occur through dental amalgams, the ingestion of colloidal silver, acupuncture needles, orthopedic implants and topical medications (such as silver sulfadiazine). tmpaxzxjjyw_mondo_relaxed.owl Silver staining MedDRA:10003094|Orphanet:60014|ICD10:T56.8|MESH:D001129 owl:Class GO:0048592 biolink:NamedThing eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0090596 biolink:NamedThing sensory organ morphogenesis Morphogenesis of a sensory organ. A sensory organ is defined as a tissue or set of tissues that work together to receive and transmit signals from external or internal stimuli. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000241 biolink:NamedThing Keshan disease A congestive cardiomyopathy caused by a combination of dietary deficiency of selenium and the presence of a mutated strain of Coxsackievirus. tmpaxzxjjyw_mondo_relaxed.owl enlarged heart and poor heart function|congestive cardiomyopathy due to selenium deficiency|coxsackievirus infectious disease MESH:C536166|ICD9:269.3|EFO:0007226|SCTID:46939000|UMLS:C0010246|UMLS:C0268095|MESH:D003384|GARD:0008761|DOID:0050083 https://rarediseases.info.nih.gov/diseases/8761/keshan-disease owl:Class MONDO:0019712 biolink:NamedThing patellar dysostosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93455 owl:Class MONDO:0007864 biolink:NamedThing angioosteohypertrophic syndrome Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb. tmpaxzxjjyw_mondo_relaxed.owl KTS|Weber-Klippel-Trenaunay|Klippel-Trenaunay syndrome|angioosteohypertrophy syndrome|Ktw syndrome|haemangiectatic hypertrophy|Klippel-Trénaunay syndrome|Klippel-Trénaunay-Weber syndrome|angio-osteohypertrophy syndrome|Klippel-Trenaunay-Weber syndrome|Klippel Trenaunay syndrome Orphanet:90308|UMLS:CN201567|MESH:D007715|NCIT:C84801|GARD:0003122|DOID:2926|Orphanet:2346|SCTID:721105004|MedDRA:10051452|OMIM:149000|ICD10:Q87.2|EFO:0007334|OMIM:608355|UMLS:C0022739 https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome owl:Class MONDO:0004958 biolink:NamedThing oral cavity squamous cell carcinoma A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status. tmpaxzxjjyw_mondo_relaxed.owl scc of oral cavity|scc of mouth|squamous cell carcinoma of oral cavity|oral cavity squamous cell cancer|squamous cell carcinoma of the mouth|mouth squamous cell carcinoma|oral cavity scc|scc of the mouth|scc of the oral cavity|squamous cell carcinoma of mouth|mouth scc|squamous cell carcinoma of the oral cavity|oral cavity squamous cell carcinoma|oral squamous cell carcinoma|OCSC Orphanet:502363|OMIM:275355|DOID:0050866|NCIT:C4833|EFO:0000199|UMLS:C0585362|GARD:0007263|SCTID:307502000|ONCOTREE:OCSC https://rarediseases.info.nih.gov/diseases/7263/oral-squamous-cell-carcinoma owl:Class MONDO:0044710 biolink:NamedThing lip and oral cavity squamous cell carcinoma A squamous cell carcinoma arising from the lip or the oral cavity. The oral cavity squamous cell carcinoma usually arises from the buccal mucosa, tongue, or gums. It occurs predominantly in adults who use tobacco and alcohol and has a tendency to metastasize early to lymph nodes. tmpaxzxjjyw_mondo_relaxed.owl lip and oral cavity squamous cell cancer|squamous cell carcinoma of oral cavity and lip|lip and oral cavity squamous cell carcinoma|lip/oral cavity squam. cell car. Orphanet:502369|UMLS:C0280297|NCIT:C42690 owl:Class GO:0120035 biolink:NamedThing regulation of plasma membrane bounded cell projection organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of plasma membrane bounded cell projections. tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr22 biolink:NamedThing chromosome 22 (Human) tmpaxzxjjyw_mondo_relaxed.owl 22 50818468 0 hg38 owl:Class UBERON:0018255 biolink:NamedThing jejunal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015564 biolink:NamedThing Castleman disease Castleman disease (CD) is a benign lymphoproliferative disorder that may present as a localized or multicentric form. The clinical manifestations are heterogeneous, ranging from asymptomatic discrete lymphadenopathy to recurrent episodes of diffuse lymphadenopathy with severe systemic symptoms. tmpaxzxjjyw_mondo_relaxed.owl angiofollicular ganglionic hyperplasia|Castleman's disease|GLNH|giant lymph node hyperplasia|angiofollicular lymph node hyperplasia|ALNH|Castleman's tumor|AFLH|lymphoid hamartoma|angiofollicular lymphoid hyperplasia|angiofollicular lymph hyperplasia|Castleman disease UMLS:C2931179|GARD:0012656|ICD10:D47.4|MedDRA:10050251|SCTID:207036003|GARD:0000673|NCIT:C3056|OMIM:148000|EFO:1001332|ICD10:D47.Z2|UMLS:C0017531|UMLS:CN199886|DOID:0111157|Orphanet:160 owl:Class MONDO:0015157 biolink:NamedThing human herpesvirus 8-related tumor tmpaxzxjjyw_mondo_relaxed.owl HHV-8-related disorder Orphanet:102024|UMLS:CN226610 Editor note: TODO check this owl:Class MONDO:0005545 biolink:NamedThing staphylococcus aureus infection An infectious process in which the bacteria Staphylococcus aureus is present. tmpaxzxjjyw_mondo_relaxed.owl EFO:0005681|NCIT:C122576|NCIT:C35038|SCTID:406602003 owl:Class MONDO:0000009 biolink:NamedThing inherited bleeding disorder, platelet-type tmpaxzxjjyw_mondo_relaxed.owl bleeding disorder, platelet-type|platelet disorder|blood platelet disease|thrombocytopathy SCTID:22716005|UMLS:C0005818|DOID:2218|MESH:D001791|OMIMPS:231200 owl:Class MONDO:0021389 biolink:NamedThing neoplasm of aortic body A benign or malignant extra-adrenal parasympathetic paraganglioma that arises from paraganglia adjacent to the base of the heart and great vessels. tmpaxzxjjyw_mondo_relaxed.owl tumor of the aortic body|aortic body paraganglioma|tumor of aortic body|paraganglioma of the aortic body|aorticopulmonary paraganglioma|aortic body neoplasm (disease)|aortic body tumor|neoplasm of aortic body|neoplasm of the aortic body|aortic body neoplasm|paraganglioma of aortic body SCTID:127029006|ICD9:239.7|NCIT:C4218|UMLS:C0334417|ICDO:8691/1 owl:Class MONDO:0017249 biolink:NamedThing congenital pulmonary airway malformation type 1 tmpaxzxjjyw_mondo_relaxed.owl congenital cystic disease of the lung type 1|congenital cystic adenomatoid malformation of the lung type 1|CPAM type 1|congenital cystic adenomatous malformation of the lung type 1|CCAM type 1 ICD10:Q33.0|Orphanet:280832 owl:Class MONDO:0016580 biolink:NamedThing congenital pulmonary airway malformation An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal bronchioles with a consequent reduction of pulmonary alveoli. This anomaly is classified into three types by the cyst size. tmpaxzxjjyw_mondo_relaxed.owl congenital cystic adenomatoid malformation of lung|congenital cystic disease of the lung|CPAM|CCAM|congenital cystic adenomatous malformation of the lung|congenital cystic adenomatoid malformation|congenital cystic adenomatoid malformation of the lung|cystic adenomatoid malformation of lung NCIT:C98892|ICD10:Q33.0|Orphanet:2444|GARD:0006232|SCTID:111318005|MESH:D015615 owl:Class MONDO:0014452 biolink:NamedThing familial dysfibrinogenemia Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen. tmpaxzxjjyw_mondo_relaxed.owl congenital dysfibrinogenemia|dysfibrinogenemia, familial|dysfibrinogenemia, congenital|dysfibrinogenemia|familial dysfibrinogenemia|hypodysfibrinogenemia, congenital ICD9:286.3|Orphanet:335|Orphanet:98881|OMIM:616004|NCIT:C131659|SCTID:111589005|UMLS:C1260903|GARD:0002004|UMLS:CN207171|Orphanet:248408|ICD10:D68.2 https://rarediseases.info.nih.gov/diseases/2004/dysfibrinogenemia owl:Class MONDO:0018060 biolink:NamedThing congenital fibrinogen deficiency Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia). tmpaxzxjjyw_mondo_relaxed.owl fibrinogen deficiency, congenital|congenital fibrinogen deficiency ICD10:D68.2|GARD:0002320|OMIM:616004|Orphanet:335|OMIM:202400 https://rarediseases.info.nih.gov/diseases/2320/fibrinogen-deficiency-congenital owl:Class MONDO:0010355 biolink:NamedThing syndromic X-linked intellectual disability Claes-Jensen type tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, syndromic, Claes-Jensen type|intellectual disability, X-linked, syndromic, JARID1C-related|MRXSJ|MRXSCJ|syndromic X-linked mental retardation JARID1C-related|syndromic X-linked intellectual disability Claes-Jensen type|syndromic X-linked intellectual disability due to JARID1C mutation|syndromic X-linked intellectual disability JARID1C-related|intellectual disability, X-linked, syndromic, Claes-Jensen type|mental retardation, X-linked, syndromic, JARID1C-related Orphanet:85279|MESH:C564494|SCTID:719161008|ICD10:Q87.8|UMLS:C4304915|DOID:0060809|UMLS:C1845243|OMIM:300534 owl:Class GO:2000383 biolink:NamedThing regulation of ectoderm development Any process that modulates the frequency, rate or extent of ectoderm development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009527 biolink:NamedThing lipase deficiency, combined A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders. tmpaxzxjjyw_mondo_relaxed.owl LPL and HTGL deficiency|lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency|combined lipase deficiency|LPL and HL deficiency|lipase deficiency combined|lipase deficiency, combined NCIT:C126558|OMIM:246650|UMLS:C1855498|GARD:0010244|DOID:0111422|Orphanet:535453|MESH:C535904 https://rarediseases.info.nih.gov/diseases/10244/lipase-deficiency-combined owl:Class MONDO:0005585 biolink:NamedThing chemotherapy-induced hypertension A form of hypertension that occurs as a direct result of chemotherapy treatment tmpaxzxjjyw_mondo_relaxed.owl EFO:0005942 owl:Class MONDO:0005044 biolink:NamedThing hypertensive disorder Persistently high systemic arterial blood pressure. Based on multiple readings (blood pressure determination), hypertension is currently defined as when systolic pressure is consistently greater than 140 mm Hg or when diastolic pressure is consistently 90 mm Hg or more. tmpaxzxjjyw_mondo_relaxed.owl increased blood pressure|pressure, high blood|hyperpiesia|high blood pressure|blood pressure, increased|hypertensive disease|HTN|hypertension|vascular hypertensive disorder|blood pressure, high ICD10:I10|NCIT:C3117|MESH:D006973|ICD10:I10-I15|SCTID:38341003|ICD10:I15|EFO:0000537|OMIM:145500|UMLS:C0020538|ICD9:997.91|ICD9:401-405.99|DOID:10763|HP:0000822 owl:Class NCBITaxon:1980491 biolink:NamedThing Sin Nombre orthohantavirus tmpaxzxjjyw_mondo_relaxed.owl Sin Nombre hantavirus|Sin Nombre virus GC_ID:1 NCBITaxon:37705 ncbi_taxonomy owl:Class NCBITaxon:1980442 biolink:NamedThing Orthohantavirus tmpaxzxjjyw_mondo_relaxed.owl Hantavirus GC_ID:1 NCBITaxon:11598 ncbi_taxonomy owl:Class MONDO:0005895 biolink:NamedThing paragonimiasis A parasitic infection caused by trematodes of the Paragonimus genus. Humans are infected from ingestion of raw or undercooked food. It results in chronic lung infection and eosinophilia. tmpaxzxjjyw_mondo_relaxed.owl Paragonimus westermani infectious disease|Paragonimus westermani infection|infection by Paragonimus|lung fluke infection|pulmonary paragonimiasis|lung fluke disease|Paragonimus westermani caused disease or disorder|Paragonimus westermani disease or disorder NCIT:C84995|ICD10:B66.4|SCTID:30369007|DOID:10699|GARD:0009815|ICD9:121.2|MESH:D010237|EFO:0007418|UMLS:C0030424 https://rarediseases.info.nih.gov/diseases/9815/paragonimiasis owl:Class MONDO:0009564 biolink:NamedThing Marden-Walker syndrome Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly. tmpaxzxjjyw_mondo_relaxed.owl Marden-Walker syndrome|MWKS|MARDEN-WALKER syndrome|connective tissue disorder Marden Walker type|Mws SCTID:449824004|MESH:C535910|Orphanet:2461|OMIM:248700|ICD10:Q87.0|GARD:0006973|ICD9:759.89 owl:Class HGNC:11763 biolink:NamedThing TFRC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001873 biolink:NamedThing geniculate ganglionitis Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation. tmpaxzxjjyw_mondo_relaxed.owl inflammation of geniculate ganglion|geniculate ganglion inflammation|geniculate ganglionitis ICD10:G51.1|UMLS:C0017407|ICD9:351.1|SCTID:72839009|DOID:14075|MESH:D005155 owl:Class MONDO:0005722 biolink:NamedThing croup Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor. tmpaxzxjjyw_mondo_relaxed.owl acute laryngotracheobronchitis|acute obstructive laryngitis|acute laryngotracheitis|croup syndrome NCIT:C26735|MESH:D003440|DOID:9395|SCTID:71186008|EFO:0007227|ICD9:464.4|UMLS:C0010380|ICD10:J05.0 owl:Class GO:0006163 biolink:NamedThing purine nucleotide metabolic process The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine nucleotide metabolism|purine metabolic process|purine metabolism owl:Class GO:0072521 biolink:NamedThing purine-containing compound metabolic process The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. tmpaxzxjjyw_mondo_relaxed.owl purine-containing compound metabolism|purine and derivative metabolic process owl:Class HP:0000290 biolink:NamedThing Abnormality of the forehead An anomaly of the forehead. tmpaxzxjjyw_mondo_relaxed.owl Deformity of the forehead|Malformation of the forehead|Abnormality of the frontal region of the face|Anomaly of the forehead|Abnormality of the forehead UMLS:C4025867 human_phenotype owl:Class MONDO:0003549 biolink:NamedThing adenosquamous bile duct carcinoma An adenosquamous carcinoma that arises from the bile ducts. tmpaxzxjjyw_mondo_relaxed.owl adenosquamous bile duct carcinoma|adenosquamous carcinoma of the bile duct|adenosquamous carcinoma of bile duct|bile duct adenosquamous carcinoma NCIT:C5778|DOID:5624|UMLS:C0861854 owl:Class CHEBI:38869 biolink:NamedThing general anaesthetic Substance that produces loss of consciousness. tmpaxzxjjyw_mondo_relaxed.owl general anesthetics|general anaesthetic|Allgemeinanaesthetikum|Allgemeinanaesthetika|general anaesthetics owl:Class CHEBI:38867 biolink:NamedThing anaesthetic Substance which produces loss of feeling or sensation. tmpaxzxjjyw_mondo_relaxed.owl anaesthetic|anaesthetics|anesthetic agent|anesthetic drug|anesthetics|Anaesthetikum|Anaesthetika owl:Class GO:0043270 biolink:NamedThing positive regulation of ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl up regulation of ion transport|up-regulation of ion transport|activation of ion transport|upregulation of ion transport|stimulation of ion transport owl:Class GO:0043269 biolink:NamedThing regulation of ion transport Any process that modulates the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070727 biolink:NamedThing cellular macromolecule localization Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpaxzxjjyw_mondo_relaxed.owl cellular macromolecule localisation owl:Class GO:0051641 biolink:NamedThing cellular localization A cellular localization process whereby a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a cell including the localization of substances or cellular entities to the cell membrane. tmpaxzxjjyw_mondo_relaxed.owl single organism cellular localization|establishment and maintenance of localization in cell or cell membrane|localization within cell|establishment and maintenance of cellular localization|intracellular localization|cellular localisation|single-organism cellular localization owl:Class MONDO:0004056 biolink:NamedThing bladder papillary urothelial carcinoma An invasive or non-invasive papillary transitional cell carcinoma of the urinary bladder. It is classified as low - or high-grade. -- 2003 tmpaxzxjjyw_mondo_relaxed.owl bladder urothelial papillary carcinoma|urothelial papillary carcinoma of the bladder|urinary bladder papillary transitional cell carcinoma|bladder papillary urothelial carcinoma DOID:6975|UMLS:C1518882|NCIT:C7383 owl:Class MONDO:0005611 biolink:NamedThing bladder transitional cell carcinoma The most common morphologic subtype of urinary bladder carcinoma (over 90% of cases). It arises from the transitional epithelium. It most often affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival. tmpaxzxjjyw_mondo_relaxed.owl transitional cell carcinoma of bladder|bladder urothelial carcinoma|urinary bladder transitional cell carcinoma|urothelial bladder carcinoma|BLCA|urinary bladder urothelial carcinoma|urothelial carcinoma of the urinary bladder|bladder urothelial cancer|transitional cell carcinoma of the urinary bladder|bladder transitional cell carcinoma DOID:4006|UMLS:C0279680|NCIT:C39851|ONCOTREE:BLCA|EFO:0006544|SCTID:255109008 owl:Class MONDO:0008871 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism type I A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits. tmpaxzxjjyw_mondo_relaxed.owl MOPD 1|osteodysplastic primordial dwarfism type I|Cephaloskeletal dysplasia|low-birth-weight dwarfism with skeletal dysplasia|Taybi-Linder syndrome|osteodysplastic primordial dwarfism, type 1|cephaloskeletal dysplasia|microcephalic osteodysplastic primordial dwarfism, type 1|microcephalic osteodysplastic primordial dwarfism, type I|Brachymelic primordial dwarfism|MOPD1|brachymelic primordial dwarfism Orphanet:2636|OMIM:210710|ICD10:Q87.1|SCTID:254102008|DOID:0060608 owl:Class MONDO:0004713 biolink:NamedThing lower gum cancer A cancer involving a gingiva of lower jaw. tmpaxzxjjyw_mondo_relaxed.owl gingiva of lower jaw cancer|malignant tumor of lower gingiva|malignant tumour of lower gum|cancer of gingiva of lower jaw|malignant gingiva of lower jaw neoplasm|malignant neoplasm of gingiva of lower jaw DOID:9125|ICD9:143.1|UMLS:C0432581|ICD10:C03.1|SCTID:363384006 owl:Class MONDO:0005507 biolink:NamedThing gingival cancer A primary or metastatic malignant neoplasm that affects the gums. tmpaxzxjjyw_mondo_relaxed.owl cancer of gingiva|malignant gingival tumor|malignant neoplasm of the gingiva|malignant gum neoplasm|malignant gingival neoplasm|malignant neoplasm of the gum|malignant neoplasm of other sites of gum|malignant neoplasm of gum|malignant neoplasm of gingiva|malignant tumor of gingiva|malignant gum tumor|malignant gingiva neoplasm|malignant tumour of gingiva|malignant tumor of the gingiva|malignant tumor of the gum|gum cancer|gingiva cancer|malignant tumor of gum DOID:8602|ICD9:143.8|SCTID:363382005|NCIT:C9317|MedDRA:10067807|UMLS:C0153364|ICD9:143|ICD10:C03|EFO:0005557|ICD9:143.9|ICD10:C03.9 owl:Class MONDO:0005718 biolink:NamedThing Coronaviridae infectious disease Virus diseases caused by coronaviridae. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010078|EFO:0007223 owl:Class HGNC:20577 biolink:NamedThing CYP26C1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002920 biolink:NamedThing malignant ovarian Brenner tumor A malignant neoplasm that arises from the ovary and is characterized by the presence of an invasive malignant transitional cell component and nests of benign transitional cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good. tmpaxzxjjyw_mondo_relaxed.owl malignant Brenner tumor of ovary|malignant Brenner tumor of the ovary|malignant ovarian Brenner tumor|ovarian Brenner tumor, malignant DOID:4217|UMLS:C0334495|MESH:D001948|ICDO:9000/3|NCIT:C4270|EFO:1000357 owl:Class MONDO:0002370 biolink:NamedThing ovarian Brenner tumor A benign, borderline, or malignant transitional cell neoplasm arising from the ovary. It constitutes between 1% and 2% of all ovarian neoplasms. The average age at presentation is about 50 years. Grossly it is usually unilateral, firm and white or yellowish. Microscopically it consists of solid and cystic nests of epithelial cells resembling transitional epithelium surrounded by an abundant stromal component of dense, fibroblastic nature. tmpaxzxjjyw_mondo_relaxed.owl ovarian Brenner neoplasm|ovarian Brenner tumor|Brenner tumor|ovary Brenner tumor|benign ovarian Brenner tumor|Brenner tumor of the ovary|Brenner neoplasm of the ovary|Brenner neoplasm of ovary|Brenner tumor of ovary NCIT:C39954|DOID:2636|MESH:D001948|SCTID:254859006|EFO:1000112|GARD:0009397|NCIT:C3872 owl:Class CL:0002019 biolink:NamedThing Ly-76 high reticulocyte A reticulocyte that is Ly76-high and is Kit-negative. tmpaxzxjjyw_mondo_relaxed.owl Marker associated with mouse cells. tmeehan 2010-04-26T11:37:00Z cell owl:Class CL:0002422 biolink:NamedThing enucleated reticulocyte A reticulocyte lacking a nucleus and showing a basophilic reticulum under vital staining due to the presence of ribosomes. tmpaxzxjjyw_mondo_relaxed.owl FMA:66785|CALOHA:TS-0864 tmeehan 2010-10-15T09:24:08Z cell owl:Class MONDO:0002870 biolink:NamedThing tricuspid valve insufficiency The backflow of blood from the right ventricle into the right atrium, owning to imperfect functioning/insufficiency of the tricuspid valve. tmpaxzxjjyw_mondo_relaxed.owl tricuspid valve regurgitation|insufficiency, tricuspid|tricuspid regurgitation|tricuspid incompetence|tricuspid insufficiency MESH:D014262|DOID:4080|NCIT:C50842|UMLS:C0040961|SCTID:111287006 owl:Class MONDO:0020674 biolink:NamedThing vascular insufficiency disorder tmpaxzxjjyw_mondo_relaxed.owl vascular insufficiency SCTID:86341008 owl:Class MONDO:0012787 biolink:NamedThing hereditary spastic paraplegia 39 This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia due to NTE mutation|NTE-related motor neuron disorder|spastic paraplegia 39, autosomal recessive|hereditary spastic paraplegia caused by mutation in PNPLA6|autosomal recessive spastic paraplegia type 39|NTEMND|hereditary spastic paraplegia type 39|autosomal recessive spastic paraplegia 39|spastic paraplegia 39|PNPLA6 hereditary spastic paraplegia|SPG39|NTE related motor neuron disorder|spastic paraplegia due to neuropathy target esterase mutation DOID:0110790|UMLS:C4304963|SCTID:719103009|GARD:0004924|ICD10:G11.4|OMIM:612020|UMLS:C2677586|Orphanet:139480|MESH:C567433 owl:Class OBO:CHR_9606-chr3q26 biolink:NamedThing 3q26 (Human) tmpaxzxjjyw_mondo_relaxed.owl 183000000 161000000 hg38 owl:Class MONDO:0010617 biolink:NamedThing male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. tmpaxzxjjyw_mondo_relaxed.owl hypogonadism, MALE, with intellectual disability and skeletal anomalies|hypogonadism, MALE, with mental retardation and skeletal anomalies|Sohval-Soffer syndrome ICD10:Q87.8|Orphanet:2234|MESH:C564406|OMIM:307500|SCTID:722459008 owl:Class MONDO:0018053 biolink:NamedThing trichothiodystrophy Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins). tmpaxzxjjyw_mondo_relaxed.owl trichothiodystrophy syndrome OMIM:616943|OMIM:300953|OMIM:616390|OMIMPS:601675|OMIM:601675|NCIT:C4924|GARD:0012109|SCTID:723551003|UMLS:C1955934|OMIM:234050|ICD10:L67.8|OMIM:616395|Orphanet:33364|MedDRA:10044628 owl:Class MONDO:0018390 biolink:NamedThing male infertility due to sperm disorder tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 ICD10:N46|Orphanet:399771|UMLS:CN227338 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class MONDO:0009213 biolink:NamedThing Fanconi anemia complementation group C Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. tmpaxzxjjyw_mondo_relaxed.owl FACC|Fanconi Anemia, complementation group type C|facc|Fanconi anemia complementation group type C|Fanconi anemia, complementation group C|Fanconi pancytopenia, type 3|FANCC|FA3|Fanconi pancytopenia type 3|Fanconi anemia complementation group C NCIT:C125704|OMIM:227645|UMLS:C3468041|DOID:0111087 owl:Class MONDO:0019391 biolink:NamedThing Fanconi anemia Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. tmpaxzxjjyw_mondo_relaxed.owl primary erythroid hypoplasia|Fanconi panmyelopathy|Panmyelopathy, Fanconi|Fanconi pancytopenia|Fanconi anemia|Fanconi's anemia|pancytopenia, congenital OMIMPS:227650|OMIM:609054|OMIM:227646|SCTID:30575002|OMIM:609053|OMIM:613951|OMIM:614083|OMIM:227650|OMIM:613390|UMLS:C0015625|OMIM:227645|OMIM:610832|MedDRA:10055206|NCIT:C62505|Orphanet:84|ICD10:D61.0|ICD9:284.09|MESH:D005199|OMIM:600901|ICD10:D61.09|GARD:0006425|DOID:13636|OMIM:614082|OMIM:616435|OMIM:603467|OMIM:300514|OMIM:615272 owl:Class MONDO:0019164 biolink:NamedThing 6q terminal deletion syndrome 6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304514|SCTID:719666002|UMLS:CN205719|Orphanet:75857|ICD10:Q93.5 owl:Class NCBITaxon:776 biolink:NamedThing Coxiella tmpaxzxjjyw_mondo_relaxed.owl Coxiella|Burnetia GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:118968 biolink:NamedThing Coxiellaceae tmpaxzxjjyw_mondo_relaxed.owl Coxiella group GC_ID:11|PMID:16280474 ncbi_taxonomy owl:Class CHEBI:29745 biolink:NamedThing barbiturate Conjugate base of barbituric acid. tmpaxzxjjyw_mondo_relaxed.owl 2,4,6-trioxotetrahydro-2H-pyrimidin-1-ide|barbiturate anion owl:Class CHEBI:22691 biolink:NamedThing barbiturate anion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006427 biolink:NamedThing spindle cell melanoma A melanoma characterized by the presence of malignant spindle-shaped melanocytes. tmpaxzxjjyw_mondo_relaxed.owl spindle cell malignant melanoma|spitzoid malignant melanoma|spindle cell melanoma|desmoplastic melanoma|malignant spindle cell melanoma NCIT:C4237|ICDO:8772/3|SCTID:403923002|EFO:1000546|UMLS:C0334444|DOID:3162 owl:Class MONDO:0020664 biolink:NamedThing spindle cell neoplasm A benign or malignant neoplasm characterized by the presence of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl spindle cell tumor|spindle cell neoplasm NCIT:C27263|EFO:0000705 owl:Class HGNC:21244 biolink:NamedThing LEMD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012251 biolink:NamedThing ectocervical epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0100845 biolink:NamedThing Anaphylactic shock An acute hypersensitivity reaction due to exposure to a previously encountered antigen. tmpaxzxjjyw_mondo_relaxed.owl Anaphylaxis UMLS:C0002792|MSH:D000707|SNOMEDCT_US:39579001 Anaphylaxis may lead to rapidly progressing urticaria, respiratory distress, vascular collapse, systemic shock, and death if untreated. doelkens 2011-06-09T06:54:40Z human_phenotype owl:Class HP:0100326 biolink:NamedThing Immunologic hypersensitivity Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0237653 doelkens 2010-09-16T06:00:43Z human_phenotype owl:Class HGNC:20145 biolink:NamedThing GPR143 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036294 biolink:NamedThing mucosa of lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100157 biolink:NamedThing Imerslund-Grasbeck syndrome type 2 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF). tmpaxzxjjyw_mondo_relaxed.owl megaloblastic anemia, Norwegian type OMIM:618882 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0003674 biolink:NamedThing molecular_function A molecular process that can be carried out by the action of a single macromolecular machine, usually via direct physical interactions with other molecular entities. Function in this sense denotes an action, or activity, that a gene product (or a complex) performs. These actions are described from two distinct but related perspectives: (1) biochemical activity, and (2) role as a component in a larger system/process. tmpaxzxjjyw_mondo_relaxed.owl molecular function molecular process owl:Class UBERON:0004221 biolink:NamedThing intestine smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004226 biolink:NamedThing gastrointestinal system smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006969 biolink:NamedThing sialadenitis Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front ofthe ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. Sialadenitis most commonly affects the elderly and chronically ill especially those with dry mouth or who are dehydrated, but can also affected people of any age including newborn babies. Diagnosis is usually made by clinical exam but a CT scan, MRI scan or ultrasound may be done if the doctor suspects an abscess or to look for stones. Treatment may include an antibiotic (if bacterial), warm compresses, increasing fluid intake and good oral hygiene. Most salivary gland infections go away on their own or are cured with treatment. Complications are not common. tmpaxzxjjyw_mondo_relaxed.owl sialoadenitis|sialitis|salivary gland inflammation|saliva-secreting gland lymphadenitis (disease)|lymphadenitis (disease) of saliva-secreting gland|adenitis, salivary gland DOID:10303|SCTID:42982001|NCIT:C115165|ICD10:K11.20|ICD10:K11.2|EFO:1001179|ICD9:527.2|MESH:D012793|MedDRA:10040627|GARD:0007638|UMLS:C0037023 Editor note: TODO check NCIT mapping https://rarediseases.info.nih.gov/diseases/7638/sialadenitis owl:Class MONDO:0002052 biolink:NamedThing lymphadenitis Acute or chronic inflammation of one or more lymph nodes. It is usually caused by an infectious process. tmpaxzxjjyw_mondo_relaxed.owl lymph gland infection|chronic lymphadenitis|lymph node inflammation|acute lymphadenitis|lymph nodeitis|Inflammation of lymph node|lymphadenitis|inflammation of lymph node|adenitis|lymphadenitis (disease)|chronic adenitis|acute adenitis lymphadenitis (disease) UMLS:C0154304|HP:0002840|MESH:D008199|ICD10:L04|ICD9:289.1|UMLS:C0024205|ICD10:L04.9|ICD10:I88.1|NCIT:C26821|SCTID:41174002|UMLS:C0157705|DOID:1602|ICD10:I88.9|ICD9:683 owl:Class MONDO:0044917 biolink:NamedThing T-lymphoblastic lymphoma The most frequent type of lymphoblastic lymphoma. It comprises approximately 85-90% of cases. It is more frequently seen in adolescent males. It frequently presents with a mass lesion in the mediastinum. Pleural effusions are common. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl precursor T-lymphoblastic lymphoma|precursor T-cell Lymphoblastic lymphoma|T-Lymphoblastic lymphoma|T-lymphoblastic lymphoma|Precur. T-lymphoblastic lymphoma|T Lymphoblastic lymphoma|precursor T-Lymphoblastic lymphoma|precursor T Lymphoblastic lymphoma NCIT:C6919|EFO:1001830|SCTID:421246008 owl:Class MONDO:0000873 biolink:NamedThing lymphoblastic lymphoma A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma. tmpaxzxjjyw_mondo_relaxed.owl lymphoblastic lymphoma|precursor lymphoblastic lymphoma|precursor cell lymphoblastic lymphoma|lymphoma, lymphoblastic, malignant|lymphoma, lymphoblastic SCTID:109965004|GARD:0003329|ICD9:202.80|ICDO:9727/3|NCIT:C9360|UMLS:C0079748|DOID:0080147 https://rarediseases.info.nih.gov/diseases/3329/lymphoblastic-lymphoma owl:Class UBERON:0001435 biolink:NamedThing carpal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003656 biolink:NamedThing mesopodium bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:24945 biolink:NamedThing GPIHBP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011316 biolink:NamedThing osteosclerotic chondrodysplasia, lethal, with intracellular inclusions tmpaxzxjjyw_mondo_relaxed.owl osteosclerotic chondrodysplasia, lethal, with intracellular inclusions MESH:C566378|UMLS:C1863920|OMIM:603393 owl:Class GO:0051180 biolink:NamedThing vitamin transport The directed movement of vitamins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpaxzxjjyw_mondo_relaxed.owl vitamin or cofactor transport owl:Class GO:0006810 biolink:NamedThing transport The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein. tmpaxzxjjyw_mondo_relaxed.owl single-organism transport|solute:solute exchange|small molecule transport owl:Class MONDO:0011271 biolink:NamedThing rigid spine muscular dystrophy 1 An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage. tmpaxzxjjyw_mondo_relaxed.owl multiminicore disease, Severe classic form|classic MmD|muscular dystrophy, congenital, merosin-positive, with early spine rigidity|severe classic form minicore myopathy|RSS|severe classic form multiminicore disease|Eichsfeld type congenital muscular dystrophy|rigid spine syndrome caused by mutation in SELENON|congenital merosin-positive muscular dystrophy with early spine rigidity|classic multiminicore disease|minicore myopathy, Severe classic form|SEPN1-related myopathy|muscular dystrophy, congenital, Eichsfeld type|SELENON rigid spine syndrome|rigid spine syndrome|RSMD1|severe classic form multicore myopathy|desmin-related myopathy with Mallory bodies|multicore myopathy, Severe classic form|rigid spine muscular dystrophy 1|myopathy, Sepn1-related|classic multiminicore myopathy|MDRS1|rigid spine muscular dystrophy type 1 Orphanet:324604|ICD10:G71.2|MESH:C535683|DOID:0110633|UMLS:C0410180|Orphanet:598|OMIM:602771|ICD10:G71.8|SCTID:240063002|NCIT:C126691|Orphanet:84132|Orphanet:97244 owl:Class MONDO:0100100 biolink:NamedThing SELENON-related myopathy Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present. tmpaxzxjjyw_mondo_relaxed.owl SELENON-related myopathy|SEPN1-related myopathy http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0033261 biolink:NamedThing hearing loss, autosomal dominant 34, with or without inflammation tmpaxzxjjyw_mondo_relaxed.owl DFNA34|autosomal dominant nonsyndromic deafness 34|deafness, autosomal dominant 34, with or without inflammation OMIM:617772|DOID:0080270|UMLS:CN653906 owl:Class CL:0000669 biolink:NamedThing pericyte cell An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. Pericytes are present in capillaries where proper adventitia and muscle layer are missing (thus distingushing this cell type from adventitial cells). They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. tmpaxzxjjyw_mondo_relaxed.owl adventitial cell|ARC|pericyte|pericyte of Rouget|adventitial reticular cell|cell of Rouget FMA:63174|BTO:0002441 Pericytes are CD10-positive, CD13-positive, CD31-negative, CD45-negative, CD106-positive, CD117-negative, CD140-positive, CD144-negative, CD146-positive, CD271-positive, CD325-positive, NG2-positive, RGS5-positive, SMA-positive, and desmin-positive. A subpopulation is CD248-positive. They are also capable of producing angiopoietin 1, CXCL12, TGF-beta, and VEGF-A. CL:0000184 cell owl:Class CL:0000183 biolink:NamedThing contractile cell A cell whose primary function is to shorten. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0007355 biolink:NamedThing uveal coloboma-cleft lip and palate-intellectual disability Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl coloboma, cleft lip/palate and intellectual disability syndrome|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability|uveal coloboma-cleft lip/palate-intellectual disability syndrome|COB1|coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation|uveal coloboma-cleft lip/palate-mental retardation syndrome|coloboma-microphthalmos syndrome|uveal coloboma-cleft lip and palate-intellectual disability|coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate|coloboma, cleft lip/palate and mental retardation syndrome Orphanet:1473|MESH:C535971|DOID:0111249|OMIM:120433|GARD:0001440|UMLS:C0795902|ICD10:Q12.2 owl:Class MONDO:0008692 biolink:NamedThing abetalipoproteinemia Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations. tmpaxzxjjyw_mondo_relaxed.owl Betalipoprotein deficiency disease|apolipoprotein B deficiency|abetalipoproteinemia neuropathy|abetalipoproteinemia|MTP deficiency|Bassen Kornzweig syndrome|microsomal triglyceride transfer protein deficiency disease|acanthocytosis|microsomal triglyceride transfer Protein deficiency|Bassen-Kornzweig disease|homozygous familial hypobetalipoproteinemia|familial hypobetalipoproteinemia|ABL|Bassen-Kornzweig syndrome|congenital betalipoprotein deficiency syndrome ICD10:E78.6|GARD:0000005|OMIM:200100|MESH:D000012|NCIT:C84525|UMLS:C0000744|Orphanet:14|DOID:1386|SCTID:190787008 owl:Class MONDO:0017774 biolink:NamedThing hypobetalipoproteinemia A group of lipoprotein metabolism disorders that are characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol. tmpaxzxjjyw_mondo_relaxed.owl hypo-beta-lipoproteinemia ICD10:E78.6|MESH:D006995|DOID:1390|Orphanet:426|UMLS:C0020597|Orphanet:31154|SCTID:190786004 owl:Class MONDO:0005316 biolink:NamedThing bacterial vaginosis Infection caused by bacterial overgrowth in the vagina. Most affected women are asymptomatic. When symptoms occur, they include foul-smelling vaginal discharge, vaginal itching, and burning. Risk factors include sexual activity with multiple partners and the use of vaginal douches and intrauterine devices. Up to a third of cases resolve without treatment. Antibiotic treatment is recommended when symptoms are present and for women that are pregnant at the time of infection. tmpaxzxjjyw_mondo_relaxed.owl BV DOID:3385|EFO:0003932|MESH:D016585|UMLS:C0085166|SCTID:419760006|NCIT:C116973 owl:Class MONDO:0023557 biolink:NamedThing infective vaginitis An infectious process affecting the vagina. Symptoms include pain and purulent discharge. tmpaxzxjjyw_mondo_relaxed.owl PV - Vaginal infection|Vaginal Infection|Infective vaginitis|vaginal infection|Vaginal infection NCIT:C84353|SCTID:237091009|UMLS:C0404521 owl:Class MONDO:0005256 biolink:NamedThing moderate heart failure Heart failure characterized by marked limitation in activity due to symptoms, even during less-than-ordinary activity, e.g. walking short distances (20b100 m). Patients with moderate heart failure are comfortable only at rest. tmpaxzxjjyw_mondo_relaxed.owl Wikipedia:New_York_Heart_Association_Functional_Classification|EFO:0003148 owl:Class MONDO:0005254 biolink:NamedThing symptomatic heart failure A heart failure which results in symptoms such as shortness of breath, fatigue, inability to exerciseb& etc tmpaxzxjjyw_mondo_relaxed.owl EFO:0003146 owl:Class MONDO:0013764 biolink:NamedThing Joubert syndrome 16 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM138 gene. tmpaxzxjjyw_mondo_relaxed.owl JBTS16|TMEM138 Joubert syndrome|Joubert syndrome caused by mutation in TMEM138|Joubert syndrome 16|Joubert syndrome type 16 UMLS:C3280906|OMIM:614465|DOID:0110985|Orphanet:2318 owl:Class MONDO:0009480 biolink:NamedThing Joubert syndrome with oculorenal defect Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome with oculorenal anomalies|Dekaban-Arima syndrome|Joubert syndrome 5|Joubert syndrome with oculorenal defect|JS type B|Cerebellooculorenal syndrome|cerebello-oculo-renal syndrome|cerebro-oculo-hepato-renal syndrome|Joubert syndrome with Senior-Loken syndrome|coloboma, chorioretinal, with cerebellar vermis aplasia|JS-OR|Joubert syndrome with bilateral chorioretinal coloboma|chorioretinal coloboma with cerebellar vermis aplasia|Arima syndrome|Dekaban Arima syndrome|cerebrooculohepatorenal syndrome|CORS SCTID:721862000|OMIM:610188|OMIM:612285|OMIM:614465|OMIM:614424|OMIM:608091|GARD:0009455|OMIM:614844|OMIM:243910|ICD10:Q04.3|MESH:C537430|UMLS:C1855675|Orphanet:2318 https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies owl:Class MONDO:0032780 biolink:NamedThing hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities tmpaxzxjjyw_mondo_relaxed.owl HIDEA|HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES OMIM:618493 owl:Class MONDO:0003839 biolink:NamedThing ovarian mucinous adenocarcinofibroma A malignant neoplasm of the ovary with an invasive epithelial component and a fibrotic stroma. The epithelial component is characterized by the presence of malignant epithelial cells with intracytoplasmic mucin. Cystic spaces are also present which contain mucoid material. tmpaxzxjjyw_mondo_relaxed.owl ovarian mucinous malignant adenofibroma|ovarian mucinous adenocarcinofibroma UMLS:C2212014|ICDO:9015/3|DOID:6278|NCIT:C40034 owl:Class MONDO:0002991 biolink:NamedThing adenocarcinofibroma A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells in a fibrotic stroma. Histologic variants include clear cell, serous, mucinous, and endometrioid adenocarcinofibroma. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinofibroma|malignant adenofibroma|adenofibroma, malignant DOID:4422|NCIT:C40035|UMLS:C1510778 owl:Class GO:0065009 biolink:NamedThing regulation of molecular function Any process that modulates the frequency, rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. tmpaxzxjjyw_mondo_relaxed.owl regulation of a molecular function owl:Class MONDO:0007343 biolink:NamedThing isolated congenital digital clubbing Isolated congenital digital clubbing is a rare genodermatosis disorder characterized by enlargement of the terminal segments of fingers and toes with thickened nails without any other abnormality. tmpaxzxjjyw_mondo_relaxed.owl clubbing of digits|acropachy, hereditary|digital clubbing, isolated congenital|isolated congenital nail clubbing|isolated congenital acropachy ICD10:Q68.1|OMIM:119900|Orphanet:217059 owl:Class MONDO:0019284 biolink:NamedThing inherited isolated nail anomaly A nail anomaly that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl nail disorder, nonsyndromic congenital|nonsyndromic nail anomaly|isolated nail anomaly Orphanet:79369|OMIMPS:161050 owl:Class MONDO:0018696 biolink:NamedThing corticobasal syndrome Corticobasal syndrome (CBS) is a rare neurodegenerative disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:454887|ICD10:G31.0|UMLS:CN237765 owl:Class GO:0001868 biolink:NamedThing regulation of complement activation, lectin pathway Any process that modulates the frequency, rate or extent of the lectin pathway of complement activation. tmpaxzxjjyw_mondo_relaxed.owl regulation of complement cascade, lectin pathway owl:Class GO:0045088 biolink:NamedThing regulation of innate immune response Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000758 biolink:NamedThing bacillary angiomatosis A condition that is caused by infection with Bartonella, and which is characterized by vascular proliferation, usually in immunocompromised individuals. tmpaxzxjjyw_mondo_relaxed.owl bacillary angiomatosis|bacillary epithelioid Angiomatoses|epithelioid Angiomatoses, bacillary|angiomatoses, bacillary epithelioid|epithelioid Angiomatoses|Bartonella angiomatosis|angiomatosis, bacillary epithelioid|Bartonella caused angiomatosis|angiomatosis, epithelioid|bacillary Angiomatoses|epithelioid angiomatosis|angiomatoses, bacillary|angiomatoses, epithelioid|bacillary epithelioid angiomatosis|epithelioid angiomatosis, bacillary NCIT:C3477|ICD9:083.8|SCTID:58213005|MESH:D016917|DOID:0060345|UMLS:C0085434 owl:Class MONDO:0005664 biolink:NamedThing bartonellosis An infectious disease produced by bacteria of the genus Bartonella. tmpaxzxjjyw_mondo_relaxed.owl Bartonella caused disease or disorder|Bartonella infectious disease|Bartonella infection|Rochalimaea infection|Rochalimaea infections|bartonelliasis|Rochalimaea infection (disorder)|Bartonella disease or disorder NCIT:C84586|MESH:D001474|UMLS:C0004771|ICD9:088.0|ICD10:A44.9|EFO:0007166|ICD10:A44|DOID:11102|SCTID:266123003 owl:Class UBERON:0002196 biolink:NamedThing adenohypophysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000951 biolink:NamedThing thymus lymphoma A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma. tmpaxzxjjyw_mondo_relaxed.owl Thymus lymphoma|thymus lymphoma|lymphoma of thymus|lymphoma of Thymus|thymic lymphoma|primary thymic lymphoma|lymphoma of the Thymus UMLS:C1336745|NCIT:C6451|EFO:1000054|DOID:10146 owl:Class UBERON:0010074 biolink:NamedThing chromaffin system tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12805 biolink:NamedThing XDH tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:28486 biolink:NamedThing MFSD8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018202 biolink:NamedThing gonadal germ cell tumor tmpaxzxjjyw_mondo_relaxed.owl Orphanet:363582|UMLS:CN204712 owl:Class CHEBI:35992 biolink:NamedThing penams Natural and synthetic antibiotics containing the 4-thia-1-azabicyclo[3.2.0]heptan-7-one structure, generally assumed to have the 5R configuration unless otherwise specified. tmpaxzxjjyw_mondo_relaxed.owl penams owl:Class MONDO:0007259 biolink:NamedThing craniofaciofrontodigital syndrome Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). tmpaxzxjjyw_mondo_relaxed.owl craniofaciofrontodigital syndrome|Cantu craniofaciofrontodigital syndrome UMLS:C2676032|OMIM:114620|ICD10:Q87.0|SCTID:763320005|Orphanet:363705|MESH:C567298 owl:Class MONDO:0004504 biolink:NamedThing penile urethral cancer A urethra cancer that involves the penis. tmpaxzxjjyw_mondo_relaxed.owl penis urethra cancer|urethra cancer of penis|penile urethral malignant neoplasm UMLS:C1518950|DOID:8223|NCIT:C39868 owl:Class MONDO:0014915 biolink:NamedThing short-rib thoracic dysplasia 16 with or without polydactyly tmpaxzxjjyw_mondo_relaxed.owl SRTD16|short-rib thoracic dysplasia 16 with or without polydactyly; SRTD16|short-rib thoracic dysplasia 16 with or without polydactyly UMLS:C4310718|OMIM:617102 owl:Class MONDO:0009032 biolink:NamedThing cranioectodermal dysplasia Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa). tmpaxzxjjyw_mondo_relaxed.owl Sensenbrenner syndrome|CED|cranioectodermal dysplasia|Levin syndrome OMIMPS:218330|OMIM:614378|OMIM:614099|OMIM:613610|OMIM:218330|OMIM:617102|Orphanet:1515|UMLS:CN119432|ICD10:Q87.5|DOID:0050577|NCIT:C129305|UMLS:CN016627|GARD:0000359|ICD9:756.9|UMLS:C0432235|SCTID:254093009 owl:Class MONDO:0010653 biolink:NamedThing Renpenning syndrome Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, Renpenning type|intellectual disability, X-linked, syndromic 8|X-linked intellectual disability Renpenning type|RENS1|intellectual disability, X-linked 55|mental retardation, X-linked 55|mental retardation, X-linked, syndromic 3|mental retardation, X-linked Renpenning type|X-linked mental retardation syndromic 3|Sutherland-Haan X-linked mental retardation syndrome|Golabi-Ito-Hall syndrome|Renpenning syndrome|X-linked mental retardation with spastic diplegia|syndromic X-linked mental retardation 8|MRXS8|intellectual disability, X-linked, with spastic diplegia|mental retardation, X-linked, syndromic 8|X-linked mental retardation Renpenning type|syndromic X-linked intellectual disability 8|intellectual disability, X-linked, Renpenning type|X-linked intellectual disability, Renpenning type|mental retardation, X-linked, with spastic diplegia|MRXS3|intellectual disability, X-linked Renpenning type|X-linked intellectual disability syndromic 3|X-linked intellectual disability with spastic diplegia|X-linked intellectual disability due to PQBP1 mutations|Sutherland-Haan X-linked intellectual disability syndrome|Sutherland-Haan syndrome|intellectual disability, X-linked, syndromic 3|Renpenning syndrome 1|Renpenning syndrome type 1 OMIM:309500|MESH:C537761|GARD:0009509|SCTID:699669001|DOID:0060179|Orphanet:3242|ICD9:759.89|UMLS:C0796135|ICD10:Q87.5 owl:Class MONDO:0010627 biolink:NamedThing X-linked lymphoproliferative syndrome X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV). tmpaxzxjjyw_mondo_relaxed.owl Duncan disease|SH2D1A-related lymphoproliferative disease, X-linked|X-linked lymphoproliferative syndrome|XLP1|lymphoproliferative syndrome, X-linked, type 1|X-linked lymphoproliferative syndrome 1|lymphoproliferative syndrome, X-linked, 1|Purtilo syndrome|X-linked lymphoproliferative disease|XLP|lymphoproliferative syndrome, X-linked|X-linked lymphoproliferative syndrome type 1|lymphoproliferative syndrome X-linked 1 MESH:D008232|ICD10:D82.3|MedDRA:10068348|NCIT:C61246|OMIM:308240|UMLS:C0549463|DOID:0060705|OMIM:300635|ICD9:238.79|Orphanet:2442|GARD:0007906|SCTID:77121009 Editor note: two OMIMPS https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1 owl:Class MONDO:0015541 biolink:NamedThing genetic hemophagocytic lymphohistiocytosis Genetic hemophagocytic lymphohistiocytosis. tmpaxzxjjyw_mondo_relaxed.owl genetic hemophagocytic syndrome|primary hemophagocytic lymphohistiocytosis|familial hemophagocytic lymphohistiocytosis|genetic hemophagocytic lymphohistiocytosis UMLS:C0272199|MedDRA:10070904|SCTID:398250003|OMIMPS:267700|ICD9:238.79|Orphanet:540 owl:Class MONDO:0007345 biolink:NamedThing aorta coarctation Congenital narrowing of a segment of the aorta. Signs and symptoms include hypertension, muscle weakness, shortness of breath, headaches and leg cramps. tmpaxzxjjyw_mondo_relaxed.owl coarctation of aorta|aortic coarctation|coarctation of the aorta MESH:D001017|Orphanet:1457|ICD9:747.10|ICD10:Q25.1|OMIM:120000|SCTID:7305005|MedDRA:10009807|GARD:0005828|UMLS:C0003492|EFO:1001267|NCIT:C84567 owl:Class MONDO:0020286 biolink:NamedThing aortic malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98718 owl:Class MONDO:0015308 biolink:NamedThing laminopathy type Decaudain-Vigouroux Laminopathy, type Decaudain-Vigouroux is characterised by severe metabolic alterations (insulin resistance or hyperinsulinaemia, hypertriglyceridaemia with low HDL-cholesterol, and altered glucose tolerance) and muscular hypertrophy, myalgia, or weakness. tmpaxzxjjyw_mondo_relaxed.owl laminopathy with severe metabolic syndrome and myopathy Orphanet:137871|UMLS:C4518324|ICD10:E88.8|SCTID:724205009 owl:Class UBERON:0005258 biolink:NamedThing upper arm mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007808 biolink:NamedThing adipose tissue of abdominal region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003567 biolink:NamedThing abdomen connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001005 biolink:NamedThing respiratory airway tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000098 biolink:NamedThing 4-year-old human stage Child stage that refers to a child who is over 4 and under 5 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013977 biolink:NamedThing combined oxidative phosphorylation defect type 13 Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive. tmpaxzxjjyw_mondo_relaxed.owl COXPD13|combined oxidative phosphorylation deficiency type 13|combined oxidative phosphorylation deficiency 13|combined oxidative phosphorylation deficiency caused by mutation in PNPT1|PNPT1 combined oxidative phosphorylation deficiency OMIM:614932|DOID:0111467|UMLS:C3554129|ICD10:G71.3|SCTID:763110007|Orphanet:319514 owl:Class MONDO:0001511 biolink:NamedThing thyrotoxic exophthalmos tmpaxzxjjyw_mondo_relaxed.owl ICD9:376.21|SCTID:19885005|DOID:12362|UMLS:C0155265 owl:Class MONDO:0001509 biolink:NamedThing endocrine exophthalmos tmpaxzxjjyw_mondo_relaxed.owl DOID:12359|UMLS:C0155264|ICD9:376.2|SCTID:276177000 owl:Class UBERON:0001319 biolink:NamedThing vaginal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1353 biolink:NamedThing C8B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007253 biolink:NamedThing cancer, familial, with in vitro Radioresistance tmpaxzxjjyw_mondo_relaxed.owl cancer, familial, with in vitro RADIORESISTANCE UMLS:C1861915|OMIM:114450|MESH:C566179 owl:Class MONDO:0030995 biolink:NamedThing global developmental delay with speech and behavioral abnormalities tmpaxzxjjyw_mondo_relaxed.owl GDSBA OMIM:619243 owl:Class GO:0051148 biolink:NamedThing negative regulation of muscle cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of muscle cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of muscle cell differentiation|down-regulation of muscle cell differentiation|inhibition of muscle cell differentiation|down regulation of muscle cell differentiation owl:Class GO:0045596 biolink:NamedThing negative regulation of cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of cell differentiation|down-regulation of cell differentiation|inhibition of cell differentiation|down regulation of cell differentiation owl:Class MONDO:0010558 biolink:NamedThing choroideremia-deafness-obesity syndrome Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. tmpaxzxjjyw_mondo_relaxed.owl choroideremia, deafness, and mental retardation|choroideremia deafness obesity|choroideremia, obesity, and congenital deafness|Ayazi syndrome|chromosome Xq21 deletion syndrome|choroideremia, deafness, and intellectual disability OMIM:303110|GARD:0000369|Orphanet:1435|SCTID:717761005|MESH:C537793|UMLS:C1844836|ICD10:Q87.8 owl:Class CL:0002114 biolink:NamedThing CD38-positive unswitched memory B cell A CD38-positive unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-positive, IgD-positive, CD138-negative, and IgG-negative. tmpaxzxjjyw_mondo_relaxed.owl CD38+ unswitched memory B cell|CD38-positive unswitched memory B lymphocyte|CD38-positive unswitched memory B-lymphocyte|CD38-positive unswitched memory B-cell|CD38+ unswitched memory B-cell|CD38+ unswitched memory B lymphocyte|CD38+ unswitched memory B-lymphocyte cell owl:Class CL:0000970 biolink:NamedThing unswitched memory B cell An unswitched memory B cell is a memory B cell that has the phenotype IgM-positive, IgD-positive, CD27-positive, CD138-negative, IgG-negative, IgE-negative, and IgA-negative. tmpaxzxjjyw_mondo_relaxed.owl unswitched memory B-cell|IgD+ memory B cell|unswitched memory B lymphocyte|unswitched memory B-lymphocyte|non-class-switched memory B cell This cell type is compatible with the HIPC Lyoplate markers for 'IgD+ memory B cell'. Per DSD: Unswitched memory B cells are also reportedly CD48-positive, CD84-positive, CD229-positive, and CD352-positive. cell owl:Class HGNC:14198 biolink:NamedThing ELAC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017195 biolink:NamedThing Bruck syndrome Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. tmpaxzxjjyw_mondo_relaxed.owl osteogenesis imperfecta with congenital joint contractures|osteogenesis imperfecta-congenital joint contractures syndrome OMIM:609220|UMLS:C0432253|DOID:0060231|UMLS:C1836602|UMLS:C1850168|OMIM:259450|MedDRA:10063718|ICD9:733.99|ICD10:M21.8|Orphanet:2771|SCTID:254113006 owl:Class MONDO:0016530 biolink:NamedThing laryngocele A rare congenital malformation in the larynx. It is characterized by the presence of an air-filled sac within the laryngeal wall which may bulge on the neck. tmpaxzxjjyw_mondo_relaxed.owl MESH:D059608|Orphanet:2372|NCIT:C97062|SCTID:51523009|MedDRA:10023885|ICD9:748.3|ICD10:Q31.3|UMLS:C0265761|GARD:0003191 https://rarediseases.info.nih.gov/diseases/3191/laryngocele owl:Class MONDO:0015504 biolink:NamedThing larynx anomaly tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q31.9|Orphanet:156249|ICD10:Q31.3|ICD10:Q31.8|ICD10:Q31.0|ICD10:Q31.1|ICD10:Q31.5 owl:Class GO:0034651 biolink:NamedThing cortisol biosynthetic process The chemical reactions and pathways resulting in the formation of cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. tmpaxzxjjyw_mondo_relaxed.owl cortisol formation|cortisol anabolism|cortisol biosynthesis|cortisol synthesis owl:Class GO:0120255 biolink:NamedThing olefinic compound biosynthetic process The chemical reactions and pathways resulting in the formation of an olefinic compound, any compound which contains a carbon-carbon double bond (aka C=C). tmpaxzxjjyw_mondo_relaxed.owl alkene substituted compound anabolic process|alkene substituted compound biosynthetic process|alkene substituted compound biosynthesis|alkene substituted compound anabolism|alkene substituted compound synthesis owl:Class CHEBI:47882 biolink:NamedThing cyclic polypyrrole tmpaxzxjjyw_mondo_relaxed.owl polypyrrole macrocycles|macrocyclic polypyrroles|cyclic polypyrroles owl:Class CHEBI:38077 biolink:NamedThing polypyrrole A compound composed of two or more pyrrole units. tmpaxzxjjyw_mondo_relaxed.owl polypyrroles|PPys|poly(pyrrole)s owl:Class MONDO:0000209 biolink:NamedThing prenatal-onset spinal muscular atrophy with congenital bone fractures tmpaxzxjjyw_mondo_relaxed.owl SMABF|spinal muscular atrophy with congenital bone fractures UMLS:CN238807|Orphanet:486811|OMIM:616867|OMIM:616866|OMIMPS:616866 owl:Class UBERON:0003371 biolink:NamedThing pelvic appendage bud ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010150 biolink:NamedThing head and neck squamous cell carcinoma A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma, head and neck|SCCHN|craniocervical region squamous cell carcinoma|squamous cell carcinoma of the head and neck|carcinoma of the head and neck|squamous cell carcinoma of head and neck|squamous cell carcinomas of head and neck|head and neck squamous cell carcinoma|HNSCC MESH:C535575|Orphanet:67037|EFO:0000181|OMIM:275355|MedDRA:10060121|SCTID:716659002|NCIT:C34447|DOID:5520|UMLS:C1168401|ONCOTREE:HNSC owl:Class MONDO:0013636 biolink:NamedThing primary biliary cholangitis 4 tmpaxzxjjyw_mondo_relaxed.owl PBC4|biliary cirrhosis, primary, 4 OMIM:614220|UMLS:C3280201|Orphanet:186 owl:Class HGNC:7566 biolink:NamedThing MYF6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019037 biolink:NamedThing progressive supranuclear palsy Progressive supranuclear palsy (PSP) is a rare late-onset neurodegenerative disease characterized by supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. tmpaxzxjjyw_mondo_relaxed.owl Steele-Richardson-Olszewski syndrome|familial progressive supranuclear palsy (type)|PSP syndrome|progressive supranuclear ophthalmoplegia|supranuclear palsy, progressive ICD10:G23.1|OMIM:609454|UMLS:C0038868|NCIT:C85028|GARD:0007471|OMIM:601104|OMIM:260540|UMLS:CN205522|SCTID:192976002|MESH:D013494|OMIM:610898|DOID:678|ICD9:333.0|MedDRA:10036813|Orphanet:683 owl:Class CHEBI:75603 biolink:NamedThing EC 6.* (ligase) inhibitor Any enzyme inhibitor that interferes with the action of a ligase (EC 6.*.*.*). Ligases are enzymes that catalyse the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpaxzxjjyw_mondo_relaxed.owl EC 6.* inhibitor|EC 6.*.*.* inhibitors|EC 6.* inhibitors|ligase inhibitors|EC 6.*.*.* inhibitor|EC 6.* (ligase) inhibitors|ligase inhibitor owl:Class CHEBI:23924 biolink:NamedThing enzyme inhibitor A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. tmpaxzxjjyw_mondo_relaxed.owl inhibidores enzimaticos|inhibiteurs enzymatiques|inhibiteur enzymatique|enzyme inhibitor|inhibidor enzimatico|enzyme inhibitors owl:Class HP:0000966 biolink:NamedThing Hypohidrosis Abnormally diminished capacity to sweat. tmpaxzxjjyw_mondo_relaxed.owl Sweating, decreased|Decreased sweating|Inadequate sweating|Decreased ability to sweat|Oligohidrosis MSH:D007007|MEDDRA:10021013|SNOMEDCT_US:45004005|UMLS:C0020620 HP:0007551|HP:0007571 human_phenotype owl:Class HP:0007550 biolink:NamedThing Hypohidrosis or hyperhidrosis tmpaxzxjjyw_mondo_relaxed.owl Lack of sweating or excessive sweating UMLS:C4021831 human_phenotype owl:Class MONDO:0016109 biolink:NamedThing autosomal recessive distal myopathy Autosomal recessive form of distal myopathy. tmpaxzxjjyw_mondo_relaxed.owl distal myopathy, autosomal recessive UMLS:CN229019|ICD10:G71.0|Orphanet:206653 owl:Class HGNC:9236 biolink:NamedThing PPARG tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001519 biolink:NamedThing skin of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015790 biolink:NamedThing autopod skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007124 biolink:NamedThing pharyngeal pouch 3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004117 biolink:NamedThing pharyngeal pouch tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000031 biolink:NamedThing Epididymitis The presence of inflammation of the epididymis. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:31070006|UMLS:C0014534|MSH:D004823 human_phenotype owl:Class HP:0009714 biolink:NamedThing Abnormality of the epididymis An abnormality of the epididymis. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4024222 The epididymis is the structure that connects efferent ductules to vas deferens. peter 2009-01-30T11:44:43Z human_phenotype owl:Class NCBITaxon:291484 biolink:NamedThing Hepeviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732543 biolink:NamedThing Hepelivirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006235 biolink:NamedThing foregut-midgut junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007651 biolink:NamedThing anatomical junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016493 biolink:NamedThing variant of Guillain-Barre syndrome tmpaxzxjjyw_mondo_relaxed.owl variant of Guillain-Barré syndrome|variant of GBS Orphanet:231413|ICD10:G61.0|UMLS:CN201495 owl:Class MONDO:0016218 biolink:NamedThing Guillain-Barre syndrome A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants. tmpaxzxjjyw_mondo_relaxed.owl Landry-Guillain-Barre-Strohl syndrome|Guillain-Barre-Strohl syndrome|GBS|acute inflammatory demyelinating polyneuropathy|postinfectious polyneuritis|Guillain Barré syndrome|acute postinfectious polyneuropathy|acute inflammatory neuropathy|Guillain Barre syndrome|post-infective polyneuritis|acute autoimmune peripheral neuropathy|acute immune-mediated polyneuropathy|Guillain-Barré syndrome|Landry's ascending paralysis|post-infectious polyneuritis|Guillain-Barré-Strohl syndrome Orphanet:2103|NCIT:C116345|DOID:12842|MedDRA:10018767|UMLS:C0018378|SCTID:40956001|ICD10:G61.0|GARD:0006554|EFO:0007292|MESH:D020275 owl:Class ECTO:9001711 biolink:NamedThing exposure to antiinfective agent An exposure to antiinfective agent. tmpaxzxjjyw_mondo_relaxed.owl exposure to antiinfective agent owl:Class MONDO:0015745 biolink:NamedThing microcephaly-polymicrogyria-corpus callosum agenesis syndrome Microcephaly-polymicrogyria-corpus callosum agenesis syndrome is a rare, genetic, central nervous system malformation syndrome characterized by marked prenatal-onset microcephaly, severe motor delay with hypotonia, bilateral polymicrogyria, corpus callosum agenesis, ventricular dilation, small cerebellum and early lethality. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200295|ICD10:Q04.3|Orphanet:171703 owl:Class GO:0010556 biolink:NamedThing regulation of macromolecule biosynthetic process Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008086 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 1A An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1. tmpaxzxjjyw_mondo_relaxed.owl HSN 1A|neuropathy, hereditary sensory radicular, autosomal dominant, type 1A|SPTLC1 hereditary sensory and autonomic neuropathy type 1|hereditary sensory and autonomic neuropathy type IA|neuropathy, hereditary sensory and autonomic, type IA|hereditary sensory and autonomic neuropathy type 1A|HSAN 1A|neuropathy, hereditary sensory, type 1A|hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1|HSAN1A DOID:0070152|OMIM:162400|Orphanet:36386|GARD:0004798 Mechanism: The mutations alter amino acid selectivity of the serine palmitoyltransferase enzyme, leading to condensation of palmitate with alanine and glycine, in addition to serine, and resulting in the accumulation of two atypical neurotoxic deoxysphingoid bases (Penno et al. 2010). owl:Class MONDO:0018213 biolink:NamedThing hereditary sensory and autonomic neuropathy type 1 Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. tmpaxzxjjyw_mondo_relaxed.owl HSAN1|hereditary sensory and autonomic neuropathy type I|HSAN 1|neuropathy hereditary sensory and autonomic type 1|hereditary sensory neuropathy type 1|HSN1|neuropathy hereditary sensory radicular, autosomal dominant DOID:0070162|OMIM:162400|Orphanet:36386|SCTID:397734008|ICD10:G60.8|GARD:6635|OMIM:613708|OMIM:613640|PMID:18348718|OMIM:615632|GARD:0006635 owl:Class MONDO:0009028 biolink:NamedThing Crane-Heise syndrome Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles. tmpaxzxjjyw_mondo_relaxed.owl Crane-Heise syndrome|cleft Lip/palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus GARD:0008428|SCTID:715991005|UMLS:C1857532|OMIM:218090|ICD10:Q87.5|Orphanet:1512|MESH:C536452 https://rarediseases.info.nih.gov/diseases/8428/crane-heise-syndrome owl:Class MONDO:0012771 biolink:NamedThing asthma-related traits, susceptibility to, 7 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the CHI3L1 gene. tmpaxzxjjyw_mondo_relaxed.owl asthma-related traits, susceptibility to, type 7|CHI3L1 inherited susceptibility to asthma|inherited susceptibility to asthma caused by mutation in CHI3L1|asthma-RELATED traits, susceptibility to, 7|ASRT7|asthma-related traits, susceptibility to, 7 OMIM:611960 owl:Class MONDO:0010940 biolink:NamedThing inherited susceptibility to asthma tmpaxzxjjyw_mondo_relaxed.owl asthma, susceptibility to|asthma, diminished response to Antileukotriene treatment 1N|asthma-related traits, susceptibility to|asthma, bronchial|asthma, protection against OMIM:600807 owl:Class MONDO:0009572 biolink:NamedThing autosomal recessive familial Mediterranean fever Autosomal recessive form of familial Mediterranean fever. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive familial Mediterranean fever|familial Mediterranean fever, autosomal recessive|polyserositis, recurrent|familial MEDITERRANEAN FEVER|FMF|polyserositis, familial paroxysmal|familial Mediterranean fever UMLS:C0031069|OMIM:249100|Orphanet:342 owl:Class MONDO:0018088 biolink:NamedThing familial Mediterranean fever Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles. tmpaxzxjjyw_mondo_relaxed.owl FMF|benign recurrent polyserositis|benign paroxysmal peritonitis|periodic disease|familial paroxysmal polyserositis OMIM:134610|DOID:2987|SCTID:12579009|OMIM:249100|UMLS:C0031069|ICD9:277.31|GARD:0006421|MedDRA:10016207|NCIT:C84707|MESH:D010505|ICD10:E85.0|Orphanet:342 owl:Class MONDO:0014150 biolink:NamedThing developmental and epileptic encephalopathy 94 An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl childhood-onset epileptic encephalopathy|CHCHD10-related disorders|EEOC|developmental and epileptic encephalopathy 94|CHD2 myoclonic encephalopathy|DEE94|childhood onset epileptic encephalopathy|epileptic encephalopathy, childhood-onset DOID:0060475|OMIM:615369|Orphanet:1942|GARD:0013197|Orphanet:2382|UMLS:C3809278 owl:Class MONDO:0700037 biolink:NamedThing testicular fibrothecoma A rare testicular sex cord-stromal neoplasm characterized by mixed features of both fibroma and thecoma. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0700036 biolink:NamedThing fibrothecoma A sex cord-stromal tumor characterized by mixed features of both fibroma and thecoma. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class GO:0019239 biolink:NamedThing deaminase activity Catalysis of the removal of an amino group from a substrate, producing a substituted or nonsubstituted ammonia (NH3/NH2R). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016787 biolink:NamedThing hydrolase activity Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11572 biolink:NamedThing Orthobunyavirus tmpaxzxjjyw_mondo_relaxed.owl Bunyavirus|Bunyaviruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1980416 biolink:NamedThing Peribunyaviridae tmpaxzxjjyw_mondo_relaxed.owl Bunyaviridae GC_ID:1 NCBITaxon:11571 ncbi_taxonomy owl:Class CL:0000680 biolink:NamedThing muscle precursor cell A non-terminally differentiated cell that is capable of developing into a muscle cell. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class UBERON:0001424 biolink:NamedThing ulna tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003607 biolink:NamedThing forelimb long bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021075 biolink:NamedThing neoplastic polyp tmpaxzxjjyw_mondo_relaxed.owl neoplastic polyp NCIT:C7068|UMLS:C1334941 owl:Class MONDO:0012290 biolink:NamedThing CEDNIK syndrome CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. tmpaxzxjjyw_mondo_relaxed.owl cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|CEDNIK syndrome|cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome|cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome ICD10:Q82.8|SCTID:722385008|OMIM:609528|Orphanet:66631|MESH:C537943|DOID:0060337|UMLS:C1836033|GARD:0009940 owl:Class GO:0098643 biolink:NamedThing banded collagen fibril A supramolecular assembly of fibrillar collagen complexes in the form of a long fiber (fibril) with transverse striations (bands). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0099512 biolink:NamedThing supramolecular fiber A polymer consisting of an indefinite number of protein or protein complex subunits that have polymerised to form a fiber-shaped structure. tmpaxzxjjyw_mondo_relaxed.owl fibril owl:Class MONDO:0006643 biolink:NamedThing alcoholic cardiomyopathy A dilated cardiomyopathy which is associated with consumption of large amounts of alcohol over a period of years. tmpaxzxjjyw_mondo_relaxed.owl dilated cardiomyopathy secondary to alcohol|alcoholic cardiomyopathy|alcohol-induced heart muscle disease DOID:12935|UMLS:C0007192|ICD9:425.5|EFO:1000801|MedDRA:10001616|MESH:D002310|NCIT:C53653|SCTID:83521008|ICD10:I42.6 owl:Class MONDO:0002824 biolink:NamedThing extrinsic cardiomyopathy A cardiomyopathy that is not due to abnormalities in heart muscle cells. tmpaxzxjjyw_mondo_relaxed.owl secondary cardiomyopathy SCTID:195029002|ICD9:425.8|DOID:3978 owl:Class HGNC:13711 biolink:NamedThing POF1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018326 biolink:NamedThing ilioischiadic foramen tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005744 biolink:NamedThing bone foramen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014617 biolink:NamedThing intellectual disability, autosomal dominant 38 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2|intellectual disability, autosomal dominant 38|autosomal dominant intellectual disability 38|psychomotor retardation, epilepsy, and language disability syndrome|mental retardation, autosomal dominant type 38|mental retardation, autosomal dominant 38|PRELDS|MRD38|autosomal dominant mental retardation 38|intellectual disability, autosomal dominant type 38|autosomal dominant non-syndromic intellectual disability 38|EEF1A2 autosomal dominant non-syndromic intellectual disability DOID:0070068|OMIM:616393|UMLS:C4225343 owl:Class UBERON:0007842 biolink:NamedThing membrane bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005410 biolink:NamedThing cartilaginous otic capsule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003932 biolink:NamedThing cartilage element of chondrocranium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010511 biolink:NamedThing vas deferens, congenital bilateral aplasia of, X-linked tmpaxzxjjyw_mondo_relaxed.owl vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX|CBAVDX|vas deferens, congenital bilateral aplasia of, X-linked OMIM:300985|UMLS:C4310815 owl:Class MONDO:0018801 biolink:NamedThing congenital bilateral absence of vas deferens Congenital bilateral absence of the vas deferens (CBAVD) is a condition leading to male infertility. tmpaxzxjjyw_mondo_relaxed.owl congenital bilateral aplasia of vas deferens|congenital bilateral agenesis of vas deferens OMIM:277180|OMIMPS:277180|ICD10:Q55.4|OMIM:300985|Orphanet:48|GARD:0005461|SCTID:275416002|ICD9:752.89|MedDRA:10010670 owl:Class MONDO:0021674 biolink:NamedThing post-viral disorder A post-infectious disorder that follows viral infection but is distinct from the viral infection itself and its usual manifestations. tmpaxzxjjyw_mondo_relaxed.owl sequela of viral disease SCTID:123948009|ICD9:139.8 https://github.com/monarch-initiative/mondo/issues/2950 owl:Class MONDO:0013293 biolink:NamedThing isolated microphthalmia 6 Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene. tmpaxzxjjyw_mondo_relaxed.owl isolated microphthalmia caused by mutation in PRSS56|MCOP6|microphthalmia, isolated 6|isolated microphthalmia type 6|microphthalmia, posterior nonsyndromic|PRSS56 isolated microphthalmia|microphthalmia, isolated type 6|posterior nonsyndromic microphthalmia OMIM:613517|ICD10:Q11.0|UMLS:C3150757|DOID:0060835|Orphanet:2542 owl:Class MONDO:0016764 biolink:NamedThing isolated anophthalmia-microphthalmia syndrome Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. tmpaxzxjjyw_mondo_relaxed.owl MAC spectrum|clinical anophthalmia|microphthalmia-anophthalmia-coloboma spectrum|primitive anophthalmia|isolated anophthalmia - microphthalmia|nonsyndromic anophthalmia-microphthalmia syndrome|isolated pure microphthalmia OMIM:613094|GARD:0012085|OMIM:615113|OMIM:156850|OMIM:613517|OMIM:251600|ICD10:Q11.1|ICD10:Q11.0|OMIM:611038|UMLS:CN202019|OMIM:613704|ICD10:Q11.2|Orphanet:2542|OMIM:610093 owl:Class GO:0032353 biolink:NamedThing negative regulation of hormone biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. tmpaxzxjjyw_mondo_relaxed.owl inhibition of hormone biosynthetic process|downregulation of hormone biosynthetic process|down-regulation of hormone biosynthetic process|down regulation of hormone biosynthetic process owl:Class MONDO:0008276 biolink:NamedThing generalized juvenile polyposis/juvenile polyposis coli tmpaxzxjjyw_mondo_relaxed.owl juvenile polyposis coli|juvenile intestinal polyposis|juvenile polyposis syndrome|juvenile polyposis of stomach|jPS|polyposis, familial, of Entire gastrointestinal tract|polyposis, juvenile intestinal|generalized juvenile polyposis/juvenile polyposis coli DOID:0050787|UMLS:CN204230|OMIM:174900|Orphanet:2929|Orphanet:329971|ICD10:D12.6 owl:Class MONDO:0017380 biolink:NamedThing juvenile polyposis syndrome Juvenile gastrointestinal polyposis (JIP) is a rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract. tmpaxzxjjyw_mondo_relaxed.owl JIP|polyposis familial of entire gastrointestinal tract|juvenile intestinal polyposis|juvenile polyposis syndrome|PJI|polyposis juvenile intestinal|juvenile gastrointestinal polyposis|jPS|juvenile multiple polyps syndrome|juvenile polyposis OMIM:175050|SCTID:9273005|OMIM:612242|Orphanet:2929|UMLS:C0345893|NCIT:C7754|OMIM:174900|ICD10:D12.6|GARD:0003065 https://github.com/monarch-initiative/mondo/issues/3685 owl:Class UBERON:0000004 biolink:NamedThing nose tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005891 biolink:NamedThing coelomic epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019063 biolink:NamedThing vascular anomaly tmpaxzxjjyw_mondo_relaxed.owl vascular anomaly or angioma Orphanet:68419 Editor note: the original ORDO class name is 'vascular anomaly or angioma' but it is implicitly congenital due to its superclasses. TODO revise after https://github.com/Orphanet/ORDO/issues/2 owl:Class MONDO:0032943 biolink:NamedThing neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies tmpaxzxjjyw_mondo_relaxed.owl NEDMACE|NEURODEVELOPMENTAL DISORDER WITH RELATIVE MACROCEPHALY AND WITH OR WITHOUT CARDIAC OR ENDOCRINE ANOMALIES OMIM:618829 owl:Class GO:0010941 biolink:NamedThing regulation of cell death Any process that modulates the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13681 biolink:NamedThing DCHS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013143 biolink:NamedThing hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency tmpaxzxjjyw_mondo_relaxed.owl THPH11|thrombophilia due to elevated histidine-rich glycoprotein|hereditary thrombophilia due to congenital HRG deficiency|thrombophilia due to histidine-rich glycoprotein deficiency MESH:C567737|Orphanet:217467|OMIM:613116|ICD10:D68.5 owl:Class MONDO:0013905 biolink:NamedThing autosomal recessive spinocerebellar ataxia 13 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain. tmpaxzxjjyw_mondo_relaxed.owl GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome|autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency|autosomal recessive spinocerebellar ataxia 13|SCAR13|autosomal recessive spinocerebellar ataxia type 13|spinocerebellar ataxia, autosomal recessive 13|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1|spinocerebellar ataxia, autosomal recessive type 13|autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1|GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome|autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency ICD10:G11.1|Orphanet:324262|Orphanet:363429|OMIM:614831|DOID:0080062|UMLS:C3553816 owl:Class MONDO:0018189 biolink:NamedThing autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G11.1|OMIM:614831|Orphanet:363429|UMLS:CN204693|OMIM:616204 owl:Class MONDO:0016927 biolink:NamedThing partial duplication of chromosome 6 tmpaxzxjjyw_mondo_relaxed.owl partial duplication of chromosome type 6|partial trisomy of chromosome 6 Orphanet:262628|SCTID:726345000 owl:Class MONDO:0014398 biolink:NamedThing combined oxidative phosphorylation defect type 21 Combined oxidative phosphorylation defect type 21 is a rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiency of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency caused by mutation in TARS2|TARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 21|combined oxidative phosphorylation deficiency type 21|COXPD21 UMLS:C4014668|ICD10:E88.8|SCTID:763211004|OMIM:615918|Orphanet:420733|DOID:0111465|EFO:0009032 owl:Class GO:0035306 biolink:NamedThing positive regulation of dephosphorylation Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule. tmpaxzxjjyw_mondo_relaxed.owl upregulation of dephosphorylation|stimulation of dephosphorylation|up-regulation of dephosphorylation|activation of dephosphorylation|up regulation of dephosphorylation owl:Class MONDO:0015260 biolink:NamedThing diphyllobothriasis Bothriocephalosis is a mammalian cosmopolitan intestinal parasitosis. In addition to non-specific digestive problems (nausea, abdominal pain, lack of appetite), bothriocephalosis provokes an anaemia caused by vitamin B12 deficiency that resembles Biermer anaemia (anaemia characterised by abnormally large red blood cells). tmpaxzxjjyw_mondo_relaxed.owl Diphyllobothrium caused disease or disorder|Bothriocephalosis|fish tapeworm|Diphyllobothrium infection|Diphyllobothrium disease or disorder|Diphyllobothrium infectious disease MESH:D004169|SCTID:187151009|NCIT:C128391|EFO:0007238|UMLS:C0012561|DOID:10075|Orphanet:128|ICD9:123.4|ICD10:B70.0|MedDRA:10013029|GARD:0000942 owl:Class MONDO:0042488 biolink:NamedThing Cestode infectious disease Infections with true tapeworms of the helminth subclass Cestoda. tmpaxzxjjyw_mondo_relaxed.owl Raillietiniases|Cestodiasis|Cestodosis|Coenuriases|infections, tapeworm|Dipylidiases|tapeworm infection|tapeworm infections|Raillietiniasis|Cenuriases|infection, tapeworm|Cenuriasis|Bertielliasis|Cestoda disease or disorder|Coenuriasis|Dipylidiasis|cestode infection|disease due to Cestoda|cestode infestation|infection, cestode|Bertielliases|infections, cestode|Cestoda infectious disease|Cestoda caused disease or disorder MESH:D002590|ICD9:123.9|SCTID:86133004|EFO:1001287|ICD9:123.8 owl:Class MONDO:0014505 biolink:NamedThing developmental and epileptic encephalopathy, 27 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene. tmpaxzxjjyw_mondo_relaxed.owl DEE27|early infantile epileptic encephalopathy caused by mutation in GRIN2B|EIEE27|GRIN2B early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 27|epileptic encephalopathy, early infantile, type 27 DOID:0080444|UMLS:C4015316|OMIM:616139|Orphanet:3451 owl:Class MONDO:0009570 biolink:NamedThing McDonough syndrome A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect|McDonough syndrome|intellectual disability, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect GARD:0003424|ICD10:Q87.8|Orphanet:2471|OMIM:248950|SCTID:715441004|UMLS:C0796038|MESH:C538158 https://rarediseases.info.nih.gov/diseases/3424/mcdonough-syndrome owl:Class HGNC:19141 biolink:NamedThing TTBK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008231 biolink:NamedThing Peyronie disease A condition characterized by hardening of the penis due to the formation of fibrous plaques on the dorsolateral aspect of the penis, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both. tmpaxzxjjyw_mondo_relaxed.owl Induratio penis plastica|Peyronie disease|Peyronie's disease|Peyronie's fibromatosis Orphanet:2870|ICD9:607.85|ICD10:N48.6|DOID:8616|OMIM:171000|UMLS:C0030848 owl:Class MONDO:0011512 biolink:NamedThing Brooke-Spiegler syndrome Brooke-Spiegler syndrome (BSS) is an inherited predisposition syndrome presenting with skin appendage tumors, namely cylindromas, spiradenomas and trichoepitheliomas. A minority of patients can also get major and minor salivary glands neoplasms, usually membranous basal cell adenoma. tmpaxzxjjyw_mondo_relaxed.owl BRSS|Bss|CYLD cutaneous syndrome|Spiegler-Brooke syndrome|Brooke-Spiegler syndrome MESH:C536611|OMIM:132700|Orphanet:79493|OMIM:612099|GARD:0010179|DOID:0050693|ICD9:239.2|OMIM:605041|OMIM:601606|SCTID:703531009|UMLS:C1857941 Some consider Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT) as phenotypic variations of a single defect, see PMID:16922728 owl:Class UBERON:0022355 biolink:NamedThing basal layer of endometrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004811 biolink:NamedThing endometrium epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015682 biolink:NamedThing primary peritoneal tumor tmpaxzxjjyw_mondo_relaxed.owl Orphanet:168803|UMLS:CN200180 owl:Class MONDO:0019914 biolink:NamedThing maternal uniparental disomy of chromosome 9 Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpaxzxjjyw_mondo_relaxed.owl maternal uniparental disomy of chromosome type 9|UPD(9)mat ICD10:Q99.8|Orphanet:96183|SCTID:766240006 owl:Class MONDO:0700016 biolink:NamedThing chromosome 9 disorder Chromosomal disorder in which chromosome 9 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0001726 biolink:NamedThing childhood disintegrative disease A pediatric disorder characterized by normal development for at least the first two years of life followed by a severe regression in language, social interaction, bowel or bladder control, and/or motor skills. The affected individual may also exhibit repetitive and stereotyped patterns of behavior similar to autism. tmpaxzxjjyw_mondo_relaxed.owl heller's syndrome|disintegrative psychosis|symbiotic psychosis UMLS:C0236791|SCTID:71961003|DOID:13487|SCTID:61831009|ICD9:299.1|ICD10:F84.3|NCIT:C97164 owl:Class MONDO:0000594 biolink:NamedThing pervasive developmental disorder A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions. tmpaxzxjjyw_mondo_relaxed.owl pervasive development disorders|pervasive development disorder|pervasive child development disorders NCIT:C97179|DOID:0060040|MESH:D002659|ICD9:299.80|SCTID:35919005 owl:Class GO:0031304 biolink:NamedThing intrinsic component of mitochondrial inner membrane The component of the mitochondrial inner membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpaxzxjjyw_mondo_relaxed.owl intrinsic to mitochondrial inner membrane owl:Class GO:0098573 biolink:NamedThing intrinsic component of mitochondrial membrane The component of the mitochondrial membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpaxzxjjyw_mondo_relaxed.owl intrinsic to mitochondrial membrane owl:Class GO:0046034 biolink:NamedThing ATP metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. tmpaxzxjjyw_mondo_relaxed.owl ATP metabolism owl:Class NCBITaxon:2732461 biolink:NamedThing Alsuviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732406 biolink:NamedThing Kitrinoviricota tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0038064 biolink:NamedThing collagen receptor activity Combining with a collagen and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. tmpaxzxjjyw_mondo_relaxed.owl transmembrane collagen receptor activity owl:Class GO:0004888 biolink:NamedThing transmembrane signaling receptor activity Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. tmpaxzxjjyw_mondo_relaxed.owl transmembrane signalling receptor activity|transmembrane receptor activity owl:Class MONDO:0009183 biolink:NamedThing junctional epidermolysis bullosa with pyloric atresia Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract. tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa JUNCTIONALIS with pyloric atresia|JEB-Pa|epidermolysis bullosa, junctional, with pyloric atresia|junctional epidermolysis bullosa - pyloric atresia|junctional epidermolysis bullosa-pyloric atresia syndrome|epidermolysis bullosa with pyloric atresia|epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita|epidermolysis bullosa junctionalis with pyloric atresia|junctional epidermolysis bullosa with pyloric atresia|EB-Pa-ACC|Carmi syndrome|aplasia cutis congenita with gastrointestinal atresia|JEB-PA Orphanet:79403|UMLS:C1856934|MESH:C535377|DOID:0060733|OMIM:226730|ICD10:Q81.8|GARD:0009694 https://rarediseases.info.nih.gov/diseases/9694/junctional-epidermolysis-bullosa-with-pyloric-atresia owl:Class MONDO:0017612 biolink:NamedThing junctional epidermolysis bullosa Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation. tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa, junctional|JEB|congenital junctional epidermolysis bullosa|epidermolysis bullosa atrophicans|epidermolysis bullosa hereditaria letalis|junctional epidermolysis bullosa|EBJ UMLS:C0079301|NCIT:C90598|DOID:3209|SCTID:79855003|Orphanet:305|MESH:D016109|GARD:0002152|SCTID:33662006 https://rarediseases.info.nih.gov/diseases/2152/junctional-epidermolysis-bullosa owl:Class MONDO:0019622 biolink:NamedThing non-specific interstitial pneumonia Idiopathic interstitial pneumonia characterized by chronic inflammation and fibrosis in the interstitial lung tissue. It includes cases that cannot be classified into one of the other types of idiopathic interstitial pneumonia. tmpaxzxjjyw_mondo_relaxed.owl non-specific idiopathic interstitial pneumonia|NSIP|nonspecific interstitial pneumonia SCTID:129452008|Orphanet:91364|NCIT:C35717|DOID:2801|UMLS:C1290344|ICD10:J84.8|ICD9:516.8 owl:Class HGNC:21308 biolink:NamedThing ELOVL5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015469 biolink:NamedThing craniosynostosis Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome. tmpaxzxjjyw_mondo_relaxed.owl premature closure of cranial sutures|CSO|craniosynostosis syndrome UMLS:C0010278|GARD:0006209|OMIM:600775|OMIMPS:123100|ICD10:Q75.0|OMIM:615314|OMIM:123100|OMIM:615529|DOID:2340|OMIM:182212|OMIM:600593|MedDRA:10049889|MESH:D003398|MedDRA:10048907|Orphanet:1531|OMIM:604757|NCIT:C84655|SCTID:57219006 owl:Class MONDO:0020018 biolink:NamedThing cranial malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98038 owl:Class MONDO:0014487 biolink:NamedThing congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful. tmpaxzxjjyw_mondo_relaxed.owl SIFD syndrome|SIFD|sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay UMLS:C4015172|ICD10:D64.0|DOID:0080209|Orphanet:369861|OMIM:616084 owl:Class MONDO:0015132 biolink:NamedThing immunodeficiency predominantly affecting antibody production tmpaxzxjjyw_mondo_relaxed.owl ICD10:D80.6|ICD10:D80.9|ICD10:D80.2|ICD10:D80.4|ICD10:D80.8|ICD10:D80.5|ICD10:D80.7|Orphanet:101977|ICD10:D80.1|ICD10:D80.0|ICD10:D80.3 owl:Class MONDO:0006633 biolink:NamedThing acalculous cholecystitis Inflammation of the gallbladder in the absence of gallstones. tmpaxzxjjyw_mondo_relaxed.owl acute cholecystitis without calculus|cholecystitis without calculus|acute acalculous cholecystitis NCIT:C35578|DOID:2828|EFO:1000790|SCTID:19968009|MESH:D042101|UMLS:C0267842|UMLS:C0267841|MedDRA:10000347 owl:Class MONDO:0003425 biolink:NamedThing ophthalmoplegia Weakness or paralysis of at least one of the muscles controlling the movement of the eye. It results from degeneration of the muscles or the neural pathways involved in the eye movement. Representative disorders causing ophthalmoplegia include ocular myopathies and multiple sclerosis. tmpaxzxjjyw_mondo_relaxed.owl oculomotor paralysis|total ophthalmoplegia ICD9:378.56|NCIT:C79697|MESH:D009886|SCTID:78097002|DOID:539 owl:Class MONDO:0017975 biolink:NamedThing sex chromosome disorder of sex development Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including monosomy; trisomy; and mosaicism. tmpaxzxjjyw_mondo_relaxed.owl Sex chromosome DSD Orphanet:325546|MESH:D058533 owl:Class UBERON:0004381 biolink:NamedThing skeleton of limb tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011582 biolink:NamedThing paired limb/fin skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:91061 biolink:NamedThing Bacilli tmpaxzxjjyw_mondo_relaxed.owl Bacillus/Lactobacillus/Streptococcus group|Firmibacteria GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1239 biolink:NamedThing Firmicutes tmpaxzxjjyw_mondo_relaxed.owl low GC Gram+|Firmacutes|clostridial firmicutes|Bacillota|Bacillus/Clostridium group|Clostridium group firmicutes|Low G+C firmicutes|firmicutes|Bacillaeota|low G+C Gram-positive bacteria GC_ID:11|PMID:15143038|PMID:11034484|PMID:26654112|PMID:29458499|PMID:10555317|PMID:11542017|PMID:25403554 NCBITaxon:31968 ncbi_taxonomy owl:Class MONDO:0007187 biolink:NamedThing nevoid basal cell carcinoma syndrome A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities. tmpaxzxjjyw_mondo_relaxed.owl NBCCS|nevoid basal cell carcinoma syndrome|BCNS|basal cell nevus syndrome|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies|multiple basal cell carcinomas|Gorlin syndrome|nevoid basal cell cancer syndrome|Gorlin-Goltz syndrome MESH:D001478|Orphanet:377|GARD:0007166|SCTID:69408002|DOID:2512|MedDRA:10062804|UMLS:C0004779|NCIT:C2892|ICD10:Q87.8|OMIM:109400 owl:Class UBERON:0004247 biolink:NamedThing bone of dorsum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032892 biolink:NamedThing structural brain anomalies with impaired intellectual development and craniosynostosis tmpaxzxjjyw_mondo_relaxed.owl BAIDCS|STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS OMIM:618736 owl:Class UBERON:0003687 biolink:NamedThing foramen magnum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013685 biolink:NamedThing foramen of skull tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022357 biolink:NamedThing congenital acardia tmpaxzxjjyw_mondo_relaxed.owl congenital absence of the heart|acardia ICD9:759.89|GARD:0009823|SCTID:205834002 Editor note: axiomatize using HPO; check parent class MONDO:0002254 https://rarediseases.info.nih.gov/diseases/9823/acardia owl:Class MONDO:0019512 biolink:NamedThing congenital heart malformation A disease that has its basis in the disruption of heart development. tmpaxzxjjyw_mondo_relaxed.owl heart development disease|disorder of heart development|congenital heart malformation|congenital non-syndromic heart malformation|rare congenital non-syndromic heart malformation OMIM:614980|OMIM:306955|EFO:0005269|Orphanet:88991 owl:Class HGNC:9490 biolink:NamedThing TMPRSS15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017590 biolink:NamedThing carcinoma of the ampulla of vater A carcinoma arising from the ampulla of Vater. The vast majority of cases are adenocarcinomas. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. tmpaxzxjjyw_mondo_relaxed.owl ampulla of Vater cancer|ampulla of Vater carcinoma|hepatopancreatic ampulla carcinoma|ampullary carcinoma|ampullary cancer|carcinoma of ampulla of vater|carcinoma of hepatopancreatic ampulla|Ampulloma|AMPCA UMLS:C0262401|SCTID:254609000|EFO:1000079|ONCOTREE:AMPCA|NCIT:C3908|Orphanet:300557|ICD10:C24.1|DOID:4932|MedDRA:10048853 owl:Class MONDO:0003090 biolink:NamedThing extrahepatic bile duct carcinoma A carcinoma that arises from epithelial cells of the extrahepatic bile duct. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the extrahepatic bile duct|extrahepatic bile duct carcinoma|carcinoma of extrahepatic bile duct|extrahepatic bile duct cancer SCTID:372101000|DOID:4682|NCIT:C3860|UMLS:C0238019 owl:Class PATO:0002072 biolink:NamedThing decreased affinity An affinity which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0002303 biolink:NamedThing decreased object quality A quality of an object that has a value that is decreased compared to normal or average. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020783 biolink:NamedThing capillary malformation-arteriovenous malformation 1 tmpaxzxjjyw_mondo_relaxed.owl CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1|Capillary Malformation-Arteriovenous Malformation|CMAVM1|capillary malformation-arteriovenous malformation 1 OMIM:608354 owl:Class MONDO:0012016 biolink:NamedThing capillary malformation-arteriovenous malformation syndrome This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas. tmpaxzxjjyw_mondo_relaxed.owl CM-AVM syndrome|CM-AVM|capillary malformation-arteriovenous malformation|capillary malformation without arteriovenous malformation|CMAVM SCTID:703533007|OMIM:608354|ICD9:747.69|OMIMPS:608354|MESH:C564254|ICD10:Q27.3|GARD:0011904|Orphanet:137667 https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation-syndrome owl:Class MONDO:0021082 biolink:NamedThing Meckel diverticulum neoplasm A neoplasm involving a Meckel's diverticulum. tmpaxzxjjyw_mondo_relaxed.owl Meckel's diverticulum tumor|Meckel's diverticulum neoplasm (disease)|Meckel's diverticulum neoplasm|tumor of Meckel's diverticulum|neoplasm of Meckel's diverticulum SCTID:126836001|UMLS:C0345839 owl:Class MONDO:0006801 biolink:NamedThing ileal neoplasm A benign or malignant neoplasm that affects the wall of the ileum. Representative examples include adenoma, carcinoma, and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl ileum tumor|tumor of the ileum|neoplasm of the ileum|ileum neoplasm (disease)|tumor of ileum|neoplasm of ileum|ileum neoplasm|ileal tumor UMLS:C0020876|MESH:D007078|SCTID:126835002|NCIT:C3130|DOID:10156|EFO:1000981 MONDO:0021376 owl:Class MONDO:0004272 biolink:NamedThing urinary bladder tuberculosis A tuberculosis that involves the urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl tuberculous cystitis|tuberculosis of bladder|bladder tuberculous|bladder tuberculosis|urinary bladder tuberculosis|tuberculosis of bladder, unspecified examination UMLS:C0152793|DOID:754|SCTID:32268008|ICD9:016.14|ICD10:A18.12|ICD9:016.1|ICD9:016.10 owl:Class GO:0048243 biolink:NamedThing norepinephrine secretion The regulated release of norepinephrine by a cell. Norepinephrine is a catecholamine and it acts as a hormone and as a neurotransmitter of most of the sympathetic nervous system. tmpaxzxjjyw_mondo_relaxed.owl noradrenaline secretion owl:Class GO:2000829 biolink:NamedThing negative regulation of parathyroid hormone secretion Any process that stops, prevents or reduces the frequency, rate or extent of parathyroid hormone secretion. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of parathormone secretion|negative regulation of PTH secretion|negative regulation of parathyrin secretion owl:Class GO:0046888 biolink:NamedThing negative regulation of hormone secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a hormone from a cell. tmpaxzxjjyw_mondo_relaxed.owl downregulation of hormone secretion|inhibition of hormone secretion|down-regulation of hormone secretion|down regulation of hormone secretion owl:Class MONDO:0000127 biolink:NamedThing geleophysic dysplasia Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy''). tmpaxzxjjyw_mondo_relaxed.owl geleophysic dwarfism syndrome|Geleophysic dwarfism OMIM:614185|OMIMPS:231050|ICD9:759.89|DOID:0111724|OMIM:231050|SCTID:28557005|GARD:0002449|Orphanet:2623|MedDRA:10063361|ICD10:Q87.1 owl:Class MONDO:0007175 biolink:NamedThing PR interval, variation 1N tmpaxzxjjyw_mondo_relaxed.owl PR interval, variation type 1N|PR interval, variation IN|Atrioventricular conduction time, variation 1N UMLS:C3152251|OMIM:108980 owl:Class MONDO:0042967 biolink:NamedThing rheumatic disease of mitral valve A rheumatologic disorder that involves the mitral valve. tmpaxzxjjyw_mondo_relaxed.owl rheumatic disease of mitral valve|rheumatologic disorder of mitral valve|mitral valve rheumatologic disorder|rheumatic mitral valve disease|rheumatic mitral valve changes SCTID:83898004|UMLS:C0264765 owl:Class MONDO:0018245 biolink:NamedThing 2p21 microdeletion syndrome without cystinuria 2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria. tmpaxzxjjyw_mondo_relaxed.owl Del(2)(p21) without cystinuria UMLS:CN204807|ICD10:Q93.5|Orphanet:369881 owl:Class MONDO:0018246 biolink:NamedThing homozygous 2p21 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl 2p21 contiguous gene deletion syndrome ICD10:Q93.5|UMLS:CN204808|Orphanet:369886 owl:Class MONDO:0008717 biolink:NamedThing acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal. tmpaxzxjjyw_mondo_relaxed.owl AMDH|acromesomelic dwarfism|acromesomelic dysplasia, Hunter-Thompson type|acromesomelic dysplasia Hunter Thompson type ICD10:Q78.8|GARD:0000506|DOID:0080051|Orphanet:968|OMIM:201250 owl:Class MONDO:0019696 biolink:NamedThing acromesomelic dysplasia Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type tmpaxzxjjyw_mondo_relaxed.owl acromesomelic dwarfism GARD:0000006|MESH:C535658|DOID:0080049|Orphanet:93437|OMIM:602875 owl:Class MONDO:0044884 biolink:NamedThing tonsillar lymphoma A primary lymphoma that affects the tonsil and the bulk of the tumor is in this anatomic area. The majority of cases are B-cell non-Hodgkin lymphomas. tmpaxzxjjyw_mondo_relaxed.owl tonsillar lymphoma|lymphoma of tonsil|lymphoma of the tonsil|tonsil lymphoma|Primary tonsillar lymphoma NCIT:C5918|UMLS:C1336765 owl:Class MONDO:0007650 biolink:NamedThing MALT lymphoma An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl mucosa-associated lymphatic tissue lymphoma|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT-lymphoma)|MALT-lymphoma|familial primary gastric lymphoma|MALToma|Immunocytoma|lymphoma of mucosa-associated lymphoid tissue|Extranodal marginal zone B-cell lymphoma|lymphoma, mucosa-associated lymphoid type|extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma)|mucosa-associated lymphoid tissue lymphoma|MALT lymphoma|Extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|gastric lymphoma, primary|Extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue UMLS:C1850900|Orphanet:52417|DOID:0050909|UMLS:C0242647|ICD9:202.80|EFO:0000191|ICD10:C88.4|OMIM:137245|GARD:0006485|NCIT:C3898|Wikipedia:MALT_lymphoma|SCTID:277622004|MedDRA:10060707|ONCOTREE:EMALT|ICDO:9699/3 owl:Class MONDO:0002448 biolink:NamedThing laryngeal sarcoma A rare malignant soft tissue neoplasm that arises from the larynx. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of the larynx|sarcoma of larynx|larynx sarcoma|laryngeal sarcoma UMLS:C1334377|NCIT:C6020|DOID:2877 owl:Class MONDO:0015433 biolink:NamedThing ring chromosome 17 Ring chromosome 17 syndrome is a rare chromosomal anomaly syndrome, resulting from partial deletion of chromosome 17, characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region. tmpaxzxjjyw_mondo_relaxed.owl R17|Ring chromosome type 17|Ring 17|Ring chromosome 17 syndrome|chromosome 17 ring ICD10:Q93.2|GARD:0004724|Orphanet:1441|MESH:C538046 https://rarediseases.info.nih.gov/diseases/4724/ring-chromosome-17 owl:Class MONDO:0020583 biolink:NamedThing chromosome 17 disorder Chromosomal disorder in which chromosome 17 is affected. tmpaxzxjjyw_mondo_relaxed.owl chromosome 17 abnormality NCIT:C129438 owl:Class MONDO:0100238 biolink:NamedThing inherited Fanconi renotubular syndrome An instance of Fanconi renotubular syndrome that is inherited. tmpaxzxjjyw_mondo_relaxed.owl hereditary Fanconi renotubular syndrome OMIM:613388|OMIMPS:134600|OMIM:134600|OMIM:615605 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0009405 biolink:NamedThing cervical hypertrichosis-peripheral neuropathy syndrome Cervical hypertrichosis peripheral neuropathy is a rare syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. It has been described in three members of the same family and in one unrelated boy. Associated features in the familial cases include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, while that in the non-familial case includes developmental delay. An autosomal recessive mode of inheritance is suggested. There have been no further descriptions in the literature since 1993. tmpaxzxjjyw_mondo_relaxed.owl cervical hypertrichosis peripheral neuropathy|hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy Orphanet:2218|OMIM:239840|UMLS:C2931676|GARD:0001226|MESH:C565492|UMLS:C1855902 https://rarediseases.info.nih.gov/diseases/1226/cervical-hypertrichosis-peripheral-neuropathy owl:Class MONDO:0030046 biolink:NamedThing neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY|NEDBASS|neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity OMIM:618890 owl:Class UBERON:0011592 biolink:NamedThing future upper lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023305 biolink:NamedThing heavy metal poisoning Heavy metal poisoning refers to when excessive exposure to a heavy metal affects the normal function of the body. Examples of heavy metals that can cause toxicity include lead, mercury, arsenic, cadmium, and chromium. Exposure may occur through the diet, from medications, from the environment, or in the course of work or play. Heavy metals can enter the body through the skin, or by inhalation or ingestion. Toxicity can result from sudden, severe exposure, or from chronic exposure over time. Symptoms can vary depending on the metal involved, the amount absorbed, and the age of the person exposed. For example, young children are more susceptible to the effects of lead exposure because they absorb more compared with adults and their brains are still developing. Nausea, vomiting, diarrhea, and abdominal pain are common symptoms of acute metal ingestion. Chronic exposure may cause various symptoms resulting from damage to body organs, and may increase the risk of cancer. Treatment depends on the circumstances of the exposure. tmpaxzxjjyw_mondo_relaxed.owl heavy metal poisoning|heavy metal toxicosis|chronic heavy metal poisoning|heavy metal toxicity|toxic effect of heavy metal SCTID:85866007|MESH:C535854|ICD9:985.8|GARD:0006577|EFO:1001518 https://rarediseases.info.nih.gov/diseases/6577/heavy-metal-poisoning owl:Class MONDO:0032844 biolink:NamedThing infantile liver failure syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl ILFS3|INFANTILE LIVER FAILURE SYNDROME 3 OMIM:618641 owl:Class MONDO:0000023 biolink:NamedThing infantile liver failure tmpaxzxjjyw_mondo_relaxed.owl liver failure, infantile|fever-associated acute infantile liver failure syndrome|infantile liver failure syndrome OMIMPS:615438|Orphanet:464724|UMLS:CN228161 OMIM series 615438. Plus one non-syndrome. OMIM series covers only syndromes but I left off "syndrome" from the series name (smb). owl:Class MONDO:0011024 biolink:NamedThing dermatitis herpetiformis, familial Dermatitis herpetiformis is a rare, chronic, skin disorder characterized by groups of severely itchy blisters and raised skin lesions. These are more common on the knees, elbows, buttocks and shoulder blades. The slow onset of symptoms usually begins during adulthood, but children can also be affected. Other symptoms mayinclude fluid-filled sores; red lesions that resemble hives; and itchiness, rednessand burning. The exact cause of this disease is not known,but it is frequently associated with the inability to digest gluten. People with this disease are typically treated with the drug dapsone. tmpaxzxjjyw_mondo_relaxed.owl Duhring's disease|DH|Duhring Brocq disease|dermatitis herpetiformis, familial|Brocq-Duhring disease|hereditary dermatitis herpetiformis Orphanet:1656|MESH:C538218|OMIM:601230|GARD:0001917|UMLS:C1832586|UMLS:C0011608 https://rarediseases.info.nih.gov/diseases/1917/dermatitis-herpetiformis owl:Class HP:0040006 biolink:NamedThing Mortality/Aging tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4022499 HPO:skoehler human_phenotype owl:Class HP:0031797 biolink:NamedThing Clinical course The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. tmpaxzxjjyw_mondo_relaxed.owl Natural history of disease 2018-02-25 14:55:46+00:00 peter human_phenotype owl:Class HGNC:4580 biolink:NamedThing GRIK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050433 biolink:NamedThing regulation of catecholamine secretion Any process that modulates the frequency, rate or extent of the regulated release of catecholamines. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051953 biolink:NamedThing negative regulation of amine transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of amine transport|downregulation of amine transport|down regulation of amine transport|inhibition of amine transport owl:Class MONDO:0012912 biolink:NamedThing pseudopseudohypoparathyroidism Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP). tmpaxzxjjyw_mondo_relaxed.owl Albright hereditary osteodystrophy-PPHP syndrome|pseudopseudohypoparathyroidism|aho-PPHP syndrome|pseudo-pseudohypoparathyroidism|Normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]|Pseudopseudo-hypoparathyroidism|Albright Hereditary osteodystrophy with Multiple hormone Resistance|Albright hereditary osteodystrophy without multiple hormone resistance|PPHP|Normocalcemic pseudohypoparathyroidism GARD:0007860|MESH:D011556|Orphanet:79445|DOID:4183|NCIT:C129722|OMIM:612463|SCTID:237659007|UMLS:C0033835|Orphanet:665|ICD10:E20.1|ICD9:275.49 https://rarediseases.info.nih.gov/diseases/7860/pseudopseudohypoparathyroidism owl:Class MONDO:0021154 biolink:NamedThing dermis disorder A disease that involves the dermis. tmpaxzxjjyw_mondo_relaxed.owl other dermis disorder|disease or disorder of dermis|disease of dermis|dermis disease or disorder|disorder of dermis|dermis disease Orphanet:79381|UMLS:CN227618 owl:Class UBERON:0006670 biolink:NamedThing central tendon of diaphragm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003570 biolink:NamedThing respiratory system connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024508 biolink:NamedThing epilepsy, hot water, 1 tmpaxzxjjyw_mondo_relaxed.owl bathing epilepsy|HWE1|water immersion epilepsy|epilepsy, hot water, 1 Orphanet:166412|UMLS:C0393729|OMIM:613339 owl:Class MONDO:0013229 biolink:NamedThing hot water reflex epilepsy Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases. tmpaxzxjjyw_mondo_relaxed.owl hot water epilepsy|water immersion epilepsy|epilepsy, hot water|bathing epilepsy ICD9:345.10|Orphanet:166412|OMIMPS:613339|OMIM:613340|UMLS:C0393729|OMIM:613339|ICD10:G40.8|UMLS:CN200053|SCTID:230454005 Editor note: TODO add ECTO owl:Class UBERON:0003701 biolink:NamedThing calcaneal tendon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000043 biolink:NamedThing tendon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019196 biolink:NamedThing iliac artery endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001917 biolink:NamedThing endothelium of artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0025261 biolink:NamedThing thalamic fiber tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011591 biolink:NamedThing tract of diencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002341 biolink:NamedThing epithelium of segmental bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000115 biolink:NamedThing lung epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003477 biolink:NamedThing vein of upper lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013136 biolink:NamedThing vein of lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017709 biolink:NamedThing disorder of lipid absorption and transport tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227181|Orphanet:309028 owl:Class MONDO:0001911 biolink:NamedThing tracheal calcification Abnormal deposits of calcium in the tracheal tissue. tmpaxzxjjyw_mondo_relaxed.owl calcification of trachea SCTID:81089005|ICD9:519.19|DOID:14224|NCIT:C35314|HP:0002787|UMLS:C0264324 Editor note: consider ceding to HPO owl:Class MONDO:0002567 biolink:NamedThing tracheal disorder A non-neoplastic or neoplastic disorder that affects the trachea. Representative examples of non-neoplastic disorders include congenital malformations and infection. Representative examples of neoplastic disorders include carcinoma and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl tracheal disorder|disorder of trachea|trachea disease|disease of trachea|trachea disease or disorder|disease or disorder of trachea MESH:D014133|DOID:3225|ICD10:S12.8|SCTID:47125007|NCIT:C35079|UMLS:C0040580 owl:Class MONDO:0018089 biolink:NamedThing double outlet right ventricle Double outlet right ventricle (DORV) is a rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle. tmpaxzxjjyw_mondo_relaxed.owl DORV|Dextrotransposition of aorta|double outlet right ventricle NCIT:C98916|MedDRA:10013611|ICD10:Q20.1|UMLS:C0013069|DOID:6406|MESH:D004310|OMIM:217095|GARD:0001908|SCTID:204299009|Orphanet:3426 owl:Class MONDO:0024530 biolink:NamedThing Bethlem myopathy 1 tmpaxzxjjyw_mondo_relaxed.owl Bethlem myopathy|Bethlem myopathy 1|myopathy, benign congenital, with contractures|BTHLM1|muscular dystrophy, benign congenital Orphanet:610|UMLS:CN029274|OMIM:158810|UMLS:C1834674 owl:Class MONDO:0008029 biolink:NamedThing Bethlem myopathy A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles. tmpaxzxjjyw_mondo_relaxed.owl BTHLM1|Bethlem myopathy 1|benign autosomal dominant myopathy|Bethlem myopathy type 1|benign congenital muscular dystrophy OMIMPS:158810|NCIT:C126688|Orphanet:610|ICD10:G71.0|MESH:C535436|GARD:0000873|SCTID:718572004|DOID:0050663|OMIM:158810|UMLS:C1834674|OMIM:616471 Editor note: consider separating type 1 form owl:Class HGNC:9936 biolink:NamedThing OPN1LW tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001184 biolink:NamedThing chronic rapidly progressive glomerulonephritis Chronic form of rapidly progressive glomerulonephritis. tmpaxzxjjyw_mondo_relaxed.owl chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis|rapidly progressive glomerulonephritis, chronic DOID:11036|SCTID:197614002|UMLS:C0341694|ICD9:582.4 owl:Class MONDO:0017236 biolink:NamedThing rapidly progressive glomerulonephritis Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus. tmpaxzxjjyw_mondo_relaxed.owl crescentic glomerulonephritis|RPGN Orphanet:280569|MedDRA:10018378|ICD9:583.4|ICD9:580.4|UMLS:C0221239|DOID:4776|NCIT:C35264|SCTID:236392004|ICD10:N01|ICD9:582.4 owl:Class UBERON:0012240 biolink:NamedThing urethral meatus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000161 biolink:NamedThing orifice tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048608 biolink:NamedThing reproductive structure development The reproductive developmental process whose specific outcome is the progression of somatic structures that will be used in the process of creating new individuals from one or more parents, from their formation to the mature structures. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018847 biolink:NamedThing omphalomesenteric cyst tmpaxzxjjyw_mondo_relaxed.owl Orphanet:490|GARD:0004081|SCTID:80880002|ICD10:Q43.0 https://rarediseases.info.nih.gov/diseases/4081/omphalomesenteric-cyst owl:Class MONDO:0015215 biolink:NamedThing non-syndromic diaphragmatic or abdominal wall malformation A diaphragmatic or abdominal wall malformation that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic diaphragmatic or abdominal wall malformation|isolated diaphragmatic or abdominal wall malformation Orphanet:108977 owl:Class MONDO:0006771 biolink:NamedThing glossitis Inflammation of the tongue. tmpaxzxjjyw_mondo_relaxed.owl tongue inflammation|inflammation of tongue ICD10:K14.0|NCIT:C112199|MedDRA:10018386|SCTID:45534005|MESH:D005928|EFO:1000951|DOID:1456|ICD9:529.0|UMLS:C0017675 owl:Class MONDO:0001165 biolink:NamedThing tongue disorder A disease involving the tongue. tmpaxzxjjyw_mondo_relaxed.owl tongue disease|disease or disorder of tongue|disease of tongue|tongue disease or disorder|disorder of tongue ICD9:529.9|SCTID:69244009|ICD9:529.8|DOID:10944|UMLS:C0040409|ICD10:K14.9|ICD10:K14|MESH:D014060 owl:Class MONDO:0019236 biolink:NamedThing inborn disorder of purine metabolism An acquired metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of purine metabolism|inborn purine nucleobase metabolic process disorder|rare inborn error of purine nucleobase metabolic process|inborn error of purine nucleobase metabolic process MedDRA:10061476|Orphanet:79191 owl:Class MONDO:0037829 biolink:NamedThing purine metabolism disease A disease that has its basis in the disruption of purine nucleobase metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of purine nucleobase metabolic process|purine nucleobase metabolic process disease|disorder of purine metabolism SCTID:32612005|UMLS:C0268104 owl:Class MONDO:0008483 biolink:NamedThing stuttering, familial persistent, 1 tmpaxzxjjyw_mondo_relaxed.owl STUT1|stammering|stuttering, familial persistent, 1 OMIM:184450 owl:Class HP:0008609 biolink:NamedThing Morphological abnormality of the middle ear An abnormality of the morphology or structure of the middle ear. tmpaxzxjjyw_mondo_relaxed.owl Morphological abnormality of the middle ear|Middle ear malformation UMLS:C1857456 human_phenotype owl:Class HP:0000370 biolink:NamedThing Abnormality of the middle ear An abnormality of the middle ear. tmpaxzxjjyw_mondo_relaxed.owl Middle ear abnormalities|Middle ear abnormality UMLS:C1861141 human_phenotype owl:Class MONDO:0008901 biolink:NamedThing Tel Hashomer camptodactyly syndrome Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. tmpaxzxjjyw_mondo_relaxed.owl camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases|Tel Hashomer camptodactyly syndrome Orphanet:3292|MESH:C536953|GARD:0005128|OMIM:211960|UMLS:C1859356|ICD10:Q74.0|SCTID:719946008 https://rarediseases.info.nih.gov/diseases/5128/tel-hashomer-camptodactyly-syndrome owl:Class MONDO:0020120 biolink:NamedThing skeletal muscle disorder A disease involving the skeletal muscle tissue. tmpaxzxjjyw_mondo_relaxed.owl skeletal muscle tissue disease or disorder|disorder of skeletal muscle tissue|skeletal muscle tissue disease|disease or disorder of skeletal muscle tissue|disease of skeletal muscle tissue UMLS:C1533847|Orphanet:98472|SCTID:75047002|MedDRA:10028641 owl:Class MONDO:0012384 biolink:NamedThing panic disorder 3 tmpaxzxjjyw_mondo_relaxed.owl panic disorder susceptibility locus, chromosome 4Q-related|panic disorder type 3|Pand3|panic disorder 3 UMLS:C1864946|OMIM:609985 owl:Class HGNC:2689 biolink:NamedThing DBH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002318 biolink:NamedThing trachea leiomyoma A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl tracheal leiomyoma|tracheal neoplasm|leiomyoma of trachea|trachea leiomyoma|leiomyoma of the trachea|tracheal tumor|trachea neoplasm SCTID:126703006|UMLS:C1336772|NCIT:C3419|NCIT:C6049|DOID:248 owl:Class MONDO:0021517 biolink:NamedThing benign neoplasm of trachea A benign neoplasm that involves the trachea. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the trachea|benign trachea neoplasm|benign tumor of trachea|benign tracheal tumor|benign tracheal neoplasm|benign trachea tumor|benign tumor of the trachea|trachea benign neoplasm ICD10:D14.2|UMLS:C0153953|ICD9:212.2|NCIT:C3602|SCTID:92446002 owl:Class MONDO:0020866 biolink:NamedThing nasopharyngeal diphtheria Infection of the nasopharynx by Corynebacterium diphtheriae. tmpaxzxjjyw_mondo_relaxed.owl Nasopharyngeal diphtheria|Nasopharyngeal Diphtheria|nasopharyngeal diphtheria SCTID:75589004|UMLS:C0012558|NCIT:C34547|ICD9:032.1 owl:Class MONDO:0003995 biolink:NamedThing vulvar childhood botryoid-type embryonal rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma occurring in female children. The neoplasm arises from the vulva. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. tmpaxzxjjyw_mondo_relaxed.owl mammalian vulva childhood botryoid rhabdomyosarcoma|childhood botryoid rhabdomyosarcoma of mammalian vulva|vulvar childhood botryoid-type embryonal rhabdomyosarcoma|childhood sarcoma Botryoides of the vulva|childhood botryoid-type embryonal rhabdomyosarcoma of the vulva UMLS:C1332946|DOID:6789|NCIT:C36098 owl:Class MONDO:0003992 biolink:NamedThing childhood botryoid rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma occurring in children. The tumor arises from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. tmpaxzxjjyw_mondo_relaxed.owl pediatric botryoid rhabdomyosarcoma|childhood sarcoma Botryoides|botryoid rhabdomyosarcoma of childhood|childhood botryoid-type embryonal rhabdomyosarcoma|botryoid-type embryonal rhabdomyosarcoma NCIT:C35574|DOID:6786|UMLS:C1332944 owl:Class MONDO:0016700 biolink:NamedThing anaplastic ependymoma Anaplastic ependymoma is a rare, malignant type of ependymoma that most often arises in the supratentorial region of the brain of children and young adults and that manifests with variable symptoms including headaches, nausea, vision impairment, memory loss and difficulty walking. tmpaxzxjjyw_mondo_relaxed.owl undifferentiated ependymal neoplasm|high-grade ependymoma|malignant ependymoma|anaplastic ependymal neoplasm|WHO grade III ependymal neoplasm|anaplastic ependymal tumor|WHO grade III ependymal tumor|undifferentiated ependymoma|ependymoma, anaplastic, malignant|anaplastic ependymoma|undifferentiated ependymal tumor ONCOTREE:APE|UMLS:C0280788|ICD10:C71.9|NCIT:C4049|MedDRA:10014968|GARD:0010634|ICDO:9392/3|Orphanet:251646 https://rarediseases.info.nih.gov/diseases/10634/anaplastic-ependymoma owl:Class MONDO:0020633 biolink:NamedThing anaplastic cancer tmpaxzxjjyw_mondo_relaxed.owl anaplastic malignant neoplasm NCIT:C36025|UMLS:C1332287 owl:Class GO:0042127 biolink:NamedThing regulation of cell population proliferation Any process that modulates the frequency, rate or extent of cell proliferation. tmpaxzxjjyw_mondo_relaxed.owl regulation of cell proliferation owl:Class MONDO:0018750 biolink:NamedThing class I glucose-6-phosphate dehydrogenase deficiency tmpaxzxjjyw_mondo_relaxed.owl hemolytic anemia due to G6PD deficiency|severe hemolytic anemia due to G6PD deficiency|Class I G6PD deficiency 2022-03-01 Orphanet:466026|OMIM:300908 Reason: duplicate. This will be merged with MONDO:0010480 owl:Class MONDO:0009953 biolink:NamedThing leukocyte adhesion deficiency type II Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl congenital disorder of glycosylation, type IIc|CDG2C|leukocyte adhesion deficiency, type II|CDGIIc|sialyl-Lewis X defect|CDG-IIc|leukocyte adhesion deficiency, type 2|leukocyte adhesion deficiency type II|CDG IIc|SLC35C1-CDG|lad-II|lad-type II|Rambam-Hasharon syndrome|LAD2|CDG 2C|congenital disorder of glycosylation type IIC|RHS|SLC35C1-CDG (CDG-IIc)|leukocyte adhesion deficiency type 2|CDG syndrome type IIc MESH:C535755|SCTID:234583001|GARD:0004634|Orphanet:2968|ICD10:D84.8|UMLS:C0398739|OMIM:266265|NCIT:C4690|Orphanet:99843|DOID:0070255|GARD:4634 owl:Class GO:1902093 biolink:NamedThing positive regulation of flagellated sperm motility Any process that activates or increases the frequency, rate or extent of flagellated sperm motility. tmpaxzxjjyw_mondo_relaxed.owl activation of sperm movement|up regulation of sperm motility|activation of sperm motility|positive regulation of sperm movement|upregulation of sperm movement|up regulation of sperm movement|up-regulation of sperm motility|upregulation of sperm motility|up-regulation of sperm movement|positive regulation of sperm motility owl:Class MONDO:0019334 biolink:NamedThing autosomal recessive hyperinsulinism due to Kir6.2 deficiency tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency UMLS:CN206003|OMIM:601820|ICD10:E16.1|Orphanet:79644 owl:Class MONDO:0015625 biolink:NamedThing diazoxide-resistant diffuse hyperinsulinism Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy. tmpaxzxjjyw_mondo_relaxed.owl hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form Orphanet:165988|ICD10:E16.1 owl:Class HGNC:6848 biolink:NamedThing MAP3K1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048771 biolink:NamedThing tissue remodeling The reorganization or renovation of existing tissues. This process can either change the characteristics of a tissue such as in blood vessel remodeling, or result in the dynamic equilibrium of a tissue such as in bone remodeling. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003963 biolink:NamedThing otic ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001701 biolink:NamedThing glossopharyngeal ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903315 biolink:NamedThing negative regulation of nitrogen cycle metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of nitrogen cycle metabolic process. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of nitrogen cycle metabolic process|downregulation of nitrogen cycle metabolic process|inhibition of nitrogen cycle metabolic process|down regulation of nitrogen cycle metabolic process owl:Class GO:1903314 biolink:NamedThing regulation of nitrogen cycle metabolic process Any process that modulates the frequency, rate or extent of nitrogen cycle metabolic process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023091 biolink:NamedThing esophageal atresia coloboma talipes tmpaxzxjjyw_mondo_relaxed.owl GARD:0002196 https://rarediseases.info.nih.gov/diseases/2196/esophageal-atresia-coloboma-talipes owl:Class GO:0034755 biolink:NamedThing iron ion transmembrane transport A process in which an iron ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl ferrous iron transmembrane transport|low affinity iron ion transport|high-affinity iron ion transmembrane transport|high affinity ferrous ion transmembrane transport|low-affinity iron ion transmembrane transport|iron ion membrane transport|low-affinity iron ion transport|ferrous ion transmembrane transport|high-affinity iron ion transport|iron(2+) transmembrane transport|high affinity iron ion transport|high-affinity ferrous ion transmembrane transport|transmembrane iron transport owl:Class GO:0006826 biolink:NamedThing iron ion transport The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl ferric ion import|ferric iron uptake|iron transport|ferric ion transport|ferrous ion transport|ferrous iron transport|iron ion import|ferric iron import|ferric iron transport owl:Class MONDO:0007775 biolink:NamedThing hypersecretion of adrenal androgens, familial tmpaxzxjjyw_mondo_relaxed.owl hypersecretion of adrenal androgens, familial|familial hypersecretion of adrenal androgens OMIM:145295|UMLS:C1840387|GARD:0009593|MESH:C536845 https://rarediseases.info.nih.gov/diseases/9593/familial-hypersecretion-of-adrenal-androgens owl:Class UBERON:0000038 biolink:NamedThing follicular fluid tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000463 biolink:NamedThing organism substance Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body.|Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. tmpaxzxjjyw_mondo_relaxed.owl portion of body substance|body substance|organism substance|body fluid or substance|portion of organism substance owl:Class CL:0002035 biolink:NamedThing Slamf1-negative multipotent progenitor cell A hematopoietic progenitor that has restricted self-renewal capability. Cell is Kit-positive, Ly6-positive, CD150-negative and Flt3-negative. tmpaxzxjjyw_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-01-08T11:16:33Z cell owl:Class CL:0000837 biolink:NamedThing hematopoietic multipotent progenitor cell A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans. tmpaxzxjjyw_mondo_relaxed.owl MPP|hemopoietic progenitor cell BTO:0000725|CALOHA:TS-0448 Markers differ between mouse and human. cell owl:Class UBERON:0011390 biolink:NamedThing pudendal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003444 biolink:NamedThing pelvis nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050976 biolink:NamedThing detection of mechanical stimulus involved in sensory perception of touch The series of events involved in the perception of touch in which a mechanical stimulus is received and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl perception of touch, sensory detection of mechanical stimulus|sensory transduction of mechanical stimulus during perception of touch|perception of touch, detection of mechanical stimulus|tactition, sensory detection of mechanical stimulus|sensory detection of mechanical stimulus during perception of touch|perception of touch, sensory transduction of mechanical stimulus owl:Class GO:0050974 biolink:NamedThing detection of mechanical stimulus involved in sensory perception The series of events in which a mechanical stimulus is received and converted into a molecular signal as part of sensory perception. tmpaxzxjjyw_mondo_relaxed.owl sensory transduction of mechanical stimulus|sensory transduction of mechanical stimulus during sensory perception|sensory perception, sensory detection of mechanical stimulus|sensory detection of mechanical stimulus during sensory perception|sensory perception, sensory transduction of mechanical stimulus|sensory detection of mechanical stimulus owl:Class MONDO:0010392 biolink:NamedThing glycogen storage disease due to phosphoglycerate kinase 1 deficiency Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities. tmpaxzxjjyw_mondo_relaxed.owl GSD due to phosphoglycerate kinase 1 deficiency|glycogen storage disease caused by mutation in PGK1|PHOSPHOGLYCERATE KINASE 1 deficiency|PGK deficiency|PGK1 glycogen storage disease|Pgk1 deficiency|glycogenosis due to phosphoglycerate kinase 1 deficiency|Phosphoglycerate kinase deficiency|glycogen storage disease due to phosphoglycerate kinase 1 deficiency GARD:0007389|NCIT:C126738|MESH:C567067|OMIM:300653|Orphanet:713|ICD10:E74.0|UMLS:C1970848 owl:Class MONDO:0003689 biolink:NamedThing familial hemolytic anemia A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies. tmpaxzxjjyw_mondo_relaxed.owl hereditary hemolytic anemia|anemia hemolytic congenital|congenital hemolytic anemia SCTID:42601008|MESH:D000745|DOID:589|ICD9:282|ICD9:282.9|ICD10:D58.9|NCIT:C34379|GARD:0006167 https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia owl:Class MONDO:0011088 biolink:NamedThing congenital myasthenic syndrome 1A Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene. tmpaxzxjjyw_mondo_relaxed.owl myasthenic syndrome, congenital, type IIa|congenital myasthenic syndrome type IIa|Cms IIa, formerly|myasthenic syndrome, congenital, type IIa, formerly|CHRNA1 congenital myasthenic syndrome|congenital myasthenic syndrome caused by mutation in CHRNA1|CMS1A|CMS IIa|congenital myasthenic syndrome 1A, slow-channel|Cms IIa|congenital myasthenic syndrome type 1A|myasthenic syndrome, congenital, 1A, slow-channel DOID:0110663|OMIM:601462|Orphanet:98913|Orphanet:590 owl:Class MONDO:0020344 biolink:NamedThing postsynaptic congenital myasthenic syndrome tmpaxzxjjyw_mondo_relaxed.owl postsynaptic congenital myasthenic syndromes OMIM:254300|OMIM:616325|OMIM:616324|OMIM:616304|OMIM:616314|OMIM:615120|OMIM:616720|OMIM:608931|OMIM:616313|OMIM:616321|OMIM:616326|OMIM:614198|OMIM:616323|ICD10:G70.2|OMIM:601462|Orphanet:98913|OMIM:605809|OMIM:608930|OMIM:616322 owl:Class MONDO:0019982 biolink:NamedThing bilateral multicystic dysplastic kidney Bilateral multicystic dysplastic kidney (MCDK) is a lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional. tmpaxzxjjyw_mondo_relaxed.owl bilateral MCDK|PUJO|bilateral multicystic renal dysplasia|MRD|Pelvi-ureteric junction obstruction Orphanet:97364|ICD10:Q61.4|SCTID:717749002|GARD:0009517|MESH:D021782 owl:Class MONDO:0015988 biolink:NamedThing multicystic dysplastic kidney Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. tmpaxzxjjyw_mondo_relaxed.owl MCDK|multicystic renal dysplasia ICD10:Q61.4|SCTID:204962002|Orphanet:1851|MESH:D021782|NCIT:C123031|ICD9:753.19|UMLS:C3714581 owl:Class GO:0005577 biolink:NamedThing fibrinogen complex A highly soluble, elongated protein complex found in blood plasma and involved in clot formation. It is converted into fibrin monomer by the action of thrombin. In the mouse, fibrinogen is a hexamer, 46 nm long and 9 nm maximal diameter, containing two sets of nonidentical chains (alpha, beta, and gamma) linked together by disulfide bonds. tmpaxzxjjyw_mondo_relaxed.owl fibrinogen alpha chain|fibrinogen beta chain|fibrinogen gamma chain|fibrinogen owl:Class MONDO:0017394 biolink:NamedThing ketamine-induced biliary dilatation Ketamine-induced biliary dilatation is an acquired biliary tract disease caused by the abusive consumption of ketamine, which results in the fusiform dilatation of the common bile ducts (CBD) without obstructive lesions or dilatation of the intrahepatic biliary ducts. Possible manifestations of the underlying cholangiopathy include epigastric pain and impaired liver function. Severity of CBD dilatation appears to correlate with the duration of ketamine consumption and the condition has been reported to be reversible in abstinent patients. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4512018|Orphanet:293807|SCTID:726613003|UMLS:CN227122 owl:Class GO:0016525 biolink:NamedThing negative regulation of angiogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of angiogenesis|inhibition of angiogenesis|downregulation of angiogenesis|down regulation of angiogenesis owl:Class MONDO:0003680 biolink:NamedThing periosteal chondrosarcoma A chondrosarcoma arising from the surface of bone. It is characterized by a lobulated growth pattern, high mitotic activity, myxoid stroma formation, and necrotic changes. It occurs in adults. Clinical presentation includes pain, and sometimes swelling. tmpaxzxjjyw_mondo_relaxed.owl periosteal chondrosarcoma|periosteum chondrosarcoma (disease)|juxtacortical chondrosarcoma (morphologic abnormality)|chondrosarcoma (disease) of periosteum|juxtacortical chondrosarcoma DOID:5859|ICDO:9221/3|UMLS:C0334549|NCIT:C7357|DOID:5866 MONDO:0003683 owl:Class MONDO:0000515 biolink:NamedThing bone chondrosarcoma A chondrosarcoma (disease) that involves the bone tissue. tmpaxzxjjyw_mondo_relaxed.owl bone tissue chondrosarcoma (disease)|chondrosarcoma (disease) of bone tissue DOID:0050897 owl:Class MONDO:0012759 biolink:NamedThing camptodactyly syndrome, Guadalajara type 3 Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age. tmpaxzxjjyw_mondo_relaxed.owl camptodactyly syndrome, Guadalajara, type III|camptodactyly syndrome, Guadalajara, type 3|camptodactyly syndrome Guadalajara type 3 GARD:0010573|OMIM:611929|UMLS:C2677809|MESH:C567455|Orphanet:488434 https://rarediseases.info.nih.gov/diseases/10573/camptodactyly-syndrome-guadalajara-type-3 owl:Class MONDO:0000111 biolink:NamedThing camptodactyly syndrome, Guadalajara tmpaxzxjjyw_mondo_relaxed.owl Text for OMIM 211910 includes 211920 and 611929 as other types. owl:Class MONDO:0004196 biolink:NamedThing rectal sarcomatoid carcinoma A biphasic rectal carcinoma with a spindle cell, sarcomatoid component. tmpaxzxjjyw_mondo_relaxed.owl sarcomatoid carcinoma of the rectum|rectal sarcomatoid cancer|rectal spindle cell carcinoma|rectal sarcomatoid carcinoma|rectum sarcomatoid carcinoma|sarcomatoid carcinoma of rectum NCIT:C5556|DOID:7356|UMLS:C1335689 owl:Class UBERON:0004145 biolink:NamedThing outflow tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005627 biolink:NamedThing head and neck cancer A primary or metastatic malignant neoplasm affecting the head and neck. Representative examples include oral cavity squamous cell carcinoma, laryngeal squamous cell carcinoma, and salivary gland carcinoma. tmpaxzxjjyw_mondo_relaxed.owl head/neck neoplasm|head and neck cancer|malignant craniocervical region neoplasm|cancer of head and neck|malignant neoplasm of the head and neck|malignant tumor of head and neck|malignant neoplasm of craniocervical region|craniocervical region cancer|head and neck neoplasm|malignant tumor of the head and neck|head and neck tumours|malignant head and neck neoplasm|cancer of the head and neck|malignant neoplasm of head and neck|malignant head and neck tumor|cancer of craniocervical region|head and neck malignant neoplasia UMLS:C0278996|DOID:11934|NCIT:C4013|NCIT:C3077|SCTID:255055008|UMLS:C0018671|EFO:0006859 owl:Class UBERON:0000055 biolink:NamedThing vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0700035 biolink:NamedThing monosomy chromosome 8 A chromosomal disorder consisting of the absence of one chromosome 8. tmpaxzxjjyw_mondo_relaxed.owl chromosome 8 deletion|loss of chromosome 8 MESH:C537823|NCIT:C36535 owl:Class MONDO:0700015 biolink:NamedThing chromosome 8 disorder Chromosomal disorder in which chromosome 8 is affected. tmpaxzxjjyw_mondo_relaxed.owl anomaly of chromosome pair 8 SCTID:48082007|UMLS:C0265418 http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:6649 biolink:NamedThing LMOD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CP_0000028 biolink:NamedThing basophilic cytoplasm Cytoplasm that exhibits molecular interaction for basic dyes under specific pH conditions. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2009-12-22T04:24:54Z cell owl:Class GO:0005737 biolink:NamedThing cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008772 biolink:NamedThing proximal epiphysis of tibia tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004380 biolink:NamedThing proximal epiphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031668 biolink:NamedThing cellular response to extracellular stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071496 biolink:NamedThing cellular response to external stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014107 biolink:NamedThing hypogonadotropic hypogonadism 21 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene. tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropic hypogonadism 21 with or without anosmia|FLRT3 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in FLRT3|HH21 Orphanet:478|ICD10:E23.0|OMIM:615271|DOID:0090093|UMLS:C3808986 owl:Class MONDO:0016866 biolink:NamedThing partial deletion of chromosome 1 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 1|partial deletion of chromosome type 1 Orphanet:261766|ICD10:Q93.5 owl:Class MONDO:0015947 biolink:NamedThing inherited ichthyosis Mendelian disorders of cornification affecting all or most of integument characterized by hyperkeratosis and/or scaling, caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl congenital ichthyosis of skin|congenital ichthyosis|genetic ichthyosis|inherited genetic ichthyosis|fish scale disease|hereditary ichthyosis (disease)|ichthyosis congenita|fish skin MedDRA:10021202|SCTID:13059002|ICD9:757.1|Orphanet:183435|ICD10:Q80 https://github.com/monarch-initiative/mondo/issues/4293|https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0033946 biolink:NamedThing hereditary angioedema with C1Inh deficiency Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein. tmpaxzxjjyw_mondo_relaxed.owl angioedema, hereditary, type 1/2|angioedema, hereditary, type I|angioedema, hereditary, type 1|angioedema, hereditary, type 2|HAE1|angioneurotic edema, hereditary|C1 esterase inhibitor, deficiency of Orphanet:528623|UMLS:C0019243|Orphanet:91378|Orphanet:100050|Orphanet:100051|UMLS:C1862892|OMIM:106100 owl:Class MONDO:0027749 biolink:NamedThing serpinopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:250805 owl:Class HGNC:15559 biolink:NamedThing CHCHD10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:46839 biolink:NamedThing Colorado tick fever virus tmpaxzxjjyw_mondo_relaxed.owl CTFV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2748762 biolink:NamedThing Colorado tick fever coltivirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007536 biolink:NamedThing congenital lobar emphysema Congenital lobar emphysema (CLE) is a respiratory abnormality characterized by respiratory distress due to hyperinflation of one or more affected lobes of the lung. tmpaxzxjjyw_mondo_relaxed.owl infantile lobar hyperinflation|CLE|emphysema, congenital lobar|congenital lobar hyperinflation GARD:0002104|UMLS:C0265797|MESH:C535735|MedDRA:10010456|Orphanet:1928|OMIM:130710|NCIT:C98895|ICD10:Q33.8|SCTID:66987001 owl:Class MONDO:0015930 biolink:NamedThing respiratory malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:182111 owl:Class HP:0000532 biolink:NamedThing Abnormal chorioretinal morphology An abnormality of the choroid and retina. tmpaxzxjjyw_mondo_relaxed.owl Chorioretinal abnormality UMLS:C4025844 The choroid is the vascular layer of the eye, located between the retina and the sclera. HP:0001145|HP:0007888 human_phenotype owl:Class HP:0000610 biolink:NamedThing Abnormal choroid morphology Any structural abnormality of the choroid. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the choroid|Choroid disease UMLS:C4025836|MSH:D015862|UMLS:C0008521 HP:0001122 human_phenotype owl:Class MONDO:0100370 biolink:NamedThing acute hepatitis B virus infection A new infection by the hepatitis B virus, which can be transmitted by direct contact of infected blood with mucous membranes or open areas of the skin. Signs and symptoms may include loss of appetite, joint and muscle pain, low-grade fever and stomach pain. Two to six percent of adults progress to a chronic infection, while 90% of infants become chronically ill. A vaccine is available for those at risk. tmpaxzxjjyw_mondo_relaxed.owl acute hepatitis B NCIT:C157781 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0004928 biolink:NamedThing submucosa of appendix tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009107 biolink:NamedThing lipoate biosynthetic process The chemical reactions and pathways resulting in the formation of lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. tmpaxzxjjyw_mondo_relaxed.owl lipoate synthesis|lipoic acid formation|lipoic acid synthesis|lipoic acid biosynthesis|lipoic acid biosynthetic process|lipoate biosynthesis|lipoate anabolism|lipoic acid anabolism|lipoate formation owl:Class GO:0009106 biolink:NamedThing lipoate metabolic process The chemical reactions and pathways involving lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. tmpaxzxjjyw_mondo_relaxed.owl lipoic acid metabolism|lipoic acid metabolic process|lipoate metabolism owl:Class MONDO:0009859 biolink:NamedThing PHAVER syndrome Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects. tmpaxzxjjyw_mondo_relaxed.owl PHAVER syndrome|Powell-Chandra-Saal syndrome|pterygia heart defects autosomal recessive inheritance vertebral defects Ear anomalies and radial defects MESH:C538357|UMLS:C1849928|OMIM:261575|GARD:0004465|Orphanet:2876|SCTID:723453002|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/4465/phaver-syndrome owl:Class MONDO:0005441 biolink:NamedThing otitis media Inflammation of the anatomical structures of the middle ear, which is most often caused by an infectious process. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. tmpaxzxjjyw_mondo_relaxed.owl otitis Media|medial otitis|middle Ear Inflammation|inflammation of middle ear|middle ear inflammation|otitis media (disease) otitis media (disease) ICD9:382.9|UMLS:C0029882|ICD10:H66.9|HP:0000388|NCIT:C34885|MESH:D010033|EFO:0004992|ICD10:H66.90|SCTID:65363002|DOID:10754 owl:Class CHEBI:29337 biolink:NamedThing azanide tmpaxzxjjyw_mondo_relaxed.owl amide|azanide|dihydridonitrate(1-)|NH2(-) owl:Class ENVO:01000023 biolink:NamedThing marine pelagic biome The marine pelagic biome (pelagic meaning open sea) is that of the marine water column, from the surface to the greatest depths. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00000447 biolink:NamedThing marine biome An aquatic biome which is determined by a marine water body. tmpaxzxjjyw_mondo_relaxed.owl marine realm owl:Class MONDO:0009040 biolink:NamedThing craniosynostosis-intellectual disability syndrome of 51N and Gettig tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis-mental retardation syndrome of Lin and Gettig|Lin-Gettig syndrome|craniosynostosis-intellectual disability syndrome of Lin and Gettig UMLS:C1857473|GARD:0010282|MESH:C565664|OMIM:218649 owl:Class MONDO:0016882 biolink:NamedThing partial deletion of chromosome 20 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 20|partial deletion of chromosome type 20 ICD10:Q93.5|Orphanet:261846 owl:Class MONDO:0003842 biolink:NamedThing childhood cerebellar astrocytic neoplasm Benign and malignant astrocytomas that arise from astrocytes in the cerebellum. More than 80% of childhood cerebellar astrocytomas are pilocytic astrocytomas which have a favorable prognosis. The remainder are composed of diffuse or fibrillary subtypes with malignant astrocytomas occurring only rarely in the cerebellum during childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric astrocytoma of cerebellum|childhood astrocytic tumor of cerebellum|cerebellar astrocytoma, childhood|childhood astrocytoma of the cerebellum|pediatric cerebellar astrocytoma|childhood cerebellar astrocytoma|cerebellum childhood astrocytic tumor|cerebellar astrocytoma|childhood astrocytoma of cerebellum|pediatric astrocytoma of the cerebellum|cerebellum juvenile astrocytoma DOID:6286|NCIT:C6286|UMLS:C0278594|GARD:0009301 owl:Class MONDO:0012358 biolink:NamedThing leprosy, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl leprosy, Paucibacillary type, susceptibility to, 1|LPRS1|leprosy, susceptibility to, 1 OMIM:609888|Orphanet:548 owl:Class MONDO:0005124 biolink:NamedThing leprosy Leprosy is a chronic infectious disease affecting primarily the skin and peripheral nervous system. tmpaxzxjjyw_mondo_relaxed.owl Mycobacterium leprae caused disease or disorder|Hansen's disease|Hansen disease|Mycobacterium leprae infectious disease|Mycobacterium leprae disease or disorder ICD10:A30|SCTID:81004002|MESH:D007918|ICD10:A30.5|OMIM:613407|OMIM:246300|ICD10:A30.8|ICD10:A30.3|ICD10:A30.2|MedDRA:10024229|ICD10:A30.0|ICD9:030.9|EFO:0001054|GARD:0006886|OMIM:613223|ICD9:030|Orphanet:548|ICD10:A30.9|OMIM:609888|ICD10:A30.4|OMIM:610988|NCIT:C84824|UMLS:C0023343|OMIM:607572|ICD9:030.8|DOID:1024|ICD10:A30.1 owl:Class GO:0001216 biolink:NamedThing DNA-binding transcription activator activity A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets. tmpaxzxjjyw_mondo_relaxed.owl bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding|transcriptional activator activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity involved in positive regulation of transcription|bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|bacterial-type RNA polymerase transcriptional activator activity, metal ion regulated sequence-specific DNA binding|transcriptional activator activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding owl:Class GO:0003700 biolink:NamedThing DNA-binding transcription factor activity A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons. tmpaxzxjjyw_mondo_relaxed.owl bacterial-type DNA binding transcription factor activity|bacterial-type RNA polymerase transcription factor activity, metal ion regulated sequence-specific DNA binding|metal ion regulated sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity|bacterial-type RNA polymerase core promoter proximal region sequence-specific DNA binding transcription factor activity|transcription factor activity|transcription factor activity, bacterial-type RNA polymerase core promoter proximal region sequence-specific binding|bacterial-type RNA polymerase transcription factor activity, sequence-specific DNA binding|nucleic acid binding transcription factor activity|bacterial-type RNA polymerase transcription enhancer sequence-specific DNA binding transcription factor activity|DNA binding transcription factor activity|transcription factor activity, bacterial-type RNA polymerase transcription enhancer sequence-specific binding|transcription factor activity, metal ion regulated sequence-specific DNA binding|metal ion regulated sequence-specific DNA binding bacterial-type RNA polymerase transcription factor activity|transcription factor activity, bacterial-type RNA polymerase proximal promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|gene-specific transcription factor activity owl:Class MONDO:0020292 biolink:NamedThing congenital anomaly of the great arteries tmpaxzxjjyw_mondo_relaxed.owl congenital aorta, aortic arch or pulmonary arteries anomaly MedDRA:10061080|Orphanet:98724 owl:Class MONDO:0011673 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 30 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 15q25-q26. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 30|DFNA30|autosomal dominant nonsyndromic deafness type 30|autosomal dominant deafness 30|deafness, autosomal dominant 30 ICD10:H90.3|Orphanet:90635|DOID:0110560|UMLS:C1847972|MESH:C564706|OMIM:606451 owl:Class GO:1902722 biolink:NamedThing positive regulation of prolactin secretion Any process that activates or increases the frequency, rate or extent of prolactin secretion. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of prolactin secretion|up regulation of prolactin secretion|activation of prolactin secretion|upregulation of prolactin secretion owl:Class MONDO:0017361 biolink:NamedThing congenital rubella syndrome An infectious embryofetopathy that may present in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. CRS can lead to deafness, cataract, and variety of other permanent manifestations including cardiac and neurological defects. tmpaxzxjjyw_mondo_relaxed.owl mother-to-child transmission of rubella syndrome|congenital rubella|rubella congenital|fetal rubella syndrome|CRS|congenital rubella syndrome NCIT:C34992|SCTID:1857005|GARD:0004744|ICD9:771.0|ICD10:P35.0|MedDRA:10010618|EFO:0007218|Orphanet:290|MESH:D012410|UMLS:C0035921 owl:Class MONDO:0004656 biolink:NamedThing rubella A viral infection caused by the rubella virus. It is initially manifested with flu-like symptoms that last one or two days, followed by the development of a characteristic red rash which lasts from one to five days. The rash first appears in the neck and face. It subsequently spreads to the rest of the body. tmpaxzxjjyw_mondo_relaxed.owl german measles|Rubella infection|three day measles|Rubella virus disease or disorder|Rubella virus caused disease or disorder|Rubella virus infectious disease|three-Day Measles SCTID:36653000|ICD10:B06|NCIT:C85051|UMLS:C0035920|DOID:8781|ICD10:B06.9|MESH:D012409|ICD9:056|GARD:0004742|EFO:1002026 https://rarediseases.info.nih.gov/diseases/4742/rubella owl:Class MONDO:0009226 biolink:NamedThing fibrochondrogenesis 1 Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene. tmpaxzxjjyw_mondo_relaxed.owl fibrochondrogenesis type 1|fibrochondrogenesis 1|FBCG1|COL11A1 fibrochondrogenesis|fibrochondrogenesis caused by mutation in COL11A1 UMLS:C3278138|Orphanet:2021|OMIM:228520 owl:Class MONDO:0016068 biolink:NamedThing fibrochondrogenesis Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060465|OMIMPS:228520|SCTID:17144009|ICD10:Q77.7|OMIM:614524|MESH:C562524|Orphanet:2021|GARD:0002321|OMIM:228520 https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis owl:Class FOODON:03411324 biolink:NamedThing grain plant Any grass cultivated (grown) for the edible components of its grain. tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03411047 biolink:NamedThing grain or seed-producing plant tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002699 biolink:NamedThing positive regulation of immune effector process Any process that activates or increases the frequency, rate, or extent of an immune effector process. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of immune effector process|upregulation of immune effector process|activation of immune effector process|up regulation of immune effector process|stimulation of immune effector process owl:Class MONDO:0013612 biolink:NamedThing Geleophysic dysplasia 2 Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene. tmpaxzxjjyw_mondo_relaxed.owl Geleophysic dysplasia 2|FBN1 geleophysic dysplasia|geleophysic dysplasia caused by mutation in FBN1|GELEOPHYSIC dysplasia 2|Geleophysic dysplasia type 2|GPHYSD2 OMIM:614185|UMLS:C3280054|DOID:0111726|Orphanet:2623 owl:Class ECTO:0000725 biolink:NamedThing exposure to carcinogenic agent An exposure to carcinogenic agent. tmpaxzxjjyw_mondo_relaxed.owl exposure to carcinogenic agent owl:Class MONDO:0003776 biolink:NamedThing renal pelvis inverted papilloma A neoplasm of the renal pelvis in which the epithelial cells grow downward into the underlying supportive tissue. tmpaxzxjjyw_mondo_relaxed.owl renal pelvis inverted papilloma|kidney pelvis inverted papilloma|inverted papilloma of renal pelvis|inverted papilloma of kidney pelvis|inverted papilloma of the kidney pelvis|inverted papilloma of the renal pelvis NCIT:C6187|DOID:6118|UMLS:C1335751 owl:Class MONDO:0002537 biolink:NamedThing inverted papilloma An endophytic benign papillary epithelial neoplasm that results from the invagination and proliferation of epithelial cells in the underlying stroma. Representative examples are the inverted urothelial papilloma that arises from the urinary tract and inverted Schneiderian papilloma that arises from the nasal cavity or paranasal sinuses. tmpaxzxjjyw_mondo_relaxed.owl inverted papilloma|inverted papilloma, squamous cell SCTID:104081000119103|MESH:D018308|DOID:3179|UMLS:C0206721|ICD9:212.0|NCIT:C3793 owl:Class MONDO:0003232 biolink:NamedThing alcoholic pancreatitis Acute or chronic inflammation of the pancreas due to excessive alcohol drinking. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics. tmpaxzxjjyw_mondo_relaxed.owl alcoholic pancreatitis DOID:4988|EFO:1002013|SCTID:445507008|MESH:D019512|UMLS:C0376670 owl:Class MONDO:0021699 biolink:NamedThing alcohol-induced disorders Disorders stemming from the misuse and abuse of alcohol. tmpaxzxjjyw_mondo_relaxed.owl alcohol-induced disorder|alcohol induced disorders MESH:D020751|SCTID:719848005|UMLS:C0236970 owl:Class GO:0031669 biolink:NamedThing cellular response to nutrient levels Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008412 biolink:NamedThing intestinal schistosomiasis An intestinal infection that is caused by Schistosoma japonicum. tmpaxzxjjyw_mondo_relaxed.owl Katayama fever|schistosomiasis japonica|Schistosoma mansoni, intensity of infection by|Schistosoma mansoni infection, susceptibility/resistance to ICD9:120.1|UMLS:C0276932|SCTID:240796008|MESH:D012554|ICD10:B65.2|ICD9:120.2|SCTID:268058007|SCTID:750009|Orphanet:1247|SCTID:52179003|ICD10:B65.1|NCIT:C35002|EFO:1001419|NCIT:C35364|NCIT:C35001|MESH:D012555|DOID:0050597 owl:Class MONDO:0024271 biolink:NamedThing intestinal helminthiasis A parasitic helminthiasis infectious disease that involves the intestine. tmpaxzxjjyw_mondo_relaxed.owl intestine parasitic helminthiasis infectious disease UMLS:C0348287|SCTID:26249004|MESH:C531698 owl:Class MONDO:0004748 biolink:NamedThing lip disorder A disease involving the lip. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of lip|disease of lip|lip disease|lip disease or disorder|disease of lips|lip disorder|disorder of lip UMLS:C0023760|ICD10:K13.0|NCIT:C26818|MESH:D008047|DOID:9297|ICD9:528.5|SCTID:90678009 owl:Class MONDO:0019504 biolink:NamedThing superior limbic keratoconjunctivitis Superior limbic keratoconjunctivitis (SLK) is a chronic and recurrent eye disease which affects thesuperior bulbar conjunctiva (the clear layer that covers the eyeball, over the sclera) and tarsal conjunctiva (the clear layer that lines the eyelids), as well as the superior limbic aspect of the cornea (the area above the cornea). It is commonly found in women 20-70 years of age. The signs and symptoms include burning, redness and irritation and tend to develop slowly over a period of 1 to 10 years.Vision usually remains intact. While the underlying cause ofSLK remains unknown, it is believed that the condition issecondary to superior bulbar conjunctiva laxity. Factors inducing conjunctiva laxity include thyroid eye disease (usually hyperthyroidism), tight upper eyelids, and prominent globes. A mimicking disorder has been encountered in soft contact lens (SCL) wearers, typically with exposure to thimerosal-preserved solutions. Treatment of SLK may involve the use of various medications, surgery, or a combination of both. tmpaxzxjjyw_mondo_relaxed.owl Theodore's syndrome|Theodore's superior limbic keratoconjunctivitis|Theodores syndrome|SLK|Theodores superior limbic keratoconjunctivitis ICD9:370.49|ICD10:H16.2|SCTID:231903005|GARD:0010940|UMLS:C0339229|Orphanet:88633 https://rarediseases.info.nih.gov/diseases/10940/superior-limbic-keratoconjunctivitis owl:Class GO:0006631 biolink:NamedThing fatty acid metabolic process The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. tmpaxzxjjyw_mondo_relaxed.owl fatty acid metabolism owl:Class GO:0032787 biolink:NamedThing monocarboxylic acid metabolic process The chemical reactions and pathways involving monocarboxylic acids, any organic acid containing one carboxyl (COOH) group or anion (COO-). tmpaxzxjjyw_mondo_relaxed.owl monocarboxylate metabolic process|monocarboxylic acid metabolism owl:Class MONDO:0005159 biolink:NamedThing prostate carcinoma A carcinoma that arises from epithelial cells of the prostate gland. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of prostate gland|carcinoma of the prostate|prostate cancer|prostate gland carcinoma|prostate cancer, NOS|carcinoma of prostate|cancer of the prostate|prostate carcinoma|cancer of prostate NCIT:C4863|UMLS:C0600139|DOID:10286|EFO:0001663|KEGG:05215 owl:Class MONDO:0008315 biolink:NamedThing prostate cancer A primary or metastatic malignant tumor involving the prostate gland. The vast majority are carcinomas. tmpaxzxjjyw_mondo_relaxed.owl prostatic cancer|cancer of prostate gland|hereditary prostate cancer|prostate gland cancer|NGP - new growth of prostate|malignant prostate neoplasm|malignant neoplasm of prostate|malignant tumor of prostate|tumor of the prostate|prostate cancer|malignant neoplasm of the prostate|malignant neoplasm of prostate gland|malignant prostate gland neoplasm|prostate cancer, familial|prostate neoplasm|malignant tumor of the prostate|prostatic neoplasm|malignant prostate tumor OMIM:610997|ICD10:C61|NCIT:C3343|OMIM:611958|DOID:10283|OMIM:300704|OMIM:608658|OMIM:611959|OMIM:614731|MESH:D011471|OMIM:601518|OMIM:610321|OMIM:609558|UMLS:C0376358|OMIM:602759|OMIM:611868|OMIM:611100|OMIM:603688|OMIM:300147|NCIT:C7378|OMIM:611928|ICD9:185|OMIM:611955|SCTID:399068003|OMIM:609299|OMIM:608656 owl:Class GO:0051458 biolink:NamedThing corticotropin secretion The regulated release of corticotropin by a cell. Corticotropin hormone is a polypeptide hormone synthesized and secreted from corticotropes in the anterior lobe of the pituitary gland in response to corticotropin-releasing hormone (CRH) released by the hypothalamus. tmpaxzxjjyw_mondo_relaxed.owl adrenocorticotropin secretion|adrenocorticotropic hormone secretion|adrenotropin secretion|adrenotropic hormone secretion|corticotropic hormone secretion|ACTH secretion owl:Class GO:0031945 biolink:NamedThing positive regulation of glucocorticoid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. tmpaxzxjjyw_mondo_relaxed.owl up regulation of glucocorticoid metabolic process|upregulation of glucocorticoid metabolic process|activation of glucocorticoid metabolic process|stimulation of glucocorticoid metabolic process|positive regulation of glucocorticoid metabolism|up-regulation of glucocorticoid metabolic process owl:Class GO:0031325 biolink:NamedThing positive regulation of cellular metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. tmpaxzxjjyw_mondo_relaxed.owl stimulation of cellular metabolic process|up-regulation of cellular metabolic process|up regulation of cellular metabolic process|activation of cellular metabolic process|positive regulation of cellular metabolism|upregulation of cellular metabolic process owl:Class MONDO:0010706 biolink:NamedThing premature ovarian failure 1 Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene. tmpaxzxjjyw_mondo_relaxed.owl idiopathic familial premature ovarian failure|Pof1|FMR1-related primary ovarian insufficiency|fragile X-associated primary ovarian insufficiency|premature ovarian failure 1|primary ovarian failure caused by mutation in FMR1|familial premature ovarian failure|ovarian failure, premature|premature ovarian failure type 1|FMR1 primary ovarian failure|premature ovarian failure, X-linked|FMR1-related premature ovarian failure|hypergonadotropic ovarian failure, X-linked ICD9:256.39|OMIM:311360|GARD:0004480 owl:Class GO:0045904 biolink:NamedThing negative regulation of translational termination Any process that stops, prevents, or reduces the frequency, rate or extent of translational termination. tmpaxzxjjyw_mondo_relaxed.owl inhibition of translational termination|down regulation of translational termination|down-regulation of translational termination|downregulation of translational termination owl:Class MONDO:0015674 biolink:NamedThing late infantile neuronal ceroid lipofuscinosis A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. tmpaxzxjjyw_mondo_relaxed.owl amaurotic idiocy early juvenile type|LINCL|late-infantile neuronal ceroid lipofuscinosis|amaurotic idiocy, late infantile type|Bielschowsky-jansky disease|dollinger-Bielschowsky type neuronal ceroid lipofuscinosis|late infantile neuronal ceroid lipofuscinosis|dollinger-Bielschowsky syndrome|amaurotic idiocy, early juvenile type|Jansky-Bielschowsky disease|amaurotic idiocy late infantile type|late infantile NCL|Bielschowsky-jansky type neuronal ceroid lipofuscinosis OMIM:610127|Orphanet:168491|OMIM:610951|OMIM:256730|OMIM:256731|OMIM:600143|OMIM:204500|SCTID:14637005|OMIM:601780|ICD10:E75.4 owl:Class MONDO:0020074 biolink:NamedThing progressive myoclonus epilepsy A rare group of disorders characterized by the development of myoclonic and tonic-clonic epileptic seizures associated with progressive degeneration of the nervous system. tmpaxzxjjyw_mondo_relaxed.owl familial progressive myoclonic epilepsy|epilepsy, progressive myoclonic|progressive myoclonic epilepsy|PME|progressive myoclonic epilepsy (disorder) [ambiguous]|progressive myoclonus epilepsy SCTID:267581004|OMIM:612437|OMIM:310370|GARD:0007140|OMIMPS:254800|OMIM:254900|NCIT:C7636|OMIM:611726|DOID:891|MESH:D020191|UMLS:C0751778|Orphanet:98261|OMIM:614018 owl:Class MONDO:0008145 biolink:NamedThing Ollier disease A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones. tmpaxzxjjyw_mondo_relaxed.owl enchondromatosis, multiple|dyschondroplasia|Ollier's disease|multiple enchondromatosis|enchondromatosis, multiple, Ollier type|Kast's syndrome|enchondromatosis|enchondromatosis with haemangiomata|osteochondromatosis|multiple cartilaginous enchondroses|Ollier disease|Ollier type enchondromatosis DOID:4624|UMLS:C0024454|SCTID:268274005|UMLS:C0206641|NCIT:C3213|UMLS:CN203308|OMIM:166000|UMLS:C0014084|GARD:0007251|Orphanet:296|ICD10:Q78.4|SCTID:46041001|NCIT:C3008|MedDRA:10014642 https://rarediseases.info.nih.gov/diseases/7251/ollier-disease owl:Class UBERON:0014704 biolink:NamedThing pleuroperitoneal canal lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004366 biolink:NamedThing mixed astrocytoma-ependymoma-oligodendroglioma A mixed glioma characterized by the presence of astrocytic, ependymal, and oligodendroglial neoplastic components. tmpaxzxjjyw_mondo_relaxed.owl mixed astrocytoma-ependymoma-oligodendroglioma DOID:7817|UMLS:C0280792|NCIT:C8272 owl:Class MONDO:0003268 biolink:NamedThing mixed glioma A tumor composed of two or more glial cell types (astrocytes, ependymal cells, and oligodendrocytes). tmpaxzxjjyw_mondo_relaxed.owl mixed glial tumor|mixed neuroglial tumor|mixed gliomas|glioma, mixed, malignant|mixed neuroglial neoplasm|mixed glial neoplasm|mixed glioma|glioma, mixed|mixed glioma (morphologic abnormality) SCTID:443937008|DOID:5076|MESH:D005910|ICDO:9382/3|NCIT:C3903|UMLS:C0259783 owl:Class MONDO:0001031 biolink:NamedThing purulent acute otitis media Acute form of suppurative otitis media. tmpaxzxjjyw_mondo_relaxed.owl suppurative otitis media, acute|acute suppurative otitis media ICD9:382.02|DOID:10435|SCTID:194281003|UMLS:C0271431 owl:Class MONDO:0005975 biolink:NamedThing suppurative otitis media Inflammation of the middle ear with purulent discharge. tmpaxzxjjyw_mondo_relaxed.owl purulent otitis media|otitis media with effusion - purulent SCTID:39288006|ICD9:382.4|EFO:0007503|SCTID:38394007|ICD10:H66|DOID:11506|UMLS:C0029888|ICD10:H66.4|ICD9:382|ICD10:H66.40|MESH:D010035 owl:Class MONDO:0001469 biolink:NamedThing cascade stomach tmpaxzxjjyw_mondo_relaxed.owl hourglass stricture or stenosis of stomach SCTID:54051005|ICD9:537.6|ICD10:K31.2|DOID:12234|UMLS:C0267183 owl:Class MONDO:0004298 biolink:NamedThing stomach disorder A disease involving the stomach. tmpaxzxjjyw_mondo_relaxed.owl gastric disease|disease of stomach|stomach disease or disorder|stomach disease|disease or disorder of stomach|gastropathy|disorder of stomach|stomach disorder MESH:D013272|ICD9:537.89|ICD9:537.9|UMLS:C0038354|DOID:76|NCIT:C26886|SCTID:29384001 owl:Class MONDO:0011470 biolink:NamedThing hyperlipidemia, combined, 2 tmpaxzxjjyw_mondo_relaxed.owl hyperlipidemia, combined, type 2|hyperlipidemia, combined, 2|hyplip2|hyperlipidemia, familial combined, 2 OMIM:604499|MESH:C565766|UMLS:C1858308 owl:Class OBO:CHR_9606-chr2q31.1 biolink:NamedThing 2q31.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 177100000 168900000 hg38 owl:Class MONDO:0006890 biolink:NamedThing parathyroid gland adenoma A benign tumor arising from the parenchymal cells of the parathyroid glands. In the vast majority of cases, the tumor involves a single parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. It is usually surrounded by a well-defined capsule. Capsular invasion, vascular invasion, and perineural invasion are absent. tmpaxzxjjyw_mondo_relaxed.owl adenoma of the parathyroid|adenoma of parathyroid|adenoma of parathyroid gland|adenoma of the parathyroid gland|parathyroid gland adenoma|parathyroid adenoma UMLS:C0262587|HP:0002897|EFO:1001087|MedDRA:10033940|NCIT:C3916|DOID:7608|SCTID:128474007 owl:Class HP:0010910 biolink:NamedThing Hypervalinemia An increased concentration of valine in the blood. tmpaxzxjjyw_mondo_relaxed.owl High blood valine concentration SNOMEDCT_US:47719001|UMLS:C0268573|MSH:C536524 peter 2010-12-08T08:44:27Z human_phenotype owl:Class HP:0010914 biolink:NamedThing Abnormal circulating valine concentration Any deviation from the normal circulation of valine in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of valine metabolism UMLS:C4023656 peter 2010-12-08T08:51:14Z human_phenotype owl:Class NCBITaxon:5796 biolink:NamedThing Coccidia tmpaxzxjjyw_mondo_relaxed.owl coccidians GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1280412 biolink:NamedThing Conoidasida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class OBO:CHR_9606-chr20q biolink:NamedThing 20q (Human) tmpaxzxjjyw_mondo_relaxed.owl 64444167 28100000 hg38 owl:Class MONDO:8000001 biolink:NamedThing staphylococcus discitis Discitis caused by infection with Staphylococcus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0039168 biolink:NamedThing colic lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0037531 biolink:NamedThing intestinal lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11782 biolink:NamedThing TH tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001003 biolink:NamedThing skin epidermis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:3000961 biolink:NamedThing external integument structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002734 biolink:NamedThing anal mucinous adenocarcinoma An anal adenocarcinoma characterized by the presence of mucoid stroma formation. tmpaxzxjjyw_mondo_relaxed.owl mucinous adenocarcinoma of the anus|anus mucinous adenocarcinoma|colloid adenocarcinoma of the anus|mucinous adenocarcinoma of anus|anal mucinous adenocarcinoma|colloidal adenocarcinoma of the anus|anal colloidal adenocarcinoma|colloid adenocarcinoma of anus|colloidal adenocarcinoma of anus|anal colloid adenocarcinoma UMLS:C1332272|DOID:3691|NCIT:C5606 owl:Class MONDO:0002748 biolink:NamedThing rectum mucinous adenocarcinoma An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. tmpaxzxjjyw_mondo_relaxed.owl mucinous adenocarcinoma of rectum|rectal colloid adenocarcinoma|colloidal adenocarcinoma of rectum|colloid adenocarcinoma of the rectum|rectum mucinous adenocarcinoma|rectal mucinous adenocarcinoma|colloidal adenocarcinoma of the rectum|mucinous adenocarcinoma of the rectum|rectal colloidal adenocarcinoma|colloid adenocarcinoma of rectum NCIT:C7973|UMLS:C0279652|DOID:3709 owl:Class MONDO:0010013 biolink:NamedThing schneckenbecken dysplasia Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia. tmpaxzxjjyw_mondo_relaxed.owl SHNKND|SLC35D1-CDG|chondrodysplasia lethal neonatal with snail like pelvis|chondrodysplasia, lethal neonatal, with snail-like pelvis|chondrodysplasia with snail-like pelvis|schneckenbecken dysplasia UMLS:C0432194|MESH:C536637|SCTID:254049009|ICD10:Q77.7|OMIM:269250|Orphanet:3144|GARD:0000169|ICD9:756.9|DOID:0050775 https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia owl:Class MONDO:0017744 biolink:NamedThing disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis tmpaxzxjjyw_mondo_relaxed.owl ICD10:E77.8|Orphanet:309463|UMLS:CN227191 owl:Class HGNC:11771 biolink:NamedThing TGFBI tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901576 biolink:NamedThing organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. tmpaxzxjjyw_mondo_relaxed.owl organic substance formation|organic molecular entity biosynthesis|organic molecular entity biosynthetic process|organic molecular entity formation|organic substance biosynthesis|organic molecular entity synthesis|organic substance anabolism|organic molecular entity anabolism|organic substance synthesis owl:Class MONDO:0006654 biolink:NamedThing anthracosis A chronic lung disorder characterized by deposition of coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. It occurs in coal miners. tmpaxzxjjyw_mondo_relaxed.owl pneumoconiosis from coal dust|coal dust pneumoconiosis|coal workers' lung|coal miner's pneumoconiosis|melanoedema|coal workers' pneumoconiosis|black lung NCIT:C34390|MedDRA:10073051|EFO:1000814|DOID:10327|MESH:D055008|SCTID:29422001|UMLS:C0003165|ICD9:500|ICD10:J60 owl:Class ENVO:01000274 biolink:NamedThing slate Slate is a metamorphic rock which is fine-grained, foliated, homogeneous, Slates are derived from clastic sedimentary rocks. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00002017 biolink:NamedThing metamorphic rock A rock formed by subjecting any rock type (including previously-formed metamorphic rock) to different temperature and pressure conditions than those in which the original rock was formed. These temperatures and pressures are always higher than those at the Earth's surface and must be sufficiently high so as to change the original minerals into other mineral types or else into other forms of the same minerals (e.g. by recrystallisation). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007055 biolink:NamedThing acromicric dysplasia Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands. tmpaxzxjjyw_mondo_relaxed.owl acromicric skeletal dysplasia|acromicric dysplasia|ACMICD OMIM:102370|GARD:0000007|Orphanet:969|MESH:C535662|SCTID:254090007|ICD10:Q77.8|ICD9:756.59|DOID:0111243 https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia owl:Class MONDO:0019695 biolink:NamedThing acromelic dysplasia tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q74.8|Orphanet:93436 owl:Class MONDO:0013925 biolink:NamedThing methylmalonic acidemia with homocystinuria, type cblJ tmpaxzxjjyw_mondo_relaxed.owl methylmalonic aciduria and homocystinuria, cblJ type|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ|cobalamin J defect|cblJ defects|methylmalonic acidemia with homocystinuria type cblJ|methylmalonic aciduria with homocystinuria, type cblJ|MAHCJ GARD:0012621|Orphanet:26|OMIM:614857|UMLS:C3553915|Orphanet:369955|ICD10:E71.1 https://rarediseases.info.nih.gov/diseases/12621/methylmalonic-acidemia-with-homocystinuria-type-cblj owl:Class MONDO:0016826 biolink:NamedThing methylmalonic acidemia with homocystinuria Methylmalonic acidemia with homocystinuria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. There are four complementation classes of cobalamin defects (cblC, cblD, cblF and cblJ) that are responsible for methylmalonic acidemia - homocystinuria (methylmalonic acidemia - homocystinuria cblC, cblD cblF and cblJ). tmpaxzxjjyw_mondo_relaxed.owl combined defect in adenosylcobalamin and methylcobalamin synthesis|methylmalonic aciduria with homocystinuria|methylmalonic acidemia and homocystinemia Orphanet:26|GARD:0003579|OMIM:277410|OMIM:277380|OMIM:614857|MESH:C537359|OMIM:277400|ICD10:E71.1 https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria owl:Class MONDO:0006247 biolink:NamedThing histiocytic and dendritic cell neoplasm Rare tumors that affect the hematopoietic and lymphoid tissues. The cells of origin are the histiocytes and accessory cells. They can occur at any age and show no significant variations in geographical distribution. This category includes the histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitading dendritic cell sarcoma/tumor, follicular dendritic cell sarcoma/tumor, and dendritic cell sarcoma, not otherwise specified. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl histiocytic and dendritic cell|histiocytic and dendritic cell tumor|histiocytic and dendritic cell neoplasm|histiocytic and dendritic cell cancer|histiocytic and Dendritic cell tumors|histiocytic and Dendritic cell neoplasms UMLS:CN206982|DOID:5621|EFO:1000297|UMLS:C1334030|NCIT:C9294|Orphanet:98287 owl:Class MONDO:0044881 biolink:NamedThing hematopoietic and lymphoid cell neoplasm A neoplasm arising from hematopoietic cells found in the bone marrow, peripheral blood, lymph nodes and spleen (organs of the hematopoietic system). Hematopoietic cell neoplasms can also involve other anatomic sites (e.g. central nervous system, gastrointestinal tract), either by metastasis, direct tumor infiltration, or neoplastic transformation of extranodal lymphoid tissues. The commonest forms are the various types of leukemia, Hodgkin and non-Hodgkin lymphomas, myeloproliferative neoplasms, and myelodysplastic syndromes. tmpaxzxjjyw_mondo_relaxed.owl hematopoietic and lymphoid cell neoplasm|hematologic malignancy|hematopoietic and lymphoid neoplasms|hematopoietic cell tumor|hematopoietic, Including myeloma|hematopoietic cancer|hematopoietic tumor|hematopoietic malignancy, NOS|malignant hematologic neoplasm|malignant hematopoietic neoplasm|hematopoietic neoplasms including Lymphomas|hematological neoplasm|hematological tumor|hematologic neoplasm|HEMOLYMPHORETICULAR tumor, malignant|hematopoietic neoplasm|hematologic cancer NCIT:C27134 owl:Class MONDO:0014053 biolink:NamedThing stomatin-like protein-2, hyperphosphorylation of tmpaxzxjjyw_mondo_relaxed.owl stomatin-like protein-2, hyperphosphorylation of|hyperphosphorylated Paratarg-7 2022-04-01 OMIM:615121 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class UBERON:0006286 biolink:NamedThing radius cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010883 biolink:NamedThing forelimb cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015794 biolink:NamedThing left lung lobar bronchus epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002339 biolink:NamedThing epithelium of lobar bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015405 biolink:NamedThing cerebrofacial arteriovenous metameric syndrome A disorder characterized by vascular malformations that encompasses a spectrum of phenotypic expression involving arteriovenous malformations (AVMs) of the cerebral, orbital, and facial region. tmpaxzxjjyw_mondo_relaxed.owl CAMS Orphanet:141189|ICD10:Q28.2|SCTID:703266007|UMLS:C3839265|UMLS:CN199500 owl:Class MONDO:0001905 biolink:NamedThing bicipital tenosynovitis tmpaxzxjjyw_mondo_relaxed.owl SCTID:41137001|ICD9:726.12|UMLS:C0158304|DOID:14192 owl:Class MONDO:0008153 biolink:NamedThing progressive osseous heteroplasia A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation. tmpaxzxjjyw_mondo_relaxed.owl osteoma cutis|ectopic ossification, familial|osseous heteroplasia, progressive|poh|ectopic ossification familial type|familial ectopic ossification GARD:0000109|SCTID:719271000|DOID:0111535|MESH:C562735|Orphanet:2762|ICD10:M61.5|UMLS:C0334041|MedDRA:10048902|OMIM:166350 https://rarediseases.info.nih.gov/diseases/109/progressive-osseous-heteroplasia owl:Class MONDO:0014214 biolink:NamedThing short-rib thoracic dysplasia 8 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. tmpaxzxjjyw_mondo_relaxed.owl short rib-polydactyly syndrome, type 6|SRTD8|short-rib thoracic dysplasia 8 with or without polydactyly|SRPS6|short rib-polydactyly syndrome type VI Orphanet:93271|ICD10:Q77.2|OMIM:615503|DOID:0110094|UMLS:C3809691 owl:Class NCIT:C45981 biolink:NamedThing Presence of a Hormonal Syndrome tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C36285 biolink:NamedThing Endocrine System Finding tmpaxzxjjyw_mondo_relaxed.owl Endocrine System Finding owl:Class UBERON:0006338 biolink:NamedThing lateral ventricle choroid plexus stroma tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005206 biolink:NamedThing choroid plexus stroma tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014983 biolink:NamedThing congenital myasthenic syndrome 21 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital myasthenic syndrome type 21|SLC18A3 congenital myasthenic syndrome|CMS21|myasthenic syndrome, congenital, 21, presynaptic|congenital myasthenic syndrome 21, presynaptic|congenital myasthenic syndrome caused by mutation in SLC18A3 OMIM:617239|DOID:0110672|UMLS:C4310654 owl:Class MONDO:0002644 biolink:NamedThing idiopathic granulomatous myositis tmpaxzxjjyw_mondo_relaxed.owl granulomatous myositis|idiopathic granulomatous myositis DOID:3428|Orphanet:206979|UMLS:C1334150|NCIT:C27575 owl:Class MONDO:0011213 biolink:NamedThing Pierpont syndrome Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear. tmpaxzxjjyw_mondo_relaxed.owl PIERPONT syndrome|plantar lipomatosis-facial dysmorphism-developmental delay syndrome|plantar lipomatosis-unusual facies-developmental delay syndrome|plantar lipomatosis, unusual facies, and developmental delay|PRPTS|Pierpont syndrome MESH:C566559|UMLS:C1865644|Orphanet:487825|OMIM:602342 owl:Class MONDO:0019296 biolink:NamedThing subcutaneous tissue disorder A disease involving the superficial fascia. tmpaxzxjjyw_mondo_relaxed.owl superficial fascia disease|superficial fascia disease or disorder|disease or disorder of superficial fascia|disorder of superficial fascia|disease of superficial fascia UMLS:C1290008|Orphanet:79382 owl:Class NCBITaxon:11020 biolink:NamedThing Barmah Forest virus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011045 biolink:NamedThing MMEP syndrome A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. tmpaxzxjjyw_mondo_relaxed.owl syndromic microphthalmia type 8|microphthalmia, syndromic 8|MMEP|microcephaly microphthalmia ectrodactyly of lower limbs and prognathism|Viljoen-Smart syndrome|Viljoen Smart syndrome|microphthalmia syndromic 8|microcephaly, microphthalmia, ectrodactyly of Lower limbs, and prognathism|microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome|MCOPS8 ICD10:Q87.8|Orphanet:3434|SCTID:715533002|OMIM:601349|MESH:C537686|UMLS:C4275099|UMLS:C1832440|GARD:0003693 owl:Class MONDO:0013807 biolink:NamedThing congenital stationary night blindness 1E Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene. tmpaxzxjjyw_mondo_relaxed.owl CSNB1E|congenital stationary night blindness 1E autosomal recessive|night blindness, congenital stationary, type 1E|congenital stationary night blindness caused by mutation in GPR179|congenital stationary night blindness 1E|Csnb, complete, autosomal recessive|GPR179 congenital stationary night blindness|congenital stationary night blindness type 1E OMIM:614565|UMLS:C3281215|DOID:0110869 owl:Class MONDO:0016293 biolink:NamedThing congenital stationary night blindness tmpaxzxjjyw_mondo_relaxed.owl congenital essential nyctalopia|night blindness, congenital stationary ICD9:368.61|OMIM:613216|ICD10:H53.6|OMIM:610444|SCTID:232061009|ICD10:H53.63|MESH:C537743|SCTID:193687000|OMIM:610427|OMIM:613830|OMIM:614565|OMIM:310500|MESH:C536122|OMIM:616389|OMIMPS:310500|OMIM:257270|OMIM:300071|OMIM:163500|Orphanet:215|OMIM:610445|DOID:0050534|OMIM:615058 owl:Class GO:2001171 biolink:NamedThing positive regulation of ATP biosynthetic process Any process that activates or increases the frequency, rate or extent of ATP biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of ATP biosynthesis|positive regulation of ATP formation|positive regulation of ATP anabolism|positive regulation of ATP synthesis|positive regulation of ATP regeneration owl:Class MONDO:0005181 biolink:NamedThing progressive external ophthalmoplegia A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422) tmpaxzxjjyw_mondo_relaxed.owl chronic progressive external ophthalmoplegia [ambiguous]|progressive external ophthalmoplegia|chronic progressive external ophthalmoplegia DOID:12558|Orphanet:520820|ICD9:378.72|EFO:0002509|HP:0000590|SCTID:46252003|ICD10:H49.4|GARD:0004503|MESH:D017246 owl:Class MONDO:0006120 biolink:NamedThing C-cell hyperplasia Neoplastic or reactive proliferation of the C-cells in the thyroid gland. The neoplastic C-cell hyperplasia is associated with familial medullary thyroid gland carcinoma and multiple endocrine neoplasia type II and IIB. Morphologically, it is characterized by the presence of clusters of intrafollicular C-cells with atypical cytologic features. The reactive C-cell hyperplasia is also known as physiological or secondary C-cell hyperplasia and it is associated with conditions that cause hypercalcemia (e.g., hyperparathyroidism). tmpaxzxjjyw_mondo_relaxed.owl C-cell hyperplasia NCIT:C46100|EFO:1000147|UMLS:C0342190 owl:Class MONDO:0015884 biolink:NamedThing autosomal dominant hypohidrotic ectodermal dysplasia Autosomal dominant form of hypohidrotic ectodermal dysplasia. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant anhidrotic ectodermal dysplasia|hypohidrotic ectodermal dysplasia, autosomal dominant|AD-HED OMIM:614940|ICD10:Q82.4|OMIM:129490|Orphanet:1810 owl:Class MONDO:0010069 biolink:NamedThing spondylocostal dysostosis-anal and genitourinary malformations syndrome Spondylocostal dysostosis-anal and genitourinary malformations syndrome is characterised by the association of spondylocostal dysostosis with anal and genitourinary malformations (anal atresia and agenesis of external and internal genitalia). To date, only four cases have been described in the literature. Autosomal recessive inheritance has been suggested. tmpaxzxjjyw_mondo_relaxed.owl spondylocostal dysostosis with anal atresia and urogenital anomalies|Casamassima-Morton-Nance syndrome|spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome|CMn syndrome ICD10:Q87.8|Orphanet:94095|OMIM:271520|MESH:C564799|UMLS:C1849069 owl:Class MONDO:0018826 biolink:NamedThing Lewis-Sumner syndrome A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy. tmpaxzxjjyw_mondo_relaxed.owl multifocal acquired demyelinating sensory and motor neuropathy|MADSAM UMLS:C1695985|ICD10:G61.8|Orphanet:48162|GARD:0013070|MedDRA:10065580 https://github.com/monarch-initiative/mondo/issues/2760|https://rarediseases.info.nih.gov/diseases/13070/lewis-sumner-syndrome owl:Class MONDO:0006702 biolink:NamedThing chronic inflammatory demyelinating polyradiculoneuropathy A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. This causes weakness, paralysis and/or impairment in motor function, especially of the arms and legs (limbs). Sensory disturbance may also be present. The motor and sensory impairments usually affect both sides of the body (symmetrical), and the degree of severity and the course of disease may vary from case to case. Some affected individuals may follow a slow steady pattern of symptoms while others may have symptoms that stabilize and then relapse. tmpaxzxjjyw_mondo_relaxed.owl chronic inflammatory demyelinating polyneuropathy|CIDP|chronic relapsing polyneuropathy|chronic inflammatory demyelinating polyradiculoneuropathy MedDRA:10057645|Orphanet:2932|EFO:1000868|ICD9:357.81|ICD9:357.89|NCIT:C84636|SCTID:444728005|ICD10:G61.81|SCTID:128209004|MESH:D020277|DOID:5213 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2760|https://github.com/monarch-initiative/mondo/issues/3697 owl:Class UBERON:0005419 biolink:NamedThing pectoral appendage bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004357 biolink:NamedThing paired limb/fin bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004778 biolink:NamedThing epididymo-orchitis A disorder involving inflammation of the epididymis and testes. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149881|ICD10:N45.3|SCTID:197983000|DOID:9401|ICD9:604.90|ICD10:N45|ICD9:604 owl:Class NCIT:C49163 biolink:NamedThing Surgical Procedure by Site or System tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C15329 biolink:NamedThing Surgical Procedure tmpaxzxjjyw_mondo_relaxed.owl Surgical Procedure IMDRF:F19 owl:Class MONDO:0008639 biolink:NamedThing vascular helix of umbilical cord tmpaxzxjjyw_mondo_relaxed.owl vascular helix of umbilical cord OMIM:192300 owl:Class HP:0000526 biolink:NamedThing Aniridia Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. tmpaxzxjjyw_mondo_relaxed.owl Absent iris UMLS:C0003076|MSH:D015783|SNOMEDCT_US:69278003 HP:0011498 human_phenotype owl:Class HP:0008053 biolink:NamedThing Aplasia/Hypoplasia of the iris Absence or underdevelopment of the iris. tmpaxzxjjyw_mondo_relaxed.owl Absent/small iris|Absent/underdeveloped iris UMLS:C4024748 peter 2008-04-02T01:50:00Z human_phenotype owl:Class HGNC:3481 biolink:NamedThing ETFA tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12370 biolink:NamedThing CEP41 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051053 biolink:NamedThing negative regulation of DNA metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving DNA. tmpaxzxjjyw_mondo_relaxed.owl down regulation of DNA metabolic process|downregulation of DNA metabolic process|negative regulation of DNA metabolism|inhibition of DNA metabolic process|down-regulation of DNA metabolic process owl:Class GO:0010605 biolink:NamedThing negative regulation of macromolecule metabolic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007894 biolink:NamedThing Leri pleonosteosis Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner. tmpaxzxjjyw_mondo_relaxed.owl chromosome 8q22.1 DUPLICATION syndrome|Leri's pleonosteosis|pleonosteosis Leri type|Leri type pleonosteosis|Leri pleonosteosis ICD10:Q68.8|UMLS:C1835450|GARD:0000088|MESH:C537118|Orphanet:2900|OMIM:151200 https://rarediseases.info.nih.gov/diseases/88/leri-pleonosteosis owl:Class HGNC:6371 biolink:NamedThing KLKB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001707 biolink:NamedThing cardiac sarcoidosis Sarcoidosis affecting the tissues of the heart. tmpaxzxjjyw_mondo_relaxed.owl heart sarcoidosis|sarcoidosis of heart UMLS:C0392077|NCIT:C35589|DOID:13405|SCTID:75403004 owl:Class MONDO:0019338 biolink:NamedThing sarcoidosis Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs. tmpaxzxjjyw_mondo_relaxed.owl benign lymphogranulomatosis of Schaumann|Boeck's sarcoidosis|sarcoid|lupus pernio of Besnier|lymphogranulomatosis|besnier-Boeck-Schaumann syndrome|Besnier-Boeck-Schaumann disease|Darier-Roussy sarcoid|sarcoidosis|Boeck's sarcoid|miliary lupoid of boeck|Boeck sarcoid OMIM:612388|ICD10:D86.2|MedDRA:10039486|ICD10:D86.1|ICD10:D86.9|ICD10:D86.0|OMIM:612387|OMIM:181000|ICD10:D86|DOID:11335|ICD10:D86.8|Orphanet:797|ICD10:D80-D89|UMLS:C0036202|ICD10:D86.3|SCTID:31541009|NCIT:C34995|ICD9:135|MESH:D012507 Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease owl:Class MONDO:0021202 biolink:NamedThing allergic otitis media A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction. tmpaxzxjjyw_mondo_relaxed.owl allergic otitis media (disease)|allergic form of otitis media (disease) SCTID:26169004|UMLS:C0271447 owl:Class MONDO:0007629 biolink:NamedThing fragile site 10Q23 tmpaxzxjjyw_mondo_relaxed.owl fragile site 10Q23|fragile site type 10Q23 OMIM:136540|UMLS:C1850987 owl:Class MONDO:0021120 biolink:NamedThing functioning endocrine neoplasm A hormone producing endocrine neoplasm, associated with a hormonal syndrome. tmpaxzxjjyw_mondo_relaxed.owl functioning endocrine neoplasm|functioning tumor UMLS:C2986655|ICDO:8158/1|NCIT:C94759 owl:Class MONDO:0060777 biolink:NamedThing cervical fibroepithelial polyp A usually solitary polypoid lesion that arises from the cervix. It usually affects women in their reproductive years. It is characterized by the presence of a connective tissue core and overlying epithelium. tmpaxzxjjyw_mondo_relaxed.owl Cervical fibroepithelial polyp|uterine cervix fibroepithelial polyp UMLS:C1516413|NCIT:C40200 owl:Class MONDO:0060765 biolink:NamedThing fibroepithelial polyp A polypoid lesion composed of fibrous tissue and epithelium. Representative examples include skin tag, anal fibroepithelial polyp, and gingival fibroepithelial polyp. tmpaxzxjjyw_mondo_relaxed.owl fibroepithelial polyp|fibropapilloma, benign NCIT:C3337 owl:Class MONDO:0013270 biolink:NamedThing Rett syndrome, congenital variant tmpaxzxjjyw_mondo_relaxed.owl Rett syndrome, congenital variant Orphanet:3095|UMLS:C3150705|OMIM:613454 owl:Class MONDO:0100040 biolink:NamedThing FOXG1 disorder A monogenic disease that has material basis in mutation in the FOXG1 gene. tmpaxzxjjyw_mondo_relaxed.owl FOXG1 inherited genetic disease|FOXG1 disorder|inherited genetic disease caused by mutation in FOXG1 2018-06-29 19:29:48+00:00 Subtypes of the heterogeneous, eponymously named Congenital variant of Rett Syndrome, and Atypical Rett Syndrome are caused by mutations in the gene FOXG1. The common and most penetrant phenotype shared among these disease entities is neurodevelopmental impairment present in early infancy, progressive microcephaly, and MRI of the brain showing reduced myelinization and/or abnormal corpus callosum. Stereotypic hand movements, epilepsy, and abnormal breathing can have variable phenotypic expressivity. owl:Class MONDO:0009011 biolink:NamedThing constriction rings syndrome Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise. tmpaxzxjjyw_mondo_relaxed.owl congenital ring constrictions|amputation, congenital|CONSTRICTING bands, congenital|constriction band syndrome|Streeter dysplasia|amniotic band sequence|terminal transverse defects of arm|Adam Complex|Streeter anomaly Orphanet:295000|ICD10:Q79.8|UMLS:C1857578|OMIM:217100|Orphanet:93937 owl:Class MONDO:0015167 biolink:NamedThing amniotic band syndrome Amniotic band syndrome (ABS) describes a group of sporadic congenital anomalies, that occur in association with amniotic bands, involving the limbs, craniofacial regions, spine and trunk with a highly variable clinical spectrum ranging from simple digital band constriction (or amputation) to complex craniofacial, central nervous system and visceral anomalies. tmpaxzxjjyw_mondo_relaxed.owl deformity due to amniotic band|amniotic bands sequence|Adam syndrome|congenital constricting bands|amniotic bands|amniotic band constriction|familial amniotic bands|amniotic deformity-adhesion-mutilation syndrome GARD:0000429|SCTID:440214006|Orphanet:1034|MESH:D000652|ICD10:Q79.8|NCIT:C84552 owl:Class MONDO:0004403 biolink:NamedThing childhood precursor T-lymphoblastic lymphoma/leukemia A T lymphoblastic leukemia/lymphoma that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl precursor T-lymphoblastic lymphoma/leukemia of childhood|childhood T lymphoblastic leukemia/lymphoma|childhood precursor T-lymphoblastic lymphoma/leukemia|pediatric precursor T-lymphoblastic lymphoma/leukemia NCIT:C5640|DOID:7933|UMLS:C1332997 owl:Class MONDO:0003537 biolink:NamedThing precursor T-lymphoblastic lymphoma/leukemia A neoplasm of lymphoblasts committed to the T-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called T acute lymphoblastic leukemia. When it involves nodal or extranodal sites it is called T lymphoblastic lymphoma. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl precursor T lymphoblastic leukemia/lymphoma|T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic lymphoma/leukemia|precursor T-lymphoblastic lymphoma/leukemia NCIT:C8694|DOID:5599|ICDO:9837/3|UMLS:C1301359 owl:Class GO:0001802 biolink:NamedThing type III hypersensitivity An inflammatory response resulting from recognition of immune complexes via complement or Fc receptors on effector cells leading to activation of neutrophils and other leukocytes and damage to bystander tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016064 biolink:NamedThing immunoglobulin mediated immune response An immune response mediated by immunoglobulins, whether cell-bound or in solution. tmpaxzxjjyw_mondo_relaxed.owl antibody-mediated immune response owl:Class UBERON:0014695 biolink:NamedThing deep auricular artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009655 biolink:NamedThing auricular artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100073 biolink:NamedThing methicillin-resistant staphylococcus aureus infectious disease Infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic, methicillin. The mechanism of resistance usually involves modification of normal or the presence of acquired penicillin binding proteins. tmpaxzxjjyw_mondo_relaxed.owl MRSA http://orcid.org/0000-0001-5208-3432 owl:Class ENVO:00002872 biolink:NamedThing bagasse The biomass remaining after sugarcane stalks are crushed to extract their juice. tmpaxzxjjyw_mondo_relaxed.owl sugarcane bagasse owl:Class ENVO:00002264 biolink:NamedThing waste material A material which is not the desired output of a process and which is typically the input of a process which removes it from its producer (e.g. a disposal process). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002541 biolink:NamedThing spinal cord oligodendroglioma A oligodendroglioma that involves the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl oligodendroglioma of spinal cord|well differentiated spinal cord oligodendroglial tumor|well differentiated spinal cord oligodendroglioma|spinal cord oligodendroglioma SCTID:254950006|NCIT:C4535|DOID:3184|UMLS:C0346295 owl:Class MONDO:0003142 biolink:NamedThing intracranial primitive neuroectodermal tumor A primitive neuroectodermal tumor that involves the brain. tmpaxzxjjyw_mondo_relaxed.owl intracranial primitive neuroectodermal neoplasm|brain primitive neuroectodermal tumor|intracranial primitive neuroectodermal tumor|intracranial PNET|primitive neuroectodermal tumor of brain NCIT:C5817|DOID:4788|UMLS:C1334246 owl:Class MONDO:0011612 biolink:NamedThing glycine encephalopathy Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity. tmpaxzxjjyw_mondo_relaxed.owl non-ketotic hyperglycinemia|hyperglycinemia, Nonketotic|NKA|GLYCINE encephalopathy|GCE|hyperglycinemia nonketotic|glycine encephalopathy|hyperglycinemia, transient neonatal|Glycine synthase deficiency|nonketotic hyperglycinemia ICD9:270.7|DOID:9268|NCIT:C84937|ICD10:E72.5|OMIM:605899|SCTID:237939006|ICD10:E72.51|Orphanet:407|GARD:0007219|UMLS:C0751748 https://rarediseases.info.nih.gov/diseases/7219/glycine-encephalopathy owl:Class MONDO:0029147 biolink:NamedThing spermatogenic failure 33 tmpaxzxjjyw_mondo_relaxed.owl SPERMATOGENIC FAILURE 33|SPGF33 OMIM:618152 owl:Class NCBITaxon:33347 biolink:NamedThing Euheteroptera tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33345 biolink:NamedThing Heteroptera tmpaxzxjjyw_mondo_relaxed.owl true bugs GC_ID:1 ncbi_taxonomy owl:Class UBERON:0011997 biolink:NamedThing coelom tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6307 biolink:NamedThing KDR tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011563 biolink:NamedThing Abnormal ventriculoarterial connection An abnormality of the circulatory connection between the ventricles and the pulmonary artery and aorta. tmpaxzxjjyw_mondo_relaxed.owl Abnormal ventriculo-arterial connection|Abnormal ventriculoarterial connexion UMLS:C4023296 The cardiac malformations with abnormal ventriculo-arterial connections in situs solitus and atrio-ventricular concordance include the tetralogy of Fallot as well as different forms of double-outlet right ventricle and transposition of the great arteries. peter 2012-04-08T07:32:38Z human_phenotype owl:Class HP:0011545 biolink:NamedThing Abnormal connection of the cardiac segments A deviance in the normal connections between two cardiac segements. tmpaxzxjjyw_mondo_relaxed.owl Abnormal connexion of the cardiac segments|Discordant connection of the cardiac segments UMLS:C4023306 peter 2012-04-07T11:24:25Z human_phenotype owl:Class MONDO:0009375 biolink:NamedThing hymen, imperforate tmpaxzxjjyw_mondo_relaxed.owl hymen, imperforate ICD9:752.42|OMIM:237100|ICD10:Q52.3|MESH:C562397|SCTID:65937002 owl:Class MONDO:0024483 biolink:NamedThing urothelial hyperplasia Hyperplasia of the transitional epithelium of the urinary tract. Morphologically it is subdivided into flat and papillary hyperplasia. -- 2003 tmpaxzxjjyw_mondo_relaxed.owl urothelium hyperplasia|urothelial hyperplasia NCIT:C27877 owl:Class CHEBI:50996 biolink:NamedThing tertiary amino compound A compound formally derived from ammonia by replacing three hydrogen atoms by organyl groups. tmpaxzxjjyw_mondo_relaxed.owl tertiary amino compounds owl:Class MONDO:0010768 biolink:NamedThing gonadoblastoma A mixed germ cell/sex cord-stromal tumor characterized by the presence of large germ cells which resemble seminoma cells and small cells which resemble Sertoli or granulosa cells. It occurs in the testis and the ovary and is identified in children and adults. It is often associated with gonadal dysgenesis and abnormal karyotype. tmpaxzxjjyw_mondo_relaxed.owl gonadoblastoma|gonad blastoma NCIT:C3754|ICD10:D39.1|ICDO:9073/1|DOID:3301|ONCOTREE:OGBL|MESH:D018238|UMLS:C0206661 owl:Class MONDO:0005565 biolink:NamedThing blastoma A malignant neoplasm composed of undifferentiated cells. tmpaxzxjjyw_mondo_relaxed.owl embryoma|blastoma NCIT:C8997|UMLS:C0936282|ICDO:8981/3|DOID:0070003|EFO:0005785 owl:Class MONDO:0001795 biolink:NamedThing plantar wart A wart in the plantar surface of the foot. It is caused by human papillomavirus. tmpaxzxjjyw_mondo_relaxed.owl plantar wart|verruca plantaris ICD10:B07.0|DOID:13775|SCTID:63440008|EFO:1002023|UMLS:C0042548|ICD9:078.12|NCIT:C26913 owl:Class MONDO:0100329 biolink:NamedThing primary viral infectious disease The initial viral infectious disase that causes illness. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2950 owl:Class MONDO:0007711 biolink:NamedThing Bencze syndrome Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979. tmpaxzxjjyw_mondo_relaxed.owl hemifacial hyperplasia with strabismus|hemifacial hyperplasia-strabismus syndrome|Bencze syndrome|hemifacial hyperplasia strabismus GARD:0002633|MESH:C564199|ICD10:Q67.4|UMLS:C1841640|SCTID:733046006|Orphanet:1241|OMIM:141350 https://rarediseases.info.nih.gov/diseases/2633/hemifacial-hyperplasia-strabismus owl:Class HGNC:9476 biolink:NamedThing HTRA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010532 biolink:NamedThing primitive nephron tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006555 biolink:NamedThing excretory tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:09000014 biolink:NamedThing amount of nitrogen atom in soil The amount of a nitrogen atom when measured in soil. tmpaxzxjjyw_mondo_relaxed.owl soil nitrogen atom amount owl:Class PATO:0000070 biolink:NamedThing amount The number of entities of this type that are part of the whole organism. tmpaxzxjjyw_mondo_relaxed.owl presence or absence in organism|number|quantitative|presence|count in organism owl:Class HP:0002795 biolink:NamedThing Abnormal respiratory system physiology tmpaxzxjjyw_mondo_relaxed.owl Abnormal respiration|Respiratory problem|Functional respiratory abnormality Fyler:4200|UMLS:C4025677 human_phenotype owl:Class HP:0002086 biolink:NamedThing Abnormality of the respiratory system An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. tmpaxzxjjyw_mondo_relaxed.owl Respiratory abnormality UMLS:C4018871 human_phenotype owl:Class MONDO:0002911 biolink:NamedThing brain stem glioma A neuroglial tumor that arises from the brain stem. tmpaxzxjjyw_mondo_relaxed.owl brainstem neuroglial tumor|glioma of brain stem|brain stem glioma|glioma of brainstem|malignant glioma of brainstem|brainstem glioma|brainstem malignant glioma|glioma of the brain stem|brain stem neuroglial neoplasm|brainstem neuroglial neoplasm|diffuse brainstem glioma|brain stem neuroglial tumor|glioma of the brainstem UMLS:C0677865|NCIT:C8501|SCTID:444545003|DOID:4202 owl:Class MONDO:0100342 biolink:NamedThing malignant glioma A grade III or grade IV glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma. tmpaxzxjjyw_mondo_relaxed.owl malignant neuroglial tumor|glial cell tumor|malignant neuroglial neoplasm|high grade glioma|glioma, malignant|high-grade glioma|malignant glioma|malignant glial neoplasm|malignant glial tumor|glioma|neuroglial tumor SCTID:393564001|KEGG:05214|UMLS:C0017638|MESH:D005910|ICDO:9380/3|DOID:3070|UMLS:C0555198|Orphanet:182067|MedDRA:10018338|NCIT:C4822|NCIT:C3059 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0013491 biolink:NamedThing cervical fascia tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003568 biolink:NamedThing neck connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010773 biolink:NamedThing myopathy and diabetes mellitus tmpaxzxjjyw_mondo_relaxed.owl mitochondrial myopathy, lipid type|mitochondrial myopathy with diabetes OMIM:500002|GARD:0003881|Orphanet:2596|MESH:C564026|ICD10:G71.3|UMLS:C1839028 owl:Class MONDO:0016794 biolink:NamedThing maternally-inherited mitochondrial myopathy tmpaxzxjjyw_mondo_relaxed.owl ICD10:G71.3|Orphanet:254788 owl:Class MONDO:0004148 biolink:NamedThing gallbladder papillary neoplasm with an associated invasive carcinoma An intraluminal papillary neoplasm, usually with high grade intraepithelial neoplasia, that arises from the gallbladder. It is associated with the presence of an invasive carcinoma. The carcinomatous component is usually an adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl intracystic papillary neoplasm with an associated invasive carcinoma|gallbladder papillary neoplasm with an associated invasive cancer|gallbladder papillary neoplasm with an associated invasive carcinoma|gall bladder papillary carcinoma|gallbladder papillary carcinoma|papillary carcinoma of the gallbladder|papillary carcinoma of gallbladder DOID:7221|NCIT:C5743|ICDO:8503/3|UMLS:C1333753 owl:Class MONDO:0002518 biolink:NamedThing gallbladder papillary neoplasm A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the gallbladder. Intraepithelial neoplasia is present. tmpaxzxjjyw_mondo_relaxed.owl gallbladder papillary neoplasm|intracystic papillary neoplasm|gall bladder papillary epithelial neoplasm|gallbladder papillomatosis NCIT:C7130|DOID:3120|UMLS:C1333754 owl:Class GO:0006744 biolink:NamedThing ubiquinone biosynthetic process The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. tmpaxzxjjyw_mondo_relaxed.owl coenzyme Q biosynthesis|ubiquinone biosynthesis|ubiquinone synthesis|coenzyme Q9 biosynthesis|ubiquinone formation|coenzyme Q8 biosynthesis|coenzyme Q8 biosynthetic process|coenzyme Q6 biosynthesis|ubiquinone anabolism|coenzyme Q10 biosynthesis|coenzyme Q6 biosynthetic process|coenzyme Q10 biosynthetic process|coenzyme Q biosynthetic process|coenzyme Q9 biosynthetic process owl:Class UBERON:0008810 biolink:NamedThing nasopalatine nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010677 biolink:NamedThing negative regulation of cellular carbohydrate metabolic process Any process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001874 biolink:NamedThing discoid A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter. tmpaxzxjjyw_mondo_relaxed.owl disc-shaped|disk-shaped owl:Class PATO:0001873 biolink:NamedThing cylindrical A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section. tmpaxzxjjyw_mondo_relaxed.owl tubulate|rod-like|rod-shaped owl:Class HP:0002979 biolink:NamedThing Bowing of the legs A bending or abnormal curvature affecting a long bone of the leg. tmpaxzxjjyw_mondo_relaxed.owl Bowed legs|Bow legs|Bowed lower limbs|Bow-leggedness UMLS:C0544755|SNOMEDCT_US:299331007|MSH:D056305 HP:0006428 human_phenotype owl:Class UBERON:0037447 biolink:NamedThing wall of male urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030701 biolink:NamedThing autoimmune cardiomyopathy An autoimmune form of cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl DOID:0040095 owl:Class MONDO:0000603 biolink:NamedThing autoimmune disorder of cardiovascular system A hypersensitivity reaction type II disease that involves the cardiovascular system. tmpaxzxjjyw_mondo_relaxed.owl cardiovascular system hypersensitivity reaction type II disease|cardiovascular system autoimmune disease DOID:0060051 owl:Class GO:0004252 biolink:NamedThing serine-type endopeptidase activity Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpaxzxjjyw_mondo_relaxed.owl serine elastase activity|blood coagulation factor activity owl:Class GO:0008236 biolink:NamedThing serine-type peptidase activity Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpaxzxjjyw_mondo_relaxed.owl serine protease activity owl:Class MONDO:0020063 biolink:NamedThing malformation syndrome with hamartosis tmpaxzxjjyw_mondo_relaxed.owl Dysmorphologic diseases with phakomatosis 2022-03-01 UMLS:CN206967|Orphanet:98196 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class MONDO:0011835 biolink:NamedThing sensory ataxic neuropathy, dysarthria, and ophthalmoparesis A syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. tmpaxzxjjyw_mondo_relaxed.owl sensory ataxic neuropathy, dysarthria, and ophthalmoparesis|epilepsy, progressive myoclonic, 5, formerly|progressive myoclonic epilepsy caused by mutation in PRICKLE2|sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome|SANDO|epilepsy, progressive myoclonic, 5|spinocerebellar ataxia with epilepsy|sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive|PRICKLE2 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, with sensory ataxic neuropathy|PME type 5|progressive myoclonus epilepsy type 5|EPM5|epilepsy, progressive myoclonic, type 5 GARD:0009998|Orphanet:70595|DOID:0111276|UMLS:C1843851|OMIM:613832|ICD10:G71.3|Orphanet:254881|OMIM:607459|Orphanet:402082|ICD10:G40.3|UMLS:C1843852|UMLS:CN226157 owl:Class MONDO:0016403 biolink:NamedThing mitochondrial disease with peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:225703|UMLS:CN201332 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class MONDO:0016950 biolink:NamedThing partial duplication of the short arm of chromosome 17 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome 17p|partial duplication of chromosome 17p|partial duplication of the short arm of chromosome type 17|partial trisomy of the short arm of chromosome 17 Orphanet:262803 owl:Class MONDO:0016935 biolink:NamedThing partial duplication of chromosome 17 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome 17|partial duplication of chromosome type 17 UMLS:C4518505|SCTID:726356000|Orphanet:262677 owl:Class HGNC:11098 biolink:NamedThing SMARCA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:3749 biolink:NamedThing Malus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:721813 biolink:NamedThing Maleae tmpaxzxjjyw_mondo_relaxed.owl Pyreae|Pyrodae GC_ID:1 NCBITaxon:721812 ncbi_taxonomy owl:Class PATO:0002011 biolink:NamedThing neoplastic A structural quality which is held by a bearer when the latter's disposition the presence of abnormally proliferating masses of cells. tmpaxzxjjyw_mondo_relaxed.owl tumorous owl:Class MONDO:0017077 biolink:NamedThing myelocystocele tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q05.0|SCTID:203994003|ICD10:Q05.2|ICD10:Q05.9|ICD10:Q05.6|ICD10:Q05.5|ICD10:Q05.3|ICD10:Q05.1|ICD10:Q05.8|ICD10:Q05.7|ICD10:Q05.4|Orphanet:268813 owl:Class MONDO:0017069 biolink:NamedThing spina bifida cystica A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface. tmpaxzxjjyw_mondo_relaxed.owl myelomeningocele|spina bifida, open|open spina bifida|spina bifida manifesta|spina bifida aperta|meningomyelocele MESH:D016137|ICD10:Q05.2|ICD10:Q05.0|ICD10:Q05.9|ICD10:Q05.6|Orphanet:268744|ICD10:Q05.5|ICD10:Q05.1|ICD10:Q05.3|ICD10:Q05.8|ICD10:Q05.7|ICD10:Q05.4|NCIT:C101201|MedDRA:10071011 owl:Class GO:1900373 biolink:NamedThing positive regulation of purine nucleotide biosynthetic process Any process that activates or increases the frequency, rate or extent of purine nucleotide biosynthetic processes. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of purine nucleotide anabolism|up-regulation of purine nucleotide formation|upregulation of purine nucleotide biosynthesis|up regulation of purine nucleotide biosynthetic process|up-regulation of purine nucleotide biosynthesis|upregulation of purine nucleotide synthesis|activation of purine nucleotide formation|up-regulation of purine nucleotide biosynthetic process|activation of purine nucleotide synthesis|up regulation of purine nucleotide formation|activation of purine nucleotide biosynthesis|activation of purine nucleotide biosynthetic process|positive regulation of purine nucleotide biosynthesis|positive regulation of purine nucleotide anabolism|positive regulation of purine nucleotide formation|up regulation of purine nucleotide anabolism|up regulation of purine nucleotide biosynthesis|activation of purine nucleotide anabolism|positive regulation of purine nucleotide synthesis|up-regulation of purine nucleotide synthesis|up regulation of purine nucleotide synthesis|upregulation of purine nucleotide anabolism|upregulation of purine nucleotide formation|upregulation of purine nucleotide biosynthetic process owl:Class GO:1900544 biolink:NamedThing positive regulation of purine nucleotide metabolic process Any process that activates or increases the frequency, rate or extent of purine nucleotide metabolic process. tmpaxzxjjyw_mondo_relaxed.owl upregulation of purine nucleotide metabolic process|up regulation of purine nucleotide metabolism|positive regulation of purine nucleotide metabolism|upregulation of purine nucleotide metabolism|activation of purine nucleotide metabolic process|up-regulation of purine nucleotide metabolism|activation of purine metabolic process|up-regulation of purine metabolic process|up regulation of purine nucleotide metabolic process|up regulation of purine metabolic process|positive regulation of purine metabolic process|positive regulation of purine metabolism|activation of purine nucleotide metabolism|activation of purine metabolism|up regulation of purine metabolism|upregulation of purine metabolism|up-regulation of purine nucleotide metabolic process|up-regulation of purine metabolism|upregulation of purine metabolic process owl:Class NCBITaxon:848 biolink:NamedThing Fusobacterium tmpaxzxjjyw_mondo_relaxed.owl Fusibacterium GC_ID:11|PMID:11931161|PMID:1715737 ncbi_taxonomy owl:Class NCBITaxon:203492 biolink:NamedThing Fusobacteriaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0017551 biolink:NamedThing humero-radial synostosis, bilateral tmpaxzxjjyw_mondo_relaxed.owl humero-radial fusion, bilateral ICD10:Q74.0|Orphanet:295211 owl:Class MONDO:0007737 biolink:NamedThing humeroradial synostosis Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present. tmpaxzxjjyw_mondo_relaxed.owl humeroradial synostosis|humeroradial synostosis (disease)|humero-radial fusion|humero-radial synostosis humeroradial synostosis (disease) HP:0003041|OMIM:143050|Orphanet:3265|ICD9:755.59|OMIM:236400|ICD10:Q74.0|GARD:0002748|DOID:0060467|SCTID:205329008 owl:Class MONDO:0009841 biolink:NamedThing PEHO syndrome PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. tmpaxzxjjyw_mondo_relaxed.owl peho-like syndrome|peho syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile Cerebellooptic atrophy|peho|progressive encephalopathy-optic atrophy syndrome UMLS:C1850055|OMIM:260565|ICD10:G31.8|DOID:0080539|GARD:0004264|MESH:C536317|Orphanet:99807|Orphanet:2836 https://rarediseases.info.nih.gov/diseases/4264/peho-syndrome owl:Class GO:2000350 biolink:NamedThing positive regulation of CD40 signaling pathway Any process that activates or increases the frequency, rate or extent of signaling via the CD40 signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of CD40 signalling pathway owl:Class MONDO:0006438 biolink:NamedThing synovial chondromatosis Synovial chondromatosis is a type of non-cancerous tumor that arises in the lining of a joint. The knee is most commonly affected, however it can affect any joint. The tumors begin as small nodules of cartilage. These nodules can separate and become loose within the joint. Some tumors may be no larger than a grain of rice. Synovial chondromatosis most commonly occurs in adults ages 20 to 50. Signs and symptoms may include pain, swelling, a decreased range of motion, and locking of the joint. The exact underlying cause of the condition is unknown. Treatment may involve surgery to remove the tumor. Recurrence of the condition is common. tmpaxzxjjyw_mondo_relaxed.owl Reichel's syndrome|synovial osteochondromatosis|Henderson-Jones syndrome NCIT:C34467|GARD:0006054|MESH:D015838|EFO:1000557|UMLS:C0008476 https://rarediseases.info.nih.gov/diseases/6054/synovial-chondromatosis owl:Class CL:0002584 biolink:NamedThing renal cortical epithelial cell An epithelial cell of the kidney cortex. tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001016 cell owl:Class CL:0002518 biolink:NamedThing kidney epithelial cell An epithelial cell of the kidney. tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001019 tmeehan 2011-02-08T10:46:34Z cell owl:Class UBERON:0001091 biolink:NamedThing calcareous tooth tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003913 biolink:NamedThing tooth-like structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004807 biolink:NamedThing respiratory system epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003118 biolink:NamedThing testicular Brenner tumor An uncommon usually benign neoplasm that arises from the testis. It is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. tmpaxzxjjyw_mondo_relaxed.owl testes, rudimentary Brenner tumor|testis Brenner tumor UMLS:C1515281|DOID:4739|NCIT:C39953 owl:Class MONDO:0021348 biolink:NamedThing neoplasm of testis A neoplasm (disease) that involves the testis. tmpaxzxjjyw_mondo_relaxed.owl testicular neoplasm|tumor of the testis|neoplasm of the testis|testicular tumor|testis neoplasm|tumor of testis|testis neoplasm (disease)|neoplasm of testis|testis tumor ONCOTREE:TESTIS|ICD9:239.5|NCIT:C3404|SCTID:126900000|EFO:0004281 owl:Class GO:0045892 biolink:NamedThing negative regulation of transcription, DNA-templated Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of transcription, DNA-dependent|down-regulation of gene-specific transcription|downregulation of gene-specific transcription|transcription repressor activity|down-regulation of transcription, DNA-dependent|downregulation of transcription, DNA-dependent|down regulation of gene-specific transcription|negative regulation of gene-specific transcription|inhibition of gene-specific transcription|inhibition of transcription, DNA-dependent|down regulation of transcription, DNA-dependent|negative regulation of cellular transcription, DNA-dependent owl:Class MONDO:0021299 biolink:NamedThing carcinoma in situ of extrahepatic bile duct A in situ carcinoma that involves the extrahepatic bile duct. tmpaxzxjjyw_mondo_relaxed.owl carcinoma in situ of extrahepatic biliary ducts|carcinoma in situ of extrahepatic bile duct|extrahepatic biliary duct carcinoma in situ|extrahepatic bile duct carcinoma in situ|stage 0 extrahepatic bile duct carcinoma|extrahepatic bile duct in situ carcinoma|stage 0 carcinoma of the extrahepatic bile duct|stage 0 carcinoma of extrahepatic bile duct|carcinoma in situ of the extrahepatic bile duct|stage 0 extrahepatic bile duct carcinoma in situ|carcinoma in situ of extrahepatic bile ducts|stage 0 extrahepatic bile duct cancer|extrahepatic bile duct cancer stage 0 SCTID:92589000|NCIT:C4442|UMLS:C0345914 owl:Class MONDO:0060760 biolink:NamedThing intellectual developmental disorder with dysmorphic facies and behavioral abnormalities tmpaxzxjjyw_mondo_relaxed.owl IDDFBA|INTELLECTUAL developmental disorder with DYSMORPHIC facies and behavioral abnormalities OMIM:618089 owl:Class HGNC:2682 biolink:NamedThing DAZ1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031399 biolink:NamedThing regulation of protein modification process Any process that modulates the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018623 biolink:NamedThing postpartum psychosis Postpartum psychosis is a rare psychiatric emergency in which symptoms of high mood and racing thoughts (mania), depression, severe confusion, loss of inhibition, paranoia, hallucinations and delusions set in, beginning suddenly in the first two weeks after childbirth. The symptoms vary and can change quickly. tmpaxzxjjyw_mondo_relaxed.owl puerperal psychosis ICD10:F53|Orphanet:443173|ICD9:648.44|ICD10:F53.1|SCTID:18260003 MONDO:0024269 owl:Class UBERON:0004417 biolink:NamedThing proximal epiphysis of phalanx of manual digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004414 biolink:NamedThing proximal epiphysis of phalanx of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017785 biolink:NamedThing PENS syndrome PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported. tmpaxzxjjyw_mondo_relaxed.owl papular epidermal nevi with skyline basal cell layers syndrome Orphanet:313936|UMLS:CN203735 owl:Class UBERON:0001049 biolink:NamedThing neural tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0090023 biolink:NamedThing positive regulation of neutrophil chemotaxis Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021487 biolink:NamedThing benign neoplasm of choroid A benign neoplasm that involves the optic choroid. tmpaxzxjjyw_mondo_relaxed.owl benign choroid tumor|optic choroid benign neoplasm|benign tumor of choroid|benign tumor of the choroid|benign choroid neoplasm|benign neoplasm of the choroid NCIT:C3625|UMLS:C0154028|SCTID:92059004|ICD9:224.6 owl:Class MONDO:0021454 biolink:NamedThing benign neoplasm of eye A benign neoplasm that involves the eye. tmpaxzxjjyw_mondo_relaxed.owl benign eye tumor|benign eye neoplasm|benign neoplasm of the eye|benign ocular neoplasm|benign ocular tumor|benign tumor of the eye|benign tumor of eye|eye benign neoplasm SCTID:92097004|ICD9:224.8|NCIT:C4780|ICD9:224.9|UMLS:C0496897|ICD9:224.0 owl:Class MONDO:0033374 biolink:NamedThing developmental and epileptic encephalopathy, 65 tmpaxzxjjyw_mondo_relaxed.owl EIEE65|DEE65|epileptic encephalopathy, early infantile, 65 UMLS:CN248516|DOID:0080430|OMIM:618008 owl:Class UBERON:0004064 biolink:NamedThing neural tube basal plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007297 biolink:NamedThing presumptive pronephric mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:50249 biolink:NamedThing anticoagulant An agent that prevents blood clotting. tmpaxzxjjyw_mondo_relaxed.owl anticoagulants|anticoagulante owl:Class CHEBI:50248 biolink:NamedThing hematologic agent Drug that acts on blood and blood-forming organs and those that affect the hemostatic system. tmpaxzxjjyw_mondo_relaxed.owl hematologic agents owl:Class MONDO:0022496 biolink:NamedThing arthrogryposis IUGR thoracic dystrophy A syndrome characterized by severe intrauterine growth retardation, psychomotor delay and recurrent infections, craniofacial dysostosis, a progeroid appearance, arthrogryposis and camptodactylia. tmpaxzxjjyw_mondo_relaxed.owl Van Bervliet syndrome GARD:0000782 https://rarediseases.info.nih.gov/diseases/782/arthrogryposis-iugr-thoracic-dystrophy owl:Class MONDO:0003454 biolink:NamedThing conjunctival cancer A malignant neoplasm involving the conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of the conjunctiva|malignant conjunctiva tumor|cancer of conjunctiva|conjunctival tumor|malignant tumor of conjunctiva|malignant neoplasm of conjunctiva (primary)|malignant conjunctival tumor|malignant neoplasm of the conjunctiva|malignant neoplasm of conjunctiva|malignant conjunctiva neoplasm|conjunctiva cancer|malignant conjunctival neoplasm NCIT:C3564|DOID:5467|ICD9:190.3|ICD10:C69.0|SCTID:363463000|NCIT:C2961 owl:Class HGNC:9067 biolink:NamedThing PLD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011342 biolink:NamedThing SLC35A1-CDG SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. tmpaxzxjjyw_mondo_relaxed.owl CDG syndrome type IIf|congenital disorder of glycosylation, type IIf|SLC35A1-CDG (CDG-IIf)|carbohydrate deficient glycoprotein syndrome type IIf|CDG2F|CDG IIf|congenital disorder of glycosylation type IIf|CDG-IIf|congenital disorder of glycosylation type 2f|CMP-sialic acid transporter deficiency DOID:0070258|Orphanet:238459|SCTID:723624008|GARD:0012409|UMLS:C1970344|MESH:C567040|ICD10:E77.8|OMIM:603585 owl:Class MONDO:0017749 biolink:NamedThing disorder of multiple glycosylation tmpaxzxjjyw_mondo_relaxed.owl ICD10:E77.8|Orphanet:309526|UMLS:CN227195 owl:Class MONDO:0005711 biolink:NamedThing congenital diaphragmatic hernia Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality. tmpaxzxjjyw_mondo_relaxed.owl CDH|unilateral agenesis of diaphragm|diaphragmatic hernia|congenital diaphragmatic hernia|agenesis of hemidiaphragm|congenital diaphragmatic defect Orphanet:2140|GARD:0001481|DOID:3827|NCIT:C98893|UMLS:C0235833|OMIM:222400|EFO:0007216|ICD10:K44|OMIM:142340|MedDRA:10010439|ICD10:K44.9|ICD10:Q79.0|OMIM:610187|OMIM:306950 owl:Class MONDO:0002441 biolink:NamedThing Jervell and Lange-Nielsen syndrome An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome. tmpaxzxjjyw_mondo_relaxed.owl deafness, congenital, and functional heart disease|Cardioauditory syndrome of Jervell and Lange-Nielsen|Jervell and Lange-Nielsen syndrome type 1|Surdo-cardiac syndrome|JLNS1|Jervell Lange-Nielsen syndrome|Jervell and Lange-Nielsen syndrome 1|Jervell and Lange Nielsen syndrome|Jervell-Lange Nielsen syndrome|long QT interval-deafness syndrome|prolonged QT interval in EKG and sudden death|Jervell and Lange-Nielson syndrome OMIMPS:220400|MedDRA:10057936|NCIT:C84793|OMIM:612347|OMIM:220400|GARD:0003048|SCTID:373905003|UMLS:C0022387|MESH:D029593|DOID:2842|Orphanet:90647|ICD10:I45.8|Orphanet:768 https://rarediseases.info.nih.gov/diseases/3048/jervell-lange-nielsen-syndrome owl:Class GO:0006695 biolink:NamedThing cholesterol biosynthetic process The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpaxzxjjyw_mondo_relaxed.owl cholesterol synthesis|cholesterol formation|cholesterol biosynthesis|cholesterol anabolism owl:Class GO:0008203 biolink:NamedThing cholesterol metabolic process The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. tmpaxzxjjyw_mondo_relaxed.owl cholesterol metabolism owl:Class OBO:CHR_9606-chr1q41-q42 biolink:NamedThing 1q41-q42 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0003258 biolink:NamedThing hobnail hemangioma A hemangioma characterized by the presence of hobnail endothelial cells. tmpaxzxjjyw_mondo_relaxed.owl hobnail hemangioma|Targetoid Hemosiderotic hemangioma UMLS:C0346076|DOID:505|NCIT:C27506|SCTID:254790003 owl:Class CL:0002564 biolink:NamedThing nucleus pulposus cell of intervertebral disc A connective tissue cell of the nucleus pulposus cell of intervertebral disc. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-02T02:12:23Z cell owl:Class CL:0002320 biolink:NamedThing connective tissue cell A cell of the supporting or framework tissue of the body, arising chiefly from the embryonic mesoderm and including adipose tissue, cartilage, and bone. tmpaxzxjjyw_mondo_relaxed.owl FMA:63875|CALOHA:TS-2096 tmeehan 2010-09-15T03:01:54Z CL:1000406 cell owl:Class MONDO:0019414 biolink:NamedThing BRESEK syndrome X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). tmpaxzxjjyw_mondo_relaxed.owl BRESHECK syndrome MESH:C564519|UMLS:C3502469|OMIM:308205|ICD10:Q87.8|SCTID:717945001|Orphanet:85284 owl:Class HP:0005541 biolink:NamedThing Congenital agranulocytosis Congenital onset of a marked decrease in the number of granulocytes. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853118|MSH:C537592|SNOMEDCT_US:89655007 human_phenotype owl:Class MONDO:0018231 biolink:NamedThing primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments tmpaxzxjjyw_mondo_relaxed.owl primary skeletal dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments|primary osteodysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments 2022-01-01 Orphanet:364531 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class MONDO:0010903 biolink:NamedThing craniosynostosis, Adelaide type tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis, Adelaide type|CRSA OMIM:600593|MESH:C563471|UMLS:C1833578 owl:Class UBERON:0035489 biolink:NamedThing branch of basilar artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0000300 biolink:NamedThing recombination_feature_of_rearranged_gene A location where a gene is rearranged due to recombination during mitosis or meiosis. tmpaxzxjjyw_mondo_relaxed.owl recombination feature of rearranged gene owl:Class SO:0000299 biolink:NamedThing specific_recombination_site A location where recombination or occurs during mitosis or meiosis. tmpaxzxjjyw_mondo_relaxed.owl specific recombination site owl:Class MONDO:0043089 biolink:NamedThing acute posterior multifocal placoid pigment epitheliopathy Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired, inflammatory eye condition affecting the retina, retinal pigment epithelium (pigmented layer of the retina), and choroid. It usually affects both eyes and is characterized by multiple, yellow-white lesions in the back of the eye. The condition can significantly impair visual acuity if the macula is involved. APMPPE typically resolves on its own in weeks to months. While the cause is unknown, about a third of cases appear to develop after a flu-like illness. Non-ocular symptoms are uncommon, but cerebral vasculitis can be present and may cause permanent and/or severe neurological complications. tmpaxzxjjyw_mondo_relaxed.owl epitheliopathy, acute posterior multifocal placoid pigment|APMPPE|apmppe|acute posterior multifocal placoid pigment epitheliopathy|pigment epitheliopathy, disseminated retinitis and retinochoroiditis|acute multifocal placoid pigment epitheliopathy|AMPPE|multifocal placoid pigment epitheliopathy|amppe - acute multifocal placoid pigment epitheliopathy|acute placoid pigment epitheliopathy UMLS:C0154884|SCTID:89188001|GARD:0002183 owl:Class MONDO:0023833 biolink:NamedThing multifocal choroiditis Multifocal choroiditis (MFC) is an inflammatory disorder characterized by swelling of the eye (called uveitis) and multiple lesions in the choroid, a layer of blood vessels between the white of the eye and the retina. Symptoms include blurry vision, floaters, sensitivity to light, blind spots and mild eye discomfort. Though the cause is unknown, multifocal choroiditis is seen most frequently in women ages 20 to 60, and usually affects both eyes. MFC is generally treated with steroid medication that can be taken orally or injected into the eye. Multifocal choroiditis is a chronic condition, thus symptoms may return or worsen even after successful treatment. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1533060|MESH:C537374|GARD:0009824|SCTID:414783007 https://rarediseases.info.nih.gov/diseases/9824/multifocal-choroiditis owl:Class MONDO:0022380 biolink:NamedThing acute lymphoblastic leukemia congenital sporadic aniridia A disease characterized by acute lymphoblastic leukemia with the presence of congenital sporadic aniridia, the absence of an iris, where neither parent has aniridia. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000523 https://rarediseases.info.nih.gov/diseases/523/acute-lymphoblastic-leukemia-congenital-sporadic-aniridia owl:Class SO:0000655 biolink:NamedThing ncRNA An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product. tmpaxzxjjyw_mondo_relaxed.owl noncoding RNA|INSDC_qualifier:other|known_ncrna owl:Class SO:0000233 biolink:NamedThing mature_transcript A transcript which has undergone the necessary modifications, if any, for its function. In eukaryotes this includes, for example, processing of introns, cleavage, base modification, and modifications to the 5' and/or the 3' ends, other than addition of bases. In bacteria functional mRNAs are usually not modified. tmpaxzxjjyw_mondo_relaxed.owl mature transcript owl:Class UBERON:0012175 biolink:NamedThing acoustico-facial VII-VIII ganglion complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010313 biolink:NamedThing neural crest-derived structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009506 biolink:NamedThing mesenchyme of middle ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010629 biolink:NamedThing negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020312 biolink:NamedThing atypical chronic myeloid leukemia tmpaxzxjjyw_mondo_relaxed.owl aCML|subacute myeloid leukemia|subacute granulocytic leukemia|atypical chronic myeloid leukemia BCR-ABL1 negative|atypical CML ICD10:C92.2|MedDRA:10054651|NCIT:C3519|Orphanet:98824|DOID:0060597 Editor note: consider merge with MONDO:0004653 owl:Class MONDO:0020077 biolink:NamedThing myelodysplastic/myeloproliferative disease Clonal myeloid disorders that possess both dysplastic and proliferative features but are not properly classified as either MYELODYSPLASTIC SYNDROMES or MYELOPROLIFERATIVE disorderS. tmpaxzxjjyw_mondo_relaxed.owl MESH:D054437|GARD:0009351|Orphanet:98275 owl:Class MONDO:0004934 biolink:NamedThing periostitis Inflammation of the periosteum. The condition is generally chronic, and is marked by tenderness and swelling of the bone and an aching pain. Acute periostitis is due to infection, is characterized by diffuse suppuration, severe pain, and constitutional symptoms, and usually results in necrosis. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl periosteum|periosteum inflammation|periostitis|periostitis (disease)|inflammation of periosteum periostitis (disease) HP:0040165|NCIT:C13184|SCTID:41910004|MESH:D010522|DOID:9957|UMLS:C0031111 owl:Class MONDO:0002027 biolink:NamedThing avoidant personality disorder A disorder characterized by an enduring pattern of avoidance of social situations and interpersonal contact due to overwhelming feelings of social inadequacy and a hypersensitivity to negative evaluation or rejection. tmpaxzxjjyw_mondo_relaxed.owl anxious personality disorder DOID:1509|SCTID:231528008|NCIT:C92636|ICD9:301.82|ICD10:F60.6 owl:Class MONDO:0019715 biolink:NamedThing syndrome with synostosis or other joint formation defect tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN206620|Orphanet:93459 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class UBERON:0003857 biolink:NamedThing upper eyelid mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010330 biolink:NamedThing eyelid mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006463 biolink:NamedThing thyroid gland mucoepidermoid carcinoma A primary, low grade carcinoma of the thyroid gland composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. Prominent cystic structures may be present. The clinical course is usually indolent. tmpaxzxjjyw_mondo_relaxed.owl mucoepidermoid thyroid carcinoma|mucoepidermoid thyroid gland carcinoma|thyroid gland mucoepidermoid carcinoma UMLS:C1513721|NCIT:C38762|EFO:1000590|DOID:4687 owl:Class MONDO:0024622 biolink:NamedThing thyroid gland adenocarcinoma An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation). tmpaxzxjjyw_mondo_relaxed.owl thyroid gland adenocarcinoma|thyroid adenocarcinoma NCIT:C27380|DOID:0080524 owl:Class MONDO:0018953 biolink:NamedThing parietal foramina Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies. tmpaxzxjjyw_mondo_relaxed.owl catlin marks|foramina parietalia permagna|symmetric parietal foramina|parietal foramina|enlarged parietal foramina|hereditary cranium bifidum|fenestrae parietales symmetricae|Caitlin marks OMIMPS:168500|OMIM:168500|ICD10:Q75.8|HP:0002697|SCTID:718099006|Orphanet:60015|MESH:C566826|OMIM:609597|OMIM:609566|DOID:0060285 owl:Class MONDO:0021088 biolink:NamedThing papillary meningioma A WHO grade III meningioma characterized by the predominance of a perivascular pseudopapillary pattern. tmpaxzxjjyw_mondo_relaxed.owl papillary meningioma UMLS:C3163622|ICDO:9538/3|ONCOTREE:PPM|NCIT:C3904 owl:Class MONDO:0032706 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 27 tmpaxzxjjyw_mondo_relaxed.owl SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27|SCAR27 DOID:0111616|OMIM:618369 owl:Class MONDO:0019804 biolink:NamedThing tracheomalacia Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months. tmpaxzxjjyw_mondo_relaxed.owl type 1 tracheomalacia|congenital tracheomalacia|congenital major airway collapse|tracheomalacia, congenital UMLS:C0948187|NCIT:C98634|Orphanet:95430|HP:0002779|ICD9:748.3|DOID:0060313|MedDRA:10010654|ICD10:Q32.0|SCTID:95467005|GARD:0010515 owl:Class MONDO:0015505 biolink:NamedThing tracheal anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156252 owl:Class UBERON:0004119 biolink:NamedThing endoderm-derived structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002056 biolink:NamedThing breast fibroadenoma A benign tumor of the breast characterized by the presence of stromal and epithelial elements. It presents as a painless, solitary, slow growing, firm, and mobile mass. It is the most common benign breast lesion. It usually occurs in women of childbearing age. The majority of fibroadenomas do not recur after complete excision. A slightly increased risk of developing cancer within fibroadenomas or in the breast tissue of patients previously treated for fibroadenomas has been reported. tmpaxzxjjyw_mondo_relaxed.owl breast fibroadenoma|juvenile fibroadenoma|fibroadenoma of breast|fibroadenoma of the breast|Complex fibroadenoma of breast|FA|juvenile fibroadenoma of breast|fibroadenoma, benign|fibroadenoma|juvenile fibroadenoma (morphologic abnormality)|cellular fibroadenoma ICD10:D24|UMLS:C0346158|UMLS:C0178421|NCIT:C3744|UMLS:C0206650|MESH:D018226|EFO:1000254|ONCOTREE:FA|SCTID:254847007|ICDO:9010/0|DOID:1618 owl:Class MONDO:0009768 biolink:NamedThing oculodentodigital dysplasia, autosomal recessive Autosomal recessive form of oculodentodigital dysplasia. tmpaxzxjjyw_mondo_relaxed.owl ODDD, autosomal recessive|oculodentodigital dysplasia, autosomal recessive|ODOD recessive|oculodentoosseous dysplasia recessive|autosomal recessive oculodentodigital dysplasia|oculodentoosseous dysplasia, autosomal recessive|ODOD, autosomal recessive Orphanet:2710|UMLS:C2749477|OMIM:257850|MESH:C567605|GARD:0004045 owl:Class GO:1903786 biolink:NamedThing regulation of glutathione biosynthetic process Any process that modulates the frequency, rate or extent of glutathione biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of glutathione formation|regulation of glutathione anabolism|regulation of glutathione biosynthesis|regulation of glutathione synthesis owl:Class MONDO:0005694 biolink:NamedThing cecal neoplasm A benign or malignant neoplasm that affects the cecum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Cecal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpaxzxjjyw_mondo_relaxed.owl cecum neoplasm|tumor of the cecum|neoplasm of cecum|tumor of caecum|tumor of cecum|caecum neoplasm|caecum neoplasm (disease)|neoplasm of the cecum|neoplasm of caecum|caecum tumor|cecal benign neoplasm|cecum tumor DOID:1517|UMLS:C0007528|MESH:D002430|EFO:0007197|NCIT:C4433|SCTID:126839008 owl:Class MONDO:0033668 biolink:NamedThing hearing loss, autosomal dominant 79 tmpaxzxjjyw_mondo_relaxed.owl DFNA79|deafness, autosomal dominant 79 OMIM:619086 owl:Class NCBITaxon:10374 biolink:NamedThing Gammaherpesvirinae tmpaxzxjjyw_mondo_relaxed.owl lymphoproliferative virus group|Gammaherpesviruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10292 biolink:NamedThing Herpesviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000552 biolink:NamedThing breast lobular carcinoma An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of lobule of mammary gland|lobule of mammary gland carcinoma|lobular carcinoma of the breast|lobular breast carcinoma|lobular adenocarcinoma|lobular carcinoma|lobular carcinoma of breast DOID:0050938|NCIT:C3771|EFO:0008509|SCTID:278054005|UMLS:C0206692|ICDO:8520/3 owl:Class MONDO:0004988 biolink:NamedThing breast adenocarcinoma A carcinoma that arises from glandular epithelial cells of the breast tmpaxzxjjyw_mondo_relaxed.owl mammary adenocarcinoma|adenocarcinoma of breast|breast adenocarcinoma|adenocarcinoma of the breast DOID:3458|NCIT:C5214|EFO:0000304 owl:Class MONDO:0700001 biolink:NamedThing shrinking lung syndrome A rare pulmonary complication of an underlying autoimmune disorder that is reported in association with systemic lupus erythematosus (SLE). Reduced lung volumes result in restrictive ventilatory defect and a preserved carbon monoxide transfer coefficient. tmpaxzxjjyw_mondo_relaxed.owl shrinking of the lung|SLS|small lungs Chest x-ray often shows small but clear lungs. It is mostly presented in combination with diaphragmatic elevation and occasional basal atelectasis. http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0003772 biolink:NamedThing cerebral meningioma A meningioma that affects the cerebral hemispheres. tmpaxzxjjyw_mondo_relaxed.owl meningioma of cerebrum|cerebral hemispheric meningioma|meningioma (disease) of telencephalon|meningioma of cerebral hemispheres|meningioma of the cerebrum|meningioma of the cerebral hemispheres|telencephalon meningioma (disease) UMLS:C0542564|NCIT:C4807|DOID:6112|SCTID:189164002 owl:Class GO:1902339 biolink:NamedThing positive regulation of apoptotic process involved in morphogenesis Any process that activates or increases the frequency, rate or extent of apoptotic process involved in morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of morphogenetic apoptosis|upregulation of apoptotic process involved in morphogenesis|positive regulation of apoptosis involved in development|up-regulation of morphogenetic apoptosis|upregulation of morphogenetic apoptosis|up-regulation of apoptosis involved in morphogenesis|activation of apoptosis involved in morphogenesis|up regulation of apoptosis involved in development|upregulation of apoptosis involved in development|up regulation of morphogenetic apoptosis|activation of morphogenetic apoptosis|up-regulation of apoptosis involved in development|activation of apoptosis involved in development|positive regulation of apoptosis involved in morphogenesis|up-regulation of apoptotic process involved in morphogenesis|up regulation of apoptotic process involved in morphogenesis|activation of apoptotic process involved in morphogenesis|up regulation of apoptosis involved in morphogenesis|upregulation of apoptosis involved in morphogenesis owl:Class GO:1904747 biolink:NamedThing positive regulation of apoptotic process involved in development Any process that activates or increases the frequency, rate or extent of apoptotic process involved in development. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of induction of apoptosis by p53 involved in anatomical structure development|up regulation of apoptotic process involved in anatomical structure development|activation of apoptotic programmed cell death involved in anatomical structure development|up regulation of apoptotic process involved in development|up-regulation of apoptosis involved in anatomical structure development|up regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|positive regulation of induction of apoptosis involved in development of an anatomical structure|up regulation of programmed cell death by apoptosis involved in anatomical structure development|activation of induction of apoptosis by p53 involved in anatomical structure development|up regulation of apoptosis involved in development of an anatomical structure|up-regulation of apoptotic process involved in development|upregulation of programmed cell death by apoptosis involved in development of an anatomical structure|positive regulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of apoptotic cell death involved in development of an anatomical structure|up-regulation of apoptosis signaling involved in anatomical structure development|positive regulation of apoptosis signaling involved in anatomical structure development|upregulation of apoptotic process involved in development of an anatomical structure|activation of signaling (initiator) caspase activity involved in development of an anatomical structure|upregulation of apoptotic cell death involved in development of an anatomical structure|upregulation of activation of apoptosis involved in development of an anatomical structure|upregulation of apoptosis activator activity involved in development of an anatomical structure|activation of induction of apoptosis by p53 involved in development of an anatomical structure|up-regulation of apoptotic cell death involved in development of an anatomical structure|up regulation of apoptotic programmed cell death involved in anatomical structure development|activation of signaling (initiator) caspase activity involved in anatomical structure development|up-regulation of apoptotic program involved in anatomical structure development|upregulation of apoptotic process involved in anatomical structure development|up-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|activation of apoptosis involved in anatomical structure development|activation of type I programmed cell death involved in development of an anatomical structure|positive regulation of apoptosis activator activity involved in development of an anatomical structure|up-regulation of apoptosis signaling involved in development of an anatomical structure|up regulation of induction of apoptosis by p53 involved in anatomical structure development|activation of activation of apoptosis involved in anatomical structure development|positive regulation of apoptosis activator activity involved in anatomical structure development|upregulation of commitment to apoptosis involved in anatomical structure development|upregulation of apoptosis signaling involved in development of an anatomical structure|up-regulation of apoptosis activator activity involved in anatomical structure development|up-regulation of commitment to apoptosis involved in development of an anatomical structure|upregulation of apoptosis involved in development of an anatomical structure|positive regulation of induction of apoptosis by p53 involved in anatomical structure development|up-regulation of signaling (initiator) caspase activity involved in anatomical structure development|activation of apoptosis activator activity involved in anatomical structure development|up regulation of programmed cell death by apoptosis involved in development of an anatomical structure|up regulation of type I programmed cell death involved in anatomical structure development|positive regulation of apoptosis involved in anatomical structure development|positive regulation of apoptosis signaling involved in development of an anatomical structure|positive regulation of apoptotic cell death involved in anatomical structure development|up-regulation of apoptotic programmed cell death involved in anatomical structure development|activation of apoptosis activator activity involved in development of an anatomical structure|activation of apoptosis involved in development of an anatomical structure|positive regulation of apoptotic program involved in development of an anatomical structure|up regulation of commitment to apoptosis involved in anatomical structure development|up-regulation of commitment to apoptosis involved in anatomical structure development|positive regulation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of type I programmed cell death involved in development of an anatomical structure|positive regulation of type I programmed cell death involved in anatomical structure development|upregulation of type I programmed cell death involved in development of an anatomical structure|up-regulation of induction of apoptosis involved in development of an anatomical structure|up regulation of activation of apoptosis involved in anatomical structure development|positive regulation of induction of apoptosis involved in anatomical structure development|upregulation of induction of apoptosis by p53 involved in development of an anatomical structure|up-regulation of apoptotic program involved in development of an anatomical structure|positive regulation of type I programmed cell death involved in development of an anatomical structure|activation of apoptotic process involved in anatomical structure development|activation of apoptotic process involved in development of an anatomical structure|up regulation of induction of apoptosis involved in anatomical structure development|activation of activation of apoptosis involved in development of an anatomical structure|upregulation of activation of apoptosis involved in anatomical structure development|upregulation of apoptosis signaling involved in anatomical structure development|upregulation of apoptosis activator activity involved in anatomical structure development|upregulation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of apoptotic process involved in development of an anatomical structure|activation of programmed cell death by apoptosis involved in anatomical structure development|up regulation of apoptosis activator activity involved in anatomical structure development|up regulation of activation of apoptosis involved in development of an anatomical structure|activation of type I programmed cell death involved in anatomical structure development|up regulation of signaling (initiator) caspase activity involved in anatomical structure development|positive regulation of apoptosis involved in development of an anatomical structure|positive regulation of activation of apoptosis involved in anatomical structure development|positive regulation of activation of apoptosis involved in development of an anatomical structure|upregulation of apoptotic program involved in development of an anatomical structure|up regulation of apoptosis signaling involved in development of an anatomical structure|up-regulation of type I programmed cell death involved in anatomical structure development|upregulation of apoptosis involved in anatomical structure development|activation of apoptotic programmed cell death involved in development of an anatomical structure|up regulation of commitment to apoptosis involved in development of an anatomical structure|upregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|activation of commitment to apoptosis involved in anatomical structure development|upregulation of induction of apoptosis involved in development of an anatomical structure|positive regulation of commitment to apoptosis involved in anatomical structure development|up-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|upregulation of apoptotic program involved in anatomical structure development|positive regulation of apoptotic programmed cell death involved in anatomical structure development|positive regulation of induction of apoptosis by p53 involved in development of an anatomical structure|activation of apoptosis signaling involved in development of an anatomical structure|positive regulation of apoptotic process involved in anatomical structure development|up-regulation of induction of apoptosis involved in anatomical structure development|up regulation of apoptotic cell death involved in anatomical structure development|up-regulation of activation of apoptosis involved in development of an anatomical structure|activation of programmed cell death by apoptosis involved in development of an anatomical structure|upregulation of type I programmed cell death involved in anatomical structure development|positive regulation of apoptotic program involved in anatomical structure development|upregulation of apoptotic cell death involved in anatomical structure development|up-regulation of apoptosis involved in development of an anatomical structure|up regulation of apoptosis involved in anatomical structure development|positive regulation of programmed cell death by apoptosis involved in development of an anatomical structure|activation of induction of apoptosis involved in anatomical structure development|upregulation of signaling (initiator) caspase activity involved in anatomical structure development|activation of induction of apoptosis involved in development of an anatomical structure|activation of commitment to apoptosis involved in development of an anatomical structure|up regulation of induction of apoptosis by p53 involved in development of an anatomical structure|up-regulation of programmed cell death by apoptosis involved in anatomical structure development|upregulation of apoptotic programmed cell death involved in anatomical structure development|up regulation of apoptotic program involved in development of an anatomical structure|up regulation of induction of apoptosis involved in development of an anatomical structure|upregulation of commitment to apoptosis involved in development of an anatomical structure|up-regulation of apoptotic cell death involved in anatomical structure development|positive regulation of signaling (initiator) caspase activity involved in anatomical structure development|up-regulation of apoptosis activator activity involved in development of an anatomical structure|up regulation of apoptotic program involved in anatomical structure development|activation of apoptotic program involved in development of an anatomical structure|up regulation of apoptosis activator activity involved in development of an anatomical structure|activation of apoptotic cell death involved in anatomical structure development|up-regulation of apoptotic process involved in anatomical structure development|positive regulation of apoptotic cell death involved in development of an anatomical structure|up-regulation of activation of apoptosis involved in anatomical structure development|positive regulation of commitment to apoptosis involved in development of an anatomical structure|activation of apoptosis signaling involved in anatomical structure development|upregulation of induction of apoptosis by p53 involved in anatomical structure development|up regulation of apoptotic programmed cell death involved in development of an anatomical structure|up regulation of apoptotic cell death involved in development of an anatomical structure|up-regulation of apoptotic programmed cell death involved in development of an anatomical structure|positive regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|up-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|activation of apoptotic program involved in anatomical structure development|upregulation of induction of apoptosis involved in anatomical structure development|upregulation of apoptotic process involved in development|positive regulation of apoptotic process involved in development of an anatomical structure|up-regulation of type I programmed cell death involved in development of an anatomical structure|up regulation of apoptosis signaling involved in anatomical structure development|up-regulation of apoptotic process involved in development of an anatomical structure|upregulation of apoptotic programmed cell death involved in development of an anatomical structure|activation of apoptotic process involved in development owl:Class MONDO:0021353 biolink:NamedThing tumor of uterus A neoplasm (disease) that involves the uterus. tmpaxzxjjyw_mondo_relaxed.owl uterine neoplasms|uterine tumor|tumor of the uterus|neoplasm of the uterus|uterus neoplasm (disease)|uterus tumor|uterine neoplasm|uterus neoplasm|neoplasm of uterus|tumor of uterus ICD9:239.5|SCTID:126908007|NCIT:C3435|EFO:0003859|ONCOTREE:UTERUS owl:Class MONDO:0021148 biolink:NamedThing female reproductive system neoplasm A benign, precancerous, or malignant neoplasm that affects the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, ovarian carcinoma, cervical carcinoma, and endometrial carcinoma. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of female reproductive organ|neoplasm of the female reproductive system|female reproductive organ neoplasm (disease)|gynecologic neoplasm|female reproductive organ tumor|gynecologic tumor|tumor of the female reproductive system|female reproductive system neoplasm|female reproductive system tumor|neoplasm of female reproductive system|female reproductive system neoplasm (disease)|tumor of female reproductive system EFO:1001331|NCIT:C3053|MESH:D005833|UMLS:C0017416 owl:Class MONDO:0005985 biolink:NamedThing Togaviridae infectious disease Virus diseases caused by the togaviridae. tmpaxzxjjyw_mondo_relaxed.owl Togaviridae caused disease or disorder|Togaviridae disease or disorder EFO:0007513|GARD:0007776|UMLS:C0040361|MESH:D014036 owl:Class MONDO:0025294 biolink:NamedThing tick-borne infectious disease Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic. tmpaxzxjjyw_mondo_relaxed.owl disease, Tick-borne|infection, Tick-borne|Tick borne infections|Tick-borne disease|infections, Tick borne|infections, Tick-borne|Tick-borne infection|Tick borne diseases|diseases, Tick-borne|Tick-borne infections MESH:D017282 owl:Class HGNC:4458 biolink:NamedThing GPI tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001581 biolink:NamedThing sea surface layer A surface layer which is part of an ocean or sea. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001554 biolink:NamedThing surface layer of a water body A water surface that is part of a water body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006446 biolink:NamedThing regulation of translational initiation Any process that modulates the frequency, rate or extent of translational initiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013070 biolink:NamedThing spermatogenic failure 7 tmpaxzxjjyw_mondo_relaxed.owl Male infertility, nonsyndromic, autosomal recessive|spermatogenic failure type 7|SPGF7|spermatogenic failure 7 Orphanet:276234|DOID:0070173|UMLS:C2751811|MESH:C567832|OMIM:612997 owl:Class MONDO:0017173 biolink:NamedThing non-syndromic male infertility due to sperm motility disorder Non-syndromic male infertility due to sperm motility disorder is a rare, genetic, non-syndromic male infertility disorder characterized by infertility due to sperm with defects in their cilia/flagella structure, leading to absent motility or reduced forward motility in fresh ejaculate. Reduced semen volume, oligospermia and an increased number of abnormally structured spermatozoa is often present. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic male infertility due asthenozoospermia|isolated male infertility due to sperm motility disorder|nonsyndromic male infertility due to sperm motility disorder ICD10:N46|OMIM:614822|Orphanet:276234|OMIM:612997|UMLS:CN202602|OMIM:606766 owl:Class GO:0045818 biolink:NamedThing negative regulation of glycogen catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen. tmpaxzxjjyw_mondo_relaxed.owl down regulation of glycogen catabolic process|inhibition of glycogen catabolic process|downregulation of glycogen catabolic process|negative regulation of glycogenolysis|negative regulation of glycogen catabolism|negative regulation of glycogen degradation|down-regulation of glycogen catabolic process|negative regulation of glycogen breakdown owl:Class GO:0070874 biolink:NamedThing negative regulation of glycogen metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glycogen. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of glycogen metabolism owl:Class MONDO:0043156 biolink:NamedThing nephrotic syndrome ocular anomalies tmpaxzxjjyw_mondo_relaxed.owl Glastre Cochat Bouvier syndrome|familial infantile nephrotic syndrome with ocular abnormalities UMLS:C2931188|GARD:0003945|MESH:C536403 owl:Class MONDO:0005377 biolink:NamedThing nephrotic syndrome A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction. tmpaxzxjjyw_mondo_relaxed.owl nephrosis|nephrotic syndromes|syndromes, nephrotic|nephrotic syndrome|syndrome, nephrotic OMIM:615573|OMIM:615244|ICD9:581.9|OMIM:600995|OMIM:256370|OMIM:614196|UMLS:C0027726|ICD9:581|OMIM:256300|DOID:1184|NCIT:C34845|OMIM:615008|OMIM:614199|OMIM:610725|SCTID:52254009|OMIM:615861|EFO:0004255|MESH:D009404|ICD10:N04 owl:Class CL:0000000 biolink:NamedThing cell A material entity of anatomical origin (part of or deriving from an organism) that has as its parts a maximally connected cell compartment surrounded by a plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl FMA:68646|KUPO:0000002|VHOG:0001533|XAO:0003012|GO:0005623|WBbt:0004017|CALOHA:TS-2035 The definition of cell is intended to represent all cells, and thus a cell is defined as a material entity and not an anatomical structure, which implies that it is part of an organism (or the entirety of one). cell owl:Class CL:0000239 biolink:NamedThing brush border epithelial cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0000067 biolink:NamedThing ciliated epithelial cell An epithelial cell that has a cilia. tmpaxzxjjyw_mondo_relaxed.owl FMA:70605 cell owl:Class MONDO:0009838 biolink:NamedThing Parana hard-skin syndrome A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death. tmpaxzxjjyw_mondo_relaxed.owl Parana hard-skin syndrome|hard skin syndrome Parana type|Parana hard skin syndrome|hard skin syndrome, Parana type|hard-skin syndrome, Parana type OMIM:260530|ICD10:L91.8|NCIT:C126559|GARD:0002598|UMLS:C1850079|MESH:C564905|Orphanet:2812 owl:Class GO:0006109 biolink:NamedThing regulation of carbohydrate metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving carbohydrates. tmpaxzxjjyw_mondo_relaxed.owl regulation of carbohydrate metabolism owl:Class NCBITaxon:2039 biolink:NamedThing Tropheryma whipplei tmpaxzxjjyw_mondo_relaxed.owl Whipple's bacillus|Tropheryma whippelii|Whipple's disease-associated bacterium PMID:10555351|PMID:8863438|PMID:10843039|PMID:1377787|PMID:11491348|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:2038 biolink:NamedThing Tropheryma tmpaxzxjjyw_mondo_relaxed.owl PMID:1377787|PMID:11491348|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0032657 biolink:NamedThing developmental and epileptic encephalopathy, 69 tmpaxzxjjyw_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69|epileptic encephalopathy, early infantile, 69|DEE69|EIEE69 OMIM:618285 owl:Class MONDO:0022196 biolink:NamedThing chronic erosive gastritis tmpaxzxjjyw_mondo_relaxed.owl ceg - chronic erosive gastritis|chronic erosive gastritis|diffuse varioliform gastritis|idiopathic chronic, erosive gastritis|varioliform gastritis ICD9:535.40|GARD:0006099|SCTID:63137003|UMLS:C0267145 https://rarediseases.info.nih.gov/diseases/6099/chronic-erosive-gastritis owl:Class GO:0046031 biolink:NamedThing ADP metabolic process The chemical reactions and pathways involving ADP, adenosine 5'-diphosphate. tmpaxzxjjyw_mondo_relaxed.owl ADP metabolism owl:Class GO:0009150 biolink:NamedThing purine ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine ribonucleotide metabolism owl:Class CL:0000515 biolink:NamedThing skeletal muscle myoblast A myoblast that differentiates into skeletal muscle fibers. tmpaxzxjjyw_mondo_relaxed.owl skeletal myoblast FMA:84799 cell owl:Class GO:0010466 biolink:NamedThing negative regulation of peptidase activity Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010922 biolink:NamedThing positive regulation of phosphatase activity Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051345 biolink:NamedThing positive regulation of hydrolase activity Any process that activates or increases the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds. tmpaxzxjjyw_mondo_relaxed.owl upregulation of hydrolase activity|up regulation of hydrolase activity|hydrolase activator|up-regulation of hydrolase activity|activation of hydrolase activity|stimulation of hydrolase activity owl:Class GO:1903566 biolink:NamedThing positive regulation of protein localization to cilium Any process that activates or increases the frequency, rate or extent of protein localization to cilium. tmpaxzxjjyw_mondo_relaxed.owl activation of protein localization to cilium|up regulation of protein localization to cilium|upregulation of protein localization to cilium|up-regulation of protein localization to cilium owl:Class MONDO:0018855 biolink:NamedThing keratosis pilaris atrophicans An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair. tmpaxzxjjyw_mondo_relaxed.owl amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2|ulerythema ophryogenes|keratosis pilaris atrophicans facies|folliculitis ulerythematosa reticulata|KPA|keratosis pilaris|folliculitis ulerythematosa|ulerythema ophryogenesis|keratosis pilaris atrophicans|honeycomb atrophy|ulerythema ophryogenes with multiple congenital anomalies|burnett Schwartz Berberian syndrome|Atrophodermia vermiculata|Atrophodermia reticulata symmetrica faciei|Atrophodermia reticulata SCTID:400059005|OMIM:604093|ICD9:757.39|MESH:C537412|Orphanet:498|ICD10:L85.8|GARD:0001042 https://rarediseases.info.nih.gov/diseases/1042/burnett-schwartz-berberian-syndrome owl:Class MONDO:0023212 biolink:NamedThing Garret-Tripp syndrome tmpaxzxjjyw_mondo_relaxed.owl Intellecutal disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|intellectual disability with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip|polydactyly alopecia seborrheic dermatitis|Garret Tripp syndrome|mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip MESH:C535646|GARD:0002435|UMLS:C2930965 https://rarediseases.info.nih.gov/diseases/2435/garret-tripp-syndrome owl:Class UBERON:0015228 biolink:NamedThing circulatory organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003103 biolink:NamedThing compound organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002367 biolink:NamedThing prostate gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010147 biolink:NamedThing male accessory sex gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001259 biolink:NamedThing Coma Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. tmpaxzxjjyw_mondo_relaxed.owl Coma UMLS:C0009421|MSH:D003128|ICD-10:R40.2|SNOMEDCT_US:371632003 Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. human_phenotype owl:Class HP:0004372 biolink:NamedThing Reduced consciousness/confusion tmpaxzxjjyw_mondo_relaxed.owl Reduced consciousness/confusion|Disturbances of consciousness|Lowered consciousness SNOMEDCT_US:3006004|UMLS:C0234428 peter 2008-03-18T07:12:00Z human_phenotype owl:Class GO:0060100 biolink:NamedThing positive regulation of phagocytosis, engulfment Any process that activates or increases the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045807 biolink:NamedThing positive regulation of endocytosis Any process that activates or increases the frequency, rate or extent of endocytosis. tmpaxzxjjyw_mondo_relaxed.owl up regulation of endocytosis|upregulation of endocytosis|activation of endocytosis|stimulation of endocytosis|up-regulation of endocytosis owl:Class HGNC:11161 biolink:NamedThing SNRPE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005320 biolink:NamedThing tibia fracture Traumatic or pathological injury to the tibia in which the continuity of the bone is broken. tmpaxzxjjyw_mondo_relaxed.owl tibia bone fracture|bone fracture of tibia EFO:0003944|MESH:D013978|NCIT:C99083|SCTID:31978002 owl:Class MONDO:0016025 biolink:NamedThing myoclonic-astastic epilepsy Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children. tmpaxzxjjyw_mondo_relaxed.owl myoclonic astatic epilepsy|epilepsy with myoclonic-atonic seizures|EMAS|mae|epilepsy with myoclonic-astatic seizures|Doose syndrome|myoclonic atonic epilepsy|epilepsy with myoclono-astatic crisis|myoclonic-astatic epilepsy in early childhood OMIM:616421|OMIM:615369|Orphanet:1942|ICD9:345.10|GARD:0002169|SCTID:230421008|ICD10:G40.4 https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy owl:Class MONDO:0007271 biolink:NamedThing familial cutaneous collagenoma Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission. tmpaxzxjjyw_mondo_relaxed.owl collagenoma, familial cutaneous MESH:C562925|Orphanet:53296|UMLS:C0406817|SCTID:239139000|GARD:0009799|ICD10:L94.8|OMIM:115250 https://rarediseases.info.nih.gov/diseases/9799/familial-cutaneous-collagenoma owl:Class MONDO:0019292 biolink:NamedThing dermis elastic tissue disorder tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227616|Orphanet:79378 owl:Class UBERON:0009014 biolink:NamedThing lower back skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003402 biolink:NamedThing testicular yolk sac tumor A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation. tmpaxzxjjyw_mondo_relaxed.owl yolk Sac neoplasm of the testis|yolk sac tumor|endodermal sinus tumor of testis|endodermal sinus neoplasm of the testis|yolk Sac tumor of the testis|yolk Sac neoplasm of testis|Orchidoblastoma|testicular endodermal sinus neoplasm|yolk Sac tumor of testis|endodermal sinus tumor of the testis|testis yolk sac tumor|testicular endodermal sinus tumor|endodermal sinus neoplasm of testis|testicular yolk Sac neoplasm|testicular yolk sac tumor|endodermal-sinus tumor DOID:5344|UMLS:C0279708|NCIT:C8000|EFO:1000574|ONCOTREE:TYST|UMLS:C0014145|GARD:0000348 owl:Class MONDO:0004662 biolink:NamedThing heterophyiasis An infection that is caused by the intestinal fluke Heterophyes heterophyes, which is most commonly found in Asia, the Middle East, and Africa, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. tmpaxzxjjyw_mondo_relaxed.owl Heterophyes infectious disease|infections, Heterophyes|Heterophyes infection DOID:882|ICD9:121.6|UMLS:C0152071|SCTID:22905009|ICD10:B66.8|NCIT:C128389 owl:Class MONDO:0003685 biolink:NamedThing retroperitoneal germ cell neoplasm A germ cell tumor that involves the retroperitoneal space. tmpaxzxjjyw_mondo_relaxed.owl germ cell tumor of retroperitoneum|germ cell neoplasm of retroperitoneum|germ cell neoplasm of the retroperitoneum|germ cell tumor of the retroperitoneum|retroperitoneal germ cell tumor UMLS:C1335776|NCIT:C6447|DOID:5874 owl:Class MONDO:0012450 biolink:NamedThing spinocerebellar ataxia type 28 Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia 28|SCA28|spinocerebellar ataxia type 28 UMLS:C4274988|OMIM:610246|DOID:0050977|SCTID:715824008|ICD10:G11.1|GARD:0009951|Orphanet:101109|MESH:C537205|UMLS:C1853249 owl:Class HP:0002352 biolink:NamedThing Leukoencephalopathy This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. tmpaxzxjjyw_mondo_relaxed.owl MSH:D056784|UMLS:C0270612|SNOMEDCT_US:22811006 This feature can be demonstrated by magnetic resonance imaging or computer tomography. HP:0007073|HP:0006838 human_phenotype owl:Class HP:0002060 biolink:NamedThing Abnormal cerebral morphology Any structural abnormality of the telencephalon, which is also known as the cerebrum. tmpaxzxjjyw_mondo_relaxed.owl Cerebral lesion|Abnormality of the cerebrum|Abnormality of the telencephalon UMLS:C4021762 human_phenotype owl:Class MONDO:0008699 biolink:NamedThing achalasia microcephaly syndrome Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed. tmpaxzxjjyw_mondo_relaxed.owl achalasia-microcephaly syndrome|achalasia microcephaly DOID:0050796|OMIM:200450|UMLS:C1860212|MESH:C536010|ICD10:Q39.5|Orphanet:929|SCTID:718573009|GARD:0000456 https://rarediseases.info.nih.gov/diseases/456/achalasia-microcephaly-syndrome owl:Class MONDO:0015208 biolink:NamedThing syndromic esophageal malformation A esophageal malformation that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic esophageal malformation|syndrome associated with esophageal malformation UMLS:CN226625|Orphanet:108961 owl:Class MONDO:0020713 biolink:NamedThing pulmonary venoocclusive disease 1 tmpaxzxjjyw_mondo_relaxed.owl pulmonary venoocclusive disease 1, autosomal dominant|PVOD1 OMIM:265450 owl:Class MONDO:0009937 biolink:NamedThing pulmonary venoocclusive disease A disorder characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. tmpaxzxjjyw_mondo_relaxed.owl pulmonary veno-occlusive disease|obstructive disease of the pulmonary veins|PVOD|pulmonary capillary hemangiomatosis UMLS:C0034091|MedDRA:10037458|DOID:5453|Orphanet:31837|GARD:0010153|SCTID:89420002|NCIT:C85039|OMIMPS:265450|MESH:D011668|OMIM:265450|ICD9:416.8 https://rarediseases.info.nih.gov/diseases/10153/pulmonary-venoocclusive-disease owl:Class MONDO:0005906 biolink:NamedThing peritonsillar abscess An abscess that develops in the space surrounding one or both palatine tonsils. tmpaxzxjjyw_mondo_relaxed.owl quinsy ICD9:475|UMLS:C0031157|MESH:D000039|ICD10:J36|EFO:0007429|NCIT:C128322|SCTID:15033003 owl:Class MONDO:0001386 biolink:NamedThing visual epilepsy Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or 'seizure disorder.' tmpaxzxjjyw_mondo_relaxed.owl epilepsy, visual SCTID:39194005|MESH:D012640|NCIT:C3980|DOID:11832|UMLS:C0270824 owl:Class HGNC:3482 biolink:NamedThing ETFB tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21246 biolink:NamedThing PNPLA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:513045 biolink:NamedThing Dioctophyme renale tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:513042 biolink:NamedThing Dioctophyme tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010537 biolink:NamedThing Borjeson-Forssman-Lehmann syndrome Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes. tmpaxzxjjyw_mondo_relaxed.owl syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type|intellectual disability, epilepsy, and endocrine disorders|BFLS|mental retardation, epilepsy, and endocrine disorders|intellectual disability-epilepsy-endocrine disorders syndrome|mental deficiency, epilepsy and endocrine disorders|syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type|Borjeson-FORSSMAN-Lehmann syndrome|intellectual disability, X-linked, syndromic, Borjeson-Forssman-Lehmann type|intellectual disability, epilepsy, and endocrine disorder|intellectual deficiency-epilepsy-endocrine disorders syndrome|mental retardation, epilepsy, and endocrine disorder|MRXSBFL|Borjeson-Forssman-Lehmann syndrome|mental retardation, X-linked, syndromic, Borjeson-Forssman-Lehmann type|BORJ|Borjeson syndrome ICD9:759.89|Orphanet:127|UMLS:C0265339|OMIM:301900|DOID:0050681|MESH:C536575|ICD10:Q87.8|GARD:0000936|SCTID:21634003 https://rarediseases.info.nih.gov/diseases/936/borjeson-forssman-lehmann-syndrome owl:Class CHEBI:76760 biolink:NamedThing EC 3.1.* (ester hydrolase) inhibitor A hydrolase inhibitor that interferes with the action of any ester hydrolase (EC 3.1.*.*). tmpaxzxjjyw_mondo_relaxed.owl ester hydrolase inhibitor|EC 3.1.* inhibitors|ester hydrolase (EC 3.1.*) inhibitor|ester hydrolase (EC 3.1.*) inhibitors|ester hydrolase inhibitors|EC 3.1.* inhibitor|EC 3.1.* (ester hydrolase) inhibitors owl:Class CHEBI:76759 biolink:NamedThing EC 3.* (hydrolase) inhibitor Any enzyme inhibitor that interferes with the action of a hydrolase (EC 3.*.*.*). tmpaxzxjjyw_mondo_relaxed.owl EC 3.* inhibitor|EC 3.*.*.* inhibitors|EC 3.* inhibitors|hydrolase (EC 3.*) inhibitors|hydrolase inhibitor|EC 3.* (hydrolase) inhibitors|EC 3.*.*.* inhibitor|hydrolase inhibitors|hydrolase (EC 3.*) inhibitor owl:Class GO:0030312 biolink:NamedThing external encapsulating structure A structure that lies outside the plasma membrane and surrounds the entire cell or cells. This does not include the periplasmic space. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014371 biolink:NamedThing developmental and epileptic encephalopathy, 23 tmpaxzxjjyw_mondo_relaxed.owl early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome|epileptic encephalopathy, early infantile, 23|DEE18|epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome|developmental and epileptic encephalopathy, 23|epileptic encephalopathy, early infantile, type 23|EIEE23 Orphanet:411986|ICD10:G40.4|UMLS:C4014492|OMIM:615859|DOID:0080415 owl:Class GO:0009156 biolink:NamedThing ribonucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl ribonucleoside monophosphate anabolism|ribonucleoside monophosphate formation|ribonucleoside monophosphate biosynthesis|ribonucleoside monophosphate synthesis owl:Class UBERON:0005604 biolink:NamedThing extrahepatic part of hepatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002394 biolink:NamedThing bile duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007105 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 1 Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene. tmpaxzxjjyw_mondo_relaxed.owl frontotemporal dementia and/or motor neuron disease|frontotemporal dementia and/or amyotrophic lateral sclerosis|C9orf72 frontotemporal dementia with motor neuron disease|FTDALS1|amyotrophic lateral sclerosis and/or frontotemporal dementia|frontotemporal dementia with motor neuron disease caused by mutation in C9orf72|frontotemporal dementia and/or amyotrophic lateral sclerosis 1|ALSFTD|C9ORF72 frontotemporal dementia with motor neuron disease|frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72|frontotemporal dementia and/or amyotrophic lateral sclerosis type 1|FTDMND OMIM:105550|UMLS:C3888102|Orphanet:275872|DOID:0060213|UMLS:C1862937 owl:Class MONDO:0005144 biolink:NamedThing familial amyotrophic lateral sclerosis An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary amyotrophic lateral sclerosis OMIM:612069|OMIM:205250|OMIM:606070|OMIM:614808|OMIM:614373|OMIM:615515|OMIM:616437|OMIMPS:105400|OMIM:613435|OMIM:105400|OMIM:616208|OMIM:608030|OMIM:608627|OMIM:615426|OMIM:614696|OMIM:611895|OMIM:300857|EFO:0001356|OMIM:613954|OMIM:608031|OMIM:612577|OMIM:606640|OMIM:205100 owl:Class MONDO:0044338 biolink:NamedThing autoimmune primary ovarian failure An autoimmune form of primary ovarian failure. tmpaxzxjjyw_mondo_relaxed.owl primary ovarian failure arising through autoimmunity ICD9:279.49|SCTID:237790001|ICD9:256.39|UMLS:C0342508 owl:Class MONDO:0000569 biolink:NamedThing autoimmune disorder of endocrine system A hypersensitivity reaction type II disease that involves the endocrine system. tmpaxzxjjyw_mondo_relaxed.owl endocrine system hypersensitivity reaction type II disease|endocrine system autoimmune disease ICD9:279.49|UMLS:C0342552|SCTID:237822008|DOID:0060005 owl:Class GO:0050667 biolink:NamedThing homocysteine metabolic process The chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. Homocysteine is an important intermediate in the metabolic reactions of its S-methyl derivative, methionine. tmpaxzxjjyw_mondo_relaxed.owl Hcy metabolic process|homocysteine metabolism|Hcy metabolism owl:Class MONDO:0002067 biolink:NamedThing female breast upper-inner quadrant cancer tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of upper-inner quadrant of female breast ICD10:C50.2|SCTID:188152004|ICD9:174.2|UMLS:C0153550|DOID:1647 owl:Class MONDO:0004379 biolink:NamedThing female breast carcinoma A carcinoma that arises from the breast in females. It is the most common malignant tumor that affects females. tmpaxzxjjyw_mondo_relaxed.owl female breast cancer|female breast carcinoma|breast carcinoma, female|mammary carcinoma of the female breast|mammary carcinoma of female breast|carcinoma of the female breast|carcinoma of female breast NCIT:C2918|ICD9:174.8|DOID:0050671|SCTID:372064008|ICD9:174.9|DOID:7843|SCTID:447782002|UMLS:C0007104 owl:Class MONDO:0100364 biolink:NamedThing genital herpes simplex type 1 infectious disorder Any herpes simplex type 1 infectious disease that involves the genitals. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class MONDO:0005770 biolink:NamedThing genital herpes Herpes simplex infection of the genitals, most commonly caused by the herpes simplex-2 virus. tmpaxzxjjyw_mondo_relaxed.owl virus-genital herpes|herpes genitalis|venereal herpes|herpes genitalia|genital herpes simplex UMLS:C0019342|SCTID:33839006|ICD9:054.1|ICD9:054.19|NCIT:C14364|ICD9:054.10|MESH:D006558|DOID:8704|EFO:0007282 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class CL:1001434 biolink:NamedThing olfactory bulb interneuron A neuron residing in the olfactory bulb that serve to process and refine signals arising from olfactory sensory neurons tmpaxzxjjyw_mondo_relaxed.owl cl owl:Class MONDO:0100057 biolink:NamedThing food-dependent exercise-induced anaphylaxis A subset of exercise-induced anaphylaxis in which symptoms develop if exertion takes place within a few hours of eating a specific food. In the case of food-dependent exercise-induced anaphylaxis, neither the food nor the exercise alone is enough to cause anaphylaxis. tmpaxzxjjyw_mondo_relaxed.owl 2018-08-15 17:55:08+00:00 https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis owl:Class MONDO:0100056 biolink:NamedThing exercise-induced anaphylaxis A rare disorder in which anaphylaxis occurs in association with physical activity. tmpaxzxjjyw_mondo_relaxed.owl EIAn 2018-08-15 17:51:10+00:00 https://rarediseases.info.nih.gov/diseases/6392/exercise-induced-anaphylaxis owl:Class CL:0010008 biolink:NamedThing cardiac endothelial cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000115 biolink:NamedThing endothelial cell An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm. tmpaxzxjjyw_mondo_relaxed.owl endotheliocyte BTO:0001176|CALOHA:TS-0278|FMA:66772 From FMA: 9.07.2001: Endothelial cell has always been classified as a kind of epithelial cell, specifically a squamous cell but that is not true. First, endothelial cell can either be squamous or cuboidal (e.g. high-endothelial cell) and secondly, it has different embryological derivation (mesodermal) than a true epithelial cell (ectodermal and endodermal). The basis for present classification is the fact that it comprises the outermost layer or lining of anatomical structures (location-based) but a better structural basis for the differentia is the cytoskeleton of the cell. Endothelial cell has vimentin filaments while an epithelial cell has keratin filaments. [Onard]. cell owl:Class CHEBI:18140 biolink:NamedThing hydrogen halide tmpaxzxjjyw_mondo_relaxed.owl hydrogen halides|hydrogen halide|HX owl:Class CHEBI:33405 biolink:NamedThing hydracid A hydracid is a compound which contains hydrogen that is not bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). tmpaxzxjjyw_mondo_relaxed.owl hydracids|hydracid owl:Class GO:0031642 biolink:NamedThing negative regulation of myelination Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons. tmpaxzxjjyw_mondo_relaxed.owl downregulation of myelination|down-regulation of myelination|down regulation of myelination|inhibition of myelination owl:Class MONDO:0010353 biolink:NamedThing deafness-intellectual disability, Martin-Probst type syndrome Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome. tmpaxzxjjyw_mondo_relaxed.owl deafness-intellectual disability syndrome, Martin-Probst type|X-linked deafness-intellectual disability syndrome syndrome|mental retardation, X-linked, syndromic, Martin-Probst type|MRXSMP|Martin-Probst syndrome|Martin-Probst deafness-mental retardation syndrome|Martin-Probst deafness-intellectual disability syndrome|intellectual disability, X-linked, syndromic, MARTIN-Probst type|mental retardation, X-linked, syndromic, MARTIN-Probst type|intellectual disability, X-linked, syndromic, Martin-Probst type OMIM:300519|DOID:0060830|Orphanet:85321|SCTID:721087008|MESH:C564495|ICD10:Q87.8 owl:Class MONDO:0005525 biolink:NamedThing T-cell leukemia A malignant disease of the T-lymphocytes in the bone marrow, thymus, and/or blood. tmpaxzxjjyw_mondo_relaxed.owl leukemia (disease) of T cell|T cell leukemia (disease) DOID:715|UMLS:C0023492|MESH:D015458|EFO:0005592 owl:Class MONDO:0005059 biolink:NamedThing leukemia A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. tmpaxzxjjyw_mondo_relaxed.owl leukemia, disease|leukemias|leukemia (disease)|leukemias, general|blood (leukemia)|leukemia, malignant|leukemia leukemia (disease) UMLS:C0023418|HP:0001909|ICD10:C95.90|SCTID:93143009|ICD9:207|ICD9:207.8|ICD9:208.9|EFO:0000565|ICD10:C95.9|ICD10:C95|ICD9:208.8|ICD9:208.90|ICD9:207.80|ICD9:208.80|NCIT:C3161|DOID:1240|MESH:D007938|ICD9:208|ICDO:9800/3 owl:Class MONDO:0015758 biolink:NamedThing primary cutaneous T-cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl GARD:0006226|ICD10:C84.8|Orphanet:171901|MESH:D016410|MedDRA:10011677 owl:Class MONDO:0018898 biolink:NamedThing primary cutaneous lymphoma Cutaneous lymphoma is a heterogeneous entity with respect to its clinical and pathological features, evolutive profile, prognosis, molecular aetiology and response to therapy. These specifications have been taken into account in recent classifications, which have placed particular importance on the prognostic implications of these different entities. tmpaxzxjjyw_mondo_relaxed.owl cutaneous (skin) lymphoma|primary cutaneous lymphoma|primary skin lymphoma Orphanet:542|MedDRA:10051708|SCTID:400001003|UMLS:C1302772|NCIT:C7162 owl:Class MONDO:0006075 biolink:NamedThing adrenal gland myelolipoma A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues. tmpaxzxjjyw_mondo_relaxed.owl Myelolipoma|MYELOLIPOMA, benign|adrenal gland myelolipoma EFO:1000074|ICDO:8870/0|UMLS:C0206635|NCIT:C3736|SCTID:719049003|MESH:D018209 owl:Class MONDO:0021511 biolink:NamedThing benign neoplasm of adrenal gland A benign neoplasm that involves the adrenal gland. tmpaxzxjjyw_mondo_relaxed.owl benign adrenal tumor|benign adrenal neoplasm|benign neoplasm of the adrenal gland|benign tumor of adrenal gland|benign tumor of the adrenal gland|benign adrenal gland neoplasm|adrenal gland benign neoplasm|benign adrenal gland tumor ICD9:227.0|SCTID:91967007|UMLS:C0154040|NCIT:C3629 owl:Class MONDO:0003158 biolink:NamedThing malignant myoepithelioma An infiltrating malignant tumor characterized by the presence of atypical cells with myoepithelial differentiation. Representative examples include malignant breast myoepithelioma and salivary gland myoepithelial carcinoma. tmpaxzxjjyw_mondo_relaxed.owl myoepithelioma, malignant|myoepithelioma carcinoma|myoepithelial carcinoma|malignant myoepithelioma|soft tissue myoepithelial carcinoma NCIT:C7596|UMLS:C0334699|ONCOTREE:STMYEC|DOID:4838|ICDO:8982/3|GARD:0010558 https://rarediseases.info.nih.gov/diseases/10558/myoepithelial-carcinoma owl:Class MONDO:0002681 biolink:NamedThing choroid plexus cancer A malignant neoplasm involving the choroid plexus tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the choroid plexus|tumor of choroid plexus|malignant choroid plexus neoplasms|choroid plexus cancer|malignant choroid plexus neoplasm|malignant neoplasm of choroid plexus|malignant tumor of the choroid plexus|cancer of choroid plexus|choroid plexus neoplasm|malignant choroid plexus tumors|malignant tumor of choroid plexus|malignant choroid plexus tumor SCTID:254942002|UMLS:C0085138|NCIT:C3473|NCIT:C4533|DOID:3540 Editor note. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/16 owl:Class MONDO:0002470 biolink:NamedThing photosensitive trichothiodystrophy A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway tmpaxzxjjyw_mondo_relaxed.owl Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature|trichothiodystrophy|trichothiodystrophy with congenital ichthyosis|Tay syndrome|sulfur-deficient brittle hair syndrome|trichothiodystrophy with congenital ichtyosis|IBIDS syndrome GARD:0002944|OMIM:601675|UMLS:CN205101|DOID:2960|Orphanet:453 owl:Class MONDO:0004439 biolink:NamedThing periocular meningioma A meningioma that affects the periocular region. tmpaxzxjjyw_mondo_relaxed.owl DOID:8030|NCIT:C6777|UMLS:C1335383 owl:Class UBERON:0006645 biolink:NamedThing adventitia of epididymis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005742 biolink:NamedThing adventitia tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:31673 biolink:NamedThing GRXCR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008745 biolink:NamedThing oculocutaneous albinism type 1A Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves. tmpaxzxjjyw_mondo_relaxed.owl albinism 1|oculocutaneous albinism, type 1|Tyr oculocutaneous albinism|oculocutaneous albinism caused by mutation in Tyr|oculocutaneous albinism type IA|OCA1A|albinism, oculocutaneous, type IA|oculocutaneous albinism, tyrosinase-negative|albinism, oculocutaneous, type 1A|TYR oculocutaneous albinism|tyrosinase-negative oculocutaneous albinism|oculocutaneous albinism caused by mutation in TYR DOID:0070094|ICD9:270.2|OMIM:203100|Orphanet:352731|SCTID:6483008|ICD10:E70.3|Orphanet:79431 owl:Class MONDO:0009244 biolink:NamedThing Freesia Flowers, inability to smell tmpaxzxjjyw_mondo_relaxed.owl Freesia Flowers, inability to smell OMIM:229250 owl:Class MONDO:0002889 biolink:NamedThing orbital cancer A primary or metastatic malignant neoplasm involving the orbit. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of orbit of skull|malignant tumor of the orbit|malignant orbit of skull neoplasm|malignant orbit tumor|neoplasm of orbit proper|malignant neoplasm of the orbit|orbit cancer|orbit of skull cancer|malignant orbital neoplasm|malignant orbital tumor|malignant tumor of orbit|orbital tumor|cancer of orbit of skull|malignant orbit neoplasm|malignant neoplasm of orbit DOID:4143|ICD9:190.1|ICD10:C69.6|ICD9:239.89|NCIT:C3562|SCTID:127003006|EFO:0007408 owl:Class MONDO:0024611 biolink:NamedThing orbit neoplasm A benign or malignant neoplasm that affects the orbit. tmpaxzxjjyw_mondo_relaxed.owl tumor of orbit|orbital tumor|neoplasm of the orbit|neoplasm of orbit|orbit tumor|tumor of the orbit|orbital neoplasm|neoplasm of orbit of skull|orbit of skull tumor|tumor of orbit of skull|orbit neoplasm|orbit of skull neoplasm|orbital neoplasms NCIT:C3290 owl:Class MONDO:0017054 biolink:NamedThing thiamine-responsive maple syrup urine disease Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine. tmpaxzxjjyw_mondo_relaxed.owl thiamine-responsive BCKD deficiency|thiamine-responsive maple syrup urine disease|thiamine-responsive branched-chain 2-ketoacid dehydrogenase deficiency|thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency|thiamine-responsive MSUD ICD10:E71.0|Orphanet:268184|OMIM:248600 owl:Class MONDO:0009563 biolink:NamedThing maple syrup urine disease An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. tmpaxzxjjyw_mondo_relaxed.owl BCKD deficiency|branched chain ketoaciduria|Ketoacidaemia|maple syrup urine disease, intermittent|branched-chain ketoaciduria|maple syrup urine disease, type 2|Keto acid decarboxylase deficiency|branched-chain 2-ketoacid dehydrogenase deficiency|maple syrup urine disease, thiamine-responsive|maple syrup urine disease, classic|dihydrolipoamide dehydrogenase deficiency|maple syrup urine disease, Intermediate|maple syrup urine disease|branched-chain Alpha-Keto acid dehydrogenase deficiency|MSUD|maple syrup urine disease, type 1B|BCKDH deficiency|maple syrup urine disease, type 1A MESH:D008375|OMIM:615135|MedDRA:10026817|ICD10:E71.0|UMLS:C0024776|NCIT:C34806|Orphanet:268145|OMIM:246900|OMIMPS:248600|DOID:9269|Orphanet:268184|Orphanet:268162|Orphanet:268173|SCTID:27718001|Orphanet:511|OMIM:248600|GARD:0003228 Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct owl:Class HP:0002119 biolink:NamedThing Ventriculomegaly An increase in size of the ventricular system of the brain. tmpaxzxjjyw_mondo_relaxed.owl Enlarged ventricles|Dilated cerebral ventricles|Dilated cerebral ventricle|Ventricular dilatation|Enlarged ventricular system|Enlarged cerebral ventricles|Large cerebral ventricles and cisternae|Cerebral ventricular dilatation|Dilated ventricles UMLS:C3278923 HP:0007071|HP:0002447|HP:0005691 human_phenotype owl:Class HP:0002118 biolink:NamedThing Abnormal cerebral ventricle morphology Any structural abnormality of the cerebral ventricles. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the cerebral ventricles UMLS:C4025724 human_phenotype owl:Class CL:0000164 biolink:NamedThing enteroendocrine cell An endocrine cell that is located in the epithelium of the gastrointestinal tract or in the pancreas. tmpaxzxjjyw_mondo_relaxed.owl BTO:0003865|FMA:62930 cell owl:Class MONDO:0019912 biolink:NamedThing maternal uniparental disomy of chromosome 6 Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes. tmpaxzxjjyw_mondo_relaxed.owl maternal uniparental disomy of chromosome type 6|UPD(6)mat ICD10:Q99.8|Orphanet:96181|SCTID:766239009 owl:Class MONDO:0017187 biolink:NamedThing diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency tmpaxzxjjyw_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form Orphanet:276598|OMIM:256450|ICD10:E16.1 owl:Class MONDO:0019265 biolink:NamedThing diazoxide-resistant focal hyperinsulinism Diazoxide-resistant focal hyperinsulism (DRFH) is a form of diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide, necessitating complete excision of the focal lesion. tmpaxzxjjyw_mondo_relaxed.owl hyperinsulinemic hypoglycemia, diazoxide-resistant focal form ICD10:E16.1|Orphanet:79298 owl:Class MONDO:0015704 biolink:NamedThing familial scaphocephaly syndrome tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10072229|Orphanet:169163|ICD10:Q75.0 owl:Class HGNC:7498 biolink:NamedThing MT-TS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904410 biolink:NamedThing negative regulation of secretory granule organization Any process that stops, prevents or reduces the frequency, rate or extent of secretory granule organization. tmpaxzxjjyw_mondo_relaxed.owl down regulation of secretory granule organization and biogenesis|downregulation of secretory granule organization|downregulation of secretory granule organisation|inhibition of secretory granule organization|down-regulation of secretory granule organization|negative regulation of secretory granule organisation|inhibition of secretory granule organization and biogenesis|downregulation of secretory granule organization and biogenesis|down-regulation of secretory granule organisation|negative regulation of secretory granule organization and biogenesis|down-regulation of secretory granule organization and biogenesis|inhibition of secretory granule organisation|down regulation of secretory granule organization|down regulation of secretory granule organisation owl:Class MONDO:0021503 biolink:NamedThing benign neoplasm of gallbladder A benign neoplasm that involves the gall bladder. tmpaxzxjjyw_mondo_relaxed.owl gallbladder benign neoplasm|benign gallbladder tumor|benign tumor of the gallbladder|gall bladder benign neoplasm|benign tumor of gallbladder|gallbladder benign tumor|benign gallbladder neoplasm|benign neoplasm of the gallbladder DOID:0080640|SCTID:92117002|UMLS:C0345912|NCIT:C4440 owl:Class MONDO:0008653 biolink:NamedThing vesicoureteral reflux 1 tmpaxzxjjyw_mondo_relaxed.owl vesicoureteral reflux 1|VUR1|VUR UMLS:C0042580|Orphanet:289365|OMIM:193000|UMLS:CN032731 owl:Class MONDO:0017329 biolink:NamedThing familial vesicoureteral reflux Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. tmpaxzxjjyw_mondo_relaxed.owl familial VUR|hereditary vesicoureteral reflux (disease) OMIM:610878|Orphanet:289365|OMIM:193000|SCTID:763716008|ICD10:N13.7|UMLS:CN202969|OMIMPS:193000|OMIM:614319|OMIM:614318|OMIM:613674|OMIM:615963|OMIM:614317|OMIM:314550|OMIM:614674|OMIM:615390 owl:Class MONDO:0011319 biolink:NamedThing activator of liver function 1 tmpaxzxjjyw_mondo_relaxed.owl activator of liver function type 1|RPL21P1|ribosomal Protein L21 pseudogene 1|Half1|ribosomal PROTEIN L21 pseudogene 1|activator of liver function 1|ALFN1 OMIM:603416 owl:Class FOODON:00002452 biolink:NamedThing invertebrate animal Invertebrates are animals that neither possess nor develop a vertebral column (commonly known as a backbone or spine), derived from the notochord. This includes all animals apart from the subphylum Vertebrata. tmpaxzxjjyw_mondo_relaxed.owl animal owl:Class FOODON:00003004 biolink:NamedThing animal A multicellular eukaryotic heterotrophic organism within the kingdom Animalia. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017714 biolink:NamedThing acyl-CoA dehydrogenase deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:309120|UMLS:C0268635|SCTID:82319005|ICD10:E71.3 owl:Class MONDO:0017713 biolink:NamedThing disorder of fatty acid oxidation and ketogenesis tmpaxzxjjyw_mondo_relaxed.owl ICD10:E71.3|Orphanet:309115|UMLS:CN227183 owl:Class MONDO:0008513 biolink:NamedThing synpolydactyly type 1 Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene. tmpaxzxjjyw_mondo_relaxed.owl SPD1|non-syndromic synpolydactyly caused by mutation in HOXD13|SD2, Vordingborg type|syndactyly, type 2|SPD, Vordingborg type|SD2a|HOXD13 non-syndromic synpolydactyly|synpolydactyly, Vordingborg type|synpolydactyly type 1|synpolydactyly 1|synpolydactyly with foot anomalies ICD10:Q70.2|UMLS:CN203278|Orphanet:295195|ICD10:Q70.0|OMIM:186000|Orphanet:93403 Editors note: check whether is_a: MONDO:0019683 is appropriate owl:Class MONDO:0019683 biolink:NamedThing syndactyly type 2 Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly. tmpaxzxjjyw_mondo_relaxed.owl synpolydactyly|SPD 2022-04-01 GARD:0005087|OMIM:608180|OMIM:610234|ICD10:Q70.0|OMIM:186000|MESH:C538153|ICD10:Q70.2|Orphanet:93403|SCTID:715724002 Reason: duplicate. This will be merged with MONDO:0021651 synpolydactyly owl:Class MONDO:0018879 biolink:NamedThing lichen planopilaris Lichen planopilaris (LPP) is a rare cutaneous variant of lichen planus which affects hair follicles. It may occur on its own or in association with more common forms of lichen planus, usually classical type and/or oral lichen planus. tmpaxzxjjyw_mondo_relaxed.owl Kossard disease|lichen follicularis|follicular lichen planus|LPP|lichen planopilaris classic type|lichen planus follicularis|frontal fibrosing alopecia (subtype) SCTID:64540004|Orphanet:525|MESH:C535892|GARD:0003247|UMLS:C0023645|ICD10:L66.1 owl:Class UBERON:0000108 biolink:NamedThing blastula stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002646 biolink:NamedThing viral laryngitis Acute inflammation of the larynx caused by viruses, including rhinovirus, influenza virus, parainfluenza virus, and adenovirus. tmpaxzxjjyw_mondo_relaxed.owl Viruses laryngitis|Viruses caused laryngitis UMLS:C0853195|ICD9:464.00|DOID:3436|NCIT:C27305|SCTID:441551009 owl:Class MONDO:0024355 biolink:NamedThing respiratory tract infectious disorder Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases. tmpaxzxjjyw_mondo_relaxed.owl infection, respiratory tract|infections, respiratory tract|respiratory tract infection|respiratory infections|upper respiratory infections|infections, respiratory|respiratory infection, upper|upper respiratory tract infections|infections, upper respiratory tract|infections, upper respiratory ICD9:519.8|MESH:D012141|SCTID:275498002 owl:Class MONDO:0019731 biolink:NamedThing AApoAI amyloidosis tmpaxzxjjyw_mondo_relaxed.owl apolipoprotein A-I amyloidosis|hereditary amyloid nephropathy due to apolipoprotein A-I variant|hereditary renal amyloidosis due to apolipoprotein A-I variant|familial renal amyloidosis due to apolipoprotein A-I variant|familial amyloid nephropathy due to apolipoprotein A-I variant Orphanet:93560|UMLS:CN206638|ICD10:E85.0 owl:Class MONDO:0007099 biolink:NamedThing familial visceral amyloidosis tmpaxzxjjyw_mondo_relaxed.owl hereditary amyloid nephropathy|amyloidosis, familial visceral|amyloidosis VIII|amyloidosis, familial renal|hereditary renal amyloidosis|Ostertag type amyloidosis|amyloidosis systemic nonneuropathic|familial renal amyloidosis|German type amyloidosis|amyloidosis familial visceral|amyloidosis, Ostertag type|amyloidosis, systemic Nonneuropathic|amyloidosis 8|amyloidosis familial renal|familial amyloid nephropathy|systemic nonneuropathic amyloidosis|hereditary amyloidosis with primary renal involement SCTID:66451004|OMIM:105200|UMLS:C0268389|DOID:0050636|GARD:0008282|Orphanet:85450|ICD10:E85.0|ICD9:277.39|MESH:C538249 https://rarediseases.info.nih.gov/diseases/8282/amyloidosis-familial-visceral owl:Class HP:0001250 biolink:NamedThing Seizure A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. tmpaxzxjjyw_mondo_relaxed.owl Epilepsy|Seizures|Epileptic seizure SNOMEDCT_US:313307000|SNOMEDCT_US:84757009|SNOMEDCT_US:246545002|UMLS:C0036572|SNOMEDCT_US:91175000|UMLS:C0014544|MSH:D004827|MSH:D012640|SNOMEDCT_US:128613002 A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. HP:0002391|HP:0006997|HP:0002417|HP:0002279|HP:0002182|HP:0002431|HP:0010520|HP:0002466|HP:0002437|HP:0002434|HP:0001303|HP:0002432|HP:0002348|HP:0002430|HP:0002125|HP:0001275|HP:0002794|HP:0002306|HP:0002479 human_phenotype owl:Class MONDO:0006357 biolink:NamedThing parotid gland carcinoma ex pleomorphic adenoma A carcinoma that arises from a pleomorphic adenoma in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. tmpaxzxjjyw_mondo_relaxed.owl carcinoma ex pleomorphic adenoma of parotid gland|parotid gland carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of the parotid gland|parotid carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of parotid|carcinoma ex pleomorphic adenoma of the parotid SCTID:425127006|UMLS:C1335356|NCIT:C5974|EFO:1000461 owl:Class MONDO:0006285 biolink:NamedThing major salivary gland carcinoma ex pleomorphic adenoma A carcinoma that arises from a pleomorphic adenoma in the major salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. tmpaxzxjjyw_mondo_relaxed.owl major salivary gland salivary gland carcinoma ex pleomorphic adenoma|major salivary gland carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of the Major salivary gland|carcinoma ex pleomorphic adenoma of Major salivary gland EFO:1000345|UMLS:C1334550|NCIT:C5975 owl:Class MONDO:0016006 biolink:NamedThing Cockayne syndrome Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl progeria-like syndrome|progeroid nanism|Neill-Dingwall syndrome|Cockayne's syndrome|dwarfism-retinal atrophy-deafness syndrome Orphanet:90321|OMIM:278780|NCIT:C9460|OMIM:214150|OMIM:616570|Orphanet:191|Orphanet:90324|UMLS:C0009207|ICD10:Q87.1|OMIM:133540|Orphanet:90322|MESH:D003057|OMIM:216400|SCTID:21086008|ICD9:759.89|OMIM:610756|OMIM:216411|MedDRA:10009835|OMIM:610758|DOID:2962|GARD:0006122 owl:Class HGNC:6193 biolink:NamedThing JAK3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005287 biolink:NamedThing developmental disability Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) tmpaxzxjjyw_mondo_relaxed.owl MESH:D002658|EFO:0003852 owl:Class GO:0051985 biolink:NamedThing negative regulation of chromosome segregation Any process that stops, prevents, or reduces the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. tmpaxzxjjyw_mondo_relaxed.owl inhibition of chromosome segregation|downregulation of chromosome segregation|down-regulation of chromosome segregation|down regulation of chromosome segregation owl:Class MONDO:0014258 biolink:NamedThing congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome tmpaxzxjjyw_mondo_relaxed.owl Asns deficiency|congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome|ASNSD|asparagine synthetase deficiency Orphanet:391376|OMIM:615574|ICD10:E72.8|UMLS:C3809971 owl:Class MONDO:0002335 biolink:NamedThing chronic inflammatory demyelinating polyneuritis An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms. tmpaxzxjjyw_mondo_relaxed.owl chronic inflammatory demyelinating polyneuropathy SCTID:444728005|ICD9:357.81|ICD10:G61.81|SCTID:128209004|MESH:D020277|NCIT:C84636|DOID:2536 Editor note: todo add polyneuritis owl:Class MONDO:0003335 biolink:NamedThing chronic polyneuropathy Polyneuropathy that is persistent or long-standing in nature. tmpaxzxjjyw_mondo_relaxed.owl polyneuropathy, chronic DOID:5221|NCIT:C36071|UMLS:C1167650 owl:Class MONDO:0018496 biolink:NamedThing ARX-related encephalopathy-brain malformation spectrum tmpaxzxjjyw_mondo_relaxed.owl Orphanet:423655 owl:Class HGNC:3573 biolink:NamedThing FADD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021160 biolink:NamedThing gonococcal cystitis An cystitis caused by infection with Neisseria gonorrhoeae. tmpaxzxjjyw_mondo_relaxed.owl Neisseria gonorrhoeae cystitis|Neisseria gonorrhoeae caused cystitis SCTID:197848003|UMLS:C0473230 owl:Class MONDO:0005247 biolink:NamedThing bacterial urinary tract infection A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. tmpaxzxjjyw_mondo_relaxed.owl infection, urinary tract|urinary tract infection|tract, infection Of urinary|bacterial urinary tract infection (disease)|UTI|urinary tract infection (disease)|urinary tract infectious disease bacterial urinary tract infection (disease) ICD9:599.0|SCTID:68566005|EFO:0003103|NCIT:C50791 owl:Class UBERON:0001272 biolink:NamedThing innominate bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007830 biolink:NamedThing pelvic girdle bone/zone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020127 biolink:NamedThing genetic peripheral neuropathy Genetic peripheral neuropathy. tmpaxzxjjyw_mondo_relaxed.owl genetic peripheral neuropathy Orphanet:98497 owl:Class MONDO:0011605 biolink:NamedThing generalized basaloid follicular hamartoma syndrome Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported. tmpaxzxjjyw_mondo_relaxed.owl GBFHS|basaloid follicular hamartoma syndrome, generalized, autosomal dominant UMLS:C1853919|OMIM:605827|Orphanet:168632|SCTID:766928004|ICD10:Q82.5|MESH:C565284 owl:Class HGNC:7717 biolink:NamedThing NDUFV2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007118 biolink:NamedThing isolated anhidrosis with normal sweat glands Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene. tmpaxzxjjyw_mondo_relaxed.owl isolated generalized anhidrosis with normal sweat glands|anhidrosis caused by mutation in ITPR2|Dann-Epstein-Sohar syndrome|anhidrosis, isolated, with normal sweat glands|ANHD|ITPR2 anhidrosis Orphanet:468666|UMLS:C1862871|OMIM:106190|DOID:0060603 owl:Class MONDO:0004777 biolink:NamedThing acute laryngitis An acute inflammatory process affecting the larynx. It is caused by bacteria, viruses, or vocal strain. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness. tmpaxzxjjyw_mondo_relaxed.owl laryngitis, acute|laryngitis NCIT:C26688|ICD10:J04.0|ICD9:464.00|ICD9:464.01|DOID:9396|ICD9:464.0|SCTID:6655004|UMLS:C0001327 owl:Class UBERON:0007806 biolink:NamedThing connecting stalk tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013160 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan. tmpaxzxjjyw_mondo_relaxed.owl congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2|congenital muscular dystrophy-POMT2 related|muscular dystrophy, congenital, Pomt2-related|congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2|MDDGB2 Orphanet:370968|UMLS:C3150416|Orphanet:370959|NCIT:C126690|OMIM:613156 owl:Class MONDO:0000172 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type B tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:613155|UMLS:CN228400 owl:Class GO:0008406 biolink:NamedThing gonad development The process whose specific outcome is the progression of the gonad over time, from its formation to the mature structure. The gonad is an animal organ that produces gametes; in some species it also produces hormones. tmpaxzxjjyw_mondo_relaxed.owl gonadogenesis owl:Class HGNC:11474 biolink:NamedThing SURF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010038 biolink:NamedThing fundic gastric gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000414 biolink:NamedThing mucous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0040673 biolink:NamedThing malignant peritoneal germ cell tumor A malignant germ cell tumor that affects the peritoneum. tmpaxzxjjyw_mondo_relaxed.owl malignant peritoneal germ cell tumor UMLS:C4526657|NCIT:C136410 owl:Class MONDO:0003113 biolink:NamedThing extragonadal germ cell cancer A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of the extragonadal germ cell|malignant extragonadal germ cell tumor|extragonadal germ cell malignant tumor|malignant tumor of extragonadal germ cell|extragonadal germ cell tumor, malignant|malignant neoplasm of the extragonadal germ cell|tumor of extragonadal germ cell|malignant neoplasm of extragonadal germ cell NCIT:C3918|DOID:4717|UMLS:C0262963|UMLS:C1334581|NCIT:C8881 owl:Class CL:0005009 biolink:NamedThing renal principal cell A cuboidal epithelial cell of the kidney which regulates sodium and potassium balance. The activity of sodium and potassium channels on the cells apical membrane is regulated by aldosterone and vasopressin. In mammals these cells are located in the renal collecting ducts. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0000075 biolink:NamedThing columnar/cuboidal epithelial cell A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0004049 biolink:NamedThing combat disorder Neurotic reactions to unusual, severe, or overwhelming military stress. tmpaxzxjjyw_mondo_relaxed.owl war neurosis|disorders, combat stress|combat neurosis|combat stress disorders|combat stress disorder|combat disorder|combat neuroses|stress disorder, combat|war neuroses|disorder, combat|shell Shocks|Shocks, shell|shock, shell|neurosis, war|shell shock|stress disorders, combat|neurosis, combat|neuroses, war|disorder, combat stress|disorders, combat|neuroses, combat DOID:6950|SCTID:279611005|NCIT:C34498|MESH:D003130 owl:Class MONDO:0003763 biolink:NamedThing acute stress disorder An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by dissociative symptoms; vivid recollections of the traumatic event; avoidance of stimuli associated with the traumatic event; and a constant state of hyperarousal for no more than one month. tmpaxzxjjyw_mondo_relaxed.owl traumatic stress disorder|acute stress reaction MESH:D000068099|ICD9:308.9|Wikipedia:Acute_stress_reaction|DOID:6088|ICD9:308.3|NCIT:C92621|EFO:0005223|ICD10:F43.0|SCTID:67195008 owl:Class MONDO:0007270 biolink:NamedThing cardiomyopathy, familial restrictive, 1 Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene. tmpaxzxjjyw_mondo_relaxed.owl familial isolated restrictive cardiomyopathy caused by mutation in TNNI3|cardiomyopathy, familial restrictive, type 1|Rcm|TNNI3 familial isolated restrictive cardiomyopathy|RCM1|cardiomyopathy, familial restrictive, 1 Orphanet:75249|MESH:C566168|UMLS:C1861861|DOID:0111425|OMIM:115210 owl:Class MONDO:0019150 biolink:NamedThing familial isolated restrictive cardiomyopathy Familial restrictive cardiomyopathy is a genetic form of heart disease, in which the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles. tmpaxzxjjyw_mondo_relaxed.owl familial or idiopathic restrictive cardiomyopathy OMIM:617047|OMIM:615248|ICD10:I42.5|OMIM:115210|OMIM:609578|UMLS:CN205687|Orphanet:75249|OMIM:612422 owl:Class MONDO:0100307 biolink:NamedThing adult Refsum disease due to PEX7 defect An adult Refsum disease in which the cause of the disease is a mutation in the PEX7 gene. tmpaxzxjjyw_mondo_relaxed.owl adult Refsum disease due to PEX7 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100272 biolink:NamedThing peroxisome biogenesis disorder due to PEX7 defect Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene. tmpaxzxjjyw_mondo_relaxed.owl adult refsum disease due to PEX7 defect (formerly)|PEX7 related peroxisome biogenesis disorder|rhizomelic chondrodysplasia punctata type 1 (formerly) http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class NCBITaxon:1489845 biolink:NamedThing Gadoidei tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:8043 biolink:NamedThing Gadiformes tmpaxzxjjyw_mondo_relaxed.owl cods and others GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001035 biolink:NamedThing hypopyon ulcer tmpaxzxjjyw_mondo_relaxed.owl ICD10:H16.03|SCTID:6395007|ICD9:370.04|DOID:10442|UMLS:C0155070 owl:Class ECTO:0000207 biolink:NamedThing exposure to carbon monoxide An exposure to carbon monoxide. tmpaxzxjjyw_mondo_relaxed.owl exposure to carbon monoxide owl:Class HGNC:28958 biolink:NamedThing NUP93 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020575 biolink:NamedThing polymorphic ventricular tachycardia A ventricular tachycardia that is irregular in rate and rhythm. tmpaxzxjjyw_mondo_relaxed.owl polymorphic ventricular tachycardia|ventricular tachycardia, polymorphic UMLS:C0344432|HP:0031677|NCIT:C111648|SCTID:251159007 owl:Class MONDO:0007445 biolink:NamedThing dermatopathia pigmentosa reticularis tmpaxzxjjyw_mondo_relaxed.owl dermatopathia pigmentosa reticularis|DPR MESH:C535374|DOID:0111342|OMIM:125595|ICD10:Q82.4|SCTID:239088003|GARD:0008550|Orphanet:86920 https://rarediseases.info.nih.gov/diseases/8550/dermatopathia-pigmentosa-reticularis owl:Class MONDO:0019289 biolink:NamedThing hyperpigmentation of the skin tmpaxzxjjyw_mondo_relaxed.owl EFO:0009047|SCTID:49765009|HP:0000953|Orphanet:79375|ICD9:709.09 owl:Class MONDO:0013174 biolink:NamedThing primary ciliary dyskinesia 13 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF1 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia 13 with or without situs inversus|ciliary dyskinesia, primary, type 13|ciliary dyskinesia, primary, 13|primary ciliary dyskinesia type 13|primary ciliary dyskinesia caused by mutation in DNAAF1|CILD13|primary ciliary dyskinesia 13|DNAAF1 primary ciliary dyskinesia|ciliary dyskinesia, primary, 13, with or without situs inversus MESH:C567713|UMLS:C2750790|OMIM:613193|ICD10:Q34.8|DOID:0110618|Orphanet:244 owl:Class MONDO:0021662 biolink:NamedThing bile duct neoplasm A benign or malignant neoplasm that affects the intrahepatic or extrahepatic bile ducts. Representative examples of benign neoplasms include bile duct adenoma and extrahepatic bile duct lipoma. Representative examples of malignant neoplasms include intrahepatic and extrahepatic cholangiocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of bile duct|tumor of bile duct|bile duct tumor|bile duct neoplasm|bile duct neoplasm (disease)|intrahepatic and extrahepatic bile duct tumor|intrahepatic and extrahepatic bile duct neoplasm UMLS:C0005396|NCIT:C2898 owl:Class MONDO:0021054 biolink:NamedThing bone sarcoma A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of the bone|osseous sarcoma|bone sarcoma|sarcoma of bone|skeletal sarcoma NCIT:C9312|UMLS:C1704327|Orphanet:223727|ICD9:170.9|DOID:0080639|MedDRA:10006007|SCTID:448710000 owl:Class MONDO:0037254 biolink:NamedThing transitional cell neoplasm tmpaxzxjjyw_mondo_relaxed.owl transitional cell tumor|transitional cell neoplasm NCIT:C6783|UMLS:C0334265 owl:Class CHEBI:25710 biolink:NamedThing organophosphorus compound An organophosphorus compound is formally a compound containing at least one carbon-phosphorus bond, but the term is often extended to include esters and thioesters. tmpaxzxjjyw_mondo_relaxed.owl organophosphorus compound|organophosphorus compounds owl:Class CHEBI:26082 biolink:NamedThing phosphorus molecular entity tmpaxzxjjyw_mondo_relaxed.owl phosphorus molecular entities owl:Class MONDO:0020754 biolink:NamedThing visceral myopathy tmpaxzxjjyw_mondo_relaxed.owl pseudoobstruction, idiopathic intestinal|megaduodenum and/or megacystis|VSCM|infantile visceral myopathy|visceral myopathy OMIM:155310 owl:Class MONDO:0005020 biolink:NamedThing intestinal disorder A non-neoplastic or neoplastic disorder that affects the small or large intestine. tmpaxzxjjyw_mondo_relaxed.owl diseases, intestinal|intestinal disease|disease or disorder of intestine|disease, intestinal|disorder of intestine|disease of intestine|intestine disease|intestinal disorder|intestine disease or disorder MESH:D005767|NCIT:C26801|ICD10:K63.9|ICD9:569.9|ICD9:560-569.99|ICD9:569|ICD9:569.4|ICD9:564|ICD9:520-579.99|DOID:5295|ICD9:570-579.99|ICD9:564.4|SCTID:53619000|ICD9:569.49|ICD9:569.89|MESH:D007410|SCTID:85919009|ICD9:575 owl:Class MONDO:0015365 biolink:NamedThing autosomal dominant hereditary sensory and autonomic neuropathy Autosomal dominant form of hereditary sensory and autonomic neuropathy. tmpaxzxjjyw_mondo_relaxed.owl hereditary sensory and autonomic neuropathy, autosomal dominant Orphanet:140474|UMLS:CN228932|ICD10:G60.8 owl:Class SO:0000673 biolink:NamedThing transcript An RNA synthesized on a DNA or RNA template by an RNA polymerase. tmpaxzxjjyw_mondo_relaxed.owl INSDC_feature:misc_RNA owl:Class SO:0000831 biolink:NamedThing gene_member_region A region of a gene. tmpaxzxjjyw_mondo_relaxed.owl gene member region owl:Class MONDO:0043099 biolink:NamedThing Hordnes Engebretsen Knudtson syndrome tmpaxzxjjyw_mondo_relaxed.owl acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and mental retardation|acrobrachycephaly, ventriculomegaly, pulmonary stenosis, ectopic anus and intellectual disability GARD:0002736|MESH:C536067|UMLS:C2931100 owl:Class MONDO:0032569 biolink:NamedThing isolated growth hormone deficiency, type 5 tmpaxzxjjyw_mondo_relaxed.owl IGHD5|ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V OMIM:618160 owl:Class MONDO:0012183 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl melanoma, cutaneous malignant, susceptibility to, type 3|CMM3|susceptibility to cutaneous malignant melanoma 3|melanoma, cutaneous malignant, susceptibility to, 3 Orphanet:618|OMIM:609048 owl:Class MONDO:0024462 biolink:NamedThing familial cutaneous melanoma An instance of cutaneous melanoma (disease) that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary cutaneous melanoma (disease) OMIMPS:155600 Editor note: consider merge with parent owl:Class MONDO:0002132 biolink:NamedThing skull cancer A malignant neoplasm involving the skull. tmpaxzxjjyw_mondo_relaxed.owl cancer of skull|malignant neoplasm of skull|malignant skull neoplasm|skull cancer DOID:1863|NCIT:C3375 owl:Class UBERON:0002805 biolink:NamedThing right limbic lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002600 biolink:NamedThing limbic lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016281 biolink:NamedThing 46,XX ovotesticular disorder of sex development 46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype. tmpaxzxjjyw_mondo_relaxed.owl ovotesticular DSD|true hermaphroditism|ovotesticular differences of Sex development|46,XX ovotesticular DSD|ovotesticular disorders of Sex development ICD10:Q56.0|OMIM:400045|UMLS:CN776920|SCTID:18978002|UMLS:C2748895|MESH:D050090|NCIT:C127167|Orphanet:2138 owl:Class MONDO:0017961 biolink:NamedThing 46,XX disorder of gonadal development tmpaxzxjjyw_mondo_relaxed.owl Orphanet:325055|UMLS:CN227225 owl:Class HP:0030956 biolink:NamedThing Abnormality of cardiovascular system electrophysiology An anomaly of the electrical conduction physiology of the heart. tmpaxzxjjyw_mondo_relaxed.owl 2017-03-17 17:47:04+00:00 robinp human_phenotype owl:Class MONDO:0009047 biolink:NamedThing cryptorchidism The failure of one or both testes of a male fetus to descend from the abdomen into the scrotum during the late part of pregnancy. If not surgically corrected in early childhood, males may be at increased risk for testicular cancer later in life. tmpaxzxjjyw_mondo_relaxed.owl undescended testes|cryptorchism|undescended testicle|cryptorchidism (disease)|cryptorchidism|undescended testis|cryptorchidism, unilateral or bilateral|undescended testicles cryptorchidism (disease) MESH:D003456|SCTID:204878001|DOID:11383|HP:0000028|ICD9:752.51|ICD9:752.5|OMIM:219050|ICD10:Q53.9|NCIT:C12326|EFO:0004562 owl:Class UBERON:0003216 biolink:NamedThing hard palate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000477 biolink:NamedThing anatomical cluster tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009196 biolink:NamedThing ermine phenotype Cutaneous albinism-ermine phenotype is characterised by the association of white hair with black tufts, depigmented skin and sensorineural deafness. It has been described in two pairs of siblings and one individual case. The depigmentation may present as vitiligo, or be spotted with brown patches. Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease. tmpaxzxjjyw_mondo_relaxed.owl BADS|pigmentary disorder with hearing loss|ermine phenotype|O'Doherty syndrome|BADS syndrome|black locks, oculocutaneous albinism, and deafness of the sensorineural type|black locks with albinism and deafness syndrome ICD9:270.2|UMLS:C0268501|Orphanet:999|OMIM:227010|MESH:C562663|SCTID:10170007|GARD:0000407|ICD10:E70.3|MEDGEN:82812|MESH:C535508|UMLS:C1856899 https://rarediseases.info.nih.gov/diseases/407/ermine-phenotype owl:Class MONDO:0019806 biolink:NamedThing primary progressive aphasia Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA). tmpaxzxjjyw_mondo_relaxed.owl primary progressive aphasia syndrome|Mesulam syndrome|PPA MESH:D018888|NCIT:C85024|EFO:0009053|ICD10:G31.0|GARD:0008541|UMLS:C0282513|Orphanet:95432 owl:Class MONDO:0005559 biolink:NamedThing neurodegenerative disease A disorder of the central nervous system characterized by gradual and progressive loss of neural tissue and neurologic function. tmpaxzxjjyw_mondo_relaxed.owl degenerative disorder of central nervous system|brain degeneration|central nervous system degenerative disorder|neurodegenerative disease|cerebral degeneration disease|degenerative disease|central nervous system neurodegenerative disorder NCIT:C4802|SCTID:362975008|SCTID:80690008|NCIT:C27090|MESH:D019636|ICD10:G31.9|UMLS:C1285162|EFO:0005772|DOID:1289|ICD9:349.89 Editor notes: DO treats this as two diseases owl:Class NCBITaxon:1760 biolink:NamedThing Actinomycetia tmpaxzxjjyw_mondo_relaxed.owl Actinobacteria|High GC gram-positive bacteria|high GC Gram+|high G+C Gram-positive bacteria|Actinomycetes PMID:28840812|PMID:30186281|GC_ID:11|PMID:19244447|PMID:10028260|PMID:11155976|PMID:11321122 NCBITaxon:85003 ncbi_taxonomy owl:Class NCBITaxon:201174 biolink:NamedThing Actinobacteria tmpaxzxjjyw_mondo_relaxed.owl Actinobacteriota|actinobacteria|Actinobacteraeota PMID:16280504|GC_ID:11|PMID:11837318|PMID:26654112|PMID:29458499 ncbi_taxonomy owl:Class GO:1905276 biolink:NamedThing regulation of epithelial tube formation Any process that modulates the frequency, rate or extent of epithelial tube formation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905330 biolink:NamedThing regulation of morphogenesis of an epithelium Any process that modulates the frequency, rate or extent of morphogenesis of an epithelium. tmpaxzxjjyw_mondo_relaxed.owl regulation of epithelium morphogenesis owl:Class MONDO:0003208 biolink:NamedThing breast secretory carcinoma A rare, low grade invasive adenocarcinoma of the breast characterized by the presence of cells that secrete milk-like material. Morphologically, it usually appears as a circumscribed lesion, composed of cystic spaces, tubular structures, and solid areas. tmpaxzxjjyw_mondo_relaxed.owl infiltrating cystic hypersecretory duct breast carcinoma|invasive cystic hypersecretory duct breast carcinoma|secretory breast carcinoma|juvenile breast carcinoma|juvenile carcinoma (formerly)|juvenile secretory carcinoma of breast|juvenile carcinoma of the breast|juvenile carcinoma of the breast (morphologic abnormality)|JSCB|cystic hypersecretory breast carcinoma|juvenile secretory carcinoma of the breast|juvenile carcinoma of breast|cystic hypersecretory carcinoma of the breast|secretory carcinoma|juvenile secretory breast carcinoma|cystic hypersecretory carcinoma of breast|SBC|secretory carcinoma of breast|secretory carcinoma of the breast DOID:4922|MESH:C537535|ICDO:8508/3|ICDO:8502/3|ONCOTREE:JSCB|NCIT:C4189|GARD:0009408|UMLS:C0334371 https://rarediseases.info.nih.gov/diseases/9408/secretory-breast-carcinoma owl:Class MONDO:0004953 biolink:NamedThing invasive ductal breast carcinoma The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both. tmpaxzxjjyw_mondo_relaxed.owl invasive ductal carcinoma|ductal adenocarcinoma|invasive ductal carcinoma, NST|invasive ductal carcinoma, No specific type|invasive ductal carcinoma of the breast|infiltrating ductal carcinoma|infiltrating ductal carcinoma of the breast|invasive ductal carcinoma of breast|infiltrating ductal breast carcinoma|infiltrating ductal adenocarcinoma|breast invasive ductal carcinoma|invasive ductal breast carcinoma|infiltrating ductal carcinoma of breast|invasive ductal adenocarcinoma NCIT:C4017|ICDO:8500/3|ONCOTREE:IDC|ICD9:174.8|MESH:D018270|ICDO:8521/3|EFO:0000186|DOID:3008|NCIT:C4194|SCTID:408643008 owl:Class MONDO:0013104 biolink:NamedThing basal cell carcinoma, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl BCC4|basal cell carcinoma, susceptibility to, 4 OMIM:613061|UMLS:C2751602 owl:Class GO:0002344 biolink:NamedThing B cell affinity maturation The process in which B cells produce antibodies with increased antigen affinity. This is accomplished by somatic hypermutation and selection for B cells which produce higher affinity antibodies to antigen. tmpaxzxjjyw_mondo_relaxed.owl B-cell affinity maturation|B lymphocyte affinity maturation|B-lymphocyte affinity maturation owl:Class GO:0002343 biolink:NamedThing peripheral B cell selection Any B cell selection process that occurs in the periphery. tmpaxzxjjyw_mondo_relaxed.owl peripheral B lymphocyte selection|peripheral B-lymphocyte selection|peripheral B-cell selection owl:Class GO:1902931 biolink:NamedThing negative regulation of alcohol biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of alcohol biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl downregulation of alcohol biosynthetic process|inhibition of alcohol synthesis|inhibition of alcohol anabolism|negative regulation of alcohol synthesis|negative regulation of alcohol formation|negative regulation of alcohol biosynthesis|downregulation of alcohol synthesis|down-regulation of alcohol biosynthetic process|down regulation of alcohol biosynthetic process|downregulation of alcohol biosynthesis|inhibition of alcohol formation|negative regulation of solventogenesis|down-regulation of alcohol formation|downregulation of alcohol anabolism|down regulation of alcohol biosynthesis|down regulation of alcohol formation|negative regulation of alcohol anabolism|downregulation of alcohol formation|down-regulation of alcohol biosynthesis|down-regulation of alcohol synthesis|inhibition of alcohol biosynthesis|down-regulation of alcohol anabolism|down regulation of alcohol synthesis|down regulation of alcohol anabolism|inhibition of alcohol biosynthetic process owl:Class GO:1902930 biolink:NamedThing regulation of alcohol biosynthetic process Any process that modulates the frequency, rate or extent of alcohol biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of alcohol synthesis|regulation of alcohol formation|regulation of alcohol biosynthesis|regulation of solventogenesis|regulation of alcohol anabolism owl:Class UBERON:0004792 biolink:NamedThing secretion of endocrine pancreas tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35524 biolink:NamedThing sympathomimetic agent A drug that mimics the effects of stimulating postganglionic adrenergic sympathetic nerves. Included in this class are drugs that directly stimulate adrenergic receptors and drugs that act indirectly by provoking the release of adrenergic transmitters. tmpaxzxjjyw_mondo_relaxed.owl sympathomimetics|sympathomimetic owl:Class CHEBI:37962 biolink:NamedThing adrenergic agent Any agent that acts on an adrenergic receptor or affects the life cycle of an adrenergic transmitter. tmpaxzxjjyw_mondo_relaxed.owl adrenergics|adrenergic agents|adrenergic neuron agents|adrenergic drugs|adrenergic drug owl:Class MONDO:0000694 biolink:NamedThing seasonal affective disorder A syndrome characterized by depressions that recur annually at the same time each year, usually during the winter months. Other symptoms include anxiety, irritability, decreased energy, increased appetite (carbohydrate cravings), increased duration of sleep, and weight gain. sad (seasonal affective disorder) can be treated by daily exposure to bright artificial lights (phototherapy), during the season of recurrence. tmpaxzxjjyw_mondo_relaxed.owl seasonal affective disorder|SADS|sad|winter depression DOID:0060167|SCTID:247803002|ICD9:296.99|MESH:D016574 owl:Class HGNC:19321 biolink:NamedThing NKX6-2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003672 biolink:NamedThing dentition tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034925 biolink:NamedThing anatomical collection tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12601 biolink:NamedThing USH2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006927 biolink:NamedThing Rickettsiaceae infectious disease Infections with bacteria of the family rickettsiaceae. tmpaxzxjjyw_mondo_relaxed.owl Rickettsiaceae infection|Rickettsiaceae disease or disorder|rickettsialpox|Rickettsiaceae caused disease or disorder|infections, Rickettsiaceae|infection, Rickettsiaceae MESH:D012288|EFO:1001128 owl:Class GO:1901362 biolink:NamedThing organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. tmpaxzxjjyw_mondo_relaxed.owl organic cyclic compound biosynthesis|organic cyclic compound formation|organic cyclic compound anabolism|organic cyclic compound synthesis owl:Class GO:1901360 biolink:NamedThing organic cyclic compound metabolic process The chemical reactions and pathways involving organic cyclic compound. tmpaxzxjjyw_mondo_relaxed.owl organic cyclic compound metabolism owl:Class MONDO:0007497 biolink:NamedThing ear antitragus, tag at base of tmpaxzxjjyw_mondo_relaxed.owl ear antitragus, tag at base of OMIM:128290 owl:Class MONDO:0015438 biolink:NamedThing ring chromosome 22 Ring chromosome 22 is a rare condition caused by having an abnormal chromosome 22 that forms a ring. In this chromosome abnormality,a segment on the short (p) arm and a segment on the long (q) arm of 22 are missing. The amount of material lost varies from person to person. The remaining ends of chromosome 22 have joined together to make a ring shape. Chromosome 22 is an acrocentric chromosome, meaning that the centromere is near one end, creating a very small short (p) arm that does not contain genes that are relevant to development. Thus, only the lost genes on the long (q) arm matter. Knowing the breakpoint in the long arm is likely more helpful. Most cases are sporadic (happen by chance) and occur in people with no history of the condition in their family. tmpaxzxjjyw_mondo_relaxed.owl Ring 22|chromosome 22 ring|Ring chromosome type 22|r(22) syndrome|R22|Ring chromosome 22 syndrome SCTID:13555004|MESH:C536795|ICD10:Q93.2|UMLS:CN036599|GARD:0001336|Orphanet:1446 https://rarediseases.info.nih.gov/diseases/1336/ring-chromosome-22 owl:Class MONDO:0700091 biolink:NamedThing ring chromosome disorder Chromosomal anomaly consisting of the presence of a ring chromosome. A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome. tmpaxzxjjyw_mondo_relaxed.owl supernumerary circular chromosome UMLS:C0035639|MESH:D012303|NCIT:C3360 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0005736 biolink:NamedThing eastern equine encephalitis Eastern equine encephalitis (EEE) is an acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that is characterized by the onset of flulike symptoms including fever, chills, weakness, headache, vomiting, abdominal pain with diarrhea, myalgia, leucocytosis, and hematuria, rapidly progressing to diffuse central nervous system (CNS) involvement with confusion, somnolence, or even coma. Seizures, which may progress to status epilepticus and neurologic sequelae, cranial nerve palsies, and photophobia may occur. EEE is associated with a high rate of morbidity and mortality. tmpaxzxjjyw_mondo_relaxed.owl Eastern equine encephalomyelitis|EEE|Neuroinvasive Eastern equine encephalitis virus infection Orphanet:83594|GARD:0010821|EFO:0007242|DOID:10841|MedDRA:10014587|MESH:D020242|ICD10:A83.2|ICD9:062.2|UMLS:C0153065 https://rarediseases.info.nih.gov/diseases/10821/eastern-equine-encephalitis owl:Class MONDO:0007856 biolink:NamedThing palmoplantar keratoderma-esophageal carcinoma syndrome Tylosis with esophageal cancer (TOC) is an inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern. tmpaxzxjjyw_mondo_relaxed.owl keratosis palmaris Et plantaris with esophageal cancer|palmoplantar keratoderma with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|keratosis palmaris et plantaris with esophageal cancer|tylosis with esophageal cancer|keratosis palmoplantaris-esophageal carcinoma syndrome|Bennion-Patterson syndrome|keratosis palmoplantaris with esophageal cancer|palmoplantar keratoderma-esophageal carcinoma syndrome|Howell-Evans syndrome|howel-Evans syndrome|tylosis - oesophageal carcinoma|tylosis-oesophageal carcinoma syndrome|Toc MESH:C536164|SCTID:111030006|OMIM:148500|GARD:0003102|DOID:0111506|Orphanet:2198 https://rarediseases.info.nih.gov/diseases/3102/tylosis-with-esophageal-cancer owl:Class MONDO:0017672 biolink:NamedThing focal palmoplantar keratoderma tmpaxzxjjyw_mondo_relaxed.owl focal PPK|focal palmoplantar hyperkeratosis|focal keratosis palmoplantaris ICD10:Q82.8|Orphanet:307837 owl:Class MONDO:0011672 biolink:NamedThing persistent polyclonal B-cell lymphocytosis Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly. tmpaxzxjjyw_mondo_relaxed.owl persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes|persistent polyclonal B-cell lymphocytosis|PPBL UMLS:C1847973|OMIM:606445|Orphanet:300324|ICD10:I72.8|MESH:C564707|SCTID:763864008 owl:Class MONDO:0005494 biolink:NamedThing triple-negative breast carcinoma An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). tmpaxzxjjyw_mondo_relaxed.owl triple-negative breast cancer|triple-negative breast carcinoma|triple-receptor negative breast cancer NCIT:C71732|SCTID:706970001|DOID:0060081|UMLS:C3539878|MESH:D064726|EFO:0005537 owl:Class MONDO:0008383 biolink:NamedThing rheumatoid arthritis A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor. tmpaxzxjjyw_mondo_relaxed.owl autoimmune arthritis|arthritis or polyarthritis, rheumatic|rheumatoid arthritis, susceptibility to|rheumatoid arthritis|arthritis, rheumatoid|atrophic arthritis|RA ICD10:M06.9|SCTID:69896004|NCIT:C2884|EFO:0000685|MESH:D001172|OMIM:180300|DOID:7148|ICD9:714.0|UMLS:C0003873|Orphanet:284130|KEGG:05323|OMIM:604302 owl:Class MONDO:0014033 biolink:NamedThing dystonia 25 Autosomal dominant focal dystonia, DTY25 is a form of focal dystonia, characterized by cervical, laryngeal and hand-forearm dystonia. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant focal dystonia, DYT25 type|dystonic disorder caused by mutation in GNAL|dystonia 25|DYT25|GNAL dystonic disorder|dystonia type 25 ICD10:G24.1|UMLS:C3554447|DOID:0090055|OMIM:615073|Orphanet:329466 owl:Class MONDO:0000478 biolink:NamedThing multifocal dystonia A dystonia that involves two or more unrelated body parts. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050837 owl:Class MONDO:0009644 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency type B tmpaxzxjjyw_mondo_relaxed.owl MOCODB|MOCOD type B|sulfite oxidase deficiency due to molybdenum cofactor deficiency type B|molybdenum cofactor deficiency complementation group B|molybdenum cofactor deficiency type B|molybdenum cofactor deficiency, complementation group type B|molybdenum cofactor deficiency, complementation group B|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B Orphanet:833|PMID:10053004|DOID:0111163|ICD10:E72.1|Orphanet:99732|OMIM:252160|UMLS:C1854989|Orphanet:308393|MESH:C565373 owl:Class MONDO:0017979 biolink:NamedThing autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma. tmpaxzxjjyw_mondo_relaxed.owl autoimmune lymphoproliferative syndrome type 1, autosomal dominant|Canale-Smith syndrome|ALPS|ALPS (autoimmune lymphoproliferative syndrome)|FAS deficiency SCTID:702444009|CSP:1560-5548|ICD10:D47.9|OMIM:601859|ICD10:D89.82|ICD9:279.41|OMIM:615559|UMLS:C1328840|DOID:6688|OMIM:603909|GARD:0008686|NCIT:C37864|Orphanet:3261|MedDRA:10069521|MESH:D056735 owl:Class MONDO:0002627 biolink:NamedThing chondroblastic osteosarcoma An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation. tmpaxzxjjyw_mondo_relaxed.owl CHOS|chondroblastic osteogenic sarcoma|chondrosarcomatous osteogenic sarcoma|chondroblastic osteosarcoma|chondroblastic osteosarcoma (morphologic abnormality) DOID:3372|ICDO:9181/3|UMLS:C0279603|NCIT:C4021|ONCOTREE:CHOS owl:Class MONDO:0002631 biolink:NamedThing conventional osteosarcoma A high grade malignant bone-forming mesenchymal neoplasm producing osteoid. The tumor arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. tmpaxzxjjyw_mondo_relaxed.owl intracortical osteosarcoma (morphologic abnormality)|medullary osteosarcoma|conventional central osteosarcoma|intracortical osteogenic sarcoma|intracortical osteosarcoma|central osteosarcoma|conventional osteosarcoma ICDO:9195/3|DOID:7602|UMLS:C1266166|NCIT:C35870|DOID:3378|ICDO:9186/3 owl:Class MONDO:0043251 biolink:NamedThing odontoma A benign, slow growing, and painless hamartomatous tumor occurring in tooth-bearing areas of the jaws. According to the presence or absence of tooth-like structures, it is classified as complex type or compound type. Odontoma of complex type is characterized by the presence of enamel and dentin and the absence of tooth-like structures. It is treated with local excision. If it is incompletely removed, it may recur. Odontoma of compound type is characterized by the presence of tooth-like structures. It is treated by local excision. Recurrences have not been reported. tmpaxzxjjyw_mondo_relaxed.owl odontomas, compound|odontoma, compound|fibro-odontoma, ameloblastic|fibroodontoma|ameloblastic fibro-odontoma|fibro-odontoma|compound odontoma|compound odontomas|fibro-odontomas, ameloblastic|fibro odontoma|odontoma, benign|ameloblastic fibro-odontomas|fibro-odontomas|odontomas|fibroodontomas|fibro odontoma, ameloblastic|odontoma ICDO:9280/0|MESH:D009810|NCIT:C3287|GARD:0007247 owl:Class CHEBI:73181 biolink:NamedThing EC 1.11.1.11 (L-ascorbate peroxidase) inhibitor An EC 1.11.1.* (peroxidases) inhibitor that inhibits the action of L-ascorbate peroxidase (EC 1.11.1.11). tmpaxzxjjyw_mondo_relaxed.owl L-ascorbic acid peroxidase inhibitors|EC 1.11.1.11 inhibitor|ascorbate peroxidase inhibitors|L-ascorbate:hydrogen-peroxide oxidoreductase inhibitor|L-ascorbate:hydrogen-peroxide oxidoreductase inhibitors|L-ascorbate peroxidase (EC 1.11.1.11) inhibitors|EC 1.11.1.11 inhibitors|L-ascorbate peroxidase inhibitor|L-ascorbate peroxidase inhibitors|EC 1.11.1.11 (L-ascorbate peroxidase) inhibitors|L-ascorbic acid-specific peroxidase inhibitors|L-ascorbate peroxidase (EC 1.11.1.11) inhibitor|ascorbic acid peroxidase inhibitors|ascorbate peroxidase inhibitor|ascorbic acid peroxidase inhibitor|L-ascorbic acid peroxidase inhibitor|L-ascorbic acid-specific peroxidase inhibitor owl:Class CHEBI:75381 biolink:NamedThing EC 1.11.1.* (peroxidases) inhibitor An EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor that interferes with the action of any of the peroxidases (EC 1.11.1.*). tmpaxzxjjyw_mondo_relaxed.owl EC 1.11.1 inhibitors|EC 1.11.1.* inhibitors|EC 1.11.1.* (peroxidases) inhibitors|EC 1.11.1.* inhibitor|EC 1.11.1.* (peroxidase) inhibitor|inhibitors of peroxidases|peroxidases inhibitors|EC 1.11.1.* (peroxidase) inhibitors|inhibitor of peroxidases|EC 1.11.1 inhibitor owl:Class MONDO:0002309 biolink:NamedThing papillary conjunctivitis Conjunctivitis that is characterized by the formation of papillae on the palpebral conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35616|UMLS:C0854165|DOID:2458|ICD9:372.39|SCTID:416878008 owl:Class MONDO:0003799 biolink:NamedThing conjunctivitis Inflammation of the conjunctiva of the eye. tmpaxzxjjyw_mondo_relaxed.owl pink eye|conjunctivitis|inflammation of conjunctiva|conjunctiva inflammation|Madras eye|conjunctivitis (disease) conjunctivitis (disease) ICD9:372.39|HP:0000509|ICD10:H10.9|ICD9:372.30|DOID:6195|NCIT:C34504|ICD10:H10|MESH:D003231|SCTID:9826008|UMLS:C0009763 owl:Class CHEBI:50819 biolink:NamedThing ferric oxide tmpaxzxjjyw_mondo_relaxed.owl Eisen(III)-oxid|Eisentrioxid|iron trioxide|diiron trioxide|iron(3+) oxide|iron(III) oxide owl:Class CHEBI:50816 biolink:NamedThing iron oxide tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018274 biolink:NamedThing GM3 synthase deficiency GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications. tmpaxzxjjyw_mondo_relaxed.owl epilepsy syndrome, infantile-onset symptomatic|salt-and-pepper syndrome|ST3GAL5-CDG|salt and pepper mental retardation syndrome|Amish infantile epilepsy syndrome|salt and pepper developmental regression syndrome|lactosylceramide alpha-2,3-sialyltransferase activity disease|disorder of lactosylceramide alpha-2,3-sialyltransferase activity|salt & pepper syndrome|infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness|SPDRS|GM3 synthase deficiency|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome Orphanet:171714|Orphanet:370933|UMLS:CN204860|OMIM:609056|UMLS:C1836824|ICD10:E77.8|Orphanet:370938|DOID:0060470|GARD:0012059|SCTID:722762005 owl:Class OBO:CHR_9606-chr20 biolink:NamedThing chromosome 20 (Human) tmpaxzxjjyw_mondo_relaxed.owl 20 64444167 0 hg38 owl:Class MONDO:0018592 biolink:NamedThing cutaneous polyarteritis nodosa Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy. tmpaxzxjjyw_mondo_relaxed.owl cutaneous PAN|cutaneous periarteritis nodosa ICD10:M30.0|SCTID:239926000|Orphanet:439729|ICD9:709.8|UMLS:C0343190|NCIT:C117295|GARD:0007415|UMLS:CN242143 https://rarediseases.info.nih.gov/diseases/7415/cutaneous-polyarteritis-nodosa owl:Class MONDO:0018593 biolink:NamedThing primary polyarteritis nodosa tmpaxzxjjyw_mondo_relaxed.owl primary periarteritis nodosa|primary PAN ICD10:M30.0|Orphanet:439737|UMLS:CN237623 owl:Class MONDO:0011241 biolink:NamedThing pseudoacromegaly with severe insulin resistance tmpaxzxjjyw_mondo_relaxed.owl pseudoacromegaly with severe insulin resistance UMLS:C1865284|OMIM:602511|MESH:C566531 owl:Class MONDO:0013336 biolink:NamedThing chromosome 19p13.13 deletion syndrome 19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). tmpaxzxjjyw_mondo_relaxed.owl Del(19)(p13.13)|chromosome 19P13.13 Duplication syndrome|chromosome 19p13.13 deletion syndrome|monosomy 19p13.13|19p13.13 microdeletion syndrome SCTID:764440006|OMIM:613638|Orphanet:357001|ICD10:Q93.5|UMLS:C3150894|UMLS:CN204595|DOID:0060426 owl:Class NCBITaxon:2732415 biolink:NamedThing Cossaviricota tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732092 biolink:NamedThing Shotokuvirae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:9403 biolink:NamedThing PRKCH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017474 biolink:NamedThing macrodactyly of fingers tmpaxzxjjyw_mondo_relaxed.owl macrodactyly of the hand|megalodactylism of the hand|macrodactyly of hand|Megalodactyly of the hand ICD10:Q74.0|Orphanet:295044|HP:0100746|SCTID:297195000|GARD:0008529|MESH:C537720 owl:Class MONDO:0005215 biolink:NamedThing vulvar carcinoma A carcinoma that arises from epithelial cells of the mammalian vulva tmpaxzxjjyw_mondo_relaxed.owl carcinoma of mammalian vulva|vulva carcinoma|carcinoma of the vulva|cancer of the vulva|vulvar carcinoma|mammalian vulva carcinoma|cancer of vulva|vulvar cancer|carcinoma of vulva|vulva cancer DOID:1294|UMLS:C0677055|EFO:0002921|NCIT:C4866|MESH:D014846|SCTID:447882007|Orphanet:494418|DOID:1245 owl:Class MONDO:0016833 biolink:NamedThing 14q12 microdeletion syndrome 14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months. tmpaxzxjjyw_mondo_relaxed.owl Del(14)(q12)|monosomy 14q12 Orphanet:261144|UMLS:CN202163|SCTID:719574007|ICD10:Q93.5|UMLS:C4305240 owl:Class MONDO:0008147 biolink:NamedThing osteogenesis imperfecta type 2 Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera. tmpaxzxjjyw_mondo_relaxed.owl osteogenesis imperfecta type II|lethal osteogenesis imperfecta|Perinatally lethal OI|osteogenesis imperfecta congenita|perinatal lethal osteogenesis imperfecta congenita|OI, type 2|osteogenesis imperfecta congenita perinatal lethal form|Vrolik type of osteogenesis imperfecta|OI type 2|osteogenesis imperfecta, type II|osteogenesis imperfecta type 2|osteogenesis imperfecta congenita, perinatal lethal form|OI2|osteogenesis imperfecta, type 2 OMIM:610915|Orphanet:216804|OMIM:259440|OMIM:166210|GARD:0010142|OMIM:610682|SCTID:86470003|MESH:C536042|UMLS:CN536250|ICD10:Q78.0|NCIT:C99001|DOID:0110341 owl:Class MONDO:0019019 biolink:NamedThing osteogenesis imperfecta Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity. tmpaxzxjjyw_mondo_relaxed.owl Vrolik disease|Fragilitas ossium|Osteopsathyrosis|brittle bone disease|glass bone disease|Lobstein disease|Vrolik's disease|Lobstein's syndrome|Porak and Durante disease|OI OMIM:166220|OMIM:610968|OMIM:613848|DOID:12347|OMIMPS:166200|ICD10:Q78.0|UMLS:C0029434|MESH:D010013|OMIM:610967|OMIM:610915|SCTID:385482004|OMIM:166200|SCTID:78314001|MedDRA:10031243|OMIM:615220|GARD:0001017|OMIM:166230|OMIM:613982|OMIM:259440|Orphanet:666|NCIT:C26837|OMIM:616507|OMIM:166210|ICD9:756.51|NCIT:C99003|OMIM:610682|UMLS:C1859069|OMIM:613849|OMIM:615066|OMIM:614856|OMIM:616229|OMIM:259420 https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta owl:Class MONDO:0004125 biolink:NamedThing rectum leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the rectum. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of the rectum|leiomyoma of rectum|rectum leiomyoma|rectal leiomyoma DOID:7160|NCIT:C5552|UMLS:C1335682 owl:Class MONDO:0003299 biolink:NamedThing colorectal leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the colorectal area. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl colorectum leiomyoma|large bowel leiomyoma|large intestine leiomyoma|leiomyoma of large bowel|leiomyoma of the large intestine|leiomyoma of the large bowel|leiomyoma of large intestine|colorectal leiomyoma DOID:5143|UMLS:C1333113|NCIT:C5677 owl:Class UBERON:0004141 biolink:NamedThing heart tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004421 biolink:NamedThing proximal epiphysis of phalanx of manual digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071383 biolink:NamedThing cellular response to steroid hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071407 biolink:NamedThing cellular response to organic cyclic compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. tmpaxzxjjyw_mondo_relaxed.owl cellular response to organic cyclic substance owl:Class MONDO:0011331 biolink:NamedThing congenital chylothorax Congenital chylothorax is a rare, potentially life-threatening neonatal condition characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. Congenital chylothorax is the most common cause of pleural effusion in neonates; it can occur primarily due to developmental anomalies of the lymphatic duct or can be associated with chromosomal anomalies (e.g. Noonan syndrome, Turner syndrome and Down syndrome), hydrops fetalis, mediastinal neuroblastoma and other congenital malformations. tmpaxzxjjyw_mondo_relaxed.owl chylothorax, congenital|hydrothorax, congenital ICD9:511.89|MESH:C535461|Orphanet:264688|OMIM:603523|UMLS:C0340014|ICD10:I89.8|DOID:0060646|GARD:0010156|SCTID:233646003 https://rarediseases.info.nih.gov/diseases/10156/chylothorax-congenital owl:Class MONDO:0002037 biolink:NamedThing pleural disorder A non-neoplastic or neoplastic disorder that affects the pleura. Representative examples include pleural infection, pleural mesothelioma, and pleural solitary fibrous tumor. tmpaxzxjjyw_mondo_relaxed.owl pleural disorders|disease or disorder of pleura|pleural disorder|pleura disease|non-neoplastic pleural disease|disease of pleura|pleura disease or disorder|disorder of pleura NCIT:C26859|ICD9:518.89|MESH:D010995|DOID:1532|SCTID:88075009|UMLS:C0032226 owl:Class MONDO:0012463 biolink:NamedThing retinitis pigmentosa 35 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SEMA4A gene. tmpaxzxjjyw_mondo_relaxed.owl RP 35|retinitis pigmentosa 35|retinitis pigmentosa caused by mutation in SEMA4A|retinitis pigmentosa type 35|SEMA4A retinitis pigmentosa|RP35 MESH:C565206|OMIM:610282|UMLS:C1853214|DOID:0110357|GARD:0010402|ICD10:H35.5|Orphanet:791 https://rarediseases.info.nih.gov/diseases/10402/retinitis-pigmentosa-35 owl:Class CL:0000307 biolink:NamedThing tracheal epithelial cell An epithelial cell found in the trachea. tmpaxzxjjyw_mondo_relaxed.owl tracheocyte FMA:74793 This class is for the vertebrate tracheal structure. For the analagous insect cell type, see 'respiratory tube epithelial cell' CL:1000474 cell owl:Class MONDO:0010475 biolink:NamedThing X-linked central congenital hypothyroidism with late-onset testicular enlargement An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency. tmpaxzxjjyw_mondo_relaxed.owl X-linked central congenital hypothyroidism with late-onset testicular enlargement|central hypothyroidism and testicular enlargement|hypothyroidism Central and testicular enlargement|hypothyroidism, central, and testicular enlargement|IGSF1 deficiency syndrome|Immunoglobulin superfamily member 1 deficiency syndrome|CHTE|X-linked central congenital hypothyroidism with late-onset macroorchidism UMLS:C3550963|Orphanet:329235|OMIM:300888|ICD10:E03.1|NCIT:C130989|DOID:0111140 owl:Class MONDO:0006418 biolink:NamedThing small intestinal enteropathy-associated T-cell lymphoma An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate. tmpaxzxjjyw_mondo_relaxed.owl small intestinal EATL|enteropathy-associated T-cell lymphoma of small intestine|small intestinal enteropathy-type T-cell lymphoma|small intestine enteropathy-associated T-cell lymphoma UMLS:C1519371|NCIT:C39610|EFO:1000535 owl:Class MONDO:0014032 biolink:NamedThing brachydactyly type A1C Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, type A1, C|GDF5 brachydactyly type A1|brachydactyly type A1 caused by mutation in GDF5|BDA1C OMIM:615072|Orphanet:93388|DOID:0110977|UMLS:C3554446 owl:Class MONDO:0007215 biolink:NamedThing brachydactyly type A1 Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly Farabee type|brachydactyly, type A1|Farabee type brachydactyly|brachydactyly, Farabee type|BDA1|Farabee-type brachydactyly Orphanet:93388|UMLS:C1862151|SCTID:715720006|GARD:0000978|DOID:0110964|ICD10:Q73.8|OMIM:616849|OMIM:607004|MESH:C537088|OMIM:615072 https://rarediseases.info.nih.gov/diseases/978/brachydactyly-type-a1 owl:Class MONDO:0005858 biolink:NamedThing mucinous cystadenocarcinoma An invasive adenocarcinoma characterized by cystic changes and the presence of malignant glandular cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung. tmpaxzxjjyw_mondo_relaxed.owl mucinous cystadenocarcinoma|mucinous cystadenocarcinoma (morphologic abnormality)|mucinous cystadenocarcinoma NOS (morphologic abnormality)|Pseudomucinous cystadenocarcinoma|Pseudomucinous adenocarcinoma DOID:3603|EFO:0007378|UMLS:C0206699|ICDO:8470/3|NCIT:C3776|MESH:D018282 owl:Class GO:1904479 biolink:NamedThing negative regulation of intestinal absorption Any process that stops, prevents or reduces the frequency, rate or extent of intestinal absorption. tmpaxzxjjyw_mondo_relaxed.owl inhibition of intestinal absorption|down regulation of intestinal absorption|downregulation of intestinal absorption|down-regulation of intestinal absorption owl:Class ENVO:01001689 biolink:NamedThing mass of gas An object which is composed primarily of a gas. tmpaxzxjjyw_mondo_relaxed.owl gaseous mass owl:Class ENVO:01001688 biolink:NamedThing mass of fluid An object which is composed primarily of a fluid. tmpaxzxjjyw_mondo_relaxed.owl fluid mass owl:Class MONDO:0006092 biolink:NamedThing appendix villous adenoma An adenoma arising from the appendix. It is characterized by the presence of villous epithelial structures and it is associated with dysplasia. tmpaxzxjjyw_mondo_relaxed.owl villous adenoma of the appendix|villous adenoma of appendix|appendix villous adenoma|vermiform appendix villous adenoma EFO:1000093|NCIT:C5512|UMLS:C1332329 owl:Class MONDO:0014034 biolink:NamedThing severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of GATAD2B on chromosome 1q21.3. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal dominant type 18|intellectual disability, autosomal dominant type 18|autosomal dominant intellectual disability 18|MRD18|autosomal dominant mental retardation 18|autosomal dominant non-syndromic intellectual disability 18|mental retardation, autosomal dominant 18|severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome|GATAD2B-associated neurodevelopmental disorder|intellectual disability, autosomal dominant 18 DOID:0070048|OMIM:615074|UMLS:C3554448|GARD:0012815|ICD10:Q87.8|Orphanet:363686 owl:Class GO:0006874 biolink:NamedThing cellular calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. tmpaxzxjjyw_mondo_relaxed.owl regulation of calcium ion concentration owl:Class GO:0072503 biolink:NamedThing cellular divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of divalent cations at the level of a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004015 biolink:NamedThing pineal region teratoma A mature or immature teratoma that arises in the pineal region. tmpaxzxjjyw_mondo_relaxed.owl teratoma of the pineal region|teratoma of the pineal area|teratoma of pineal region|pineal area teratoma|teratoma of pineal area UMLS:C1335419|DOID:6856|NCIT:C6753 owl:Class MONDO:0002718 biolink:NamedThing central nervous system teratoma A mature or immature teratoma that affects the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl teratoma of central nervous system|CNS teratoma|teratoma of the central nervous system|central nervous system teratoma|teratoma of CNS|teratoma of the CNS UMLS:C1332895|Orphanet:252018|DOID:3640|NCIT:C5441 owl:Class NCBITaxon:12091 biolink:NamedThing Hepatovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012958 biolink:NamedThing multiple sclerosis, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl multiple sclerosis, susceptibility to, 4|MS4 OMIM:612596 owl:Class GO:0014049 biolink:NamedThing positive regulation of glutamate secretion Any process that activates or increases the frequency, rate or extent of the controlled release of glutamate. tmpaxzxjjyw_mondo_relaxed.owl activation of glutamate secretion|upregulation of glutamate secretion|stimulation of glutamate secretion|up regulation of glutamate secretion|up-regulation of glutamate secretion owl:Class UBERON:0003504 biolink:NamedThing respiratory system blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014848 biolink:NamedThing TELO2-related intellectual disability-neurodevelopmental disorder tmpaxzxjjyw_mondo_relaxed.owl YHFS|you-Hoover-Fong syndrome UMLS:C4310778|OMIM:616954|EFO:0009061|Orphanet:488642 owl:Class HGNC:2079 biolink:NamedThing CLN8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019366 biolink:NamedThing free sialic acid storage disease Free sialic acid storage disease (free SASD), is a group of lysosomal storage diseases characterized by a spectrum of clinical manifestations including neurological and developmental disorders with severity ranging from the milder phenotype, Salla disease (SD), to the most severe phenotype, infantile free sialic acid storage disease (ISSD). tmpaxzxjjyw_mondo_relaxed.owl free sialic acid storage disease UMLS:C2931872|MedDRA:10067531|OMIM:269920|UMLS:CN206051|OMIM:604369|ICD10:E77.8|MESH:C538523|Orphanet:834|GARD:0010870|MedDRA:10067529 owl:Class UBERON:0004985 biolink:NamedThing mucosa of ejaculatory duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019042 biolink:NamedThing reproductive system mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017721 biolink:NamedThing Sandhoff disease, infantile form tmpaxzxjjyw_mondo_relaxed.owl Hexosaminidases A and B deficiency, infantile form|infantile GM2 gangliosidosis 0 variant OMIM:268800|ICD10:E75.0|UMLS:CN203617|Orphanet:309155 owl:Class MONDO:0010006 biolink:NamedThing Sandhoff disease Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration. tmpaxzxjjyw_mondo_relaxed.owl GM2 gangliosidosis 0 variant|Hexosaminidases a and B deficiency|Sandhoff disease, infantile type|total hexosaminidase deficiency|Sandhoff-Jatzkewitz-Pilz disease|Hexosaminidases A and B deficiency|Sandhoff disease, juvenile type|Sandhoff disease|Sandhoff disease, adult type|hexosaminidase A and B deficiency disease|Beta-hexosaminidase-beta-subunit deficiency|GM2 gangliosidosis, type 2|GM2-gangliosidosis, type 2|Sandhoff Jatzkewitz disease|GM2 gangliosidosis, 0 variant OMIM:268800|GARD:0007604|GARD:0002521|Orphanet:309155|SCTID:23849003|NCIT:C85052|MESH:D012497|DOID:3323|Orphanet:796|Orphanet:309169|ICD10:E75.01|Orphanet:309162|UMLS:C0036161|ICD10:E75.0 owl:Class MONDO:0025598 biolink:NamedThing pneumonia caused by chlamydia An pneumonia caused by infection with Chlamydia. tmpaxzxjjyw_mondo_relaxed.owl Chlamydia caused pneumonia|Chlamydia pneumonia|chlamydial pneumonia|chlamydia pneumonia ICD9:483.1|ICD10:J16.0|SCTID:233609002|MESH:D061387|DOID:0040083|UMLS:C0339959 owl:Class MONDO:0041850 biolink:NamedThing pneumonia caused by gram negative bacteria tmpaxzxjjyw_mondo_relaxed.owl pneumonia due to gram negative bacteria|pneumonia caused by gram-negative bacteria|pneumonia due to gram-negative bacteria|gram negative pneumonia|pneumonia caused by gram negative bacteria SCTID:430395005|UMLS:C0854248 owl:Class MONDO:0015844 biolink:NamedThing agenesis and aplasia of uterine body tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q51.0|Orphanet:180142 owl:Class MONDO:0015829 biolink:NamedThing non-syndromic uterovaginal malformation A uterovaginal malformation that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic uterovaginal malformation|isolated uterovaginal malformation Orphanet:180065 owl:Class MONDO:0016656 biolink:NamedThing 7q31 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl monosomy 7q31|Del(7)(q31) Orphanet:251061|UMLS:CN201886|ICD10:Q93.5 owl:Class MONDO:0016906 biolink:NamedThing partial deletion of the long arm of chromosome 7 Chromosome 7q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl monosomy 7q|partial monosomy of chromosome 7q|7q monosomy|7q deletion|partial deletion of the long arm of chromosome type 7|partial monosomy 7q|partial deletion of chromosome 7q|deletion 7q|partial monosomy of the long arm of chromosome 7|loss of chromosome 7q|del(7q) NCIT:C36408|Orphanet:262056|GARD:0003765|ICD10:Q93.5 owl:Class MONDO:0060457 biolink:NamedThing autoinflammation with arthritis and dyskeratosis tmpaxzxjjyw_mondo_relaxed.owl AUTOINFLAMMATION with arthritis and dyskeratosis|AIADK OMIM:617388 owl:Class ENVO:03600001 biolink:NamedThing chemically contaminated sediment Sediment which contains some chemical contaminant. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00002007 biolink:NamedThing sediment Sediment is an environmental substance comprised of any particulate matter that can be transported by fluid flow and which eventually is deposited as a layer of solid particles on the bedor bottom of a body of water or other liquid. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015566 biolink:NamedThing 2q24 microdeletion syndrome 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. tmpaxzxjjyw_mondo_relaxed.owl monosomy 2q24|Del(2)(q24)|2q24 deletion|chromosome 2q24 microdeletion syndrome|deletion 2q24 SCTID:719658006|MESH:C538316|GARD:0003746|ICD10:Q93.5|Orphanet:1617|UMLS:CN036809 owl:Class GO:0036378 biolink:NamedThing calcitriol biosynthetic process from calciol Conversion of vitamin D3 from its largely inactive form (calciol, also called cholecalciferol) into a hormonally active form (calcitriol). Conversion requires 25-hydroxylation of calciol in the liver to form calcidiol, and subsequent 1,alpha-hydroxylation of calcidiol in the kidney to form calcitriol. tmpaxzxjjyw_mondo_relaxed.owl 1alpha,25(OH)2D3 biosynthesis|1alpha,25-dihydroxyvitamin D3 biosynthesis|vitamin D3 activation|1alpha,25-dihydroxycholecalciferol biosynthesis|calcitriol biosynthesis from calciol owl:Class GO:0042368 biolink:NamedThing vitamin D biosynthetic process The chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpaxzxjjyw_mondo_relaxed.owl calciferol biosynthetic process|cholecalciferol biosynthetic process|cholecalciferol biosynthesis|vitamin D biosynthesis|vitamin D formation|vitamin D synthesis|ergocalciferol biosynthesis|calciferol biosynthesis|vitamin D anabolism|ergocalciferol biosynthetic process owl:Class MONDO:0009120 biolink:NamedThing diverticulosis of bowel, hernia, and retinal detachment A syndromic intestinal malformation characterized by the association of marfanoid habitus with visceral diverticula. It has been reported in four adults and two siblings from a consanguineous marriage in two different publications. Pediatric cases also presented with diaphragmatic hernia. Other connective tissue disorders with visceral diverticula have been reported previously, suggesting a relationship between these two conditions. tmpaxzxjjyw_mondo_relaxed.owl diverticulosis of bowel, hernia, and retinal detachment|Marphanoid syndrome type De Silva|marfanoid syndrome, De Silva type OMIM:223330|Orphanet:2464|UMLS:C1857227|GARD:0003401|MESH:C565619 The disease entity is based solely on two publications from 1962 and 1996 and it is unclear if the patients described had a Mendelian disease. owl:Class MONDO:0015212 biolink:NamedThing syndromic intestinal malformation A intestinal malformation that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with intestinal malformation|syndromic intestinal malformation Orphanet:108969|UMLS:CN226629 owl:Class HGNC:12011 biolink:NamedThing TPM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:26899 biolink:NamedThing TMTC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002615 biolink:NamedThing adipocyte of omentum tissue A fat cell that is part of omentum tissue. tmpaxzxjjyw_mondo_relaxed.owl omental adipocyte|omental fat cell tmeehan 2011-03-14T10:17:00Z cell owl:Class CL:0000136 biolink:NamedThing fat cell A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides. tmpaxzxjjyw_mondo_relaxed.owl adipocyte|adipose cell CALOHA:TS-0012|BTO:0000443|FMA:63880 CL:0000450 cell owl:Class MONDO:0043905 biolink:NamedThing pneumonitis An inflammatory process affecting the lung parenchyma. It is a milder form of lung inflammation compared to pneumonia. tmpaxzxjjyw_mondo_relaxed.owl pneumonitis|lung parenchyma inflammation|inflammation of lung parenchyma NCIT:C113159|SCTID:205237003 Pneumonitis typically refers to non-infectious inflammation, whereas pneumonia refers to infectious owl:Class MONDO:0007471 biolink:NamedThing Doyne honeycomb retinal dystrophy Doyne honeycomb retinal dystrophy (DHRD) is a condition that affects the eyes and causes vision loss. It is characterized bysmall, round, white spots known as drusen that accumulate beneath the retinal pigment epithelium(the pigmented layer of the retina). Over time, drusen may grow and come together, creating a honeycomb pattern. It usually begins in early to mid adulthood, but the age of onset varies.The degree of vision loss also varies. DHRD is usually caused by mutations in the EFEMP1 gene and is inherited in an autosomal dominant manner. tmpaxzxjjyw_mondo_relaxed.owl drusen, radial, autosomal dominant|DHD|DHRD|dominant drusen|Doyne honeycomb retinal dystrophy|familial drusen|Malattia leventinese|Doyne honeycomb degeneration of retina|dominant radial drusen UMLS:C1852020|Orphanet:75376|UMLS:CN205694|ICD10:H35.5|OMIM:126600|DOID:0060745|GARD:0001912|UMLS:C1832174|OMIM:126700|SCTID:193411004 https://rarediseases.info.nih.gov/diseases/1912/doyne-honeycomb-retinal-dystrophy owl:Class MONDO:0020245 biolink:NamedThing disease predisposing to age-related macular degeneration tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98667|UMLS:CN207066 owl:Class MONDO:0009897 biolink:NamedThing adult polyglucosan body disease Adult polyglucosan body disease (APBD) is a glycogen storage disease of adults characterized by progressive upper and lower motor neuron dysfunction, progressive neurogenic bladder and cognitive difficulties that can lead to dementia. tmpaxzxjjyw_mondo_relaxed.owl APBD|polyglucosan body neuropathy, adult form|polyglucosan body disease, adult form|APBN|polyglucosan body disease, adult GARD:0000108|Orphanet:206583|ICD10:E74.0|SCTID:721099001|OMIM:263570|MESH:C564878 https://rarediseases.info.nih.gov/diseases/108/polyglucosan-body-disease-adult owl:Class MONDO:0033544 biolink:NamedThing Tolchin-Le Caignec syndrome tmpaxzxjjyw_mondo_relaxed.owl TOLCHIN-LE CAIGNEC SYNDROME|TOLCAS|intellectual developmental disorder With behavioral abnormalities and variable bone defects OMIM:618971 owl:Class GO:0045914 biolink:NamedThing negative regulation of catecholamine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving catecholamine. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of catecholamine metabolic process|down regulation of catecholamine metabolic process|downregulation of catecholamine metabolic process|negative regulation of catecholamine metabolism|inhibition of catecholamine metabolic process owl:Class GO:0042069 biolink:NamedThing regulation of catecholamine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving catecholamines. tmpaxzxjjyw_mondo_relaxed.owl regulation of catecholamine metabolism owl:Class HGNC:2610 biolink:NamedThing CYP2A6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019606 biolink:NamedThing simple cryoglobulinemia Simple (monoclonal) cryoglobulinemia or type I cryoglobulinemia refers to the presence in the serum of one isotype or subclass of immunoglobulin (Ig) that precipitates reversibly below 37°C. tmpaxzxjjyw_mondo_relaxed.owl cryoglobulinemia type 1 ICD10:D89.1|UMLS:CN206459|UMLS:C4510006|SCTID:723674005|Orphanet:91139 owl:Class MONDO:0015923 biolink:NamedThing acquired peripheral neuropathy An instance of peripheral neuropathy that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired peripheral neuropathy Orphanet:182086 owl:Class NCBITaxon:4890 biolink:NamedThing Ascomycota tmpaxzxjjyw_mondo_relaxed.owl sac fungi|ascomycetes GC_ID:1|PMID:17572334 ncbi_taxonomy owl:Class NCBITaxon:451864 biolink:NamedThing Dikarya tmpaxzxjjyw_mondo_relaxed.owl PMID:15689432|PMID:17010206|GC_ID:1|PMID:17572334|PMID:17051209|PMID:16151185 ncbi_taxonomy owl:Class MONDO:0022786 biolink:NamedThing cleft palate colobomata radial synostosis deafness tmpaxzxjjyw_mondo_relaxed.owl GARD:0001388 https://rarediseases.info.nih.gov/diseases/1388/cleft-palate-colobomata-radial-synostosis-deafness owl:Class UBERON:0004734 biolink:NamedThing gastrula tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000922 biolink:NamedThing embryo tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:740972 biolink:NamedThing Tritrichomonadida tmpaxzxjjyw_mondo_relaxed.owl Trichomonadida Kirby, 1947, emend. Brugerolle and Patterson, 2001 GC_ID:1|PMID:20093080 ncbi_taxonomy owl:Class NCBITaxon:5719 biolink:NamedThing Parabasalia tmpaxzxjjyw_mondo_relaxed.owl parabasalians|parabasalids|Parabasalidea GC_ID:1|PMID:20093080 ncbi_taxonomy owl:Class GO:0045701 biolink:NamedThing negative regulation of spermatid nuclear differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of spermatid nuclear differentiation. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of spermatid nuclear differentiation|down regulation of spermatid nuclear differentiation|inhibition of spermatid nuclear differentiation|downregulation of spermatid nuclear differentiation owl:Class ECTO:0000590 biolink:NamedThing exposure to vasodilator agent An exposure to vasodilator agent. tmpaxzxjjyw_mondo_relaxed.owl exposure to vasodilator agent owl:Class MONDO:0001091 biolink:NamedThing lipoma of colon A benign adipose tissue neoplasm originating in the colon. It is the second most common benign lesion of the colon after benign adenomatous polyps. Older patients are more likely to be affected, and most lesions are located at the right side of large bowel. Colon lipomas may lead to intestinal obstruction. tmpaxzxjjyw_mondo_relaxed.owl colon lipoma|lipoma of the colon|colonic lipoma|lipoma of colon UMLS:C0940607|NCIT:C5493|DOID:10655 owl:Class MONDO:0003885 biolink:NamedThing colorectal lipoma A rare benign adipose tissue neoplasm arising from the wall of the colon and rectum. tmpaxzxjjyw_mondo_relaxed.owl colorectal lipoma|lipoma of large bowel|large bowel lipoma|lipoma of the large bowel|lipoma of the large intestine|lipoma of large intestine|large intestine lipoma DOID:6460|NCIT:C5678|UMLS:C1333114 owl:Class UBERON:0011198 biolink:NamedThing muscle layer of large intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012367 biolink:NamedThing muscle layer of intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:29412 biolink:NamedThing oxonium tmpaxzxjjyw_mondo_relaxed.owl oxidanium|oxonium|[OH3](+)|trihydridooxygen(1+)|H3O(+)|aquahydrogen(1+)|Hydronium ion|Hydronium cation owl:Class MONDO:0006833 biolink:NamedThing lingual goiter Pathological enlargement of the lingual thyroid, ectopic thyroid tissue at the base of the tongue. It may cause upper airway obstruction; dysphagia; or hypothyroidism symptoms. tmpaxzxjjyw_mondo_relaxed.owl SCTID:75667007|EFO:1001018|DOID:13196|ICD9:759.2|MESH:D047268|UMLS:C0271760 owl:Class MONDO:0005397 biolink:NamedThing goiter Enlargement of the thyroid gland usually caused by lack of iodine in the diet, hyperthyroidism, or thyroid nodules. Symptoms include difficulty in breathing and swallowing. tmpaxzxjjyw_mondo_relaxed.owl goiter (disease)|Thyromegaly|goiter|goitre goiter (disease) NCIT:C26785|EFO:0004283|HP:0000853|SCTID:3716002|MESH:D006042|ICD10:E04.9|ICD9:240.9|DOID:12176 owl:Class UBERON:0006657 biolink:NamedThing glenoid fossa tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004704 biolink:NamedThing bone fossa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018320 biolink:NamedThing primary microcephaly-mild intellectual disability-young-onset diabetes syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIM:616817|OMIM:616033|Orphanet:391408|UMLS:CN204971|ICD10:Q87.8 owl:Class MONDO:0006451 biolink:NamedThing thymic carcinoma Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential. tmpaxzxjjyw_mondo_relaxed.owl thymus carcinoma|thymoma type C|thymoma, type C (morphologic abnormality)|THYC|thymoma, malignant|thymic carcinoma|malignant thymoma|thymic carcinoma (excluding well differentiated thymic carcinoma)|type C thymoma|carcinoma of thymus|thymoma, type C|thymic carcinoma excluding well differentiated thymic carcinoma|thymoma, malignant (morphologic abnormality) NCIT:C7569|DOID:4554|DOID:3284|MedDRA:10061031|UMLS:CN207411|ICD10:C37|UMLS:C0205969|UMLS:C1322286|ONCOTREE:THYC|SCTID:444374006|EFO:1000576|Orphanet:99868|GARD:0011952|ICDO:8586/3 owl:Class MONDO:0002586 biolink:NamedThing thymus cancer A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of thymus|malignant thymus neoplasm|thymic neoplasm|malignant neoplasm of Thymus|malignant neoplasm of the Thymus|thymic tumor|malignant Thymus tumor|malignant Thymus neoplasm|cancer of thymus|cancer of Thymus|malignant tumor of the Thymus|malignant tumor of Thymus|Thymus cancer|thymus cancer|cancer of the Thymus ICD10:C37|NCIT:C4962|UMLS:C0751552|SCTID:363434003|DOID:3277|ICD9:164.0 owl:Class GO:0046322 biolink:NamedThing negative regulation of fatty acid oxidation Any process that stops, prevents, or reduces the frequency, rate or extent of fatty acid oxidation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of fatty acid oxidation|inhibition of fatty acid oxidation|down regulation of fatty acid oxidation|down-regulation of fatty acid oxidation owl:Class MONDO:0004380 biolink:NamedThing dendritic cell sarcoma A sarcoma that involves the dendritic cell. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of dendritic cell|Dendritic cell sarcoma, not otherwise specified (morphologic abnormality)|Dendritic cell sarcoma|dendritic cell sarcoma|follicular dendritic cell sarcoma ONCOTREE:DCS|DOID:7849|NCIT:C27260|SCTID:446643000 Editor note: we place the NCIT class here even though it is NOS owl:Class UBERON:0006518 biolink:NamedThing right lung lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000101 biolink:NamedThing lobe of lung tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033640 biolink:NamedThing vitamin D-dependent rickets, type 3 tmpaxzxjjyw_mondo_relaxed.owl VDDR3 OMIM:619073 owl:Class MONDO:0024299 biolink:NamedThing vitamin D-dependent rickets tmpaxzxjjyw_mondo_relaxed.owl VDDR SCTID:68295002|UMLS:C0221468 owl:Class MONDO:0005829 biolink:NamedThing louping ill An acute tick-borne arbovirus infection causing meningoencephalomyelitis of sheep. tmpaxzxjjyw_mondo_relaxed.owl Louping ill ICD9:063.1|DOID:10250|ICD10:A84.8|UMLS:C0024025|EFO:0007348|MESH:D008146 owl:Class CL:0000059 biolink:NamedThing ameloblast Skeletogenic cell that produces enamel, overlies the odontogenic papilla, and arises from the differentiation of a preameloblast cell. tmpaxzxjjyw_mondo_relaxed.owl amelocyte|enamel secreting cell BTO:0001663|FMA:70576 non-encoded relationship from VSAO produces VSAO:0000066 CL:0000139|CL:0000053 cell owl:Class CL:0000146 biolink:NamedThing simple columnar epithelial cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0008386 biolink:NamedThing Axenfeld-Rieger syndrome type 1 A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth. tmpaxzxjjyw_mondo_relaxed.owl Rieger syndrome, type 1|Axenfeld-Rieger syndrome type 1|Rieg|RIEG1|Axenfeld-Rieger syndrome, type 1|Rieger syndrome type 1|Rgs|PITX2 Axenfeld-Rieger syndrome|Axenfeld-Rieger syndrome caused by mutation in PITX2 Orphanet:782|DOID:0110120|UMLS:C3714873|NCIT:C75015|ICD10:Q13.8|OMIM:180500 owl:Class MONDO:0007662 biolink:NamedThing anterior segment dysgenesis 4 Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene. tmpaxzxjjyw_mondo_relaxed.owl iridogoniodysgenesis syndrome|IRID2|iris hypoplasia with early-onset glaucoma, autosomal dominant|anterior segment dysgenesis 4|iridogoniodysgenesis, type 2|iridogoniodysgenesis caused by mutation in PITX2|ASGD4|iridogoniodysgenesis type 2|PITX2 iridogoniodysgenesis DOID:0080609|OMIM:137600|UMLS:C1842031|GARD:0003026|Orphanet:91483 owl:Class HGNC:20311 biolink:NamedThing CHAMP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014037 biolink:NamedThing spermatogenic failure 11 Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene. tmpaxzxjjyw_mondo_relaxed.owl SPGF11|KLHL10 azoospermia|azoospermia caused by mutation in KLHL10|spermatogenic failure 11|spermatogenic failure type 11 OMIM:615081|DOID:0070180|UMLS:C3554453 owl:Class MONDO:0018393 biolink:NamedThing male infertility with azoospermia or oligozoospermia due to single gene mutation Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN225947|OMIM:108420|OMIM:613957|OMIM:258150|OMIM:270960|OMIM:615081|OMIM:615842|OMIM:305700|ICD10:N46|OMIM:615413|OMIM:615841|OMIM:616950|Orphanet:399805|OMIM:309120 owl:Class MONDO:0008547 biolink:NamedThing thanatophoric dysplasia type 2 Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs. tmpaxzxjjyw_mondo_relaxed.owl thanatophoric dysplasia, type 2|thanatophoric dysplasia type II|thanatophoric dwarfism type 2|cloverleaf skull with thanatophoric dwarfism|type 2 thanatophoric dysplasia|thanatophoric dwarfism-cloverleaf skull syndrome|TD2|thanatophoric dysplasia with Kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dwarfism - cloverleaf skull|thanatophoric dysplasia, type II GARD:0001402|UMLS:C1300257|NCIT:C98584|SCTID:389158007|ICD10:Q77.1|MESH:C536508|OMIM:187601|ICD9:742.59|UMLS:CN206542|Orphanet:93274|Orphanet:2655|OMIM:156830 https://rarediseases.info.nih.gov/diseases/1402/thanatophoric-dysplasia-type-2 owl:Class CL:0000060 biolink:NamedThing odontoblast Skeletogenic cell that secretes dentine matrix, is derived from the odontogenic papilla, and develops from a preodontoblast cell. tmpaxzxjjyw_mondo_relaxed.owl BTO:0001769|FMA:62999|CALOHA:TS-0696 legacy def: One of the cells forming the outer surface of dental pulp that produces tooth dentin. cell owl:Class UBERON:8410008 biolink:NamedThing venule of anorectum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022413 biolink:NamedThing Albright-like syndrome tmpaxzxjjyw_mondo_relaxed.owl Albright like syndrome GARD:0000596 https://rarediseases.info.nih.gov/diseases/596/albright-like-syndrome owl:Class UBERON:0004895 biolink:NamedThing alveolar smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002621 biolink:NamedThing extraosseous osteosarcoma An osteosarcoma arising from the soft tissue. tmpaxzxjjyw_mondo_relaxed.owl extraskeletal osteosarcoma|extraskeletal osteogenic sarcoma|soft tissue osteosarcoma|extraosseous osteosarcoma|osteosarcoma, extraskeletal, malignant UMLS:C0855052|ICD9:170.9|DOID:3357|SCTID:404077005|NCIT:C8810 owl:Class MONDO:0001928 biolink:NamedThing suppurative cholangitis Cholangitis that is characterized by pyogenic organisms. tmpaxzxjjyw_mondo_relaxed.owl suppurative cholangitis UMLS:C0267924|SCTID:69850007|DOID:14269|ICD10:K83.0|NCIT:C35336 owl:Class MONDO:0013482 biolink:NamedThing Meckel syndrome, type 8 Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene. tmpaxzxjjyw_mondo_relaxed.owl TCTN2 Meckel syndrome|Meckel-Gruber syndrome, type 8|MKS8|Meckel syndrome caused by mutation in TCTN2|Meckel syndrome 8|Meckel syndrome, type 8 OMIM:613885|ICD10:Q61.9|DOID:0070122|UMLS:C3836857|Orphanet:564 owl:Class CHEBI:48376 biolink:NamedThing carbamimidic acid tmpaxzxjjyw_mondo_relaxed.owl HO-C(=NH)-NH2|H2N-C(=NH)-OH|pseudourea|Isoharnstoff|isourea|H2N-C(OH)=NH|carbamimidic acid|carbamimic acid|carbonamidimidic acid owl:Class CHEBI:48379 biolink:NamedThing isourea A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives. tmpaxzxjjyw_mondo_relaxed.owl isoureas owl:Class MONDO:0021249 biolink:NamedThing lip neoplasm A neoplasm (disease) that involves the lip. tmpaxzxjjyw_mondo_relaxed.owl lip neoplasms|neoplasm of Lip|lip neoplasm (disease)|tumor of the Lip|tumor of Lip|neoplasm of lip|neoplasm of the Lip|lip tumor|tumor of lip NCIT:C3191|SCTID:126770008 owl:Class MONDO:0021532 biolink:NamedThing fibroma of prostate A fibroma that involves the prostate gland. tmpaxzxjjyw_mondo_relaxed.owl prostate fibroma|fibroma of the prostate|prostate gland fibroma ICD9:600.20|UMLS:C0268885|SCTID:47014000|NCIT:C3972 owl:Class CL:0000817 biolink:NamedThing precursor B cell A precursor B cell is a B cell with the phenotype CD10-positive. tmpaxzxjjyw_mondo_relaxed.owl pre-B cell BTO:0001133|CALOHA:TS-0819 cell owl:Class CL:1000892 biolink:NamedThing kidney capillary endothelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001030 cell owl:Class CL:1000854 biolink:NamedThing kidney blood vessel cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001014 cell owl:Class GO:0071702 biolink:NamedThing organic substance transport The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015811 biolink:NamedThing primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare form of primary cutaneous T-cell lymphoma characterized by rapidly progressing, localized or disseminated nodules, tumors or eczematous skin lesions. It has a particularly aggressive clinical course with a high tendency to spread, in advanced stages, to extracutaneous locations (the central nervous system, lung, testes). Lymph nodes are often spared. tmpaxzxjjyw_mondo_relaxed.owl Berti lymphoma|primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma SCTID:765136002|ICD10:C84.4|Orphanet:178528 owl:Class MONDO:0015817 biolink:NamedThing aggressive primary cutaneous T-cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:178551 owl:Class MONDO:0017213 biolink:NamedThing postorgasmic illness syndrome A rare condition in which a man develops flu-like symptoms after ejaculation (when semen is released from the penis). Specific symptoms can include extreme fatigue, weakness, feverishness or sweating, mood changes or irritability, memory or concentration problems, and/or a stuffy nose or itching eyes. Symptoms may occur within seconds, minutes, or a few hours after ejaculation. Most symptoms last for 2 to 7 days and go away on their own. The underlying cause of POIS is poorly understood. Some scientists believe it may be due to a semen allergy that causes an immediate hypersensitivity reaction. There is no standard treatment for POIS, but some men have been treated with SSRIs, antihistamines, and/or benzodiazepines. Hyposensitization therapy (decreasing the immune response by exposure to semen) reportedly improved symptoms in two men with POIS. tmpaxzxjjyw_mondo_relaxed.owl post orgasmic sick syndrome|POIS Orphanet:279947|UMLS:CN202682|GARD:0010809 https://github.com/monarch-initiative/mondo/issues/3570|https://rarediseases.info.nih.gov/diseases/10809/postorgasmic-illness-syndrome owl:Class MONDO:0014380 biolink:NamedThing colobomatous microphthalmia-rhizomelic dysplasia syndrome Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia|microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|MCOPS14|microphthalmia, syndromic type 14|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|MCSKS|microphthalmia/coloboma and skeletal dysplasia syndrome OMIM:615877|UMLS:C4014540|ICD10:Q87.5|Orphanet:424099 owl:Class MONDO:0009395 biolink:NamedThing hyperostosis corticalis generalisata Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies. tmpaxzxjjyw_mondo_relaxed.owl VAN Buchem disease|endosteal hyperostosis autosomal recessive|endosteal hyperostosis|Van Buchem disease|van Buchem disease type 1|endosteal hyperostosis, autosomal recessive|SOST-related sclerosing bone dysplasia|VBCH|hyperphosphatasemia tarda|hyperostosis corticalis generalisata|van Buchem disease GARD:0002833|NCIT:C131812|DOID:0080036|OMIM:239100|ICD10:M85.2|OMIM:607636|Orphanet:3416|SCTID:59763006 owl:Class MONDO:0008119 biolink:NamedThing spinocerebellar ataxia type 1 Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities. tmpaxzxjjyw_mondo_relaxed.owl ATXN1 autosomal dominant cerebellar ataxia type I|Schut-haymaker type OPCA|OPCA1|olivopontocerebellar atrophy 4|OPCA4|spinocerebellar ataxia 1|olivopontocerebellar atrophy 1|Menzel type OPCA|OPCA 1|spinocerebellar ataxia type 1|Sca1|OPCA 4|spinocerebellar atrophy 1|autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1|cerebelloparenchymal disorder 1 ICD10:G11.8|GARD:0004071|Orphanet:98755|DOID:0050954|SCTID:715748006|UMLS:C0752120|OMIM:164400|NCIT:C129982 owl:Class MONDO:0015548 biolink:NamedThing Huntington disease-like syndrome tmpaxzxjjyw_mondo_relaxed.owl Huntington disease phenocopy syndrome SCTID:702376003|MESH:C580174|UMLS:C3711380|ICD9:333.99|Orphanet:158266 owl:Class GO:0055117 biolink:NamedThing regulation of cardiac muscle contraction Any process that modulates the frequency, rate or extent of cardiac muscle contraction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:33862 biolink:NamedThing GRXCR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:20342 biolink:NamedThing ZDHHC15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009352 biolink:NamedThing classic homocystinuria Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system. tmpaxzxjjyw_mondo_relaxed.owl hyperhomocysteinemia, thrombotic, CBS-related|homocystinuria due to cystathionine beta-synthase deficiency|cystathionine beta-synthase deficiency|homocystinuria due to CBS deficiency|classic homocystinuria|CBS deficiency|homocystinuria with or without response to pyridoxine Orphanet:394|OMIM:236200|UMLS:C0751202|ICD10:E72.1|MedDRA:10071093|SCTID:24308003|GARD:0006667 https://rarediseases.info.nih.gov/diseases/6667/homocystinuria-due-to-cbs-deficiency owl:Class MONDO:0014607 biolink:NamedThing developmental and epileptic encephalopathy, 32 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene. tmpaxzxjjyw_mondo_relaxed.owl KCNA2 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 32|epileptic encephalopathy, early infantile, 32|EIEE32|early infantile epileptic encephalopathy caused by mutation in KCNA2|DEE32 DOID:0080416|OMIM:616366|UMLS:C4225350 owl:Class MONDO:0019635 biolink:NamedThing idiopathic achalasia A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition. tmpaxzxjjyw_mondo_relaxed.owl achalasia cardia|idiopathic achalasia of esophagus|primary achalasia OMIM:200400|UMLS:C0014848|UMLS:C1860213|MedDRA:10036669|UMLS:C0859976|Orphanet:930|ICD10:K22.0|SCTID:715192004|GARD:0005708 https://github.com/monarch-initiative/mondo/issues/4055 owl:Class MONDO:0015111 biolink:NamedThing gastroesophageal disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197468|Orphanet:101936 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0010199 biolink:NamedThing white forelock with malformations White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980. tmpaxzxjjyw_mondo_relaxed.owl white forelock with malformations OMIM:277740|MESH:C536700|UMLS:C1848463|ICD10:Q87.8|Orphanet:2475|SCTID:763619009|GARD:0010081 https://rarediseases.info.nih.gov/diseases/10081/white-forelock-with-malformations owl:Class MONDO:0004609 biolink:NamedThing herpes simplex infectious disease A group of acute infections caused by herpes simplex virus type 1 or type 2 that is characterized by the development of one or more small fluid-filled vesicles with a raised erythematous base on the skin or mucous membrane. It occurs as a primary infection or recurs due to a reactivation of a latent infection. (Dorland, 27th ed.) tmpaxzxjjyw_mondo_relaxed.owl Simplexvirus disease or disorder|Simplexvirus infectious disease|herpes simplex complex|Simplexvirus caused disease or disorder|herpes simplex|herpes simplex infection|Herpesvirus hominis disease|herpes simplex viral infection MESH:D006561|EFO:1002022|DOID:8566|ICD9:054|ICD9:058.89|ICD10:B00.9|SCTID:88594005|UMLS:C0019348|ICD10:B00 owl:Class MONDO:0002270 biolink:NamedThing viral gastritis Inflammation of the stomach resulting from viral infection. tmpaxzxjjyw_mondo_relaxed.owl Viruses gastritis (disease)|viral gastritis|Viruses caused gastritis (disease) SCTID:285344007|NCIT:C27184|DOID:2327|ICD9:008.8|UMLS:C0563238 owl:Class MONDO:0003046 biolink:NamedThing anus neoplasm A benign or malignant neoplasm that affects the anal canal or anal margin. Representative examples of benign neoplasms include squamous papilloma and papillary hidradenoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and melanoma. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the anus|anal neoplasms, benign and malignant|neoplasm of anus|anal neoplasm|anal tumors|anus tumor|tumor of the anus|anus neoplasm (disease)|anal tumor|anus neoplasm|tumor of anus UMLS:C0003463|DOID:4551|MESH:D001005|NCIT:C2877|EFO:0003835|SCTID:126849006 owl:Class MONDO:0034021 biolink:NamedThing spondylodysplastic Ehlers-Danlos syndrome tmpaxzxjjyw_mondo_relaxed.owl spondylodysplastic EDS Orphanet:536471 owl:Class MONDO:0004642 biolink:NamedThing tonsillar pillar cancer A cancer that involves the tonsillar pillar. tmpaxzxjjyw_mondo_relaxed.owl malignant tumour of tonsillar pillar|malignant neoplasm of tonsillar pillars, posterior|malignant tumor of tonsillar pillar|malignant neoplasm of tonsillar pillar UMLS:C0153385|SCTID:187675005|DOID:8688|ICD9:146.2|ICD10:C09.1 owl:Class MONDO:0005864 biolink:NamedThing muscle cancer A malignant neoplasm affecting the skeletal or smooth muscles. Malignant neoplasms arising from the skeletal muscles are called rhabdomyosarcomas. Malignant neoplasms arising from the smooth muscles are called leiomyosarcomas. tmpaxzxjjyw_mondo_relaxed.owl malignant muscle tumor|malignant neoplasm of the muscle|muscle structure cancer|malignant muscle structure neoplasm|malignant neoplasm of muscle|malignant muscle neoplasm|malignant neoplasm of muscle structure|malignant tumor of the muscle|myosarcoma|malignant tumor of muscle|cancer of muscle structure DOID:4045|UMLS:C0684743|UMLS:C0027095|ICD9:171.9|ICD10:C49|ICDO:8895/3|NCIT:C4883|EFO:0007384|SCTID:363495004 owl:Class ENVO:01000739 biolink:NamedThing habitat An environmental system which can sustain and allow the growth of an ecological population. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001110 biolink:NamedThing ecosystem An environmental system which includes both living and non-living components. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042320 biolink:NamedThing regulation of circadian sleep/wake cycle, REM sleep Any process that modulates the frequency, rate or extent of rapid eye movement (REM) sleep. tmpaxzxjjyw_mondo_relaxed.owl regulation of REM sleep owl:Class HGNC:4138 biolink:NamedThing GANAB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017989 biolink:NamedThing His bundle tachycardia His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality. tmpaxzxjjyw_mondo_relaxed.owl JET|junctional ectopic tachycardia GARD:0002706|ICD9:427.89|UMLS:C0039235|NCIT:C111646|Orphanet:3283|SCTID:233901002|ICD10:I47.1|MESH:D013613 https://rarediseases.info.nih.gov/diseases/2706/his-bundle-tachycardia owl:Class UBERON:0005856 biolink:NamedThing developing mesenchymal condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045980 biolink:NamedThing negative regulation of nucleotide metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of nucleotide metabolism|down-regulation of nucleotide metabolic process|inhibition of nucleotide metabolic process|down regulation of nucleotide metabolic process|downregulation of nucleotide metabolic process owl:Class MONDO:0004443 biolink:NamedThing chest wall parachordoma A parachordoma arising from the chest wall. tmpaxzxjjyw_mondo_relaxed.owl chest wall parachordoma|parachordoma of the chest wall|parachordoma of chest wall NCIT:C6720|DOID:8043|UMLS:C1332934 owl:Class MONDO:0006351 biolink:NamedThing parachordoma A rare, usually benign myoepithelial tumor characterized by the presence of epithelioid, often vacuolated neoplastic cells. Most patients present with painless swelling in the subcutaneous or subfascial soft tissues of the extremities. tmpaxzxjjyw_mondo_relaxed.owl parachordoma NCIT:C6581|DOID:2647|ICDO:9373/0|EFO:1000452|UMLS:C1266175|SCTID:404086000|ICDO:9373/1 owl:Class GO:0005902 biolink:NamedThing microvillus Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. tmpaxzxjjyw_mondo_relaxed.owl microvilli owl:Class GO:0098858 biolink:NamedThing actin-based cell projection A cell projection supported by an assembly of actin filaments, and which lacks microtubules. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009507 biolink:NamedThing Lambert syndrome Lambert syndrome is a very rare syndrome described in four sibs of one French family and characterized by branchial dysplasia (malar hypoplasia, macrostomia, preauricular tags and meatal atresia), club feet, inguinal herniae and cholestasis due to paucity of interlobular bile ducts and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia|branchial dysplasia-intellectual disability-inguinal hernia syndrome|branchial dysplasia clubfoot inguinal hernia and biliary atresia|Lambert syndrome Orphanet:1296|ICD10:Q87.8|MESH:C538396|SCTID:732961003|UMLS:C1855551|GARD:0003169|OMIM:245550 https://rarediseases.info.nih.gov/diseases/3169/lambert-syndrome owl:Class MONDO:0017924 biolink:NamedThing central nervous system calcification-deafness-tubular acidosis-anemia syndrome This syndrome is characterised by progressive calcification of the brain and spinal cord, growth retardation, psychomotor anomalies, deafness and anaemia. Renal tubular acidosis was found in one patient. To date, this syndrome has been described in only two patients from one family. tmpaxzxjjyw_mondo_relaxed.owl Yoshimura-Takeshita syndrome Orphanet:3240|UMLS:CN204056 owl:Class MONDO:0017828 biolink:NamedThing primary renal tubular acidosis tmpaxzxjjyw_mondo_relaxed.owl ICD10:N25.8|Orphanet:314822 owl:Class MONDO:0024618 biolink:NamedThing poliovirus infection An disease or disorder caused by infection with Enterovirus C. tmpaxzxjjyw_mondo_relaxed.owl infection caused by human poliovirus|Enterovirus C caused disease or disorder|human poliovirus infection|Enterovirus C infectious disease|Enterovirus C disease or disorder SCTID:721764008|UMLS:C4303135 Editor note: TODO placeholder class for poliovirus in NCIT owl:Class NCBITaxon:32561 biolink:NamedThing Sauria tmpaxzxjjyw_mondo_relaxed.owl diapsids|Diapsida GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005992 biolink:NamedThing pulmonary valve cusp tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006009 biolink:NamedThing cusp of cardiac valve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009058 biolink:NamedThing cystathioninuria Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. tmpaxzxjjyw_mondo_relaxed.owl gamma-cystathionase deficiency|Cystathione gamma-lyase deficiency syndrome|cystathione gamma-lyase deficiency syndrome|cystathionase deficiency|cystathioninuria|cystathioninuria (disease) cystathioninuria (disease) GARD:0002428|ICD10:E72.1|UMLS:C3495552|UMLS:C0268616|UMLS:C0220993|SCTID:13003007|HP:0003153|Orphanet:212|GARD:2428|DOID:0090142|NCIT:C129070|OMIM:219500 owl:Class GO:0016331 biolink:NamedThing morphogenesis of embryonic epithelium The process in which the anatomical structures of embryonic epithelia are generated and organized. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002009 biolink:NamedThing morphogenesis of an epithelium The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. tmpaxzxjjyw_mondo_relaxed.owl epithelium morphogenesis owl:Class GO:0060083 biolink:NamedThing smooth muscle contraction involved in micturition The process leading to shortening and/or development of tension in the urinary bladder smooth muscle tissue involved in the expulsion urine from the body. tmpaxzxjjyw_mondo_relaxed.owl urinary bladder smooth muscle contraction involved in micturition|smooth muscle contraction involved in urination owl:Class GO:0014832 biolink:NamedThing urinary bladder smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary bladder. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary bladder is a musculomembranous sac along the urinary tract. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024520 biolink:NamedThing renal hypodysplasia/aplasia 3 tmpaxzxjjyw_mondo_relaxed.owl renal hypodysplasia/aplasia 3|RHDA3 OMIM:617805|EFO:0009137|UMLS:CN703737 owl:Class MONDO:0014726 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2X Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the SPG11 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive Charcot-Marie-Tooth disease type 2X|autosomal recessive Charcot Marie Tooth disease type 2X|Charcot-Marie-Tooth neuropathy, type 2X|autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation|Charcot-Marie-Tooth neuropathy type 2X|SPG11 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, type 2x|CMT2X|Charcot-Marie-Tooth disease caused by mutation in SPG11|autosomal recessive axonal Charcot-Marie-Tooth disease type 2X|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X|Charcot-Marie-Tooth disease, axonal, type 2X|ARCMT2X DOID:0110176|EFO:1001983|UMLS:C4225253|OMIM:616668|Orphanet:466775 owl:Class MONDO:0015626 biolink:NamedThing Charcot-Marie-Tooth disease An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease/hereditary motor and sensory neuropathy|peroneal muscular atrophy|CMT|Charcot Marie Tooth disease|hereditary motor and sensory neuropathy|Charcot Marie Tooth muscular atrophy|Charcot-Marie-Tooth hereditary neuropathy|CMT/HMSN|CMT - Charcot-Marie-Tooth disease|hereditary sensorimotor neuropathy|Charcot-Marie-Tooth disease DOID:10595|MedDRA:10034699|OMIMPS:118220|NCIT:C75467|MESH:D002607|ICD9:356.1|Orphanet:166|ICD10:G60.0|UMLS:C0007959|GARD:0006034 owl:Class MONDO:0003873 biolink:NamedThing ovarian surface papilloma A benign serous neoplasm characterized by the presence of papillary proliferations on the surface of the ovary. tmpaxzxjjyw_mondo_relaxed.owl ovarian surface papilloma DOID:6407|UMLS:C1335183|NCIT:C7279 owl:Class MONDO:0002362 biolink:NamedThing serous surface papilloma A non-invasive papillary serous epithelial neoplasm usually arising from the ovary. tmpaxzxjjyw_mondo_relaxed.owl serous surface papilloma (morphologic abnormality)|serous surface papilloma NOS (morphologic abnormality)|serous surface papilloma UMLS:C0334360|NCIT:C4181|DOID:2614|ICDO:8461/0 owl:Class MONDO:0007598 biolink:NamedThing factors VIII, IX and XI, combined deficiency of tmpaxzxjjyw_mondo_relaxed.owl factors VIII, 9 and Xi, combined deficiency of|factors VIII, IX and XI, combined deficiency of|multiple coagulation Factor deficiency 5|familial multiple coagulation Factor deficiency 5 UMLS:C1851375|OMIM:134520|MESH:C565023 owl:Class MONDO:0001757 biolink:NamedThing frontal sinus neoplasm A benign or malignant neoplasm that affects the frontal sinus. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of frontal sinus|frontal sinus tumor|frontal sinus neoplasm (disease)|tumor of the frontal sinus|tumor of frontal sinus|neoplasm of the frontal sinus NCIT:C4419|SCTID:126678005|DOID:1361|UMLS:C0345672 MONDO:0021214 owl:Class MONDO:0012184 biolink:NamedThing Pierson syndrome Pierson syndrome is characterised by the association of congenital nephrotic syndrome and ocular anomalies with microcoria. tmpaxzxjjyw_mondo_relaxed.owl microcoria-congenital nephrosis syndrome|microcoria - congenital nephrosis|Pierson syndrome|microcoria-congenital nephrotic syndrome|microcoria - congenital nephrotic syndrome DOID:0060852|Orphanet:2670|SCTID:723449004|UMLS:C1836876|GARD:0003945|ICD10:N04.8|GARD:0009420|NCIT:C128145|MESH:C537185|OMIM:609049 https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome owl:Class MONDO:0012191 biolink:NamedThing hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement. tmpaxzxjjyw_mondo_relaxed.owl Hepatoencephalopathy, early fatal progressive|hepatoencephalopathy due to combined oxidative phosphorylation defect type 1|combined oxidative phosphorylation deficiency caused by mutation in GFM1|combined oxidative phosphorylation deficiency 1|GFM1 combined oxidative phosphorylation deficiency|COXPD1|combined oxidative phosphorylation deficiency type 1|Hepatoencephalopathy due to COXPD1 NCIT:C125663|DOID:0111474|MESH:C563797|ICD10:E88.8|UMLS:C1836797|SCTID:764962002|OMIM:609060|Orphanet:137681 owl:Class MONDO:0013169 biolink:NamedThing chromosome 5p13 duplication syndrome 5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). tmpaxzxjjyw_mondo_relaxed.owl dup(5)(p13)|chromosome 5p13 duplication syndrome|trisomy 5p13|5p13 microduplication syndrome MESH:C567717|UMLS:C2750805|OMIM:613174|DOID:0060460|ICD10:Q92.3|Orphanet:329802 owl:Class MONDO:0011227 biolink:NamedThing short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities|SAMS|SAMS syndrome SCTID:417081007|MESH:C566544|OMIM:602471|UMLS:C1865361|Orphanet:397623|ICD10:Q87.1 owl:Class MONDO:0018562 biolink:NamedThing genetic otorhinolaryngological malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:435603 owl:Class MONDO:0002070 biolink:NamedThing ventricular septal defect The presence of a defect (opening) in the septum that separates the two ventricles of the heart. It can be congenital or acquired. tmpaxzxjjyw_mondo_relaxed.owl ventricular septal defects|interventricular septal defect|heart septal defects, ventricular|ventricular septal defect|VSD|ventricular septal abnormality|interventricular communication|ventricular septal defect (disease) ventricular septal defect (disease) GARD:0007853|OMIMPS:614429|SCTID:30288003|OMIM:614429|ICD9:745.4|OMIM:614431|MESH:D006345|DOID:1657|Orphanet:1480|HP:0001629|OMIM:614432|NCIT:C84506|ICD10:Q21.0 owl:Class UBERON:0006077 biolink:NamedThing subdivision of vertebral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000075 biolink:NamedThing subdivision of skeletal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:17602 biolink:NamedThing 4-aminophenol An amino phenol (one of the three possible isomers) which has the single amino substituent located para to the phenolic -OH group. tmpaxzxjjyw_mondo_relaxed.owl 4-Aminobenzenol|p-Aminophenol|4-Hydroxyaniline|4-Aminophenol|4-AMINOPHENOL|4-aminophenol|p-hydroxyaniline owl:Class CHEBI:28829 biolink:NamedThing aminophenol A substituted aniline carrying a hydroxy substituent. tmpaxzxjjyw_mondo_relaxed.owl aminophenol|aminobenzenol|hydroxyaniline owl:Class MONDO:0024636 biolink:NamedThing inflammation of heart layer An inflammatory disease involving a pathogenic inflammatory response in the heart layer. tmpaxzxjjyw_mondo_relaxed.owl heart layer inflammation|carditis ICD9:429.89|SCTID:399617002 owl:Class NCBITaxon:1313 biolink:NamedThing Streptococcus pneumoniae tmpaxzxjjyw_mondo_relaxed.owl Micrococcus pneumoniae|Diplococcus pneumoniae GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1301 biolink:NamedThing Streptococcus tmpaxzxjjyw_mondo_relaxed.owl PMID:7537076|PMID:10555340|GC_ID:11|PMID:19620365|PMID:14657115|PMID:8995803|PMID:1720654|PMID:19880633 ncbi_taxonomy owl:Class HGNC:3603 biolink:NamedThing FBN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:30768 biolink:NamedThing propionic acid A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group. tmpaxzxjjyw_mondo_relaxed.owl Propionic acid|carboxyethane|propioic acid|acide propanoique|metacetonic acid|propionic acid|CH3-CH2-COOH|PROPANOIC ACID|propoic acid|propanoic acid|Propanoic acid|acide propionique|pseudoacetic acid|PA|ethanecarboxylic acid|methylacetic acid|Propionsaeure|ethylformic acid owl:Class CHEBI:26607 biolink:NamedThing saturated fatty acid Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess. tmpaxzxjjyw_mondo_relaxed.owl SFA|saturated fatty acid|SFAs|saturated fatty acids owl:Class MONDO:0004684 biolink:NamedThing plantar fibromatosis A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. tmpaxzxjjyw_mondo_relaxed.owl superficial fibromatosis of plantar part of pes|superficial Fibromatosis of plantar part of pes|plantar part of pes superficial Fibromatosis|plantar fascial fibromatosis|Ledderhose's disease|Dupuytren's contracture of foot|plantar fibromatosis|plantar part of pes superficial fibromatosis EFO:1000481|MESH:C537000|DOID:8936|NCIT:C4680|SCTID:13370002|ICD9:728.71|ICD10:M72.2 owl:Class MONDO:0008385 biolink:NamedThing rhiny tmpaxzxjjyw_mondo_relaxed.owl craniorhiny|rhiny MESH:C566708|OMIM:180360 owl:Class HGNC:19714 biolink:NamedThing DDHD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016806 biolink:NamedThing maternally-inherited mitochondrial dystonia Maternally-inherited mitochondrial dystonia is a rare neurological mitochondrial DNA-related disorder characterized clinically by progressive pediatric-onset dystonia with variable degrees of severity. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274074|ICD10:G24.8|Orphanet:254851|SCTID:717054001 owl:Class MONDO:0010725 biolink:NamedThing X-linked retinoschisis A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration. tmpaxzxjjyw_mondo_relaxed.owl juvenile X-linked retinoschisis|retinoschisis, X-linked|X-linked juvenile retinoschisis|retinoschisis 1, X-linked, juvenile|RS|X-linked retinoschisis|X-linked juvenile retinoschisis type 1|juvenile retinoschisis|XJR|retinoschisis juvenile X chromosome-linked|XLRS|XLRS1|X-linked juvenile retinoschisis 1|RS1|retinoschisis X-linked GARD:0004690|SCTID:86923008|OMIM:312700|ICD10:Q14.1|NCIT:C75483|DOID:0060763|Orphanet:792 owl:Class MONDO:0100093 biolink:NamedThing myoclonus, familial, 1 Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22. tmpaxzxjjyw_mondo_relaxed.owl FCM|MYOCL1|myoclonus, familial cortical OMIM:614937 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013981 biolink:NamedThing myoclonus, familial A rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most of cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. tmpaxzxjjyw_mondo_relaxed.owl myoclonus, familial cortical|FCM|familial myoclonus|familial cortical myoclonus OMIMPS:614937|UMLS:C3539916|Orphanet:319189|SCTID:763770005|ICD10:G25.3 owl:Class ECTO:9000519 biolink:NamedThing exposure to dioxygen An exposure to dioxygen. tmpaxzxjjyw_mondo_relaxed.owl exposure to dioxygen owl:Class MONDO:0013181 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A3 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene. tmpaxzxjjyw_mondo_relaxed.owl AI2A3|amelogenesis imperfecta hypomaturation type IIA3|amelogenesis imperfecta, hypomaturation type, IIA3|amelogenesis imperfecta hypomaturation type 2A3|amelogenesis imperfecta type IIA3|WDR72 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in WDR72 ICD10:K00.5|DOID:0110061|MESH:C567706|UMLS:C2750771|OMIM:613211|Orphanet:100033 owl:Class MONDO:0015048 biolink:NamedThing amelogenesis imperfecta type 2 tmpaxzxjjyw_mondo_relaxed.owl hypomaturation amelogenesis imperfecta|amelogenesis imperfecta hypomaturation type OMIM:301200|SCTID:109475005|ICD9:520.5|ICD10:K00.5|OMIM:615887|OMIM:204700|OMIM:613211|OMIM:614832|OMIM:617217|OMIM:612529|GARD:0008349|Orphanet:100033|MESH:C536606 owl:Class MONDO:0011507 biolink:NamedThing diabetes mellitus, congenital autoimmune tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, congenital autoimmune OMIM:605026|UMLS:C1857958|MESH:C565730 owl:Class MONDO:0008676 biolink:NamedThing white sponge nevus 1 Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene. tmpaxzxjjyw_mondo_relaxed.owl White sponge Nevus of Cannon|WSN1|white sponge nevus 1|hereditary mucosal leukokeratosis caused by mutation in KRT4|leukokeratosis, hereditary mucosal|White sponge Nevus type 1|WHITE sponge NEVUS 1|KRT4 hereditary mucosal leukokeratosis Orphanet:171723|UMLS:C1721005|OMIM:193900|UMLS:C4011926 owl:Class MONDO:0013802 biolink:NamedThing infantile cerebellar-retinal degeneration Infantile cerebellar retinal degeneration (ICRD) is a genetic condition present from birth (congenital) that involves the brain and eyes. Individuals with this condition usually develop symptoms around six months of age including developmental delays, low muscle tone (hypotonia), and seizures. Other symptoms may include head bobbing, abnormal muscle twitching and movement, and loss of brain cells in the main part of the brain called the cerebellum. Eye findings in individuals with this condition may include retinal degeneration (weakening of the layer of tissue in the back of the eye that senses light), strabismus (crossed eyes), and nystagmus (fast, uncontrollable movements of the eyes). ICRD is caused by mutations in the ACO2 gene and is inherited in an autosomal recessive manner. While there is still no cure for this condition, treatment options will depend on the type and severity of symptoms. tmpaxzxjjyw_mondo_relaxed.owl infantile cerebellar-retinal degeneration|ICRD|infantile cerebellar retinal degeneration DOID:0050883|Orphanet:313850|UMLS:C3281192|OMIM:614559|GARD:0013264|ICD10:E88.8 https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration owl:Class MONDO:0007340 biolink:NamedThing cleidocranial dysplasia Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems. tmpaxzxjjyw_mondo_relaxed.owl cleidocranial dysplasia, forme fruste, with brachydactyly|Marie-Sainton disease|cleidocranial dysostosis|CCD|cleidocranial dysplasia, forme fruste, dental anomalies only|dysplasia cleidocranial|CLCD|cleidocranial dysplasia UMLS:C0008928|MESH:D002973|OMIM:216330|DOID:13994|NCIT:C75020|ICD9:755.59|SCTID:65976001|OMIM:119600|ICD10:Q74.0|Orphanet:1452|GARD:0006118 owl:Class MONDO:0020123 biolink:NamedThing metabolic myopathy A group of rare inherited disorders characterized by a deficiency of enzymes that are involved in metabolic pathways that affect muscles. The disorders are characterized by muscle dysfunction. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270984|Orphanet:98486|SCTID:26111005|MedDRA:10068836|ICD9:359.89|NCIT:C98985 owl:Class MONDO:0016110 biolink:NamedThing non-dystrophic myopathy A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by altered membrane excitability resulting in skeletal muscle stiffness. This group of myotonias is distinct from myotonic dystrophy because of the absence of systemic features or progressive weakness. tmpaxzxjjyw_mondo_relaxed.owl non dystrophic myotonia|non-dystrophic myotonia UMLS:C1828221|SCTID:424795008|NCIT:C122787|Orphanet:206656 owl:Class HP:0000982 biolink:NamedThing Palmoplantar keratoderma Abnormal thickening of the skin of the palms of the hands and the soles of the feet. tmpaxzxjjyw_mondo_relaxed.owl Thickening of palms and soles|Palmar and plantar keratoderma MSH:D007645|SNOMEDCT_US:706885006|UMLS:C0022596 human_phenotype owl:Class HP:0000972 biolink:NamedThing Palmoplantar hyperkeratosis Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. tmpaxzxjjyw_mondo_relaxed.owl Thick palms and soles|Hyperkeratosis of palms and soles|Thickened palms and soles|Thickening of the outer layer of the skin of the palms and soles|Palmoplantar keratoses|Palmoplantar keratosis|Hyperkeratosis of the palms and soles MSH:D007645|SNOMEDCT_US:706885006|UMLS:C0022596 The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. human_phenotype owl:Class MONDO:0016863 biolink:NamedThing Okihiro syndrome due to 20q13 microdeletion tmpaxzxjjyw_mondo_relaxed.owl Okihiro syndrome due to del(20)(q13)|Duane-radial ray syndrome due to monosomy 20q13|Okihiro syndrome due to monosomy 20q13 UMLS:CN202208|ICD10:Q87.8|Orphanet:261638 owl:Class HP:0002148 biolink:NamedThing Hypophosphatemia An abnormally decreased phosphate concentration in the blood. tmpaxzxjjyw_mondo_relaxed.owl Hypophosphataemia|Low blood phosphate level UMLS:C0085682|SNOMEDCT_US:4996001|MSH:D017674 human_phenotype owl:Class HP:0100529 biolink:NamedThing Abnormal blood phosphate concentration An abnormality of phosphate homeostasis or concentration in the body. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of phosphate homeostasis UMLS:C4022032 doelkens 2010-12-20T11:58:32Z human_phenotype owl:Class GO:0009259 biolink:NamedThing ribonucleotide metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpaxzxjjyw_mondo_relaxed.owl ribonucleotide metabolism owl:Class MONDO:0013060 biolink:NamedThing autosomal recessive Parkinson disease 14 A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. tmpaxzxjjyw_mondo_relaxed.owl PLA2G6-related dystonia-parkinsonism|PARK14|autosomal recessive Parkinson's disease 14|hereditary late onset Parkinson disease caused by mutation in PLA2G6|dystonia-Parkinsonism, adult-onset|dystonia-Parkinsonism Adult-onset|PLA2G6 hereditary late onset Parkinson disease|autosomal recessive Parkinson disease type 14|dystonia-parkinsonism, Paisan-Ruiz type|Parkinson disease 14, autosomal recessive|adult-onset dystonia - parkinsonism SCTID:720466001|Orphanet:199351|MESH:C567844|GARD:0012568|ICD10:G24.1|UMLS:C2751842|DOID:0060900|OMIM:612953 owl:Class MONDO:0001817 biolink:NamedThing acute closed-angle glaucoma Acute form of angle-closure glaucoma. tmpaxzxjjyw_mondo_relaxed.owl acute angle-closure glaucoma|angle-closure glaucoma, acute UMLS:C0154946|ICD9:365.22|SCTID:30041005|ICD10:H40.21|DOID:13862 owl:Class MONDO:0001744 biolink:NamedThing angle-closure glaucoma The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity. tmpaxzxjjyw_mondo_relaxed.owl angle closure glaucoma|Narrow cleft glaucoma|ACG - angle-closure glaucoma|primary open-angle glaucoma with narrow angles SCTID:392291006|UMLS:C0017605|SCTID:33647009|DOID:13550|MESH:D015812|NCIT:C34639 owl:Class MONDO:0006846 biolink:NamedThing malignant hypertension Severe hypertension that is characterized by rapid onset of extremely high blood pressure. tmpaxzxjjyw_mondo_relaxed.owl malignant phase hypertension|accelerated-malignant hypertension|MHT|hypertensive emergency MedDRA:10025600|UMLS:C0020540|UMLS:C0745136|EFO:1001031|MESH:D006974|DOID:10824|SCTID:70272006|NCIT:C3118 owl:Class MONDO:0002057 biolink:NamedThing breast leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of breast|breast leiomyoma UMLS:C1511317|DOID:1623|NCIT:C40399 owl:Class MONDO:0019918 biolink:NamedThing maternal uniparental disomy of chromosome 21 tmpaxzxjjyw_mondo_relaxed.owl UPD(21)mat|maternal uniparental disomy of chromosome type 21 ICD10:Q99.8|Orphanet:96187 owl:Class HP:0001114 biolink:NamedThing Xanthelasma The presence of xanthomata in the skin of the eyelid. tmpaxzxjjyw_mondo_relaxed.owl Xanthelasma of periocular region|Fatty deposits in skin around the eyes|Xanthoma|Fatty deposits on eyelids|Xanthelasma palpebrarum|Xanthoma of periocular region|Xanthoma of eyelid|Xanthelasma of eyelid UMLS:C0155210|UMLS:C4280602|SNOMEDCT_US:63103006|UMLS:C4280601|SNOMEDCT_US:75594004|MSH:D014973|SNOMEDCT_US:6400008|UMLS:C0302314 human_phenotype owl:Class HP:0000991 biolink:NamedThing Xanthomatosis The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. tmpaxzxjjyw_mondo_relaxed.owl Xanthomata|Yellow bumps of fatty deposits on skin SNOMEDCT_US:63103006|MSH:D014973|UMLS:C0043325 human_phenotype owl:Class NCBITaxon:451871 biolink:NamedThing Eurotiomycetidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014843 biolink:NamedThing premature ovarian failure 11 Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene. tmpaxzxjjyw_mondo_relaxed.owl premature ovarian failure 11; POF11|POF11|primary ovarian failure caused by mutation in ERCC6|premature ovarian failure type 11|ERCC6 primary ovarian failure|premature ovarian failure 11 UMLS:C4310783|OMIM:616946 owl:Class MONDO:0013650 biolink:NamedThing hypotrichosis 10 A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3. tmpaxzxjjyw_mondo_relaxed.owl HYPT10|hypt10|hypotrichosis 10|hypotrichosis type 10 OMIM:614238|Orphanet:55654|UMLS:C3280253|DOID:0110707 owl:Class MONDO:0003037 biolink:NamedThing hypotrichosis A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body. tmpaxzxjjyw_mondo_relaxed.owl MESH:D007039|Orphanet:55654|OMIMPS:605389|NCIT:C34720|SCTID:53602002|DOID:4535|ICD9:704.09 owl:Class MONDO:0018667 biolink:NamedThing pleural empyema The presence of pus in the thoracic cavity, between the visceral and parietal pleura. tmpaxzxjjyw_mondo_relaxed.owl pyothorax|purulent pleuritis|abscess of thorax|empyema of pleura|thorax abscess|pleural empyema (disease)|pleural empyema|abscess of pleural cavity|empyema|purulent pleurisy pleural empyema (disease) ICD10:J86|DOID:3798|Orphanet:449266|MESH:D016724|HP:0011919|ICD10:J86.9|SCTID:405950009 owl:Class MONDO:0005538 biolink:NamedThing proctitis An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease. tmpaxzxjjyw_mondo_relaxed.owl rectitis|inflammation of anus|anus inflammation MESH:D011349|SCTID:3951002|NCIT:C38011|ICD9:569.49|EFO:0005628|DOID:3127|ICD10:K62.89|UMLS:C0033246 owl:Class HGNC:5461 biolink:NamedThing IGBP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0014057 biolink:NamedThing positive regulation of acetylcholine secretion, neurotransmission Any process that activates or increases the frequency, rate or extent of the regulated release of acetylcholine. tmpaxzxjjyw_mondo_relaxed.owl stimulation of acetylcholine secretion|activation of acetylcholine secretion|upregulation of acetylcholine secretion|up regulation of acetylcholine secretion|up-regulation of acetylcholine secretion owl:Class MONDO:0017722 biolink:NamedThing Sandhoff disease, juvenile form tmpaxzxjjyw_mondo_relaxed.owl Hexosaminidases A and B deficiency, juvenile form|juvenile GM2 gangliosidosis 0 variant Orphanet:309162|OMIM:268800|ICD10:E75.0|UMLS:CN203618 owl:Class MONDO:0013405 biolink:NamedThing retinitis pigmentosa 49 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 49|CNGA1 retinitis pigmentosa|retinitis pigmentosa 49|retinitis pigmentosa caused by mutation in CNGA1|RP49 ICD10:H35.5|UMLS:C3151059|OMIM:613756|DOID:0110377 owl:Class MONDO:0017791 biolink:NamedThing high bone mass osteogenesis imperfecta tmpaxzxjjyw_mondo_relaxed.owl high bone mass OI Orphanet:314029|ICD10:Q78.0|UMLS:CN203741 owl:Class GO:0060766 biolink:NamedThing negative regulation of androgen receptor signaling pathway Any process that decreases the rate, frequency, or extent of the androgen receptor signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of androgen receptor signalling pathway owl:Class GO:0060765 biolink:NamedThing regulation of androgen receptor signaling pathway Any process that modulates the rate, frequency, or extent of the androgen receptor signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl regulation of androgen receptor signalling pathway owl:Class MONDO:0015070 biolink:NamedThing laryngeal neuroendocrine neoplasm A benign or malignant neoplasm with neuroendocrine differentiation that arises from the larynx. This category includes paraganglioma, carcinoid tumor, small cell carcinoma, and large cell neuroendocrine carcinoma. tmpaxzxjjyw_mondo_relaxed.owl laryngeal neuroendocrine neoplasm|neuroendocrine neoplasm of larynx|larynx neuroendocrine tumor, well differentiated, low or intermediate grade|larynx neuroendocrine tumor|neuroendocrine tumor of larynx|larynx NET|neuroendocrine neoplasm of the larynx|laryngeal neuroendocrine tumor|larynx neuroendocrine neoplasm Orphanet:100083|UMLS:C1334374|NCIT:C6023|SCTID:707625001|DOID:5457 owl:Class UBERON:0034764 biolink:NamedThing remnant of cardiac valve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003328 biolink:NamedThing fallopian tube adenomatoid tumor A benign neoplasm that arises from the fallopian tube and originates from mesothelial cells. It is characterized by the presence of gland-like structures that are lined by flat or cuboidal cells. It is usually discovered as an incidental finding. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube adenomatoid tumor DOID:5196|NCIT:C40129|UMLS:C1517110 owl:Class MONDO:0002373 biolink:NamedThing benign mesothelioma A benign proliferative neoplasm made up of epithelial and mesenchymal cells of the mesothelium which make up part of the serosal covering and lining of various organ surfaces within the body. tmpaxzxjjyw_mondo_relaxed.owl mesothelioma, benign|benign tumor of mesothelium|benign tumor of mesothelial tissue SCTID:254825007|DOID:2645|ICD9:215.9|ICD10:C45.9|UMLS:C0348424|ICD10:C45 owl:Class MONDO:0009861 biolink:NamedThing phenylketonuria Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients. tmpaxzxjjyw_mondo_relaxed.owl oligophrenia phenylpyruvica|phenylalaninemia|HPA, non-PKU mild|phenylketonuria|oligophrenia Phenylpyruvica|phenylpyruvic oligophrenia|phenylalanine hydroxylase deficiency|hyperphenylalaninemia, non-PKU mild|PKU|imbecilitus phenylpyruvica|PAH deficiency|phenylketonuria, maternal DOID:9281|MedDRA:10034872|GARD:0007383|ICD9:270.1|OMIM:261600|MESH:D010661|Orphanet:2209|Orphanet:716|NCIT:C81315|SCTID:7573000|ICD10:E70.0|UMLS:C0031485|ICD10:E70.1 owl:Class MONDO:0004925 biolink:NamedThing chronic dacryocystitis Chronic form of dacryocystitis. tmpaxzxjjyw_mondo_relaxed.owl dacryocystitis, chronic UMLS:C0149506|ICD10:H04.41|DOID:9937|ICD9:375.42|SCTID:84627005 owl:Class MONDO:0004923 biolink:NamedThing chronic inflammation of lacrimal passage tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155239|ICD10:H04.4|ICD9:375.4|SCTID:267653001|DOID:9935 owl:Class UBERON:0003603 biolink:NamedThing lower respiratory tract cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008856 biolink:NamedThing immunodeficiency 27A tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency type 27A|mycobacterial disease, Mendelian susceptibility to|immunodeficiency 27A, Mycobacteriosis, autosomal recessive|IMD27A|immunodeficiency 27A|atypical mycobacteriosis, familial|IFNGR1 deficiency, autosomal recessive|atypical mycobacterial infection, familial disseminated|atypical mycobacterial infection, disseminated UMLS:C4011949|UMLS:C3266863|Orphanet:319569|Orphanet:99898|OMIM:209950|GARD:0009185 owl:Class MONDO:0020592 biolink:NamedThing disorder of pharynx A non-neoplastic or neoplastic disorder that affects the pharynx. Representative examples include pharyngitis and carcinoma. tmpaxzxjjyw_mondo_relaxed.owl chordate pharynx disease|disease of chordate pharynx|pharyngeal disease|disorder of chordate pharynx|chordate pharynx disease or disorder|disease or disorder of chordate pharynx|pharyngeal disorder SCTID:75860007|GARD:0007266|NCIT:C26850 owl:Class MONDO:0005208 biolink:NamedThing amelanotic skin melanoma A amelanotic melanoma that involves the zone of skin. tmpaxzxjjyw_mondo_relaxed.owl amelanotic malignant melanoma of skin|amelanotic malignant skin melanoma|amelanotic melanoma of the skin|zone of skin amelanotic melanoma|amelanotic melanoma of zone of skin|amelanotic skin melanoma|amelanotic melanoma of skin|amelanotic malignant melanoma of the skin|amelanotic cutaneous (skin) melanoma|amelanotic malignant melanoma (of skin)|skin amelanotic malignant melanoma|skin amelanotic melanoma UMLS:C0349515|NCIT:C4633|EFO:0002894|Wikipedia:Amelanotic_melanoma|DOID:10054 owl:Class MONDO:0002971 biolink:NamedThing amelanotic melanoma A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction. tmpaxzxjjyw_mondo_relaxed.owl amelanotic melanoma|amelanotic melanomas|melanoma, amelanotic, malignant|melanomas, amelanotic|amelanotic melanoma (morphologic abnormality) MESH:D018328|EFO:1001937|UMLS:C0206735|DOID:4359|ICDO:8730/3|NCIT:C3802 owl:Class MONDO:0018974 biolink:NamedThing paraneoplastic pemphigus Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1112570|ICD10:L10.81|Orphanet:63455|EFO:0008602|ICD10:L10.8|MedDRA:10057056 owl:Class MONDO:0021073 biolink:NamedThing paraneoplastic syndrome A classification for rare disorders of diverse organ systems (endocrine, neuromuscular, gastrointestinal, renal, dermatologic, rheumatologic, hematologic) that are affected by substances secreted by a distant neoplasm but not by the action of the neoplasm itself metastasizing to that organ or tissue. Less than 1 % of neoplasms are associated with these syndromes. An immune-mediated response to neoplasm-elaborated proteins may be the cause of these syndromes. Additionally, their manifestation may signal the presence of an occult neoplasm, potentially at an earlier stage of disease thereby leading to a better clinical outcome. Constitutional signs may include fever, night sweats, anorexia and cachexia. Clinical course is usually progressive. Prognosis is variable depending on the effective treatment of the underlying neoplasm. tmpaxzxjjyw_mondo_relaxed.owl paraneoplastic syndrome MESH:D010257|NCIT:C3311|SCTID:49783001|UMLS:C0030472 owl:Class GO:0002523 biolink:NamedThing leukocyte migration involved in inflammatory response The movement of a leukocyte within or between different tissues and organs of the body contributing to an inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl immune cell migration during inflammatory response|leukocyte migration during inflammatory response|leukocyte trafficking during inflammatory response|leucocyte trafficking during inflammatory response|immune cell trafficking during inflammatory response|leucocyte migration during inflammatory response owl:Class GO:0050900 biolink:NamedThing leukocyte migration The movement of a leukocyte within or between different tissues and organs of the body. tmpaxzxjjyw_mondo_relaxed.owl immune cell trafficking|leucocyte trafficking|leukocyte trafficking|immune cell migration|leucocyte migration owl:Class HGNC:609 biolink:NamedThing APOC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001520 biolink:NamedThing kleptomania A disorder characterized by the recurrent failure to resist the impulse to steal items of little intrinsic value; the individual experiences a rising subjective sense of tension before the theft and a sense of gratification or relief during the theft. tmpaxzxjjyw_mondo_relaxed.owl pathological stealing|kleptomania SCTID:69361009|ICD9:312.32|NCIT:C94333|DOID:12400|ICD10:F63.2 owl:Class MONDO:0001162 biolink:NamedThing impulse control disorder A category of behaviors that can be loosely defined as the failure to resist an impulsive act or behavior that may be harmful to self or others. tmpaxzxjjyw_mondo_relaxed.owl impulse-control disorder|ICD NCIT:C34723|ICD9:312.30|DOID:10937|ICD9:312.39|ICD10:F63.9|SCTID:66347000 owl:Class MONDO:0008322 biolink:NamedThing pseudoachondroplasia Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis. tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia, PSEUDOACHONDROPLASTIC|Pseudoachondroplastic dysplasia|spondyloepiphyseal dysplasia, Pseudoachondroplastic|Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome|PSACH|pseudoachondroplasia|pseudoachondroplastic dysplasia|Pseudoachondroplastic spondyloepiphyseal dysplasia SCTID:22567005|GARD:0004540|MESH:C535819|NCIT:C118635|ICD9:756.9|Orphanet:750|ICD10:Q77.8|DOID:0080047|OMIM:177170|UMLS:C0410538 https://rarediseases.info.nih.gov/diseases/4540/pseudoachondroplasia owl:Class HGNC:2939 biolink:NamedThing DNA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010375 biolink:NamedThing developmental and epileptic encephalopathy, 8 tmpaxzxjjyw_mondo_relaxed.owl early infantile epileptic encephalopathy 8|DEE8|hyperekplexia-epilepsy syndrome|epileptic encephalopathy, early infantile, 8|hyperekplexia and epilepsy|epileptic encephalopathy, early infantile, type 8|EIEE8 MESH:C564474|OMIM:300607|ICD10:G25.8|DOID:0080215|UMLS:C1845102|Orphanet:163985 owl:Class MONDO:0019121 biolink:NamedThing pneumocystosis Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole. tmpaxzxjjyw_mondo_relaxed.owl Pneumocystis|pneumocystosis|Pneumocystis jirovecii pneumonia|Pneumocystis carinii pneumonia|pulmonary pneumocystosis|PJP|Pneumocystis pneumonia|pneumocystosis pneumonia|PCP ICD10:B59|GARD:0004386|MESH:D011020|SCTID:415125002|UMLS:C1535939|ICD10:J17.3*|DOID:11339|EFO:0007448|ICD9:136.3|ICD10:B59+|Orphanet:723|NCIT:C3334 https://rarediseases.info.nih.gov/diseases/4386/pneumocystosis owl:Class MONDO:0005923 biolink:NamedThing Pneumocystis infectious disease Infections with species in the genus pneumocystis, a fungus causing interstitial plasma cell pneumonia (pneumonia, pneumocystis) and other infections in humans and other mammals. Immunocompromised patients, especially those with aids, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally. tmpaxzxjjyw_mondo_relaxed.owl Pneumocystis infection|infections, Pneumocystis UMLS:C0851886|MESH:D016720|EFO:0007447 owl:Class GO:0070295 biolink:NamedThing renal water absorption A renal system process in which water is taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. tmpaxzxjjyw_mondo_relaxed.owl nephron water absorption|renal water reabsorption owl:Class GO:0003097 biolink:NamedThing renal water transport The directed movement of water (H2O) by the renal system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000416 biolink:NamedThing myoepithelial cell of lactiferous gland A myoepithelial cell that is part of the mammary gland. tmpaxzxjjyw_mondo_relaxed.owl basal cell of lactiferous duct CALOHA:TS-2378|FMA:67800 cell owl:Class CL:0000185 biolink:NamedThing myoepithelial cell Contractile cells resembling smooth muscle cells that are present in glands, notably the mammary gland, and aid in secretion. This cell has long weaving dendritic processes containing myofilament. tmpaxzxjjyw_mondo_relaxed.owl basket epithelial cell|myoepitheliocyte FMA:67799|BTO:0002309|CALOHA:TS-2379 cell owl:Class HGNC:409 biolink:NamedThing ALDH1A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019632 biolink:NamedThing Lyme disease Lyme disease (named after the towns in the USA where the disease was first identified) is a bacterial infection caused by Borrelia burgdorferi. tmpaxzxjjyw_mondo_relaxed.owl Borrelia|Borreliella burgdorferi caused disease or disorder|Bannworth's syndrome|Bannwarth syndrome|Lyme neuroborreliosis|Borrelia burgdorferi infection|Borreliella burgdorferi infectious disease|neurological Lyme disease|Lyme borreliosis|Borreliella burgdorferi disease or disorder|neuroborreliosis|Lyme disease MESH:D008193|ICD9:088.81|DOID:11729|SCTID:48982009|MedDRA:10025169|GARD:0012073|Orphanet:91546|ICD10:A69.2|ICD10:A69.20|EFO:0008510|NCIT:C45161|UMLS:C0024198 owl:Class MONDO:0019489 biolink:NamedThing diffuse palmoplantar keratoderma - acrocyanosis syndrome Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterised by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome ICD10:Q82.8|Orphanet:86918|UMLS:CN206272 owl:Class MONDO:0017666 biolink:NamedThing diffuse palmoplantar keratoderma tmpaxzxjjyw_mondo_relaxed.owl diffuse keratosis palmoplantaris|diffuse PPK|diffuse palmoplantar hyperkeratosis UMLS:C0022584|SCTID:400123002|ICD9:757.39|Orphanet:307141|ICD10:Q82.8|HP:0007435 owl:Class GO:0010628 biolink:NamedThing positive regulation of gene expression Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1160 biolink:NamedThing TWNK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0040678 biolink:NamedThing infiltrating urothelial carcinoma A invasive carcinoma that involves the urothelium. tmpaxzxjjyw_mondo_relaxed.owl infiltrating transitional cell carcinoma of the urinary tract|infiltrating urothelial carcinoma NCIT:C39853|UMLS:C1512751 owl:Class MONDO:0014242 biolink:NamedThing van Maldergem syndrome 2 Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene. tmpaxzxjjyw_mondo_relaxed.owl FAT4 van Maldergem syndrome|VAN Maldergem syndrome 2|van Maldergem syndrome caused by mutation in FAT4|VMLDS2|Van Maldergem syndrome type 2|van Maldergem syndrome 2 OMIM:615546|DOID:0080586|UMLS:C3809875|Orphanet:314679 owl:Class MONDO:0017813 biolink:NamedThing van Maldergem syndrome Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia. tmpaxzxjjyw_mondo_relaxed.owl Van Maldergem syndrome|cerebro-facio-articular syndrome|Van Maldergem Wetzburger Verloes syndrome|cerebro-facio-articular syndrome of Van Maldergem DOID:0060238|Orphanet:314679|UMLS:CN203783|OMIMPS:601390|OMIM:601390|OMIM:615546|GARD:0005456 owl:Class MONDO:0000688 biolink:NamedThing inherited organic acidemia An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage. tmpaxzxjjyw_mondo_relaxed.owl disorder of organic acid metabolism|rare inborn error of organic acid metabolic process|organic acid metabolism disorder|inborn error of organic acid metabolic process|organic acidemia|organic aciduria|inborn organic acid metabolic process disorder NCIT:C101334|UMLS:C1263739|DOID:0060159|GARD:0009433|Orphanet:289899|ICD9:277.89 https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia owl:Class GO:0002791 biolink:NamedThing regulation of peptide secretion Any process that modulates the frequency, rate, or extent of peptide secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010122 biolink:NamedThing congenital thrombotic thrombocytopenic purpura Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. tmpaxzxjjyw_mondo_relaxed.owl hereditary thrombotic thrombocytopenic purpura|Microangiopathic hemolytic Anemia, congenital|Upshaw-Schulman syndrome|Microangiopathic hemolytic Anemia|TTP, congenital|thrombotic microangiopathy, familial|Schulman-Upshaw syndrome|thrombotic thrombocytopenic purpura, congenital|USS|congenital thrombotic thrombocytopenic purpura|familial TTP|congenital ADAMTS13 deficiency|thrombotic thrombocytopenic purpura, familial|TTP|Upshaw Factor, deficiency of|congenital TTP|congenital ADAMTS-13 deficiency ICD9:287.33|OMIM:274150|ICD10:M31.3|Orphanet:54057|SCTID:373420004|NCIT:C131657|Orphanet:93583|GARD:0009430 owl:Class MONDO:0017710 biolink:NamedThing congenital systemic veins anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:3091 owl:Class MONDO:0002369 biolink:NamedThing cystadenoma A benign or borderline cystic epithelial neoplasm arising from the glandular epithelium. The epithelial cells line the cystic spaces which contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenomas. tmpaxzxjjyw_mondo_relaxed.owl cystadenoma (morphologic abnormality)|cystadenoma|cystadenoma, benign|cystoma ICDO:8440/0|MESH:D003537|UMLS:C0010633|DOID:2634|NCIT:C2972 owl:Class MONDO:0003519 biolink:NamedThing malignant syringoma A malignant form of syringoma. tmpaxzxjjyw_mondo_relaxed.owl syringoma, malignant|syringomatous carcinoma|MAC|microcystic adnexal carcinoma of skin|microcystic adnexal carcinoma SCTID:254712007|DOID:5569|NCIT:C7581|ONCOTREE:MAC|GARD:0010438|UMLS:C0346027 owl:Class MONDO:0005723 biolink:NamedThing Cryptococcal meningitis Meningeal inflammation produced by cryptococcus neoformans, an encapsulated yeast that tends to infect individuals with acquired immunodeficiency syndrome and other immunocompromised states. The organism enters the body through the respiratory tract, but symptomatic infections are usually limited to the lungs and nervous system. The organism may also produce parenchymal brain lesions (torulomas). Clinically, the course is subacute and may feature headache; nausea; photophobia; focal neurologic deficits; seizures; cranial neuropathies; and hydrocephalus. (From Adams et al., Principles of Neurology, 6th ed, pp721-2) tmpaxzxjjyw_mondo_relaxed.owl Cryptococcus neoformans caused infectious meningitis|Cryptococcus neoformans infectious meningitis MESH:D016919|SCTID:14232007|EFO:0007228|ICD9:321.0|DOID:0080159 owl:Class MONDO:0004796 biolink:NamedThing infectious meningitis Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures. tmpaxzxjjyw_mondo_relaxed.owl meningitis|infectious meningitis|infective meningitis SCTID:312216007|SCTID:7180009|ICD10:G03.9|ICD9:321.8|EFO:0000584|HP:0001287|NCIT:C79598|ICD10:G03|NCIT:C26828|ICD9:322.9|MESH:D008581|DOID:9471|ICD9:322 owl:Class HGNC:17869 biolink:NamedThing AFF4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014218 biolink:NamedThing severe dermatitis-multiple allergies-metabolic wasting syndrome tmpaxzxjjyw_mondo_relaxed.owl SAM syndrome|Sam syndrome|erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-IgE|severe dermatitis, multiple allergies, and metabolic wasting syndrome|EPKHE|congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome UMLS:C3809719|Orphanet:369992|OMIM:615508|ICD10:Q82.8 owl:Class MONDO:0018037 biolink:NamedThing hyper-IgE syndrome A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections. tmpaxzxjjyw_mondo_relaxed.owl hyper-IgE recurrent infection syndrome|HIES|hyperimmunoglobulin E syndrome DOID:0080545|NCIT:C3144|ICD10:D82.4|GARD:0010956|OMIMPS:147060|UMLS:CN204280|Orphanet:331223 owl:Class MONDO:0014833 biolink:NamedThing heart and brain malformation syndrome tmpaxzxjjyw_mondo_relaxed.owl heart and brain malformation syndrome; HBMS|heart and brain malformation syndrome|HBMS OMIM:616920|UMLS:C4310793 owl:Class MONDO:0002479 biolink:NamedThing Sertoli-Leydig cell tumor A sex cord-gonadal stromal tumor consists of leydig cells; sertoli cells; and fibroblasts in varying proportions and degree of differentiation. Most such tumors produce androgens in the Leydig cells, formerly known as androblastoma or arrhenoblastoma. Androblastomas occur in the testis or the ovary causing precocious masculinization in the males, and defeminization, or virilization (virilism) in the females. In some cases, the Sertoli cells produce estrogens. tmpaxzxjjyw_mondo_relaxed.owl DOID:2997|MESH:D018310|UMLS:C0206723|ONCOTREE:SLCT|GARD:0009967 owl:Class MONDO:0003125 biolink:NamedThing testicular sex cord-stromal neoplasm A benign or malignant tumor that arises from the testis. It is composed of granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. Each of these cell types may constitute the only cellular component that is present in the tumor or it may be mixed with other cell types in various combinations. The prognosis can not always be predicted on histologic grounds alone. Approximately, ten percent of these tumors may metastasize. Representative examples include granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and tumors of the thecoma-fibroma group. tmpaxzxjjyw_mondo_relaxed.owl sex cord-stromal tumor of testis|sex cord-stromal neoplasm|sex cord-stromal tumor of the testis|testicular sex cord-stromal neoplasm|sex cord-stromal neoplasm of the testis|testis sex cord-stromal tumor|testicular sex cord-stromal tumor|sex cord-stromal neoplasm of testis NCIT:C6358|Orphanet:363489|SCTID:702406000|UMLS:C3840076|ICD10:C62.1|UMLS:CN204701|DOID:4757 owl:Class MONDO:0001081 biolink:NamedThing acute cervicitis Acute inflammation of the cervix. Clinical manifestations include mucopurulent vaginal discharge and burning sensation. tmpaxzxjjyw_mondo_relaxed.owl acute cervicitis (disease)|cervicitis (disease), acute DOID:10616|SCTID:19272000|UMLS:C0269061|NCIT:C27056 owl:Class MONDO:0007362 biolink:NamedThing cone-rod dystrophy 2 Any cone-rod dystrophy in which the cause of the disease is a mutation in the CRX gene. tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy caused by mutation in CRX|CRD2|cone-rod dystrophy|cone-rod retinal dystrophy|CORD2|CRX cone-rod dystrophy|retinal cone-rod dystrophy 2|cone-rod dystrophy 2|RCRD2|cone-rod retinal dystrophy 2|retinal cone-rod dystrophy|cone-rod dystrophy type 2 GARD:0006145|UMLS:CN074280|UMLS:C0035334|DOID:0111005|OMIM:120970|SCTID:80328002|ICD9:362.75|Orphanet:1872 owl:Class MONDO:0015993 biolink:NamedThing cone-rod dystrophy Inherited retinal dystrophies that belong to the group of pigmentary retinopathies. tmpaxzxjjyw_mondo_relaxed.owl cone rod dystrophy|CRD|cone-rod retinal dystrophy ICD10:H35.5|OMIM:602093|OMIM:615374|OMIMPS:120970|OMIM:605549|OMIM:615163|OMIM:601777|Orphanet:1872|OMIM:612775|OMIM:615860|OMIM:300476|OMIM:604116|OMIM:303700|OMIM:600977|DOID:0050572|OMIM:604393|OMIM:614500|OMIM:610381|OMIM:600624|OMIM:613660|OMIM:603649|OMIM:610478|OMIM:120970|GARD:0010790|OMIM:612657|OMIM:616502|OMIM:300834|OMIM:304020|OMIM:610283|OMIM:615973|OMIM:608194 owl:Class MONDO:0010428 biolink:NamedThing chromosome Xp11.23-p11.22 duplication syndrome A form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. tmpaxzxjjyw_mondo_relaxed.owl trisomy Xp11.22-p11.23|chromosome Xp11.23-p11.22 duplication syndrome|microduplication Xp11.22-p11.23 syndrome DOID:0060461|Orphanet:217377|SCTID:721881008|GARD:0012766|MESH:C567585|OMIM:300801|ICD10:Q99.8 owl:Class MONDO:0033259 biolink:NamedThing hearing loss, autosomal dominant 72 tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 72|deafness, autosomal dominant 72|DFNA72 OMIM:617606|DOID:0080268|Orphanet:90635 owl:Class UBERON:0002390 biolink:NamedThing hematopoietic system tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002704 biolink:NamedThing negative regulation of leukocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of immune cell mediated immunity|down regulation of leukocyte mediated immunity|negative regulation of leucocyte mediated immunity|downregulation of leukocyte mediated immunity|inhibition of leukocyte mediated immunity|down-regulation of leukocyte mediated immunity owl:Class GO:0002698 biolink:NamedThing negative regulation of immune effector process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune effector process. tmpaxzxjjyw_mondo_relaxed.owl down regulation of immune effector process|down-regulation of immune effector process|downregulation of immune effector process|inhibition of immune effector process owl:Class MONDO:0014813 biolink:NamedThing hypomyelinating leukodystrophy 13 Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene. tmpaxzxjjyw_mondo_relaxed.owl HIKESHI leukodystrophy|leukodystrophy caused by mutation in hikeshi|hikeshi leukodystrophy|HLD13|hypomyelinating leukodystrophy type 13|leukodystrophy caused by mutation in HIKESHI|leukodystrophy, hypomyelinating, type 13|leukodystrophy, hypomyelinating, 13 DOID:0060795|OMIM:616881|UMLS:C4225170 owl:Class GO:0016127 biolink:NamedThing sterol catabolic process The chemical reactions and pathways resulting in the breakdown of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. tmpaxzxjjyw_mondo_relaxed.owl sterol degradation|sterol catabolism|sterol breakdown owl:Class MONDO:0001396 biolink:NamedThing abnormal threshold of rods tmpaxzxjjyw_mondo_relaxed.owl abnormal dark adaptation curve SCTID:50455002|UMLS:C0155019|ICD10:H53.61|DOID:11874|ICD9:368.63 owl:Class MONDO:0004588 biolink:NamedThing night blindness Inability to see clearly in dim light. tmpaxzxjjyw_mondo_relaxed.owl nyctalopia ICD10:H53.60|ICD9:368.60|MESH:D009755|ICD9:368.69|ICD10:H53.6|NCIT:C34850|NCIT:C37997|SCTID:65194006|DOID:8499|ICD9:368.6|UMLS:C0028077 owl:Class MONDO:0008215 biolink:NamedThing adult-onset autosomal dominant demyelinating leukodystrophy Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cognitive impairment. tmpaxzxjjyw_mondo_relaxed.owl leukodystrophy, demyelinating, ADULT-onset, autosomal dominant|adult-onset autosomal dominant demyelinating leukodystrophy|adult-onset autosomal dominant leukodystrophy|ADLD|Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type, formerly|autosomal dominant leukodystrophy with autonomic disease|autosomal dominant adult-onset demyelinating leukodystrophy|multiple sclerosis-like disorder|Pelizaeus-Merzbacher disease, autosomal dominant or late-onset type|autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease GARD:0010587|DOID:0060785|MESH:C566813|ICD10:E75.2|SCTID:448054001|OMIM:169500|Orphanet:99027 owl:Class HGNC:2728 biolink:NamedThing DDOST tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002688 biolink:NamedThing regulation of leukocyte chemotaxis Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. tmpaxzxjjyw_mondo_relaxed.owl regulation of leucocyte chemotaxis|regulation of immune cell chemotaxis owl:Class GO:0050920 biolink:NamedThing regulation of chemotaxis Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004486 biolink:NamedThing endocervical type cervical adenomyoma An adenomyoma that arises from the cervix and is characterized by the presence of endocervical mucinous glands and a smooth muscle cell component. There is no atypia or significant mitotic activity present. tmpaxzxjjyw_mondo_relaxed.owl cervical adenomyoma, endocervical type DOID:8177|NCIT:C40232|UMLS:C1516405 owl:Class PATO:0000957 biolink:NamedThing opacity An optical quality which obtains by virtue of the ability of the bearer to absorb visible light. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001300 biolink:NamedThing optical quality An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006935 biolink:NamedThing pulmonary subvalvular stenosis The obstruction of the right ventricular outflow tract that originates within the body of the right ventricle, that exists at the time of birth; it often occurs in association with other intracardiac anomalies. tmpaxzxjjyw_mondo_relaxed.owl pulmonary infundibular stenosis|infundibular pulmonic stenosis, congenital|congenital infundibular stenosis|subvalvular pulmonic stenosis|infundibular pulmonic stenosis DOID:8861|SCTID:204370002|ICD10:Q24.3|MESH:D011662|NCIT:C34961|EFO:1001137|ICD9:746.83 owl:Class MONDO:0006936 biolink:NamedThing pulmonary valve stenosis The pathologic narrowing of the orifice of the pulmonary valve. This lesion restricts blood outflow from the right ventricle to the pulmonary artery. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete. tmpaxzxjjyw_mondo_relaxed.owl DOID:6420|MESH:D011666|MedDRA:10037450|EFO:1001138 owl:Class MONDO:0019628 biolink:NamedThing Rieger anomaly Rieger's anomaly is a congenital ocular defect caused by anterior segment dysgenesis and is characterized by severe anterior chamber deformity with prominent strands and marked atrophy of the iris stroma, with hole or pseudo-hole formation and corectopia. The term covers the association of these iris and pupil anomalies with the features of AxenfeldBs anomaly. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q13.8|Orphanet:91483|OMIM:602482|OMIM:137600|MedDRA:10059198|OMIM:601631 owl:Class MONDO:0011119 biolink:NamedThing iridogoniodysgenesis tmpaxzxjjyw_mondo_relaxed.owl IRID DOID:0050786|Orphanet:98634 Editor note: see https://github.com/monarch-initiative/mondo/issues/203; this groups IRID1 and IRID2 owl:Class MONDO:0003959 biolink:NamedThing breast large cell neuroendocrine carcinoma A poorly differentiated neuroendocrine carcinoma that arises from the breast. It is characterized by the presence of large neuroendocrine cells and high mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl large cell neuroendocrine carcinoma of breast|breast large cell neuroendocrine carcinoma UMLS:C1511316|NCIT:C40356|DOID:6657 owl:Class MONDO:0002485 biolink:NamedThing breast neuroendocrine neoplasm A neoplasm that arises from the breast and is composed of cells of neuroendocrine origin. Most cases are neuroendocrine carcinomas. Primary carcinoid tumors of the breast are very rare. tmpaxzxjjyw_mondo_relaxed.owl breast neuroendocrine tumor|neuroendocrine neoplasm of the breast|neuroendocrine neoplasm of breast|neuroendocrine tumor of the breast|breast neuroendocrine tumor, well differentiated, low or intermediate grade|breast NET|breast neuroendocrine neoplasm|breast endocrine neoplasm UMLS:C1332635|NCIT:C5169|DOID:3009 owl:Class MONDO:0026726 biolink:NamedThing nephrotic syndrome, type 20 tmpaxzxjjyw_mondo_relaxed.owl NPHS20|NEPHROTIC SYNDROME, TYPE 20 OMIM:301028|DOID:0070357 owl:Class MONDO:0003516 biolink:NamedThing adult teratoma A teratoma that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl teratoma|adult teratoma|teratoma of adults UMLS:C1368888|DOID:5565|NCIT:C9013|UMLS:C1368898 owl:Class MONDO:0005061 biolink:NamedThing lung adenocarcinoma A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor. tmpaxzxjjyw_mondo_relaxed.owl nonsmall cell adenocarcinoma|lung adenocarcinoma|adenocarcinoma of the lung|bronchogenic lung adenocarcinoma|non-small cell lung adenocarcinoma|adenocarcinoma of lung SCTID:254626006|EFO:0005288|DOID:3910|NCIT:C3512|GARD:0005742|OMIM:211980|EFO:0000571|Orphanet:415268|MESH:C538231|UMLS:C0152013|ONCOTREE:LUAD https://rarediseases.info.nih.gov/diseases/5742/lung-adenocarcinoma owl:Class MONDO:0003864 biolink:NamedThing chronic lymphocytic leukemia/small lymphocytic lymphoma An indolent, mature B-cell neoplasm composed of small, round B-lymphocytes. When the bone marrow and peripheral blood are involved, the term chronic lymphocytic leukemia is used. The term small lymphocytic lymphoma is restricted to cases which do not show leukemic involvement of the bone marrow and peripheral blood. tmpaxzxjjyw_mondo_relaxed.owl chronic lymphocytic leukemia/small lymphocytic lymphoma|CLL/SLL|chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality) UMLS:C1302547|ONCOTREE:CLLSLL|NCIT:C27911|ICDO:9823/3|DOID:6354 owl:Class MONDO:0004948 biolink:NamedThing B-cell chronic lymphocytic leukemia B-cell chronic lymphocytic leukemia (B-CLL) is a type of B-cell non-Hodgkin lymphoma, and the most common form of leukemia in Western countries, affecting elderly adults (mean age of 67 and 72 years) with a slight male predominance (1.7:1), and characterized by a highly variable clinical presentation that can include asymptomatic disease or non-specific B-symptoms such as unintentional weight loss, severe fatigue, fever (without evidence of infection), and night sweats as well as cervical lymphadenopathy, splenomegaly and frequent infections. Some patients can also develop autoimmune complications such as autoimmune hemolytic anemia or immune thrombocytopenia. The clinical course is extremely heterogeneous with survival ranging from a few months to several decades. tmpaxzxjjyw_mondo_relaxed.owl leukemia, lymphocytic, chronic|chronic lymphatic leukemia|BCLL|B-cell chronic lymphoid leukemia|B-cell lymphocytic leukemia|leukemia, chronic LYMPHOCYTIC|chronic lymphogenous leukemia|B cell lymphocytic leukemia|leukemia, chronic lymphatic|chronic lymphocytic leukemia|chronic lymphocytic leukemia (CLL)|B cell chronic lymphocytic leukemia|CLL|B-cell chronic lymphogenous leukemia|lymphoplasmacytic leukemia|B cell CLL|B-CLL|small lymphocytic lymphoma|chronic B-cell lymphocytic leukemia|B-cell chronic lymphocytic leukemia|hematopoeitic - chronic lymphocytic leukemia (CLL)|B-cell CLL UMLS:C0855095|OMIM:109543|ICD10:C91.1|MESH:D015451|OMIM:612559|DOID:1040|ICD10:C91.10|OMIM:612558|OMIM:151400|GARD:0006104|ICD9:204.1|MedDRA:10008958|Orphanet:67038|EFO:0000095|OMIM:612557|OMIM:609630|UMLS:C0023434|NCIT:C3163 owl:Class MONDO:0005515 biolink:NamedThing oral cavity cancer A primary or metastatic malignant neoplasm involving the oral cavity. The majority are squamous cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of oral cavity|malignant tumor of the mouth|malignant neoplasm of lateral floor of mouth|malignant oral cavity tumor|malignant tumor of the floor of the mouth|malignant neoplasm of lateral portion of floor of mouth|malignant neoplasm of floor of mouth|malignant tumor of mouth|malignant tumor of lateral floor of mouth|oral cavity cancer|malignant mouth neoplasm|malignant neoplasm of mouth|malignant neoplasm of anterior portion of floor of mouth|malignant neoplasm of the mouth|malignant oral cavity neoplasm|cancer of oral cavity|mouth cancer|malignant tumor of anterior floor of mouth|malignant mouth tumor|malignant tumor of oral cavity ICD9:144.1|ICD9:149.8|ICD9:144.0|ICD10:C04.1|ICD10:C04.9|ICD9:145.8|ICD10:C04.0|EFO:0005570|ICD9:145.9|ICD9:144|DOID:8618|NCIT:C9314|SCTID:363505006|ICD10:C04|ICD9:144.9 owl:Class MONDO:0002516 biolink:NamedThing digestive system cancer A primary or metastatic malignant neoplasm involving any part of the digestive system. tmpaxzxjjyw_mondo_relaxed.owl malignant digestive system neoplasm|malignant gastrointestinal neoplasm|malignant gastrointestinal system neoplasm|gastrointestinal system cancer|malignant neoplasm of digestive system|cancer of digestive system|gastrointestinal tract cancer|digestive system cancer|GI tumor ICD10:C26.9|NCIT:C3052|DOID:3119|NCIT:C4890|ICD10:C15.C26|MESH:D005770|ICD9:239.0 owl:Class MONDO:0021091 biolink:NamedThing papillary cystadenoma A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures. tmpaxzxjjyw_mondo_relaxed.owl papillary cystadenoma|cystadenoma, papillary, benign NCIT:C2974|UMLS:C0010636|ICDO:8450/0|MESH:D018292 owl:Class MONDO:0034041 biolink:NamedThing congenital axonal neuropathy with encephalopathy A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:538101 owl:Class MONDO:0021576 biolink:NamedThing fallopian tube endometrioid tumor A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. tmpaxzxjjyw_mondo_relaxed.owl endometrium neoplasm of fallopian tube|fallopian tube endometrioid tumor|fallopian tube endometrium neoplasm|fallopian tube endometrioid neoplasm NCIT:C40111|UMLS:C1517113 owl:Class MONDO:0021092 biolink:NamedThing fallopian tube neoplasm A benign or malignant neoplasm affecting the fallopian tube. Representative examples of benign neoplasms include papilloma, adenofibroma, and leiomyoma. Representative examples of malignant neoplasms include carcinoma, carcinosarcoma, and adenosarcoma. tmpaxzxjjyw_mondo_relaxed.owl tumor of the fallopian tube|neoplasm of fallopian tube|tumor of fallopian tube|fallopian tube neoplasm|fallopian tube neoplasm (disease)|fallopian tube tumor|neoplasm of the fallopian tube UMLS:C0015558|ICD9:239.5|SCTID:126916003|NCIT:C3032 owl:Class MONDO:0018600 biolink:NamedThing congenital abducens nerve palsy tmpaxzxjjyw_mondo_relaxed.owl benign congenital sixth cranial nerve palsy|congenital CNVI palsy ICD10:Q07.8|Orphanet:440233 owl:Class UBERON:0001143 biolink:NamedThing hepatic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015796 biolink:NamedThing liver blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021539 biolink:NamedThing hamartoma of skin appendage A hamartoma (disease) that involves the cutaneous appendage. tmpaxzxjjyw_mondo_relaxed.owl skin appendage hamartoma|cutaneous appendage hamartoma (disease) UMLS:C1302712|SCTID:399906000|ICD9:759.6|NCIT:C5562 owl:Class NCBITaxon:32008 biolink:NamedThing Burkholderia tmpaxzxjjyw_mondo_relaxed.owl Pseudomonas RNA homology group II PMID:1283774|GC_ID:11|PMID:25566316|PMID:10555347 ncbi_taxonomy owl:Class NCBITaxon:119060 biolink:NamedThing Burkholderiaceae tmpaxzxjjyw_mondo_relaxed.owl Burkholderia group GC_ID:11|PMID:16403855 NCBITaxon:119063 ncbi_taxonomy owl:Class MONDO:0019448 biolink:NamedThing benign adult familial myoclonic epilepsy Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. tmpaxzxjjyw_mondo_relaxed.owl FCMTE|autosomal dominant cortical myoclonus and epilepsy|benign adult familial myoclonus epilepsy|FAME|familial cortical myoclonic tremor and epilepsy|familial adult myoclonic epilepsy|BAFME|ADCME SCTID:717225001|OMIM:615127|ICD10:G40.3|UMLS:C4273988|UMLS:CN206220|OMIM:615400|OMIM:607876|OMIM:601068|Orphanet:86814|DOID:0111689|OMIM:613608 owl:Class MONDO:0021811 biolink:NamedThing acute mountain sickness Acute mountain sickness is characterized by altitude sickness that affects otherwise healthy persons, develops within hours after arriving at altitude, and results in functional impairment from symptoms that may include headache, anorexia, nausea, vomiting, dizziness, fatigue, and sleep disturbances. tmpaxzxjjyw_mondo_relaxed.owl soroche|high altitude cerebral edema|acute mountain sickness|altitude anoxia|altitude sickness|acosta's disease|high altitude pulmonary edema|Mountain sickness SCTID:78590007|UMLS:C0238284|GARD:0005730|ICD9:993.2 https://rarediseases.info.nih.gov/diseases/5730/acute-mountain-sickness owl:Class MONDO:0006625 biolink:NamedThing altitude sickness Multiple symptoms associated with reduced oxygen at high altitude. tmpaxzxjjyw_mondo_relaxed.owl ICD10:T70.2|EFO:1000782|MESH:D000532|Wikipedia:Altitude_sickness owl:Class CL:0000005 biolink:NamedThing fibroblast neural crest derived Any fibroblast that is deriived from the neural crest. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0000057 biolink:NamedThing fibroblast A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped. tmpaxzxjjyw_mondo_relaxed.owl VHOG:0001482|FMA:63877|BTO:0000452|CALOHA:TS-0362 These cells may be vimentin-positive, fibronectin-positive, fsp1-positive, MMP-1-positive, collagen I-positive, collagen III-positive, and alpha-SMA-negative. cell owl:Class MONDO:0023258 biolink:NamedThing glycogen storage disease type 1 due to SLC37A4 mutation Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene. tmpaxzxjjyw_mondo_relaxed.owl G6P translocase deficiency|glycogen storage disease I caused by mutation in SLC37A4|glucose-6-phosphate translocase deficiency|SLC37A4 glycogen storage disease I UMLS:C2931345|MESH:C536831|HGNC:4061|GARD:0002501 This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency owl:Class MONDO:0021068 biolink:NamedThing ovarian neoplasm A benign, borderline, or malignant neoplasm involving the ovary. tmpaxzxjjyw_mondo_relaxed.owl tumor of ovary|neoplasm of the ovary|ovarian tumors|ovary tumor|ovary neoplasm|ovarian tumor|tumor of the ovary|ovary neoplasm (disease)|neoplasm of ovary|ovarian neoplasm UMLS:CN236629|NCIT:C4984|ICD9:239.5|SCTID:123843001 owl:Class MONDO:0006550 biolink:NamedThing fibroepithelial polyp of urethra A benign polypoid lesion of mesodermal origin that arises from the urethra. tmpaxzxjjyw_mondo_relaxed.owl urethra fibroepithelial polyp|fibroepithelial polyp of the urethra|urethral fibroepithelial polyp|skin tag of urethra|fibroepithelial polyp of urethra|urethra skin tag NCIT:C6170|UMLS:C1336884|DOID:8108|EFO:1000700 owl:Class UBERON:0002465 biolink:NamedThing lymphoid system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008907 biolink:NamedThing dermal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013254 biolink:NamedThing microcephaly, seizures, and developmental delay tmpaxzxjjyw_mondo_relaxed.owl MCSZ|early infantile epileptic encephalopathy-10|microcephaly, seizures, and developmental delay|epileptic encephalopathy, early infantile, 10|EIEE10|microcephaly - seizures - developmental delay OMIM:613402|UMLS:C3150667|GARD:0010933|Orphanet:228418|DOID:0080457 https://rarediseases.info.nih.gov/diseases/10933/microcephaly-seizures-and-developmental-delay owl:Class MONDO:0001149 biolink:NamedThing microcephaly A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. tmpaxzxjjyw_mondo_relaxed.owl microcephaly (disease)|microencephaly|microcephaly|microcephalus microcephaly (disease) OMIM:612703|OMIM:604804|NCIT:C85874|OMIM:608716|OMIM:604321|OMIM:251200|OMIM:608393|SCTID:1829003|HP:0000252|GARD:0003603|ICD9:742.1|ICD10:Q02|DOID:10907 owl:Class GO:1900118 biolink:NamedThing negative regulation of execution phase of apoptosis Any process that stops, prevents or reduces the frequency, rate or extent of execution phase of apoptosis. tmpaxzxjjyw_mondo_relaxed.owl inhibition of execution phase of apoptosis|down-regulation of execution phase of apoptosis|down regulation of execution phase of apoptosis|downregulation of execution phase of apoptosis owl:Class ENVO:01001477 biolink:NamedThing liquid astronomical body part A part of an astronomical body which is primarily composed of a continuous volume of liquid material, shaped by one or more environmental processes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001479 biolink:NamedThing fluid astronomical body part A part of an astronomical body which is primarily composed of a continuous volume of liquid or gaseous material, shaped by one or more environmental processes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:30587 biolink:NamedThing SNIP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001224 biolink:NamedThing Angelucci syndrome Atopic conjunctivitis that is of relatively short duration and that has a rapid onset. tmpaxzxjjyw_mondo_relaxed.owl Angelucci syndrome|acute atopic conjunctivitis|Angelucci's syndrome ICD9:372.05|DOID:11203|NCIT:C34353|UMLS:C0001309|SCTID:67678004|ICD10:H10.1 owl:Class MONDO:0005642 biolink:NamedThing atopic conjunctivitis Conjunctivitis due to hypersensitivity to various allergens. tmpaxzxjjyw_mondo_relaxed.owl allergic form of conjunctivitis (disease)|Atopic conjunctivitis|allergic conjunctivitis|allergic conjunctivitis (disease) NCIT:C34506|UMLS:C0009766|SCTID:473460002|DOID:11204|HP:0007879|ICD9:372.14|EFO:0007141 owl:Class CHEBI:24834 biolink:NamedThing inorganic anion tmpaxzxjjyw_mondo_relaxed.owl inorganic anions owl:Class GO:0051937 biolink:NamedThing catecholamine transport The directed movement of catecholamines, a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016377 biolink:NamedThing Pitt-Hopkins-like syndrome Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated. tmpaxzxjjyw_mondo_relaxed.owl PTHSL Orphanet:221150|GARD:0011967|UMLS:CN239445|OMIM:614325|OMIM:610042 https://rarediseases.info.nih.gov/diseases/11967/pitt-hopkins-like-syndrome owl:Class HP:0010932 biolink:NamedThing Abnormal circulating nucleobase concentration An abnormality of a nucleobase metabolic process. tmpaxzxjjyw_mondo_relaxed.owl Abnormal nucleoside levels UMLS:C4020762|UMLS:C4023643 This term is used to refers to abnormality in chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. peter 2011-01-06T10:46:17Z human_phenotype owl:Class HP:0004364 biolink:NamedThing Abnormal circulating nitrogen compound concentration Any deviation from the normal concentration of a nitrogen compound in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025336 Ammonia (NH3), one of the most clinically important nitrogen compounds in human metabolism, is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine. peter 2008-03-17T04:51:00Z human_phenotype owl:Class GO:0015980 biolink:NamedThing energy derivation by oxidation of organic compounds The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. tmpaxzxjjyw_mondo_relaxed.owl chemoorganotrophy owl:Class GO:0006091 biolink:NamedThing generation of precursor metabolites and energy The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. tmpaxzxjjyw_mondo_relaxed.owl energy pathways|metabolic energy generation|intermediary metabolism owl:Class CHEBI:32876 biolink:NamedThing tertiary amine A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups. tmpaxzxjjyw_mondo_relaxed.owl Tertiary amine|tertiary amines|tertiaeres Amin|R3N owl:Class CHEBI:32952 biolink:NamedThing amine A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups. tmpaxzxjjyw_mondo_relaxed.owl Amin|Amine|amines|Substituted amine owl:Class MONDO:0009565 biolink:NamedThing microcephaly-glomerulonephritis-marfanoid habitus syndrome This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis. tmpaxzxjjyw_mondo_relaxed.owl MARFANOID habitus with microcephaly and glomerulonephritis|microcephaly glomerulonephritis Marfanoid habitus GARD:0003615|UMLS:C1855348|ICD10:Q87.8|Orphanet:2172|OMIM:248760|MESH:C565411 https://rarediseases.info.nih.gov/diseases/3615/microcephaly-glomerulonephritis-marfanoid-habitus owl:Class GO:0090283 biolink:NamedThing regulation of protein glycosylation in Golgi Any process that modulates the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. tmpaxzxjjyw_mondo_relaxed.owl regulation of protein amino acid glycosylation in Golgi owl:Class MONDO:0005236 biolink:NamedThing xanthoma A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. tmpaxzxjjyw_mondo_relaxed.owl xanthoma (disease)|xanthoma xanthoma (disease) NCIT:C4071|EFO:0003075|HP:0001114 owl:Class MONDO:0033200 biolink:NamedThing hearing loss, autosomal recessive 108 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 108|DFNB108|autosomal recessive nonsyndromic deafness 108 DOID:0080263|Orphanet:90636|OMIM:617654 owl:Class MONDO:0016264 biolink:NamedThing autoimmune hepatitis Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma. tmpaxzxjjyw_mondo_relaxed.owl chronic autoimmune hepatitis|autoimmune hepatitis|autoimmune chronic active hepatitis|autoimmune hepatitis with centrilobular necrosis|AIH|autoimmune liver disease|autoimmune chronic hepatitis MedDRA:10003827|ICD9:571.42|UMLS:C0241910|NCIT:C27029|UMLS:C1332355|MESH:D019693|DOID:2048|OMIM:109100|EFO:0005676|ICD10:K75.4|GARD:0005871|Orphanet:2137|SCTID:197284004|SCTID:408335007 owl:Class MONDO:0002251 biolink:NamedThing hepatitis An active inflammatory process affecting the liver for more than six months. Causes include viral infections, autoimmune disorders, drugs, and metabolic disorders. tmpaxzxjjyw_mondo_relaxed.owl Hepatitides|animal hepatitis|acute/subac. necrosis of liver|Hepatitis|inflammation of liver|acute and subacute liver necrosis|hepatitis|acute hepatitis|liver inflammation|chronic hepatitis|chronic persistent hepatitis ICD9:571.41|NCIT:C3095|MESH:D006505|ICD9:571.40|DOID:2237|ICD9:570|SCTID:197268000|EFO:0008496|ICD10:K73.9|ICD9:571.4 owl:Class UBERON:4300227 biolink:NamedThing hindlimb bud mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010328 biolink:NamedThing limb bud mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002807 biolink:NamedThing bronchial neoplasm Tumors or cancer of the bronchi. tmpaxzxjjyw_mondo_relaxed.owl bronchus neoplasm|bronchus neoplasm (disease)|neoplasm of bronchus|bronchial neoplasm (disease)|bronchial neoplasm|tumor of bronchus|bronchus tumor bronchial neoplasm (disease) HP:0030077|UMLS:C0006264|MESH:D001984|EFO:1000849|DOID:3906|SCTID:126705004 owl:Class MONDO:0004193 biolink:NamedThing pediatric ovarian dysgerminoma A dysgerminoma that arises from the ovary and occurs in children. tmpaxzxjjyw_mondo_relaxed.owl childhood ovarian dysgerminoma|childhood dysgerminoma|pediatric dysgerminoma of ovary|childhood ovarian germinomatous germ cell tumor|dysgerminoma of ovary of childhood|childhood dysgerminoma of ovary NCIT:C6550|DOID:7340|UMLS:C1332988 owl:Class MONDO:0004479 biolink:NamedThing malignant childhood germ cell neoplasm A malignant germ cell tumor that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl malignant childhood germ cell neoplasm|malignant pediatric germ cell neoplasm|malignant childhood germ cell tumor|malignant pediatric germ cell tumor DOID:8149|NCIT:C6541|UMLS:C1334574 owl:Class UBERON:0014891 biolink:NamedThing brainstem white matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013131 biolink:NamedThing polycystic kidney disease 2 Autosomal dominant polycystic kidney disease caused by a mutation in PKD2. tmpaxzxjjyw_mondo_relaxed.owl PKD2|Autosomal dominant polycystic kidney disease type 2|APKD2|polycystic kidney disease, adult, type II|polycystic kidney disease 2|polycystic kidney disease type 2|PKD2 autosomal dominant polycystic kidney disease|polycystic kidney disease, adult, type 2|autosomal dominant polycystic kidney disease caused by mutation in PKD2|polycystic kidney disease 2 with or without polycystic liver disease NCIT:C123166|DOID:0110859|SCTID:253879006|OMIM:613095|Orphanet:730|UMLS:C2751306 owl:Class MONDO:0004691 biolink:NamedThing autosomal dominant polycystic kidney disease Autosomal dominant form of polycystic kidney disease. tmpaxzxjjyw_mondo_relaxed.owl ADPKD|congenital biliary ectasias|autosomal dominant polycystic kidney disease|polycystic kidney disease, autosomal dominant ICD9:753.13|DOID:898|Orphanet:730|SCTID:765330003|NCIT:C84578|ICD9:753.12|UMLS:C0085413|GARD:0010413|EFO:1001496|MESH:D016891|ICD10:Q61.3|UMLS:CN119611 owl:Class HGNC:11919 biolink:NamedThing CD40 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015085 biolink:NamedThing calcium ion transmembrane transporter activity Enables the transfer of calcium (Ca) ions from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002776 biolink:NamedThing antimicrobial peptide secretion The regulated release of an antimicrobial peptide from a cell or a tissue. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018133 biolink:NamedThing attenuated Chédiak-Higashi syndrome Attenuated Chédiak-Higashi syndrome (CHS) is a very rare and atypical form of CHS, a genetic disorder characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. tmpaxzxjjyw_mondo_relaxed.owl atypical Chédiak-Higashi syndrome|atypical Chediak-Higashi syndrome|attenuated Chediak-Higashi syndrome ICD10:E70.3|UMLS:CN204519|Orphanet:352723|UMLS:C4304022|SCTID:720520009 owl:Class MONDO:0008228 biolink:NamedThing pernicious anemia Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells. tmpaxzxjjyw_mondo_relaxed.owl Addison-Biermer anemia|Biermer disease|anemia pernicious|Addison's anaemia|Biermer anemia|acquired pernicious anemia|juvenile onset pernicious anemia|Addison anaemia|Biermer's anemia|pernicious anemia|intrinsic factor deficiency DOID:13381|NCIT:C2871|MESH:D000752|ICD10:D51.0|OMIM:170900|UMLS:C0002892|EFO:0005576|SCTID:84027009|Orphanet:120|GARD:0012671|ICD9:281.0 owl:Class GO:0061179 biolink:NamedThing negative regulation of insulin secretion involved in cellular response to glucose stimulus Any process that decreases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of insulin secretion in response to glucose|negative regulation of insulin secretion involved in cellular response to glucose owl:Class MONDO:0042956 biolink:NamedThing Saal-Bulas syndrome tmpaxzxjjyw_mondo_relaxed.owl Saal Bulas syndrome|ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum GARD:0000311|MESH:C537193|UMLS:C2931439 owl:Class MONDO:0034024 biolink:NamedThing kyphoscoliotic Ehlers-Danlos syndrome A rare systemic disease for which two subtypes exist, either related to the gene PLOD1 or FKBP22, and for which the clinically overlapping characteristics include congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional features which may occur in both subtypes are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Gene-specific features, with variable presentation, are additionally observed in each subtype. tmpaxzxjjyw_mondo_relaxed.owl EDS VI|kyphoscoliotic EDS Orphanet:536545 owl:Class HGNC:18187 biolink:NamedThing SIAE tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045840 biolink:NamedThing positive regulation of mitotic nuclear division Any process that activates or increases the frequency, rate or extent of mitosis. tmpaxzxjjyw_mondo_relaxed.owl stimulation of mitosis|up-regulation of mitosis|upregulation of mitosis|mitogenic activity|activation of mitosis|up regulation of mitosis|positive regulation of mitosis owl:Class MONDO:0043168 biolink:NamedThing panostotic fibrous dysplasia tmpaxzxjjyw_mondo_relaxed.owl unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia UMLS:C2931430|GARD:0004213|MESH:C537164|OMIM:174800 owl:Class MONDO:0000845 biolink:NamedThing fibrous dysplasia A genetic, non-inheritable disorder caused by osteoblastic differentiation defects that result in the replacement of bone marrow and trabecular bone by fibrous stroma and immature bone. It usually affects a single bone and less frequently multiple bones. Skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures. tmpaxzxjjyw_mondo_relaxed.owl fibrous dysplasia of bone MedDRA:10016664|MESH:D005357|DOID:0080031|Orphanet:249|NCIT:C34609|SCTID:10623005|GARD:0006444|ICD9:733.29|SCTID:254145001|ICD10:Q78.1 owl:Class HGNC:465 biolink:NamedThing AMHR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046395 biolink:NamedThing carboxylic acid catabolic process The chemical reactions and pathways resulting in the breakdown of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups. tmpaxzxjjyw_mondo_relaxed.owl carboxylic acid breakdown|carboxylic acid catabolism|carboxylic acid degradation owl:Class GO:0019752 biolink:NamedThing carboxylic acid metabolic process The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). tmpaxzxjjyw_mondo_relaxed.owl carboxylic acid metabolism owl:Class HGNC:3331 biolink:NamedThing EMD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012587 biolink:NamedThing hypertension, essential, susceptibility to, 7 tmpaxzxjjyw_mondo_relaxed.owl hypertension, essential, susceptibility to, 7|hypertension, essential, susceptibility to, type 7|Hyt7 OMIM:610948 owl:Class HGNC:15925 biolink:NamedThing SAMHD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000846 biolink:NamedThing water ice crystal A crystal which is primarily composed of water ice. tmpaxzxjjyw_mondo_relaxed.owl ice crystal owl:Class ENVO:00000131 biolink:NamedThing glacial feature A hydrographic feature characterized by the dominance of snow or ice. tmpaxzxjjyw_mondo_relaxed.owl LandIce|glacier feature|Ice|glacer|glacial landform owl:Class UBERON:0000959 biolink:NamedThing optic chiasma tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007418 biolink:NamedThing neural decussation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003343 biolink:NamedThing retinal hemangioblastoma A hemangioblastoma that arises from the retina. It is typically a sign of von Hippel-Lindau disease. It may also be seen as an isolated entity without systemic involvement. tmpaxzxjjyw_mondo_relaxed.owl retinal capillary hemangioblastoma|retinal hemangioblastoma|hemangioblastoma of vasculature of retina|vasculature of retina hemangioblastoma NCIT:C39783|DOID:5240|UMLS:C1514915 owl:Class MONDO:0021541 biolink:NamedThing hemangioma of retina A hemangioma that involves the retina. tmpaxzxjjyw_mondo_relaxed.owl angioma of the retina|retinal angioma|hemangioma of the retina|retina angioma|retinal hemangioma|angioma of retina|retina hemangioma ICD9:228.03|SCTID:93470007|UMLS:C0154051|NCIT:C3634 owl:Class GO:0045982 biolink:NamedThing negative regulation of purine nucleobase metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving purine nucleobases. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of purine base metabolic process|downregulation of purine base metabolic process|negative regulation of purine base metabolism|down-regulation of purine base metabolic process|down regulation of purine base metabolic process|inhibition of purine base metabolic process owl:Class GO:0045667 biolink:NamedThing regulation of osteoblast differentiation Any process that modulates the frequency, rate or extent of osteoblast differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000606 biolink:NamedThing kidney nerve cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001015 cell owl:Class CL:0000540 biolink:NamedThing neuron The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. tmpaxzxjjyw_mondo_relaxed.owl nerve cell FBbt:00005106|BTO:0000938|VHOG:0001483|FMA:54527|WBbt:0003679|CALOHA:TS-0683 These cells are also reportedly CD4-negative and CD200-positive. They are also capable of producing CD40L and IFN-gamma. cell owl:Class UBERON:0004114 biolink:NamedThing tympanic cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010064 biolink:NamedThing open anatomical space tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021121 biolink:NamedThing hemangioendothelioma A vascular proliferation characterized by the presence of prominent endothelial cells and the formation of vascular channels. Hemangioendotheliomas may display borderline or low grade characteristics. tmpaxzxjjyw_mondo_relaxed.owl hemangioendothelioma|angioendothelioma SCTID:403980002|ICDO:9130/1|GARD:0006557|UMLS:C0018915|NCIT:C3084|MESH:D006390 https://rarediseases.info.nih.gov/diseases/6557/hemangioendothelioma owl:Class MONDO:0019840 biolink:NamedThing acropectororenal dysplasia Acro-pectoro-renal field defect is a very rare association of a Poland anomaly, that is characterized by unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal head) and a variable degree of ipsilateral hand anomalies (including symbrachydactyly, brachydactyly, absent thumb and hypoplastic fingers), combined with a genito-urinary anomaly. Associated genito-urinary anomalies reported include renal hypoplasia or agenesis, duplex collecting system, ureteropelvic junction obstruction, hypospadias and undescended testicles. tmpaxzxjjyw_mondo_relaxed.owl acro-pectoro-renal field defect|brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys Orphanet:956|GARD:0000511|SCTID:720413004|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/511/acro-pectoro-renal-field-defect owl:Class MONDO:0015856 biolink:NamedThing syndromic breast hypoplasia/aplasia tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226755|Orphanet:180193 owl:Class MONDO:0005558 biolink:NamedThing ovarian disorder A disease involving the ovary. tmpaxzxjjyw_mondo_relaxed.owl ovarian disease|ovarian disorder|disease or disorder of ovary|disease of ovary|disorder of ovary|ovary disease|ovary disease or disorder UMLS:C0029928|NCIT:C26841|SCTID:5552004|DOID:1100|EFO:0005771|MESH:D010049 owl:Class CL:1000495 biolink:NamedThing small intestine goblet cell A goblet cell that is part of the small intestine. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of epithelium of small intestine|goblet cell of small intestine|small intestinal goblet cell FMA:86929 cell owl:Class CL:1001598 biolink:NamedThing small intestine glandular cell A glandular cell found in the epithelium of the small intestine. Example: Enterocytes, Goblet cells, enteroendocrine cells; Paneth cells; M cells; Somatostatin-secreting Cells (D-cells) . tmpaxzxjjyw_mondo_relaxed.owl small intestine glandular cells|small bowel glandular cell|small intestinal glandular cell FMA:86928|CALOHA:TS-1286 owl:Class MONDO:0010323 biolink:NamedThing Atkin-Flaitz syndrome Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked. tmpaxzxjjyw_mondo_relaxed.owl X-linked intellectual disability, Atkin type|Atkin-Flaitz syndrome|Atkin syndrome OMIM:300431|GARD:0003537|SCTID:718577005|ICD10:Q87.8|Orphanet:1193 owl:Class GO:2001198 biolink:NamedThing regulation of dendritic cell differentiation Any process that modulates the frequency, rate or extent of dendritic cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1902105 biolink:NamedThing regulation of leukocyte differentiation Any process that modulates the frequency, rate or extent of leukocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl regulation of immune cell differentiation|regulation of leucocyte differentiation owl:Class MONDO:0022397 biolink:NamedThing retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156168 owl:Class UBERON:0009505 biolink:NamedThing mesenchyme of trachea tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4331 biolink:NamedThing GLS tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032769 biolink:NamedThing negative regulation of monooxygenase activity Any process that stops or reduces the activity of a monooxygenase. tmpaxzxjjyw_mondo_relaxed.owl downregulation of monooxygenase activity|down regulation of monooxygenase activity|inhibition of monooxygenase activity|down-regulation of monooxygenase activity owl:Class MONDO:0019525 biolink:NamedThing tetrasomy X Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). tmpaxzxjjyw_mondo_relaxed.owl 48 XXXX|quadruple X|48 XXXX syndrome|48,XXXX syndrome|tetrasomy type X|tetra X SCTID:10567003|GARD:0007754|MESH:C536502|ICD9:758.81|ICD10:Q97.1|Orphanet:9|UMLS:C0265496 https://rarediseases.info.nih.gov/diseases/7754/tetrasomy-x owl:Class MONDO:0008238 biolink:NamedThing phosphatase, acid, of tissues tmpaxzxjjyw_mondo_relaxed.owl lysosomal acid phosphatase|phosphatase, acid, of tissues|Acp3--Alpha polypeptide OMIM:171660 owl:Class MONDO:0013353 biolink:NamedThing intellectual disability, anterior maxillary protrusion, and strabismus tmpaxzxjjyw_mondo_relaxed.owl mental retardation, anterior maxillary protrusion, and strabismus|MRAMS|intellectual disability, anterior maxillary protrusion, and strabismus UMLS:C3150924|OMIM:613671|Orphanet:562559 owl:Class MONDO:0040671 biolink:NamedThing class V glucose-6-phosphate dehydrogenase deficiency tmpaxzxjjyw_mondo_relaxed.owl favism|glucose-6-phosphate dehydrogenase deficiency class V variant anemia|G6PD class V variant anemia|G6PD deficiency UMLS:C0272060|Orphanet:362|SCTID:80963002 Editor note: TODO, see PMID:2633878 owl:Class MONDO:0005775 biolink:NamedThing G6PD deficiency An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs. tmpaxzxjjyw_mondo_relaxed.owl inborn error of glucose-6-phosphate dehydrogenase activity|deficiency of G-6PD|rare inborn error of glucose-6-phosphate dehydrogenase activity|glucosephosphate dehydrogenase deficiency|G6PD|G6PD deficiency|G-6-PD variant enzyme deficiency Anemia|inborn glucose-6-phosphate dehydrogenase activity disorder|glucose-6-phosphate dehydrogenase deficiency MESH:D005955|SCTID:62403005|EFO:0007287|NCIT:C98933|DOID:2862|UMLS:C2939465 owl:Class MONDO:0021375 biolink:NamedThing tumor of duodenum A neoplasm (disease) that involves the duodenum. tmpaxzxjjyw_mondo_relaxed.owl tumor of the duodenum|neoplasm of the duodenum|duodenal neoplasm|duodenum tumor|duodenum neoplasm|tumor of duodenum|neoplasm of duodenum|duodenal tumor|duodenum neoplasm (disease) SCTID:126833009|NCIT:C2995 owl:Class GO:0042423 biolink:NamedThing catecholamine biosynthetic process The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpaxzxjjyw_mondo_relaxed.owl catecholamine anabolism|catecholamine biosynthesis|catecholamine synthesis|catecholamine formation owl:Class GO:0042401 biolink:NamedThing cellular biogenic amine biosynthetic process The chemical reactions and pathways occurring at the level of individual cells resulting in the formation of any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. tmpaxzxjjyw_mondo_relaxed.owl biogenic amine synthesis|biogenic amine formation|biogenic amine biosynthesis|biogenic amine anabolism owl:Class GO:0002684 biolink:NamedThing positive regulation of immune system process Any process that activates or increases the frequency, rate, or extent of an immune system process. tmpaxzxjjyw_mondo_relaxed.owl activation of immune system process|up regulation of immune system process|up-regulation of immune system process|stimulation of immune system process|upregulation of immune system process owl:Class GO:0010955 biolink:NamedThing negative regulation of protein processing Any process that decreases the rate, frequency or extent of protein maturation by peptide bond cleavage. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of protein maturation by peptide bond cleavage owl:Class GO:1903318 biolink:NamedThing negative regulation of protein maturation Any process that stops, prevents or reduces the frequency, rate or extent of protein maturation. tmpaxzxjjyw_mondo_relaxed.owl inhibition of protein maturation|downregulation of protein maturation|down-regulation of protein maturation|down regulation of protein maturation owl:Class MONDO:0017598 biolink:NamedThing primary cutaneous anaplastic large cell lymphoma Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis with which it shares overlapping clinical and histopathologic features. tmpaxzxjjyw_mondo_relaxed.owl C-ALCL|primary anaplastic large cell lymphoma of the skin|primary cutaneous CD30+ anaplastic large cell lymphoma|primary C-ALCL|primary anaplastic large cell lymphoma of skin|ALCL, cutaneous|regressive atypical histiocytosis|anaplastic large-cell lymphoma, primary cutaneous type|primary cutaneous CD30+ ALCL|primary cutaneous CD30 Positive anaplastic large cell lymphoma MESH:D054446|Orphanet:300865|MedDRA:10065863|UMLS:C1301362|ICD10:C86.6|ONCOTREE:PCALCL|NCIT:C6860 owl:Class MONDO:0030849 biolink:NamedThing intellectual developmental disorder with speech delay and axonal peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl IDDSAPN OMIM:619099 owl:Class MONDO:0031011 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies and variable seizures tmpaxzxjjyw_mondo_relaxed.owl NEDDFAS OMIM:619264 owl:Class UBERON:0036150 biolink:NamedThing skin appendage follicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000063 biolink:NamedThing organ subunit tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004700 biolink:NamedThing arterial system endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004852 biolink:NamedThing cardiovascular system endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003630 biolink:NamedThing pancreatic serous cystadenocarcinoma A metastasizing, slow-growing malignant epithelial neoplasm that arises from the exocrine pancreas. It is characterized by the presence of cysts and is composed of glycogen-rich malignant epithelial cells which produce a watery fluid. Signs and symptoms include upper gastrointestinal bleeding, weight loss, jaundice, and abdominal pain. tmpaxzxjjyw_mondo_relaxed.owl serous cystadenocarcinoma of the pancreas|serous cystadenocarcinoma of pancreas|pancreatic serous cystadenocarcinoma|pancreas serous adenocarcinoma ICD10:C25.8|ICD10:C25.2|Orphanet:424073|ICD10:C25.1|NCIT:C5724|ICD10:C25.7|DOID:5751|ICD10:C25.0|UMLS:C1335315 owl:Class MONDO:0019803 biolink:NamedThing angioma serpiginosum Angioma serpiginosum (AS) is a benign congenital skin disease characterised by progressive dilation of the subepidermal skin vessels manifesting as purple punctate lesions usually appearing on the lower limbs and buttocks and following the lines of Blaschko. tmpaxzxjjyw_mondo_relaxed.owl angioma serpiginosum of skin SCTID:49465005|OMIM:106050|OMIM:300652|DOID:4028|Orphanet:95429|MESH:C536366|UMLS:CN206759|ICD10:L81.7|NCIT:C3926 owl:Class MONDO:0016231 biolink:NamedThing capillary malformation tmpaxzxjjyw_mondo_relaxed.owl rare capillary malformation|congenital malformation of capillary SCTID:234118009|Orphanet:211247 owl:Class MONDO:0002397 biolink:NamedThing liver sarcoma A malignant soft tissue neoplasm that arises from the liver. Representative examples include angiosarcoma, undifferentiated (embryonal) sarcoma, rhabdomyosarcoma, and leiomyosarcoma. tmpaxzxjjyw_mondo_relaxed.owl hepatic sarcoma|sarcoma of liver|sarcoma of the liver|liver sarcoma SCTID:254601002|DOID:270|UMLS:C0345906|NCIT:C4437 owl:Class OBO:CHR_9606-chr14q11 biolink:NamedThing 14q11 (Human) tmpaxzxjjyw_mondo_relaxed.owl 24100000 17200000 hg38 owl:Class MONDO:0014772 biolink:NamedThing orofacial cleft 15 Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene. tmpaxzxjjyw_mondo_relaxed.owl DLX4 cleft lip/palate|OFC15|orofacial cleft 15|cleft lip/palate caused by mutation in DLX4|orofacial cleft type 15 OMIM:616788|DOID:0080408 owl:Class MONDO:0016044 biolink:NamedThing cleft lip/palate Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate. tmpaxzxjjyw_mondo_relaxed.owl cleft lip-alveolus-palate syndrome|cleft lip and palate|FLP|alveolar cleft lip and palate ICD10:Q37.3|OMIM:608874|OMIM:119530|OMIM:602966|ICD10:Q37.9|ICD9:749.20|OMIM:613705|OMIM:612858|ICD10:Q37.8|OMIM:129400|ICD10:Q37.5|OMIM:608371|OMIM:608864|OMIM:225060|SCTID:66948001|OMIM:600625|ICD10:Q37.2|ICD9:749.25|OMIM:600757|ICD10:Q37.1|OMIM:610361|ICD10:Q37.0|OMIM:616788|ICD10:Q37.4|Orphanet:199306|MedDRA:10009260 owl:Class MONDO:0009595 biolink:NamedThing cartilage-hair hypoplasia Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth. tmpaxzxjjyw_mondo_relaxed.owl metaphyseal chondrodysplasia, Mckusick type|autosomal recessive metaphyseal chondrodysplasia|CHH|cartilage hair hypoplasia|cartilage-hair hypoplasia|metaphyseal chondrodysplasia McKusick type|metaphyseal chondrodysplasia, McKusick type|McKusick type metaphyseal chondrodysplasia|cartilage hair hypoplasia like syndrome OMIM:250250|MedDRA:10069596|NCIT:C61245|GARD:0006996|ICD10:Q78.8|UMLS:C0220748|Orphanet:175|DOID:14773|OMIM:250460|SCTID:7720002|MESH:C535916 https://rarediseases.info.nih.gov/diseases/6996/cartilage-hair-hypoplasia owl:Class MONDO:0015708 biolink:NamedThing immuno-osseous dysplasia tmpaxzxjjyw_mondo_relaxed.owl SCTID:254067002|Orphanet:169349 owl:Class MONDO:0023059 biolink:NamedThing Elliott ludman Teebi syndrome tmpaxzxjjyw_mondo_relaxed.owl multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs UMLS:C2931128|GARD:0000189|MESH:C536204 https://rarediseases.info.nih.gov/diseases/189/elliott-ludman-teebi-syndrome owl:Class UBERON:0001293 biolink:NamedThing outer medulla of kidney tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008310 biolink:NamedThing nasopharyngeal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010702 biolink:NamedThing digit mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:28956 biolink:NamedThing GPD1L tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000211 biolink:NamedThing electrically active cell A cell whose function is determined by the generation or the reception of an electric signal. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0015264 biolink:NamedThing cryptogenic organizing pneumonia Cryptogenic organizing pneumonia (COP) is a form of idiopathic interstitial pneumonia characterized pathologically by organizing pneumonia (OP) that presents with non-specific flu-like symptoms, as well as cough and dyspnea and where no etiological agent is found. tmpaxzxjjyw_mondo_relaxed.owl idiopathic bronchiolitis obliterans organizing pneumonia|idiopathic BOOP|bronchiolitis obliterans organizing pneumonia|COP|idiopathic bronchiolitis obliterans with organizing pneumonia|cryptogenic organizing pneumonitis GARD:0001620|UMLS:C0242770|ICD9:516.36|ICD10:J84.116|ICD10:J84.1|DOID:0050157|NCIT:C62586|SCTID:719218000|Orphanet:1302|EFO:1001300|MESH:D018549 owl:Class MONDO:0006974 biolink:NamedThing small cell sarcoma A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl small cell sarcoma|small cell sarcomas EFO:1001184|MESH:D018228|DOID:3098|NCIT:C3746|ICDO:8803/3|UMLS:C0206652 owl:Class MONDO:0018108 biolink:NamedThing idiopathic disseminated cytomegalovirus infection tmpaxzxjjyw_mondo_relaxed.owl idiopathic disseminated CMV infection UMLS:CN204469|Orphanet:35062|ICD10:B25.8 owl:Class MONDO:0005132 biolink:NamedThing cytomegalovirus infection A herpesvirus infection caused by Cytomegalovirus. Healthy individuals generally do not produce symptoms. However, the infection may be life-threatening in affected immunocompromised patients. The virus may cause retinitis, esophagitis, gastritis, and colitis. Morphologically, it is characterized by the presence of intranuclear inclusion bodies. tmpaxzxjjyw_mondo_relaxed.owl CMV infection|HCMV infection|Cytomegaloviral infection NCIT:C112314|MESH:D003586|NCIT:C53649|ICD9:078.5|UMLS:C0010823|EFO:0001062|SCTID:28944009 owl:Class MONDO:0030907 biolink:NamedThing intellectual disability, X-linked 106 tmpaxzxjjyw_mondo_relaxed.owl X-linked intellectual disability 106|intellectual disability, X-linked 106|X-linked mental retardation 106|MRX106|mental retardation, X-linked 106 DOID:0080240|OMIM:300997 owl:Class HP:0010522 biolink:NamedThing Dyslexia A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). tmpaxzxjjyw_mondo_relaxed.owl Reading disability SNOMEDCT_US:52824009|SNOMEDCT_US:9236007|SNOMEDCT_US:59770006|MSH:D004410|UMLS:C0476254 peter 2009-09-20T11:19:24Z HP:0006871 human_phenotype owl:Class HP:0001328 biolink:NamedThing Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025790 The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. HP:0007234 human_phenotype owl:Class MONDO:0018503 biolink:NamedThing carcinoma of stomach, salivary gland type tmpaxzxjjyw_mondo_relaxed.owl gastric carcinoma, salivary gland type ICD10:C16.2|ICD10:C16.6|Orphanet:423781|ICD10:C16.1|ICD10:C16.8|ICD10:C16.5|UMLS:CN237508|ICD10:C16.4|ICD10:C16.3|ICD10:C16.0 owl:Class UBERON:0001208 biolink:NamedThing submucosa of large intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001653 biolink:NamedThing prepuce cancer A malignant neoplasm involving the prepuce. tmpaxzxjjyw_mondo_relaxed.owl malignant prepuce neoplasm|malignant neoplasm of prepuce|prepuce cancer|malignant tumor of foreskin|cancer of prepuce|malignant neoplasm of foreskin ICD9:187.1|SCTID:363450006|ICD10:C60.0|UMLS:C0153598|DOID:13168 owl:Class MONDO:0013429 biolink:NamedThing retinitis pigmentosa 40 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene. tmpaxzxjjyw_mondo_relaxed.owl PDE6B retinitis pigmentosa|RP40|retinitis pigmentosa caused by mutation in PDE6B|retinitis pigmentosa type 40|retinitis pigmentosa 40 UMLS:C3151107|DOID:0110375|ICD10:H35.5|OMIM:613801 owl:Class UBERON:0004788 biolink:NamedThing kidney pelvis urothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009424 biolink:NamedThing Bartter disease type 2 Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene. tmpaxzxjjyw_mondo_relaxed.owl Bartter syndrome, type 2, antenatal|Bartter syndrome caused by mutation in KCNJ1|BARTS2|hypokalemic alkalosis with hypercalciuria 2 antenatal|Bartter disease type 2|Bartter syndrome type 2|hyperprostaglandin E syndrome 2|KCNJ1 Bartter syndrome|Bartter syndrome antenatal type 2|hypokalemic alkalosis with hypercalciuria 2, antenatal|hypokalemic alkalosis with hypercalciuria antenatal 2|Bartter syndrome type 2 antenatal|Bartter syndrome, antenatal, type 2|hypokalemic alkalosis with hypercalciuria, antenatal, 2 OMIM:241200|MESH:C537651|DOID:0110143|Orphanet:93604|Orphanet:112|GARD:0009658|ICD10:E26.8|SCTID:700109009 owl:Class HGNC:2899 biolink:NamedThing DLEC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:23089 biolink:NamedThing SLC13A5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019196 biolink:NamedThing Foix-Alajouanine syndrome Foix-Alajouanine syndrome, also called subacute ascending necrotising myelitis, results from chronic congestion of the extrinsic pial veins of the spinal cord and of the intrinsic subpial network. It is characterised by progressive ascending deficit over a period of several months or years. tmpaxzxjjyw_mondo_relaxed.owl Subacute necrotizing myelitis|familial osteosclerosis with abnormalities of the nervous system and meninges|Subacute angiohypertrophic myelomalacia|Subacute ascending necrotizing myelitis|angiodysgenetic necrotizing myelopathy ICD9:323.9|UMLS:CN205776|Orphanet:79093|ICD10:G37.4|SCTID:230379007 owl:Class GO:0030295 biolink:NamedThing protein kinase activator activity Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019887 biolink:NamedThing protein kinase regulator activity Modulates the activity of a protein kinase, an enzyme which phosphorylates a protein. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004755 biolink:NamedThing skeletal tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0052547 biolink:NamedThing regulation of peptidase activity Any process that modulates the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins. tmpaxzxjjyw_mondo_relaxed.owl peptidase regulator activity owl:Class UBERON:0009845 biolink:NamedThing urogenital sinus mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008966 biolink:NamedThing Aagenaes syndrome Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life. tmpaxzxjjyw_mondo_relaxed.owl LCS|lymphedema cholestasis syndrome|Aagenaes syndrome|Chls|lymphedema-cholestasis syndrome|cholestasis-lymphedema syndrome|cholestasis lymphedema syndrome|cholestasis-edema syndrome, Norwegian type|LCS1 MESH:C535330|DOID:6691|Orphanet:1414|OMIM:214900|ICD9:576.8|SCTID:28724005|UMLS:C0268314|GARD:0000370|NCIT:C35709|ICD10:Q82.0 https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome owl:Class MONDO:0005888 biolink:NamedThing ornithosis Disease caused by the Chlamydophila psittaci bacteria, usually transmitted from birds to humans. tmpaxzxjjyw_mondo_relaxed.owl psittacosis ICD9:073|ICD9:073.9|UMLS:C0029291|DOID:11262|EFO:0007410|NCIT:C34873|ICD10:A70|MESH:D009956|SCTID:75116005|GARD:0007492 owl:Class MONDO:0003567 biolink:NamedThing bilateral hypoactive labyrinth tmpaxzxjjyw_mondo_relaxed.owl hypoactive bilateral labyrinthine dysfunction|hypoactive labyrinth, bilateral ICD9:386.54|UMLS:C0155518|SCTID:194375009|DOID:565 owl:Class MONDO:0026724 biolink:NamedThing Paganini-Miozzo syndrome tmpaxzxjjyw_mondo_relaxed.owl MRXSPM|Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type|PAGANINI-MIOZZO SYNDROME OMIM:301025 owl:Class MONDO:0012253 biolink:NamedThing multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated. tmpaxzxjjyw_mondo_relaxed.owl epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia UMLS:C1836315|ICD10:Q77.3|MESH:C563736|Orphanet:166029|OMIM:609324 owl:Class MONDO:0016648 biolink:NamedThing multiple epiphyseal dysplasia Multiple epiphyseal dysplasias (MED/EDMs) are characterized by epiphyseal anomalies causing joint pain early in life, recurrent osteochondritis and early arthrosis. The EDMs are a heterogeneous group of diseases with variable expression classed as MED/EDMs 1-6. tmpaxzxjjyw_mondo_relaxed.owl multiple epiphyseal dysplasia (disease)|EDM|multiple epiphyseal dysplasia|Polyepiphyseal dysplasia|MED|polyepiphyseal dysplasia|epiphyseal dysplasia, multiple multiple epiphyseal dysplasia (disease) DOID:12721|HP:0002654|MedDRA:10028197|OMIM:226900|ICD9:756.56|Orphanet:251|SCTID:59708000|OMIM:600969|OMIM:614135|MESH:D010009|OMIM:607078|OMIM:600204|OMIMPS:132400|GARD:0010756|OMIM:132400|ICD10:Q77.3 owl:Class UBERON:0034905 biolink:NamedThing gland lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013683 biolink:NamedThing vesicoureteral reflux 5 tmpaxzxjjyw_mondo_relaxed.owl vesicoureteral reflux 5|VUR5 Orphanet:289365|OMIM:614318|UMLS:C3280440 owl:Class HP:0001920 biolink:NamedThing Renal artery stenosis The presence of stenosis of the renal artery. tmpaxzxjjyw_mondo_relaxed.owl Narrowing of kidney artery SNOMEDCT_US:282664001|MSH:D012078|Fyler:2634|UMLS:C0035067|SNOMEDCT_US:302233006 human_phenotype owl:Class HP:0100545 biolink:NamedThing Arterial stenosis Narrowing or constriction of the inner surface (lumen) of an artery. tmpaxzxjjyw_mondo_relaxed.owl Narrowing of an artery SNOMEDCT_US:68109007|UMLS:C0038449 doelkens 2010-12-21T01:30:07Z human_phenotype owl:Class GO:0045989 biolink:NamedThing positive regulation of striated muscle contraction Any process that activates or increases the frequency, rate or extent of striated muscle contraction. tmpaxzxjjyw_mondo_relaxed.owl stimulation of striated muscle contraction|up regulation of striated muscle contraction|activation of striated muscle contraction|up-regulation of striated muscle contraction|upregulation of striated muscle contraction owl:Class MONDO:0013166 biolink:NamedThing GABA aminotransferase deficiency Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration. tmpaxzxjjyw_mondo_relaxed.owl gamma-aminobutyric acid transaminase deficiency|GABAT|gamma aminobutyrate transaminase deficiency|gamma aminobutyric acid transaminase deficiency|ABAT|gamma-amino butyric acid transaminase deficiency|4 alpha aminobutyrate transaminase deficiency|GABA aminotransferase deficiency|GABA-transaminase deficiency|GABA transaminase deficiency DOID:0060174|UMLS:C0342708|SCTID:237941007|Orphanet:2066|ICD10:E72.8|GARD:0000194|MESH:C535407|OMIM:613163|HGNC:23 owl:Class MONDO:0021322 biolink:NamedThing malignant tumor of meninges A cancer that involves the meningeal cluster. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of meninges|malignant meningeal neoplasms|malignant neoplasm of the meninges|malignant neoplasms of meninges|cancer of meningeal cluster|malignant meningeal cluster neoplasm|malignant neoplasm of meningeal cluster|meningeal tumors, malignant|cancer of the meninges|malignant meningeal tumor|malignant tumor of the meninges|malignant meninges neoplasm|malignant meninges tumor|meningeal cancer|cancer of meninges|meningeal cluster cancer SCTID:363497007|UMLS:C0348375|NCIT:C4628 owl:Class MONDO:0015705 biolink:NamedThing autosomal recessive centronuclear myopathy Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. tmpaxzxjjyw_mondo_relaxed.owl AR-CNM|centronuclear myopathy, autosomal recessive ICD10:G71.2|UMLS:C3645536|OMIM:615959|DOID:0111216|SCTID:240081004|Orphanet:169186|GARD:0012718|OMIM:255200 owl:Class MONDO:0003180 biolink:NamedThing cutaneous adenocystic carcinoma A adenoid cystic carcinoma that involves the skin of body. tmpaxzxjjyw_mondo_relaxed.owl adenoid cystic carcinoma of skin|adenoid cystic carcinoma of the skin|skin of body adenoid cystic carcinoma|adenoid cystic eccrine carcinoma of skin|adenoid cystic eccrine carcinoma (morphologic abnormality)|primary cutaneous adenocystic carcinoma|adenoid cystic skin carcinoma|adenoid cystic cutaneous carcinoma|adenoid cystic eccrine carcinoma UMLS:C0346017|NCIT:C4471|SCTID:254711000|DOID:4871 owl:Class MONDO:0004971 biolink:NamedThing adenoid cystic carcinoma A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic. tmpaxzxjjyw_mondo_relaxed.owl cylindroid adenocarcinoma|cylindroma|adenoid cystic carcinoma|cribriform carcinoma|adenoid cystic cancer|adenocystic carcinoma ICDO:8200/3|UMLS:C0010606|EFO:0000231|NCIT:C2970|DOID:0080202|MESH:D003528|ONCOTREE:ACYC|GARD:0005743 owl:Class MONDO:0010532 biolink:NamedThing infantile-onset X-linked spinal muscular atrophy A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure. tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy with arthrogryposis|AMC, distal, X-linked|spinal muscular atrophy, X-linked 2|spinal muscular atrophy, X-linked type 2|spinal muscular atrophy, X-linked lethal infantile|spinal muscular atrophy, infantile X-linked|X-linked distal arthrogryposis multiplex congenita|arthrogryposis, X-linked, type 1|arthrogryposis multiplex congenita, distal, X-linked|SMAX2|X-linked spinal muscular atrophy type 2 GARD:0008521|OMIM:301830|SCTID:719836007|Orphanet:1145|MESH:C535380|UMLS:C1844934|ICD10:G12.1 owl:Class MONDO:0016107 biolink:NamedThing myotonic dystrophy An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies. tmpaxzxjjyw_mondo_relaxed.owl inherited myotonic dystrophy|myotonia dystrophica|myotonia atrophica|myotonic disease MedDRA:10068871|OMIMPS:160900|ICD10:G71.1|UMLS:C0027126|ICD9:359.2|GARD:0010419|NCIT:C84914|DOID:450|Orphanet:206647|MESH:D009223|SCTID:240104008 owl:Class HGNC:3964 biolink:NamedThing FSHB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003624 biolink:NamedThing acinic cell breast carcinoma A breast adenocarcinoma characterized by the presence of serous (acinic cell) differentiation. tmpaxzxjjyw_mondo_relaxed.owl breast carcinoma of acinar cell|acinic cell breast carcinoma|acinar cell breast carcinoma NCIT:C40367|UMLS:C1515868|DOID:5743 owl:Class MONDO:0010384 biolink:NamedThing hypospadias 1, X-linked tmpaxzxjjyw_mondo_relaxed.owl hypospadias 1, X-linked|HYSP1 OMIM:300633|Orphanet:440|UMLS:C2678098|MESH:C567482 owl:Class MONDO:0005345 biolink:NamedThing hypospadias Hypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce. tmpaxzxjjyw_mondo_relaxed.owl hypospadias|hypospadias familial|familial hypospadias|hypospadias (disease) hypospadias (disease) SCTID:416010008|ICD9:752.61|ICD10:Q54.8|OMIMPS:300633|MESH:D007021|Orphanet:440|NCIT:C40341|HP:0000047|OMIM:300856|EFO:0004209|ICD10:Q54.0|OMIM:146450|ICD10:Q54.4|GARD:0002929|UMLS:CN205090|DOID:10892|OMIM:300758|ICD10:Q54.1|OMIM:300633|ICD10:Q54.3|ICD10:Q54|UMLS:C0848558|ICD10:Q54.9|ICD10:Q54.2 owl:Class MONDO:0017742 biolink:NamedThing disorder of O-xylosylglycan synthesis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:309450|ICD10:E77.8|UMLS:CN227189 owl:Class MONDO:0017741 biolink:NamedThing disorder of protein O-glycosylation A disease that has its basis in the disruption of protein O-linked glycosylation. tmpaxzxjjyw_mondo_relaxed.owl protein O-linked glycosylation disease|disorder of protein O-linked glycosylation UMLS:CN227188|Orphanet:309447|ICD10:E77.8 owl:Class GO:2001169 biolink:NamedThing regulation of ATP biosynthetic process Any process that modulates the frequency, rate or extent of ATP biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of ATP biosynthesis|regulation of ATP formation|regulation of ATP synthesis|regulation of ATP regeneration|regulation of ATP anabolism owl:Class UBERON:0006255 biolink:NamedThing ischial pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018725 biolink:NamedThing corpus callosum agenesis-macrocephaly-hypertelorism syndrome tmpaxzxjjyw_mondo_relaxed.owl 7q36.3 microduplication syndrome|dup(7)(q36.3) ICD10:Q04.0|UMLS:CN242137|Orphanet:459074 owl:Class MONDO:0008731 biolink:NamedThing familial adrenal hypoplasia with absent pituitary luteinizing hormone tmpaxzxjjyw_mondo_relaxed.owl familial adrenal hypoplasia, miniature type|adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone|familial adrenal hypoplasia with absent pituitary LH UMLS:C1859978|OMIM:202150|Orphanet:95700|ICD10:E27.1|MESH:C565976 owl:Class MONDO:0020042 biolink:NamedThing syndrome with 46,XY disorder of sex development tmpaxzxjjyw_mondo_relaxed.owl syndrome with 46,XY DSD 2022-03-01 Orphanet:98087|UMLS:CN206965 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class GO:0042325 biolink:NamedThing regulation of phosphorylation Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009117 biolink:NamedThing indifferent gonad tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000991 biolink:NamedThing gonad tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000476 biolink:NamedThing acellular anatomical structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008240 biolink:NamedThing 6-phosphogluconolactonase deficiency tmpaxzxjjyw_mondo_relaxed.owl 6Pgl deficiency|6-phosphogluconolactonase deficiency|Pgls deficiency UMLS:C1868355|MESH:C566803|OMIM:172150 owl:Class GO:1900131 biolink:NamedThing negative regulation of lipid binding Any process that stops, prevents or reduces the frequency, rate or extent of lipid binding. tmpaxzxjjyw_mondo_relaxed.owl downregulation of lipid binding|inhibition of lipid binding|down-regulation of lipid binding|down regulation of lipid binding owl:Class GO:0040019 biolink:NamedThing positive regulation of embryonic development Any process that activates or increases the frequency, rate or extent of embryonic development. tmpaxzxjjyw_mondo_relaxed.owl up regulation of embryonic development|stimulation of embryonic development|up-regulation of embryonic development|activation of embryonic development|upregulation of embryonic development owl:Class MONDO:0010810 biolink:NamedThing vitamin D hydroxylation-deficient rickets, type 1B An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets. tmpaxzxjjyw_mondo_relaxed.owl Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency|vitamin D-dependent rickets, type 1B|Vitam D hydroxylation-deficient rickets type 1b|VDDR1B|vitamin D hydroxylation-deficient rickets, type 1B|CYP2R1 vitamin D-dependent rickets, type 1|vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1|vitamin D 25-Hydroxylase deficiency|25-Hydroxyvitamin D3 deficiency, selective|vitamin D hydroxylation-deficient rickets type 1b OMIM:600081|UMLS:C1838657|NCIT:C131074|MESH:C564005|Orphanet:289157 owl:Class MONDO:0014082 biolink:NamedThing cryptosporidiosis-chronic cholangitis-liver disease syndrome tmpaxzxjjyw_mondo_relaxed.owl IMD56|IL21R immunodeficiency|cryptosporidiosis-chronic cholangitis-liver disease syndrome|immunodeficiency 56 ICD10:D81.8|UMLS:C3554687|OMIM:615207|Orphanet:357329 owl:Class UBERON:0010069 biolink:NamedThing outer epithelial layer of tympanic membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009647 biolink:NamedThing tympanic membrane epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0072330 biolink:NamedThing monocarboxylic acid biosynthetic process The chemical reactions and pathways resulting in the formation of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group. tmpaxzxjjyw_mondo_relaxed.owl monocarboxylic acid formation|monocarboxylic acid synthesis|monocarboxylic acid anabolism|monocarboxylic acid biosynthesis owl:Class GO:0046394 biolink:NamedThing carboxylic acid biosynthetic process The chemical reactions and pathways resulting in the formation of carboxylic acids, any organic acid containing one or more carboxyl (-COOH) groups. tmpaxzxjjyw_mondo_relaxed.owl carboxylic acid biosynthesis|carboxylic acid synthesis|carboxylic acid anabolism|carboxylic acid formation owl:Class MONDO:0009435 biolink:NamedThing hypospadias-intellectual disability, Goldblatt type syndrome Hypospasdias B intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails. tmpaxzxjjyw_mondo_relaxed.owl hypospadias mental retardation Goldblatt type|hypospadias-mental retardation syndrome|hypospadias intellectual deficit Goldblatt type|hypospadias-intellectual disability syndrome|hypospadias intellectual disability Goldblatt type|Goldblatt Wallis syndrome|hypospadias intellectual disability syndrome|hypospadias mental retardation syndrome|Goldblatt-Wallis syndrome OMIM:241760|ICD10:Q87.8|MESH:C563067|Orphanet:2261|GARD:0002928|SCTID:716096005 https://rarediseases.info.nih.gov/diseases/2928/hypospadias-mental-retardation-goldblatt-type owl:Class HGNC:6831 biolink:NamedThing MANBA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012279 biolink:NamedThing congenital muscular dystrophy merosin-positive The congenital muscle dystrophies are currently classified according to the genetic defects. Historically, congenital muscular dystrophies were classified in two broad groups: Classic CMD (which included the Merosin-deficient CMD and the Merosin-positive CMD) and the CMD with central nervous system (CNS) abnormalities (Fukuyama CMD, muscle-eye-brain disease and Walker-Warburg syndrome). Therefore, merosin-positive congenital muscle dystrophy (CMD) is now considered an old term which refers to a group of diseases without structural brain abnormalities that are caused by a variety of gene mutations, resulting in protein defects that do not affect the merosin protein. Itusually has a milder phenotype than the merosin-negative CMD dystrophy group and includes, among others: Classic CMD without distinguishing features Rigid spine syndrome associated with mutations in the selenoprotein N1 gene (SEPN1) CMD with hyperextensible distal joints (Ullrich type) CMD with intellectual disability or sensory abnormalities. The pattern of muscle weakness and wasting in the patients within this group of congenital muscular dystrophy conditions is worse in the proximal upper limb-girdle and trunk muscles. Lower limb muscles may be mildly involved. Muscle biopsy shows a dystrophic pattern with normal staining for dystrophin, laminin alpha-2 of merosin and the sarcoglycans. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, congenital, merosin-POSITIVE OMIM:609456|DOID:0110638|UMLS:C1836133|GARD:0003855|MESH:C563716 https://rarediseases.info.nih.gov/diseases/3855/muscular-dystrophy-congenital-merosin-positive owl:Class SO:0001265 biolink:NamedThing miRNA_gene A small noncoding RNA of approximately 22 nucleotides in length which may be involved in regulation of gene expression. tmpaxzxjjyw_mondo_relaxed.owl stRNA_gene|stRNA gene|miRNA gene owl:Class SO:0002342 biolink:NamedThing sncRNA_gene A ncRNA_gene (SO:0001263) that is less than 200 nucleotides in length. tmpaxzxjjyw_mondo_relaxed.owl small non-coding RNA gene|sncRNA gene owl:Class MONDO:0016591 biolink:NamedThing sporadic adult-onset ataxia of unknown etiology Sporadic adult-onset ataxia of unknown etiology describes a group of non-hereditary degenerative ataxias characterized by a slowly progressive cerebellar syndrome (with ataxia of stance and gait, upper limb dysmetria and intention tremor, ataxic speech, and oculomotor abnormalities), presenting in adulthood (at around 50 years of age), that is not due to a known cause. Extracerebellar symptoms (e.g., decreased vibration sense and absent or decreased ankle reflexes), polyneuropathy and mild autonomic dysfunction may also be present. Mild cognitive impairment has also rarely been reported. tmpaxzxjjyw_mondo_relaxed.owl SAOA|idiopathic late-onset cerebellar ataxia SCTID:734023003|Orphanet:247234 owl:Class MONDO:0016592 biolink:NamedThing non-hereditary degenerative ataxia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:247239 owl:Class HGNC:3091 biolink:NamedThing DYRK1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045862 biolink:NamedThing positive regulation of proteolysis Any process that activates or increases the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. tmpaxzxjjyw_mondo_relaxed.owl activation of proteolysis|upregulation of proteolysis|stimulation of proteolysis|positive regulation of peptidolysis|up-regulation of proteolysis|up regulation of proteolysis owl:Class UBERON:0002187 biolink:NamedThing terminal bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:24870 biolink:NamedThing ion A molecular entity having a net electric charge. tmpaxzxjjyw_mondo_relaxed.owl ion|iones|ions|Ionen|Ion owl:Class CHEBI:23367 biolink:NamedThing molecular entity Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity. tmpaxzxjjyw_mondo_relaxed.owl entidad molecular|entidades moleculares|molekulare Entitaet|molecular entity|molecular entities|entite moleculaire owl:Class MONDO:0013584 biolink:NamedThing hereditary sensory neuropathy-deafness-dementia syndrome A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13. tmpaxzxjjyw_mondo_relaxed.owl hereditary sensory neuropathy type IE|hereditary sensory and autonomic neuropathy type 1E|hereditary sensory neuropathy with hearing loss and dementia|neuropathy, hereditary sensory, type 1E|hereditary sensory neuropathy type 1E|HSN 1E|neuropathy, hereditary sensory, with hearing loss and dementia|DNMT1-related dementia, deafness, and sensory neuropathy|HSNIE|neuropathy, hereditary sensory, type IE|HSN1E|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|HSAN1E ICD10:G60.8|DOID:0070158|UMLS:C3279885|MESH:C580162|GARD:11927|GARD:0011927|Orphanet:456318|OMIM:614116 owl:Class MONDO:0015905 biolink:NamedThing syndromic dyslipidemia A inherited lipid metabolism disorder that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic inherited lipid metabolism disorder|rare syndromic dyslipidemia|complex dyslipidemia|syndrome associated with inherited lipid metabolism disorder SCTID:109041000119107|UMLS:C3875286|Orphanet:181437 owl:Class HGNC:25583 biolink:NamedThing ODAD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003092 biolink:NamedThing lacrimal gland mucoepidermoid carcinoma An extremely rare carcinoma that arises from the lacrimal gland. It is characterized by the presence of infiltrating nests of epidermoid cells and mucus producing cells. tmpaxzxjjyw_mondo_relaxed.owl mucoepidermoid carcinoma of the lacrimal gland|mucoepidermoid carcinoma of lacrimal gland|lacrimal gland mucoepidermoid carcinoma NCIT:C6091|DOID:4685|UMLS:C1334359 owl:Class CL:0000507 biolink:NamedThing endorphin secreting cell A peptide hormone secreting cell that secretes endorphin. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0000167 biolink:NamedThing peptide hormone secreting cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0014176 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). tmpaxzxjjyw_mondo_relaxed.owl IHPRF syndrome|IHPRF|hypotonia-speech impairment-severe cognitive delay syndrome|infantile hypotonia-psychomotor retardation-characteristic facies syndrome|hypotonia, infantile, with psychomotor retardation and characteristic facies UMLS:CN204877|OMIMPS:615419|Orphanet:371364|OMIM:616801|ICD10:Q87.8|OMIM:615419 owl:Class MONDO:0010391 biolink:NamedThing angioma serpiginosum, X-linked tmpaxzxjjyw_mondo_relaxed.owl angioma serpiginosum, X-linked OMIM:300652|Orphanet:95429|GARD:0010188 owl:Class UBERON:0001969 biolink:NamedThing blood plasma tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020722 biolink:NamedThing nephrolithiasis susceptibility caused by SLC26A1 tmpaxzxjjyw_mondo_relaxed.owl CAON|urolithiasis, calcium oxalate|nephrolithiasis, calcium oxalate OMIM:167030|UMLS:C1833683 owl:Class MONDO:0021152 biolink:NamedThing inherited A characteristic of a disease in which the cause of the disease is a genetic problem inherited from either or both parents. tmpaxzxjjyw_mondo_relaxed.owl constitutitional genetic|familial|genetic|inherited genetic|hereditary EFO:0004420 owl:Class MONDO:0021149 biolink:NamedThing genetic vs non-genetic etiology tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0099529 biolink:NamedThing neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential Neurotransmitter receptor activity occurring in the postsynaptic membrane that is involved in regulating postsynaptic membrane potential, either directly (ionotropic receptors) or indirectly (e.g. via GPCR activation of an ion channel). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0061133 biolink:NamedThing endopeptidase activator activity Binds to and increases the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000106 biolink:NamedThing 12-year-old human stage Child stage that refers to a child who is over 12 and under 13 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002542 biolink:NamedThing spinal cord glioma A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma. tmpaxzxjjyw_mondo_relaxed.owl spinal cord glial tumor|spinal cord malignant glioma|glioma of spinal cord|malignant glioma of spinal cord|glial neoplasm spinal cord|spinal cord glial neoplasm|spinal cord glioma|glial tumor of spinal cord SCTID:254946004|NCIT:C4534|DOID:3185|UMLS:C2937245 owl:Class MONDO:0005658 biolink:NamedThing Astroviridae infectious disease Infections with astrovirus, causing gastroenteritis in human infants, calves, lambs, and piglets. tmpaxzxjjyw_mondo_relaxed.owl MESH:D019350|EFO:0007158|UMLS:C0376550 owl:Class CL:0000552 biolink:NamedThing orthochromatic erythroblast The final stage of the nucleated, immature erythrocyte, before nuclear loss. Typically the cytoplasm is described as acidophilic, but it still shows a faint polychromatic tint. The nucleus is small and initially may still have coarse, clumped chromatin, as in its precursor, the polychromatophilic erythroblast, but ultimately it becomes pyknotic, and appears as a deeply staining, blue-black, homogeneous structureless mass. The nucleus is often eccentric and sometimes lobulated. tmpaxzxjjyw_mondo_relaxed.owl late erythoblast|orthochromatic normoblast|acidophilic erythroblast|pyknotic eto enrythroblast|eosinophilic erythroblast FMA:84646 cell owl:Class CL:0000765 biolink:NamedThing erythroblast A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers. tmpaxzxjjyw_mondo_relaxed.owl normoblast CALOHA:TS-0289|FMA:83504|BTO:0001571 cell owl:Class UBERON:0003534 biolink:NamedThing tail skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017027 biolink:NamedThing primary interstitial lung disease specific to adulthood tmpaxzxjjyw_mondo_relaxed.owl primary ILD specific to adulthood Orphanet:264740|UMLS:CN202339 owl:Class HP:0007354 biolink:NamedThing Amyotrophic lateral sclerosis tmpaxzxjjyw_mondo_relaxed.owl Lou Gehrig's disease UMLS:C0002736|MSH:D000690|SNOMEDCT_US:86044005 human_phenotype owl:Class HP:0007373 biolink:NamedThing Motor neuron atrophy Wasting involving the motor neuron. tmpaxzxjjyw_mondo_relaxed.owl Motor neuron degeneration UMLS:C4024896 peter 2008-04-01T10:39:00Z human_phenotype owl:Class MONDO:0018301 biolink:NamedThing interstitial cystitis A rare chronic debilitating urogenital disease characterized by urinary frequency, urgency, and pelvic pain. tmpaxzxjjyw_mondo_relaxed.owl bladder pain syndrome|interstitial cystitis, chronic|IC/BPS|interstitial cystitis/bladder pain syndrome|chronic interstitial cystitis|interstitial cystitis/painful bladder syndrome|painful bladder syndrome|IC/PBS|ulcerative cystitis MESH:D018856|Orphanet:37202|UMLS:CN204884|ICD9:595.1|MedDRA:10008927|SCTID:197834003|DOID:13949|UMLS:C1720830|EFO:1000869|NCIT:C27189|UMLS:C0600040|MedDRA:10011796|UMLS:C0282488|ICD10:N30.1|SCTID:111409009|DOID:1678 owl:Class MONDO:0006030 biolink:NamedThing chronic cystitis Recurrent infections of the urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl cystitis, chronic ICD10:N30.2|UMLS:C0221763|EFO:1000023|SCTID:33655002|NCIT:C27008|ICD9:595.2|DOID:1680 owl:Class MONDO:0012375 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 47 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2p25.1-p24.3. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive deafness 47|deafness, neurosensory, autosomal recessive 47|autosomal recessive nonsyndromic deafness 47|DFNB47|autosomal recessive nonsyndromic deafness type 47|deafness, autosomal recessive 47 ICD10:H90.3|UMLS:C1864964|OMIM:609946|DOID:0110504|MESH:C566498|GARD:0009935 owl:Class HGNC:10912 biolink:NamedThing SLC12A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013705 biolink:NamedThing fascia of Scarpa tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003427 biolink:NamedThing abdominal fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008802 biolink:NamedThing antithrombin, familial hemorrhagic diathesis due to tmpaxzxjjyw_mondo_relaxed.owl antithrombin, familial hemorrhagic diathesis due to UMLS:C1859761|MESH:C565947|OMIM:207300 owl:Class MONDO:0000894 biolink:NamedThing mucinous bronchioloalveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. tmpaxzxjjyw_mondo_relaxed.owl DOID:0080185 owl:Class MONDO:0024338 biolink:NamedThing mucinous neoplasm tmpaxzxjjyw_mondo_relaxed.owl mucinous neoplasm|mucinous tumor NCIT:C7070|UMLS:C1334811 owl:Class MONDO:0006277 biolink:NamedThing lung lymphangioleiomyomatosis Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course. tmpaxzxjjyw_mondo_relaxed.owl pulmonary lymphangiomyomatosis|lymphangioleiomyomatosis|lung lymphangioleiomyomatosis|pulmonary lymphangioleiomyomatosis|lung lymphangiomyomatosis ICD9:518.89|SCTID:277844007|EFO:1000334|OMIM:606690|ONCOTREE:LAM|MESH:D018192|ICD10:D48.7|Orphanet:538|GARD:0003319|DOID:3319|MedDRA:10049459|NCIT:C38153 https://github.com/monarch-initiative/mondo/issues/4016 owl:Class MONDO:0003274 biolink:NamedThing thoracic cancer A primary or metastatic malignant neoplasm affecting the tissues of the thorax. tmpaxzxjjyw_mondo_relaxed.owl thoracic segment of trunk cancer|malignant neoplasm of thorax|malignant tumor of thorax|thorax neoplasm|malignant thoracic neoplasm|thoracic tumor|thorax cancer|tumor of thorax|malignant thoracic tumor|malignant tumor of the thorax|malignant neoplasm of thoracic segment of trunk|cancer of thoracic segment of trunk|malignant neoplasm of the thorax|malignant thoracic segment of trunk neoplasm UMLS:C0039981|SCTID:188361007|ICD10:C76.1|UMLS:C0153661|DOID:5093|SCTID:255058005|ICD9:195.1|NCIT:C3576|NCIT:C3406 owl:Class NCBITaxon:2499411 biolink:NamedThing Articulavirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2497577 biolink:NamedThing Insthoviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:121791 biolink:NamedThing Nipah henipavirus tmpaxzxjjyw_mondo_relaxed.owl Nipah-virus|Nipah virus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:260964 biolink:NamedThing Henipavirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:36340 biolink:NamedThing fermion Particle of half-integer spin quantum number following Fermi-Dirac statistics. Fermions are named after Enrico Fermi. tmpaxzxjjyw_mondo_relaxed.owl fermion|fermions owl:Class CHEBI:36342 biolink:NamedThing subatomic particle A particle smaller than an atom. tmpaxzxjjyw_mondo_relaxed.owl subatomic particles owl:Class MONDO:0013245 biolink:NamedThing syndromic multisystem autoimmune disease due to ITCH deficiency tmpaxzxjjyw_mondo_relaxed.owl autoimmune disease, syndromic multisystem|syndromic multisystem autoimmune disease due to ITCH deficiency|autoimmune disease, multisystem, with facial dysmorphism|ITCH E3 ubiquitin ligase deficiency|syndromic multisystem autoimmune disease|ADMFD UMLS:C3150649|GARD:0010775|Orphanet:228426|OMIM:613385 https://rarediseases.info.nih.gov/diseases/10775/itch-e3-ubiquitin-ligase-deficiency owl:Class MONDO:0020751 biolink:NamedThing orthostatic hypotension 2 tmpaxzxjjyw_mondo_relaxed.owl OMIM:618182 owl:Class MONDO:0021272 biolink:NamedThing inherited orthostatic hypotension tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:223360 owl:Class HGNC:15868 biolink:NamedThing ABHD12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000023 biolink:NamedThing Inguinal hernia Protrusion of the contents of the abdominal cavity through the inguinal canal. tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10022016|UMLS:C0019294|SNOMEDCT_US:396232000|MSH:D006552 Inguinal hernia appears as a bulge in the groin. human_phenotype owl:Class HP:0004299 biolink:NamedThing Hernia of the abdominal wall The presence of a hernia in the abdominal wall. tmpaxzxjjyw_mondo_relaxed.owl Herniated abdominal wall UMLS:C1442978|SNOMEDCT_US:128545000|Fyler:4414 A hernia refers to a sac formed by the lining of the abdominal cavity (peritoneum). The sac can protrude through a hole or weak area in the abdominal fascia. peter 2008-02-20T11:42:00Z human_phenotype owl:Class MONDO:0005136 biolink:NamedThing malaria Malaria is a serious and sometimes fatal disease caused by a parasite that commonly infects a certain type of mosquito which feeds on humans. Infection with malaria parasites may result in a wide variety of symptoms, ranging from absent or very mild symptoms to severe disease and even death. People who get malaria are typically very sick with high fevers, shaking chills, and flu-like illness. In general, malaria is a curable disease if diagnosed and treated promptly and correctly.Treatment depends on many factors including disease severity, the species of malaria parasite causing the infection and the part of the world in which the infection was acquired. tmpaxzxjjyw_mondo_relaxed.owl plasmodiosis ICD10:B50.8|MESH:D008288|ICD9:084|GARD:0006961|UMLS:C0024530|ICD10:B52.0|EFO:0001068|ICD10:B53.0|OMIM:611162|DOID:12365|ICD10:B50.0|ICD10:B51.8|ICD10:B54|ICD10:B53.8|NCIT:C34797|ICD10:B52.9|ICD9:084.6|MedDRA:10025487|ICD10:B50.9|SCTID:61462000|OMIM:609148|Orphanet:673|ICD10:B53|ICD10:B51.0|ICD10:B51.9|ICD10:B52.8|ICD10:B53.1 https://rarediseases.info.nih.gov/diseases/6961/malaria owl:Class MONDO:0021457 biolink:NamedThing benign neoplasm of pleura A benign neoplasm that involves the pleura. tmpaxzxjjyw_mondo_relaxed.owl benign pleural tumor|benign tumor of the pleura|pleura benign neoplasm|benign tumor of pleura|benign pleural neoplasm|benign neoplasm of the pleura UMLS:C0153955|ICD9:212.4|NCIT:C3603|SCTID:92298003 owl:Class MONDO:0015109 biolink:NamedThing congenital anomaly of the mitral subvalvular apparatus tmpaxzxjjyw_mondo_relaxed.owl Orphanet:101932|ICD10:Q23.8 owl:Class MONDO:0019817 biolink:NamedThing congenital mitral valve insufficiency and/or stenosis tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q23|Orphanet:95464|ICD10:Q23.2|ICD10:Q23.3 owl:Class UBERON:0003581 biolink:NamedThing eyelid connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019507 biolink:NamedThing amelogenesis imperfecta Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. tmpaxzxjjyw_mondo_relaxed.owl OMIM:617217|OMIM:616270|OMIMPS:104500|GARD:0005791|OMIM:301201|OMIM:301200|OMIM:616221|ICD9:520.5|ICD10:K00.5|OMIM:130900|Orphanet:88661|OMIM:104530|SCTID:78494001|OMIM:615887|OMIM:204700|OMIM:104510|DOID:2187|OMIM:204650|OMIM:104500|OMIM:613211|MESH:D000567|OMIM:612529|OMIM:614832|CSP:0828-0533 https://rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta owl:Class MONDO:0012392 biolink:NamedThing 2-methylbutyryl-CoA dehydrogenase deficiency A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported. tmpaxzxjjyw_mondo_relaxed.owl SBCAD deficiency|developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency|short/branched-chain acyl-coA dehydrogenase deficiency|2-methylbutyryl Glycinuria|2-methylbutyryl-CoA dehydrogenase deficiency|2-methylbutyric aciduria|short branched-chain acyl-CoA dehydrogenase deficiency|short/branched-chain acyl-Coa dehydrogenase deficiency|butyryl-CoA dehydrogenase deficiency UMLS:C1864912|OMIM:610006|NCIT:C98863|GARD:0010322|Orphanet:79157|ICD10:E71.1|MESH:C566487 https://rarediseases.info.nih.gov/diseases/10322/2-methylbutyryl-coa-dehydrogenase-deficiency owl:Class MONDO:0019215 biolink:NamedThing classic organic aciduria tmpaxzxjjyw_mondo_relaxed.owl Orphanet:79163 owl:Class MONDO:0007424 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 1 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 1|deafness, autosomal dominant type 1|deafness, autosomal dominant 1, with or without thrombocytopenia|Konigsmark syndrome|deafness, progressive Low tone|LFHL1|autosomal dominant deafness 1|autosomal dominant nonsyndromic deafness 1|hereditary low frequency hearing loss 1|deafness, autosomal dominant 1|hereditary Low frequency hearing loss|autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1|DIAPH1 autosomal dominant nonsyndromic deafness|DFNA1 UMLS:C1852282|DOID:0110541|MESH:C565121|OMIM:124900|ICD10:H90.3 owl:Class UBERON:0015871 biolink:NamedThing facial lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015870 biolink:NamedThing lymph node of head tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050669 biolink:NamedThing negative regulation of homocysteine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving homocysteine. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of homocysteine metabolism|downregulation of homocysteine metabolic process|negative regulation of Hcy metabolism|negative regulation of Hcy metabolic process|down-regulation of homocysteine metabolic process|inhibition of homocysteine metabolic process|down regulation of homocysteine metabolic process owl:Class GO:0031336 biolink:NamedThing negative regulation of sulfur amino acid metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of sulfur amino acid metabolism|down-regulation of sulfur amino acid metabolic process|inhibition of sulfur amino acid metabolic process|down regulation of sulfur amino acid metabolic process|downregulation of sulfur amino acid metabolic process owl:Class PATO:0000947 biolink:NamedThing elliptic A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section. tmpaxzxjjyw_mondo_relaxed.owl oval|elliptical|ovoid|ellipse-shaped|ellipsoid owl:Class PATO:0002318 biolink:NamedThing superelliptic A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt tmpaxzxjjyw_mondo_relaxed.owl Lamé curve owl:Class MONDO:0020770 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 tmpaxzxjjyw_mondo_relaxed.owl SCAN3|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 OMIM:618387 owl:Class MONDO:0021090 biolink:NamedThing lipid-rich breast carcinoma An invasive breast carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells. tmpaxzxjjyw_mondo_relaxed.owl lipid secreting breast carcinoma|lipid-rich breast carcinoma|breast lipid-rich carcinoma NCIT:C40365|DOID:7076|UMLS:C1517894 owl:Class MONDO:0003570 biolink:NamedThing lipid-rich carcinoma A carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. A representative example is the lipid-rich breast carcinoma. tmpaxzxjjyw_mondo_relaxed.owl lipid-rich carcinoma|lipid-rich carcinoma (morphologic abnormality) ICDO:8314/3|NCIT:C4152|UMLS:C0334318|DOID:5658 owl:Class MONDO:0016213 biolink:NamedThing leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226881|ICD10:Q82.8|Orphanet:210133 owl:Class MONDO:0100446 biolink:NamedThing CNGB3-related retinopathy A retinopathy caused by biallelic variants in the CNGB3 gene. tmpaxzxjjyw_mondo_relaxed.owl achromatopsia caused by mutation in CNGB3|rod monochromatism 1, formerly|total colorblindness with myopia|ACHM1 (formerly)|ACHM3|ACHM1, formerly|achromatopsia type 3|rod monochromacy 1|Rod monochromatism 1 (formerly)|Rod monochromacy 1 (formerly)|achromatopsia with myopia|CNGB3 achromatopsia|CNGB3 retinopathy|RMCH1 (formerly)|rod monochromacy 1, formerly|achromatopsia 3|ACHM1|RMCH1|rod monochromatism 1 owl:Class MONDO:0019119 biolink:NamedThing muscular channelopathy A channelopathy that involves the muscle tissue. tmpaxzxjjyw_mondo_relaxed.owl channelopathy of muscle tissue|muscle tissue channelopathy Orphanet:71864|EFO:1001899 owl:Class MONDO:0002996 biolink:NamedThing cavernous sinus meningioma A meningioma that affects the cavernous sinus. tmpaxzxjjyw_mondo_relaxed.owl meningioma of the cavernous sinus|meningioma of cavernous sinus|meningioma (disease) of cavernous sinus|cavernous sinus meningioma (disease) NCIT:C5268|DOID:4435|UMLS:C1332865 owl:Class UBERON:0012503 biolink:NamedThing serosa of fundus of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009105 biolink:NamedThing trichohepatoenteric syndrome A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction. tmpaxzxjjyw_mondo_relaxed.owl Trichohepatoenteric syndrome type 1|Tricho-hepato-enteric syndrome|syndromic diarrhea/Tricho-hepato-enteric syndrome|SD/THE|Trichohepatoenteric syndrome|Syndromatic diarrhea|phenotypic diarrhea|THES1|syndromic diarrhea UMLS:C1857276|OMIM:614602|OMIMPS:222470|OMIM:222470|Orphanet:84064|DOID:0111414|GARD:0005258|SCTID:703406006 owl:Class MONDO:0015135 biolink:NamedThing primary immunodeficiency due to a genetic defect in innate immunity tmpaxzxjjyw_mondo_relaxed.owl primary immunodeficiency due to a defect in innate immunity Orphanet:101988 owl:Class UBERON:0004188 biolink:NamedThing glomerular epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021477 biolink:NamedThing benign neoplasm of sphenoidal sinus A non-metastasizing neoplasm that arises from the sphenoid sinus. tmpaxzxjjyw_mondo_relaxed.owl benign sphenoidal sinus tumor|benign neoplasm of the sphenoidal sinus|benign neoplasm of the sphenoid sinus|benign tumor of sphenoidal sinus|benign sphenoid sinus tumor|benign sphenoid sinus neoplasm|benign tumor of sphenoid sinus|benign tumor of the sphenoid sinus|benign tumor of the sphenoidal sinus|benign sphenoidal sinus neoplasm|benign neoplasm of sphenoid sinus|sphenoidal sinus benign neoplasm SCTID:92404006|UMLS:C0345678|NCIT:C4422|ICD9:212.0 owl:Class MONDO:0020663 biolink:NamedThing malignant spindle cell neoplasm A malignant neoplasm characterized by the presence of atypical spindle cells. tmpaxzxjjyw_mondo_relaxed.owl spindle cell cancer|malignant spindle cell neoplasm|malignant spindle cell tumor NCIT:C27091 owl:Class GO:0002885 biolink:NamedThing positive regulation of hypersensitivity Any process that activates or increases the frequency, rate, or extent of hypersensitivity. tmpaxzxjjyw_mondo_relaxed.owl up regulation of hypersensitivity|up-regulation of hypersensitivity|upregulation of hypersensitivity|stimulation of hypersensitivity|activation of hypersensitivity owl:Class GO:2000284 biolink:NamedThing positive regulation of cellular amino acid biosynthetic process Any process that activates or increases the frequency, rate or extent of cellular amino acid biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cellular amino acid synthesis|positive regulation of cellular amino acid anabolism|positive regulation of cellular amino acid formation|positive regulation of amino acid biosynthetic process|positive regulation of cellular amino acid biosynthesis owl:Class GO:0045764 biolink:NamedThing positive regulation of cellular amino acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amino acid. tmpaxzxjjyw_mondo_relaxed.owl activation of amino acid metabolic process|upregulation of amino acid metabolic process|stimulation of amino acid metabolic process|up regulation of amino acid metabolic process|up-regulation of amino acid metabolic process|positive regulation of amino acid metabolism owl:Class MONDO:0004446 biolink:NamedThing olfactory groove meningioma A meningioma that affects the olfactory sulcus. tmpaxzxjjyw_mondo_relaxed.owl meningioma of olfactory groove|olfactory sulcus meningioma (disease)|meningioma of the olfactory groove|meningioma (disease) of olfactory sulcus UMLS:C1335107|NCIT:C6771|MESH:D008579|DOID:8057 owl:Class MONDO:0015441 biolink:NamedThing ring chromosome 7 Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis). tmpaxzxjjyw_mondo_relaxed.owl rose cluster 7|chromosome 7 ring|Ring 7|R7|Ring chromosome 7 syndrome|Ring chromosome type 7 GARD:0001345|ICD10:Q93.2|Orphanet:1449|MESH:C537813|SCTID:765489006|NCIT:C121986 https://rarediseases.info.nih.gov/diseases/1345/ring-chromosome-7 owl:Class UBERON:0001510 biolink:NamedThing skin of knee tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001511 biolink:NamedThing skin of leg tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001393 biolink:NamedThing peripheral focal chorioretinitis tmpaxzxjjyw_mondo_relaxed.owl ICD9:363.04|SCTID:56787009|DOID:11864|UMLS:C0339394 owl:Class MONDO:0002164 biolink:NamedThing focal chorioretinitis tmpaxzxjjyw_mondo_relaxed.owl DOID:1979|ICD9:363.0|ICD10:H30.0|ICD9:363.00|SCTID:15847003|UMLS:C0154870|ICD10:H30.00 owl:Class MONDO:0010595 biolink:NamedThing Sertoli cell-only syndrome Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome. Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children. tmpaxzxjjyw_mondo_relaxed.owl DEL CASTILLO syndrome|Germinal cell aplasia|Sertoli cell-only syndrome|Del Castillo syndrome DOID:0050457|MESH:D054331|ICD9:752.89|SCTID:73465006|OMIM:400042|GARD:0008406|EFO:1001422 Editor note: consider moving OMIMPS from azoospermia to here https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome owl:Class MONDO:0021412 biolink:NamedThing polyp of maxillary sinus A polyp that involves the maxillary sinus. tmpaxzxjjyw_mondo_relaxed.owl maxillary antral polyp|polyp of the maxillary sinus|maxillary sinus polyp UMLS:C0264239|NCIT:C3931|SCTID:29074008|ICD9:471.8 owl:Class MONDO:0015879 biolink:NamedThing non-syndromic diaphragmatic or thoracic malformation tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic diaphragmatic or thoracic malformation|isolated diaphragmatic or thoracic malformation Orphanet:180776 owl:Class MONDO:0000651 biolink:NamedThing thoracic disorder A non-neoplastic or neoplastic disorder that affects the thorax and/or the organs of the thoracic cavity. Representative examples include pleural infection, mediastinitis, thymoma, mediastinal lymphoma, and pleural mesothelioma. tmpaxzxjjyw_mondo_relaxed.owl thoracic disorder|thoracic segment of trunk disease or disorder|disease or disorder of thoracic segment of trunk|disorder of thoracic segment of trunk|thoracic disease|disorder of thorax|thoracic segment of trunk disease|disease of thoracic segment of trunk 2022-04-01 UMLS:C3661979|DOID:0060118|UMLS:C0039978|SCTID:118946009|MESH:D013896|NCIT:C35742|SCTID:609622007 Reason: grouping class. Term to consider: none owl:Class HGNC:6772 biolink:NamedThing SMAD6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:71585 biolink:NamedThing Balantioides coli tmpaxzxjjyw_mondo_relaxed.owl Paramecium coli|Neobalantidium coli|Balantidium coli PMID:23556024|GC_ID:1|PMID:25185665 ncbi_taxonomy owl:Class NCBITaxon:2038102 biolink:NamedThing Balantioides tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001407 biolink:NamedThing tracheal cancer A malignant neoplasm involving the trachea tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of trachea|malignant tracheal tumor|trachea cancer|malignant neoplasm of trachea|malignant trachea tumor|malignant trachea neoplasm|malignant neoplasm of the trachea|malignant tumor of the trachea|cancer of trachea|Ca trachea|tracheal neoplasm|malignant tracheal neoplasm NCIT:C9346|UMLS:C0153489|SCTID:363432004|ICD10:C33|ICD9:162.0|DOID:11920 owl:Class MONDO:0021210 biolink:NamedThing trachea neoplasm A neoplasm (disease) that involves the trachea. tmpaxzxjjyw_mondo_relaxed.owl tracheal tumor|tumor of the trachea|tracheal neoplasm|trachea tumor|neoplasm of trachea|trachea neoplasm (disease)|tumor of trachea|neoplasm of the trachea UMLS:C0040582|GTR:AN0481062|HP:0100551|GTR:AN0505660|EFO:1001437|MESH:D014134|NCIT:C3419 owl:Class MONDO:0019208 biolink:NamedThing Bickerstaff brainstem encephalitis Bickerstaff's brainstem encephalitis (BBE) is a rare post-infectious neurological disease characterized by the association of external ophthalmoplegia, ataxia, lower limb arreflexia, extensor plantar response and disturbance of consciousness (drowsiness, stupor or coma). tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1960543|Orphanet:79138|SCTID:427086003|ICD9:323.81|ICD10:G61.0 owl:Class MONDO:0020640 biolink:NamedThing autoimmune encephalitis Inflammation of the brain secondary to an immune response triggered by the body itself. tmpaxzxjjyw_mondo_relaxed.owl autoimmune encephalitis SCTID:95643007|NCIT:C122414|GARD:0011979 owl:Class CL:0011027 biolink:NamedThing skeletal muscle fibroblast Any fibroblast that is part of skeletal muscle tissue. tmpaxzxjjyw_mondo_relaxed.owl skeleton muscle fibroblast owl:Class MONDO:0005198 biolink:NamedThing vulvar intraepithelial neoplasia Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. This category includes vulvar high grade squamous intraepithelial lesion and vulvar intraepithelial neoplasia, differentiated type. tmpaxzxjjyw_mondo_relaxed.owl VIN|intraepithelial neoplasia of the vulva|intraepithelial neoplasia of vulva|vulvar intraepithelial tumor|vulva intraepithelial neoplasia|vulval intraepithelial neoplasia|squamous vulvar intraepithelial neoplasia NCIT:C4756|UMLS:C0346210|ICD10:D07.1|Orphanet:137583|EFO:0002627 owl:Class MONDO:0002195 biolink:NamedThing vulvar squamous neoplasm A benign, precancerous, or malignant neoplasm that arises from the squamous epithelium of the vulva. Representative examples include vestibular papilloma, intraepithelial neoplasia, and squamous cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl mammalian vulva squamous cell neoplasm|vulvar squamous neoplasm|vulvar squamous tumor DOID:2072|UMLS:C1520097|NCIT:C40283 owl:Class GO:0034103 biolink:NamedThing regulation of tissue remodeling Any process that modulates the frequency, rate, or extent of tissue remodeling. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021310 biolink:NamedThing malignant tumor of neck A cancer that involves the neck. tmpaxzxjjyw_mondo_relaxed.owl neck cancer|cancer of the neck|malignant neoplasm of neck|malignant neck tumor|cancer of neck|malignant tumor of the neck|malignant neck neoplasm|malignant neoplasm of the neck NCIT:C4940|UMLS:C0746787|SCTID:363489000 owl:Class UBERON:0010359 biolink:NamedThing pharyngeal arch mesenchyme from neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071310 biolink:NamedThing cellular response to organic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005946 biolink:NamedThing rhinosporidiosis Chronic, localized granulomatous infection of mucocutaneous tissues, especially the nose, and characterized by hyperplasia and the development of polyps. It is found in humans and other animals and is caused by the mesomycetozoean organism rhinosporidium seeberi. tmpaxzxjjyw_mondo_relaxed.owl Rhinosporidioses|Rhinosporidium seeberi caused disease or disorder|Rhinosporidium seeberi infectious disease|infection by Rhinosporidium seeberi|Rhinosporidium seeberi disease or disorder ICD10:B48.1|EFO:0007471|UMLS:C0035469|ICD9:117.0|MESH:D012227|DOID:2409|SCTID:18140003 owl:Class MONDO:0014148 biolink:NamedThing estrogen resistance syndrome Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels. Clinical manifestations include absent breast development and primary amenorrhea in association with multicystic ovaries and/or hypoplastic uterus in female patients, normal or abnormal gonadal development in male patients and markedly delayed bone maturation, persistence of open epiphyses, reduced bone mineral density, and variable tall stature in both sexes. Glucose intolerance, hyperinsulinemia and lipid abnormalities may also be present. tmpaxzxjjyw_mondo_relaxed.owl ESTRR|estrogen resistance|estrogen insensitivity OMIM:615363|SCTID:724555000|Orphanet:785|UMLS:C3809250|EFO:0009042 owl:Class MONDO:0011142 biolink:NamedThing Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations. tmpaxzxjjyw_mondo_relaxed.owl EDS, Kosho type|D4ST1-deficient Ehlers-Danlos syndrome|CHST14-related EDS|Dundar syndrome|musculocontractural Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, musculocontractural type, 1|EDSMC1|EDSMC|Ehlers-Danlos syndrome, arthrogryposic type|adducted thumb-clubfoot syndrome|Ehlers-Danlos syndrome, type VIB, formerly|Ehlers-Danlos syndrome, type Vib|autosomal recessive adducted thumb-club foot syndrome|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|Ehlers-Danlos syndrome, type Vib, formerly|adducted thumbs-arthrogryposis syndrome, Dundar type|adducted thumbs Dundar type|Ehlers-Danlos syndrome, Kosho type|ATCS|EDSmc|MCEDS|CHST14-related Ehlers-Danlos syndrome|EDS, musculocontractural type|EDS, arthrogryposic type|arthrogryposis, distal, with peculiar facies and hydronephrosis|musculocontractural EDS|Ehlers-Danlos syndrome, musculocontractural type 1|adducted thumb-club foot syndrome|EDS6B, formerly|adducted thumb clubfoot syndrome|D4ST1-deficient EDS SCTID:720860004|ICD10:Q79.6|GARD:0000545|GARD:0008486|MESH:C000600608|OMIM:615539|Orphanet:2953 https://rarediseases.info.nih.gov/diseases/545/adducted-thumbs-dundar-type owl:Class CHEBI:39144 biolink:NamedThing Lewis base A molecular entity able to provide a pair of electrons and thus capable of forming a covalent bond with an electron-pair acceptor (Lewis acid), thereby producing a Lewis adduct. tmpaxzxjjyw_mondo_relaxed.owl Lewis-Base|electron donor|donneur d'une paire d'electrons|base de Lewis|Lewis base owl:Class CHEBI:22695 biolink:NamedThing base A molecular entity having an available pair of electrons capable of forming a covalent bond with a hydron (Bronsted base) or with the vacant orbital of some other molecular entity (Lewis base). tmpaxzxjjyw_mondo_relaxed.owl Base1|bases|Nucleobase|Base|Base2|Basen|base owl:Class HGNC:40038 biolink:NamedThing PET100 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013582 biolink:NamedThing mosaic variegated aneuploidy syndrome 2 Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene. tmpaxzxjjyw_mondo_relaxed.owl MOSAIC variegated aneuploidy syndrome 2|Mosaic variegated aneuploidy syndrome type 2|MVA2|mosaic variegated aneuploidy syndrome 2|mosaic variegated aneuploidy syndrome caused by mutation in CEP57|mosaic variegated aneuploidy syndrome type 2|CEP57 mosaic variegated aneuploidy syndrome Orphanet:1052|OMIM:614114|DOID:0080142|UMLS:C3279843 owl:Class GO:0015844 biolink:NamedThing monoamine transport The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071705 biolink:NamedThing nitrogen compound transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018924 biolink:NamedThing microphthalmia, Lenz type Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia Lenz type|syndromic microphthalmia type 1|MCOPS1|Lenz microphthamia syndrome|Lenz dysplasia|Lenz microphthalmia|MAA (formerly)|microphthalmia syndromic 1|microphthalmia or anophthalmos with associated anomalies (formerly) Orphanet:568|OMIM:300166|ICD10:Q11.2|OMIM:309800|GARD:0000087 Editors note: TODO check owl:Class CHEBI:38092 biolink:NamedThing cardenolide glycoside Any member of the class of cardenolides with glycosyl residues attached to position 3. tmpaxzxjjyw_mondo_relaxed.owl 5beta-cardenolide glycoside|5alpha-cardenolide glycoside owl:Class CHEBI:74634 biolink:NamedThing cardenolides Any steroid lactone that is a C23 steroid with a five-membered lactone ring at C-17 and its substituted derivatives. They form the aglycone constituents of cardiac glycosides. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010277 biolink:NamedThing syndromic X-linked intellectual disability Shashi type X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome. tmpaxzxjjyw_mondo_relaxed.owl X-linked intellectual disability Shashi type|syndromic X-linked intellectual disability type 11|MRXS11|SMRXS|intellectual disability X-linked syndromic 11|mental retardation, X-linked, syndromic 11|mental retardation X-linked Shashi type|intellectual disability, X-linked, syndromic 11, Shashi type|mental retardation X-linked syndromic 11|Shashi X-linked mental retardation syndrome|intellectual disability X-linked Shashi type|X-linked intellectual disability, Shashi type|intellectual disability, X-linked, Shashi type|mental retardation, X-linked, syndromic 11, Shashi type|Shashi X-linked intellectual disability syndrome|intellectual disability, X-linked, syndromic 11|X-linked mental retardation Shashi type|mental retardation, X-linked, Shashi type MESH:C537135|GARD:0004119|SCTID:718900002|Orphanet:85286|UMLS:C4305085|DOID:0060826|OMIM:300238|UMLS:C1846145|ICD10:Q87.8 owl:Class NCBITaxon:6202 biolink:NamedThing Taenia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6208 biolink:NamedThing Taeniidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032681 biolink:NamedThing encephalopathy, progressive, early-onset, with episodic rhabdomyolysis tmpaxzxjjyw_mondo_relaxed.owl PEERB|ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS OMIM:618331 owl:Class GO:0002581 biolink:NamedThing negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. tmpaxzxjjyw_mondo_relaxed.owl inhibition of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|down-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|downregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|down regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II owl:Class GO:0031641 biolink:NamedThing regulation of myelination Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:76807 biolink:NamedThing EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor An EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor that interferes with the action of any non-peptide linear amide C-N hydrolase (EC 3.5.1.*). tmpaxzxjjyw_mondo_relaxed.owl non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitors|non-peptide linear amide C-N hydrolase (EC 3.5.1.*) inhibitor|EC 3.5.1.* inhibitor|EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitors|EC 3.5.1.* inhibitors owl:Class CHEBI:76764 biolink:NamedThing EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase acting on C-N bonds, other than peptide bonds (EC 3.5.*.*). tmpaxzxjjyw_mondo_relaxed.owl EC 3.5.* inhibitor|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitors|EC 3.5.* inhibitors|EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitors|EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitors|EC 3.5.* (hydrolases acting on C-N bonds, other than peptide bonds) inhibitor|EC 3.5.* (hydrolase acting on non-peptide C-N bond) inhibitor owl:Class MONDO:0018237 biolink:NamedThing acrofacial dysostosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:364574|DOID:0060379|NCIT:C35795|UMLS:C1332140 owl:Class ENVO:00000019 biolink:NamedThing saline lake A lake whose water contains a considerable concentration of dissolved salts. tmpaxzxjjyw_mondo_relaxed.owl salt lake|salina|soda lake owl:Class ENVO:01001319 biolink:NamedThing saline water body A body of water which is primarily composed of saline water. tmpaxzxjjyw_mondo_relaxed.owl saline body of water owl:Class GO:0045605 biolink:NamedThing negative regulation of epidermal cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epidermal cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of epidermal cell differentiation|down regulation of epidermal cell differentiation|negative regulation of hypodermal cell differentiation|inhibition of epidermal cell differentiation|down-regulation of epidermal cell differentiation owl:Class GO:0045683 biolink:NamedThing negative regulation of epidermis development Any process that stops, prevents, or reduces the frequency, rate or extent of epidermis development. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of epidermis development|down regulation of epidermis development|negative regulation of epidermal development|downregulation of epidermis development|negative regulation of hypodermis development|inhibition of epidermis development owl:Class HGNC:10672 biolink:NamedThing CXCL12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010031 biolink:NamedThing 6th arch mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009494 biolink:NamedThing pharyngeal arch mesenchymal region tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011495 biolink:NamedThing Abnormal corneal epithelium morphology Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of corneal epithelium UMLS:C4023326 peter 2012-04-03T07:10:49Z human_phenotype owl:Class HP:0000481 biolink:NamedThing Abnormal cornea morphology Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the cornea|Corneal abnormalities|Corneal abnormality|Cornela disease UMLS:C4020889|UMLS:C1855670 HP:0007972|HP:0007771 human_phenotype owl:Class MONDO:0004707 biolink:NamedThing anal canal carcinoma in situ A carcinoma in situ involving a anal canal. tmpaxzxjjyw_mondo_relaxed.owl anal intraepithelial neoplasia grade III|stage 0 anal carcinoma in situ|stage 0 anal canal cancer aJCC v7|stage 0 anal canal cancer|anal carcinoma stage 0|stage 0 anal canal cancer aJCC v6 and v7|carcinoma in situ of anus|anal carcinoma in situ|stage 0 anal canal carcinoma|stage 0 anal carcinoma aJCC v6 and v7|stage 0 anal canal carcinoma aJCC v6 and v7|anal canal in situ carcinoma|stage 0 anal canal cancer aJCC v6|carcinoma in situ of anal canal UMLS:C2242854|UMLS:C0154064|SCTID:92531006|ICD9:230.6|DOID:9087|ICD9:230.5|NCIT:C7794 owl:Class MONDO:0004725 biolink:NamedThing rectum carcinoma in situ A in situ carcinoma that involves the rectum. tmpaxzxjjyw_mondo_relaxed.owl carcinoma in situ of the rectum|stage 0 rectal cancer aJCC v6|marked dysplasia of the rectum|severe rectal dysplasia|stage 0 rectal carcinoma|stage 0 carcinoma of the rectum|stage 0 rectal cancer aJCC v7|rectal carcinoma in situ|severe dysplasia of the rectum|carcinoma in situ of rectum|severe dysplasia of rectum|stage 0 carcinoma of rectum|marked rectal dysplasia|stage 0 rectal cancer aJCC v6 and v7|rectum in situ carcinoma|stage 0 rectal cancer|marked dysplasia of rectum|stage 0 rectum carcinoma UMLS:C0154062|NCIT:C4853|ICD10:D01.2|DOID:9174|SCTID:308879003|ICD9:230.4 owl:Class MONDO:0044324 biolink:NamedThing Al Kaissi syndrome Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}). tmpaxzxjjyw_mondo_relaxed.owl Growth retardation, spine malformation, dysmorphic facies, and developmental delay|AL KAISSI syndrome|ALKAS UMLS:CN502749|OMIM:617694 owl:Class FOODON:00002403 biolink:NamedThing food material Any substance that can be consumed by an organism to satisfy nutritional or other health needs, or to provide a social or organoleptic food experience tmpaxzxjjyw_mondo_relaxed.owl sustenance|nourishment|food|foodstuff owl:Class BFO:0000024 biolink:NamedThing fiat object tmpaxzxjjyw_mondo_relaxed.owl FiatObjectPart fiat-object-part BFO 2 Reference: Most examples of fiat object parts are associated with theoretically drawn divisions b is a fiat object part = Def. b is a material entity which is such that for all times t, if b exists at t then there is some object c such that b proper continuant_part of c at t and c is demarcated from the remainder of c by a two-dimensional continuant fiat boundary. (axiom label in BFO2 Reference: [027-004]) the FMA:regional parts of an intact human body.|or with divisions drawn by cognitive subjects for practical reasons, such as the division of a cake (before slicing) into (what will become) slices (and thus member parts of an object aggregate). However, this does not mean that fiat object parts are dependent for their existence on divisions or delineations effected by cognitive subjects. If, for example, it is correct to conceive geological layers of the Earth as fiat object parts of the Earth, then even though these layers were first delineated in recent times, still existed long before such delineation and what holds of these layers (for example that the oldest layers are also the lowest layers) did not begin to hold because of our acts of delineation.Treatment of material entity in BFOExamples viewed by some as problematic cases for the trichotomy of fiat object part, object, and object aggregate include: a mussel on (and attached to) a rock, a slime mold, a pizza, a cloud, a galaxy, a railway train with engine and multiple carriages, a clonal stand of quaking aspen, a bacterial community (biofilm), a broken femur. Note that, as Aristotle already clearly recognized, such problematic cases – which lie at or near the penumbra of instances defined by the categories in question – need not invalidate these categories. The existence of grey objects does not prove that there are not objects which are black and objects which are white; the existence of mules does not prove that there are not objects which are donkeys and objects which are horses. It does, however, show that the examples in question need to be addressed carefully in order to show how they can be fitted into the proposed scheme, for example by recognizing additional subdivisions [29|the division of the planet into hemispheres|the division of the brain into regions|the Western hemisphere of the Earth|the dorsal and ventral surfaces of the body|the upper and lower lobes of the left lung (forall (x) (if (FiatObjectPart x) (and (MaterialEntity x) (forall (t) (if (existsAt x t) (exists (y) (and (Object y) (properContinuantPartOfAt x y t)))))))) // axiom label in BFO2 CLIF: [027-004] owl:Class GO:0001763 biolink:NamedThing morphogenesis of a branching structure The process in which the anatomical structures of branches are generated and organized. A branch is a division or offshoot from a main stem. Examples in animals would include blood vessels, nerves, lymphatics and other endothelial or epithelial tubes. tmpaxzxjjyw_mondo_relaxed.owl branching morphogenesis owl:Class UBERON:0006246 biolink:NamedThing humerus pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015053 biolink:NamedThing humerus endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008832 biolink:NamedThing right atrial isomerism A visceral heterotaxy characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and may be associated with bilateral trilobed lungs, midline liver, asplenia and situs inversus affecting other organs that has material basis in homozygous mutation in the GDF1 gene on chromosome 19p12. tmpaxzxjjyw_mondo_relaxed.owl Vah, autosomal recessive|polysplenia syndrome|heterotaxy, Visceroatrial, autosomal recessive|right isomerism|right atrial isomerism|Polyasplenia|Ivemark syndrome|asplenia syndrome|right atrial isomerism (disease)|asplenia with cardiovascular anomalies|RAI|bilateral right-sidedness sequence|splenic agenesis syndrome right atrial isomerism (disease) ICD10:Q20.6|HP:0011536|OMIM:208530|GARD:0006795|DOID:0060856|MedDRA:10068335|Orphanet:97548 owl:Class MONDO:0011758 biolink:NamedThing Hurler syndrome Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. tmpaxzxjjyw_mondo_relaxed.owl Hurler syndrome|MPS I H|mucopolysaccharidosis type 1H|mucopolysaccharidosis IH|MPS1-H|mucopolysaccharidosis type IH|MPSIH|MPS1H|Hurler disease DOID:0111390|ICD10:E76.0|NCIT:C61261|OMIM:607014|Orphanet:579|Orphanet:93473|GARD:0012559 owl:Class MONDO:0016341 biolink:NamedThing lysosomal disease with restrictive cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:217638|UMLS:CN201171 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: lysosomal storage disease' MONDO_0002561 owl:Class HGNC:4624 biolink:NamedThing GSS tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045117 biolink:NamedThing azole transmembrane transport The directed movement of azoles, heterocyclic compounds found in many biologically important substances, across a lipid bilayer, across a membrane. tmpaxzxjjyw_mondo_relaxed.owl azole transport owl:Class UBERON:0004940 biolink:NamedThing submucosa of common hepatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004938 biolink:NamedThing submucosa of biliary tree tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000407 biolink:NamedThing Sensorineural hearing impairment A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. tmpaxzxjjyw_mondo_relaxed.owl Hearing loss, sensorineural|Sensorineural deafness|Sensorineural hearing loss SNOMEDCT_US:60700002|UMLS:C0018784|MSH:D006319 Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). HP:0001916|HP:0008613|HP:0008538|HP:0008553|HP:0008614|HP:0008611|HP:0008576|HP:0008565|HP:0000374|HP:0001753 human_phenotype owl:Class HP:0011389 biolink:NamedThing Functional abnormality of the inner ear An abnormality of the function of the inner ear. tmpaxzxjjyw_mondo_relaxed.owl Functional abnormality of the inner ear UMLS:C4023382 The inner ear comprises the cochlea, three semicircular canals and the vestibule (labyrinth), and is directly responsible for hearing. Additionally, the vestibule and semicircular canals function to maintain balance or equilibrium. hecht 2012-03-09T04:58:30Z human_phenotype owl:Class MONDO:0004869 biolink:NamedThing pelvic varices A varicose disease that involves the pelvic region of trunk. tmpaxzxjjyw_mondo_relaxed.owl varicose disease of pelvic region of trunk|pelvic region of trunk varicose disease SCTID:17406005|ICD10:I86.2|DOID:9742|UMLS:C0155795|ICD9:456.5 owl:Class MONDO:0008638 biolink:NamedThing varicose disease A vascular disease characterized by the presence of enlarged and tortuous veins. tmpaxzxjjyw_mondo_relaxed.owl Venous ectasia|Venous varices|varix|varices|varicose veins ICD9:454.9|MESH:D014648|ICD9:456.8|NCIT:C35114|UMLS:C0042345|DOID:799|OMIM:192200|SCTID:128060009|ICD10:I83.90 owl:Class MONDO:0005688 biolink:NamedThing campylobacteriosis Infections with bacteria of the genus campylobacter. tmpaxzxjjyw_mondo_relaxed.owl EFO:0007190|UMLS:C0006818|SCTID:86500004|DOID:13622|MESH:D002169 owl:Class MONDO:0000598 biolink:NamedThing aphasia A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060046|ICD10:R47.01 owl:Class MONDO:0003857 biolink:NamedThing adult intracranial malignant hemangiopericytoma A solitary fibrous tumor/hemangiopericytoma, grade 3 that arises from the brain and occurs in the adult population. tmpaxzxjjyw_mondo_relaxed.owl malignant adult intracranial hemangiopericytoma|adult intracranial solitary fibrous tumor/hemangiopericytoma, grade 3|adult malignant intracranial hemangiopericytoma|central nervous system solitary fibrous tumor/hemangiopericytoma, grade 3|adult intracranial anaplastic hemangiopericytoma DOID:6333|UMLS:C1334558|UMLS:C4331858|NCIT:C9183 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0037740 biolink:NamedThing malignant central nervous system mesenchymal, non-meningothelial neoplasm A metastasizing mesenchymal, non-meningothelial neoplasm that arises from the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl malignant soft tissue neoplasm of CNS|soft tissue cancer of the central nervous system|malignant soft tissue tumor of the central nervous system|malignant central nervous system soft tissue tumor|malignant central nervous system soft tissue neoplasm|central nervous system mesenchymal non-meningothelial tumor, malignant|malignant soft tissue neoplasm of the central nervous system|malignant soft tissue neoplasm of the CNS|malignant central nervous system mesenchymal non-meningothelial tumor|malignant central nervous system mesenchymal, non-meningothelial tumor|soft tissue cancer of central nervous system|malignant soft tissue tumor of the CNS|malignant CNS soft tissue neoplasm|malignant CNS soft tissue tumor|malignant soft tissue tumor of CNS|malignant soft tissue neoplasm of central nervous system|malignant central nervous system mesenchymal, non-meningothelial neoplasm|malignant soft tissue tumor of central nervous system UMLS:C1334571|NCIT:C6758 owl:Class NCBITaxon:1206795 biolink:NamedThing Lophotrochozoa tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2697495 biolink:NamedThing Spiralia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:35881 biolink:NamedThing pnictogen hydride tmpaxzxjjyw_mondo_relaxed.owl pnictogen hydrides|pnictogen hydride owl:Class CHEBI:33242 biolink:NamedThing inorganic hydride tmpaxzxjjyw_mondo_relaxed.owl inorganic hydrides owl:Class MONDO:0014184 biolink:NamedThing specific language impairment 5 A communication disorder that involves the processing of linguistic information. tmpaxzxjjyw_mondo_relaxed.owl specific language impairment type 5|SLI5|specific language impairment 5 OMIM:615432|UMLS:C3809483 owl:Class MONDO:0000724 biolink:NamedThing specific language impairment A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. tmpaxzxjjyw_mondo_relaxed.owl language impairment (disease) OMIM:615432|OMIM:606712|OMIM:606711|OMIM:607134|OMIMPS:606711|Orphanet:458713|OMIM:612514|DOID:0060244|UMLS:C0454651 owl:Class MONDO:0021578 biolink:NamedThing sternal neoplasm A benign or malignant neoplasm that affects the sternum. tmpaxzxjjyw_mondo_relaxed.owl sternum neoplasm|neoplasm of sternum (disease)|sternum neoplasm (disease)|tumor of sternum|neoplasm of sternum (disorder)|neoplasm of sternum|tumor of the sternum|sternal neoplasm|sternum tumor|sternal tumor|neoplasm of the sternum ICD9:239.2|SCTID:126559003|NCIT:C6730|UMLS:C1290244 owl:Class MONDO:0005172 biolink:NamedThing skeletal system disorder A disease involving the skeletal system. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of skeletal system|disease of skeletal system|skeletal system disease|disease of bone and/or joint|osteoarthropathy|disorder of skeletal system|skeletal system disease or disorder UMLS:C0263661|EFO:0002461|SCTID:88230002 owl:Class MONDO:0002495 biolink:NamedThing colon signet ring cell adenocarcinoma An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells. tmpaxzxjjyw_mondo_relaxed.owl colonic signet Ring cell adenocarcinoma|colon signet Ring cell adenocarcinoma|colon signet ring adenocarcinoma|signet Ring cell adenocarcinoma of colon|signet Ring cell colon adenocarcinoma|colonic signet Ring adenocarcinoma|signet Ring cell adenocarcinoma of the colon NCIT:C7967|UMLS:C1707436|DOID:3033 owl:Class MONDO:0005092 biolink:NamedThing signet ring cell carcinoma A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland. tmpaxzxjjyw_mondo_relaxed.owl signet ring cell carcinoma (morphologic abnormality)|signet ring carcinoma|signet ring cell carcinoma|signet ring carcinoma NOS (morphologic abnormality)|signet ring cell adenocarcinoma ICDO:8490/3|UMLS:C0206696|EFO:0000698|NCIT:C3774|DOID:3493|MESH:D018279 owl:Class MONDO:0014109 biolink:NamedThing NGLY1-deficiency A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities. tmpaxzxjjyw_mondo_relaxed.owl CDG IV, formerly|deficiency of N-glycanase 1|congenital disorder of deglycosylation;CDDG|CDG IV|NGLY1 deficiency|NGLY1-deficiency|congenital disorder of deglycosylation|congenital disorder of glycosylation type IV|congenital disorder of glycosylation, type IV, formerly|CDDG|congenital disorder of glycosylation, type IV|NGLY1-CDDG|alacrimia - choreoathetosis - liver dysfunction syndrome|congenital disorder of glycosylation type IV; CDG1V UMLS:C3808991|OMIM:615273|Orphanet:404454|NCIT:C126746|GARD:0012315|ICD10:E77.8|DOID:0060728|SCTID:768846004 owl:Class MONDO:0008310 biolink:NamedThing Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat). tmpaxzxjjyw_mondo_relaxed.owl Hutchinson Gilford progeria syndrome|premature senility syndrome|Hutchinson Gilford syndrome|HGPS|Hutchinson-Gilford disease|progeria syndrome, childhood-onset|Hutchinson-Gilford progeria syndrome|progeria UMLS:C0033300|GARD:0007467|ICD10:E34.8|SCTID:238870004|NCIT:C34951|Orphanet:740|OMIM:176670|MESH:D011371|MedDRA:10036794|ICD9:259.8|UMLS:CN236401|DOID:3911 Editor note: check wether subset prototype_pattern is appropriate https://rarediseases.info.nih.gov/diseases/7467/progeria owl:Class MONDO:0023540 biolink:NamedThing Kashani-Strom-Utley syndrome tmpaxzxjjyw_mondo_relaxed.owl Kashani Strom Utley syndrome|pulmonary aortic stenosis obstructive uropathy|hypoplastic pulmonary arteries and aorta with obstructive uropathy UMLS:C2931392|Orphanet:1137|MESH:C537010|GARD:0000191 MONDO:0023539 owl:Class MONDO:0003876 biolink:NamedThing eyelid carcinoma A carcinoma that arises from epithelial cells of the eyelid. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of eyelid|eyelid carcinoma|carcinoma of the eyelid NCIT:C6078|UMLS:C0920196|DOID:6425 owl:Class MONDO:0001724 biolink:NamedThing supraglottis cancer A malignant neoplasm that affects the supraglottic area of the larynx. The vast majority of cases are squamous cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the supraglottis|malignant tumor of the supraglottis|cancer of supraglottic part of larynx|malignant supraglottic neoplasm|malignant neoplasm of supraglottis|supraglottic part of larynx cancer|malignant supraglottic part of larynx neoplasm|malignant neoplasm of supraglottic part of larynx|malignant tumor of supraglottis|Ca larynx - supraglottis|malignant neoplasm of extrinsic larynx|malignant supraglottis tumor|malignant supraglottis neoplasm|malignant supraglottic tumor UMLS:C0153484|NCIT:C3545|DOID:13476|ICD9:161.1|ICD10:C32.1|SCTID:187842004 supraglottis owl:Class MONDO:0002352 biolink:NamedThing larynx cancer A primary or metastatic malignant neoplasm involving the larynx. The majority are carcinomas. tmpaxzxjjyw_mondo_relaxed.owl malignant laryngeal tumor|malignant larynx tumor|malignant tumor of the larynx|larynx cancer|cancer of larynx|malignant neoplasm of the larynx|malignant tumor of larynx|malignant laryngeal neoplasm|malignant larynx neoplasm|malignant neoplasm of larynx ICD10:C32.9|MESH:D007822|ICD10:C32|ICD9:161|ICD9:161.9|NCIT:C7484|UMLS:C0007107|ICD9:161.8|EFO:1000354|DOID:2596|SCTID:363429002 owl:Class MONDO:0011772 biolink:NamedThing B4GALT1-CDG B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase. tmpaxzxjjyw_mondo_relaxed.owl CDG 2D|CDG2D|Beta-1,4-galactosyltransferase deficiency|congenital disorder of glycosylation type 2d|CDG-IId|CDG IId|congenital disorder of glycosylation type IId|B4GALT1-CDG|B4GALT1-CDG (CDG-IId)|congenital disorder of glycosylation, type IId|carbohydrate deficient glycoprotein syndrome type IId|CDG syndrome type IId UMLS:C2931009|SCTID:725587007|Orphanet:79332|ICD10:E77.8|DOID:0070256|GARD:0009841|OMIM:607091|MESH:C535753 owl:Class GO:0060294 biolink:NamedThing cilium movement involved in cell motility Movement of cilia mediated by motor proteins that contributes to the movement of a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0003341 biolink:NamedThing cilium movement The directed, self-propelled movement of a cilium. tmpaxzxjjyw_mondo_relaxed.owl microtubule-based flagellum movement|cilium beating|flagellum movement|flagellar motility|ciliary motility|flagellar movement owl:Class MONDO:0001571 biolink:NamedThing gynecomastia Development of breast tissue in males. tmpaxzxjjyw_mondo_relaxed.owl male organism hypertrophy of breast|hypertrophy of breast of male organism SCTID:4754008|ICD10:N62|HP:0000771|MESH:D006177|NCIT:C3073|UMLS:C0018418|DOID:12698 owl:Class MONDO:0002145 biolink:NamedThing difference of sexual differentiation A congenital disorder characterized by abnormalities in the development of the sexual characteristics. tmpaxzxjjyw_mondo_relaxed.owl sex differentiation disorder|conditions affecting reproductive development|disorders of sex development (DSD)|intersex conditions|differences of sex development|disorders of sex development|disorder of sex differentiation|CARD|sex differentiation disease|DSD|intersex|disorder of sex development|sexual differentiation disorder|disorder of sexual differentiation NCIT:C103186|UMLS:CN757797|Orphanet:90771|DOID:1923|MedDRA:10070597|SCTID:39179006|GTR:AN1172969|MESH:D012734 https://github.com/monarch-initiative/mondo/issues/4091 owl:Class MONDO:0014789 biolink:NamedThing CCDC115-CDG tmpaxzxjjyw_mondo_relaxed.owl CDG-IIo|congenital disorder of glycosylation type 2o|CDG2O|carbohydrate deficient glycoprotein syndrome type IIo|CDG syndrome type IIo|congenital disorder of glycosylation, type IIo|congenital disorder of glycosylation type IIo|CDG IIo OMIM:616828|Orphanet:468684|DOID:0070267 owl:Class MONDO:0018861 biolink:NamedThing Zellweger-like syndrome without peroxisomal anomalies An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl AHN-Lerman-Sagie syndrome UMLS:CN205183|Orphanet:50812|UMLS:C4305104|SCTID:718880003|ICD10:Q87.8 owl:Class MONDO:0019105 biolink:NamedThing renal nutcracker syndrome A rare, syndromic renal disease characterized by the entrapment of left renal vein (LRV) between the superior mesenteric artery (SMA) and the abdominal aorta, resulting in increased luminal pressure, renal hilar varices, hematuria and, at the microscopic level, rupture of thin-walled veins into the collecting system in renal fornices. tmpaxzxjjyw_mondo_relaxed.owl left renal vein entrapment syndrome|nutcracker syndrome|RNS GARD:0011971|SCTID:717267005|UMLS:C3178770|Orphanet:71273|MESH:D059228|EFO:1001838 owl:Class UBERON:0004673 biolink:NamedThing trigeminal nerve root tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002211 biolink:NamedThing nerve root tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009223 biolink:NamedThing hypogonadotropic hypogonadism 23 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the LHB gene. tmpaxzxjjyw_mondo_relaxed.owl Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency|HH23|46,XY disorder of sex development due to LHB deficiency|hypogonadotropic hypogonadism 23 without anosmia|eunuchoidism with spermatogenesis, normal FSH and low or normal interstitial cell-stimulating hormone (ICSH)|46,XY DSD due to luteinizing hormone subunit beta deficiency|LHB hypogonadotropic hypogonadism|46,XY DSD due to LHB deficiency|Leydig cell hypoplasia due to LHB deficiency|46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency|Pasqualini syndrome|hypogonadotropic hypogonadism caused by mutation in LHB|fertile eunuch syndrome Orphanet:325448|GARD:0010127|SCTID:8829008|ICD10:Q56.1|ICD9:253.4|OMIM:228300|UMLS:C0271582|MESH:C537919|DOID:0090091 owl:Class MONDO:0019155 biolink:NamedThing Leydig cell hypoplasia A condition in males that affects sexual development. It is characterized by underdevelopment of the Leydig cells, which are cells in the testes that secrete male sex hormones (androgens) and are important for male sexual development. Individuals with LCH have a typical male genetic make-up (46, XY), but due to lowered levels of androgens, may have a range of genital (reproductive organ) differences. Individuals with LCH may have a small penis (micropenis),the opening of the urethra may be located on the underside of the penis (hypospadias), or the scrotum may be divided into two halves (bifid scrotum). Given these differences in development, the external genitalia may not appear clearly male or female (ambiguous genitalia). Some individuals with LCH can have female external genitalia and small testes that have not descended and are located in the pelvis, abdomen, or groin. This may be referred to as type 1, whereas less severe cases might be called type 2. LCH is inherited in an autosomal recessive manner and is caused by mutations in the LHCGR gene.Although there is no specific treatment or cure for LCH, there may be ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. tmpaxzxjjyw_mondo_relaxed.owl 46,XY DSD due to LH resistance or LHB deficiency|46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|46,XY disorder of sex development due to LH resistance or LHB deficiency|46,XY disorder of sex development due to LH defects|Male hypergonadotropic hypogonadism due to LHCGR defect|Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency|Leydig cell agenesis|Male pseudohermaphroditism due to LH resistance or LHB deficiency|LH resistance due to LH receptor deactivation MedDRA:10024406|OMIM:238320|Orphanet:755|ICD10:Q56.1|GARD:0003244 owl:Class MONDO:0011397 biolink:NamedThing autosomal dominant cerebellar ataxia, deafness and narcolepsy Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia, deafness, and narcolepsy, autosomal dominant|autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome|autosomal dominant cerebellar ataxia, deafness, and narcolepsy|autosomal dominant cerebellar ataxia, deafness and narcolepsy|ADCADN|ADCA-DN syndrome|ADCA-DN Orphanet:314404|UMLS:CN203753|DOID:0050968|GARD:0012372|OMIM:604121 https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy owl:Class CHEBI:67012 biolink:NamedThing L-dopa(1-) A L-alpha-amino acid anion which is the conjugate base of L-dopa, obtained by deprotonation of the carboxy group: major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl (2S)-2-amino-3-(3,4-dihydroxyphenyl)propanoate|L-dopa carboxylate owl:Class CHEBI:59814 biolink:NamedThing L-alpha-amino acid anion Conjugate base of an L-alpha-amino acid arising from deprotonation of the C-1 carboxy group. tmpaxzxjjyw_mondo_relaxed.owl L-alpha-amino carboxylate owl:Class MONDO:0001315 biolink:NamedThing neurocirculatory asthenia A clinical syndrome characterized by palpitation, shortness of breath, labored breathing, subjective complaints of effort and discomfort, all following slight physical exertion. Other symptoms may be dizziness, tremulousness, sweating, and insomnia. Neurocirculatory asthenia is most typically seen as a form of anxiety disorder. tmpaxzxjjyw_mondo_relaxed.owl cardiovascular malfunction arising from mental factors|Da Costa's syndrome|Krishaber's disease|cardiovascular neurosis DOID:11569|SCTID:191962000|MESH:D009449|ICD9:306.2 owl:Class MONDO:0003117 biolink:NamedThing somatoform disorder A category of psychiatric disorders which are characterized by the presence of physical symptoms that suggest a medical condition but are not fully explained by any known medical reasons. tmpaxzxjjyw_mondo_relaxed.owl psychophysiologic disorder|physiological malfunction arising from mental factor|psychosomatic disorder|somatoform disorder SCTID:31297008|MESH:D013001|DOID:4737|ICD10:F45.0|ICD9:306.8|ICD10:F45|ICD10:F45.9|ICD9:300.8|NCIT:C34956|ICD9:300.81|SCTID:397923000 owl:Class MONDO:0041284 biolink:NamedThing primary motor cortex epilepsy A epilepsy that involves the primary motor cortex. tmpaxzxjjyw_mondo_relaxed.owl Jacksonian epilepsy|primary motor cortex epilepsy|epilepsy of primary motor cortex|motor cortex epilepsy UMLS:C0234978|SCTID:267592003 Editor note: TODO. Request Jacksonian seizures from HP? owl:Class MONDO:0044996 biolink:NamedThing cerebral cortex disorder A disease or disorder that involves the cerebral cortex. tmpaxzxjjyw_mondo_relaxed.owl cerebral cortex disease|cerebral cortex disease or disorder|disorder of cerebral cortex|disease or disorder of cerebral cortex|disease of cerebral cortex SCTID:128128003|UMLS:C1263847 owl:Class GO:0051101 biolink:NamedThing regulation of DNA binding Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005192 biolink:NamedThing exocrine pancreatic carcinoma A carcinoma that arises from epithelial cells of the exocrine pancreas tmpaxzxjjyw_mondo_relaxed.owl pancreatic carcinoma, familial|exocrine pancreas carcinoma|pancreatic cancer|carcinoma of the pancreas|pancreatic carcinoma|pancreatic cancer (not islets)|pancreas carcinoma|cancer of the pancreas|cancer of pancreas|carcinoma of pancreas|exocrine cancer|carcinoma of exocrine pancreas|pancreas cancer DOID:4905|SCTID:372142002|UMLS:C0235974|OMIM:260350|NCIT:C3850|EFO:0002618 owl:Class MONDO:0008436 biolink:NamedThing Sneddon syndrome Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa. tmpaxzxjjyw_mondo_relaxed.owl livedo reticularis-cerebrovascular accident syndrome|cerebro-vascular lesions and livedo reticularis|Sneddon's syndrome|livedo reticularis and cerebrovascular accidents|livedo racemosa and cerebrovascular accidents|Ehrmann-Sneddon syndrome|idiopathic livedo reticularis with systemic involvement|livedo racemosa-cerebrovascular accident syndrome|Sneddon syndrome ICD10:I77.8|UMLS:C0282492|GARD:0007664|EFO:1001186|SCTID:238776001|DOID:13096|MedDRA:10053841|OMIM:182410|Orphanet:820|MESH:D018860 https://rarediseases.info.nih.gov/diseases/7664/sneddon-syndrome owl:Class GO:0042737 biolink:NamedThing drug catabolic process The chemical reactions and pathways resulting in the breakdown of a drug, a substance used in the diagnosis, treatment or prevention of a disease. tmpaxzxjjyw_mondo_relaxed.owl drug degradation|drug breakdown|drug catabolism owl:Class CL:0010012 biolink:NamedThing cerebral cortex neuron A neuron that is part_of a cerebral cortex. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008681 biolink:NamedThing WAGR syndrome WAGR syndrome (Wilms tumor - aniridia - genitourinary anomalies - intellectual disability mental retardation) is a rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor. tmpaxzxjjyw_mondo_relaxed.owl 11p monosomy|chromosome 11P13 deletion syndrome|Wilms tumor-aniridia-genitourinary anomalies-mental retardation syndrome|AGR triad|WAGR Complex|chromosome 11p13 deletion syndrome|monosomy 11p|partial monosomy 11p|Del(11)(p13)|monosomy 11p13|Wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome|Wilms tumor-aniridia-gonadoblastoma-intellectual disability syndrome|deletion 11p|Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability syndrome|Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome|11p partial monosomy syndrome|WAGR|deletion 11p13|Wilms tumor, aniridia, genitourinary anomalies, mental retardation syndrome|Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability syndrome|11p deletion syndrome|11p deletion|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome|WAGR syndrome|chromosome 11p deletion syndrome|chromosome 11p deletion GARD:0005528|NCIT:C3718|UMLS:C0206115|MESH:D017624|ICD10:Q87.8|GARD:0001732|UMLS:C2931803|DOID:14515|Orphanet:893|OMIM:194072|OMIM:612469|SCTID:715215007 https://rarediseases.info.nih.gov/diseases/5528/wagr-syndrome owl:Class MONDO:0006520 biolink:NamedThing Achenbach syndrome A rare disorder which affects the volar surfaces of fingers. Clinical signs include recurrent, spontaneous or post-traumatic bruising of fingers. The clinical course of the resultant hematoma usually follows a pattern of resolution within days. tmpaxzxjjyw_mondo_relaxed.owl paroxysmal hematoma of the finger|Achenbach syndrome NCIT:C35467|PMID:22915534|EFO:1000661|SCTID:238824006|DOID:6687 owl:Class GO:0090665 biolink:NamedThing glycoprotein complex A protein complex containing at least one glycosylated protein, may be held together by both covalent and noncovalent bonds. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003463 biolink:NamedThing trunk bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2364 biolink:NamedThing CRLF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006968 biolink:NamedThing shoulder impingement syndrome Compression of the rotator cuff tendons and subacromial bursa between the humeral head and structures that make up the coracoacromial arch and the humeral tuberosities. This condition is associated with subacromial bursitis and rotator cuff (largely supraspinatus) and bicipital tendon inflammation, with or without degenerative changes in the tendon. Pain that is most severe when the arm is abducted in an arc between 40 and 120 degrees, sometimes associated with tears in the rotator cuff, is the chief symptom. (From Jablonski's Dictionary of Syndromes and Eponymic Diseases, 2d ed) tmpaxzxjjyw_mondo_relaxed.owl Impingement syndrome of shoulder region|subacromial impingement|shoulder impingement syndrome (disorder) [ambiguous] DOID:14276|EFO:1001178|MESH:D019534|ICD9:726.2|ICD10:M75.4|SCTID:202849001|UMLS:C0376685|MedDRA:10049039 owl:Class UBERON:0006526 biolink:NamedThing right lung alveolar system tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000528 biolink:NamedThing Anophthalmia Absence of the globe or eyeball. tmpaxzxjjyw_mondo_relaxed.owl Ocular absence|Missing globe of eye|No globe of eye|Anophthalmia, clinical|Missing eyeball|Absence of globes of eyes|Failure of development of eyeball|Clinical anophthalmia, unilateral/bilateral|Absence of eyeballs|No eyeball SNOMEDCT_US:204099004|MSH:D000853|SNOMEDCT_US:7183006|Fyler:4864|UMLS:C0003119 HP:0001485|HP:0007664 human_phenotype owl:Class HP:0100887 biolink:NamedThing Abnormality of globe size An abnormality in the size of the ocular globe (eyeball). tmpaxzxjjyw_mondo_relaxed.owl Eye size difference|Abnormality of eyeball size UMLS:C4021945 doelkens 2011-12-13T04:25:29Z HP:0010725 human_phenotype owl:Class UBERON:0005874 biolink:NamedThing 3rd arch pharyngeal cleft tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005879 biolink:NamedThing pharyngeal cleft tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043226 biolink:NamedThing postpartum amenorrhea-galactorrhea syndrome tmpaxzxjjyw_mondo_relaxed.owl disease, Frommel|persistent postpartum amenorrhea-galactorrhea syndrome|disease, Frommel's|postpartum amenorrhea-galactorrhea syndrome|Frommel's disease|Chiari-frommel syndrome|postpartum amenorrhoea-galactorrhea syndrome|Chiari Frommel syndrome|Frommel disease|syndrome, Chiari-Frommel EFO:1001291|MESH:D002640|GARD:0006037|SCTID:85039006 owl:Class MONDO:0014250 biolink:NamedThing familial hyperprolactinemia Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple affected family members. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual disfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. tmpaxzxjjyw_mondo_relaxed.owl hereditary hyperprolactinemia (disease)|familial isolated prolactin receptor deficiency|hyperprolactinemia|familial hyperprolactinemia|HPRL Orphanet:397685|ICD10:E22.1|OMIM:615555|SCTID:763715007 owl:Class MONDO:0004802 biolink:NamedThing pulmonary eosinophilia A condition characterized by infiltration of the lung with eosinophils due to inflammation or other disease processes. Major eosinophilic lung diseases are the eosinophilic pneumonias caused by infections, allergens, or toxic agents. tmpaxzxjjyw_mondo_relaxed.owl MESH:D011657|SCTID:367542003|UMLS:C0034068|DOID:9498|ICD9:518.3 owl:Class UBERON:3000972 biolink:NamedThing head external integument structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009713 biolink:NamedThing catechol-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of catechol-containing compounds. Catechol is a compound containing a pyrocatechol nucleus or substituent. tmpaxzxjjyw_mondo_relaxed.owl catechol formation|catechol anabolism|catechol biosynthetic process|catechol biosynthesis|catechol synthesis owl:Class GO:0046189 biolink:NamedThing phenol-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. tmpaxzxjjyw_mondo_relaxed.owl phenol-containing compound anabolism|phenol-containing compound formation|phenol-containing compound synthesis|phenol-containing compound biosynthesis owl:Class MONDO:0007082 biolink:NamedThing alopecia areata 1 tmpaxzxjjyw_mondo_relaxed.owl AA1|alopecia universalis|alopecia areata 1 Orphanet:701|UMLS:C0263505|UMLS:C1863094|Orphanet:700|OMIM:104000 owl:Class MONDO:0000005 biolink:NamedThing alopecia, isolated tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:203655 owl:Class MONDO:0008094 biolink:NamedThing familial multiple nevi flammei A congenital vascular malformation in the skin (birthmark) characterized by the presence of dilated capillaries. The affected area of the skin is flat and reddish-purplish in color. tmpaxzxjjyw_mondo_relaxed.owl Salmon patch Nevus|CMC|capillary malformations, congenital|port wine stain of the skin|capillary malformations|port wine stain|port-wine stain|port-wine stain familial multiple|port-wine stain of skin|port wine stain of skin|familial multiple port-wine stains|port wine type hemangioma|Nevus flammeus|nevi flammei, familial multiple|port wine Nevus|port wine birthmark GARD:0003986|ICD10:Q82.5|UMLS:CN205384|Orphanet:624|MedDRA:10067193|UMLS:C0235752|SCTID:416377005|DOID:0111529|NCIT:C3840|OMIM:163000 owl:Class MONDO:0004605 biolink:NamedThing chronic ulcer of skin tmpaxzxjjyw_mondo_relaxed.owl callous ulcer (morphologic abnormality)|indolent ulcer|callous ulcer|indolent ulcer (morphologic abnormality) ICD9:707.9|ICD10:L98.4|ICD9:707|EFO:0007066|ICD9:707.8|DOID:8549|UMLS:C0157738|SCTID:19429009 owl:Class GO:0055085 biolink:NamedThing transmembrane transport The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl ATP hydrolysis coupled transmembrane transport|membrane transport owl:Class MONDO:0001495 biolink:NamedThing hematocele of tunica vaginalis testis Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the testis leading to testicular hematocele or scrotal hematocele. tmpaxzxjjyw_mondo_relaxed.owl male hematocele|hematocele UMLS:C1456400|DOID:12332|MESH:D006398|SCTID:66259004|UMLS:C0018931 owl:Class MONDO:0018808 biolink:NamedThing Caroli syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:480520|UMLS:CN776859 owl:Class MONDO:0012871 biolink:NamedThing Jervell and Lange-Nielsen syndrome 2 Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNE1 gene. tmpaxzxjjyw_mondo_relaxed.owl Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1|KCNE1 Jervell and Lange-Nielsen syndrome|Jervell and Lange-Nielsen syndrome 2|Jervell and Lange-Nielsen syndrome type 2|JLNS2 GARD:0010364|Orphanet:768|MESH:C567343|OMIM:612347|Orphanet:90647 https://rarediseases.info.nih.gov/diseases/10364/jervell-and-lange-nielsen-syndrome-2 owl:Class MONDO:0013372 biolink:NamedThing long QT syndrome 5 Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene. tmpaxzxjjyw_mondo_relaxed.owl long QT syndrome 5, acquired, susceptibility to|long QT syndrome 5|KCNE1 long QT syndrome|long QT syndrome caused by mutation in KCNE1|long QT syndrome 2/5, digenic|LQT5|long QT syndrome type 5 GARD:0010433|Orphanet:101016|DOID:0110647|ICD10:I45.8|Orphanet:768|UMLS:C1867904|HGNC:6240|OMIM:613695|MESH:C566766 https://rarediseases.info.nih.gov/diseases/10433/long-qt-syndrome-5 owl:Class MONDO:0015448 biolink:NamedThing mitochondrial complex III deficiency Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms). tmpaxzxjjyw_mondo_relaxed.owl isolated complex III deficiency|isolated coenzyme Q-cytochrome C reductase deficiency|isolated mitochondrial respiratory chain complex III deficiency|isolated ubiquinone-cytochrome C reductase deficiency|isolated CoQ-cytochrome C reductase deficiency OMIM:615159|OMIM:616111|ICD10:G71.3|OMIM:615838|OMIM:615160|DOID:0111139|OMIM:124000|OMIM:615824|OMIM:615158|Orphanet:1460|OMIM:615157|OMIM:615453 Editor note: check this; isolated in ORDO owl:Class MONDO:0016805 biolink:NamedThing isolated oxidative phosphorylation complex disorder tmpaxzxjjyw_mondo_relaxed.owl isolated respiratory chain complex disorder UMLS:CN227005|Orphanet:254846 owl:Class MONDO:0004567 biolink:NamedThing ileus Decrease in peristalsis in the absence of a mechanical bowel obstruction. tmpaxzxjjyw_mondo_relaxed.owl ileus of intestine SCTID:710572000|NCIT:C37979|DOID:8440|MESH:D045823|UMLS:C1258215|SCTID:81060008 owl:Class MONDO:0004565 biolink:NamedThing intestinal obstruction Blockage of the normal flow of the intestinal contents within the bowel. tmpaxzxjjyw_mondo_relaxed.owl bowel obstruction DOID:8437|ICD9:560.9|ICD10:K56.69|NCIT:C9175|UMLS:C0021843|MESH:D007415|ICD10:K56.60|SCTID:81060008|ICD9:560.89 owl:Class MONDO:0032887 biolink:NamedThing neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity tmpaxzxjjyw_mondo_relaxed.owl Vandervore-Schot Syndrome|NEDMCMS|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY OMIM:618730 owl:Class GO:0042068 biolink:NamedThing regulation of pteridine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pteridine. tmpaxzxjjyw_mondo_relaxed.owl regulation of pteridine metabolism owl:Class MONDO:0019323 biolink:NamedThing pemphigus erythematosus Pemphigus erythematosus is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed. tmpaxzxjjyw_mondo_relaxed.owl Senear-Usher syndrome|seborrheic pemphigus EFO:0008603|UMLS:C0263312|ICD10:L10.4|Orphanet:79480|SCTID:36739006|MedDRA:10058917 owl:Class MONDO:0018745 biolink:NamedThing superficial pemphigus Pemphigus is a group of chronic autoimmune skin diseases characterised by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, one of which is superficial pemphigus, including the seborrheic, erythematosus, foliaceous and herpetiform variants. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:46485|ICD10:L10.3|ICD10:L10.2|ICD10:L10.4|UMLS:CN227541 owl:Class GO:0001569 biolink:NamedThing branching involved in blood vessel morphogenesis The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system. tmpaxzxjjyw_mondo_relaxed.owl patterning of blood vessels owl:Class GO:0048754 biolink:NamedThing branching morphogenesis of an epithelial tube The process in which the anatomical structures of branches in an epithelial tube are generated and organized. A tube is a long hollow cylinder. tmpaxzxjjyw_mondo_relaxed.owl tubulogenesis owl:Class ENVO:01001276 biolink:NamedThing water ice layer A solid layer which is primarily composed of some water-based ice. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003926 biolink:NamedThing neurilemmoma of the pleura A schwannoma that involves the pleura. tmpaxzxjjyw_mondo_relaxed.owl pleura schwannoma|neurilemmoma of pleura|pleural neurilemmoma|pleural schwannoma|schwannoma of pleura|schwannoma of the pleura DOID:6564|UMLS:C1335435|NCIT:C5418 owl:Class MONDO:0004820 biolink:NamedThing peripheral nerve schwannoma A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported. tmpaxzxjjyw_mondo_relaxed.owl peripheral nerve schwannoma UMLS:C1519001|NCIT:C41430|DOID:956 Editor note: consider merging into parent, though NCIT treats as two owl:Class UBERON:0016520 biolink:NamedThing epithelium of female urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002325 biolink:NamedThing epithelium of urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021234 biolink:NamedThing spinal cord neoplasm A neoplasm (disease) that involves the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl tumor of the spinal cord|spinal cord tumor|spinal cord neoplasm (disease)|neoplasm of spinal cord|neoplasm of the spinal cord|tumor of spinal cord NCIT:C3381|UMLS:C0037930 owl:Class MONDO:0002545 biolink:NamedThing spinal cord disorder A disease involving the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl spinal cord disorder|disorder of spinal cord|spinal cord disease|disease or disorder of spinal cord|spinal cord disease or disorder|disease of spinal cord|myelopathy|disease of the spinal cord UMLS:C0037928|ICD9:336.8|DOID:319|ICD10:G95.9|ICD9:336.9|NCIT:C97110|MESH:D013118|SCTID:48522003 owl:Class HGNC:16997 biolink:NamedThing MLLT11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000996 biolink:NamedThing vagina tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013515 biolink:NamedThing subdivision of oviduct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019176 biolink:NamedThing trichorhinophalangeal syndrome type I or III Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. tmpaxzxjjyw_mondo_relaxed.owl trichorhinophalangeal syndrome type 1 and 3 OMIM:190351|Orphanet:77258|ICD10:Q87.1|UMLS:CN205736|OMIM:190350 owl:Class UBERON:0004061 biolink:NamedThing neural tube mantle layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034707 biolink:NamedThing differentiating neuroepithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013636 biolink:NamedThing epithelium of intestinal villus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001902 biolink:NamedThing epithelium of small intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002237 biolink:NamedThing true rib tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000223 biolink:NamedThing lung neuroendocrine cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003212 biolink:NamedThing gustatory organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000005 biolink:NamedThing chemosensory organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002685 biolink:NamedThing childhood choroid plexus carcinoma A choroid plexus carcinoma that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl choroid plexus carcinoma of childhood|childhood choroid plexus carcinoma|childhood choroid plexus cancer|childhood choroid plexus neoplasm|pediatric choroid plexus carcinoma NCIT:C42080|UMLS:C0280623|DOID:3545|NCIT:C124292 owl:Class MONDO:0016718 biolink:NamedThing choroid plexus carcinoma A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of choroid plexus|cancer of the choroid plexus|carcinoma of choroid plexus|choroid plexus carcinoma|malignant neoplasm of the choroid plexus|choroid plexus cancer|carcinoma, choroid plexus, malignant|malignant neoplasm of choroid plexus|anaplastic choroid plexus papilloma|cancer of choroid plexus|carcinoma of the choroid plexus|choroid plexus carcinoma (morphologic abnormality) ONCOTREE:CPC|OMIM:260500|Orphanet:251899|NCIT:C4533|MESH:C562943|DOID:5648|GARD:0008238|ICD10:C71.7|ICDO:9390/3|MedDRA:10067478|SCTID:188292007|NCIT:C4715 owl:Class GO:1901317 biolink:NamedThing regulation of flagellated sperm motility Any process that modulates the frequency, rate or extent of flagellated sperm motility. tmpaxzxjjyw_mondo_relaxed.owl regulation of sperm movement|regulation of sperm motility owl:Class GO:0060295 biolink:NamedThing regulation of cilium movement involved in cell motility Any process that modulates the rate frequency or extent of cilium movement involved in ciliary motility. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009445 biolink:NamedThing ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome is characterised by ichthyosis, hepatosplenomegaly and late-onset cerebellar ataxia. It has been described in two brothers. Transmission is either autosomal recessive or X-linked. tmpaxzxjjyw_mondo_relaxed.owl Dykes-Markes-Harper syndrome|ichthyosis, hepatosplenomegaly, and cerebellar degeneration|Dykes Markes Harper syndrome|Dykes-Marks-Harper syndrome SCTID:403779009|ICD10:Q87.8|GARD:0001993|ICD9:571.8|Orphanet:2274|MESH:C535727|OMIM:242520|UMLS:C1275088 owl:Class NCBITaxon:359160 biolink:NamedThing BOP clade tmpaxzxjjyw_mondo_relaxed.owl BEP clade GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:4479 biolink:NamedThing Poaceae tmpaxzxjjyw_mondo_relaxed.owl Gramineae|Bambusaceae|grass family GC_ID:1 NCBITaxon:1661618 ncbi_taxonomy owl:Class GO:0032770 biolink:NamedThing positive regulation of monooxygenase activity Any process that activates or increases the activity of a monooxygenase. tmpaxzxjjyw_mondo_relaxed.owl up regulation of monooxygenase activity|activation of monooxygenase activity|stimulation of monooxygenase activity|up-regulation of monooxygenase activity|upregulation of monooxygenase activity owl:Class GO:0051353 biolink:NamedThing positive regulation of oxidoreductase activity Any process that activates or increases the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. tmpaxzxjjyw_mondo_relaxed.owl upregulation of oxidoreductase activity|up regulation of oxidoreductase activity|oxidoreductase activator|ribonucleotide reductase activating enzyme activity|activation of oxidoreductase activity|up-regulation of oxidoreductase activity|stimulation of oxidoreductase activity owl:Class GO:1902117 biolink:NamedThing positive regulation of organelle assembly Any process that activates or increases the frequency, rate or extent of organelle assembly. tmpaxzxjjyw_mondo_relaxed.owl upregulation of organelle assembly|up-regulation of organelle assembly|up regulation of organelle assembly|activation of organelle assembly owl:Class MONDO:0003777 biolink:NamedThing renal pelvis urothelial papilloma A benign neoplasm of the renal pelvis that involves the transitional epithelium projecting above the surrounding epithelial surface and consisting of villous or arborescent outgrowths of fibrovascular stroma. tmpaxzxjjyw_mondo_relaxed.owl renal pelvis urothelial papilloma DOID:6119|UMLS:C1514844|NCIT:C4528 owl:Class MONDO:0021467 biolink:NamedThing benign neoplasm of renal pelvis A benign neoplasm that involves the renal pelvis. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of renal pelvis|benign tumor of the renal pelvis|benign neoplasm of the renal pelvis|benign kidney pelvis neoplasm|renal pelvis benign neoplasm|benign renal pelvis neoplasm|benign renal pelvis tumor NCIT:C3616|UMLS:C0154015|EFO:1000118|SCTID:92319008|ICD9:223.1 owl:Class MONDO:0007103 biolink:NamedThing amyotrophic lateral sclerosis type 1 tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis, sporadic, included|FALS|amyotrophic lateral sclerosis 1, autosomal dominant|amyotrophic lateral sclerosis, autosomal dominant|amyotrophic lateral sclerosis type 1|ALS1|amyotrophic lateral sclerosis 1, autosomal recessive|amyotrophic lateral sclerosis 1, familial|amyotrophic lateral sclerosis, familial|amyotrophic lateral sclerosis 1|amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included|amyotrophic lateral sclerosis, sporadic Orphanet:803|ICD10:G12.2|OMIM:105400|MESH:C531617|DOID:0060193 owl:Class NCBITaxon:10298 biolink:NamedThing Human alphaherpesvirus 1 tmpaxzxjjyw_mondo_relaxed.owl Herpes simplex virus type 1|herpes simplex virus type 1 HSV-1|herpes simplex virus type-1 HSV-1|herpes simplex virus type 1 HSV1|Herpes simplex virus 1|herpes simplex virus HSV-1|Human herpesvirus type 1|herpes simplex virus 1 HSV-1|HSV1|HSV-1|Human herpesvirus 1 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10294 biolink:NamedThing Simplexvirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class PATO:0001547 biolink:NamedThing quality of a gas A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape. tmpaxzxjjyw_mondo_relaxed.owl gaseous owl:Class PATO:0002198 biolink:NamedThing quality of a substance A quality inhering in a bearer by virtue of its constitution. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012490 biolink:NamedThing cone-rod synaptic disorder, congenital nonprogressive tmpaxzxjjyw_mondo_relaxed.owl night blindness, congenital stationary, incomplete, autosomal recessive, formerly|cone-rod synaptic disorder, congenital nonprogressive|night blindness, congenital stationary, incomplete, autosomal recessive|CRSD|night blindness, congenital stationary, type 2B, formerly|night blindness, congenital stationary, type 2B OMIM:610427|UMLS:C1864877|Orphanet:215 owl:Class GO:1903429 biolink:NamedThing regulation of cell maturation Any process that modulates the frequency, rate or extent of cell maturation. tmpaxzxjjyw_mondo_relaxed.owl regulation of functional differentiation owl:Class GO:0060284 biolink:NamedThing regulation of cell development Any process that modulates the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003952 biolink:NamedThing anterior stroma of cornea tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018531 biolink:NamedThing carcinoma of liver and intrahepatic biliary tract A carcinoma that arises from the hepatocytes or intrahepatic bile ducts. The main subtypes are hepatocellular carcinoma (hepatoma) and cholangiocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl liver carcinoma|primary liver carcinoma|liver and intrahepatic bile duct cancer|hepatic cancer|carcinoma of liver|liver and intrahepatic biliary tract cancer|carcinoma of liver and IBT|cancer of the liver and intrahepatic biliary tract|liver cancer|liver and intrahepatic bile duct carcinoma|cancer of the liver|liver and intrahepatic biliary tract carcinoma|hepatocellular carcinoma plus intrahepatic cholangiocarcinoma|cancer of liver|liver/hepatobiliary cancer|cancer of liver and intrahepatic biliary tract ONCOTREE:HCCIHCH|NCIT:C7927|Orphanet:424936|UMLS:C0279000 Editor note: In uberon intrahepatic bile ducts are part of the liver, so we equate this with carcinoma of liver; we use hepatocellular for the liver proper owl:Class HGNC:17245 biolink:NamedThing CPA6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013833 biolink:NamedThing keratoconus 7 tmpaxzxjjyw_mondo_relaxed.owl keratoconus 7|KTCN7 UMLS:C3553308|OMIM:614629 owl:Class UBERON:0001952 biolink:NamedThing epithelium of oropharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019182 biolink:NamedThing inherited obesity tmpaxzxjjyw_mondo_relaxed.owl monogenic obesity|genetic obesity|genetic obesity (disease) Orphanet:77828|ICD10:E66.8|OMIM:601665 owl:Class NCBITaxon:171 biolink:NamedThing Leptospira tmpaxzxjjyw_mondo_relaxed.owl PMID:1581182|PMID:9103653|PMID:19868121|GC_ID:11|PMID:10425768 NCBITaxon:29514|NCBITaxon:29516|NCBITaxon:29512 ncbi_taxonomy owl:Class NCBITaxon:170 biolink:NamedThing Leptospiraceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:16014471 ncbi_taxonomy owl:Class MONDO:0019462 biolink:NamedThing splenic marginal zone lymphoma Splenic marginal zone lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement in the spleen, bone marrow and, frequently, the blood. It usually presents with splenomegaly, lymphocytosis, anemia and/or thrombocytopenia. Hepatitis C virus and autoimmune manifestations, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, could be associated. tmpaxzxjjyw_mondo_relaxed.owl SMZL|marginal zone lymphoma of the spleen|splenic marginal zone B-cell lymphoma with villous lymphocytes|splenic lymphoma with circulating villous lymphocytes|splenic marginal zone lymphoma with villous lymphocytes|marginal zone lymphoma of spleen|splenic marginal zone lymphoma|splenic marginal zone B-cell lymphoma|SLVL ICD10:C83.0|ICDO:9689/3|MedDRA:10062113|Orphanet:86854|SCTID:763666008|EFO:1000550|NCIT:C4663|DOID:0050750|UMLS:C0349632|ONCOTREE:SMZL owl:Class MONDO:0017604 biolink:NamedThing marginal zone lymphoma A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. tmpaxzxjjyw_mondo_relaxed.owl MZL|marginal zone B cell lymphoma|lymphoma of marginal zone B cell|MZBCL|marginal zone lymphoma|marginal zone B-cell lymphoma UMLS:C0242647|SCTID:447100004|NCIT:C4341|UMLS:C1367654|EFO:1000630|GARD:0013237|ONCOTREE:MZL|DOID:0050748|Orphanet:300912|ICDO:9699/3 owl:Class CL:0010021 biolink:NamedThing cardiac myoblast tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0056815 biolink:NamedThing liver adenosquamous carcinoma A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells. tmpaxzxjjyw_mondo_relaxed.owl liver adenosquamous carcinoma|liver adenosquamous cancer UMLS:C3898586|NCIT:C118630 owl:Class MONDO:0005706 biolink:NamedThing coccidioidomycosis A fungal infection caused by Coccidioides immitis. Affected individuals usually have mild flu-like symptoms. However, pneumonia and systemic involvement with the formation of abscesses may develop as complications of the disease. tmpaxzxjjyw_mondo_relaxed.owl Coccidioides immitis infectious disease|desert fever|Coccidioides immitis disease or disorder|desert rheumatism|San Joaquin valley fever|Coccidioides immitis caused disease or disorder|Coccidioides infection|California disease|primary extrapulmonary coccidioidomycosis|Valley fever GARD:0009525|DOID:13450|MESH:D003047|ICD9:114.9|UMLS:CN201384|ICD10:B38.3|ICD10:B38.4|NCIT:C84642|ICD10:B38.1|ICD10:B38.9|EFO:0007211|UMLS:C0700644|SCTID:23247008|Orphanet:228123|ICD10:B38.2|ICD10:B38|ICD9:114.1|MedDRA:10009825|ICD9:114|ICD10:B38.8|ICD10:B38.0|UMLS:C0009186|ICD10:B38.7 owl:Class GO:0030216 biolink:NamedThing keratinocyte differentiation The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte. tmpaxzxjjyw_mondo_relaxed.owl keratinocyte cell differentiation owl:Class GO:0009913 biolink:NamedThing epidermal cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epidermal cell, any of the cells making up the epidermis. tmpaxzxjjyw_mondo_relaxed.owl hypodermal cell differentiation owl:Class MONDO:0012133 biolink:NamedThing lateral semicircular canal malformation, familial, with external and middle ear abnormalities tmpaxzxjjyw_mondo_relaxed.owl lateral semicircular canal malformation, familial, with external and middle ear abnormalities GARD:0010067|UMLS:C1837314|MESH:C537879|OMIM:608814 https://rarediseases.info.nih.gov/diseases/10067/lateral-semicircular-canal-malformation-familial-with-external-and-middle-ear-abnormalities owl:Class GO:0090206 biolink:NamedThing negative regulation of cholesterol metabolic process Any process that decreases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000312 biolink:NamedThing bronchial goblet cell A goblet cell that is part of the epithelium of bronchus. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of epithelium of bronchus FMA:263032 cell owl:Class CL:0002328 biolink:NamedThing bronchial epithelial cell An epithelial cell of the bronchus. tmpaxzxjjyw_mondo_relaxed.owl BTO:0002922 tmeehan 2010-09-20T02:00:00Z cell owl:Class CHEBI:35701 biolink:NamedThing ester A compound formally derived from an oxoacid RkE(=O)l(OH)m (l > 0) and an alcohol, phenol, heteroarenol, or enol by linking with formal loss of water from an acidic hydroxy group of the former and a hydroxy group of the latter. tmpaxzxjjyw_mondo_relaxed.owl Ester|esters owl:Class UBERON:0013686 biolink:NamedThing anatomical conduit space tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002014 biolink:NamedThing Diarrhea Abnormally increased frequency of loose or watery bowel movements. tmpaxzxjjyw_mondo_relaxed.owl Diarrhea|Watery stool|Diarrhoea SNOMEDCT_US:62315008|SNOMEDCT_US:267060006|UMLS:C0011991|MSH:D003967 human_phenotype owl:Class UBERON:0005431 biolink:NamedThing anterior spinal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002458 biolink:NamedThing spinal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905789 biolink:NamedThing positive regulation of detection of mechanical stimulus involved in sensory perception of touch Any process that activates or increases the frequency, rate or extent of detection of mechanical stimulus involved in sensory perception of touch. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of perception of touch, detection of mechanical stimulus|positive regulation of sensory detection of mechanical stimulus during perception of touch|activation of tactition, sensory detection of mechanical stimulus|activation of perception of touch, sensory detection of mechanical stimulus|upregulation of detection of mechanical stimulus involved in sensory perception of touch|upregulation of perception of touch, detection of mechanical stimulus|upregulation of perception of touch, sensory transduction of mechanical stimulus|activation of perception of touch, detection of mechanical stimulus|up regulation of detection of mechanical stimulus involved in sensory perception of touch|up-regulation of detection of mechanical stimulus involved in sensory perception of touch|activation of perception of touch, sensory transduction of mechanical stimulus|up regulation of sensory transduction of mechanical stimulus during perception of touch|activation of detection of mechanical stimulus involved in sensory perception of touch|up regulation of sensory detection of mechanical stimulus during perception of touch|positive regulation of perception of touch, sensory transduction of mechanical stimulus|positive regulation of perception of touch, sensory detection of mechanical stimulus|upregulation of perception of touch, sensory detection of mechanical stimulus|upregulation of tactition, sensory detection of mechanical stimulus|up-regulation of tactition, sensory detection of mechanical stimulus|activation of sensory detection of mechanical stimulus during perception of touch|upregulation of sensory transduction of mechanical stimulus during perception of touch|activation of sensory transduction of mechanical stimulus during perception of touch|up-regulation of perception of touch, sensory detection of mechanical stimulus|up regulation of perception of touch, detection of mechanical stimulus|upregulation of sensory detection of mechanical stimulus during perception of touch|up regulation of perception of touch, sensory detection of mechanical stimulus|up-regulation of perception of touch, sensory transduction of mechanical stimulus|up regulation of perception of touch, sensory transduction of mechanical stimulus|positive regulation of tactition, sensory detection of mechanical stimulus|up regulation of tactition, sensory detection of mechanical stimulus|up-regulation of sensory transduction of mechanical stimulus during perception of touch|positive regulation of perception of touch, detection of mechanical stimulus|positive regulation of sensory transduction of mechanical stimulus during perception of touch|up-regulation of sensory detection of mechanical stimulus during perception of touch owl:Class GO:1905787 biolink:NamedThing regulation of detection of mechanical stimulus involved in sensory perception of touch Any process that modulates the frequency, rate or extent of detection of mechanical stimulus involved in sensory perception of touch. tmpaxzxjjyw_mondo_relaxed.owl regulation of perception of touch, detection of mechanical stimulus|regulation of sensory transduction of mechanical stimulus during perception of touch|regulation of perception of touch, sensory transduction of mechanical stimulus|regulation of tactition, sensory detection of mechanical stimulus|regulation of perception of touch, sensory detection of mechanical stimulus|regulation of sensory detection of mechanical stimulus during perception of touch owl:Class HGNC:1677 biolink:NamedThing CD247 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006880 biolink:NamedThing oral leukoedema A disorder of the buccal mucosa resembling early leukoplakia, characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl leukedema of mouth UMLS:C0023523|ICD9:528.79|DOID:4557|MESH:D007967|SCTID:67795000|EFO:1001075|MedDRA:10057365 owl:Class NCBITaxon:2842407 biolink:NamedThing Alpharhabdovirinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11270 biolink:NamedThing Rhabdoviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:16186241 ncbi_taxonomy owl:Class MONDO:0020830 biolink:NamedThing diaphragmitis tmpaxzxjjyw_mondo_relaxed.owl diaphragmitis|diaphragmatitis EFO:0000937|SCTID:73160007|UMLS:C0011985 owl:Class MONDO:0022177 biolink:NamedThing chromosome 13q trisomy tmpaxzxjjyw_mondo_relaxed.owl trisomy 13q|Duplication 13q MESH:C535485|UMLS:C0795849 owl:Class MONDO:0012052 biolink:NamedThing ALG1-CDG A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3). tmpaxzxjjyw_mondo_relaxed.owl CDG syndrome type Ik|congenital disorder of glycosylation type Ik|carbohydrate deficient glycoprotein syndrome type Ik|congenital disorder of glycosylation, type Ik|ALG1-CDG|CDG-Ik|CDG 1K|congenital disorder of glycosylation type 1k|mannosyltransferase 1 deficiency|CDG1K|CDG Ik|ALG1-CDG (CDG-Ik) UMLS:C2931005|SCTID:720941007|DOID:0080563|Orphanet:79327|MESH:C535749|GARD:0009838|OMIM:608540|ICD10:E77.8 owl:Class MONDO:0004643 biolink:NamedThing myeloid leukemia A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia. tmpaxzxjjyw_mondo_relaxed.owl myelogenous leukemia|non-lymphoblastic leukemia|leukemia myelogenous|myeloid leukemia|myeloid granulocytic leukemia|leukemia myeloid|myelocytic leukemia|leukemia, granulocytic, malignant|non-lymphocytic leukemia|leukemia granulocytic MESH:D007951|ICDO:9860/3|UMLS:C0023470|ICD10:C92.90|ICD10:C92.9|ICD9:205.9|DOID:8692|ICD9:205.80|ICD9:205|ICD10:C92|NCIT:C3172|SCTID:188732008|ICD9:205.90|GARD:0008226 https://rarediseases.info.nih.gov/diseases/8226/myeloid-leukemia owl:Class MONDO:0012436 biolink:NamedThing neonatal diabetes mellitus with congenital hypothyroidism A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, neonatal, with congenital hypothyroidism|NDH syndrome|NDH|Ndh syndrome|neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome|neonatal diabetes mellitus with congenital hypothyroidism UMLS:C1857775|MESH:C565705|OMIM:610199|Orphanet:79118|DOID:0060638 owl:Class MONDO:0016391 biolink:NamedThing neonatal diabetes mellitus Neonatal diabetes mellitus presents as hyperglycemia, failure to thrive and, in some cases, dehydration and ketoacidosis which may be severe with coma, in a child within the first months of life. tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus syndrome in newborn infant|NDM|congenital diabetes mellitus SCTID:49817004|ICD10:P70.2|Orphanet:224|DOID:11717|UMLS:C0158981|NCIT:C99248|MedDRA:10028933|ICD9:775.1 owl:Class MONDO:0001615 biolink:NamedThing epidemic keratoconjunctivitis Keratoconjunctivitis resulting from infection by adenoviruses. tmpaxzxjjyw_mondo_relaxed.owl shipyard eye|EKC NCIT:C34590|DOID:13014|UMLS:C0014493|ICD9:077.1|ICD10:B30.0|SCTID:60548004 owl:Class MONDO:0004768 biolink:NamedThing keratoconjunctivitis Inflammation of both the cornea and the conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34744|ICD10:H16.20|ICD9:370.49|DOID:9368|ICD9:370.40|ICD9:370.8|ICD10:H16.2|UMLS:C0022573|MESH:D007637|HP:0001096|SCTID:88151007 owl:Class HP:0012093 biolink:NamedThing Abnormality of endocrine pancreas physiology A function abnormality of the endocrine pancreas. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023047 peter 2012-08-20T09:18:18Z human_phenotype owl:Class HP:0000818 biolink:NamedThing Abnormality of the endocrine system An abnormality of the endocrine system. tmpaxzxjjyw_mondo_relaxed.owl Endocrine system disease MSH:D004700|UMLS:C4025823|SNOMEDCT_US:362969004|UMLS:C0014130 The endocrine system is composed of glands that secrete hormones directly into the bloodstream and includes the following glands: thyroid, parathyroids, adrenals, pancreas, gonads (testicles and ovaries), and pituitary. Many other organs, such as the kidney, liver, and heart, have secondary endocrine functions. human_phenotype owl:Class MONDO:0017029 biolink:NamedThing Langerhans cell histiocytosis specific to adulthood Langerhans cell histiocytosis that occurs during adulthood. tmpaxzxjjyw_mondo_relaxed.owl Langerhans cell granulomatosis specific to adulthood|histiocytosis X specific to adulthood|adult Langerhans cell histiocytosis|Langerhans cell histiocytosis UMLS:C3900100|NCIT:C114929|Orphanet:264750 owl:Class MONDO:0018310 biolink:NamedThing Langerhans cell histiocytosis Langerhans cell histiocytosis (LCH) is a systemic disease associated with the proliferation and accumulation (usually in granulomas) of Langerhans cells in various tissues. tmpaxzxjjyw_mondo_relaxed.owl letterer-Siwe disease of lymph nodes of axilla and upper limb|letterer-Siwe disease of lymph nodes of head, face and neck|letterer-Siwe disease of intrathoracic lymph nodes|letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb|Langerhans cell histiocytosis|letterer-Siwe disease involving lymph nodes of multiple sites|letterer-Siwe disease of lymph nodes of axilla and/or upper limb|letterer-Siwe disease of lymph nodes of head, face and/or neck|letterer-Siwe disease of intra-abdominal lymph nodes|Langerhans-cell histiocytosis|letterer-Siwe disease involving lymph nodes of inguinal region and lower limb|letterer-Siwe disease involving spleen|letterer-Siwe disease involving lymph nodes of head, face and neck|LCH|Langerhans cell granulomatosis|letterer-Siwe disease of lymph nodes of multiple sites|letterer-Siwe disease of intrapelvic lymph nodes|Lch|Langerhans cell histiocytosis, NOS|letterer-Siwe disease of lymph nodes of inguinal region and lower limb|letterer-Siwe disease involving lymph nodes of head, face, and neck|Langerhans cell histiocytosis, Not otherwise specified|letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb|histiocytosis X|letterer-Siwe disease involving intra-abdominal lymph nodes|letterer-Siwe disease involving intrapelvic lymph nodes|Langerhan's cell histiocytosis|letterer-Siwe disease of spleen|letterer-Siwe disease involving lymph nodes of axilla and upper limb|letterer-Siwe disease involving intrathoracic lymph nodes ICDO:9752/1|OMIM:604856|NCIT:C6920|UMLS:C0019621|EFO:1000318|UMLS:C0432551|ICDO:9753/1|DOID:2571|NCIT:C3160|UMLS:C0023381|GARD:0006858|ONCOTREE:LCH|ICDO:9754/3|NCIT:C3107|ICD10:C96.5|UMLS:C0432553|UMLS:C0432550|Orphanet:389|UMLS:C0432547|SCTID:39795003|SCTID:65399007|ICD10:C96.6|ICD9:202.5|ICDO:9751/1|ICD10:C96.0|UMLS:C0432552|MedDRA:10069698|UMLS:C0432549|UMLS:C0432548|ICDO:9751/3|OMIM:246400|UMLS:C0432554|ICD9:277.89 We follow NCIT in classifying this as a neoplasm but this may be revisited owl:Class GO:2000348 biolink:NamedThing regulation of CD40 signaling pathway Any process that modulates the frequency, rate or extent of signaling via the CD40 signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl regulation of CD40 signalling pathway owl:Class UBERON:0005233 biolink:NamedThing medial-nasal process ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000924 biolink:NamedThing ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11053 biolink:NamedThing Dengue virus 1 tmpaxzxjjyw_mondo_relaxed.owl dengue virus type I|dengue virus type 1 DEN1|Dengue virus type 1|dengue type 1 D1 virus|type 1 dengue virus DEN-1|dengue virus-1 DEN-1 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:12637 biolink:NamedThing Dengue virus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017825 biolink:NamedThing silent pituitary adenoma tmpaxzxjjyw_mondo_relaxed.owl ICD10:D35.2|UMLS:CN203795|Orphanet:314786 owl:Class MONDO:0019613 biolink:NamedThing non-functioning pituitary adenoma A hormone producing or non-producing pituitary gland adenoma not associated with a hormonal syndrome. tmpaxzxjjyw_mondo_relaxed.owl non-secretory pituitary gland adenoma|NFPA|functionless adenoma of the pituitary|non-secretory adenoma of the pituitary|functionless pituitary adenoma|functionless adenoma of pituitary gland|non-functioning adenoma of pituitary gland|non-secretory adenoma of the pituitary gland|non-secretory adenoma of pituitary gland|non-functioning pituitary adenoma|functionless adenoma of the pituitary gland|non-functioning adenoma of pituitary|functionless pituitary gland adenoma|silent pituitary gland adenoma|non-functioning pituitary gland adenoma|non-secretory adenoma of pituitary|functionless adenoma of pituitary|non-functioning adenoma of the pituitary|non-functioning adenoma of the pituitary gland|non-secretory pituitary adenoma|nonfunctional pituitary gland adenoma EFO:0008516|SCTID:254962005|ICD10:D35.2|Orphanet:91349|DOID:5715|NCIT:C4348 owl:Class NCBITaxon:53466 biolink:NamedThing Mesocestoididae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6201 biolink:NamedThing Cyclophyllidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004817 biolink:NamedThing lacrimal gland epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6973 biolink:NamedThing MDM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2226 biolink:NamedThing COLQ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020076 biolink:NamedThing myeloproliferative neoplasm A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008) tmpaxzxjjyw_mondo_relaxed.owl myeloproliferative neoplasms|myeloproliferative disorder|myeloproliferative neoplasm|MPN|chronic myeloproliferative disorders|myeloproliferative tumor|chronic myeloproliferative neoplasm|chronic myeloproliferative disorder|chronic myeloproliferative disease|CMPD|myeloproliferative neoplasm, chronic|CMPD, U|MPD ICD10:D47.1|NCIT:C4345|NCIT:C103126|OMIM:131440|ICDO:9975/1|Orphanet:98274|ONCOTREE:MPN|EFO:0004251|GARD:0009319|DOID:2226|UMLS:C1292778|SCTID:425333006|MedDRA:10028576|ICD9:238.79|ICDO:9960/3|EFO:0002428 owl:Class HGNC:17129 biolink:NamedThing SLC39A4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015232 biolink:NamedThing radial deficiency-tibial hypoplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226642|Orphanet:1121|ICD10:Q73.8 owl:Class UBERON:0007616 biolink:NamedThing layer of synovial tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005985 biolink:NamedThing coronary vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015416 biolink:NamedThing Tessier number 5 facial cleft tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q18.8|Orphanet:141261 owl:Class MONDO:0015415 biolink:NamedThing oblique facial cleft tmpaxzxjjyw_mondo_relaxed.owl Orbitofacial cleft Orphanet:141253|ICD10:Q18.8 owl:Class MONDO:0017538 biolink:NamedThing Preaxial polydactyly of toes, bilateral tmpaxzxjjyw_mondo_relaxed.owl bifid hallux, bilateral|bifid halluces, bilateral|bifid great toes, bilateral ICD10:Q69.2|Orphanet:295177 owl:Class MONDO:0017457 biolink:NamedThing Preaxial polydactyly of toes tmpaxzxjjyw_mondo_relaxed.owl bifid hallux|bifid great toes|bifid halluces|preaxial polydactyly of foot SCTID:205132000|ICD10:Q69.2|GARD:0012771|Orphanet:295006 owl:Class MONDO:0043172 biolink:NamedThing pfeiffer rockelein syndrome tmpaxzxjjyw_mondo_relaxed.owl asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia MESH:C537890|UMLS:C2931656|GARD:0004306 owl:Class MONDO:0020007 biolink:NamedThing absence of the pulmonary artery Unilateral absence of the pulmonary artery (UAPA) is a rare congenital great vessels anomaly that commonly presents by dyspnea, frequent respiratory infections, hemoptysis and high-altitude pulmonary edema. UAPA is often associated with congenital heart malformation (CHM). In the absence of associated cardiac malformation (isolated UAPA; IUAPA), the condition may be asymptomatic until adult age. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206941|ICD10:Q25.7|Orphanet:980 owl:Class GO:0032881 biolink:NamedThing regulation of polysaccharide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving polysaccharides. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060255 biolink:NamedThing regulation of macromolecule metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016447 biolink:NamedThing somatic recombination of immunoglobulin gene segments The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. tmpaxzxjjyw_mondo_relaxed.owl somatic recombination of antibody gene segments owl:Class GO:0002562 biolink:NamedThing somatic diversification of immune receptors via germline recombination within a single locus The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005652 biolink:NamedThing nuclear lamina The fibrous, electron-dense layer lying on the nucleoplasmic side of the inner membrane of a cell nucleus, composed of lamin filaments. The polypeptides of the lamina are thought to be concerned in the dissolution of the nuclear envelope and its re-formation during mitosis. The lamina is composed of lamin A and lamin C filaments cross-linked into an orthogonal lattice, which is attached via lamin B to the inner nuclear membrane through interactions with a lamin B receptor, an IFAP, in the membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005216 biolink:NamedThing hypopharyngeal carcinoma Carcinoma, predominantly squamous cell, arising from the epithelial cells of the hypopharynx. tmpaxzxjjyw_mondo_relaxed.owl cancer of hypopharynx|hypopharyngeal throat cancer|hypopharyngeal carcinoma|carcinoma of hypopharynx|hypopharyngeal cancer|hypopharynx carcinoma|carcinoma of the hypopharynx|cancer of the hypopharynx EFO:0002938|NCIT:C9465 Carcinoma, predominantly squamous cell, arising from epithelial cells of the hypopharynx owl:Class MONDO:0016841 biolink:NamedThing 20p12.3 microdeletion syndrome 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl monosomy 20p12.3|Del(20)(p12.3) ICD10:Q93.5|UMLS:C4304539|GARD:0012492|Orphanet:261295|UMLS:CN202180|SCTID:719650004 https://rarediseases.info.nih.gov/diseases/12492/20p123-microdeletion-syndrome owl:Class MONDO:0019452 biolink:NamedThing myeloproliferative neoplasm, unclassifiable This subgroup of myeloproliferative neoplasms includes cases which do not meet the morphologic criteria of any of the defined myeloproliferative neoplasms, or which have characteristics that overlap at least two of the myeloproliferative neoplasms. tmpaxzxjjyw_mondo_relaxed.owl unclassifiable chronic myeloproliferative disease|myeloproliferative neoplasm, unclassifiable|MPN-U|unclassifiable chronic myeloproliferative disorder|undifferentiated myeloproliferative disease|CMPD-U|chronic myeloproliferative disease, unclassifiable|MPN, U|chronic myeloproliferative disorder, unclassifiable|CMPD, U ICDO:9975/3|Orphanet:86830|UMLS:C1333046|ICD10:D47.1|NCIT:C27350|OMIM:131440 owl:Class MONDO:0019940 biolink:NamedThing hypertrichosis-acromegaloid facial appearance syndrome Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, CantC9 type. tmpaxzxjjyw_mondo_relaxed.owl acromegaloid hypertrichosis syndrome|haff|hypertrichosis-coarse face syndrome|hypertrichosis-acromegaloid facial features syndrome|acromegaloid facial appearance syndrome and hypertrichosis ICD10:Q87.0|SCTID:721837000|GARD:0000502|UMLS:CN226272|Orphanet:966 https://rarediseases.info.nih.gov/diseases/502/acromegaloid-hypertrichosis-syndrome owl:Class MONDO:0011603 biolink:NamedThing GNE myopathy Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps. tmpaxzxjjyw_mondo_relaxed.owl inclusion body myopathy autosomal recessive|NM|inclusion body myopathy 2, autosomal recessive, formerly|Nonaka myopathy|IBM2|distal myopathy, Nonaka type|distal myopathy with rimmed vacuoles|myopathy, distal, with or without rimmed vacuoles|HIBM2|inclusion body myopathy, quadriceps-sparing|Nonaka distal myopathy|inclusion body myopathy, hereditary, autosomal recessive|QSM|myopathy, distal, with rimmed vacuoles|rimmed vacuole myopathy|quadriceps-sparing myopathy|DMRV|hereditary inclusion body myopathy type 2|inclusion body myopathy type 2|inclusion body myopathy 2, autosomal recessive|inclusion body myopathy, autosomal recessive|quadriceps sparing myopathy OMIM:617158|SCTID:702382000|Orphanet:602|GARD:0009493|ICD10:G71.8|OMIM:605820 owl:Class MONDO:0002934 biolink:NamedThing intravascular angioleiomyoma A morphologic variant of angioleiomyoma characterized by the adherence of neoplastic smooth muscle cells to the walls of vascular channels. tmpaxzxjjyw_mondo_relaxed.owl intravascular angiomyoma|intravascular angioleiomyoma UMLS:C1334267|DOID:4266|NCIT:C5355 owl:Class MONDO:0000629 biolink:NamedThing cardiovascular organ benign neoplasm A benign neoplasm that involves the cardiovascular system. tmpaxzxjjyw_mondo_relaxed.owl cardiovascular system benign neoplasm DOID:0060091 owl:Class MONDO:0019927 biolink:NamedThing growth hormone-producing pituitary gland neoplasm An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone. tmpaxzxjjyw_mondo_relaxed.owl growth hormone producing tumor of the pituitary gland|pituitary somatotropinoma|somatotropinoma of the pituitary|growth hormone producing tumor of pituitary gland|growth hormone producing pituitary neoplasm|growth hormone secreting neoplasm of the pituitary|growth hormone secreting tumor of the pituitary|growth hormone secreting neoplasm of the pituitary gland|growth hormone secreting tumor of pituitary gland|Growth hormone-producing pituitary gland tumor|growth hormone producing neoplasm of the pituitary|somatotroph tumor|somatotropinoma|growth hormone producing pituitary tumor|growth hormone secreting neoplasm of pituitary|pituitary gland somatotropinoma|growth hormone secreting pituitary gland neoplasm|growth hormone producing tumor of pituitary|somatotropinoma of pituitary gland|growth hormone secreting pituitary neoplasm|growth hormone secreting pituitary gland tumor|growth hormone secreting pituitary tumor|growth hormone producing neoplasm of pituitary gland|growth hormone producing pituitary gland tumor|growth hormone secreting tumor of pituitary|growth hormone producing tumor|growth hormone secreting neoplasm of pituitary gland|somatotropinoma of pituitary|somatotropinoma of the pituitary gland|growth hormone producing tumor of the pituitary|growth hormone producing neoplasm of pituitary|growth hormone-producing pituitary gland neoplasm|growth hormone secreting tumor of the pituitary gland|growth hormone producing pituitary gland neoplasm|somatotroph neoplasm|growth hormone producing neoplasm of the pituitary gland NCIT:C7911|UMLS:C0278864 owl:Class UBERON:0010720 biolink:NamedThing hindlimb zeugopod skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021452 biolink:NamedThing benign neoplasm of cornea A benign neoplasm that involves the cornea. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of cornea|benign corneal neoplasm|cornea benign neoplasm|benign tumor of the cornea|benign neoplasm of the cornea|benign cornea neoplasm|benign corneal tumor|benign cornea tumor NCIT:C3623|ICD9:224.4|UMLS:C0154026|SCTID:92070006 owl:Class GO:0045653 biolink:NamedThing negative regulation of megakaryocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of megakaryocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of megakaryocyte differentiation|down-regulation of megakaryocyte differentiation|downregulation of megakaryocyte differentiation|inhibition of megakaryocyte differentiation owl:Class GO:0045638 biolink:NamedThing negative regulation of myeloid cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl inhibition of myeloid cell differentiation|down regulation of myeloid cell differentiation|downregulation of myeloid cell differentiation|down-regulation of myeloid cell differentiation owl:Class GO:0031644 biolink:NamedThing regulation of nervous system process Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of the nervous system. tmpaxzxjjyw_mondo_relaxed.owl regulation of neurophysiological process|regulation of neurological process|regulation of neurological system process owl:Class GO:0044057 biolink:NamedThing regulation of system process Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002366 biolink:NamedThing leukocyte activation involved in immune response A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpaxzxjjyw_mondo_relaxed.owl immune cell activation during immune response|leukocyte activation during immune response|leucocyte activation during immune response owl:Class MONDO:0008318 biolink:NamedThing Proteus syndrome Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. tmpaxzxjjyw_mondo_relaxed.owl gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly|Elattoproteus syndrome|Wiedemann's syndrome|Proteus syndrome|partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|hemihypertrophy and macrocephaly Orphanet:744|UMLS:C0085261|DOID:13482|SCTID:23150001|GARD:0007475|NCIT:C85032|ICD9:759.89|OMIM:176920|UMLS:C1867610|MESH:D016715|ICD10:Q87.3 owl:Class UBERON:0002242 biolink:NamedThing nucleus pulposus tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:9001702 biolink:NamedThing exposure to macronutrient An exposure to macronutrient. tmpaxzxjjyw_mondo_relaxed.owl exposure to macronutrient owl:Class GO:0019319 biolink:NamedThing hexose biosynthetic process The chemical reactions and pathways resulting in the formation of hexose, any monosaccharide with a chain of six carbon atoms in the molecule. tmpaxzxjjyw_mondo_relaxed.owl hexose biosynthesis|hexose formation|hexose synthesis|hexose anabolism owl:Class GO:0046364 biolink:NamedThing monosaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of monosaccharides, polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. tmpaxzxjjyw_mondo_relaxed.owl monosaccharide anabolism|monosaccharide formation|monosaccharide biosynthesis|monosaccharide synthesis owl:Class HGNC:5181 biolink:NamedThing HRG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010049 biolink:NamedThing spastic paraplegia-glaucoma-intellectual disability syndrome Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl spastic paresis glaucoma intellectual disability|spastic paresis, glaucoma, and mental retardation|spastic paresis glaucoma mental retardation|spastic paresis, glaucoma, and intellectual disability GARD:0004931|Orphanet:2818|MESH:C564809|OMIM:270850|UMLS:C1849113 owl:Class MONDO:0004463 biolink:NamedThing cellular phase chronic idiopathic myelofibrosis Primary myelofibrosis characterized by bone marrow hypercellularity and the presence of atypical megakaryocytes. There is no increase in the percentage of myeloblasts and no significant increase in reticulin or collagen fibrosis in the bone marrow. tmpaxzxjjyw_mondo_relaxed.owl PMFPES|primary myelofibrosis, Prefibrotic/early stage|chronic idiopathic myelofibrosis, cellular phase|primary myelofibrosis, Prefibrotic stage|chronic idiopathic myelofibrosis, Prefibrotic stage|Prefibrotic/Early Primary myelofibrosis DOID:8106|UMLS:C1516553|NCIT:C41237|ONCOTREE:PMFPES owl:Class MONDO:0009692 biolink:NamedThing primary myelofibrosis Myelofibrosis with myeloid metaplasia is a myeloproliferative disease with annual incidence of approximately 1 case per 100,000 individuals and age at diagnosis around 60 (an increased prevalence is noted in Ashkenazi Jews). Clinical manifestations depend on the type of blood cell affected and may include anemia, pallor, splenomegaly, hypermetabolic state, petechiae, ecchymosis, bleeding, lymphadenopathy, hepatomegaly, portal hypertension. tmpaxzxjjyw_mondo_relaxed.owl aleukemic myelosis|idiopathic bone marrow fibrosis|AMM|megakaryocytic myelosclerosis|Agnogenic myeloid metaplasia|CIMF|myeloid metaplasia|myelosclerosis with myeloid metaplasia|myelosclerosis|primary myelofibrosis|myelofibrosis with myeloid metaplasia|myelofibrosis|idiopathic myelofibrosis|bone marrow fibrosis|osteomyelofibrosis|chronic idiopathic myelofibrosis Orphanet:824|MESH:D055728|ONCOTREE:PMF|ICD10:D47.4|ICD10:D75.81|UMLS:C0001815|DOID:4971|UMLS:C0948968|ICD9:289.83|GARD:0008618|OMIM:254450|NCIT:C2862|EFO:0002430|ICDO:9961/3|ICD9:238.76|UMLS:C2355576 owl:Class MONDO:0030060 biolink:NamedThing neurodevelopmental disorder with language impairment and behavioral abnormalities tmpaxzxjjyw_mondo_relaxed.owl NEDLIB|NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES|neurodevelopmental disorder with language impairment and behavioral abnormalities OMIM:618917 owl:Class UBERON:0010963 biolink:NamedThing trunk and cervical myotome group tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9439 biolink:NamedThing DNAJC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1678 biolink:NamedThing CD4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010020 biolink:NamedThing tubotympanic recess epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019251 biolink:NamedThing oligosaccharidosis tmpaxzxjjyw_mondo_relaxed.owl ICD10:E77.1|Orphanet:79215 owl:Class MONDO:0017731 biolink:NamedThing glycoproteinosis tmpaxzxjjyw_mondo_relaxed.owl GARD:0010670|ICD10:E77.1|ICD10:E77.9|Orphanet:309279|ICD10:E77.8|ICD10:E77.0 See https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 https://rarediseases.info.nih.gov/diseases/10670/glycoproteinosis owl:Class GO:0045111 biolink:NamedThing intermediate filament cytoskeleton Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005856 biolink:NamedThing cytoskeleton Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000977 biolink:NamedThing chondroid lipoma A rare benign adipose tissue neoplasm characterized by nests and cord of abundant univacuolated and multivacuolated lipoblasts and mature adipocytes in a prominent myxoid to hyalinized chondroid matrix admix. It predominantly affects females. tmpaxzxjjyw_mondo_relaxed.owl ICDO:8862/0|NCIT:C6503|DOID:10208|SCTID:404065000|UMLS:C1266131 owl:Class MONDO:0036781 biolink:NamedThing benign axillary neoplasm A non-metastasizing neoplasm that arises from the structures of the axilla. tmpaxzxjjyw_mondo_relaxed.owl benign axillary neoplasm|axillary neoplasm, benign NCIT:C35750|UMLS:C0684828 owl:Class NCBITaxon:6690 biolink:NamedThing Penaeus aztecus tmpaxzxjjyw_mondo_relaxed.owl Farfantepenaeus aztecus|brown shrimp|Penaeus (Farfantepenaeus) aztecus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:133894 biolink:NamedThing Penaeus tmpaxzxjjyw_mondo_relaxed.owl Melicertus|Fenneropenaeus|Litopenaeus|Marsupenaeus|Farfantepenaeus GC_ID:1 NCBITaxon:133896|NCBITaxon:85653|NCBITaxon:133900|NCBITaxon:122377|NCBITaxon:133898 ncbi_taxonomy owl:Class MONDO:0021661 biolink:NamedThing coronary atherosclerosis Atherosclerosis of the coronary vasculature. tmpaxzxjjyw_mondo_relaxed.owl arteriosclerosis disorder of coronary artery|coronary artery arteriosclerosis disorder|atherosclerosis of coronary artery|coronary artery arteriosclerosis (disease)|coronary atherosclerosis ICD9:414.00|NCIT:C35505|SCTID:443502000 owl:Class MONDO:0012976 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 2B Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene. tmpaxzxjjyw_mondo_relaxed.owl GJB3 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 2B|autosomal dominant deafness 2B|DFNA2B|deafness, autosomal dominant 2B|autosomal dominant nonsyndromic deafness 2B|autosomal dominant nonsyndromic deafness caused by mutation in GJB3|autosomal dominant nonsyndromic deafness type 2B UMLS:C2675236|MESH:C567214|ICD10:H90.3|OMIM:612644|DOID:0110559 owl:Class GO:0044149 biolink:NamedThing positive regulation of formation of structure involved in a symbiotic process Any process that activates or increases the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of development of symbiont involved in interaction with host|positive regulation of development of symbiont during interaction with host owl:Class GO:0044145 biolink:NamedThing modulation of formation of structure involved in a symbiotic process Any process that modulates the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism. tmpaxzxjjyw_mondo_relaxed.owl modulation of development of symbiont involved in interaction with host|modulation of development of symbiont during interaction with host owl:Class GO:0030195 biolink:NamedThing negative regulation of blood coagulation Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of blood coagulation|down regulation of blood coagulation|inhibition of blood coagulation|down-regulation of blood coagulation owl:Class MONDO:0007301 biolink:NamedThing cerebrocostomandibular syndrome Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis. tmpaxzxjjyw_mondo_relaxed.owl rib Gap defects with micrognathia|cerebro-costo-mandibular syndrome|CCM syndrome|CCMS|cerebrocostomandibular syndrome|CEREBROCOSTOMANDIBULAR syndrome MESH:C562538|DOID:0111248|ICD10:Q87.8|OMIM:117650|SCTID:51780007|UMLS:C0265342|GARD:0006026|Orphanet:1393|ICD9:759.89 owl:Class MONDO:0006426 biolink:NamedThing spinal cord primitive neuroectodermal tumor A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl spinal cord primitive neuroectodermal neoplasm|spinal cord primitive neuroectodermal tumor|primitive neuroectodermal neoplasm of spinal cord|primitive neuroectodermal tumor of the spinal cord|primitive neuroectodermal neoplasm of the spinal cord|primitive neuroectodermal tumor of spinal cord|spinal cord PNET UMLS:C1336048|DOID:6872|EFO:1000545|NCIT:C5406 owl:Class MONDO:0000640 biolink:NamedThing central nervous system primitive neuroectodermal neoplasm A neuroectodermal tumor that involves the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl CNS primitive neuroectodermal tumor|CNS primitive neuroectodermal neoplasm|central nervous system PNET|primitive neuroectodermal tumor of central nervous system|central primitive neuroectodermal neoplasm|central nervous system primitive neuroectodermal tumor|central nervous system primitive neuroectodermal neoplasm|central nervous system neuroectodermal tumor|CNS PNET|central primitive neuroectodermal tumor|central nervous system primitive neuroectodermal tumor (WHO grade IV) UMLS:CN201960|NCIT:C5398|DOID:0060103 NCIT calls this CNS embryonal tumor, NOS owl:Class MONDO:0008323 biolink:NamedThing Liddle syndrome Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone. tmpaxzxjjyw_mondo_relaxed.owl pseudoaldosteronism|LIDLS|pseudohyperaldosteronism type 1|Liddle's syndrome|Liddle syndrome UMLS:C0221043|MESH:D056929|MedDRA:10037113|MedDRA:10052313|SCTID:707747007|ICD10:I15.1|Orphanet:526|OMIMPS:177200|NCIT:C84827|GARD:0007381|DOID:0050477 https://rarediseases.info.nih.gov/diseases/7381/liddle-syndrome owl:Class MONDO:0006510 biolink:NamedThing renal tubular transport disease Genetic defects in the selective or non-selective transport functions of the kidney tubules. tmpaxzxjjyw_mondo_relaxed.owl kidney tubular transport, inborn error|disorder of renal absorption|renal tubular transport errors|kidney tubular transport, inborn errors|renal tubular transport, inborn error|inborn renal tubular transport disorder|renal absorption disease EFO:1000647|DOID:447|MESH:D015499|UMLS:C0035091 owl:Class MONDO:0006512 biolink:NamedThing estrogen-receptor positive breast cancer A subtype of breast cancer that is estrogen-receptor positive tmpaxzxjjyw_mondo_relaxed.owl ER+ breast cancer|estrogen receptor positive breast cancer EFO:1000649|DOID:0060075 owl:Class MONDO:0007254 biolink:NamedThing breast cancer A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. tmpaxzxjjyw_mondo_relaxed.owl mammary tumor|malignant tumor of the breast|mammary cancer|breast cancer|cancer of breast|primary breast cancer|breast tumor|malignant breast neoplasm|malignant neoplasm of breast|malignant tumor of breast|malignant breast tumor|mammary neoplasm|malignant neoplasm of the breast ICD10:C50|MESH:D001943|DOID:1612|SCTID:126926005|ICD10:C50-C50|SCTID:254837009|OMIM:605365|OMIM:600048|ICD9:174.8|NCIT:C9335 owl:Class MONDO:0000470 biolink:NamedThing endocardium disorder A disease involving the endocardium. tmpaxzxjjyw_mondo_relaxed.owl endocardium disease or disorder|disorder of endocardium|endocardial disease|endocardiopathy|disease or disorder of endocardium|endocardium disease|disease of endocardium UMLS:C0854140|SCTID:123596001|DOID:0050825 owl:Class MONDO:0016013 biolink:NamedThing fetal methylmercury syndrome Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury. tmpaxzxjjyw_mondo_relaxed.owl Minamata disease|Methyl mercury antenatal exposure|Methyl mercury antenatal infection ICD10:T56.1|GARD:0003575|Orphanet:1917|ICD9:759.89|MESH:D020262|SCTID:62110005 https://rarediseases.info.nih.gov/diseases/3575/fetal-methylmercury-syndrome owl:Class MONDO:0016677 biolink:NamedThing toxic or drug-related embryofetopathy Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment. tmpaxzxjjyw_mondo_relaxed.owl MESH:D000014|Orphanet:251529 owl:Class GO:0045657 biolink:NamedThing positive regulation of monocyte differentiation Any process that activates or increases the frequency, rate or extent of monocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl upregulation of monocyte differentiation|up-regulation of monocyte differentiation|stimulation of monocyte differentiation|up regulation of monocyte differentiation|activation of monocyte differentiation owl:Class GO:0002763 biolink:NamedThing positive regulation of myeloid leukocyte differentiation Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl up regulation of myeloid leukocyte differentiation|activation of myeloid leukocyte differentiation|upregulation of myeloid leukocyte differentiation|stimulation of myeloid leukocyte differentiation|up-regulation of myeloid leukocyte differentiation owl:Class GO:1905903 biolink:NamedThing negative regulation of mesoderm formation Any process that stops, prevents or reduces the frequency, rate or extent of mesoderm formation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of mesoderm formation|inhibition of mesoderm formation|down-regulation of mesoderm formation|downregulation of mesoderm formation owl:Class MONDO:0001116 biolink:NamedThing mesenteric lymphadenitis Inflammation of the mesenteric lymph nodes. tmpaxzxjjyw_mondo_relaxed.owl mesentery lymphadenitis (disease)|mesenteric lymphadenitis|mesenteric adenitis|lymphadenitis (disease) of mesentery NCIT:C26830|SCTID:44897000|MESH:D008640|DOID:10782|ICD10:I88.0|ICD9:289.2|UMLS:C0025469 owl:Class MONDO:0010055 biolink:NamedThing spinal muscular atrophy with microcephaly and mental subnormality tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy with microcephaly and mental subnormality MESH:C564806|OMIM:271110|UMLS:C1849108 owl:Class MONDO:0044925 biolink:NamedThing oral cavity carcinoma A carcinoma arising in the oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the oral cavity|oral cavity carcinoma|mouth carcinoma|oral cavity cancer|carcinoma of oral cavity|carcinoma of mouth UMLS:C0151546|NCIT:C8990 owl:Class MONDO:0004712 biolink:NamedThing herpes simplex dermatitis Localized rash characterized by grouped vesicles or pustules on an erythematous base that is caused by herpes simplex virus infection. tmpaxzxjjyw_mondo_relaxed.owl Herpes simplex dermatitis of eyelid|Herpes simplex eyelid dermatitis|eczema herpeticum|herpes simplex dermatitis|Simplexvirus dermatitis|herpes simplex virus eyelid dermatitis|Herpes simplex virus dermatitis|Herpes simplex dermatitis|eczema herpeticum (disorder) [ambiguous]|Simplexvirus caused dermatitis SCTID:186535001|DOID:9123|MESH:D007617|ICD10:B00.0|NCIT:C35620|UMLS:C0854331|ICD9:054.0|ICD9:054.41 owl:Class NCBITaxon:12845 biolink:NamedThing Swine influenza virus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:35324 biolink:NamedThing unclassified Orthomyxoviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0002387 biolink:NamedThing pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002470 biolink:NamedThing autopod region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018982 biolink:NamedThing Niemann-Pick disease type C NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment. tmpaxzxjjyw_mondo_relaxed.owl NPC MESH:D052556|SCTID:66751000|OMIM:607625|ICD10:E75.2|Orphanet:646|OMIM:257220 owl:Class MONDO:0001982 biolink:NamedThing Niemann-Pick disease A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. tmpaxzxjjyw_mondo_relaxed.owl Niemann-Pick disease with cholesterol esterification block|lipoid histiocytosis|lipoid histiocytosis (classical phosphatide)|sphingomyelin/cholesterol lipidosis|type A Niemann-Pick disease|Niemann-Pick disease, subacute juvenile form|sphingomyelin lipidosis|sphingomyelinase deficiency disease SCTID:66751000|DOID:14504|NCIT:C61269|SCTID:58459009|EFO:1001380|GARD:0013334|MESH:D009542|ICD10:E75.249|ICD10:E75.24|UMLS:C0028064|ICD10:E75.242|MESH:D052556 owl:Class NCBITaxon:372083 biolink:NamedThing Diphyllobothrium cordatum tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:28844 biolink:NamedThing Diphyllobothrium tmpaxzxjjyw_mondo_relaxed.owl fish tapeworms|broad tapeworm|broad tapeworms GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006234 biolink:NamedThing femur pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001290 biolink:NamedThing proximal straight tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009035 biolink:NamedThing renal straight tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013510 biolink:NamedThing lumbar vertebra pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015009 biolink:NamedThing lumbar vertebra endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031305 biolink:NamedThing integral component of mitochondrial inner membrane The component of the mitochondrial inner membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpaxzxjjyw_mondo_relaxed.owl integral to mitochondrial inner membrane owl:Class GO:0032592 biolink:NamedThing integral component of mitochondrial membrane The component of the mitochondrial membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpaxzxjjyw_mondo_relaxed.owl integral to mitochondrial membrane owl:Class MONDO:0006926 biolink:NamedThing haemophilus infectious disease Infections with bacteria of the genus haemophilus. tmpaxzxjjyw_mondo_relaxed.owl Hemophilus infections|Haemophilus disease or disorder|haemophilus infectious disease|Haemophilus infection|infections, Haemophilus|infections, Hemophilus|infection, Hemophilus|infection, Haemophilus|Haemophilus caused disease or disorder|Hemophilus infection|Haemophilus infectious disease EFO:1001127|NCIT:C34654|MESH:D006192|SCTID:41659003 owl:Class MONDO:0020607 biolink:NamedThing Liddle syndrome 1 Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1B gene. tmpaxzxjjyw_mondo_relaxed.owl Liddle syndrome 1|Liddle syndrome|LIDLS1|Pseudoaldosteronism|Liddle syndrome caused by mutation in SCNN1B|SCNN1B Liddle syndrome OMIM:177200 owl:Class FOODON:03411301 biolink:NamedThing algae An informal term for a large, diverse group of photosynthetic eukaryotic organisms that are not necessarily closely related, and is thus polyphyletic. tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03411564 biolink:NamedThing food product organismal source This is a hierarchy of organisms, grouped minimally in a combination of taxonomy and consumer-oriented food groups. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903942 biolink:NamedThing positive regulation of respiratory gaseous exchange Any process that activates or increases the frequency, rate or extent of respiratory gaseous exchange. tmpaxzxjjyw_mondo_relaxed.owl upregulation of respiratory gaseous exchange|up regulation of respiratory gaseous exchange|activation of respiratory gaseous exchange|up-regulation of respiratory gaseous exchange owl:Class MONDO:0005269 biolink:NamedThing carotid artery disorder A disease involving the carotid artery segment. tmpaxzxjjyw_mondo_relaxed.owl carotid artery segment disease|disease of carotid artery segment|carotid artery disorder|disease or disorder of carotid artery segment|carotid artery segment disease or disorder|disorder of carotid artery|disorder of carotid artery segment UMLS:C0007273|DOID:3407|EFO:0003781|SCTID:371160000|ICD9:447.9|MESH:D002340|NCIT:C84476 owl:Class MONDO:0054559 biolink:NamedThing congenital disorder of glycosylation, type IIq tmpaxzxjjyw_mondo_relaxed.owl COG2-CDG|COG2-related congenital disorder of glycosylation|CDG Iiq|CDG2Q ICD10:E77.8|Orphanet:435934|OMIM:617395|UMLS:C4479353|DOID:0070269 owl:Class MONDO:0017750 biolink:NamedThing defect in conserved oligomeric Golgi complex tmpaxzxjjyw_mondo_relaxed.owl defect in COG complex Orphanet:309568|ICD10:E77.8 owl:Class HGNC:15625 biolink:NamedThing NBAS tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0034637 biolink:NamedThing cellular carbohydrate biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0044249 biolink:NamedThing cellular biosynthetic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl cellular formation|cellular synthesis|cellular biosynthesis|cellular anabolism owl:Class MONDO:0001995 biolink:NamedThing sphenoid sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpaxzxjjyw_mondo_relaxed.owl sphenoidal sinus squamous cell carcinoma|epidermoid carcinoma of the sphenoidal sinus|epidermoid carcinoma of sphenoidal sinus|sphenoid sinus squamous cell carcinoma|squamous cell carcinoma of the sphenoid sinus|sphenoidal sinus epidermoid carcinoma|epidermoid carcinoma of sphenoid sinus|sphenoid sinus epidermoid carcinoma|squamous cell carcinoma of sphenoidal sinus|epidermoid carcinoma of the sphenoid sinus|squamous cell carcinoma of the sphenoidal sinus|squamous cell carcinoma of sphenoid sinus UMLS:C1336039|NCIT:C6066|SCTID:707355002|DOID:14547 owl:Class MONDO:0021204 biolink:NamedThing chronic otitis media Chronic form of otitis media (disease). tmpaxzxjjyw_mondo_relaxed.owl chronic otitis media (disease)|otitis media (disease), chronic UMLS:C0271441|SCTID:21186006|ICD9:381.3 owl:Class MONDO:0037003 biolink:NamedThing malignant phyllodes tumor A phyllodes tumor with sarcomatous stroma. The sarcomatous component is usually of the fibrosarcomatous type. Liposarcomatous, chondrosarcomatous, osteosarcomatous, or rhabdomyosarcomatous differentiation may also occur in the stroma. It may recur and metastasize following surgical resection. The lung and skeleton are the anatomic sites most frequently involved by metastases. tmpaxzxjjyw_mondo_relaxed.owl malignant phyllodes neoplasm|phyllodes tumor, malignant|malignant cystosarcoma phyllodes|malignant phyllodes tumor ICDO:9020/3|NCIT:C4275 owl:Class MONDO:0011984 biolink:NamedThing synpolydactyly type 2 Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene. tmpaxzxjjyw_mondo_relaxed.owl SPD2|SD2b|synpolydactyly, Debeer type|synpolydactyly 2|synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses|FBLN1 non-syndromic synpolydactyly|SPD, Debeer type|synpolydactyly type 2|SD2, Debeer type|non-syndromic synpolydactyly caused by mutation in FBLN1 ICD10:Q70.0|UMLS:C1842422|Orphanet:93403|Orphanet:295197|ICD10:Q70.2|MESH:C564278|OMIM:608180 owl:Class MONDO:0000722 biolink:NamedThing non-syndromic synpolydactyly A synpolydactyly that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic synpolydactyly|synpolydactyly|isolated synpolydactyly NCIT:C75003|MESH:C538153|DOID:0060242|Orphanet:295195|OMIM:608180|OMIM:610234|OMIM:186000 owl:Class MONDO:0010348 biolink:NamedThing dyslexia, susceptibility to, 9 tmpaxzxjjyw_mondo_relaxed.owl DYX9|dyslexia, susceptibility to, 9 OMIM:300509 owl:Class UBERON:0001356 biolink:NamedThing medial circumflex femoral artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010291 biolink:NamedThing layer of sclera tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014805 biolink:NamedThing Hao-Fountain syndrome A neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies. Additional features are variable, but may include hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, and ocular anomalies, such as strabismus. Some patients develop seizures and some have mild white matter abnormalities on brain imaging. The cause of the disease is a mutation in the USP7 gene. tmpaxzxjjyw_mondo_relaxed.owl chromosome 16p13.2 deletion syndrome|HAFOUS|monosomy 16p13.2|16p13.2 microdeletion syndrome|Hao-Fountain syndrome|Del(16)(p13.2)|chromosome 16P13.2 deletion syndrome|USP7-related neurodevelopmental disorder UMLS:C4225667|OMIM:616863|Orphanet:500055 owl:Class NCBITaxon:1511862 biolink:NamedThing Carnivore amdoparvovirus 1 tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:310911 biolink:NamedThing Amdoparvovirus tmpaxzxjjyw_mondo_relaxed.owl Amdovirus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044792 biolink:NamedThing large congenital melanocytic nevus A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation. tmpaxzxjjyw_mondo_relaxed.owl congenital melanocytic Nevus of the skin|Nevus spilus|congenital melanocytic nevi|congenital pigmented Nevus of the skin|congenital pigmented Nevus of skin|CMNS|Giant Congenital pigmented Nevus|Giant pigmented hairy nevus|congenital Nevus of skin|congenital Nevus of the skin|congenital pigmented skin Nevus|GMN|melanocytic NEVUS syndrome, CONGENITAL|pigmented moles|congenital pigmented nevus|congenital skin Nevus|congenital pigmented melanocytic Nevus|Giant pigmented hairy Nevus|congenital melanocytic Nevus of skin|congenital nevus|spitz Nevus|congenital melanocytic Nevus|LCMN|Giant congenital melanocytic nevus MedDRA:10072036|Orphanet:626|DOID:0111359|ONCOTREE:SKCN|OMIM:137550|ICD10:Q82.5|SCTID:398696001|NCIT:C3944|UMLS:C1842036|UMLS:C1318558 Editor note: check if LCMN needs separated from CMN owl:Class GO:0045542 biolink:NamedThing positive regulation of cholesterol biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. tmpaxzxjjyw_mondo_relaxed.owl up regulation of cholesterol biosynthetic process|up-regulation of cholesterol biosynthetic process|upregulation of cholesterol biosynthetic process|stimulation of cholesterol biosynthetic process|positive regulation of cholesterol synthesis|positive regulation of cholesterol formation|activation of cholesterol biosynthetic process|positive regulation of cholesterol anabolism|positive regulation of cholesterol biosynthesis owl:Class GO:0106120 biolink:NamedThing positive regulation of sterol biosynthetic process Any process that activates or increases the frequency, rate or extent of a sterol biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:7898 biolink:NamedThing Actinopterygii tmpaxzxjjyw_mondo_relaxed.owl fish|bony fishes|fishes|ray-finned fishes|Actinopterygi|Osteichthyes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030988 biolink:NamedThing developmental delay with dysmorphic facies and dental anomalies tmpaxzxjjyw_mondo_relaxed.owl DEFDA OMIM:619228 owl:Class MONDO:0020364 biolink:NamedThing posterior polymorphous corneal dystrophy Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision. tmpaxzxjjyw_mondo_relaxed.owl posterior polymorphous dystrophy|PPCD|corneal dystrophy, posterior polymorphous|hereditary polymorphus posterior corneal dystrophy|Schlichting dystrophy DOID:0060457|ICD10:H18.5|Orphanet:98973|UMLS:CN239252|OMIM:609141|OMIM:609140|OMIMPS:122000|OMIM:122000 owl:Class MONDO:0000766 biolink:NamedThing corneal endothelial dystrophy A corneal dystrophy (disease) that involves the corneal epithelium. tmpaxzxjjyw_mondo_relaxed.owl corneal dystrophy (disease) of corneal epithelium|corneal epithelium corneal dystrophy (disease)|endothelial dystrophy ICD9:371.57|DOID:0060443|SCTID:416960004 owl:Class CL:0019019 biolink:NamedThing tracheobronchial smooth muscle cell A smooth muscle cell that is part of the tracheobronchial tree. tmpaxzxjjyw_mondo_relaxed.owl smooth muscle cell of tracheobronchial tree 2020-07-21 12:50:22+00:00 owl:Class MONDO:0022936 biolink:NamedThing de Hauwere Leroy adriaenssens syndrome tmpaxzxjjyw_mondo_relaxed.owl iris dysplasia, orbital hypertelorism, and psychomotor retardation MESH:C535991|UMLS:C2931078 owl:Class MONDO:0010101 biolink:NamedThing Teebi-Shaltout syndrome Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features. tmpaxzxjjyw_mondo_relaxed.owl TBSH|Teebi Shaltout syndrome|Teebi-Shaltout syndrome|craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage Orphanet:3291|OMIM:272950|UMLS:C1848912|GARD:0005125|MESH:C536950 https://rarediseases.info.nih.gov/diseases/5125/teebi-shaltout-syndrome owl:Class UBERON:0006756 biolink:NamedThing median lingual swelling tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043247 biolink:NamedThing Mallory-Weiss syndrome A disorder characterized by upper gastrointestinal tract bleeding caused by longitudinal mucosal tears in the gastroesophageal junction. The tears result from retching or forceful coughing. It was initially described in alcoholics. tmpaxzxjjyw_mondo_relaxed.owl Mallory Weiss tear|mucosal Lacerations-gastroesophageal junction|mucosal Lacerations-gastroesophageal junctions|gastroesophageal laceration hemorrhage|gastroesophageal laceration-hemorrhages|mucosal Lacerations gastroesophageal junction|Mallory-Weiss syndrome|syndrome, Mallory-Weiss|Mallory Weiss laceration|laceration, Mallory-Weiss|junctions, mucosal Lacerations-gastroesophageal|laceration-hemorrhages, gastroesophageal|Mallory Weiss syndrome|Mallory-Weiss laceration|mucosal lacerations - gastroesophageal junction|gastroesophageal laceration-hemorrhage syndrome|gastro-esophageal laceration-hemorrhage syndrome|Mallory-Weiss tear|junction, mucosal Lacerations-gastroesophageal|laceration-hemorrhage, gastroesophageal|Lacerations-gastroesophageal junction, mucosal|Lacerations-gastroesophageal junctions, mucosal|gastroesophageal laceration-hemorrhage MESH:D008309|UMLS:C0024633|SCTID:35265002|GARD:0006967|NCIT:C84881 owl:Class UBERON:0002377 biolink:NamedThing muscle of neck tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011611 biolink:NamedThing short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting tmpaxzxjjyw_mondo_relaxed.owl short stature, mental retardation, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting|short stature, intellectual disability, callosal agenesis, Heminasal hypoplasia, microphthalmia, and atypical clefting UMLS:C1970039|OMIM:605856|MESH:C566989 owl:Class MONDO:0006599 biolink:NamedThing physical urticaria A distinct subgroup of the urticaria that are induced by an exogenous physical stimulus rather than occurring spontaneously. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060220|SCTID:402601007|EFO:1000754 Editor note: use ECTO to axiomatize owl:Class MONDO:0009283 biolink:NamedThing glutaric acidemia type 3 Glutaryl-CoA oxidase deficiency is a peroxisomal disorder leading to glutaric aciduria. The prevalence is unknown. There is no distinctive phenotype associated with this disorder and one of the reported cases was asymptomatic. Transmission appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Ga 3|GA3|SUGCT glutaric aciduria (disease)|glutaric acidemia type 3|glutaric acidemia type III|GA III|glutaric aciduria III|glutaric aciduria 3|glutaryl-Coa oxidase deficiency|glutaric aciduria type III|glutaric aciduria type 3|glutaric aciduria (disease) caused by mutation in SUGCT|glutaryl-CoA oxidase deficiency UMLS:C0342873|OMIM:231690|GARD:0012469|SCTID:238070003|ICD9:270.2|Orphanet:35706|ICD10:E72.3|MESH:C562818 https://rarediseases.info.nih.gov/diseases/12469/glutaric-acidemia-type-iii owl:Class HGNC:8877 biolink:NamedThing PFKM tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001622 biolink:NamedThing lacrimal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000197 biolink:NamedThing sensory receptor cell A cell that is capable of detection of a stimulus involved in sensory perception. tmpaxzxjjyw_mondo_relaxed.owl receptor cell cell owl:Class CL:0009042 biolink:NamedThing enteroendocrine cell of colon An enteroendocrine cell that is located in the colon. tmpaxzxjjyw_mondo_relaxed.owl colon enteroendocrine cell owl:Class MONDO:0021243 biolink:NamedThing parotid gland neoplasm A neoplasm (disease) that involves the parotid gland. tmpaxzxjjyw_mondo_relaxed.owl tumor of the parotid|parotid tumor|neoplasm of parotid gland|neoplasm of the parotid|neoplasm of the parotid gland|tumor of parotid|parotid gland neoplasm (disease)|tumor of parotid gland|parotid neoplasm|parotid gland tumor|neoplasm of parotid|tumor of the parotid gland EFO:0003873|SCTID:126788000|NCIT:C3314 owl:Class GO:0045620 biolink:NamedThing negative regulation of lymphocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl inhibition of lymphocyte differentiation|negative regulation of lymphocyte development|down-regulation of lymphocyte differentiation|downregulation of lymphocyte differentiation|down regulation of lymphocyte differentiation owl:Class MONDO:0100366 biolink:NamedThing occupational disorder Any disorder that is realized in response to an exposure to occupation. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3061 owl:Class MONDO:0002410 biolink:NamedThing pyeloureteritis cystica tmpaxzxjjyw_mondo_relaxed.owl DOID:2743|ICD10:N28.85|UMLS:C0156254|ICD9:590.3|SCTID:37779008 owl:Class MONDO:0011153 biolink:NamedThing hyperinsulinemic hypoglycemia, familial, 2 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene. tmpaxzxjjyw_mondo_relaxed.owl hyperinsulinemic hypoglycemia familial 2|hyperinsulinemic hypoglycemia due to Kir6.2 deficiency|Nesidioblastosis|hyperinsulinemic hypoglycemia, persistent|KCNJ11 hyperinsulinemic hypoglycemia (disease)|hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|HHF2|hyperinsulinism, familial|persistent hyperinsulinemic hypoglycemia of infancy|hyperinsulinemic hypoglycemia, familial, type 2|hyperinsulinemic hypoglycemia, familial, 2|hyperinsulinism, neonatal|hyperinsulinism, congenital GARD:0009927|OMIM:601820|Orphanet:79644|Orphanet:276580|DOID:0070218|UMLS:C2931833|Orphanet:276603 https://rarediseases.info.nih.gov/diseases/9927/hyperinsulinemic-hypoglycemia-familial-2 owl:Class MONDO:0019010 biolink:NamedThing congenital isolated hyperinsulinism Congenital isolated hyperinsulinism (CHI), a rare endocrine disease is the most frequent cause of severe and persistent hypoglycemia in the neonatal period and early infancy and is characterized by an excessive or uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia requiring rapid and intensive treatment to prevent neurological sequelae. CHI comprises 2 different forms: diazoxide-sensitive diffuse hyperinsulinism and diazoxide-resistant hyperinsulinism. tmpaxzxjjyw_mondo_relaxed.owl PHHI|chi|hyperinsulinism congenital|persistent hyperinsulinemic hypoglycemia of infancy|congenital hyperinsulinism|hyperinsulinemic hypoglycemia familial|hypoglycemia hyperinsulinemic of infancy|hyperinsulinism familial with pancreatic nesidioblastosis NCIT:C122923|GARD:0003947|Orphanet:657|ICD10:E16.1 owl:Class GO:0014064 biolink:NamedThing positive regulation of serotonin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of serotonin. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of serotonin secretion|positive regulation of serotonin release|activation of serotonin secretion|stimulation of serotonin secretion|up regulation of serotonin secretion|upregulation of serotonin secretion owl:Class UBERON:0004774 biolink:NamedThing inferior eyelid tarsus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004772 biolink:NamedThing eyelid tarsus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010654 biolink:NamedThing Partington syndrome A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl Partington X-linked mental retardation syndrome|X-linked Russell-Silver syndrome|PRTS|X-linked intellectual disability-dystonia-dysarthria syndrome|mental retardation, X-linked, with dystonic movements, ataxia, and seizures|intellectual disability, X-linked 36|Partington syndrome|intellectual disability, X-linked, syndromic 1|mental retardation, X-linked, syndromic 1|MRXS1|Partington X-linked intellectual disability syndrome|Partington-Mulley syndrome|mental retardation, X-linked 36|intellectual disability-dystonic movements-ataxia-seizures syndrome|intellectual disability, X-linked, with dystonic movements, ataxia, and seizures GARD:0004235|Orphanet:94083|DOID:14744|OMIM:309510 owl:Class GO:0034763 biolink:NamedThing negative regulation of transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl downregulation of transmembrane transport|inhibition of transmembrane transport|down regulation of transmembrane transport|down-regulation of transmembrane transport|negative regulation of membrane transport owl:Class MONDO:0017704 biolink:NamedThing familial partial epilepsy An instance of partial epilepsy that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary partial epilepsy|epilepsy, partial, familial Orphanet:309|UMLS:CN227178|GARD:0002173|ICD10:G40.1 https://rarediseases.info.nih.gov/diseases/2173/epilepsy-partial-familial owl:Class UBERON:0004248 biolink:NamedThing pedal digit bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012359 biolink:NamedThing pedal digitopodium bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015016 biolink:NamedThing anterior segment dysgenesis 6 tmpaxzxjjyw_mondo_relaxed.owl anterior segment dysgenesis type 6|anterior segment dysgenesis 6|ASGD6 OMIM:617315|UMLS:C4310623|DOID:0080611 owl:Class MONDO:0019503 biolink:NamedThing anterior segment dysgenesis A spectrum of developmental anomalies that affect the development of the anterior segment of the eyeball resulting from abnormalities of neural crest migration and differentiation during embryologic development (Axenfeld-Rieger syndrome, Peters anomaly, posterior keratoconus, and iridoschisis). tmpaxzxjjyw_mondo_relaxed.owl ASOD|ASGD|familial ocular anterior segment mesenchymal dysgenesis|anterior segment mesenchymal dysgenesis|anterior segment ocular dysgenesis|ASMD ICD10:Q13.8|ICD9:743.49|OMIMPS:107250|Orphanet:88632|GARD:0010025|OMIM:617315|SCTID:65075004|OMIM:617319|OMIM:107250 owl:Class MONDO:0020721 biolink:NamedThing X-linked sideroblastic anemia 1 tmpaxzxjjyw_mondo_relaxed.owl anemia, hereditary sideroblastic|erythroid 5-aminolevulinate synthase deficiency|X chromosome-linked sideroblastic anemia|SIDBA1|sideroblastic anemia X-linked|hereditary iron-loading Anemia|ANH1|sideroblastic anemia, X-linked|anemia, hypochromic|anemia, sideroblastic, 1|anemia, sideroblastic, X-linked|anemia sex-linked hypochromic sideroblastic|XLSA|X-linked sideroblastic anemia|anemia hereditary sideroblastic DOID:0060063|GARD:0009456|MESH:C536761|UMLS:C0221018|ICD10:D64.0|Orphanet:75563|OMIM:300751|SCTID:62677000 owl:Class MONDO:0015194 biolink:NamedThing sideroblastic anemia Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias. tmpaxzxjjyw_mondo_relaxed.owl sideroblastic anemia|anemia, hypochromic with iron loading|anemia, sideroblastic|anemia sideroblastic UMLS:C0002896|NCIT:C36078|GARD:0000667|DOID:8955|MESH:D000756|ICD10:D64.3|Orphanet:1047|ICD10:D64.1|SCTID:41841004|ICD10:D64.2|ICD10:D64.0|ICD9:285.0|MedDRA:10040661 owl:Class MONDO:0005426 biolink:NamedThing MRI defined brain infarct An infarct detected by MRI and not determined to be clinically significant tmpaxzxjjyw_mondo_relaxed.owl EFO:0004715 This term represents a finding not a disease, it may be obsoleted in future owl:Class HP:0000763 biolink:NamedThing Sensory neuropathy Peripheral neuropathy affecting the sensory nerves. tmpaxzxjjyw_mondo_relaxed.owl Damage to nerves that sense feeling|Peripheral sensory neuropathy UMLS:C0151313|SNOMEDCT_US:95662005 HP:0007043|HP:0003410|HP:0006815|HP:0007142 human_phenotype owl:Class MONDO:0000292 biolink:NamedThing philophthalmiasis A disease caused by infection with Philophthalmus. tmpaxzxjjyw_mondo_relaxed.owl Philophthalmus infectious disease|Philophthalmus caused disease or disorder|Philophthalmus disease or disorder DOID:0050250 owl:Class MONDO:0005217 biolink:NamedThing familial cardiomyopathy An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary cardiomyopathy OMIM:115200|SCTID:35728003|EFO:0002945|ICD9:425.4|UMLS:C0264789 owl:Class MONDO:0004457 biolink:NamedThing maxillary sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It is classified as inverted papilloma and oncocytic papilloma. tmpaxzxjjyw_mondo_relaxed.owl Schneiderian papilloma of maxillary sinus|maxillary sinus paranasal sinus Schneiderian papilloma|maxillary sinus Schneiderian papilloma|Schneiderian papilloma of the maxillary sinus|paranasal sinus Schneiderian papilloma of maxillary sinus UMLS:C1334646|NCIT:C6839|DOID:8093 owl:Class MONDO:0021484 biolink:NamedThing benign neoplasm of maxillary sinus A benign neoplasm that involves the maxillary sinus. tmpaxzxjjyw_mondo_relaxed.owl benign maxillary sinus tumor|benign maxillofacial sinus neoplasm|benign neoplasm of the maxillofacial sinus|benign neoplasm of maxillary antrum|benign neoplasm of the maxillary antrum|benign tumor of maxillary antrum|maxillary sinus benign neoplasm|benign tumor of the maxillofacial sinus|benign tumor of maxillary sinus|benign neoplasm of maxillofacial sinus|benign maxillofacial sinus tumor|benign tumor of maxillofacial sinus|benign tumor of the maxillary sinus|benign tumor of the maxillary antrum|benign neoplasm of the maxillary sinus|benign maxillary antrum tumor|benign maxillary antrum neoplasm|benign maxillary sinus neoplasm SCTID:92211008|ICD9:212.0|NCIT:C4414|UMLS:C0345666 owl:Class MONDO:0016775 biolink:NamedThing lichen planus pemphigoides Lichen planus (LP) pemphigoides is a rare cross-over syndrome between lichen planus and bullous pemphigoid. tmpaxzxjjyw_mondo_relaxed.owl LP pemphigoides Orphanet:254478|UMLS:C0406369|GARD:0012677|ICD10:L43.8|SCTID:238653005 https://rarediseases.info.nih.gov/diseases/12677/lichen-planus-pemphigoides owl:Class MONDO:0006572 biolink:NamedThing lichen planus A chronic, recurrent, pruritic inflammatory disorder of unknown etiology that affects the skin and mucus membranes. It presents with rashes and papules that tend to resolve spontaneously. It may be associated with hepatitis C. Certain drugs that contain arsenic or bismuth are associated with reactions mimicking lichen planus. tmpaxzxjjyw_mondo_relaxed.owl lichen ruber planus|ruber planus|lichen, ruber planus NCIT:C3189|SCTID:4776004|DOID:9201|ICD10:L43.9|EFO:1000726|UMLS:C0023646|MESH:D008010|ICD9:697.0|ICD10:L43 owl:Class OBO:CHR_9606-chr10p biolink:NamedThing 10p (Human) tmpaxzxjjyw_mondo_relaxed.owl 39800000 0 hg38 owl:Class MONDO:0017591 biolink:NamedThing combined pulmonary fibrosis-emphysema syndrome tmpaxzxjjyw_mondo_relaxed.owl CPFE ICD10:J84.1|Orphanet:300564|UMLS:CN203401 owl:Class MONDO:0027029 biolink:NamedThing HHV-6 encephalitis HHV-6 encephalitis refers to inflammation of the brain due to an infection with human herpesvirus 6. People who have undergone allogeneic hematopoietic cell transplantation are at an increased risk for developing HHV-6 encephalitis, particularly when umbilical cord blood stem cells are used. People with immune system disorders may also be at an increased risk for developing this infection. Signs and symptoms vary, but often include confusion, anterograde amnesia (difficulty learning new information following the onset of amnesia), short-term memory loss, and seizures.Diagnosis often involves lumbar puncture, virus testing, and MRI. EEG 's may also be recommendedwhen seizures are suspected. HHV-6 encephalitis is treated with an antiviral agent with activity against HHV-6. Long term outlook (chance of full recovery) can vary considerably depending individual patient factors. tmpaxzxjjyw_mondo_relaxed.owl Variant A or HHV-6A|Human Herpesvirus 6 encephalitis|Variant B or HHV-6B GARD:0009667 owl:Class MONDO:0015830 biolink:NamedThing partial bilateral aplasia of the mullerian ducts tmpaxzxjjyw_mondo_relaxed.owl partial bilateral aplasia of the Müllerian ducts|incomplete bilateral aplasia of the Mullerian ducts|incomplete bilateral aplasia of the Müllerian ducts ICD10:Q51.8|Orphanet:180068 owl:Class MONDO:0019128 biolink:NamedThing mullerian aplasia tmpaxzxjjyw_mondo_relaxed.owl aplasia of the Müllerian ducts|Müllerian aplasia|Mullerian duct failure|Müllerian duct failure|aplasia of the Mullerian ducts SCTID:253828000|MESH:C537371|Orphanet:73217 owl:Class MONDO:0024615 biolink:NamedThing T-cell and NK-cell neoplasm tmpaxzxjjyw_mondo_relaxed.owl T-cell and NK-cell neoplasm|T-cell neoplasm NCIT:C27908|UMLS:C1336554 owl:Class MONDO:0005157 biolink:NamedThing lymphoid neoplasm A neoplasm composed of a lymphocytic cell population which is usually malignant (clonal) by molecular genetic and/or immunophenotypic analysis. Lymphocytic neoplasms include Hodgkin and non-Hodgkin lymphomas, acute and chronic lymphocytic leukemias, and plasma cell neoplasms. tmpaxzxjjyw_mondo_relaxed.owl lymphoid tumor|lymphoid and plasmacytic tumour|lymphocytic and plasma cell tumour|lymphocytic and plasma cell tumor|lymphocytic neoplasm|lymphoid and plasma cell tumour|lymphoid and plasmacytic tumor|lymphoid and plasmacytic neoplasm|lymphocytic and plasmacytic neoplasm|lymphoid neoplasm|lymphocytic and plasma cell neoplasm|lymphoid and plasma cell tumor|lymphocytic tumor UMLS:C0598798|NCIT:C7065|EFO:0001642|ONCOTREE:LYMPH|MESH:D016403|ICD9:200.7 owl:Class MONDO:0023179 biolink:NamedThing fragile X syndrome type 2 tmpaxzxjjyw_mondo_relaxed.owl GARD:0002367 https://rarediseases.info.nih.gov/diseases/2367/fragile-x-syndrome-type-2 owl:Class MONDO:0010383 biolink:NamedThing fragile X syndrome A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. tmpaxzxjjyw_mondo_relaxed.owl fragile X mental retardation syndrome|X-linked mental retardation and macroorchidism|FRAXA syndrome|marker 10 syndrome|fragile 10 mental retardation syndrome|fragile 10 intellectual disability syndrome|primary ovarian insufficiency, fragile X-associated|fragile 10 syndrome|mental retardation, X-linked, associated with Marxq28|X-linked intellectual disability and macroorchidism|fragile 10 premature ovarian failure|fra(X) syndrome|FXS|marker X syndrome|FraX syndrome|Martin-Bell syndrome|fragile X intellectual disability syndrome|fragile X syndrome|intellectual disability, X-linked, associated with Marxq28 OMIM:300624|DOID:14261|Orphanet:908|ICD9:759.83|GARD:0006464|ICD10:Q99.2|MESH:D005600|NCIT:C84717|UMLS:C0016667|MedDRA:10017324|SCTID:613003 owl:Class CL:0000954 biolink:NamedThing small pre-B-II cell A small pre-B-II cell is a pre-B-II cell that is Rag1-positive, Rag2-positive, pre-BCR-negative, and BCR-negative, is not proliferating, and carries a DNA rearrangement of one or more immunoglobulin light chain genes. tmpaxzxjjyw_mondo_relaxed.owl small pre-BII cell Small pre-B-II cells are also reportedly CD10-positive, CD19-positive, CD34-negative, CD79a-positive, CD127-negative, TdT-negative, Vpre-B-negative, sIgM-negative, and sIgD-negative. Transcription factors: PU.1-positive, Ikaros-positive, E2A-positive, and PAX5-positive. cell owl:Class CL:0000955 biolink:NamedThing pre-B-II cell A pre-B-II cell is a precursor B cell that expresses immunoglobulin mu heavy chain (IgHmu+), and lack expression of CD34, TdT, immunoglobulin kappa light chain and immunoglobulin lambda light chain. tmpaxzxjjyw_mondo_relaxed.owl pre-BII cell|pre-B-lymphocyte BTO:0001133|CALOHA:TS-0819 pre-B-II cell are also reportedly CD19-positive, CD22-positive, CD38-positive, CD45-positive, and CD48-positive. cell owl:Class CHEBI:16189 biolink:NamedThing sulfate A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid. tmpaxzxjjyw_mondo_relaxed.owl sulphate|tetraoxidosulfate(2-)|Sulfate|Sulfuric acid ion(2-)|Sulfate dianion|sulphate ion|Sulfate(2-)|tetraoxosulfate(VI)|sulfate|SULFATE ION|[SO4](2-)|Sulfate anion(2-)|tetraoxosulfate(2-)|SO4(2-) owl:Class GO:1902113 biolink:NamedThing nucleotide phosphorylation involved in DNA repair Any nucleotide phosphorylation that is involved in DNA repair. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046939 biolink:NamedThing nucleotide phosphorylation The process of introducing one or more phosphate groups into a nucleotide to produce a phosphorylated nucleoside. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010193 biolink:NamedThing Weaver syndrome Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. tmpaxzxjjyw_mondo_relaxed.owl WEAVER syndrome|WEAVER-like syndrome|intellectual disability, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate|Weaver Smith syndrome|Weaver Williams syndrome|EZH2 related overgrowth|overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly|camptodactyly-overgrowth-unusual facies syndrome|Weaver syndrome|Weaver-Smith syndrome|WVS|camptodactyly - overgrowth - unusual facies|mental retardation, microcephaly, weight deficiency, unusual facies, clinodactyly, bone hypoplasia, and cleft palate|Weaver-like syndrome|Weaver like syndrome ICD10:Q87.3|SCTID:63119004|GTR:AN0102080|Orphanet:3447|UMLS:C0265210|NCIT:C125599|GTR:AN0102079|DOID:14731|GARD:0007878|OMIM:277590|UMLS:CN036342|ICD9:759.89|MESH:C536687 owl:Class MONDO:0003112 biolink:NamedThing malignant gastric germ cell tumor A malignant germ cell tumor that arises from the stomach. It includes choriocarcinoma and immature teratoma. tmpaxzxjjyw_mondo_relaxed.owl malignant germ cell neoplasm of stomach|malignant germ cell tumor of the stomach|malignant germ cell neoplasm of the stomach|malignant germ cell tumor of stomach|malignant gastric germ cell neoplasm|malignant gastric germ cell tumor|germ cell tumor of the stomach DOID:4716|UMLS:C1334584|NCIT:C5486|UMLS:C1333769 owl:Class MONDO:0004289 biolink:NamedThing glottis verrucous carcinoma An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the glottic area of the larynx. It usually presents with hoarseness. tmpaxzxjjyw_mondo_relaxed.owl glottis verrucous carcinoma|glottic verrucous carcinoma|verrucous carcinoma of glottis|verrucous carcinoma of the glottis DOID:7583|NCIT:C8189|UMLS:C0280329 owl:Class MONDO:0004080 biolink:NamedThing glottis squamous cell carcinoma A squamous cell carcinoma of the larynx that arises from the glottic area. It may remain localized for a long period then in late disease stage, it may spread to the opposite true vocal cord, supraglottic and subglottic areas, and the soft tissues of the neck. Hoarseness is the presenting symptom. tmpaxzxjjyw_mondo_relaxed.owl glottis squamous cell carcinoma|squamous cell carcinoma of the glottis|glottis epidermoid carcinoma|glottic epidermoid carcinoma|epidermoid carcinoma of glottis|epidermoid carcinoma of the glottis|glottic squamous cell carcinoma|squamous cell carcinoma of glottis DOID:7031|NCIT:C8186|UMLS:C0280325 owl:Class MONDO:0017951 biolink:NamedThing trichorhinophalangeal syndrome tmpaxzxjjyw_mondo_relaxed.owl TRPS Orphanet:324764|ICD10:Q87.8|ICD9:759.89|SCTID:18077009|UMLS:C0265255|OMIMPS:190350 owl:Class MONDO:0006812 biolink:NamedThing intracranial vasospasm Constriction of arteries in the skull due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and brain ischemia that may lead to hypoxic-ischemic brain injury (hypoxia-ischemia, brain). tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751895|EFO:1000994|DOID:13100|MESH:D020301 owl:Class MONDO:0011057 biolink:NamedThing cerebrovascular disorder A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. tmpaxzxjjyw_mondo_relaxed.owl CVA (cerebral vascular accident)|cerebral infarction|cerebrovascular accident|cerebrovascular disease|stroke|cerebrovascular disorder|CVA MESH:D020521|ICD9:434.91|SCTID:62914000|ICD9:437.9|EFO:0003763|ICD10:I63.9|MESH:D002561|SCTID:230690007|ICD9:437.8|ICD10:I60.I69|OMIM:601367|DOID:6713|ICD10:I60-I69|ICD9:430-438.99|EFO:0000712|NCIT:C2938|ICD10:I67.9|UMLS:C0007820|NCIT:C3390 owl:Class UBERON:0035049 biolink:NamedThing excretory duct of salivary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014598 biolink:NamedThing developmental and epileptic encephalopathy, 31 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene. tmpaxzxjjyw_mondo_relaxed.owl DEE31|epileptic encephalopathy, early infantile, 31|EIEE31|early infantile epileptic encephalopathy caused by mutation in DNM1|DNM1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 31 DOID:0080437|UMLS:C4225357|Orphanet:2382|OMIM:616346 owl:Class MONDO:0021016 biolink:NamedThing channelopathy A disease caused by disturbed function of ion channel subunits or the proteins that regulate them. tmpaxzxjjyw_mondo_relaxed.owl ion channel activity disease|disorder of ion channel activity MESH:D053447|UMLS:C1720983 owl:Class MONDO:0001706 biolink:NamedThing cerebral sarcoidosis Sarcoidosis of the cerebrum. tmpaxzxjjyw_mondo_relaxed.owl cerebral sarcoidosis|sarcoidosis of telencephalon|telencephalon sarcoidosis DOID:13403|NCIT:C35441|SCTID:111936002|UMLS:C0398676 owl:Class ECTO:9001942 biolink:NamedThing exposure to food additive An exposure to food additive. tmpaxzxjjyw_mondo_relaxed.owl exposure to food additive owl:Class ECTO:9002063 biolink:NamedThing exposure to food component An exposure to food component. tmpaxzxjjyw_mondo_relaxed.owl exposure to food component owl:Class MONDO:0001953 biolink:NamedThing pyuria The presence of excessive white blood cells in the urine as determined by urinalysis. tmpaxzxjjyw_mondo_relaxed.owl pyuria (disease)|pus cells in urine|pyuria pyuria (disease) NCIT:C119028|HP:0012085|MESH:D011776|DOID:1439 owl:Class MONDO:0001092 biolink:NamedThing colon leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the colon. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of colon|colonic leiomyoma|colon leiomyoma|leiomyoma of the colon DOID:10656|UMLS:C1333092|NCIT:C5492 owl:Class MONDO:0005994 biolink:NamedThing trichostrongyloidiasis Infection by roundworms of the superfamily trichostrongyloidea, including the genera trichostrongylus; ostertagia; Cooperia, haemonchus; Nematodirus, Hyostrongylus, and dictyocaulus. tmpaxzxjjyw_mondo_relaxed.owl Trichostrongyloidea infectious disease|Trichostrongyloidea caused disease or disorder|Trichostrongyloidea disease or disorder DOID:1255|UMLS:C0040947|EFO:0007522|MESH:D014252 owl:Class MONDO:0020179 biolink:NamedThing palpebral nevus A melanocytic nevus that involves the skin of eyelid. tmpaxzxjjyw_mondo_relaxed.owl skin of eyelid melanocytic nevus|melanocytic nevus of skin of eyelid|eyelid nevus|nevus of eyelid|nevus of the eyelid UMLS:C0239460|NCIT:C3880|SCTID:231827008|Orphanet:98588 owl:Class MONDO:0020173 biolink:NamedThing benign tumor of palpebral epidermis A benign neoplasm that involves the skin of eyelid. tmpaxzxjjyw_mondo_relaxed.owl skin of eyelid benign neoplasm Orphanet:98582|UMLS:CN207034 owl:Class MONDO:0017235 biolink:NamedThing familial omphalocele syndrome with facial dysmorphism Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202726|Orphanet:280403 owl:Class GO:0097447 biolink:NamedThing dendritic tree The entire complement of dendrites for a neuron, consisting of each primary dendrite and all its branches. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043005 biolink:NamedThing neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. tmpaxzxjjyw_mondo_relaxed.owl neurite|neuronal cell projection|neuron protrusion|neuron process|nerve fiber owl:Class MONDO:0017139 biolink:NamedThing oromandibular-limb hypogenesis syndrome Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). tmpaxzxjjyw_mondo_relaxed.owl oro-mandibular-limb hypogenesis syndrome|Oroacral syndrome ICD10:Q87.5|Orphanet:2749|GARD:0004116|UMLS:CN202556 owl:Class MONDO:0000327 biolink:NamedThing Buruli ulcer disease A cutaneous infection caused by Mycobacterium ulcerans. It presents with painless nodular swelling of the skin, leading to the formation of necrotizing ulcers. tmpaxzxjjyw_mondo_relaxed.owl Bairnsdale ulcer|Mycobacterium ulcerans caused disease or disorder|Mycobacterium ulcerans disease or disorder|Searl ulcer|Searle's ulcer|Mossman ulcer|Mycobacterium ulcerans infectious disease|Daintree ulcer|Buruli ulcer NCIT:C84604|DOID:0050456|MESH:D054312|ICD10:A31.1|EFO:1001281|SCTID:15845006|UMLS:C0085568 owl:Class MONDO:0016127 biolink:NamedThing bacterial myositis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:206994|SCTID:30330001|ICD10:M60.0 owl:Class MONDO:0017527 biolink:NamedThing polydactyly of an index finger, unilateral tmpaxzxjjyw_mondo_relaxed.owl preaxial polydactyly type 3, unilateral UMLS:CN203258|Orphanet:295152|ICD10:Q69.0 owl:Class MONDO:0008271 biolink:NamedThing polydactyly of an index finger Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962. tmpaxzxjjyw_mondo_relaxed.owl preaxial polydactyly type 3|polydactyly, preaxial 3|polydactyly, preaxial III|index finger polydactyly|PPD3|polydactyly, preaxial type 3 OMIM:174600|GARD:0002256|UMLS:C1868113|MESH:C566784|SCTID:723446006|ICD10:Q69.0|Orphanet:93337 owl:Class MONDO:0019580 biolink:NamedThing papular mucinosis of infancy Papular mucinosis of infancy is a rare pediatric non progressive form of localized lichen myxedematosus characterized by the development of firm opalescent mucinous papules on the upper arms and the trunk. tmpaxzxjjyw_mondo_relaxed.owl cutaneous mucinosis of infancy Orphanet:90395|UMLS:C4273966|ICD10:L98.5|SCTID:717259002 owl:Class MONDO:0019446 biolink:NamedThing localized lichen myxedematosus Localized lichen myxedematosus is a group of skin diseases characterized by the development of papules, nodules and/or plaques with mucin deposits and a variable degree of fibrosis in the absence of thyroid disease. The group comprises five sub-forms: nodular lichen myxedematosus, discrete papular lichen myxedematosus, papular mucinosis of infancy, acral persistent papular mucinosis and self-healing papular mucinosis. tmpaxzxjjyw_mondo_relaxed.owl papular mucinosis Orphanet:86795|ICD10:L98.5|UMLS:C0263390|GARD:0007321 owl:Class UBERON:0003953 biolink:NamedThing posterior stroma of cornea tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012766 biolink:NamedThing hereditary spastic paraplegia 37 Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant spastic paraplegia 37|spastic paraplegia 37, autosomal dominant|autosomal dominant spastic paraplegia type 37|SPG37|hereditary spastic paraplegia type 37 ICD10:G11.4|MESH:C567931|SCTID:763369007|DOID:0110788|OMIM:611945|UMLS:C2936880|Orphanet:171612 owl:Class MONDO:0015088 biolink:NamedThing autosomal dominant pure spastic paraplegia Autosomal dominant form of pure hereditary spastic paraplegia. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant uncomplicated HSP|autosomal dominant uncomplicated spastic paraplegia|autosomal dominant pure SPG|autosomal dominant pure HSP|autosomal dominant uncomplicated SPG|pure hereditary spastic paraplegia, autosomal dominant|autosomal dominant pure hereditary spastic paraplegia UMLS:CN226594|Orphanet:100980|ICD10:G11.4 owl:Class UBERON:0000999 biolink:NamedThing ejaculatory duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013774 biolink:NamedThing diaphysis of metatarsal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000225 biolink:NamedThing anucleate cell A cell that lacks a nucleus. tmpaxzxjjyw_mondo_relaxed.owl non-nucleated cell FMA:68647 cell owl:Class ENVO:01001654 biolink:NamedThing aerosol formation process A material transformation process during which solid or liquid particles form and are suspended in a mass of air, thus creating an aerosol. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009903 biolink:NamedThing postaxial acrofacial dysostosis Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl postaxial acrodysostosis|postaxial acrofacial dysostosis (POADS) syndrome|Genee-Wiedemann acrofacial dysostosis|acrofacial dysostosis, Genee-Wiedmann type|Genee-Wiedemann syndrome|Mandibulfacial dysostosis with postaxial limb anomalies|POADS|postaxial acrofacial dysostosis|Miller syndrome|Wildervanck-Smith syndrome|GWAFD|POADS syndrome Orphanet:246|DOID:0111259|GARD:0008410|UMLS:C0265257|ICD9:759.89|SCTID:66038001|MESH:C537680|ICD10:Q75.4|OMIM:263750 owl:Class MONDO:0020162 biolink:NamedThing secondary ectropion tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98571|ICD10:H02.1 owl:Class MONDO:0021808 biolink:NamedThing acute cholinergic dysautonomia A primary dysautonomia characterized by hypohidrosis and selective parasympathetic peripheral autonomic nerve disturbances of acute onset. tmpaxzxjjyw_mondo_relaxed.owl ACD MESH:C535672|UMLS:C2930973|GARD:0009394 https://rarediseases.info.nih.gov/diseases/9394/acute-cholinergic-dysautonomia owl:Class MONDO:0021809 biolink:NamedThing primary dysautonomia Disorders of the autonomic nervous system occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the blood pressure and heart rate. tmpaxzxjjyw_mondo_relaxed.owl dysautonomia, primary|Dysautonomias, primary|Dysautonomias|dysautonomia|primary dysautonomia MESH:D054969 owl:Class MONDO:0021143 biolink:NamedThing melanocytic neoplasm tmpaxzxjjyw_mondo_relaxed.owl melanocytic neoplasm|melanomas and nevi MESH:D018326|SCTID:399956005|UMLS:C1302746|NCIT:C7058 owl:Class UBERON:0004262 biolink:NamedThing upper leg skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0033674 biolink:NamedThing positive regulation of kinase activity Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl up regulation of kinase activity|upregulation of kinase activity|stimulation of kinase activity|kinase activator|up-regulation of kinase activity owl:Class MONDO:0100407 biolink:NamedThing acute myeloid leukemia, t(11;15)(p15;q35) Any acute myeloid leukemia that has the chromosomal anomaly t(11;15)(p15;q35). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 15q35. It results in the formation of NUP98/JARID1A fusion gene. It is associated with the development of acute myeloid leukemia with t(11;15)(p15;q35); NUP98-JARID1A.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(11;15)(p15;q35) NCIT:C131504|NCIT:C131505 owl:Class MONDO:0014720 biolink:NamedThing autosomal dominant optic atrophy plus syndrome Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness. tmpaxzxjjyw_mondo_relaxed.owl optic atrophy-deafness-polyneuropathy-myopathy syndrome|DOA+|optic atrophy type 8|optic atrophy - deafness- polyneuropathy - myopathy|Treft-Sanborn-Carey syndrome|dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy Orphanet:1215|OMIM:165199|DOID:0111340|UMLS:C1852267|UMLS:C4275164|GARD:0005243|OMIM:616648|MESH:C535351|SCTID:715374003|ICD10:H47.2|OMIM:125250 owl:Class MONDO:0020250 biolink:NamedThing autosomal dominant optic atrophy An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss. tmpaxzxjjyw_mondo_relaxed.owl ADOA|DOA|optic atrophy, autosomal dominant|dominant optic atrophy ICD10:H47.2|GARD:0011972|SCTID:2065009|MESH:D029241|Orphanet:98672|UMLS:C0338508|NCIT:C84577 owl:Class UBERON:0035075 biolink:NamedThing thymus subunit tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019600 biolink:NamedThing xeroderma pigmentosum Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV). tmpaxzxjjyw_mondo_relaxed.owl angioma pigmentosum atrophicum|xeroderma of Kaposi|xeroderma pigmentosa|xeroderma pigmentosum syndrome|pigmented epitheliomatosis|XP|atrophoderma pigmentosum|melanosis lenticularis progressiva|Kaposi disease|Kaposi dermatosis OMIM:278740|ICD10:Q82.1|OMIM:278760|DOID:0050427|OMIM:278730|Orphanet:910|UMLS:C0043346|SCTID:44600005|OMIM:278720|GARD:0007910|OMIM:278700|OMIM:194400|MedDRA:10048220|MESH:D014983|OMIM:610651|NCIT:C3452|OMIM:278780 https://rarediseases.info.nih.gov/diseases/7910/xeroderma-pigmentosum owl:Class MONDO:0006651 biolink:NamedThing anterior uveitis Inflammation of the iris and anterior chamber of the eye. tmpaxzxjjyw_mondo_relaxed.owl anterior uveitis (disease)|iridocyclitis|anterior uveitis anterior uveitis (disease) Orphanet:280886|MedDRA:10002709|SCTID:410692006|NCIT:C35109|CSP:1114-9593|ICD10:H20.0|GARD:0010941|SCTID:77971008|ICD10:H20.2|UMLS:C0042165|EFO:1000811|DOID:1407|ICD10:H20.1|HP:0012122|MESH:D014606|ICD10:H20.8|UMLS:C0022073|ICD10:H20.9 owl:Class MONDO:0100455 biolink:NamedThing neonatal-onset developmental and epileptic encephalopathy A complex neurodevelopmental disorder characterized by a neonatal onset of recurrent seizures, an abnormal neonatal electroencephalographic background with multifocal epileptiform discharges, excessive discontinuity, and/or burst-suppression patterns, and encephalopathy. Seizures may be pharmacoresistant or responsive. Developmental delays persist but vary in severity. In some individuals, subsequent evolution to other epileptic encephalopathy syndromes (e.g. West syndrome) may occur. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4058 owl:Class MONDO:0033198 biolink:NamedThing hearing loss, autosomal recessive 106 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 106|DFNB106|autosomal recessive nonsyndromic deafness 106 DOID:0080261|Orphanet:90636|OMIM:617637 owl:Class MONDO:0044745 biolink:NamedThing nervous system injury Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures. tmpaxzxjjyw_mondo_relaxed.owl injury, nervous system|nervous system Traumas|craniocervical Injuries|injury of nervous system|nervous system trauma|Injuries, nervous system|craniocervical injury|injury, craniocervical|Injuries, craniocervical|nervous system Injuries|nervous system injury SCTID:128239009|MESH:D020196 owl:Class MONDO:0005459 biolink:NamedThing human African trypanosomiasis A parasitic disorder caused by protozoa of the Trypanosoma brucei species. It is transmitted by flies and is endemic in various regions of Sub-Saharan Africa. Signs and symptoms include fever, joint pain, headache, and significant swelling of the lymph nodes. If left untreated, the parasitic infection causes anemia, heart, kidney, and endocrine failure, and neurologic damage. Subsequently patients develop confusion, disruption of the sleep cycle, and mental deterioration. The infection may lead to coma and death. tmpaxzxjjyw_mondo_relaxed.owl sleeping sickness|Africam sleeping sickness|African sleeping sickness|African trypanosomiasis DOID:10112|UMLS:C0041228|SCTID:27031003|ICD10:B56.9|MedDRA:10001461|ICD10:B56|ICD9:086.5|ICD10:B56.0|Orphanet:3385|NCIT:C84541|SCTID:78940002|ICD10:B56.1|GARD:0007826|MESH:D014353|EFO:0005225|KEGG:05143 MONDO:0018073 owl:Class MONDO:0006375 biolink:NamedThing placental hemangioma A hemangioma arising from the fetal blood vessels in the placental villi. tmpaxzxjjyw_mondo_relaxed.owl chorioangioma|hemangioma of the placenta|Chorangioma of the placenta|angioma of the placenta|placental angioma|placental hemangioma|hemangioma of placenta|Chorangioma placentae|placenta hemangioma|Chorangioma|angioma of placenta ICD9:219.8|MESH:D006391|SCTID:237268002|EFO:1000480|NCIT:C4868|DOID:277|UMLS:C0677608 owl:Class MONDO:0021498 biolink:NamedThing benign neoplasm of placenta A benign neoplasm that involves the placenta. tmpaxzxjjyw_mondo_relaxed.owl placental neoplasms, benign|benign placental neoplasm|placenta benign neoplasm|benign neoplasm of the placenta|benign tumor of placenta|benign tumor of the placenta|benign placenta tumor|benign placental tumor|benign placenta neoplasm NCIT:C8545|SCTID:92297008|ICD9:219.8|UMLS:C0686274 owl:Class UBERON:0002407 biolink:NamedThing pericardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:697 biolink:NamedThing ARL6IP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012334 biolink:NamedThing hereditary spastic paraplegia 29 Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. tmpaxzxjjyw_mondo_relaxed.owl SPG29|spastic paraplegia 29, autosomal dominant|hereditary spastic paraplegia type 29|spastic paraplegia 29|autosomal dominant spastic paraplegia type 29|autosomal dominant spastic paraplegia 29 OMIM:609727|GARD:0009729|ICD10:G11.4|MESH:C536863|UMLS:C1857855|DOID:0110780|SCTID:733029008|Orphanet:101009 owl:Class MONDO:0004441 biolink:NamedThing childhood ovarian embryonal carcinoma An embryonal carcinoma that arises from the ovary and occurs in children. tmpaxzxjjyw_mondo_relaxed.owl pediatric embryonal carcinoma of the ovary|childhood embryonal carcinoma of the ovary|pediatric ovarian embryonal carcinoma|ovarian embryonal carcinoma of childhood|pediatric embryonal carcinoma of ovary|childhood embryonal carcinoma of ovary UMLS:C1332989|NCIT:C6546|DOID:8036 owl:Class MONDO:0020577 biolink:NamedThing childhood gonadal germ cell tumor A germ cell tumor that arises from the testis or ovary and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl gonadal germ cell tumor of childhood|pediatric gonadal germ cell tumor|childhood gonadal germ cell tumor UMLS:C3899657|NCIT:C114801 owl:Class UBERON:0009291 biolink:NamedThing cartilaginous vertebral centrum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016491 biolink:NamedThing vertebral centrum element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004785 biolink:NamedThing respiratory system mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006337 biolink:NamedThing ovarian endometriosis A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions. tmpaxzxjjyw_mondo_relaxed.owl endometriosis (disease) of ovary|endometriosis of ovary|ovarian endometriosis|ovary endometriosis (disease) ICD9:617.1|NCIT:C27628|EFO:1000418|SCTID:266589005|UMLS:C0156344|ICD10:N80.1|DOID:11432 owl:Class MONDO:0005133 biolink:NamedThing endometriosis The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. tmpaxzxjjyw_mondo_relaxed.owl endometriosis (disease)|endometriosis endometriosis (disease) SCTID:129103003|ICD9:617.8|MESH:D004715|ICD10:N80|ICD9:617|ICD9:617.9|DOID:289|EFO:0001065|NCIT:C3014|HP:0030127|ICD10:N80.9 owl:Class MONDO:0006364 biolink:NamedThing peritoneal well differentiated papillary mesothelioma A localized or multifocal mesothelioma arising from the peritoneum. It predominantly occurs in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to diffuse malignant mesothelioma. tmpaxzxjjyw_mondo_relaxed.owl peritoneal WDPM|peritoneal well differentiated papillary mesothelioma EFO:1000469|UMLS:C1709507|NCIT:C45661 owl:Class MONDO:0006362 biolink:NamedThing peritoneal mesothelioma A benign or malignant mesothelial neoplasm that arises from the peritoneum. tmpaxzxjjyw_mondo_relaxed.owl mesothelioma of the peritoneum|peritoneum mesothelioma|mesothelioma of peritoneum|peritoneal mesothelioma|peritoneal mesothelioma (disease) peritoneal mesothelioma (disease) SCTID:109853004|NCIT:C7633|ONCOTREE:PEMESO|ICD10:C45.1|HP:0100003|EFO:1000467 owl:Class MONDO:0003024 biolink:NamedThing breast angiosarcoma A malignant vascular neoplasm arising from the breast. tmpaxzxjjyw_mondo_relaxed.owl hemangiosarcoma of breast|angiosarcoma of the breast|BA|angiosarcoma of breast|angiosarcoma (disease) of breast|breast angiosarcoma|hemangiosarcoma of the breast|breast hemangiosarcoma|breast angiosarcoma (disease) NCIT:C5184|MESH:C536368|GARD:0009974|DOID:4511|ONCOTREE:BA|UMLS:C1332614 https://rarediseases.info.nih.gov/diseases/9974/angiosarcoma-of-the-breast owl:Class MONDO:0007425 biolink:NamedThing deafness, sensorineural, with peripheral neuropathy and arterial disease tmpaxzxjjyw_mondo_relaxed.owl deafness, sensorineural, with peripheral neuropathy and arterial disease OMIM:124950|MESH:C565120|UMLS:C1852280 owl:Class MONDO:0001558 biolink:NamedThing Potter sequence A rare, lethal congenital malformation characterized by bilateral renal agenesis and the absence or decreased volume of amniotic fluid (oligohydramnios). The presence of oligohydramnios gives rise to congenital anomalies that include hypoplastic lungs, lower extremities abnormalities, and characteristic facial features (low-set ears, widely separated eyes, nose flattening, and receding chin). Newborn infants usually die of respiratory failure. tmpaxzxjjyw_mondo_relaxed.owl Potter syndrome|oligohydramnios sequence|Potter's syndrome|Potter's sequence DOID:12594|ICD10:Q60.6|GARD:0004462|UMLS:C0178426|NCIT:C40435|SCTID:41962002 Editor note: check for subtypes, relationship to OMIM:263200 owl:Class HGNC:8818 biolink:NamedThing SLC26A4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013712 biolink:NamedThing surfactant metabolism dysfunction, pulmonary, 5 Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene. tmpaxzxjjyw_mondo_relaxed.owl Pap due to Csf2Rb deficiency|pulmonary alveolar proteinosis 5|surfactant metabolism dysfunction, pulmonary, type 5|surfactant metabolism dysfunction, pulmonary, 5|SMDP5|Csf2Rb deficiency|hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB|CSF2RB hereditary pulmonary alveolar proteinosis Orphanet:264675|UMLS:C3280574|OMIM:614370 owl:Class MONDO:0020808 biolink:NamedThing testicular sertoli cell tumor A sex cord-stromal tumor that arises from the testis and is characterized by the presence of neoplastic cells with features of Sertoli cells. It usually presents as a slow growing testicular mass. The vast majority of cases follow a benign clinical course. tmpaxzxjjyw_mondo_relaxed.owl Testicular Sertoli Cell Tumor, Not Otherwise Specified|Sertoli Cell Neoplasm of Testis|Sertoli Cell Neoplasm of the Testis|Testicular Sertoli Cell Tumor, NOS|Testicular Sertoli Cell Tumor|Sertoli Cell Tumor of Testis|Testicular Sertoli Cell Neoplasm|Sertoli Cell Tumor of the Testis NCIT:C4672 owl:Class MONDO:0010852 biolink:NamedThing chromosome 8Q12.1-q21.2 deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl chromosome 8Q12.1-q21.2 deletion syndrome|Branchio-Oto-renal Duane hydrocephalus contiguous gene syndrome|bor-Duane hydrocephalus contiguous Gene syndrome OMIM:600257|MESH:C536574|UMLS:C1838346|GARD:0010002 owl:Class MONDO:0000990 biolink:NamedThing acute subendocardial myocardial infarction Acute form of subendocardial myocardial infarction. tmpaxzxjjyw_mondo_relaxed.owl acute nontransmural infarction|acute subendocardial infarction|subendocardial infarction acute myocardial infarction|subendocardial myocardial infarction, acute ICD9:410.7|UMLS:C0264710|ICD9:410.71|ICD9:410.70|SCTID:70422006|ICD9:410.72|DOID:10266 owl:Class MONDO:0003674 biolink:NamedThing subendocardial myocardial infarction An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the subendocardial layer of the wall of the heart. tmpaxzxjjyw_mondo_relaxed.owl subendocardium layer myocardial infarction (disease)|myocardial infarction (disease) of subendocardium layer UMLS:C0262568|NCIT:C35305|DOID:5849 owl:Class MONDO:0007686 biolink:NamedThing gray platelet syndrome Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear. tmpaxzxjjyw_mondo_relaxed.owl GPS|grey platelet syndrome|Alpha storage pool deficiency|BDPLT4|platelet alpha-granule deficiency|marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins|gray platelet syndrome|bleeding disorder, Platelet-type, 4|platelet-type bleeding disorder 4 UMLS:CN205641|ICD10:D69.1|SCTID:51720005|OMIM:139090|MESH:D055652|UMLS:C2717750|Orphanet:721|DOID:0111044|GARD:0002562|UMLS:C0272302|NCIT:C84741|OMIM:187900 https://rarediseases.info.nih.gov/diseases/2562/gray-platelet-syndrome owl:Class MONDO:0014870 biolink:NamedThing NEK9-related lethal skeletal dysplasia NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated. tmpaxzxjjyw_mondo_relaxed.owl lethal congenital contracture syndrome type 10|LCCS10|lethal congenital contracture syndrome 10|lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome OMIM:617022|ICD10:Q77.2|Orphanet:464366|UMLS:C4310760 owl:Class MONDO:0019691 biolink:NamedThing short rib dysplasia tmpaxzxjjyw_mondo_relaxed.owl SRP|ciliopathies with major skeletal involvement|short-rib dysplasia (with or without polydactyly) Orphanet:93426|ICD10:Q77.2|ICD9:756.3|SCTID:254050009 owl:Class MONDO:0018659 biolink:NamedThing partial duplication of the short arm of chromosome 19 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome 19p|partial trisomy of the short arm of chromosome 19|partial duplication of the short arm of chromosome type 19|partial duplication of chromosome 19p Orphanet:447985 owl:Class MONDO:0016937 biolink:NamedThing partial duplication of chromosome 19 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome 19|partial duplication of chromosome type 19 Orphanet:262687|SCTID:726358004 owl:Class MONDO:0009051 biolink:NamedThing cutaneous photosensitivity-lethal colitis syndrome Cutaneous photosensitivity and lethal colitisis is a rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991. tmpaxzxjjyw_mondo_relaxed.owl early cutaneous photosensitivity and severe colitis|cutaneous photosensitivity and colitis, lethal Orphanet:2881|UMLS:C1857449|ICD10:L57.8|OMIM:219095|MESH:C536224|GARD:0001633 owl:Class MONDO:0007639 biolink:NamedThing fundus albipunctatus Fundus albipunctatus is a rare, genetic retinal dystrophy characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age. tmpaxzxjjyw_mondo_relaxed.owl pigmentary retinal dystrophy|fundus albipunctatus|retinitis punctata albescens ICD10:H35.52|Orphanet:227796|ICD10:H35.5|DOID:11105|SCTID:68222009|ICD9:362.74|OMIM:136880|ICD9:362.76|MESH:C562733|Orphanet:52427 owl:Class MONDO:0100443 biolink:NamedThing RDH5-related retinopathy A retinopathy caused by bialleleic variants in the RDH5 gene, often involving flecks in the retina. tmpaxzxjjyw_mondo_relaxed.owl pigmentary retinal dystrophy|RDH5 retinopathy|fundus albipunctatus|retinitis punctata albescens owl:Class MONDO:0017258 biolink:NamedThing idiopathic panuveitis Idiopathic panuveitis is a rare inflammatory eye disease, of unknown etiology, characterized by generalized inflammation of the uvea (iris, ciliary body, choroid), retina and vitreous with consequent ciliary spasm and posterior synechiae formation, leading to acute or chronic, unilateral or bilateral visual impairment and ocular discomfort or pain. Patients present an increased risk of development of cataracts, secondary glaucoma, cystoid macular edema and/or retinal detachment. It could potentially result in vision loss. tmpaxzxjjyw_mondo_relaxed.owl ICD10:H44.1|SCTID:766933000|Orphanet:280921 owl:Class MONDO:0017255 biolink:NamedThing panuveitis A disorder characterized by inflammation of the entire uvea which includes the iris, ciliary body, and choroid. Causes include systemic infections, sarcoidosis, and cancers. tmpaxzxjjyw_mondo_relaxed.owl total uveitis|panuveitis (disease)|panuveitis|diffuse uveitis panuveitis (disease) MESH:D015864|ICD9:360.12|ICD10:H44.1|Orphanet:280898|NCIT:C84989|SCTID:75614007|DOID:12030|EFO:1001082|GARD:0008577|ICD10:H44.11|HP:0012121|MedDRA:10033687 MONDO:0006885 owl:Class GO:0042749 biolink:NamedThing regulation of circadian sleep/wake cycle Any process that modulates the frequency, rate or extent of the circadian sleep/wake cycle. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002621 biolink:NamedThing gingival epithelial cell tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-14T12:46:28Z cell owl:Class MONDO:0020049 biolink:NamedThing autosomal anomaly A chromosomal anomaly that involves an autosome. tmpaxzxjjyw_mondo_relaxed.owl autosome chromosomal anomaly|chromosomal anomaly of autosome Orphanet:98127|UMLS:CN227743 owl:Class MONDO:8000017 biolink:NamedThing testicular regression syndrome A developmental anomaly characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS may vary from normal male with unilateral no-palpable testis through phenotypic male with micropenis, to phenotypic female. The phenotype depends on the extent and timing of the intrauterine accident in relation to sexual development. tmpaxzxjjyw_mondo_relaxed.owl ETRS|vanishing testis syndrome|embryonic testicular regression syndrome|TRS|vanishing testes syndrome Orphanet:983|ICD10:Q55.0|UMLS:C0266427|ICD9:752.89|MedDRA:10002641|SCTID:53599007 owl:Class MONDO:0017966 biolink:NamedThing 46,XY disorder of gonadal development tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227229|Orphanet:325118 owl:Class MONDO:0001517 biolink:NamedThing dysentery Acute inflammation of the intestine associated with infectious diarrhea of various etiologies, generally acquired by eating contaminated food containing toxins, biological derived from bacteria or other microorganisms. Dysentery is characterized initially by watery feces then by bloody mucoid stools. It is often associated with abdominal pain; fever; and dehydration. tmpaxzxjjyw_mondo_relaxed.owl diarrheal disease, infectious|infectious diarrheal diseases|infectious diarrheal disease|dysenteric diarrhea|infective diarrhea|infectious diarrhea SCTID:19213003|MESH:D004403|ICD9:009.2|EFO:1001869|SCTID:111939009|DOID:12384|UMLS:C0013369 https://github.com/monarch-initiative/mondo/issues/3703 owl:Class MONDO:0018472 biolink:NamedThing familial isolated trichomegaly Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. tmpaxzxjjyw_mondo_relaxed.owl OMIM:190330|SCTID:764523004|Orphanet:411788|DOID:0111566 owl:Class MONDO:0008593 biolink:NamedThing trichomegaly tmpaxzxjjyw_mondo_relaxed.owl TCMGLY|eyelashes, long|trichomegaly OMIM:190330|Orphanet:411788 owl:Class MONDO:0000171 biolink:NamedThing muscular dystrophy-dystroglycanopathy, type A tmpaxzxjjyw_mondo_relaxed.owl Walker-Warburg syndrome|Pagon syndrome|Chemke syndrome|hydrocephalus-agyria-retinal dysplasia syndrome|Walker-Warburg muscular dystrophy|hydrocephalus, agyria and retinal dysplasia|cerebroocular dysplasia-muscular dystrophy syndrome|hard syndrome|WWS|Warburg syndrome|cerebroocular dysgenesis|cerebroocular dysplasia muscular dystrophy syndrome|hard +/- E syndrome OMIM:614830|OMIM:253800|OMIM:614643|DOID:0050560|OMIM:236670|OMIM:615041|Orphanet:899|ICD10:Q04.3|SCTID:111504002|OMIMPS:236670|OMIM:613153|OMIM:615249|OMIM:615287|OMIM:613150|MESH:D058494|OMIM:253280|NCIT:C99109|GARD:0002599|OMIM:616538|UMLS:CN239483|OMIM:615181|OMIM:613154 owl:Class MONDO:0700068 biolink:NamedThing myopathy caused by variation in POMGNT1 Any myopathy in which the cause of the disease is a variation in the POMGNT1 gene. tmpaxzxjjyw_mondo_relaxed.owl POMGNT1 myopathy|myopathy caused by mutation in POMGNT1|POMGNT1-related myopathy http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0000384 biolink:NamedThing bladder benign neoplasm A benign abnormal growth of the cells that comprise the bladder. tmpaxzxjjyw_mondo_relaxed.owl benign urinary bladder tumor|benign neoplasm of the urinary bladder|benign neoplasm of bladder|benign tumor of bladder|benign neoplasm of urinary bladder|benign tumor of urinary bladder|urinary bladder benign neoplasm|benign urinary bladder neoplasm|benign tumor of the bladder|benign bladder neoplasm|benign neoplasm of the bladder|benign bladder tumor|benign tumor of the urinary bladder DOID:0050623|UMLS:C0154017|ICD9:223.3|SCTID:91992005|NCIT:C3618 owl:Class MONDO:0004987 biolink:NamedThing urinary bladder neoplasm A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003 tmpaxzxjjyw_mondo_relaxed.owl urinary bladder neoplasms|bladder neoplasm|neoplasm of urinary bladder|urinary bladder neoplasm|urinary bladder neoplasm (disease)|neoplasm of the bladder|neoplasm of the urinary bladder|bladder tumors|tumor of bladder|tumor of the bladder|bladder tumor|tumor of the urinary bladder|neoplasm of bladder|urinary bladder tumor|urinary bladder tumors|tumor of urinary bladder ICD9:239.4|UMLS:C0005695|SCTID:126885006|EFO:0000294|NCIT:C2901 owl:Class MONDO:0002401 biolink:NamedThing malignant tenosynovial giant cell tumor An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well. tmpaxzxjjyw_mondo_relaxed.owl malignant tenosynovial giant cell tumor|tenosynovial giant cell tumor, malignant|malignant giant cell tumor of tendon sheath|giant cell tumour of tendon sheath, malignant|malignant giant cell neoplasm of the tendon sheath|malignant giant cell tumor of the tendon sheath|malignant tendon sheath giant cell tumor|malignant giant cell neoplasm of tendon sheath|malignant tendon sheath giant cell neoplasm UMLS:C1266168|NCIT:C6535|ICDO:9252/3|DOID:2704 owl:Class MONDO:0002402 biolink:NamedThing malignant giant cell tumor A malignant neoplasm characterized by then presence of atypical giant cells. tmpaxzxjjyw_mondo_relaxed.owl giant cell tumor, malignant|malignant giant cell neoplasm|malignant tumor, giant cell type (morphologic abnormality)|malignant tumor, giant cell type|malignant giant cell tumor ICDO:8003/3|DOID:2705|NCIT:C4090|UMLS:C0334229 owl:Class HGNC:7096 biolink:NamedThing MID2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006402 biolink:NamedThing salivary gland basal cell adenocarcinoma A rare adenocarcinoma of the major and minor salivary glands, originating from basaloid, myoepithelial and ductal cells. While morphologically resembling basal cell carcinomas, it is a distinct entity. The tumor is not encapsulated, may invade locally, and less frequently may metastasize. It usually occurs in older patients. tmpaxzxjjyw_mondo_relaxed.owl basal cell adenocarcinoma of the salivary gland|saliva-secreting gland skin basal cell carcinoma|basal cell adenocarcinoma of salivary gland|skin basal cell carcinoma of saliva-secreting gland|basal cell adenocarcinoma|salivary gland basal cell adenocarcinoma ICDO:8147/3|EFO:1000515|NCIT:C3678 owl:Class MONDO:0004290 biolink:NamedThing subglottis verrucous carcinoma An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the subglottic area of the larynx. tmpaxzxjjyw_mondo_relaxed.owl verrucous carcinoma of the subglottis|subglottic verrucous carcinoma|verrucous carcinoma of subglottis|subglottis verrucous carcinoma DOID:7584|UMLS:C0280330|NCIT:C8190 owl:Class MONDO:0004291 biolink:NamedThing subglottis squamous cell carcinoma A squamous cell carcinoma of the larynx that arises from the subglottic area. Symptoms include dyspnea and stridor. It spreads to the hypopharynx, trachea, and thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of subglottis|epidermoid carcinoma of subglottis|subglottic squamous cell carcinoma|epidermoid carcinoma of the subglottis|subglottis epidermoid carcinoma|squamous cell carcinoma of the subglottis|subglottis squamous cell carcinoma|subglottic epidermoid carcinoma UMLS:C0280326|DOID:7585|NCIT:C8187 owl:Class MONDO:0016345 biolink:NamedThing non-familial restrictive cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226908|Orphanet:217720|EFO:1001473 owl:Class MONDO:0005201 biolink:NamedThing restrictive cardiomyopathy A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, constrictive|familial restrictive cardiomyopathy|primary restrictive cardiomyopathy|restrictive cardiomyopathy NCIT:C62798|UMLS:C0007196|OMIM:612422|ICD9:425.4|MESH:D002313|EFO:0002630|DOID:397|OMIM:615248|ICD10:I42.5|MedDRA:10038748|OMIM:115210|OMIM:609578|Orphanet:217632|SCTID:415295002|Orphanet:75249 owl:Class UBERON:0010693 biolink:NamedThing pedal digit 1 epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005226 biolink:NamedThing pedal digit epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0045056 biolink:NamedThing grade II meningioma An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma. tmpaxzxjjyw_mondo_relaxed.owl WHO grade II meningioma|grade II meningioma|grade 2 meningioma UMLS:C1512259|NCIT:C38937 owl:Class MONDO:0017829 biolink:NamedThing autosomal dominant proximal renal tubular acidosis Autosomal dominant proximal renal tubular acidosis (AD pRTA) is a form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequently causing urinary bicarbonate wastage. Mild growth retardation and reduced bone density are extra-renal complications. tmpaxzxjjyw_mondo_relaxed.owl AD pRTA|proximal renal tubular acidosis, autosomal dominant Orphanet:314889|UMLS:CN203801|ICD10:N25.8 owl:Class UBERON:0035237 biolink:NamedThing branch of internal carotid artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005396 biolink:NamedThing carotid artery segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010716 biolink:NamedThing X-linked lethal multiple pterygium syndrome X-linked form of lethal multiple pterygium syndrome. tmpaxzxjjyw_mondo_relaxed.owl lethal multiple pterygium syndrome, X-linked|multiple pterygium syndrome, X-linked|pterygium syndrome, multiple, X-linked|pterygium syndrome multiple X-linked|multiple pterygium syndrome X-linked SCTID:763462004|OMIM:312150|MESH:C564072|UMLS:C1839440|ICD10:Q79.8|GARD:0004573|Orphanet:79447 https://rarediseases.info.nih.gov/diseases/4573/multiple-pterygium-syndrome-x-linked owl:Class MONDO:0009668 biolink:NamedThing lethal multiple pterygium syndrome Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition. tmpaxzxjjyw_mondo_relaxed.owl multiple pterygium syndrome lethal type|LMPS|pterygium syndrome multiple lethal type|pterygium syndrome, multiple, lethal type|multiple pterygium syndrome, lethal type|autosomal recessive lethal multiple pterygium syndrome|lethal multiple pterygium syndrome GARD:0003834|SCTID:60192008|OMIM:253290|ICD10:Q79.8|Orphanet:33108|ICD9:759.89|UMLS:C1854678|NCIT:C101038 https://rarediseases.info.nih.gov/diseases/3834/multiple-pterygium-syndrome-lethal-type owl:Class GO:0062149 biolink:NamedThing detection of stimulus involved in sensory perception of pain The series of events involved in the perception of pain in which a stimulus is received and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017647 biolink:NamedThing postinfectious autoimmune disease with chorea tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:306727|UMLS:CN203539 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: autoimmune disease' MONDO_0007179 owl:Class MONDO:0014402 biolink:NamedThing severe neurodegenerative syndrome with lipodystrophy tmpaxzxjjyw_mondo_relaxed.owl PELD|severe neurodegenerative syndrome due to BSCL2 deficiency|encephalopathy, progressive, with or without lipodystrophy UMLS:C4014700|Orphanet:363400|OMIM:615924|ICD10:G31.8 owl:Class GO:0002660 biolink:NamedThing positive regulation of peripheral tolerance induction Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. tmpaxzxjjyw_mondo_relaxed.owl up regulation of peripheral tolerance induction|activation of peripheral tolerance induction|stimulation of peripheral tolerance induction|upregulation of peripheral tolerance induction|up-regulation of peripheral tolerance induction owl:Class GO:0002654 biolink:NamedThing positive regulation of tolerance induction dependent upon immune response Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. tmpaxzxjjyw_mondo_relaxed.owl activation of tolerance induction dependent upon immune response|positive regulation of immune response-dependent tolerance induction|up-regulation of tolerance induction dependent upon immune response|up regulation of tolerance induction dependent upon immune response|upregulation of tolerance induction dependent upon immune response|stimulation of tolerance induction dependent upon immune response owl:Class MONDO:0019521 biolink:NamedThing centripetalis recessive dystrophic epidermolysis bullosa Centripetalis recessive dystrophic epidermolysis bullosa (RDEB-Ce) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB), characterized by blistering which begins acrally and then progressively spreads toward the trunk. tmpaxzxjjyw_mondo_relaxed.owl RDEB, centripetalis|centripetal recessive dystrophic epidermolysis bullosa|centripetal dystrophic epidermolysis bullosa|RDEB-Ce UMLS:C4511056|ICD10:Q81.2|SCTID:725419003|Orphanet:89841 owl:Class MONDO:0006543 biolink:NamedThing epidermolysis bullosa dystrophica A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. tmpaxzxjjyw_mondo_relaxed.owl DEB|epidermolysis bullosa dystrophica|epidermolysis bullosa, dermolytic|dermolytic epidermolysis bullosa SCTID:254185007|Wikipedia:Epidermolysis_bullosa_dystrophica|GARD:0002150|Orphanet:303|EFO:1000692|DOID:4959|ICD9:757.39|ICD10:Q81.2|MESH:D016108|NCIT:C84691 owl:Class GO:1901859 biolink:NamedThing negative regulation of mitochondrial DNA metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial DNA metabolic process. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of mtDNA metabolism|down regulation of mitochondrial DNA metabolism|downregulation of mtDNA metabolism|inhibition of mitochondrial DNA metabolic process|downregulation of mitochondrial DNA metabolic process|inhibition of mitochondrial DNA metabolism|down regulation of mtDNA metabolic process|down regulation of mitochondrial DNA metabolic process|downregulation of mitochondrial DNA metabolism|negative regulation of mitochondrial DNA metabolism|negative regulation of mtDNA metabolism|negative regulation of mtDNA metabolic process|down-regulation of mitochondrial DNA metabolic process|down regulation of mtDNA metabolism|down-regulation of mtDNA metabolic process|downregulation of mtDNA metabolic process|inhibition of mtDNA metabolic process|inhibition of mtDNA metabolism|down-regulation of mitochondrial DNA metabolism owl:Class HGNC:854 biolink:NamedThing ATP6V1B2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0110110 biolink:NamedThing positive regulation of animal organ morphogenesis Any process that activates or increases the frequency, rate or extent of animal organ morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000027 biolink:NamedThing regulation of animal organ morphogenesis Any process that modulates the frequency, rate or extent of animal organ morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl regulation of histogenesis and organogenesis owl:Class HGNC:9142 biolink:NamedThing PRRX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014639 biolink:NamedThing familial temporal lobe epilepsy 7 A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22. tmpaxzxjjyw_mondo_relaxed.owl familial temporal lobe epilepsy type 7|epilepsy, familial temporal lobe, type 7|epilepsy, familial temporal lobe, 7|ETL7 UMLS:C4225327|OMIM:616436|Orphanet:101046|DOID:0060751 owl:Class MONDO:0023235 biolink:NamedThing giant congenital nevus A rare melanocytic lesion occurring at birth, comprising at least 5% of the body surface area. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors. tmpaxzxjjyw_mondo_relaxed.owl giant pigmented Nevus of skin|giant congenital melanocytic nevus|giant congenital Nevus|GPHN|bathing trunk nevus|congenital giant pigmented nevus|congenital hairy nevus|giant pigmented Nevus of the skin|giant pigmented nevus|giant pigmented hairy nevus|giant hairy nevus|bathing trunk Nevus|large congenital melanocytic nevus GARD:0002469|NCIT:C4234|ICDO:8761/1|SCTID:254815002 https://rarediseases.info.nih.gov/diseases/2469/giant-congenital-nevus owl:Class MONDO:0023069 biolink:NamedThing enlarged vestibular aqueduct syndrome tmpaxzxjjyw_mondo_relaxed.owl enlarged vestibular aqueduct syndrome|large vestibular aqueduct syndrome|enlarged vestibular aqueduct DOID:0050332|GARD:0008651 https://rarediseases.info.nih.gov/diseases/8651/enlarged-vestibular-aqueduct-syndrome owl:Class MONDO:0010334 biolink:NamedThing severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). tmpaxzxjjyw_mondo_relaxed.owl DDCH|contiguous ABCD1/Dxs1375E deletion syndrome|deafness, dystonia, and cerebral hypomyelination ICD10:Q87.8|OMIM:300475|UMLS:CN204816|Orphanet:369939|MESH:C564508|Orphanet:369942 owl:Class MONDO:0012459 biolink:NamedThing hypertension, essential, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl hypertension, essential, kidney function-related|hypertension, essential, susceptibility to, 6|Hyt6|hypertension, essential, susceptibility to, type 6 OMIM:610262 owl:Class MONDO:0014489 biolink:NamedThing limb-girdle muscular dystrophy due to POMK deficiency Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence. tmpaxzxjjyw_mondo_relaxed.owl LGMD due to POMK deficiency|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12|muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related|MDDGC12 Orphanet:445110|UMLS:C4015184|OMIM:616094|ICD10:G71.0 owl:Class GO:0006469 biolink:NamedThing negative regulation of protein kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of protein kinase activity|inhibition of protein kinase activity|downregulation of protein kinase activity|down regulation of protein kinase activity owl:Class GO:0045859 biolink:NamedThing regulation of protein kinase activity Any process that modulates the frequency, rate or extent of protein kinase activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014609 biolink:NamedThing cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia|CHOPS syndrome|CHOPS EFO:0009031|UMLS:C4085597|Orphanet:444077|SCTID:764455002|GARD:0012845|ICD10:Q87.8|OMIM:616368 owl:Class NCBITaxon:7711 biolink:NamedThing Chordata tmpaxzxjjyw_mondo_relaxed.owl chordates GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:33511 biolink:NamedThing Deuterostomia tmpaxzxjjyw_mondo_relaxed.owl deuterostomes GC_ID:1 ncbi_taxonomy owl:Class CHEBI:16042 biolink:NamedThing halide anion A monoatomic monoanion resulting from the addition of an electron to any halogen atom. tmpaxzxjjyw_mondo_relaxed.owl a halide anion|Halide|HX|halogen anion|halide ions|halide anions|halide(1-)|halides owl:Class CHEBI:33429 biolink:NamedThing monoatomic monoanion tmpaxzxjjyw_mondo_relaxed.owl monoatomic monoanions owl:Class MONDO:0014153 biolink:NamedThing cone-rod dystrophy 18 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene. tmpaxzxjjyw_mondo_relaxed.owl CORD18|cone-rod dystrophy caused by mutation in RAB28|cone-rod dystrophy type 18|RAB28 cone-rod dystrophy|cone-rod dystrophy 18 DOID:0111024|OMIM:615374|Orphanet:1872|UMLS:C3809299 owl:Class MONDO:0024656 biolink:NamedThing colorectal lymphoma An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of large intestine|colorectal lymphoma|large intestinal lymphoma|large intestine lymphoma|primary colorectal lymphoma UMLS:C3272822|NCIT:C96498 owl:Class GO:0048863 biolink:NamedThing stem cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004373 biolink:NamedThing adult papillary meningioma A papillary meningioma occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl papillary meningioma|papillary meningioma of adults|adult papillary meningioma UMLS:C0281334|NCIT:C8293|DOID:7826 owl:Class MONDO:0003262 biolink:NamedThing rhabdoid meningioma A WHO grade III meningioma characterized by the predominant presence of rhabdoid cells forming sheets. tmpaxzxjjyw_mondo_relaxed.owl papillary meningioma|papillary meningioma (morphologic abnormality)|rhabdoid meningioma|meningioma, rhabdoid|meningioma, rhabdoid (morphologic abnormality) NCIT:C6909|ONCOTREE:RHM|DOID:5058|UMLS:C0259786 owl:Class MONDO:0019438 biolink:NamedThing AL amyloidosis AL Amyloidosis is a plasma cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains usually produced by a plasma cell tumor. It usually presents as primary systemic amyloidosis (PSA) with multiple organ involvement and less frequently as primary localized amyloidosis (PLA) restricted to a single organ. tmpaxzxjjyw_mondo_relaxed.owl primary systemic AL amyloidosis|primary AL amyloidosis|primary systemic amyloidosis|systemic AL amyloidsis|Light-chain amyloidosis|primary amyloidosis|Light chain amyloidosis|primary amyloidosis (formerly)|amyloidosis AL|amyloidosis primary systemic Orphanet:85443|UMLS:C0268381|OMIM:254500|ICD10:E85.9|MESH:C531616|MedDRA:10036673|GARD:0005797 owl:Class MONDO:0001173 biolink:NamedThing acute salpingitis Acute inflammation of the fallopian tube. It is most often caused by Neisseria gonorrhoeae and Chlamydia trachomatis infections. The infections usually originate in the vagina and ascend to the fallopian tube. Symptoms include abdominal, pelvic, and lower back pain, pain during ovulation and sexual intercourse, fever, nausea, and vomiting. Complications include infertility and ectopic pregnancy. tmpaxzxjjyw_mondo_relaxed.owl salpingitis, acute UMLS:C0269038|NCIT:C40120|DOID:10973|SCTID:8912009|ICD10:N70.01 owl:Class MONDO:0006919 biolink:NamedThing potassium deficiency A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing polyuria and decreased maximal urinary concentrating ability with secondary polydipsia. (Merck Manual, 16th ed) tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10036445|MESH:D011191|EFO:1001120 owl:Class CL:0002672 biolink:NamedThing retinal progenitor cell A multi-fate stem cell that can give rise to different retinal cell types including rod and cone cells. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-08-16T02:38:01Z cell owl:Class CL:0000048 biolink:NamedThing multi fate stem cell A stem cell that can give rise to multiple lineages of cells. tmpaxzxjjyw_mondo_relaxed.owl multipotent cell|multi-fate stem cell|multipotent stem cell|multifate stem cell FMA:84789 cell owl:Class MONDO:0013228 biolink:NamedThing spondylo-megaepiphyseal-metaphyseal dysplasia tmpaxzxjjyw_mondo_relaxed.owl spondylo-megaepiphyseal-metaphyseal dysplasia|SMMD ICD10:Q77.7|UMLS:C2750066|Orphanet:228387|OMIM:613330|MESH:C567639 owl:Class MONDO:0001680 biolink:NamedThing vaginal mullerian papilloma A benign papilloma that arises from the vagina in infants and young women. tmpaxzxjjyw_mondo_relaxed.owl vaginal Müllerian papilloma|vaginal Mullerian papilloma|vaginal Muellerian papilloma NCIT:C40255|UMLS:C1519926|DOID:133 owl:Class MONDO:0000647 biolink:NamedThing benign vaginal neoplasm A non-metastasizing neoplasm that arises from the vagina. Representative examples include squamous papilloma and melanocytic nevus. tmpaxzxjjyw_mondo_relaxed.owl benign vaginal neoplasms|benign tumor of the vagina|vagina benign neoplasm|benign neoplasm of the vagina|vagina female reproductive organ benign neoplasm|benign vaginal tumor|vaginal benign neoplasm|benign neoplasm of vagina|benign tumor of vagina|benign vaginal neoplasm SCTID:92473001|UMLS:C0154002|ICD9:221.1|NCIT:C3610|DOID:0060114 owl:Class HGNC:14673 biolink:NamedThing FYCO1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020301 biolink:NamedThing Prader-Willi syndrome due to paternal 15q11q13 deletion tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98793|UMLS:CN207115|ICD10:Q87.1 owl:Class MONDO:0008300 biolink:NamedThing Prader-Willi syndrome Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems. tmpaxzxjjyw_mondo_relaxed.owl Prader-Willi syndrome chromosome region|Willi-Prader syndrome|Prader Willi syndrome|obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet|obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet|PWS|Prader-Willi-like syndrome associated with chromosome 6|Prader-Labhart-Willi syndrome|Prader-Willi-Labhart syndrome|Prader-Willi syndrome UMLS:C0032897|GARD:0005575|ICD10:Q87.1|Orphanet:739|MESH:D011218|DOID:11983|NCIT:C75463|ICD9:759.81|OMIM:176270|SCTID:89392001|OMIM:615547|MedDRA:10036476 https://rarediseases.info.nih.gov/diseases/5575/prader-willi-syndrome owl:Class HGNC:7584 biolink:NamedThing MYL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005699 biolink:NamedThing cervicofacial actinomycosis A form of actinomycosis characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses. tmpaxzxjjyw_mondo_relaxed.owl lumpy jaw|cervicofacial actinomycotic infection ICD9:039.3|ICD10:A42.2|EFO:0007203|MESH:D000197|UMLS:C0001264|NCIT:C34351|SCTID:23014006 owl:Class MONDO:0005631 biolink:NamedThing actinomycosis Actinomycosis is a chronic bacterial infection that commonly affects the face and neck. It is usually caused by an anaerobic bacteria called Actinomyces israelii. Actinomyces are normal inhabitants of the mouth, gastrointestinal tract, and female genital tract, and do not cause an infection unless there is a break in the skin or mucosa. The infection usually occurs in the face and neck, but can sometimes occur in the chest, abdomen, pelvis, or other areas of the body. The infection is not contagious. tmpaxzxjjyw_mondo_relaxed.owl anaerobic Actinomyces infection|actinomycotic madura foot|Actinomyces infection|canaliculitis|Madura foot due to Actinomadura|Actinomycetes|Actinomyces israeli|boil|actinomycotic mycetoma of foot|infections, Actinomyces|actinomycetoma|actinomycotic mycetema|Keratoactinomycosis ICD9:039|SCTID:11817007|ICD10:A42.0|MESH:D000196|NCIT:C34350|ICD10:A42.1|ICD10:A42.7|ICD10:A42|Orphanet:457095|DOID:8478|ICD9:039.9|ICD10:A42.8|UMLS:C0001261|ICD10:A42.9|ICD10:A42.2|EFO:0007128|GARD:0005728 https://rarediseases.info.nih.gov/diseases/5728/actinomycosis owl:Class MONDO:0010088 biolink:NamedThing mucosulfatidosis Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus. tmpaxzxjjyw_mondo_relaxed.owl juvenile sulfatidosis|juvenile sulfatidosis, Austin type|sulfatidosis, juvenile, Austin type|sulfatidosis juvenile, Austin type|mucosulfatidosis|MSD|multiple sulfatase deficiency disease|multiple sulfatase deficiency Orphanet:585|GARD:0005061|MESH:D052517|DOID:0050441|NCIT:C84908|OMIM:272200|UMLS:C0268263|SCTID:54898003|ICD10:E75.2 owl:Class MONDO:0019255 biolink:NamedThing sphingolipidosis An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. tmpaxzxjjyw_mondo_relaxed.owl sphingolipidoses DOID:1927|UMLS:C0037899|ICD10:E75.3|ICD10:E75.1|SCTID:58459009|GARD:0007672|ICD10:E75.2|NCIT:C117254|SCTID:238028008|MESH:D013106|ICD10:E75.0|Orphanet:79225 https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis owl:Class UBERON:0007304 biolink:NamedThing appendage vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010402 biolink:NamedThing epidermis suprabasal layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0003352 biolink:NamedThing regulation of cilium movement Any process that modulates the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. tmpaxzxjjyw_mondo_relaxed.owl regulation of microtubule-based flagellum movement|regulation of flagellar movement|regulation of flagellum movement owl:Class MONDO:0022633 biolink:NamedThing camptodactyly joint contractures and facial skeletal dysplasia tmpaxzxjjyw_mondo_relaxed.owl MESH:C537969 owl:Class MONDO:0008690 biolink:NamedThing xeroderma pigmentosum, autosomal dominant, mild tmpaxzxjjyw_mondo_relaxed.owl xeroderma pigmentosum, autosomal dominant, mild OMIM:194400|UMLS:C1860231|MESH:C565989|Orphanet:910 owl:Class MONDO:0002514 biolink:NamedThing hepatobiliary neoplasm A benign or malignant neoplasm that affects the liver parenchyma, bile ducts, and gallbladder. Representative examples of benign neoplasms include hepatocellular adenoma, bile duct adenoma, and gallbladder lipoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic and extrahepatic cholangiocarcinoma, and gallbladder carcinoma. tmpaxzxjjyw_mondo_relaxed.owl hepatobiliary neoplasm|hepatic and biliary tumors|liver and biliary neoplasm|hepatic, biliary, and gallbladder neoplasms|hepatic and biliary neoplasms|hepato-biliary tumor|neoplasm of hepatobiliary system|tumor of hepatobiliary system|hepato-biliary neoplasm|hepatobiliary system tumor|hepatobiliary benign neoplasm|hepatobiliary system neoplasm|hepatobiliary system neoplasm (disease)|liver and biliary system neoplasm|hepatobiliary tumor|hepatobiliary tumors EFO:0008550|NCIT:C8614|UMLS:C0854196|DOID:3117 owl:Class MONDO:0017124 biolink:NamedThing noma Noma is a gangrenous disease that causes severe destruction of the soft and osseous tissues of the face. tmpaxzxjjyw_mondo_relaxed.owl oro-facial gangrene|oral gangrene|gangrenous stomatitis|noma neonatorum|oro-facial noma|cancrum oris EFO:1001063|UMLS:C0028271|MedDRA:10029502|GARD:0004001|ICD10:A69.0|SCTID:18116006|Orphanet:2700|DOID:9672|MESH:D009625|NCIT:C34852|ICD9:528.1 https://rarediseases.info.nih.gov/diseases/4001/noma owl:Class MONDO:0002603 biolink:NamedThing angiomyolipoma A neoplasm with perivascular epithelioid cell differentiation often associated with tuberous sclerosis. It is characterized by a mixture of epithelioid cells, smooth muscle, vessels, and mature adipose tissue. The kidney is the most common site of involvement. Other sites of involvement include the liver, lung, lymph nodes, and retroperitoneum. The vast majority of cases follow a benign clinical course. However, cases of metastatic angiomyolipomas with sarcomatoid features have been described. tmpaxzxjjyw_mondo_relaxed.owl angiomyolipoma (morphologic abnormality) ICDO:8860/0|MESH:D018207|DOID:3314|NCIT:C3734|UMLS:C0206633|GARD:0012024 owl:Class MONDO:0009926 biolink:NamedThing autosomal recessive multiple pterygium syndrome A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl multiple pterygium syndrome, Nonlethal type|pterygium syndrome|multiple pterygium syndrome Escobar type|pterygium Universale|Escobar variant multiple pterygium syndrome|multiple pterygium syndrome, ESCOBAR variant|pterygium universale|autosomal recessive non-lethal multiple pterygium syndrome|multiple pterygium syndrome|EVMPS|multiple pterygium syndrome nonlethal type|multiple pterygium syndrome, autosomal recessive|autosomal recessive multiple pterygium syndrome|pterygium colli syndrome|Escobar syndrome ICD10:Q79.8|NCIT:C101039|ICD9:759.89|SCTID:80773006|GARD:0007111|Orphanet:2990|OMIM:265000|UMLS:CN203342 https://rarediseases.info.nih.gov/diseases/7111/multiple-pterygium-syndrome-escobar-type owl:Class MONDO:0017415 biolink:NamedThing multiple pterygium syndrome tmpaxzxjjyw_mondo_relaxed.owl pterygium syndrome DOID:0080110|Orphanet:294060|OMIM:178110|OMIM:253290|ICD9:755.8|ICD10:Q79.8|MESH:C537377|OMIM:265000|OMIM:312150|SCTID:205819008 owl:Class HGNC:4421 biolink:NamedThing GNRHR tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071478 biolink:NamedThing cellular response to radiation Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation. tmpaxzxjjyw_mondo_relaxed.owl cellular response to radiation stimulus|cellular response to electromagnetic radiation stimulus owl:Class GO:0071214 biolink:NamedThing cellular response to abiotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus. tmpaxzxjjyw_mondo_relaxed.owl cellular response to abiotic stress owl:Class UBERON:0003396 biolink:NamedThing mesentery of colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013489 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 89 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive deafness 89|autosomal recessive nonsyndromic deafness type 89|DFNB89|deafness, autosomal recessive 89|autosomal recessive nonsyndromic deafness 89|autosomal recessive nonsyndromic deafness caused by mutation in KARS|deafness, autosomal recessive type 89|KARS autosomal recessive nonsyndromic deafness DOID:0110534|UMLS:C3151351|OMIM:613916|Orphanet:90636|ICD10:H90.3 owl:Class UBERON:0004696 biolink:NamedThing venous system smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004237 biolink:NamedThing blood vessel smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014615 biolink:NamedThing accessory nerve root tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011136 biolink:NamedThing Quebec platelet disorder Quebec platelet syndrome (QPS) is a platelet granule disorder characterized by moderate to severe bleeding after trauma, surgery or obstetric interventions, frequent ecchymoses, mucocutaneous bleeding and muscle and joint bleeds. tmpaxzxjjyw_mondo_relaxed.owl platelet-type bleeding disorder 5|factor 5 Quebec|BDPLT5|Quebec platelet disorder|factor V Quebec|bleeding disorder, platelet-type, 5|QPD OMIM:601709|ICD10:D69.1|GARD:0008345|UMLS:C1866423|MESH:C536260|DOID:0111050|Orphanet:220436 https://rarediseases.info.nih.gov/diseases/8345/quebec-platelet-disorder owl:Class MONDO:0020117 biolink:NamedThing alpha granule disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98455|ICD10:D69.1|UMLS:CN207009 owl:Class MONDO:0007002 biolink:NamedThing trochlear nerve disorder A disease involving the trochlear nerve. tmpaxzxjjyw_mondo_relaxed.owl trochlear nerve disease or disorder|disorder of trochlear nerve|disease or disorder of trochlear nerve|superior oblique muscle innervation disorder|trochlear nerve disease|trochlear nerve disorder|IVth nerve disorder|IVth cranial nerve disorder|disease of trochlear nerve EFO:1001220|ICD9:378.53|ICD10:H49.1|MESH:D020432|NCIT:C78395|DOID:13864|MedDRA:10074765 owl:Class ENVO:01001836 biolink:NamedThing montane biome A biome which is subject to montane altitudinal conditions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002254 biolink:NamedThing epithelial cell of small intestine An epithelial cell of the small intestine. tmpaxzxjjyw_mondo_relaxed.owl FMA:256159 tmeehan 2010-09-08T09:41:46Z CL:1000293 cell owl:Class CL:0002563 biolink:NamedThing intestinal epithelial cell An epithelial cell of the intestine. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-01T05:18:31Z cell owl:Class MONDO:0015951 biolink:NamedThing hereditary photodermatosis Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. tmpaxzxjjyw_mondo_relaxed.owl genetic skin photosensitivity|photogenodermatosis|genetic photosensitivity|photogénodermatose Orphanet:183490 owl:Class MONDO:0009279 biolink:NamedThing triple-A syndrome Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration. tmpaxzxjjyw_mondo_relaxed.owl glucocorticoid deficiency and achalasia|AAA|AAAS|achalasia-addisonianism-alacrimia syndrome|alacrima-achalasia-addisonianism|hypoadrenalism with achalasia|3A syndrome|AAA syndrome|achalasia-addisonianism-alacrima syndrome|achalasia-alacrima syndrome|alacrima-achalasia-adrenal insufficiency neurologic disorder|achalasia alacrima syndrome|Allgrove syndrome|adrenal insufficiency-achalasia-alacrima syndrome|achalasia addisonianism alacrimia syndrome|4A syndrome|Double A syndrome|2A syndrome|ACTH-resistant adrenal insufficiency, achalasia and alacrima|triple A syndrome|Addisonian achalasia syndrome|quaternary A syndrome|Addisonian-achalasia syndrome|triple-a syndrome ICD9:255.41|NCIT:C131005|SCTID:45414006|Orphanet:869|ICD10:E27.4|EFO:1001997|DOID:0050602|OMIM:231550|MESH:C536008|OMIM:615510|GARD:0000457 https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome owl:Class GO:0050728 biolink:NamedThing negative regulation of inflammatory response Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl inhibition of inflammatory response|down-regulation of inflammatory response|anti-inflammatory response|down regulation of inflammatory response|downregulation of inflammatory response owl:Class HGNC:13890 biolink:NamedThing ITCH tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060375 biolink:NamedThing regulation of mast cell differentiation Any process that modulates the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010519 biolink:NamedThing alpha thalassemia-X-linked intellectual disability syndrome X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. tmpaxzxjjyw_mondo_relaxed.owl alpha-thalassemia/mental retardation syndrome nondeletion type|alpha-thalassemia/intellectual disability syndrome nondeletion type|XLMR hypotonic face syndrome|Alpha-thalassemia/intellectual disability syndrome, Nondeletion type|Alpha-thalassemia x-linked intellectual disability syndrome|ATRX|Alpha thalassemia X-linked intellectual disability syndrome|Alpha thalassemia intellectual disability syndrome, nondeletion type, X-linked|ATR-X syndrome|Alpha thalassemia/intellectual disability syndrome X-linked|ALPHA-thalassemia/intellectual disability syndrome, X-linked|ATR, Nondeletion type|ALPHA-thalassemia/mental retardation syndrome, X-linked|alpha thalassemia-X-linked intellectual disability syndrome|ATRX syndrome|Alpha thalassemia/mental retardation syndrome X-linked|Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked|Alpha-thalassemia-X-linked intellectual disability syndrome|Alpha thalassemia X-linked mental retardation syndrome|Alpha-thalassemia/mental retardation syndrome, Nondeletion type|ATR, nondeletion type DOID:0110030|MESH:C538258|GARD:0005864|Orphanet:847|UMLS:C1845055|OMIM:301040|ICD10:D56.0|NCIT:C118631|SCTID:715342005 Editor note: in DO this is indirectly classified as AR, which is wrong. Here we separate AT from AT-like diseases. https://rarediseases.info.nih.gov/diseases/5864/alpha-thalassemia-x-linked-intellectual-disability-syndrome owl:Class MONDO:0016513 biolink:NamedThing alpha-thalassemia-related diseases This term refers to a group of diseases characterized by alpha-thalassemia and an associated disorder. Three conditions are included in this group: alpha thalassemia - X-linked intellectual deficit (or ATR-X syndrome), alpha-thalassemia-intellectual deficit syndrome (or ATR-16 syndrome) and alpha-thalassemia-myelodysplastic disease (or ATMDS).* tmpaxzxjjyw_mondo_relaxed.owl ICD10:D56.0|Orphanet:232288|UMLS:CN201534 owl:Class MONDO:0011259 biolink:NamedThing retinitis pigmentosa 22 A retinitis pigmentosa that has material basis in variation in the chromosome region 16p12.3-p12.1. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 22|RP22|retinitis pigmentosa 22|RP 22 GARD:0010393|OMIM:602594|DOID:0110400|UMLS:C3887981|ICD10:H35.5|Orphanet:791 https://rarediseases.info.nih.gov/diseases/10393/retinitis-pigmentosa-22 owl:Class MONDO:0002710 biolink:NamedThing infiltrating angiolipoma An uncommon lipoma characterized by prominent vascularity that invades the surrounding deep tissue. tmpaxzxjjyw_mondo_relaxed.owl angiolipoma, infiltrating (morphologic abnormality)|infiltrating angiolipoma|angiolipoma, infiltrating NCIT:C7449|DOID:3615|UMLS:C1305256 owl:Class MONDO:0006085 biolink:NamedThing angiolipoma A lipoma with prominent vascularity. The vascular tissue is more abundant at the periphery of the tumor and contains fibrin thrombi. It occurs more frequently in younger individuals as a painful subcutaneous nodule, often on the arms. tmpaxzxjjyw_mondo_relaxed.owl angiolipoma, benign MESH:D018206|DOID:3616|SCTID:404057003|EFO:1000085|NCIT:C3733|UMLS:C0206632|ICDO:8861/0 owl:Class MONDO:0042433 biolink:NamedThing mycotic endocarditis An endocarditis (disease) caused by infection with Fungi. tmpaxzxjjyw_mondo_relaxed.owl fungal endocarditis|mycotic endocarditis|Fungi endocarditis (disease)|Fungi caused endocarditis (disease) UMLS:C0276648|SCTID:86348002 owl:Class MONDO:0001512 biolink:NamedThing intermittent proptosis tmpaxzxjjyw_mondo_relaxed.owl intermittent exophthalmos UMLS:C0155270|ICD10:H05.25|DOID:12363|SCTID:49774006|ICD9:376.34 owl:Class MONDO:0004751 biolink:NamedThing disease of orbital part of eye adnexa Diseases of the bony orbit and contents except the eyeball. tmpaxzxjjyw_mondo_relaxed.owl orbital disease ICD10:H05|ICD9:376.9|ICD10:H05.9|DOID:930|UMLS:C0029182|ICD9:376|MESH:D009916 Editor note: check this. MESH and DOID excludes eyeball which would make equivalent to adnexa owl:Class MONDO:0008434 biolink:NamedThing Smith-Magenis syndrome Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay. tmpaxzxjjyw_mondo_relaxed.owl Smith-Magenis chromosome region|chromosome 17p11.2 deletion syndrome|chromosome 17P11.2 deletion syndrome|17p11.2 microdeletion syndrome|SMS|SMITH-Magenis syndrome|Smith-Magenis syndrome|Smith-Magenis syndrome chromosome region SCTID:401315004|DOID:0060768|ICD10:Q93.5|ICD9:758.33|OMIM:182290|NCIT:C75469|GARD:0008197|MESH:D058496|Orphanet:819|UMLS:C0795864 owl:Class MONDO:0100283 biolink:NamedThing overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism. tmpaxzxjjyw_mondo_relaxed.owl overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0015330 biolink:NamedThing overgrowth/obesity syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199360|Orphanet:139024 owl:Class MONDO:0006669 biolink:NamedThing bacterial endocarditis Endocarditis that is caused by an infection with a bacterial agent. tmpaxzxjjyw_mondo_relaxed.owl Bacteria endocarditis (disease)|bacterial endocarditis (disease)|bacterial endocarditis|Bacteria caused endocarditis (disease) bacterial endocarditis (disease) HP:0006689|SCTID:301183007|NCIT:C128359|MESH:D004697|MedDRA:10004019|EFO:1000830|UMLS:C0014121 owl:Class UBERON:0006589 biolink:NamedThing round ligament of uterus tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002174 biolink:NamedThing follicular cell of ovary A cell within the follicle of an ovary. tmpaxzxjjyw_mondo_relaxed.owl FMA:70589|EMAPA:31247 tmeehan 2010-08-25T03:01:27Z cell owl:Class CL:0002078 biolink:NamedThing meso-epithelial cell Epithelial cell derived from mesoderm or mesenchyme. tmpaxzxjjyw_mondo_relaxed.owl epithelial mesenchymal cell FMA:69076 tmeehan 2010-06-29T03:49:14Z cell owl:Class GO:1900248 biolink:NamedThing negative regulation of cytoplasmic translational elongation Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational elongation. tmpaxzxjjyw_mondo_relaxed.owl inhibition of cytoplasmic translational elongation|down regulation of cytoplasmic translational elongation|down-regulation of cytoplasmic translational elongation|downregulation of cytoplasmic translational elongation owl:Class GO:0045900 biolink:NamedThing negative regulation of translational elongation Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of translational elongation|downregulation of translational elongation|down-regulation of translational elongation|inhibition of translational elongation owl:Class HGNC:6091 biolink:NamedThing INSR tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25576 biolink:NamedThing NAXD tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:1000002 biolink:NamedThing substitution A sequence alteration where the length of the change in the variant is the same as that of the reference. tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0001411 biolink:NamedThing biological_region A region defined by its disposition to be involved in a biological process. tmpaxzxjjyw_mondo_relaxed.owl biological region|INSDC_note:biological_region|INSDC_misc_feature owl:Class MONDO:0054771 biolink:NamedThing keratoconus 9 tmpaxzxjjyw_mondo_relaxed.owl keratoconus 9|KTCN9 UMLS:CN244547|OMIM:617928 owl:Class UBERON:0005687 biolink:NamedThing orbitosphenoid cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015059 biolink:NamedThing orbitosphenoid endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002243 biolink:NamedThing hemorrhagic disease Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders). tmpaxzxjjyw_mondo_relaxed.owl bleeding diathesis|hemorrhagic disease|bleeding disorder|bleeding predisposition|hemorrhagic diathesis|bleeding tendency MESH:D006474|ICD10:D69.9|DOID:2213|ICD9:287.9|NCIT:C115221 owl:Class NCBITaxon:2732551 biolink:NamedThing Stellavirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732507 biolink:NamedThing Stelpaviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:25660 biolink:NamedThing TTC21B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011382 biolink:NamedThing sickle cell anemia Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur. tmpaxzxjjyw_mondo_relaxed.owl Hb-SS disease without crisis|Hemoglobin S disease|sickling disorder due to Hemoglobin S|HbS disease|Hemoglobin S disease without crisis|sickle-cell/Hb-C disease without crisis|hemoglobin SC disease|drepanocytosis|sickle cell anemia|Hb SC disease|sickle cell disease|Hb-S/Hb-C disease MedDRA:10040641|ICD10:D57.20|ICD10:D57.1|DOID:10923|ICD10:D57.0|GARD:0008614|ICD10:D57|ICD9:282.63|Orphanet:232|UMLS:C0002895|MESH:D000755|ICD9:282.60|NCIT:C34383|OMIM:603903|ICD10:D57.2|ICD9:282.6|EFO:1001797 owl:Class MONDO:0017146 biolink:NamedThing sickle cell disease and related diseases tmpaxzxjjyw_mondo_relaxed.owl ICD10:D57.2|Orphanet:275752|ICD10:D57.1|ICD10:D57.0|ICD10:D57.8|ICD10:D57.3|UMLS:CN202572 owl:Class MONDO:0021496 biolink:NamedThing benign neoplasm of lip A benign neoplasm that involves the lip. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the Lip|lip neoplasm, benign|benign tumor of Lip|benign tumor of the Lip|lip benign neoplasm|benign Lip neoplasm|benign Lip tumor SCTID:92185002|NCIT:C3591|UMLS:C0153932|ICD9:210.0|ICD10:D10.0 owl:Class GO:0006119 biolink:NamedThing oxidative phosphorylation The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. tmpaxzxjjyw_mondo_relaxed.owl respiratory-chain phosphorylation owl:Class UBERON:0036658 biolink:NamedThing wall of central canal of spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006506 biolink:NamedThing GPI anchor biosynthetic process The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. tmpaxzxjjyw_mondo_relaxed.owl glycosylphosphatidylinositol biosynthesis|GPI/GSI anchor biosynthesis|GPI anchor biosynthesis|GPI anchor anabolism|GPI anchor formation|GPI/GSI anchor biosynthetic process|GPI anchor synthesis|glycosylphosphatidylinositol biosynthetic process owl:Class GO:0006497 biolink:NamedThing protein lipidation The covalent attachment of lipid groups to an amino acid in a protein. tmpaxzxjjyw_mondo_relaxed.owl lipid:protein modification|protein amino acid lipidation owl:Class MONDO:0019277 biolink:NamedThing epidermal appendage anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:79362 owl:Class MONDO:0024481 biolink:NamedThing skin appendage disorder A disease that involves the cutaneous appendage. tmpaxzxjjyw_mondo_relaxed.owl cutaneous appendage disease|disease of epidermal appendage|disorder of skin appendage|disease of epidermal appendages|cutaneous appendage disease or disorder|disorder of cutaneous appendage|disease of cutaneous appendage|disease or disorder of cutaneous appendage SCTID:238714008|UMLS:C0037272 owl:Class MONDO:0012341 biolink:NamedThing celiac disease, susceptibility to, 3 Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene. tmpaxzxjjyw_mondo_relaxed.owl celiac disease caused by mutation in CTLA4|celiac disease, susceptibility to, type 3|gluten-sensitive enteropathy, susceptibility to, 3|CELIAC3|susceptibility to celiac disease 3|CTLA4 celiac disease|celiac disease, susceptibility to, 3 OMIM:609755 owl:Class MONDO:0006814 biolink:NamedThing iritis Inflammation of the iris. tmpaxzxjjyw_mondo_relaxed.owl iritis|inflammation of iris|iritis (disease)|iris inflammation iritis (disease) MedDRA:10022955|UMLS:C0022081|SCTID:65074000|NCIT:C50621|MESH:D007500|HP:0001101|EFO:1000997|DOID:1406 owl:Class MONDO:0005508 biolink:NamedThing hereditary multiple osteochondromas A bone neoplasm characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. tmpaxzxjjyw_mondo_relaxed.owl hereditary multiple exostoses|exostoses, multiple|hereditary multiple exostoses 3|multiple congenital exostosis|Bessel-Hagen disease|osteochondromatosis syndrome|hereditary multiple exostoses 2|multiple ostechondromas|multiple exostosis syndromes|osteochondromatosis syndrome (disorder) [ambiguous]|EXT|hereditary multiple exostosis|multiple cartilaginous exostoses|HMO|multiple exostoses|hereditary multiple exostoses 1 UMLS:CN204014|SCTID:716742001|NCIT:C5183|SCTID:254044004|GARD:0007035|OMIM:133700|ICD10:Q78.6|UMLS:C0206641|DOID:206|OMIM:133701|EFO:0005560|MESH:D005097|Orphanet:321|OMIM:600209 https://rarediseases.info.nih.gov/diseases/7035/hereditary-multiple-osteochondromas owl:Class MONDO:8000000 biolink:NamedThing infectious discitis An infection of the intervertebral disc space. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011300 biolink:NamedThing gray matter of telencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019264 biolink:NamedThing gray matter of forebrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001447 biolink:NamedThing detrusor sphincter dyssynergia tmpaxzxjjyw_mondo_relaxed.owl detrusor sphincter dyssynergia (disease)|detrusor sphincter dyssynergia detrusor sphincter dyssynergia (disease) HP:0025488|DOID:12145|UMLS:C0341747|ICD9:596.55|SCTID:236655005 owl:Class GO:1903578 biolink:NamedThing regulation of ATP metabolic process Any process that modulates the frequency, rate or extent of ATP metabolic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of ATP metabolism owl:Class MONDO:0100039 biolink:NamedThing CDKL5 disorder A monogenic disease that has material basis in mutation in the CDKL5 gene. tmpaxzxjjyw_mondo_relaxed.owl CDKL5 inherited genetic disease|CDKL5|inherited genetic disease caused by mutation in CDKL5|CDKL5 disorder|CDKL5-related disorder 2018-06-29 18:32:48+00:00 GARD:0012173 Subtypes of the heterogeneous, eponymously named Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome are caused by mutations in the gene CDKL5. The common and most penetrant phenotype shared among these disease entities is early onset epilepsy, progressive microcephaly, dysmorphic facial features, and intellectual disability, with stereotypic hand movements, respiratory impairment with breath holding and hyperventilation having variable phenotypic expressivity. https://github.com/monarch-initiative/mondo/issues/202 owl:Class UBERON:0011215 biolink:NamedThing central nervous system cell part cluster tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017575 biolink:NamedThing mitochondrial neurogastrointestinal encephalomyopathy A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy. tmpaxzxjjyw_mondo_relaxed.owl POLIP|thymidine phosphorylase deficiency|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction|Mitochondrial neurogastrointestinal encephalopathy|myoneurogastrointestinal encephalopathy syndrome|OGIMD|oculogastrointestinal muscular dystrophy|MNGIE|mitochondrial Neurogastrointestingal encephalopathy|MNGIE syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome OMIM:613662|GARD:0009920|Orphanet:298|OMIM:603041|MESH:C537477|OMIM:612075|NCIT:C119678|ICD10:G71.3|SCTID:718214007 https://rarediseases.info.nih.gov/diseases/9920/mitochondrial-neurogastrointestinal-encephalopathy-syndrome owl:Class MONDO:0009637 biolink:NamedThing inborn mitochondrial myopathy Myopathy caused by mitochondrial abnormalities. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial cytopathy|mitochondrial myopathy MESH:D017240|DOID:699|NCIT:C101328|OMIM:251900|Orphanet:206966|UMLS:C0162670|GARD:0011956|MedDRA:10027710|ICD10:G71.3 owl:Class GO:0033157 biolink:NamedThing regulation of intracellular protein transport Any process that modulates the frequency, rate or extent of the directed movement of proteins within cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006107 biolink:NamedThing benign thyroid gland neoplasm A benign neoplasm arising from the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl thyroid gland benign neoplasm|thyroid neoplasm, benign|benign neoplasm of the thyroid gland|benign neoplasm of thyroid|benign thyroid gland neoplasm|benign thyroid neoplasm|benign thyroid tumor|benign neoplasm of thyroid gland|benign thyroid gland tumor|benign neoplasm of the thyroid|benign tumor of thyroid gland|benign neoplasm of thyroid glands|benign tumor of the thyroid gland|benign tumor of the thyroid|benign tumor of thyroid NCIT:C3628|SCTID:92439006|ICD9:226|EFO:1000122|UMLS:C0154038 owl:Class MONDO:0015074 biolink:NamedThing thyroid tumor A benign or malignant neoplasm affecting the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the thyroid|neoplasm of the thyroid gland|neoplasm of thyroid|thyroid neoplasms|thyroid gland neoplasm (disease)|thyroid tumor|thyroid neoplasm|tumor of thyroid gland|THYROID|thyroid gland tumor|tumor of the thyroid|tumor of the thyroid gland|neoplasm of thyroid gland|thyroid gland neoplasm|tumor of thyroid ONCOTREE:THYROID|SCTID:127018007|ICD9:239.7|EFO:0003841|Orphanet:100087|NCIT:C3414 Editor note: TODO MONDO:0021217 owl:Class MONDO:0006117 biolink:NamedThing breast diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma. tmpaxzxjjyw_mondo_relaxed.owl breast DLBCL|breast diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of breast UMLS:C1511306|EFO:1000144|NCIT:C40375 owl:Class MONDO:0008118 biolink:NamedThing odontomatosis-aortae esophagus stenosis syndrome Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. tmpaxzxjjyw_mondo_relaxed.owl odontoma-dysphagia syndrome|odontoma dysphagia syndrome|boder syndrome|Odontomatosis (multiple odontomas) with dysphagia Orphanet:2724|OMIM:164330|GARD:0000238|SCTID:716180009|MESH:C537740|UMLS:C1834013 owl:Class MONDO:0008073 biolink:NamedThing familial juvenile hyperuricemic nephropathy type 1 A rare kidney disorder characterized by hyperuricemia, progressive nephropathy, and gout occurring at an early age. tmpaxzxjjyw_mondo_relaxed.owl glomerulocystic kidney disease with hyperuricemia and isosthenuria|UMOD-associated familial juvenile hyperuricemic nephropathy|uromodulin storage disease|medullary cystic kidney disease 2|UMOD-associated FJHN|familial juvenile hyperuricaemic nephropathy|medullary cystic kidney disease type 2|hyperuricemic nephropathy, familial juvenile|medullary cystic kidney disease 2, autosomal dominant|familial juvenile hyperuricemic nephropathy caused by mutation in UMOD|hyperuricemic nephropathy, familial juvenile, 1|gouty nephropathy, familial juvenile|HNFJ1|hyperuricemic nephropathy, familial juvenile, type 1|UMOD familial juvenile hyperuricemic nephropathy|medullary cystic kidney disease type II|uromodulin-associated kidney disease|FJHN type 1|UMOD-related kidney disease|nephropathy, familial, with gout|familial nephropathy with gout|MCKD2|familial juvenile gouty nephropathy NCIT:C123172|EFO:0008618|OMIM:162000|UMLS:C1835934|Orphanet:209886|UMLS:C4054550|SCTID:445503007|GARD:0006806|UMLS:CN239214|OMIM:603860|OMIM:609886|MESH:C563693 https://rarediseases.info.nih.gov/diseases/6806/familial-juvenile-hyperuricaemic-nephropathy owl:Class MONDO:0000608 biolink:NamedThing familial juvenile hyperuricemic nephropathy tmpaxzxjjyw_mondo_relaxed.owl nephropathy, familial, with gout|familial nephropathy with gout|juvenile gouty nephropathy|tubulointerstitial kidney disease|juvenile gout|gouty nephropathy, familial|gouty nephropathy, familial juvenile|familial nephropathy associated with hyperuricemia|FJHN|familial juvenile hyperuricemic nephropathy|familial juvenile gouty nephropathy OMIM:613092|OMIMPS:162000|DOID:0060062|OMIM:162000|MESH:C537696|OMIM:614227|UMLS:CN239392|SCTID:46785007|Orphanet:209886|Orphanet:217330|GARD:0000067 owl:Class MONDO:0009689 biolink:NamedThing congenital myasthenic syndrome 6 Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl CMS Ia2|FIM|FIMG2, formerly|FIMG2|CMS1A2, formerly|myasthenia, familial infantile|presynaptic congenital myasthenic syndrome 6|congenital presynaptic myasthenic syndrome associated with episodic apnea|congenital myasthenic syndrome with episodic apnea|myasthenia gravis, familial infantile, 2, formerly|CMS6|myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|myasthenia gravis, familial infantile, 2|CHAT congenital myasthenic syndrome|myasthenia familial infantile|CMS Ia2, formerly|congenital myasthenic syndrome 6, presynaptic|familial infantile myasthenia|myasthenia gravis familial infantile 2 (formerly)|myasthenic syndrome congenital associated with episodic apnea|congenital myasthenic syndrome type 6|myasthenia, familial infantile, formerly|Cms Ia2, formerly|CMS1A|Cms Ia2|CMS w/episodic apnea|congenital myasthenic syndrome type Ia2, formerly|FIM, formerly|myasthenic syndrome, congenital, 6, presynaptic|CMS-ea|congenital myasthenic syndrome type 1a|familial infantile myasthenia gravis 2|myasthenic syndrome, congenital, associated with episodic apnea|FIMG2 (formerly)|CMS1A2|CMSEA|congenital myasthenic syndrome type Ia2|congenital myasthenic syndrome 6|congenital myasthenic syndrome type Ia|congenital myasthenic syndrome caused by mutation in CHAT SCTID:230670003|ICD9:358.00|Orphanet:590|MESH:C535759|NCIT:C132292|UMLS:C0393929|DOID:0110671|GARD:0009689|Orphanet:98914|OMIM:254210 https://rarediseases.info.nih.gov/diseases/9689/congenital-myasthenic-syndrome-with-episodic-apnea owl:Class MONDO:0002450 biolink:NamedThing prostatic adenoma Focal benign glandular hyperplasia in the prostate gland. tmpaxzxjjyw_mondo_relaxed.owl prostate gland adenoma|adenoma - prostate|adenoma of the prostate|adenoma of prostate|prostate adenoma|benign adenoma of prostate UMLS:C0520477|NCIT:C4795|ICD9:600.20|DOID:2883|SCTID:266569009|MESH:D011470|SCTID:21173002 owl:Class PATO:0015021 biolink:NamedThing combustibility The propensity of a material to undergo combustion. Combustion encompasses smouldering and flaming combustion. Combustibility is usually applied to solids. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002625 biolink:NamedThing seminiferous tubule epithelial cell A cell of the seminiferous tubule epithelium. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-15T11:59:23Z cell owl:Class MONDO:0043543 biolink:NamedThing iatrogenic disease Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment. tmpaxzxjjyw_mondo_relaxed.owl conditions, hospital-acquired|hospital acquired condition|iatrogenic diseases|diseases, iatrogenic|disease, iatrogenic|hospital-acquired conditions|iatrogenic disorder|condition, hospital-acquired|hospital-acquired condition UMLS:C0020732|MESH:D007049|SCTID:12456005|ICD9:799.9 owl:Class MONDO:0006060 biolink:NamedThing nasopharyngeal squamous cell carcinoma A squamous cell carcinoma that arises from the nasopharynx. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000058 owl:Class MONDO:0019356 biolink:NamedThing urogenital tract malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:83001 owl:Class MONDO:0006558 biolink:NamedThing pemphigoid gestationis A rare pregnancy-associated autoimmune skin disease that is characterised by an itchy rash that develops into blisters. It is most common during the second and third trimesters of pregnancy. It was previously known as herpes gestationis although it has no association with the herpes virus whatsoever. tmpaxzxjjyw_mondo_relaxed.owl gestational herpes|pemphigoid gestationis|Herpes gestationis NOS (disorder)|Herpes gestationis (disorder)|Herpes gestationis unspecified (disorder)|gestational pemphigoid|Herpes gestationis|pemphigus gestationis ICD10:O26.40|ICD10:O26.4|ICD9:646.80|GARD:0006497|NCIT:C85003|ICD10:L12.8|Orphanet:63275|Wikipedia:Gestational_pemphigoid|DOID:14482|MESH:D006559|UMLS:C0019343|SCTID:86081009|ICD10CM:O26.4|EFO:1000709|MedDRA:10019939|DOID:0040098 https://rarediseases.info.nih.gov/diseases/6497/pemphigoid-gestationis owl:Class MONDO:0001688 biolink:NamedThing toxic optic neuropathy tmpaxzxjjyw_mondo_relaxed.owl ICD9:377.34|UMLS:C0155303|ICD10:H46.3|SCTID:26125006|DOID:13329 Editor note: todo - grouping class owl:Class GO:0042592 biolink:NamedThing homeostatic process Any biological process involved in the maintenance of an internal steady state. tmpaxzxjjyw_mondo_relaxed.owl regulation of homeostatic process|positive regulation of homeostatic process|negative regulation of homeostatic process|homeostasis|activation of homeostatic process|inhibition of homeostatic process owl:Class GO:0065008 biolink:NamedThing regulation of biological quality Any process that modulates a qualitative or quantitative trait of a biological quality. A biological quality is a measurable attribute of an organism or part of an organism, such as size, mass, shape, color, etc. tmpaxzxjjyw_mondo_relaxed.owl regulation of biological attribute|regulation of biological characteristic owl:Class MONDO:0006617 biolink:NamedThing vesiculobullous skin disease Skin diseases characterized by local or general distributions of blisters. They are classified according to the site and mode of blister formation. Lesions can appear spontaneously or be precipitated by infection, trauma, or sunlight. Etiologies include immunologic and genetic factors. (From Scientific American Medicine, 1990) tmpaxzxjjyw_mondo_relaxed.owl vesicular skin diseases|vesiculobullous skin disease|pustular dermatosis, subcorneal|bullous skin disease|vesiculobullous dermatoses|dermatoses, subcorneal pustular|bullous dermatoses|subcorneal pustular dermatoses|dermatosis, subcorneal pustular|dermatoses, bullous|skin disease, bullous|dermatoses, vesiculobullous|bullous skin diseases|skin diseases, bullous|vesiculobullous skin diseases|Sneddon-Wilkinson disease|pustular dermatoses, subcorneal|subcorneal pustular dermatosis|skin disease, vesicular|Sneddon Wilkinson disease|skin disease, vesiculobullous|skin diseases, vesicular|vesicular skin disease EFO:1000774|DOID:2731|MESH:D012872|UMLS:C0037275 owl:Class HGNC:6709 biolink:NamedThing LTA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007339 biolink:NamedThing blepharocheilodontic syndrome An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth. tmpaxzxjjyw_mondo_relaxed.owl ectropion inferior-cleft lip and or palate syndrome|lagophthalmia-cleft lip and palate syndrome|BCD syndrome|blepharocheilodontic syndrome 1|clefting-ectropion-conical teeth syndrome|Elsching syndrome|Elschnig syndrome|blepharo-cheilo-odontic syndrome|ectropion inferior cleft lip and or palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|blepharo-cheilo-dontic syndrome|lagophthalmia with bilateral cleft lip and palate|blepharocheilodontic syndrome|BCDS|BCDS1|ectropion inferior-cleft lip and/or palate syndrome UMLS:C1861536|Orphanet:1997|DOID:0080344|ICD10:Q87.8|GARD:0002071|MESH:C536188|SCTID:717911008|OMIMPS:119580 https://rarediseases.info.nih.gov/diseases/2071/ectropion-inferior-cleft-lip-and-or-palate owl:Class MONDO:0020717 biolink:NamedThing autosomal dominant woolly hair tmpaxzxjjyw_mondo_relaxed.owl ADWH OMIM:194300|DOID:0111573 owl:Class MONDO:0008686 biolink:NamedThing isolated familial woolly hair disorder Woolly hair is a rare congenital abnormality of the structure of the scalp hair marked by extreme kinkiness of the hair. tmpaxzxjjyw_mondo_relaxed.owl familial wooly hair syndrome|woolly hair, autosomal dominant|hereditary woolly hair syndrome|wooly hair|ADWH|woolly hair|hereditary wooly hair syndrome|familial woolly hair syndrome|hereditary woolly hair (autosomal dominant)|woolly hair syndrome|familial woolly hair (autosomal recessive) OMIM:615896|HP:0002224|OMIM:616760|UMLS:CN200245|OMIM:604379|MedDRA:10048017|SCTID:52564001|GARD:0005597|OMIM:278150|DOID:0111572|Orphanet:170|ICD10:Q84.1|MESH:C536745 owl:Class GO:0045124 biolink:NamedThing regulation of bone resorption Any process that modulates the frequency, rate or extent of bone tissue loss (resorption). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018608 biolink:NamedThing pure autonomic failure Pure autonomic failure (PAF) is a neurodegenerative disease that affects the sympathetic branch of the autonomous nervous system and that manifests with orthostatic hypotension. tmpaxzxjjyw_mondo_relaxed.owl orthostatic hypotension (a symptom)|PAF|idiopathic orthostatic hypotension (a symptom)|Pure dysautonomia|idiopathic orthostatic hypotension|Bradbury Eggleston syndrome|Pure idiopatic dysautonomia|Bradbury-Eggleston syndrome Orphanet:441|GARD:0010428|UMLS:CN205091|ICD10:G90.3|UMLS:C0393911|MESH:D054970|SCTID:84438001|UMLS:C2931939 owl:Class MONDO:0001292 biolink:NamedThing autonomic nervous system disorder A disease involving the autonomic nervous system. tmpaxzxjjyw_mondo_relaxed.owl autonomic nervous system disease|autonomic central nervous system diseases|segmental autonomic dysfunction|ANS disease|autonomic nervous system disorders|peripheral autonomic nervous system diseases|autonomic nervous system disease or disorder|autonomic dysfunctions, segmental|autonomic dysfunction, segmental|autonomic nervous disease|autonomic diseases|dysautonomia|segmental autonomic dysfunctions|disorder of the autonomic nervous system|disease or disorder of autonomic nervous system|disorder of autonomic nervous system|central autonomic nervous system diseases|disorders of the autonomic nervous system|nervous system diseases, autonomic|autonomic disease|disease of autonomic nervous system|ANS diseases|autonomic peripheral nervous system diseases|nervous system diseases, sympathetic|autonomic nervous system disorder|ANS (autonomic nervous system) diseases|disorder of peripheral autonomic nervous system ICD9:337.1|ICD9:337.9|MESH:D001342|DOID:11465|SCTID:128123007|SCTID:15241006 Editor note: We follow uberon and treat ANS as part of PNS. TODO - curate subtypes from http://neuromuscular.wustl.edu/autonomic.html owl:Class GO:1903316 biolink:NamedThing positive regulation of nitrogen cycle metabolic process Any process that activates or increases the frequency, rate or extent of nitrogen cycle metabolic process. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of nitrogen cycle metabolic process|activation of nitrogen cycle metabolic process|upregulation of nitrogen cycle metabolic process|up regulation of nitrogen cycle metabolic process owl:Class GO:0051173 biolink:NamedThing positive regulation of nitrogen compound metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of nitrogen metabolism|positive regulation of nitrogen metabolic process|activation of nitrogen metabolic process|upregulation of nitrogen metabolic process|stimulation of nitrogen metabolic process|up regulation of nitrogen metabolic process|up-regulation of nitrogen metabolic process owl:Class CHEBI:18186 biolink:NamedThing tyrosine An alpha-amino acid that is phenylalanine bearing a hydroxy substituent at position 4 on the phenyl ring. tmpaxzxjjyw_mondo_relaxed.owl 2-amino-3-(4-hydroxyphenyl)propanoic acid|3-(p-Hydroxyphenyl)alanine|2-Amino-3-(p-hydroxyphenyl)propionic acid|Tyr|Y|Tyrosin|tyrosine|tirosina|Tyrosine owl:Class CHEBI:33856 biolink:NamedThing aromatic amino acid An amino acid whose structure includes an aromatic ring. tmpaxzxjjyw_mondo_relaxed.owl Aromatic amino acid|aromatic amino acids owl:Class MONDO:0013396 biolink:NamedThing chromosome 1p32-p31 deletion syndrome 1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures. tmpaxzxjjyw_mondo_relaxed.owl brain malformations with or without urinary tract defects|monosomy 1p31p32|Del(1)(p31p32)|chromosome 1p32-p31 deletion syndrome|BRMUTD|1p31p32 microdeletion syndrome UMLS:CN226149|ICD10:Q93.5|Orphanet:401986|UMLS:C3151036|DOID:0060409|OMIM:613735|SCTID:766766005 owl:Class CHEBI:33358 biolink:NamedThing cobalt group element atom tmpaxzxjjyw_mondo_relaxed.owl group 9 elements|cobalt group elements|cobalt group element owl:Class CHEBI:33561 biolink:NamedThing d-block element atom tmpaxzxjjyw_mondo_relaxed.owl d-block element|d-block elements owl:Class NBO:0000007 biolink:NamedThing mouth movement The act of moving any of the tissues and hard structures surrounding the mouth other than teeth, jaws or filter structures [NBO:AC] tmpaxzxjjyw_mondo_relaxed.owl other moved mouth parts|mouth part movement owl:Class NBO:0000001 biolink:NamedThing body part movement A change of place or position of part of an organism that does not involve the entire organism [NBO:SMAC] tmpaxzxjjyw_mondo_relaxed.owl stationary movement owl:Class MONDO:0010362 biolink:NamedThing glycogen storage disease IXd A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness. tmpaxzxjjyw_mondo_relaxed.owl muscle glycogenosis, X-linked|muscular phosphorylase kinase deficiency|GSD9D|glycogenosis type IXd|glycogenosis due to muscle phosphorylase kinase deficiency|glycogen storage disease, type IXd|GSD IXd|GSD Vb|muscle phosphorylase kinase deficiency|glycogen storage disease type IXd|glycogen storage disease type 9D|GSD due to muscle phosphorylase kinase deficiency|glycogen storage disease due to muscle phosphorylase kinase deficiency|PHKA1 glycogen storage disease|glycogenosis type 9D|glycogen storage disease caused by mutation in PHKA1|PHKA1-related glycogen storage disease type IX|GSD type IXd|GSD type 9D DOID:0111040|ICD10:E74.0|MESH:C564485|OMIM:300559|Orphanet:715|GARD:0003858 https://rarediseases.info.nih.gov/diseases/3858/muscular-phosphorylase-kinase-deficiency owl:Class MONDO:0016118 biolink:NamedThing muscular glycogenosis tmpaxzxjjyw_mondo_relaxed.owl glycogen storage myopathy Orphanet:206959|ICD10:E74.0 owl:Class UBERON:0004471 biolink:NamedThing musculature of pectoral girdle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012849 biolink:NamedThing Joubert syndrome 9 Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene. tmpaxzxjjyw_mondo_relaxed.owl CC2D2A Joubert syndrome|JBTS9|Joubert syndrome 9/15, digenic|Joubert syndrome type 9|Joubert syndrome 9|Joubert syndrome caused by mutation in CC2D2A UMLS:C2676788|Orphanet:2318|DOID:0111004|OMIM:612285|MESH:C567364 owl:Class MONDO:0007134 biolink:NamedThing Cooks syndrome Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized. tmpaxzxjjyw_mondo_relaxed.owl Cooks syndrome|anonychia and absence/hypoplasia of distal phalanges|anonychia-onychodystrophy with hypoplasia or absence of distal phalanges|ODP|anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome GARD:0004083|MESH:C537766|OMIM:106995|ICD10:Q84.6|SCTID:720747002|Orphanet:1487|UMLS:C1862841 owl:Class MONDO:0007600 biolink:NamedThing primary Fanconi syndrome A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones. tmpaxzxjjyw_mondo_relaxed.owl FRTS1|primary Fanconi renotubular syndrome|Fanconi renotubular syndrome 1 Orphanet:3337|OMIM:134600|OMIM:615605|NCIT:C123229|ICD10:E72.0|GARD:0009118|OMIM:613388 https://rarediseases.info.nih.gov/diseases/9118/primary-fanconi-syndrome owl:Class HP:0002250 biolink:NamedThing Abnormal large intestine morphology Any abnormality of the large intestine. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the large intestine UMLS:C4025715 The large intestine comprises the cecum and colon. human_phenotype owl:Class HP:0002242 biolink:NamedThing Abnormal intestine morphology An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. tmpaxzxjjyw_mondo_relaxed.owl Enteropathy|Abnormality of the intestine UMLS:C0021831|SNOMEDCT_US:85919009|MSH:D007410 HP:0002628 human_phenotype owl:Class HGNC:4451 biolink:NamedThing GPC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011654 biolink:NamedThing intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism tmpaxzxjjyw_mondo_relaxed.owl mental retardation, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism|intellectual disability, microcephaly, growth retardation, JOINT contractures, and facial dysmorphism|Kondoh syndrome UMLS:C1853480|OMIM:606242|MESH:C565246 owl:Class HGNC:32685 biolink:NamedThing ARMS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:3010200 biolink:NamedThing vasculature of respiratory integument tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002135 biolink:NamedThing optic nerve disorder A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve). tmpaxzxjjyw_mondo_relaxed.owl cranial nerve II disease or disorder|disorder of the second nerve|disease or disorder of cranial nerve II|disorder of cranial nerve II|optic neuropathy|second cranial nerve disorder|disease of cranial nerve II|optic nerve disorder|cranial nerve II disease ICD9:377.49|MESH:D009901|NCIT:C79698|UMLS:C0029132|DOID:1891|ICD9:377.9|SCTID:77157004 owl:Class MONDO:0017212 biolink:NamedThing paraneoplastic uveitis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:279928 owl:Class MONDO:0019541 biolink:NamedThing non-infectious posterior uveitis tmpaxzxjjyw_mondo_relaxed.owl non-infectious choroiditis ICD10:H30.1|ICD10:H30.0|Orphanet:90061 owl:Class UBERON:0007128 biolink:NamedThing glomeral mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903961 biolink:NamedThing positive regulation of anion transmembrane transport Any process that activates or increases the frequency, rate or extent of anion transmembrane transport. tmpaxzxjjyw_mondo_relaxed.owl activation of anion transmembrane transport|up regulation of anion transmembrane transport|up-regulation of anion transmembrane transport|upregulation of anion transmembrane transport owl:Class MONDO:0002966 biolink:NamedThing splenic manifestation of prolymphocytic leukemia A prolymphocytic leukemia that involves the spleen. tmpaxzxjjyw_mondo_relaxed.owl splenic manifestation of prolymphocytic leukemia|spleen prolymphocytic leukemia|prolymphocytic leukemia of spleen NCIT:C7297|DOID:4334|UMLS:C1336066 owl:Class MONDO:0023045 biolink:NamedThing ectodermal dysplasia arthrogryposis diabetes mellitus tmpaxzxjjyw_mondo_relaxed.owl GARD:0002042 https://rarediseases.info.nih.gov/diseases/2042/ectodermal-dysplasia-arthrogryposis-diabetes-mellitus owl:Class MONDO:0008266 biolink:NamedThing polydactyly, postaxial, type A1 tmpaxzxjjyw_mondo_relaxed.owl PAPA1|polydactyly, postaxial|polydactyly, postaxial, type A1|postaxial polydactyly, type A|postaxial polydactyly, type B Orphanet:93334|Orphanet:93335|OMIM:174200 owl:Class UBERON:0009472 biolink:NamedThing axilla tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034929 biolink:NamedThing external soft tissue zone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019669 biolink:NamedThing hypochondrogenesis tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q77.0|Orphanet:93297|OMIM:200610|DOID:0080044 owl:Class MONDO:0022800 biolink:NamedThing type 2 collagenopathy Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene. tmpaxzxjjyw_mondo_relaxed.owl COL2A1 disease or disorder|collagen II|disease or disorder caused by mutation in COL2A1|COL2A1|collagenopathy type 2 alpha 1|cartilage collagen UMLS:CN227672|MESH:C535964|UMLS:C2931073|GARD:0009246|Orphanet:93421|HGNC:2200 https://github.com/monarch-initiative/mondo/issues/3698|https://rarediseases.info.nih.gov/diseases/9246/collagenopathy-type-2-alpha-1|https://github.com/monarch-initiative/mondo/issues/3574 owl:Class HGNC:30760 biolink:NamedThing TMEM165 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004180 biolink:NamedThing benign urinary system neoplasm A non-metastasizing neoplasm that arises from the organs that comprise the urinary system. Representative examples include renal oncocytoma, bladder inverted papilloma, and urothelial papilloma. tmpaxzxjjyw_mondo_relaxed.owl urinary system benign neoplasm|renal system benign neoplasm|benign urinary tract neoplasm|benign tumor of the urinary tract|neoplasm of urinary system|benign tumor of urinary tract|urinary tract neoplasm|tumor of the urinary system|benign neoplasm of the urinary tract|tumor of urinary tract|benign urinary tract tumor|benign neoplasm of urinary tract|benign urinary system neoplasm SCTID:92468007|ICD9:223.9|ICD9:223.89|NCIT:C3431|DOID:731|NCIT:C4893|MESH:D014571|SCTID:126879004 owl:Class MONDO:0012107 biolink:NamedThing neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia tmpaxzxjjyw_mondo_relaxed.owl neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia UMLS:C1837492|OMIM:608720|MESH:C563870 owl:Class UBERON:0011818 biolink:NamedThing superficial fascia tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100296 biolink:NamedThing Olmsted syndrome 1 Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques. tmpaxzxjjyw_mondo_relaxed.owl mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|palmoplantar keratoderma, mutilating, with periorificial keratotic plaques|Olmsted syndrome|palmoplantar and periorificial keratoderma OMIM:300918|UMLS:C2609071|OMIM:614594|GARD:0004075|Orphanet:659|ICD10:Q82.8|MedDRA:10068842 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0031421 biolink:NamedThing Olmsted syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:614594 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014676 biolink:NamedThing Emery-Dreifuss muscular dystrophy 3, autosomal recessive Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene. tmpaxzxjjyw_mondo_relaxed.owl Emery-Dreifuss muscular dystrophy 3, autosomal recessive|EMERY-Dreifuss muscular dystrophy 3, autosomal recessive|LMNA autosomal recessive Emery-Dreifuss muscular dystrophy|autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA|EDMD3 Orphanet:261|MESH:C567633|UMLS:C2750035|DOID:0070248|OMIM:616516|Orphanet:98855 owl:Class MONDO:0008406 biolink:NamedThing autosomal recessive Emery-Dreifuss muscular dystrophy Autosomal recessive form of Emery-Dreifuss muscular dystrophy. tmpaxzxjjyw_mondo_relaxed.owl Emery-Dreifuss muscular dystrophy, autosomal recessive|EDMD3 UMLS:C2750035|OMIM:616516|ICD10:G71.0|Orphanet:98855|MESH:D020389 owl:Class HP:0000090 biolink:NamedThing Nephronophthisis Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. tmpaxzxjjyw_mondo_relaxed.owl juvenile nephronophthisis UMLS:C0687120|SNOMEDCT_US:204958008 Nephronophthisis is here regarded as a phenotypic feature. The disease of the same name results in progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. HP:0004748 human_phenotype owl:Class HP:0100957 biolink:NamedThing Abnormal renal medulla morphology Any structural abnormality of the medulla of the kidney. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the renal medulla UMLS:C4021911 The renal pyramids of the adult kidney resemble a cone with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. The adult renal medulla is made up of 10-18 pyramids. A pyramid consists of the medullary collecting ducts, loops of Henle, vasa recta (straight capillaries) and the interstitium. The main function of the medulla is to regulate concentration of the urine. The urine flows from the collecting ducts into the renal calyces and pelvis. doelkens 2011-12-12T10:02:15Z HP:0005582 human_phenotype owl:Class MONDO:0019239 biolink:NamedThing inborn disorder of serine family metabolism An acquired metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of serine or glycine metabolism|inborn error of serine family amino acid metabolic process|inborn disorder of serine or glycine metabolism|rare inborn error of serine family amino acid metabolic process|inborn serine family amino acid metabolic process disorder UMLS:CN227601|Orphanet:79194 owl:Class PATO:0001546 biolink:NamedThing quality of a solid A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity characterized by particles arranged such that their shape and volume are relatively stable. tmpaxzxjjyw_mondo_relaxed.owl solidity owl:Class UBERON:0035435 biolink:NamedThing right suprarenal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002293 biolink:NamedThing epithelial cell of thymus An epithelial cell of the thymus. Epithelial reticular cells are pleomorphic, stellate, non-phagocytic cells which seem to be supportive in function and are held together by desmosomes. They replace the fibroblastoid reticular cells found in other lymphoid organs. Other epithelial cells in the medulla have the ultrastructure of secretory cells. Although different epithelial cells throughout the thymus appear alike by light microscopy their ultrastructure and function varies. tmpaxzxjjyw_mondo_relaxed.owl thymic epithelial cell|epithelial reticular cell of thymus|epithelial cell of thymus gland|epithelial reticular cell CALOHA:TS-1040|FMA:72208 tmeehan 2010-09-13T02:34:22Z CL:1000459 cell owl:Class CL:0002076 biolink:NamedThing endo-epithelial cell An epithelial cell derived from endoderm. tmpaxzxjjyw_mondo_relaxed.owl FMA:69075 tmeehan 2010-06-29T03:38:14Z cell owl:Class MONDO:0008375 biolink:NamedThing retinal detachment An eye emergency condition which may lead to blindness if left untreated. It is characterized by the separation of the inner retina layers from the underlying pigment epithelium. Causes include trauma, advanced diabetes mellitus, high myopia, and choroid tumors. Symptoms include sudden appearance of floaters, sudden light flushes, and blurred vision. tmpaxzxjjyw_mondo_relaxed.owl detached retina|retina, detached|retinal detachment ICD9:361.89|NCIT:C26874|MESH:D012163|SCTID_2010_1_31:155103005|ICD9:361.9|SCTID:42059000|DOID:5327|OMIM:180050|UMLS:C0035305|SCTID_2010_1_31:193347002|EFO:0005773|SCTID_2010_1_31:42059000|ICD9:362.40|ICD10:H33.2 owl:Class UBERON:0004727 biolink:NamedThing cochlear nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002759 biolink:NamedThing regulation of antimicrobial humoral response Any process that modulates the frequency, rate, or extent of an antimicrobial humoral response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000491 biolink:NamedThing Keratitis Inflammation of the cornea. tmpaxzxjjyw_mondo_relaxed.owl Corneal inflammation MSH:D007634|UMLS:C0022568|SNOMEDCT_US:5888003 human_phenotype owl:Class MONDO:0031003 biolink:NamedThing hypercholanemia, familial, 2 tmpaxzxjjyw_mondo_relaxed.owl NTCP Deficiency|FHCA2 OMIM:619256 owl:Class MONDO:0100327 biolink:NamedThing hypercholanemia, familial tmpaxzxjjyw_mondo_relaxed.owl hypercholanemia, familial|familial hypercholanemia OMIMPS:607748 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0098647 biolink:NamedThing collagen beaded filament A supramolecular assembly of collagen trimers with a 'beads on a string'-like structure. tmpaxzxjjyw_mondo_relaxed.owl beads on a string owl:Class MONDO:0015921 biolink:NamedThing ARX-related epileptic encephalopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:182079 owl:Class HGNC:13797 biolink:NamedThing PRX tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0090205 biolink:NamedThing positive regulation of cholesterol metabolic process Any process that increases the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045940 biolink:NamedThing positive regulation of steroid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving steroids. tmpaxzxjjyw_mondo_relaxed.owl upregulation of steroid metabolic process|up-regulation of steroid metabolic process|activation of steroid metabolic process|up regulation of steroid metabolic process|positive regulation of steroid metabolism|stimulation of steroid metabolic process owl:Class MONDO:0020576 biolink:NamedThing cutaneous vasculitis Inflammation of the blood vessel wall characterized by palpable purpura. tmpaxzxjjyw_mondo_relaxed.owl cutaneous vasculitis UMLS:C0262988|NCIT:C112210 owl:Class MONDO:0018882 biolink:NamedThing vasculitis Vasculitis represents a clinically heterogenous group of diseases of multifactorial etiology characterized by inflammation of either large-sized vessels (large-vessel vasculitis, e.g. Giant-cell arteritis and Takayasu arteritis), medium-sized vessels (medium-vessel vasculitis e.g. polyarteritis nodosa and Kawasaki disease), or small-sized vessels (small-vessel vasculitis, e.g. granulomatosis with polyangiitis, microscopic polyangiitis, immunoglobulin A vasculitis, and cutaneous leukocytoclastic angiitis). Vasculitis occurs at any age, may be acute or chronic, and manifests with general symptoms such as fever, weight loss and fatigue, as well as more specific clinical signs depending on the type of vessels and organs affected. The degree of severity is variable, ranging from life or sight threatening disease (e.g. BehC'et disease) to relatively minor skin disease. tmpaxzxjjyw_mondo_relaxed.owl angiitis|systemic vasculitis EFO:0006803|GARD:0009565|MedDRA:10036023|MESH:D014657|UMLS:C0042384|Orphanet:52759|Wikipedia:Vasculitis|NCIT:C26912|MedDRA:10047115|DOID:865|SCTID:31996006|OMIM:615688 owl:Class MONDO:0000539 biolink:NamedThing striated muscle rhabdoid tumor A rhabdoid tumor that involves the striated muscle tissue. tmpaxzxjjyw_mondo_relaxed.owl striated muscle tissue rhabdoid tumor DOID:0050924 owl:Class HGNC:11094 biolink:NamedThing SNAI2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003412 biolink:NamedThing pelvic appendage bud mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0032368 biolink:NamedThing Acidemia An abnormally low blood pH (usually defined as less than 7.35). tmpaxzxjjyw_mondo_relaxed.owl 2019-02-23 18:37:21+00:00 When describing acid-base abnormalities, acidosis and alkalosis refer to physiological processes that lower or raise the pH, respectively, while acidemia and alkalemia simply describe the state of an abnormal blood pH. This distinction is important: a patient with acidemia could have both a respiratory and metabolic acidosis as well as a concurrent metabolic alkalosis. peter human_phenotype owl:Class HP:0004360 biolink:NamedThing Abnormality of acid-base homeostasis An abnormality of the balance or maintenance of the balance of acids and bases in bodily fluids, resulting in an abnormal pH. tmpaxzxjjyw_mondo_relaxed.owl Acid base imbalance UMLS:C0001118|MSH:D000137 peter 2008-03-17T03:35:00Z human_phenotype owl:Class HP:0001305 biolink:NamedThing Dandy-Walker malformation A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. tmpaxzxjjyw_mondo_relaxed.owl Dandy-walker anomaly|Dandy-Walker cyst SNOMEDCT_US:14447001|MSH:D003616|UMLS:C0010964 HP:0006809|HP:0001313 human_phenotype owl:Class HP:0002350 biolink:NamedThing Cerebellar cyst tmpaxzxjjyw_mondo_relaxed.owl Cerebellar cysts UMLS:C1847762 human_phenotype owl:Class CL:0002257 biolink:NamedThing epithelial cell of thyroid gland An epithelial cell of thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl FMA:256167 tmeehan 2010-09-08T01:46:51Z CL:1000297 cell owl:Class MONDO:0000519 biolink:NamedThing corpus callosum oligodendroglioma A oligodendroglioma that involves the corpus callosum. tmpaxzxjjyw_mondo_relaxed.owl corpus callosum oligodendroglioma|oligodendroglioma of corpus callosum DOID:0050901 owl:Class GO:0045722 biolink:NamedThing positive regulation of gluconeogenesis Any process that activates or increases the frequency, rate or extent of gluconeogenesis. tmpaxzxjjyw_mondo_relaxed.owl activation of gluconeogenesis|up regulation of gluconeogenesis|up-regulation of gluconeogenesis|stimulation of gluconeogenesis|upregulation of gluconeogenesis owl:Class GO:0002794 biolink:NamedThing regulation of antimicrobial peptide secretion Any process that modulates the frequency, rate, or extent of antimicrobial peptide secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016309 biolink:NamedThing Niemann-Pick disease type C, juvenile neurologic onset tmpaxzxjjyw_mondo_relaxed.owl Niemann-Pick disease type C, classic form ICD10:E75.2|Orphanet:216981|UMLS:CN201115 owl:Class CL:0000652 biolink:NamedThing pinealocyte This cell type produces and secretes melatonin and forms the pineal parenchyma. Extending from each cell body, which has a spherical, oval or lobulated mucleus, are one or more tortuous basophilic processes, containing parallel microtubules known as synaptic ribbons. These processes end in expanded terminal buds near capillaries or less, frequently, ependymal cells of the pineal recess. The terminal buds contain granular endoplasmic reticulum, mitochondria and electron-dense cored vesicles, which store monoamines and polypeptide hormones, release of which appears to require sympathetic innervation. tmpaxzxjjyw_mondo_relaxed.owl FMA:83417|BTO:0001068 cell owl:Class MONDO:0010439 biolink:NamedThing cardiomyopathy, fatal fetal, due to myocardial calcification tmpaxzxjjyw_mondo_relaxed.owl myocardial calcifications resulting in intrauterine fetal death|cardiomyopathy, fatal fetal, due to myocardial calcification UMLS:C1853577|MESH:C543241|OMIM:300829|GARD:0008311 https://rarediseases.info.nih.gov/diseases/8311/cardiomyopathy-fatal-fetal-due-to-myocardial-calcification owl:Class MONDO:0019139 biolink:NamedThing acquired hemophilia Acquired hemophilia A (AHA) is a rare,often severe, hematological autoimmune disorder characterized by spontaneous hemorrhages into the skin, muscles, soft tissues,or mucous membranes. tmpaxzxjjyw_mondo_relaxed.owl acquired haemophilia|hemophilia, acquired|acquired hemophilia GARD:0010350|ICD10:D68.4|ICD10:D68.311|UMLS:C1096116|MedDRA:10053745|MESH:C536392|Orphanet:73274 owl:Class GO:1900004 biolink:NamedThing negative regulation of serine-type endopeptidase activity Any process that stops, prevents or reduces the frequency, rate or extent of serine-type endopeptidase activity. tmpaxzxjjyw_mondo_relaxed.owl down regulation of serine-type endopeptidase activity|negative regulation of blood coagulation factor activity|down regulation of blood coagulation factor activity owl:Class GO:1902572 biolink:NamedThing negative regulation of serine-type peptidase activity Any process that stops, prevents or reduces the frequency, rate or extent of serine-type peptidase activity. tmpaxzxjjyw_mondo_relaxed.owl inhibition of serine-type peptidase activity|down regulation of serine protease activity|downregulation of serine protease activity|negative regulation of serine protease activity|down regulation of serine-type peptidase activity|inhibition of serine protease activity|downregulation of serine-type peptidase activity|down-regulation of serine-type peptidase activity|down-regulation of serine protease activity owl:Class PATO:0000060 biolink:NamedThing spatial pattern A spatial quality inhering in a bearer by virtue of the bearer's exhibiting repetition of placement of its parts. tmpaxzxjjyw_mondo_relaxed.owl pattern|distribution owl:Class MONDO:0009701 biolink:NamedThing myopathy, granulovacuolar lobular, with electrical myotonia tmpaxzxjjyw_mondo_relaxed.owl myopathy, granulovacuolar lobular, with electrical myotonia OMIM:254950|MESH:C564974|UMLS:C1850745 owl:Class MONDO:0001997 biolink:NamedThing root resorption Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl DOID:14550|MESH:D012391|UMLS:C0035851 owl:Class MONDO:0001670 biolink:NamedThing tooth resorption Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676) tmpaxzxjjyw_mondo_relaxed.owl MESH:D014091|ICD9:521.4|UMLS:C0040451|ICD10:K03.3|SCTID:70931000|DOID:13240 owl:Class MONDO:0001661 biolink:NamedThing background diabetic retinopathy An early stage of diabetic retinopathy that is characterized by retinal hemorrhage and exudate, but without proliferation of the blood vessels. tmpaxzxjjyw_mondo_relaxed.owl non proliferative diabetic retinopathy|non-proliferative diabetic retinopathy NCIT:C35668|SCTID:390834004|NCIT:C34408|DOID:13208|UMLS:C0004606|ICD9:362.01|ICD9:362.03 owl:Class MONDO:0005266 biolink:NamedThing diabetic retinopathy A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness. tmpaxzxjjyw_mondo_relaxed.owl retinal abnormality - diabetes-related OMIM:603933|ICD9:362.0|OMIM:612635|OMIM:612633|ICD10:H36.0|SCTID:4855003|UMLS:C0011884|EFO:0003770|MESH:D003930|OMIM:612623|NCIT:C34538|DOID:8947 owl:Class HsapDv:0000144 biolink:NamedThing 50-year-old human stage Middle aged stage that refers to an adult who is over 50 and under 51. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100245 biolink:NamedThing acquired paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal hematopoietic stem cell disorder characterized by corpuscular hemolytic anemia, bone marrow failure and frequent thrombotic events. tmpaxzxjjyw_mondo_relaxed.owl paroxysmal hemoglobinuria|PNH|Marchiafava-Micheli disease 2022-04-01 UMLS:C0024790|ICD10:D59.6|ICD10:D59.1|NCIT:C61233|Orphanet:447|HGNC:8957|SCTID:1963002|MedDRA:10034042|UMLS:C0019050|ICD10:D59.5|GARD:0007337|DOID:0060284 Reason: duplicate. This will be merged with MONDO:0100244 paroxysmal nocturnal hemoglobinuria. 'paroxysmal nocturnal hemoglobinuria' appears to always be acquired. We therefore do not need to make the distinction between 'acquired' and 'inherited'. http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/7337/paroxysmal-nocturnal-hemoglobinuria owl:Class MONDO:0100244 biolink:NamedThing paroxysmal nocturnal hemoglobinuria An instance of paroxysmal nocturnal hemoglobinuria that is inherited or acquired. tmpaxzxjjyw_mondo_relaxed.owl SCTID:1963002|HP:0004818 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4232 owl:Class MONDO:0007624 biolink:NamedThing Flynn-Aird syndrome Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne. tmpaxzxjjyw_mondo_relaxed.owl Flynn-Aird syndrome|cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental|Flynn Aird syndrome ICD10:Q87.8|OMIM:136300|GARD:0002347|Orphanet:2047|SCTID:239056006|UMLS:C0343108|MESH:C537066 https://rarediseases.info.nih.gov/diseases/2347/flynn-aird-syndrome owl:Class UBERON:0002061 biolink:NamedThing truncus arteriosus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18292 biolink:NamedThing CFC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007135 biolink:NamedThing nonsyndromic congenital nail disorder 6 tmpaxzxjjyw_mondo_relaxed.owl onychodystrophy-anonychia|nail disorder, nonsyndromic congenital, 6|NDNC6|anonychia, partial|anonychia/hyponychia and onychodystrophy|nonsyndromic congenital nail disorder type 6|absent nails and dystrophic nails UMLS:C1862840|GARD:0000710|OMIM:107000|Orphanet:90390|DOID:0080084|Orphanet:79143 owl:Class MONDO:0019211 biolink:NamedThing isolated congenital anonychia Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern. tmpaxzxjjyw_mondo_relaxed.owl congenital anonychia|isolated anonychia|autosomal recessive nonsyndromic congenital nail disorder-4|nonsyndromic congenital nail disorder, 4 OMIM:107000|Orphanet:79143|OMIM:614149|GARD:0012930|OMIM:206800|ICD10:Q84.3 owl:Class MONDO:0008620 biolink:NamedThing upper limb mesomelic dysplasia This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity. tmpaxzxjjyw_mondo_relaxed.owl ulnar hypoplasia|ulna hypoplasia|upper limb mesomelic dysplasia|Fryns Hofkens Fabry syndrome|Fryns-Hofkens-Fabry syndrome OMIM:191440|GARD:0002408|MESH:C538069|Orphanet:2497|ICD10:Q78.8 owl:Class MONDO:0019923 biolink:NamedThing Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 tmpaxzxjjyw_mondo_relaxed.owl UPD(11)pat|Mosaic paternal uniparental disomy of chromosome 11|Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome type 11 UMLS:CN206842|Orphanet:96193|ICD10:Q87.3 owl:Class GO:0050910 biolink:NamedThing detection of mechanical stimulus involved in sensory perception of sound The series of events involved in the perception of sound vibration in which the vibration is received and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl perception of sound, sensory detection of mechanical stimulus|sensory transduction of sound|perception of sound, sensory transduction of mechanical stimulus|hearing, sensory transduction of sound|perception of sound, detection of mechanical stimulus|sensory detection of mechanical stimulus during perception of sound|sensory transduction of mechanical stimulus during perception of sound|detection of sound owl:Class GO:0050877 biolink:NamedThing nervous system process A organ system process carried out by any of the organs or tissues of neurological system. tmpaxzxjjyw_mondo_relaxed.owl pan-neural process|neurological system process|neurophysiological process owl:Class MONDO:0004737 biolink:NamedThing homocystinuria An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. tmpaxzxjjyw_mondo_relaxed.owl homocystinuria (disease)|cystathionine beta synthase deficiency|cystathionine synthase deficiency|CBS deficiency|homocystinuria homocystinuria (disease) HP:0002156|OMIM:236250|NCIT:C84765|ICD10:E72.11|Orphanet:394|OMIM:236200|GARD:0010770|SCTID:11282001|DOID:9263|UMLS:C0019880 owl:Class MONDO:0016908 biolink:NamedThing partial monosomy of the long arm of chromosome 9 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 9q|partial monosomy of the long arm of chromosome type 9|partial deletion of the long arm of chromosome 9|partial deletion of chromosome 9q ICD10:Q93.5|Orphanet:262074 owl:Class MONDO:0016874 biolink:NamedThing partial deletion of chromosome 9 tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome type 9|partial monosomy of chromosome 9 ICD10:Q93.5|Orphanet:261806 owl:Class UBERON:0006435 biolink:NamedThing os penis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007719 biolink:NamedThing bone of reproductive organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024627 biolink:NamedThing phagocytic cell dysfunction tmpaxzxjjyw_mondo_relaxed.owl defective phagocytosis|phagocytic cell dysfunction UMLS:C0398732|SCTID:302874002 owl:Class MONDO:0010269 biolink:NamedThing Coats disease Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children. tmpaxzxjjyw_mondo_relaxed.owl congenital retinal telangiectasia|Coats' syndrome|retinal telangiectasis|Coats' disease|Coats disease|Leber miliary aneurysm|exudative retinopathy MedDRA:10015901|ICD10:H35.07|MESH:D058456|Orphanet:190|UMLS:C0154832|ICD9:362.12|OMIM:300216|SCTID:360455002|ICD10:H35.0|GARD:0006121|DOID:7765|ICD10:H35.02 https://rarediseases.info.nih.gov/diseases/6121/coats-disease owl:Class GO:0070887 biolink:NamedThing cellular response to chemical stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042221 biolink:NamedThing response to chemical Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a chemical stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to chemical substance|response to chemical stimulus owl:Class MONDO:0008252 biolink:NamedThing platelet adenylate cyclase activity tmpaxzxjjyw_mondo_relaxed.owl platelet adenylate cyclase activity OMIM:173395 owl:Class UBERON:0019303 biolink:NamedThing occipital sulcus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013118 biolink:NamedThing sulcus of brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011872 biolink:NamedThing Griscelli syndrome type 2 Griscelli syndrome type 2 (GS2) is a rare, inherited condition that affects the skin, hair, and immune system. People with GS2 have unusually light skin and silver-colored hair. They are also prone to recurrent infections and develop an immune condition called hemophagocytic lymphohistiocytosis (HLH). HLH can damage organs and tissues throughout the body, causing life-threatening complications. GS2 is caused by changes (mutations) in the RAB27A gene and is inherited in an autosomal recessive manner. The only current treatment that can extend survival is stem cell transplantation (a bone marrow transplant). Untreated, most children with GS2 do not survive past early childhood. tmpaxzxjjyw_mondo_relaxed.owl Griscelli-Pruniéras syndrome type 2|hypopigmentation-immunodeficiency with or without neurologic impairment syndrome|Griscelli syndrome type 2|partial albinism and immunodeficiency syndrome|Griscelli syndrome with hemophagocytic syndrome|Griscelli-PruniC)ras syndrome type 2|Paid syndrome|GS2|Griscelli syndrome, type 2|PAID syndrome|Griscelli-Pruni��ras syndrome type 2|Griscelli disease type 2 MESH:C537302|GARD:0004483|OMIM:607624|NCIT:C111814|Orphanet:79477|UMLS:C1868679|DOID:0060833|Orphanet:381|ICD10:E70.3 https://rarediseases.info.nih.gov/diseases/4483/griscelli-syndrome-type-2 owl:Class MONDO:0018306 biolink:NamedThing Griscelli syndrome Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3). tmpaxzxjjyw_mondo_relaxed.owl Griscelli-Pruni��ras syndrome|Ch��diak-Higashi-like syndrome|Griscelli-PruniC)ras syndrome|Griscelli-Pruniéras syndrome|ChC)diak-Higashi-like syndrome|Griscelli disease|partial albinism-immunodeficiency syndrome|Chédiak-Higashi-like syndrome OMIM:214450|SCTID:37548006|ICD10:E70.3|GARD:0010913|DOID:0060831|Orphanet:381|OMIM:609227|OMIMPS:214450|OMIM:607624|UMLS:CN204933|ICD9:270.2 https://rarediseases.info.nih.gov/diseases/10913/griscelli-syndrome owl:Class UBERON:8410051 biolink:NamedThing lymphatic vessel of colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8623 biolink:NamedThing PAX9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004782 biolink:NamedThing diabetes insipidus A disorder characterized by excretion of large amounts of urine, accompanied by excessive thirst. Causes include deficiency of antidiuretic hormone or failure of the kidneys to respond to antidiuretic hormone. It may also be drug-related. tmpaxzxjjyw_mondo_relaxed.owl GARD:0011934|ICD10:E23.2|DOID:9409|SCTID:15771004|MESH:D003919|ICD9:253.5|NCIT:C43263|UMLS:C0011848 owl:Class GO:0051340 biolink:NamedThing regulation of ligase activity Any process that modulates the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. Ligase is the systematic name for any enzyme of EC class 6. tmpaxzxjjyw_mondo_relaxed.owl ligase regulator owl:Class MONDO:0006804 biolink:NamedThing inflammatory breast carcinoma An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma. tmpaxzxjjyw_mondo_relaxed.owl mastitis Carcinomatosa|IBC|inflammatory breast cancer|breast cancer, inflammatory|mastitis carcinomatosa|inflammatory breast carcinoma|inflammatory carcinoma of breast|inflammatory carcinoma of the breast NCIT:C4001|EFO:1000984|GARD:0006784|MESH:D058922|ONCOTREE:IBC|SCTID:254840009|DOID:6263|MedDRA:10006205|UMLS:C0278601|ICDO:8530/3 owl:Class UBERON:0036288 biolink:NamedThing anterior wall of left ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036285 biolink:NamedThing wall of left ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013540 biolink:NamedThing deafness-lymphedema-leukemia syndrome Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders. tmpaxzxjjyw_mondo_relaxed.owl deafness-lymphedema-leukemia syndrome|Emberger syndrome|lymphedema, primary, with myelodysplasia GARD:0013030|Orphanet:3226|OMIM:614038|ICD10:D46.7|UMLS:C3279664|SCTID:700057001|ICD9:757.0 https://rarediseases.info.nih.gov/diseases/13030/deafness-lymphedema-leukemia-syndrome owl:Class MONDO:0019044 biolink:NamedThing tumor of hematopoietic and lymphoid tissues tmpaxzxjjyw_mondo_relaxed.owl Orphanet:68347|UMLS:CN205528 owl:Class MONDO:0013995 biolink:NamedThing cholestasis, intrahepatic, of pregnancy, 3 tmpaxzxjjyw_mondo_relaxed.owl cholestasis, intrahepatic, of pregnancy type 3|ICP3|cholestasis, intrahepatic, of pregnancy 3 OMIM:614972|DOID:0070229|EFO:0009150|Orphanet:69665|UMLS:C3554241 https://github.com/monarch-initiative/mondo/issues/3897 owl:Class MONDO:0100429 biolink:NamedThing intrahepatic cholestasis of pregnancy A cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:69665|MESH:C535932 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3897 owl:Class MONDO:0003874 biolink:NamedThing ovarian serous surface papillary adenocarcinoma A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern. tmpaxzxjjyw_mondo_relaxed.owl ovary papillary carcinoma|serous surface papillary carcinoma of ovary|serous surface papillary carcinoma of the ovary|ovarian serous surface papillary adenocarcinoma DOID:6408|UMLS:C1335178|NCIT:C6256 owl:Class MONDO:0019614 biolink:NamedThing pituitary deficiency due to Rathke's pouch cysts tmpaxzxjjyw_mondo_relaxed.owl pituitary deficiency due to Rathke's cleft cysts Orphanet:91350|ICD10:E23.0 owl:Class MONDO:0012639 biolink:NamedThing hereditary spastic paraplegia 18 A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2. tmpaxzxjjyw_mondo_relaxed.owl SPG18|autosomal recessive spastic paraplegia type 18|intellectual disability, motor dysfunction and joint contractures|spastic paraplegia 18|hereditary spastic paraplegia type 18|intellectual disability, motor dysfunction, and Joint contractures|spastic paraplegia 18, autosomal recessive|autosomal recessive spastic paraplegia 18|autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2|ERLIN2 autosomal recessive complex spastic paraplegia ICD10:G11.4|Orphanet:209951|OMIM:611225|GARD:0004922|DOID:0110771|MESH:C567628|SCTID:732932004 owl:Class MONDO:0006551 biolink:NamedThing alopecia mucinosa A rare dermatologic disorder characterized by the accumulation of mucinous material in the hair follicles. In some cases it is associated with lymphoproliferative disorders, most often mycosis fungoides and Hodgkin lymphoma. tmpaxzxjjyw_mondo_relaxed.owl alopecia Mucinosa|hair follicle cutaneous focal mucinosis|alopecia mucinosa|cutaneous focal mucinosis of hair follicle|follicular mucinosis|alopecia mucinosis ICD10:L65.2|ICD9:704.09|PMID:24350019|EFO:1000701|MESH:D000507|DOID:9905|SCTID:27382006|NCIT:C82859|UMLS:C0002173 owl:Class MONDO:0016860 biolink:NamedThing familial adenomatous polyposis due to 5q22.2 microdeletion tmpaxzxjjyw_mondo_relaxed.owl familial adenomatous polyposis due to monosomy 5q22.2|familial adenomatous polyposis due to del(5)(q22.2)|familial polyposis coli due to monosomy 5q22.2|FAP due to monosomy 5q22.2|colorectal adenomatous polyposis due to monosomy 5q22.2 Orphanet:261584|ICD10:D12.6|UMLS:CN202203 owl:Class MONDO:0021055 biolink:NamedThing classic familial adenomatous polyposis Familial adenomatous polyposis (FAP) is characterized by the development of hundreds to thousands of adenomas in the rectum and colon during the second decade of life. tmpaxzxjjyw_mondo_relaxed.owl familial polyposis|familial adenomatous polyposis syndrome|familial adenomatous polyposis|classic familial adenomatous polyposis|familial polyposis coli|adenomatous polyposis coli|familial adenomatous polyposis coli|hereditary polyposis coli|colorectal adenomatous polyposis|familial adenomatous polyposis of the colon|polyposis coli|FPC|hereditary adenomatous polyposis coli|classic FAP|FAP|APC - adenomatous polyposis coli|familial multiple polyposis|adenomatous polyposis of the colon GARD:0006408|UMLS:C2713443|ICD10:D12.6|Orphanet:733|ICDO:8220/0|SCTID:72900001|OMIM:175100|UMLS:CN240755|DOID:0050424|OMIMPS:175100|OMIM:608456|MedDRA:10056981|UMLS:C0032580|NCIT:C3339 owl:Class MONDO:0005023 biolink:NamedThing ductal breast carcinoma in situ A carcinoma entirely confined to the mammary ducts. It is also known as DCIS. There is no evidence of invasion of the basement membrane. Currently, it is classified into three categories: High-grade DCIS, intermediate-grade DCIS and low-grade DCIS. In this classification the DCIS grade is defined by a combination of nuclear grade, architectural growth pattern and presence of necrosis. The size of the lesion as well as the grade and the clearance margins play a major role in dictating the most appropriate therapy for DCIS. tmpaxzxjjyw_mondo_relaxed.owl non-invasive ductal carcinoma of the breast|non-infiltrating intraductal carcinoma|non-infiltrating ductal breast carcinoma|non-infiltrating ductal carcinoma of the breast|non-invasive intraductal adenocarcinoma of the breast|non-infiltrating intraductal adenocarcinoma of the breast|non-infiltrating ductal adenocarcinoma of breast|ductal breast carcinoma in situ|carcinoma in situ of mammary duct|non-invasive intraductal breast adenocarcinoma|intraductal breast carcinoma|ductal carcinoma in situ of the breast|non-invasive ductal breast carcinoma|non-invasive intraductal adenocarcinoma of breast|breast ductal carcinoma in situ|non-infiltrating ductal breast adenocarcinoma|non-infiltrating ductal carcinoma of breast|non-invasive ductal adenocarcinoma of the breast|intraductal carcinoma of breast|mammary duct carcinoma in situ|ductal carcinoma in situ|non-invasive ductal carcinoma of breast|intraductal carcinoma of the breast|non-infiltrating intraductal breast adenocarcinoma|non-infiltrating ductal adenocarcinoma of the breast|mammary duct in situ carcinoma|ductal carcinoma in situ of breast|DCIS|non-infiltrating intraductal adenocarcinoma of breast|ductal carcinoma in situ (DCIS)|intraductal carcinoma|stage 0 mammary duct carcinoma|non-invasive ductal adenocarcinoma of breast|non-invasive ductal breast adenocarcinoma|non-infiltrating intraductal adenocarcinoma ICDO:8500/2|DOID:8791|ONCOTREE:DCIS|DOID:0060074|SCTID:189336000|EFO:0000432|ICD9:233.0|NCIT:C2924|MESH:D002285 owl:Class MONDO:0005590 biolink:NamedThing breast ductal adenocarcinoma A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive ductal carcinoma. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist. tmpaxzxjjyw_mondo_relaxed.owl duct carcinoma|ductal carcinoma of the breast|ductal carcinoma of breast|ductal adenocarcinoma|duct adenocarcinoma|ductal carcinoma|ductal breast adenocarcinoma|breast ductal carcinoma|mammary duct adenocarcinoma|ductal breast carcinoma NCIT:C4017|EFO:0006318|MESH:D018270|DOID:3007 owl:Class MONDO:0019562 biolink:NamedThing localized scleroderma Localized scleroderma is the skin localized form of scleroderma characterized by fibrosis of the skin causing cutaneous plaques or strips. tmpaxzxjjyw_mondo_relaxed.owl localized fibrosing scleroderma|localised morphoea|morphea|circumscribed scleroderma|localized morphea|localized scleroderma|localized scleroderma (disorder) [ambiguous]|Scleroderma, circumscribed or localized|Scleroderma, localized NCIT:C72069|Orphanet:90289|GARD:0007058|MESH:D012594|ICD10:L94.0|SCTID:201048007|ICD9:701.0|UMLS:C0036420|DOID:8472|MedDRA:10039712 owl:Class MONDO:0019340 biolink:NamedThing scleroderma Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). tmpaxzxjjyw_mondo_relaxed.owl Scleroderma|scleroderma|dermatosclerosis|scleroderma (disease) scleroderma (disease) HP:0100324|DOID:419|Orphanet:801|NCIT:C26746|MESH:D012594|SCTID:89155008|MedDRA:10039710 owl:Class MONDO:0011917 biolink:NamedThing focal segmental glomerulosclerosis 3, susceptibility to Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene. tmpaxzxjjyw_mondo_relaxed.owl CD2AP focal segmental glomerulosclerosis|focal segmental glomerulosclerosis caused by mutation in CD2AP|glomerulosclerosis, focal segmental, 3, susceptibility to|focal segmental glomerulosclerosis 3, susceptibility to|susceptibility to focal segmental glomerulosclerosis 3|FSGS3 OMIM:607832 owl:Class MONDO:0012327 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 46 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 18p11.32-p11.31. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive deafness 46|deafness, autosomal recessive 46|DFNB46|autosomal recessive nonsyndromic deafness type 46|autosomal recessive nonsyndromic deafness 46 ICD10:H90.3|OMIM:609647|DOID:0110503|UMLS:C1864815|MESH:C566459 owl:Class MONDO:0003135 biolink:NamedThing focal embolic glomerulonephritis Inflammation of a specific segment of glomeruli, which is associated with subacute bacterial endocarditis, and frequently produces microscopic hematuria without azotemia. tmpaxzxjjyw_mondo_relaxed.owl DOID:4779|NCIT:C35707|UMLS:C0238143 owl:Class UBERON:0010150 biolink:NamedThing duct of major vestibular gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006539 biolink:NamedThing diffuse lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue. It has been associated with several genetic disorders and different clinical conditions such as liver disease, excessive alcohol intake, adrenocortical steroid therapy, and antiretroviral therapy. tmpaxzxjjyw_mondo_relaxed.owl diffuse lipomatosis UMLS:C1333298|EFO:1000687|NCIT:C6504|DOID:3923 owl:Class MONDO:0010689 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 4 X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease with deafness and intellectual disability|NAMSD|axonal motor sensory neuropathy with deafness and mental retardation|neuropathy, axonal motor-sensory, with deafness and intellectual disability|neuropathy, axonal motor-sensory with deafness and mental retardation|CMTX 4|NADMR|Charcot-Marie-Tooth disease with deafness and mental retardation|X-linked Charcot-Marie-Tooth disease type 4|neuropathy, axonal motor-sensory with deafness and intellectual disability|axonal motor sensory neuropathy with deafness and intellectual disability|COWCK|Charcot-Marie-Tooth disease, X-linked recessive, 4|cowchock syndrome|CMT4X|Charcot-Marie-Tooth disease X-linked recessive type 4|CMTX4|neuropathy, axonal motor-sensory, with deafness and mental retardation OMIM:310490|Orphanet:101078|ICD10:G60.0|SCTID:763400005|DOID:0110212|GARD:0001240 owl:Class GO:0045582 biolink:NamedThing positive regulation of T cell differentiation Any process that activates or increases the frequency, rate or extent of T cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of T lymphocyte differentiation|positive regulation of T-lymphocyte differentiation|up-regulation of T cell differentiation|positive regulation of T-cell differentiation|up regulation of T cell differentiation|positive regulation of T cell development|stimulation of T cell differentiation|activation of T cell differentiation|upregulation of T cell differentiation owl:Class GO:0045621 biolink:NamedThing positive regulation of lymphocyte differentiation Any process that activates or increases the frequency, rate or extent of lymphocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of lymphocyte development|stimulation of lymphocyte differentiation|up-regulation of lymphocyte differentiation|up regulation of lymphocyte differentiation|upregulation of lymphocyte differentiation|activation of lymphocyte differentiation owl:Class ENVO:01000997 biolink:NamedThing environmental system determined by a quality An environmental system which is determined by materials bearing roughly homogeneous qualities. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009031 biolink:NamedThing craniodiaphyseal dysplasia Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity. tmpaxzxjjyw_mondo_relaxed.owl CDD|craniodiaphyseal dysplasia|Lionitis DOID:0080032|MESH:C562940|OMIM:122860|Orphanet:1513|NCIT:C131429|ICD10:M85.2|GARD:0001567|ICD9:756.59|OMIM:218300|UMLS:C0410539|SCTID:205506004 https://rarediseases.info.nih.gov/diseases/1567/craniodiaphyseal-dysplasia owl:Class MONDO:0015465 biolink:NamedThing craniometaphyseal dysplasia Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones. tmpaxzxjjyw_mondo_relaxed.owl OMIM:614378|OMIM:218300|SCTID:36601008|ICD10:Q78.8|OMIM:123000|DOID:0080033|Orphanet:1522|OMIM:122860|OMIM:218400|OMIMPS:123000|OMIM:614099|ICD9:756.89 owl:Class MONDO:0014341 biolink:NamedThing complex cortical dysplasia with other brain malformations 6 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene. tmpaxzxjjyw_mondo_relaxed.owl CDCBM6|CDCBM56|TUBB complex cortical dysplasia with other brain malformations|cortical dysplasia, Complex, with Other brain malformations type 6|complex cortical dysplasia with other brain malformations type 6|cortical dysplasia, complex, with other brain malformations 6|complex cortical dysplasia with other brain malformations caused by mutation in TUBB UMLS:C4014283|DOID:0090136|OMIM:615771 owl:Class GO:0010876 biolink:NamedThing lipid localization Any process in which a lipid is transported to, or maintained in, a specific location. tmpaxzxjjyw_mondo_relaxed.owl lipid localisation owl:Class GO:0033036 biolink:NamedThing macromolecule localization Any process in which a macromolecule is transported to, or maintained in, a specific location. tmpaxzxjjyw_mondo_relaxed.owl macromolecule localisation owl:Class MONDO:0021742 biolink:NamedThing puerperal infection An infection occurring in puerperium, the period of 6-8 weeks after giving birth. tmpaxzxjjyw_mondo_relaxed.owl Infections, Puerperal|Puerperal Infections|Puerperal Infection|Infection, Puerperal UMLS:C0034041|EFO:1001407|MESH:D011645 owl:Class MONDO:0044013 biolink:NamedThing puerperal disorder Disorders or diseases associated with puerperium, the six-to-eight-week period immediately after parturition in humans. tmpaxzxjjyw_mondo_relaxed.owl disorders, puerperal|disorder, puerperal|disorder of puerperium|puerperal disorder|postpartum disorder MESH:D011644|SCTID:362973001|UMLS:C0034040 owl:Class HP:0011339 biolink:NamedThing Abnormality of upper lip vermillion An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. tmpaxzxjjyw_mondo_relaxed.owl Anomaly of the upper lip vermillion|Deformity of the upper lip vermillion|Malformation of the upper lip vermillion|Abnormality of the red part of the upper lip UMLS:C4023406 peter 2012-02-26T01:32:28Z human_phenotype owl:Class HP:0000177 biolink:NamedThing Abnormality of upper lip An abnormality of the upper lip. tmpaxzxjjyw_mondo_relaxed.owl Malformation of the upper lip|Abnormality of upper lip|Anomaly of the upper lip|Deformity of the upper lip UMLS:C4025884 human_phenotype owl:Class HGNC:15954 biolink:NamedThing TOE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012715 biolink:NamedThing migraine with or without aura, susceptibility to, 12 tmpaxzxjjyw_mondo_relaxed.owl migraine with or without aura, susceptibility to, 12|MGR12 OMIM:611706 owl:Class MONDO:0100246 biolink:NamedThing migraine with or without aura, susceptibility to An inherited susceptibility or predisposition to developing migraines with or without aura. tmpaxzxjjyw_mondo_relaxed.owl migraine with or without aura, susceptibility|migraine with or without aura, susceptibility to OMIM:613656|OMIMPS:157300|OMIM:157300 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0005913 biolink:NamedThing phlebotomus fever Influenza-like febrile viral disease caused by several members of the bunyaviridae family and transmitted mostly by the bloodsucking sandfly Phlebotomus papatasii. tmpaxzxjjyw_mondo_relaxed.owl Sandfly-borne arboviral fever|pappataci fever|Sandfly-borne Bunyavirus fever|Sandfly-borne phleboviral disease|Sandfly fever UMLS:C0030372|ICD9:066.0|SCTID:407476002|DOID:11360|MESH:D010217|EFO:0007437|ICD10:A93.1 owl:Class CL:0002109 biolink:NamedThing B220-positive CD38-positive naive B cell A B220-positive CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-positive, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery. tmpaxzxjjyw_mondo_relaxed.owl CD38+B220+ naive B-cell|B220-positive CD38-positive naive B-cell|B220+CD38+ naive B-lymphocyte|B220+CD38+ naive B lymphocyte|CD38+B220+ naive B-lymphocyte|B220-positive CD38-positive naive B lymphocyte|B220+CD38+ naive B cell|CD38+B220+ naive B lymphocyte|CD38+B220+ naive B cell|B220-positive CD38-positive naive B-lymphocyte|B220+CD38+ naive B-cell cell owl:Class CL:0002101 biolink:NamedThing CD38-positive naive B cell A CD38-positive naive B cell is a mature B cell that has the phenotype CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, and that has not yet been activated by antigen in the periphery. tmpaxzxjjyw_mondo_relaxed.owl CD38-positive naive B lymphocyte|CD38-positive naive B-lymphocyte|CD38+ naive B-lymphocyte|CD38+ naive B cell|CD38+ naive B lymphocyte|CD38+ naive B-cell|CD38-positive naive B-cell cell owl:Class HGNC:21050 biolink:NamedThing CDKAL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009185 biolink:NamedThing ribonucleoside diphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside diphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with diphosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl ribonucleoside diphosphate metabolism owl:Class GO:0009132 biolink:NamedThing nucleoside diphosphate metabolic process The chemical reactions and pathways involving a nucleoside diphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with diphosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl nucleoside diphosphate metabolism owl:Class MONDO:0017651 biolink:NamedThing primary myoclonus tmpaxzxjjyw_mondo_relaxed.owl Orphanet:306750 owl:Class MONDO:0014579 biolink:NamedThing Senior-Loken syndrome 8 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene. tmpaxzxjjyw_mondo_relaxed.owl Senior-Loken syndrome type 8|SLSN8|WDR19 Senior-Loken syndrome|Senior-Loken syndrome caused by mutation in WDR19|SENIOR-Loken syndrome 8|Senior-Loken syndrome 8 UMLS:C4225376|OMIM:616307|Orphanet:3156 owl:Class MONDO:0030015 biolink:NamedThing bone marrow failure syndrome 6 tmpaxzxjjyw_mondo_relaxed.owl bone marrow failure syndrome 6|BMFS6|BONE MARROW FAILURE SYNDROME 6 OMIM:618849 owl:Class MONDO:0001537 biolink:NamedThing tuberculous epididymitis An urogenital tuberculosis involving a pathogenic inflammatory response in the epididymis. tmpaxzxjjyw_mondo_relaxed.owl ICD9:016.46|SCTID:83652003|ICD9:016.42|DOID:1251|ICD9:016.4|ICD9:016.40|UMLS:C0152814|ICD9:016.41 owl:Class MONDO:0004779 biolink:NamedThing epididymitis Inflammation of the epididymis. Its clinical features include enlarged epididymis, a swollen scrotum; pain; pyuria; and fever. It is usually related to infections in the urinary tract, which likely spread to the epididymis through either the vas deferens or the lymphatics of the spermatic cord. tmpaxzxjjyw_mondo_relaxed.owl epididymitis|epididymis|epididymal|epididymitis (disease) epididymitis (disease) DOID:9402|NCIT:C12328|UMLS:C0014534|HP:0000031|ICD10:N45.1|SCTID:31070006|MESH:D004823 owl:Class MONDO:0021932 biolink:NamedThing infection by Trypanosoma gambiense Trypanosomiasis caused by infection by Trypanosoma brucei gambiense. tmpaxzxjjyw_mondo_relaxed.owl Gambiense trypanosomiasis infection|Infection by Trypanosoma gambiense|Gambian trypanosomiasis|Gambian sleeping sickness|Infection caused by Trypanosoma gambiense|chronic sleeping sickness NCIT:C35084|UMLS:C0041232|SCTID:75809006|GARD:0008540|ICD9:086.3 owl:Class NCBITaxon:43786 biolink:NamedThing Culicomorpha tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7148 biolink:NamedThing Nematocera tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001948 biolink:NamedThing regional part of spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000073 biolink:NamedThing regional part of nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03301977 biolink:NamedThing beverage food product A liquid prepared for consumption, or a product that can be combined with water or milk to make one. tmpaxzxjjyw_mondo_relaxed.owl 2019-09-12 00:00:00 http://langual.org Damion Dooley owl:Class HGNC:4586 biolink:NamedThing GRIN2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001419 biolink:NamedThing skin of limb tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009341 biolink:NamedThing Mowat-Wilson syndrome Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations. tmpaxzxjjyw_mondo_relaxed.owl Hirschsprung disease intellectual disability syndrome|intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease|MOWS|Mowat-Wilson syndrome|Hirschsprung disease-intellectual disability syndrome|Hirschsprung disease-mental retardation syndrome|mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease|microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease|microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease|microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease|Hirschsprung disease mental retardation syndrome|microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease MESH:C536990|SCTID:703535000|ICD10:Q43.1|Orphanet:2152|OMIM:235730|GARD:0009673|ICD9:759.89|NCIT:C74999|DOID:0060485|UMLS:C1856113 https://rarediseases.info.nih.gov/diseases/9673/mowat-wilson-syndrome owl:Class MONDO:0032723 biolink:NamedThing immunodeficiency 60 tmpaxzxjjyw_mondo_relaxed.owl IMMUNODEFICIENCY 60|Immunodeficiency and Autoimmunity, Bach2-Related|IMD60 OMIM:618394 owl:Class UBERON:0005998 biolink:NamedThing tricuspid valve cusp tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005484 biolink:NamedThing tricuspid valve leaflet tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0033046 biolink:NamedThing negative regulation of sister chromatid segregation Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010948 biolink:NamedThing negative regulation of cell cycle process Any process that decreases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003589 biolink:NamedThing hindlimb connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003405 biolink:NamedThing adult central nervous system germ cell tumor A germ cell tumor of the central nervous system occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl adult CNS germ cell tumor|germ cell neoplasm of the adult central nervous system|central nervous system germ cell tumor of adults|central nervous system germ cell tumor|central nervous system adult germ cell tumor|adult central nervous system germ cell neoplasm|germ cell neoplasm of adult CNS|germ cell tumor of the adult central nervous system|adult central nervous system germ cell tumor|germ cell neoplasm of adult central nervous system|germ cell tumor of the adult CNS|germ cell tumor of adult central nervous system|germ cell neoplasm of the adult CNS|germ cell tumor of adult CNS|adult CNS germ cell neoplasm NCIT:C6285|DOID:5349|UMLS:C0280796 owl:Class GO:0030193 biolink:NamedThing regulation of blood coagulation Any process that modulates the frequency, rate or extent of blood coagulation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0061041 biolink:NamedThing regulation of wound healing Any process that modulates the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045864 biolink:NamedThing positive regulation of pteridine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pteridine. tmpaxzxjjyw_mondo_relaxed.owl up regulation of pteridine metabolic process|upregulation of pteridine metabolic process|up-regulation of pteridine metabolic process|activation of pteridine metabolic process|stimulation of pteridine metabolic process|positive regulation of pteridine metabolism owl:Class CL:0000083 biolink:NamedThing epithelial cell of pancreas An epithelial cell of the pancreas. tmpaxzxjjyw_mondo_relaxed.owl pancreas epithelial cell|pancreatic epithelial cell BTO:0000028 cell owl:Class GO:0048845 biolink:NamedThing venous blood vessel morphogenesis The process in which the anatomical structures of venous blood vessels are generated and organized. Veins are blood vessels that transport blood from the body and its organs to the heart. tmpaxzxjjyw_mondo_relaxed.owl venous morphogenesis|vein morphogenesis owl:Class GO:0048514 biolink:NamedThing blood vessel morphogenesis The process in which the anatomical structures of blood vessels are generated and organized. The blood vessel is the vasculature carrying blood. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021445 biolink:NamedThing benign neoplasm of oral cavity A benign neoplasm that involves the oral cavity. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of the oral cavity|benign tumor of oral cavity|benign mouth tumor|benign neoplasm of the oral cavity|oral cavity benign neoplasm|benign oral cavity tumor|benign tumor of mouth|benign oral cavity neoplasm|benign neoplasm of the mouth|benign tumor of the mouth|benign neoplasm of mouth|benign mouth neoplasm ICD9:210.4|SCTID:419645003|UMLS:C0347197|NCIT:C7607 owl:Class MONDO:0021245 biolink:NamedThing oral cavity neoplasm A neoplasm (disease) that involves the oral cavity. tmpaxzxjjyw_mondo_relaxed.owl mouth tumor|neoplasm of oral cavity|mouth neoplasm|tumor of mouth|tumor of oral cavity|oral cavity neoplasm (disease)|oral cavity tumor SCTID:235075007|UMLS:C0026640|EFO:0003868|NCIT:C7606 owl:Class MONDO:0008845 biolink:NamedThing atonic-astatic syndrome of Foerster tmpaxzxjjyw_mondo_relaxed.owl atonic-astatic syndrome of Foerster UMLS:C1859594|OMIM:209100|MESH:C565926 owl:Class MONDO:0008684 biolink:NamedThing Wolf-Hirschhorn syndrome Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. tmpaxzxjjyw_mondo_relaxed.owl WOLF-Hirschhorn syndrome|distal deletion 4p|Wolf syndrome|4p deletion syndrome|distal monosomy 4p|4p- syndrome|WHS|Wolf-Hirschhorn syndrome|telomeric deletion 4p|microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation|Pitt syndrome|chromosome 4p16.3 deletion syndrome|chromosome 4p syndrome|chromosome 4P16.3 deletion syndrome|Wittwer syndrome|Pitt-Rogers-Danks syndrome|4p syndrome MedDRA:10050361|UMLS:C0796117|UMLS:C1956097|UMLS:CN207113|DOID:0050460|ICD10:Q93.3|UMLS:C0796202|Orphanet:280|MESH:D054877|NCIT:C35528|GARD:0007896|SCTID:718226002|OMIM:194190 https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome owl:Class GO:0002461 biolink:NamedThing tolerance induction dependent upon immune response Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation. tmpaxzxjjyw_mondo_relaxed.owl immune response-dependent tolerance induction owl:Class GO:0002460 biolink:NamedThing adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6932 biolink:NamedThing MC4R tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5012 biolink:NamedThing HMMR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006317 biolink:NamedThing neurothekeoma A benign neoplasm arising from nerve sheaths. It is characterized by the presence of a myxoid stroma. tmpaxzxjjyw_mondo_relaxed.owl neurothekeoma|nerve sheath Myxoma UMLS:C0206730|MESH:D018321|ICDO:9562/0|NCIT:C7018|EFO:1000394 owl:Class MONDO:0002547 biolink:NamedThing nerve sheath neoplasm A benign or malignant neoplasm arising from the perineural cells in the sheaths surrounding the nerves. Representative examples include neurofibroma, schwannoma, and malignant peripheral nerve sheath tumor. tmpaxzxjjyw_mondo_relaxed.owl nerve sheath tumor|tumor of nerve sheath|nerve sheath tumour|nerve sheath neoplasm|neoplasm of the nerve sheath|neoplasm of nerve sheath|peripheral nerve sheath neoplasm MESH:D018317|DOID:3193|ONCOTREE:NST|NCIT:C4972 owl:Class HP:0000765 biolink:NamedThing Abnormal thorax morphology Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). tmpaxzxjjyw_mondo_relaxed.owl Structural abnormality of the chest wall|Abnormality of the thorax|Abnormality of the chest UMLS:C4021797 HP:0100655 human_phenotype owl:Class MONDO:0017410 biolink:NamedThing porencephaly Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric grey matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly. tmpaxzxjjyw_mondo_relaxed.owl MESH:D065708|Orphanet:2940|OMIM:175780|DOID:0060263|MedDRA:10036172|GARD:0007430|ICD10:Q04.6|HP:0002132 https://rarediseases.info.nih.gov/diseases/7430/porencephaly owl:Class MONDO:0015655 biolink:NamedThing cerebral malformation with epilepsy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:166478 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: cerebral malformation' MONDO_0016054 owl:Class MONDO:0018639 biolink:NamedThing caudal regression-sirenomelia spectrum Caudal regression-sirenomelia spectrum is a group of rare genetic developmental defect during embryogenesis disorders characterized by varying degrees of caudal abdomen, pelvic, renal, anorectal, urogenital and/or lumbosacral spine malformations, with or without lower limb fusion. Phenotype is highly variable ranging from minor forms with isolated coccygeal agenesis to severe forms presenting with a single rudimentary limb. Central nervous system anomalies have also been reported. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:444941 owl:Class UBERON:0003267 biolink:NamedThing tooth of upper jaw tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001290 biolink:NamedThing allergic cutaneous vasculitis Inflammation of the small vessels of the skin that is mediated by the immune system. tmpaxzxjjyw_mondo_relaxed.owl allergic cutaneous angiitis|autoimmune hypersensitivity angiitis DOID:11450|NCIT:C35119 owl:Class MONDO:0008504 biolink:NamedThing supravalvular aortic stenosis SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis. tmpaxzxjjyw_mondo_relaxed.owl supravalvular aortic stenosis|aortic supravalvular stenosis|supravalvular aortic stenosis (disease)|supravalvar aortic stenosis, Eisenberg type|SVAS|supra-valvular aortic stenosis supravalvular aortic stenosis (disease) OMIM:185500|NCIT:C85176|GARD:0000743|DOID:1929|SCTID:268185002|HP:0004381|ICD10:Q25.3|Orphanet:3193|UMLS:C0003499|MedDRA:10042598 owl:Class MONDO:0017131 biolink:NamedThing genetic cardiac anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:271853 owl:Class UBERON:0002786 biolink:NamedThing root of abducens nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009210 biolink:NamedThing congenital factor V deficiency Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms. tmpaxzxjjyw_mondo_relaxed.owl Parahemophilia|factor 5 deficiency|Owren Parahemophilia|Owren disease|factor V deficiency|deficiency, labile|hereditary factor V deficiency|congenital factor V deficiency|hereditary Factor V deficiency|Proaccelerin deficiency|labile factor deficiency|labile Factor deficiency|hereditary hypoproaccelerinaemia GARD:0002237|Orphanet:326|OMIM:227400|DOID:2216|SCTID:88776002|MESH:D005166|MedDRA:10048930|UMLS:C0015499|NCIT:C98938|ICD10:D68.2 https://rarediseases.info.nih.gov/diseases/2237/factor-v-deficiency owl:Class MONDO:0020586 biolink:NamedThing factor V deficiency A coagulation disorder characterized by the partial or complete absence of factor V activity in the blood. tmpaxzxjjyw_mondo_relaxed.owl factor V deficiency SCTID:4320005|NCIT:C131738 owl:Class ECTO:0000530 biolink:NamedThing exposure to pesticide An exposure to pesticide. tmpaxzxjjyw_mondo_relaxed.owl exposure to pesticide owl:Class MONDO:0017317 biolink:NamedThing phakomatosis pigmentokeratotica Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies. tmpaxzxjjyw_mondo_relaxed.owl organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies|Phacomatosis pigmentokeratotica ICD10:Q85.8|MESH:C537893|Orphanet:2874|GARD:0004311|SCTID:723455009|UMLS:C2931658 owl:Class GO:0015850 biolink:NamedThing organic hydroxy compound transport The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. tmpaxzxjjyw_mondo_relaxed.owl organic alcohol transport owl:Class UBERON:0020550 biolink:NamedThing auricular blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008520 biolink:NamedThing brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported. tmpaxzxjjyw_mondo_relaxed.owl carpal synostosis with dysplastic elbow joints and brachydactyly|Liebenberg syndrome|brachydactyly with joint dysplasia|brachydactyly with Joint dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly|brachydactyly elbow wrist dysplasia|LIEBENBERG syndrome|LBNBG|brachydactyly-joint dysplasia syndrome UMLS:C1861313|OMIM:186550|Orphanet:1275|ICD10:Q73.8|SCTID:764437006|GARD:0000966|MESH:C566090 https://rarediseases.info.nih.gov/diseases/966/brachydactyly-elbow-wrist-dysplasia owl:Class MONDO:0021474 biolink:NamedThing benign neoplasm of ear A benign neoplasm that involves the ear. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of the Ear|benign Ear neoplasm|aural neoplasms, benign|ear benign neoplasm|benign tumor of Ear|benign neoplasm of the Ear|benign Ear tumor SCTID:255181009|UMLS:C0347354|NCIT:C8417 owl:Class MONDO:0021233 biolink:NamedThing ear neoplasm A neoplasm (disease) that involves the ear. tmpaxzxjjyw_mondo_relaxed.owl tumor of ear|tumor of the Ear|ear neoplasm (disease)|Ear neoplasms|neoplasm of Ear|neoplasm of the Ear|neoplasm of ear|tumor of Ear|ear tumor|Ear tumor NCIT:C3000 owl:Class HGNC:17358 biolink:NamedThing TPK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018805 biolink:NamedThing bile duct cyst Cystic dilatation of the hepatic duct or bile duct. tmpaxzxjjyw_mondo_relaxed.owl congenital cystic dilatation of the biliary tract|bile duct cysts|choledochocele|congenital choledochal cyst|choledochal cyst|choledochal cysts SCTID:398197009|MESH:D015529|DOID:899|OMIM:603003|ICD10:Q44.4|SCTID:397868007|Orphanet:480501|GARD:0009229|ICD9:751.69|NCIT:C2943|ICD9:576.8 owl:Class MONDO:0002887 biolink:NamedThing bile duct disorder A disease involving the bile duct. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of bile duct|disorder of bile duct|bile duct disease|bile duct disease or disorder|disease of bile duct|bile duct disorder MESH:D001649|NCIT:C96716|UMLS:C0005395|DOID:4138|SCTID:118926004 owl:Class MONDO:0020793 biolink:NamedThing oculopharyngodistal myopathy 1 tmpaxzxjjyw_mondo_relaxed.owl oculopharyngodistal myopathy 1|oculopharyngodistal myopathy|OPDM1|faciooculolaryngopharyngeal myopathy with distal and respiratory involvement OMIM:164310 owl:Class HGNC:12033 biolink:NamedThing TRAF3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11598 biolink:NamedThing TBX20 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009384 biolink:NamedThing Leydig cell hypoplasia, type 1 Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene. tmpaxzxjjyw_mondo_relaxed.owl Leydig cell hypoplasia caused by mutation in LHCGR|hypergonadotropic hypogonadism, Male, due to Lhcgr defect|Leydig cell hypoplasia with male pseudohermaphroditism|LHCGR Leydig cell hypoplasia|Leydig cell hypoplasia, partial|Leydig cell Hypoplasia, type 2|luteinizing hormone resistance, female|Leydig cell agenesis|Leydig cell hypoplasia, complete|Leydig cell hypoplasia, type I Orphanet:96266|Orphanet:96265|OMIM:238320|Orphanet:755 owl:Class GO:0035227 biolink:NamedThing regulation of glutamate-cysteine ligase activity Any process that modulates the activity of glutamate-cysteine ligase. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000468 biolink:NamedThing regulation of peroxidase activity Any process that modulates the frequency, rate or extent of peroxidase activity. tmpaxzxjjyw_mondo_relaxed.owl regulation of oxyperoxidase activity|regulation of peroxidase reaction|regulation of donor:hydrogen-peroxide oxidoreductase activity owl:Class HGNC:6188 biolink:NamedThing JAG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011578 biolink:NamedThing familial papillary thyroid carcinoma with renal papillary neoplasia Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC). tmpaxzxjjyw_mondo_relaxed.owl Ptcprn|Prn1|thyroid carcinoma, papillary, with papillary renal neoplasia|ptc-RCC ICD10:C64|MESH:C565310|OMIM:605642|ICD10:C73|SCTID:717734005|UMLS:C1854104|Orphanet:97290 Editor note: check MONDO:0000201 thyroid cancer, nonmedullary owl:Class MONDO:0009311 biolink:NamedThing grouped pigmentation of the retina tmpaxzxjjyw_mondo_relaxed.owl grouped pigmentation of the macula|grouped pigmentation of retinal pigment epithelium|grouped pigmentation of the retina MESH:C565530|OMIM:233800|UMLS:C1856244 owl:Class MONDO:0043112 biolink:NamedThing lachiewicz sibley syndrome tmpaxzxjjyw_mondo_relaxed.owl hereditary renal disease and preauricular pits MESH:C538131|UMLS:C2931742|GARD:0003157 owl:Class MONDO:0006962 biolink:NamedThing sebaceous adenocarcinoma An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize. tmpaxzxjjyw_mondo_relaxed.owl malignant sebaceous tumor|carcinoma of the sebaceous gland|sebaceous gland carcinoma|sebaceous gland adenocarcinoma|sebaceous cancer|Seba|adenocarcinoma, sebaceous, malignant|carcinoma of sebaceous gland|sebaceous carcinoma|adenocarcinoma of the sebaceous gland ONCOTREE:SEBA|MESH:D018266|DOID:4839|UMLS:C0206684|SCTID:307599002|NCIT:C40310|EFO:1001171|ICD10:C44|NCIT:C8409|UMLS:C1382026|ICDO:8410/3|DOID:4840 owl:Class MONDO:0037735 biolink:NamedThing sebaceous gland cancer A cancer that involves the sebaceous gland. tmpaxzxjjyw_mondo_relaxed.owl malignant sebaceous gland tumor|malignant sebaceous gland neoplasm|malignant tumor of sebaceous gland|cancer of sebaceous gland|malignant neoplasm of sebaceous gland|malignant tumor of the sebaceous gland|malignant neoplasm of the sebaceous gland|malignant sebaceous tumor|malignant sebaceous neoplasm NCIT:C8409|UMLS:C1382026 owl:Class MONDO:0001408 biolink:NamedThing ischemic neuropathy Neuropathy that is caused by inadequate blood supply. tmpaxzxjjyw_mondo_relaxed.owl ischemic peripheral neuropathy UMLS:C0238309|ICD9:356.9|NCIT:C27025|SCTID:129611009|DOID:1195 owl:Class MONDO:0002481 biolink:NamedThing ovarian neuroendocrine neoplasm An epithelial neoplasm with neuroendocrine differentiation that arises from the ovary. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma. tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine tumor of ovary|neuroendocrine neoplasm of the ovary|ovary neuroendocrine tumor|ovary neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of ovary|ovary neuroendocrine neoplasm|ovary NET|ovarian neuroendocrine neoplasm NCIT:C5237|UMLS:C1335172|DOID:3002 owl:Class MONDO:0004580 biolink:NamedThing retinal degeneration Degeneration of the retina. tmpaxzxjjyw_mondo_relaxed.owl degeneration of retina|retina degeneration|retina, Degeneration Of SCTID:95695004|DOID:8466|MESH:D012162|NCIT:C34979 owl:Class MONDO:0012197 biolink:NamedThing idiopathic aplastic anemia Aplastic anemia without a known cause. tmpaxzxjjyw_mondo_relaxed.owl aplastic Anemia, susceptibility to|idiopathic aplastic aplasia|secondary aplastic anemia|aplastic anemia|aplastic anemia idiopathic|idiopathic bone marrow failure|anemia aplastic OMIM:614742|GARD:0005836|MESH:C538494|NCIT:C61230|OMIM:614743|ICD10:D61.0|SCTID:191256002|Orphanet:88|UMLS:C0348890|OMIM:609135|ICD10:D61.3 owl:Class MONDO:0700007 biolink:NamedThing idiopathic disease A disease or disorder for which the cause is of uncertain or unknown. tmpaxzxjjyw_mondo_relaxed.owl idiopathic disorder http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/3169 owl:Class HGNC:10683 biolink:NamedThing SDHD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014041 biolink:NamedThing autism, susceptibility to, 19 tmpaxzxjjyw_mondo_relaxed.owl AUTS19|autism, susceptibility to, type 19|autism, susceptibility to, 19|susceptibility to autism 19 OMIM:615091 Not listed in the OMIM series but the page directs you to 209850 for the full details. owl:Class MONDO:0007486 biolink:NamedThing hereditary benign intraepithelial dyskeratosis A rare genetic disorder with an autosomal dominant pattern of inheritance with variable penetrance. It was initially described among Native Americans belonging to the Haliwa-Saponi tribe of northeastern North Carolina. It is caused by a duplication of chromosomal DNA at 4q35. Clinical signs present in early childhood and include asymptomatic plaques of the epibulbar conjunctivae and oral mucosa. Clinical progression of the plaques to malignancy has not been reported. tmpaxzxjjyw_mondo_relaxed.owl Witkop-Von Sallmann disease|HBID|Dkbi|dyskeratosis, hereditary benign intraepithelial|hereditary benign corneal intraepithelial dyskeratosis ICD10:Q82.8|NCIT:C3940|OMIM:127600|MESH:C562551|UMLS:C0265966|Orphanet:352657|SCTID:400014002 owl:Class MONDO:0020215 biolink:NamedThing syndromic corneal dystrophy A corneal dystrophy (disease) that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic corneal dystrophy (disease)|syndrome associated with corneal dystrophy (disease) Orphanet:98628|UMLS:CN227823 owl:Class NCBITaxon:37124 biolink:NamedThing Chikungunya virus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009094 biolink:NamedThing dermochondrocorneal dystrophy Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl DCCD|FranC'ois syndrome|François syndrome|Dermochondrocorneal dystrophy of François|Francois syndrome|dermochondrocorneal dystrophy OMIM:221800|ICD9:379.99|SCTID:254150007|MESH:C535375|Orphanet:79149|UMLS:C0432288|GARD:0001815 owl:Class MONDO:0003477 biolink:NamedThing brain stem ependymoma An ependymoma that arises from the brain stem. tmpaxzxjjyw_mondo_relaxed.owl ependymoma of the brainstem|ependymoma of brainstem|brain stem ependymoma|ependymoma of brain stem|ependymoma of the brain stem|brainstem ependymoma UMLS:C1332609|DOID:5508|NCIT:C5098 owl:Class NBO:0000073 biolink:NamedThing chewing The act of repeated grinding, tearing, and or crushing with teeth or jaws [NBO:SMAC] tmpaxzxjjyw_mondo_relaxed.owl gnaw|mastication|chew owl:Class NBO:0000747 biolink:NamedThing jaw movement tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001730 biolink:NamedThing urethral syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156279|SCTID:31273004|ICD10:N34.3|ICD9:597.81|DOID:13498 owl:Class MONDO:0004184 biolink:NamedThing urethral disorder A disease involving the urethra. tmpaxzxjjyw_mondo_relaxed.owl urethra disorder|urethra disease|disease or disorder of urethra|disease of urethra|urethra disease or disorder|disorder of urethra UMLS:C0041969|SCTID:4985009|ICD10:N36.9|DOID:732|NCIT:C26903|MESH:D014522 owl:Class MONDO:0001895 biolink:NamedThing acute retrobulbar neuritis Acute form of retrobulbar neuritis. tmpaxzxjjyw_mondo_relaxed.owl retrobulbar neuritis (acute)|retrobulbar neuritis, acute DOID:14155|SCTID:51604006|UMLS:C0155301|ICD9:377.32 owl:Class MONDO:0024335 biolink:NamedThing retrobulbar neuritis tmpaxzxjjyw_mondo_relaxed.owl SCTID:230507009 owl:Class MONDO:0000481 biolink:NamedThing cervical dystonia Cervical dystonia is a neurological condition characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head (dystonia).Most commonly, the head turns to one side or the other.Tilting sideways, or to the back or front may also occur.The turning or tilting movements may be accompanied by shaking movement (tremor) and/or soreness of the muscles of the neck and shoulders.Cervical dystonia can occur at any age, but most cases occur in middle age. It often begins slowly and usually reaches a plateau over a few months or years. The cause of cervical dystonia is often unknown. In some cases there is a family history. Several genes have been associated with cervical dystonia, including GNAL, THAP1, CIZ1, and ANO3. Other cases may be linked to an underlying disease (e.g. Parkinson disease), neck trauma, or certain medications. Treatment may include local injections of botulinum toxin, pain medications, benzodiazepines (anti-anxiety medications), anticholinergics,physical therapy, or surgery. tmpaxzxjjyw_mondo_relaxed.owl spasmodic torticollis DOID:0050840|NCIT:C85072|GARD:0010668|ICD9:333.83|SCTID:74333002|Orphanet:93962 https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia owl:Class MONDO:0016845 biolink:NamedThing 21q22.11q22.12 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl Del(21)(q22.11q22.12)|monosomy 21q22.11q22.12|monosomy 21q22.11-q22.12|21q22.11-q22.12 microdeletion syndrome ICD10:Q93.5|UMLS:CN202185|Orphanet:261323 owl:Class MONDO:0016335 biolink:NamedThing mitochondrial disease with dilated cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:217613|UMLS:CN201166 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class UBERON:0003329 biolink:NamedThing submucosa of anal canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054731 biolink:NamedThing spermatogenic failure 27 tmpaxzxjjyw_mondo_relaxed.owl SPGF27|spermatogenic failure 27 OMIM:617965 owl:Class UBERON:0012177 biolink:NamedThing skin apocrine gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019319 biolink:NamedThing exocrine gland of integumental system tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0030824 biolink:NamedThing Mizuo phenomenon Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. tmpaxzxjjyw_mondo_relaxed.owl Mizuo-Nakamura phenomenon UMLS:C4280748 human_phenotype owl:Class HP:0001098 biolink:NamedThing Abnormal fundus morphology Any structural abnormality of the fundus of the eye. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the fundus UMLS:C4025804 human_phenotype owl:Class GO:0080090 biolink:NamedThing regulation of primary metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008087 biolink:NamedThing hereditary neuropathy with liability to pressure palsies Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities. tmpaxzxjjyw_mondo_relaxed.owl hereditary neuropathy with liability to pressure palsies|polyneuropathy, familial recurrent|neuropathy, hereditary, with liability to pressure palsies|HNPP|heterozygous microdeletion 17p11.2p12|Tomaculous neuropathy|familial recurrent polyneuropathy|hereditary neuropathy with liability to pressure palsy|tomaculous neuropathy|tulip-bulb digger's palsy|current pressure-sensitive neuropathy|potato-grubbing palsy DOID:0060843|ICD10:G60.0|GARD:0005221|OMIM:162500|MedDRA:10069382|Orphanet:640|MESH:C536965|SCTID:230558006 owl:Class HGNC:9051 biolink:NamedThing PLAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042626 biolink:NamedThing ATPase-coupled transmembrane transporter activity Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source. tmpaxzxjjyw_mondo_relaxed.owl ATPase activity, coupled to movement of substances|ATPase activity, coupled to transmembrane movement of substances|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances|P-P-bond-hydrolysis-driven transmembrane transporter activity|P-P-bond-hydrolysis-driven transporter|ATP-coupled transmembrane transporter activity|ATP-dependent transmembrane transporter activity owl:Class GO:0140657 biolink:NamedThing ATP-dependent activity A molecular function characterized by the coupling of ATP hydrolysis to other steps of a reaction mechanism to make the reaction energetically favorable, for example to catalyze a reaction or drive transport against a concentration gradient. tmpaxzxjjyw_mondo_relaxed.owl ATP hydrolysis-dependent activity|ATPase activity, coupled|ATPase-dependent activity owl:Class MONDO:0013920 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 3 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the TRAF3 gene. tmpaxzxjjyw_mondo_relaxed.owl Herpes simplex encephalitis, susceptibility to, type 3|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5|TRAF3 herpes simplex encephalitis|encephalopathy, acute, infection-induced, susceptibility to, 5|herpes simplex encephalitis, susceptibility to, 3|IIAE5|herpes simplex encephalitis caused by mutation in TRAF3|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5 OMIM:614849|Orphanet:1930 owl:Class MONDO:0017395 biolink:NamedThing fixed pigmented erythema tmpaxzxjjyw_mondo_relaxed.owl fixed drug eruption Orphanet:293812|SCTID:73692007|MedDRA:10048796 owl:Class GO:0015870 biolink:NamedThing acetylcholine transport The directed movement of acetylcholine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Acetylcholine is an acetic acid ester of the organic base choline and functions as a neurotransmitter, released at the synapses of parasympathetic nerves and at neuromuscular junctions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015695 biolink:NamedThing organic cation transport The directed movement of organic cations into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic cations are atoms or small molecules with a positive charge which contain carbon in covalent linkage. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006813 biolink:NamedThing nasal skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006986 biolink:NamedThing substernal goiter An enlarged thyroid gland with at least 50% of the gland situated behind the sternum. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the trachea leading to deviation, narrowing, and respiratory symptoms. tmpaxzxjjyw_mondo_relaxed.owl retrosternal thyroid goiter EFO:1001198|SCTID:66392007|UMLS:C0018024|MESH:D006045|DOID:13200 owl:Class MONDO:0003250 biolink:NamedThing benign granular cell tumor A granular cell tumor that is confined to the site of origin, without metastatic potential. tmpaxzxjjyw_mondo_relaxed.owl benign granular cell neoplasm|benign granular cell myoblastoma|granular cell tumor, benign|benign granular cell tumor|myoblastoma NCIT:C3252|DOID:5039|UMLS:C0027043 owl:Class MONDO:0056804 biolink:NamedThing benign neoplasm of peripheral nervous system tmpaxzxjjyw_mondo_relaxed.owl DOID:0080320 owl:Class CHEBI:35493 biolink:NamedThing antipyretic A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever. tmpaxzxjjyw_mondo_relaxed.owl anti-pyretic owl:Class UBERON:8410034 biolink:NamedThing lymph node artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003886 biolink:NamedThing mucinous cystadenofibroma A benign neoplasm characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. tmpaxzxjjyw_mondo_relaxed.owl mucinous cystadenofibroma DOID:6468|NCIT:C8979|UMLS:C1377844 owl:Class HP:0001935 biolink:NamedThing Microcytic anemia A kind of anemia in which the volume of the red blood cells is reduced. tmpaxzxjjyw_mondo_relaxed.owl Microcytic anaemia SNOMEDCT_US:234349007|MSH:C562385|UMLS:C0085576 In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). human_phenotype owl:Class HP:0010972 biolink:NamedThing Anemia of inadequate production A kind of anemia characterized by inadequate production of erythrocytes. tmpaxzxjjyw_mondo_relaxed.owl Dyserythropoietic anemia|Defective erythropoiesis|Anaemia of inadequate production|Ineffective erythropoiesis|Dyserythropoietic anaemia|Anemia, dyserythropoietic SNOMEDCT_US:70730006|UMLS:C0392708|UMLS:C0678199 peter 2011-02-06T02:24:54Z HP:0005553|HP:0005504|HP:0005501 human_phenotype owl:Class MONDO:0017998 biolink:NamedThing PLA2G6-associated neurodegeneration Any neurodegeneration with brain iron accumulation in which the cause of the disease is a mutation in the PLA2G6 gene. tmpaxzxjjyw_mondo_relaxed.owl neurodegeneration with brain iron accumulation caused by mutation in PLA2G6|PLAN|PLA2G6 neurodegeneration with brain iron accumulation GARD:0012567|ICD10:G23.0|Orphanet:329303 owl:Class MONDO:0018307 biolink:NamedThing neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl neurodegeneration with brain iron accumulation|NBIA Orphanet:385|DOID:0110734|MESH:C538421|GARD:0011899|OMIMPS:234200|ICD10:G23.0 Editor note: check relationship to PKAN owl:Class UBERON:0001332 biolink:NamedThing prepuce of penis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011374 biolink:NamedThing prepuce tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030939 biolink:NamedThing premature ovarian failure 18 tmpaxzxjjyw_mondo_relaxed.owl POF18|premature ovarian failure 18 OMIM:619203 owl:Class ENVO:01001784 biolink:NamedThing compound astronomical body part A part of an astronomical body which is primarily composed of a continuous medium bearing liquid, gaseous, and solid material in varying quantities. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000813 biolink:NamedThing astronomical body part A material part of an astronomical body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012953 biolink:NamedThing colorectal cancer, susceptibility to, 10 Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene. tmpaxzxjjyw_mondo_relaxed.owl colorectal cancer, susceptibility to, 10|POLD1 colorectal cancer|colorectal cancer caused by mutation in POLD1|colorectal cancer, susceptibility to, on chromosome 19Q|CRCS10|susceptibility to colorectal cancer 10|colorectal cancer, susceptibility to, type 10 OMIM:612591 owl:Class GO:0002429 biolink:NamedThing immune response-activating cell surface receptor signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of a cell capable of activating or perpetuating an immune response. tmpaxzxjjyw_mondo_relaxed.owl activation of immune response by cell surface receptor signaling pathway|immune response-activating cell surface receptor signalling pathway owl:Class GO:0002768 biolink:NamedThing immune response-regulating cell surface receptor signaling pathway A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell capable of activating, perpetuating, or inhibiting an immune response. tmpaxzxjjyw_mondo_relaxed.owl immune response-regulating cell surface receptor signalling pathway owl:Class HGNC:18121 biolink:NamedThing MFRP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015723 biolink:NamedThing trisomy 12p Trisomy 12p is an extremely rare chromosomal disorder (over 30 cases reported worldwide) characterized by craniofacial malformations (round face, prominent cheeks, high bulging forehead, broad and flat nasal bridge, short nose with anteverted nostrils, long philtrum, prominent and everted lower lip, low-set ears, abnormally folded helix, protuberant antihelix), postnatal growth retardation, mental and psychomotor retardation, generalized hypotonia, abnormally short wide hands and/or other abnormalities. tmpaxzxjjyw_mondo_relaxed.owl trisomy type 12p|Duplication 12p|12p duplication|12p trisomy|chromosome 12p duplication|partial trisomy 12p ICD10:Q92.3|Orphanet:1699|GARD:0005305|UMLS:C0795845|MESH:C538299 owl:Class MONDO:0016933 biolink:NamedThing partial trisomy/tetrasomy of the short arm of chromosome 12 tmpaxzxjjyw_mondo_relaxed.owl partial duplication/triplication of the short arm of chromosome 12|partial trisomy/tetrasomy of chromosome 12p|partial trisomy/tetrasomy of the short arm of chromosome type 12|partial duplication/triplication of chromosome 12p Orphanet:262658 owl:Class MONDO:0002515 biolink:NamedThing hepatobiliary disorder A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl liver and biliary disorder|liver and biliary tract disease|disorder of hepatobiliary system|liver and biliary system disorder|hepatobiliary system disease|liver and biliary disease|hepatobiliary disorder|disease or disorder of hepatobiliary system|disease of hepatobiliary system|hepatobiliary system disease or disorder DOID:3118|UMLS:C0267792|NCIT:C3959 owl:Class GO:0010701 biolink:NamedThing positive regulation of norepinephrine secretion Any process that increases the frequency, rate or extent of the regulated release of norepinephrine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0033605 biolink:NamedThing positive regulation of catecholamine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a catecholamine. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of catecholamine secretion|upregulation of catecholamine secretion|up regulation of catecholamine secretion|stimulation of catecholamine secretion|activation of catecholamine secretion owl:Class MONDO:0021605 biolink:NamedThing benign eyelid neoplasm A non-metastasizing neoplasm that arises from the upper or lower eyelid. tmpaxzxjjyw_mondo_relaxed.owl eyelid benign neoplasm|benign eyelid tumor|benign neoplasm of the eyelid|benign tumor of the eyelid|benign neoplasm of eyelid|benign eyelid neoplasm|benign tumor of eyelid UMLS:C0339107|SCTID:231824001|NCIT:C4354 owl:Class GO:0016126 biolink:NamedThing sterol biosynthetic process The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. tmpaxzxjjyw_mondo_relaxed.owl sterol anabolism|sterol synthesis|sterol formation|sterol biosynthesis owl:Class MONDO:0016615 biolink:NamedThing oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies tmpaxzxjjyw_mondo_relaxed.owl pauciarticular chronic arthritis with anti-nuclear antibodies|oligoarticular JIA with anti-nuclear antibodies ICD10:M08.4|Orphanet:247839|UMLS:CN201823 owl:Class MONDO:0019433 biolink:NamedThing oligoarticular juvenile idiopathic arthritis Oligoarticular juvenile arthritis is the most common form of juvenile idiopathic arthritis (JIA), representing nearly 50% of cases. tmpaxzxjjyw_mondo_relaxed.owl Pauciarticular juvenile idiopathic arthritis|Oligoarticular JIA|Pauciarticular JIA|Pauciarticular chronic arthritis UMLS:C2931171|ICD10:M08.4|UMLS:C3898105|Orphanet:85410|EFO:1002019|MESH:C536312|GARD:0004261|NCIT:C119032 owl:Class UBERON:0001045 biolink:NamedThing midgut tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013753 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2P Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive|CMT2P|Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth neuropathy, type 2G|Charcot-Marie-Tooth disease type 2G|CMT 2G|Charcot-Marie-Tooth disease caused by mutation in LRSAM1|LRSAM1 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, type 2G, formerly|CMT2G|Charcot-Marie-Tooth neuropathy, type 2P|autosomal dominant Charcot-Marie-Tooth disease type 2G|Charcot Marie Tooth disease type 2G|Charcot-Marie-Toothe disease, axonal, type 2P|Charcot-Marie-Tooth disease, axonal, type 2P|Charcot-Marie-Tooth disease type 2P|Charcot-Marie-Tooth disease, axonal, type 2G|Charcot-Marie-Tooth neuropathy type 2P Orphanet:99941|DOID:0110169|ICD10:G60.0|GARD:0012435|OMIM:608591|OMIM:614436|Orphanet:300319|SCTID:719511005|UMLS:C4304674|GARD:0009195|UMLS:C1837805|UMLS:C3280797 https://rarediseases.info.nih.gov/diseases/12435/charcot-marie-tooth-disease-type-2p owl:Class CL:0002255 biolink:NamedThing stromal cell of endometrium Connective tissue cells of the endometrium, these cells are fibroblastic in appearance. During decidualization they tranform into decidual (stromal) cells, swellling up and adopt an epithelial cell-like appearance due to the accumulation of glycogen and lipid droplets. tmpaxzxjjyw_mondo_relaxed.owl endometrial stromal cell CALOHA:TS-1266|FMA:86490 tmeehan 2010-09-08T09:50:04Z cell owl:Class CL:0000499 biolink:NamedThing stromal cell A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere. tmpaxzxjjyw_mondo_relaxed.owl BTO:0002064|FMA:83624 cell owl:Class MONDO:0016756 biolink:NamedThing inherited nervous system cancer-predisposing syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:252190|UMLS:CN202004 owl:Class MONDO:0006041 biolink:NamedThing lung carcinoid tumor A neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as typical or atypical carcinoid tumor based on the number of mitotic figures and the absence or presence of necrosis. Atypical carcinoid tumors have a worse prognosis. tmpaxzxjjyw_mondo_relaxed.owl lung carcinoid tumor (disease)|carcinoid tumor of lung|carcinoid tumor of the lung|lung carcinoid tumor|pulmonary carcinoid tumor|carcinoid tumor (disease) of lung|lung carcinoid SCTID:254627002|UMLS:C0280089|EFO:1000037|NCIT:C4038|ONCOTREE:LUCA owl:Class MONDO:0005824 biolink:NamedThing Legionnaires' disease A pneumonia caused by Legionella pneumophila and other Legionella species, which is characterized by fever, cough, progressive respiratory distress, and which is often accompanied by extrapulmonary manifestations. tmpaxzxjjyw_mondo_relaxed.owl Legionella pneumonia|infection by Legionella pneumophilia|legionnaire's disease|Legionella NCIT:C128339|SCTID:195889001|DOID:10457|ICD10:A48.1|EFO:0007343|MESH:D007877|ICD9:482.84 owl:Class MONDO:0005823 biolink:NamedThing legionellosis Any disease caused by Legionella bacteria. tmpaxzxjjyw_mondo_relaxed.owl Legionnaires disease|Legionella infection MESH:D007877|MedDRA:10061266|UMLS:CN205282|SCTID:26726000|MedDRA:10035718|EFO:0007342|DOID:10458|Orphanet:549|NCIT:C128334|ICD10:A48.1|MESH:D007876|UMLS:C0023240 owl:Class MONDO:0024541 biolink:NamedThing trichohepatoenteric syndrome 1 Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the TTC37 gene. tmpaxzxjjyw_mondo_relaxed.owl TRICHOHEPATOENTERIC syndrome 1|trichohepatoenteric syndrome 1|TTC37 tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|THES1|tricho-hepato-enteric syndrome caused by mutation in TTC37|The syndrome|diarrhea, syndromic Orphanet:84064|OMIM:222470|DOID:0111415|UMLS:CN034858|UMLS:C1857276 owl:Class MONDO:0100479 biolink:NamedThing rifampicin-resistant tuberculosis A form of drug-resistant tuberculosis that is resisant to rifampicin with or without resistance to other antitubercular medications. tmpaxzxjjyw_mondo_relaxed.owl rifampicin-resistant TB|RR-TB http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0003360 biolink:NamedThing epithelium of parotid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020502 biolink:NamedThing yellow fever Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure. tmpaxzxjjyw_mondo_relaxed.owl urban yellow fever|Yellow Jack|Yellow fever virus infectious disease|YF|sylvatic yellow fever|Yellow fever, sylvan|Yellow fever virus caused disease or disorder|jungle yellow fever|Yellow fever virus disease or disorder|bronze John|Yellow fever Virus infection MESH:D015004|MedDRA:10048240|GARD:0007914|UMLS:C0043395|DOID:9682|UMLS:C0043397|UMLS:C0043398|ICD10:A95.9|ICD10:A95|NCIT:C35547|ICD9:060|ICD9:060.9|ICD10:A95.0|ICD10:A95.1|Orphanet:99829 https://rarediseases.info.nih.gov/diseases/7914/yellow-fever owl:Class HGNC:4702 biolink:NamedThing GYPA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033548 biolink:NamedThing myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies tmpaxzxjjyw_mondo_relaxed.owl MYODRIF|Myopathy, Congenital, Due to Myod1 Deficiency|MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES OMIM:618975 owl:Class NCBITaxon:9606 biolink:NamedThing Homo sapiens tmpaxzxjjyw_mondo_relaxed.owl human|man GC_ID:1 ncbi_taxonomy owl:Class FOODON:03411134 biolink:NamedThing mammal Mammals (from Latin mamma "breast") are vertebrate animals constituting the class Mammalia, and characterized by the presence of mammary glands which in females produce milk for feeding (nursing) their young, a neocortex (a region of the brain), fur or hair, and three middle ear bones. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005589 biolink:NamedThing thiopurine immunosuppressant-induced pancreatitis Pancreatits that is the result of treatment with thiopurine immunosuppressants such as azathioprine or mercaptopurine. tmpaxzxjjyw_mondo_relaxed.owl EFO:0006315 owl:Class GO:0060050 biolink:NamedThing positive regulation of protein glycosylation Any process that activates or increases the frequency, rate or extent of the glycosylation of one or more amino acid residues within a protein. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of protein amino acid glycosylation owl:Class MONDO:0018391 biolink:NamedThing male infertility with spermatogenesis disorder tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 ICD10:N46|GARD:0012512|Orphanet:399775|UMLS:CN227339 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class MONDO:0006088 biolink:NamedThing appendix adenoma A circumscribed neoplasm arising from the glandular epithelium of the appendix. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. tmpaxzxjjyw_mondo_relaxed.owl appendix adenoma|vermiform appendix adenoma NCIT:C43550|UMLS:C1706829|EFO:1000089 owl:Class GO:0060474 biolink:NamedThing positive regulation of flagellated sperm motility involved in capacitation The process in which the controlled movement of a flagellated sperm cell is initiated as part of the process required for flagellated sperm to reach fertilization competence. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of sperm motility involved in capacitation owl:Class HGNC:7590 biolink:NamedThing MYLK tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009906 biolink:NamedThing root of optic nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019783 biolink:NamedThing neovascular glaucoma Neovascular glaucoma is the most common type of secondary glaucoma, usually caused by diabetic retinopathy, central retinal vein occlusion and carotid artery obstruction but sometimes by trauma, uvietis or ocular tumors, and characterized by severe eye pain, synechial angle glaucoma, high intraocular pressure and leading to loss of vision. tmpaxzxjjyw_mondo_relaxed.owl secondary angle-closure glaucoma with rubeosis DOID:1687|Orphanet:94058|MESH:D015355|SCTID:232086000|EFO:1001060|UMLS:C0017609|MedDRA:10062891 owl:Class MONDO:0018203 biolink:NamedThing LMNA-related cardiocutaneous progeria syndrome A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies. tmpaxzxjjyw_mondo_relaxed.owl LCPS Orphanet:363618|UMLS:CN204714|ICD10:E34.8 owl:Class GO:1902338 biolink:NamedThing negative regulation of apoptotic process involved in morphogenesis Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl downregulation of apoptosis involved in morphogenesis|inhibition of apoptosis involved in development|down-regulation of apoptotic process involved in morphogenesis|down-regulation of morphogenetic apoptosis|negative regulation of apoptosis involved in morphogenesis|down regulation of apoptosis involved in development|inhibition of morphogenetic apoptosis|down regulation of apoptotic process involved in morphogenesis|downregulation of apoptotic process involved in morphogenesis|negative regulation of morphogenetic apoptosis|inhibition of apoptosis involved in morphogenesis|downregulation of morphogenetic apoptosis|down-regulation of apoptosis involved in morphogenesis|inhibition of apoptotic process involved in morphogenesis|down regulation of apoptosis involved in morphogenesis|negative regulation of apoptosis involved in development|downregulation of apoptosis involved in development|down-regulation of apoptosis involved in development|down regulation of morphogenetic apoptosis owl:Class GO:1902337 biolink:NamedThing regulation of apoptotic process involved in morphogenesis Any process that modulates the frequency, rate or extent of apoptotic process involved in morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl regulation of apoptosis involved in morphogenesis|regulation of apoptosis involved in development|regulation of morphogenetic apoptosis owl:Class MONDO:0007495 biolink:NamedThing dystonia 5 Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. tmpaxzxjjyw_mondo_relaxed.owl dystonia-Parkinsonism with diurnal fluctuation|HPD with marked diurnal fluctuation|GTPCH1-deficient DRD|autosomal dominant Segawa syndrome|GTPCH1-deficient dopa-responsive dystonia|Dopa-responsive dystonia; Segawa syndrome AD|autosomal dominant dopa-responsive dystonia|GTP cyclohydrolase 1-deficient dopa-responsive dystonia|hereditary progressive dystonia with marked diurnal fluctuation|dystonia 5|DYT-GCH1|dystonia, progressive, with diurnal variation|Segawa syndrome, autosomal dominant|DRD|dystonia type 5|dystonia, DOPA-responsive|DYT5a|dystonia, Dopa-responsive, autosomal dominant|Dopa-responsive dystonia, autosomal dominant SCTID:715768000|Orphanet:98808|OMIM:128230|UMLS:CN207122|ICD10:G24.1|GARD:0012144|UMLS:C1851920|DOID:0090043 owl:Class MONDO:0017756 biolink:NamedThing disorder of pterin metabolism tmpaxzxjjyw_mondo_relaxed.owl Orphanet:309819|UMLS:CN227201 owl:Class MONDO:0017278 biolink:NamedThing autoimmune polyendocrinopathy A group of diverse conditions that are characterized by spontaneous, multi-organ autoimmunity, which target both endocrine (adrenal, gonad, pancreatic islet cells, parathyroid, pituitary, thyroid) and non-endocrine (gastrointestinal, integumentary, lymphatic) tissues. tmpaxzxjjyw_mondo_relaxed.owl autoimmune polyglandular failure|autoimmune polyendocrinopathy|autoimmune polyendocrine syndrome|autoimmune polyendocrinopathy syndrome|autoimmune polyglandular syndrome(s)|Lloyd's syndrome|APS|autoimmune polyglandular syndrome|autoimmune polyendocrine syndrome; polyglandular autoimmune syndrome DOID:14040|NCIT:C129726|ICD9:258.8|UMLS:C0085409|NCIT:C84576|ICD10:E31.0|SCTID:41864002|Orphanet:282196|UMLS:C4316913 owl:Class CHEBI:23359 biolink:NamedThing colchicine An alkaloid that is a carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position. It has been isolated from the plants belonging to genus Colchicum. tmpaxzxjjyw_mondo_relaxed.owl N-(1,2,3,10-tetramethoxy-9-oxo-5,6,7,9-tetrahydrobenzo[a]heptalen-7-yl)acetamide owl:Class CHEBI:22315 biolink:NamedThing alkaloid Any of the naturally occurring, basic nitrogen compounds (mostly heterocyclic) occurring mostly in the plant kingdom, but also found in bacteria, fungi, and animals. By extension, certain neutral compounds biogenetically related to basic alkaloids are also classed as alkaloids. Amino acids, peptides, proteins, nucleotides, nucleic acids, amino sugars and antibiotics are not normally regarded as alkaloids. Compounds in which the nitrogen is exocyclic (dopamine, mescaline, serotonin, etc.) are usually classed as amines rather than alkaloids. tmpaxzxjjyw_mondo_relaxed.owl alcaloides|Alkaloid|Alkaloide|alkaloids|alcaloide owl:Class HP:0100799 biolink:NamedThing Neoplasm of the middle ear A tumor (abnormal growth of tissue) of the middle ear. tmpaxzxjjyw_mondo_relaxed.owl Neoplasia of the middle ear|Middle ear tumor|Middle ear tumour SNOMEDCT_US:127006003|UMLS:C0345617|NCIT:C3262 doelkens 2011-06-08T04:25:43Z human_phenotype owl:Class HP:0012780 biolink:NamedThing Neoplasm of the ear A tumor (abnormal growth of tissue) of the ear. tmpaxzxjjyw_mondo_relaxed.owl Ear tumor|Ear tumour MSH:D004428|SNOMEDCT_US:363228008|NCIT:C3262|UMLS:C0013449 peter 2014-04-07T06:11:56Z human_phenotype owl:Class HP:0100508 biolink:NamedThing Abnormality of vitamin metabolism An anomaly in the metabolism of a vitamin. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of vitamin metabolism UMLS:C4022036 Vitamins are organic substances that are essential in minute quantities and not produced within the body, instead being present in natural foodstuffs. Vitamins act as coenzymes or precursors of coenzymes in the regulation of metabolic processes. doelkens 2010-12-17T06:17:22Z human_phenotype owl:Class HP:0032245 biolink:NamedThing Abnormal metabolism An abnormality in the function of the chemical reactions related to processes including conversion of food to enter, synthesis of proteins, lipids, nucleic acids, and carbohydrates, or the elimination of waste products. tmpaxzxjjyw_mondo_relaxed.owl 2019-01-27 12:48:52+00:00 peter human_phenotype owl:Class MONDO:0032812 biolink:NamedThing developmental and epileptic encephalopathy, 78 tmpaxzxjjyw_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 78|DEE78|epileptic encephalopathy, early infantile, 78|EIEE78 OMIM:618557 owl:Class GO:0045785 biolink:NamedThing positive regulation of cell adhesion Any process that activates or increases the frequency, rate or extent of cell adhesion. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of cell adhesion|activation of cell adhesion|stimulation of cell adhesion|up regulation of cell adhesion|upregulation of cell adhesion owl:Class MONDO:0014575 biolink:NamedThing Singleton-Merten syndrome 2 Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene. tmpaxzxjjyw_mondo_relaxed.owl SGMRT2|singleton-Merten syndrome 2|DDX58 singleton-Merten dysplasia|singleton-Merten dysplasia caused by mutation in DDX58|singleton-Merten syndrome type 2 UMLS:C4225380|OMIM:616298|Orphanet:85191 owl:Class MONDO:0008429 biolink:NamedThing Singleton-Merten dysplasia Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male). tmpaxzxjjyw_mondo_relaxed.owl syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition|SM syndrome|widened medullary cavities of bone, aortic calcification, abnormal dentition, and muscular weakness|Singleton-Merten syndrome|singleton Merten syndrome|SGMRT1|Merten-Singleton syndrome OMIMPS:182250|Orphanet:85191|ICD10:Q78.8|MESH:C537343|SCTID:254114000|GARD:0000122|UMLS:C0432254|OMIM:182250|OMIM:616298|ICD9:733.29 owl:Class MONDO:0006861 biolink:NamedThing myeloid sarcoma A tumor mass composed of myeloblasts or immature myeloid cells. It occurs in extramedullary sites or the bone. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl chloroma|granulocytic sarcoma|myeloid sarcoma|sarcoma, myeloid, malignant|MS|extramedullary myeloid tumor MESH:D023981|Orphanet:86850|NCIT:C3520|ICD10:C92.30|DOID:8683|ICD10:C92.3|NCIT:C35815|MedDRA:10028562|GARD:0012763|EFO:1001052|ICD9:205.3|ICDO:9930/3|ONCOTREE:MS owl:Class CHEBI:27369 biolink:NamedThing zwitterion A neutral compound having formal unit electrical charges of opposite sign on non-adjacent atoms. Sometimes referred to as inner salts, dipolar ions (a misnomer). tmpaxzxjjyw_mondo_relaxed.owl compuestos zwitterionicos|zwitterions|zwitterion|zwitterionic compounds|compose zwitterionique|zwitteriones owl:Class CHEBI:51151 biolink:NamedThing dipolar compound An organic molecule that is electrically neutral carrying a positive and a negative charge in one of its major canonical descriptions. In most dipolar compounds the charges are delocalized; however the term is also applied to species where this is not the case. tmpaxzxjjyw_mondo_relaxed.owl dipolar compounds owl:Class MONDO:0014775 biolink:NamedThing combined oxidative phosphorylation deficiency 28 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 28|neonatal severe cardiopulmonary failure due to mitochondrial methylation defect|COXPD28|combined oxidative phosphorylation deficiency 28|SLC25A26 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in SLC25A26|combined oxidative phosphorylation defect type 28 Orphanet:466784|DOID:0111470|UMLS:C4225206|OMIM:616794 owl:Class MONDO:0016801 biolink:NamedThing mitochondrial substrate carrier disorder tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227002|Orphanet:254830 owl:Class UBERON:0006658 biolink:NamedThing interphalangeal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015721 biolink:NamedThing mild hemophilia A Mild hemophilia A is a form of hemophilia A characterized by a small deficiency of factor VIII leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpaxzxjjyw_mondo_relaxed.owl mild factor VIII deficiency|mild hemophilia type A Orphanet:169808|UMLS:C0272324|ICD10:D66|SCTID:26029002 owl:Class MONDO:0017559 biolink:NamedThing congenital elbow dislocation, bilateral tmpaxzxjjyw_mondo_relaxed.owl Orphanet:295227|ICD10:Q68.8 owl:Class MONDO:0017469 biolink:NamedThing congenital elbow dislocation tmpaxzxjjyw_mondo_relaxed.owl isolated congenital radial head dislocation|isolated congenital elbow dislocation|congenital radial head dislocation Orphanet:295032|ICD10:Q68.8 owl:Class MONDO:0010425 biolink:NamedThing Lisch epithelial corneal dystrophy Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. tmpaxzxjjyw_mondo_relaxed.owl Lisch epithelial corneal dystrophy|band-Shaped and whorled microcystic corneal epithelial dystrophy|corneal dystrophy, Lisch epithelial|band-shaped and whorled microcystic dystrophy of the corneal epithelium|LECD|band-shaped and whorled microcystic Orphanet:98955|ICD10:H18.5|SCTID:724175002|UMLS:C2749050|OMIM:300778|DOID:0060450|MESH:C567588 owl:Class MONDO:0020212 biolink:NamedThing superficial corneal dystrophy The superficial corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal epithelium and its basement membrane and the superficial corneal stroma, and variable effects on vision depending on the type of dystrophy. tmpaxzxjjyw_mondo_relaxed.owl anterior corneal dystrophy|corneal epithelium corneal dystrophy (disease)|dystrophy of anterior cornea ICD9:371.52|Orphanet:98625|SCTID:430888006|UMLS:C2315777|ICD10:H18.5 owl:Class CL:1001045 biolink:NamedThing kidney cortex artery cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001077 cell owl:Class CL:1000891 biolink:NamedThing kidney arterial blood vessel cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001029 cell owl:Class MONDO:0022578 biolink:NamedThing childhood bladder carcinoma A rare carcinoma of the bladder that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl bladder cancer|bladder carcinoma, childhood|bladder cancer childhood|bladder cancer, childhood|childhood bladder carcinoma|childhood bladder cancer GARD:0009305|NCIT:C118816|UMLS:C3899675 https://rarediseases.info.nih.gov/diseases/9305/bladder-cancer-childhood owl:Class MONDO:0011285 biolink:NamedThing age related macular degeneration 1 An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. tmpaxzxjjyw_mondo_relaxed.owl age related macular degeneration type 1|macular Degeneration, age-related, type 1|age related maculopathy 1|macular degeneration, age-related, 1|ARMD1|maculopathy, age-related, 1 OMIM:603075|UMLS:C1864205|MESH:C566411|DOID:0110014 owl:Class MONDO:0034204 biolink:NamedThing syndromic congenital sodium diarrhea tmpaxzxjjyw_mondo_relaxed.owl Orphanet:563708 owl:Class MONDO:0019126 biolink:NamedThing intractable diarrhea of infancy Intractable diarrhoea of infancy (IDI) is a heterogeneous syndrome that includes several diseases with different aetiologies. Provisional classification of IDI, according to villous atrophy and based on immunohistological criteria, distinguishes two clearly different groups of IDI: 1) Immune-mediated: characterised by a mononuclear cell infiltration of the lamina propria and considered as being related to T cell activation. 2) The second histological pattern includes early onset severe intractable diarrhoea histologically characterised by villous atrophy with low or without mononuclear cell infiltration of the lamina propria but specific histological abnormalities involving the epithelium. tmpaxzxjjyw_mondo_relaxed.owl IDI Orphanet:73014 owl:Class MONDO:0045015 biolink:NamedThing carbohydrate transport disease A disease that has its basis in the disruption of carbohydrate transport. tmpaxzxjjyw_mondo_relaxed.owl carbohydrate transport disease|disorder of carbohydrate transport UMLS:C0268173|SCTID:54905006 owl:Class MONDO:0014349 biolink:NamedThing pontocerebellar hypoplasia type 10 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene. tmpaxzxjjyw_mondo_relaxed.owl PCH10|non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1|CLP1-related pontocerebellar hypoplasia|CLP1 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 10 OMIM:615803|DOID:0060279|Orphanet:411493|ICD10:Q04.3|UMLS:C4014347 owl:Class UBERON:0005792 biolink:NamedThing nephric ridge tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005023 biolink:NamedThing mucosa of oropharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000355 biolink:NamedThing pharyngeal mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001907 biolink:NamedThing gluten refined food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00002131 biolink:NamedThing plant based refined or partially-refined food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017906 biolink:NamedThing amyloidosis cutis dyschromia Amyloidosis cutis dyschromia is a rare primary cutaneous amyloidosis characterized by macular or reticulate hyperpigmentation with symmetrically distributed guttate hypo- and hyperpigmented lesions which progress gradually over the years to involve almost the entire body (with relative sparing of the face, hands, feet and neck). Patients are usually asymptomatic, however mild pruritus may be associated. Amyloid deposition in the papillary dermis is observed on skin biopsy. Systemic amyloidosis is not present and association with generalized morphea, atypical Parkinsonism, spasticity, motor weakness or colon carcinoma is rare. tmpaxzxjjyw_mondo_relaxed.owl amyloidosis cutis dyschromica ICD10:E85.4+|Orphanet:319635|ICD10:L99.0* owl:Class MONDO:0015301 biolink:NamedThing primary cutaneous amyloidosis Cutaneous amyloidosis refers to a variety of skin diseases characterized histologically by the extracellular accumulation of amyloid deposits in the dermis. Rare forms include lichen amyloidosus, X-linked reticulate pigmentary disorder, primary localized cutaneous nodular amyloidosis, and macular amyloidosis. tmpaxzxjjyw_mondo_relaxed.owl amyloidosis familial cutaneous lichen|amyloidosis, primary localized cutaneous|familial primary localized cutaneous amyloidosis|lichen amyloidosis familial|primary localized cutaneous amyloidosis|amyloidosis IX|PLCA GARD:0000132|ICD10:E85.4+|MedDRA:10011659|MESH:C562642|ICD10:L99.0*|DOID:0050639|Orphanet:137807|UMLS:C0268397|SCTID:282834007 https://rarediseases.info.nih.gov/diseases/132/primary-cutaneous-amyloidosis owl:Class MONDO:0019549 biolink:NamedThing severe early-onset axonal neuropathy due to MFN2 deficiency Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type|AR-CMT2, Ouvrier type|SEOAN due to MFN2 deficiency ICD10:G60.0|SCTID:766977007|UMLS:CN206378|Orphanet:90118 owl:Class NCBITaxon:119068 biolink:NamedThing Spirillaceae tmpaxzxjjyw_mondo_relaxed.owl Spirillum group GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:32003 biolink:NamedThing Nitrosomonadales tmpaxzxjjyw_mondo_relaxed.owl Ammonia-oxidizing bacteria|Ammonia oxidizing bacteria GC_ID:11|PMID:25701846|PMID:11760943|PMID:28581923|PMID:16403855|PMID:25017294|PMID:10028253 NCBITaxon:206350|NCBITaxon:1559979|NCBITaxon:713636 ncbi_taxonomy owl:Class NCBITaxon:12086 biolink:NamedThing Human poliovirus 3 tmpaxzxjjyw_mondo_relaxed.owl HPV-3|Human poliovirus type 3|Poliovirus 3|Polio virus 3|Poliovirus type 3 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:138950 biolink:NamedThing Enterovirus C tmpaxzxjjyw_mondo_relaxed.owl Poliovirus|Human enterovirus C|Enterovirus EV-C GC_ID:1 NCBITaxon:138953 ncbi_taxonomy owl:Class PATO:0010001 biolink:NamedThing disconnected A structural quality inhering in the bearer by virtue of the bearer consisting of multiple structures lacking any physical connection to each other. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000307 biolink:NamedThing parasitic Ichthyosporea infectious disease A disease caused by infection with Ichthyosporea. tmpaxzxjjyw_mondo_relaxed.owl Ichthyosporea infectious disease|Ichthyosporea disease or disorder|Ichthyosporea caused disease or disorder DOID:0050291 owl:Class MONDO:0003373 biolink:NamedThing kidney leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the kidney. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl renal leiomyosarcoma|leiomyosarcoma of the kidney|leiomyosarcoma of kidney|kidney leiomyosarcoma UMLS:C1335743|NCIT:C6183|DOID:5287 owl:Class UBERON:0000977 biolink:NamedThing pleura tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010800 biolink:NamedThing Wolfram syndrome, mitochondrial form tmpaxzxjjyw_mondo_relaxed.owl Didmoad syndrome, mitochondrial form|Wolfram syndrome, mitochondrial form|diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form Orphanet:3463|UMLS:C1838782|DOID:0080583|MESH:C564012|OMIM:598500 owl:Class MONDO:0018105 biolink:NamedThing Wolfram syndrome Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2). tmpaxzxjjyw_mondo_relaxed.owl Wolfram syndrome|WFS|diabetes mellitus and insipidus with optic atrophy and deafness|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome|DIDMOAD syndrome|diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome|DIDMOAD MESH:D014929|SCTID:70694009|UMLS:CN184630|UMLS:C0043207|ICD9:250.80|DOID:10632|ICD10:E13.8|NCIT:C35133|OMIM:222300|GARD:0007898|OMIM:598500|Orphanet:3463|OMIM:604928 owl:Class GO:1903770 biolink:NamedThing negative regulation of beta-galactosidase activity Any process that stops, prevents or reduces the frequency, rate or extent of beta-galactosidase activity. tmpaxzxjjyw_mondo_relaxed.owl inhibition of oryzatym|down-regulation of beta-D-galactanase activity|negative regulation of S 2107|downregulation of beta-D-lactosidase activity|down regulation of trilactase activity|inhibition of sumiklat|down regulation of maxilact|downregulation of maxilact|downregulation of oryzatym|inhibition of hydrolact|downregulation of exo-(1->4)-beta-D-galactanase activity|down regulation of beta-galactosidase activity|downregulation of beta-D-galactoside galactohydrolase activity|down-regulation of beta-lactosidase activity|down regulation of hydrolact|down-regulation of beta-galactosidase activity|inhibition of beta-lactosidase activity|inhibition of beta-D-galactanase activity|down-regulation of S 2107|down-regulation of hydrolact|inhibition of maxilact|down regulation of lactose hydrolysis|down-regulation of lactozym|negative regulation of lactozym|negative regulation of oryzatym|down-regulation of exo-(1->4)-beta-D-galactanase activity|negative regulation of sumiklat|down-regulation of maxilact|inhibition of beta-D-galactoside galactohydrolase activity|down regulation of oryzatym|downregulation of S 2107|downregulation of sumiklat|inhibition of trilactase activity|downregulation of beta-D-galactanase activity|down regulation of beta-D-lactosidase activity|negative regulation of beta-lactosidase activity|down regulation of beta-lactosidase activity|downregulation of trilactase activity|inhibition of lactozym|negative regulation of beta-D-galactanase activity|negative regulation of maxilact|negative regulation of trilactase activity|down-regulation of oryzatym|downregulation of hydrolact|negative regulation of hydrolact|negative regulation of beta-D-galactoside galactohydrolase activity|inhibition of beta-D-lactosidase activity|downregulation of beta-galactosidase activity|down-regulation of beta-D-galactoside galactohydrolase activity|negative regulation of exo-(1->4)-beta-D-galactanase activity|inhibition of exo-(1->4)-beta-D-galactanase activity|down regulation of beta-D-galactoside galactohydrolase activity|inhibition of beta-galactosidase activity|down-regulation of sumiklat|inhibition of S 2107|down regulation of lactozym|down regulation of beta-D-galactanase activity|down-regulation of beta-D-lactosidase activity|down regulation of exo-(1->4)-beta-D-galactanase activity|down-regulation of trilactase activity|down regulation of S 2107|negative regulation of beta-D-lactosidase activity|down-regulation of lactose hydrolysis|negative regulation of lactose hydrolysis|inhibition of lactose hydrolysis|downregulation of lactose hydrolysis|downregulation of beta-lactosidase activity|downregulation of lactozym|down regulation of sumiklat owl:Class GO:0051346 biolink:NamedThing negative regulation of hydrolase activity Any process that stops or reduces the rate of hydrolase activity, the catalysis of the hydrolysis of various bonds. tmpaxzxjjyw_mondo_relaxed.owl inhibition of hydrolase activity|down regulation of hydrolase activity|downregulation of hydrolase activity|down-regulation of hydrolase activity|hydrolase inhibitor owl:Class MONDO:0013844 biolink:NamedThing stuttering, familial persistent, 4 tmpaxzxjjyw_mondo_relaxed.owl stuttering, familial persistent, 4|STUT4 UMLS:C3553403|OMIM:614668 owl:Class CL:0002573 biolink:NamedThing Schwann cell A glial cell that ensheathes axons of neuron in the peripheral nervous system and are necessary for their maintainance and function. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-0898|BTO:0001220 tmeehan 2011-03-02T01:19:27Z cell owl:Class MONDO:0017902 biolink:NamedThing autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency|autosomal recessive MSMD due to partial IFNgammaR2 deficiency|IFNGR2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2|autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency UMLS:CN203961|ICD10:D84.8|Orphanet:319574|OMIM:614889 owl:Class MONDO:0013953 biolink:NamedThing immunodeficiency 28 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency type 28|IMD28|Ifngr2 deficiency|immunodeficiency 28|immunodeficiency 28, Mycobacteriosis|IFNGR2 primary immunodeficiency disease|primary immunodeficiency disease caused by mutation in IFNGR2 OMIM:614889|UMLS:C4013947|Orphanet:319574|Orphanet:319547 owl:Class MONDO:0015042 biolink:NamedThing primary plasmacytoma of the bone tmpaxzxjjyw_mondo_relaxed.owl Orphanet:100021|ICD10:C90.3|UMLS:CN197327 owl:Class MONDO:0005615 biolink:NamedThing plasmacytoma Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations. tmpaxzxjjyw_mondo_relaxed.owl anaplastic skeletal plasmacytoma (type)|extramedullary anaplastic plasmacytoma (type)|solitary myeloma|anaplastic solitary extramedullary plasmacytoma of the cecum (type)|plasmacytoma|anaplastic plasmacytoma|myeloma - solitary|myeloma, solitary|solitary plasmacytoma ICD10:C90.30|MESH:D010954|ICD9:238.6|ICD10:C90.2|GARD:0007404|ICDO:9731/3|MedDRA:10035484|EFO:0006738|DOID:3721|SCTID:415112005|UMLS:C0032131|ICD10:C90.3|Orphanet:86855|NCIT:C9349 alternative definition: A type of cancer that begins in plasma cells (white blood cells that produce antibodies). A plasmacytoma may turn into multiple myeloma. owl:Class MONDO:0033555 biolink:NamedThing immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia tmpaxzxjjyw_mondo_relaxed.owl IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA|IMD73C OMIM:618987 owl:Class MONDO:0019075 biolink:NamedThing Bosley-Salih-Alorainy syndrome Bosley-Salih-Alorainy syndrome (BSAS) is characterized by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.8|Orphanet:69737|OMIM:601536 owl:Class MONDO:0011099 biolink:NamedThing human HOXA1 syndromes Human HOXA1 syndromes is characterised by deafness, central hypoventilation, congenital ocular paralysis and developmental retardation. Cardiac anomalies and paralysis of the vocal chords may also be present. Six cases have been reported so far. Transmission is thought to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl ABSD|Navajo brainstem syndrome|Athabaskan brainstem dysgenesis syndrome|BSAS|Human HOXA1 syndromes|Bosley-Salih-Alorainy syndrome|Athabascan brainstem dysgenesis syndrome|Bosley Salih Alorainy syndrome|ABDS|Athabaskan brainstem dysgenesis SCTID:720518006|UMLS:C1832215|Orphanet:69737|OMIM:601536|Orphanet:69739|GARD:0008333|DOID:0050682 https://github.com/monarch-initiative/mondo/issues/1377 owl:Class GO:0090174 biolink:NamedThing organelle membrane fusion The joining of two lipid bilayers to form a single organelle membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048284 biolink:NamedThing organelle fusion The creation of a single organelle from two or more organelles. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0025408 biolink:NamedThing Abnormal spleen morphology Any anomaly of the structure of the spleen. tmpaxzxjjyw_mondo_relaxed.owl Splenic lesion 2017-04-23 10:55:52+00:00 HPO:probinson human_phenotype owl:Class HP:0001743 biolink:NamedThing Abnormality of the spleen An abnormality of the spleen. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the spleen UMLS:C4025749 The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system. human_phenotype owl:Class MONDO:0016721 biolink:NamedThing pineal tumor of neuroepithelial tissue tmpaxzxjjyw_mondo_relaxed.owl Orphanet:251905|UMLS:CN201969 owl:Class GO:0005886 biolink:NamedThing plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. tmpaxzxjjyw_mondo_relaxed.owl bacterial inner membrane|juxtamembrane|plasmalemma|inner endospore membrane|cellular membrane|plasma membrane lipid bilayer|cell membrane|cytoplasmic membrane owl:Class MONDO:0015839 biolink:NamedThing septate uterus tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q51.2|SCTID:22504001|Orphanet:180122|MedDRA:10062606 owl:Class GO:0099177 biolink:NamedThing regulation of trans-synaptic signaling Any process that modulates the frequency, rate or extent of trans-synaptic signaling. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010646 biolink:NamedThing regulation of cell communication Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032594 biolink:NamedThing protein transport within lipid bilayer The directed movement of a protein from one location to another within a lipid bilayer. tmpaxzxjjyw_mondo_relaxed.owl receptor transport within lipid bilayer|receptor translocation within membrane|protein translocation within membrane owl:Class GO:0006886 biolink:NamedThing intracellular protein transport The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. tmpaxzxjjyw_mondo_relaxed.owl copper-induced intracellular protein transport owl:Class MONDO:0002745 biolink:NamedThing fallopian tube mucinous tumor A rare borderline or malignant epithelial tumor of the fallopian tube characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube mucinous neoplasm|fallopian tube mucinous tumor NCIT:C40109|DOID:3705|UMLS:C1517120 owl:Class MONDO:0004976 biolink:NamedThing amyotrophic lateral sclerosis Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. tmpaxzxjjyw_mondo_relaxed.owl Lou Gehrig's disease|ALS|Lou Gehrig disease|motor neuron disease, bulbar|Charcot disease|amyotrophic lateral sclerosis MESH:D000690|DOID:332|ICD10:G12.21|UMLS:C0002736|ICD9:335.20|SCTID:86044005|KEGG:05014|EFO:0000253|NCIT:C34373|NIFSTD:birnlex_12566|Orphanet:803|ICD10:G12.2|GARD:0005786|MedDRA:10002026 owl:Class MONDO:0015579 biolink:NamedThing Hb Bart's hydrops fetalis Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia. tmpaxzxjjyw_mondo_relaxed.owl Hemoglobin Bart's hydrops fetalis|Alpha-thalassemia major|Alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia SCTID:5300004|ICD10:D56.0|OMIM:236750|ICD9:282.49|Orphanet:163596 owl:Class MONDO:0009369 biolink:NamedThing non-immune hydrops fetalis Non-immune hydrops fetalis (NIHF), a form of HF, is a severe fetal condition defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities, and is the end-stage of a wide variety of disorders. tmpaxzxjjyw_mondo_relaxed.owl non-immune HF|Hemoglobin H hydrops fetalis syndrome|hydrops fetalis, Alpha-thalassemia-related|NIHF|non-immune fetal hydrops|hydrops fetalis, nonimmune|non-immune fetal edema Orphanet:1041|ICD9:778.0|Orphanet:163596|UMLS:C0455988|SCTID:276509008|ICD10:P83.2|NCIT:C111905|EFO:0009051|ICD10:P56.9|Orphanet:363999|OMIM:236750 owl:Class MONDO:0001112 biolink:NamedThing bubonic plague A plague in which the bacteria have infected the lymphatic system. tmpaxzxjjyw_mondo_relaxed.owl black death ICD9:020.0|SCTID:58750007|GARD:0000183|ICD10:A20.0|UMLS:C0282312|MESH:D010930|SCTID:50797007|DOID:10773 https://rarediseases.info.nih.gov/diseases/183/bubonic-plague owl:Class HGNC:4817 biolink:NamedThing HARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:32594 biolink:NamedThing barium atom tmpaxzxjjyw_mondo_relaxed.owl Ba|barium|baryum|56Ba|Barium|bario owl:Class CHEBI:22313 biolink:NamedThing alkaline earth metal atom tmpaxzxjjyw_mondo_relaxed.owl metal alcalino-terreux|metaux alcalino-terreux|alkaline-earth metals|Erdalkalimetall|Erdalkalimetalle|alkaline-earth metal|alkaline earth metals|metal alcalinoterreo|alkaline earth metal|metales alcalinoterreos owl:Class HP:0001627 biolink:NamedThing Abnormal heart morphology Any structural anomaly of the heart. tmpaxzxjjyw_mondo_relaxed.owl Cardiac anomaly|Abnormality of cardiac morphology|Abnormality of the heart|Cardiac anomalies|Congenital heart defects|Abnormally shaped heart|Congenital heart defect|Cardiac abnormality|Heart defect UMLS:C0018798|UMLS:C0152021|MSH:D006330|SNOMEDCT_US:13213009 HP:3000001 human_phenotype owl:Class MONDO:0014068 biolink:NamedThing cone-rod dystrophy 17 A cone-rod dystrophy that has material basis in variation in the chromosome region 10q26. tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy type 17|cone-rod dystrophy 17|CORD17 UMLS:C3554610|OMIM:615163|DOID:0111023 owl:Class MONDO:0019464 biolink:NamedThing heavy chain disease Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains. tmpaxzxjjyw_mondo_relaxed.owl heavy chain disease|HCD MESH:D006362|ICD10:C88.3|SCTID:61493004|NCIT:C3082|NCIT:C3083|UMLS:C0018852|DOID:0060125|Orphanet:86864|MedDRA:10019350|NCIT:C3892|ICD9:273.2|SCTID:68979007|ICDO:9762/3|SCTID:109984001|ICD10:C88.2|EFO:1001341 owl:Class MONDO:0004959 biolink:NamedThing plasma cell neoplasm A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance. tmpaxzxjjyw_mondo_relaxed.owl plasmacytic tumor|plasmacytic tumour|plasma cell tumor, malignant|plasma cell tumor|plasma cell disorder|plasma cell dyscrasia|plasma cell neoplasm|plasma cell tumour|plasmacytic neoplasm SCTID:415111003|Orphanet:98282|MESH:D054219|NCIT:C4665|ICD9:238.6|UMLS:C1959632|DOID:6536|EFO:0000200|MESH:D010265 See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/39 owl:Class MONDO:0010988 biolink:NamedThing aplasia cutis-myopia syndrome Aplasia cutis-myopia syndrome is characterised by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl aplasia cutis myopia|Gershoni-Baruch-Leibo syndrome|aplasia cutis congenita, high myopia, and cone-rod dysfunction OMIM:601075|ICD10:Q84.8|GARD:0000756|MESH:C563394|Orphanet:1117|SCTID:720499004 https://rarediseases.info.nih.gov/diseases/756/aplasia-cutis-myopia owl:Class MONDO:0007145 biolink:NamedThing aplasia cutis congenita Aplasia cutis congenita (ACC) is a rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies. tmpaxzxjjyw_mondo_relaxed.owl aplasia cutis congenita|scalp defect congenital|aplasia cutis congenita (disease)|congenital defect of skull and scalp|aplasia cutis congenita, nonsyndromic|aplasia cutis congenita recessive|scalp defect, congenital|aplasia cutis congenita nonsyndromic|ACC aplasia cutis congenita (disease) Orphanet:1114|SCTID:35484002|GARD:0000755|NCIT:C98822|GARD:0005835|OMIM:107600|ICD9:757.39|ICD10:Q84.8|HP:0001057 owl:Class UBERON:0036375 biolink:NamedThing wall of right ureter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009916 biolink:NamedThing wall of ureter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018465 biolink:NamedThing insulin autoimmune syndrome Insulin autoimmune syndrome is a rare condition that causes low blood sugar (hypoglycemia). This occurs because the body begins to make a specific kind of protein called antibodies to attack insulin. Insulin is a naturally occurring hormone that is responsible for keeping blood sugar at a normal level. When blood sugar levels get too high, insulin helps to store the sugar for future use. People affected by insulin autoimmune syndrome have antibodies that attack insulin, causing it to work too hard and the level of blood sugar to become too low. Insulin autoimmune syndrome most often begins during adulthood. tmpaxzxjjyw_mondo_relaxed.owl insulin autoimmune hypoglycemia|Hirata disease ICD10:E16.1|ICD9:279.49|GARD:0010808|DOID:0040100|Orphanet:411593|UMLS:C0854359|SCTID:408539000 https://rarediseases.info.nih.gov/diseases/10808/insulin-autoimmune-syndrome owl:Class MONDO:0004546 biolink:NamedThing lumbar plexus neoplasm A neoplasm (disease) that involves the lumbar nerve plexus. tmpaxzxjjyw_mondo_relaxed.owl lumbar plexus neoplasms|neoplasm of lumbar plexus|tumor of lumbar plexus|neoplasm of lumbar nerve plexus|tumor of lumbar nerve plexus|lumbar nerve plexus neoplasm|neoplasm of the lumbar plexus|lumbar nerve plexus neoplasm (disease)|tumor of the lumbar plexus|lumbar nerve plexus tumor|lumbar plexus tumor UMLS:C1334437|NCIT:C5824|DOID:8389 owl:Class UBERON:0015807 biolink:NamedThing ear epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003002 biolink:NamedThing dysgerminoma A malignant germ cell tumor characterized by the presence of a monotonous primitive germ cell population. The neoplastic cells form aggregates and have an abundant pale cytoplasm and uniform nuclei. The aggregates of the germ cells are separated by fibrous septa which contain inflammatory cells, mostly T-lymphocytes. It arises primarily in the ovaries, but can occur both primarily and secondarily at other sites, particularly the central nervous system. It responds to chemotherapy and radiotherapy. Its prognosis is related to the tumor stage. tmpaxzxjjyw_mondo_relaxed.owl dysgerminoma, malignant|dysgerminoma|dysgerminoma (disease) dysgerminoma (disease) NCIT:C2996|ICDO:9060/3|UMLS:C0013377|HP:0100621|MESH:D004407|DOID:4441 owl:Class CL:0000365 biolink:NamedThing animal zygote Diploid cell produced by the fusion of sperm cell nucleus and egg cell. tmpaxzxjjyw_mondo_relaxed.owl zygote FMA:72395|BTO:0000854|EHDAA2:0004546 cell owl:Class CL:0010017 biolink:NamedThing zygote A zygote in a plant or an animal. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012815 biolink:NamedThing Coats plus syndrome Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease. tmpaxzxjjyw_mondo_relaxed.owl cerebroretinal microangiopathy with calcfications and cysts|CRMCC|cerebroretinal microangiopathy with calcifications and cysts MESH:C567401|ICD10:H35.0|ICD9:348.89|UMLS:CN282828|OMIMPS:612199|Orphanet:313838|SCTID:711482008|OMIM:617341|OMIM:612199 owl:Class MONDO:0017059 biolink:NamedThing neural tube closure defect A disease that has its basis in the disruption of neural tube closure. tmpaxzxjjyw_mondo_relaxed.owl disorder of neural tube closure|neural tube closure disease OMIM:301410|OMIM:601634|OMIM:182940|Orphanet:268357 owl:Class MONDO:0018075 biolink:NamedThing neural tube defect A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida. tmpaxzxjjyw_mondo_relaxed.owl spinal dysraphism|NTD DOID:0080074|OMIM:301410|NCIT:C84923|ICD9:742.8|MESH:D009436|OMIM:601634|Orphanet:3388|SCTID:253098009 owl:Class MONDO:0001223 biolink:NamedThing parathyroid gland disorder A disease involving the parathyroid gland. tmpaxzxjjyw_mondo_relaxed.owl parathyroid gland diseases|parathyroid disease|parathyroid gland disease|disease or disorder of parathyroid gland|disease of parathyroid glands|parathyroid gland disorders|disorder of parathyroid gland|parathyroid gland disorder|disease of parathyroid gland|parathyroid gland disease or disorder MESH:D010279|ICD9:252.9|ICD10:E21.5|ICD9:252|ICD9:252.8|EFO:0005754|DOID:11201|UMLS:C0030517|SCTID:73132005|NCIT:C26844 owl:Class MONDO:0005151 biolink:NamedThing endocrine system disorder A disease involving the endocrine system. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of endocrine system|endocrine system disease|endocrinopathy|thyroid or other glandular disorders|endocrine disease|endocrine system disorder|endocrine disorder|disorder of endocrine system|endocrine system disease or disorder|disease of endocrine system NCIT:C3009|ICD9:259.9|MESH:D004700|ICD10:E34.9|ICD9:259.8|SCTID:362969004|UMLS:C0014130|EFO:0001379|DOID:28 owl:Class MONDO:0002717 biolink:NamedThing spinal cord intramedullary teratoma tmpaxzxjjyw_mondo_relaxed.owl intramedullary spinal teratoma|intramedullary teratoma of the spinal cord|intramedullary teratoma of spinal cord|intramedullary spinal cord teratoma UMLS:C1334259|NCIT:C5428|DOID:3639 owl:Class MONDO:0021506 biolink:NamedThing benign neoplasm of spinal cord A benign neoplasm that involves the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl spinal cord neoplasm, benign|benign spinal cord tumor|benign tumor of the spinal cord|spinal cord benign neoplasm|benign spinal cord neoplasm|benign tumor of spinal cord|benign neoplasm of the spinal cord SCTID:92405007|ICD9:225.3|ICD10:D33.4|UMLS:C0154034|NCIT:C3627 owl:Class MONDO:0008222 biolink:NamedThing Andersen-Tawil syndrome Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly. tmpaxzxjjyw_mondo_relaxed.owl Potassium-sensitive cardiodysrhythmic type|periodic paralysis, Potassium-sensitive cardiodysrhythmic type|cardiodysrhythmic potassium-sensitive periodic paralysis|Andersen syndrome|Andersen cardiodysrhythmic periodic paralysis|long QT syndrome type 7|LQT7|long QT syndrome 7|ATS|Andersen-Tawil syndrome|Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features ICD10:G72.3|DOID:0050434|GARD:0009453|MESH:D050030|OMIM:170390|ICD9:759.89|NCIT:C84559|Orphanet:37553|UMLS:C1563715|SCTID:422348008 owl:Class MONDO:0011502 biolink:NamedThing Wolfram syndrome 2 Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene. tmpaxzxjjyw_mondo_relaxed.owl Wolfram syndrome caused by mutation in CISD2|CISD2 Wolfram syndrome|WFS2|Wolfram syndrome 2|WOLFRAM syndrome 2|Wolfram syndrome type 2 Orphanet:3463|UMLS:C1858028|OMIM:604928|MESH:C565733|DOID:0110630|ICD10:E13.8 owl:Class MONDO:0004164 biolink:NamedThing lymphoepithelioma-like acinar prostate adenocarcinoma A variant of prostate carcinoma characterized by the presence of malignant cells forming syncytial patterns and dense lymphocytic infiltrates. tmpaxzxjjyw_mondo_relaxed.owl lymphoepithelioma-like variant acinar prostate adenocarcinoma|acinar prostate adenocarcinoma, lymphoepithelioma-like variant NCIT:C39885|UMLS:C1515864|DOID:7246 owl:Class MONDO:0002493 biolink:NamedThing prostatic acinar adenocarcinoma An invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants. tmpaxzxjjyw_mondo_relaxed.owl acinar adenocarcinoma of prostate|prostatic acinar adenocarcinoma|acinar prostate adenocarcinoma|acinar adenocarcinoma of the prostate|prostate acinar adenocarcinoma NCIT:C5596|DOID:3024|UMLS:C1332139 owl:Class MONDO:0004091 biolink:NamedThing skin basaloid carcinoma A basaloid squamous cell carcinoma that involves the zone of skin. tmpaxzxjjyw_mondo_relaxed.owl zone of skin basaloid squamous cell carcinoma|basaloid skin squamous cell carcinoma|basaloid squamous cell skin carcinoma|skin basaloid carcinoma|skin basaloid squamous cell carcinoma NCIT:C27543|UMLS:C1335973|DOID:7049 owl:Class MONDO:0002529 biolink:NamedThing skin squamous cell carcinoma A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated. tmpaxzxjjyw_mondo_relaxed.owl cutaneous squamous cell carcinoma|epidermoid skin carcinoma|epidermoid carcinoma of the skin|zone of skin squamous cell carcinoma|squamous cell skin carcinoma|squamous cell carcinoma of the skin|squamous cell carcinoma of skin|skin squamous cell carcinoma|squamous cell carcinoma - skin|epidermoid carcinoma of skin|CSCC|skin squamous cell cancer DOID:3151|UMLS:C0553723|ONCOTREE:CSCC|EFO:1001927|NCIT:C4819|SCTID:254651007 owl:Class HGNC:18083 biolink:NamedThing TRPV4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003632 biolink:NamedThing endocervicitis Inflammation of the endocervix. tmpaxzxjjyw_mondo_relaxed.owl inflammation of endocervix|endocervix inflammation NCIT:C26762|SCTID:31354001|UMLS:C0014127|DOID:5757 owl:Class MONDO:0005424 biolink:NamedThing elephantiasis Enlargement of an area of the body due to obstruction within the lymphatic system and the resulting accumulation of lymph. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34569|DOID:4976|EFO:0004711|MESH:D004604|UMLS:C0013882 owl:Class MONDO:0019297 biolink:NamedThing lymphedema Excess fluid collection in tissues, causing swelling. It is the result of obstruction of lymphatic vessels or lymph nodes. tmpaxzxjjyw_mondo_relaxed.owl lymphatic edema (morphologic abnormality)|lymphoedema|lymphatic edema UMLS:C0024236|GARD:0012563|MedDRA:10025282|NCIT:C3207|Orphanet:79383|ICD9:457.1|SCTID:234097001|MESH:D008209|DOID:4977 owl:Class MONDO:0013889 biolink:NamedThing short stature-optic atrophy-Pelger-HuC+t anomaly syndrome tmpaxzxjjyw_mondo_relaxed.owl soph|short stature, optic nerve atrophy, and Pelger-Huet anomaly|short stature-optic atrophy-Pelger-HuC+t anomaly syndrome|short stature with optic atrophy and Pelger-Huët anomaly syndrome|short stature-optic atrophy-Pelger-Huët anomaly syndrome|soph syndrome ICD10:Q87.1|OMIM:614800|Orphanet:391677|UMLS:C3541319|GARD:0010945 owl:Class MONDO:0017392 biolink:NamedThing pre-descemet corneal dystrophy Pre-Descemet corneal dystrophy (PDCD) is a rare form of stromal corneal dystrophy characterized by focal, fine, gray opacities in the deep stroma immediately anterior to the Descemet membrane, with no effect on vision. tmpaxzxjjyw_mondo_relaxed.owl PDCD Orphanet:293462|SCTID:231934009|ICD10:H18.5|ICD9:371.56 owl:Class MONDO:0020213 biolink:NamedThing stromal corneal dystrophy The stromal corneal dystrophies refer to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal stroma, and variable effects on vision depending on the type of dystrophy. tmpaxzxjjyw_mondo_relaxed.owl corneal dystrophy (disease) of substantia propria of cornea|substantia propria of cornea corneal dystrophy (disease)|stromal dystrophy|corneal stromal dystrophy SCTID:231931001|Orphanet:98626|UMLS:C0038457|ICD10:H18.5|DOID:0060442|ICD9:371.56 owl:Class GO:0002862 biolink:NamedThing negative regulation of inflammatory response to antigenic stimulus Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. tmpaxzxjjyw_mondo_relaxed.owl down regulation of inflammatory response to antigenic stimulus|downregulation of inflammatory response to antigenic stimulus|down-regulation of inflammatory response to antigenic stimulus|inhibition of inflammatory response to antigenic stimulus owl:Class GO:0002861 biolink:NamedThing regulation of inflammatory response to antigenic stimulus Any process that modulates the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007644 biolink:NamedThing IgAD1 Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders. tmpaxzxjjyw_mondo_relaxed.owl Immunoglobulin A, selective deficiency of|IgAD1|gamma-A-globulin, selective deficiency of|IMMUNOGLOBULIN A deficiency 1|IgA, selective deficiency of UMLS:C0162538|NCIT:C123434|OMIM:137100|MESH:C536290 owl:Class MONDO:0001341 biolink:NamedThing selective IgA deficiency disease A dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class A (IgA). It is the most common primary antibody deficiency. It may be inherited or the reversible sequela of infection or certain drugs. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Though affected persons may be asymptomatic, low levels of IgA will reduce the immune system's ability to combat infection where IgA is normally secreted, at mucosal surfaces. Selective IgA deficiency is seen in greater proportion among patients with autoimmune disorders. tmpaxzxjjyw_mondo_relaxed.owl deficiencies, IgA|IgA deficiency|immunoglobulin alpha deficiency|IgA deficiencies|SIgAD|immunoglobulin A deficiency|deficiency, IgA|selective immunoglobulin A deficiency|selective IgA immunodeficiency|gamma-A-globulin deficiency DOID:11701|OMIM:609529|EFO:1001929|UMLS:C0162538|Orphanet:69127|DOID:0060025|OMIM:137100|UMLS:C4049006|MESH:D017098|OMIM:269650|SCTID:29260007|NCIT:C26964 owl:Class CHEBI:38297 biolink:NamedThing thiabicycloalkane tmpaxzxjjyw_mondo_relaxed.owl thiabicycloalkanes owl:Class CHEBI:27171 biolink:NamedThing organic heterobicyclic compound tmpaxzxjjyw_mondo_relaxed.owl heterobicyclic compounds|organic heterobicyclic compounds owl:Class MONDO:0018180 biolink:NamedThing staphylococcal scarlet fever tmpaxzxjjyw_mondo_relaxed.owl ICD10:A38|UMLS:CN204670|Orphanet:36235 owl:Class MONDO:0017592 biolink:NamedThing staphylococcal toxemia tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10041932|Orphanet:300579|UMLS:C0854511 owl:Class GO:0006355 biolink:NamedThing regulation of transcription, DNA-templated Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. tmpaxzxjjyw_mondo_relaxed.owl transcriptional control|regulation of transcription, DNA-dependent|regulation of cellular transcription, DNA-dependent|regulation of gene-specific transcription owl:Class GO:0010468 biolink:NamedThing regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpaxzxjjyw_mondo_relaxed.owl regulation of protein expression|regulation of gene product expression owl:Class HGNC:25705 biolink:NamedThing KCTD17 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007194 biolink:NamedThing familial bicuspid aortic valve A rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection). tmpaxzxjjyw_mondo_relaxed.owl AOVD1|aortic valve disease type 1|familial BAV|aortic valve disease 1 UMLS:C0428791|OMIM:614823|Orphanet:402075|Orphanet:1244|DOID:0080332|OMIM:109730|OMIMPS:109730|ICD10:Q23.1 owl:Class MONDO:0017311 biolink:NamedThing rare disease with thoracic aortic aneurysm and aortic dissection tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 ICD10:I71.2|Orphanet:285014|ICD10:I71.1|UMLS:CN202889 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: vascular disease' MONDO_0005385 owl:Class MONDO:0024878 biolink:NamedThing secondary carcinoma A carcinoma that arises from a pre-existing lower grade epithelial lesion, or as a result of a primary carcinoma that has spread to secondary sites, or due to a complication of a cancer treatment. tmpaxzxjjyw_mondo_relaxed.owl secondary carcinoma UMLS:C0085668|NCIT:C36310 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class NCBITaxon:1262365 biolink:NamedThing Tabanoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43735 biolink:NamedThing Tabanomorpha tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:2000088 biolink:NamedThing Ammon's horn basket cell Any basket cell that is part of a Ammon's horn. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-12-24T00:37:30Z cell owl:Class CL:0000118 biolink:NamedThing basket cell Basket cells are inhibitory GABAergic interneurons of the brain. In general, dendrites of basket cells are free branching and contain smooth spines. Axons are highly branched. The branched axonal arborizations give rise to basket-like structures that surround the soma of the target cell. Basket cells form axo-somatic synapses, meaning their synapses target somas of other cells. tmpaxzxjjyw_mondo_relaxed.owl https://orcid.org/0000-0002-2825-0621 cell owl:Class MONDO:0010094 biolink:NamedThing spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl congenital synspondylism|vertebral fusion with carpal coalition|scoliosis, congenital with unilateral unsegmented bar|congenital scoliosis with unilateral unsegmented bar|scoliosis, congenital, with unilateral unsegmented Bar|spondylocarpotarsal synostosis|SCT|Synspondylism, congenital|spondylocarpotarsal syndrome|Synspondylism|Synspondylism congenital|spondylocarpotarsal synostosis syndrome ICD10:Q76.4|DOID:0090116|GARD:0004974|Orphanet:3275|GARD:4974|OMIM:272460|MESH:C535780|UMLS:C1848934|SCTID:702351004|ICD9:758.89 https://rarediseases.info.nih.gov/diseases/4974/spondylocarpotarsal-synostosis-syndrome owl:Class HGNC:16966 biolink:NamedThing ZMYND11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000859 biolink:NamedThing negative regulation of aldosterone secretion Any process that stops, prevents or reduces the frequency, rate or extent of aldosterone secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000858 biolink:NamedThing regulation of aldosterone secretion Any process that modulates the frequency, rate or extent of aldosterone secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C35681 biolink:NamedThing Negative Test Result tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C77140 biolink:NamedThing Clinical Test Result tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000256 biolink:NamedThing mineral material A mineral material is an environmental material which is primarily composed of some substance that is naturally occurring, solid and stable at room temperature, representable by a chemical formula, usually abiogenic, and that has an ordered atomic structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002500 biolink:NamedThing Abnormal cerebral white matter morphology An abnormality of the cerebral white matter. tmpaxzxjjyw_mondo_relaxed.owl Cerebral white matter abnormalities|Cortical white matter abnormalities seen on MRI|Abnormality of subcortical white matter|Abnormality of the cerebral white matter|White matter abnormalities|Leukoaraiosis|White matter alterations MSH:D049292|UMLS:C0948163|UMLS:C4020851 This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. The cerebral white matter is the region of the central nervous system that consists mostly of glial cells and myelinated axons that interconnect the various regions of the cerebrum and the lower brain centers. It is located in the subcortex. HP:0200100 human_phenotype owl:Class HP:0010993 biolink:NamedThing Abnormality of the cerebral subcortex An abnormality of the cerebral subcortex. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the cerebral medulla UMLS:C4021207 The cerebral subcortex contains the basal ganglia and the cerebral white matter. peter 2011-02-09T10:32:54Z human_phenotype owl:Class HP:0001710 biolink:NamedThing Conotruncal defect A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. tmpaxzxjjyw_mondo_relaxed.owl Conotruncal heart defects UMLS:C1853238 human_phenotype owl:Class HP:0011603 biolink:NamedThing Congenital malformation of the great arteries Defect or defects of the morphogenesis of the aorta and pulmonary arteries. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0478012 peter 2012-04-08T02:51:09Z human_phenotype owl:Class MONDO:0008722 biolink:NamedThing short chain acyl-CoA dehydrogenase deficiency Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy. tmpaxzxjjyw_mondo_relaxed.owl short-chain acyl-coenzyme A dehydrogenase deficiency|SCADD|short-chain acyl-Coenzyme A dehydrogenase deficiency (SCAD)|SCAD|Scad deficiency|ACADSD|lipid-storage myopathy secondary to short-chain acyl-Coa dehydrogenase deficiency|short-chain acyl-CoA dehydrogenase deficiency|short-chain acyl-CoA dehydrogenase deficiency (SCAD)|Acads deficiency|ACADS deficiency|acyl-CoA dehydrogenase, short-chain, deficiency OF|short chain acyl-CoA dehydrogenase deficiency|SCAD deficiency|Scadh deficiency|acyl-CoA dehydrogenase, short-chain deficiency GARD:0004822|ICD10:E71.312|Orphanet:26792|NCIT:C84539|ICD10:E71.3|OMIM:201470|DOID:0080154|MESH:C537596 https://rarediseases.info.nih.gov/diseases/4822/short-chain-acyl-coa-dehydrogenase-deficiency owl:Class MONDO:0010205 biolink:NamedThing Wolman disease with hypolipoproteinemia and acanthocytosis tmpaxzxjjyw_mondo_relaxed.owl Wolman disease with hypolipoproteinemia and acanthocytosis UMLS:C1848436|MESH:C564736|OMIM:278100 owl:Class MONDO:0019148 biolink:NamedThing Wolman disease Wolman disease represents the most severe manifestation of lysosomal acid lipase deficiency. Milder phenotypes as a whole are referred to as cholesterol ester storage disease. The acid lipase enzyme plays an essential role in lysosomal hydrolysis of both esterified cholesterol and triglycerides of lipoproteic origin. In Wolman disease, the rarest form of acid lipase deficiency, these lipids accumulate in most tissues. tmpaxzxjjyw_mondo_relaxed.owl familial visceral xanthomatosis|primary familial xanthomatosis with adrenal calcification|acid esterase deficiency|primary familial xanthomatosis|Wolman's or triglyceride storage type III disease|liposomal acid lipase deficiency, Wolman type|Wolman's disease|familial xanthomatosis|deficiency of cholesterol esterase and triacylglycerol lipase|acid lipase deficiency|Wolman disease|lysosomal acid lipase deficiency|xanthomatosis, familial|Wolman xanthomatosis MedDRA:10053687|SCTID:82500001|UMLS:CN438428|UMLS:C0043208|Orphanet:75233|NCIT:C61271|MESH:D015223|GARD:0007899|SCTID:238074007|DOID:14497|ICD10:E75.5|OMIM:278000 owl:Class MONDO:0007415 biolink:NamedThing mitochondrial complex III deficiency nuclear type 1 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene. tmpaxzxjjyw_mondo_relaxed.owl Complex 3 mitochondrial respiratory chain deficiency|BCS1L mitochondrial complex III deficiency|mitochondrial Complex 3 deficiency, nuclear type 1|mitochondrial complex III deficiency caused by mutation in BCS1L|MC3DN1|mitochondrial complex III deficiency, nuclear type 1|mitochondrial complex III deficiency OMIM:124000|GARD:0008295|DOID:0080111|MESH:C565128|Orphanet:1460|Orphanet:254902 https://rarediseases.info.nih.gov/diseases/8295/mitochondrial-complex-iii-deficiency owl:Class MONDO:0020811 biolink:NamedThing mitochondrial complex III deficiency, nuclear type tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:124000 owl:Class NCBITaxon:33154 biolink:NamedThing Opisthokonta tmpaxzxjjyw_mondo_relaxed.owl Fungi/Metazoa group|opisthokonts GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2759 biolink:NamedThing Eukaryota tmpaxzxjjyw_mondo_relaxed.owl Eukaryotae|eukaryotes|eucaryotes|Eucarya|Eucaryotae|Eukarya PMID:23020233|PMID:30257078|GC_ID:1 ncbi_taxonomy owl:Class GO:1903012 biolink:NamedThing positive regulation of bone development Any process that activates or increases the frequency, rate or extent of bone development. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of bone development|activation of bone development|upregulation of bone development|up regulation of bone development owl:Class CHEBI:48560 biolink:NamedThing dopaminergic agent A drug used for its effects on dopamine receptors, on the life cycle of dopamine, or on the survival of dopaminergic neurons. tmpaxzxjjyw_mondo_relaxed.owl dopamine agent|dopamine agents|dopamine drugs|dopaminergic agents|dopamine drug owl:Class CHEBI:35942 biolink:NamedThing neurotransmitter agent A substance used for its pharmacological action on any aspect of neurotransmitter systems. Neurotransmitter agents include agonists, antagonists, degradation inhibitors, uptake inhibitors, depleters, precursors, and modulators of receptor function. tmpaxzxjjyw_mondo_relaxed.owl neurotransmitter agents owl:Class OBO:CHR_9606-chr6p biolink:NamedThing 6p (Human) tmpaxzxjjyw_mondo_relaxed.owl 59800000 0 hg38 owl:Class MONDO:0020571 biolink:NamedThing relapsing epidemic typhus tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207497|Orphanet:99991|ICD10:A75.0 owl:Class MONDO:0019362 biolink:NamedThing epidemic louse-borne typhus A gram-negative bacterial infection caused by Rickettsia prowazekii. It is spread by lice infected with the bacteria. Signs and symptoms include sudden headache, generalized muscle pain, malaise, and macular skin lesions. The infection may affect the central nervous system causing encephalitis. tmpaxzxjjyw_mondo_relaxed.owl epidemic typhus|typhus|epidemic typhus fever|epidemic louse-borne typhus|sylvatic typhus NCIT:C84689|Orphanet:83314|DOID:0050480|MedDRA:10014979|ICD10:A75.0 owl:Class MONDO:0004660 biolink:NamedThing lung carcinoma in situ A carcinoma in situ involving a lung. tmpaxzxjjyw_mondo_relaxed.owl stage 0 lung cancer aJCC v6|stage 0 lung cancer aJCC v7|lung in situ carcinoma|bronchial carcinoma in situ|carcinoma in situ of lung|stage 0 lung cancer aJCC v6 and v7|stage 0 lung carcinoma|stage 0 lung cancer UMLS:C0685053|NCIT:C27467|ICD9:231.2|ICD10:D02.2|SCTID:92649001|DOID:8800 owl:Class MONDO:0005138 biolink:NamedThing lung carcinoma A carcinoma that arises from epithelial cells of the lung tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the lung|lung cancer, NOS|cancer of lung|lung cancer|cancer of the lung|lung carcinoma|carcinoma of lung DOID:3905|NCIT:C4878|ICD10:C34.90|OMIM:211980|MESH:D008175|UMLS:C0684249|EFO:0001071 owl:Class HGNC:12668 biolink:NamedThing VCY tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009090 biolink:NamedThing hearing loss, sensorineural, autosomal-mitochondrial type tmpaxzxjjyw_mondo_relaxed.owl deafness, sensorineural, autosomal-mitochondrial type DOID:0111752|Orphanet:90641|MESH:C565637|OMIM:221745 owl:Class MONDO:0010779 biolink:NamedThing mitochondrial non-syndromic sensorineural hearing loss tmpaxzxjjyw_mondo_relaxed.owl mitochondrial non-syndromic sensorineural deafness|isolated mitochondrial sensorineural deafness|deafness, isolated, due to mitochondrial transmission|mitochondrial non-syndromic neurosensory deafness|deafness, nonsyndromic sensorineural, mitochondrial|isolated mitochondrial neurosensory deafness OMIM:500008|OMIM:221745|ICD10:H90.3|GARD:0001709|Orphanet:90641|DOID:0111751 owl:Class MONDO:0022985 biolink:NamedThing diffuse cavernous hemangioma of the rectum tmpaxzxjjyw_mondo_relaxed.owl cavernous haemangioma of the rectum GARD:0010750 https://rarediseases.info.nih.gov/diseases/10750/diffuse-cavernous-hemangioma-of-the-rectum owl:Class MONDO:0021462 biolink:NamedThing benign neoplasm of rectum A benign neoplasm that involves the rectum. tmpaxzxjjyw_mondo_relaxed.owl rectal neoplasms, benign|rectum benign neoplasm|rectal tumors, benign|benign rectal tumor|benign tumor of the rectum|benign tumor of rectum|benign rectal neoplasms|benign rectal neoplasm|benign neoplasm of the rectum|benign rectal tumors SCTID:92318000|UMLS:C0496867|NCIT:C4774|ICD10:D12.8 owl:Class MONDO:0014808 biolink:NamedThing congenital secretory sodium diarrhea 8 Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene. tmpaxzxjjyw_mondo_relaxed.owl diarrhea, congenital sodium|DIAR8|secretory diarrhea caused by mutation in SLC9A3|SLC9A3 secretory diarrhea|diarrhea 8, secretory sodium, congenital|congenital secretory sodium diarrhea type 8 Orphanet:103908|UMLS:CN515063|DOID:0060777|ICD10:P78.3|OMIM:616868 owl:Class GO:0150063 biolink:NamedThing visual system development The process whose specific outcome is the progression of the visual system over time, from its formation to the mature structure, including the eye, parts of the central nervous system (CNS) involved in processing of visual inputs, and connecting nerve pathways. tmpaxzxjjyw_mondo_relaxed.owl visual pathway development|optic pathway development owl:Class GO:0048880 biolink:NamedThing sensory system development The process whose specific outcome is the progression of a sensory system over time from its formation to the mature structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051272 biolink:NamedThing positive regulation of cellular component movement Any process that activates or increases the frequency, rate or extent of the movement of a cellular component. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cellular component motion owl:Class GO:0051270 biolink:NamedThing regulation of cellular component movement Any process that modulates the frequency, rate or extent of the movement of a cellular component. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular component motion|regulation of cell movement owl:Class MONDO:0012555 biolink:NamedThing Cornelia de Lange syndrome 3 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene. tmpaxzxjjyw_mondo_relaxed.owl Cornelia de Lange syndrome 3|Smc3 Cornelia de Lange syndrome|Cornelia de Lange syndrome caused by mutation in Smc3|Cornelia DE Lange syndrome 3|SMC3 Cornelia de Lange syndrome|CDLS3|Cornelia De Lange syndrome type 3|Cornelia de Lange syndrome caused by mutation in SMC3 OMIM:610759|DOID:0080507|Orphanet:199|UMLS:C1853099 owl:Class MONDO:0003427 biolink:NamedThing bronchus adenoma A benign lung neoplasm characterized by the presence of a fibrovascular stroma lined by cuboidal to columnar cells. Patients are usually asymptomatic and it is incidentally discovered as a pulmonary nodule during chest X-ray examination. Surgical excision is curative. tmpaxzxjjyw_mondo_relaxed.owl lung papillary adenoma|adenoma of bronchus|type II pneumocyte adenoma|papillary adenoma of type II pneumocytes|bronchial adenoma|bronchus adenoma|adenoma, bronchial, benign|adenoma of the bronchus|peripheral papillary tumor of type II pneumocytes|bronchial adenoma NOS (morphologic abnormality) DOID:5391|NCIT:C3494|ICDO:8260/0|UMLS:C0149845 owl:Class MONDO:0004511 biolink:NamedThing lower clivus meningioma A meningioma that affects the lower clivus. tmpaxzxjjyw_mondo_relaxed.owl meningioma of the lower clivus|meningioma of Lower clivus NCIT:C5288|DOID:8239|UMLS:C1334434 owl:Class MONDO:0003908 biolink:NamedThing clivus meningioma A meningioma that affects the clivus. tmpaxzxjjyw_mondo_relaxed.owl meningioma (disease) of clivus of occipital bone|meningioma of the clivus|clivus of occipital bone meningioma (disease)|meningioma of clivus UMLS:C1333073|DOID:6517|NCIT:C5289 owl:Class MONDO:0000645 biolink:NamedThing fallopian tube benign neoplasm A non-metastasizing neoplasm that arises from the fallopian tube. Representative examples include papilloma, adenofibroma, and leiomyoma. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube tumor, benign|fallopian tube benign neoplasm|benign fallopian tube tumor|benign tumor of fallopian tube|fallopian tube neoplasm, benign|benign fallopian tube neoplasm|benign tumor of the fallopian tube|benign neoplasm of fallopian tube|benign tumor of fallopian tubes|benign neoplasm of the fallopian tube UMLS:C0346190|DOID:0060111|MedDRA:10053865|SCTID:92100009|Orphanet:180237|NCIT:C4517|ICD10:D28.2 owl:Class HGNC:7315 biolink:NamedThing MS4A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003061 biolink:NamedThing benign muscle neoplasm A benign mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle tissue. tmpaxzxjjyw_mondo_relaxed.owl myomatous tumor|muscle neoplasm|benign neoplasm of muscle|benign muscle tumor|benign muscle neoplasm|benign neoplasm of the muscle|benign tumor of the muscle|muscle tissue neoplasm|muscle benign neoplasm|myoma|benign tumor of muscle NCIT:C4882|NCIT:C4063|ICDO:8895/0|ICD10:D21|DOID:2691|MESH:D009214|DOID:461|MESH:D009379 MONDO:0002393 owl:Class MONDO:0021545 biolink:NamedThing myomatous neoplasm A benign or malignant mesenchymal neoplasm arising from smooth, skeletal, or cardiac muscle. tmpaxzxjjyw_mondo_relaxed.owl myoblastomas|muscle tissue neoplasm|tumor of the muscle|muscle tissue neoplasms|myofibroblastoma|muscle tumor|myofibroblastomas|tumor of muscle|myoblastoma|neoplasm of the muscle|neoplasm, muscle tissue|myomatous tumor|muscle neoplasm|myomatous neoplasm|neoplasm of muscle MESH:D019042|MESH:D009379|NCIT:C4063 owl:Class MONDO:0045001 biolink:NamedThing cardiac ventricle disorder A disease or disorder that involves the cardiac ventricle. tmpaxzxjjyw_mondo_relaxed.owl cardiac ventricle disease or disorder|disease or disorder of cardiac ventricle|cardiac ventricle disease|disease of cardiac ventricle|disorder of cardiac ventricle SCTID:415991003|UMLS:C1562298 owl:Class UBERON:0011978 biolink:NamedThing epiphysis of middle phalanx of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001437 biolink:NamedThing epiphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009464 biolink:NamedThing immunodeficiency with defective T-cell response to interleukin 1 tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency with defective T-cell response to Interleukin type 1|Interleukin 1, defective T-cell response to|immunodeficiency with defective T-cell response to interleukin 1 UMLS:C1855735|OMIM:243110 owl:Class GO:1903564 biolink:NamedThing regulation of protein localization to cilium Any process that modulates the frequency, rate or extent of protein localization to cilium. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000931 biolink:NamedThing proctodeum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016566 biolink:NamedThing pit tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0700026 biolink:NamedThing chromosome 22 disorder Chromosomal disorder in which chromosome 22 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0000460 biolink:NamedThing major vestibular gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022977 biolink:NamedThing diaphragmatic hernia exomphalos corpus callosum agenesis tmpaxzxjjyw_mondo_relaxed.owl GARD:0001846 https://rarediseases.info.nih.gov/diseases/1846/diaphragmatic-hernia-exomphalos-corpus-callosum-agenesis owl:Class MONDO:0009697 biolink:NamedThing Lafora disease Lafora disease (LD) is a rare, inherited, severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), and progressive neurological decline. tmpaxzxjjyw_mondo_relaxed.owl epilepsy progressive myoclonic 2|progressive myoclonic epilepsy type 2|progressive myoclonus epilepsy type 2|PME type 2|Lafora disease|Melf|EPM2|myoclonic epilepsy of Lafora|Lafora progressive myoclonic epilepsy|Lafora body disorder|epilepsy, progressive myoclonic, 2A|Epm2|Lafora's disease|epilepsy, progressive myoclonic, 2B|Lafora body disease OMIM:254780|ICD10:G40.3|Orphanet:501|MedDRA:10054030|DOID:3534|GARD:0008214|SCTID:230425004|UMLS:C0751783|MESH:D020192|NCIT:C84804 https://rarediseases.info.nih.gov/diseases/8214/lafora-disease owl:Class ECTO:9000049 biolink:NamedThing exposure to carbon dioxide An exposure to carbon dioxide. tmpaxzxjjyw_mondo_relaxed.owl exposure to carbon dioxide owl:Class GO:2000253 biolink:NamedThing positive regulation of feeding behavior Any process that activates or increases the frequency, rate or extent of feeding behavior. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of feeding behaviour|positive regulation of behavioural response to food|positive regulation of drinking|positive regulation of eating|positive regulation of behavioral response to food owl:Class MONDO:0008589 biolink:NamedThing tremor of intention, ataxia, and lipofuscinosis tmpaxzxjjyw_mondo_relaxed.owl tremor of intention, ataxia, and lipofuscinosis UMLS:C1860872|OMIM:190200|MESH:C566038 owl:Class MONDO:0007933 biolink:NamedThing vitelliform macular dystrophy 1 tmpaxzxjjyw_mondo_relaxed.owl macular dystrophy, vitelliform, 1|vitelliform macular dystrophy, atypical|VMD1|macular dystrophy, atypical vitelliform Orphanet:99000|OMIM:153840|MESH:C537832|GARD:0010120 owl:Class MONDO:0011979 biolink:NamedThing adult-onset foveomacular vitelliform dystrophy Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region. tmpaxzxjjyw_mondo_relaxed.owl foveomacular dystrophy, adult-onset, with choroidal neovascularization|VMD3|pseudo-Best disease|macular dystrophy, vitelliform, 3|macular dystrophy, vitelliform, adult-onset|adult-onset foveomacular dystrophy|adult-onset vitelliform macular dystrophy|Gass disease|foveomacular dystrophy, adult-onset; AOFMD|macular dystrophy, vitelliform, type 3|AOFMD|adult-onset foveomacular dystrophy with choroidal neovascularization|pseudo-vitelliform macular dystrophy|AVMD ICD10:H35.5|SCTID:232049001|OMIM:616151|GARD:0010909|Orphanet:99000|UMLS:C1842914|OMIM:608161|OMIM:153840|OMIM:616152 owl:Class MONDO:0007715 biolink:NamedThing hemolytic poikilocytic anemia due to reduced ankyrin binding sites tmpaxzxjjyw_mondo_relaxed.owl hemolytic poikilocytic anemia due to reduced ankyrin binding sites OMIM:141700|MESH:C564197|UMLS:C1841622 owl:Class UBERON:0002265 biolink:NamedThing olfactory tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007702 biolink:NamedThing tract of brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024614 biolink:NamedThing neurotic depression A term used for any state of depression that is not psychotic. tmpaxzxjjyw_mondo_relaxed.owl neurotic depression NCIT:C35369 owl:Class MONDO:0008565 biolink:NamedThing familial thyroglossal duct cyst Familial thyroglossal duct cyst (TDC) is a very rare inherited form of TDC characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck. tmpaxzxjjyw_mondo_relaxed.owl thyroglossal duct cyst, familial|thyroglossal duct cysts familial|thyroglossal duct cysts|hereditary thyroglossal duct cyst|hereditary thyroglossal duct cysts ICD10:Q89.2|UMLS:C3495590|MESH:C536909|OMIM:188455|Orphanet:93953|SCTID:717331000|GARD:0005204 https://rarediseases.info.nih.gov/diseases/5204/familial-thyroglossal-duct-cyst owl:Class MONDO:0011418 biolink:NamedThing dyslexia, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl dyslexia, susceptibility to, 3|DYX3 OMIM:604254 owl:Class HGNC:8857 biolink:NamedThing PEX16 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015643 biolink:NamedThing photosensitive epilepsy An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. tmpaxzxjjyw_mondo_relaxed.owl photogenic epilepsy|photoparoxysmal response|PSE Orphanet:166409|SCTID:95208000|OMIM:132100|OMIM:609573|OMIM:609572|OMIMPS:132100|ICD10:G40.8|GARD:0005648|ICD9:345.80|DOID:0060281|UMLS:C0393720 https://rarediseases.info.nih.gov/diseases/5648/photosensitive-epilepsy owl:Class MONDO:0023224 biolink:NamedThing inherited reflex epilepsy An instance of reflex epilepsy that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary reflex epilepsy GARD:0002455 owl:Class GO:0046952 biolink:NamedThing ketone body catabolic process The chemical reactions and pathways resulting in the breakdown of ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone. Ketone bodies can be used as an energy source as an alternative to glucose. Utilization of ketone bodies in peripheral tissues involves conversion of acetoacetate to acetoacetyl-CoA, which is then converted to two molecules of acetyl-CoA. tmpaxzxjjyw_mondo_relaxed.owl ketone body catabolism|ketone body degradation|ketolysis|ketone body breakdown|utilization of ketone bodies owl:Class MONDO:0003316 biolink:NamedThing nonanaplastic kidney Wilms tumor Wilms tumor of the kidney characterized by the absence of nuclear anaplasia. tmpaxzxjjyw_mondo_relaxed.owl Nonanaplastic renal Wilm's tumor|nonanaplastic renal Wilms tumor|Nonanaplastic renal Wilms' tumor|Nonanaplastic kidney Wilms tumor|Nonanaplastic renal Wilms tumor UMLS:C1335062|NCIT:C6951 owl:Class MONDO:0025129 biolink:NamedThing swine erysipelas An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa. tmpaxzxjjyw_mondo_relaxed.owl erysipelas, swine UMLS:C0039007|MESH:D013554 owl:Class MONDO:0024990 biolink:NamedThing swine disease Diseases of domestic swine and of the wild boar of the genus Sus. tmpaxzxjjyw_mondo_relaxed.owl diseases, swine|swine disease|disease, swine MESH:D013553|UMLS:C0039006 owl:Class GO:0031948 biolink:NamedThing positive regulation of glucocorticoid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. tmpaxzxjjyw_mondo_relaxed.owl upregulation of glucocorticoid biosynthetic process|activation of glucocorticoid biosynthetic process|up-regulation of glucocorticoid biosynthetic process|up regulation of glucocorticoid biosynthetic process|stimulation of glucocorticoid biosynthetic process owl:Class GO:0031946 biolink:NamedThing regulation of glucocorticoid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:04000003 biolink:NamedThing concentration of carbon dioxide in soil The concentration of carbon dioxide when measured in soil. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0000033 biolink:NamedThing concentration of A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance. tmpaxzxjjyw_mondo_relaxed.owl concentration owl:Class CHEBI:76738 biolink:NamedThing EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on peroxide as donors (EC 1.11.*.*). tmpaxzxjjyw_mondo_relaxed.owl EC 1.11.* (oxidoreductases acting on peroxide as donors) inhibitor|oxidoreductase acting on peroxide as donors (EC 1.11.*) inhibitors|EC 1.11.* (oxidoreductases acting on peroxide as donors) inhibitors|oxidoreductases acting on peroxide as donors (EC 1.11.*) inhibitor|EC 1.11.* inhibitors|oxidoreductase acting on peroxide as donors (EC 1.11.*) inhibitor|EC 1.11.* (oxidoreductase acting on peroxide as donors) inhibitors|oxidoreductases acting on peroxide as donors (EC 1.11.*) inhibitors|EC 1.11.* inhibitor owl:Class MONDO:0004621 biolink:NamedThing upper lip cancer A malignant neoplasm involving the upper lip. tmpaxzxjjyw_mondo_relaxed.owl cancer of upper lip|upper lip cancer|malignant neoplasm of upper lip|malignant upper lip neoplasm ICD10:C00.0|ICD10:C00.3|ICD9:140.3|DOID:8630|ICD9:140.0 owl:Class MONDO:0006834 biolink:NamedThing lip cancer A primary or metastatic malignant neoplasm involving the lip. tmpaxzxjjyw_mondo_relaxed.owl lip cancer|malignant neoplasm of lower lip, inner aspect|malignant Lip neoplasm|malignant tumor of Lip|malignant neoplasm of lip, external|malignant neoplasm of lip, unspecified|malignant neoplasm of lip, unspecified, inner aspect|malignant neoplasm of lower lip, oral aspect|malignant neoplasm of lower lip, buccal aspect|malignant neoplasm of lip, unspecified, vermilion border|malignant neoplasm of lip, inner aspect|malignant neoplasm of lip|malignant lip neoplasm|malignant neoplasm of the Lip|malignant tumor of the Lip|malignant tumor of commissure of lip|malignant tumor of labial mucosa|malignant neoplasm of Lip|malignant neoplasm of vermilion border of lip|malignant neoplasm of other sites of lip|malignant neoplasm of commissure of lip|malignant neoplasm of oral aspect of lip, not specified whether upper or lower|malignant tumour of labial commissure|malignant Lip tumor|malignant tumor of lower labial mucosa|malignant neoplasm of external Lip, not specified as upper or lower|malignant neoplasm of lower lip, mucosa|malignant tumour of lip|malignant neoplasm of labial commissure of lip|cancer of lip|malignant neoplasm of lip, vermilion border ICD9:140.8|ICD9:140.6|ICD9:140.5|NCIT:C7485|SCTID:187622006|ICD10:C00|DOID:8564|EFO:1001019|MedDRA:10007089|MESH:D008048|ICD9:140|ICD10:C00.9 owl:Class MONDO:0007041 biolink:NamedThing apert syndrome Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly. tmpaxzxjjyw_mondo_relaxed.owl acrocephalosyndactyly type 1|type I Acrocephalosyndactyly|Vogt Cephalodactyly|acrocephalosyndactyly type I|ACS 1|acrocephalosyndactyly, type 2|acrocephalo-syndactyly type 1|syndactylic oxycephaly|ACS 2|apert syndrome|ACS1|apert-Crouzon disease|acrocephalosyndactyly, type 1 NCIT:C99099|ICD10:Q87.0|Orphanet:87|UMLS:C0001193|MESH:D000168|OMIM:101200|GARD:0005833|MedDRA:10002943|SCTID:205258009 owl:Class HP:0033401 biolink:NamedThing Tissue ischemia Ischemia is defined as a restriction of arterial blood supply to a tissue associated with insufficient oxygenation to support the metabolis requirements of the tissue. Depending on the involved tissues, clinical manifestations may include pain, pallor, lack of pulse, coldness, paresthesia, and paralysis. Additional associated manifestations include hemodynamic parameters (reduced blood pressure distal to the site of restricted arterial supply) and angiographic evidence of arterial occclusion. tmpaxzxjjyw_mondo_relaxed.owl 2021-01-09 15:02:58+00:00 peter human_phenotype owl:Class MONDO:0007875 biolink:NamedThing Larsen syndrome Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. tmpaxzxjjyw_mondo_relaxed.owl Larsen syndrome|autosomal dominant Larsen syndrome|LRS|dominant Larsen syndrome SCTID:63387002|ICD10:Q74.8|DOID:14764|GARD:0006860|Orphanet:503|ICD9:759.89|OMIM:150250|MESH:C580241|UMLS:C0175778 https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome owl:Class OBO:CARO_0000007 biolink:NamedThing immaterial anatomical entity tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001000 biolink:NamedThing environmental system determined by an organism An environmental system which is determined by a living organism. tmpaxzxjjyw_mondo_relaxed.owl host-associated environment owl:Class MONDO:0009708 biolink:NamedThing myopathy, myosin storage, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl myopathy, hyaline body, autosomal recessive|MSMB|myopathy, myosin storage, autosomal recessive MESH:C564970|OMIM:255160|Orphanet:53698|UMLS:C1850709|DOID:0111268 owl:Class MONDO:0018889 biolink:NamedThing hyaline body myopathy tmpaxzxjjyw_mondo_relaxed.owl myosin storage myopathy ICD10:G71.2|OMIM:255160|DOID:0111267|Orphanet:53698|GARD:0007148|OMIM:608358 owl:Class MONDO:0011015 biolink:NamedThing cataract 24 A cataract that has material basis in variation in the region 17p13. tmpaxzxjjyw_mondo_relaxed.owl cataract 24, anterior polar|cataract, anterior polar, 2|cataract type 24|CTAA2|cataract 24|CTRCT24|anterior polar cataract 2|anterior polar cataract 24 Orphanet:98988|MESH:C537774|Orphanet:91492|OMIM:601202|UMLS:C1832609|ICD10:Q12.0|DOID:0110257 owl:Class MONDO:0020373 biolink:NamedThing early-onset anterior polar cataract tmpaxzxjjyw_mondo_relaxed.owl early-onset anterior subcapsular cataract|cataract anterior polar OMIM:601202|UMLS:C1855179|GARD:0001140|ICD10:Q12.0|Orphanet:98988 owl:Class MONDO:0012634 biolink:NamedThing craniofacial dysplasia - osteopenia syndrome tmpaxzxjjyw_mondo_relaxed.owl HMMS|hypertelorism, Severe, with midface prominence, myopia, mental retardation, and bone fragility|Hamamy syndrome|HAMAMY syndrome|hypertelorism, Severe, with midface prominence, myopia, intellectual disability, and bone fragility MESH:C566988|Orphanet:314555|OMIM:611174|UMLS:C1970027 owl:Class CHEBI:28024 biolink:NamedThing cyanic acid tmpaxzxjjyw_mondo_relaxed.owl nitridooxocarbonic acid|Zyansaeure|hydrogen nitridooxocarbonate|[C(N)OH]|Cyanic acid|Cyansaeure|HOCN|hydroxidonitridocarbon owl:Class CHEBI:64708 biolink:NamedThing one-carbon compound An organic molecular entity containing a single carbon atom (C1). tmpaxzxjjyw_mondo_relaxed.owl one-carbon compounds owl:Class UBERON:0005384 biolink:NamedThing nasal cavity epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00002239 biolink:NamedThing shrimp food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001792 biolink:NamedThing crustacean food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901738 biolink:NamedThing regulation of vitamin A metabolic process Any process that modulates the frequency, rate or extent of vitamin A metabolic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of vitamin A metabolism owl:Class MONDO:0009626 biolink:NamedThing pseudo-TORCH syndrome Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. tmpaxzxjjyw_mondo_relaxed.owl Baraitser-Brett-Piesowicz syndrome|microcephaly-intracranial calcification-intellectual disability syndrome|microcephaly - intracranial calcification - intellectual disability|Baraitser Brett Piesowicz syndrome|band-like calcification with simplified gyration and polymicrogyria|pseudo-TORCH syndrome|bilateral band-like calcification with polymicrogyria|Baraitser-Reardon syndrome|microcephaly intracranial calcification|BLC-PMG|congenital intrauterine infection-like syndrome|BLCPMG DOID:0050656|GARD:0012426|UMLS:C3489725|SCTID:722390006|GARD:0000815|Orphanet:1229|OMIMPS:251290|ICD10:Q87.8 owl:Class MONDO:0005411 biolink:NamedThing gallbladder cancer A malignant neoplasm involving the gall bladder tmpaxzxjjyw_mondo_relaxed.owl cancer of gall bladder|malignant gallbladder tumor|malignant tumor of gallbladder|malignant gallbladder neoplasm|malignant tumour of gallbladder|tumor of the gallbladder|malignant neoplasm of the gallbladder|gallbladder Ca|gall bladder cancer|localized malignant gallbladder neoplasm|malignant neoplasm of gall bladder|malignant gall bladder neoplasm|gallbladder neoplasm|malignant neoplasm of gallbladder|malignant tumor of the gallbladder NCIT:C3048|EFO:0004606|ICD9:156.8|NCIT:C7481|ICD9:156.0|UMLS:C0153452|DOID:3121|ONCOTREE:GBC|SCTID:363353009|UMLS:C0016978|ICD10:C23|GARD:0009328 owl:Class MONDO:0010576 biolink:NamedThing X-linked mixed hearing loss with perilymphatic gusher X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss. tmpaxzxjjyw_mondo_relaxed.owl DFN3|deafness, mixed, with perilymphatic gusher|deafness 3 conductive with stapes fixation|high frequency deafness|deafness 3, conductive, with stapes fixation|perilymphatic gusher-deafness syndrome|X-linked mixed conductive and neurosensory deafness|deafness mixed with perilymphatic gusher|central hearing loss|DFN 3 nonsyndromic hearing loss and deafness|X-linked mixed conductive and sensorineural deafness|sensorineural deafness|perceptive hearing loss or deafness|deafness, X-linked 2|perceptive hearing loss|high-frequency hearing loss|DFNX2|Nance deafness|deafness, conductive, with stapes fixation|deafness mixed with perilymphatic gusher, X-linked|sensorineural hearing loss|X-linked mixed conductive and neurosensory hearing loss|high frequency hearing loss|sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear|conductive deafness with stapes fixation|X-linked stapes gusher syndrome|X-linked mixed deafness with perilymphatic gusher|deafness conductive with stapes fixation|gusher syndrome|deafness, X-linked type 2|perceptive deafness|sensory hearing loss|X-linked deafness type 2|X-linked mixed conductive and sensorineural hearing loss MedDRA:10040016|ICD10:H90.8|OMIM:304400|ICD10:H90.5|DOID:10003|EFO:1001176|GARD:0004504|Orphanet:383|UMLS:C1844678|ICD10:H91.9|ICD9:389.14|ICD9:389.1|GARD:0001694|MESH:D006319|ICD9:389.10 owl:Class UBERON:0004288 biolink:NamedThing skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012980 biolink:NamedThing endocrine-cerebro-osteodysplasia syndrome Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality. tmpaxzxjjyw_mondo_relaxed.owl ECO syndrome|ECO|endocrine-CEREBROOSTEODYSPLASIA UMLS:C4509819|OMIM:612651|Orphanet:199332|UMLS:C2675227|ICD10:Q87.8|SCTID:723309006|DOID:0060641|MESH:C567210 owl:Class MONDO:0043009 biolink:NamedThing genetic lethal multiple congenital anomalies/dysmorphic syndrome An instance of lethal multiple congenital anomalies/dysmorphic syndrome that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary lethal multiple congenital anomalies/dysmorphic syndrome Orphanet:471383 owl:Class MONDO:0010787 biolink:NamedThing Kearns-Sayre syndrome Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block. tmpaxzxjjyw_mondo_relaxed.owl CPEO with ragged red fibers|mitochondrial Cytopathy|Kearns-Sayre syndrome|KSS|ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy|CPEO with myopathy|ophthalmoplegia, progressive external, with ragged red fibers|chronic progressive external ophthalmoplegia with myopathy|ophthalmoplegia-plus syndrome|ophthalmoplegia plus syndrome|CPEO with ragged-Red fibers|ophthalmoplegia, progressive external, with ragged-Red fibers|oculocraniosomatic syndrome UMLS:C0022541|OMIM:530000|ICD10:H49.8|Orphanet:480|SCTID:25792000|ICD10:H49.81|NCIT:C84798|DOID:12934|MedDRA:10048804|GARD:0006817|MESH:D007625 https://rarediseases.info.nih.gov/diseases/6817/kearns-sayre-syndrome owl:Class HGNC:4232 biolink:NamedThing GDNF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009156 biolink:NamedThing ectrodactyly-polydactyly syndrome A rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982. tmpaxzxjjyw_mondo_relaxed.owl ectrodactyly-polydactyly|ectrodactyly polydactyly ICD10:Q74.8|MESH:C565601|OMIM:225290|GARD:0002068|UMLS:C1857040|Orphanet:1892 https://rarediseases.info.nih.gov/diseases/2068/ectrodactyly-polydactyly owl:Class CL:0001200 biolink:NamedThing lymphocyte of B lineage, CD19-positive A lymphocyte of B lineage that is CD19-positive. tmpaxzxjjyw_mondo_relaxed.owl Types of B lineage lymphocytes include B cells and antibody secreting cells (plasmablasts and plasma cells). Lymphocytes of B cell lineage can be distinguished from those of T cell lineage by their lack of CD3e (as part of the T cell receptor complex). https://orcid.org/0000-0001-9990-8331 cell owl:Class CL:0000945 biolink:NamedThing lymphocyte of B lineage A lymphocyte of B lineage with the commitment to express an immunoglobulin complex. tmpaxzxjjyw_mondo_relaxed.owl Types of B lineage lymphocytes include B cells and antibody secreting cells (plasmablasts and plasma cells). Lymphocytes of B cell lineage can be distinguished from those of T cell lineage by their lack of CD3e (as part of the T cell receptor complex). cell owl:Class MONDO:0007295 biolink:NamedThing childhood epilepsy with centrotemporal spikes A childhood-onset epilepsy syndrom that is characterized by onset of seizures between 3 and 14 years (peak 8-9 years) that usually resolve by age 13 years, but can occasionally occur up to age 18 years of age. Both sexes are affected. Antecedent, birth and neonatal history is normal. A history of febrile seizure (in 5-15%) may be seen. A history of Panayiotopoulos syndrome may be present in a very small number of cases. Neurological exam and head size is normal. Development and cognition prior to onset of seizures is normal. During the course of the active epilepsy, behavioral and neuropsychological deficits may be found, particularly in language and executive functioning. These deficits improve when seizures remit. tmpaxzxjjyw_mondo_relaxed.owl benign Rolandic epilepsy of childhood (BREC)|Rolandic epilepsy|benign epilepsy with centro-temporal spikes (BECTS)|benign childhood epilepsy with centrotemporal spike|benign Rolandic epilepsy (BRE)|BCECTS|BRE|benign familial epilepsy of childhood with rolandic spikes|centrotemporal epilepsy|benign epilepsy of childhood with centrotemporal spikes|sylvan seizures|benign childhood epilepsy with centrotemporal spikes|temporal-central focal epilepsy|centralopathic epilepsy|benign epilepsy with centrotemporal spikes|BECTS|benign Rolandic epilepsy|benign epilepsy of childhood with centrotemporal spikes (BECCT)|BECRS OMIM:117100|NCIT:C116538|ICD10:G40.0|GARD:0010287|OMIM:245570|SCTID:44145005|UMLS:C2363129|ICD9:345.80|Orphanet:1945|UMLS:CN200685|UMLS:C0376532|DOID:3329 Childhood epilepsy with centrotemporal spikes, atypical childhood epilepsy with centrotemporal spikes, epileptic encephalopathy with continuous spike-and-wave during sleep and Landau Kleffner syndrome are syndromes that have in common certain EEG features, with variable severity of focal seizures and neurocognitive impairment. They may be considered as a spectrum, an individual child may transition from one of these syndromes to another over time. https://github.com/monarch-initiative/mondo/issues/2545|https://epilepsydiagnosis.org/syndrome/ects-overview.html|https://rarediseases.info.nih.gov/diseases/10287/benign-rolandic-epilepsy-bre owl:Class OBO:CHR_9606-chr14q11.2 biolink:NamedThing 14q11.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 24100000 18200000 hg38 owl:Class UBERON:0005795 biolink:NamedThing embryonic uterus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003708 biolink:NamedThing extrahepatic bile duct small cell adenocarcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the extrahepatic bile ducts. It is characterized by the presence of malignant small cells. tmpaxzxjjyw_mondo_relaxed.owl small cell extrahepatic bile duct neuroendocrine carcinoma|small cell adenocarcinoma of extrahepatic bile duct|small cell adenocarcinoma of the extrahepatic bile duct|extrahepatic bile duct small cell NEC|extrahepatic bile duct small cell neuroendocrine carcinoma|Oat cell extrahepatic bile duct carcinoma|Oat cell carcinoma of the extrahepatic bile duct|small cell extrahepatic bile duct carcinoma|Oat cell carcinoma of extrahepatic bile duct UMLS:C1335979|DOID:5926|NCIT:C5845 owl:Class MONDO:0002665 biolink:NamedThing extrahepatic bile duct adenocarcinoma A carcinoma that arises from glandular epithelial cells of the extrahepatic bile duct tmpaxzxjjyw_mondo_relaxed.owl extrahepatic bile duct adenocarcinoma|adenocarcinoma of the extrahepatic bile duct|adenocarcinoma of extrahepatic bile duct DOID:3495|UMLS:C0279659|NCIT:C7975 owl:Class HP:0002750 biolink:NamedThing Delayed skeletal maturation A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. tmpaxzxjjyw_mondo_relaxed.owl Skeletal maturation retardation|Delayed bone maturation|Delayed skeletal development|Retarded bone age|Delayed bone age|Retarded ossification|Delayed bone age before puberty UMLS:C0541764|SNOMEDCT_US:123983008 HP:0000928|HP:0002806 human_phenotype owl:Class ENVO:0010001 biolink:NamedThing anthropogenic environmental material Anthropogenic material in or on which organisms may live. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0052548 biolink:NamedThing regulation of endopeptidase activity Any process that modulates the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. tmpaxzxjjyw_mondo_relaxed.owl protease regulator activity owl:Class MONDO:0012539 biolink:NamedThing Joubert syndrome 6 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM67 gene. tmpaxzxjjyw_mondo_relaxed.owl TMEM67 Joubert syndrome|JBTS6|Joubert syndrome caused by mutation in TMEM67|Joubert syndrome 6|Joubert syndrome type 6 DOID:0111001|UMLS:C1853153|Orphanet:475|MESH:C537689|OMIM:610688 owl:Class MONDO:0018772 biolink:NamedThing Joubert syndrome Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome|Joubert-Boltshauser syndrome|CPD IV|cerebellar vermis agenesis|classic Joubert syndrome|pure Joubert syndrome|JBTS|Joubert syndrome type A|cerebelloparenchymal disorder IV OMIM:614424|DOID:0050777|GARD:0006802|OMIM:614464|OMIM:213300|OMIM:612291|OMIM:617120|OMIM:610688|Orphanet:475|ICD10:Q04.3|OMIM:614970|OMIM:616784|OMIM:615636|OMIM:616781|OMIMPS:213300|NCIT:C74996|OMIM:614615|SCTID:716997004|OMIM:616654|OMIM:614173|OMIM:617121|OMIM:616490 owl:Class MONDO:0014235 biolink:NamedThing chromosome 22q13 duplication syndrome tmpaxzxjjyw_mondo_relaxed.owl chromosome 22q13 duplication syndrome DOID:0060437|UMLS:C3809844|OMIM:615538 owl:Class MONDO:0016972 biolink:NamedThing partial duplication of the long arm of chromosome 22 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of the long arm of chromosome 22|partial duplication of the long arm of chromosome type 22|partial duplication of chromosome 22q|partial trisomy of chromosome 22q Orphanet:263004 owl:Class MONDO:0017614 biolink:NamedThing X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982. tmpaxzxjjyw_mondo_relaxed.owl Young-Hughes syndrome|Sex-linked mental retardation, short stature, obesity and hypogonadism|X-linked intellectual disability - short stature – obesity|Sex-linked intellectual disability, short stature, obesity and hypogonadism MESH:C536715|Orphanet:3055|UMLS:C0796264|GARD:0000345|ICD10:Q87.8 owl:Class UBERON:0002486 biolink:NamedThing glottis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020174 biolink:NamedThing precancerous lesion of palpebral epidermis A precancerous condition that involves the skin of eyelid. tmpaxzxjjyw_mondo_relaxed.owl skin of eyelid precancerous condition Orphanet:98583 owl:Class MONDO:0021074 biolink:NamedThing precancerous condition A pathological process with signs indicating it may become cancerous. Representative examples include leukoplakia, dysplastic nevus, actinic keratosis, xeroderma pigmentosum, and intraepithelial neoplasia. tmpaxzxjjyw_mondo_relaxed.owl premalignant state|precancerous condition|premalignant condition|precancerous state NCIT:C3341|MESH:D011230 Editor note: check classification. Also consider changing def, NCIT defines as disease. Also consider a grouping for this and paraneoplastic syndrome owl:Class ENVO:00005748 biolink:NamedThing dry soil Soil which has little to no water content and in which minerals and other soluble chemical entities have either bonded or become adsorbed to sold particles due to insufficient water availability. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00001998 biolink:NamedThing soil Soil is an environmental material which is primarily composed of minerals, varying proportions of sand, silt, and clay, organic material such as humus, gases, liquids, and a broad range of resident micro- and macroorganisms. tmpaxzxjjyw_mondo_relaxed.owl regolith owl:Class GO:1903781 biolink:NamedThing positive regulation of cardiac conduction Any process that activates or increases the frequency, rate or extent of cardiac conduction. tmpaxzxjjyw_mondo_relaxed.owl activation of cardiac conduction|upregulation of cardiac conduction|up regulation of cardiac conduction|up-regulation of cardiac conduction owl:Class MONDO:0021513 biolink:NamedThing benign neoplasm of tonsil A benign neoplasm that involves the tonsil. tmpaxzxjjyw_mondo_relaxed.owl benign tonsillar neoplasm|tonsillar neoplasm, benign|benign tumor of the tonsil|benign tumor of tonsil|benign tonsil tumor|benign tonsil neoplasm|tonsil benign neoplasm|benign tonsillar tumor|benign neoplasm of the tonsil NCIT:C3594|UMLS:C0153936|ICD10:D10.4|SCTID:92263001|ICD9:210.5 owl:Class NCBITaxon:42458 biolink:NamedThing Lichtheimia corymbifera tmpaxzxjjyw_mondo_relaxed.owl Absidia corymbifera|Mucor corymbifer|Mycocladus corymbiferus|Mycocladus corymbifer GC_ID:1|PMID:17997297 NCBITaxon:2231641 ncbi_taxonomy owl:Class MONDO:0015774 biolink:NamedThing thoraco-abdominal enteric duplication Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or malena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported. tmpaxzxjjyw_mondo_relaxed.owl thoraco abdominal enteric duplication Orphanet:1759|ICD10:Q43.4|GARD:0005181|SCTID:733628001 https://rarediseases.info.nih.gov/diseases/5181/thoraco-abdominal-enteric-duplication owl:Class MONDO:0018535 biolink:NamedThing biliary cystadenocarcinoma A cystadenocarcinoma that involves the biliary tree. tmpaxzxjjyw_mondo_relaxed.owl intrahepatic bile duct cystadenocarcinoma ICD10:C22.1|Orphanet:424982|UMLS:C2064409 owl:Class MONDO:0003060 biolink:NamedThing biliary tract cancer A malignant neoplasm involving the biliary tree tmpaxzxjjyw_mondo_relaxed.owl malignant tumour of biliary tract|malignant biliary tree neoplasm|cancer of biliary tree|biliary tree cancer|malignant neoplasm of biliary tree ICD10:C24.9|GARD:0005924|DOID:4607|ICD9:156.9 https://rarediseases.info.nih.gov/diseases/5924/biliary-tract-cancer owl:Class MONDO:0009145 biolink:NamedThing SchC6pf-Schulz-Passarge syndrome A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy. tmpaxzxjjyw_mondo_relaxed.owl palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome|keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome|SCHOPF-Schulz-Passarge syndrome|SChöPF-Schulz-Passarge syndrome|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|SSPS|eccrine tumors with ectodermal dysplasia|eccrine tumors-ectodermal dysplasia MESH:C565607|ICD10:Q82.8|ICD9:758.89|DOID:0111647|Orphanet:50944|OMIM:224750|UMLS:C1857069|SCTID:700062000 https://github.com/monarch-initiative/mondo/issues/3293 owl:Class MONDO:0100358 biolink:NamedThing ectodermal dysplasia WNT10A related tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia WNT10A related http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3293 owl:Class UBERON:0000378 biolink:NamedThing tongue muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904228 biolink:NamedThing positive regulation of glycogen synthase activity, transferring glucose-1-phosphate Any process that activates or increases the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. tmpaxzxjjyw_mondo_relaxed.owl up regulation of glycogen synthase activity, transferring glucose-1-phosphate|upregulation of glycogen synthase activity, transferring glucose-1-phosphate|up-regulation of glycogen synthase activity, transferring glucose-1-phosphate|activation of glycogen synthase activity, transferring glucose-1-phosphate owl:Class MONDO:0009590 biolink:NamedThing metachromatic leukodystrophy due to saposin b deficiency tmpaxzxjjyw_mondo_relaxed.owl saposin B deficiency|metachromatic leukodystrophy due to saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency Orphanet:512|UMLS:C0268262|OMIM:249900|MESH:C562609|GARD:0010674|SCTID:68390005 https://rarediseases.info.nih.gov/diseases/10674/metachromatic-leukodystrophy-due-to-saposin-b-deficiency owl:Class GO:0006601 biolink:NamedThing creatine biosynthetic process The chemical reactions and pathways resulting in the formation of creatine, N-[amino(imino)methyl]-N-methylglycine. Creatine is formed by a process beginning with amidino group transfer from L-arginine to glycine to form guanidinoacetate, followed by methyl group transfer from S-adenosyl-L-methionine to guanidinoacetate; it is then is phosphorylated to form a pool that stores high energy phosphate for the replenishment of ATP during periods of high, or fluctuating energy demand. In animals, most creatine is transported to and used in muscle. tmpaxzxjjyw_mondo_relaxed.owl creatine synthesis|creatine formation|creatine biosynthesis|creatine anabolism owl:Class MONDO:0009063 biolink:NamedThing ventriculomegaly-cystic kidney disease tmpaxzxjjyw_mondo_relaxed.owl VMCKD|congenital nephrosis-cerebral ventriculomegaly syndrome|ventriculomegaly with cystic kidney disease DOID:0111625|UMLS:C1857423|OMIM:219730|Orphanet:443988 owl:Class MONDO:0011663 biolink:NamedThing juvenile primary lateral sclerosis Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production. tmpaxzxjjyw_mondo_relaxed.owl PLSJ|primary lateral sclerosis, juvenile|PLS juvenile|JPLS|juvenile PLS|Pls, juvenile OMIM:606353|UMLS:C1853396|GARD:0004485|Orphanet:247604|MESH:C536416|SCTID:717964007|ICD10:G12.2 https://rarediseases.info.nih.gov/diseases/4485/juvenile-primary-lateral-sclerosis owl:Class MONDO:0018155 biolink:NamedThing lateral sclerosis Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production. tmpaxzxjjyw_mondo_relaxed.owl adult-onset PLS|primary lateral sclerosis|adult-onset primary lateral sclerosis|PLS SCTID:81211007|ICD10:G12.2|Orphanet:35689|GARD:0010684|ICD10:G12.29|MedDRA:10036704|NCIT:C129933|DOID:230|ICD9:335.24|UMLS:C0154682|MESH:D016472|OMIM:611637 owl:Class HGNC:9848 biolink:NamedThing RANBP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013904 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMGNT2 gene. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2|MDDGA8|POMGNT2 muscular dystrophy-dystroglycanopathy, type A|Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8|muscle-eye-brain-POMGNT2 related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 OMIM:614830|UMLS:C3553813|Orphanet:899|DOID:0111231 owl:Class MONDO:0700075 biolink:NamedThing congenital muscular dystrophy caused by variation in POMGNT2 Any congenital muscular dystrophy in which the cause of the disease is a variation in the POMGNT2 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital muscular dystrophy caused by mutation in POMGNT2|congenital muscular dystrophy-POMGNT2 related http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0007767 biolink:NamedThing hyperparathyroidism 1 tmpaxzxjjyw_mondo_relaxed.owl hyperparathyroidism, familial isolated primary|hyperparathyroidism 1|hyperparathyroidism type 1|HRPT1|parathyroid adenoma, familial OMIM:145000|UMLS:C1840402|Orphanet:99877|Orphanet:99879 owl:Class MONDO:0015027 biolink:NamedThing familial isolated hyperparathyroidism A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors. tmpaxzxjjyw_mondo_relaxed.owl FIHPT|FIHP|familial isolated hyperparathyroidism NCIT:C94830|ICD10:E21.0|OMIM:610071|OMIM:617343|Orphanet:99879|OMIM:145000|UMLS:CN207422 owl:Class UBERON:0005451 biolink:NamedThing segment of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045017 biolink:NamedThing glycerolipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. tmpaxzxjjyw_mondo_relaxed.owl glycerolipid synthesis|glycerolipid anabolism|glycerolipid biosynthesis|glycerolipid formation owl:Class MONDO:0017053 biolink:NamedThing intermittent maple syrup urine disease Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated. tmpaxzxjjyw_mondo_relaxed.owl intermittent BCKD deficiency|intermittent MSUD|intermittent branched-chain 2-ketoacid dehydrogenase deficiency|intermittent branched-chain alpha-ketoacid dehydrogenase deficiency|intermittent maple syrup urine disease ICD10:E71.0|SCTID:405288003|Orphanet:268173|OMIM:248600 owl:Class CHEBI:65001 biolink:NamedThing EC 3.1.1.3 (triacylglycerol lipase) inhibitor Any EC 3.1.1.* (carboxylic ester hydrolase) inhibitor that inhibits the action of triacylglycerol lipase (EC 3.1.1.3). tmpaxzxjjyw_mondo_relaxed.owl triglyceride lipase inhibitor|heparin releasable hepatic lipase inhibitors|liver lipase inhibitors|triacylglycerol lipase inhibitors|Tweenase inhibitors|hepatic lipase inhibitors|lipazin inhibitors|butyrinase inhibitors|hepatic monoacylglycerol acyltransferase inhibitors|pancreatic lipase inhibitors|triacylglycerol lipase (EC 3.1.1.3) inhibitors|triolein hydrolase inhibitors|lipase inhibitors|glycerol ester hydrolase inhibitor|Tween hydrolase inhibitors|EC 3.1.1.3 (triacylglycerol lipase) inhibitors|steapsin inhibitors|Tweenesterase inhibitor|post-heparin plasma protamine-resistant lipase inhibitor|triolein hydrolase inhibitor|pancreatic lipase inhibitor|triglyceride lipase inhibitors|tributyrin esterase inhibitor|triglyceride hydrolase inhibitor|butyrinase inhibitor|Tween hydrolase inhibitor|triglyceridase inhibitors|cacordase inhibitor|GEH inhibitor|triacylglycerol lipase (EC 3.1.1.3) inhibitor|triglyceride hydrolase inhibitors|salt-resistant post-heparin lipase inhibitors|heparin releasable hepatic lipase inhibitor|triglyceridase inhibitor|hepatic lipase inhibitor|salt-resistant post-heparin lipase inhibitor|tributyrin esterase inhibitors|triacylglycerol lipase inhibitor|glycerol ester hydrolase inhibitors|Tweenesterase inhibitors|glycerol-ester hydrolase inhibitors|triacetinase inhibitor|post-heparin plasma protamine-resistant lipase inhibitors|triacylglycerol ester hydrolase inhibitors|PPL inhibitors|triacylglycerol ester hydrolase inhibitor|capalase L inhibitors|lipase inhibitor|capalase L inhibitor|EC 3.1.1.3 inhibitors|GEH inhibitors|Tweenase inhibitor|tween-hydrolyzing esterase inhibitors|pancreatic triacylglycerol lipase inhibitors|cacordase inhibitors|hepatic monoacylglycerol acyltransferase inhibitor|triacetinase inhibitors|pancreatic triacylglycerol lipase inhibitor|steapsin inhibitor|lipazin inhibitor|tween-hydrolysing esterase inhibitor|tributyrinase inhibitors|tributyrase inhibitors|liver lipase inhibitor|EC 3.1.1.3 inhibitor|glycerol-ester hydrolase inhibitor|tributyrinase inhibitor|PPL inhibitor|tributyrase inhibitor owl:Class CHEBI:76773 biolink:NamedThing EC 3.1.1.* (carboxylic ester hydrolase) inhibitor An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of a carboxylic ester hydrolase (EC 3.1.1.*). tmpaxzxjjyw_mondo_relaxed.owl EC 3.1.1.* inhibitors|carboxylic ester hydrolase (EC 3.1.1.*) inhibitor|EC 3.1.1.* (carboxylic ester hydrolase) inhibitors|carboxylic ester hydrolase (EC 3.1.1.*) inhibitors|EC 3.1.1.* inhibitor owl:Class HGNC:19190 biolink:NamedThing DOCK7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004086 biolink:NamedThing brain ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005358 biolink:NamedThing ventricle of nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002105 biolink:NamedThing toxic megacolon An acute form of megacolon, severe pathological dilatation of the colon. It is associated with clinical conditions such as ulcerative colitis; crohn disease; amebic dysentery; or clostridium enterocolitis. tmpaxzxjjyw_mondo_relaxed.owl SCTID:28536002|ICD10:K59.31|ICD9:564.7|UMLS:C0025162|DOID:1770|ICD10:K59.3|MESH:D008532 owl:Class MONDO:0001273 biolink:NamedThing megacolon An abnormal dilation of the colon not due to obstruction. tmpaxzxjjyw_mondo_relaxed.owl dilatation of colon NCIT:C34810|DOID:11372|ICD9:564.7|MESH:D008531|SCTID:33995003|ICD10:K59.3 owl:Class MONDO:0021172 biolink:NamedThing Timothy syndrome type 2 (disorder) Atypical form of Timothy syndrome, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. tmpaxzxjjyw_mondo_relaxed.owl Timothy syndrome, atypical type UMLS:C4304347|SCTID:719907006 owl:Class MONDO:0015353 biolink:NamedThing neuronopathy, distal hereditary motor, type 5A tmpaxzxjjyw_mondo_relaxed.owl neuronopathy, distal hereditary motor, type 5A|HMN5A|spinal muscular atrophy, distal, type 5|neuropathy, distal hereditary motor, type 5A|spinal muscular atrophy, distal, with upper limb predominance|distal hereditary motor neuropathy type V|neuronopathy, distal hereditary motor, type VA|distal spinal muscular atrophy type 5|dHMN 5A|neuronopathy, distal hereditary motor, type 5|distal HMN V|dHMN5|HMN 5A|spinal muscular atrophy, distal, type 5A OMIM:600794|ICD10:G12.2|DOID:0111204|UMLS:C1833308|Orphanet:139536 owl:Class MONDO:0015362 biolink:NamedThing autosomal dominant distal hereditary motor neuropathy Autosomal dominant form of distal hereditary motor neuropathy. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant distal hereditary motor neuropathy|distal hereditary motor neuropathy, autosomal dominant|autosomal dominant dHMN|autosomal dominant distal spinal muscular atrophy Orphanet:140465|DOID:0111198|UMLS:CN228930|ICD10:G12.1 owl:Class MONDO:0014270 biolink:NamedThing STT3A-CDG STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3). tmpaxzxjjyw_mondo_relaxed.owl CDG Iw|congenital disorder of glycosylation type 1w|CDG syndrome type Iw|CDG1W|STT3A-CDG|CDG-Iw|congenital disorder of glycosylation, type Iw|congenital disorder of glycosylation type Iw Orphanet:370921|OMIM:615596|ICD10:E77.8|SCTID:733111000|UMLS:C3810062|DOID:0080572 owl:Class CHEBI:42724 biolink:NamedThing (R)-amphetamine A 1-phenylpropan-2-amine that has R configuration. tmpaxzxjjyw_mondo_relaxed.owl levamphetamine|(R)-amphetamine|(-)-phenylisopropylamine|(-)-amphetamine|levamfetamine|(R)-alpha-methylphenethylamine|(R)-alpha-methylbenzeneethanamine|(2R)-1-phenylpropan-2-amine owl:Class CHEBI:132233 biolink:NamedThing 1-phenylpropan-2-amine A primary amine that is isopropylamine in which a hydrogen attached to one of the methyl groups has been replaced by a phenyl group. tmpaxzxjjyw_mondo_relaxed.owl 1-phenylpropan-2-amine owl:Class HGNC:23719 biolink:NamedThing PGAP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006002 biolink:NamedThing vitelline artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003513 biolink:NamedThing trunk blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048520 biolink:NamedThing positive regulation of behavior Any process that activates or increases the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. tmpaxzxjjyw_mondo_relaxed.owl up regulation of behavior|up-regulation of behavior|activation of behavior|upregulation of behavior|stimulation of behavior owl:Class HGNC:15512 biolink:NamedThing VANGL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1980476 biolink:NamedThing Laguna Negra orthohantavirus tmpaxzxjjyw_mondo_relaxed.owl Laguna Negra hantavirus|Laguna Negra virus GC_ID:1 NCBITaxon:61172 ncbi_taxonomy owl:Class CHEBI:23482 biolink:NamedThing cyclohexanones Any alicyclic ketone based on a cyclohexane skeleton and its substituted derivatives thereof. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011420 biolink:NamedThing short stature due to partial GHR deficiency Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone. tmpaxzxjjyw_mondo_relaxed.owl Growth hormone deficiency, isolated, partial|short stature due to partial growth hormone receptor deficiency|growth hormone insensitivity, partial|GHIP|Growth hormone, insensitivity to, partial|increased responsiveness to Growth hormone ICD10:E34.3|MESH:C565805|Orphanet:314802|OMIM:604271 owl:Class MONDO:0006909 biolink:NamedThing pituitary dwarfism Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10035083|SCTID:367460001|UMLS:C0013338|ICD9:253.3|NCIT:C34555|EFO:1001109|MESH:D004393 owl:Class HGNC:2488 biolink:NamedThing NKX2-5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015006 biolink:NamedThing generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa simplex, generalized, with scarring and hair loss|EBSSH|epidermolysis bullosa simplex, generalized, with scarring and hair loss; EBSSH Orphanet:508529|UMLS:C4310631|OMIM:617294 owl:Class GO:0004339 biolink:NamedThing glucan 1,4-alpha-glucosidase activity Catalysis of the hydrolysis of terminal (1->4)-linked alpha-D-glucose residues successively from non-reducing ends of the chains with release of beta-D-glucose. tmpaxzxjjyw_mondo_relaxed.owl gamma-1,4-glucan glucohydrolase activity|lysosomal alpha-glucosidase activity|glucose amylase activity|1,4-alpha-D-glucan glucohydrolase activity|exo-1,4-alpha-glucosidase activity|gamma-amylase activity|glucoamylase activity|amyloglucosidase activity owl:Class GO:0015926 biolink:NamedThing glucosidase activity Catalysis of the hydrolysis of glucosyl compounds, substances containing a group derived from a cyclic form of glucose or a glucose derivative. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003527 biolink:NamedThing kidney capillary tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001982 biolink:NamedThing capillary tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002604 biolink:NamedThing astrocyte of the hippocampus tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T06:57:33Z cell owl:Class CL:1001580 biolink:NamedThing hippocampus glial cell Glial cell of hippocampus. tmpaxzxjjyw_mondo_relaxed.owl hippocampus glial cells|hippocampal glial cell|hippocampus neuroglial cell CALOHA:TS-1257 owl:Class NCBITaxon:5721 biolink:NamedThing Trichomonas tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:181550 biolink:NamedThing Trichomonadidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:481 biolink:NamedThing Neisseriaceae tmpaxzxjjyw_mondo_relaxed.owl Vitreoscillaceae PMID:13983561|GC_ID:11|PMID:8347509|PMID:16350128|PMID:23575986 ncbi_taxonomy owl:Class NCBITaxon:206351 biolink:NamedThing Neisseriales tmpaxzxjjyw_mondo_relaxed.owl PMID:16403855|PMID:23575986|GC_ID:11 ncbi_taxonomy owl:Class HP:0001700 biolink:NamedThing Myocardial necrosis Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction). tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:251061000|UMLS:C1442837 human_phenotype owl:Class HP:0001637 biolink:NamedThing Abnormal myocardium morphology A structural anomaly of the muscle layer of the heart wall. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the myocardium UMLS:C4025758 human_phenotype owl:Class MONDO:0014275 biolink:NamedThing Fanconi renotubular syndrome 3 Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene. tmpaxzxjjyw_mondo_relaxed.owl Fanconi syndrome caused by mutation in EHHADH|EHHADH Fanconi syndrome|Fanconi renotubular syndrome 3|Fanconi renotubular syndrome type 3|FRTS3 UMLS:C3810100|Orphanet:3337|OMIM:615605 owl:Class MONDO:0022990 biolink:NamedThing diphallus rachischisis imperforate anus tmpaxzxjjyw_mondo_relaxed.owl GARD:0001873 https://rarediseases.info.nih.gov/diseases/1873/diphallus-rachischisis-imperforate-anus owl:Class NCBITaxon:70426 biolink:NamedThing Oxyuridomorpha tmpaxzxjjyw_mondo_relaxed.owl Oxyurida GC_ID:1 ncbi_taxonomy owl:Class CHEBI:16705 biolink:NamedThing 6-aminopenicillanic acid A penicillanic acid compound having a (6R)-amino substituent. The active nucleus common to all penicillins, it may be substituted at the 6-amino position to form the semisynthetic penicillins, resulting in a variety of antibacterial and pharmacologic characteristics. tmpaxzxjjyw_mondo_relaxed.owl (2S,5R,6R)-6-amino-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid|6-Aminopenicillamine acid|6-Aminopenicillanic acid|6-Aps|6-amino-2,2-dimethylpenam-3alpha-carboxylic acid|Penin|Penicin|(+)-6-aminopenicillanic acid|6-Aminopenicillanate|6beta-aminopenicillanic acid|Phenacyl 6-aminopenicillinate|6-APA|Aminopenicillanic acid|6-Apa owl:Class CHEBI:25865 biolink:NamedThing penicillanic acids tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:47909 biolink:NamedThing 3-oxo-Delta(4) steroid A 3-oxo steroid conjugated to a C=C double bond at the alpha,beta position. tmpaxzxjjyw_mondo_relaxed.owl 3-oxo Delta(4)-steroids|3-oxo Delta(4)-steroid|3-oxo-Delta(4) steroids|3-Oxo-delta4-steroid|a 3-oxo-Delta(4)-steroid owl:Class CHEBI:51689 biolink:NamedThing enone An alpha,beta-unsaturated ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) in which the C=O function is conjugated to a C=C double bond at the alpha,beta position. tmpaxzxjjyw_mondo_relaxed.owl enones owl:Class MONDO:0017007 biolink:NamedThing partial deletion of the long arm of chromosome X tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome Xq|partial monosomy of the long arm of chromosome X|partial deletion of chromosome Xq|partial deletion of the long arm of chromosome type X Orphanet:263756|ICD10:Q99.8 owl:Class MONDO:0016773 biolink:NamedThing atrophic lichen planus Atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of pale papules or plaques with an atrophic center. tmpaxzxjjyw_mondo_relaxed.owl atrophic LP Orphanet:254449|NCIT:C34777|ICD10:L43.8|UMLS:C0023647|SCTID:25858008|GARD:0012675|MedDRA:10056959 https://rarediseases.info.nih.gov/diseases/12675/atrophic-lichen-planus owl:Class MONDO:0004085 biolink:NamedThing choroid epithelioid cell melanoma A epithelioid cell melanoma that involves the optic choroid. tmpaxzxjjyw_mondo_relaxed.owl choroidal epithelioid cell melanoma|epithelioid cell melanoma of the choroid|epithelioid cell melanoma of optic choroid|choroid epithelioid cell melanoma|epithelioid cell melanoma of choroid|optic choroid epithelioid cell melanoma UMLS:C1333024|NCIT:C6102|DOID:7041 owl:Class MONDO:0002973 biolink:NamedThing epithelioid cell melanoma A melanoma characterized by the presence of malignant large epithelioid melanocytes. tmpaxzxjjyw_mondo_relaxed.owl epithelioid cell melanoma|epithelioid cell malignant melanoma|epithelioid cell melanoma (morphologic abnormality)|epithelioid melanoma UMLS:C0334443|DOID:4360|NCIT:C4236|ICDO:8771/3 owl:Class MONDO:0004649 biolink:NamedThing anaerobic pneumonia A pneumonia caused by anaerobic bacteria. tmpaxzxjjyw_mondo_relaxed.owl pneumonia caused by anaerobic bacteria|pneumonia due to anaerobes|pneumonia due to anaerobic bacteria UMLS:C1443976|SCTID:409664000|ICD9:482.89|DOID:873|ICD9:482.81 owl:Class MONDO:0007383 biolink:NamedThing Stern-Lubinsky-Durrie syndrome Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait. tmpaxzxjjyw_mondo_relaxed.owl Cdo syndrome|corneal dystrophy, epithelial, with skin and skeletal changes|Stern Lubinsky Durrie syndrome|corneo-dermato-osseous syndrome|corneal dystrophy epithelial and short stature|CORNEODERMATOOSSEOUS syndrome MESH:C537488|SCTID:723584003|OMIM:122440|ICD10:H18.5|GARD:0001531|Orphanet:3194 owl:Class NCIT:C36753 biolink:NamedThing Neoplastic Epithelial Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C12922 biolink:NamedThing Neoplastic Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000969 biolink:NamedThing Edema An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. tmpaxzxjjyw_mondo_relaxed.owl Hydrops|Water retention|Dropsy|Fluid retention|Oedema SNOMEDCT_US:79654002|SNOMEDCT_US:20741006|MSH:D004487|SNOMEDCT_US:267038008|SNOMEDCT_US:423666004|UMLS:C0013604 Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. HP:0000990 human_phenotype owl:Class HP:0011032 biolink:NamedThing Abnormality of fluid regulation An abnormality of the regulation of body fluids. tmpaxzxjjyw_mondo_relaxed.owl Fluid imbalance|Abnormality of fluid regulation SNOMEDCT_US:190902006|UMLS:C2364164|SNOMEDCT_US:1860003 peter 2011-03-05T09:09:27Z human_phenotype owl:Class GO:1903011 biolink:NamedThing negative regulation of bone development Any process that stops, prevents or reduces the frequency, rate or extent of bone development. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of bone development|downregulation of bone development|inhibition of bone development|down regulation of bone development owl:Class GO:1903010 biolink:NamedThing regulation of bone development Any process that modulates the frequency, rate or extent of bone development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005286 biolink:NamedThing palatal neoplasm A benign or malignant neoplasm that affects the hard palate, soft palate, or uvula. tmpaxzxjjyw_mondo_relaxed.owl palate tumor|tumor of palate|neoplasm of the palate|tumor of secondary palate|neoplasm of secondary palate|secondary palate neoplasm|tumor of the palate|neoplasm of palate|palate neoplasm|secondary palate tumor|secondary palate neoplasm (disease) SCTID:126805009|MESH:D010157|EFO:0003849|NCIT:C4402|UMLS:C0030215 owl:Class MONDO:0044987 biolink:NamedThing face disorder A disease or disorder that involves the face. tmpaxzxjjyw_mondo_relaxed.owl disease of face|face disease or disorder|face disease|disorder of face|disease or disorder of face SCTID:118930001|UMLS:C1290857 owl:Class MONDO:0004669 biolink:NamedThing salivary gland cancer A primary or metastatic malignant neoplasm that affects the major or minor salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma. tmpaxzxjjyw_mondo_relaxed.owl malignant salivary gland neoplasm|saliva-secreting gland cancer|malignant neoplasm of saliva-secreting gland|cancer of the salivary gland|malignant tumor of salivary gland|salivary gland cancer|malignant neoplasm of salivary gland|cancer of salivary gland|malignant tumor of the salivary gland|malignant saliva-secreting gland neoplasm|malignant neoplasm of salivary gland duct|malignant neoplasm of the salivary gland|cancer of saliva-secreting gland|malignant neoplasm of major salivary gland|malignant salivary gland tumor MESH:D012468|ICD9:142.8|DOID:8850|ICD10:C08|SCTID:255072001|NCIT:C3811 owl:Class OBO:CHR_9606-chr19p13.12 biolink:NamedThing 19p13.12 (Human) tmpaxzxjjyw_mondo_relaxed.owl 16100000 13800000 hg38 owl:Class HGNC:16088 biolink:NamedThing SFXN4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017312 biolink:NamedThing Perrault syndrome Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl gonadal dysgenesis, XX type, with deafness|XX gonodal dysgenesis-deafness syndrome|Perrault syndrome OMIMPS:233400|OMIM:615300|OMIM:233400|UMLS:CN239459|OMIM:616138|OMIM:614926|SCTID:93466004|DOID:0050857|OMIM:614129|ICD10:Q87.8|GARD:0002542|Orphanet:2855|UMLS:C0685838 owl:Class MONDO:0044344 biolink:NamedThing Schistosoma japonicum infectious disease An infection that is caused by Schistosoma japonicum. tmpaxzxjjyw_mondo_relaxed.owl Katayama disease|Katamaya syndrome|Schistosoma japonicum infection|schistosomiasis japonicum|Schistosoma japonicum disease or disorder|Schistosoma japonicum caused disease or disorder|Asiatic schistosomiasis|Katamaya fever MESH:D012554|SCTID:268058007|NCIT:C35001 owl:Class MONDO:0001171 biolink:NamedThing acute salpingo-oophoritis Acute form of salpingo-oophoritis. tmpaxzxjjyw_mondo_relaxed.owl acute salpingitis and oophoritis|salpingo-oophoritis, acute ICD9:614.0|ICD10:N70.0|ICD10:N70.03|DOID:10971|SCTID:266581008|UMLS:C0156327 owl:Class MONDO:0012524 biolink:NamedThing corticosterone methyloxidase type 2 deficiency tmpaxzxjjyw_mondo_relaxed.owl aldosterone deficiency 2|aldosterone deficiency due to deficiency of steroid 18-oxidase|steroid 18-oxidase deficiency|hyperreninemic hypoaldosteronism, familial, 1|Cmo 2 deficiency|18-oxidase deficiency|corticosterone methyloxidase type II deficiency Orphanet:99763|Orphanet:427|UMLS:C3463917|OMIM:610600 owl:Class UBERON:0001781 biolink:NamedThing layer of retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0022303 biolink:NamedThing nervous system cell part layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2037 biolink:NamedThing Actinomycetales tmpaxzxjjyw_mondo_relaxed.owl PMID:28840812|PMID:16558735|GC_ID:11|PMID:19244447|PMID:10028252 NCBITaxon:85005 ncbi_taxonomy owl:Class HP:0004566 biolink:NamedThing Pear-shaped vertebrae Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. tmpaxzxjjyw_mondo_relaxed.owl Pear-shaped vertebral bodies UMLS:C1866731 human_phenotype owl:Class HP:0003312 biolink:NamedThing Abnormal form of the vertebral bodies Abnormal morphology of vertebral body. tmpaxzxjjyw_mondo_relaxed.owl Abnormally shaped vertebrae UMLS:C1839326 human_phenotype owl:Class NCBITaxon:41831 biolink:NamedThing Psychodoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43787 biolink:NamedThing Psychodomorpha tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010180 biolink:NamedThing autosomal recessive spondylocostal dysostosis Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine. tmpaxzxjjyw_mondo_relaxed.owl costovertebral dysplasia|spondylocostal dysostosis, autosomal recessive|Jarcho-Levin syndrome|SCDO1|spondylocostal dysostosis 1, autosomal recessive OMIM:613686|MESH:C535781|Orphanet:2311|OMIM:609813|UMLS:CN032975|OMIM:616566|OMIM:608681|ICD10:Q76.8|ICD9:756.9|SCTID:61367005 owl:Class MONDO:0018292 biolink:NamedThing congenital disorder of glycosylation-related bone disorder tmpaxzxjjyw_mondo_relaxed.owl CDG-related bone disorder ICD10:E77.8|Orphanet:371195 owl:Class MONDO:0018875 biolink:NamedThing Li-Fraumeni syndrome Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas, brain tumors and adrenal cortical carcinoma (ACC). tmpaxzxjjyw_mondo_relaxed.owl Li-Fraumeni familiar cancer susceptibility syndrome|sarcoma, breast, leukaemia and adrenal gland syndrome|Li Fraumeni syndrome|SBLA syndrome|sarcoma family syndrome of Li and Fraumeni|Li-Fraumeni familial cancer susceptibility syndrome|Li-Fraumeni syndrome|SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland) OMIM:609265|MedDRA:10066795|ICD10:D48.9|UMLS:C0085390|OMIMPS:151623|SCTID:428850001|OMIM:151623|NCIT:C3476|MESH:D016864|GARD:0006902|OMIM:609266|ICD9:V84.01|Orphanet:524|DOID:3012 owl:Class UBERON:0015055 biolink:NamedThing pubic endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007024 biolink:NamedThing Yersinia pseudotuberculosis infectious disease Infections with bacteria of the species yersinia pseudotuberculosis. tmpaxzxjjyw_mondo_relaxed.owl infection by Yersinia pseudotuberculosis|infection by Pasteurella pseudotuberculosis|infections, Yersinia pseudotuberculosis|Pasteurella pseudotuberculosis|Pasteurella Pseudotuberculoses|pseudotuberculosis, Pasteurella|Pseudotuberculoses, Pasteurella|pseudotuberculosis EFO:1001246|SCTID:36753006|MESH:D015012|UMLS:C0043410 owl:Class UBERON:0014649 biolink:NamedThing white matter of medulla oblongata tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015739 biolink:NamedThing adult-onset nemaline myopathy Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset. tmpaxzxjjyw_mondo_relaxed.owl GARD:0012824|UMLS:C0546123|Orphanet:171442|ICD10:G71.2 https://rarediseases.info.nih.gov/diseases/12824/adult-onset-nemaline-myopathy owl:Class MONDO:0016193 biolink:NamedThing qualitative or quantitative defects of alpha-actin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209059 owl:Class UBERON:0004411 biolink:NamedThing proximal epiphysis of humerus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013452 biolink:NamedThing multisystemic smooth muscle dysfunction syndrome Multisystemic smooth muscle dysfunction syndrome is a disease in which the activity of smooth muscle throughout the body is impaired. This leads to widespread problems including blood vessel abnormalities, a decreased response of the pupils to light, a weak bladder, and weakened contractions of the muscles used for the digestion of food (hypo peristalsis). A certain mutation in the ACTA2 gene has been shown to cause this condition insome individuals. tmpaxzxjjyw_mondo_relaxed.owl mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy|multisystemic smooth muscle dysfunction syndrome|congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy OMIM:613834|Orphanet:404463|GARD:0012811|UMLS:C3151201|ICD10:I73.8 https://rarediseases.info.nih.gov/diseases/12811/multisystemic-smooth-muscle-dysfunction-syndrome owl:Class MONDO:0018811 biolink:NamedThing congenital portosystemic shunt Congenital portosystemic shunt is a rare, congenital anomaly of the great veins characterized by an abnormal communication between one or more veins of the portal and the caval systems, resulting in complete or partial diversion of the portal blood away from the liver to the systemic circulation. Clinical manifestations include liver atrophy, hypergalactosemia without uridine diphosphate enzyme deficiency, hyperammonemia, encephalopathy (resulting in learning disabilities, extreme fatigability and seizures), pulmonary hypertension, hypoxemia from hepatopulmonary syndrome and benign or malignant tumours. tmpaxzxjjyw_mondo_relaxed.owl congenital portosystemic venous fistula Orphanet:480531 owl:Class MONDO:0025708 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl MMIHS2 OMIM:619351 owl:Class MONDO:0001258 biolink:NamedThing vertebral artery occlusion tmpaxzxjjyw_mondo_relaxed.owl vertebrobasial artery occlusion|occlusion and stenosis of vertebral artery|vertebral artery occlusion ICD9:433.20|ICD9:433.21|ICD9:433.2|DOID:11299|ICD10:I65.0|SCTID:195182007 owl:Class MONDO:0020672 biolink:NamedThing vascular occlusion disorder A disorder characterized by occlusion of blood vessels. It differs from thrombosis in that it can be used to describe any form of blockage, not just one formed by a clot. tmpaxzxjjyw_mondo_relaxed.owl vascular occlusion owl:Class GO:0016482 biolink:NamedThing cytosolic transport The directed movement of substances or organelles within the cytosol. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000556 biolink:NamedThing megakaryocyte A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl megalocaryocyte|megacaryocyte|megalokaryocyte CALOHA:TS-0611|BTO:0000843|FMA:83555 Megakaryocytes are reportedly CD181-positive and CD182-positive. cell owl:Class CL:1001610 biolink:NamedThing bone marrow hematopoietic cell Hematopoietic cells resident in the bone marrow. Include: hematopoietic stem cells (lymphoid stem cells and myeloid stem cells) and the precursor cells for thrombocytes, erythrocytes, basophils, neutrophils, eosinophils, monocytes and lymphocytes. tmpaxzxjjyw_mondo_relaxed.owl bone marrow poietic cells|bone marrow hematopoietic cells CALOHA:TS-2109 owl:Class MONDO:0011916 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2K Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, type 2K|Charcot-Marie-Tooth neuropathy axonal type 2K|autosomal recessive Charcot-Marie-Tooth disease with hoarseness|Charcot-Marie-Tooth neuropathy, axonal, type 2K|autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K|autosomal recessive axonal Charcot-Marie-Tooth disease type 2K|CMT2K|ARCMT2K|autosomal recessive axonal CMT4C4|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2K|Charcot-Marie-Tooth disease, autosomal dominant, type 2K UMLS:C1842984|OMIM:607831|ICD10:G60.0|OMIM:607706|DOID:0110167|Orphanet:101097|Orphanet:99944|UMLS:C1842983|SCTID:725047007 owl:Class GO:1990625 biolink:NamedThing negative regulation of cytoplasmic translational initiation in response to stress Any process that stops, prevents or reduces the rate of cytoplasmic translation initiation as a result of a stimulus indicating the organism is under stress. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1990611 biolink:NamedThing regulation of cytoplasmic translational initiation in response to stress Modulation of the frequency, rate or extent of cytoplasmic translational initiation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014741 biolink:NamedThing facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation tmpaxzxjjyw_mondo_relaxed.owl DESANTO-SHINAWI syndrome|Desanto-Shinawi syndrome|DESSH|chromosome 10P12-p11 deletion syndrome|developmental delay, behavioral abnormalities, Facial Dysmorphism, and ocular abnormalities UMLS:C4225239|UMLS:CN242167|Orphanet:466950|OMIM:616708 owl:Class MONDO:0015233 biolink:NamedThing caudal appendage-deafness syndrome Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. tmpaxzxjjyw_mondo_relaxed.owl caudal appendage deafness|caudal appendage, short terminal phalanges, deafness, cryptorchidism and intellectual disability|Lynch Lee Murday syndrome|Lynch-Lee-Murday syndrome|caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation Orphanet:1123|GARD:0001163|MESH:C537713|UMLS:C2931593|SCTID:726621009 https://rarediseases.info.nih.gov/diseases/1163/caudal-appendage-deafness owl:Class MONDO:0018697 biolink:NamedThing 1p35.2 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl monosomy 1p35.2|deletion 1p35.2|Del(1)(p35.2) UMLS:CN237766|Orphanet:456298|ICD10:Q93.5 owl:Class CL:2000051 biolink:NamedThing splenic fibroblast Any fibroblast that is part of a spleen. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-10-06T18:58:47Z cell owl:Class MONDO:0003438 biolink:NamedThing combined small cell lung carcinoma A morphologic variant of small cell lung carcinoma in combination with a non-small cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl combined small and large cell lung cancer|small cell and large cell carcinoma of the lung|combined small cell and large cell lung carcinoma|combined small cell carcinoma of the lung|mixed small cell and large cell lung carcinoma|combined small cell lung carcinoma|combined type small cell lung carcinoma|mixed small cell and large cell carcinoma of the lung|lung combined type small cell carcinoma|mixed small cell and large cell carcinoma of lung|combined small cell carcinoma of lung|small cell and large cell lung carcinoma|combined type small cell carcinoma of the lung|combined small cell lung cancer|combined type small cell carcinoma of lung|CSCLC|small cell and large cell carcinoma of lung|combined small and large cell lung carcinoma ONCOTREE:CSCLC|NCIT:C9137|DOID:5421|UMLS:C1333125|ICDO:8045/3 owl:Class HGNC:7982 biolink:NamedThing NR4A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903727 biolink:NamedThing positive regulation of phospholipid metabolic process Any process that activates or increases the frequency, rate or extent of phospholipid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of phospholipid metabolism|activation of phospholipid metabolism|activation of phospholipid metabolic process|upregulation of phospholipid metabolic process|positive regulation of phospholipid metabolism|up-regulation of phospholipid metabolic process|up regulation of phospholipid metabolism|upregulation of phospholipid metabolism|up regulation of phospholipid metabolic process owl:Class GO:0045937 biolink:NamedThing positive regulation of phosphate metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving phosphates. tmpaxzxjjyw_mondo_relaxed.owl up regulation of phosphate metabolic process|activation of phosphate metabolic process|positive regulation of phosphate metabolism|upregulation of phosphate metabolic process|stimulation of phosphate metabolic process|up-regulation of phosphate metabolic process owl:Class MONDO:0007481 biolink:NamedThing Leri-Weill dyschondrosteosis LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity. tmpaxzxjjyw_mondo_relaxed.owl Léri-Weill dyschondrosteosis|LC)ri-Weill syndrome|Leri-Weill syndrome|Madelung deformity|dyschondrosteosis|DCo|Léri-Weill syndrome|Leri Weill dyschondrosteosis|LC)ri-Weill dyschondrosteosis|Leri-Weill dyschondrosteosis|LWD GARD:0003224|NCIT:C126560|OMIM:127300|ICD10:Q77.8|Orphanet:240|ICD9:756.59|Orphanet:35688|DOID:0060847|UMLS:C0265309|SCTID:17818006 https://rarediseases.info.nih.gov/diseases/3224/leri-weill-dyschondrosteosis owl:Class MONDO:0011347 biolink:NamedThing craniosynostosis with ectopia lentis tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis with ectopia lentis UMLS:C1863678|OMIM:603595|MESH:C566357 owl:Class MONDO:0002365 biolink:NamedThing kidney hemangiopericytoma A hemangiopericytoma arising from the kidney. tmpaxzxjjyw_mondo_relaxed.owl kidney spindle cell tumor|hemangiopericytoma of the kidney|kidney hemangiopericytoma|renal hemangiopericytoma|hemangiopericytoma of kidney SCTID:254923001|DOID:262|UMLS:C0346256|NCIT:C4527 owl:Class MONDO:0021163 biolink:NamedThing kidney neoplasm A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl renal neoplasm|neoplasm of kidney|tumor of the kidney|kidney neoplasm|kidney tumor|renal tumors|renal tumor|tumor of kidney|kidney neoplasm (disease)|neoplasm of the kidney ONCOTREE:KIDNEY|SCTID:126880001|ICD9:239.5|NCIT:C3150 owl:Class CL:0000022 biolink:NamedThing female germ line stem cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0000014 biolink:NamedThing germ line stem cell tmpaxzxjjyw_mondo_relaxed.owl germline stem cell cell owl:Class MONDO:0018591 biolink:NamedThing ITM2B amyloidosis tmpaxzxjjyw_mondo_relaxed.owl familial cerebral amyloid angiopathy|ITM2B-related cerebral amyloid angiopathy|ITM2B-related amyloidosis UMLS:CN237622|SCTID:45639009|ICD9:277.39|ICD10:E85.4+|Orphanet:439254|OMIM:117300|ICD10:I68.0*|OMIM:176500 owl:Class UBERON:0000325 biolink:NamedThing gastric gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001784 biolink:NamedThing malignant renovascular hypertension tmpaxzxjjyw_mondo_relaxed.owl malignant renal artery stenosis|malignant renal hypertension DOID:13730 owl:Class MONDO:0009490 biolink:NamedThing Papillon-Lefevre disease Papillon-Lefevre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis. tmpaxzxjjyw_mondo_relaxed.owl PLS|Papillon Lefevre syndrome|PALS|Papillon-LEFèvre syndrome|PAPILLON-Lefevre syndrome|hyperkeratosis palmoplantaris with periodontosis|Pls|palmoplantar keratoderma with periodontosis|keratosis palmoplantar-periodontopathy syndrome|keratosis palmoplantar - periodontopathy|palmar-plantar hyperkeratosis and concomitant periodontal destruction|Papillon-Lefvre syndrome|keratosis palmoplantaris with periodontopathia|Keratoris palmoplantaris with periodontopathia GARD:0003100|DOID:3389|NCIT:C84992|ICD9:759.89|OMIM:245000|ICD10:Q82.8|MESH:D010214|UMLS:C0030360|SCTID:40158001|Orphanet:678 owl:Class HGNC:7685 biolink:NamedThing NDUFA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006826 biolink:NamedThing kwashiorkor A syndrome produced by severe protein deficiency, characterized by retarded growth, changes in skin and hair pigment, edema, and pathologic changes in the liver, including fatty infiltration, necrosis, and fibrosis. The word is a local name in Gold Coast, Africa, meaning 'displaced child'. Although first reported from Africa, kwashiorkor is now known throughout the world, but mainly in the tropics and subtropics. It is considered to be related to marasmus. (From Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl nutritional edema with dyspigmentation of skin and hair|Kwashiokor|nutritional oedema with dyspigmentation of skin and/or hair UMLS:C0022806|ICD9:260|MedDRA:10023504|SCTID:58262005|ICD10:E40|EFO:1001009|MESH:D007732|DOID:13579 owl:Class MONDO:0001371 biolink:NamedThing protein-energy malnutrition A nutritional deficit that is caused by inadequate protein or calorie intake. tmpaxzxjjyw_mondo_relaxed.owl Protein energy malnutrition MESH:D011502|ICD9:269.8|NCIT:C34952|ICD9:263.9|DOID:11801|ICD9:263.8|ICD10:E46|SCTID:238107002 owl:Class CL:0000826 biolink:NamedThing pro-B cell A progenitor cell of the B cell lineage, with some lineage specific activity such as early stages of recombination of B cell receptor genes, but not yet fully committed to the B cell lineage until the expression of PAX5 occurs. tmpaxzxjjyw_mondo_relaxed.owl pre-pro B cell|pre-B cell (Philadelphia nomenclature)|pro-B-cell|pro-B lymphocyte|progenitor B-cell|progenitor B-lymphocyte|progenitor B lymphocyte|progenitor B cell|pro-B-lymphocyte BTO:0003104 Human pro-B cells are reportedly CD10-positive, CD22-positive, CD34-positive, CD38-positive, CD45-low, CD48-positive, CD79a-positive, CD127-positive, CD184-positive, RAG-positive, TdT-positive, Vpre-B-positive, pre-BCR-negative, IgD-negative, and IgM-negative. Transcription factors expressed: Pax5-positive, EBF-positive, E2A-negative, Ikaros-negative, and PU.1-negative. cell owl:Class CL:0000838 biolink:NamedThing lymphoid lineage restricted progenitor cell A progenitor cell restricted to the lymphoid lineage. tmpaxzxjjyw_mondo_relaxed.owl lymphoid progenitor cell CALOHA:TS-2025|FMA:70338|BTO:0004731 Note that this is a class of cell types, not an identified single cell type. cell owl:Class GO:0060271 biolink:NamedThing cilium assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpaxzxjjyw_mondo_relaxed.owl cilium assembly|cilium biogenesis|ciliogenesis|cilium morphogenesis|microtubule-based flagellum assembly|cilium organization|cilium formation owl:Class GO:0120031 biolink:NamedThing plasma membrane bounded cell projection assembly Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. tmpaxzxjjyw_mondo_relaxed.owl eupodium owl:Class GO:0014058 biolink:NamedThing negative regulation of acetylcholine secretion, neurotransmission Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of acetylcholine. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of acetylcholine secretion|inhibition of acetylcholine secretion|downregulation of acetylcholine secretion|down regulation of acetylcholine secretion owl:Class MONDO:0020305 biolink:NamedThing isochromosomy Yq Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98798|ICD10:Q98.6 owl:Class MONDO:0019935 biolink:NamedThing isochromosome Y tmpaxzxjjyw_mondo_relaxed.owl Isochromosome type Y Orphanet:96325|ICD10:Q98.6 owl:Class MONDO:0020218 biolink:NamedThing goniodysgenesis tmpaxzxjjyw_mondo_relaxed.owl SCTID:251730004|Orphanet:98633 owl:Class MONDO:0020216 biolink:NamedThing secondary dysgenetic glaucoma A hereditary disease that is associated with congenital ocular anomalies such as conditions associated with mesodermal dysgenesis of the neural crest, phakomatoses characterized by hamartomas, metabolic disorders, mitotic disorders, and other congenital disorders and associated with acquired conditions such as tumors, uveitis, and trauma. tmpaxzxjjyw_mondo_relaxed.owl secondary congenital glaucoma Orphanet:98631 owl:Class UBERON:0004988 biolink:NamedThing mucosa of cystic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011112 biolink:NamedThing tibiofibular joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003840 biolink:NamedThing hindlimb joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013382 biolink:NamedThing progressive demyelinating neuropathy with bilateral striatal necrosis Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities. tmpaxzxjjyw_mondo_relaxed.owl striatal Necrosis, bilateral, and progressive polyneuropathy|bilateral striatal Degeneration and progressive polyneuropathy|THMD4|progressive polyneuropathy with bilateral striatal necrosis|thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type) OMIM:613710|UMLS:C3150973|Orphanet:217396 owl:Class PATO:0000068 biolink:NamedThing qualitative tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018414 biolink:NamedThing female infertility due to an implantation defect of genetic origin tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 ICD10:N97.2|Orphanet:400025 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: female infertility' MONDO_0021124 owl:Class MONDO:0018403 biolink:NamedThing female infertility due to an implantation defect tmpaxzxjjyw_mondo_relaxed.owl rare female infertility due to an implantation defect 2022-03-01 ICD10:N97.2|Orphanet:399882 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: female infertility' MONDO_0021124 owl:Class MONDO:0001406 biolink:NamedThing peripheral nervous system neoplasm A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths. tmpaxzxjjyw_mondo_relaxed.owl tumor of PNS|tumor of the PNS|neoplasms, PNS|neoplasm of the peripheral nerve|peripheral nerve tumor|PNS tumor|neoplasm of peripheral nervous system|nerve sheath neoplasm|nerve sheath tumors|tumor of peripheral nerve|neoplasms, peripheral nervous system|PNS neoplasms|tumor of the peripheral nervous system|neoplasm of peripheral nerve|peripheral nervous system neoplasm|tumor of peripheral nervous system|neoplasm of the PNS|CNS-excluded nervous sys. cancer|tumor of the peripheral nerve|peripheral nervous system tumor|neoplasm of PNS|PNS neoplasm|peripheral nerve neoplasm|neoplasm of the peripheral nervous system|peripheral nervous system neoplasm (disease) DOID:1192|UMLS:C0031118|NCIT:C3321|NCIT:C4972|MESH:D018317|ONCOTREE:PNS|MESH:D010524|ICD9:239.2|SCTID:126980002 owl:Class GO:0045861 biolink:NamedThing negative regulation of proteolysis Any process that stops, prevents, or reduces the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of peptidolysis|down regulation of proteolysis|downregulation of proteolysis|inhibition of proteolysis|down-regulation of proteolysis owl:Class MONDO:0013782 biolink:NamedThing pseudohypoaldosteronism type 2E Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene. tmpaxzxjjyw_mondo_relaxed.owl pseudohypoaldosteronism, type 2E|CUL3 pseudohypoaldosteronism type 2|pseudohypoaldosteronism type 2 caused by mutation in CUL3|pseudohypoaldosteronism type 2 caused by mutation in Cul3|pseudohypoaldosteronism, type IIE|PHA2E|Cul3 pseudohypoaldosteronism type 2 OMIM:614496|UMLS:C3469606|Orphanet:300530|ICD10:I15.1|Orphanet:757 owl:Class MONDO:0019162 biolink:NamedThing pseudohypoaldosteronism type 2 Pseudohypoaldosteronism type 2 (PHA2) is a rare inherited form of hypertension characterized by hyperkalemia, hyperchloremic metabolic acidosis, normal or elevated aldosterone, low renin, and normal renal function. tmpaxzxjjyw_mondo_relaxed.owl pseudohypoaldosteronism, type 2|PHA2|PHAII|Gordon syndrome|hyperkalemia-hypertension syndrome, Gordon type|chloride shunt syndrome|Spitzer-Weinstein syndrome|hyperpotassemia and hypertension familial|mineralocorticoid resistant hyperkalemia|familial hyperkalemic hypertension|hypertensive hyperkalemia|Gordon hyperkalemia-hypertension syndrome|pseudohypoaldosteronism, type II OMIM:614495|ICD10:I15.1|Orphanet:757|UMLS:C1449844|GARD:0004553|OMIM:614496|NCIT:C123252|OMIM:614492|SCTID:15689008|ICD9:588.89|OMIM:145260|OMIMPS:145260|OMIM:614491 owl:Class OBO:OBA_0000001 biolink:NamedThing biological attribute tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008305 biolink:NamedThing Currarino triad Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae). tmpaxzxjjyw_mondo_relaxed.owl Currarino syndrome|sacral agenesis, hereditary, with presacral Mass, anterior meningocele, and/or teratoma, and anorectal malformation|partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation|CURRARINO syndrome|Currarino triad|Scra1|sacral agenesis syndrome DOID:0111546|OMIM:176450|UMLS:C1531773|ICD9:759.89|Orphanet:1552|MESH:C536221|ICD10:Q87.8|UMLS:C1867774|SCTID:413936007|GARD:0001626 owl:Class HP:0004841 biolink:NamedThing Reduced factor XII activity Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. tmpaxzxjjyw_mondo_relaxed.owl Hageman factor deficiency|Factor XII deficiency SNOMEDCT_US:46981006|MSH:D005175|UMLS:C0015526 HP:0005551|HP:0008286|HP:0005514 human_phenotype owl:Class HP:0010989 biolink:NamedThing Abnormality of the intrinsic pathway An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023610 The intrinsic pathway requires coagulation factors VIII, IX, X, XI, and XII, as well as the proteins prekallikrein (PK) and high-molecular-weight kininogen (HK or HMWK), in addition to calcium ions and phospholipids secreted from platelets. peter 2011-02-08T04:26:55Z human_phenotype owl:Class MONDO:0044317 biolink:NamedThing premature ovarian failure 13 tmpaxzxjjyw_mondo_relaxed.owl premature ovarian failure 13|POF13 UMLS:C4479510|OMIM:617442 owl:Class ECTO:9001822 biolink:NamedThing exposure to antagonist An exposure to antagonist. tmpaxzxjjyw_mondo_relaxed.owl exposure to antagonist owl:Class MONDO:0018188 biolink:NamedThing genetic intestinal polyposis tmpaxzxjjyw_mondo_relaxed.owl familial intestinal polyposis Orphanet:363314|UMLS:C2713443|ICD10:D12.6 owl:Class HGNC:11582 biolink:NamedThing TBCE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019008 biolink:NamedThing benign recurrent intrahepatic cholestasis Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC). tmpaxzxjjyw_mondo_relaxed.owl cholestasis, benign recurrent intrahepatic|Bric|Summerskill-Walshe-Tygstrup syndrome UMLS:C0149841|OMIMPS:243300|OMIM:243300|SCTID:31155007|DOID:0070230|OMIM:605479|ICD10:K83.1|GARD:0012185|Orphanet:65682 https://rarediseases.info.nih.gov/diseases/12185/benign-recurrent-intrahepatic-cholestasis owl:Class MONDO:0017755 biolink:NamedThing inborn disorder of bilirubin metabolism An instance of bilirubin metabolism disease that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl bilirubin metabolism disorder|inborn disorder of bilirubin metabolism and excretion|disorder of bilirubin metabolism and excretion|hereditary bilirubin metabolism disease|disorder of bilirubin metabolism UMLS:CN227200|Orphanet:309816 owl:Class UBERON:0008969 biolink:NamedThing dental follicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009877 biolink:NamedThing metapodium region tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007622 biolink:NamedThing rhythmic behavior The specific behavior of an organism that recur with measured regularity. tmpaxzxjjyw_mondo_relaxed.owl rhythmic behavioural response to stimulus|rhythmic behavioral response to stimulus|rhythmic behaviour owl:Class GO:0048511 biolink:NamedThing rhythmic process Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism. tmpaxzxjjyw_mondo_relaxed.owl rhythm owl:Class MONDO:0009925 biolink:NamedThing autosomal recessive inherited pseudoxanthoma elasticum An autosomal recessive form of PXE. tmpaxzxjjyw_mondo_relaxed.owl Gronblad Strandberg syndrome|Gronblad-Strandberg syndrome|Gronblad-Strandberg-Touraine syndrome|AR inherited pseudoxanthoma elasticum|PXE, modifier of severity of|pseudoxanthoma elasticum, modifier of severity of|PXE|pseudoxanthoma elasticum MESH:D011561|SCTID:72744008|UMLS:C0033847|ICD9:757.39|MedDRA:10037150|OMIM:264800|DOID:2738|SCTID:252246005|Orphanet:758|OMIM:177850|ICD10:Q82.8|SCTID:402782006|NCIT:C85036 https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum owl:Class GO:0008652 biolink:NamedThing cellular amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents. tmpaxzxjjyw_mondo_relaxed.owl cellular amino acid formation|amino acid biosynthetic process|cellular amino acid anabolism|cellular amino acid synthesis|cellular amino acid biosynthesis owl:Class UBERON:0004806 biolink:NamedThing vas deferens epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8622 biolink:NamedThing PAX8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011978 biolink:NamedThing CoQ-responsive OXPHOS deficiency tmpaxzxjjyw_mondo_relaxed.owl CoQ-responsive OXPHOS deficiency|CoQ-responsive oxidative phosphorylation disorder GARD:0010240|UMLS:C1842463|MESH:C535470|OMIM:608158 owl:Class ECTO:9002059 biolink:NamedThing exposure to food packaging gas An exposure to food packaging gas. tmpaxzxjjyw_mondo_relaxed.owl exposure to food packaging gas owl:Class HGNC:45 biolink:NamedThing ABCB4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003133 biolink:NamedThing exudative glomerulonephritis Inflammation of the glomeruli with infiltration by polymorphonuclear leukocytes. tmpaxzxjjyw_mondo_relaxed.owl DOID:4777|NCIT:C35706|UMLS:C0546345 owl:Class MONDO:0009411 biolink:NamedThing autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. tmpaxzxjjyw_mondo_relaxed.owl APS1|aire autoimmune polyendocrinopathy|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|APS type 1|polyglandular autoimmune syndrome, type 1|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)|hypoadrenocorticism with hypoparathyroidism and superficial Moniliasis|autoimmune polyendocrinopathy syndrome, type I, autosomal dominant|autoimmune polyglandular syndrome I|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|polyglandular deficiency syndrome, Persian-Jewish type|autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome|autoimmune polyendocrinopathy type 1|multiple endocrine deficiency-Addison disease-candidiasis syndrome|Whitaker syndrome|APECED syndrome|autoimmune polyglandular syndrome, type 1|hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome|PGA 1|autoimmune polyglandular syndrome type 1|AIRE autoimmune polyendocrinopathy|MEDAC syndrome|APS 1|ham syndrome|Whitaker syndrom|autoimmune polyendocrine syndrome type 1|autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia|autoimmune polyendocrinopathy syndrome type 1|autoimmune polyendocrinopathy caused by mutation in aire|autoimmune polyendocrinopathy caused by mutation in AIRE|polyglandular autoimmune syndrome type 1 GARD:0008466|ICD9:258.8|Orphanet:3453|NCIT:C129727|SCTID:11244009|ICD10:E31.0|DOID:0050167|OMIM:240300|UMLS:C0085859|GARD:0005558 owl:Class UBERON:0007644 biolink:NamedThing thoracic lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000029 biolink:NamedThing lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010541 biolink:NamedThing tarsus cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005330 biolink:NamedThing mesonephric nephron epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005953 biolink:NamedThing scirrhous adenocarcinoma An infiltrating adenocarcinoma characterized by the presence of desmoplastic stromal reaction. tmpaxzxjjyw_mondo_relaxed.owl fibrocarcinoma|scirrhous adenocarcinoma (morphologic abnormality)|scirrhous carcinoma|scirrhous adenocarcinoma|FIBROADENOCARCINOMA, malignant|adenocarcinoma with productive fibrosis DOID:4024|NCIT:C2928|MESH:D002293|UMLS:C0007135|EFO:0007478|ICDO:8141/3 owl:Class UBERON:0005090 biolink:NamedThing muscle structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009263 biolink:NamedThing gapo syndrome GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations tmpaxzxjjyw_mondo_relaxed.owl Growth retardation, alopecia, pseudoanodontia, and optic atrophy|gapo syndrome|Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome|Growth retardation, alopecia, pseudoanodontia and optic atrophy Orphanet:2067|OMIM:230740|SCTID:721843003|ICD10:Q87.8|GARD:0000400 https://rarediseases.info.nih.gov/diseases/400/gapo-syndrome owl:Class MONDO:0010437 biolink:NamedThing severe X-linked mitochondrial encephalomyopathy Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial encephalomyopathy due to COXPD6|combined oxidative phosphorylation deficiency type 6|encephalomyopathy, mitochondrial, X-linked|COXPD6|combined oxidative phosphorylation deficiency 6|mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 ICD10:G31.8|OMIM:300816|UMLS:C4302745|Orphanet:238329|SCTID:722212004|UMLS:C3151753|DOID:0111502 owl:Class MONDO:0012102 biolink:NamedThing glaucoma 1, open angle, K tmpaxzxjjyw_mondo_relaxed.owl glaucoma 1, open angle, K|JOAG1K|glaucoma, primary open angle, juvenile-onset, 3|GLC1K UMLS:C1837527|MESH:C563873|OMIM:608696|Orphanet:98977 owl:Class MONDO:0020367 biolink:NamedThing juvenile open angle glaucoma Juvenile glaucoma (JG) is a rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment. tmpaxzxjjyw_mondo_relaxed.owl glaucoma of childhood|pediatric glaucoma (disease)|juvenile glaucoma|childhood glaucoma (disease)|JOAG|glaucoma (disease) of childhood MedDRA:10064032|OMIM:137750|OMIM:231300|OMIM:611274|SCTID:71111008|OMIM:608695|UMLS:C2981140|OMIM:608696|ICD9:365.14|OMIM:610535|Orphanet:98977|DOID:1068 owl:Class MONDO:0008460 biolink:NamedThing splenogonadal fusion-limb defects-micrognathia syndrome Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations. tmpaxzxjjyw_mondo_relaxed.owl splenogonadal fusion limb defect syndrome|splenogonadal fusion with limb defects and micrognathia|SGFLD syndrome|Sgfld syndrome|splenogonadal fusion limb defects syndrome|splenogonadal fusion limb defects micrognatia UMLS:C1866745|Orphanet:2063|MESH:C537318|SCTID:726724005|GARD:0004963|OMIM:183300|ICD10:Q87.8 owl:Class MONDO:0002702 biolink:NamedThing ovarian cystadenocarcinoma An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl cystadenocarcinoma of the ovary|cystadenocarcinoma of ovary|ovarian cystadenocarcinoma|ovary cystadenocarcinoma UMLS:C1096638|NCIT:C5228|EFO:1001962|DOID:3605|SCTID:314191009 owl:Class MONDO:0005596 biolink:NamedThing cystadenocarcinoma A malignant cystic epithelial neoplasm arising from the glandular epithelium. The malignant epithelial cells invade the stroma. The cystic spaces contain serous or mucinous fluid. Representative examples include ovarian and pancreatic cystadenocarcinomas. tmpaxzxjjyw_mondo_relaxed.owl cystadenocarcinoma|cystadenocarcinoma (morphologic abnormality)|cystadenocarcinoma, malignant|cystadenocarcinoma NOS (morphologic abnormality) UMLS:C0010631|MESH:D003536|EFO:0006387|ICDO:8440/3|NCIT:C2971|DOID:3111 owl:Class MONDO:0003458 biolink:NamedThing uterine corpus adenofibroma A usually polypoid, benign neoplasm that arises from the endometrial cavity. It is characterized by the presence of a mesenchymal core component and an epithelial component that forms a lining on the mesenchymal core. tmpaxzxjjyw_mondo_relaxed.owl corpus uteri adenofibroma|uterine body adenofibroma|adenofibroma of the uterine body|adenofibroma of the body of uterus|adenofibroma of the uterine corpus|body of uterus adenofibroma|adenofibroma of corpus uteri|adenofibroma of the corpus uteri|adenofibroma of uterine body|adenofibroma of body of uterus|adenofibroma of uterine corpus NCIT:C6337|DOID:5475|UMLS:C1336901 owl:Class MONDO:0006071 biolink:NamedThing adenofibroma A benign neoplasm characterized by the presence of connective tissue stroma and epithelial structures. It occurs in the ovary, fallopian tube, uterine corpus, and cervix. Cases of adenofibroma of the ovary with low grade malignant potential have also been reported. tmpaxzxjjyw_mondo_relaxed.owl adenofibroma, no ICD-O subtype|female reproductive system adenofibroma|adenofibroma, benign|adenofibroma, no ICD-O subtype (morphologic abnormality)|benign mixed Muellerian tumor NCIT:C8984|EFO:1000070|MESH:D000232|UMLS:C0001422|DOID:2683|ICDO:9013/0 owl:Class UBERON:0003894 biolink:NamedThing liver primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0106118 biolink:NamedThing regulation of sterol biosynthetic process Any process that modulates the frequency, rate or extent of a sterol biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013617 biolink:NamedThing overgrowth-macrocephaly-facial dysmorphism syndrome This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl MMFD|macrocephaly, macrosomia, and facial dysmorphism syndrome|RNF135-related overgrowth syndrome 2022-03-01 SCTID:722122000|OMIM:614192|UMLS:C3280095|Orphanet:137634|ICD10:Q87.3 Reason: duplicate. This will be merged with MONDO:0013357 owl:Class MONDO:0021257 biolink:NamedThing glomus jugulare neoplasm A neoplasm (disease) that involves the jugular body. tmpaxzxjjyw_mondo_relaxed.owl tumor of jugular body|jugular body tumor|jugular body neoplasm|neoplasm of jugular body|jugular body neoplasm (disease) NCIT:C3061 Editor note: consider merging with jugulotympanic paraganglioma owl:Class MONDO:0014688 biolink:NamedThing short-rib thoracic dysplasia 14 with polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23. tmpaxzxjjyw_mondo_relaxed.owl SRTD14|short-rib thoracic dysplasia 14 with polydactyly ICD10:Q04.3|UMLS:C4225286|OMIM:616546|DOID:0110096 owl:Class HGNC:30078 biolink:NamedThing REEP6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010626 biolink:NamedThing hyper-IgM syndrome type 1 The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele. tmpaxzxjjyw_mondo_relaxed.owl HIGM1|HIGMX-1|HIGM|IHIS|hyper IgM syndrome 1|hyper IgM syndrome|immunodeficiency with hyper IgM type 1|hyperimmunoglobulin M syndrome|immunodeficiency with hyper-IgM, type 1|hyper-IgM syndrome type 1|X-linked hyper IgM syndrome|XHIGM|hyper-IgM syndrome due to CD40L deficiency|hyper IgM immunodeficiency, x-linked|hyper-IgM immunodeficiency, X-linked|hyper-IgM syndrome due to CD40 ligand deficiency|CD40 ligand deficiency|immunodeficiency 3|hyper-IgM syndrome|hyper-IgM syndrome, X-linked|X-linked hyper-IgM syndrome|XHIM|hyper-IgM syndrome 1 Wikidata:Q3508611|DOID:6620|OMIM:606843|ICD10:D80.5|NCIT:C61244|DOID:0060022|UMLS:C0398689|SCTID:403835002|Orphanet:183663|OMIM:308230|GARD:0000073|Orphanet:101088 This variant of the hyper-IgM syndrome is caused by mutation of the CD40LG gene. The genetic locus for this gene is Xq26. This gene codes for the CD40 ligand, which is expressed on T cells. When the CD40 ligand binds CD40 on B cells, then the B cell switches from producing IgM to producing IgA or IgG. https://rarediseases.info.nih.gov/diseases/73/immunodeficiency-with-hyper-igm-type-1 owl:Class MONDO:0015975 biolink:NamedThing hyper-IgM syndrome with susceptibility to opportunistic infections tmpaxzxjjyw_mondo_relaxed.owl HIGM with susceptibility to opportunistic infections Orphanet:183663|UMLS:CN200572|OMIM:308230|ICD10:D80.5|OMIM:606843 owl:Class MONDO:0004033 biolink:NamedThing familial ovarian carcinoma Ovarian carcinoma that has developed in relatives of patients that have a history of ovarian carcinoma. tmpaxzxjjyw_mondo_relaxed.owl familiar ovarian carcinoma|familial ovarian carcinoma|hereditary ovarian cancer|hereditary ovarian carcinoma DOID:6901|UMLS:C1333992|NCIT:C36102 owl:Class MONDO:0043786 biolink:NamedThing serositis Inflammation of a serous membrane. tmpaxzxjjyw_mondo_relaxed.owl serous membrane inflammation|Serositides|inflammation of serous membrane|serositis NCIT:C70428|MESH:D012700|SCTID:370469003 owl:Class MONDO:0020561 biolink:NamedThing myxoid/round cell liposarcoma Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS. tmpaxzxjjyw_mondo_relaxed.owl myxoid/round-cell liposarcoma|MRCLS ICD10:C49.9|ONCOTREE:MRLS|OMIM:613488|MESH:D018208|Orphanet:99967 owl:Class MONDO:0100084 biolink:NamedThing alpha-actinopathy A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance. tmpaxzxjjyw_mondo_relaxed.owl ACTA1 disease|actinopathy|alpha actinopathy|actin myopathy|alpha-actinopathy The most penetrant phenotype among all of the actinopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with ACTA1 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum. owl:Class GO:2001225 biolink:NamedThing regulation of chloride transport Any process that modulates the frequency, rate or extent of chloride transport. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0044070 biolink:NamedThing regulation of anion transport Any process that modulates the frequency, rate or extent of the directed movement of anions, atoms or small molecules with a net negative charge into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043103 biolink:NamedThing hypothyroidism due to iodide transport defect A condition associated with reduced active import of iodide across the basolateral membrane of the follicular cells of the thyroid gland. Inactivating mutations in the SLC5A5 gene encoding the sodium-iodide symporter are responsible for the condition. tmpaxzxjjyw_mondo_relaxed.owl iodide Transport defect|iodine accumulation defect|iodide transport failure|hypothyroidism due to iodide transport defect|iodine transport defect|hypothyroidism due to iodide concentration defect|iodide transport defect NCIT:C121747|SCTID:22558005|GARD:0002938|UMLS:C0271826 owl:Class MONDO:0015329 biolink:NamedThing malformation syndrome with short stature tmpaxzxjjyw_mondo_relaxed.owl malformation syndrome associated with short stature|congenital malformation syndrome and short stature|congenital malformation syndrome associated with short stature 2022-03-01 UMLS:CN199359|SCTID:205808005|Orphanet:139021 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class MONDO:0009715 biolink:NamedThing myotonia congenita, autosomal recessive Autosomal recessive form of myotonia congenita. tmpaxzxjjyw_mondo_relaxed.owl Becker disease|myotonia congenita, autosomal recessive|myotonia, generalized|autosomal recessive myotonia congenita UMLS:C0751360|OMIM:255700|Orphanet:614 owl:Class MONDO:0009710 biolink:NamedThing Thomsen and Becker disease A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia). tmpaxzxjjyw_mondo_relaxed.owl Batten-Turner congenital myopathy|myopathy, congenital|myotonia congenita MedDRA:10028655|NCIT:C84912|GARD:0012301|OMIM:255700|DOID:2106|ICD9:359.22|MedDRA:10043461|OMIM:255300|SCTID:726051002|Orphanet:614|OMIM:160800|ICD10:G71.12|UMLS:C0027127|ICD10:G71.1 owl:Class UBERON:0012085 biolink:NamedThing lumen of tertiary bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10288 biolink:NamedThing RP9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:23537 biolink:NamedThing DHTKD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004089 biolink:NamedThing basaloid carcinoma of the penis An aggressive, human papillomavirus-related squamous cell carcinoma that arises from the penis. It is characterized by the presence of nests of small malignant cells. The malignant cells tend to invade deeply into the adjacent tissues. Comedo-type necrosis is often present. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of the penis, basaloid type|basaloid carcinoma of the penis|basaloid squamous cell carcinoma of penis|BPSCC|basaloid carcinoma of penis|basaloid penile squamous cell carcinoma|penis basaloid carcinoma|penis basaloid squamous cell carcinoma|squamous cell carcinoma of penis, basaloid type|basaloid squamous cell carcinoma of the penis UMLS:C1332462|DOID:7047|ONCOTREE:BPSCC|NCIT:C6980 owl:Class MONDO:0020656 biolink:NamedThing human papillomavirus-related penile squamous cell carcinoma A squamous cell carcinoma that arises from the penis and is caused by human papillomavirus infection. Morphologic variants include basaloid carcinoma and warty carcinoma. tmpaxzxjjyw_mondo_relaxed.owl HPV-related penile squamous cell carcinoma|human papilloma virus-related penile squamous cell carcinoma|human papilloma virus related penile squamous cell carcinoma|human papillomavirus-related penile squamous cell carcinoma NCIT:C27682 owl:Class MONDO:0019931 biolink:NamedThing Leydig cell hypoplasia due to partial LH resistance tmpaxzxjjyw_mondo_relaxed.owl 46,XY DSD due to partial LH receptor inactivation|46,XY DSD due to partial LH resistance|Leydig cell hypoplasia due to partial luteinizing hormone resistance|46,XY disorder of sex developement due to partial LH receptor inactivation|Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation|46,XY disorder of sex developement due to partial luteinizing hormone resistance|46,XY DSD due to partial luteinizing hormone resistance|Leydig cell hypoplasia due to partial LH receptor inactivation|46,XY disorder of sex developement due to partial LH resistance ICD10:Q56.1|Orphanet:96266|UMLS:CN206848|OMIM:238320 owl:Class MONDO:0000956 biolink:NamedThing small intestine cancer A primary or metastatic malignant neoplasm involving the small intestine. tmpaxzxjjyw_mondo_relaxed.owl malignant small bowel tumor|small intestine cancer|malignant tumor of the small bowel|malignant small intestinal neoplasm|malignant neoplasm of the small intestine|malignant neoplasm of small intestine|malignant small intestine tumor|malignant neoplasm of the small bowel|malignant neoplasms of the small intestine|small bowel tumors|malignant tumor of the small intestine|malignant neoplasm of small bowel|malignant small bowel neoplasm|malignant tumor of small bowel|cancer of small intestine|malignant tumor of small intestine|malignant small intestine neoplasm UMLS:C0153425|GARD:0009385|NCIT:C7523|ICD9:152.9|ICD10:C17|DOID:10154|ICD10:C17.9 https://rarediseases.info.nih.gov/diseases/9385/small-intestine-cancer owl:Class MONDO:0014405 biolink:NamedThing STING-associated vasculopathy with onset in infancy STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation. tmpaxzxjjyw_mondo_relaxed.owl STING-associated vasculopathy, infantile-onset|SAVI ICD10:M35.8|SCTID:711164003|GARD:0012357|UMLS:C4040879|UMLS:C4014722|ICD9:279.8|DOID:0111457|Orphanet:425120|OMIM:615934 https://rarediseases.info.nih.gov/diseases/12357/sting-associated-vasculopathy-with-onset-in-infancy owl:Class GO:1903026 biolink:NamedThing negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding Any process that stops, prevents or reduces the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. tmpaxzxjjyw_mondo_relaxed.owl downregulation of RNA polymerase II regulatory region sequence-specific DNA binding|down-regulation of RNA polymerase II regulatory region sequence-specific DNA binding|inhibition of RNA polymerase II regulatory region sequence-specific DNA binding|down regulation of RNA polymerase II regulatory region sequence-specific DNA binding owl:Class MONDO:0005714 biolink:NamedThing congenital syphilis A life-threatening bacterial infection of the newborn caused by Treponema pallidum. It is transmitted to the infant from a mother with syphilis through the placenta during pregnancy. Signs and symptoms include irritability, fever, failure to thrive, saddle nose, cutaneous rash, and pneumonia. tmpaxzxjjyw_mondo_relaxed.owl congenital syphilis|mother-to-child transmission of syphilis|MTCT of syphilis ICD9:090.9|NCIT:C84649|UMLS:C0039131|DOID:9856|ICD10:A50|ICD9:090|SCTID:35742006|MESH:D013590|Orphanet:499009|ICD10:A50.9|EFO:0007219 owl:Class MONDO:0011660 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 22 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant deafness 22|deafness, autosomal dominant 22, with hypertrophic cardiomyopathy|autosomal dominant nonsyndromic deafness 22|DFNA22|deafness, autosomal dominant type 22|deafness, autosomal dominant nonsyndromic sensorineural 22|deafness, autosomal dominant 22|MYO6 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 22|DFNA 22|autosomal dominant nonsyndromic deafness caused by mutation in MYO6 ICD10:H90.3|OMIM:606346|Orphanet:90635|GARD:0009167|DOID:0110552|MESH:C538197 owl:Class UBERON:0010225 biolink:NamedThing thalamic complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019269 biolink:NamedThing gray matter of diencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002244 biolink:NamedThing Abnormality of the small intestine An abnormality of the small intestine. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025717 human_phenotype owl:Class MONDO:0004406 biolink:NamedThing adult central nervous system mixed germ cell tumor A mixed germ cell tumor of central nervous system that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl adult mixed germ cell tumor of central nervous system|mixed germ cell tumor of central nervous system of adults|Central nervous system Mixed germ cell tumor|adult central nervous system mixed germ cell tumor UMLS:C1332195|NCIT:C27402|DOID:7945 owl:Class UBERON:0007750 biolink:NamedThing metatarsophalangeal joint of pedal digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003696 biolink:NamedThing metatarsophalangeal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015987 biolink:NamedThing scimitar syndrome Scimitar syndrome is characterized by a combination of cardiopulmonary anomalies including partial anomalous pulmonary venous return connection of the right lung to the inferior caval vein leading to the creation of a left-to-right shunt. tmpaxzxjjyw_mondo_relaxed.owl Halasz syndrome|congenital pulmonary venolobar syndrome|hypogenetic lung syndrome|Epibronchial right pulmonary vein syndrome SCTID:39905002|ICD9:747.49|UMLS:C0036400|Orphanet:185|ICD10:Q26.8|MESH:D012587|MedDRA:10051951|NCIT:C85056 owl:Class MONDO:0017705 biolink:NamedThing congenital pulmonary venous return anomaly Congenital pulmonary venous return anomaly is a cardiac malformation where some or all of the pulmonary veins drain into the right atrium or the systemic veins, with or without the presence of pulmonary venous obstruction, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. The two main subtypes are congenital partial pulmonary venous return anomaly (PAPVC), where one or a few of the pulmonary veins are anomalous, and congenital total pulmonary venous return anomaly (TAPVC), where all of the pulmonary veins are anomalous. tmpaxzxjjyw_mondo_relaxed.owl APVR|TAPVR|congenital pulmonary venous connection anomaly|scimitar anomaly|anomalous pulmonary venous return|scimitar syndrome|TAPVR1|total anomalous pulmonary venous return|pulmonary venous return anomaly ICD10:Q26.3|GARD:0004599|ICD10:Q26.4|OMIM:106700|ICD10:Q26.2|UMLS:C0036400|Orphanet:3090 owl:Class GO:0032109 biolink:NamedThing positive regulation of response to nutrient levels Any process that activates or increases the frequency, rate or extent of a response to nutrient levels. tmpaxzxjjyw_mondo_relaxed.owl up regulation of response to nutrient levels|up-regulation of response to nutrient levels|upregulation of response to nutrient levels|stimulation of response to nutrient levels|activation of response to nutrient levels owl:Class GO:0032106 biolink:NamedThing positive regulation of response to extracellular stimulus Any process that activates, maintains or increases the rate of a response to an extracellular stimulus. tmpaxzxjjyw_mondo_relaxed.owl activation of response to extracellular stimulus|upregulation of response to extracellular stimulus|up regulation of response to extracellular stimulus|up-regulation of response to extracellular stimulus|stimulation of response to extracellular stimulus owl:Class HGNC:25763 biolink:NamedThing SMG9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0012719 biolink:NamedThing Functional abnormality of the gastrointestinal tract Abnormal functionality of the gastrointestinal tract. tmpaxzxjjyw_mondo_relaxed.owl Functional abnormality of the GI tract|GI dysfunction UMLS:C4022755 peter 2014-03-23T01:10:47Z human_phenotype owl:Class HP:0025032 biolink:NamedThing Abnormality of digestive system physiology A functional anomaly of the digestive system. tmpaxzxjjyw_mondo_relaxed.owl 2016-08-27 13:58:05+00:00 HPO:probinson human_phenotype owl:Class MONDO:0011122 biolink:NamedThing obesity disorder A disorder involving an excessive amount of body fat. tmpaxzxjjyw_mondo_relaxed.owl obesity disease|obesity Orphanet:521399|NIFSTD:nlx_dys_20090302|ICD10:E66.9|UMLS:C0028754|DOID:9970|HP:0001513|SCTID:414916001|EFO:0001073|NCIT:C3283|ICD9:278.00|Orphanet:71529|ICD9:278.0 Obesity is a complex disease that may involve multiple environmental and genetic causes. See the subclass monogenic disease for genetic subtypes owl:Class MONDO:0012862 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl motor timing quantitative trait locus|attention Deficit-hyperactivity disorder, susceptibility to, type 5|attention deficit-hyperactivity disorder, susceptibility to, 5|Adhd5 OMIM:612311 owl:Class MONDO:0012764 biolink:NamedThing RIDDLE syndrome An autosomal recessive disease characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature that has material basis in homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29. tmpaxzxjjyw_mondo_relaxed.owl RNF168 deficiency|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties|RIDDLE syndrome|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome ICD10:D82.8|DOID:0090113|MESH:C567453|UMLS:C2677792|Orphanet:420741|OMIM:611943|EFO:0009055 owl:Class MONDO:0004765 biolink:NamedThing intrinsic asthma An asthma that is triggered by factors not related to allergies such as anxiety, stress, exercise, cold air, dry air, hyperventilation, smoke, viruses, chemical irritants, autonomic imbalance, hormonal deficiencies and psychogenic influences. It is characterized by airway obstruction and inflammation that is at least partially reversible with medication. The symptoms include coughing, wheezing, shortness of breath or rapid breathing, and chest tightness. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155880|SCTID:266361008|ICD10:J45|DOID:9360|ICD9:493.1 owl:Class MONDO:0004979 biolink:NamedThing asthma A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety. tmpaxzxjjyw_mondo_relaxed.owl chronic obstructive asthma|chronic obstructive asthma with status asthmaticus|exercise induced asthma|exercise-induced asthma|chronic obstructive asthma with acute exacerbation|bronchial hyperreactivity OMIM:611064|DOID:2841|ICD9:493.81|OMIM:608584|OMIM:611960|ICD10:J45.90|UMLS:C0004096|KEGG:05310|HP:0002099|SCTID:31387002|EFO:0000270|ICD9:493|OMIM:607277|MESH:D001249|ICD9:493.9|NCIT:C28397|ICD10:J45.909|ICD10:J45|OMIM:600807|GARD:0010246 owl:Class MONDO:0001024 biolink:NamedThing pneumonic plague A plague in which the bacteria have infected the lungs. tmpaxzxjjyw_mondo_relaxed.owl primary pneumonic plague|secondary pneumonic plague DOID:10398|MESH:D010930|ICD9:020.5|UMLS:C0524688|ICD9:020.4|ICD9:020.3|SCTID:35339003|ICD10:A20.2 owl:Class HGNC:600 biolink:NamedThing APOA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2732534 biolink:NamedThing Piccovirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732422 biolink:NamedThing Quintoviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:23246 biolink:NamedThing MYPN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001897 biolink:NamedThing bilateral hyperactive labyrinth tmpaxzxjjyw_mondo_relaxed.owl hyperactive bilateral labyrinthine dysfunction|hyperactive labyrinth, bilateral SCTID:194373002|DOID:14165|ICD9:386.52|UMLS:C0155516 owl:Class HGNC:11654 biolink:NamedThing TCOF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019210 biolink:NamedThing kinase inhibitor activity Binds to and stops, prevents or reduces the activity of a kinase. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018328 biolink:NamedThing homozygous familial hypercholesterolemia tmpaxzxjjyw_mondo_relaxed.owl HoFH|homozygous familial hypercholesterolemia OMIM:603813|SCTID:238078005|OMIM:143890|ICD10:E78.0|Orphanet:391665|OMIM:602247 owl:Class MONDO:0005439 biolink:NamedThing familial hypercholesterolemia An inheritable form of hyperlipidemia, in which there are excess lipids in the blood. tmpaxzxjjyw_mondo_relaxed.owl familial hyperbetalipoproteinaemia|familial hypercholesteremia|Fredrickson type IIa hyperlipoproteinemia|type II hyperlipidemia|Fredrickson type IIa lipidaemia|hyperlipoproteinemia type II|hyperbetalipoproteinemia OMIM:603776|EFO:0004911|SCTID:190773008|OMIMPS:143890|DOID:13810|ICD9:V19.8|UMLS:CN118841|OMIM:144010|SCTID:398036000|OMIM:143890|ICD10:E78.0|NCIT:C34704 Editor note: TODO check xrefs owl:Class MONDO:0000978 biolink:NamedThing extrahepatic bile duct lipoma A rare benign adipose tissue neoplasm of the extrahepatic bile duct. tmpaxzxjjyw_mondo_relaxed.owl lipoma of extrahepatic bile duct|lipoma of the extrahepatic bile duct|extrahepatic bile duct lipoma DOID:10209|NCIT:C5854|UMLS:C1333509 owl:Class UBERON:0006846 biolink:NamedThing surface groove tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0700060 biolink:NamedThing leukemia, acute, X-linked X-linked form of acute leukemia tmpaxzxjjyw_mondo_relaxed.owl OMIM:308960 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0010643 biolink:NamedThing acute leukemia A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). tmpaxzxjjyw_mondo_relaxed.owl stem cell leukaemia|stem cell leukemia (disease)|acute leukemia|leukemia, acute, X-linked|stem cell leukemia|acute leukemia (disease) DOID:12603|OMIM:308960|SCTID:91855006|ICDO:9801/3|MESH:C564112|EFO:1000068|ICD9:208.00|HP:0002488|ICD10:C95.00|ICD9:208.0|NCIT:C9300|ICD10:C95.0 owl:Class MONDO:0007826 biolink:NamedThing incisors, shovel-shaped tmpaxzxjjyw_mondo_relaxed.owl incisors, shovel-shaped|Sinodonty OMIM:147400 owl:Class MONDO:0008341 biolink:NamedThing ptosis-strabismus-ectopic pupils syndrome Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl ptosis, strabismus, and ectopic pupils|ptosis strabismus ectopic pupils|McPherson-Hall syndrome Orphanet:2999|OMIM:178330|MESH:C566736|GARD:0004577|UMLS:C1867437 owl:Class MONDO:0032673 biolink:NamedThing basal ganglia calcification, idiopathic, 7, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl IBGC7|BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE OMIM:618317 owl:Class UBERON:0001884 biolink:NamedThing phrenic nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003443 biolink:NamedThing thoracic cavity nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020797 biolink:NamedThing decompression sickness A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death. tmpaxzxjjyw_mondo_relaxed.owl Bends|compressed-air disease|caisson disease|Caisson Diseases|Decompression Sickness|Divers' palsy|the bends|Caisson Disease|Rapture of the deep syndrome|Compressed air disease|Divers' paralysis|divers' palsy|Disease, Caisson|Caisson disease|CAISSON DIS|divers' paralysis|bends|Compressed-air disease|The bends|Diseases, Caisson|decompression sickness|Sickness, Decompression|Decompression sickness MESH:D003665|SCTID:89684003|UMLS:C0011119|ICD9:993.3 owl:Class MONDO:0002570 biolink:NamedThing high pressure neurological syndrome A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and seizures. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium. tmpaxzxjjyw_mondo_relaxed.owl MESH:D006610|DOID:3230|UMLS:C0019537 owl:Class MONDO:0040925 biolink:NamedThing latent yaws tmpaxzxjjyw_mondo_relaxed.owl latent yaws SCTID:186973005|UMLS:C0153240 owl:Class MONDO:0006019 biolink:NamedThing yaws An endemic, infectious, nonvenereal disease in humans that presents mainly in children younger than 15 years. The disease occurs primarily in warm, humid, tropical areas of Africa, Asia, South America, and Oceania, among poor rural populations where conditions of overcrowding and poor sanitation prevail. Infection with Treponema pertenue, a subspecies of Treponema pallidum, causes the disease. tmpaxzxjjyw_mondo_relaxed.owl Treponema pallidum subsp. pertenue caused disease or disorder|thymosis|Treponema pertenue infection|frambosie|Bouba|frambesia|Treponema pallidum subsp. pertenue disease or disorder|frambesia tropica|polypapilloma tropicum|Treponema pallidum subsp. pertenue infectious disease|endemic treponematoses UMLS:C0043388|ICD9:102|GARD:0007913|NCIT:C41353|DOID:10371|ICD10:A66|MESH:D015001|EFO:0007548|ICD10:A66.9|ICD9:102.9|ICD9:102.7|SCTID:70647001 https://rarediseases.info.nih.gov/diseases/7913/yaws owl:Class CL:0002637 biolink:NamedThing keratinized epithelial cell of the anal canal An epithelial cell of the anal canal that is keratinized. This cell type is found towards the lower, rectal end of the anal canal. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-07-08T02:08:40Z cell owl:Class CL:0002634 biolink:NamedThing epithelial cell of anal column An epithelial cell of the anal column. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-07-08T12:11:38Z cell owl:Class MONDO:0012482 biolink:NamedThing West Nile virus, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl WNV, susceptibility to|West Nile virus, susceptibility to OMIM:610379 owl:Class UBERON:0012287 biolink:NamedThing Rathkes pouch epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013362 biolink:NamedThing THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl Beaulieu-Boycott-Innes syndrome|microcephaly, intellectual disability, and distinctive facies, with Cardiac and genitourinary malformations|BBIS|BEAULIEU-BOYCOTT-Innes syndrome|microcephaly, mental retardation, and distinctive facies, with Cardiac and genitourinary malformations OMIM:613680|ICD10:Q87.0|Orphanet:363444|UMLS:C3150939 owl:Class MONDO:0021192 biolink:NamedThing odontogenic neoplasm A benign or malignant neoplasm arising from tooth-forming tissues. It occurs in the maxillofacial skeleton or the gingiva. Benign tumors are slow growing and are not associated with specific clinical symptoms. Pain is absent or slight. Malignant tumors are usually associated with rapid swelling and pain. tmpaxzxjjyw_mondo_relaxed.owl tumor of calcareous tooth|calcareous tooth neoplasm|calcareous tooth tumor|odontogenic tumor|calcareous tooth neoplasm (disease)|neoplasm of calcareous tooth|odontogenic neoplasm UMLS:C0028880|MESH:D009808|ICDO:9270/1|NCIT:C3286 owl:Class MONDO:0032934 biolink:NamedThing genitourinary and/or brain malformation syndrome tmpaxzxjjyw_mondo_relaxed.owl GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME|genitourinary and/or brain malformation syndrome|GUBS OMIM:618820 owl:Class MONDO:0013518 biolink:NamedThing pituitary hormone deficiency, combined, 6 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene. tmpaxzxjjyw_mondo_relaxed.owl pituitary hormone deficiency, combined, 6|pituitary hormone deficiency, combined, type 6|combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2|OTX2 combined pituitary hormone deficiencies, genetic form|CPHD6 Orphanet:95494|UMLS:C3151440|OMIM:613986 owl:Class MONDO:0013099 biolink:NamedThing combined pituitary hormone deficiencies, genetic form Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. tmpaxzxjjyw_mondo_relaxed.owl combined pituitary hormone deficiencies, genetic forms|multiple pituitary hormone deficiencies, genetic forms|genetic hypopituitarism|familial congenital hypopituitarism|pituitary hormone deficiency, combined|familial hypopituitarism OMIM:262600|OMIM:613038|ICD10:E23.0|SCTID:718182008|OMIMPS:613038|GARD:0010602|Orphanet:95494|GARD:0002252|OMIM:613986|OMIM:182230|UMLS:C2751608 https://rarediseases.info.nih.gov/diseases/2252/familial-hypopituitarism owl:Class FOODON:03420228 biolink:NamedThing extract, concentrate or isolate of plant or animal A physical-chemical component separated from the food source or its parts by extraction, centrifugation, filtration, heat processing, expressing or a similar process. The separated component may be converted through further processing. If this is done, the final substance is indexed. A water-extracted component may remain in aqueous dispersion. The extract, concentrate or isolate is indexed in preference to the anatomic part from which it is derived. For example, peanut oil is indexed under *PEANUT* combined wih *FAT OR OIL* rather than with *SEED OR KERNEL*. On the other hand, fruit and vegetable juices can be indexed under *FRUIT JUICE OR NECTAR* or *VEGETABLE JUICE* (A. PRODUCT TYPE); therefore the anatomic part of the plant should be indexed. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=C0228 Damion Dooley's note: Items in this branch will be merged into foodon food product branch. http://langual.org owl:Class FOODON:00001714 biolink:NamedThing food product component A food product which normally exists as an ingredient to another food product, rather than eaten on its own, and is more complex than a chemical food component. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012287 biolink:NamedThing Stickler syndrome, type I, nonsyndromic ocular tmpaxzxjjyw_mondo_relaxed.owl Stickler syndrome, atypical|rhegmatogenous retinal detachment, autosomal dominant|Stickler syndrome, type i, nonsyndromic ocular|Stickler syndrome, type I, predominantly ocular Orphanet:828|Orphanet:90653|UMLS:C1836081|UMLS:C1836080|OMIM:609508|Orphanet:209867 Editor note: check this owl:Class MONDO:0007160 biolink:NamedThing Stickler syndrome type 1 tmpaxzxjjyw_mondo_relaxed.owl Stickler syndrome, type I|Stickler syndrome, membranous vitreous type|STL1|Stickler syndrome type 1|Stickler syndrome, vitreous type 1|arthroophthalmopathy, hereditary progressive|Stickler syndrome, type 1 ICD10:Q87.5|MESH:C537492|OMIM:609508|Orphanet:828|Orphanet:90653|OMIM:108300|GARD:0005018 owl:Class UBERON:0003611 biolink:NamedThing respiratory system elastic tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021640 biolink:NamedThing grade III glioma A group of malignant gliomas that includes anaplastic astrocytoma, anaplastic oligodendroglioma, anaplastic oligoastrocytoma, and anaplastic ependymoma. tmpaxzxjjyw_mondo_relaxed.owl WHO grade III glioma|anaplastic glioma UMLS:C4287997|NCIT:C127816 owl:Class HGNC:12774 biolink:NamedThing WNT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005805 biolink:NamedThing dorsal aorta tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015169 biolink:NamedThing chronic diarrhea due to glucoamylase deficiency This syndrome is characterised by chronic diarrhoea in infancy or childhood in association with intestinal glucoamylase deficiency. tmpaxzxjjyw_mondo_relaxed.owl maltase glucoamylase deficiency|maltase-glucoamylase deficiency|chronic diarrhea due to glucoamylase deficiency Orphanet:103907|SCTID:716277000|UMLS:C4275068|ICD10:E74.3 owl:Class MONDO:0044751 biolink:NamedThing chronic diarrheal disease Chronic form of diarrheal disease. tmpaxzxjjyw_mondo_relaxed.owl diarrheal disease, chronic|chronic diarrhea SCTID:236071009|UMLS:C0401151 owl:Class MONDO:0027676 biolink:NamedThing congenital anomalies of kidney and urinary tract 2 Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene. tmpaxzxjjyw_mondo_relaxed.owl TBX18 congenital anomaly of kidney and urinary tract|ureteropelvic junction obstruction|congenital anomaly of kidney and urinary tract caused by mutation in TBX18|CAKUT2|hydronephrosis due to Pujo|congenital anomalies of kidney and urinary tract 2|multicystic renal dysplasia, bilateral|congenital anomalies of kidney and urinary tract type 2|pelviureteric junction obstruction DOID:0080207|OMIM:143400 owl:Class MONDO:0019719 biolink:NamedThing congenital anomaly of kidney and urinary tract A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. tmpaxzxjjyw_mondo_relaxed.owl congenital anomalies of the kidney and urinary tract|congenital anomaly of kidney and urinary tract|congenital anomalies of kidney and urinary tract|CAKUT|renal or urinary tract malformation MESH:C566906|OMIMPS:610805|UMLS:C1968949|DOID:0080205|Orphanet:93545 owl:Class MONDO:0012852 biolink:NamedThing inflammatory bowel disease 20 An inflammatory bowel disease that has material basis in variation in the chromosome region 10q23-q24. tmpaxzxjjyw_mondo_relaxed.owl inflammatory bowel disease type 20|inflammatory bowel disease 20|IBD20 DOID:0110898|OMIM:612288|UMLS:C2676781|MESH:C567361 owl:Class UBERON:5102544 biolink:NamedThing individual digit of digitopodial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017397 biolink:NamedThing constitutional dyserythropoietic anemia tmpaxzxjjyw_mondo_relaxed.owl ICD10:D64.4|Orphanet:293830 owl:Class MONDO:0002280 biolink:NamedThing anemia A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability. tmpaxzxjjyw_mondo_relaxed.owl anemia (disease)|anemia|anaemia anemia (disease) ICD9:285.9|ICD10:D64.9|DOID:2355|ICD9:285.8|EFO:0004272|SCTID:271737000|MESH:D000740|HP:0001903|NCIT:C2869 owl:Class UBERON:0013645 biolink:NamedThing gular gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000085 biolink:NamedThing mononuclear cell of umbilical cord Any mononuclear cell that is part of a umbilical cord. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-12-02T20:14:16Z cell owl:Class MONDO:0100350 biolink:NamedThing neuronopathy, distal hereditary motor, type 5 tmpaxzxjjyw_mondo_relaxed.owl distal spinal muscular atrophy type 5|distal HMN V|dHMN5|distal hereditary motor neuropathy type V Orphanet:139536 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100481 biolink:NamedThing active tuberculosis Tuberculosis caused by primary infection of or reactivation of latent Mycobacterium tuberculosis. Active tuberculosis characterized by clinical manifestation and active symptoms compatible with tuberculosis, and is distinct from latent tuberculosis infection that occurs without signs or symptoms of active disease. tmpaxzxjjyw_mondo_relaxed.owl active TB http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0004134 biolink:NamedThing benign dermal neurilemmoma tmpaxzxjjyw_mondo_relaxed.owl benign schwannoma of the skin|benign skin schwannoma|benign neurilemmoma of skin|benign schwannoma of skin|benign skin neurilemmoma|benign dermal schwannoma|benign neurilemmoma of the skin DOID:7181|NCIT:C5569|UMLS:C1332490 owl:Class MONDO:0006105 biolink:NamedThing benign conjunctival neoplasm Abnormal growth of the cells of the conjunctiva without malignant characteristics. tmpaxzxjjyw_mondo_relaxed.owl benign conjunctiva tumor|benign neoplasm of the conjunctiva|benign conjunctiva neoplasm|benign tumor of the conjunctiva|conjunctiva benign neoplasm|benign neoplasm of conjunctiva|benign tumor of conjunctiva|benign conjunctival neoplasm|benign conjunctival tumor UMLS:C0154025|SCTID:92068002|EFO:1000110|NCIT:C3622 owl:Class MONDO:0022963 biolink:NamedThing desmoplastic infantile astrocytoma A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population consisting mainly of neoplastic astrocytes. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl Desmoplastic infantile astrocytoma|Desmoplastic astrocytoma of infancy|DIA ONCOTREE:DIA|ICDO:9412/1|UMLS:C0457179|NCIT:C9476|GARD:0009617 https://rarediseases.info.nih.gov/diseases/9617/desmoplastic-infantile-astrocytoma owl:Class MONDO:0016729 biolink:NamedThing mixed neuronal-glial tumor A group of central nervous system neoplasms with a variable amount of neuronal and, less consistently, glial differentiation. They occur at a low frequency and usually carry a favorable prognosis. Representative examples include dysplastic cerebellar gangliocytoma, desmoplastic infantile ganglioglioma, desmoplastic infantile astrocytoma, and dysembryoplastic neuroepithelial tumor. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl neuronal and mixed neuronal-glial tumors|neuronal and Glio-neuronal neoplasm|neuronal and mixed neuronal-glial tumor|neuronal and Glio-neuronal tumor UMLS:C0474844|NCIT:C4747|Orphanet:251934|UMLS:CN201977 owl:Class UBERON:0003128 biolink:NamedThing cranium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002285 biolink:NamedThing pupil disorder A disease involving the pupil. tmpaxzxjjyw_mondo_relaxed.owl disease of pupil|pupil disease or disorder|pupil disease|disease or disorder of pupil|disorder of pupil|pupillary disorder SCTID:68633000|UMLS:C0034124|DOID:238 owl:Class MONDO:0005804 biolink:NamedThing hyperprolactinemia Abnormally high level of prolactin in the blood. tmpaxzxjjyw_mondo_relaxed.owl inappropriate secretion prolactin|hyperprolactinemias|hypersecretion syndrome, prolactin|prolactin hypersecretion syndrome|syndrome, prolactin hypersecretion|hyperprolactinemia|inappropriate prolactin secretion syndrome|prolactin secretion, inappropriate|secretion prolactin, inappropriate|secretion, inappropriate prolactin|prolactin, inappropriate secretion|hyperprolactinaemia|inappropriate prolactin secretion|hyperprolactinemia (disease) hyperprolactinemia (disease) ICD10:E22.1|MESH:D002640|EFO:0007319|SCTID:237662005|MESH:D006966|UMLS:C0020514|HP:0000870|NCIT:C113168|ICD9:253.1 owl:Class HGNC:5103 biolink:NamedThing HOXA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020801 biolink:NamedThing rectal medullary carcinoma A rare, invasive rectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. tmpaxzxjjyw_mondo_relaxed.owl rectal medullary carcinoma NCIT:C60640 owl:Class MONDO:0002169 biolink:NamedThing rectum adenocarcinoma An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl rectal adenocarcinoma|read|adenocarcinoma of rectum|adenocarcinoma of the rectum|rectum adenocarcinoma|adenocarcinoma - rectum DOID:1996|NCIT:C9383|UMLS:C0149978|EFO:0005631|ONCOTREE:READ|SCTID:254582000 owl:Class MONDO:0018223 biolink:NamedThing systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood Systemic Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disease of childhood is a rare and very aggressive neoplastic disease emerging after a primary acute or chronic active EBV infection. It presents with persisting fever and malaise, hepatosplenomegaly with or without lymphadenopathy, liver failure, severe pancytopenia and a rapid progression towards multi-organ failure and hemophagocytic syndrome with a fatal issue. It is characterized by clonal proliferation of EBV-infected T cells with an activated cytotoxic phenotype. tmpaxzxjjyw_mondo_relaxed.owl systemic EBV-positive T-cell lymphoproliferative disease of childhood|systemic EBV-positive T-cell lymphoproliferative disorder of childhood|systemic EBV+ T-cell LPD of childhood|systemic EBV-positive T-cell lymphoma of childhood|EBV-positive T-cell lymphoproliferative disorder of childhood NCIT:C80374|ICD10CM:D47.9|ICD10:D47.9|Orphanet:364033|DOID:0070324|UMLS:CN204753|ICDO:9724/3|SCTID:721311006 owl:Class MONDO:0017343 biolink:NamedThing Epstein-Barr virus-associated malignant lymphoproliferative disorder tmpaxzxjjyw_mondo_relaxed.owl EBV-associated lymphoproliferative disorder Orphanet:289644|MedDRA:10068349|UMLS:C2363744 the classification of diseases such as HL and BL under this class is not consistent with MONDO design patterns, since not all instances of these diseases are caused by EBV owl:Class MONDO:0015529 biolink:NamedThing paroxysmal Hemicrania Paroxysmal hemicrania (PH) is a primary headache disorder characterized by multiple attacks of unilateral pain that occur in association with cranial autonomic symptoms. The hallmarks of this syndrome are the relative shortness of the attacks and the complete response to indomethacin therapy. tmpaxzxjjyw_mondo_relaxed.owl MESH:D051302|UMLS:C1399352|ICD10:G44.0|GARD:0010794|EFO:1001822|SCTID:443094001|Orphanet:157835|ICD9:339.03|MedDRA:10019461 https://rarediseases.info.nih.gov/diseases/10794/paroxysmal-hemicrania owl:Class MONDO:0015530 biolink:NamedThing trigeminal autonomic cephalalgia A headache disorder characterized by episodes of unilateral, short lasting pain and associated ipsilateral cranial autonomic symptoms. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G44.8|UMLS:C1565172|Orphanet:157843|SCTID:449814007|MESH:D051303|ICD9:339.09|NCIT:C117074 owl:Class UBERON:0001041 biolink:NamedThing foregut tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044632 biolink:NamedThing extracranial carotid artery aneurysm tmpaxzxjjyw_mondo_relaxed.owl ECAA|Ecca Orphanet:494424 owl:Class MONDO:0002353 biolink:NamedThing glottis neoplasm A benign or malignant neoplasm that affects the glottic area of the larynx. tmpaxzxjjyw_mondo_relaxed.owl glottis neoplasm (disease)|glottis neoplasm|tumor of glottis|neoplasm of the glottis|glottis tumor|neoplasm of glottis|tumor of the glottis NCIT:C4425|UMLS:C0345713|SCTID:126693009|DOID:2597 owl:Class UBERON:0002533 biolink:NamedThing post-anal tail bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009517 biolink:NamedThing Donohue syndrome Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation. tmpaxzxjjyw_mondo_relaxed.owl Donohue syndrome|leprechaunism|insulin receptor, defect 1N UMLS:C0265344|SCTID:33559001|UMLS:C0271695|ICD10:E34.8|NCIT:C84676|Orphanet:508|GARD:0006885|OMIM:246200|SCTID:111307005|MESH:D056731|DOID:0050470|ICD9:259.8 owl:Class GO:0035082 biolink:NamedThing axoneme assembly The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. tmpaxzxjjyw_mondo_relaxed.owl flagellum axoneme assembly|cilium axoneme assembly|ciliary axoneme assembly|flagellar axoneme assembly|axoneme biogenesis|cilium axoneme biogenesis owl:Class GO:0001578 biolink:NamedThing microtubule bundle formation A process that results in a parallel arrangement of microtubules. tmpaxzxjjyw_mondo_relaxed.owl microtubule bundling owl:Class MONDO:0011839 biolink:NamedThing Newfoundland cone-rod dystrophy Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene. tmpaxzxjjyw_mondo_relaxed.owl Newfoundland ROD-cone dystrophy|cone-rod dystrophy caused by mutation in RLBP1|RLBP1 cone-rod dystrophy|NFRCD OMIM:607476|DOID:0111015|UMLS:C1843815|MESH:C564391 owl:Class MONDO:0006709 biolink:NamedThing common bile duct neoplasm Tumor or cancer of the common bile duct including the ampulla of vater and the sphincter of oddi. tmpaxzxjjyw_mondo_relaxed.owl common bile duct tumor|tumor of common bile duct|common bile duct neoplasm (disease)|neoplasm of common bile duct UMLS:C0009442|MESH:D003138|SCTID:126857009|DOID:4608|EFO:1000876 owl:Class MONDO:0002886 biolink:NamedThing common bile duct disorder A disease involving the common bile duct. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of common bile duct|common bile duct disease|disorder of common bile duct|common bile duct disease or disorder|disease of common bile duct DOID:4137|MESH:D003137|UMLS:C0009440 owl:Class MONDO:0009130 biolink:NamedThing Dyggve-Melchior-Clausen disease Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias. tmpaxzxjjyw_mondo_relaxed.owl Dyggve-Melchior-Clausen disease|DMC syndrome|DMC|Dyggve-Melchior-Clausen syndrome|DMC disease|pseudo-Morquio disease type I ICD10:Q77.7|GARD:0006295|UMLS:C0265286|NCIT:C124844|OMIM:304950|Orphanet:239|DOID:0111167|SCTID:82699004|OMIM:223800 owl:Class MONDO:0016418 biolink:NamedThing multiple system atrophy, cerebellar type Multiple system atrophy, cerebellar type (MSA-c) is a form of multiple system atrophy (MSA) with predominant cerebellar features (gait and limb ataxia, oculomotor dysfunction, and dysarthria). tmpaxzxjjyw_mondo_relaxed.owl MSA, cerebellar type|sporadic olivopontocerebellar atrophy type 1|sporadic OPCA type 1|MSA-c Orphanet:227510|ICD10:G90.3|UMLS:CN201371 owl:Class MONDO:0007803 biolink:NamedThing multiple system atrophy Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years. tmpaxzxjjyw_mondo_relaxed.owl Shy-dragger syndrome (formerly)|susceptibility to multiple system atrophy 1|MSA|autonomic failure, Pure|hypotension, orthostatic|Shy-Drager syndrome|multisystem atrophy NCIT:C84909|EFO:1001050|DOID:4752|UMLS:C0393571|GARD:0007079|UMLS:C0037019|MedDRA:10064060|Orphanet:102|MESH:D019578|ICD10:G90.3|UMLS:C0393911 owl:Class MONDO:0006482 biolink:NamedThing ureter small cell carcinoma A rare carcinoma that arises from the ureter. It is characterized by the presence of small neuroendocrine cells. The prognosis is poor. tmpaxzxjjyw_mondo_relaxed.owl ureteral small cell carcinoma|small cell carcinoma of ureter|ureter small cell carcinoma|small cell carcinoma of the ureter NCIT:C6176|UMLS:C1336878|EFO:1000610|DOID:6886 owl:Class MONDO:0000402 biolink:NamedThing small cell carcinoma A neuroendocrine carcinoma composed of small malignant cells which are often said to resemble "oat cells" under the microscope. Small cell carcinoma most often affects the lungs. Clinically, this is often a rapidly growing cancer that spreads to distant sites early. tmpaxzxjjyw_mondo_relaxed.owl intermediate cell small cell carcinoma|small cell cancer|oat cell cancer|small cell carcinoma, intermediate cell (morphologic abnormality)|small cell carcinoma - intermediate cell|small cell NEC|small cell carcinoma, intermediate cell|small cell carcinoma|small cell carcinoma (extrapulmonary)|oat cell carcinoma|small cell car. (extrapulmonary)|small cell neuroendocrine carcinoma NCIT:C3915|EFO:0008524|SCTID:11010461000119101|ICDO:8042/3|UMLS:C0334239|ICDO:8041/3|UMLS:C0262584|MESH:D018288|DOID:0050685 owl:Class UBERON:0004453 biolink:NamedThing metacarpus region tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7329 biolink:NamedThing MSH6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0009029 biolink:NamedThing mesothelial cell of appendix A mesothelial cell that is located in a vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl mesothelial cell of appendix vermiformis|mesothelial cell of vermiform appendix|appendix mesothelial cell owl:Class MONDO:0030705 biolink:NamedThing Trichomonas prostatitis Infection of the prostate gland caused by Trichomonas vaginalis. tmpaxzxjjyw_mondo_relaxed.owl trichomonal prostatitis|Trichomonas vaginalis prostatitis (disease)|Trichomonas prostatitis|Trichomonas vaginalis caused prostatitis (disease) ICD9:131.03|SCTID:71590000|NCIT:C35176|UMLS:C0153315 owl:Class NCBITaxon:9913 biolink:NamedThing Bos taurus Cattle (colloquially cows) are the most common type of large domesticated ungulates. They are a prominent modern member of the subfamily *Bovinae*, are the most widespread species of the genus *Bos*, and are most commonly classified collectively as *Bos taurus*... with three subspecies: *Bos taurus primigenius, Bos taurus indicus, Bos taurus taurus*. tmpaxzxjjyw_mondo_relaxed.owl Bos taurus Linnaeus, 1758|domestic cow|cattle|Bos primigenius taurus|Bos bovis|cow|dairy cow|domestic cattle|bovine GC_ID:1 NCBITaxon:272461 ncbi_taxonomy owl:Class FOODON:03414374 biolink:NamedThing bovine The biological subfamily *Bovinae* includes a diverse group of 10 genera of medium- to large-sized ungulates, including domestic cattle, the bison, African buffalo, the water buffalo, the yak, and the four-horned and spiral-horned antelopes. The evolutionary relationship between the members of the group is obscure, and their classification into loose tribes rather than formal subgroups reflects this uncertainty. General characteristics include cloven hoofs and usually at least one of the sexes of a species having true horns. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905294 biolink:NamedThing positive regulation of neural crest cell differentiation Any process that activates or increases the frequency, rate or extent of neural crest cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl activation of neural crest cell differentiation|upregulation of neural crest cell differentiation|up-regulation of neural crest cell differentiation|up regulation of neural crest cell differentiation owl:Class MONDO:0043314 biolink:NamedThing aquarium granuloma A skin condition caused by Mycobacterium marinum, characterized by a skin lesion that presents roughly three weeks after exposure. tmpaxzxjjyw_mondo_relaxed.owl Mycobacterium marinum caused skin disease|swimming pool granuloma|aquarium granuloma|M. marinum|fish tank granuloma|Mycobacterium marinum skin disease|Mycobacterium marinum infection SCTID:240417004|MESH:C535526|GARD:0009712|UMLS:C0275708 owl:Class MONDO:0044342 biolink:NamedThing thoracic disc degenerative disorder Any degenerative disorder affecting one or more vertebral discs of the thoracic spine. tmpaxzxjjyw_mondo_relaxed.owl thoracic Disc degenerative disease|thoracic region of vertebral column intervertebral disc degenerative disorder|intervertebral disc degenerative disorder of thoracic region of vertebral column|degeneration of thoracic intervertebral disc|thoracic Disc Degeneration|thoracic Disc degenerative disorder SCTID:68675004|UMLS:C0263872|NCIT:C27155 owl:Class MONDO:0011385 biolink:NamedThing intervertebral disc degenerative disorder Any disease of a degenerative nature that affects the intervertebral disc. tmpaxzxjjyw_mondo_relaxed.owl IDD|degenerative disc disease|vertebral Disc degenerative disorder|intervertebral disc disease|intervertebral Disc degenerative disorder|vertebral disc disease|intervertebral Disc degenerative disease|lumbar disc degeneration|intervertebral Disc Degeneration|cervical disc degenerative disease|intervertebral disc degeneration|intervertebral disk degenerative disorder|vertebral Disc degenerative disease|degenerative disorder of intervertebral disk NCIT:C27156|UMLS:C0158266|ICD9:722.6|MESH:D055959|NCIT:C26983|EFO:0004994|SCTID:77547008|UMLS:C0410606|DOID:90 owl:Class HP:0002438 biolink:NamedThing Cerebellar malformation tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025708 human_phenotype owl:Class GO:1901616 biolink:NamedThing organic hydroxy compound catabolic process The chemical reactions and pathways resulting in the breakdown of organic hydroxy compound. tmpaxzxjjyw_mondo_relaxed.owl organic hydroxy compound catabolism|organic hydroxy compound breakdown|organic hydroxy compound degradation owl:Class MONDO:0013110 biolink:NamedThing neurodegenerative syndrome due to cerebral folate transport deficiency tmpaxzxjjyw_mondo_relaxed.owl cerebral folate deficiency syndrome|cerebral folate transport deficiency|neurodegenerative syndrome due to cerebral folate transport deficiency|neurodegeneration due to cerebral folate TRANSPORT deficiency|cerebral folate receptor alpha deficiency MESH:C567791|Orphanet:217382|ICD10:G31.8|SCTID:711403001|GARD:0010594|OMIM:613068|DOID:0050719|ICD9:266.2 owl:Class MONDO:0005528 biolink:NamedThing inborn vitamin metabolic disorder An acquired metabolic disease that is has its basis in the disruption of vitamin metabolic process. tmpaxzxjjyw_mondo_relaxed.owl rare inborn error of vitamin metabolic process|inborn vitamin metabolic process disorder|inborn error of vitamin metabolic process|vitamin metabolic disorder DOID:0050718|EFO:0005596 owl:Class NCBITaxon:1678143 biolink:NamedThing Orthohepevirus A tmpaxzxjjyw_mondo_relaxed.owl HEV|Hepatitis E virus HEV|Hepatitis E virus GC_ID:1 NCBITaxon:12461 ncbi_taxonomy owl:Class NCBITaxon:1678141 biolink:NamedThing Orthohepevirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0001678 biolink:NamedThing cellular glucose homeostasis A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. tmpaxzxjjyw_mondo_relaxed.owl cell glucose homeostasis owl:Class UBERON:0001355 biolink:NamedThing deep femoral artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013222 biolink:NamedThing Miyoshi muscular dystrophy 3 tmpaxzxjjyw_mondo_relaxed.owl Miyoshi muscular dystrophy type 3|MMD3|Miyoshi muscular dystrophy 3|distal anoctaminopathy|Miyoshi myopathy 3 ICD10:G71.0|Orphanet:399096|DOID:0070201|OMIM:613319|MESH:C567645|UMLS:C2750076 owl:Class MONDO:0009685 biolink:NamedThing Miyoshi myopathy A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes. tmpaxzxjjyw_mondo_relaxed.owl Miyoshi muscular dystrophy 1|MMD1|Miyoshi muscular dystrophy|Miyoshi distal myopathy|Miyoshi muscular dystrophy type 1|MM|muscular dystrophy, distal, late onset, autosomal recessive DOID:0070198|OMIM:613319|GARD:0009676|NCIT:C118846|MESH:C537480|Orphanet:45448|OMIM:613318|OMIM:254130|OMIMPS:254130|ICD10:G71.0 owl:Class MONDO:0016706 biolink:NamedThing chordoid glioma of the third ventricle A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates. tmpaxzxjjyw_mondo_relaxed.owl chordoid glioma of 3rd ventricle|chordoid glioma (morphologic abnormality)|chordoid glioma of the 3rd ventricle|third ventricle chordoid glioma|chordoid glioma|chordoid glioma of the third ventricle (WHO grade II)|chordoid glioma of the third ventricle|chordoid glioma of third ventricle ICD10:C71.9|GARD:0010636|SCTID:715900001|DOID:3774|UMLS:C1322252|ICDO:9444/1|ONCOTREE:CHGL|Orphanet:251674|DOID:3773|NCIT:C5592 MONDO:0002773 https://rarediseases.info.nih.gov/diseases/10636/chordoid-glioma-of-the-third-ventricle owl:Class MONDO:0021639 biolink:NamedThing grade II glioma A glioma arising from the central nervous system. This category includes diffuse astrocytoma, ependymoma, oligodendroglioma, and oligoastrocytoma. tmpaxzxjjyw_mondo_relaxed.owl WHO grade II glioma|grade II glioma UMLS:C4330050|NCIT:C132505 owl:Class UBERON:0005061 biolink:NamedThing neural groove tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000872 biolink:NamedThing positive regulation of progesterone secretion Any process that activates or increases the frequency, rate or extent of progesterone secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002697 biolink:NamedThing regulation of immune effector process Any process that modulates the frequency, rate, or extent of an immune effector process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014574 biolink:NamedThing peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome tmpaxzxjjyw_mondo_relaxed.owl plack syndrome|peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads|plack|peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome Orphanet:444138|ICD10:Q82.8|UMLS:C4225381|OMIM:616295 owl:Class MONDO:0007032 biolink:NamedThing prune belly syndrome Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes. tmpaxzxjjyw_mondo_relaxed.owl PBS|triad syndrome|eagle-Barret syndrome|eagle-Barrett syndrome|prune belly syndrome|syndrome of agenesis of abdominal muscles|abdominal muscles, absence of, with urinary tract Abnormality and cryptorchidism|Obrisnksy syndrome|Obrinsky syndrome|abdominal muscle deficiency syndrome Orphanet:2970|SCTID:5187006|ICD9:756.71|MedDRA:10051025|MESH:D011535|UMLS:C0033770|MESH:C536477|ICD10:Q79.4|OMIM:100100|NCIT:C85033|UMLS:C0265363|DOID:0060889|GARD:0007479 owl:Class HP:0002345 biolink:NamedThing Action tremor A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. tmpaxzxjjyw_mondo_relaxed.owl Ataxic tremor UMLS:C0234376|UMLS:C4020853|SNOMEDCT_US:30721006|MSH:D014202 Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors human_phenotype owl:Class HP:0001337 biolink:NamedThing Tremor An unintentional, oscillating to-and-fro muscle movement about a joint axis. tmpaxzxjjyw_mondo_relaxed.owl Tremors|Tremor SNOMEDCT_US:26079004|UMLS:C0040822|MSH:D014202 Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. HP:0001309|HP:0001295 human_phenotype owl:Class MONDO:0014226 biolink:NamedThing idiopathic CD4 lymphocytopenia Idiopathic CD4 lymphocytopenia (ICL) is a rare primary immunodeficiency disorder characterized by persistent CD4 T-cell lymphopenia (less than 300 cells/B5L on multiple occasions) not associated with any other underlying primary or secondary immune deficiency. Patients typically present opportunistic infections (with cryptococcal, mycobacterial, candidal, varicella zoster virus infections and progressive multifocal leukoencephalopathy being the most prevalent), malignancies (mainly lymphoproliferative disorders), or autoimmune disorders. Some individuals are asymptomatic and incidentally diagnosed. tmpaxzxjjyw_mondo_relaxed.owl idiopathic Cd4 lymphopenia|immunodeficiency type 13|IMD13|ICL|idiopathic CD4 positive T-lymphocytopenia|immunodeficiency 13 OMIM:615518|ICD10:D72.8|SCTID:763713000|GARD:0012375|UMLS:C3809768|Orphanet:228000 owl:Class UBERON:0003121 biolink:NamedThing pharyngeal arch artery 4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001797 biolink:NamedThing chancroid Chancroid is a bacterial infection that is spread through sexual contact. It is caused by a type of bacteria called Haemophilus ducreyi. Chancroid is characterized by a small bump on the genital which becomes a painful ulcer. Men may have just one ulcer, but women often develop four or more.About half of the people who are infected with a chancroid will develop enlarged inguinal lymph nodes, the nodes located in the fold between the leg and the lower abdomen. In some cases, the nodes will break through the skin and cause draining abscesses. The swollen lymph nodes and abscesses are often called buboes. Chancroid infections can be treated with antibiotics, including azithromycin, ceftriaxone, ciprofloxacin, and erythromycin. Large lymph node swellings need to be drained, either with a needle or local surgery. tmpaxzxjjyw_mondo_relaxed.owl Chancroids|Ulcus molle, skin ICD10:A57|ICD9:099.0|SCTID:266143009|GARD:0009522|DOID:13778|UMLS:C0007947|MESH:D002602 https://rarediseases.info.nih.gov/diseases/9522/chancroid owl:Class MONDO:0017454 biolink:NamedThing triphalangeal thumb-polysyndactyly syndrome Triphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a hand-foot malformation characterized by triphalangeal thumbs and pre- and postaxial polydactyly, isolated syndactyly or complex polysyndactyly. tmpaxzxjjyw_mondo_relaxed.owl TPT-PS syndrome ICD10:Q74.8|Orphanet:2950|UMLS:CN203197|OMIM:174500 owl:Class MONDO:0007412 biolink:NamedThing Beare-Stevenson cutis gyrata syndrome Cutis Gyrata-Acanthosis nigricans-craniosynthosis also known as Beare-Stevenson syndrome (BSS) is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia. Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy. tmpaxzxjjyw_mondo_relaxed.owl Beare-Stevenson cutis gyrata syndrome|Beare-Stevenson syndrome|Beare Stevenson syndrome|cutis gyrata syndrome of Beare and Stevenson|cutis gyrata - acanthosis nigricans - craniosynostosis|cutis gyrata-acanthosis nigricans-craniosynostosis syndrome|BSTVS NCIT:C123813|ICD9:759.89|UMLS:C1852406|ICD10:Q87.8|GARD:0000332|MESH:C565129|Orphanet:1555|DOID:0050660|OMIM:123790|SCTID:703528008 https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome owl:Class GO:0016469 biolink:NamedThing proton-transporting two-sector ATPase complex A large protein complex that catalyzes the synthesis or hydrolysis of ATP by a rotational mechanism, coupled to the transport of protons across a membrane. The complex comprises a membrane sector (F0, V0, or A0) that carries out proton transport and a cytoplasmic compartment sector (F1, V1, or A1) that catalyzes ATP synthesis or hydrolysis. Two major types have been characterized: V-type ATPases couple ATP hydrolysis to the transport of protons across a concentration gradient, whereas F-type ATPases, also known as ATP synthases, normally run in the reverse direction to utilize energy from a proton concentration or electrochemical gradient to synthesize ATP. A third type, A-type ATPases have been found in archaea, and are closely related to eukaryotic V-type ATPases but are reversible. tmpaxzxjjyw_mondo_relaxed.owl vacuolar hydrogen-transporting ATPase|hydrogen-transporting two-sector ATPase complex owl:Class GO:0098796 biolink:NamedThing membrane protein complex Any protein complex that is part of a membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016500 biolink:NamedThing acute sensory ataxic neuropathy Acute sensory ataxic neuropathy is a rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain. tmpaxzxjjyw_mondo_relaxed.owl ASAN|acute sensory ataxic GBS|acute sensory ataxic Guillain-Barré syndrome|acute sensory ataxic Guillain-BarrC) syndrome UMLS:CN201503|ICD10:G61.0|Orphanet:231466|SCTID:766049000 owl:Class MONDO:0016495 biolink:NamedThing functional variant of Guillain-Barre syndrome tmpaxzxjjyw_mondo_relaxed.owl functional variant of GBS|functional variant of Guillain-Barré syndrome Orphanet:231419|ICD10:G61.0|UMLS:CN201497 owl:Class MONDO:0014703 biolink:NamedThing Adams-Oliver syndrome 6 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene. tmpaxzxjjyw_mondo_relaxed.owl Adams-Oliver syndrome type 6|Adams-Oliver syndrome caused by mutation in DLL4|DLL4 Adams-Oliver syndrome|Adams-Oliver syndrome 6|AOS6 UMLS:C4225271|OMIM:616589 owl:Class MONDO:0022880 biolink:NamedThing corticobasal degeneration tmpaxzxjjyw_mondo_relaxed.owl corticodentatonigral degeneration with neuronal achromasia|cortical basal ganglionic degeneration|corticobasal degeneration SCTID:18842008 owl:Class MONDO:0024238 biolink:NamedThing cerebral degeneration A neurodegenerative disease that involves the telencephalon. tmpaxzxjjyw_mondo_relaxed.owl cerebral degeneration|telencephalon neurodegenerative disease|neurodegenerative disease of telencephalon SCTID:418143002|ICD9:331.9|UMLS:C0154671 owl:Class MONDO:0007182 biolink:NamedThing Machado-Joseph disease Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 autosomal dominant cerebellar ataxia (ADCA type 1), a neurodegenerative disorder, and is characterized by ataxia, external progressive ophthalmoplegia, and other neurological manifestations. tmpaxzxjjyw_mondo_relaxed.owl Machado-Joseph disease|Azorean disease|spinocerebellar atrophy type 3|MJD|spinocerebellar ataxia type 3|autosomal dominant striatonigral degeneration|Nigrospinodentatal Degeneration|spinocerebellar atrophy 3|spinocerebellar ataxia 3|Spinopontine atrophy|Azorean neurologic disease|Machado disease|Azorean disease of the nervous system|SCA3|Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia SCTID:91952008|UMLS:C0024408|MESH:D017827|NCIT:C84830|ICD10:G11.8|DOID:1440|Orphanet:98757|ICD9:336.8|OMIM:109150|GARD:0006801 owl:Class CHEBI:50904 biolink:NamedThing allergen A chemical compound, or part thereof, which causes the onset of an allergic reaction by interacting with any of the molecular pathways involved in an allergy. tmpaxzxjjyw_mondo_relaxed.owl alergeno|allergene|allergenic agent owl:Class MONDO:0014385 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A5 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene. tmpaxzxjjyw_mondo_relaxed.owl amelogenesis imperfecta type IIA5|amelogenesis imperfecta, hypomaturation type, IIA5|amelogenesis imperfecta hypomaturation type IIA5|AI2A5|SLC24A4 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in SLC24A4 Orphanet:100033|UMLS:C4014578|OMIM:615887|ICD10:K00.5|DOID:0110063 owl:Class MONDO:0017816 biolink:NamedThing primary systemic amyloidosis Primary systemic amyloidosis (PSA) is a form of AL amyloidosis caused by the aggregation and deposition of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by multiple organ involvement. tmpaxzxjjyw_mondo_relaxed.owl systemic Immunoglobulin Light chain amyloidosis|systemic amyloidosis|systemic AL amyloidosis UMLS:C0268380|ICD10:E85.2|ICD10:E85.0|ICD10:E85.3|ICD10:E85.1|OMIM:254500|NCIT:C8299|SCTID:89449005|Orphanet:314701|UMLS:C0281479 owl:Class MONDO:0019916 biolink:NamedThing maternal uniparental disomy of chromosome 16 tmpaxzxjjyw_mondo_relaxed.owl UPD(16)mat|maternal uniparental disomy of chromosome type 16 Orphanet:96185|ICD10:Q99.8 owl:Class MONDO:0002062 biolink:NamedThing breast myofibroblastoma A myofibroblastoma occurring in the breast of both women and men. It presents as a slowly growing mass. tmpaxzxjjyw_mondo_relaxed.owl breast myofibroblastoma NCIT:C40397|UMLS:C1511320|DOID:1629 owl:Class MONDO:0007067 biolink:NamedThing pyruvate kinase hyperactivity Autosomal dominant phenotype characterized by increase of red blood cell ATP. tmpaxzxjjyw_mondo_relaxed.owl adenosine triphosphate, elevated, of erythrocytes|pyruvate kinase hyperactivity UMLS:C1863224|MESH:C566310|EFO:0005840|OMIM:102900 owl:Class MONDO:0013671 biolink:NamedThing hydatidiform mole, recurrent, 2 Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene. tmpaxzxjjyw_mondo_relaxed.owl hydatidiform mole, recurrent, 2|hydatidiform Mole, recurrent, type 2|hydatidiform MOLE, recurrent, 2|hydatidiform Mole, complete|complete hydatidiform mole caused by mutation in KHDC3L|KHDC3L complete hydatidiform mole|HYDM2 Orphanet:99927|UMLS:C3280352|Orphanet:254688|UMLS:C0678213|OMIM:614293 owl:Class MONDO:0016785 biolink:NamedThing complete hydatidiform mole Complete hydatidiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of an enucleated ovocyte by one or two haploid spermatozoa that can manifest with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, risk of spontaneous miscarriage, hyperthyroidism, and has the potential of developing into choriocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl classical hydatidiform Mole|complete Mole|complete hydatid Mole|complete molar pregnancy NCIT:C4871|SCTID:237249000|Orphanet:254688|ICD10:O01.0|ONCOTREE:CHM|UMLS:C0678213|OMIM:614293|OMIM:231090 owl:Class GO:0051494 biolink:NamedThing negative regulation of cytoskeleton organization Any process that stops, prevents, or reduces the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cytoskeleton organisation|down regulation of cytoskeleton organization|negative regulation of cytoskeleton organization and biogenesis|down-regulation of cytoskeleton organization|inhibition of cytoskeleton organization|downregulation of cytoskeleton organization owl:Class UBERON:0034940 biolink:NamedThing venous sinus cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017186 biolink:NamedThing diazoxide-resistant hyperinsulinism Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulism caused by an abnormal insulin production by B-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. tmpaxzxjjyw_mondo_relaxed.owl diazoxide-resistant hyperinsulinemic hypoglycemia ICD10:E16.1|Orphanet:276585 owl:Class GO:0015874 biolink:NamedThing norepinephrine transport The directed movement of norepinephrine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Norepinephrine (3,4-dihydroxyphenyl-2-aminoethanol) is a hormone secreted by the adrenal medulla and a neurotransmitter in the sympathetic peripheral nervous system and in some tracts of the CNS. It is also the biosynthetic precursor of epinephrine. tmpaxzxjjyw_mondo_relaxed.owl levarterenol transport|noradrenaline transport owl:Class GO:0051175 biolink:NamedThing negative regulation of sulfur metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur. tmpaxzxjjyw_mondo_relaxed.owl inhibition of sulfur metabolic process|down-regulation of sulfur metabolic process|negative regulation of sulfur metabolism|negative regulation of sulphur metabolism|negative regulation of sulphur metabolic process|down regulation of sulfur metabolic process|downregulation of sulfur metabolic process owl:Class HGNC:17935 biolink:NamedThing CD207 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004267 biolink:NamedThing back connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100089 biolink:NamedThing GATA1-Related X-Linked Cytopenia X-Linked cytopenia characterized by anemia and/or thrombocytopenia. Additional features including platelet dysfunction, dyserythropoesis, mild beta-thalassemia, neutropenia, or congenital erythropoetic porphyria may be present. These GATA1 variants are germline as opposed to GATA1 variants seen in leukemia. tmpaxzxjjyw_mondo_relaxed.owl GATA1-Related X-Linked Cytopenia|GATA1-Related Cytopenia http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:10257 biolink:NamedThing ROR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004225 biolink:NamedThing respiratory system smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0120034 biolink:NamedThing positive regulation of plasma membrane bounded cell projection assembly Any process that activates or increases the frequency, rate or extent of plasma membrane bounded cell projection assembly. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0044089 biolink:NamedThing positive regulation of cellular component biogenesis Any process that activates or increases the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007418 biolink:NamedThing Darwinian tubercle of pinna tmpaxzxjjyw_mondo_relaxed.owl Darwinian point of Pinna|Darwinian tubercle of pinna|Darwinian Notch OMIM:124400|UMLS:C2751189|OMIM:124300 Editor notes: OMIM treats this as two diseases owl:Class MONDO:0015288 biolink:NamedThing herpes simplex virus keratitis A superficial, epithelial Herpesvirus hominis infection of the cornea, characterized by the presence of small vesicles which may break down and coalesce to form dendritic ulcers (keratitis, dendritic). (Dictionary of Visual Science, 3d ed) tmpaxzxjjyw_mondo_relaxed.owl dendritic keratitis|HSV keratitis|herpetic keratitis|Simplexvirus keratitis|Simplexvirus caused keratitis UMLS:C0022570|DOID:0080158|UMLS:C0019357|SCTID:9389005|Orphanet:137586|EFO:0007308|ICD10:H19.1*|NCIT:C34743|ICD10:B00.5+ owl:Class MONDO:0020950 biolink:NamedThing viral eye infection Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus. tmpaxzxjjyw_mondo_relaxed.owl OCULAR INFECT VIRAL|Eye Infections, Viral|VIRAL EYE INFECT|viral eye infection|Eye Infection, Viral|Viral eye infection|Ocular Infections, Viral|Ocular Infection, Viral|Viral Eye Infections|Viral Ocular Infection|EYE INFECT VIRAL|Infections, Viral Ocular|Infection, Viral Ocular|Infection, Viral Eye|Viral Eye Infection|Infections, Viral Eye|Viral Ocular Infections SCTID:312132001|UMLS:C0015407|MESH:D015828 owl:Class UBERON:0014871 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018132 biolink:NamedThing tail fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:72813 biolink:NamedThing exopolysaccharide A biomacromolecule composed of carbohydrate residues which is secreted by a microorganism into the surrounding environment. tmpaxzxjjyw_mondo_relaxed.owl exopolysaccharides|extracellular polymeric substance|extracellular polymeric substances owl:Class CHEBI:33694 biolink:NamedThing biomacromolecule A macromolecule formed by a living organism. tmpaxzxjjyw_mondo_relaxed.owl Biopolymere|biomacromolecules|biopolymers|biopolymer owl:Class UBERON:0002461 biolink:NamedThing anterior abdominal wall muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002378 biolink:NamedThing muscle of abdomen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021416 biolink:NamedThing polyp of gallbladder A polyp that involves the gall bladder. tmpaxzxjjyw_mondo_relaxed.owl polyp of the gallbladder|gallbladder polyp|gall bladder polyp NCIT:C3909|SCTID:197433003|UMLS:C0262493 owl:Class MONDO:0016668 biolink:NamedThing sickle cell-beta-thalassemia disease syndrome Sickle beta thalassemia is an inherited condition that affects hemoglobin, the protein in red blood cells that carries oxygen to different parts of the body.It is a type of sickle cell disease. Affected people havea differentchange (mutation) in each copy of their HBB gene: onethat causes red blood cells to form a 'sickle' or crescent shape and a second that is associated with beta thalassemia, a blood disorder that reduces the production of hemoglobin. Depending on the beta thalassemia mutation, people may have no normal hemoglobin (called sickle beta zero thalassemia) or a reduced amount of normal hemoglobin (called sickle beta plus thalassemia). The presence of sickle-shaped red blood cells, which often breakdown prematurely and can get stuck in blood vessels, combined with the reduction or absence of mature redblood cells leadsto the many signs and symptoms of sickle beta thalassemia. Features, which may include anemia (low levels of red blood cells), repeated infections, and frequent episodes of pain, generally develop in early childhood and vary in severity depending on the amount of normal hemoglobin made. Sickle beta thalassemia is inherited in an autosomal recessive manner. Treatment is supportive and depends on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl Hb S beta-thalassemia|Hb S-Beta thalassemia|sickle cell-beta-thalassemia disease syndrome|Hemoglobin sickle-beta thalassemia|HbS-beta-thalassemia syndrome|S-Beta thalassemia|HbS - beta-thalassemia|sickle cell-Beta thalassemia|sickle beta thalassemia|sickle cell-Beta-thalassemia|sickle cell - beta-thalassemia disease SCTID:127041004|ICD10:D57.2|Orphanet:251359|NCIT:C95539|GARD:0010333|MedDRA:10040655|MedDRA:10055579 https://rarediseases.info.nih.gov/diseases/10333/sickle-beta-thalassemia owl:Class MONDO:0016667 biolink:NamedThing sickle cell disease associated with an other hemoglobin anomaly tmpaxzxjjyw_mondo_relaxed.owl Double heterozygotes sickling disorder GARD:0012459|Orphanet:251355|UMLS:CN201907|ICD10:D57.2 https://rarediseases.info.nih.gov/diseases/12459/sickle-cell-disease-associated-with-an-other-hemoglobin-anomaly owl:Class MONDO:0030318 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 30 tmpaxzxjjyw_mondo_relaxed.owl SCAR30|spinocerebellar ataxia, autosomal recessive 30 OMIM:619405 owl:Class UBERON:0003654 biolink:NamedThing metatarsal bone of digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001448 biolink:NamedThing metatarsal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:29347 biolink:NamedThing monocarboxylic acid amide A carboxamide derived from a monocarboxylic acid. tmpaxzxjjyw_mondo_relaxed.owl monocarboxylic acid amides owl:Class MONDO:0100371 biolink:NamedThing acute hepatitis C virus infection A new infection by the hepatitis C virus, which can be detected in blood. Signs and symptoms may include right upper quadrant abdominal pain, jaundice, dark urine, white stools and nausea. Approximately 15%-25% individuals clear the virus from their bodies without treatment. 75%-85% individuals develop chronic hepatitis C. There are possible treatments depending on individual characteristics. tmpaxzxjjyw_mondo_relaxed.owl acute hepatitis C NCIT:C157782 owl:Class MONDO:0005231 biolink:NamedThing hepatitis C virus infection A viral infection caused by the hepatitis C virus. tmpaxzxjjyw_mondo_relaxed.owl NANBH|viral hepatitis C|hepatitis Nona nonB|Hepatitis C virus hepatitis|hepatitis type C|chronic hepatitis C|Hepatitis C virus caused hepatitis|non-A, non-B Hepatitis|hepatitis C infection ICD9:070.54|MESH:D019698|DOID:1883|ICD9:070.7|UMLS:C0019196|ICD10:B19.20|EFO:0003047|ICD9:070.41|ICD10:B19.2|NCIT:C3098|MESH:D006526|SCTID:128302006 owl:Class MONDO:0002741 biolink:NamedThing uterine ligament adenocarcinoma A rare adenocarcinoma that arises from the uterine ligament. tmpaxzxjjyw_mondo_relaxed.owl uterine ligament adenocarcinoma UMLS:C1519866|DOID:3700|NCIT:C40135 owl:Class MONDO:0003612 biolink:NamedThing uterine ligament cancer A primary or metastatic malignant neoplasm that affects the uterine ligament. tmpaxzxjjyw_mondo_relaxed.owl uterine ligament cancer|malignant neoplasm of uterine ligament|malignant uterine ligament neoplasm|cancer of uterine ligament DOID:5727|UMLS:C0864950|UMLS:C1519870|NCIT:C40133|NCIT:C126498 owl:Class MONDO:0005527 biolink:NamedThing toxic encephalopathy A group of neurologic disorders caused by damage to the nervous system following exposure to pharmacologic, biologic, and chemical agents. Examples of neurotoxins include chemotherapy agents, radiation treatment, heavy metals, pesticides, and food additives. tmpaxzxjjyw_mondo_relaxed.owl neurotoxicity syndromes|neurotoxicity|neurotoxicity syndrome NCIT:C27961|ICD10:G92|SCTID:28394000|MESH:D020258|EFO:0005595|ICD9:349.82|Wikipedia:Toxic_encephalopathy|DOID:3602|GARD:0007199 owl:Class MONDO:0010127 biolink:NamedThing thymoma, familial An instance of thymoma (disease) that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl thymic neoplasia|hereditary thymoma (disease)|thymoma, familial UMLS:C1848814|Orphanet:99867|OMIM:274230|MESH:C564767 owl:Class GO:0006869 biolink:NamedThing lipid transport The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019216 biolink:NamedThing regulation of lipid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. tmpaxzxjjyw_mondo_relaxed.owl regulation of lipid metabolism owl:Class GO:2000846 biolink:NamedThing regulation of corticosteroid hormone secretion Any process that modulates the frequency, rate or extent of corticosteroid hormone secretion. tmpaxzxjjyw_mondo_relaxed.owl regulation of corticosteroid secretion owl:Class MONDO:0017779 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity. tmpaxzxjjyw_mondo_relaxed.owl Schindler disease|NAGA deficiency|disorder of alpha-N-acetylgalactosaminidase activity|alpha-N-acetylgalactosaminidase activity disease ICD9:277.89|Orphanet:3137|OMIM:609241|ICD10:E77.1|SCTID:238048001|OMIM:609242 owl:Class HP:0001911 biolink:NamedThing Abnormal granulocyte morphology Any structural abnormality or abnormal count of granulocytes. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of granulocytes SNOMEDCT_US:250274006|UMLS:C0427515 HP:0005438 human_phenotype owl:Class HP:0010974 biolink:NamedThing Abnormal myeloid leukocyte morphology An abnormality of myeloid leukocytes. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of myeloid leukocytes UMLS:C4023618 A myeloid leukocyte refers to a cell of the monocyte, granulocyte, or mast cell lineage. peter 2011-02-06T09:24:46Z human_phenotype owl:Class MONDO:0009483 biolink:NamedThing kapur-Toriello syndrome Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation. tmpaxzxjjyw_mondo_relaxed.owl long columella with cleft Lip/palate and eye, heart, and intestinal anomalies|long columella with cleft lip/palate and eye, heart and intestinal anomalies|kapur-Toriello syndrome|cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome|kapur Toriello syndrome Orphanet:2328|OMIM:244300|SCTID:722031003|UMLS:C0796005|MESH:C537008|GARD:0003078|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/3078/kapur-toriello-syndrome owl:Class MONDO:0021400 biolink:NamedThing polyp of colon A polyp that involves the colon. tmpaxzxjjyw_mondo_relaxed.owl colonic polyp|colon polyp|polyp of the colon MESH:D003111|SCTID:68496003|NCIT:C2954|ICD10:K63.5 owl:Class GO:0007018 biolink:NamedThing microtubule-based movement A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007017 biolink:NamedThing microtubule-based process Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000860 biolink:NamedThing positive regulation of aldosterone secretion Any process that activates or increases the frequency, rate or extent of aldosterone secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000857 biolink:NamedThing positive regulation of mineralocorticoid secretion Any process that activates or increases the frequency, rate or extent of mineralocorticoid secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011933 biolink:NamedThing ALG2-CDG A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl CDG 1I|CDG-II|mannosyltransferase 2 deficiency|CDG II|carbohydrate-deficient glycoprotein syndrome type 1I|CDG1I|congenital disorder of glycosylation, type II|CDG syndrome type II|carbohydrate deficient glycoprotein syndrome type II|congenital disorder of glycosylation type II|ALG2-CDG (CDG-II)|congenital disorder of glycosylation type 1i DOID:0080561|OMIM:607906|GARD:0009836|Orphanet:79326|ICD10:E77.8 owl:Class MONDO:0019861 biolink:NamedThing thyroid hypoplasia Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10065938|OMIM:225250|OMIM:218700|Orphanet:95720|ICD10:E03.1 owl:Class MONDO:0019853 biolink:NamedThing congenital hypothyroidism due to developmental anomaly Thyroid dysgenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. tmpaxzxjjyw_mondo_relaxed.owl primary congenital hypothyroidism due to developmental anomaly 2022-03-01 ICD10:E03.1|Orphanet:95711 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. https://github.com/monarch-initiative/mondo/issues/3886 owl:Class MONDO:0017353 biolink:NamedThing neonatal glycine encephalopathy Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay. tmpaxzxjjyw_mondo_relaxed.owl neonatal NKH|neonatal non-ketotic hyperglycinemia|classic glycine encephalopathy UMLS:C0751748|Orphanet:289857|ICD10:E72.5 owl:Class MONDO:0020047 biolink:NamedThing autosomal recessive syndromic cerebellar ataxia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98099|UMLS:CN227742 owl:Class MONDO:0005595 biolink:NamedThing laryngeal squamous cell carcinoma A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of larynx|LXSC|laryngeal throat squamous cell cancer|larynx epidermoid carcinoma|epidermoid carcinoma of the larynx|laryngeal epidermoid carcinoma|epidermoid carcinoma of larynx|squamous cell carcinoma of the larynx|larynx squamous cell carcinoma|laryngeal squamous cell carcinoma NCIT:C4044|OMIM:275355|UMLS:C0280324|EFO:0006352|ONCOTREE:LXSC|SCTID:405822008|DOID:2876|Orphanet:494550 owl:Class MONDO:0013376 biolink:NamedThing microphthalmia, isolated, with coloboma 6 tmpaxzxjjyw_mondo_relaxed.owl MCOPCB6|microphthalmia, isolated, with coloboma 6|microphthalmia, isolated, with coloboma type 6 UMLS:C3150968|OMIM:613703|Orphanet:98938 owl:Class MONDO:0010454 biolink:NamedThing intellectual disability, XMEN-linked 88 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked 88|MRX88|intellectual disability, X-linked 88|intellectual disability, XMEN-linked 88 OMIM:300852|UMLS:C3275444|Orphanet:777 owl:Class GO:0006468 biolink:NamedThing protein phosphorylation The process of introducing a phosphate group on to a protein. tmpaxzxjjyw_mondo_relaxed.owl protein amino acid phosphorylation owl:Class GO:0006911 biolink:NamedThing phagocytosis, engulfment The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis. tmpaxzxjjyw_mondo_relaxed.owl phagosome biosynthesis|phagosome formation owl:Class GO:0099024 biolink:NamedThing plasma membrane invagination An infolding of the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:76729 biolink:NamedThing EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-CH group of donors (EC 1.3.*.*). tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase acting on donor CH-CH group (EC 1.3.*) inhibitors|inhibitors of oxidoreductase acting on CH-CH group of donor|oxidoreductase acting on donor CH-CH group (EC 1.3.*) inhibitor|EC 1.3.* inhibitors|inhibitor of oxidoreductase acting on CH-CH group of donor|EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitors|oxidoreductase acting on donor CH-CH group inhibitors|EC 1.3.* inhibitor|inhibitors of oxidoreductase acting on CH-CH group of donors|oxidoreductase acting on donor CH-CH group inhibitor|inhibitor of oxidoreductase acting on CH-CH group of donors owl:Class CHEBI:76725 biolink:NamedThing EC 1.* (oxidoreductase) inhibitor An enzyme inhibitor which interferes with the action of an oxidoreductase (EC 1.*.*.*). tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase inhibitor|EC 1.* (oxidoreductase) inhibitors|oxidoreductase (EC 1.*) inhibitor|oxidoreductase (EC 1.*) inhibitors|oxidoreductase inhibitors|EC 1.* inhibitor|EC 1.* inhibitors owl:Class UBERON:0015029 biolink:NamedThing manual digit 5 phalanx endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015023 biolink:NamedThing phalanx endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020840 biolink:NamedThing pulmonary alveolar proteinosis with hypogammaglobulinemia tmpaxzxjjyw_mondo_relaxed.owl pulmonary alveolar proteinosis with hypogammaglobulinemia|PAPHG UMLS:CN248786|OMIM:618042 owl:Class MONDO:0013154 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 2|MDDGA2|muscle-eye-brain-POMT2 related|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt2-related DOID:0111240|UMLS:C3150411|OMIM:613150|Orphanet:588|NCIT:C126742|Orphanet:899 owl:Class MONDO:0011525 biolink:NamedThing Carney complex type 2 tmpaxzxjjyw_mondo_relaxed.owl Carney complex, type 2|CNC2|Carney Myxoma-endocrine Complex, type 2 Orphanet:1359|OMIM:605244 owl:Class MONDO:0015285 biolink:NamedThing Carney complex Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas. tmpaxzxjjyw_mondo_relaxed.owl Carney Complex, type 1|Carney Complex, type 2|Carney complex|NAME syndrome|Myxoma - spotty pigmentation - endocrine overactivity|lamb syndrome|Carney syndrome|atrial myxoma with lentigines|Carney's syndrome|nevi, atrial myxoma, skin myxoma, ephelides syndrome|Myxoma-spotty pigmentation-endocrine overactivity syndrome|CNC|lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome|lamb ICD10:D44.8|GARD:0001119|SCTID:733491005|OMIM:160980|MESH:D056733|Orphanet:1359|DOID:0050471|UMLS:C0406810|NCIT:C4705|OMIM:608837|OMIM:605244 owl:Class GO:0030003 biolink:NamedThing cellular cation homeostasis Any process involved in the maintenance of an internal steady state of cations at the level of a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006873 biolink:NamedThing cellular ion homeostasis Any process involved in the maintenance of an internal steady state of ions at the level of a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019305 biolink:NamedThing immune deficiency with skin involvement tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:79391 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: immune system disease' MONDO_0005046 owl:Class MONDO:0000372 biolink:NamedThing pharynx carcinoma in situ Stage 0 carcinoma of the pharynx according to the American Joint Committee on Cancer, 6th, 7th, and 8th editions. tmpaxzxjjyw_mondo_relaxed.owl pharyngeal cancer stage 0|stage 0 pharyngeal cancer|pharynx in situ carcinoma|stage 0 pharynx carcinoma|stage 0 carcinoma of the pharynx|stage 0 pharyngeal carcinoma|carcinoma in situ of pharynx|stage 0 carcinoma of pharynx|carcinoma in situ of the pharynx|pharyngeal carcinoma in situ|stage 0 pharyngeal throat cancer|pharynx carcinoma in situ NCIT:C4942|SCTID:92681005|UMLS:C0347098|DOID:0050611 owl:Class MONDO:0015324 biolink:NamedThing cataract-intellectual disability-anal atresia-urinary defects syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. tmpaxzxjjyw_mondo_relaxed.owl cataract mental retardation anal atresia urinary defects|Karandikar-Maria-Kamble syndrome|congenital cataract with multiple congenital anomalies in a sibship|cataract intellectual disability anal atresia urinary defects|Karandikar Maria Kamble syndrome SCTID:715989002|GARD:0000192|MESH:C537009|ICD10:Q87.8|UMLS:C2931391|Orphanet:1381 owl:Class MONDO:0008208 biolink:NamedThing patella, familial recurrent dislocation of tmpaxzxjjyw_mondo_relaxed.owl patella, familial recurrent dislocation of OMIM:169000|MESH:C566816|UMLS:C1868575 owl:Class MONDO:0054842 biolink:NamedThing polycystic kidney disease 6 with or without polycystic liver disease Any polycystic kidney disease in which the cause of the disease is a mutation in the DNAJB11 gene. tmpaxzxjjyw_mondo_relaxed.owl polycystic kidney disease caused by mutation in DNAJB11|PKD6|polycystic kidney disease 6 with or without polycystic liver disease|DNAJB11 polycystic kidney disease UMLS:CN252647|OMIM:618061 owl:Class MONDO:0020642 biolink:NamedThing polycystic kidney disease A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. tmpaxzxjjyw_mondo_relaxed.owl fibrocystic renal disease|polycystic kidney disease|PKD - polycystic kidney disease SCTID:82525005|MESH:D007690|OMIMPS:173900|NCIT:C75464|DOID:0080322 https://github.com/monarch-initiative/mondo/issues/3532 owl:Class MONDO:0013473 biolink:NamedThing Hirschsprung disease, cardiac defects, and autonomic dysfunction tmpaxzxjjyw_mondo_relaxed.owl Hirschsprung disease, cardiac defects, and autonomic dysfunction|HCAD|Hirschsprung disease, CARDIAC defects, and autonomic dysfunction MESH:C563939|OMIM:613870|UMLS:C3151237 owl:Class MONDO:0001627 biolink:NamedThing dementia Loss of intellectual abilities interfering with an individual's social and occupational functions. Causes include Alzheimer's disease, brain injuries, brain tumors, and vascular disorders. tmpaxzxjjyw_mondo_relaxed.owl dementia (disease)|dementia dementia (disease) MESH:D003704|ICD9:294.8|GARD:0011946|ICD9:290.8|NCIT:C4786|ICD9:294.1|SCTID:52448006|DOID:1307 owl:Class MONDO:0007535 biolink:NamedThing emphysema, hereditary pulmonary tmpaxzxjjyw_mondo_relaxed.owl emphysema, hereditary pulmonary MESH:C565057|UMLS:C1851718|OMIM:130700 owl:Class OBO:CHR_9606-chr22q11 biolink:NamedThing 22q11 (Human) tmpaxzxjjyw_mondo_relaxed.owl 25500000 15000000 hg38 owl:Class MONDO:0005904 biolink:NamedThing pericarditis An inflammatory process affecting the pericardium. tmpaxzxjjyw_mondo_relaxed.owl pericarditis|pericarditis (disease)|pericardium inflammation|inflammation of pericardium pericarditis (disease) SCTID:3238004|MESH:D010493|Orphanet:58208|UMLS:C0031046|NCIT:C34915|EFO:0007427|DOID:1787|HP:0001701 owl:Class UBERON:0018150 biolink:NamedThing skin of lower lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033008 biolink:NamedThing Galloway-Mowat syndrome 4 tmpaxzxjjyw_mondo_relaxed.owl Galloway-Mowat syndrome 4|GAMOS4 DOID:0080246|OMIM:617730|Orphanet:2065|UMLS:CN570506 owl:Class ENVO:01000280 biolink:NamedThing ecozone Ecozones delineate large areas of a planetary surface within which organisms have been evolving in relative isolation over long periods of time, separated from one another by geographic features, such as oceans, broad deserts, or high mountain ranges, that constitute barriers to migration. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013631 biolink:NamedThing sesamoid element tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:28052 biolink:NamedThing XPNPEP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0011021 biolink:NamedThing fibroblast of upper back skin A fibroblast that is part of upper back skin. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0011022 biolink:NamedThing fibroblast of skin of back A fibroblast that is part of skin of back. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014455 biolink:NamedThing subcutaneous abdominal adipose tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003363 biolink:NamedThing malignant dermis tumor A malignant neoplasm involving the dermis. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of dermis|dermis cancer|malignant dermis tumor|malignant tumor of the dermis|cancer of dermis|malignant dermis neoplasm|malignant dermal neoplasm|malignant neoplasm of the dermis|malignant tumor of dermis DOID:5274|NCIT:C4574|UMLS:C0346811|SCTID:255096006 owl:Class MONDO:0013775 biolink:NamedThing thrombomodulin-related bleeding disorder tmpaxzxjjyw_mondo_relaxed.owl THPH12|thrombophilia due to thrombomodulin defect|THBD-related bleeding disorder|THBD-related coagulopathy|thrombomodulin-related coagulopathy Orphanet:436169|MESH:C566057|OMIM:614486|ICD10:D68.3|UMLS:C3280976 owl:Class MONDO:0016628 biolink:NamedThing hemorrhagic disorder due to a coagulation factors defect tmpaxzxjjyw_mondo_relaxed.owl rare coagulopathy due to a coagulation factor defect|rare bleeding disorder due to a coagulation factors defect 2022-03-01 Orphanet:248315|UMLS:CN226979 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemorrhagic disease' MONDO_0002243 https://github.com/monarch-initiative/mondo/issues/254 owl:Class CL:0007010 biolink:NamedThing preosteoblast Skeletogenic cell that has the potential to transform into an osteoblast, and develops from neural crest or mesodermal cells. tmpaxzxjjyw_mondo_relaxed.owl osteoprogenitor cell haendel 2012-06-27T10:57:21Z cell owl:Class MONDO:0016357 biolink:NamedThing dysplastic cortical hyperostosis tmpaxzxjjyw_mondo_relaxed.owl Kozlowski-Tsuruta syndrome GARD:0002022|ICD10:M89.8|UMLS:CN201209|Orphanet:2204 https://rarediseases.info.nih.gov/diseases/2022/dysplastic-cortical-hyperostosis owl:Class HP:0000525 biolink:NamedThing Abnormality iris morphology An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the iris UMLS:C4025845 human_phenotype owl:Class MONDO:0019424 biolink:NamedThing X-linked intellectual disability-acromegaly-hyperactivity syndrome X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227631|ICD10:Q87.8|Orphanet:85327 owl:Class MONDO:0002864 biolink:NamedThing anus rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the anus. tmpaxzxjjyw_mondo_relaxed.owl rhabdomyosarcoma (disease) of anus|rhabdomyosarcoma of the anus|anus rhabdomyosarcoma (disease)|anal rhabdomyosarcoma|rhabdomyosarcoma of anus NCIT:C5610|DOID:4066|UMLS:C1332276 owl:Class MONDO:0002853 biolink:NamedThing rectum rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the rectum. tmpaxzxjjyw_mondo_relaxed.owl rectal rhabdomyosarcoma|rectum rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of rectum|rhabdomyosarcoma of rectum|rhabdomyosarcoma of the rectum NCIT:C5627|DOID:4053|UMLS:C1335687 owl:Class UBERON:0010570 biolink:NamedThing manual digit 1 metacarpus cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015043 biolink:NamedThing manual digit 1 metacarpus endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6315 biolink:NamedThing Trichostrongylidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010028 biolink:NamedThing ventral part of pharyngeal pouch 4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015833 biolink:NamedThing foregut epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0033725 biolink:NamedThing Thin corpus callosum An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). tmpaxzxjjyw_mondo_relaxed.owl Thinning of the corpus callosum|Small corpus callosum 2021-04-07 16:39:13+00:00 peter human_phenotype owl:Class HP:0001273 biolink:NamedThing Abnormal corpus callosum morphology Abnormality of the corpus callosum. tmpaxzxjjyw_mondo_relaxed.owl Corpus callosum abnormality|Abnormal corpus callosum|Abnormality of the corpus callosum UMLS:C1842581 The corpus callosum, a broad thick band of nerve fibers that connects the right and left cerebral hemispheres, is the largest white matter structure in the brain. This finding can be demonstrated by cerebral magenetic resonance tomography. The corpus callosum structurally consists of 4 major anatomic features including the rostrum, genu, corpus, and splenium. HP:0007323 human_phenotype owl:Class UBERON:0002426 biolink:NamedThing chest muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005175 biolink:NamedThing chest organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:35278 biolink:NamedThing unclassified ssRNA positive-strand viruses tmpaxzxjjyw_mondo_relaxed.owl unclassified ssRNA positive-strand viruses, no DNA stage|ssRNA positive-strand viruses, no DNA stage|ssRNA positive-strand viruses GC_ID:1 NCBITaxon:38173 ncbi_taxonomy owl:Class NCBITaxon:439490 biolink:NamedThing unclassified ssRNA viruses tmpaxzxjjyw_mondo_relaxed.owl unassigned ssRNA viruses GC_ID:1 ncbi_taxonomy owl:Class CL:0000152 biolink:NamedThing exocrine cell A cell of an exocrine gland; i.e. a gland that discharges its secretion via a duct. tmpaxzxjjyw_mondo_relaxed.owl FMA:16014 cell owl:Class MONDO:0002184 biolink:NamedThing drug-induced hepatitis Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite. tmpaxzxjjyw_mondo_relaxed.owl drug-induced chronic hepatitis SCTID:235889003|DOID:2044|EFO:1000905 owl:Class MONDO:0005359 biolink:NamedThing drug-induced liver injury A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to acute liver failure, caused by drugs, drug metabolites, and chemicals from the environment. tmpaxzxjjyw_mondo_relaxed.owl drug-induced disorder of liver|drug induced hepatotoxicity SCTID:197352008|EFO:0004228|MESH:D056486 owl:Class MONDO:0017332 biolink:NamedThing pyoderma gangrenosum-acne-suppurative hidradenitis syndrome tmpaxzxjjyw_mondo_relaxed.owl pash syndrome Orphanet:289478|UMLS:CN202977|EFO:0009009 owl:Class UBERON:0012303 biolink:NamedThing ureteral orifice tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010418 biolink:NamedThing urethral opening tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016157 biolink:NamedThing qualitative or quantitative defects of fukutin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:207122 owl:Class GO:0034250 biolink:NamedThing positive regulation of cellular amide metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amides. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of amide metabolism owl:Class GO:0034654 biolink:NamedThing nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. tmpaxzxjjyw_mondo_relaxed.owl nucleobase, nucleoside, nucleotide and nucleic acid anabolism|nucleobase, nucleoside, nucleotide and nucleic acid formation|nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis|nucleobase, nucleoside, nucleotide and nucleic acid synthesis owl:Class GO:0019438 biolink:NamedThing aromatic compound biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. tmpaxzxjjyw_mondo_relaxed.owl aromatic compound synthesis|aromatic hydrocarbon biosynthesis|aromatic compound biosynthesis|aromatic compound formation|aromatic hydrocarbon biosynthetic process|aromatic compound anabolism owl:Class UBERON:0010233 biolink:NamedThing stroma of thyroid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003891 biolink:NamedThing stroma tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045912 biolink:NamedThing negative regulation of carbohydrate metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving carbohydrate. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of carbohydrate metabolism|down regulation of carbohydrate metabolic process|downregulation of carbohydrate metabolic process|inhibition of carbohydrate metabolic process|down-regulation of carbohydrate metabolic process owl:Class GO:0022857 biolink:NamedThing transmembrane transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl uptake permease activity|substrate-specific transmembrane transporter activity|substrate-specific transporter activity|uptake transmembrane transporter activity owl:Class UBERON:0034944 biolink:NamedThing zone of organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002726 biolink:NamedThing cutaneous solitary mastocytoma A variant of cutaneous mastocytosis which occurs as a single lesion usually in infants. It is found mostly in the wrist and trunk and there is no atypical cytomorphology. tmpaxzxjjyw_mondo_relaxed.owl solitary mastocytoma of skin|solitary mastocytoma of the skin|skin solitary mastocytoma ICDO:9740/1|DOID:3666|EFO:1001844|NCIT:C7138|MESH:D054705 owl:Class MONDO:0002724 biolink:NamedThing mast cell neoplasm A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl Mast cell tumor|mast cell neoplasm|neoplasm of the Mast cells|Mast cell proliferative disease|tumor of Mast cells|neoplasm of Mast cells|mast cell tumor|tumor of the Mast cells ICD9:238.79|NCIT:C9295|SCTID:414653009|DOID:3664|UMLS:C0334664|EFO:0009000|ICD10:D47.0 owl:Class MONDO:0003040 biolink:NamedThing retrograde amnesia The loss of access to memories that were previously encoded; this disorder is most commonly preceded by trauma, including physical brain injury, stroke, or seizure, but may also be psychogenic in origin. Memory loss may be temporary or permanent, but the ability to encode new memories or skills is not generally affected. tmpaxzxjjyw_mondo_relaxed.owl DOID:4543|NCIT:C34372|ICD10:R41.2|MESH:D000648 owl:Class GO:0005634 biolink:NamedThing nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. tmpaxzxjjyw_mondo_relaxed.owl cell nucleus|horsetail nucleus owl:Class GO:0044464 biolink:NamedThing cell part OBSOLETE. Any constituent part of a cell, the basic structural and functional unit of all organisms. tmpaxzxjjyw_mondo_relaxed.owl protoplast|cellular subcomponent CL:0000000 True owl:Class UBERON:0003464 biolink:NamedThing hindlimb bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014614 biolink:NamedThing congenital stationary night blindness 1G A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21. tmpaxzxjjyw_mondo_relaxed.owl night blindness, congenital stationary, type 1G|CSNB1G|congenital stationary night blindness type 1G UMLS:C4225345|DOID:0110714|OMIM:616389|Orphanet:215 owl:Class HP:0002156 biolink:NamedThing Homocystinuria An increased concentration of homocystine in the urine. tmpaxzxjjyw_mondo_relaxed.owl High urine homocystine levels SNOMEDCT_US:11282001|MSH:D006712|UMLS:C0019880 Homocystine is a disulfide derivate of homocysteine (a precursor of cysteine). Patients with homocystinuria have a clinical phenotype similar to that of patients affected by Marfan syndrome (pectus excavatum, dislocated lenses, etc). This term does not describe the disease entity, but rather the finding of an increased concentration of homocystine in urine, which can be easily detected by a sensitive test for disulphide compounds (the cyanide-nitroprusside reaction) and using chromatographic techniques. Homocystinuria can be caused by biochemical defects including cystathionine B-synthase deficiency, N5-methyltetrahydrofolate:homocystine methyltransferase deficiency, N5,10-methylentetrahydrofolate reductase deficiency, and methhylcobalamin deficiency. human_phenotype owl:Class HP:0033095 biolink:NamedThing Increased sulfur amino acid level in urine An elevated level of a sulfur-containing amino acid in the urine. tmpaxzxjjyw_mondo_relaxed.owl Increased sulfur-containing amino acid level in urine|Increased sulphur amino acid level in urine peter human_phenotype owl:Class MONDO:0022623 biolink:NamedThing CDK4 linked melanoma tmpaxzxjjyw_mondo_relaxed.owl GARD:0001175 https://rarediseases.info.nih.gov/diseases/1175/cdk4-linked-melanoma owl:Class MONDO:0000188 biolink:NamedThing GLUT1 deficiency syndrome tmpaxzxjjyw_mondo_relaxed.owl GLUT1DS|GLUT1 deficiency syndrome OMIMPS:606777 Editor note: note that in contrast to other phenotypic series, all members are caused by the same gene, SLC2A1 owl:Class CHEBI:36586 biolink:NamedThing carbonyl compound Any compound containing the carbonyl group, C=O. The term is commonly used in the restricted sense of aldehydes and ketones, although it actually includes carboxylic acids and derivatives. tmpaxzxjjyw_mondo_relaxed.owl carbonyl compounds owl:Class MONDO:0004477 biolink:NamedThing adrenal gland ganglioneuroblastoma A ganglioneuroblastoma arising from the adrenal gland. tmpaxzxjjyw_mondo_relaxed.owl adrenal gland ganglioneuroblastoma (disease)|adrenal gland ganglioneuroblastoma|adrenal ganglioneuroblastoma|ganglioneuroblastoma (disease) of adrenal gland NCIT:C7646|UMLS:C1332176|DOID:8140 owl:Class MONDO:0005035 biolink:NamedThing ganglioneuroblastoma A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular. tmpaxzxjjyw_mondo_relaxed.owl ganglioneuroblastoma (disease)|ganglioneuroblastoma (morphologic abnormality)|ganglioneuroblastoma|ganglioneuroblastoma, malignant ganglioneuroblastoma (disease) HP:0006747|MedDRA:10017708|UMLS:C0206718|ONCOTREE:GNBL|Orphanet:251877|NIFSTD:birnlex_12633|SCTID:116381000119105|ICDO:9490/3|ICD9:171.9|EFO:0000502|NCIT:C3790|DOID:4163 owl:Class MONDO:0002159 biolink:NamedThing fallopian tube leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube leiomyosarcoma|leiomyosarcoma of fallopian tube UMLS:C1517116|DOID:1965|NCIT:C40128 owl:Class MONDO:0002158 biolink:NamedThing fallopian tube cancer A primary or metastatic malignant neoplasm that affects the fallopian tube. Representative examples include carcinoma, carcinosarcoma, and leiomyosarcoma. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of uterine tube|malignant tumor of the fallopian tube|malignant tumour of fallopian tube|fallopian tube malignant neoplasm|malignant tubal tumor|malignant neoplasm of fallopian tube|cancer of fallopian tubes|malignant fallopian tube neoplasm|cancer of fallopian tube|malignant neoplasm of the fallopian tube|fallopian tube malignant tumor|malignant tumor of fallopian tube|fallopian tube cancer|tubal cancer|tumor, fallopian tube, malignant|malignant tumor of fallopian tubes|malignant fallopian tube tumor|tumor of the fallopian tube|neoplasm, fallopian tube, malignant Orphanet:180242|UMLS:C0238122|NCIT:C7480|MedDRA:10025915|DOID:1964|SCTID:126916003|NCIT:C3032|GARD:0009162|ICD10:C57.0|UMLS:C0015558|ICD9:183.2|UMLS:CN200469|SCTID:363444001|UMLS:C0153579 owl:Class MONDO:0008221 biolink:NamedThing prolidase deficiency Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly. tmpaxzxjjyw_mondo_relaxed.owl Peptidase deficiency|prolidase deficiency|hyperimidodipeptiduria|Imidodipeptidase deficiency OMIM:170100|Orphanet:742|ICD10:E72.8|NCIT:C85029|DOID:0111540|MESH:D056732|UMLS:C0268532|GARD:0007473|SCTID:410055005 owl:Class MONDO:0019313 biolink:NamedThing lymphatic malformation Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation. tmpaxzxjjyw_mondo_relaxed.owl hereditary lymphedema|lymphedema, hereditary SCTID:399889006|OMIM:615907|ICD9:757.0|OMIM:247440|OMIM:611944|OMIM:613480|OMIMPS:153100|SCTID:254199006|GARD:0007220|OMIM:153100|ICD10:Q82.0|OMIM:153200|DOID:0050580|Orphanet:79452 owl:Class GO:1900121 biolink:NamedThing negative regulation of receptor binding Any process that stops, prevents or reduces the frequency, rate or extent of a protein or other molecule binding to a receptor. tmpaxzxjjyw_mondo_relaxed.owl down regulation of receptor-associated protein activity|downregulation of receptor binding|inhibition of receptor ligand|down-regulation of receptor binding|inhibition of receptor binding|down regulation of receptor binding owl:Class MONDO:0017200 biolink:NamedThing polycystic ovaries-urethral sphincter dysfunction syndrome Polycystic ovaries-urethral sphincter dysfunction syndrome is characterised by urinary retention and incomplete emptying of the bladder associated with abnormal electromyographic activity. It has been described in 33 women, 14 of whom also had polycystic ovaries. tmpaxzxjjyw_mondo_relaxed.owl fowler's syndrome|fowler-Christmas-Chapple syndrome|polycystic ovaries urethral sphincter dysfunction|fowler Christmas Chapple syndrome|voiding dysfunction and polycystic ovaries UMLS:C2931462|MESH:C537271|Orphanet:2795|GARD:0002365 owl:Class HP:0100790 biolink:NamedThing Hernia tmpaxzxjjyw_mondo_relaxed.owl Hernias SNOMEDCT_US:52515009|MSH:D006547|SNOMEDCT_US:414403008|UMLS:C0019270 doelkens 2011-06-08T02:33:37Z human_phenotype owl:Class MONDO:0020288 biolink:NamedThing atrioventricular valve anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98720 owl:Class MONDO:0014208 biolink:NamedThing Charcot-Marie-Tooth disease type 2R Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the TRIM2 gene. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 2R|Charcot-Marie-Tooth neuropathy, type 2R|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R|Charcot-Marie-Tooth disease, axonal, type 2R|Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2|CMT2R|Charcot-Marie-Tooth disease type 2R|autosomal recessive axonal Charcot-Marie-Tooth disease type 2R|TRIM2 Charcot-Marie-Tooth disease type 2 Orphanet:397968|DOID:0110161|GARD:0012451|ICD10:G60.0|UMLS:C3809655|OMIM:615490 https://rarediseases.info.nih.gov/diseases/12451/charcot-marie-tooth-disease-type-2r owl:Class UBERON:7500062 biolink:NamedThing tibial tuberosity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032639 biolink:NamedThing hearing loss, autosomal recessive 112 tmpaxzxjjyw_mondo_relaxed.owl DFNB112|deafness, autosomal recessive 112 DOID:0111637|OMIM:618257 owl:Class UBERON:0006965 biolink:NamedThing vascular cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019631 biolink:NamedThing persistent hyperplastic primary vitreous A developmental ocular anomaly in which the primary vitreous body and its surrounding hyaloid vasculature failed to regress. It is usually unilateral and characterized by cataract; microphthalmos (small eyeballs), and retrolenticular fibrovascular tissue. (from Yanoff: Ophthalmology, 2nd ed.) tmpaxzxjjyw_mondo_relaxed.owl PHPV|ncRNA disease|PFVS|non-syndromic congenital retinal non-attachment|congenital retinal detachment|persistent fetal vasculature syndrome Orphanet:91495|SCTID:314270008|OMIM:221900|OMIMPS:221900|OMIM:611308|MESH:D054514|ICD10:Q14.0|DOID:0060282 owl:Class MONDO:0010271 biolink:NamedThing X-linked myotubular myopathy-abnormal genitalia syndrome X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. tmpaxzxjjyw_mondo_relaxed.owl Xq28 contiguous gene deletion syndrome|myotubular myopathy with abnormal genital development OMIM:300219|MESH:C564561|Orphanet:456328|UMLS:C1846169 owl:Class HGNC:6893 biolink:NamedThing MAPT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007001 biolink:NamedThing tricuspid valve prolapse Abnormal protrusion of one or more of the leaflets of tricuspid valve into the right atrium during systole. This allows the backflow of blood into right atrium leading to tricuspid valve insufficiency; systolic murmurs. Its most common cause is not primary valve abnormality but rather the dilation of the right ventricle and the tricuspid annulus. tmpaxzxjjyw_mondo_relaxed.owl tricuspid valve prolapse (disease)|tricuspid valve prolapse tricuspid valve prolapse (disease) Orphanet:95458|UMLS:C0040962|MESH:D014263|SCTID:253383003|MedDRA:10066862|HP:0001704|DOID:5644|EFO:1001218|ICD10:Q22.8 owl:Class HP:0025031 biolink:NamedThing Abnormality of the digestive system tmpaxzxjjyw_mondo_relaxed.owl 2016-08-27 13:44:32+00:00 Any anomaly of the digestive system, a collection of organs that is made up of the gastrointestinal tract and the liver, pancreas, and gallbladder. The gastrointestinal tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus, including the mouth, esophagus, stomach, small intestine, large intestine and anus. HPO:probinson human_phenotype owl:Class GO:0120025 biolink:NamedThing plasma membrane bounded cell projection A prolongation or process extending from a cell and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:721805 biolink:NamedThing Amygdaleae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:171637 biolink:NamedThing Amygdaloideae tmpaxzxjjyw_mondo_relaxed.owl Maloideae|Spiraeoideae GC_ID:1|PMID:24631854 NCBITaxon:171636|NCBITaxon:721786 ncbi_taxonomy owl:Class MONDO:0013556 biolink:NamedThing Hermansky-Pudlak syndrome 4 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene. tmpaxzxjjyw_mondo_relaxed.owl Hermansky-Pudlak syndrome caused by mutation in HPS4|HPS4 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 4|HPS4|Hermansky-Pudlak syndrome type 4 UMLS:C3484357|DOID:0060542|Orphanet:79430|Orphanet:231500|OMIM:614073 owl:Class MONDO:0016501 biolink:NamedThing Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis. tmpaxzxjjyw_mondo_relaxed.owl HPS with pulmonary fibrosis ICD10:E70.3|OMIM:203300|Orphanet:231500|OMIM:614073|UMLS:CN201506 owl:Class MONDO:0005496 biolink:NamedThing bile duct carcinoma A carcinoma that arises from epithelial cells of the bile duct tmpaxzxjjyw_mondo_relaxed.owl bile duct cancer|carcinoma of bile duct|bile duct cancer (including cholangiocarcinoma)|bile duct carcinoma EFO:0005540|DOID:4897|NCIT:C27814|UMLS:C0740277 owl:Class MONDO:0002382 biolink:NamedThing benign mesenchymoma A term describing a benign soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. tmpaxzxjjyw_mondo_relaxed.owl mesenchymoma, benign (morphologic abnormality)|mesenchymoma, benign|mesenchymal tumor, benign NCIT:C4267|DOID:2667|UMLS:C0334491|ICDO:8990/0 owl:Class MONDO:0006854 biolink:NamedThing mesenchymoma A term describing a soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. tmpaxzxjjyw_mondo_relaxed.owl mesenchymoma NCIT:C3233|EFO:1001042|DOID:2668|ICDO:8990/1|UMLS:C0025464|MESH:D008637 owl:Class MONDO:0016147 biolink:NamedThing qualitative or quantitative defects of dystrophin tmpaxzxjjyw_mondo_relaxed.owl dystrophinopathy Orphanet:207085|UMLS:CN043595 owl:Class MONDO:0017170 biolink:NamedThing idiopathic recurrent stupor Idiopathic recurrent stupor is a rare neurologic disease characterized by unpredictable, transient and spontaneous unresponsiveness lasting from hours to days, with a frequency of three to seven attacks per year, in the absence of readily discernible toxic, metabolic or structural causes. tmpaxzxjjyw_mondo_relaxed.owl SCTID:763739002|UMLS:CN202595|Orphanet:276174 owl:Class MONDO:0006478 biolink:NamedThing undifferentiated pancreatic carcinoma A carcinoma with poor prognosis that arises from the pancreas. It is characterized by the presence of a significant malignant component that does not show differentiation. The malignant cells represent a mixture of large, pleomorphic cells and giant cells, or adenocarcinoma cells and spindle cells, or spindle cells. tmpaxzxjjyw_mondo_relaxed.owl pancreatic carcinosarcoma|undifferentiated carcinoma of pancreas|spindle cell pancreatic carcinoma|undifferentiated pancreatic carcinoma|undifferentiated carcinoma of the pancreas|pleomorphic large cell pancreatic carcinoma|undifferentiated (anaplastic) pancreatic carcinoma|sarcomatoid pancreatic carcinoma|pancreas undifferentiated carcinoma|UCP ONCOTREE:UCP|UMLS:C1336861|EFO:1000606|NCIT:C5722 owl:Class MONDO:0005184 biolink:NamedThing pancreatic ductal adenocarcinoma An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor. tmpaxzxjjyw_mondo_relaxed.owl pancreatic ductal adenocarcinoma|ductal adenocarcinoma of pancreas|pancreas ductal adenocarcinoma|pancreatic duct adenocarcinoma|pancreatic ductal carcinoma|malignant neoplasm of duct of Wirsung|pancreatic tubular adenocarcinoma|pancreatic duct cancer|ductal adenocarcinoma of the pancreas DOID:3498|ICD9:157.3|MESH:D021441|NCIT:C9120|UMLS:C0887833|ICD10:C25.3|EFO:0002517|UMLS:C1335302|DOID:3587 owl:Class MONDO:0011538 biolink:NamedThing frontoocular syndrome tmpaxzxjjyw_mondo_relaxed.owl frontoocular syndrome UMLS:C1854405|MESH:C565340|OMIM:605321 owl:Class UBERON:0003231 biolink:NamedThing epithelium of hip tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018676 biolink:NamedThing eosinophilic angiocentric fibrosis tmpaxzxjjyw_mondo_relaxed.owl eosinophilic angiocentric fibrosis|EAF|Sinonasal eosinophilic angiocentric fibrosis|IgG4-related eosinophilic angiocentric fibrosis GARD:0002032|ICD10:J39.8|Orphanet:449566 https://rarediseases.info.nih.gov/diseases/2032/eaf owl:Class MONDO:0000587 biolink:NamedThing autoimmune disease of ear, nose and throat An autoimmune form of otorhinolaryngologic disease. tmpaxzxjjyw_mondo_relaxed.owl autoimmune disease of eyes, ear, nose and throat|autoimmune otorhinolaryngologic disease DOID:0060030 Editor note: ENT typically excludes eye, but the DOID class includes this owl:Class MONDO:0006799 biolink:NamedThing hypothalamic neoplasm A primary or metastatic neoplasm that affects the hypothalamus. tmpaxzxjjyw_mondo_relaxed.owl hypothalamus neoplasm|tumor of hypothalamus|hypothalamic neoplasms|tumor of the hypothalamus|hypothalamus tumor|neoplasm of the hypothalamus|hypothalamic tumor|neoplasm of hypothalamus MESH:D007029|UMLS:C0020659|DOID:3644|SCTID:254968009|EFO:1000979|NCIT:C3129 owl:Class MONDO:0004069 biolink:NamedThing inborn mitochondrial metabolism disorder Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial disease|mitochondrial metabolism disease|mitochondrial genetic disorders DOID:700|GARD:0007048|Orphanet:68380|MESH:D028361 https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders owl:Class MONDO:0009915 biolink:NamedThing 46,XX disorder of sex development-skeletal anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl female pseudohermaphroditism-skeletal anomalies syndrome|pseudohermaphroditism, female, with skeletal anomalies ICD10:Q56.2|Orphanet:2975|OMIM:264270|UMLS:C1849696|MESH:C564869 owl:Class HGNC:10990 biolink:NamedThing SLC25A4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071624 biolink:NamedThing positive regulation of granulocyte chemotaxis Any process that increases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1836 biolink:NamedThing CEBPE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017356 biolink:NamedThing inborn disorder of ornithine metabolism An acquired metabolic disease that is has its basis in the disruption of ornithine metabolic process. tmpaxzxjjyw_mondo_relaxed.owl rare inborn error of ornithine metabolic process|disorder of ornithine metabolism|inborn error of ornithine metabolic process|inborn ornithine metabolic process disorder SCTID:237928008|UMLS:C0342690|Orphanet:289869|ICD10:E72.4 owl:Class UBERON:0005133 biolink:NamedThing metanephric glomerulus vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004190 biolink:NamedThing renal glomerulus vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010580 biolink:NamedThing immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome is a severe congenital systemic autoimmune disease characterized by refractory diarrhea, endocrinopathies, cutaneous involvement, and infections. tmpaxzxjjyw_mondo_relaxed.owl IPEX|polyendocrinopathy, immune dysfunction, and diarrhea, X-linked|IMMUNODYSREGULATION, polyendocrinopathy, and enteropathy, X-linked|autoimmunity-immunodeficiency syndrome x-linked|X-linked autoimmunity-allergic dysregulation syndrome|Immunodysregulation, polyendocrinopathy and enteropathy X-linked|immunodysregulation, polyendocrinopathy, and enteropathy, X-linked|islets of Langerhans, absence of|IDDM secretory diarrhea syndrome|X linked polyendocrinopathy|IPEX syndrome|autoimmunity-immunodeficiency syndrome, X-linked|XPID|Iddm-secretory diarrhea syndrome|immune dysfunction and diarrhea syndrome|DMSD|diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea|IDDM-secretory diarrhea syndrome|XLAAD|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked, formerly|polyendocrinopathy, immune dysfunction and diarrhea x-linked|diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked|immunodeficiency, polyendocrinopathy, and enteropathy, X-linked|immune dysregulation, polyendocrinopathy, and enteropathy X-linked syndrome|enteropathy, autoimmune, with hemolytic Anemia and polyendocrinopathy|autoimmune enteropathy type 1 Orphanet:37042|GARD:0001850|OMIM:304790|MESH:C580192|SCTID:237618001|DOID:0090110|GARD:1850|ICD9:250.81|NCIT:C131009|ICD10:E31.0 owl:Class UBERON:0005092 biolink:NamedThing right horn of sinus venosus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010564 biolink:NamedThing regulation of cell cycle process Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051726 biolink:NamedThing regulation of cell cycle Any process that modulates the rate or extent of progression through the cell cycle. tmpaxzxjjyw_mondo_relaxed.owl cell cycle regulator|cell cycle regulation|mitotic cell cycle arrest|cell cycle modulation|regulation of progression through cell cycle|arrest of mitotic cell cycle progression|tumor suppressor|control of cell cycle progression|regulation of cell cycle arrest|modulation of cell cycle progression|regulation of cell cycle progression|positive regulation of cell cycle arrest|negative regulation of cell cycle arrest|cell cycle arrest owl:Class UBERON:0004490 biolink:NamedThing cardiac muscle tissue of atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004493 biolink:NamedThing cardiac muscle tissue of myocardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015751 biolink:NamedThing inferior tarsal muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003386 biolink:NamedThing smooth muscle of eye tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11936 biolink:NamedThing FASLG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014908 biolink:NamedThing microcephaly 17, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene. tmpaxzxjjyw_mondo_relaxed.owl CIT autosomal recessive primary microcephaly|MCPH17|autosomal recessive primary microcephaly caused by mutation in cit|autosomal recessive primary microcephaly caused by mutation in CIT|microcephaly 17, primary, autosomal recessive; MCPH17|cit autosomal recessive primary microcephaly|microcephaly 17, primary, autosomal recessive OMIM:617090|UMLS:C4310723|DOID:0070288 owl:Class OBO:CHR_9606-chr12q1 biolink:NamedThing 12q1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 71100000 35500000 hg38 owl:Class MONDO:0005137 biolink:NamedThing nutritional disorder Any condition related to a disturbance between proper intake and utilization of nourishment. tmpaxzxjjyw_mondo_relaxed.owl nutritional disorder|nutrition disease EFO:0001069|MESH:D009748|SCTID:2492009|NCIT:C26836|ICD9:783.9|UMLS:C3714509|DOID:374 owl:Class MONDO:0015727 biolink:NamedThing mosaic trisomy 15 Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported. tmpaxzxjjyw_mondo_relaxed.owl trisomy 15 mosaicism|Mosaic trisomy chromosome 15|Mosaic trisomy type 15|chromosome 15, trisomy mosaicism MESH:C538037|UMLS:CN035788|GARD:0005313|SCTID:764619001|ICD10:Q92.1|Orphanet:1706 owl:Class PATO:0001987 biolink:NamedThing saccular A structural quality inhering in a bearer by virtue of the bearer's having a three dimensional cavity with a narrow or no opening, and often containing an anatomical substance. tmpaxzxjjyw_mondo_relaxed.owl sacular owl:Class PATO:0002014 biolink:NamedThing structure, cavities A structural quality that inheres in a bearer by virtue of the bearer's containing hollow areas. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023180 biolink:NamedThing fragile X syndrome type 3 tmpaxzxjjyw_mondo_relaxed.owl GARD:0002368 https://rarediseases.info.nih.gov/diseases/2368/fragile-x-syndrome-type-3 owl:Class GO:0048640 biolink:NamedThing negative regulation of developmental growth Any process that stops, prevents, or reduces the frequency, rate or extent of developmental growth. tmpaxzxjjyw_mondo_relaxed.owl downregulation of developmental growth|down regulation of developmental growth|inhibition of developmental growth|down-regulation of developmental growth owl:Class GO:0045926 biolink:NamedThing negative regulation of growth Any process that stops, prevents or reduces the rate or extent of growth, the increase in size or mass of all or part of an organism. tmpaxzxjjyw_mondo_relaxed.owl inhibition of growth|down regulation of growth|down-regulation of growth|downregulation of growth owl:Class UBERON:0003372 biolink:NamedThing pectoral appendage bud ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001820 biolink:NamedThing sweat gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000715 biolink:NamedThing lymph node adenoid cystic carcinoma A adenoid cystic carcinoma that involves the lymph node. tmpaxzxjjyw_mondo_relaxed.owl lymph node adenoid cystic cancer|lymph node adenoid cystic carcinoma DOID:0060219 owl:Class MONDO:0001082 biolink:NamedThing lymph node cancer A primary or metastatic malignant tumor involving the lymph node. Lymphomas and metastatic carcinomas are representative examples. -- 2004 tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of lymph node|lymph node neoplasm|lymph node cancer|cancer of lymph node|malignant lymph node neoplasm NCIT:C35812|ICD9:239.89|NCIT:C35497|DOID:10619|SCTID:127232002 owl:Class MONDO:0011996 biolink:NamedThing chronic myelogenous leukemia, BCR-ABL1 positive A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival. tmpaxzxjjyw_mondo_relaxed.owl chronic myelogenous leukemia|leukemia, chronic myeloid, atypical|chronic myelogenous leukemia (CML)|chronic myeloid leukemia|BCR-ABL Positive chronic myelogenous leukemia|leukemia, chronic myeloid|chronic granulocytic leukemia|chronic myelogenous leukemias|CML|leukemia, chronic myelogenous|chronic myelocytic leukemia|chronic myelogenous leukemia, BCR-ABL1 Positive|myeloid leukemia, chronic|hematopoeitic - chronic myelocytic leukemia (CML)|CML - chronic myelogenous leukemia UMLS:C0023473|GARD:0006105|EFO:0000339|ICDO:9863/3|OMIM:608232|DOID:8552|NCIT:C3177|ICD9:205.1|NCIT:C3174|MedDRA:10009013|ONCOTREE:CML|ICD10:C92.1|ICDO:9875/3|KEGG:05220|Orphanet:521 owl:Class MONDO:0021366 biolink:NamedThing neoplasm of middle ear A neoplasm (disease) that involves the middle ear. tmpaxzxjjyw_mondo_relaxed.owl tumor of middle Ear|middle ear neoplasm (disease)|tumor of middle ear|tumor of the middle Ear|neoplasm of middle ear|middle ear tumor|middle Ear neoplasm|neoplasm of the middle Ear|middle ear neoplasm|middle Ear tumor SCTID:127006003|NCIT:C4412|ICD9:239.89 owl:Class MONDO:0036511 biolink:NamedThing childhood malignant kidney neoplasm A malignant neoplasm that affects the kidney and occurs in childhood. tmpaxzxjjyw_mondo_relaxed.owl kidney cancer of childhood|childhood malignant kidney neoplasm|childhood malignant kidney tumor|childhood malignant renal neoplasm|pediatric kidney cancer|childhood malignant renal tumor|childhood kidney cancer NCIT:C123907|UMLS:C4086162 owl:Class MONDO:0002367 biolink:NamedThing kidney cancer Primary or metastatic malignant neoplasm involving the kidney. tmpaxzxjjyw_mondo_relaxed.owl malignant tumour of kidney|malignant renal tumor|malignant neoplasm of kidney|kidney cancer|malignant tumor of the kidney|malignant kidney neoplasm|malignant neoplasm of kidney except pelvis|malignant kidney tumor|malignant tumor of kidney|malignant neoplasm of the kidney|cancer of kidney|malignant renal neoplasm ICD10:C64|NCIT:C7548|MESH:D007680|NCIT:C3150|SCTID:126880001|UMLS:CN881103|DOID:263|SCTID:363518003|ICD9:189.0 owl:Class UBERON:0001141 biolink:NamedThing right renal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001140 biolink:NamedThing renal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003087 biolink:NamedThing mucoepidermoid breast carcinoma A carcinoma of the breast characterized by pools of mucin and islands of malignant squamous cells. Mucoepidermoid carcinomas of the breast are extremely rare. tmpaxzxjjyw_mondo_relaxed.owl mucoepidermoid carcinoma of the breast|breast mucoepidermoid carcinoma|mucoepidermoid breast carcinoma|mucoepidermoid carcinoma of breast NCIT:C5166|UMLS:C1334813|DOID:4679 owl:Class UBERON:0014531 biolink:NamedThing white matter lamina of diencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014530 biolink:NamedThing white matter lamina of neuraxis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011164 biolink:NamedThing malignant hyperthermia, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl MHS6|malignant hyperthermia susceptibility type 6|malignant hyperthermia, susceptibility to, 6|malignant hyperpyrexia susceptibility type 6|Mhs6|malignant hyperthermia, susceptibility to, type 6 MESH:C535699|GARD:0003368|Orphanet:423|OMIM:601888 https://rarediseases.info.nih.gov/diseases/3368/malignant-hyperthermia-susceptibility-type-6 owl:Class MONDO:0018493 biolink:NamedThing malignant hyperthermia of anesthesia Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat. tmpaxzxjjyw_mondo_relaxed.owl malignant hyperthermia|malignant hyperthermia of anesthesia|malignant hyperpyrexia due to anesthesia|malignant hyperpyrexia|hyperthermia of anesthesia|anesthesia related hyperthermia|malignant hyperthermia syndrome Orphanet:423|DOID:8545|OMIM:600467|ICD10:T88.3|OMIMPS:145600|HP:0002047|OMIM:154275|OMIM:154276|NCIT:C84869|OMIM:145600|OMIM:601887|OMIM:601888|ICD9:995.86|UMLS:C0024591|MedDRA:10020844|SCTID:405501007|MESH:D008305 owl:Class MONDO:0000232 biolink:NamedThing Flinders island spotted fever A spotted fever that has material basis in Rickettsia honei, which is transmitted by cayenne ticks (Amblyomma cajennense). The infection has symptom mild spotted fever, has symptom eschar and has symptom adenopathy. tmpaxzxjjyw_mondo_relaxed.owl Thai tick typhus|FISF DOID:0050047|UMLS:C4505102 owl:Class MONDO:0001195 biolink:NamedThing spotted fever A type of tick-borne disease which presents on the skin caused by bacteria of the genus Rickettsia. tmpaxzxjjyw_mondo_relaxed.owl spotted fever|spotted fever rickettsiosis|spotted fevers|spotted fever Group Rickettsioses|spotted fever Group rickettsiosis|spotted fever rickettsiae disease|fevers, spotted|spotted fever group rickettsial disease|fever, spotted ICD10:A77.9|ICD10:A77.3|GARD:0004998|UMLS:C0038041|ICD9:083.8|ICD9:082.0|ICD10:A77|ICD10:A77.1|DOID:11104|SCTID:186771002|ICD10:A77.0|ICD10:A77.2|MEDGEN:11567|Orphanet:102022|ICD10:A77.8 https://rarediseases.info.nih.gov/diseases/4998/spotted-fever owl:Class UBERON:0003395 biolink:NamedThing mesentery of rectum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010718 biolink:NamedThing pubic cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003403 biolink:NamedThing skin of forearm tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002597 biolink:NamedThing Abnormality of the vasculature An abnormality of the vasculature. tmpaxzxjjyw_mondo_relaxed.owl Vascular abnormalities|Abnormality of blood vessels|Abnormality of the vasculature UMLS:C0241657 human_phenotype owl:Class CL:0000404 biolink:NamedThing electrically signaling cell A cell that initiates an electrical signal and passes that signal to another cell. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class GO:0060101 biolink:NamedThing negative regulation of phagocytosis, engulfment Any process that stops, prevents, or reduces the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000030 biolink:NamedThing hypothalamus cell Any native cell that is part of a hypothalamus. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-25T01:17:50Z cell owl:Class CHEBI:17245 biolink:NamedThing carbon monoxide A one-carbon compound in which the carbon is joined only to a single oxygen. It is a colourless, odourless, tasteless, toxic gas. tmpaxzxjjyw_mondo_relaxed.owl carbon monoxide|[CO]|C#O|Carbon monoxide|carbon(II) oxide|CO|CARBON MONOXIDE|carbon monooxide owl:Class UBERON:0004338 biolink:NamedThing proximal phalanx of manual digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016056 biolink:NamedThing isolated congenital microcephaly tmpaxzxjjyw_mondo_relaxed.owl true microcephaly|primary microcephaly|microcephaly, primary Orphanet:199642|DOID:0070297|GARD:0007038|ICD10:Q02|MedDRA:10027534 Editor note: check alignment with DO class owl:Class MONDO:0023660 biolink:NamedThing angioedema, hereditary, 6 tmpaxzxjjyw_mondo_relaxed.owl HAE6 OMIM:619363 owl:Class GO:0006517 biolink:NamedThing protein deglycosylation The removal of sugar residues from a glycosylated protein. tmpaxzxjjyw_mondo_relaxed.owl glycoprotein deglycosylation owl:Class UBERON:0015041 biolink:NamedThing pedal digit 5 metatarsal endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0022296 biolink:NamedThing inferior palpebral branch of infra-orbital nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0022298 biolink:NamedThing lower eyelid nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25896 biolink:NamedThing ORAI1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011181 biolink:NamedThing fibrosis of extraocular muscles, congenital, 2 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene. tmpaxzxjjyw_mondo_relaxed.owl congenital fibrosis of extraocular muscles caused by mutation in PHOX2A|PHOX2A congenital fibrosis of extraocular muscles|CFEOM2|Feom2 locus|fibrosis of extraocular muscles, congenital, 2|fibrosis of extraocular muscles, congenital, type 2|fibrosis of extraocular muscles, congenital, autosomal recessive UMLS:C1865915|MESH:C566587|OMIM:602078|Orphanet:45358 owl:Class GO:0048545 biolink:NamedThing response to steroid hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to steroid hormone stimulus owl:Class NCBITaxon:314147 biolink:NamedThing Glires tmpaxzxjjyw_mondo_relaxed.owl Rodents and rabbits PMID:12082125|PMID:15522813|GC_ID:1|PMID:11214319 ncbi_taxonomy owl:Class NCBITaxon:314146 biolink:NamedThing Euarchontoglires tmpaxzxjjyw_mondo_relaxed.owl PMID:12878460|PMID:15522813|GC_ID:1|PMID:11214319|PMID:12082125 ncbi_taxonomy owl:Class MONDO:0021086 biolink:NamedThing gingival neoplasm A benign or malignant neoplasm that affects the upper or lower gingiva. tmpaxzxjjyw_mondo_relaxed.owl tumor of gingiva|neoplasm of gum|neoplasm of the gingiva|gingival tumor|tumor of the gingiva|gingiva neoplasm|neoplasm of the gum|neoplasm of gingiva|gingiva neoplasm (disease)|tumor of gum|gum tumor|tumor of the gum|gum neoplasm|gingiva tumor|gingival neoplasm NCIT:C3057|SCTID:126792007|UMLS:C0017570 owl:Class MONDO:0032632 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 28 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28|MC1DN28 OMIM:618249 owl:Class GO:0070093 biolink:NamedThing negative regulation of glucagon secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of glucagon. tmpaxzxjjyw_mondo_relaxed.owl inhibition of glucagon secretion|down regulation of glucagon secretion|down-regulation of glucagon secretion|downregulation of glucagon secretion owl:Class NCBITaxon:5833 biolink:NamedThing Plasmodium falciparum tmpaxzxjjyw_mondo_relaxed.owl malaria parasite P. falciparum|Plasmodium (Laverania) falciparum GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:418107 biolink:NamedThing Plasmodium (Laverania) tmpaxzxjjyw_mondo_relaxed.owl Laverania GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003705 biolink:NamedThing adult brainstem mixed glioma tmpaxzxjjyw_mondo_relaxed.owl adult brainstem mixed glioma|adult brain stem mixed glioma UMLS:C1377915|NCIT:C9371|DOID:5921 owl:Class MONDO:0003153 biolink:NamedThing adult brainstem glioma A brain stem glioma that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl glioma of adult brain stem|adult brainstem neuroglial neoplasm|adult brain stem glioma|brain stem glioma|glioma of the adult brain stem|adult brainstem neuroglial tumor|brain stem glioma of adults|adult brainstem glioma UMLS:C0278873|NCIT:C9091|DOID:4813 owl:Class MONDO:0019242 biolink:NamedThing inborn disorder of branched-chain amino acid metabolism An acquired metabolic disease that is has its basis in the disruption of branched-chain amino acid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl rare inborn error of branched-chain amino acid metabolic process|disorder of branched-chain amino acid metabolism|disorder of branched chain amino acid metabolism|inborn error of branched-chain amino acid metabolic process|inborn branched-chain amino acid metabolic process disorder|branched chain amino acid metabolism disorder ICD10:E71.2|SCTID:116020001|Orphanet:79197|UMLS:C0342712|ICD10:E71.1|ICD10:E71.0 Editor note: consider parent for non-inborn form owl:Class MONDO:0006279 biolink:NamedThing lung sarcomatoid carcinoma A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor. tmpaxzxjjyw_mondo_relaxed.owl lung sarcomatoid carcinoma|sarcomatoid carcinoma of the lung NCIT:C45540|EFO:1000336|ONCOTREE:SARCL|ICD9:162.9|SCTID:707460002 owl:Class MONDO:0006406 biolink:NamedThing sarcomatoid carcinoma A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present. tmpaxzxjjyw_mondo_relaxed.owl spindle cell carcinoma|carcinoma, spindle cell, malignant|spindle cell carcinoma (morphologic abnormality)|sarcomatoid carcinoma|pseudosarcomatous carcinoma ICDO:8032/3|ICDO:8033/3|NCIT:C27004|MESH:D002277|EFO:1000520|DOID:4015|UMLS:C0205697 owl:Class MONDO:0014628 biolink:NamedThing basal ganglia calcification, idiopathic, 6 Any bilateral striopallidodentate calcinosis in which the cause of the disease is a mutation in the XPR1 gene. tmpaxzxjjyw_mondo_relaxed.owl basal ganglia calcification, idiopathic, type 6|XPR1 bilateral striopallidodentate calcinosis|bilateral striopallidodentate calcinosis caused by mutation in XPR1|IBGC6|basal ganglia calcification, idiopathic, 6 Orphanet:1980|OMIM:616413|UMLS:C4225335 owl:Class MONDO:0054654 biolink:NamedThing combined oxidative phosphorylation deficiency 32 tmpaxzxjjyw_mondo_relaxed.owl COXPD32|combined oxidative phosphorylation deficiency 32 UMLS:C4540029|OMIM:617664|DOID:0111492 owl:Class CHEBI:17895 biolink:NamedThing L-tyrosine An optically active form of tyrosine having L-configuration. tmpaxzxjjyw_mondo_relaxed.owl (S)-alpha-amino-4-hydroxybenzenepropanoic acid|Tyr|Y|(-)-alpha-amino-p-hydroxyhydrocinnamic acid|Tyrosine|L-Tyrosin|(S)-3-(p-Hydroxyphenyl)alanine|L-tyrosine|(S)-2-Amino-3-(p-hydroxyphenyl)propionic acid|TYROSINE|(2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid|4-hydroxy-L-phenylalanine|(S)-Tyrosine|(S)-(-)-Tyrosine|L-Tyrosine owl:Class CHEBI:73690 biolink:NamedThing erythrose 4-phosphate/phosphoenolpyruvate family amino acid An L-alpha-amino acid which is biosynthesised from erythrose 4-phosphate and phosphoenolpyruvate (i.e. phenylalanine, tyrosine, and tryptophan). A closed class. tmpaxzxjjyw_mondo_relaxed.owl erythrose 4-phosphate family amino acid|phosphoenolpyruvate family amino acid|phosphoenolpyruvate family amino acids|erythrose 4-phosphate family amino acids|erythrose 4-phosphate/phosphoenolpyruvate family amino acids|erythrose 4-phosphate and phosphoenolpyruvate family amino acids|erythrose 4-phosphate and phosphoenolpyruvate family amino acid owl:Class MONDO:0015447 biolink:NamedThing differentiated thyroid carcinoma Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass. tmpaxzxjjyw_mondo_relaxed.owl well differentiated thyroid carcinoma|thyroid gland well differentiated carcinoma|papillary or follicular thyroid carcinoma|differentiated thyroid carcinoma|thyroid gland differentiated carcinoma|well-differentiated thyroid cancer|differentiated thyroid cancer|well differentiated thyroid gland carcinoma|differentiated thyroid gland carcinoma|well-differentiated thyroid carcinoma|differentiated thyroid gland cancer EFO:1002017|UMLS:C0238463|ONCOTREE:WDTC|NCIT:C7153|UMLS:C1337013|OMIM:607464|ICD10:C73|OMIM:188550|Orphanet:146|DOID:0080525 owl:Class ENVO:01001293 biolink:NamedThing bush area A vegetated area which has not been cleared or is sparsely settled, usually scrub-covered or forested tmpaxzxjjyw_mondo_relaxed.owl the bush owl:Class ENVO:01001305 biolink:NamedThing vegetated area A vegetated area is a geographic feature which has ground cover dominated by plant communities. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017498 biolink:NamedThing congenital absence of both forearm and hand, unilateral Congenital absence of both forearm and hand, unilateral is a rare developmental defect during embryogenesis characterized by a unilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. Left or right side may be involved. tmpaxzxjjyw_mondo_relaxed.owl radio-ulnar terminal transverse meromelia, unilateral Orphanet:295093|ICD10:Q71.2 owl:Class MONDO:0017443 biolink:NamedThing congenital absence of both forearm and hand Congenital absence of both forearm and hand is a rare developmental defect during embryogenesis characterized by unilateral or bilateral arrest of proximal to distal development of the upper limb, leading to a transverse deficiency with absence of the forearm, wrist and hand. A short below-the-elbow amputation is most commonly observed and the residual limb is usually well cushioned, with rudimentary nubbins or dumpling possibly found on the end. tmpaxzxjjyw_mondo_relaxed.owl radio-ulnar terminal transverse meromelia ICD10:Q71.2|Orphanet:294979 owl:Class MONDO:0008996 biolink:NamedThing COACH syndrome 1 A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF). tmpaxzxjjyw_mondo_relaxed.owl JS-H|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|Joubert syndrome with hepatic defect|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|COACH syndrome|Joubert syndrome with congenital hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis|gentile syndrome MESH:C536430|GARD:0001410|DOID:0111589|OMIM:216360|Orphanet:1454|UMLS:C1857662|SCTID:721847002|ICD10:Q04.3 owl:Class MONDO:0015369 biolink:NamedThing Joubert syndrome and related disorders Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa. tmpaxzxjjyw_mondo_relaxed.owl JSRD|Joubert syndrome and related disorders UMLS:CN199461|Orphanet:140874 owl:Class UBERON:0010685 biolink:NamedThing pedal digit phalanx cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002142 biolink:NamedThing undifferentiated pleomorphic sarcoma An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma. tmpaxzxjjyw_mondo_relaxed.owl Unclassified Pleomorphic sarcoma (formerly "MFH")|malignant fibrous histiocytoma|fibroxanthosarcoma (morphologic abnormality)|MFH|undifferentiated pleomorphic sarcoma/malignant fibrous histiocytoma/high-grade spindle cell sarcoma|histiocytoma, fibrous, malignant|fibrous histiocytoma, malignant (morphologic abnormality)|malignant fibrohistiocytic tumors|adult unclassified pleomorphic sarcoma|malignant fibroxanthoma|unclassified pleomorphic sarcoma|adult undifferentiated pleomorphic sarcoma|undifferentiated pleomorphic soft tissue sarcoma|adult malignant fibrous histiocytoma|malignant fibrous histiocytoma of soft tissue and bone|malignant fibrous histiocytoma of the soft tissue and bone|undifferentiated pleomorphic sarcoma|UPS|fibrous histiocytoma, malignant|Storiform-pleomorphic fibrous histiocytoma|Storiform-pleomorphic malignant fibrous histiocytoma|malignant fibrous cytoma|Storiform-pleomorphic MFH|fibroxanthosarcoma|Unclassified Pleomorphic sarcoma (formerly "malignant fibrous histiocytoma") MESH:D051677|ICD10:C49.9|SCTID:443439001|NCIT:C114541|NCIT:C4247|ICDO:8830/3|HGNC:16982|EFO:1001972|MedDRA:10025552|ICD9:171.9|DOID:1907|Orphanet:2023|GARD:0006963|ONCOTREE:MFH MONDO:0016069 https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma owl:Class HP:0000365 biolink:NamedThing Hearing impairment A decreased magnitude of the sensory perception of sound. tmpaxzxjjyw_mondo_relaxed.owl Hearing impairment|Hearing defect|Hearing loss|Hypoacusis|Hypacusis|Deafness SNOMEDCT_US:343087000|Fyler:4868|SNOMEDCT_US:95828007|UMLS:C0339789|UMLS:C1384666|SNOMEDCT_US:15188001|MSH:D003638|MSH:D034381|UMLS:C0011053|UMLS:C0018772|SNOMEDCT_US:103276001 Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. HP:0000404|HP:0008560|HP:0008563|HP:0001728|HP:0001729|HP:0001754 human_phenotype owl:Class MONDO:0017480 biolink:NamedThing amelia of lower limb, unilateral tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q72.0|Orphanet:295057 owl:Class MONDO:0011829 biolink:NamedThing coenzyme Q10 deficiency, primary, 1 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene. tmpaxzxjjyw_mondo_relaxed.owl CoQ deficiency 1|COQ2 coenzyme Q10 deficiency|ubiquinone deficiency 1|COQ10D1|coenzyme Q10 deficiency, primary, 1|coenzyme Q10 deficiency, primary, type 1|coenzyme Q deficiency 1|coenzyme Q10 deficiency caused by mutation in COQ2|Coq10 deficiency, primary, 1 Orphanet:255249|UMLS:C3551954|UMLS:C1843920|OMIM:607426|DOID:0070238 owl:Class MONDO:0006666 biolink:NamedThing atrophy of thyroid Tissue degeneration and diminished size of the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl thyroid atrophy|thyroid gland atrophy EFO:1000827|NCIT:C26942|ICD10:E03.4|ICD9:246.8|SCTID:190309006|UMLS:C2981141|MedDRA:10043693 owl:Class MONDO:0003240 biolink:NamedThing thyroid gland disorder A disease involving the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl disease of thyroid gland|thyroid gland disorder|thyroid disease|thyroid gland disease|thyroid gland disease or disorder|thyroid gland disorders|disorder of thyroid gland|disease or disorder of thyroid gland|thyroid gland diseases ICD9:246.8|ICD10:E07.9|MESH:D013959|ICD9:246.9|EFO:1000627|ICD10:E00-E07|ICD10:E00.E07|ICD9:240-246.99|Wikipedia:Thyroid_disease|SCTID:14304000|DOID:50|UMLS:C0040128|NCIT:C26893 owl:Class MONDO:0005902 biolink:NamedThing peanut allergic reaction Allergic reaction to peanuts that is triggered by the immune system. tmpaxzxjjyw_mondo_relaxed.owl nut allergic reaction of pigmented ciliary epithelial cell|pigmented ciliary epithelial cell nut allergic reaction|peanut allergic reaction|peanut allergy|allergy to peanuts ICD9:995.3|MESH:D021183|UMLS:C0559470|EFO:0007425|DOID:4378|SCTID:91935009 owl:Class UBERON:0002360 biolink:NamedThing meninx tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:23399 biolink:NamedThing FREM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006008 biolink:NamedThing vestibular neuronitis Idiopathic inflammation of the vestibular nerve, characterized clinically by the acute or subacute onset of vertigo; nausea; and imbalance. The cochlear nerve is typically spared and hearing loss and tinnitus do not usually occur. Symptoms usually resolve over a period of days to weeks. (Adams et al., Principles of Neurology, 6th ed, p304) tmpaxzxjjyw_mondo_relaxed.owl vestibular neuritis|epidemic neurolabyrinthitis ICD10:H81.2|SCTID:186738001|ICD10:H81.20|UMLS:C0751908|EFO:0007537|ICD9:078.81|MESH:D020338|ICD10:A88.1|ICD9:386.12|DOID:12683 owl:Class MONDO:0002122 biolink:NamedThing neuritis A neuropathy arising from inflammation of one or more nerves. tmpaxzxjjyw_mondo_relaxed.owl peripheral neuritis|nerve inflammation DOID:1803|SCTID:128192007|MESH:D009443|NCIT:C116381|SCTID:84299009|UMLS:C0027813|ICD9:729.2 owl:Class MONDO:0019844 biolink:NamedThing pituitary hormone deficiency secondary to storage disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:95618|UMLS:CN206788 Editor note: see https://github.com/monarch-initiative/mondo-build/pull/120 owl:Class MONDO:0015127 biolink:NamedThing pituitary deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:101957|ICD10:E23.0 Editor note: in ORDO, Orphanet:101957 is classified as genetic, yet has acquired subtypes owl:Class MONDO:0010390 biolink:NamedThing ocular albinism with late-onset sensorineural deafness Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome. tmpaxzxjjyw_mondo_relaxed.owl albinism, ocular, with late-onset sensorineural deafness|albinism ocular late onset sensorineural deafness|deafness and ocular albinism|OASD|ocular albinism with sensorineural deafness GARD:0000592|SCTID:722054007|ICD10:E70.3|OMIM:300650|UMLS:C1845069|Orphanet:1000 owl:Class MONDO:0022236 biolink:NamedThing colpocephaly Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. tmpaxzxjjyw_mondo_relaxed.owl SCTID:253160006|MESH:C535973|GARD:0010008 MONDO:0022808 https://rarediseases.info.nih.gov/diseases/10008/colpocephaly owl:Class MONDO:0012305 biolink:NamedThing photoparoxysmal response 3 tmpaxzxjjyw_mondo_relaxed.owl PPR3|photoparoxysmal response with or without myoclonic epilepsy|photoparoxysmal response 3 MESH:C563695|Orphanet:166409|OMIM:609573|UMLS:C1835966 owl:Class HGNC:1713 biolink:NamedThing CDAN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051703 biolink:NamedThing biological process involved in intraspecies interaction between organisms Any process in which an organism has an effect on an organism of the same species. tmpaxzxjjyw_mondo_relaxed.owl intraspecies interaction with other organisms|intraspecies interaction between organisms owl:Class GO:0060377 biolink:NamedThing negative regulation of mast cell differentiation Any process that decreases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000478 biolink:NamedThing transitional myocyte of sinoatrial node A transitional myocyte that is part of the sinoatrial node. tmpaxzxjjyw_mondo_relaxed.owl transitinal myocyte of sinuatrial node FMA:83384 cell owl:Class MONDO:0004314 biolink:NamedThing malignant cutaneous granular cell skin tumor tmpaxzxjjyw_mondo_relaxed.owl malignant granular cell neoplasm of skin|malignant granular cell tumor of skin|malignant granular cell skin tumor|malignant granular cell tumor of the skin|malignant granular cell neoplasm of the skin|malignant granular cell skin neoplasm|malignant cutaneous granular cell tumor DOID:7639|UMLS:C1334575|NCIT:C5614 owl:Class MONDO:0003252 biolink:NamedThing granular cell cancer An uncommon granular cell tumor which may metastasize to other anatomic sites. Morphologic characteristics include the presence of spindling neoplastic cells, necrosis, extensive pleomorphism, prominent nucleoli, and increased mitiotic activity. tmpaxzxjjyw_mondo_relaxed.owl granular cell tumor, malignant (morphologic abnormality)|granular cell tumor, malignant|malignant granular cell neoplasm|malignant granular cell myoblastoma|malignant granular cell tumor|myoblastoma, malignant UMLS:C0334618|NCIT:C4336|ICD9:171.9|DOID:5042|SCTID:404041003|ICDO:9580/3 owl:Class MONDO:0030920 biolink:NamedThing intellectual disability, autosomal dominant 54 tmpaxzxjjyw_mondo_relaxed.owl MRD54|autosomal dominant mental retardation 54|autosomal dominant intellectual disability 54|mental retardation, autosomal dominant 54|intellectual disability, autosomal dominant 54 Orphanet:178469|EFO:0009164|DOID:0080230|OMIM:617799 owl:Class MONDO:0011468 biolink:NamedThing hereditary motor and sensory neuropathy, Okinawa type Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. tmpaxzxjjyw_mondo_relaxed.owl hereditary motor and sensory neuropathy, proximal type|hereditary motor and sensory neuropathy, proximal type, formerly|neuropathy, hereditary motor and sensory, Okinawa type|HMSNO|HMSNP ICD10:G60.0|OMIM:604484|GARD:0010131|MESH:C535717|Orphanet:90117 owl:Class MONDO:0015360 biolink:NamedThing autosomal dominant hereditary axonal motor and sensory neuropathy tmpaxzxjjyw_mondo_relaxed.owl ICD10:G60.0|Orphanet:140456|UMLS:CN228927 owl:Class MONDO:0016471 biolink:NamedThing pachyonychia congenita Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. tmpaxzxjjyw_mondo_relaxed.owl pachyonychia congenita syndrome|Jadassohn-Lewandowsky syndrome|congenital pachyonychia|pachyonychia congenita type 1|Jackson-Lawler type pachyonychia congenita|pachyonychia congenita, Jadassohn-Lewandowsky type|PC DOID:0050449|OMIM:167200|UMLS:C0265334|Orphanet:2309|GARD:0010753|ICD10:Q84.5|OMIM:167210|MESH:D053549|OMIM:260130|SCTID:39427000|OMIM:615726|OMIM:615728|NCIT:C84986|OMIMPS:167200 https://rarediseases.info.nih.gov/diseases/10753/pachyonychia-congenita owl:Class MONDO:0019942 biolink:NamedThing distal arthrogryposis A muscle tissue disease characterized by congenital joint contractures of hand and feet. tmpaxzxjjyw_mondo_relaxed.owl freeman-Sheldon syndrome|arthrogryposis multiplex congenita distal|freeman-Sheldon syndrome variant OMIMPS:108120|SCTID:24269006|Orphanet:97120|DOID:0050646|ICD10:Q68.8|Orphanet:1147|GARD:0000786 https://rarediseases.info.nih.gov/diseases/786/distal-arthrogryposis owl:Class MONDO:0018046 biolink:NamedThing thrombocytopenia-robin sequence syndrome tmpaxzxjjyw_mondo_relaxed.owl thrombocytopenia Robin sequence|congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay|Braddock Carey syndrome|Braddock-Carey syndrome MESH:C536898|UMLS:C2931364|GARD:0005193|Orphanet:3323 owl:Class MONDO:0005296 biolink:NamedThing sleep apnea syndrome A disorder characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. tmpaxzxjjyw_mondo_relaxed.owl hypopnea, sleep|hypopneas, sleep|sleep-disordered breathing|breathing, sleep-disordered|apnea syndrome, sleep|breathing-related sleep disorder|sleep apnea, mixed|Apneas, sleep|sleep apnea syndrome|sleep disordered breathing|sleep apnea, mixed central and obstructive|sleep hypopneas|sleep Apneas|SDB|apnea, sleep|sleep hypopnea|mixed central and obstructive sleep apnea|sleep Apneas, mixed|hypersomnia with periodic respiration|apnea syndromes, sleep|mixed sleep Apneas|mixed sleep apnea|sleep apnea ICD9:780.57|SCTID:73430006|SCTID:111489007|DOID:0050847|EFO:0003877|HP:0010535|NCIT:C148023|ICD10:G47.3|MESH:D012891|NCIT:C26884 owl:Class MONDO:0003406 biolink:NamedThing sleep-wake disorder Abnormal sleep-wake schedule or pattern associated with the circadian rhythm which affect the length, timing, and/or rigidity of the sleep-wake cycle relative to the day-night cycle. tmpaxzxjjyw_mondo_relaxed.owl neurogenic Tachypneas, sleep-related|disorder of sleep-wake cycle|disorder of sleep-wake schedule|disorders, sleep wake|Tachypneas, sleep-related neurogenic|sleeper syndromes, long|short sleep phenotype|sleep related neurogenic tachypnea|sleep-related neurogenic Tachypneas|syndromes, Subwakefullness|wake disorder, sleep|disorders of the sleep-wake schedule|sleeper syndrome, short|phenotype, short sleep|short sleeper syndromes|syndromes, short sleeper|sleep phenotypes, short|disorder, sleep|syndromes, long sleeper|syndrome, long sleeper|sleep wake disorder|disorders, sleep|disorder, sleep wake|Subwakefullness syndromes|phenotypes, short sleep|wake disorders, sleep|Subwakefullness syndrome|sleeper syndrome, long|disturbed nyctohemeral rhythm|long sleeper syndrome|circadian dysregulation|short sleep phenotypes|syndrome, Subwakefullness|tachypnea, sleep-related neurogenic|sleeper syndromes, short|sleep-related neurogenic tachypnea|non-organic sleep disorder|sleep disorders|long sleeper syndromes|sleep disorder|short sleeper syndrome|syndrome, short sleeper|neurogenic tachypnea, sleep-related ICD9:307.4|ICD9:307.40|EFO:0008568|ICD9:307.49|DOID:535|MESH:D012893|ICD10:G47|SCTID:39898005 owl:Class MONDO:0005846 biolink:NamedThing microsporidiosis A fungal infection caused by Microsporidia. It occurs in immunocompromised patients, causing diarrhea and wasting. tmpaxzxjjyw_mondo_relaxed.owl infection by Microsporea|infection by Microsporida|Microsporidia caused disease or disorder|infection by Microspora|Microsporidia infectious disease|Microsporidia infection|Microsporidiasis|Microsporidia disease or disorder Orphanet:2552|ICD9:117.9|MESH:D016881|DOID:4271|GARD:0003655|MedDRA:10053982|NCIT:C84891|UMLS:C0085407|ICD10:B60.8|EFO:0007366|SCTID:699676006 https://rarediseases.info.nih.gov/diseases/3655/microsporidiosis owl:Class MONDO:0014343 biolink:NamedThing Desbuquois dysplasia 2 Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene. tmpaxzxjjyw_mondo_relaxed.owl Baratela-Scott syndrome|Desbuquois dysplasia type 2|Desbuquois dysplasia caused by mutation in XYLT1|XYLT1 Desbuquois dysplasia|Desbuquois dysplasia 2|DBQD2 Orphanet:1425|OMIM:615777|UMLS:C4014294|UMLS:C3550876 owl:Class MONDO:0015426 biolink:NamedThing Desbuquois dysplasia Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies. tmpaxzxjjyw_mondo_relaxed.owl micromelic dwarfism, narrow chest, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification|DBQD|Desbuquois dysplasia|desbuquois syndrome NCIT:C124056|SCTID:254099008|ICD9:756.9|DOID:0060462|Orphanet:1425|OMIM:615777|OMIMPS:251450|UMLS:CN239270|OMIM:251450|OMIM:300881|UMLS:C0432242|ICD10:Q78.8|GARD:0001818 owl:Class MONDO:0015257 biolink:NamedThing sino-auricular heart block tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199152|Orphanet:1260|ICD10:I45.5 owl:Class ENVO:09000017 biolink:NamedThing concentration of nitrogen atom in soil The concentration of a nitrogen atom when measured in soil. tmpaxzxjjyw_mondo_relaxed.owl soil nitrogen atom concentration owl:Class ENVO:09000016 biolink:NamedThing concentration of nitrogen atom in environmental material The concentration of a nitrogen atom when measured in environmental material. tmpaxzxjjyw_mondo_relaxed.owl environmental material nitrogen atom concentration owl:Class MONDO:0003645 biolink:NamedThing cavernous hemangioma of face A cavernous hemangioma arising from the face. tmpaxzxjjyw_mondo_relaxed.owl cavernous hemangioma of face|face cavernous hemangioma|cavernous hemangioma of the Face UMLS:C1332863|EFO:1000152|NCIT:C7053|DOID:5776|HP:0007486 MONDO:0006125 owl:Class GO:0045778 biolink:NamedThing positive regulation of ossification Any process that activates or increases the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpaxzxjjyw_mondo_relaxed.owl stimulation of ossification|up-regulation of ossification|activation of ossification|upregulation of ossification|up regulation of ossification|positive regulation of bone biosynthesis|positive regulation of bone formation owl:Class MONDO:0017737 biolink:NamedThing intermediate severe Salla disease tmpaxzxjjyw_mondo_relaxed.owl Intermediate Salla disease UMLS:CN203640|GARD:0010871|Orphanet:309331|ICD10:E77.8 https://rarediseases.info.nih.gov/diseases/10871/intermediate-severe-salla-disease owl:Class HGNC:4286 biolink:NamedThing GJB4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012945 biolink:NamedThing amyotrophic lateral sclerosis type 11 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FIG4 gene. tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in FIG4|FIG4 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 11|amyotrophic lateral sclerosis type 11|ALS11 Orphanet:803|DOID:0060202|GARD:0010496|UMLS:C2675491|MESH:C567244|OMIM:612577 https://rarediseases.info.nih.gov/diseases/10496/amyotrophic-lateral-sclerosis-type-11 owl:Class MONDO:0025622 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 tmpaxzxjjyw_mondo_relaxed.owl CMTMA1 OMIM:500013 owl:Class HGNC:6050 biolink:NamedThing IMPA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020853 biolink:NamedThing encephalitis/encephalopathy, mild, with reversible myelin vacuolization tmpaxzxjjyw_mondo_relaxed.owl MMERV|Encephalitis/encephalopathy, mild, with reversible splenial lesion|encephalitis/encephalopathy, mild, with reversible myelin vacuolization OMIM:618113 owl:Class GO:2000292 biolink:NamedThing regulation of defecation Any process that modulates the frequency, rate or extent of defecation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0044062 biolink:NamedThing regulation of excretion Any process that modulates the frequency, rate, or extent of excretion, the elimination by an organism of the waste products that arise as a result of metabolic activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017309 biolink:NamedThing neonatal Marfan syndrome Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated. tmpaxzxjjyw_mondo_relaxed.owl neonatal MFS Orphanet:284979|UMLS:CN202885|SCTID:763839005|UMLS:CN536247|ICD10:Q87.4 owl:Class MONDO:0007947 biolink:NamedThing Marfan syndrome A disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person. tmpaxzxjjyw_mondo_relaxed.owl Marfan syndrome type 1|MFS1|MFS|Marfan's syndrome|Marfan syndrome|Marfan syndrome, type 1 SCTID:19346006|UMLS:C0024796|DOID:14323|Orphanet:558|MedDRA:10026829|ICD9:759.82|OMIM:610168|NCIT:C34807|OMIM:154700|GARD:0006975|UMLS:CN202883|Orphanet:284963|ICD10:Q87.40|ICD10:Q87.4|MESH:D008382 Contractural arachnodactyly https://rarediseases.info.nih.gov/diseases/6975/marfan-syndrome|https://github.com/monarch-initiative/mondo/issues/3155 owl:Class UBERON:0014699 biolink:NamedThing extraembryonic venous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014701 biolink:NamedThing extraembryonic vascular system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018613 biolink:NamedThing AH amyloidosis tmpaxzxjjyw_mondo_relaxed.owl heavy chain amyloidosis ICD10:E85.9|Orphanet:442582 owl:Class UBERON:0007997 biolink:NamedThing sesamoid bone of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005897 biolink:NamedThing manus bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017748 biolink:NamedThing inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation tmpaxzxjjyw_mondo_relaxed.owl disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation|disorder of glycosphingolipid and GPI-anchored proteins glycosylation Orphanet:309515|UMLS:CN227194|ICD10:E77.8 owl:Class MONDO:0018923 biolink:NamedThing 22q11.2 deletion syndrome 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. tmpaxzxjjyw_mondo_relaxed.owl Shprintzen syndrome|DiGeorge sequence|DiGeorge syndrome|conotruncal anomaly face syndrome|catch 22|22q11DS|Sedlackova syndrome|Cayler cardiofacial syndrome|VCFS|monosomy 22q11|Takao syndrome|microdeletion 22q11.2|velocardiofacial syndrome OMIM:192430|ICD10:D82.1|OMIM:188400|GARD:0010299|MedDRA:10012979|MedDRA:10066430|Orphanet:567 owl:Class GO:0032369 biolink:NamedThing negative regulation of lipid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of lipid transport|downregulation of lipid transport|inhibition of lipid transport|down regulation of lipid transport owl:Class MONDO:0010524 biolink:NamedThing X-linked sideroblastic anemia with ataxia A rare syndromic, inherited form of sideroblastic anemia in which the cause of the disease is a mutation in the ABCB7 gene and is characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia. tmpaxzxjjyw_mondo_relaxed.owl XLSA-A|Pagon-Bird-Detter syndrome|X-linked sideroblastic anemia with ataxia|Xlsa-A|X-linked sideroblastic anemia with spinocerebellar ataxia|anemia sideroblastic and spinocerebellar ataxia|Pagon Bird Detter syndrome|anemia, sideroblastic, and spinocerebellar ataxia|anemia, Sex-linked hypochromic Siderobla|X-linked sideroblastic anemia and ataxia|ASAT|sideroblastic anemia with spinocerebellar ataxia|X-linked sideroblastic anemia and spinocerebellar ataxia|X-linked sideroblastic Anemia and ataxia Orphanet:2802|UMLS:C4304338|DOID:0060064|DOID:0050554|UMLS:C1845028|SCTID:719816006|MESH:C536358|ICD10:D64.0|OMIM:301310|GARD:0000668 owl:Class MONDO:0016803 biolink:NamedThing unspecified inborn mitochondrial disorder tmpaxzxjjyw_mondo_relaxed.owl unspecified mitochondrial disorder Orphanet:254837|UMLS:CN227004 owl:Class MONDO:0007462 biolink:NamedThing multiple sclerosis, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl disseminated sclerosis|MS OMIMPS:126200|OMIM:126200 owl:Class HGNC:28296 biolink:NamedThing DYNC2I2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001074 biolink:NamedThing chronic tic disorder A neurological disorder presenting in childhood that is characterized by either motor or phonic tics, but not both, that occur daily or nearly daily for at least a year and are not attributed to an identifiable cause. tmpaxzxjjyw_mondo_relaxed.owl tic disorder, chronic|chronic motor or vocal tic disorder DOID:10600|ICD9:307.22|MESH:D013981|ICD10:F95.1|NCIT:C116768 owl:Class ENVO:00000309 biolink:NamedThing depression A landform sunken or depressed below the surrounding area. tmpaxzxjjyw_mondo_relaxed.owl barrier basin|pan|pans|depression|pan (geologic)|non tidal basin|tidal basin owl:Class ENVO:00000191 biolink:NamedThing solid astronomical body part A part of an astronomical body which is primarily composed of a continuous volume of solid material, shaped by one or more environmental processes. tmpaxzxjjyw_mondo_relaxed.owl physiographic feature|geological feature owl:Class MONDO:0001106 biolink:NamedThing kidney failure An acute or chronic condition that is characterized by the inability of the kidneys to adequately filter the blood. tmpaxzxjjyw_mondo_relaxed.owl renal failure syndrome|renal insufficiency|failure, renal|renal failure NCIT:C4376|ICD10:N19|MESH:D051437|UMLS:C1565489|ICD9:404.12|ICD9:586|ICD9:404.13|UMLS:C0035078|DOID:1074|SCTID:42399005 owl:Class MONDO:0010921 biolink:NamedThing nasal dermoid cyst A dermoid cyst that involves the nose. tmpaxzxjjyw_mondo_relaxed.owl nasal dermoid sinus cyst|dermoid cysts, familial frontonasal Orphanet:141103|ICD10:Q18.8|OMIM:600679|UMLS:C1833473|MESH:C563455 owl:Class CHEBI:62488 biolink:NamedThing signalling molecule A molecular messenger in which the molecule is specifically involved in transmitting information between cells. Such molecules are released from the cell sending the signal, cross over the gap between cells by diffusion, and interact with specific receptors in another cell, triggering a response in that cell by activating a series of enzyme controlled reactions which lead to changes inside the cell. tmpaxzxjjyw_mondo_relaxed.owl signal molecules|signaling molecules|signalling molecules|signaling molecule|signal molecule owl:Class CHEBI:33280 biolink:NamedThing molecular messenger tmpaxzxjjyw_mondo_relaxed.owl chemical messenger owl:Class HGNC:13486 biolink:NamedThing USP27X tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006265 biolink:NamedThing laryngeal small cell carcinoma A rare carcinoma that arises from the larynx. It is characterized by the presence of small neuroendocrine cells. It metastasizes early and has an aggressive clinical course. tmpaxzxjjyw_mondo_relaxed.owl small cell carcinoma of the larynx|small cell carcinoma of larynx|larynx small cell carcinoma|laryngeal small cell carcinoma|laryngeal throat small cell cancer UMLS:C1334378|DOID:7144|EFO:1000320|NCIT:C6025 owl:Class MONDO:0002358 biolink:NamedThing laryngeal carcinoma Carcinoma that arises from the laryngeal epithelium. More than 90% of laryngeal carcinomas are squamous cell carcinomas. The remainder are adenoid cystic carcinomas, mucoepidermoid carcinomas and carcinomas with neuroendocrine differentiation. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of larynx|larynx carcinoma|laryngeal carcinoma|laryngeal cancer|cancer of the larynx|laryngeal throat cancer|carcinoma of the larynx|cancer of larynx DOID:2600|UMLS:C0595989|GARD:0006862|NCIT:C4855|SCTID:276975007 owl:Class MONDO:0033005 biolink:NamedThing Galloway-Mowat syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|GAMOS1|Galloway-Mowat syndrome 1|Galloway syndrome|spinocerebellar ataxia, autosomal recessive 5|cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities|nephrosis-neuronal dysmigration syndrome|cerebellar ataxia with intellectual disability, optic atrophy, and skin abnormalities|nephrosis-microcephaly syndrome OMIM:251300|Orphanet:2065|UMLS:C0795949|DOID:0060364|UMLS:CN031715 owl:Class UBERON:0013126 biolink:NamedThing vein of abdomen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008354 biolink:NamedThing purpura simplex tmpaxzxjjyw_mondo_relaxed.owl purpura simplex GARD:0007508|MESH:C536249|ICD9:287.2|SCTID:277791008|UMLS:C0272309|OMIM:179000 owl:Class MONDO:0054832 biolink:NamedThing corneal dystrophy, posterior polymorphous, 4 tmpaxzxjjyw_mondo_relaxed.owl corneal dystrophy, POSTERIOR polymorphous, 4|PPCD4 OMIM:618031|UMLS:CN248531 owl:Class MONDO:0037747 biolink:NamedThing spinal injury A injury that involves the vertebral column. tmpaxzxjjyw_mondo_relaxed.owl injury of vertebral column|vertebral column injury MESH:D013124|SCTID:262521009 owl:Class CL:0000972 biolink:NamedThing class switched memory B cell A class switched memory B cell is a memory B cell that has undergone Ig class switching and therefore is IgM-negative on the cell surface. These cells are CD27-positive and have either IgG, IgE, or IgA on the cell surface. tmpaxzxjjyw_mondo_relaxed.owl class switched memory B lymphocyte|class switched memory B-cell|class switched memory B-lymphocyte Per DSD: Class switched memory B cells are also reportedly CD48-positive, CD229-positive, and CD352-positive. cell owl:Class MONDO:0005194 biolink:NamedThing Rotavirus infection Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice. tmpaxzxjjyw_mondo_relaxed.owl Rotavirus disease or disorder|Rotavirus caused disease or disorder|Rotavirus infectious disease EFO:0002622|UMLS:C0035869|MESH:D012400|SCTID:18624000|ICD9:078.89 owl:Class MONDO:0002203 biolink:NamedThing constipation disorder Irregular and infrequent or difficult evacuation of the bowels. tmpaxzxjjyw_mondo_relaxed.owl constipation|colonic inertia|Dyschezia DOID:2089|MESH:D003248|ICD9:564.00|HP:0002019|ICD9:564.0|SCTID:14760008|NCIT:C37930|ICD10:K59.0|ICD10:K59.00 owl:Class MONDO:0011357 biolink:NamedThing eccrine syringofibroadenomatosis with eyelid abnormalities tmpaxzxjjyw_mondo_relaxed.owl eccrine syringofibroadenomatosis with eyelid abnormalities OMIM:603669|UMLS:C1863618|MESH:C566347 owl:Class MONDO:0010792 biolink:NamedThing lethal infantile mitochondrial myopathy Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures. tmpaxzxjjyw_mondo_relaxed.owl LIMD|LIMM|lethal infantile mitochondrial disease|mitochondrial myopathy, lethal, infantile OMIM:551000|UMLS:C1838876|Orphanet:254857|SCTID:766251006|ICD10:G71.3|MESH:C564017 owl:Class MONDO:0020838 biolink:NamedThing anterior nasal diphtheria Infection of the anterior nasal structures by Corynebacterium diphtheriae. tmpaxzxjjyw_mondo_relaxed.owl Anterior nasal diphtheria|anterior nasal diphtheria|Anterior Nasal Diphtheria SCTID:15682004|NCIT:C34542|UMLS:C0012553|ICD9:032.2 owl:Class MONDO:0044634 biolink:NamedThing retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome UMLS:C4540367|OMIM:617763|Orphanet:494439 owl:Class MONDO:0032849 biolink:NamedThing neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES|NEDSOSB OMIM:618651 owl:Class GO:1903317 biolink:NamedThing regulation of protein maturation Any process that modulates the frequency, rate or extent of protein maturation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006858 biolink:NamedThing adrenal/interrenal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002368 biolink:NamedThing endocrine gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0042495 biolink:NamedThing arteriosclerotic retinopathy A arteriosclerosis disorder that involves the retina. tmpaxzxjjyw_mondo_relaxed.owl retina arteriosclerosis disorder|arteriosclerosis disorder of retina|retinal arteriosclerosis|retinopathy, arteriosclerotic|arteriosclerotic retinopathy|arteriosclerosis, retina GARD:0000113|UMLS:C0339478|ICD9:440.8|SCTID:95691008 owl:Class MONDO:0002277 biolink:NamedThing arteriosclerosis disorder A vascular disorder characterized by thickening and hardening of the walls of the arteries. tmpaxzxjjyw_mondo_relaxed.owl vascular sclerosis|arteriosclerotic cardiovascular disease|arteriosclerotic vascular disease|cardiovascular arteriosclerosis|arterial sclerosis|arteriosclerosis HP:0002634|CSP:0571-2299|EFO:0009086|MESH:D050197|ICD10:I70|DOID:2348|ICD10:I25.1|UMLS:C0003850|NCIT:C34398|SCTID:72092001|NCIT:C35768|UMLS:C3665365|NCIT:C34403|DOID:2349|ICD9:440|NCIT:C35771|MESH:D001161 owl:Class HGNC:9446 biolink:NamedThing PRLR tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0099111 biolink:NamedThing microtubule-based transport A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015218 biolink:NamedThing syndromic developmental defect of the eye A developmental defect of the eye that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with developmental defect of the eye|syndromic developmental defect of the eye 2022-03-01 UMLS:CN226635|Orphanet:108987 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: eye disease' MONDO_0005328 owl:Class MONDO:0005086 biolink:NamedThing renal cell carcinoma A carcinoma that arises from glandular epithelial cells of the kidney tmpaxzxjjyw_mondo_relaxed.owl renal cell carcinoma (disease)|RCC|kidney adenocarcinoma|hypernephroma|renal cell carcinoma|renal cell adenocarcinoma renal cell carcinoma (disease) OMIM:300854|Orphanet:217071|SCTID:702391001|ONCOTREE:RCC|HP:0005584|MedDRA:10067946|MESH:D002292|GARD:0013215|SCTID:254915003|DOID:4450|EFO:0000681|OMIM:144700|NCIT:C9385|ICD9:189.0 owl:Class MONDO:0005206 biolink:NamedThing renal carcinoma A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis. The majority are renal cell carcinomas. Kidney carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. tmpaxzxjjyw_mondo_relaxed.owl renal carcinoma|kidney (renal) cancer|renal cancer|kidney carcinoma|carcinoma of kidney|kidney cancer|kidney (including renal cell) cancer NCIT:C9384|SCTID:254915003|EFO:0002890|DOID:4451|UMLS:C1378703|OMIM:144700 owl:Class GO:0048638 biolink:NamedThing regulation of developmental growth Any process that modulates the frequency, rate or extent of developmental growth. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018706 biolink:NamedThing syndromic sensorineural deafness due to combined oxidative phosphorylation defect tmpaxzxjjyw_mondo_relaxed.owl syndromic sensorineural deafness due to COXPD|syndromic sensorineural hearing loss due to COXPD Orphanet:457223|ICD10:G31.8|UMLS:CN242144 owl:Class UBERON:0001207 biolink:NamedThing mucosa of large intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007039 biolink:NamedThing neurofibromatosis type 2 A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas. tmpaxzxjjyw_mondo_relaxed.owl acoustic Schwannomas, bilateral|neurofibromatosis type II|neurofibromatosis, type II|acoustic schwannomas bilateral|neurofibromatosis, type 2|acoustic neurinoma, bilateral|bilateral acoustic neurofibromatosis|neurofibromatosis central type|acoustic neurinoma bilateral|neurofibromatosis, central type|neurofibromatosis type 2|central neurofibromatosis|acoustic neurofibromatosis|neurofibromatosis 2|NF2 DOID:0111252|Orphanet:637|ICD10:Q85.0|GARD:0007193|OMIM:101000|UMLS:C0027832|NCIT:C3274|MedDRA:10029271|MedDRA:10000523|SCTID:92503002|ICD9:237.72|ICD10:Q85.02 owl:Class MONDO:0021061 biolink:NamedThing neurofibromatosis A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist. tmpaxzxjjyw_mondo_relaxed.owl acoustic neurofibromatosis|Recklinghausen's neurofibromatosis|central Neurofibromatosis|type IV neurofibromatosis of riccardi|peripheral Neurofibromatosis|neurofibromatosis type 4|von Reklinghausen disease|neurofibromatosis syndrome|neurofibromatosis|neurofibromatosis type IV|neurofibromatosis type 2 UMLS:C0027832|SCTID:92824003|UMLS:C0162678|GARD:0010420|SCTID:92503002|ICD10:Q85.00|ICD9:237.72|ICD10:Q85.01|ICD10:Q85.02|ICD9:237.7|ICD9:237.70|MESH:D017253|ICDO:9540/1|SCTID:19133005|DOID:8712|ICD9:237.71|NCIT:C6727 owl:Class MONDO:0006363 biolink:NamedThing peritoneal multicystic mesothelioma A cystic mesothelioma that arises from the peritoneum and usually affects young to middle aged females. Grossly, it presents as a large multiloculated tumor mass, usually in the pelvic peritoneum. Histologically it is characterized by the presence of multiple cysts that are lined by one or more layers of mesothelial cells that do not show atypia. Patients usually present with abdominal or pelvic mass and pain. The clinical course is indolent. The tumor may recur, but transformation to diffuse malignant mesothelioma is rare. tmpaxzxjjyw_mondo_relaxed.owl multicystic mesothelioma|multicystic mesothelioma of the peritoneum|multilocular peritoneal inclusion cyst|multilocular peritoneal cysts|multilocular peritoneal inclusion cysts|benign multicystic peritoneal mesothelioma|multicystic mesothelioma of peritoneum|BMPM|benign cystic peritoneal mesothelioma|peritoneal cystic mesothelioma|peritoneal multicystic mesothelioma GARD:0010777|ICD10:C45.1|EFO:1000468|SCTID:716650003|NCIT:C6536|Orphanet:168816|UMLS:C1334818 owl:Class MONDO:0014375 biolink:NamedThing congenital diarrhea 7 with exudative enteropathy Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema. tmpaxzxjjyw_mondo_relaxed.owl congenital chronic diarrhea with protein-losing enteropathy|congenital diarrhea caused by mutation in DGAT1|DIAR7|congenital chronic diarrhea with exudative enteropathy|diarrhea 7|DGAT1 congenital diarrhea|diarrhea type 7 ICD10:P78.3|UMLS:C4014516|Orphanet:329242|OMIM:615863|DOID:0060778 owl:Class MONDO:0000824 biolink:NamedThing congenital diarrhea tmpaxzxjjyw_mondo_relaxed.owl diarrhea, congenital UMLS:CN232319|OMIMPS:214700|DOID:0060774 owl:Class GO:0016409 biolink:NamedThing palmitoyltransferase activity Catalysis of the transfer of a palmitoyl (CH3-[CH2]14-CO-) group to an acceptor molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016747 biolink:NamedThing acyltransferase activity, transferring groups other than amino-acyl groups Catalysis of the transfer of an acyl group, other than amino-acyl, from one compound (donor) to another (acceptor). tmpaxzxjjyw_mondo_relaxed.owl transferase activity, transferring acyl groups other than amino-acyl groups|transferase activity, transferring groups other than amino-acyl groups owl:Class MONDO:0021045 biolink:NamedThing fibroepithelial neoplasm A benign, borderline, or malignant neoplasm characterized by the presence of an epithelial and a fibrous component. Representative examples are fibroadenoma and phyllodes tumor. tmpaxzxjjyw_mondo_relaxed.owl fibroepithelial tumor|fibroepithelial neoplasm EFO:0007271|MESH:D018225|NCIT:C3743|UMLS:C0206649 owl:Class MONDO:0012048 biolink:NamedThing endogenous depression Depression which is considered strictly biological. tmpaxzxjjyw_mondo_relaxed.owl clinical depression|unipolar depression|major depressive disorder|MDD MESH:D003866|NCIT:C34532|EFO:0003761|NCIT:C35094|SCTID:300706003|DOID:1595 owl:Class UBERON:0007617 biolink:NamedThing synovial cavity of joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004935 biolink:NamedThing submucosa of cardia of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:29340 biolink:NamedThing hydridonitrate(2-) A divalent inorganic anion resulting from the removal of two protons from ammonia. tmpaxzxjjyw_mondo_relaxed.owl hydridonitrate(2-)|NH(2-)|azanediide|imide owl:Class MONDO:0017281 biolink:NamedThing renal caliceal diverticuli-deafness syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202834|Orphanet:2838 owl:Class HGNC:6860 biolink:NamedThing MAP3K8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000013 biolink:NamedThing sympathetic nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003391 biolink:NamedThing vulvar alveolar soft part sarcoma An alveolar soft part sarcoma arising from the vulva. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1520069|DOID:5313|NCIT:C40320 owl:Class MONDO:0005214 biolink:NamedThing vulva sarcoma A malignant mesenchymal neoplasm that arises from the vulva. Representative examples include childhood botryoid-type embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and leiomyosarcoma. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of mammalian vulva|sarcoma of vulva|mammalian vulva sarcoma|vulvar sarcoma EFO:0002920|DOID:2096|UMLS:C0238525|SCTID:254897006|NCIT:C40317 owl:Class MONDO:0002738 biolink:NamedThing acute transudative otitis media Acute form of non-suppurative otitis media. tmpaxzxjjyw_mondo_relaxed.owl acute nonsuppurative otitis media|acute non-suppurative otitis media|acute otitis media with effusion|acute secretory otitis media|non-suppurative otitis media, acute|acute transudative otitis media DOID:3697|SCTID:359609001|UMLS:C0271432|UMLS:C2939185|ICD9:381.0|ICD9:381.00 owl:Class GO:0060632 biolink:NamedThing regulation of microtubule-based movement Any process that modulates the rate, frequency, or extent of microtubule-based movement, the movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011593 biolink:NamedThing seizures, benign familial infantile, 2 tmpaxzxjjyw_mondo_relaxed.owl convulsions, benign familial infantile, 2|seizures, benign familial infantile, type 2|seizures, benign familial infantile, 2|BFIS2 OMIM:605751|UMLS:C1853995|MESH:C565296|Orphanet:306 owl:Class MONDO:0017615 biolink:NamedThing benign familial infantile epilepsy Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. tmpaxzxjjyw_mondo_relaxed.owl BFIE|benign familial infantile convulsion|benign familial infantile convulsions|seizures, benign familial infantile|BFIS|BFIC|benign familial infantile seizures GARD:0000857|OMIMPS:601764|Orphanet:306|SCTID:230410004|OMIM:601764|DOID:0060169|OMIM:605751|OMIM:612627|OMIM:607745|ICD9:V17.2|OMIM:617080|UMLS:CN203492|ICD10:G40.3 owl:Class CL:2000069 biolink:NamedThing gallbladder fibroblast Any fibroblast that is part of a gallbladder. tmpaxzxjjyw_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=5430 TermGenie 2014-10-07T18:41:43Z cell owl:Class MONDO:0021260 biolink:NamedThing sensory ganglionopathy A disease or disorder that involves the sensory ganglion. tmpaxzxjjyw_mondo_relaxed.owl disorder of sensory ganglion|disease or disorder of sensory ganglion|sensory ganglion disease|disease of sensory ganglion|sensory ganglion disease or disorder owl:Class MONDO:0014578 biolink:NamedThing congenital myasthenic syndrome 17 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital myasthenic syndrome caused by mutation in LRP4|myasthenic syndrome, congenital, 17|myasthenic syndrome, congenital, type 17|CMS17|congenital myasthenic syndrome type 17|LRP4 congenital myasthenic syndrome DOID:0110674|Orphanet:590|OMIM:616304|UMLS:C4225377 owl:Class MONDO:0001815 biolink:NamedThing extrapyramidal and movement disease tmpaxzxjjyw_mondo_relaxed.owl ICD9:333.90|DOID:13839|ICD10:G20-G26|UMLS:C0477355|ICD10:G25.9 owl:Class UBERON:0003282 biolink:NamedThing mesentery of heart tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11049 biolink:NamedThing SLC6A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000547 biolink:NamedThing kidney inner medulla collecting duct epithelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001061 cell owl:Class GO:0031342 biolink:NamedThing negative regulation of cell killing Any process that stops, prevents, or reduces the frequency, rate or extent of cell killing. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of cell killing|down regulation of cell killing|inhibition of cell killing|downregulation of cell killing owl:Class GO:0050906 biolink:NamedThing detection of stimulus involved in sensory perception The series of events involved in sensory perception in which a sensory stimulus is received and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl sensory perception, sensory transduction of stimulus|sensory transduction|sensory perception, stimulus detection|sensory detection of stimulus owl:Class MONDO:0004885 biolink:NamedThing choroidal sclerosis A neurodegenerative disease that involves the optic choroid. tmpaxzxjjyw_mondo_relaxed.owl neurodegenerative disease of optic choroid|optic choroid neurodegenerative disease|choroidal degenerations ICD9:363.40|SCTID:406446000|ICD10:H31.1|ICD9:363.4|ICD10:H31.10|OMIM:215500|DOID:980|MESH:C535358 owl:Class UBERON:0005087 biolink:NamedThing tooth placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002765 biolink:NamedThing plantar verrucous skin carcinoma A verrucous carcinoma that involves the plantar part of pes. tmpaxzxjjyw_mondo_relaxed.owl plantar verrucous carcinoma of skin|plantar part of pes verrucous carcinoma|plantar verrucous carcinoma of the skin|plantar verrucous skin carcinoma NCIT:C6811|DOID:3751|UMLS:C1335424 owl:Class MONDO:0021379 biolink:NamedThing neoplasm of epicardium A neoplasm (disease) that involves the epicardium. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the epicardium|epicardial tumor|epicardium tumor|epicardial neoplasm|epicardium neoplasm|tumor of epicardium|tumor of the epicardium|neoplasm of epicardium|epicardium neoplasm (disease) ICD9:239.89|UMLS:C1290403|NCIT:C5347|SCTID:126733004 owl:Class MONDO:0024757 biolink:NamedThing cardiovascular neoplasm A benign or malignant neoplasm that affects the heart and/or vessels. Representative examples of benign neoplasms include atrial myxoma, hemangioma, and lymphangioma. Representative examples of malignant neoplasms include pericardial malignant mesothelioma and angiosarcoma. tmpaxzxjjyw_mondo_relaxed.owl tumor of cardiovascular system|cardiovascular neoplasm|cardiovascular system tumor|neoplasm of cardiovascular system|cardiovascular tumor|cardiovascular system neoplasm SCTID:721573003|UMLS:C0497243|NCIT:C4784 owl:Class MONDO:0005779 biolink:NamedThing hand, foot and mouth disease A clinical syndrome that is usually caused by enterovirus infection, and that is characterized by fever, anorexia, and painful sores in the mouth, distal extremities, and/or other sites, including the buttocks. tmpaxzxjjyw_mondo_relaxed.owl vesicular stomatitis and exanthem|hand, foot, and mouth disease|hand foot and mouth disease|HFMD UMLS:C0018572|EFO:0007294|DOID:10881|SCTID:266108008|ICD9:074.3|NCIT:C128439|MESH:D006232|ICD10:B08.4 owl:Class HGNC:8032 biolink:NamedThing NTRK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001960 biolink:NamedThing periarterial lymphatic sheath tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018536 biolink:NamedThing adenocarcinoma of gallbladder and extrahepatic biliary tract Adenocarcinoma of the gallbladder and extrahepatic biliary tract is a rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of gallbladder and EBT|adenocarcinoma of the gallbladder and EBT|adenocarcinoma of the gallbladder and extrahepatic biliary tract UMLS:CN237537|ICD10:C28.9|ICD10:C24.8|ICD10:C24.0|ICD10:C23|Orphanet:424991|SCTID:765741003|ICD10:C24.1 owl:Class MONDO:0014888 biolink:NamedThing MIRAGE syndrome An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy. tmpaxzxjjyw_mondo_relaxed.owl myelodysplasia, infection, restriction of Growth, adrenal Hypoplasia, genital phenotypes, and enteropathy|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|mirage syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|mirage NCIT:C147530|OMIM:617053|GARD:0013108|UMLS:C4284088|Orphanet:494433 owl:Class MONDO:0009676 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2B Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed. tmpaxzxjjyw_mondo_relaxed.owl LGMD3|limb-girdle muscular dystrophy type 3|limb-girdle muscular dystrophy type 2B|muscular dystrophy, limb-girdle, type 2B|limb-girdle muscular dystrophy due to dysferlin deficiency|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF|LGMD2B|limb-girdle muscular dystrophy, type 2B|muscular dystrophy, limb-girdle, type 3|DYSF autosomal recessive limb-girdle muscular dystrophy MESH:C535899|DOID:0110276|SCTID:718179003|ICD10:G71.0|NCIT:C142080|GARD:0008574|OMIM:253601|Orphanet:268 owl:Class MONDO:0016145 biolink:NamedThing qualitative or quantitative defects of dysferlin tmpaxzxjjyw_mondo_relaxed.owl dysferlinopathy MESH:C537995|UMLS:C2931687|Orphanet:207073|GARD:0002031|GARD:0002003 owl:Class MONDO:0020692 biolink:NamedThing spondylocostal dysostosis 1, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl vertebral anomalies|spondylocostal dysostosis 1, autosomal recessive|spondylothoracic dysostosis|spondylothoracic dysplasia|SCDO1 OMIM:277300 owl:Class MONDO:0000359 biolink:NamedThing spondylocostal dysostosis Spondylocostal dysplasia is a rare genetic disorder characterized by defects of the bones of the spine (vertebrae) and abnormalities of the ribs. Ribs can be fused or missing in chaotic patterns. These malformations are present at birth (congenital). tmpaxzxjjyw_mondo_relaxed.owl SCD|spondylocostal dysostosis|SCDO|spondylocostal dysplasia|Jarcho-Levin syndrome|costovertebral dysplasia UMLS:CN201467|Orphanet:1797|NCIT:C125598|MESH:C537565|GARD:0012174|GARD:0010726|DOID:0050568|OMIM:613686|GARD:0006798|OMIMPS:277300|OMIM:122600|Orphanet:2311|OMIM:609813|OMIM:608681|OMIM:277300 Most times, spondylocostal dysplasia is inherited in an autosomal recessive manner and is caused by a change (mutation) in one of four genes, DLL3, MESP2, LFNG, HES7. Rarely, spondylocostal dysplasia can be inherited in an autosomal dominant manner. One gene, TBX6, is known to cause autosomal dominant spondylocostal dysplasia. There is significant confusion in the medical literature regarding names for spondylocostal dysplasia. For years, this disorder and a similar disorder, spondylothoracic dysplasia, were considered the same disorder and referred to as Jarcho-Levin syndrome. Researchers now know that these disorders are separate entities with different causes and associated malformations. owl:Class MONDO:0006274 biolink:NamedThing low grade vulvar intraepithelial neoplasia An intraepithelial lesion of the vulvar squamous epithelium that represents the clinical and morphological manifestation of a productive HPV infection. Low grade refers to the associated low risk of concurrent or future cancer. (WHO, 2014) tmpaxzxjjyw_mondo_relaxed.owl VIN 1 of usual type|vulvar intraepithelial neoplasia 1 of usual type|grade I VIN|intraepithelial neoplasia of vulva grade 1|grade 1 VIN|vulva intraepithelial neoplasia grade 1|low grade VIN|vulvar mild squamous dysplasia|grade I vulvar intraepithelial neoplasia|intraepithelial neoplasia of the vulva grade 1|VIN 1|vulvar Low-grade squamous intraepithelial lesion|VIN grade 1|vulvar Low grade squamous intraepithelial lesion|vulvar intraepithelial neoplasia grade 1|vulvar flat condyloma|grade 1 vulvar intraepithelial neoplasia NCIT:C4760|UMLS:C0495106|EFO:1000330 owl:Class CL:0000145 biolink:NamedThing professional antigen presenting cell A cell capable of processing and presenting lipid and protein antigens to T cells in order to initiate an immune response. tmpaxzxjjyw_mondo_relaxed.owl APC Note change of name; nearly all somatic cells can present antigens to T cells via MHC Class I complexes leading to effector responses, but professional antigen presenting cells constitutively express MHC Class II as well as costimulatory molecules, and thus can initiate immune responses via T cells. cell owl:Class GO:0009066 biolink:NamedThing aspartate family amino acid metabolic process The chemical reactions and pathways involving amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. tmpaxzxjjyw_mondo_relaxed.owl aspartate family amino acid metabolism owl:Class MONDO:0005519 biolink:NamedThing renal pelvis carcinoma A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl kidney renal pelvis cancer|carcinoma of kidney pelvis|renal pelvis carcinoma|malignant renal pelvis neoplasm|carcinoma of the renal pelvis|kidney pelvis carcinoma|carcinoma of renal pelvis|cancer of renal pelvis|carcinoma of the kidney pelvis|malignant neoplasm of renal pelvis|renal pelvis cancer DOID:4919|SCTID:363457009|EFO:0005582|NCIT:C6142|ICD10:C65|ICD9:189.1|UMLS:C0153618|UMLS:C1335749 owl:Class MONDO:0044919 biolink:NamedThing malignant renal pelvis neoplasm A primary or metastatic malignant neoplasm that affects the renal pelvis. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of renal pelvis|malignant neoplasm of the renal pelvis|renal pelvis cancer|malignant tumor of renal pelvis|malignant tumor of the renal pelvis|malignant renal pelvis tumor|malignant renal pelvis neoplasm|cancer of renal pelvis NCIT:C7525 owl:Class CHEBI:24995 biolink:NamedThing lactam Cyclic amides of amino carboxylic acids, having a 1-azacycloalkan-2-one structure, or analogues having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. tmpaxzxjjyw_mondo_relaxed.owl lactams|Laktame|Laktam|lactam owl:Class GO:0002351 biolink:NamedThing serotonin production involved in inflammatory response The synthesis or release of serotonin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. tmpaxzxjjyw_mondo_relaxed.owl serotonin production involved in acute inflammatory response owl:Class GO:0002532 biolink:NamedThing production of molecular mediator involved in inflammatory response The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. tmpaxzxjjyw_mondo_relaxed.owl production of molecular mediator involved in acute inflammatory response|production of cellular mediator of acute inflammation owl:Class CL:0000738 biolink:NamedThing leukocyte An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. tmpaxzxjjyw_mondo_relaxed.owl leucocyte|white blood cell|immune cell BTO:0000751|FMA:62852|CALOHA:TS-0549 cell owl:Class MONDO:0002153 biolink:NamedThing telogen effluvium A scalp hair loss condition characterized by excessive shedding of hair in the resting phase of growth, usually following a fever or major body stress. tmpaxzxjjyw_mondo_relaxed.owl DOID:1943|ICD10:L65.0|NCIT:C112200|SCTID:39479004|ICD9:704.02|UMLS:C0263518 owl:Class UBERON:0016545 biolink:NamedThing pharyngeal ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010540 biolink:NamedThing tarsus pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006600 biolink:NamedThing creatine metabolic process The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle. tmpaxzxjjyw_mondo_relaxed.owl creatine metabolism owl:Class GO:0004867 biolink:NamedThing serine-type endopeptidase inhibitor activity Binds to and stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme. tmpaxzxjjyw_mondo_relaxed.owl serine proteinase inhibitor activity|serine protease inhibitor activity|serpin activity owl:Class OBO:CHR_9606-chr11p13 biolink:NamedThing 11p13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 36400000 31000000 hg38 owl:Class GO:0030810 biolink:NamedThing positive regulation of nucleotide biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of nucleotide anabolism|positive regulation of nucleotide biosynthesis|activation of nucleotide biosynthetic process|stimulation of nucleotide biosynthetic process|up-regulation of nucleotide biosynthetic process|up regulation of nucleotide biosynthetic process|positive regulation of nucleotide synthesis|upregulation of nucleotide biosynthetic process|positive regulation of nucleotide formation owl:Class MONDO:0027750 biolink:NamedThing serpinopathy with toxic serpin polymerization tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:250808 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: serpinopathy MONDO_0027749 owl:Class MONDO:0008397 biolink:NamedThing aplasia of lacrimal and salivary glands Aplasia of the lacrimal and salivary glands (ALSG) is a rare autosomal dominant disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary glands leading to varying features since infancy such as recurrent eye infections, irritable eyes, epiphora, xerostomia, dental caries, dental erosion and oral inflammation. tmpaxzxjjyw_mondo_relaxed.owl ALSG|parotid aplasia or hypoplasia|congenital absence of lacrimal puncta and salivary glands|salivary glands, absence of|salivary glands, absence of, include|aplasia of lacrimal and salivary glands Orphanet:86815|ICD10:Q38.4|OMIM:180920|DOID:0111549|SCTID:715656004|ICD10:Q10.4 owl:Class MONDO:0012870 biolink:NamedThing chromosome 2q31.2 deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl chromosome 2q31.2 deletion syndrome DOID:0060416|UMLS:C2676724|MESH:C567344|OMIM:612345 owl:Class GO:0007088 biolink:NamedThing regulation of mitotic nuclear division Any process that modulates the frequency, rate or extent of mitosis. tmpaxzxjjyw_mondo_relaxed.owl regulation of mitosis owl:Class GO:0051092 biolink:NamedThing positive regulation of NF-kappaB transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. tmpaxzxjjyw_mondo_relaxed.owl NF-kappaB activation|activation of NF-kappaB transcription factor|activation of NF-kappaB owl:Class GO:0051091 biolink:NamedThing positive regulation of DNA-binding transcription factor activity Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of sequence-specific DNA binding transcription factor activity|stimulation of transcription factor activity|positive regulation of thyroid hormone receptor activity|positive regulation of transcription factor activity|positive regulation of DNA binding transcription factor activity|upregulation of transcription factor activity|up regulation of transcription factor activity|up-regulation of transcription factor activity|activation of transcription factor activity owl:Class MONDO:0021458 biolink:NamedThing benign neoplasm of penis A benign neoplasm that involves the penis. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the penis|benign penile tumor|benign tumor of the penis|benign penile neoplasm|benign tumor of penis|penis benign neoplasm SCTID:92286008|UMLS:C0149627|NCIT:C3489|ICD9:222.1|ICD10:D29.0 owl:Class MONDO:0006895 biolink:NamedThing penile neoplasm A benign, borderline, or malignant neoplasm that affects the penis. Representative examples include penile hemangioma, penile intraepithelial neoplasia, and penile carcinoma. tmpaxzxjjyw_mondo_relaxed.owl penile neoplasms|penis neoplasm (disease)|penis neoplasm|tumor of the penis|tumor of penis|neoplasm of the penis|penile neoplasm|penis tumor|neoplasm of penis|penile tumor ONCOTREE:PENIS|SCTID:126896003|MESH:D010412|DOID:11624|NCIT:C3317|EFO:1001094|MedDRA:10061913|ICD9:239.5|UMLS:C0030849 owl:Class HGNC:37234 biolink:NamedThing TMEM231 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904000 biolink:NamedThing positive regulation of eating behavior Any process that activates or increases the frequency, rate or extent of eating behavior. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of eating behaviour|activation of eating behavior|up regulation of eating behavior|up-regulation of eating behaviour|activation of eating behaviour|up-regulation of eating behavior|upregulation of eating behaviour|upregulation of eating behavior|up regulation of eating behaviour owl:Class MONDO:0002814 biolink:NamedThing adrenal carcinoma A carcinoma involving a adrenal gland. tmpaxzxjjyw_mondo_relaxed.owl adrenal gland carcinoma|carcinoma of adrenal gland|carcinoma of the adrenal gland DOID:3950 owl:Class CL:0000335 biolink:NamedThing mesenchyme condensation cell A mesenchymal cell in embryonic development found in a contracting mass and that gives rise to osteoprogenitors. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0005223 biolink:NamedThing acute myeloid leukemia with minimal differentiation An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl acute myeloid leukemia with minimal differentiation (MO)|M0 acute granulocytic leukemia|acute myelocytic leukemia with minimal differentiation|M0 acute myelogenous leukemia|M0 acute myeloblastic leukemia|M0 myeloid leukemia|acute myeloid leukemia with minimal differentiation|M0 myeloid leukemia with minimal differentiation|minimally differentiated acute myeloblastic leukemia|acute myeloid leukemia, minimally differentiated|AMLMD|AML M0|acute myeloblastic leukemia, minimally differentiated|acute myelogenous leukemia with minimal differentiation|AML with minimal differentiation|M0 acute granulocytic leukemia with minimal differentiation|M0 acute myelocytic leukemia|M0 acute myelogenous leukemia with minimal differentiation|acute myeloblastic leukemia with minimal differentiation ICD10:C92.0|Orphanet:98832|EFO:0003026|ONCOTREE:AMLMD|NCIT:C8460|UMLS:C0522631|ICDO:9872/3 MONDO:0020318 owl:Class MONDO:0017874 biolink:NamedThing Argentine hemorrhagic fever Argentine hemorrhagic fever (AHF), caused by the Junin virus (JUNV), is an acute viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms and in some cases hemorrhagic and neurological manifestations. tmpaxzxjjyw_mondo_relaxed.owl Argentinian hemorrhagic fever|Junin hemorrhagic fever UMLS:C0019097|SCTID:58868000|Orphanet:319223|DOID:0050194|ICD10:A96.0 owl:Class MONDO:0005651 biolink:NamedThing arenavirus hemorrhagic fever A viral infectious disease that involves fever and bleeding disorder caused by Arenavirus. tmpaxzxjjyw_mondo_relaxed.owl arenaviral hemorrhagic fever UMLS:C0153112|EFO:0007151|ICD9:078.7|SCTID:73730005 MONDO:0024384 owl:Class MONDO:0013142 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 2B Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene. tmpaxzxjjyw_mondo_relaxed.owl HSAN2B|hereditary sensory and autonomic neuropathy type IIB|neuropathy, hereditary sensory and autonomic, type 2B|hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1|RETREG1 hereditary sensory and autonomic neuropathy type 2|neuropathy, hereditary sensory and autonomic, type IIB|hereditary sensory and autonomic neuropathy type 2B OMIM:613115|UMLS:C2751092|DOID:0070150|Orphanet:970 owl:Class MONDO:0019941 biolink:NamedThing hereditary sensory and autonomic neuropathy type 2 Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia. tmpaxzxjjyw_mondo_relaxed.owl hereditary sensory and autonomic neuropathy type II|Giaccai type acroosteolysis|autosomal recessive sensory radicular neuropathy|neurogenic acroosteolysis|hereditary sensory neuropathy type 2|hereditary sensory radicular neuropathy, recessive form|HSAN2 Orphanet:970|OMIM:613115|ICD10:G60.8|OMIM:614213|GARD:3976|GARD:0003976|SCTID:398148000|DOID:0070161|PMID:21089229|OMIM:243000|OMIM:201300 owl:Class MONDO:0014748 biolink:NamedThing progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl spondyloepimetaphyseal dysplasia, faden-Alkuraya type|spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis|spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis|SEMDFA|spondyloepimetaphyseal dysplasia, faden-ALKURAYA type OMIM:616723|UMLS:C4225232|Orphanet:457395 owl:Class UBERON:0004901 biolink:NamedThing right lung lobar bronchus mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001780 biolink:NamedThing premature ejaculation A disorder characterized by persistent or recurrent ejaculation before or after penetration and before the person wishes it. tmpaxzxjjyw_mondo_relaxed.owl premature ejaculation (disease)|premature ejaculation premature ejaculation (disease) ICD10:F52.4|MESH:D061686|NCIT:C94349|ICD9:302.75|HP:0012876|DOID:13709 owl:Class MONDO:0000595 biolink:NamedThing sexual and gender identity disorders A category of psychiatric disorders characterized by a disturbance in sexual desire and in the psychophysiological changes that make up the sexual response cycle. tmpaxzxjjyw_mondo_relaxed.owl sexual disorder NCIT:C92202|DOID:0060043|SCTID:231532002|EFO:0004714 owl:Class MONDO:0018762 biolink:NamedThing non-acquired combined pituitary hormone deficiency Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. tmpaxzxjjyw_mondo_relaxed.owl congenital combined pituitary hormone deficiency|congenital hypopituitarism ICD10:E23.0|Orphanet:467 owl:Class UBERON:0006863 biolink:NamedThing proximal metaphysis of femur tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006865 biolink:NamedThing metaphysis of femur tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007688 biolink:NamedThing anlage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022745 biolink:NamedThing mixed dust pneumoconiosis tmpaxzxjjyw_mondo_relaxed.owl Mixed dust pneumoconiosis|mixed dust pneumoconiosis|labrador lung UMLS:C0264436|SCTID:32139003|ICD9:504|GARD:0008374 owl:Class GO:0051970 biolink:NamedThing negative regulation of transmission of nerve impulse Any process that stops, prevents, or reduces the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of conduction of nerve impulse|inhibition of transmission of nerve impulse|down-regulation of transmission of nerve impulse|down regulation of transmission of nerve impulse|downregulation of transmission of nerve impulse owl:Class GO:0031645 biolink:NamedThing negative regulation of nervous system process Any process that stops, prevents, or reduces the frequency, rate or extent of a neurophysiological process. tmpaxzxjjyw_mondo_relaxed.owl downregulation of neurological process|down regulation of neurological process|negative regulation of neurophysiological process|negative regulation of neurological system process|inhibition of neurological process|negative regulation of neurological process|down-regulation of neurological process owl:Class MONDO:0013810 biolink:NamedThing COG6-CGD tmpaxzxjjyw_mondo_relaxed.owl CDG2L|congenital disorder of glycosylation type 2l|congenital disorder of glycosylation type IIL|CDG syndrome type IIL|CDG-IIL|congenital disorder of glycosylation, type IIL|CDG IIL|CDGIIl|COG6-CDG (CDG-IIL) ICD10:E77.8|DOID:0070264|OMIM:614576|Orphanet:464443|GARD:0010944|UMLS:C3553230 owl:Class UBERON:0003472 biolink:NamedThing cerebellar artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003496 biolink:NamedThing head blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001287 biolink:NamedThing Meningitis Inflammation of the meninges. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025289|SNOMEDCT_US:7180009|MSH:D008581 human_phenotype owl:Class HP:0011450 biolink:NamedThing Unusual CNS infection A type of infection of the central nervous system that can be regarded as a sign of a pathological susceptibility to infection. tmpaxzxjjyw_mondo_relaxed.owl Central nervous system infection UMLS:C0007684|MSH:D002494|SNOMEDCT_US:128117002 peter 2012-03-18T05:57:29Z human_phenotype owl:Class CL:0008035 biolink:NamedThing microcirculation associated smooth muscle cell tmpaxzxjjyw_mondo_relaxed.owl dos 2020-02-29 17:37:00+00:00 owl:Class GO:1903169 biolink:NamedThing regulation of calcium ion transmembrane transport Any process that modulates the frequency, rate or extent of calcium ion transmembrane transport. tmpaxzxjjyw_mondo_relaxed.owl regulation of calcium ion membrane transport|regulation of transmembrane calcium transport owl:Class GO:0051924 biolink:NamedThing regulation of calcium ion transport Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl regulation of calcium transport owl:Class UBERON:0004572 biolink:NamedThing arterial system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007798 biolink:NamedThing vascular system tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14348 biolink:NamedThing HTRA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004485 biolink:NamedThing interstitial myocarditis Inflammation of the heart characterized by infiltration of the interstitial tissues by inflammatory cells, histiocytes, and the formation of granulomas. Giant cells are often present. tmpaxzxjjyw_mondo_relaxed.owl SCTID:37925008|NCIT:C35786|UMLS:C0027060|DOID:817 owl:Class MONDO:0000947 biolink:NamedThing psychosexual disorder tmpaxzxjjyw_mondo_relaxed.owl non-organic sexual dysfunction SCTID:56627002|ICD9:302.89|ICD9:302.79|ICD9:302.9|DOID:10132 owl:Class MONDO:0020543 biolink:NamedThing theca steroid-producing cell malignant tumor of ovary, not further specified Malignant steroid cell tumor of the ovary, not otherwise specified is a rare malignant sex cord stromal tumor of ovary of unknown histological lineage, occurring in adult women, characterized, in most cases, by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea) and, occasionally, Cushing syndrome. tmpaxzxjjyw_mondo_relaxed.owl theca (steroid-producing) cell cancer, not further specified ICD10:C56|Orphanet:99917|UMLS:CN207444 Editor note: TODO owl:Class MONDO:0018172 biolink:NamedThing malignant sex cord stromal tumor of ovary Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis. tmpaxzxjjyw_mondo_relaxed.owl ovarian sex cord-stromal tumor, malignant|malignant Sex cord-stromal tumor of the ovary|malignant Sex cord-stromal tumor of ovary|malignant ovarian Sex cord-stromal tumor|malignant ovarian Sex cord-stromal neoplasm|malignant ovarian sex cord-stromal tumor|malignant ovarian SCST UMLS:CN204631|NCIT:C8053|Orphanet:35808|UMLS:C1334609|ICD10:C56 owl:Class MONDO:0014292 biolink:NamedThing leukoencephalopathy with mild cerebellar ataxia and white matter edema tmpaxzxjjyw_mondo_relaxed.owl leukoencephalopathy with ataxia|LKPAT UMLS:C3810242|ICD10:E75.2|OMIM:615651|SCTID:768663003|Orphanet:363540|NCIT:C171603 owl:Class MONDO:0025445 biolink:NamedThing Wieacker-Wolff syndrome (spectrum) tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:314580 Grouping for the X-linked form seen mostly in males and female-restricted owl:Class MONDO:0016438 biolink:NamedThing linear focal dermal elastosis Linear focal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by asymptomatic, palpable, hypertrophic or atrophic, yellowish or red, indurated, horizontal, striae-like linear plaques distributed symmetrically across the mid and lower back. No systemic involvement has been described. Skin biopsy reveals a focal increase in abnormal elastic tissue with abundant, wavy, fragmented and aggregated, basophilic elastic fibers in the reticular dermis. tmpaxzxjjyw_mondo_relaxed.owl linear focal elastosis|Elastotic striae Orphanet:228236 owl:Class MONDO:0016434 biolink:NamedThing acquired dermis elastic tissue disorder An instance of dermis elastic tissue disorder that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired dermis elastic tissue disorder Orphanet:228218|UMLS:CN226927 owl:Class GO:0046474 biolink:NamedThing glycerophospholipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. tmpaxzxjjyw_mondo_relaxed.owl glycerophospholipid formation|phosphoglyceride biosynthetic process|phosphoglyceride biosynthesis|glycerophospholipid biosynthesis|glycerophospholipid synthesis|glycerophospholipid anabolism owl:Class GO:0006650 biolink:NamedThing glycerophospholipid metabolic process The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. tmpaxzxjjyw_mondo_relaxed.owl phosphoglyceride metabolism|glycerophospholipid metabolism|alpha-glycerophosphate pathway|phosphoglyceride metabolic process owl:Class MONDO:0014963 biolink:NamedThing Shashi-Pena syndrome tmpaxzxjjyw_mondo_relaxed.owl Shashi-Pena syndrome|SHAPNS|Shashi-Pena syndrome; SHAPNS OMIM:617190|UMLS:C4310672 owl:Class MONDO:0002480 biolink:NamedThing endometrioid tumor A benign, borderline, or malignant epithelial tumor of the female reproductive system characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. tmpaxzxjjyw_mondo_relaxed.owl endometrioid tumor of the female reproductive system|endometrioid neoplasm of female reproductive system|endometrioid tumor of female reproductive system|female reproductive endometrioid tumor|endometrioid neoplasm of the female reproductive system|female reproductive endometrioid neoplasm|endometrioid neoplasm|female reproductive endometrioid cancer|endometrioid tumor (morphologic abnormality)|endometrioid tumor NCIT:C7113|EFO:0009118|UMLS:C0474809|DOID:3001 owl:Class HGNC:18831 biolink:NamedThing CTHRC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048820 biolink:NamedThing hair follicle maturation A developmental process, independent of morphogenetic (shape) change, that is required for a hair follicle to attain its fully functional state. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071695 biolink:NamedThing anatomical structure maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure to attain its fully functional state. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905940 biolink:NamedThing negative regulation of gonad development Any process that stops, prevents or reduces the frequency, rate or extent of gonad development. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of gonadogenesis|downregulation of gonad development|inhibition of gonadogenesis|inhibition of gonad development|down regulation of gonad development|downregulation of gonadogenesis|down-regulation of gonadogenesis|down-regulation of gonad development|down regulation of gonadogenesis owl:Class MONDO:0043579 biolink:NamedThing enteritis Inflammation of the small intestine. tmpaxzxjjyw_mondo_relaxed.owl inflammation of small intestine|Enteritides|enteritis of small intestine|enteritis, inflammatory disorder of small intestine|enteritis|small intestine inflammation NCIT:C26765|SCTID:64613007|MESH:D004751|UMLS:C0014335 owl:Class MONDO:0017052 biolink:NamedThing intermediate maple syrup urine disease Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation. tmpaxzxjjyw_mondo_relaxed.owl intermediate maple syrup urine disease|Intermediate MSUD|Intermediate BCKD deficiency|Intermediate branched-chain 2-ketoacid dehydrogenase deficiency|Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency Orphanet:268162|OMIM:248600|ICD10:E71.0|SCTID:405287008|OMIM:615135 owl:Class OBO:CHR_9606-chr1q44 biolink:NamedThing 1q44 (Human) tmpaxzxjjyw_mondo_relaxed.owl 248956422 243500000 hg38 owl:Class MONDO:0007879 biolink:NamedThing larynx atresia A congenital malformation of the larynx in which there is failure of recanalization of the laryngotracheal tube during gestation. tmpaxzxjjyw_mondo_relaxed.owl larynx, congenital partial atresia OF|congenital partial atresia of the larynx|congenital atresia of larynx|laryngeal atresia|congenital atresia of the larynx MESH:C563637|ICD9:748.3|GARD:0003192|OMIM:150300|UMLS:C0265756|ICD10:Q31.8|GARD:0003194|Orphanet:1202|SCTID:64981002|NCIT:C98972 owl:Class CL:1000849 biolink:NamedThing kidney distal convoluted tubule epithelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001056 cell owl:Class CL:0002305 biolink:NamedThing epithelial cell of distal tubule An epithelial cell of the distal convoluted tubule of the kidney that helps regulate systemic levels of potassium, sodium, calcium, and pH. tmpaxzxjjyw_mondo_relaxed.owl kidney distal tubule epithelial cell FMA:62125|FMA:70981|KUPO:0001055 cell owl:Class HGNC:3755 biolink:NamedThing FLNB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006505 biolink:NamedThing basal ganglia cerebrovascular disorder A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis). tmpaxzxjjyw_mondo_relaxed.owl collection of basal ganglia cerebrovascular disorder|cerebrovascular disorder of collection of basal ganglia DOID:10991|UMLS:C0751739|EFO:1000640|MESH:D020144 owl:Class MONDO:0003996 biolink:NamedThing basal ganglia disorder A disease involving the basal ganglia. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of collection of basal ganglia|collection of basal ganglia disease or disorder|disease of collection of basal ganglia|basal ganglia disease|disorder of basal ganglia|disease of basal ganglia|collection of basal ganglia disease|disorder of collection of basal ganglia CSP:2057-3403|SCTID:70835005|MESH:D001480|UMLS:C0004782|DOID:679|ICD9:333.0 owl:Class MONDO:0012080 biolink:NamedThing neuronopathy, distal hereditary motor, type 2B Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene. tmpaxzxjjyw_mondo_relaxed.owl HMN 2B|HSPB1 neuronopathy, distal hereditary motor|neuropathy, distal hereditary motor, type 2B|HMN2B|neuronopathy, distal hereditary motor caused by mutation in HSPB1|neuronopathy, distal hereditary motor, type IIB UMLS:C2608087|DOID:0111207|MESH:C567084|OMIM:608634|Orphanet:139525 owl:Class MONDO:0010769 biolink:NamedThing hairy ears, Y-linked tmpaxzxjjyw_mondo_relaxed.owl hairy ears, Y-linked|hypertrichosis pinnae auris, Y-linked OMIM:425500|UMLS:C1839070|MESH:C564029 owl:Class CHEBI:27594 biolink:NamedThing carbon atom tmpaxzxjjyw_mondo_relaxed.owl carbono|carbone|carbon|6C|Carbon|Kohlenstoff|C|carbonium owl:Class CHEBI:33306 biolink:NamedThing carbon group element atom tmpaxzxjjyw_mondo_relaxed.owl group 14 elements|carbonoides|carbon group elements|cristallogenes|group IV elements|carbon group element|cristallogene owl:Class HGNC:6716 biolink:NamedThing LTBP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NBO:0000308 biolink:NamedThing sensation behavior "Cognitive perception of a sensation by any of the five senses -- vision, touch, smell, taste, and hearing." [NBO:GVG] tmpaxzxjjyw_mondo_relaxed.owl behavior involving perception|perception behavior owl:Class NBO:0000607 biolink:NamedThing cognitive behavior "Behaviour related to cognitive processes." [NBO:JH] tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019223 biolink:NamedThing inborn disorder of fatty acid oxidation and ketone body metabolism tmpaxzxjjyw_mondo_relaxed.owl disorder of fatty acid oxidation and ketone body metabolism UMLS:CN227590|ICD10:E71.3|Orphanet:79174 owl:Class MONDO:0014735 biolink:NamedThing Charcot-Marie-Tooth disease type 2Y Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation|CMT2Y|VCP Charcot-Marie-Tooth disease type 2|autosomal dominant axonal Charcot-Marie-Tooth type 2Y|Charcot-Marie-Tooth disease, axonal, type 2Y|autosomal dominant Charcot-Marie-Tooth disease type 2Y|Charcot-Marie-Tooth disease type 2 caused by mutation in VCP|Charcot-Marie-Tooth neuropathy type 2Y|CMT2 due to VCP mutation|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y|Charcot-Marie-Tooth neuropathy, type 2Y|Charcot-Marie-Tooth disease, axonal, type 2y UMLS:C4225244|Orphanet:435387|DOID:0110168|ICD10:G60.0|OMIM:616687 owl:Class MONDO:0021017 biolink:NamedThing synaptopathy A disease caused by dysfunction of synapses. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032468 biolink:NamedThing Golgi calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within the Golgi apparatus of a cell or between the Golgi and its surroundings. tmpaxzxjjyw_mondo_relaxed.owl regulation of calcium ion concentration in Golgi|regulation of Golgi calcium ion concentration|calcium ion homeostasis in Golgi|Golgi calcium ion concentration regulation owl:Class GO:0055074 biolink:NamedThing calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl regulation of calcium ion concentration owl:Class MONDO:0010426 biolink:NamedThing X-linked endothelial corneal dystrophy X-linked endothelial corneal dystrophy (XECD) is a rare subtype of posterior corneal dystrophy characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. tmpaxzxjjyw_mondo_relaxed.owl endothelial corneal dystrophy, X-linked|corneal dystrophy, endothelial, X-linked|XECD ICD10:H18.5|OMIM:300779|UMLS:C2749049|DOID:0060446|SCTID:718579008|Orphanet:293621|MESH:C567587 owl:Class MONDO:0020214 biolink:NamedThing posterior corneal dystrophy Posterior corneal dystrophies refers to a group of rare genetically determined corneal dystrophies (CDs) characterized by lesions affecting the corneal endothelium and Descemet membrane, and variable effects on vision depending on the type of dystrophy. tmpaxzxjjyw_mondo_relaxed.owl ICD10:H18.5|Orphanet:98627|UMLS:CN227822|SCTID:35091000119101|ICD9:371.58|UMLS:C2063478 owl:Class MONDO:0019612 biolink:NamedThing functioning gonadotropic adenoma Functioning gonadotropic adenoma is a very rare pituitary tumor, macroscopically characterized by a soft, well vascularized, variable sized adenoma, with occasional areas of hemorrage or necrosis, that secretes biologically active gonadotropins. In addition to common neurological signs due to mass effect (headache and/or visual field deterioration), additional clinical manifestations include menstrual irregularities (secondary amenorrhea, oligomenorhea or severe menorrhagia), galactorrhea, infertility or ovarian hyperstimulation syndrome (in premenopausal women), testicular enlargement and, occasionally, hypogonadism (in men) and isosexual precocious puberty (in children). tmpaxzxjjyw_mondo_relaxed.owl functioning pituitary gonadotropic adenoma|gonadotroph adenoma Orphanet:91348|UMLS:C0346304|ICD10:D35.2|SCTID:254960002 owl:Class HGNC:11005 biolink:NamedThing SLC2A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0035637 biolink:NamedThing multicellular organismal signaling The transfer of information occurring at the level of a multicellular organism. tmpaxzxjjyw_mondo_relaxed.owl multicellular organismal signalling owl:Class GO:0023052 biolink:NamedThing signaling The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. tmpaxzxjjyw_mondo_relaxed.owl signaling process|biological signaling|signalling process|single organism signaling|signalling owl:Class UBERON:0001133 biolink:NamedThing cardiac muscle tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001576 biolink:NamedThing intrinsic muscle of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0097194 biolink:NamedThing execution phase of apoptosis A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. tmpaxzxjjyw_mondo_relaxed.owl execution phase of apoptotic process|apoptosis owl:Class HP:0011804 biolink:NamedThing Abnormal muscle physiology A functional abnormality of a skeletal muscle. tmpaxzxjjyw_mondo_relaxed.owl Issue with muscle function|Abnormality of muscle physiology UMLS:C4023182 peter 2012-04-25T02:00:15Z human_phenotype owl:Class HP:0003011 biolink:NamedThing Abnormality of the musculature Abnormality originating in one or more muscles, i.e., of the set of muscles of body. tmpaxzxjjyw_mondo_relaxed.owl Muscular abnormality UMLS:C4021745 HP:0040290|HP:0003197|HP:0003708 human_phenotype owl:Class GO:1904318 biolink:NamedThing regulation of smooth muscle contraction involved in micturition Any process that modulates the frequency, rate or extent of smooth muscle contraction involved in micturition. tmpaxzxjjyw_mondo_relaxed.owl regulation of smooth muscle contraction involved in urination|regulation of urinary bladder smooth muscle contraction involved in micturition owl:Class GO:0006940 biolink:NamedThing regulation of smooth muscle contraction Any process that modulates the frequency, rate or extent of smooth muscle contraction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003428 biolink:NamedThing brain hemangioma A hemangioma arising from the brain. tmpaxzxjjyw_mondo_relaxed.owl brain hemangioma|brain angioma NCIT:C7739|UMLS:C0238814|DOID:5393 owl:Class MONDO:0002328 biolink:NamedThing intracranial hemangioma A hemangioma arising from the brain and meninges. tmpaxzxjjyw_mondo_relaxed.owl angioma of the intracranial structure|intracranial structure hemangioma|angioma of intracranial structure|hemangioma of the intracranial structure|hemangioma of brain|brain hemangioma|hemangioma of intracranial structures|intracranial hemangioma|hemangioma of intracranial structure|intracranial angioma ICD10:D18.02|ICD9:228.02|SCTID:93468003|UMLS:C0154050|DOID:2517|NCIT:C3633 owl:Class CHEBI:38976 biolink:NamedThing alkylbenzene A monocyclic arene that is benzene substituted with one or more alkyl groups. tmpaxzxjjyw_mondo_relaxed.owl Alkylbenzol|alkylbenzene|alkylbenzenes owl:Class CHEBI:33847 biolink:NamedThing monocyclic arene A monocyclic aromatic hydrocarbon. tmpaxzxjjyw_mondo_relaxed.owl monocyclic arenes owl:Class GO:0060376 biolink:NamedThing positive regulation of mast cell differentiation Any process that increases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1809 biolink:NamedThing CDY1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022851 biolink:NamedThing Dennis-Fairhurst-Moore syndrome A severe form of Hallermann-Streiff syndrome, observed in one family. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl Hallermam Streiff like syndrome|Dennis Fairhurst Moore syndrome GARD:0000290|OMIM:234100|Orphanet:2109|MESH:C538210 https://rarediseases.info.nih.gov/diseases/290/dennis-fairhurst-moore-syndrome owl:Class NCBITaxon:1511900 biolink:NamedThing Primate erythroparvovirus 1 tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:40121 biolink:NamedThing Erythroparvovirus tmpaxzxjjyw_mondo_relaxed.owl Erythrovirus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006414 biolink:NamedThing skin sarcoma A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of the skin|zone of skin sarcoma|sarcoma of zone of skin|sarcoma of skin|skin sarcoma|cutaneous sarcoma UMLS:C0856900|EFO:1000531|NCIT:C5585|DOID:2687 owl:Class MONDO:0016298 biolink:NamedThing postlingual non-syndromic genetic hearing loss Postlingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by progressive, bilateral, moderate to profound hearing loss (mean sensorineural hearing impairment equal to 40 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs after the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. Language development is not initially significantly delayed. tmpaxzxjjyw_mondo_relaxed.owl postlingual non-syndromic genetic deafness|isolated postlingual genetic deafness SCTID:764097002|Orphanet:216452 owl:Class MONDO:0007249 biolink:NamedThing camptobrachydactyly Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. tmpaxzxjjyw_mondo_relaxed.owl camptobrachydactyly|short foot/brachydactyly of toes, camptodactyly, brachydactyly ICD10:Q74.8|MESH:C537967|GARD:0001062|OMIM:114150|SCTID:733045005|Orphanet:1319 https://rarediseases.info.nih.gov/diseases/1062/camptobrachydactyly owl:Class MONDO:0007266 biolink:NamedThing hypertrophic cardiomyopathy 2 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic cardiomyopathy type 2|hypertrophic cardiomyopathy caused by mutation in TNNT2|cardiomyopathy, familial hypertrophic, type 2|CMH2|cardiomyopathy familial hypertrophic 2|cardiomyopathy, familial hypertrophic, 2|hypertrophic cardiomyopathy 2|TNNT2 hypertrophic cardiomyopathy|familial hypertrophic cardiomyopathy type 2 MESH:C566171|NCIT:C142892|OMIM:115195|DOID:0110308|UMLS:C1861864 owl:Class HGNC:26521 biolink:NamedThing LOXHD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002184 biolink:NamedThing cytoplasmic translational termination The process resulting in the release of a polypeptide chain from the ribosome in the cytoplasm, usually in response to a termination codon. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006415 biolink:NamedThing translational termination The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). tmpaxzxjjyw_mondo_relaxed.owl translation termination|translational complex disassembly|protein synthesis termination owl:Class MONDO:0012821 biolink:NamedThing colorectal cancer, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl CRCS5|colorectal cancer, susceptibility to, 5|colorectal cancer, susceptibility to, on chromosome 10 OMIM:612230 owl:Class GO:0043068 biolink:NamedThing positive regulation of programmed cell death Any process that activates or increases the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. tmpaxzxjjyw_mondo_relaxed.owl stimulation of programmed cell death|activation of programmed cell death|up-regulation of programmed cell death|upregulation of programmed cell death|positive regulation of non-apoptotic programmed cell death|up regulation of programmed cell death owl:Class GO:0043067 biolink:NamedThing regulation of programmed cell death Any process that modulates the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. tmpaxzxjjyw_mondo_relaxed.owl regulation of non-apoptotic programmed cell death owl:Class GO:0098869 biolink:NamedThing cellular oxidant detoxification Any process carried out at the cellular level that reduces or removes the toxicity superoxide radicals or hydrogen peroxide. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017552 biolink:NamedThing humero-ulnar synostosis, unilateral tmpaxzxjjyw_mondo_relaxed.owl humero-ulnar fusion, unilateral ICD10:Q74.0|Orphanet:295213 owl:Class MONDO:0019782 biolink:NamedThing humero-ulnar synostosis tmpaxzxjjyw_mondo_relaxed.owl humero-ulnar fusion ICD10:Q74.0|Orphanet:94056 owl:Class MONDO:0007206 biolink:NamedThing bone pain, periodic tmpaxzxjjyw_mondo_relaxed.owl bone pain, periodic OMIM:112270 owl:Class UBERON:0004787 biolink:NamedThing urethra urothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013448 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 8 tmpaxzxjjyw_mondo_relaxed.owl Gefs+, type 8|GEFSP8|generalized epilepsy with febrile seizures plus, type 8 UMLS:C3151191|Orphanet:36387|DOID:0111299|OMIM:613828 owl:Class MONDO:0018214 biolink:NamedThing generalized epilepsy with febrile seizures plus A familial epilepsy syndrome in which family members display a seizure disorder from the generalized epilepsy with febrile seizures plus spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS). tmpaxzxjjyw_mondo_relaxed.owl genetic epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures plus|genetic epilepsy with febrile seizures-plus|epilepsy, generalized, with febrile seizures plus|generalized epilepsy with febrile seizures-plus|GEFS+ OMIM:609800|SCTID:699688008|UMLS:C3502809|OMIMPS:604233|OMIM:613060|OMIM:604233|OMIM:616172|DOID:0060170|Orphanet:36387|OMIM:612279|OMIM:613863|OMIM:613828|OMIM:611277|ICD10:G40.3|OMIM:604403|MESH:C565808|NCIT:C122811 owl:Class MONDO:0005072 biolink:NamedThing neuroblastoma Neuroblastoma (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system. tmpaxzxjjyw_mondo_relaxed.owl neuroblastoma (Schwannian Stroma-poor)|neural Crest tumor, malignant|neuroblastoma, malignant|NB|neuroblastoma MedDRA:10029260|ICDO:9500/3|OMIM:256700|OMIM:613015|SCTID:432328008|NCIT:C3270|NIFSTD:birnlex_12631|OMIM:613017|EFO:0000621|UMLS:C0027819|MESH:D009447|OMIM:616792|OMIM:613016|ONCOTREE:NBL|ICD10:C74.9|Orphanet:635|DOID:769|GARD:0007185|OMIM:613013|UMLS:CN205405|OMIM:613014 NB is a disease of the sympaticoadrenal lineage of the neural crest, with tumors forming anywhere in the sympathetic nervous system. The tumors most commonly arise in the abdomen (65%), however, they also occur in the neck, chest, and pelvis. Approximately 50% of patients present with evidence of metastasis. Frequent metastasis sites include cortical bone, bone marrow, liver, and lymph nodes. The most common genetic change is MYCN amplification, which occurs in approximately 20% of patients, and is strongly correlated with advanced stage NB. Additionally, deletions of the short arm of chromosome 1 (1p) are found in 25–35% of patients and can be correlated with MYCN amplification. Outside of MYC linked changes, allelic loss of 11q is present in 35–45% of patients and is also associated with high-risk disease features. https://rarediseases.info.nih.gov/diseases/7185/neuroblastoma owl:Class MONDO:0006316 biolink:NamedThing neuroblastic tumor A group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells. tmpaxzxjjyw_mondo_relaxed.owl neuroblastic tumor EFO:1000393|NCIT:C6963|UMLS:C1334953 owl:Class MONDO:0014305 biolink:NamedThing hereditary spastic paraplegia 63 An extremely rare and complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with delayed walking and a scissors gait) associated with short stature, and normal cognition. Periventricular deep white matter changes in the corpus callosum are noted on brain imaging. SPG63 is caused by a homozygous mutation in the AMPD2 gene (1p13.3) encoding AMP deaminase 2. tmpaxzxjjyw_mondo_relaxed.owl hereditary spastic paraplegia type 63|spastic paraplegia 63|autosomal recessive complex spastic paraplegia caused by mutation in AMPD2|AMPD2 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia type 63|spastic paraplegia 63, autosomal recessive|autosomal recessive spastic paraplegia 63|SPG63 Orphanet:401805|ICD10:G11.4|SCTID:726610000|DOID:0110814|OMIM:615686|UMLS:C3810295 owl:Class MONDO:0037742 biolink:NamedThing endometrioid stromal and related neoplasms A category of mesenchymal gynecologic neoplasms. It includes endometrial stromal nodule, endometrioid stromal sarcoma, and undifferentiated sarcoma. Endometrial stromal nodule has been described in the uterine corpus only. Histologically, it is characterized by the lack of infiltration of the surrounding tissues. Endometrioid stromal sarcoma affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma. Undifferentiated sarcoma was previously also known as high grade endometrial stromal sarcoma. In 2014, high grade endometrial stromal sarcoma was reclassified and is currently considered a distinct and rare neoplasm that affects the uterine corpus only. It appears to have a prognosis that falls between low grade endometrial stromal sarcoma and undifferentiated sarcoma. The latter affects the uterine corpus and rarely the remainder of the anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl endometrioid stromal and related neoplasms|endometrioid stromal and related tumors UMLS:C4287868|NCIT:C8384 owl:Class UBERON:0004142 biolink:NamedThing outflow tract septum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002099 biolink:NamedThing cardiac septum tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0004337 biolink:NamedThing Abnormality of amino acid metabolism Abnormality of an amino acid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl Amino acid levels abnormal UMLS:C1328440 peter 2008-03-08T07:53:00Z human_phenotype owl:Class MONDO:0010442 biolink:NamedThing 46,XX sex reversal 3 tmpaxzxjjyw_mondo_relaxed.owl 46,XX SEX reversal 3|chromosome Xq26 deletion syndrome|46,XX sex reversal 3|SRXX3|chromosome Xq26 Duplication syndrome|46,XX Sex reversal type 3|46,XX Sex reversal, Sox3-related OMIM:300833|DOID:0111762|Orphanet:393|UMLS:C3151782 owl:Class MONDO:0100249 biolink:NamedThing 46,XX testicular disorder of sex development 46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency. tmpaxzxjjyw_mondo_relaxed.owl 46,XX testicular differences of sex development|46,XX testicular disorders of Sex development|XX male syndrome|XX, male syndrome|XX sex reversal|46, XX gonadal sex reversal|De la Chapelle syndrome|46,XX testicular DSD|46,XX testicular disorder of sex development|XX Male, Sry-positive DOID:0111760|OMIM:278850|OMIM:300833|Orphanet:393|UMLS:CN205000|UMLS:C2936419|MESH:D058531|NCIT:C127170|UMLS:C2748895|GARD:0000399|ICD10:Q99.1 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013333 biolink:NamedThing odontoid hypoplasia An often asymptomatic developmental abnormality of the cervical spine. It is characterized by the hypoplasia of the odontoid which appears as a stubby peg of an odontoid process. Symptoms may develop after minor trauma and include localized neck pain, atlantoaxial instability, and transient or permanent neurologic manifestations. tmpaxzxjjyw_mondo_relaxed.owl odontoid hypoplasia OMIM:613628|NCIT:C86969 owl:Class HGNC:16841 biolink:NamedThing LITAF tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009712 biolink:NamedThing catechol-containing compound metabolic process The chemical reactions and pathways involving a compound containing a pyrocatechol (1,2-benzenediol) nucleus or substituent. tmpaxzxjjyw_mondo_relaxed.owl catechol metabolic process|catechol metabolism owl:Class MONDO:0012765 biolink:NamedThing lymphatic malformation 2 tmpaxzxjjyw_mondo_relaxed.owl LMPH1B|lymphedema, hereditary, 1B DOID:0070211|MESH:C567452|Orphanet:79452|UMLS:C2677787|OMIM:611944 owl:Class MONDO:0016423 biolink:NamedThing autoimmune polyendocrinopathy type 4 tmpaxzxjjyw_mondo_relaxed.owl APS4|autoimmune polyendocrine syndrome type 4|APS type 4|autoimmune polyglandular syndrome type 4 Orphanet:227990|UMLS:C3266026|ICD10:E31.0|ICD9:258.1|UMLS:CN201378|SCTID:449730005 owl:Class MONDO:0006646 biolink:NamedThing angioleiomyoma A benign, slow-growing neoplasm that arises from the dermis or subcutaneous tissue. It is characterized by the presence of well-differentiated smooth muscle cells which are arranged around numerous vessels. tmpaxzxjjyw_mondo_relaxed.owl vascular leiomyoma|angiomyoma|angioleiomyoma|angiomyoma (morphologic abnormality) MESH:D018229|NCIT:C3747|DOID:4265|UMLS:C0206653|EFO:1000084|ICDO:8894/0|EFO:1000806 owl:Class MONDO:0000583 biolink:NamedThing immunoglobulin beta deficiency tmpaxzxjjyw_mondo_relaxed.owl IgB deficiency UMLS:C3502055|DOID:0060026|MESH:C567200 owl:Class MONDO:0002211 biolink:NamedThing B cell deficiency A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient. tmpaxzxjjyw_mondo_relaxed.owl B cell (antibody) deficiencies|immunoglobulin heavy chain deletion|deficiency of humoral immunity|B-cell deficiency|immunoglobulin heavy chain deficiency NCIT:C4799|DOID:2115|ICD9:279.03 See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/18 owl:Class MONDO:0005153 biolink:NamedThing cervical adenocarcinoma An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma - cervix|adenocarcinoma of cervix uteri|adenocarcinoma cervix uteri|adenocarcinoma of cervix|cervical adenocarcinoma|uterine cervix adenocarcinoma|adenocarcinoma of uterine cervix|cervix adenocarcinoma|adenocarcinoma of the cervix|adenocarcinoma of the uterine cervix|cervix uteri adenocarcinoma|adenocarcinoma of the cervix uteri ONCOTREE:CEAD|NCIT:C4029|OMIM:603956|SCTID:254887002|DOID:3702|EFO:0001416 owl:Class GO:0042579 biolink:NamedThing microbody Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043231 biolink:NamedThing intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl intracellular membrane-enclosed organelle owl:Class MONDO:0001544 biolink:NamedThing tibial nerve palsy tmpaxzxjjyw_mondo_relaxed.owl SCTID:365258000|ICD9:355.8|DOID:12529|UMLS:C0154751 Editor note: todo owl:Class MONDO:0004797 biolink:NamedThing mononeuritis of lower limb A mononeuritis simplex that involves the hindlimb. tmpaxzxjjyw_mondo_relaxed.owl mononeuritis simplex of hindlimb|hindlimb mononeuritis simplex ICD9:355.8|DOID:9473|ICD9:355 owl:Class MONDO:0007937 biolink:NamedThing renal hypomagnesemia 2 Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed. tmpaxzxjjyw_mondo_relaxed.owl hypomagnesemia 2, renal|magnesium wasting, renal|primary hypomagnesemia caused by mutation in FXYD2|familial primary hypomagnesemia caused by mutation in FXYD2|isolated autosomal dominant hypomagnesemia|autosomal dominant primary hypomagnesemia with hypocalciuria|FXYD2 primary hypomagnesemia|magnesium loss, isolated renal|HOMG2|isolated renal magnesium wasting|FXYD2 familial primary hypomagnesemia|renal hypomagnesemia type 2 DOID:0060885|OMIM:154020|UMLS:C4511005|GARD:0003350|ICD10:E83.4|SCTID:725393000|UMLS:C1835171|Orphanet:34528|MESH:C537152 https://rarediseases.info.nih.gov/diseases/3350/renal-hypomagnesemia-2 owl:Class MONDO:0017625 biolink:NamedThing familial primary hypomagnesemia with hypocalcuria tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227163|Orphanet:306519|SCTID:711151004 owl:Class UBERON:0001686 biolink:NamedThing auditory ossicle bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035130 biolink:NamedThing auditory ossicle endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016051 biolink:NamedThing carbohydrate biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. tmpaxzxjjyw_mondo_relaxed.owl carbohydrate anabolism|carbohydrate formation|carbohydrate biosynthesis|anabolic carbohydrate metabolic process|anabolic carbohydrate metabolism|carbohydrate synthesis owl:Class MONDO:0001892 biolink:NamedThing spinal cord lymphoma A non-Hodgkin or Hodgkin lymphoma that arises in the spinal cord as a primary lesion. tmpaxzxjjyw_mondo_relaxed.owl primary spinal cord lymphoma|spinal cord cancer|lymphoma of spinal cord|lymphoma of the spinal cord|spinal cord lymphoma DOID:14150|NCIT:C5157|UMLS:C1336044 owl:Class MONDO:0003544 biolink:NamedThing spinal cord cancer A primary or metastatic malignant neoplasm affecting the spinal cord. Representative examples include lymphoma, melanoma, and sarcoma. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the spinal cord|spinal cancer|spinal neoplasm|malignant spinal cord neoplasm|spinal cord neoplasm|spine cancer|tumor of the spinal cord|malignant tumor of spinal cord|spinal cord cancer|malignant neoplasm of spinal cord|cancer of spinal cord|malignant tumor of the spinal cord|intraspinal tumor|malignant spinal cord tumor DOID:5612|UMLS:C0153646|NCIT:C3572|UMLS:C0037930|ICD9:192.2|ICD10:C72.0|SCTID:363475005|NCIT:C3381 owl:Class UBERON:0004947 biolink:NamedThing submucosa of right main bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003509 biolink:NamedThing arterial blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009699 biolink:NamedThing action myoclonus-renal failure syndrome Action myoclonus-renal failure syndrome (AMRF) is a rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. tmpaxzxjjyw_mondo_relaxed.owl EPM4|AMRF|epilepsy, progressive myoclonic, 4, with or without renal failure|progressive myoclonic epilepsy type 4|action myoclonus-renal failure syndrome|myoclonus-nephropathy syndrome OMIM:254900|SCTID:764453009|Orphanet:163696 owl:Class MONDO:0100397 biolink:NamedThing acute myeloid leukemia, t(9;22)(q34.1;q11.2) Any acute myeloid leukemia that has the chromosomal anomaly t(9;22)(q34.1;q11.2). (A translocation between chromosomes 9 and 22 that is associated with the Philadelphia chromosome.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(9;22)(q34;q11.2)|AML, t(9;22)(q34.1;q11.2)|AML, t(9;22)(q34;q11) NCIT:C13271 owl:Class GO:0070013 biolink:NamedThing intracellular organelle lumen An organelle lumen that is part of an intracellular organelle. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043233 biolink:NamedThing organelle lumen The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002018 biolink:NamedThing CD71-negative, GlyA-positive orthochromatic erythroblast An erythroblast that is GlyA-positive and CD71-negative. tmpaxzxjjyw_mondo_relaxed.owl Markers associated with human cells. tmeehan 2010-04-26T11:04:21Z cell owl:Class UBERON:0013156 biolink:NamedThing 1st arch mandibular endoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr15q26-qter biolink:NamedThing 15q26-qter (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0000299 biolink:NamedThing thelaziasis A disease caused by infection with Thelazia. tmpaxzxjjyw_mondo_relaxed.owl infection caused by Thelazia|Thelazia disease or disorder|verminous ophthalmia|conjunctival spirurosis|infection by Thelazia|thelaziosis|Thelazia infectious disease|Thelazia caused disease or disorder|thelaziasis DOID:0050261|SCTID:46477004|ICD9:128.8|UMLS:C0344058 owl:Class MONDO:0005943 biolink:NamedThing Rhabditida infectious disease Infections with nematodes of the order rhabditida. tmpaxzxjjyw_mondo_relaxed.owl Rhabditida infections|infections, Rhabditida|Rhabditida infection|infection, Rhabditida EFO:0007468|GARD:0008203|UMLS:C0162631|MESH:D017196 owl:Class GO:0007281 biolink:NamedThing germ cell development The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism. tmpaxzxjjyw_mondo_relaxed.owl primordial germ cell development|germ-cell development owl:Class GO:0003006 biolink:NamedThing developmental process involved in reproduction A developmental process in which a progressive change in the state of some part of an organism, germline or somatic, specifically contributes to its ability to form offspring. tmpaxzxjjyw_mondo_relaxed.owl puberty|reproductive developmental process owl:Class MONDO:0014015 biolink:NamedThing hereditary spastic paraplegia 56 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the CYP2U1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spastic paraplegia 56|hereditary spastic paraplegia type 56|hereditary spastic paraplegia caused by mutation in CYP2U1|CYP2U1 hereditary spastic paraplegia|spastic paraplegia 56, autosomal recessive|SPG56|autosomal recessive spastic paraplegia type 56 Orphanet:320411|UMLS:C3539507|ICD10:G11.4|DOID:0110808|OMIM:615030 owl:Class MONDO:0002307 biolink:NamedThing blepharoconjunctivitis Inflammation of both the eyelids and the conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl SCTID:68659002|ICD10:H10.50|DOID:2456|ICD9:372.2|ICD9:372.20|NCIT:C34430|UMLS:C0005743|ICD10:H10.5 owl:Class MONDO:0054865 biolink:NamedThing encephalopathy due to mitochondrial and peroxisomal fission defect tmpaxzxjjyw_mondo_relaxed.owl encephalopathy due to mitochondrial and peroxisomal fission defect|encephalopathy due to defective mitochondrial and peroxisomal fission Orphanet:527276|OMIMPS:614388 owl:Class MONDO:0100276 biolink:NamedThing disorder of defective peroxisomal and mitochondrial fission A disease that has its basis in the disruption of peroxisome and mitochondrial fission. tmpaxzxjjyw_mondo_relaxed.owl peroxisome and mitochronrial fission disease|disorder of defective peroxisomal and mitochondrial fission http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0017893 biolink:NamedThing inherited acute myeloid leukemia An instance of acute myeloid leukemia that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl familial AML|Pure familial AML|hereditary acute myeloid leukemia|inherited AML|Pure familial acute myeloid leukemia ICD10:C92.0|UMLS:CN203946|SCTID:764940002|OMIM:601626|Orphanet:319465 owl:Class MONDO:0005933 biolink:NamedThing pulmonary blastoma A malignant neoplasm of the lung composed of tubular structures and immature mesenchymal elements, which may differentiate towards skeletal and smooth muscle, cartilage or a combination of muscle and cartilage. This is a nodular tumor found in the periphery of the lung. It can occur at any age. The prognosis is related to the stage of the disease at the time of resection. Pulmonary blastoma is divided into two subtypes: epithelial predominant and biphasic. tmpaxzxjjyw_mondo_relaxed.owl pulmonary blastoma|blastoma of the lung|blastoma of lung|Pneumoblastoma|lung blastoma ICD10:C34.1|ICD9:162.9|ICD10:C34.8|ICD10:C34.2|NCIT:C3732|ICDO:8972/3|DOID:4765|SCTID:189815007|EFO:0007458|MESH:D018202|ICD10:C34.9|ICD10:C34.3|Orphanet:64741|UMLS:C0206629 owl:Class UBERON:0008962 biolink:NamedThing forelimb bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010741 biolink:NamedThing bone of pectoral complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014252 biolink:NamedThing familial hypobetalipoproteinemia 1 Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene. tmpaxzxjjyw_mondo_relaxed.owl acanthocytosis with hypobetalipoproteinemia|hypobetalipoproteinemia, familial|familial hypobetalipoproteinemia type 1|APOB hypobetalipoproteinemia|hypobetalipoproteinemia caused by mutation in APOB|hypobetalipoproteinemia, familial, 1|hypobetalipoproteinemia, familial, type 1|hypobetalipoproteinemia, Normotriglyceridemic|FHBL1|FHBL|familial hypobetalipoproteinemia 1 GARD:0002876|OMIM:615558|UMLS:CN182502|DOID:0111062|MESH:C566267|SCTID:60193003 owl:Class MONDO:0001460 biolink:NamedThing dyshormonogenic goiter tmpaxzxjjyw_mondo_relaxed.owl ICD9:246.1|UMLS:C0152077|DOID:12175|ICD10:E07.1|SCTID:190304001 owl:Class GO:1900119 biolink:NamedThing positive regulation of execution phase of apoptosis Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis. tmpaxzxjjyw_mondo_relaxed.owl upregulation of execution phase of apoptosis|up-regulation of execution phase of apoptosis|activation of execution phase of apoptosis|up regulation of execution phase of apoptosis owl:Class MONDO:0012412 biolink:NamedThing complement component 7 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene. tmpaxzxjjyw_mondo_relaxed.owl complement component 7 deficiency|C7 classic complement early component deficiency|C7D|C7 deficiency|classic complement early component deficiency caused by mutation in C7 UMLS:C1864694|MESH:C566443|ICD10:D84.1|DOID:0060300|OMIM:610102|Orphanet:169150 owl:Class MONDO:0015700 biolink:NamedThing immunodeficiency due to a late component of complement deficiency A genetic deficiency of any membrane attack complex (MAC, also known as terminal component complex (TCC)) component of the complement system (C5, C6, C7, C8, C9). Deficiencies of the terminal complement pathway results in a predisposition to infections, such as invasive meningococcal disease or disseminated gonococcal infection. tmpaxzxjjyw_mondo_relaxed.owl terminal complement pathway deficiency|immunodeficiency due to a C5 to C9 component complement deficiency|deficiency of complement of terminal pathway|immunodeficiency due to C5 to C9 component complement deficiency OMIM:609536|OMIM:613790|OMIM:612446|OMIM:613789|ICD10:D84.1|OMIM:610102|Orphanet:169150|OMIM:613825 owl:Class MONDO:0008763 biolink:NamedThing Alstrom syndrome A multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction. tmpaxzxjjyw_mondo_relaxed.owl Alstrom syndrome|ALMS|Alstrom's syndrome|Alström syndrome|ALSS SCTID:63702009|MESH:D056769|DOID:0050473|ICD10:Q87.8|GARD:0005787|MedDRA:10068783|UMLS:C0268425|NCIT:C84549|Orphanet:64|ICD9:759.89|OMIM:203800 https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0005308 biolink:NamedThing ciliopathy A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function. tmpaxzxjjyw_mondo_relaxed.owl ciliopathies|ciliopathy GTR:AN0966173|DOID:0060340|Orphanet:363250|EFO:0003900|UMLS:CN580792|OMIM:244400|MESH:D002925 owl:Class MONDO:0003913 biolink:NamedThing choroid mixed cell melanoma A mixed cell uveal melanoma that involves the optic choroid. tmpaxzxjjyw_mondo_relaxed.owl choroid mixed cell melanoma|mixed cell uveal melanoma of optic choroid|optic choroid mixed cell uveal melanoma UMLS:C1333025|NCIT:C35782|DOID:6525 owl:Class MONDO:0036870 biolink:NamedThing lymphatic vessel neoplasm A benign or malignant neoplasm arising from the lymphatic vessels. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the lymph vessel|tumor of lymph vessel|neoplasm of lymphatic vessel|tumor of the lymph vessel|tumor of lymphatic vessel|tumor of the lymphatic vessel|neoplasm of lymph vessel|lymphatic vessel tumor|lymphatic vessel neoplasm|lymph vessel tumor|lymph vessel neoplasm|neoplasm of the lymphatic vessel UMLS:C0206619|NCIT:C3723 owl:Class GO:0034248 biolink:NamedThing regulation of cellular amide metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amides. tmpaxzxjjyw_mondo_relaxed.owl regulation of amide metabolism owl:Class GO:1903028 biolink:NamedThing positive regulation of opsonization Any process that activates or increases the frequency, rate or extent of opsonization. tmpaxzxjjyw_mondo_relaxed.owl up regulation of opsonization|activation of opsonization|upregulation of opsonization|up-regulation of opsonization owl:Class GO:1903027 biolink:NamedThing regulation of opsonization Any process that modulates the frequency, rate or extent of opsonization. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018109 biolink:NamedThing fulminant viral hepatitis Fulminant viral hepatitis is a rapid and severe impairment of liver functions (acute liver failure) with hepatic encephalopathy developing less than 8 weeks after the onset of jaundice, secondary to viral hepatitis mainly due to HBV, but also to HAV. tmpaxzxjjyw_mondo_relaxed.owl ICD10:K72|Orphanet:35063 owl:Class HGNC:2531 biolink:NamedThing CTSF tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003304 biolink:NamedThing mesoderm blood island tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007503 biolink:NamedThing epithelial vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044204 biolink:NamedThing Shwachman-Diamond syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl Shwachman-Bodian syndrome|SDS1|Shwachman-Diamond syndrome 1|Shwachman-Diamond syndrome|lipomatosis of pancreas, congenital|pancreatic insufficiency and bone marrow dysfunction Orphanet:811|OMIM:260400 owl:Class MONDO:0010493 biolink:NamedThing Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene. tmpaxzxjjyw_mondo_relaxed.owl Diamond-Blackfan anemia 14 with mandibulofacial dysostosis|DBA14|TSR2 Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in TSR2 UMLS:C4225422|OMIM:300946 owl:Class GO:0006820 biolink:NamedThing anion transport The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017788 biolink:NamedThing contractures - webbed neck - micrognathia - hypoplastic nipples syndrome tmpaxzxjjyw_mondo_relaxed.owl Dinno syndrome Orphanet:314002|UMLS:CN203738 owl:Class ENVO:00001999 biolink:NamedThing marine water body A significant accumulation of water which is part of a marine biome. tmpaxzxjjyw_mondo_relaxed.owl body of marine water|marine waterbody owl:Class ENVO:01000617 biolink:NamedThing lentic water body A lentic water body is a water body in which the accumulated water, in its totality, has very little to no directed flow. tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00002507 biolink:NamedThing taurine cattle Taurine cattle (Bos taurus taurus), also called European cattle, are a subspecies of domesticated cattle originating in the Near East. Both taurine cattle and indicine cattle (zebus) are descended from the aurochs. Taurine cattle were originally considered a distinct species, but are now typically grouped with zebus and aurochs into one species, Bos taurus. Most modern breeds of cattle are taurine cattle. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905331 biolink:NamedThing negative regulation of morphogenesis of an epithelium Any process that stops, prevents or reduces the frequency, rate or extent of morphogenesis of an epithelium. tmpaxzxjjyw_mondo_relaxed.owl downregulation of epithelium morphogenesis|down-regulation of morphogenesis of an epithelium|down regulation of morphogenesis of an epithelium|negative regulation of epithelium morphogenesis|down-regulation of epithelium morphogenesis|down regulation of epithelium morphogenesis|inhibition of epithelium morphogenesis|downregulation of morphogenesis of an epithelium|inhibition of morphogenesis of an epithelium owl:Class MONDO:0010421 biolink:NamedThing Bruton-type agammaglobulinemia X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, and is characterized in affected males by recurrent bacterial infections during infancy. tmpaxzxjjyw_mondo_relaxed.owl XLA|agammaglobulinemia, X-linked, type 1|Bruton's agammaglobulinemia|X-linked agammaglobulinemia|agammaglobulinemia, BTK|Bruton-type agammaglobulinemia|agammaglobulinemia, X-linked|agammaglobulinemia, Bruton tyrosine kinase|Bruton agammaglobulinemia tyrosine kinase deficiency|hypogammaglobulinemia, X-linked|BTK deficiency|Bruton's X-linked agammaglobulinemia|Bruton's type agammaglobulinemia|Bruton's Sex-linked agammaglobulinemia|BTK-deficiency|Bruton's agammaglobulinaemia|Bruton type agammaglobulinemia|immunodeficiency 1 GARD:0001033|DOID:14179|UMLS:C0221026|MESH:C537409|OMIM:300310|SCTID:65880007|Orphanet:47|MedDRA:10060360|ICD10:D80.0|OMIM:300755|Orphanet:229717|NCIT:C3822 owl:Class MONDO:0016462 biolink:NamedThing isolated agammaglobulinemia Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy. tmpaxzxjjyw_mondo_relaxed.owl isolated hypogammaglobulinemia|nonsyndromic agammaglobulinemia OMIM:612692|OMIM:613502|OMIM:615214|OMIM:601495|OMIM:300755|OMIM:616941|OMIM:613501|Orphanet:229717|SCTID:764858009|OMIM:300310|OMIM:613506|OMIM:613500 owl:Class GO:0050765 biolink:NamedThing negative regulation of phagocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of phagocytosis. tmpaxzxjjyw_mondo_relaxed.owl downregulation of phagocytosis|inhibition of phagocytosis|down-regulation of phagocytosis|down regulation of phagocytosis owl:Class MONDO:0004720 biolink:NamedThing variola minor infection A orthopoxvirus that causes a milder clinical syndrome than smallpox. tmpaxzxjjyw_mondo_relaxed.owl alastrim|whitepox|Variola minor|milkpox|cottonpox DOID:9153|MESH:D012899|UMLS:C0001906|NCIT:C34365|SCTID:72294005|ICD9:050.1 owl:Class MONDO:0004651 biolink:NamedThing smallpox A condition that is caused by infection with Variola, and that is characterized by small, raised bumps. tmpaxzxjjyw_mondo_relaxed.owl variola virus infection|Variola virus caused disease or disorder|ordinary smallpox|variola virus VAR infection|Variola virus disease or disorder|Variola|smallpox virus infection|Variola virus infectious disease UMLS:C0037354|SCTID:47452006|DOID:8736|ICD9:050.9|ICD10:B03|ICD9:050|NCIT:C35027|GARD:0007444|SCTID:67924001|MESH:D012899 https://rarediseases.info.nih.gov/diseases/7444/smallpox owl:Class MONDO:0007607 biolink:NamedThing Birt-Hogg-Dube syndrome Birt-Hogg-Dube (BHD) syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. It is a rare clinicopathologic condition named after the three Canadian physicians who reported the syndrome in 1977. tmpaxzxjjyw_mondo_relaxed.owl Birt-Hogg-Dubé syndrome|Hornstein-Knickenberg syndrome|BHD|Birt Hogg Dube syndrome|fibrofolliculomas with trichodiscomas and acrochordons|BHD syndrome|Birt-Hogg-Dube syndrome MedDRA:10067736|NCIT:C28244|ICD9:704.8|EFO:1001273|DOID:0050676|MESH:D058249|Orphanet:122|UMLS:C0346010|SCTID:110985001|GARD:0002322|OMIM:135150 owl:Class UBERON:0005176 biolink:NamedThing tooth enamel organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0100584 biolink:NamedThing Endocarditis An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:56819008|UMLS:C0014118|MSH:D004696 doelkens 2010-12-27T02:57:48Z human_phenotype owl:Class HP:0004306 biolink:NamedThing Abnormal endocardium morphology An abnormality of the endocardium. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the endocardium|Abnormality of the endomycoardium UMLS:C4021662 peter 2008-02-20T01:23:00Z HP:0005260 human_phenotype owl:Class MONDO:0008488 biolink:NamedThing holoprosencephaly-radial heart renal anomalies syndrome Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. tmpaxzxjjyw_mondo_relaxed.owl holoprosencephaly radial heart renal anomalies|Steinfeld syndrome|STEINFELD syndrome ICD10:Q87.8|UMLS:C1866649|SCTID:716233007|OMIM:184705|GARD:0002727|Orphanet:3186|MESH:C566655 https://rarediseases.info.nih.gov/diseases/2727/steinfeld-syndrome owl:Class MONDO:0018439 biolink:NamedThing eosinophilic colitis Inflammation of the colon that is characterized by eosinic infiltration. tmpaxzxjjyw_mondo_relaxed.owl ICD9:558.42|UMLS:C0267448|ICD10:K52.8|ICD10:K52.82|SCTID:29120000|NCIT:C27053|Orphanet:402035 owl:Class MONDO:0016129 biolink:NamedThing eosinophilic gastroenteritis Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall. tmpaxzxjjyw_mondo_relaxed.owl EGE|eosinophilic gastroenterocolitis|eosinophilic enteritis|eosinophilic gastroenteritis UMLS:C1262481|SCTID:359804008|NCIT:C35330|MedDRA:10017902|ICD10:K52.8|GARD:0009142|ICD9:558.41|DOID:4031|Orphanet:2070 owl:Class MONDO:0023157 biolink:NamedThing fibular hypoplasia scapulo pelvic dysplasia absent tmpaxzxjjyw_mondo_relaxed.owl GARD:0002333 https://rarediseases.info.nih.gov/diseases/2333/fibular-hypoplasia-scapulo-pelvic-dysplasia-absent owl:Class GO:0022843 biolink:NamedThing voltage-gated cation channel activity Enables the transmembrane transfer of a cation by a voltage-gated channel. A cation is a positively charged ion. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033641 biolink:NamedThing cleft palate, proliferative retinopathy, and developmental delay tmpaxzxjjyw_mondo_relaxed.owl CPPRDD OMIM:619074 owl:Class MONDO:0001990 biolink:NamedThing malignant cardiac peripheral nerve sheath neoplasm A very rare malignant peripheral nerve sheath tumor that arises from the heart. tmpaxzxjjyw_mondo_relaxed.owl malignant Cardiac peripheral nerve sheath neoplasm|malignant Cardiac peripheral nerve sheath tumor|malignant neurilemmoma of heart|malignant heart schwannoma|MPNST of heart|Cardiac MPNST|malignant schwannoma of heart|Cardiac malignant peripheral nerve sheath tumor|malignant Cardiac schwannoma|malignant schwannoma of the heart|CARDIAC schwannoma, malignant|malignant peripheral nerve sheath neoplasm of the heart|malignant peripheral nerve sheath tumor of heart|malignant heart neurilemmoma|malignant heart peripheral nerve sheath tumor|MPNST of the heart|malignant neurilemmoma of the heart|heart malignant peripheral nerve sheath tumor|malignant peripheral nerve sheath tumor of the heart|malignant Cardiac neurilemmoma|malignant heart peripheral nerve sheath neoplasm|malignant peripheral nerve sheath neoplasm of heart|heart MPNST NCIT:C5367|UMLS:C1334569|DOID:14534 owl:Class MONDO:0017827 biolink:NamedThing malignant peripheral nerve sheath tumor Malignant peripheral nerve sheath tumor (MPNST) is a rare and often aggressive soft tissue sarcoma occurring in a wide range of anatomical sites. tmpaxzxjjyw_mondo_relaxed.owl malignant peripheral nerve sheath tumor|malignant neoplasm of the peripheral nerve sheath|neurofibrosarcoma|neurogenic sarcoma|malignant neurilemoma|schwannoma, malignant|malignant neoplasm of peripheral nerve sheath|MPNST|malignant schwannoma|malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)|malignant neurilemmoma|malignant peripheral nerve sheath tumour|malignant neurofibroma|malignant peripheral nerve sheath neoplasm|Malig. periph. nerve sheath tum.|neurofibrosarcoma, malignant|malignant peripheral nerve sheath tumor (morphologic abnormality)|malignant tumor of peripheral nerve sheath|malignant tumor of the peripheral nerve sheath ICDO:9540/3|ONCOTREE:MPNST|DOID:5940|UMLS:C0751690|GARD:0010872|Orphanet:3148|NCIT:C3798|ICD9:171.9|ICDO:9560/3|SCTID:404037002|MedDRA:10029236|ICD10:C47.9 owl:Class MONDO:0011780 biolink:NamedThing specific language impairment 3 tmpaxzxjjyw_mondo_relaxed.owl specific language impairment 3|specific language impairment quantitative trait locus on chromosome 13|SLI3 OMIM:607134|UMLS:C1846719 owl:Class MONDO:0019981 biolink:NamedThing unilateral multicystic dysplastic kidney Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional. tmpaxzxjjyw_mondo_relaxed.owl unilateral MCDK|unilateral multicystic renal dysplasia Orphanet:97363|ICD10:Q61.4|MESH:D021782 owl:Class MONDO:0002583 biolink:NamedThing mucinous ovarian cystadenoma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl benign mucinous cystadenoma of the ovary|benign mucinous cystadenoma of ovary|ovarian mucinous cystadenoma|benign ovarian mucinous cystadenoma|mucinous cystadenoma of the ovary|ovary mucinous cystadenoma|mucinous cystadenoma of ovary SCTID:119422004|UMLS:C0346172|DOID:3267|NCIT:C4512 owl:Class MONDO:0006859 biolink:NamedThing mucinous cystadenoma A benign or low malignant potential cystic epithelial neoplasm composed of cells which contain intracytoplasmic mucin. It may arise from the ovary, pancreas, appendix, and lung. tmpaxzxjjyw_mondo_relaxed.owl mucinous cystadenoma|pseudomucinous cystadenoma|mucinous cystoma|mucinous adenoma|adenoma, mucinous, benign NCIT:C2973|MESH:D018291|ICDO:8480/0|ICDO:8470/0|UMLS:C0010635|EFO:1001048 owl:Class MONDO:0002193 biolink:NamedThing Bartholin gland benign neoplasm A benign neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl Bartholin gland neoplasm|major vestibular gland benign neoplasm|tumor of Bartholin's gland DOID:2068|SCTID:189130001 owl:Class MONDO:0000626 biolink:NamedThing vestibular gland benign neoplasm A benign neoplasm that involves the vestibular gland. tmpaxzxjjyw_mondo_relaxed.owl vestibular gland benign neoplasm DOID:0060088 owl:Class MONDO:0004172 biolink:NamedThing uterine corpus adenocarcinofibroma A adenocarcinofibroma that involves the body of uterus. tmpaxzxjjyw_mondo_relaxed.owl body of uterus adenocarcinofibroma|adenocarcinofibroma of body of uterus DOID:7281 owl:Class MONDO:0002879 biolink:NamedThing uterine body mixed cancer A primary malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. This category includes carcinosarcoma, carcinofibroma, and adenosarcoma. tmpaxzxjjyw_mondo_relaxed.owl malignant corpus uteri mixed neoplasm|malignant mixed neoplasm of uterine corpus|malignant mixed tumor of the corpus uteri|malignant mixed tumor of the body of uterus|malignant mixed neoplasm of the uterine corpus|malignant body of uterus mixed neoplasm|malignant mixed tumor of corpus uteri|malignant mixed tumor of body of uterus|malignant mixed tumor of uterine corpus|malignant mixed tumor of uterine body|malignant mixed tumor of the uterine body|malignant mixed neoplasm of the uterine body|malignant body of uterus mixed tumor|malignant mixed neoplasm of the body of uterus|malignant mixed neoplasm of the corpus uteri|malignant uterine body mixed neoplasm|malignant uterine corpus mixed epithelial and mesenchymal neoplasm|malignant uterine corpus mixed tumor|malignant mixed tumor of the uterine corpus|malignant mixed neoplasm of body of uterus|malignant mixed neoplasm of uterine body|malignant corpus uteri mixed tumor|malignant mixed neoplasm of corpus uteri|malignant uterine body mixed tumor UMLS:C1334628|DOID:4114|NCIT:C6311 owl:Class GO:0051962 biolink:NamedThing positive regulation of nervous system development Any process that activates, maintains or increases the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. tmpaxzxjjyw_mondo_relaxed.owl stimulation of nervous system development|activation of nervous system development|upregulation of nervous system development|up-regulation of nervous system development|up regulation of nervous system development owl:Class GO:0051960 biolink:NamedThing regulation of nervous system development Any process that modulates the frequency, rate or extent of nervous system development, the origin and formation of nervous tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013052 biolink:NamedThing retinitis pigmentosa 42 Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 42|retinitis pigmentosa 42|RP42|retinitis pigmentosa caused by mutation in KLHL7|KLHL7 retinitis pigmentosa DOID:0110386|ICD10:H35.5|UMLS:C2751986|OMIM:612943|MESH:C567854 owl:Class HGNC:6309 biolink:NamedThing KERA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003271 biolink:NamedThing iodine hypothyroidism tmpaxzxjjyw_mondo_relaxed.owl DOID:5083|SCTID:190279008|ICD9:244.2|UMLS:C0154159 owl:Class MONDO:0005420 biolink:NamedThing hypothyroidism Abnormally low levels of thyroid hormone. tmpaxzxjjyw_mondo_relaxed.owl thyroid deficiency|hypothyroidism|underactive thyroid|thyroid insufficiency|hypothyroid ICD10:E03.9|DOID:1459|MESH:D007037|NCIT:C26800|ICD9:244.9|SCTID:40930008|EFO:0004705 owl:Class MONDO:0010630 biolink:NamedThing imprinting gene related to retinoblastoma tmpaxzxjjyw_mondo_relaxed.owl imprinting gene related to retinoblastoma OMIM:308290 owl:Class MONDO:0013227 biolink:NamedThing congenital plasminogen activator inhibitor type 1 deficiency Congenital plasminogen activator inhibitor type 1 (PAI-1) deficiency is a rare genetic bleeding disorder characterized by premature lysis of hemostatic clots and a moderate bleeding tendency. tmpaxzxjjyw_mondo_relaxed.owl congenital PAI-1 deficiency|plasminogen activator INHIBITOR-1 deficiency|hyperfibrinolysis due to Pai1 deficiency|plasminogen activator inhibitor type 1 deficiency|congenital plasminogen activator inhibitor type 1 deficiency GARD:0004381|OMIM:613329|NCIT:C133884|ICD10:D68.8|SCTID:717407006|Orphanet:465|MESH:C567640 owl:Class MONDO:8000012 biolink:NamedThing neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 tmpaxzxjjyw_mondo_relaxed.owl neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset|IMNEPD Orphanet:456312|OMIM:616263|UMLS:C4015728 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0024189 biolink:NamedThing neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:616263 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:15888 biolink:NamedThing RTEL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009778 biolink:NamedThing olivopontocerebellar atrophy II, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl olivopontocerebellar atrophy II, autosomal recessive|OPCA II, Fickler-Winkler type UMLS:C1850319|MESH:C564930|OMIM:258300 owl:Class MONDO:0011111 biolink:NamedThing horns in sheep tmpaxzxjjyw_mondo_relaxed.owl Ho|horns in sheep OMIM:601563 owl:Class HP:0000741 biolink:NamedThing Apathy tmpaxzxjjyw_mondo_relaxed.owl Lack of feeling, emotion, interest UMLS:C0085632|SNOMEDCT_US:20602000|MSH:D057565 human_phenotype owl:Class HP:0000745 biolink:NamedThing Diminished motivation A reduction in goal-directed behavior, that is, motivation, the determinant of behavior and adaptation that allows individuals to get started, be energized to perform a sustained and directed action. tmpaxzxjjyw_mondo_relaxed.owl Lacking in initiative|Lacks initiative|Lack of initiative|Lack of motivation|Diminished motivation SNOMEDCT_US:277521002|UMLS:C0456814 human_phenotype owl:Class MONDO:0013971 biolink:NamedThing leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency caused by mutation in EARS2|EARS2 combined oxidative phosphorylation deficiency|leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome|combined oxidative phosphorylation deficiency 12|combined oxidative phosphorylation deficiency type 12|LTBL|combined oxidative phosphorylation defect type 12|COXPD12|leukoencephalopathy with thalamus and brainstem involvement and high lactate SCTID:763366000|GARD:0013381|Orphanet:314051|DOID:0111493|OMIM:614924|UMLS:C3554079 owl:Class CL:0002145 biolink:NamedThing ciliated columnar cell of tracheobronchial tree A ciliated columnar cell found in the trachea and bronchus. Vary from low to tall columnar; possesses up to 300 cilia at its surface, interspersed with long irregular microvilli with the cilia varying in length from about 6um in the trachea to about 4um in the terminal bronchioles; driving force of the ciliary current in the bronchial tree. tmpaxzxjjyw_mondo_relaxed.owl FMA:70542 tmeehan 2010-08-24T03:38:29Z cell owl:Class CL:0002202 biolink:NamedThing epithelial cell of tracheobronchial tree An epithelial cell of the tracheobronchial tree. tmpaxzxjjyw_mondo_relaxed.owl FMA:66816 tmeehan 2010-09-02T02:09:14Z CL:1000407 cell owl:Class GO:0048580 biolink:NamedThing regulation of post-embryonic development Any process that modulates the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21504 biolink:NamedThing PRY2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002922 biolink:NamedThing positive regulation of humoral immune response Any process that activates or increases the frequency, rate, or extent of a humoral immune response. tmpaxzxjjyw_mondo_relaxed.owl stimulation of humoral immune response|upregulation of humoral immune response|up regulation of humoral immune response|up-regulation of humoral immune response|activation of humoral immune response owl:Class GO:0050778 biolink:NamedThing positive regulation of immune response Any process that activates or increases the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus. tmpaxzxjjyw_mondo_relaxed.owl upregulation of immune response|up-regulation of immune response|stimulation of immune response|up regulation of immune response owl:Class GO:1904363 biolink:NamedThing negative regulation of calcitonin secretion Any process that stops, prevents or reduces the frequency, rate or extent of calcitonin secretion. tmpaxzxjjyw_mondo_relaxed.owl downregulation of calcitonin secretion|inhibition of calcitonin secretion|down regulation of calcitonin secretion|down-regulation of calcitonin secretion owl:Class GO:1904362 biolink:NamedThing regulation of calcitonin secretion Any process that modulates the frequency, rate or extent of calcitonin secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000543 biolink:NamedThing positive regulation of gastrulation Any process that activates or increases the frequency, rate or extent of gastrulation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010470 biolink:NamedThing regulation of gastrulation Any process that modulates the rate or extent of gastrulation. Gastrulation is the complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024454 biolink:NamedThing sacral nerve plexus disorder A disease that involves the sacral nerve plexus. tmpaxzxjjyw_mondo_relaxed.owl disorder of sacral nerve plexus|disease of sacral nerve plexus|sacral plexopathy|disease or disorder of sacral nerve plexus|sacral nerve plexus disease or disorder|sacral nerve plexus disorder UMLS:C2931445|MESH:C537224|GARD:0007597 owl:Class MONDO:0015434 biolink:NamedThing ring chromosome 18 Ring chromosome 18 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. tmpaxzxjjyw_mondo_relaxed.owl R18|Ring chromosome type 18|chromosome 18 ring|Ring 18|Ring chromosome 18 syndrome GARD:0006077|SCTID:88154004|Orphanet:1442|UMLS:C0265475|MESH:C538304|EFO:0001226|ICD10:Q93.2 https://rarediseases.info.nih.gov/diseases/6077/ring-chromosome-18 owl:Class MONDO:0018186 biolink:NamedThing ring chromosome Aberrant chromosomes with no ends, i.e., circular. tmpaxzxjjyw_mondo_relaxed.owl supernumerary circular chromosome 2022-04-01 MESH:D012303|Orphanet:363203|NCIT:C3360|ICD10:Q93.2 Reason: grouping class. This term is from orphanet and refers specifically to autosomal chromosome. Consider MONDO:0700091, refering to both autosomal and gonosomal chromosomes. Term to consider: MONDO:0700091 MONDO:0700091 owl:Class CHEBI:35785 biolink:NamedThing sphingoid Sphinganine, its homologs and stereoisomers, and the hydroxy and unsaturated derivatives of these compounds. tmpaxzxjjyw_mondo_relaxed.owl Spd|sphingoid bases|sphingoid base|sphingoids|sphingoid owl:Class MONDO:0009255 biolink:NamedThing galactokinase deficiency Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice. tmpaxzxjjyw_mondo_relaxed.owl galactosemia 2|GALK deficiency|galactosemia II|Galk deficiency|galactokinase deficiency|galactokinase deficiency galactosemia|galactosemia type 2|hereditary galactokinase deficiency|GALK-D DOID:14695|ICD10:E74.29|MESH:D005693|NCIT:C114767|UMLS:C0268155|GARD:0002422|ICD10:E74.2|OMIM:230200|Orphanet:352|SCTID:124302001|Orphanet:79237 https://rarediseases.info.nih.gov/diseases/2422/galactokinase-deficiency owl:Class MONDO:0018116 biolink:NamedThing galactosemia Galactosemia is a group of rare genetic metabolic disorders characterized by impaired galactose metabolism resulting in a range of variable manifestations encompassing a severe, life-threatening disease (classic galactosemia), a rare mild form (galactokinase deficiency) causing cataract, and a very rare form with variable severity (galactose epimerase deficiency) resembling classic galactosemia in the severe form. tmpaxzxjjyw_mondo_relaxed.owl galactosemia|galactose intolerance|galactosaemia MESH:D005693|UMLS:C0016952|DOID:9870|ICD9:271.1|MedDRA:10017604|ICD10:E74.2|OMIM:230400|GARD:0002424|OMIM:230200|Orphanet:352|ICD10:E74.21|SCTID:190745006|OMIM:230350|NCIT:C84723|OMIMPS:230400 owl:Class MONDO:0021005 biolink:NamedThing faciodigitogenital syndrome A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome. tmpaxzxjjyw_mondo_relaxed.owl faciogenital dysplasia|Aarskog-Scott syndrome|Aarskog syndrome ICD10:Q87.1|OMIM:305400|MedDRA:10067148|OMIM:100050 owl:Class CL:0002266 biolink:NamedThing type D cell of small intestine A type D cell of the small intestine. tmpaxzxjjyw_mondo_relaxed.owl small intestine D-cell|delta cell of small intestine|small intestine delta cell FMA:268736 tmeehan 2010-09-10T01:34:22Z cell owl:Class CL:0009006 biolink:NamedThing enteroendocrine cell of small intestine An enteroendocrine cell that is located in the small intestine. tmpaxzxjjyw_mondo_relaxed.owl small intestine enteroendocrine cell owl:Class HP:0000233 biolink:NamedThing Thin vermilion border Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). tmpaxzxjjyw_mondo_relaxed.owl Thin lips|Decreased volume of lip vermillion|Decreased volume of lip|Thin vermilion borders|Thin vermillion UMLS:C0578038|SNOMEDCT_US:301348000 The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. HP:0000213 human_phenotype owl:Class HP:0000159 biolink:NamedThing Abnormal lip morphology An abnormality of the lip. tmpaxzxjjyw_mondo_relaxed.owl Malformation of lip|Deformity of lip|Abnormality of the lip|Anomaly of lip|Lip abnormality|Abnormal lip UMLS:C2183966 human_phenotype owl:Class HGNC:19743 biolink:NamedThing POMT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008872 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism type II 'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.' tmpaxzxjjyw_mondo_relaxed.owl microcephalic osteodysplastic primordial dwarfism type 2|osteodysplastic primordial dwarfism type 2|osteodysplastic primordial dwarfism type II|Mopd 2|osteodysplastic primordial dwarfism, type 2|microcephalic osteodysplastic primordial dwarfism, type 2|microcephalic osteodysplastic primordial dwarfism, type II|MOPD type II|Majewski osteodysplastic primordial dwarfism type II|microcephalic osteodysplastic primordial dwarfism with tooth abnormalities|MOPD2|MOPD II GARD:0009844|ICD10:Q87.1|DOID:0060609|Orphanet:2637|SCTID:254103003|OMIM:210720|MESH:C565898 https://rarediseases.info.nih.gov/diseases/9844/microcephalic-osteodysplastic-primordial-dwarfism-type-2 owl:Class OBO:MF_0000061 biolink:NamedThing orgasm Orgasm is the sudden discharge of accumulated sexual tension during the sexual response cycle, resulting in rhythmic muscular contractions in the pelvic region characterized by sexual pleasure. http://en.wikipedia.org/wiki/Orgasm tmpaxzxjjyw_mondo_relaxed.owl sexual climax MFOMD_0000207 owl:Class OBO:MF_0000020 biolink:NamedThing mental process A mental process is a bodily process that is of a type such that it can of itself be conscious. Examples include thinking, feeling pain, remembering and emotion as occurrent experiences. tmpaxzxjjyw_mondo_relaxed.owl A bodily process which brings into being, sustains or modifies a cognitive representation or a beahvior inducing state. GO:0050890, cognition, defined as `The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.' owl:Class MONDO:0011899 biolink:NamedThing Noonan syndrome-like disorder with loose anagen hair Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays. tmpaxzxjjyw_mondo_relaxed.owl Noonan-like syndrome with loose anagen hair|Noonan syndrome-like disorder with loose anagen hair|Tosti syndrome|NSLH|NS/LAH|NSLH1|Noonan syndrome-like disorder with loose anagen hair 1 OMIMPS:607721|ICD10:Q87.1|MESH:C564342|GARD:0010719|Orphanet:2701|UMLS:C3501846|UMLS:C1843181|SCTID:723444009 owl:Class MONDO:0017295 biolink:NamedThing glycerol kinase deficiency, juvenile form Juvenile glycerol kinase deficiency (GKD) is an uncommon form of GKD characterized by Reye-like clinical manifestations including episodic vomiting, acidemia, and disorders of consciousness. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E74.8|Orphanet:284411|OMIM:307030 owl:Class MONDO:0018977 biolink:NamedThing polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG Polyneuropathy associated with IgM monoclonal gammapathy (MG) with anti-MAG (myelin-associated-glycoprotein) activity is a demyelinating polyneuropathy characterized clinically by sensory ataxia, tremor, paresthesia, and impaired gait. tmpaxzxjjyw_mondo_relaxed.owl anti-MAG neuropathy|neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein UMLS:C1736154|Orphanet:639|ICD10:G61.8 owl:Class MONDO:0016169 biolink:NamedThing chronic acquired demyelinating polyneuropathy Chronic form of acquired peripheral neuropathy. tmpaxzxjjyw_mondo_relaxed.owl acquired peripheral neuropathy, chronic|CADP|chronic acquired peripheral neuropathy Orphanet:208974 owl:Class MONDO:0008267 biolink:NamedThing orofaciodigital syndrome V Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). tmpaxzxjjyw_mondo_relaxed.owl orofaciodigital syndrome V|polydactyly, postaxial, with median cleft of upper lip|orofaciodigital syndrome type 5|Thurston syndrome|Ofds 5|orofaciodigital syndrome Thurston type|oral facial digital syndrome type 5|orofaciodigital syndrome type V|polydactyly, postaxial, with Median cleft of upper lip|OFD syndrome 5|orofaciodigital syndrome, Thurston type|orofaciodigital syndrome 5|oral-Facial-digital syndrome, type 5|oral facial digital syndrome 5|oral-facial-digital syndrome 5|OFD5|oral-facial-digital syndrome type 5|polydactyly postaxial with median cleft of upper lip GARD:0004120|OMIM:174300|ICD10:Q87.0|UMLS:C1868118|DOID:0060375|MESH:C557819|Orphanet:2919|SCTID:722105002 https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5 owl:Class ENVO:01001215 biolink:NamedThing visible spectrum stellar radiation A stellar radiation process during which electromagnetic waves or their quanta are emitted from a star at wavelengths between 380 nm and 760 nm. tmpaxzxjjyw_mondo_relaxed.owl optical stellar radiation|visible spectrum solar radiation owl:Class ENVO:21001215 biolink:NamedThing visible spectrum radiation A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 380 nm and 760 nm. tmpaxzxjjyw_mondo_relaxed.owl visible light|optical radiation owl:Class GO:0008233 biolink:NamedThing peptidase activity Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid. tmpaxzxjjyw_mondo_relaxed.owl hydrolase, acting on peptide bonds|proteinase activity|protease activity|peptide hydrolase activity|peptidase activity, acting on L-amino acid peptides|peptidase activity, acting on D-amino acid peptides owl:Class GO:0140096 biolink:NamedThing catalytic activity, acting on a protein Catalytic activity that acts to modify a protein. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011132 biolink:NamedThing intercarpal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001489 biolink:NamedThing manus joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0036976 biolink:NamedThing benign epithelial neoplasm A neoplasm arising from the epithelial cells. It is characterized by the absence of morphologic features associated with malignancy (severe cytologic atypia, tumor cell necrosis, and high mitotic rate). Benign epithelial neoplasms remain confined to the original site of growth and only rarely metastasize to other anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl benign epithelioma|benign neoplasm of epithelium|benign tumor of the epithelium|benign epithelial neoplasm|benign epithelial tumor|benign neoplasm of the epithelium|epithelial neoplasm, benign|benign tumor of epithelium|epithelioma, benign ICDO:8011/0|ICDO:8010/0|UMLS:C0334232|NCIT:C4092 owl:Class MONDO:0007969 biolink:NamedThing Melkersson-Rosenthal syndrome The Melkersson-Rosenthal syndrome is a rare disorder characterized by a triad of recurrent orofacial swelling, relapsing facial paralysis and fissured tongue and onset in childhood or early adolescence. It has an estimated incidence of 8/10,000. The etiology is unknown but hereditary predisposition is suspected. tmpaxzxjjyw_mondo_relaxed.owl MRS|Mros|Melkersson-Rosenthal syndrome|cheilitis Granulomatosa|Melkersson syndrome|Melkersson's syndrome|cheilitis granulomatosa of Mescher-Melkersson-Rosenthal GARD:0007010|UMLS:C0025235|MESH:D008556|DOID:1761|OMIM:155900|NCIT:C84886|Orphanet:2483|MedDRA:10027166|EFO:1001039|ICD10:G51.2 https://rarediseases.info.nih.gov/diseases/7010/melkersson-rosenthal-syndrome owl:Class MONDO:0003766 biolink:NamedThing thalamic cancer A cancer involving a dorsal plus ventral thalamus. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the thalamus|dorsal plus ventral thalamus cancer|malignant tumor of the thalamus|malignant dorsal plus ventral thalamus neoplasm|malignant thalamus tumor|tumor of thalamus|thalamic neoplasm|malignant thalamic tumor|malignant thalamus tumors|malignant thalamus neoplasm|malignant neoplasm of dorsal plus ventral thalamus|malignant tumor of thalamus|cancer of dorsal plus ventral thalamus|malignant thalamic neoplasm|malignant thalamic tumors|malignant thalamus neoplasms|malignant neoplasm of thalamus|malignant thalamic neoplasms DOID:6098|NCIT:C4576|UMLS:C0346902|SCTID:188287005 owl:Class HGNC:9202 biolink:NamedThing POMT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006656 biolink:NamedThing aortitis Inflammation of the aorta. Causes include trauma, infectious disorders, and connective tissue disorders. tmpaxzxjjyw_mondo_relaxed.owl aorta inflammation|inflammation of aorta EFO:1000816|MESH:D001025|NCIT:C97085|UMLS:C0003509|DOID:519|ICD10:I77.6|MedDRA:10002921|SCTID:70933002 owl:Class HP:0010980 biolink:NamedThing Hyperlipoproteinemia An abnormal increase in the level of lipoprotein cholesterol in the blood. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020476|MSH:D006951|SNOMEDCT_US:3744001 peter 2011-02-07T10:56:30Z human_phenotype owl:Class HP:0010979 biolink:NamedThing Abnormality of lipoprotein cholesterol concentration An abnormal increase or decrease in the level of lipoprotein cholesterol in the blood. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the level of lipoprotein cholesterol UMLS:C4023615 Lipoproteins transport fats (lipids) in the blood circulation. Lipids are insoluble in water, meaning that they could not be transported in the blood circulation on their own. There are five major types of lipoproteins: (i) chylomicrons; VLDL (very low-density lipoprotein); (iii) IDL (intermediate-density lipoprotein); (iv) LDL (low-density lipoprotein); and (v) HDL (high-density lipoprotein). Clinical measures assess the amount of cholesterol carried by different lipoproteins. For instance, LDL-cholesterol (LDL-C) is the maount of cholesterol carried by LDL. peter 2011-02-07T09:47:29Z human_phenotype owl:Class MONDO:0024568 biolink:NamedThing infantile liver failure syndrome 1 Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene. tmpaxzxjjyw_mondo_relaxed.owl acute infantile liver failure - multisystemic involvement syndrome|infantile liver failure caused by mutation in Lars|LARS infantile liver failure|Lars infantile liver failure|infantile liver failure syndrome 1|infantile liver failure syndrome type 1|ILFS1|infantile liver failure caused by mutation in LARS UMLS:C3809522|GARD:0013114|OMIM:615438|Orphanet:370088|ICD10:K72.0 MONDO:0014188 owl:Class CL:1000320 biolink:NamedThing large intestine goblet cell A goblet cell that is part of the epithelium of large intestine. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of epithelium of large intestine FMA:263054 cell owl:Class CL:0000160 biolink:NamedThing goblet cell A cell of the epithelial lining that produce and secrete mucins. tmpaxzxjjyw_mondo_relaxed.owl chalice cell FMA:13148|http://en.wikipedia.org/wiki/Goblet_cell|BTO:0001540 cell owl:Class MONDO:0011594 biolink:NamedThing ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis tmpaxzxjjyw_mondo_relaxed.owl gonadal dysgenesis, hypergonadotropic, 20 type, with short stature and recurrent metabolic acidosis|ovarian dysgenesis, hypergonadotropic, with short stature and recurrent metabolic acidosis UMLS:C3148970|OMIM:605756 owl:Class MONDO:0021927 biolink:NamedThing arthrogryposis epileptic seizures migrational brain disorder tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder MESH:C537442|GARD:0000781|UMLS:C2931495 https://rarediseases.info.nih.gov/diseases/781/arthrogryposis-epileptic-seizures-migrational-brain-disorder owl:Class HGNC:4933 biolink:NamedThing HLA-C tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001074 biolink:NamedThing pericardial cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002323 biolink:NamedThing coelemic cavity lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0010006 biolink:NamedThing cell morphology A quality of a single cell inhering in the bearer by virtue of the bearer's size or shape or structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014404 biolink:NamedThing female anatomical structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014402 biolink:NamedThing sex-specific anatomical structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045719 biolink:NamedThing negative regulation of glycogen biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen. tmpaxzxjjyw_mondo_relaxed.owl down regulation of glycogen biosynthetic process|negative regulation of glycogen anabolism|down-regulation of glycogen biosynthetic process|negative regulation of glycogen formation|downregulation of glycogen biosynthetic process|inhibition of glycogen biosynthetic process|negative regulation of glycogen biosynthesis|negative regulation of glycogen synthesis owl:Class HP:0005339 biolink:NamedThing Abnormality of complement system An abnormality of the complement system. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025213 The complement system represents a family of over 25 serum proteins and cell surface receptors that act in a cascade manner leading to innate functions such as inflammation and enhancement of adaptive immunity. Three general pathways, i.e. classical, lectin and alternative, activate the complement system. peter 2008-03-26T07:58:00Z HP:0025541 human_phenotype owl:Class HP:0005368 biolink:NamedThing Abnormality of humoral immunity An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. tmpaxzxjjyw_mondo_relaxed.owl Defective humoral immunity UMLS:C3150510 human_phenotype owl:Class MONDO:0004122 biolink:NamedThing thymus small cell carcinoma An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies. tmpaxzxjjyw_mondo_relaxed.owl Thymus small cell carcinoma|small cell carcinoma of the Thymus|small cell carcinoma of Thymus|thymus small cell carcinoma|thymic small cell carcinoma neuroendocrine type|small cell carcinoma of thymus|thymic small cell carcinoma NCIT:C6460|UMLS:C1335980|EFO:1000578|DOID:7142 owl:Class MONDO:0020516 biolink:NamedThing thymic neuroendocrine carcinoma Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation. tmpaxzxjjyw_mondo_relaxed.owl thymus neuroendocrine carcinoma|neuroendocrine carcinoma of thymus|thymic neuroendocrine carcinoma SCTID:716653001|UMLS:C2210965|Orphanet:99869|UMLS:CN207412|ICD10:C37 owl:Class UBERON:0005276 biolink:NamedThing dorsal skin of finger tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003533 biolink:NamedThing manual digit skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011575 biolink:NamedThing cerebrooculonasal syndrome Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay. tmpaxzxjjyw_mondo_relaxed.owl cerebrooculonasal syndrome GARD:0003480|ICD10:Q87.0|Orphanet:66625|OMIM:605627|UMLS:C1854108|MESH:C565313|SCTID:720855003 https://rarediseases.info.nih.gov/diseases/3480/cerebrooculonasal-syndrome owl:Class UBERON:0007832 biolink:NamedThing pelvic girdle skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:37020 biolink:NamedThing Oryzomys palustris tmpaxzxjjyw_mondo_relaxed.owl marsh rice rat GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:29122 biolink:NamedThing Oryzomys tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011034 biolink:NamedThing odontomicronychial dysplasia Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. tmpaxzxjjyw_mondo_relaxed.owl odontomicronychial dysplasia|ectodermal dysplasia, nail/Tooth type|odonto-micronychial dysplasia GARD:0004053|Orphanet:1811|OMIM:601319|MESH:C537741|UMLS:C1832473 https://rarediseases.info.nih.gov/diseases/4053/odontomicronychial-dysplasia owl:Class NCBITaxon:207245 biolink:NamedThing Fornicata tmpaxzxjjyw_mondo_relaxed.owl Diplomonadida group GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2611341 biolink:NamedThing Metamonada tmpaxzxjjyw_mondo_relaxed.owl PMID:30257078|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009999 biolink:NamedThing autosomal recessive Robinow syndrome Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia. tmpaxzxjjyw_mondo_relaxed.owl Robinow syndrome, autosomal recessive|Covesdem syndrome|costovertebral segmentation defect-mesomelia syndrome|costovertebral segmentation defect with mesomelia|costovertebral segmentation defect with mesomelia, formerly|RRS|Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals|Covesdem syndrome, formerly|Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly|COVESDEM syndrome Orphanet:1507|Orphanet:97360|ICD10:Q87.1|OMIM:268310|MESH:C535863|UMLS:C1849334|DOID:0060764 owl:Class MONDO:0019978 biolink:NamedThing Robinow syndrome Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. tmpaxzxjjyw_mondo_relaxed.owl Robinow-Silverman-Smith syndrome|acral dysostosis with facial and genital abnormalities|mesomelic dwarfism-small genitalia syndrome|costovertebral segmentation defect with mesomelia (formerly)|Robinow dwarfism|Covesdem syndrome (formerly)|fetal face syndrome OMIM:616894|OMIM:616331|GARD:0000312|SCTID:76520005|OMIMPS:268310|UMLS:CN776872|UMLS:C0265205|Orphanet:97360|OMIM:180700|OMIM:268310|NCIT:C85048|ICD10:Q87.1|DOID:0060254 owl:Class MONDO:0019926 biolink:NamedThing X small rings X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:96201|ICD10:Q99.8|SCTID:766760004 owl:Class MONDO:0002874 biolink:NamedThing testicular pure germ cell tumor A germ cell tumor that arises from the testis and is characterized by the presence of one histologic component. This category includes seminoma, teratoma, embryonal carcinoma, yolk sac tumor, and trophoblastic tumor. tmpaxzxjjyw_mondo_relaxed.owl testicular Pure germ cell tumor NCIT:C39915|UMLS:C1514608|DOID:4087 owl:Class MONDO:0100081 biolink:NamedThing sleep disorder A change from the patient's baseline sleeping pattern, in the hours slept and/or an alteration/dysfunction in the stages of sleep. tmpaxzxjjyw_mondo_relaxed.owl sleep disturbances|parasomnia|disturbances, sleep|sleep disturbance NCIT:C3376 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0030812 biolink:NamedThing negative regulation of nucleotide catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. tmpaxzxjjyw_mondo_relaxed.owl downregulation of nucleotide catabolic process|down-regulation of nucleotide catabolic process|negative regulation of nucleotide breakdown|negative regulation of nucleotide degradation|negative regulation of nucleotide catabolism|inhibition of nucleotide catabolic process|down regulation of nucleotide catabolic process owl:Class GO:1905503 biolink:NamedThing regulation of motile cilium assembly Any process that modulates the frequency, rate or extent of motile cilium assembly. tmpaxzxjjyw_mondo_relaxed.owl regulation of motile primary cilia assembly|regulation of motile primary cilia formation|regulation of nodal cilium assembly|regulation of motile primary cilium assembly|regulation of motile primary cilium formation|regulation of nodal cilium formation owl:Class MONDO:0019609 biolink:NamedThing Zellweger spectrum disorders The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. tmpaxzxjjyw_mondo_relaxed.owl Zellweger syndrome|ZWS|ZS|cerebrohepatorenal syndrome|Zellweger leukodystrophy|congenital iron overload|Zellweger spectrum disorders OMIM:214100|OMIM:614876|SCTID:88469006|OMIM:614882|MESH:D015211|UMLS:C0043459|GARD:0007917|ICD10:Q87.8|OMIM:614862|OMIM:614859|NCIT:C85239|DOID:905|OMIM:614883|ICD10:E71.510|OMIM:614870|OMIM:614887|OMIM:614866|Orphanet:912|OMIM:214110|OMIM:614886|OMIM:614872 Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 https://github.com/monarch-initiative/mondo/pull/2571/|https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0005662 biolink:NamedThing 4th arch ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001048 biolink:NamedThing sediment environment An environmental system which has its properties and dynamics determined by sediment. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000998 biolink:NamedThing environmental system determined by a material An environmental system within which an environmental material strongly influences the system's composition and properties. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010742 biolink:NamedThing bone of pelvic complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010740 biolink:NamedThing bone of appendage girdle complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16999 biolink:NamedThing CLP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018960 biolink:NamedThing congenital primary megaureter Congenital primary megaureter (PM) is an idiopathic condition in which the bladder and bladder outlet are normal but the ureter is dilated to some extent. It may be obstructed, refluxing or unobstructed and not refluxing. tmpaxzxjjyw_mondo_relaxed.owl congenital primary megalo-ureter|congenital megalo-ureter|CGM|congenital giant megaureter SCTID:717459000|GARD:0001492|Orphanet:617|ICD10:Q62.2|GARD:0000219 https://rarediseases.info.nih.gov/diseases/1492/congenital-megalo-ureter|https://rarediseases.info.nih.gov/diseases/219/congenital-giant-megaureter owl:Class MONDO:0015934 biolink:NamedThing non-syndromic urogenital tract malformation of male and female tmpaxzxjjyw_mondo_relaxed.owl isolated urogenital tract malformation of male and female|nonsyndromic urogenital tract malformation of male and female Orphanet:182124 Editor note: consider obsoleting as semantics not clear owl:Class NCBITaxon:8016 biolink:NamedThing Oncorhynchus tmpaxzxjjyw_mondo_relaxed.owl Parasalmo GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:504568 biolink:NamedThing Salmoninae tmpaxzxjjyw_mondo_relaxed.owl trouts, salmons & chars GC_ID:1 ncbi_taxonomy owl:Class GO:0006821 biolink:NamedThing chloride transport The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015698 biolink:NamedThing inorganic anion transport The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C36278 biolink:NamedThing Finding by Site or System tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C3367 biolink:NamedThing Finding tmpaxzxjjyw_mondo_relaxed.owl Finding owl:Class MONDO:0015823 biolink:NamedThing primary immunodeficiency due to a defect in adaptive immunity tmpaxzxjjyw_mondo_relaxed.owl Orphanet:179006 owl:Class MONDO:0006992 biolink:NamedThing syphilitic aortitis Cardiovascular manifestations of syphilis, an infection of treponema pallidum. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the aorta and the aortic valve. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic aneurysm. tmpaxzxjjyw_mondo_relaxed.owl ICD9:093.1|MedDRA:10042900|UMLS:C0003511|EFO:1001206|SCTID:20735004|ICD10:A52.02 owl:Class CHEBI:35358 biolink:NamedThing sulfonamide An amide of a sulfonic acid RS(=O)2NR'2. tmpaxzxjjyw_mondo_relaxed.owl sulfonamides owl:Class CHEBI:33552 biolink:NamedThing sulfonic acid derivative tmpaxzxjjyw_mondo_relaxed.owl sulfonic acid derivatives|derivatives of sulfonic acid|sulfonic acid derivative owl:Class UBERON:0011004 biolink:NamedThing pharyngeal arch cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003933 biolink:NamedThing cranial cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0009064 biolink:NamedThing Generalized lipodystrophy Generalized degenerative changes of the fat tissue. tmpaxzxjjyw_mondo_relaxed.owl Generalised lipodystrophy|Lipodystrophy, generalised|Lipodystrophy, generalized UMLS:C0221032|MSH:D052497|SNOMEDCT_US:284449005|SNOMEDCT_US:86907008 HP:0008966 human_phenotype owl:Class HP:0009125 biolink:NamedThing Lipodystrophy Degenerative changes of the fat tissue. tmpaxzxjjyw_mondo_relaxed.owl Inability to make and keep healthy fat tissue SNOMEDCT_US:71325002|MSH:D008060|UMLS:C0023787 peter 2008-04-05T11:40:00Z human_phenotype owl:Class MONDO:0014454 biolink:NamedThing Hennekam lymphangiectasia-lymphedema syndrome 2 Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene. tmpaxzxjjyw_mondo_relaxed.owl FAT4 Hennekam syndrome|Hennekam syndrome caused by mutation in FAT4|Hennekam lymphangiectasia-lymphedema syndrome 2|HKLLS2|Hennekam lymphangiectasia-lymphedema syndrome type 2 OMIM:616006|Orphanet:2136|UMLS:C4014939 owl:Class MONDO:0032610 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 5 tmpaxzxjjyw_mondo_relaxed.owl MC1DN5|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 OMIM:618226 owl:Class NCBITaxon:2611352 biolink:NamedThing Discoba tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007733 biolink:NamedThing holoprosencephaly 3 Any holoprosencephaly in which the cause of the disease is a mutation in the SHH gene. tmpaxzxjjyw_mondo_relaxed.owl holoprosencephaly 3|holoprosencephaly caused by mutation in SHH|holoprosencephaly caused by mutation in Shh|HLP3|holoprosencephaly type 3|SHH holoprosencephaly|Shh holoprosencephaly|Hlp3|HPE3 Orphanet:2162|DOID:0110875|UMLS:C1840529|OMIM:142945|MESH:C564181 owl:Class ENVO:01001684 biolink:NamedThing interface layer A layer which separates two portions of environmental material which possess 1) differing compositions, 2) a discontinuity of some property, or 3) some derivative of some property in a direction normal to the interface. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000281 biolink:NamedThing layer A layer is a quantity of some material which is spatially continuous, has comparable thickness, and usually covers some surface. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013957 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency A rare genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guerin (BCG). tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency type 32A|IRF8 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|MSMD due to partial IRF8 deficiency|MSMD due to partial interferon regulatory factor 8 deficiency|CD11c-positive/CD1c-positive Dendritic cell deficiency, autosomal dominant|immunodeficiency 32A|Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficiency 32A, Mycobacteriosis, autosomal dominant|IRF8 deficiency, autosomal dominant|IMD32A|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IRF8 UMLS:C3808589|OMIM:614893|ICD10:D84.8|Orphanet:319600 owl:Class MONDO:0010970 biolink:NamedThing cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies tmpaxzxjjyw_mondo_relaxed.owl cleft palate, CARDIAC defects, and intellectual disability|cleft palate, Cardiac defects, and intellectual disability|cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies|cleft palate, CARDIAC defects, and mental retardation|cleft palate, Cardiac defects, and mental retardation|CPCMR DOID:0111697|MESH:C563414|UMLS:C1832950|OMIM:600987 owl:Class GO:0099171 biolink:NamedThing presynaptic modulation of chemical synaptic transmission Any process, acting in the presynapse that results in modulation of chemical synaptic transmission. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003195 biolink:NamedThing peritoneal serous adenocarcinoma A rare, serous adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous adenocarcinoma that arises from the ovary. tmpaxzxjjyw_mondo_relaxed.owl peritoneum serous adenocarcinoma|primary peritoneal serous adenocarcinoma DOID:4901 owl:Class MONDO:0002113 biolink:NamedThing peritoneal carcinoma A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement. tmpaxzxjjyw_mondo_relaxed.owl peritoneum carcinoma|carcinoma of peritoneum|primary peritoneal carcinoma SCTID:447781009|DOID:1791 owl:Class MONDO:0011010 biolink:NamedThing Matthew-Wood syndrome Matthew-Wood syndrome is a rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia, isolated, with coloboma 8|spear syndrome|anophthalmia, clinical, with mild Facial Dysmorphism and variable malformations of the lung, heart, and diaphragm|anophthalmia/microphthalmia and pulmonary hypoplasia|microphthalmia, syndromic type 9|microphthalmia syndromic type 9|pulmonary Hypoplasia-diaphragmatic hernia-anophthalmia-Cardiac defect|Matthew-Wood syndrome|microphthalmia syndromic 9|clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations|microphthalmia, syndromic 9|pulmonary agenesis microphthalmi and diaphragmatic defect|pulmonary agenesis, microphthalmia, and diaphragmatic defect|anophthalmia-pulmonary hypoplasia syndrome|syndromic microphthalmia type 9|MCOPS9|Matthew Wood syndrome ICD10:Q11.2|Orphanet:2470|MESH:C537768|SCTID:722458000|DOID:0111807|GARD:0000713|Orphanet:98938|OMIM:615524|UMLS:C1832661|OMIM:601186|DOID:0050819 owl:Class GO:0051223 biolink:NamedThing regulation of protein transport Any process that modulates the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010435 biolink:NamedThing nystagmus 6, congenital, X-linked tmpaxzxjjyw_mondo_relaxed.owl NYSTAGMUS 6, congenital, X-linked|nystagmus 6, congenital, X-linked|NYS6 OMIM:300814|UMLS:C3151752 owl:Class CHEBI:33958 biolink:NamedThing halide salt tmpaxzxjjyw_mondo_relaxed.owl halides|halide salts owl:Class CHEBI:37578 biolink:NamedThing halide Any heteroatomic molecular entity that is a chemical compound of halogen with other chemical elements. tmpaxzxjjyw_mondo_relaxed.owl halides owl:Class UBERON:0036245 biolink:NamedThing parenchyma of mammary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000353 biolink:NamedThing parenchyma tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021635 biolink:NamedThing neurocristopathy That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage. tmpaxzxjjyw_mondo_relaxed.owl disorder of neural crest development|neural crest cell development disease|disorder of neural crest cell development owl:Class GO:1905209 biolink:NamedThing positive regulation of cardiocyte differentiation Any process that activates or increases the frequency, rate or extent of cardiocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl up regulation of cardiac cell differentiation|up-regulation of heart cell differentiation|activation of cardiocyte differentiation|up-regulation of cardiocyte differentiation|activation of heart cell differentiation|upregulation of heart cell differentiation|up regulation of cardiocyte differentiation|activation of cardiac cell differentiation|positive regulation of cardiac cell differentiation|up-regulation of cardiac cell differentiation|upregulation of cardiac cell differentiation|upregulation of cardiocyte differentiation|positive regulation of heart cell differentiation|up regulation of heart cell differentiation owl:Class UBERON:0003914 biolink:NamedThing epithelial tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015265 biolink:NamedThing bronchiolitis obliterans with obstructive pulmonary disease Bronchiolitis obliterans syndrome (BOS) is a lung disorder that is mainly associated with chronic allograft dysfunction after lung transplantation and that is characterized by inflammation and fibrosis of bronchiolar walls that reduce the diameter of the bronchioles and result in progressive and irreversible airflow obstruction. tmpaxzxjjyw_mondo_relaxed.owl constrictive bronchiolitis|bronchiolitis obliterans|bronchiolitis exudativa|organizing pneumonia|bronchiolitis fibrosa obliterans|organized pneumonia|BOOP|obliterative bronchiolitis|bo HP:0011946|SCTID:40100001|EFO:0007183|NCIT:C62580|DOID:2799|Orphanet:1303|ICD10:J44.8|UMLS:CN199179|GARD:0009551|ICD9:466.19|ICD9:491.8 Editor note: TODO check this MONDO:0005681 owl:Class GO:0099602 biolink:NamedThing neurotransmitter receptor regulator activity A molecular function that directly (via physical interaction or direct modification) activates, inhibits or otherwise modulates the activity of a neurotransmitter receptor. Modulation of activity includes changes in desensitization rate, ligand affinity, ion selectivity and pore-opening/closing. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030545 biolink:NamedThing signaling receptor regulator activity Binds to and modulates the activity of a receptor. tmpaxzxjjyw_mondo_relaxed.owl receptor regulator activity owl:Class UBERON:0008307 biolink:NamedThing heart endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045089 biolink:NamedThing positive regulation of innate immune response Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. tmpaxzxjjyw_mondo_relaxed.owl stimulation of innate immune response|upregulation of innate immune response|up regulation of innate immune response|up-regulation of innate immune response owl:Class UBERON:0011154 biolink:NamedThing gular region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003102 biolink:NamedThing surface structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010699 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 5 X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, X-linked recessive, 5|Charcot-Marie-Tooth disease, X-linked recessive, 5|familial opticoacoustic nerve degeneration and polyneuropathy|Charcot-Marie-Tooth neuropathy X type 5|Charcot-Marie-Tooth neuropathy X-linked recessive 5|CMTX5|X-linked Charcot-Marie-Tooth disease type 5|optic atrophy, sensorineural hearing loss and polyneuropathy|Charcot-Marie-Tooth disease, X-linked recessive, type 5|Charcot-Marie-Tooth disease X-linked recessive type 5|Rosenberg-Chutorian syndrome|CMT5X|optic atrophy, polyneuropathy, and deafness SCTID:763460007|UMLS:C1839566|ICD10:G60.0|Orphanet:99014|GARD:0000114|DOID:0110210|OMIM:311070 owl:Class MONDO:0001275 biolink:NamedThing spinal meningioma Spinal meningioma isa rare type of spinal cord cancer. The spinal cord is part of the central nervous system. This tumor often affects middle-aged women. Tumors of the spinal cord can be either primary or arise from other primary tumors (metastatic), and are typically slow growing. The initial signs and symptoms include headacheand recent onset of seizures. Other features are motor deficits, sensory deficits, pain, and sphincter dysfunction. The thoracic spine (middle back) is the most common site, followed by the cervical spine (neck). These tumors are rarely seen in the lumbar region (lower back). T he only proven risk factor in the development of meningioma is exposure to ionizing radiation. Also, patients with neurofibromatosis type 2 are at increased risk of developing meningioma. Surgery is the treatment of choice and complete tumor removal is reached in the vast majority of patients. The prognosis after surgical resection is excellent. tmpaxzxjjyw_mondo_relaxed.owl meningioma (disease) of spinal cord|spinal cord meningioma (disease)|meningioma, spine|meningioma of the spinal cord|spinal cord meningioma|meningioma of spinal cord MESH:D008579|DOID:1138|GARD:0010264|UMLS:C0347515|NCIT:C6935|SCTID:189167009 https://rarediseases.info.nih.gov/diseases/10264/spinal-meningioma owl:Class MONDO:0002473 biolink:NamedThing cystic kidney disease A congenital or acquired kidney disorder characterized by the presence of renal cysts. tmpaxzxjjyw_mondo_relaxed.owl kidney cyst|renal cyst|cystic renal disease SCTID:722223000|NCIT:C34750|UMLS:C0022679|ICD10:Q61|MESH:D052177|DOID:2975 owl:Class PO:0009006 biolink:NamedThing shoot system A collective plant organ structure (PO:0025007) that produces shoot-borne portions of meristem tissue (PO:0009013) and the plant structures (PO:0009011) that arise from them. tmpaxzxjjyw_mondo_relaxed.owl thalli (related)|tree crown (narrow)|Poaceae crown (related)|sistema de epiblasto (epiblastema) (Spanish, exact)|thallus (related)|shoot (related)|シュート系、苗条系 (Japanese, exact) PO_GIT:135 The shoot system is generally used to refer to the above-ground plant parts, although some plants have parts of their shoot system underground. For example, a rhizome (PO:0004542), bulb (PO:0025356), a corm (PO:0025355) or a subterranean tuber (PO:0004547), as in Solanum tuberosum (potato) or yam, are all part of the shoot system. plant_anatomy owl:Class NCBITaxon:36596 biolink:NamedThing Prunus armeniaca tmpaxzxjjyw_mondo_relaxed.owl Armeniaca vulgaris var. glabra|Armeniaca vulgaris var. vulgaris|apricot|Armeniaca vulgaris GC_ID:1 NCBITaxon:262400 ncbi_taxonomy owl:Class NCBITaxon:3754 biolink:NamedThing Prunus tmpaxzxjjyw_mondo_relaxed.owl Prunus subg. Armeniaca|Prunus subg. Amygdalus|Prunus subg. Cerasus GC_ID:1|PMID:24631854 NCBITaxon:140650|NCBITaxon:203800 ncbi_taxonomy owl:Class MONDO:0013781 biolink:NamedThing pseudohypoaldosteronism type 2D Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene. tmpaxzxjjyw_mondo_relaxed.owl pseudohypoaldosteronism, type 2D|PHA2D|pseudohypoaldosteronism, type IID|pseudohypoaldosteronism type 2 caused by mutation in KLHL3|familial hyperkalemic hypertension|KLHL3 pseudohypoaldosteronism type 2 Orphanet:300525|UMLS:C3469605|OMIM:614495|ICD10:I15.1|Orphanet:757 owl:Class MONDO:0020210 biolink:NamedThing syndromic hyperopia A hyperopia that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic hyperopia|syndrome associated with hyperopia Orphanet:98622|UMLS:CN227820 owl:Class MONDO:0004891 biolink:NamedThing hyperopia A refractive error in which rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. It is also called farsightedness because the near point is more distant than it is in emmetropia with an equal amplitude of accommodation. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl hypermetropia|Far-sightedness ICD9:367.0|SCTID:38101003|ICD10:H52.0|DOID:9834|MESH:D006956|UMLS:C0020490 owl:Class UBERON:0000317 biolink:NamedThing colonic mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024477 biolink:NamedThing liver and intrahepatic bile duct neoplasm A benign or malignant neoplasm that affects the liver parenchyma or intrahepatic bile ducts. Representative examples of benign neoplasms include hepatocellular adenoma, and bile duct adenoma. Representative examples of malignant neoplasms include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl liver and intrahepatic bile duct neoplasm|hepatic and intrahepatic bile duct neoplasm NCIT:C7103|UMLS:C1333976 owl:Class UBERON:0001440 biolink:NamedThing forelimb skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004281 biolink:NamedThing vulvar eccrine porocarcinoma An eccrine porocarcinoma that arises from the sweat glands in the vulva. tmpaxzxjjyw_mondo_relaxed.owl vulvar eccrine porocarcinoma|eccrine porocarcinoma of mammalian vulva|mammalian vulva eccrine porocarcinoma NCIT:C40306|DOID:7565|UMLS:C1520081 owl:Class MONDO:0003861 biolink:NamedThing vulvar eccrine adenocarcinoma An eccrine adenocarcinoma that arises from the sweat glands in the vulva. tmpaxzxjjyw_mondo_relaxed.owl vulvar eccrine adenocarcinoma|eccrine carcinoma of mammalian vulva|mammalian vulva eccrine carcinoma UMLS:C2202743|DOID:6339|NCIT:C40305 owl:Class MONDO:0013238 biolink:NamedThing chromosome 17q23.1-q23.2 deletion syndrome 17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. tmpaxzxjjyw_mondo_relaxed.owl monosomy 17q23.1q23.2|17q23.1-q23.2 microdeletion syndrome|Del(17)(q23.1q23.2)|monosomy 17q23.1-q23.2|chromosome 17q23.1-q23.2 deletion syndrome|17q23.1q23.2 microdeletion syndrome OMIM:613355|SCTID:719584008|UMLS:C3150607|GARD:0010936|DOID:0060405|Orphanet:261279|ICD10:Q93.5|UMLS:C4304591 owl:Class UBERON:0014702 biolink:NamedThing frontonasal process epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008917 biolink:NamedThing heart defects-limb shortening syndrome Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome. tmpaxzxjjyw_mondo_relaxed.owl heart defect and limb shortening syndrome|heart defects and limb shortening|cardioskeletal syndrome, KUWAITI type|cardioskeletal syndrome kuwaiti type SCTID:721009008|OMIM:212135|Orphanet:1354|ICD10:Q87.2|UMLS:C1859327|MESH:C535850|GARD:0002613 https://rarediseases.info.nih.gov/diseases/2613/cardioskeletal-syndrome-kuwaiti-type owl:Class HGNC:719 biolink:NamedThing ARSL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019922 biolink:NamedThing paternal uniparental disomy of chromosome 7 Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss). tmpaxzxjjyw_mondo_relaxed.owl UPD(7)pat|paternal uniparental disomy of chromosome type 7 ICD10:Q99.8|SCTID:766721001|Orphanet:96192 owl:Class HGNC:14630 biolink:NamedThing CRELD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03420194 biolink:NamedThing egg or egg component Poultry, game bird or turtle eggs. tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03420164 biolink:NamedThing part of animal Anatomical part of an animal; includes eggs and milk that, although separated from the animal, are produced as integral parts and are affected by the animal's food intake and metabolism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023100 biolink:NamedThing facial clefting corpus callosum agenesis tmpaxzxjjyw_mondo_relaxed.owl GARD:0002220 https://rarediseases.info.nih.gov/diseases/2220/facial-clefting-corpus-callosum-agenesis owl:Class GO:0050966 biolink:NamedThing detection of mechanical stimulus involved in sensory perception of pain The series of events involved in the perception of pain in which a mechanical stimulus is received and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl sensory detection of mechanical stimulus during perception of pain|perception of pain, sensory detection of mechanical stimulus|sensory transduction of mechanical stimulus during perception of pain|perception of pain, detection of mechanical stimulus|perception of pain, sensory transduction of mechanical stimulus|mechanical nociception owl:Class MONDO:0013358 biolink:NamedThing Seckel syndrome 4 Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene. tmpaxzxjjyw_mondo_relaxed.owl Seckel syndrome type 4|Seckel syndrome caused by mutation in CENPJ|SCKL4|CENPJ Seckel syndrome|Seckel syndrome 4 Orphanet:808|UMLS:C3888212|DOID:0070010|OMIM:613676 owl:Class MONDO:0019342 biolink:NamedThing Seckel syndrome A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance. tmpaxzxjjyw_mondo_relaxed.owl bird-headed dwarfism|Seckel-type Dwarfism|SCKL|Virchow-Seckel dwarfism|Harper's syndrome|nanocephalic Dwarfism NCIT:C125488|ICD9:759.89|Orphanet:808|OMIM:615807|OMIM:616051|OMIM:210600|OMIM:616777|OMIM:613823|GARD:0008562|OMIM:600546|OMIM:614851|OMIM:614728|OMIM:613676|ICD10:Q87.1|UMLS:C0265202|SCTID:57917004|OMIM:606744|OMIMPS:210600|OMIM:616171|DOID:0050569 owl:Class MONDO:0014179 biolink:NamedThing inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene. tmpaxzxjjyw_mondo_relaxed.owl inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1|multisystem Proteinopathy 3|IBMPFD3|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3|HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 DOID:0111386|UMLS:C3809469|Orphanet:52430|OMIM:615424 owl:Class MONDO:0000507 biolink:NamedThing inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure. tmpaxzxjjyw_mondo_relaxed.owl IBMPFD|inclusion body myopathy with early-onset Paget disease and frontotemporal dementia|inclusion body myopathy/Paget disease/frontotemporal dementia|pagetoid neuroskeletal syndrome|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia|inclusion body myopathy with Paget's disease of bone and frontotemporal dementia|pagetoid amyotrophic lateral sclerosis|limb-girdle muscular dystrophy with Paget disease of bone DOID:0050881|UMLS:C1833662|OMIM:167320|SCTID:703544004|OMIM:615424|OMIM:615422|GARD:0010899|OMIMPS:167320|Orphanet:52430|ICD10:G71.8 owl:Class ENVO:00000128 biolink:NamedThing dry valley A valley that no longer has a surface flow of water. Typically found in either Karst (limestone) or chalk terrain. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00000100 biolink:NamedThing valley A depression which has been formed as a result of erosion by water or ice and which is low-lying, bordered by higher ground, and especially elongate. tmpaxzxjjyw_mondo_relaxed.owl lavaka|vale|hollow|dale|seachannel|gully|coulee|strath|gulch|glacial gorge|goe|gorge|glen|chasm|moat|water gap|median valley|re-entrant|glacial trough|trench|graben|ravine|shelf valley owl:Class MONDO:0019467 biolink:NamedThing CD4+/CD56+ hematodermic neoplasm An aggressive immature hematologic neoplasm formerly known as blastic NK cell lymphoma, composed of cells with a lymphoblast-like morphology. Recent evidence suggests derivation from a plasmacytoid monocyte. Patients present with cutaneous tumors and bone marrow involvement. tmpaxzxjjyw_mondo_relaxed.owl blastic NK-cell lymphoma|blastic plasmacytoid dendritic cell neoplasm|monomorphic NK-cell lymphoma|agranular CD4+ CD56+ hematodermic neoplasm/tumor|early plasmacytoid Dendritic cell leukemia/lymphoma|blastic plasmacytoid dendritic cell|blastic plasmacytoid Dendritic cell neoplasm|agranular CD4+ natural Killer cell leukemia|blastic natural Killer leukemia/lymphoma|lymphoblastoid variant of NK-cell lymphoma|CD4+/CD56+ hematodermic neoplasm|primary cutaneous CD4+/CD56+ hematolymphoid neoplasm|BPDCN ICDO:9727/3|NCIT:C7203|GARD:0010556|UMLS:C1301363|Orphanet:86870|ICD10:C86.4|SCTID:445105005|UMLS:CN206246|ICD9:202.80|ONCOTREE:BPDCN https://rarediseases.info.nih.gov/diseases/10556/blastic-plasmacytoid-dendritic-cell owl:Class MONDO:0021096 biolink:NamedThing papillary epithelial neoplasm tmpaxzxjjyw_mondo_relaxed.owl papillary epithelial neoplasm UMLS:C1335324|NCIT:C8429 owl:Class MONDO:0012137 biolink:NamedThing Carney complex - trismus - pseudocamptodactyly syndrome Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities). tmpaxzxjjyw_mondo_relaxed.owl Carney complex variant|CARNEY complex variant OMIM:608837|ICD10:Q68.8|Orphanet:319340 owl:Class MONDO:0016432 biolink:NamedThing heart-hand syndrome Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies. tmpaxzxjjyw_mondo_relaxed.owl atriodigital dysplasia ICD10:Q87.2|UMLS:CN201390|UMLS:C0265264|Orphanet:228184 owl:Class UBERON:8000007 biolink:NamedThing right side of back tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001137 biolink:NamedThing dorsum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015037 biolink:NamedThing lissencephaly with cerebellar hypoplasia type D Lissencephaly with cerebellar hypoplasia type D (LCHd) is a form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (at least B1 3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274991|Orphanet:100014|SCTID:715821000|ICD10:Q04.3|UMLS:CN228903 owl:Class MONDO:0019450 biolink:NamedThing lissencephaly with cerebellar hypoplasia Lissencephaly with cerebellar hypoplasia (LCH) is a variant form of lissencephaly and involves a heterogeneous group of cortical malformations without severe congenital microcephaly (>-3 SD). LCH is characterized by cerebellar underdevelopment ranging from vermian hypoplasia to total aplasia with classical or cobblestone lissencephaly. The phenotypic features of LCH include small head circumference (between -2 and -3 standard deviations (SD) forage) at birth and postnatally, moderate to severe intellectual disability, hypotonia and spasticity. Seizures are often observed and infantile spasms have been reported in some rare cases. LCH has been classified into six subgroups according to neuroradiographic properties and are classified LCH type A to F. tmpaxzxjjyw_mondo_relaxed.owl LCH ICD10:Q04.3|Orphanet:86823|SCTID:715817007|UMLS:C4274995 owl:Class GO:0001942 biolink:NamedThing hair follicle development The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0022405 biolink:NamedThing hair cycle process A multicellular organismal process involved in the cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005747 biolink:NamedThing enterovirus infectious disease An disease caused by infection with Enterovirus. tmpaxzxjjyw_mondo_relaxed.owl enterovirus infection|Enterovirus infection|disease caused by enterovirus|Enterovirus infectious disease|disease due to enterovirus|Enterovirus caused disease or disorder|infections, Enterovirus|enterovirus infectious disease|enteroviral infection|Enterovirus disease or disorder|infection, Enterovirus ICD9:079.89|EFO:0007255|SCTID:53648006|UMLS:C0014378|MESH:D004769 owl:Class MONDO:0005914 biolink:NamedThing Picornaviridae infectious disease Virus diseases caused by the picornaviridae. tmpaxzxjjyw_mondo_relaxed.owl infections, Picornaviridae|Picornaviridae infection UMLS:C0031887|EFO:0007438|MESH:D010850 owl:Class MONDO:0016369 biolink:NamedThing Rothmund-Thomson syndrome type 2 Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life. tmpaxzxjjyw_mondo_relaxed.owl poikiloderma of Rothmund-Thomson type 2|RTS2 OMIM:268400|ICD10:Q82.8|Orphanet:221016|UMLS:CN201234 owl:Class MONDO:0003726 biolink:NamedThing apocrine adenosis of breast Breast adenosis characterized by the presence of extensive apocrine metaplasia. tmpaxzxjjyw_mondo_relaxed.owl apocrine adenosis of breast|breast apocrine adenosis|apocrine adenosis of the breast UMLS:C1332314|NCIT:C5198|DOID:5999 owl:Class MONDO:0003724 biolink:NamedThing non-proliferative fibrocystic change of the breast Breast fibrocystic change characterized by the absence of epithelial cell hyperplasia. tmpaxzxjjyw_mondo_relaxed.owl non-proliferative fibrocystic change|breast fibrocystic change, non-proliferative type|non-proliferative fibrocystic change of breast NCIT:C6943|UMLS:C1332628|DOID:5997 owl:Class UBERON:0009521 biolink:NamedThing anal membrane endodermal component tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020156 biolink:NamedThing syndromic ankyloblepharon tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98565|UMLS:CN227801 owl:Class MONDO:0020155 biolink:NamedThing eyelid border anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98564 owl:Class GO:0005981 biolink:NamedThing regulation of glycogen catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen. tmpaxzxjjyw_mondo_relaxed.owl regulation of glycogen degradation|regulation of glycogen breakdown|regulation of glycogenolysis|regulation of glycogen catabolism owl:Class UBERON:0001084 biolink:NamedThing skin of head tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005999 biolink:NamedThing tuberculous empyema An empyema resulting from infection by Mycobacterium tuberculosis. tmpaxzxjjyw_mondo_relaxed.owl tuberculous empyema (& pleural) NCIT:C34575|UMLS:C0014014|SCTID:14527007|EFO:0007528|DOID:14305|MESH:D004654 owl:Class MONDO:0005922 biolink:NamedThing pleural tuberculosis Inflammation of the pleura secondary to an infection with Mycobacterium tuberculosis. tmpaxzxjjyw_mondo_relaxed.owl tuberculous pleuritis|pearly disease|tuberculous pleurisy in primary progressive tuberculosis|tuberculous pleurisy|pleura tuberculosis|tuberculosis of pleura ICD9:010.1|MESH:D014396|DOID:106|ICD10:A15.6|SCTID:186172004|ICD9:012.0|EFO:0007446|ICD9:012.00|ICD9:010.16|ICD9:010.12|NCIT:C26898|ICD9:010.10 owl:Class MONDO:0011819 biolink:NamedThing spinocerebellar ataxia type 19/22 Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor. tmpaxzxjjyw_mondo_relaxed.owl SCA19/22|spinocerebellar ataxia type 19|spinocerebellar ataxia 19 and 22|spinocerebellar ataxia 22|SCA19|spinocerebellar ataxia 19 MESH:C542540|DOID:0050970|Orphanet:98772|ICD10:G11.2|MESH:C537198|SCTID:719251009|OMIM:607346|GARD:0012365 owl:Class CL:0009021 biolink:NamedThing stromal cell of lamina propria of large intestine A stromal cell found in the lamina propria of the large intestine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903060 biolink:NamedThing negative regulation of protein lipidation Any process that stops, prevents or reduces the frequency, rate or extent of protein lipidation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of protein amino acid lipidation|inhibition of lipid:protein modification|negative regulation of protein amino acid lipidation|inhibition of protein lipidation|down regulation of protein lipidation|downregulation of protein lipidation|inhibition of protein amino acid lipidation|down-regulation of protein amino acid lipidation|down regulation of protein amino acid lipidation|down regulation of lipid:protein modification|down-regulation of lipid:protein modification|down-regulation of protein lipidation|negative regulation of lipid:protein modification|downregulation of lipid:protein modification owl:Class MONDO:0008600 biolink:NamedThing trigger thumb A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58). tmpaxzxjjyw_mondo_relaxed.owl bilateral trigger thumb (type)|trigger thumb|congenital trigger thumb (type)|recurrent trigger thumb (type) UMLS:C0158328|OMIM:190410|MESH:D052582|SCTID:42786005|GARD:0008484 https://rarediseases.info.nih.gov/diseases/8484/trigger-thumb owl:Class MONDO:0014369 biolink:NamedThing postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. tmpaxzxjjyw_mondo_relaxed.owl Culler-Jones syndrome|CJS|Pallister-Hall syndrome 2|Pallister-Hall syndrome 2, formerly OMIM:615849|DOID:0080328|GARD:0013349|UMLS:C4014479|Orphanet:420584|ICD10:Q87.8 owl:Class MONDO:0019278 biolink:NamedThing hair anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:79363 owl:Class GO:0005575 biolink:NamedThing cellular_component A location, relative to cellular compartments and structures, occupied by a macromolecular machine when it carries out a molecular function. There are two ways in which the gene ontology describes locations of gene products: (1) relative to cellular structures (e.g., cytoplasmic side of plasma membrane) or compartments (e.g., mitochondrion), and (2) the stable macromolecular complexes of which they are parts (e.g., the ribosome). tmpaxzxjjyw_mondo_relaxed.owl cell or subcellular entity|cellular component|subcellular entity owl:Class GO:0070875 biolink:NamedThing positive regulation of glycogen metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glycogen. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of glycogen metabolism owl:Class ECTO:0000523 biolink:NamedThing exposure to mutagen An exposure to mutagen. tmpaxzxjjyw_mondo_relaxed.owl exposure to mutagen owl:Class MONDO:0004757 biolink:NamedThing chronic ethmoidal sinusitis Inflammation of the ethmoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. tmpaxzxjjyw_mondo_relaxed.owl chronic ethmoid sinusitis|chronic ethmoidal sinusitis|ethmoidal sinusitis - chronic|chronic ethmoiditis|ethmoid sinusitis, chronic ICD9:473.2|DOID:9312|ICD10:J32.2|UMLS:C0008681|SCTID:73237007|NCIT:C34472 owl:Class MONDO:0005756 biolink:NamedThing ethmoid sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the ethmoid sinus. tmpaxzxjjyw_mondo_relaxed.owl ethmoid bone sinusitis|ethmoidal sinusitis|ethmoiditis|sinusitis of ethmoid bone MESH:D015521|NCIT:C34597|UMLS:C0015029|SCTID:18643000|EFO:0007264|DOID:9507|ICD10:J32.2 owl:Class HGNC:6293 biolink:NamedThing KCNN4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005899 biolink:NamedThing parotid disorder A disease involving the parotid gland. tmpaxzxjjyw_mondo_relaxed.owl disease of parotid gland|parotid gland disease|disorder of parotid gland|disease or disorder of parotid gland|parotid gland disease or disorder UMLS:C0030579|DOID:10302|MESH:D010305|EFO:0007422 owl:Class MONDO:0001142 biolink:NamedThing salivary gland disorder A disease involving the saliva-secreting gland. tmpaxzxjjyw_mondo_relaxed.owl saliva-secreting gland disease or disorder|disease or disorder of saliva-secreting gland|salivary gland disorder|saliva-secreting gland disease|disorder of saliva-secreting gland|salivary gland disease|non-neoplastic salivary gland disease|disease of saliva-secreting gland ICD9:527.8|SCTID:10890000|MESH:D012466|NCIT:C26879|EFO:0008581|DOID:10854|ICD9:527.9|UMLS:C0036093 owl:Class GO:0051784 biolink:NamedThing negative regulation of nuclear division Any process that stops, prevents, or reduces the frequency, rate or extent of nuclear division, the partitioning of the nucleus and its genetic information. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of nuclear division|down regulation of nuclear division|downregulation of nuclear division|inhibition of nuclear division owl:Class GO:0006520 biolink:NamedThing cellular amino acid metabolic process The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl amino acid metabolic process|cellular amino acid and derivative metabolic process|cellular amino acid metabolism|amino acid and derivative metabolism owl:Class MONDO:0013316 biolink:NamedThing occult macular dystrophy Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. tmpaxzxjjyw_mondo_relaxed.owl occult macular dystrophy|OMD|OCMD|Omd DOID:0050578|Orphanet:247834|ICD10:H35.5|UMLS:C3150833|OMIM:613587 owl:Class GO:2000282 biolink:NamedThing regulation of cellular amino acid biosynthetic process Any process that modulates the frequency, rate or extent of cellular amino acid biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular amino acid biosynthesis|regulation of cellular amino acid formation|regulation of amino acid biosynthetic process|regulation of cellular amino acid anabolism|regulation of cellular amino acid synthesis owl:Class MONDO:0012118 biolink:NamedThing COG7-CDG COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex. tmpaxzxjjyw_mondo_relaxed.owl CDG-IIe|COG7-CDG (CDG-IIe)|congenital disorder of glycosylation, type IIe|congenital disorder of glycosylation type IIe|carbohydrate deficient glycoprotein syndrome type IIe|CDG IIe|CDG2E|CDG 2E|congenital disorder of glycosylation type 2e|COG7-CDG|CDG syndrome type IIe OMIM:608779|Orphanet:79333|ICD10:E77.8|GARD:0009842|SCTID:717773005|MESH:C535754 owl:Class CHEBI:48219 biolink:NamedThing disinfectant An antimicrobial agent that is applied to non-living objects to destroy harmful microorganisms or to inhibit their activity. tmpaxzxjjyw_mondo_relaxed.owl disinfectants|disinfecting agent|Desinfektionsmittel|desinfectant owl:Class CHEBI:33281 biolink:NamedThing antimicrobial agent A substance that kills or slows the growth of microorganisms, including bacteria, viruses, fungi and protozoans. tmpaxzxjjyw_mondo_relaxed.owl antibiotique|antibiotics|Antibiotikum|antimicrobial|antimicrobials|Antibiotika|antimicrobial agents|microbicides|antibiotic|microbicide owl:Class CHEBI:138015 biolink:NamedThing endocrine disruptor Any compound that can disrupt the functions of the endocrine (hormone) system tmpaxzxjjyw_mondo_relaxed.owl endocrine disruptors|hormonally active agents|endocrine disrupting chemical|endocrine-disrupting chemical|endocrine-disrupting chemicals|endocrine disrupting compound|endocrine disrupting chemicals|hormonally active agent|endocrine disrupting compounds owl:Class MONDO:0011566 biolink:NamedThing abdominal obesity-metabolic syndrome quantitative trait locus 2 tmpaxzxjjyw_mondo_relaxed.owl Aoms2|abdominal obesity-metabolic syndrome quantitative trait locus type 2|abdominal obesity-metabolic syndrome quantitative trait locus 2 OMIM:605572 owl:Class MONDO:0000816 biolink:NamedThing abdominal obesity-metabolic syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930930|OMIMPS:605552|MESH:C535554|DOID:0060611 owl:Class CL:0000007 biolink:NamedThing early embryonic cell (metazoa) A cell found in the embryo before the formation of all the gem layers is complete. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0007617 biolink:NamedThing Coffin-Siris syndrome 1 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B gene. tmpaxzxjjyw_mondo_relaxed.owl CSS1|COFFIN-SIRIS syndrome 1|COFFIN-SIRIS syndrome|MRD12|mental retardation, autosomal dominant 12|intellectual disability, autosomal dominant 12|fifth digit syndrome|hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features|autosomal dominant mental retardation 12|hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features|CSS|Coffin-Siris syndrome 1|mental retardation, autosomal dominant type 12|ARID1B-related BAFopathy OMIM:135900|UMLS:CN029606|UMLS:C3281201|OMIM:614562|UMLS:C1864967|Orphanet:1465|DOID:0070042|UMLS:C0265338|OMIM:609943|MESH:C538391|GARD:0009945 https://rarediseases.info.nih.gov/diseases/9945/hypertrichosis-hyperkeratosis-mental-retardation-and-distinctive-facial-features owl:Class MONDO:0700120 biolink:NamedThing BAFopathy Disorder caused by mutations in the various subunits composing the BAF complex. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/3939 owl:Class MONDO:0010133 biolink:NamedThing thyroid dyshormonogenesis 2A Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase. tmpaxzxjjyw_mondo_relaxed.owl thyroid hormonogenesis, genetic defect in, 2A|thyroid peroxidase deficiency|iodide peroxidase deficiency|TDH2A|hypothyroidism, congenital, due to dyshormonogenesis, 2A|familial thyroid dyshormonogenesis caused by mutation in TPO|TPO familial thyroid dyshormonogenesis|thyroid dyshormonogenesis type 2A|thyroid dyshormonogenesis 2A UMLS:C1291299|SCTID:124204003|Orphanet:95716|ICD9:277.6|NCIT:C121750|OMIM:274500|MESH:C563206 owl:Class MONDO:0010132 biolink:NamedThing familial thyroid dyshormonogenesis A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. tmpaxzxjjyw_mondo_relaxed.owl thyroid dyshormonogenesis|dyshormonogenesis|nongoitrous hyperthyrotropinemia UMLS:C1848805|OMIM:274700|OMIM:274800|NCIT:C121751|Orphanet:95716|SCTID:718183003|ICD10:E03.0|OMIM:274900|OMIM:274500|ICD10:E03.1|OMIM:607200|MESH:C564766|OMIM:274400 https://github.com/monarch-initiative/mondo/issues/642 owl:Class MONDO:0011551 biolink:NamedThing TH-deficient dopa-responsive dystonia Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy. tmpaxzxjjyw_mondo_relaxed.owl Dopa-responsive dystonia, autosomal recessive|autosomal recessive dopa-responsive dystonia|dystonia, DOPA responsive, autosomal recessive|DYT5b|dopa-responsive dystonia, autosomal recessive|dystonia, Dopa-responsive, autosomal recessive|tyrosine hydroxylase-deficient dopa-responsive dystonia|autosomal recessive Segawa syndrome|Parkinsonism, infantile, autosomal recessive|DOPA responsive dystonia, autosomal recessive|Segawa syndrome, autosomal recessive Orphanet:101150|ICD10:G24.1|UMLS:C2673535|SCTID:715827001|OMIM:605407|GARD:0001902 owl:Class MONDO:0100064 biolink:NamedThing tyrosine hydroxylase deficiency Tyrosine hydroxylase (TH) deficiency is an autosomal recessive disorder characterized by a spectrum of phenotypic features, based on severity and response to levodopa. It can be broadly categorized into TH-deficient dopa-responsive dystonia (mild, with dramatic and sustained response to levodopa), TH-deficiency infantile parkinsonism with motor delay (severe, with incomplete response to levodopa), and TH-deficiency infantile encephalopathy (very severe, with little to no response to levodopa). tmpaxzxjjyw_mondo_relaxed.owl tyrosine Hydroxylase deficiency|tyrosine 3-monooxygenase deficiency|tyrosine hydroxylase deficiency|TH deficiency 2018-11-09 23:43:34+00:00 owl:Class MONDO:0018775 biolink:NamedThing axonal hereditary motor and sensory neuropathy tmpaxzxjjyw_mondo_relaxed.owl axonal HMSN Orphanet:476109 owl:Class MONDO:0004114 biolink:NamedThing urinary bladder small cell neuroendocrine carcinoma A highly aggressive carcinoma, histologically resembling small cell lung carcinoma. In most cases it is associated with carcinoma in situ. tmpaxzxjjyw_mondo_relaxed.owl small cell bladder carcinoma|poorly differentiated neuroendocrine carcinoma of the bladder|small cell/neuroendocrine carcinoma of urinary bladder|SCCB|small cell neuroendocrine carcinoma of the urinary bladder|small cell neuroendocrine carcinoma of urinary bladder|small cell bladder cancer|small cell carcinoma of urinary bladder|bladder small cell neuroendocrine carcinoma|bladder small cell neuroendocrine cancer|urinary bladder small cell carcinoma|small cell carcinoma of the urinary bladder|small cell carcinoma of the bladder ICD10:C67.1|GARD:0011923|NCIT:C9461|Orphanet:284400|UMLS:CN202866|EFO:1000129|ICD10:C67.6|ICD10:C67.4|UMLS:C1332564|DOID:7132|ICD10:C67.7|ICD10:C67.3|ICD10:C67.9|ICD10:C67.5|ICD10:C67.8|ICD10:C67.0|ICD10:C67.2|ONCOTREE:SCBC https://rarediseases.info.nih.gov/diseases/11923/small-cell-carcinoma-of-the-bladder owl:Class GO:0046950 biolink:NamedThing cellular ketone body metabolic process The chemical reactions and pathways involving ketone bodies, any one of the three substances: acetoacetate, D-3-hydroxybutyrate (beta-hydroxybutyrate) or acetone, as carried out by individual cells. Although 3-hydroxybutyrate is not a ketone, it is classed as a ketone body because it exists in an equilibrium with acetoacetate. Ketone bodies may accumulate in excessive amounts in the body in starvation, diabetes mellitus or in other defects of carbohydrate metabolism. tmpaxzxjjyw_mondo_relaxed.owl cellular ketone body metabolism owl:Class MONDO:0016779 biolink:NamedThing multiple congenital anomalies due to 14q32.2 maternally expressed gene defect Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoskoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma. tmpaxzxjjyw_mondo_relaxed.owl MCA due to 14q32.2 maternally expressed gene defect OMIM:608149|DOID:0111712|Orphanet:254519 owl:Class CL:2000000 biolink:NamedThing epidermal melanocyte Any melanocyte that is part of a epidermis. tmpaxzxjjyw_mondo_relaxed.owl These cells are found primarily, but not exclusively, in primates including humans TermGenie 2014-02-03T23:03:09Z cell owl:Class CL:0000148 biolink:NamedThing melanocyte A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance. tmpaxzxjjyw_mondo_relaxed.owl melanophore CALOHA:TS-0613|FMA:70545|VHOG:0001679|BTO:0000847 CL:0000572 cell owl:Class MONDO:0016260 biolink:NamedThing uterine corpus rhabdomyosarcoma A rare malignant heterologous neoplasm with skeletal muscle differentiation arising from the uterine corpus. It usually manifests with vaginal bleeding. The prognosis is poor. tmpaxzxjjyw_mondo_relaxed.owl body of uterus rhabdomyosarcoma (disease)|rhabdomyosarcoma of the corpus uteri|uterine corpus rhabdomyosarcoma|rhabdomyosarcoma (disease) of body of uterus|body of uterus rhabdomyosarcoma UMLS:C4288047|ICD10:C54.2|NCIT:C127058|Orphanet:213615 owl:Class MONDO:0005210 biolink:NamedThing uterine corpus sarcoma A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of uterus|sarcoma of corpus uteri|uterine body sarcoma|sarcoma of the corpus uteri|uterine sarcoma|sarcoma of the body of uterus|sarcoma of uterine body|sarcoma of uterine corpus|sarcoma of the uterine body|sarcoma of the uterus|uterine sarcoma/mesenchymal|sarcoma of the uterine corpus|uterus sarcoma|sarcoma of body of uterus|corpus uteri sarcoma|body of uterus sarcoma SCTID:254877001|NCIT:C6339|GARD:0009383|UMLS:C0338113|EFO:0002914|ICD10:C54.2|MedDRA:10039497|ONCOTREE:USARC|DOID:5165|Orphanet:213620 MONDO:0021422 https://rarediseases.info.nih.gov/diseases/9383/uterine-sarcoma owl:Class MONDO:0002770 biolink:NamedThing vaginal discharge Normal or abnormal secretions from the vagina. Mucus produced by the cervical glands is discharged from the vagina naturally, especially during the childbearing years. Causes of abnormal vaginal discharge include infectious agents (e.g., Neisseria gonorrhea, Chlamydia trachomatis, Trichomonas, and Candida albicans), the presence of foreign bodies, and cervical or vaginal cancer. tmpaxzxjjyw_mondo_relaxed.owl Discharge, vaginal DOID:3767|NCIT:C50795|MESH:D019522 owl:Class MONDO:0001433 biolink:NamedThing vaginal disorder A non-neoplastic or neoplastic disorder that affects the vagina. Representative examples include vaginal infection, vaginal polyp, and vaginal squamous cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl disorder of vagina|disease or disorder of vagina|vagina disease or disorder|vaginal disease|disease of vagina|vagina disease|vaginal disorder DOID:121|SCTID:25658005|MESH:D014623|NCIT:C26910|UMLS:C0042251 owl:Class SO:0001026 biolink:NamedThing genome A genome is the sum of genetic material within a cell or virion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0001260 biolink:NamedThing sequence_collection A collection of discontinuous sequences. tmpaxzxjjyw_mondo_relaxed.owl sequence collection owl:Class MONDO:0003938 biolink:NamedThing bladder colonic type adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl bladder enteric type adenocarcinoma|bladder colonic type adenocarcinoma UMLS:C1511188|DOID:6594|NCIT:C39835 owl:Class MONDO:0005932 biolink:NamedThing pseudorabies A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0033839|EFO:0007457|MESH:D011557 owl:Class MONDO:0004943 biolink:NamedThing orbit sarcoma A malignant soft tissue neoplasm that arises from the structures of the orbit. The majority of the cases are rhabdomyosarcomas. tmpaxzxjjyw_mondo_relaxed.owl orbit of skull sarcoma|sarcoma of orbit of skull|orbital sarcoma|sarcoma of orbit|sarcoma of the orbit UMLS:C1335131|NCIT:C6095|DOID:9987|SCTID:699354006 owl:Class MONDO:0015571 biolink:NamedThing deletion 5q35 Deletion 5q35 refers to the different congenital malformation syndromes resulting from deletions of variable extent of the terminal part of the long arm of chromosome 5 (5q), spanning the region from 5q35.1 to 5q35.3 . The most significant anomaly is a recurring deletion in 5q35.2 comprising the NSD1 gene that causes Sotos syndrome that is characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty. Subtelomeric deletions of the terminal 3.5 Mb region on 5q35.3 are very rare, characterized by prenatal lymphedema with increased nuchal translucency, pronounced muscular hypotonia in infancy, borderline intelligence, postnatal short stature due to growth hormone deficiency, and a variety of minor anomalies such as mildly bell-shaped chest, minor congenital heart defects and a distinct facial gestalt. Larger deletions including bands 5q35.1, 5q35.2 and 5q35.3 cause a more severe phenotype that associates severe developmental delay with microcephaly, and significant cardiac defects (e.g. atrial septal defect with/without atrioventricular conduction defects, Ebstein anomaly, tetralogy of Fallot) linked to haploinsufficiency of NKX2.5 (5q35.1). Various combinations of signs may result from deletions of variable extent depending on the genes comprised in the deleted segment. tmpaxzxjjyw_mondo_relaxed.owl deletion type 5q35|Del (5)(q35)|telomeric deletion 5q|distal 5q deletion|Del (5)(qter)|monosomy 5q35 Orphanet:1627|ICD10:Q93.5|SCTID:721158009|MESH:C537647 owl:Class NCIT:C25218 biolink:NamedThing Intervention or Procedure tmpaxzxjjyw_mondo_relaxed.owl Intervention or Procedure owl:Class MONDO:0003730 biolink:NamedThing aleukemic leukemia A leukemia characterized by the absence of leukemic cells in the peripheral blood. tmpaxzxjjyw_mondo_relaxed.owl subleukemic leukemia|aleukemic leukemia|aleukemic myelosis NCIT:C4982|DOID:6004|DOID:12965|ICD9:208.80|UMLS:C0877858|SCTID:302856006 MONDO:0001605 owl:Class MONDO:0003998 biolink:NamedThing vaginal tubular adenoma An adenoma that arises from the vagina and is characterized by a tubular architectural pattern. tmpaxzxjjyw_mondo_relaxed.owl vaginal tubular adenoma UMLS:C1519932|DOID:6809|NCIT:C40257 owl:Class MONDO:0024660 biolink:NamedThing tubular adenoma A usually polypoid neoplasm arising from the glandular epithelium. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. Representative examples include the tubular adenomas of the colon and rectum. tmpaxzxjjyw_mondo_relaxed.owl adenoma, tubular cell, benign|tubular adenoma SCTID:444408007|UMLS:C0334292|NCIT:C4133|ICDO:8211/0 owl:Class MONDO:0003199 biolink:NamedThing anal carcinoma A carcinoma that arises from epithelial cells of the anus tmpaxzxjjyw_mondo_relaxed.owl anal cancer|Ca anus|anus carcinoma|cancer of the anus|cancer of anus|carcinoma of anus|anal carcinoma|carcinoma of the anus MESH:D001005|UMLS:C0279637|SCTID:255084004|NCIT:C9291|SCTID:448315008|DOID:4908 owl:Class MONDO:0014627 biolink:NamedThing dystonia 27 Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene. tmpaxzxjjyw_mondo_relaxed.owl primary dystonia, DYT27 type|dystonia type 27|COL6A3 dystonic disorder|dystonia 27|DYT27|dystonic disorder caused by mutation in COL6A3 UMLS:C4225336|OMIM:616411|ICD10:G24.1|Orphanet:464440|DOID:0090050 owl:Class UBERON:0011136 biolink:NamedThing ligament of vertebral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:26932 biolink:NamedThing tetrapyrrole A natural pigment containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. tmpaxzxjjyw_mondo_relaxed.owl tetrapyrroles|a tetrapyrrole|tetrapyrrole owl:Class MONDO:0001086 biolink:NamedThing partial optic atrophy tmpaxzxjjyw_mondo_relaxed.owl DOID:10631|UMLS:C0155295|ICD9:377.15|SCTID:111527005 owl:Class MONDO:0003608 biolink:NamedThing optic atrophy A disorder characterized by loss of optic nerve fibers. It may be inherited or acquired. Acquired causes include ischemia, optic nerve neuropathy, glaucoma, trauma, radiation, brain tumors, and multiple sclerosis. It leads to vision disturbances. tmpaxzxjjyw_mondo_relaxed.owl atrophy of optic disc Orphanet:98673|SCTID:76976005|UMLS:C0029124|ICD9:377.1|ICD10:H47.20|UMLS:C1744705|DOID:5723|MESH:D009896|NCIT:C34863|ICD10:H47.2|ICD9:377.10 owl:Class UBERON:0002077 biolink:NamedThing cortex of hair tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001851 biolink:NamedThing cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008420 biolink:NamedThing seborrheic keratosis A common benign skin neoplasm usually affecting older individuals. The lesions usually are multiple and arise in the face, chest, and shoulders. They appear as black or brown, slightly elevated skin lesions. tmpaxzxjjyw_mondo_relaxed.owl basal cell papilloma|keratosis Seborrheica|keratosis, seborrheic ICD10:L82.1|UMLS:C0022603|Wikipedia:Seborrheic_keratosis|ICD10:L82|GARD:0003108|SCTID:394727000|DOID:6498|EFO:0005584|MESH:D017492|NCIT:C9006|OMIM:182000|ICD9:702.1 owl:Class MONDO:0007688 biolink:NamedThing Myhre syndrome Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients. tmpaxzxjjyw_mondo_relaxed.owl Myhre syndrome|facial dysmorphism - intellectual deficit - short stature - hearing loss|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome|LAPS syndrome|MYHRS|Growth mental deficiency syndrome of Myhre|Growth-mental deficiency syndrome of Myhre|MYHRE syndrome|laryngotracheal stenosis, arthropathy, prognathism, and short stature MESH:C537620|GARD:0002572|NCIT:C123815|OMIM:139210|ICD9:759.89|UMLS:C0796081|Orphanet:2588|SCTID:699316006|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/2572/myhre-syndrome owl:Class HGNC:25151 biolink:NamedThing ADAT3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017078 biolink:NamedThing cephalocele A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used. tmpaxzxjjyw_mondo_relaxed.owl encephalocele|cephalocele (disease)|cranium bifidum|cephalocele cephalocele (disease) NCIT:C84687|SCTID:55999004|HP:0011815|ICD10:Q01.2|ICD10:Q01.0|Orphanet:268817|ICD9:742.0|ICD10:Q01.1|ICD10:Q01.8|ICD10:Q01.9 owl:Class MONDO:0008082 biolink:NamedThing multiple endocrine neoplasia type 2B Multiple endocrine neoplasia 2B (MEN2B) syndrome is a rare aggressive form of MEN2 characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, mucosal ganglioneuroma, and marfanoid habitus. tmpaxzxjjyw_mondo_relaxed.owl mucosal Neuroma syndrome|multiple endocrine neoplasia type IIB|multiple endocrine neoplasia, type IIB|multiple endocrine neoplasia, type III, formerly|men IIB|men 2B|mucosal neuroma syndrome|multiple endocrine neoplasia type III|multiple endocrine neoplasia, type 3|multiple endocrine neoplasia type 2B|men type 2B|multiple endocrine neoplasia, type III|multiple endocrine neoplasia, type 2B|MEN2B|Neuromata, mucosal, with endocrine tumors|multiple endocrine neoplasia type 3|Wagenmann-Froboese syndrome|men type IIB|multiple endocrine neoplasia, type 3 (formerly)|multiple endocrine adenomatosis type IIB Orphanet:653|ICD10:D44.8|OMIM:162300|ICD9:258.03|Orphanet:247709|SCTID:61530001|ICD9:237.4|UMLS:C0025269|NCIT:C3227|GARD:0010225|ICD10:E31.23|DOID:10016|MedDRA:10056420|MESH:D018814 https://rarediseases.info.nih.gov/diseases/10225/multiple-endocrine-neoplasia-type-2b owl:Class MONDO:0006181 biolink:NamedThing digestive system carcinoma A malignant neoplasm that arises from the epithelium of any part of the digestive system. Representative examples include colorectal carcinoma, esophageal carcinoma, and pancreatic carcinoma. tmpaxzxjjyw_mondo_relaxed.owl digestive system carcinoma|gastrointestinal system carcinoma|gastrointestinal carcinoma (disease)|carcinoma of digestive system|gastrointestinal carcinoma|carcinoma of the gastrointestinal system DOID:0050922|UMLS:C0151544|HP:0002672|EFO:1000218|NCIT:C96963 owl:Class MONDO:0016738 biolink:NamedThing primary germ cell tumor of central nervous system tmpaxzxjjyw_mondo_relaxed.owl primary germ cell tumor of CNS UMLS:CN201986|Orphanet:251995 owl:Class GO:1904539 biolink:NamedThing negative regulation of glycolytic process through fructose-6-phosphate Any process that stops, prevents or reduces the frequency, rate or extent of glycolytic process through fructose-6-phosphate. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of glycolysis through fructose-6-phosphate|inhibition of glycolysis through fructose-6-phosphate|negative regulation of glycolysis through fructose-6-phosphate|down regulation of glycolytic process through fructose-6-phosphate|downregulation of glycolytic process through fructose-6-phosphate|inhibition of glycolytic process through fructose-6-phosphate|downregulation of glycolysis through fructose-6-phosphate|down regulation of glycolysis through fructose-6-phosphate|down-regulation of glycolytic process through fructose-6-phosphate owl:Class GO:0045820 biolink:NamedThing negative regulation of glycolytic process Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis. tmpaxzxjjyw_mondo_relaxed.owl down regulation of glycolysis|inhibition of glycolysis|down-regulation of glycolysis|downregulation of glycolysis owl:Class MONDO:0004843 biolink:NamedThing pathologic nystagmus Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders. tmpaxzxjjyw_mondo_relaxed.owl DOID:9650|ICD10:H55.0|ICD10:H55.00|NCIT:C3282|ICD9:379.50|MESH:D009759|UMLS:C0028738 owl:Class MONDO:0010958 biolink:NamedThing cardiac arrhythmia, ankyrin-B-related tmpaxzxjjyw_mondo_relaxed.owl cardiac arrhythmia, ankyrin-b-related|LQT4|ankyrin-B syndrome|long QT syndrome 4 Orphanet:768|DOID:0111701|SCTID:764457005|OMIM:600919|DOID:0111700|Orphanet:101016|GARD:0010432|UMLS:C1970119 Editor note: we follow OMIM in making LQT4 and ANK2-related cardiac arrhythmia to be equivalent owl:Class MONDO:0012786 biolink:NamedThing juvenile cataract-microcornea-renal glucosuria syndrome Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. tmpaxzxjjyw_mondo_relaxed.owl cataract, juvenile, with microcornea|cataract, juvenile, with microcornea and glucosuria, formerly|cataract 47|cataract, juvenile, with microcornea and glucosuria|juvenile cataract-microcornea-renal glucosuria syndrome|CTRCT47|CJMG MESH:C567434|UMLS:C2677587|OMIM:612018|DOID:0070353|SCTID:722457005|Orphanet:247794 owl:Class GO:0043228 biolink:NamedThing non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. tmpaxzxjjyw_mondo_relaxed.owl non-membrane-enclosed organelle owl:Class GO:0043226 biolink:NamedThing organelle Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012673 biolink:NamedThing colorectal cancer, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl colorectal cancer, susceptibility to, 2|CRCS2|colorectal cancer, susceptibility to, on chromosome 8Q24 OMIM:611469 owl:Class MONDO:0003953 biolink:NamedThing pediatric CNS choriocarcinoma A choriocarcinoma that arises from the central nervous system and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl choriocarcinoma of pediatric CNS|choriocarcinoma of the central nervous system of childhood|choriocarcinoma of childhood CNS|pediatric central nervous system choriocarcinoma|choriocarcinoma of the pediatric CNS|pediatric choriocarcinoma of the central nervous system|choriocarcinoma of the pediatric central nervous system|choriocarcinoma of pediatric central nervous system|childhood central nervous system choriocarcinoma|childhood CNS choriocarcinoma|childhood choriocarcinoma of the central nervous system|choriocarcinoma of childhood central nervous system|choriocarcinoma of the childhood CNS|choriocarcinoma of the childhood central nervous system|Central nervous system choriocarcinoma UMLS:C1377604|DOID:6639|NCIT:C6206 owl:Class MONDO:0054696 biolink:NamedThing immunodeficiency 53 tmpaxzxjjyw_mondo_relaxed.owl IMD53|immunodeficiency 53 UMLS:C4539811|OMIM:617585 owl:Class MONDO:0009360 biolink:NamedThing hydrocephalus, nonsyndromic, autosomal recessive 1 Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene. tmpaxzxjjyw_mondo_relaxed.owl HYC1|congenital hydrocephalus caused by mutation in CCDC88C|hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive type 1|hydrocephalus, nonsyndromic, autosomal recessive 1|ventriculomegaly|CCDC88C congenital hydrocephalus GARD:0006682|UMLS:C3887608|OMIM:236600|Orphanet:2185 owl:Class MONDO:0004718 biolink:NamedThing xeroderma of eyelid tmpaxzxjjyw_mondo_relaxed.owl ICD9:373.33|DOID:9140|UMLS:C0155179|ICD10:H01.14|SCTID:55846006 owl:Class MONDO:0002137 biolink:NamedThing noninfectious dermatoses of eyelid tmpaxzxjjyw_mondo_relaxed.owl non-infected eyelid dermatoses ICD10:H01.1|DOID:1894|ICD9:373.3|UMLS:C0155176|SCTID:111524003 owl:Class MONDO:0017051 biolink:NamedThing classic maple syrup urine disease Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated. tmpaxzxjjyw_mondo_relaxed.owl classic branched-chain 2-ketoacid dehydrogenase deficiency|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic MSUD|classic branched-chain ketoaciduria|classic BCKD deficiency|classic maple syrup urine disease ICD10:E71.0|Orphanet:268145|OMIM:248600 owl:Class UBERON:0005051 biolink:NamedThing mediastinum testis tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:53212 biolink:NamedThing isocyanates Organonitrogen compounds that are derivatives of isocyanic acid; compounds containing the isocyanate functional group -N=C=O (as opposed to the cyanate group, -O-C#N). tmpaxzxjjyw_mondo_relaxed.owl iso-cyanates owl:Class HP:0003560 biolink:NamedThing Muscular dystrophy The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Muscle biopsy shows dystrophic changes SNOMEDCT_US:73297009|MSH:D009136|UMLS:C1864711|UMLS:C0026850|SNOMEDCT_US:193225000 Muscular dystrophy can be demonstrated by muscle biopsy. HP:0003544|HP:0003806 human_phenotype owl:Class HP:0011805 biolink:NamedThing Abnormal skeletal muscle morphology A structural abnormality of a skeletal muscle. tmpaxzxjjyw_mondo_relaxed.owl Abnormally shaped muscle|Abnormal muscle morphology|Issue with muscle structure|Abnormality of muscle morphology UMLS:C4023181 peter 2012-04-25T02:00:34Z HP:0003735 human_phenotype owl:Class MONDO:0032817 biolink:NamedThing neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies tmpaxzxjjyw_mondo_relaxed.owl NDCAGF|NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES OMIM:618571|DOID:0070346 owl:Class MONDO:0002974 biolink:NamedThing cervical cancer A primary or metastatic malignant neoplasm involving the cervix. tmpaxzxjjyw_mondo_relaxed.owl cervix uteri cancer|malignant tumor of cervix|malignant tumor of the uterine cervix|malignant tumor of the cervix|cancer of uterine cervix|tumor of the cervix uteri|uterine cervix cancer|malignant cervical tumor|malignant cervical neoplasm|malignant neoplasm of cervix uteri|malignant tumor of the cervix uteri|malignant tumor of cervix uteri|malignant cervix uteri tumor|malignant neoplasm of the uterine cervix|malignant tumor of uterine cervix|malignant uterine cervix tumor|malignant neoplasm of the cervix uteri|malignant neoplasm of cervix|malignant neoplasm of uterine cervix|malignant cervix uteri neoplasm|uterine cervical neoplasm|cervix cancer|malignant neoplasm of the cervix|cervical neoplasm|malignant cervix tumor|malignant uterine cervix neoplasm|malignant cervix neoplasm UMLS:C0302592|ICD9:180.9|SCTID:363354003|ICD9:180.8|DOID:4362|OMIM:603956|ICD9:180|ICD10:C53.9|NCIT:C9311|NCIT:C2940|ICD10:C53 owl:Class MONDO:0002715 biolink:NamedThing uterine cancer Primary or metastatic malignant neoplasm involving the uterine corpus and/or the cervix. tmpaxzxjjyw_mondo_relaxed.owl cancer of the uterus|malignant neoplasm of the uterus|malignant neoplasm of uterus|malignant uterine neoplasm|malignant uterus neoplasm|uterus neoplasm|malignant tumor of uterus|neoplasm of uterus|uterus cancer|tumour of uterus|malignant tumor of the uterus|cancer of uterus|uterine tumor|malignant uterine tumor|CA - cancer of uterus|uterine cancer ICD10:C55|SCTID:371973000|NCIT:C3552|DOID:363|ICD9:179|SCTID:126908007|MESH:D014594|NCIT:C3435 owl:Class MONDO:0011416 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 1 tmpaxzxjjyw_mondo_relaxed.owl GEFSP1|Gefs+, type 1|generalized epilepsy with febrile seizures plus, type 1 MESH:C565809|UMLS:C1858672|OMIM:604233|Orphanet:36387|DOID:0111302 owl:Class CHEBI:16294 biolink:NamedThing barbituric acid A barbiturate, the structure of which is that of perhydropyrimidine substituted at C-2, -4 and -6 by oxo groups. Barbituric acid is the parent compound of barbiturate drugs, although it is not itself pharmacologically active. tmpaxzxjjyw_mondo_relaxed.owl pyrimidine-2,4,6(1H,3H,5H)-trione|Malonylharnstoff|Malonylurea|2,4,6(1H,3H,5H)-pyrimidinetrione|Barbituric acid|Barbitursaeure owl:Class CHEBI:22693 biolink:NamedThing barbiturates Members of the class of pyrimidones consisting of pyrimidine-2,4,6(1H,3H,5H)-trione (barbituric acid) and its derivatives. Largest group of the synthetic sedative/hypnotics, sharing a characteristic six-membered ring structure. tmpaxzxjjyw_mondo_relaxed.owl barbiturates|barbituric acids owl:Class CHEBI:48975 biolink:NamedThing substituted aniline tmpaxzxjjyw_mondo_relaxed.owl substituted anilines owl:Class CHEBI:22562 biolink:NamedThing anilines Any aromatic amine that is benzene carrying at least one amino substituent and its substituted derivatives. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044999 biolink:NamedThing scalp disorder A disease or disorder that involves the scalp. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of scalp|scalp disease|scalp disease or disorder|disease of scalp|disorder of scalp UMLS:C0406629|SCTID:238922006 owl:Class MONDO:0014347 biolink:NamedThing short stature with microcephaly and distinctive facies tmpaxzxjjyw_mondo_relaxed.owl short stature with microcephaly and distinctive facies UMLS:C4014339|OMIM:615789 owl:Class HP:0032309 biolink:NamedThing Abnormal granulocyte count Any deviation from the normal cell count per volume of granulocytes in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl 2019-02-14 10:54:57+00:00 Granulocytes belong to the innate immune system and make up the largest proportion of white blood cells. They are myeloid cells and can be classified as neutrophil granulocytes (neutrophils), eosinophils, basophils, monocytes, and mast cells. peter human_phenotype owl:Class MONDO:0007845 biolink:NamedThing Kaposi sarcoma, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl Kaposi sarcoma, susceptibility to|multicentric Castleman disease, susceptibility to|susceptibility to Kaposi sarcoma|multiple idiopathic pigmented hemangiosarcoma, susceptibility to OMIM:148000|Orphanet:33276|Orphanet:160 owl:Class MONDO:0007273 biolink:NamedThing paragangliomas 4 Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene. tmpaxzxjjyw_mondo_relaxed.owl paragangliomas type 4|pheochromocytoma, extraadrenal, and cervical paraganglioma|SDHB paraganglioma|carotid body tumors and multiple extraadrenal Pheochromocytomas|paraganglioma caused by mutation in SDHB|pheochromocytoma, familial extraadrenal|paragangliomas, hereditary extraadrenal|PGL4|paragangliomas 4|SDHB-related hereditary paraganglioma-pheochromocytoma syndrome|paraganglioma, familial malignant|pheochromocytoma, extraadrenal and cervical paraganglioma OMIM:115310|UMLS:C1861848|GARD:0010546|Orphanet:29072 https://rarediseases.info.nih.gov/diseases/10546/paragangliomas-4 owl:Class GO:1903303 biolink:NamedThing negative regulation of pyruvate kinase activity Any process that stops, prevents or reduces the frequency, rate or extent of pyruvate kinase activity. tmpaxzxjjyw_mondo_relaxed.owl down regulation of phosphoenolpyruvate kinase activity|negative regulation of ATP:pyruvate 2-O-phosphotransferase activity|negative regulation of phosphoenolpyruvate kinase activity|inhibition of phosphoenolpyruvate kinase activity|down regulation of ATP:pyruvate 2-O-phosphotransferase activity|downregulation of phosphoenolpyruvate kinase activity|downregulation of phosphoenol transphosphorylase activity|inhibition of pyruvate kinase activity|down-regulation of ATP:pyruvate 2-O-phosphotransferase activity|downregulation of pyruvate kinase activity|down-regulation of pyruvate kinase activity|down-regulation of phosphoenol transphosphorylase activity|inhibition of ATP:pyruvate 2-O-phosphotransferase activity|down regulation of phosphoenol transphosphorylase activity|down regulation of pyruvate kinase activity|inhibition of phosphoenol transphosphorylase activity|downregulation of ATP:pyruvate 2-O-phosphotransferase activity|down-regulation of phosphoenolpyruvate kinase activity|negative regulation of phosphoenol transphosphorylase activity owl:Class HP:0032101 biolink:NamedThing Unusual infection A type of infection that is regarded as a sign of a pathological susceptibility to infection. There are five general subtypes. (i) Opportunistic infection, meaning infection by a pathogen that is not normally able to cause infection in a healthy host (e.g., pneumonia by Pneumocystis jirovecii or CMV); (ii) Unusual location (focus) of an infection (e.g., an aspergillus brain abscess); (iii) a protracted course or lack of adequate response to treatment (e.g., chronic rhinosinusitis); (iv) Unusual severity or intensity of an infection; and (v) unusual recurrence of infections. tmpaxzxjjyw_mondo_relaxed.owl 2018-11-04 22:23:03+00:00 peter human_phenotype owl:Class HP:0010978 biolink:NamedThing Abnormality of immune system physiology A functional abnormality of the immune system. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023616 peter 2011-02-07T04:28:55Z human_phenotype owl:Class MONDO:0004569 biolink:NamedThing brachial plexus neuropathy from injury tmpaxzxjjyw_mondo_relaxed.owl brachial plexus lesion|brachial plexus lesions DOID:8443|UMLS:C0006091|ICD9:353.0|SCTID:3548001 owl:Class MONDO:0006683 biolink:NamedThing brachial plexus neuropathy A brachial plexus disorder characterized by regional paresthesia, pain and muscle weakness, and limited movement in the arm or hand. tmpaxzxjjyw_mondo_relaxed.owl brachial plexopathy|brachial plexus disorder|brachial nerve plexus peripheral neuropathy|peripheral neuropathy of brachial nerve plexus ICD9:353.0|DOID:3690|SCTID:3548001|NCIT:C27194|MESH:D020516|ICD10:G54.0|EFO:1000844|UMLS:C0700251 owl:Class GO:0000122 biolink:NamedThing negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. tmpaxzxjjyw_mondo_relaxed.owl downregulation of global transcription from RNA polymerase II promoter|down regulation of global transcription from RNA polymerase II promoter|inhibition of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter, global|down-regulation of global transcription from RNA polymerase II promoter|down-regulation of transcription from RNA polymerase II promoter|down regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|negative regulation of gene-specific transcription from RNA polymerase II promoter|downregulation of transcription from RNA polymerase II promoter|negative regulation of global transcription from Pol II promoter|negative regulation of transcription from Pol II promoter|inhibition of global transcription from RNA polymerase II promoter owl:Class MONDO:0002602 biolink:NamedThing central nervous system disorder A disease involving the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl central nervous system disorder|central nervous system disease|central nervous system disease or disorder|disease or disorder of central nervous system|disease of the central nervous system|disease of central nervous system|central nervous disease|disorder of central nervous system UMLS:C0007682|SCTID:23853001|ICD10:G96.9|MESH:D002493|NCIT:C2934|DOID:331 owl:Class MONDO:0008042 biolink:NamedThing myoclonus and ataxia tmpaxzxjjyw_mondo_relaxed.owl dyssynergia cerebellaris myoclonica|dentatorubral atrophy|Ramsay Hunt syndrome|myoclonus and ataxia|Ramsay Hunt syndrome type 1|primary dentatum atrophy|dentate cerebellar ataxia|progressive myoclonus ataxia|Ramsay Hunt syndrome type 1 (formerly)|dyssynergia cerebellaris progressiva OMIM:159700|GARD:0009256|UMLS:C1834580 Editor note: consider merging into MONDO:0008945 owl:Class UBERON:0006938 biolink:NamedThing pinna surface epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046886 biolink:NamedThing positive regulation of hormone biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of hormone biosynthetic process|positive regulation of hormone formation|up regulation of hormone biosynthetic process|positive regulation of hormone synthesis|upregulation of hormone biosynthetic process|positive regulation of hormone biosynthesis|activation of hormone biosynthetic process|positive regulation of hormone anabolism|stimulation of hormone biosynthetic process owl:Class UBERON:0005997 biolink:NamedThing tricuspid valve anulus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006008 biolink:NamedThing fibrous ring of heart tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004331 biolink:NamedThing bladder urachal adenocarcinoma A adenocarcinoma that involves the urachus. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of the urachus|urachus adenocarcinoma|urachal adenocarcinoma|bladder urachal adenocarcinoma UMLS:C1511204|ONCOTREE:UA|GARD:0010186|NCIT:C39843|MESH:C536474|DOID:7694 owl:Class MONDO:0001378 biolink:NamedThing urachus cancer A malignant neoplasm involving the urachus. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of urachus|malignant urachus neoplasm|cancer of urachus|malignant tumor of urachus|urachus cancer UMLS:C0153615|SCTID:363456000|DOID:11817|ICD9:188.7|ICD10:C67.7 owl:Class MONDO:0004263 biolink:NamedThing pediatric infratentorial ependymoblastoma An embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children. tmpaxzxjjyw_mondo_relaxed.owl childhood infratentorial ependymoblastoma|childhood infratentorial embryonal tumor with Multilayered Rosettes, C19MC-altered|pediatric infratentorial ependymoblastoma UMLS:C1332972|DOID:7522|NCIT:C6773 owl:Class MONDO:0002915 biolink:NamedThing childhood infratentorial neoplasm A neoplasm that affects the infratentorial region of the brain and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric infratentorial neoplasm|infratentorial neoplasm of childhood|childhood infratentorial tumors|childhood infratentorial tumor|pediatric infratentorial tumor|childhood infratentorial neoplasm|childhood infratentorial neoplasms DOID:4207|NCIT:C5802|UMLS:C1332973 owl:Class MONDO:0016030 biolink:NamedThing Evans syndrome Evans syndrome is a rare chronic hematologic disorder characterized by the simultaneous or sequential association of autoimmune hemolytic anemia (AIHA; a disorder in which auto-antibodies are directed against red blood cells causing anemia of varying degrees of severity) with immune thrombocytopenic purpura (ITP; a coagulation disorder in which auto-antibodies are directed against platelets causing hemorrhagic episodes) and occasionally autoimmune neutropenia, in the absence of a known underlying etiology. tmpaxzxjjyw_mondo_relaxed.owl immune pancytopenia|Evan syndrome|autoimmune hemolytic anemia and autoimmune thrombocytopenia|Evans' syndrome DOID:8931|MedDRA:10053873|NCIT:C61284|ICD10:D69.3|UMLS:C0272126|MESH:C536380|ICD9:287.32|ICD10:D69.41|GARD:0006389|SCTID:75331009|Orphanet:1959 https://rarediseases.info.nih.gov/diseases/6389/evans-syndrome owl:Class MONDO:0012239 biolink:NamedThing nemaline myopathy 1 Any nemaline myopathy in which the cause of the disease is a mutation in the TPM3 gene. tmpaxzxjjyw_mondo_relaxed.owl Nem1|nemaline myopathy caused by mutation in TPM3|nemaline myopathy type 1|Cap myopathy 1|TPM3 nemaline myopathy|nemaline myopathy 1|NEM1|nemaline myopathy 1, autosomal dominant or recessive DOID:0110926|Orphanet:607|OMIM:609284|UMLS:C1836448|MESH:C538348|Orphanet:171881 owl:Class MONDO:0000518 biolink:NamedThing sacrum chordoma A chordoma (disease) that involves the fused sacrum. tmpaxzxjjyw_mondo_relaxed.owl fused sacrum chordoma (disease)|chordoma (disease) of fused sacrum SCTID:447730004|UMLS:C3164279|DOID:0050900 owl:Class GO:0046883 biolink:NamedThing regulation of hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of a hormone from a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0023051 biolink:NamedThing regulation of signaling Any process that modulates the frequency, rate or extent of a signaling process. tmpaxzxjjyw_mondo_relaxed.owl regulation of signalling process|regulation of signaling process owl:Class GO:0030857 biolink:NamedThing negative regulation of epithelial cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of epithelial cell differentiation|down regulation of epithelial cell differentiation|downregulation of epithelial cell differentiation|inhibition of epithelial cell differentiation owl:Class GO:0030856 biolink:NamedThing regulation of epithelial cell differentiation Any process that modulates the frequency, rate or extent of epithelial cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009250 biolink:NamedThing glucan biosynthetic process The chemical reactions and pathways resulting in the formation of glucans, polysaccharides consisting only of glucose residues. tmpaxzxjjyw_mondo_relaxed.owl glucan biosynthesis|glucan formation|glucan anabolism|glucan synthesis owl:Class MONDO:0006541 biolink:NamedThing epidermolysis bullosa Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. tmpaxzxjjyw_mondo_relaxed.owl EB|acantholysis bullosa|epidermolysis bullosa DOID:2730|NCIT:C67383|GARD:0006359|ICD10:Q81|Wikipedia:Epidermolysis_bullosa|ICD10:Q81.9|EFO:1000690|SCTID:61003004|MESH:D004820|ICD9:757.39 https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa owl:Class MONDO:0020068 biolink:NamedThing postinfectious encephalitis tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10057235|ICD9:323.6|SCTID:192727001|Orphanet:98253|UMLS:C0393459 owl:Class MONDO:0020067 biolink:NamedThing infectious encephalitis An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi. tmpaxzxjjyw_mondo_relaxed.owl encephalitis infection ICD9:323.4|ICD9:049.8|MESH:D000069544|NCIT:C79550|SCTID:312215006 owl:Class PATO:0000461 biolink:NamedThing normal A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average. tmpaxzxjjyw_mondo_relaxed.owl average owl:Class GO:0034765 biolink:NamedThing regulation of ion transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl regulation of ion membrane transport|regulation of transmembrane ion transport owl:Class MONDO:0016551 biolink:NamedThing congenital primary megaureter, refluxing form tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q62.2|Orphanet:238650 owl:Class MONDO:0014835 biolink:NamedThing striatal degeneration, autosomal dominant 2 Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene. tmpaxzxjjyw_mondo_relaxed.owl striatal Degeneration, autosomal dominant 2|striatal degeneration, autosomal dominant 2; ADSD2|PDE10A striatal degeneration, autosomal dominant|striatal Degeneration, autosomal dominant type 2|striatal degeneration, autosomal dominant caused by mutation in PDE10A|ADSD2 UMLS:C4310791|OMIM:616922 owl:Class MONDO:0000211 biolink:NamedThing striatal degeneration, autosomal dominant An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity. tmpaxzxjjyw_mondo_relaxed.owl ADSD|autosomal dominant striatal neurodegeneration OMIMPS:609161|MESH:C563783|Orphanet:228169|UMLS:C1836694 See genetic heterogeneity of OMIM 609161 smb. owl:Class MONDO:0025425 biolink:NamedThing hepatitis, infectious canine A contagious disease caused by canine adenovirus (adenoviruses, canine) infecting the liver, the eye, the kidney, and other organs in dogs, other canids, and bears. Symptoms include fever; edema; vomiting; and diarrhea. tmpaxzxjjyw_mondo_relaxed.owl infectious Hepatitis, canine|Hepatitis, canine infectious|Hepatitides, canine infectious|infectious Hepatitides, canine|canine Hepatitides, infectious|canine infectious Hepatitis|infectious canine Hepatitis|canine infectious Hepatitides|canine Hepatitis, infectious|infectious canine Hepatitides|Hepatitides, infectious canine MESH:D006522 owl:Class MONDO:0024919 biolink:NamedThing dog disease Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, wolves; foxes; and other Canidae for which the heading carnivora is used. tmpaxzxjjyw_mondo_relaxed.owl diseases, Dog|disease, canine|diseases, canine|canine disease|canine diseases|disease, Dog|dog disease UMLS:C0012979|MESH:D004283 owl:Class MONDO:0009789 biolink:NamedThing nonarteritic anterior ischemic optic neuropathy, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl susceptibility to nonarteritic anterior ischemic optic neuropathy|Naion, susceptibility to|nonarteritic anterior ischemic optic neuropathy, susceptibility to|optic neuropathy, anterior ischemic, susceptibility to OMIM:258660 owl:Class CHEBI:35508 biolink:NamedThing steroid fundamental parent tmpaxzxjjyw_mondo_relaxed.owl steroid fundamental parents owl:Class MONDO:0014205 biolink:NamedThing severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome tmpaxzxjjyw_mondo_relaxed.owl Bainbridge-Roppers syndrome|BAINBRIDGE-ROPERS syndrome|severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome|BRPS Orphanet:352577|UMLS:C3809650|ICD10:Q87.0|OMIM:615485 owl:Class MONDO:0045011 biolink:NamedThing keratinization disease tmpaxzxjjyw_mondo_relaxed.owl disorder of keratinization|keratinization disease UMLS:C0475811|SCTID:277905003 owl:Class UBERON:0003290 biolink:NamedThing meninx of diencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003361 biolink:NamedThing small intestinal sarcoma A malignant soft tissue neoplasm that arises from the small intestine. Representative examples include leiomyosarcoma, angiosarcoma, and Kaposi sarcoma. tmpaxzxjjyw_mondo_relaxed.owl small intestinal sarcoma|sarcoma of small intestine|sarcoma of the small intestine|sarcoma of the small bowel|sarcoma of small bowel|small bowel sarcoma|sarcoma, small intestinal|small intestine sarcoma NCIT:C5335|DOID:5272|UMLS:C1336007 owl:Class MONDO:0001355 biolink:NamedThing ocular siderosis A hemosiderosis that involves the camera-type eye. tmpaxzxjjyw_mondo_relaxed.owl hemosiderosis of camera-type eye|camera-type eye hemosiderosis|siderosis bulbi|siderosis of eye|siderosis of globe DOID:11754|SCTID:25277000|ICD9:360.23|ICD10:H44.32|UMLS:C0271001 owl:Class MONDO:0001436 biolink:NamedThing hemosiderosis Accumulation of iron in internal organs. tmpaxzxjjyw_mondo_relaxed.owl haemosiderosis SCTID:39011001|NCIT:C82892|GARD:0006595|UMLS:C0019114|DOID:12119|MESH:D006486 https://rarediseases.info.nih.gov/diseases/6595/hemosiderosis owl:Class MONDO:0010467 biolink:NamedThing Xq27.3q28 duplication syndrome Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl Xq27.3-q28 microduplication syndrome|trisomy Xq27.3-q28|chromosome Xq27.3-q28 DUPLICATION syndrome|dup(X)(q27.3q28)|trisomy Xq27.3q28 UMLS:C3275521|ICD10:Q99.8|OMIM:300869|Orphanet:261483 owl:Class MONDO:0005114 biolink:NamedThing pneumococcal infection Infections with bacteria of the species streptococcus pneumoniae. tmpaxzxjjyw_mondo_relaxed.owl Streptococcus pneumoniae disease or disorder|Streptococcus pneumoniae infection|pneumoniae infection, Streptococcus|infection, pneumococcal|pneumoniae infections, Streptococcus|pneumococcal infection|Streptococcus pneumoniae infections|infection, Streptococcus pneumoniae|Streptococcus pneumoniae caused disease or disorder|Streptococcus pneumoniae infectious disease|infections, Streptococcus pneumoniae|infections, pneumococcal MESH:D011008|ICD9:041.2|SCTID:16814004|UMLS:C0032269|EFO:0000772 owl:Class ENVO:01000887 biolink:NamedThing area of sedge- and forb-dominated herbaceous vegetation An area of a planet's surface which is primarily covered by sedges or forbs, possibly interpersed with grasses or grass-like plants. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001136 biolink:NamedThing ocean planet A planet which has a surface layer that nearly completely or completely covered by water, and which has a substantial portion of its mass composed of water. tmpaxzxjjyw_mondo_relaxed.owl panthalassic planet|water world|aquaplanet owl:Class ENVO:01000800 biolink:NamedThing planet A planet is an astronomical body orbiting a star or stellar remnant that is massive enough to be rounded by its own gravity, is not massive enough to cause thermonuclear fusion, and has cleared its neighbouring region of planetesimals. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002656 biolink:NamedThing skin carcinoma A carcinoma that arises from epithelial cells of the zone of skin tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the skin|carcinoma of skin|skin carcinoma|nonmelanoma skin cancer|non-melanoma cancer of skin|non-melanoma cancer of the skin|zone of skin carcinoma|skin cancer, non-melanoma|carcinoma of zone of skin|non-melanoma skin cancer DOID:3451|NCIT:C4914|UMLS:C0699893 owl:Class MONDO:0022716 biolink:NamedThing Chiari malformation type 4 tmpaxzxjjyw_mondo_relaxed.owl Chiari malformation type IV|Arnold Chiari malformation type IV|Chiari type IV malformation OMIM:118420|GARD:0009234|SCTID:253187005 https://rarediseases.info.nih.gov/diseases/9234/chiari-malformation-type-4 owl:Class MONDO:0000115 biolink:NamedThing Chiari malformation A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus. tmpaxzxjjyw_mondo_relaxed.owl Arnold-Chiari malformation|(Arnold) Chiari malformation|Chiari malformation SCTID:253184003|MESH:D001139|NCIT:C84570 Nomenclature of OMIM 118420 includes 207950 as another type. owl:Class MONDO:0030971 biolink:NamedThing immunodeficiency 78 with autoimmunity and developmental delay tmpaxzxjjyw_mondo_relaxed.owl IMD78|TPP2 deficiency|immunodeficiency 78 with autoimmunity and developmental delay OMIM:619220 owl:Class CL:0002267 biolink:NamedThing type D cell of stomach A type D cell found in the stomach. tmpaxzxjjyw_mondo_relaxed.owl delta cell of stomach|stomach delta cell|stomach D-cell FMA:83410 tmeehan 2010-09-10T01:36:03Z cell owl:Class CL:0002659 biolink:NamedThing glandular cell of stomach A glandular epithelial cell that is part of the stomach. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-1284|FMA:86554 tmeehan 2011-07-11T01:20:35Z cell owl:Class GO:0050772 biolink:NamedThing positive regulation of axonogenesis Any process that activates or increases the frequency, rate or extent of axonogenesis. tmpaxzxjjyw_mondo_relaxed.owl up regulation of axonogenesis|upregulation of axonogenesis|up-regulation of axonogenesis|activation of axonogenesis|stimulation of axonogenesis owl:Class MONDO:0100294 biolink:NamedThing mitochondrial complex II deficiency, nuclear type 1 Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers. tmpaxzxjjyw_mondo_relaxed.owl isolated mitochondrial respiratory chain complex II deficiency|isolated succinate-coenzyme Q reductase deficiency|mitochondrial complex II deficiency|mitochondrial respiratory chain complex II deficiency|mitochondrial complex II deficiency, nuclear type 1|mitochondrial complex 2 deficiency|isolated succinate-ubiquinone reductase deficiency|isolated succinate-CoQ reductase deficiency|succinate CoQ reductase deficiency|complex 2 mitochondrial respiratory chain deficiency|succinate dehydrogenase deficiency SCTID:124165006|ICD10:G71.3|GARD:0005053|Orphanet:3208|DOID:0060537|ICD9:277.6|OMIM:252011|MESH:C565375 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/5053/mitochondrial-complex-ii-deficiency owl:Class MONDO:0020219 biolink:NamedThing corneogoniodysgenesis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98635 owl:Class ENVO:01001176 biolink:NamedThing environment associated with an aquatic invertebrate An environment which has its properties and composition largely determined by the presence of a metazoan which lacks a vetebral column and which has a habitat that is found in an aquatic environmental system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001002 biolink:NamedThing animal-associated environment An environmental system determined by an animal. tmpaxzxjjyw_mondo_relaxed.owl Metazoan-associated environment|animal environment owl:Class MONDO:0034145 biolink:NamedThing oculocerebrodental syndrome tmpaxzxjjyw_mondo_relaxed.owl oculoskeletodental syndrome|OCSKD|Cataracts, Early-Onset, With Skeletal and Dental Anomalies OMIM:618440|Orphanet:557003 owl:Class NCBITaxon:666 biolink:NamedThing Vibrio cholerae tmpaxzxjjyw_mondo_relaxed.owl Vibrio cholerae-asiaticae|Vibrio cholera|Spirillum cholerae|Bacillo virgola del Koch|Spirillum cholerae-asiaticae|Bacillus cholerae-asiaticae|Kommabacillus|Liquidivibrio cholerae|Vibrio cholerae bv. albensis|Vibrio cholerae biovar albensis|Vibrio albensis|Microspira comma|Bacillus cholerae|Vibrio comma|Pacinia cholerae-asiaticae GC_ID:11|PMID:1015934|PMID:9272984 NCBITaxon:140100|NCBITaxon:376726 ncbi_taxonomy owl:Class NCBITaxon:662 biolink:NamedThing Vibrio tmpaxzxjjyw_mondo_relaxed.owl Listonella|Beneckea|Pacinia|Microspira PMID:7520733|GC_ID:11|PMID:24409173|PMID:4935323|PMID:21057054|PMID:21296930|PMID:17978204|PMID:8590667|PMID:1371064 NCBITaxon:705 ncbi_taxonomy owl:Class CL:0002592 biolink:NamedThing smooth muscle cell of the coronary artery A smooth muscle cell of the coronary artery. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T05:01:34Z cell owl:Class UBERON:0010285 biolink:NamedThing midbrain basal plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018111 biolink:NamedThing idiopathic severe pneumococcemia tmpaxzxjjyw_mondo_relaxed.owl ICD10:A40.3|Orphanet:35065 owl:Class HGNC:17057 biolink:NamedThing CARD8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017026 biolink:NamedThing interstitial lung disease specific to adulthood tmpaxzxjjyw_mondo_relaxed.owl ILD specific to adulthood Orphanet:264735|UMLS:CN202338 owl:Class GO:0060795 biolink:NamedThing cell fate commitment involved in formation of primary germ layer The commitment of cells to specific cell fates of the endoderm, ectoderm, or mesoderm as a part of gastrulation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045165 biolink:NamedThing cell fate commitment The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010918 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl EIG|epilepsy, idiopathic generalized, susceptibility to, 1|EIG1 ICD9:345.10|OMIM:600669|SCTID:36803009 The OMIM entries here are named generically, the same as the PS but it refers to a susceptibility conferred by a specific gene. https://github.com/monarch-initiative/mondo/issues/2543|https://github.com/monarch-initiative/mondo/issues/4147 owl:Class GO:0002637 biolink:NamedThing regulation of immunoglobulin production Any process that modulates the frequency, rate, or extent of immunoglobulin production. tmpaxzxjjyw_mondo_relaxed.owl regulation of antibody production|regulation of immunoglobulin biosynthetic process|regulation of immunoglobulin secretion owl:Class GO:0002700 biolink:NamedThing regulation of production of molecular mediator of immune response Any process that modulates the frequency, rate, or extent of the production of molecular mediator of immune response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009847 biolink:NamedThing pericardial effusion, chronic Chronic form of pericardial effusion (disease). tmpaxzxjjyw_mondo_relaxed.owl chronic pericardial effusion (disease)|pericardial effusion (disease), chronic|cholesterol pericarditis|pericardial effusion, chronic MESH:C564895|UMLS:C1850039|OMIM:260900 owl:Class MONDO:0013066 biolink:NamedThing 46,XY sex reversal 3 tmpaxzxjjyw_mondo_relaxed.owl 46,XY sex reversal 3|46,XY SEX reversal 3|46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure|disorder of Sex development, 46,XY, Nr5A1-related|46,XY Sex reversal type 3|SRXY3|46,XY Sex reversal, partial or complete, Nr5A1-related|Sex reversal, XY, with or without adrenal failure DOID:0111772|OMIM:612965|Orphanet:242|Orphanet:251510|UMLS:C2751824 owl:Class UBERON:0012167 biolink:NamedThing buccal fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006937 biolink:NamedThing regulation of muscle contraction Any process that modulates the frequency, rate or extent of muscle contraction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018490 biolink:NamedThing cono-spondylar dysplasia Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. tmpaxzxjjyw_mondo_relaxed.owl short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome SCTID:766874001|UMLS:CN237491|ICD10:Q77.7|Orphanet:420794 owl:Class MONDO:0015961 biolink:NamedThing genetic head and neck malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:183583 owl:Class MONDO:0011564 biolink:NamedThing cone-rod dystrophy 8 A cone-rod dystrophy that has material basis in variation in the chromosome region 1q12-q24. tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy 8|CORD8|cone-rod dystrophy type 8 MESH:C565322|UMLS:C1854180|OMIM:605549|DOID:0111014 owl:Class MONDO:0020701 biolink:NamedThing brachydactyly type A1A tmpaxzxjjyw_mondo_relaxed.owl BDA1|BRACHYDACTYLY, type A1|Farabee-type Brachydactyly OMIM:112500 owl:Class MONDO:0006514 biolink:NamedThing recalcitrant atopic dermatitis Moderate to severe atopic dermatitis with allergic sensitisation. tmpaxzxjjyw_mondo_relaxed.owl PMID:25935106|EFO:1000651 owl:Class CHEBI:25196 biolink:NamedThing mercury molecular entity tmpaxzxjjyw_mondo_relaxed.owl mercury compounds|mercury molecular entities owl:Class CHEBI:33673 biolink:NamedThing zinc group molecular entity tmpaxzxjjyw_mondo_relaxed.owl zinc group molecular entities owl:Class MONDO:0000602 biolink:NamedThing autoimmune disorder of blood A hypersensitivity reaction type II disease that involves the blood. tmpaxzxjjyw_mondo_relaxed.owl blood autoimmune disease|blood hypersensitivity reaction type II disease DOID:0060050 owl:Class UBERON:0001200 biolink:NamedThing submucosa of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0005390 biolink:NamedThing Recurrent opportunistic infections Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. tmpaxzxjjyw_mondo_relaxed.owl Frequent opportunistic infections UMLS:C1832324 HP:0005426 human_phenotype owl:Class HP:0002719 biolink:NamedThing Recurrent infections Increased susceptibility to infections. tmpaxzxjjyw_mondo_relaxed.owl Susceptibility to infection|Frequent infections|Frequent, severe infections|Increased frequency of infection|Recurrent infections|infections, recurrent|Predisposition to infections UMLS:C0239998 HP:0002964|HP:0002957|HP:0005405 human_phenotype owl:Class GO:0006721 biolink:NamedThing terpenoid metabolic process The chemical reactions and pathways involving terpenoids, any member of a class of compounds characterized by an isoprenoid chemical structure and including derivatives with various functional groups. tmpaxzxjjyw_mondo_relaxed.owl terpenoid metabolism owl:Class MONDO:0016960 biolink:NamedThing partial trisomy of the long arm of chromosome 9 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of the long arm of chromosome type 9|partial duplication of chromosome 9q|partial trisomy of chromosome 9q|partial duplication of the long arm of chromosome 9 Orphanet:262905 owl:Class MONDO:0016930 biolink:NamedThing partial trisomy/tetrasomy of chromosome 9 tmpaxzxjjyw_mondo_relaxed.owl partial duplication/triplication of chromosome 9|partial trisomy/tetrasomy of chromosome type 9 Orphanet:262643 owl:Class HP:0000118 biolink:NamedThing Phenotypic abnormality A phenotypic abnormality. tmpaxzxjjyw_mondo_relaxed.owl Organ abnormality UMLS:C4021819 This is the root of the phenotypic abnormality subontology of the HPO. human_phenotype owl:Class CHEBI:16393 biolink:NamedThing sphingosine A sphing-4-enine in which the double bond is trans. tmpaxzxjjyw_mondo_relaxed.owl (2S,3R)-(E)-2-amino-1,3-dihydroxy-4-octadecene|Sphingosine|(2S,3R,E)-2-aminooctadec-4-ene-1,3-diol|(4E)-sphingenine|D-(+)-erythro-1,3-dihydroxy-2-amino-4-trans-octadecene|(E)-D-erythro-4-octadecene-1,3-diol|sphingosin|Sphingosine d18:1|trans-D-erythro-2-amino-4-octadecene-1,3-diol|Sph|D-erythro-sphingosine|Sphingenine|Sphing-4-enine|2-amino-4-octadecene-1,3-diol|(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-ene-1-ol|(4E)-sphing-4-enine|trans-4-sphingenine|(2S,3R,4E)-2-aminooctadec-4-ene-1,3-diol|C18 sphingosine|Sphingoid|(2S,3R,4E)-2-amino-4-octadecene-1,3-diol|(E)-2-amino-4-octadecan-1,3-diol owl:Class CHEBI:26743 biolink:NamedThing sphing-4-enine A sphingenine in which the C=C double bond is located at the 4-position. tmpaxzxjjyw_mondo_relaxed.owl sphing-4-enine|4-sphingenine|(2S,3R)-2-aminooctadec-4-ene-1,3-diol owl:Class MONDO:0007097 biolink:NamedThing Finnish type amyloidosis tmpaxzxjjyw_mondo_relaxed.owl familial amyloid polyneuropathy type IV|meretoja type amyloidosis|cerebral amyloid angiopathy, Gsn-related|amyloidosis, Finnish type|corneal dystrophy, lattice type 2|familial amyloidosis, Finnish type|gelsolin amyloidosis|amyloidosis, Meretoja type|AGel amyloidosis|meretoja syndrome|lattice corneal dystrophy type II Finnish|hereditary amyloidosis, Finnish type|amyloidosis, MERETOJA type|amyloid cranial neuropathy with lattice corneal dystrophy|hereditary gelsolin amyloidosis|amyloidosis 5|amyloidosis V|amyloidosis due to mutant gelsolin|lattice corneal dystrophy, type 2 ICD9:277.39|DOID:0050637|ICD10:E85.1|GARD:0002339|OMIM:105120|SCTID:419398009|MESH:C537459|Orphanet:85448 owl:Class MONDO:0013301 biolink:NamedThing aromatase deficiency Aromatase deficiency disrupts the synthesis of estradiol, resulting in hirsutism of mothers during gestation of an affected child; pseudohermaphroditism and virilization in women; and tall stature, osteoporosis and obesity in men. tmpaxzxjjyw_mondo_relaxed.owl pseudohermaphroditism, female, due to placental aromatase deficiency|aromatase deficiency|congenital estrogen deficiency NCIT:C120144|MESH:C537436|Orphanet:91|ICD10:E25.8|GARD:0000365|UMLS:C1960539|OMIM:613546 https://rarediseases.info.nih.gov/diseases/365/aromatase-deficiency owl:Class NCBITaxon:12939 biolink:NamedThing Anemia tmpaxzxjjyw_mondo_relaxed.owl Anemia, the fern with tired blood|Mohria GC_ID:1 NCBITaxon:148571 ncbi_taxonomy owl:Class NCBITaxon:693766 biolink:NamedThing Anemiaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011549 biolink:NamedThing hypotrichosis 1 Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene. tmpaxzxjjyw_mondo_relaxed.owl HTS|APCDD1 hypotrichosis|HHS|hypotrichosis type 1|hypotrichosis simplex, generalized, hereditary|HYPT1|hypotrichosis caused by mutation in APCDD1|hereditary generalized hypotrichosis simplex|hypotrichosis 1 UMLS:C1854310|Orphanet:55654|OMIM:605389|DOID:0110698 owl:Class CL:0000995 biolink:NamedThing CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor tmpaxzxjjyw_mondo_relaxed.owl CD71-positive common myeloid precursor OR CD7-negative lymphoid precursor OR CD7-positive lymphoid Originally described in the dendritic cell ontology (DC_CL:1100000)(PMID:19243617). cell owl:Class MONDO:0016814 biolink:NamedThing maternally-inherited Leigh syndrome Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA. tmpaxzxjjyw_mondo_relaxed.owl Leigh disease, maternally inherited|maternally-inherited infantile subacute necrotizing encephalopathy|Subacute necrotizing encephalomyelopathy maternally inherited|MILS|mitochondrial DNA-associated Leigh syndrome|maternally-inherited Leigh disease|maternally inherited Leigh syndrome GARD:0003671|ICD10:G31.8|Orphanet:255210|SCTID:717052002|OMIM:256000|MESH:C536035 owl:Class UBERON:0002513 biolink:NamedThing endochondral bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:8410001 biolink:NamedThing small intestine venule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002046 biolink:NamedThing thyroid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008682 biolink:NamedThing Denys-Drash syndrome Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma. tmpaxzxjjyw_mondo_relaxed.owl Drash syndrome|DDS|Wilms tumor and pseudo- or true hermaphroditism|nephropathy, Wilms tumor, and genital anomalies|nephrotic syndrome type 4|pseudohermaphroditism, nephron disorder and Wilms' tumor|Wilms tumor and pseudohermaphroditism|nephropathy associated with male pseudohermaphroditism and Wilms' tumor|Denys-Drash syndrome|Denys Drash syndrome DOID:3764|Orphanet:220|MESH:D030321|OMIM:194080|GARD:0005576|MedDRA:10070179|UMLS:C0950121|SCTID:236385009|ICD10:N04.1|UMLS:C3151568|NCIT:C84668|ICD9:189.0 owl:Class MONDO:0000600 biolink:NamedThing nosophobia A specific phobia that involves an irrational fear of contracting a disease. tmpaxzxjjyw_mondo_relaxed.owl EFO:1001903|DOID:0060048 owl:Class MONDO:0008338 biolink:NamedThing contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A tmpaxzxjjyw_mondo_relaxed.owl pterygium syndrome, multiple, autosomal dominant|multiple pterygium syndrome, autosomal dominant|distal arthrogryposis type 8|DA8|arthrogryposis, distal, type 8 Orphanet:65743|OMIM:178110|GARD:0013058|UMLS:C1867440|ICD10:Q79.8|MESH:C566739 https://rarediseases.info.nih.gov/diseases/13058/autosomal-dominant-multiple-pterygium-syndrome owl:Class MONDO:0002883 biolink:NamedThing intestinal neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the small or large intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine neoplasm of the intestine|intestine neuroendocrine tumor|intestinal neuroendocrine benign tumor|intestine neuroendocrine neoplasm|intestinal neuroendocrine neoplasm|intestine NET|neuroendocrine tumor of intestine|intestine neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of intestine NCIT:C5695|DOID:4119|UMLS:C1334231 owl:Class CHEBI:32877 biolink:NamedThing primary amine A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group. tmpaxzxjjyw_mondo_relaxed.owl Primary monoamine|RCH2NH2|primaeres Amin|primary amines|R-NH2|Primary amine owl:Class CHEBI:50994 biolink:NamedThing primary amino compound A compound formally derived from ammonia by replacing one hydrogen atom by an organyl group. tmpaxzxjjyw_mondo_relaxed.owl primary amino compounds owl:Class NCBITaxon:8022 biolink:NamedThing Oncorhynchus mykiss tmpaxzxjjyw_mondo_relaxed.owl Oncorhynchus nerka mykiss|rainbow trout|Salmo mykiss|Parasalmo mykiss GC_ID:1 NCBITaxon:1311475 ncbi_taxonomy owl:Class MONDO:0009315 biolink:NamedThing congenital factor XII deficiency Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions. tmpaxzxjjyw_mondo_relaxed.owl F12 deficiency|factor 12 deficiency|congenital factor XII deficiency|coagulation factor 12 deficiency|Haf deficiency|factor XII deficiency|deficiency, Hageman|congenital Hageman factor deficiency|factor XII deficiency disease|Hageman Factor deficiency ICD9:286.3|NCIT:C131740|SCTID:46981006|MESH:D005175|Orphanet:330|UMLS:C0015526|GARD:0006558|DOID:2231|ICD10:D68.2|OMIM:234000 https://rarediseases.info.nih.gov/diseases/6558/factor-xii-deficiency owl:Class UBERON:0003640 biolink:NamedThing pedal digit 1 phalanx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002861 biolink:NamedThing testis sarcoma A sarcoma that arises from the testis. The majority of cases arise from teratomas or spermatocytic seminomas. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of testis|testicular sarcoma|testis sarcoma|sarcoma of the testis UMLS:C1336727|DOID:4062|NCIT:C6359 owl:Class MONDO:0009660 biolink:NamedThing mucopolysaccharidosis type 4B A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature. tmpaxzxjjyw_mondo_relaxed.owl MPS 4B|mucopolysaccharidosis type IVB|MPSIVB|mucopolysaccharidosis, type IVB|mucopolysaccharidosis, type 4B|MPS IVB|Morquio disease type B|Morquio syndrome B|MPS IV B|Beta-D-galactosidase deficiency|MPS4B SCTID:238044004|Orphanet:582|NCIT:C84902|OMIM:253010|ICD10:E76.2|GARD:0003786|DOID:0111392|Orphanet:309310|UMLS:C0086652 owl:Class MONDO:0018938 biolink:NamedThing mucopolysaccharidosis type 4 Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterised by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B. tmpaxzxjjyw_mondo_relaxed.owl mucopolysaccharidosis, MPS-IV-A|deficiency of N-acetylgalactosamine-6-sulphatase|mucopolysaccharidosis IV|galactosamine-6-sulfatase deficiency|MPS4|Morquio syndrome A|mucopolysaccharidosis type IVA|mucopolysaccharidosis type IV|mucopolysaccharidosis type IVB|mucopolysaccharidosis type 4|chondroosteodystrophy|MPS IV - Morquio syndrome A|Morquio syndrome|MPS IV - Morquio syndrome B|Osteochondrodystrophy|deficiency of chondroitinsulphatase|Morquio A disease|MPSIV|mucopolysaccharidosis, MPS-IV|Morquio disease OMIM:253000|NCIT:C61263|SCTID:7259005|SCTID:378007|ICD10:E76.219|Orphanet:582|UMLS:C0026707|OMIM:253010|ICD10:E76.2|MedDRA:10028095|DOID:12804|GARD:0012562|NCIT:C84901|OMIM:252300|ICD10:E76.210 owl:Class MONDO:0002972 biolink:NamedThing posterior mediastinum cancer A malignant neoplasm involving the posterior mediastinum. tmpaxzxjjyw_mondo_relaxed.owl posterior mediastinum cancer|cancer of posterior mediastinum|malignant neoplasm of posterior mediastinum|malignant posterior mediastinum neoplasm UMLS:C0153502|ICD9:164.3|DOID:436|ICD10:C38.2|SCTID:448670003 owl:Class MONDO:0002869 biolink:NamedThing heart valve disorder A disease involving the cardial valve. tmpaxzxjjyw_mondo_relaxed.owl disease of cardial valve|disease or disorder of cardial valve|heart valve disorder|cardial valve disease|valvular heart disorder|disorder of heart valve|cardial valve disease or disorder|valvular heart disease|disorder of cardial valve UMLS:C0018824|ICD9:424.99|NCIT:C45525|MESH:D006349|SCTID:368009|DOID:4079 owl:Class MONDO:0021856 biolink:NamedThing Alsing syndrome An autosomal recessive, oculo-reno-skeletal syndrome characterized by bilateral atypical macular coloboma, familial juvenile nephronophthisis and mesomelic skeletal dysplasia of upper limbs with bilateral radiohumeral fusion. tmpaxzxjjyw_mondo_relaxed.owl atypical macular coloboma, familial juvenile nephronophthisis and skeletal abnormality GARD:0009213|UMLS:C2931255|MESH:C536588 https://rarediseases.info.nih.gov/diseases/9213/alsing-syndrome owl:Class MONDO:0001476 biolink:NamedThing coloboma An abnormality in which a part of a structure in one or both eyes is missing. tmpaxzxjjyw_mondo_relaxed.owl coloboma of eye|ocular coloboma|congenital ocular coloboma|coloboma of the eye|coloboma of macula MESH:D003103|SCTID:93390002|OMIM:120300|ICD9:743.49|Orphanet:98945|NCIT:C98877|DOID:12270|OMIM:120200|OMIM:216820|ICD10:Q13.0|Orphanet:194 owl:Class MONDO:0018999 biolink:NamedThing LCAT deficiency LCAT (lecithin-cholesterol acyltransferase) deficiency is a rare lipoprotein metabolism disorder characterized clinically by corneal opacities, and sometimes renal failure and hemolytic anemia, and biochemically by severely reduced HDL cholesterol. tmpaxzxjjyw_mondo_relaxed.owl lecithin-cholesterol acyltransferase deficiency ICD10:E78.6|Orphanet:650|SCTID:49227001|OMIM:136120|OMIM:245900 owl:Class MONDO:0017773 biolink:NamedThing hypoalphalipoproteinemia A metabolic disorder characterized by deficiency of high density (alpha) lipoprotein in the blood. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0473527|SCTID:190785000|MESH:D052456|MedDRA:10065156|Orphanet:31153|ICD10:E78.6|NCIT:C84774 owl:Class MONDO:0012227 biolink:NamedThing myopia 7 tmpaxzxjjyw_mondo_relaxed.owl MYP7|myopia 7 UMLS:C1836506|MESH:C563761|OMIM:609256 owl:Class MONDO:0011752 biolink:NamedThing nephronophthisis 4 Any nephronophthisis in which the cause of the disease is a mutation in the NPHP4 gene. tmpaxzxjjyw_mondo_relaxed.owl nephronophthisis (disease) caused by mutation in NPHP4|nephronophthisis 4|NPHP4|nephronophthisis 4, juvenile|nephronophthisis type 4|NPHP4 nephronophthisis (disease)|juvenile nephronophthisis 4 Orphanet:655|SCTID:446989009|UMLS:C2959367|UMLS:C1847013|MESH:C564640|OMIM:606966|DOID:0111115 owl:Class MONDO:0014898 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene. tmpaxzxjjyw_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3|progressive external ophthalmoplegia, autosomal recessive 3|autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2|TK2 autosomal recessive progressive external ophthalmoplegia|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3|PEOB3 OMIM:617069|DOID:0111523|UMLS:C4310734 owl:Class MONDO:0016810 biolink:NamedThing autosomal recessive progressive external ophthalmoplegia Autosomal recessive form of progressive external ophthalmoplegia. tmpaxzxjjyw_mondo_relaxed.owl arPEO|progressive external ophthalmoplegia, autosomal recessive OMIM:617069|Orphanet:254886|ICD10:H49.4|MESH:C564926|OMIM:258450 owl:Class HGNC:6572 biolink:NamedThing LGI1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020228 biolink:NamedThing cataract associated with a metabolic disease tmpaxzxjjyw_mondo_relaxed.owl metabolic disease with cataract 2022-03-01 Orphanet:98644|UMLS:CN207056 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic cataract' MONDO_0020225 owl:Class MONDO:0006346 biolink:NamedThing pancreatic acinar cell carcinoma An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis. tmpaxzxjjyw_mondo_relaxed.owl acinar cell carcinoma of pancreas|pancreatic acinar cell carcinoma|acinar cell adenocarcinoma of pancreas|acinar cell adenocarcinoma of the pancreas|PAAC|pancreatic acinar cell adenocarcinoma|acinar cell carcinoma of the pancreas|carcinoma of pancreatic acinar cell|pancreas acinar cell adenocarcinoma|Pancreatic acinar cell cancer ONCOTREE:PAAC|Orphanet:424046|ICD10:C25.8|EFO:1000439|ICD10:C25.2|UMLS:C0279661|ICD10:C25.1|ICD10:C25.7|NCIT:C7977|ICD10:C25.0|DOID:5742 owl:Class MONDO:0006047 biolink:NamedThing pancreatic adenocarcinoma A carcinoma that arises from glandular epithelial cells of the pancreas tmpaxzxjjyw_mondo_relaxed.owl PAAD|adenocarcinoma of the pancreas|adenocarcinoma - pancreas|adenocarcinoma of pancreas|pancreatic adenocarcinoma|pancreas adenocarcinoma DOID:4074|SCTID:700423003|ONCOTREE:PAAD|EFO:1000044|UMLS:C0281361|NCIT:C8294 owl:Class GO:0051347 biolink:NamedThing positive regulation of transferase activity Any process that activates or increases the frequency, rate or extent of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. tmpaxzxjjyw_mondo_relaxed.owl upregulation of transferase activity|stimulation of transferase activity|activation of transferase activity|up regulation of transferase activity|up-regulation of transferase activity|transferase activator owl:Class MONDO:0023227 biolink:NamedThing gestational diabetes insipidus A form of diabetes insipidus that manifests during pregnancy (or in some cases, after pregnancy). It is characterized by theappearance of a polyuric-polydipsic syndrome that resultsin fluid intake ranging from 3 to 20 L/day. It is also charac-terized by excretion of abnormally high volumes of dilutedurine. This polyuria is insipid, i.e., the urine concentrationof dissolved substances is very low. tmpaxzxjjyw_mondo_relaxed.owl diabetes insipidus gestational|Gestagenic diabetes insipidus GARD:0010702|MESH:C548014|UMLS:C2932666 https://rarediseases.info.nih.gov/diseases/10702/gestational-diabetes-insipidus owl:Class NCBITaxon:783 biolink:NamedThing Rickettsia rickettsii tmpaxzxjjyw_mondo_relaxed.owl Dermacentroxenus rickettsii GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:114277 biolink:NamedThing spotted fever group tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:9734038 ncbi_taxonomy owl:Class CL:0000637 biolink:NamedThing chromophil cell of anterior pituitary gland A cell that stains readily in the anterior pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl FMA:83089 cell owl:Class HP:0001321 biolink:NamedThing Cerebellar hypoplasia Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. tmpaxzxjjyw_mondo_relaxed.owl Small cerebellum|Congenital cerebellar hypoplasia|Hypoplasia of cerebellum|Hypoplastic cerebellum|Underdeveloped cerebellum SNOMEDCT_US:16026008|MSH:C562568|UMLS:C0266470 By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments. HP:0007053|HP:0007038|HP:0006910|HP:0006806 human_phenotype owl:Class MONDO:0013161 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2O Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia. tmpaxzxjjyw_mondo_relaxed.owl LGMD2O|autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1|POMGNT1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related|limb-girdle muscular dystrophy type 2O|muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related|LGMD-POMGNT1 related|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3|MDDGC3|muscular dystrophy, limb-girdle, type 2O|muscular dystrophy-dystroglycanopathy (limb-girdle) type C3 OMIM:613157|ICD10:G71.0|GARD:0012540|UMLS:C3150417|Orphanet:206564|DOID:0110292 owl:Class GO:0008373 biolink:NamedThing sialyltransferase activity Catalysis of the transfer of sialic acid to an acceptor molecule, typically the terminal portions of the sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016757 biolink:NamedThing glycosyltransferase activity Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor). tmpaxzxjjyw_mondo_relaxed.owl transglycosylase activity|transferase activity, transferring glycosyl groups|transferase activity, transferring other glycosyl groups|transglycosidase activity owl:Class MONDO:0012336 biolink:NamedThing cataract 22 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBB3 gene. tmpaxzxjjyw_mondo_relaxed.owl early-onset non-syndromic cataract caused by mutation in CRYBB3|CATCN2|cataract, congenital nuclear, autosomal recessive 2|CRYBB3 early-onset non-syndromic cataract|autosomal recessive congenital nuclear cataract 2|cataract 22, multiple types|CTRCT22 MESH:C565725|OMIM:609741|Orphanet:98991|DOID:0110268|Orphanet:91492|UMLS:C1857853|ICD10:Q12.0|Orphanet:98988 owl:Class HP:0030962 biolink:NamedThing Abnormal morphology of the great vessels A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. tmpaxzxjjyw_mondo_relaxed.owl 2017-04-18 13:00:44+00:00 robinp human_phenotype owl:Class MONDO:0700089 biolink:NamedThing paroxysmal nonkinesigenic dyskinesia 1 Paroxysmal nonkinesigenic dyskinesia in which the cause of the disease is a mutation in the PNKD gene. tmpaxzxjjyw_mondo_relaxed.owl paroxysmal dyskinesia caused by mutation in PNKD|mount-reback syndrome|PNKD1|PxMD-PNKD|PNKD paroxysmal dyskinesia|dystonia 8|paroxysmal dystonic choreoathetosis|paroxysmal nonkinesigenic dyskinesia type 1|paroxysmal nonkinesigenic dyskinesia 1|choreoathetosis, familial paroxysmal|choreoathetosis, nonkinesigenic ICD10:G24.8|DOID:0090049|OMIM:611147|MedDRA:10065657|OMIM:118800|MedDRA:10065658|GARD:0008722|Orphanet:98810 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0015427 biolink:NamedThing paroxysmal dyskinesia Paroxysmal dyskinesia (PD) is a rare heterogenous group of movement disorders manifesting as abnormal involuntary movements that recur episodically and last only a brief time. PD includes paroxysmal kinesigenic dyskinesia (PKD), paroxysmal non-kinesigenic dyskinesia (PNKD), paroxysmal exertion-induced dyskinesia (PED) and a variant form of PKD, infantile convulsion and choreoathetosis (ICCA syndrome). tmpaxzxjjyw_mondo_relaxed.owl paroxysmal choreoathetosis|paroxysmal dystonic choreoathetosis SCTID:49949003|ICD10:G24.8|Orphanet:1431|ICD9:333.5 owl:Class UBERON:0002060 biolink:NamedThing femoral artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016175 biolink:NamedThing cutis laxa Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant and sagging inelastic skin associated with skeletal and developmental anomalies and, in some cases, with severe systemic involvement. Several different forms of inherited CL have been described, differentiated on the basis of the mode of inheritance and differences in the extent of internal organ involvement, associated anomalies and disease severity. tmpaxzxjjyw_mondo_relaxed.owl loose skin|elastolysis|cutis laxa|generalized elastolysis GARD:0006227|UMLS:C0010495|MedDRA:10011692|NCIT:C84663|SCTID:58588007|DOID:3144|Orphanet:209|MESH:D003483|ICD10:Q82.8 https://rarediseases.info.nih.gov/diseases/6227/cutis-laxa owl:Class MONDO:0002168 biolink:NamedThing rectum sarcoma A malignant soft tissue neoplasm that arises from the rectum. Representative examples include angiosarcoma, Kaposi sarcoma, and leiomyosarcoma. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of rectum|rectum sarcoma|sarcoma of the rectum|rectal sarcoma NCIT:C5548|UMLS:C1335688|DOID:1995 owl:Class MONDO:0060781 biolink:NamedThing Preeyasombat-Varavithya syndrome tmpaxzxjjyw_mondo_relaxed.owl Fanconi syndrome caused by degraded tetracycline MESH:C535269|UMLS:C2930859 owl:Class MONDO:0013665 biolink:NamedThing epilepsy, juvenile myoclonic, susceptibility to, 9 tmpaxzxjjyw_mondo_relaxed.owl epilepsy, juvenile myoclonic, susceptibility to, 9|EJM9 OMIM:614280|DOID:0111328|Orphanet:307 owl:Class MONDO:0009696 biolink:NamedThing juvenile myoclonic epilepsy Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases). tmpaxzxjjyw_mondo_relaxed.owl juvenile myoclonus epilepsy|myoclonic epilepsy, juvenile, 1|petit mal, impulsive|myoclonic epilepsy, juvenile, susceptibility to, 1|JME|myoclonic epilepsy, juvenile|epilepsy, myoclonic juvenile|EJM|Janz syndrome MESH:D020190|OMIM:614280|DOID:4890|OMIMPS:254770|OMIM:611364|SCTID:6204001|OMIM:613060|ICD9:345.10|OMIM:607628|OMIM:611136|OMIM:607682|MedDRA:10071082|NCIT:C84796|EFO:0006572|Orphanet:307|OMIM:608816|GARD:0006808|ICD10:G40.3|UMLS:C0270853|OMIM:604827 https://rarediseases.info.nih.gov/diseases/6808/juvenile-myoclonic-epilepsy owl:Class MONDO:0009212 biolink:NamedThing congenital factor X deficiency Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms. tmpaxzxjjyw_mondo_relaxed.owl hereditary Factor X deficiency|Stuart-Prower Factor deficiency|Stuart-Prower factor deficiency|disease, Stuart-Prower|factor X deficiency|congenital Stuart factor deficiency|F10 deficiency|Stuart factor deficiency, congenital|factor X deficiency, congenital|congenital factor X deficiency|factor 10 deficiency ICD10:D68.2|ICD9:286.3|Orphanet:328|DOID:2222|SCTID:37350004|MESH:D005171|NCIT:C98940|OMIM:227600|GARD:0006404 owl:Class MONDO:0019692 biolink:NamedThing multiple epiphyseal dysplasia and pseudoachondroplasia tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q78.8|Orphanet:93429 owl:Class MONDO:0015012 biolink:NamedThing mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders tmpaxzxjjyw_mondo_relaxed.owl mucopolysaccharidosis-plus syndrome|MPSPS|mucopolysaccharidosis-like plus disease Orphanet:505248|OMIM:617303|UMLS:C4310627 owl:Class CL:1001578 biolink:NamedThing vagina squamous cell Squamous cell of vaginal epithelium. tmpaxzxjjyw_mondo_relaxed.owl vaginal squamous epithelial cell|vagina squamous epithelial cell|vagina squamous epithelial cells|vaginal squamous cell CALOHA:TS-1254 owl:Class CL:0000076 biolink:NamedThing squamous epithelial cell tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-1249 cell owl:Class MONDO:0016872 biolink:NamedThing partial deletion of chromosome 7 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 7|partial deletion of chromosome type 7 ICD10:Q93.5|Orphanet:261796 owl:Class NCBITaxon:27592 biolink:NamedThing Bovinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9895 biolink:NamedThing Bovidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019742 biolink:NamedThing late-onset nephronophthisis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93589|ICD10:Q61.5 owl:Class MONDO:0014054 biolink:NamedThing lymphoproliferative syndrome 2 Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene. tmpaxzxjjyw_mondo_relaxed.owl lymphoproliferative syndrome 2|LPFS2|lymphoproliferative syndrome caused by mutation in CD27|CD27 lymphoproliferative syndrome|lymphoproliferative syndrome type 2 Orphanet:238505|ICD10:D47.9|DOID:0060708|OMIM:615122|UMLS:C3554540 owl:Class MONDO:0016537 biolink:NamedThing lymphoproliferative syndrome A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis). tmpaxzxjjyw_mondo_relaxed.owl lymphoproliferative disorder NCIT:C9308|UMLS:CN201619|DOID:0060704|SCTID:277466009|Orphanet:238510|OMIMPS:308240|MESH:D008232 owl:Class CHEBI:28479 biolink:NamedThing D-tyrosine An optically active form of tyrosine having D-configuration. tmpaxzxjjyw_mondo_relaxed.owl D-TYROSINE|(R)-3-(p-Hydroxyphenyl)alanine|DTY|D-Tyr|(R)-2-Amino-3-(p-hydroxyphenyl)propionic acid|(2R)-2-amino-3-(4-hydroxyphenyl)propanoic acid|D-Tyrosine|D-tyrosine|D-Tyrosin owl:Class CHEBI:16733 biolink:NamedThing D-alpha-amino acid tmpaxzxjjyw_mondo_relaxed.owl D-alpha-amino acids|D-alpha-amino acid|D-Amino acid owl:Class HGNC:5391 biolink:NamedThing IDUA tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002890 biolink:NamedThing negative regulation of immunoglobulin mediated immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of an immunoglobulin mediated immune response. tmpaxzxjjyw_mondo_relaxed.owl down regulation of immunoglobulin mediated immune response|downregulation of immunoglobulin mediated immune response|down-regulation of immunoglobulin mediated immune response|inhibition of immunoglobulin mediated immune response owl:Class MONDO:0016941 biolink:NamedThing partial duplication of the short arm of chromosome 4 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome 4p|partial trisomy of the short arm of chromosome 4|partial duplication of chromosome 4p|partial duplication of the short arm of chromosome type 4 Orphanet:262716 owl:Class UBERON:0003860 biolink:NamedThing hindlimb mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005220 biolink:NamedThing collecting duct carcinoma A carcinoma that arises from epithelial cells of the collecting duct of renal tubule tmpaxzxjjyw_mondo_relaxed.owl collecting duct carcinoma|kidney collecting duct carcinoma|collecting duct renal cancer|carcinoma of collecting duct of renal tubule|cDC|carcinoma of the renal collecting duct|carcinoma of the collecting ducts of Bellini|Bellini duct carcinoma|carcinoma of kidney collecting duct|BDC|collecting duct renal cell carcinoma|renal carcinoma, collecting duct type|Bellini carcinoma|renal medullary carcinoma|renal collecting duct carcinoma|carcinoma of the kidney collecting duct|carcinoma of renal collecting duct|Bellini’s duct carcinoma|collecting duct carcinoma of the kidney|collecting duct of renal tubule carcinoma|carcinoma of collecting ducts of Bellini NCIT:C6194|EFO:0003016|ICD10:C64|GARD:0009573|MESH:D002292|Orphanet:247203|ICDO:8319/3|DOID:4464|ONCOTREE:CDRCC|UMLS:C1266044 owl:Class GO:0072350 biolink:NamedThing tricarboxylic acid metabolic process The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing three carboxyl (COOH) groups or anions (COO-). tmpaxzxjjyw_mondo_relaxed.owl tricarboxylic acid metabolism owl:Class MONDO:0032776 biolink:NamedThing hearing loss, autosomal recessive 99 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 99|DFNB99 OMIM:618481|DOID:0111634 owl:Class CHEBI:36820 biolink:NamedThing ring assembly Two or more cyclic systems (single rings or fused systems) which are directly joined to each other by double or single bonds are named ring assemblies when the number of such direct ring junctions is one less than the number of cyclic systems involved. tmpaxzxjjyw_mondo_relaxed.owl ring assembly|ring assemblies owl:Class HGNC:21253 biolink:NamedThing LHFPL5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000026 biolink:NamedThing regulation of multicellular organismal development Any process that modulates the frequency, rate or extent of multicellular organismal development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017095 biolink:NamedThing isolated focal cortical dysplasia type I tmpaxzxjjyw_mondo_relaxed.owl FCD type I ICD10:Q04.8|Orphanet:268961|UMLS:CN202452 owl:Class MONDO:0019728 biolink:NamedThing heavy chain deposition disease tmpaxzxjjyw_mondo_relaxed.owl HCDD UMLS:CN206635|NCIT:C7339|UMLS:C1333947|ICD10:D89.8|Orphanet:93556 owl:Class UBERON:0036244 biolink:NamedThing secretion of serous membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005989 biolink:NamedThing toxoplasmosis A parasitic disease contracted by the ingestion or fetal transmission of toxoplasma gondii. tmpaxzxjjyw_mondo_relaxed.owl Toxoplasma gondii infectious disease|Toxoplasma gondii caused disease or disorder|Toxoplasma gondii disease or disorder|disseminated toxoplasmosis UMLS:C0040558|ICD9:130.9|MESH:D014123|EFO:0007517|SCTID:187192000|NCIT:C3418|DOID:9965|ICD9:130.7|ICD9:130|ICD10:B58|ICD10:B58.9 owl:Class MONDO:0005707 biolink:NamedThing coccidiosis A parasitic infection caused by Coccidia. It affects livestock, birds and humans. In humans the parasite infests the intestinal tract and may cause watery diarrhea, abdominal pain, fever, nausea and vomiting. tmpaxzxjjyw_mondo_relaxed.owl coccidiosis (& [intestinal])|intestinal coccidiosis NCIT:C34493|ICD9:007.2|SCTID:62005008|MESH:D003048|UMLS:C0009187|DOID:2113|EFO:0007212 owl:Class MONDO:0023682 biolink:NamedThing tympanic paraganglioma A benign or malignant middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss. tmpaxzxjjyw_mondo_relaxed.owl Glomus Tympanicum Tumors|tympanic paraganglioma|Glomus tympanicum tumor|Glomus Tympanicum Tumor|Tympanic Paraganglioma|Tympanic paraganglioma|Tumor, Glomus Tympanicum|Glomus tympanicum paraganglioma|Tumors, Glomus Tympanicum MESH:D043604|GTR:AN0102048|NCIT:C8428|UMLS:C0474820|SCTID:253031000|GTR:AN0102047 owl:Class MONDO:0037940 biolink:NamedThing inherited auditory system disease An instance of auditory system disease that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl auditory system hereditary disorder|inherited auditory system disease|hereditary auditory system disease SCTID:362991006|UMLS:C1285174 owl:Class GO:1902571 biolink:NamedThing regulation of serine-type peptidase activity Any process that modulates the frequency, rate or extent of serine-type peptidase activity. tmpaxzxjjyw_mondo_relaxed.owl regulation of serine protease activity owl:Class MONDO:0004882 biolink:NamedThing angioid streaks of choroid A angioid streaks that involves the optic choroid. tmpaxzxjjyw_mondo_relaxed.owl angioid streaks of optic choroid|optic choroid angioid streaks DOID:979|UMLS:C0002983|SCTID:86103006|ICD9:363.43 owl:Class MONDO:0011438 biolink:NamedThing acne An inflammatory process of the sebaceous glands which is characterized by comedones, nodules, papules and/or pustules on the skin. tmpaxzxjjyw_mondo_relaxed.owl acne vulgaris|acne, ADULT|acne|frontalis acne|acne varioliformis|acne (disease) acne (disease) NCIT:C27195|ICD10:L70|HP:0001061|ICD9:706.0|OMIM:604324|ICD10:L70.2|EFO:0003894|MTH:217|DOID:6543|ICD10:L70.9 owl:Class MONDO:0006607 biolink:NamedThing sebaceous gland disorder A disease involving the sebaceous gland. tmpaxzxjjyw_mondo_relaxed.owl disease of sebaceous glands|disease of sebaceous gland|sebaceous gland disease or disorder|sebaceous gland disease|disease or disorder of sebaceous gland|disorder of sebaceous gland DOID:9098|SCTID:3441005|MESH:D012625|ICD9:706.1|UMLS:C0036502|EFO:1000763|ICD10:L70.8 owl:Class MONDO:0000342 biolink:NamedThing O'nyong'nyong fever An disease or disorder caused by infection with O'nyong-nyong virus. tmpaxzxjjyw_mondo_relaxed.owl O'nyong-nyong virus infectious disease|O'nyong-nyong virus caused disease or disorder|O'nyong-nyong virus disease or disorder UMLS:C0276286|DOID:0050516|ICD10:A92.1|MEDGEN:547234|SCTID:85579005 owl:Class GO:1903508 biolink:NamedThing positive regulation of nucleic acid-templated transcription Any process that activates or increases the frequency, rate or extent of nucleic acid-templated transcription. tmpaxzxjjyw_mondo_relaxed.owl up regulation of nucleic acid-templated transcription|activation of nucleic acid-templated transcription|upregulation of nucleic acid-templated transcription|up-regulation of nucleic acid-templated transcription owl:Class GO:1902680 biolink:NamedThing positive regulation of RNA biosynthetic process Any process that activates or increases the frequency, rate or extent of RNA biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of RNA biosynthesis|upregulation of RNA formation|activation of RNA formation|up-regulation of RNA synthesis|activation of RNA anabolism|positive regulation of RNA biosynthesis|up regulation of RNA anabolism|activation of RNA synthesis|up regulation of RNA formation|upregulation of RNA anabolism|upregulation of RNA synthesis|upregulation of RNA biosynthesis|up-regulation of RNA anabolism|activation of RNA biosynthesis|positive regulation of RNA anabolism|up-regulation of RNA formation|up-regulation of RNA biosynthetic process|upregulation of RNA biosynthetic process|up regulation of RNA biosynthetic process|activation of RNA biosynthetic process|positive regulation of RNA formation|positive regulation of RNA synthesis|up regulation of RNA biosynthesis|up regulation of RNA synthesis owl:Class MONDO:0020724 biolink:NamedThing cerebral cavernous malformation 1 tmpaxzxjjyw_mondo_relaxed.owl cavernous angiomatous malformations|cerebral capillary malformations|cerebral cavernous malformation 1|familial cerebral cavernous malformation 1|cerebral cavernous malformations|hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations|cavernous angioma, familial|cerebral cavernous malformations 1|CCM|cavernous malformations of CNS and retina Orphanet:221061|DOID:0080491|OMIM:116860 owl:Class MONDO:0032615 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 9 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9|MC1DN9 OMIM:618232 owl:Class MONDO:0100321 biolink:NamedThing viral disease or post-viral disorder A viral infectious disease that result from the presence and activity of a viral agent, or a disorder that follows infection with an viral agent but is distinct from the usual manifestations of the infection itself. tmpaxzxjjyw_mondo_relaxed.owl viral infectious disease or sequela http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0700121 biolink:NamedThing ACTL6A-related BAFopathy Any BAFopathy in which the cause of the disease is a mutation in the ACTL6A gene. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020103 biolink:NamedThing constitutional hemolytic anemia due to acanthocytosis tmpaxzxjjyw_mondo_relaxed.owl constitutional hemolytic anemia due to acanthocytic disorder 2022-03-01 Orphanet:98366|ICD10:E78.6 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemolytic anemia' MONDO_0003664 owl:Class MONDO:0003664 biolink:NamedThing hemolytic anemia Anemia resulting from the premature destruction of the peripheral blood red cells. It may be congenital or it may be caused by infections, medications, or malignancies. tmpaxzxjjyw_mondo_relaxed.owl anemia hemolytic|anemia, hemolytic|hemolytic anemia SCTID:61261009|DOID:583|MESH:D000743|OMIM:266120|NCIT:C34376|EFO:0005558|OMIM:612631|ICD10:D55.D59|ICD10:D55-D59 owl:Class MONDO:0018894 biolink:NamedThing distal hereditary motor neuropathy tmpaxzxjjyw_mondo_relaxed.owl dHMN|distal spinal muscular atrophy|dSMA GARD:0012683|Orphanet:53739|SCTID:230247001 https://rarediseases.info.nih.gov/diseases/12683/distal-hereditary-motor-neuropathy owl:Class UBERON:0035495 biolink:NamedThing hilum of lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004885 biolink:NamedThing hilum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004554 biolink:NamedThing childhood kidney angiomyolipoma An angiomyolipoma occurring in childhood. tmpaxzxjjyw_mondo_relaxed.owl kidney angiomyolipoma of childhood|pediatric renal angiomyolipoma|pediatric kidney angiomyolipoma|childhood renal angiomyolipoma DOID:8410|NCIT:C6565|UMLS:C1333000 owl:Class MONDO:0002730 biolink:NamedThing childhood kidney neoplasm A kidney neoplasm that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood kidney neoplasm|childhood kidney tumor|pediatric kidney neoplasm|kidney neoplasm of childhood|pediatric kidney tumor|pediatric renal neoplasm|childhood renal neoplasm|kidney neoplasm|pediatric renal tumor|childhood renal tumor NCIT:C6563|UMLS:C1333003|DOID:3675 owl:Class MONDO:0043275 biolink:NamedThing TORCH syndrome A syndrome that results from a group of infections that affect the fetus or the newborn. The group of infections includes Toxoplasma gondii, rubella, cytomegalovirus, herpes simplex virus, and other infections. The other infections include varicella-zoster virus, hepatitis B virus, human immunodeficiency virus, parvovirus B19, and syphilis. Signs and symptoms include fever, feeding difficulties, petechial rash, jaundice, hepatosplenomegaly, chorioretinitis, and microcephaly. tmpaxzxjjyw_mondo_relaxed.owl torch syndrome|TORCH infection|toxoplasmosis, Other infections, Rubella, Cytomegalovirus, and Herpes simplex Virus (TORCH) syndrome|toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus syndrome|TORCH syndrome|toxoplasmosis, other infections, rubella, cytomegalovirus, and herpes simplex virus (torch) syndrome|Toxoplasma, rubella, cytomegalovirus and herpes simplex mixed infection GARD:0007781|UMLS:C0270173|NCIT:C98609|SCTID:41679006 owl:Class MONDO:0003067 biolink:NamedThing cervical lymphadenitis Inflammation of the cervical lymph nodes. tmpaxzxjjyw_mondo_relaxed.owl cervical adenitis|lymphadenitis (disease) of neck|neck lymphadenitis (disease) DOID:4637|SCTID:3502005|NCIT:C26937|UMLS:C0149642 owl:Class CL:0002083 biolink:NamedThing type I cell of adrenal medulla A chromaffin cell of the adrenal medulla that produces norepinephrine. tmpaxzxjjyw_mondo_relaxed.owl noradrenergic chromaffin cell FMA:69321 tmeehan 2010-07-14T10:12:24Z cell owl:Class CL:0000336 biolink:NamedThing adrenal medulla chromaffin cell A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation. tmpaxzxjjyw_mondo_relaxed.owl medullary chromaffin cell of adrenal gland FMA:69262 CL:1000422 cell owl:Class MONDO:0004689 biolink:NamedThing inborn metal metabolism disorder An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. tmpaxzxjjyw_mondo_relaxed.owl metal metabolism disorder|metal metabolism, inborn error DOID:896|UMLS:C0025534|MESH:D008664 owl:Class CHEBI:17891 biolink:NamedThing donor A molecular entity that can transfer ("donate") an electron, a pair of electrons, an atom or a group to another molecular entity. tmpaxzxjjyw_mondo_relaxed.owl donneur|Donor|Donator owl:Class MONDO:0011678 biolink:NamedThing homozygous 11P15-p14 deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl homozygous 11P15-p14 deletion syndrome|hyperinsulinism, infantile, with enteropathy and deafness MESH:C564701|UMLS:C1847866|OMIM:606528 owl:Class MONDO:0016893 biolink:NamedThing partial deletion of the short arm of chromosome 11 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 11p|partial deletion of chromosome 11p|partial deletion of the short arm of chromosome type 11|partial monosomy of the short arm of chromosome 11 ICD10:Q93.5|Orphanet:261947 owl:Class MONDO:0005629 biolink:NamedThing Acanthamoeba keratitis Keratitis due to infection by acanthamoeba; it is usually associated with soft contact lens wear, particularly overnight wear. tmpaxzxjjyw_mondo_relaxed.owl Acanthamoeba caused keratitis|keratitis, Acanthamoeba NCIT:C50450|SCTID:231896005|ICD10:B60.1+|MedDRA:10069408|Orphanet:67043|EFO:0007126|MESH:D015823|ICD10:H19.2*|UMLS:C0000880|GARD:0009285|ICD9:370.8 https://rarediseases.info.nih.gov/diseases/9285/acanthamoeba-keratitis owl:Class MONDO:0024315 biolink:NamedThing parasitic endophthalmitis Infection of the epicondyles by a parasite. tmpaxzxjjyw_mondo_relaxed.owl parasitic endophthalmitis SCTID:57100005|UMLS:C0014238|ICD9:360.13|NCIT:C34587 owl:Class MONDO:0006932 biolink:NamedThing pulmonary edema Accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. It is caused by direct injury to the lung parenchyma or congestive heart failure. The symptoms may appear suddenly or gradually. Suddenly appearing symptoms include difficulty breathing, feeling of suffocation, and coughing associated with frothy sputum. Gradually appearing symptoms include difficulty breathing while lying in bed, shortness of breath during activity, and weight gain (in patients with congestive heart failure). tmpaxzxjjyw_mondo_relaxed.owl edema, pulmonary EFO:1001134|NCIT:C26868|MESH:D011654|MedDRA:10037375|UMLS:C0034063|ICD10:J81.1|DOID:11396|SCTID:19242006|ICD10:J81 owl:Class MONDO:0001208 biolink:NamedThing acute respiratory failure Life-threatening respiratory failure that develops rapidly. Causes include injury, sepsis, drug overdose, and pancreatitis. It manifests with dyspnea and cyanosis and may lead to cardiovascular shock. tmpaxzxjjyw_mondo_relaxed.owl acute respiratory failure|respiratory failure, acute NCIT:C27043|SCTID:65710008|ICD9:518.81|UMLS:C0264490 owl:Class NCBITaxon:5763 biolink:NamedThing Naegleria fowleri tmpaxzxjjyw_mondo_relaxed.owl brain-eating amoeba GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5761 biolink:NamedThing Naegleria tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002008 biolink:NamedThing labyrinthitis Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication. tmpaxzxjjyw_mondo_relaxed.owl internal ear inflammation|inflammation of internal ear|otitis interna|inner ear infection NCIT:C128369|SCTID:23919004|ICD10:H83.0|DOID:3930|ICD9:386.30|ICD9:386.3|MESH:D007762|UMLS:C0022893|ICD10:H83.09|DOID:1468 Note that DO has distinct classes for both labyrinthitis and otitis interna. These are generally regarded as synonyms. We intentionally make these two classes equivalent. However, the DO class may potentially represent the infectious form, although the sub/superclass relationships are inverted if this is the case. owl:Class UBERON:0007794 biolink:NamedThing secretion of serous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050727 biolink:NamedThing regulation of inflammatory response Any process that modulates the frequency, rate or extent of the inflammatory response, the immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903650 biolink:NamedThing negative regulation of cytoplasmic transport Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic transport. tmpaxzxjjyw_mondo_relaxed.owl down regulation of cytoplasmic transport|down-regulation of cytoplasmic transport|inhibition of cytoplasmic streaming|inhibition of cytoplasmic transport|down-regulation of cytoplasmic streaming|negative regulation of cytoplasmic streaming|down regulation of cytoplasmic streaming|downregulation of cytoplasmic transport|downregulation of cytoplasmic streaming owl:Class MONDO:0008269 biolink:NamedThing polydactyly of a biphalangeal thumb Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left. tmpaxzxjjyw_mondo_relaxed.owl preaxial polydactyly type 1|PPD1|polydactyly, preaxial I|polydactyly preaxial 1|Fromont anomaly|thenar hypoplasia|preaxial polydactyly 1|polydactyly, preaxial 1|thumb polydactyly|polydactyly, preaxial type 1 ICD10:Q69.1|SCTID:445216006|MESH:C536332|GARD:0004417|Orphanet:93339|OMIM:174400 owl:Class MONDO:0017425 biolink:NamedThing preaxial polydactyly of fingers Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity. tmpaxzxjjyw_mondo_relaxed.owl preaxial polydactyly of hand OMIMPS:174400|Orphanet:294939|GARD:0012767|ICD10:Q69.1 https://rarediseases.info.nih.gov/diseases/12767/preaxial-polydactyly-of-fingers owl:Class NCBITaxon:43816 biolink:NamedThing Anophelinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008942 biolink:NamedThing cerebelloparenchymal disorder II tmpaxzxjjyw_mondo_relaxed.owl CPD, late-onset recessive type|cerebelloparenchymal disorder II|CPD2 UMLS:C1859299|OMIM:213100|MESH:C565866 owl:Class MONDO:0000114 biolink:NamedThing cerebelloparenchymal disorder tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010056 biolink:NamedThing future tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4387 biolink:NamedThing GNAI3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001691 biolink:NamedThing laryngeal cartilage cancer A malignant neoplasm involving the laryngeal cartilage. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of laryngeal cartilage|cancer of laryngeal cartilage|malignant laryngeal cartilage neoplasm|malignant tumor of laryngeal cartilage|laryngeal cartilage cancer|malignant neoplasm of laryngeal cartilages DOID:13348|ICD10:C32.3|SCTID:363431006|UMLS:C0153486|ICD9:161.3 owl:Class OBO:CHR_9606-chr15q13 biolink:NamedThing 15q13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 33400000 27800000 hg38 owl:Class CL:0000681 biolink:NamedThing radial glial cell A cell present in the developing CNS. Functions as both a precursor cell and as a scaffold to support neuronal migration. tmpaxzxjjyw_mondo_relaxed.owl forebrain radial glial cell Unlike that of mammals, the brain of adult teleost fish exhibits an intense and widespread neurogenic activity as a result of the persistence of radial glial cells acting as neural progenitors throughout life. cell owl:Class CL:0002036 biolink:NamedThing Slamf1-positive multipotent progenitor cell A hematopoietic progenitor that has some limited self-renewal capability. Cells are lin-negative, Kit-positive, CD34-positive, and Slamf1-positive. tmpaxzxjjyw_mondo_relaxed.owl KSL cell Markers are associated with mouse cells. tmeehan 2010-01-08T11:16:35Z cell owl:Class UBERON:8410004 biolink:NamedThing small intestine arteriole tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001980 biolink:NamedThing arteriole tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001275 biolink:NamedThing pubis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010214 biolink:NamedThing xeroderma pigmentosum variant type Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer. tmpaxzxjjyw_mondo_relaxed.owl xeroderma pigmentosum variant type|xeroderma pigmentosum, variant type|xeroderma pigmentosum with normal DNA repair rates|photosensitivity with defective DNA synthesis|xeroderma pigmentosum variant|XPV GARD:0005630|DOID:0110847|MESH:C536766|UMLS:C1848410|NCIT:C141367|Orphanet:90342|OMIM:278750|ICD10:Q82.1|Orphanet:910 https://rarediseases.info.nih.gov/diseases/5630/xeroderma-pigmentosum-variant-type owl:Class UBERON:0003947 biolink:NamedThing brain ventricle/choroid plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011533 biolink:NamedThing temtamy preaxial brachydactyly syndrome An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene. tmpaxzxjjyw_mondo_relaxed.owl TPBS|preaxial brachydactyly syndrome, Temtamy type|preaxial brachydactyly syndrome, TEMTAMY type|mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies|TEMTAMY preaxial brachydactyly syndrome|temtamy preaxial brachydactyly syndrome|intellectual disability syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies ICD10:Q87.2|MESH:C536958|Orphanet:363417|OMIM:605282|DOID:0050814|UMLS:C1854466|GARD:0009679 https://rarediseases.info.nih.gov/diseases/9679/temtamy-preaxial-brachydactyly-syndrome owl:Class UBERON:0002925 biolink:NamedThing trigeminal nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006789 biolink:NamedThing hyperamylasemia Abnormally high level of amylase in the blood. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10062777|NCIT:C113755|MESH:D034321|EFO:1000969 owl:Class GO:1901532 biolink:NamedThing regulation of hematopoietic progenitor cell differentiation Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl regulation of haematopoietic progenitor cell differentiation|regulation of hemopoietic progenitor cell differentiation|regulation of haemopoietic progenitor cell differentiation owl:Class GO:0045759 biolink:NamedThing negative regulation of action potential Any process that stops, prevents, or reduces the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of action potential|down regulation of action potential|downregulation of action potential|inhibition of action potential owl:Class GO:0098900 biolink:NamedThing regulation of action potential Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001752 biolink:NamedThing alveolar periostitis A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed) tmpaxzxjjyw_mondo_relaxed.owl extrinsic allergic alveolitis of jaw skeleton|jaw skeleton extrinsic allergic alveolitis|dry socket|alveolitis of jaw|dry tooth socket UMLS:C0013240|ICD9:526.5|MESH:D004368|SCTID:61804006|ICD10:M27.3|DOID:13585 owl:Class UBERON:0006063 biolink:NamedThing cartilaginous neural arch tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXp22.13-p22.2 biolink:NamedThing Xp22.13-p22.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class GO:0010970 biolink:NamedThing transport along microtubule The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. tmpaxzxjjyw_mondo_relaxed.owl microtubule-based transport|movement along microtubule|establishment of localization by movement along microtubule owl:Class GO:0030705 biolink:NamedThing cytoskeleton-dependent intracellular transport The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003638 biolink:NamedThing lung meningioma A primary or metastatic meningioma that is present in the lung. The lung is the most frequent site of metastasis of meningiomas. tmpaxzxjjyw_mondo_relaxed.owl lung meningioma (disease)|primary pulmonary meningioma|lung primary meningioma|lung meningioma|meningioma of the lung|meningioma of lung|pulmonary meningioma|meningioma (disease) of lung DOID:5764|UMLS:C1334450|NCIT:C5668 owl:Class CHEBI:33709 biolink:NamedThing amino acid A carboxylic acid containing one or more amino groups. tmpaxzxjjyw_mondo_relaxed.owl amino acids|Aminosaeure|Aminocarbonsaeure|Aminokarbonsaeure owl:Class MONDO:0021377 biolink:NamedThing hypertrophic lichen planus A form of lichen planus that is characterized by plaques of markedly thickened skin that is often extremely pruritic and localized to the lower legs. It can result in permanent pigmentation and scarring. tmpaxzxjjyw_mondo_relaxed.owl Hypertrophic lichen planus|hypertrophic lichen planus|Hypertrophic Lichen Planus|lichen planus hypertrophicus|Lichen planus hypertrophicus UMLS:C0023649|SCTID:68266006|NCIT:C34779 owl:Class GO:0031224 biolink:NamedThing intrinsic component of membrane The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. tmpaxzxjjyw_mondo_relaxed.owl intrinsic to membrane owl:Class CHEBI:139588 biolink:NamedThing alpha-hydroxy ketone An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety. tmpaxzxjjyw_mondo_relaxed.owl alpha-hydroxy-ketone|alpha-hydroxyketone|alpha-hydroxy ketones|alpha-hydroxyketones|alpha-hydroxy-ketones owl:Class CHEBI:52396 biolink:NamedThing alpha-oxyketone An oxyketone with the general formula R2C(=O) (R=/=H) where one or more of the R groups contains an oxy (-O-) group and the oxy and carbonyl groups are bonded to the same carbon atom. tmpaxzxjjyw_mondo_relaxed.owl alpha-oxyketones owl:Class MONDO:0003314 biolink:NamedThing endometrioid stromal and related neoplasms of the vagina A category of rare neoplasms that arise from the vagina. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma. tmpaxzxjjyw_mondo_relaxed.owl endometrioid stromal and related tumors of the vagina|endometrioid stromal and related neoplasms of vagina|vaginal endometrial stromal tumor|endometrioid stromal and related neoplasms of the vagina|vagina endometrioid stromal and related neoplasms DOID:5171|NCIT:C40269|UMLS:C4289585 owl:Class MONDO:0019694 biolink:NamedThing spondylodysplastic dysplasia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93434 owl:Class HGNC:20407 biolink:NamedThing CALR3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017123 biolink:NamedThing arthrogryposis-renal dysfunction-cholestasis syndrome Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis multiplex congenita, renal dysfunction, and cholestasis|ARC syndrome|arthrogryposis-renal dysfunction-cholestasis|arthrogryposis - renal dysfunction - cholestasis|arthrogryposis renal dysfunction cholestasis syndrome|arthrogryposis, renal dysfunction, and cholestasis|arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome OMIM:613404|MESH:C535382|Orphanet:2697|OMIM:208085|GARD:0000794|OMIMPS:208085|SCTID:720513002|ICD10:Q89.7|DOID:0050763 owl:Class MONDO:0019199 biolink:NamedThing interstitial granulomatous dermatitis with arthritis Interstitial granulomatous dermatitis with arthritis is a rare rheumatologic disease characterized by the occurrence of inflammatory arthritis in association with large, erythematous, symmetrical cutaneous lesions (ranging from typical, but infrequent, cord-like lesions on the flanks to more common violaceous plaques on the trunk and limbs) featuring a typical histologic infiltrate mainly constituted of histiocytes. tmpaxzxjjyw_mondo_relaxed.owl IGDA|Ackerman dermatitis syndrome UMLS:CN205782|Orphanet:79099 owl:Class NCBITaxon:485 biolink:NamedThing Neisseria gonorrhoeae tmpaxzxjjyw_mondo_relaxed.owl Micrococcus gonorrhoeae|Merismopedia gonorrhoeae|Diplococcus gonorrhoeae|Micrococcus gonococcus|Micrococcus der gonorrhoe|Gonococcus neisseri GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:482 biolink:NamedThing Neisseria tmpaxzxjjyw_mondo_relaxed.owl Gonococcus|"Merismopedia" Zopf 1885 GC_ID:11|PMID:7520730 ncbi_taxonomy owl:Class UBERON:0018544 biolink:NamedThing trigeminal nerve muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044748 biolink:NamedThing anaplasmosis in cattle A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA. tmpaxzxjjyw_mondo_relaxed.owl Anaplasmoses MESH:D000712 owl:Class MONDO:0021142 biolink:NamedThing acquired rippling muscle disease The acquired form of RMD. Although RMD most often is reported with autosomal dominant inheritance, some sporadic cases are found, and an association with other diseases such as myasthenia gravis has also been reported. tmpaxzxjjyw_mondo_relaxed.owl sporadic rippling muscle disease|acquired rippling muscle disease owl:Class MONDO:0016105 biolink:NamedThing acquired skeletal muscle disease An instance of skeletal muscle disease that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired skeletal muscle disease UMLS:CN200878|Orphanet:206638 owl:Class MONDO:0024270 biolink:NamedThing parasitic intestinal disorder Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS. tmpaxzxjjyw_mondo_relaxed.owl parasitic intestinal diseases|intestine parasitic infection|parasitic intestinal disease|intestinal disease, parasitic|diseases, parasitic intestinal|disease, parasitic intestinal UMLS:C0021832|MESH:D007411 owl:Class UBERON:0007144 biolink:NamedThing embryonic post-anal tail tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011252 biolink:NamedThing spondyloepimetaphyseal dysplasia, Shohat type Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly. tmpaxzxjjyw_mondo_relaxed.owl SEMD, Shohat type|spondyloepimetaphyseal dysplasia Shohat type|spondyloepimetaphyseal dysplasia, Shohat type|SEMDSH|SEMD Shohat type UMLS:C1865185|Orphanet:93352|MESH:C566523|GARD:0004980|SCTID:719201004|ICD10:Q77.7|OMIM:602557 https://rarediseases.info.nih.gov/diseases/4980/spondyloepimetaphyseal-dysplasia-shohat-type owl:Class MONDO:0017081 biolink:NamedThing parietal encephalocele tmpaxzxjjyw_mondo_relaxed.owl SCTID:253109005|ICD10:Q01.8|Orphanet:268826 owl:Class MONDO:0016057 biolink:NamedThing isolated encephalocele Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur. tmpaxzxjjyw_mondo_relaxed.owl cranium bifidum|craniocele|bifid cranium|encephalocele Orphanet:199647|ICD10:Q01.0|ICD10:Q01.2|ICD10:Q01.1|MedDRA:10014617|ICD10:Q01.8|ICD10:Q01.9|GARD:0006333 owl:Class MONDO:0017005 biolink:NamedThing Y chromosome number anomaly tmpaxzxjjyw_mondo_relaxed.owl 2022-04-01 Orphanet:263746 Reason: grouping class. Term to consider: MONDO:0700064 MONDO:0700064 owl:Class GO:0015985 biolink:NamedThing energy coupled proton transport, down electrochemical gradient The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1902600 biolink:NamedThing proton transmembrane transport The directed movement of a proton across a membrane. tmpaxzxjjyw_mondo_relaxed.owl proton transport|hydrogen ion transmembrane transport|passive proton transport, down the electrochemical gradient|ATP hydrolysis coupled proton transport|hydrogen transport|proton transmembrane transport|hydrogen ion transport|hydrogen transmembrane transport owl:Class UBERON:0000316 biolink:NamedThing cervical mucus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000912 biolink:NamedThing mucus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013491 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability tmpaxzxjjyw_mondo_relaxed.owl megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation|MLC2B|megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability OMIM:613926|UMLS:C3151356|DOID:0080317|Orphanet:2478 owl:Class MONDO:0011391 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. tmpaxzxjjyw_mondo_relaxed.owl Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|megalencephalic leukodystrophy|MLC|megalencephaly-cystic leukodystrophy syndrome|Van der Knaap syndrome|MLC1|megalencephalic leukoencephalopathy with subcortical cysts type 1|megalencephalic leukoencephalopathy with subcortical cysts 1|megalencephaly-cystic leukodystrophy OMIM:613926|OMIM:604004|DOID:0080315|SCTID:703536004|MESH:C536141|GARD:0003445|OMIM:613925|UMLS:CN176898|ICD10:E75.2|Orphanet:2478 https://rarediseases.info.nih.gov/diseases/3445/megalencephalic-leukoencephalopathy-with-subcortical-cysts owl:Class HP:0011461 biolink:NamedThing Fetal onset Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). tmpaxzxjjyw_mondo_relaxed.owl Foetal onset UMLS:C4023347 The time interval of a gestation is called the gestation period. In human obstetrics, gestational age refers to the fertilization age plus two weeks. This is approximately the duration since the woman's last menstrual period began. peter 2012-03-25T06:58:21Z human_phenotype owl:Class HP:0030674 biolink:NamedThing Antenatal onset Onset prior to birth. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673646 human_phenotype owl:Class MONDO:0004358 biolink:NamedThing subglottis carcinoma A carcinoma of the larynx that arises from the subglottic area. tmpaxzxjjyw_mondo_relaxed.owl subglottic carcinoma|subglottis carcinoma|cancer of the subglottis|subglottic cancer|carcinoma of subglottis|subglottic throat cancer|cancer of subglottis|carcinoma of the subglottis NCIT:C5972|DOID:7764|UMLS:C1299239|SCTID:372104008 owl:Class MONDO:0001320 biolink:NamedThing ring staphyloma tmpaxzxjjyw_mondo_relaxed.owl ICD10:H15.85|ICD9:379.15|DOID:11594|UMLS:C0155363|SCTID:5299007 Editor note: consider placing in HPO owl:Class MONDO:0001321 biolink:NamedThing scleral staphyloma tmpaxzxjjyw_mondo_relaxed.owl scleral ectasia|scleral staphyloma (disease)|scleral staphyloma scleral staphyloma (disease) ICD9:379.11|UMLS:C0155359|SCTID:111534007|DOID:11595|HP:0030854|ICD10:H15.84 Editor note: consider obsoleting as is finding owl:Class GO:0140353 biolink:NamedThing lipid export from cell The directed movement of a lipid from a cell, into the extracellular region. tmpaxzxjjyw_mondo_relaxed.owl lipid efflux owl:Class MONDO:0009123 biolink:NamedThing dopamine beta-hydroxylase deficiency Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension. tmpaxzxjjyw_mondo_relaxed.owl dopamine BETA-HYDROXYLASE deficiency, congenital|norepinephrine deficiency|noradrenaline deficiency|congenital dopamine beta-hydroxylase deficiency|dopamine beta hydroxylase deficiency|dopamine beta-hydroxylase deficiency GARD:0001903|ICD10:G90.8|UMLS:C0342687|SCTID:237923004|Orphanet:230|ICD9:270.8|OMIM:223360|MESH:C535600|DOID:0090145|GARD:1903 https://rarediseases.info.nih.gov/diseases/1903/dopamine-beta-hydroxylase-deficiency owl:Class HGNC:17397 biolink:NamedThing BANF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009784 biolink:NamedThing ophthalmoplegic neuromuscular disorder with abnormal mitochondria tmpaxzxjjyw_mondo_relaxed.owl ophthalmoplegic neuromuscular disorder with abnormal mitochondria OMIM:258470|UMLS:C1850302|MESH:C564925 owl:Class CHEBI:15705 biolink:NamedThing L-alpha-amino acid Any alpha-amino acid having L-configuration at the alpha-carbon. tmpaxzxjjyw_mondo_relaxed.owl L-alpha-amino acids|L-Amino acid|L-2-Amino acid|L-alpha-amino acid owl:Class CHEBI:33704 biolink:NamedThing alpha-amino acid An amino acid in which the amino group is located on the carbon atom at the position alpha to the carboxy group. tmpaxzxjjyw_mondo_relaxed.owl alpha-amino carboxylic acids|Amino acid|Amino acids|alpha-amino acids|alpha-amino acid owl:Class HGNC:15561 biolink:NamedThing IL36RN tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006066 biolink:NamedThing alcohol metabolic process The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. tmpaxzxjjyw_mondo_relaxed.owl alcohol metabolism owl:Class MONDO:0018277 biolink:NamedThing congenital muscular dystrophy with cerebellar involvement tmpaxzxjjyw_mondo_relaxed.owl CMD with cerebellar involvement|CMD-CRB OMIM:613151|OMIM:606612|OMIM:613156|Orphanet:370959|OMIM:613155|ICD10:G71.2|OMIM:615351 owl:Class HGNC:30089 biolink:NamedThing PWAR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011552 biolink:NamedThing schizophrenia 10 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD10 on chromosome 15q15. tmpaxzxjjyw_mondo_relaxed.owl schizophrenia 10|schizophrenia susceptibility locus, chromosome 15Q15-related|catatonia, periodic|SCZD10 OMIM:605419|MESH:D012560|DOID:0070086 owl:Class GO:0004857 biolink:NamedThing enzyme inhibitor activity Binds to and stops, prevents or reduces the activity of an enzyme. tmpaxzxjjyw_mondo_relaxed.owl metalloenzyme inhibitor activity owl:Class GO:0030234 biolink:NamedThing enzyme regulator activity Binds to and modulates the activity of an enzyme. tmpaxzxjjyw_mondo_relaxed.owl enzyme modulator|catalytic regulator activity|metalloenzyme regulator activity owl:Class UBERON:0010075 biolink:NamedThing sacral neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012084 biolink:NamedThing aromatic L-amino acid decarboxylase deficiency Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction. tmpaxzxjjyw_mondo_relaxed.owl Dopa decarboxylase deficiency|Aadc deficiency|aromatic L-amino acid decarboxylase deficiency|DDC deficiency|aromatic L-amino-acid decarboxylase deficiency|AADC deficiency|aromatic amino acid decarboxylase deficiency GARD:0000770|SCTID:237922009|MESH:C537437|Orphanet:35708|DOID:0090123|NCIT:C142085|ICD10:G24.8|ICD9:270.8|GARD:770|OMIM:608643 https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency owl:Class MONDO:0017759 biolink:NamedThing disorder of catecholamine synthesis tmpaxzxjjyw_mondo_relaxed.owl SCTID:237921002|Orphanet:309830|ICD9:270.8|UMLS:C0342685 owl:Class UBERON:0009539 biolink:NamedThing mesenchyme of submandibular gland primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012666 biolink:NamedThing asthma-related traits, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl asthma-related traits, susceptibility to, 6|asthma-related traits, susceptibility to, type 6|ASRT6 OMIM:611403 owl:Class MONDO:0008912 biolink:NamedThing cardiac septal defects with coarctation of the aorta tmpaxzxjjyw_mondo_relaxed.owl cardiac septal defects with coarctation of the aorta OMIM:212090|UMLS:C1859331|MESH:C565883 owl:Class MONDO:0007974 biolink:NamedThing intellectual disability, autosomal dominant 1 An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability 1|mental retardation, autosomal dominant type 1|autosomal dominant intellectual disability 1|chromosome 2Q23.1 deletion syndrome|intellectual disability, autosomal dominant 1|autosomal dominant mental retardation 1|MBD5 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5|intellectual disability, autosomal dominant type 1|mental retardation, autosomal dominant 1|MRD1 NCIT:C141424|MESH:C566947|Orphanet:228402|OMIM:156200|DOID:0070031 owl:Class MONDO:0007923 biolink:NamedThing macrocephaly, benign familial tmpaxzxjjyw_mondo_relaxed.owl benign familial macrocephaly|benign familial megalencephaly|macrocephaly, benign familial|Cole-Hughes syndrome GARD:0000147|MESH:C537717|OMIM:153470 https://rarediseases.info.nih.gov/diseases/147/macrocephaly-benign-familial owl:Class GO:0019866 biolink:NamedThing organelle inner membrane The inner, i.e. lumen-facing, lipid bilayer of an organelle envelope; usually highly selective to most ions and metabolites. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012215 biolink:NamedThing myofibrillar myopathy 3 A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years. tmpaxzxjjyw_mondo_relaxed.owl limb-girdle muscular dystrophy type 1A|MYOT autosomal dominant distal myopathy|proximal muscular dystrophy type 1A|muscular dystrophy limb-girdle type 1A|myopathy, myofibrillar, type 3|distal myotilinopathy|autosomal dominant limb-girdle muscular dystrophy type 1A|LGMD1|autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT|muscular dystrophy, proximal, type 1A|limb-girdle muscular dystrophy due to myotilin deficiency|autosomal dominant distal myopathy caused by mutation in MYOT|MYOT autosomal dominant limb-girdle muscular dystrophy|myopathy, myofibrillar, myotilin-related|myopathy, myofibrillar, 3|muscular dystrophy, limb-girdle, type 1A|myofibrillar myopathy type 3|MFM3|myotilinopathy|LGMD1A ICD10:G71.0|SCTID:719985001|Orphanet:266|MESH:C535906|ICD10:G71.8|OMIM:609200|UMLS:C1836607|UMLS:C1834659|DOID:0110300|GARD:0010229|OMIM:159000|MESH:C563775|Orphanet:98911|SCTID:765196004|DOID:0080094 https://rarediseases.info.nih.gov/diseases/10229/limb-girdle-muscular-dystrophy-type-1a owl:Class MONDO:0015151 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal dominant Autosomal dominant form of limb-girdle muscular dystrophy. tmpaxzxjjyw_mondo_relaxed.owl limb-girdle muscular dystrophy, autosomal dominant|autosomal dominant limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, autosomal dominant Orphanet:102014|ICD10:G71.0|UMLS:CN228919|OMIMPS:603511|DOID:0110273|UMLS:CN043626 owl:Class GO:0060124 biolink:NamedThing positive regulation of growth hormone secretion Any process that increases the frequency, rate or extent of the regulated release of growth hormone from a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:163159 biolink:NamedThing Xenopsylla cheopis tmpaxzxjjyw_mondo_relaxed.owl oriental rat flea GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:163158 biolink:NamedThing Xenopsylla tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002503 biolink:NamedThing adult astrocytic tumour An astrocytic tumor occurring during adulthood. Representative examples include diffuse astrocytoma, anaplastic astrocytoma, and glioblastoma. tmpaxzxjjyw_mondo_relaxed.owl adult astrocytic tumor|astrocytic tumor|adult astrocytic neoplasm|adult astrocytoma UMLS:C1332183|NCIT:C7049|DOID:3076 owl:Class MONDO:0021636 biolink:NamedThing astrocytic tumor A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma. tmpaxzxjjyw_mondo_relaxed.owl astrocytic tumor|astrocytoma of cerebrum|astroglioma|astrocytoma of brain|astrocytoma|astrocytoma, no ICD-O subtype|astrocytic neoplasm OMIM:137800|MESH:D001254|NCIT:C6958|EFO:0000272|SCTID:99131000119108|Orphanet:94|MedDRA:10003571|DOID:3069|NCIT:C4951 This class encompasses astrocytomas proper as well as GBM. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23 owl:Class MONDO:0013084 biolink:NamedThing neuroblastoma, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl NBLST4|neuroblastoma, susceptibility to, 4 OMIM:613015|Orphanet:635 owl:Class MONDO:0003062 biolink:NamedThing intestinal benign neoplasm A benign neoplasm that involves the intestine. tmpaxzxjjyw_mondo_relaxed.owl benign intestinal neoplasm|benign neoplasm of intestines|benign neoplasms of the large and/or small intestine|intestinal neoplasms, benign|benign neoplasm of the intestines|benign intestinal neoplasms|benign intestinal tumor|intestine benign neoplasm|benign tumor of intestines|benign neoplasms of large and/or small intestine|benign intestine tumor|benign tumor of the intestines|intestinal tumors, benign|benign intestine neoplasm|benign intestinal tumors NCIT:C4609|SCTID:92151003|UMLS:C0347269 owl:Class ECTO:9000044 biolink:NamedThing exposure to ketone An exposure to ketone. tmpaxzxjjyw_mondo_relaxed.owl exposure to ketone owl:Class MONDO:0014636 biolink:NamedThing combined oxidative phosphorylation defect type 25 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the MARS2 gene. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency 25|combined oxidative phosphorylation deficiency type 25|MARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in MARS2|COXPD25 EFO:0009035|ICD10:E88.8|Orphanet:447954|OMIM:616430|UMLS:C4225329|DOID:0111468 owl:Class GO:0030335 biolink:NamedThing positive regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration. tmpaxzxjjyw_mondo_relaxed.owl activation of cell migration|stimulation of cell migration|upregulation of cell migration|up regulation of cell migration|up-regulation of cell migration owl:Class GO:2000147 biolink:NamedThing positive regulation of cell motility Any process that activates or increases the frequency, rate or extent of cell motility. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cell locomotion|positive regulation of cell movement|positive regulation of movement of a cell owl:Class MONDO:0008857 biolink:NamedThing Beemer-Ertbruggen syndrome Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. Transmission is likely autosomal recessive. There have been no further descriptions in the literature since 1984. tmpaxzxjjyw_mondo_relaxed.owl Beemer lethal malformation syndrome|hydrocephalus, cardiac malformation, dense bones, etc|Beemer Ertbruggen syndrome|peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome|lethal hydrocephalus-cardiac malformation-dense bones syndrome|hydrocephalus, Cardiac malformation, dense bones, etc. OMIM:209970|UMLS:C1859526|SCTID:717859007|Orphanet:1237|ICD10:Q87.8|MESH:C537668|GARD:0000846 https://rarediseases.info.nih.gov/diseases/846/beemer-ertbruggen-syndrome owl:Class HGNC:7372 biolink:NamedThing MSMB tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015748 biolink:NamedThing organophosphate ester transport The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0047045 biolink:NamedThing testosterone 17-beta-dehydrogenase (NADP+) activity Catalysis of the reaction: NADP+ + testosterone = NADPH + H+ + androst-4-ene-3,17-dione. tmpaxzxjjyw_mondo_relaxed.owl testosterone 17beta-dehydrogenase (NADP+)|17beta-hydroxysteroid:NADP+ 17-oxidoreductase activity|NADP-dependent testosterone-17beta-oxidoreductase activity|17-ketoreductase activity owl:Class GO:0033764 biolink:NamedThing steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP, and in which one substrate is a sterol derivative. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004535 biolink:NamedThing childhood choriocarcinoma of the ovary A non-gestational choriocarcinoma that arises from the ovary and occurs in children. tmpaxzxjjyw_mondo_relaxed.owl pediatric choriocarcinoma of the ovary|childhood choriocarcinoma of ovary|childhood ovarian choriocarcinoma|pediatric ovarian choriocarcinoma|pediatric choriocarcinoma of ovary|choriocarcinoma of ovary of childhood UMLS:C1332987|DOID:8336|NCIT:C6549 owl:Class MONDO:0004611 biolink:NamedThing soft palate cancer A primary or metastatic malignant neoplasm that affects the soft palate. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of the soft palate|malignant tumor of soft palate|malignant neoplasm of the soft palate|soft palate cancer|malignant soft palate tumor|cancer of soft palate|malignant neoplasm of soft palate|malignant soft palate neoplasm NCIT:C3529|ICD9:145.3|DOID:8578|UMLS:C0153376|ICD10:C05.1|SCTID:363388009 owl:Class NCBITaxon:1980413 biolink:NamedThing Hantaviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1980410 biolink:NamedThing Bunyavirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003868 biolink:NamedThing anterior foramen magnum meningioma A meningioma that affects the anterior foramen magnum. tmpaxzxjjyw_mondo_relaxed.owl meningioma of the anterior Foramen magnum|meningioma of anterior Foramen magnum DOID:6381|UMLS:C1332302|NCIT:C5281 owl:Class MONDO:0002705 biolink:NamedThing breast mucinous cystadenocarcinoma An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are identified. tmpaxzxjjyw_mondo_relaxed.owl breast mucinous cystadenocarcinoma DOID:3609|UMLS:C1511318|NCIT:C40354 owl:Class MONDO:0015808 biolink:NamedThing folliculotropic mycosis fungoides Folliculotropic mycosis fungoides is a rare variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of folliculotropic infiltrates in patch-plaque lesions usually involving the head and neck area. tmpaxzxjjyw_mondo_relaxed.owl folliculotropic mycosis fungoides|follicular mucinosis type mycosis fungoides|mycosis fungoides-associated follicular mucinosis|follicular mycosis fungoides|alopecia mucinosa (t cell lymphoma) ICD10:C84.0|Orphanet:178512|ICD9:701.8|SCTID:404109006|UMLS:C1627767|NCIT:C35685 owl:Class MONDO:0045071 biolink:NamedThing mycosis fungoides variant tmpaxzxjjyw_mondo_relaxed.owl mycosis fungoides variant NCIT:C39644|UMLS:C1513782 owl:Class MONDO:0020726 biolink:NamedThing tubulointerstitial kidney disease, autosomal dominant, 2 An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. tmpaxzxjjyw_mondo_relaxed.owl MCKD1|autosomal dominant medullary cystic kidney disease without hyperuricemia|polycystic kidneys, medullary type|Mckd|MUCI-related ADTKD|ADTKD-MUC1|MUC1-related autosomal dominant medullary cystic kidney disease|ADMCKD1|autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1|medullary cystic kidney disease, autosomal dominant|medullary cystic kidney disease type 1|medullary cystic kidney disease 1|MUC1-related autosomal dominant tubulointerstitial kidney disease Orphanet:88949|NCIT:C123171|UMLS:CN206321|GARD:0007002|UMLS:C1868139|ICD10:Q61.5|OMIM:174000|Orphanet:34149 https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations owl:Class MONDO:0008264 biolink:NamedThing autosomal dominant medullary cystic kidney disease with or without hyperuricemia A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1). tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant interstitial kidney disease|autosomal dominant medullary cystic kidney disease|autosomal dominant medullary cystic kidney disease with or without hyperuricemia|medullary cystic disease|autosomal dominant tubulointerstitial kidney disease|MCKD|ADTKD|polycystic kidneys, medullary type|medullary cystic kidney disease SCTID:444699000|ICD10:Q61.5|Orphanet:34149|UMLS:CN536252|MEDGEN:358137|OMIM:174000|MEDGEN:881357|UMLS:C4054549|UMLS:C4511620|MESH:C536137|GARD:0010801|OMIM:603860|UMLS:CN204412|OMIM:609886|EFO:0008617 https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease owl:Class NCBITaxon:6211 biolink:NamedThing Echinococcus multilocularis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6209 biolink:NamedThing Echinococcus tmpaxzxjjyw_mondo_relaxed.owl PMID:16352465|PMID:17156584|GC_ID:1|PMID:12377596|PMID:12964823|PMID:18180956|PMID:18338180 ncbi_taxonomy owl:Class GO:0048518 biolink:NamedThing positive regulation of biological process Any process that activates or increases the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl stimulation of biological process|activation of biological process|up-regulation of biological process|positive regulation of physiological process|up regulation of biological process|upregulation of biological process owl:Class MONDO:0009282 biolink:NamedThing multiple acyl-CoA dehydrogenase deficiency A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure. tmpaxzxjjyw_mondo_relaxed.owl glutaric acidemia type II|glutaric acidemia type 2|glutaric aciduria type 2|glutaric acidemia 2|Etfb deficiency|glutaric acidemia 2A|glutaric acidemia 2C|Etfa deficiency|Ga 2|ethylmalonic-Adipicaciduria|multiple acyl-CoA dehydrogenase deficiency|EMA|MADD|glutaric acidemia 2B|multiple acyl Coenzyme A dehydrogenase deficiency|glutaric aciduria, type 2|MAD deficiency|glutaric aciduria 2|electron transfer flavoprotein ubiquinone oxidoreductase deficiency|Etfdh deficiency|electron transfer flavoprotein deficiency GARD:0006523|Orphanet:26791|ICD10:E71.3|OMIM:231680|DOID:0060358|UMLS:C0268596|ICD10:E71.313|NCIT:C84907|NCIT:C99102 Also known as glutaric acidemia II. Referenced from Glutaric aciduria, type I (231670). owl:Class HGNC:9451 biolink:NamedThing PROC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022819 biolink:NamedThing congenital arteriovenous shunt tmpaxzxjjyw_mondo_relaxed.owl GARD:0006150 https://rarediseases.info.nih.gov/diseases/6150/congenital-arteriovenous-shunt owl:Class MONDO:0003334 biolink:NamedThing demyelinating polyneuropathy Polyneuropathy that is characterized by demyelination of axons. tmpaxzxjjyw_mondo_relaxed.owl peripheral demyelinating neuropathy SCTID:23414001|ICD9:356.9|DOID:5214|UMLS:C0270922|NCIT:C27062 owl:Class MONDO:0002562 biolink:NamedThing demyelinating disease A broad group of disorders that affect the myelin sheaths that cover the neurons. Myelin sheathes cover neuronal axons in the central and peripheral nervous system and function to increase travelling impulse speeds. Disruption of this sheath impairs neuronal transmission and can result in disorders such as multiple sclerosis and Guillain-Barre syndrome, among others. tmpaxzxjjyw_mondo_relaxed.owl demyelinating disorder DOID:3213|NCIT:C34527|UMLS:C0011303|ICD10:G35.G37|MESH:D003711 owl:Class MONDO:0006638 biolink:NamedThing acute retinal necrosis syndrome Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome. tmpaxzxjjyw_mondo_relaxed.owl acute retinal necrosis EFO:1000795|MESH:D015882|SCTID:231986000|UMLS:C0035319|DOID:3611 owl:Class UBERON:0004365 biolink:NamedThing vitelline blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000915 biolink:NamedThing thoracic segment of trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006183 biolink:NamedThing disseminated peritoneal leiomyomatosis A rare, benign process that affects the peritoneal cavity and is characterized by the formation of multiple small nodules that are composed of well differentiated smooth muscle. It usually affects adults in their late reproductive years. Most patients are asymptomatic. The tumor nodules may regress spontaneously. tmpaxzxjjyw_mondo_relaxed.owl leiomyomatosis peritonealis disseminate|leiomyomatosis peritonealis disseminata|diffuse peritoneal leiomyomatosis|LPD|DPL|disseminated peritoneal leiomyomatosis SCTID:62557001|ICD10:D20.1|UMLS:C0267785|Orphanet:71274|NCIT:C3958|GARD:0012843|EFO:1000220|DOID:5728 owl:Class GO:0051250 biolink:NamedThing negative regulation of lymphocyte activation Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte activation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of lymphocyte activation|down-regulation of lymphocyte activation|downregulation of lymphocyte activation|inhibition of lymphocyte activation owl:Class MONDO:0007718 biolink:NamedThing hepatic adenomas, familial tmpaxzxjjyw_mondo_relaxed.owl hepatic adenomas, familial|liver cell adenomas, familial MESH:C564190|OMIM:142330|UMLS:C1840646|DOID:0111366 owl:Class HGNC:28337 biolink:NamedThing C9orf72 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011071 biolink:NamedThing hereditary thrombocytopenia and hematologic cancer predisposition syndrome The disorder is characterized by thrombocytopenia of varying severity and a predisposition to hematologic malignancies. It may be caused due to germ line variations in the RUNX1, ETV6 or ANKRD26 genes. tmpaxzxjjyw_mondo_relaxed.owl hereditary thrombocytopenia and hematologic cancer predisposition syndrome GARD:0010352|MESH:C563324|ICD10:D69.4|SCTID:725034002|OMIM:616216|Orphanet:71290|UMLS:C1832388 owl:Class MONDO:0007697 biolink:NamedThing hand clasping pattern tmpaxzxjjyw_mondo_relaxed.owl hand clasping pattern OMIM:139800 owl:Class UBERON:0007732 biolink:NamedThing interphalangeal joint of manual digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016987 biolink:NamedThing neuroacanthocytosis Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia. tmpaxzxjjyw_mondo_relaxed.owl neuroacanthocytosis syndrome Orphanet:263440|GARD:0010902|DOID:0050765|NCIT:C84926 owl:Class MONDO:0017662 biolink:NamedThing miscellaneous movement disorder due to genetic neurodegenerative disease tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:307058|UMLS:CN203549 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: movement disorder' MONDO_0005395 owl:Class MONDO:0011007 biolink:NamedThing diaphragmatic defect-limb deficiency-skull defect syndrome This syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations. It has been reported only once in four successive foetuses (two females and two males) born to a nonconsanguineous couple. The spectrum of malformations is wide and includes, besides diaphragmatic hernia and hypoplastic lungs (present in the four foetuses), omphalocele (one case), severe limb hypoplasia (two cases), syndactyly of the toes (two cases), extra spleen (one case), and an ossification defect of the skull (one case). Inheritance seems either to be autosomal recessive or due to a gonadal mosaicism in one parent. Prenatal diagnosis of diaphragmatic hernia and severe lung hypoplasia detected on ultrasonography made the parents opt for termination of the four pregnancies. tmpaxzxjjyw_mondo_relaxed.owl froster-Huch syndrome|froster syndrome|diaphragmatic defects, limb deficiencies, and ossification defects of skull|diaphragmatic defect limb deficiency skull defect Orphanet:2141|OMIM:601163|SCTID:721095007|ICD10:Q87.8|GARD:0002397|MESH:C563380 https://rarediseases.info.nih.gov/diseases/2397/froster-huch-syndrome owl:Class MONDO:0007804 biolink:NamedThing Pallister-Hall syndrome Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations. tmpaxzxjjyw_mondo_relaxed.owl Pallister-Hall syndrome|hypothalamic hamartoblastoma syndrome|hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly|PHS|ano-cerebro-digital syndrome|Pallister Hall syndrome Orphanet:672|OMIM:146510|ICD10:D33.0|ICD9:759.89|GARD:0007305|SCTID:56677004|DOID:9248|MESH:D054975|NCIT:C84987|UMLS:C0265220 https://rarediseases.info.nih.gov/diseases/7305/pallister-hall-syndrome owl:Class FOODON:00001093 biolink:NamedThing cereal grain food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001173 biolink:NamedThing plant seed food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003531 biolink:NamedThing forelimb skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0014053 biolink:NamedThing negative regulation of gamma-aminobutyric acid secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of gamma-aminobutyric acid. tmpaxzxjjyw_mondo_relaxed.owl downregulation of gamma-aminobutyric acid secretion|inhibition of gamma-aminobutyric acid secretion|negative regulation of GABA secretion|down regulation of gamma-aminobutyric acid secretion|down-regulation of gamma-aminobutyric acid secretion owl:Class MONDO:0004459 biolink:NamedThing bladder hepatoid adenocarcinoma A hepatoid adenocarcinoma that involves the urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl bladder hepatoid adenocarcinoma DOID:8097|UMLS:C1511189|NCIT:C39838 owl:Class MONDO:0006243 biolink:NamedThing hepatoid adenocarcinoma An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. tmpaxzxjjyw_mondo_relaxed.owl hepatoid carcinoma|hepatoid adenocarcinoma UMLS:C1266090|DOID:0060534|NCIT:C66950|EFO:1000293|ICDO:8576/3 owl:Class MONDO:0013642 biolink:NamedThing holoprosencephaly 11 Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene. tmpaxzxjjyw_mondo_relaxed.owl holoprosencephaly caused by mutation in CDON|CDON holoprosencephaly|HPE11|holoprosencephaly type 11|holoprosencephaly 11 UMLS:C3280215|DOID:0110877|OMIM:614226|Orphanet:2162 owl:Class MONDO:0011094 biolink:NamedThing dilated cardiomyopathy 1C A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2. tmpaxzxjjyw_mondo_relaxed.owl dilated cardiomyopathy type 1C|cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction|left ventricular noncompaction 3|CMD1C|CMDC1|cardiomyopathy, familial hypertrophic, 24|dilated cardiomyopathy 1C with or without left ventricular noncompaction OMIM:601493|DOID:0110423|Orphanet:54260|MESH:C563307|Orphanet:154|NCIT:C170436|ICD10:I42.0 owl:Class MONDO:0024573 biolink:NamedThing familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic familial cardiomyopathy|cardiomyopathy, familial hypertrophic|hereditary hypertrophic cardiomyopathy|familila or idiopathic hypertrophic obstructive cardiomyopathy|familial hypertrophic cardiomyopathy DOID:0080326|MESH:D024741|NCIT:C84773|GARD:0007229|Orphanet:155|SCTID:471885006|OMIMPS:192600 owl:Class MONDO:0016071 biolink:NamedThing juvenile hyaline fibromatosis Juvenile hyaline fibromatosis (JHF) is a rare soft tissue tumor, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis. tmpaxzxjjyw_mondo_relaxed.owl Murray-Puretic-Drescher syndrome|Puretic syndrome|Molluscum fibrosum|mesenchymal dysplasia ICD9:733.29|OMIM:228600|ICD10:M72.8|UMLS:C2745948|Orphanet:2028|NCIT:C98297|SCTID:238861002 owl:Class MONDO:0009229 biolink:NamedThing hyaline fibromatosis syndrome tmpaxzxjjyw_mondo_relaxed.owl hyalinosis, systemic|infantile systemic hyalinosis (former subtype)|hyaline fibromatosis syndrome|inherited systemic hyalinosis|HFS|juvenile hyaline fibromatosis (former subtype) OMIM:228600|UMLS:C2745948|Orphanet:498474|GARD:0006807|Orphanet:2028|DOID:0111669 owl:Class GO:0001979 biolink:NamedThing regulation of systemic arterial blood pressure by chemoreceptor signaling The process that modulates blood pressure by the action of chemoreceptors found in the carotid and aortic bodies and their resultant modulation of the vasomotor center. Chemoreceptors respond to oxygen, carbon dioxide and hydrogen ions. tmpaxzxjjyw_mondo_relaxed.owl chemoreceptor regulation of systemic arterial blood pressure|regulation of systemic arterial blood pressure by chemoreceptor signalling|chemoreceptor control of blood pressure owl:Class GO:0001976 biolink:NamedThing nervous system process involved in regulation of systemic arterial blood pressure The regulation of blood pressure mediated by detection of stimuli and a neurological response. tmpaxzxjjyw_mondo_relaxed.owl blood pressure regulation by neurological process|neurological system process involved in regulation of systemic arterial blood pressure|fast control of arterial pressure|neurological process involved in regulation of systemic arterial blood pressure owl:Class HGNC:799 biolink:NamedThing ATP1A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015771 biolink:NamedThing mosaic trisomy 7 Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported. tmpaxzxjjyw_mondo_relaxed.owl Mosaic trisomy type 7|Mosaic trisomy chromosome 7|trisomy 7 mosaicism UMLS:CN036006|Orphanet:1747|GARD:0005354|SCTID:764630003|ICD10:Q92.1|MESH:C537822 https://rarediseases.info.nih.gov/diseases/5354/mosaic-trisomy-7 owl:Class MONDO:0020051 biolink:NamedThing total autosomal trisomy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98131 owl:Class UBERON:0006929 biolink:NamedThing glandular columnar epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006799 biolink:NamedThing glandular epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007358 biolink:NamedThing comedones, familial Dyskeratotic tmpaxzxjjyw_mondo_relaxed.owl comedones, familial Dyskeratotic UMLS:C0345424|OMIM:120450|SCTID:254219004|ICD9:757.39|MESH:C562838 owl:Class MONDO:0011622 biolink:NamedThing nephrolithiasis, uric acid, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl susceptibility to uric acid nephrolithiasis|urolithiasis, uric acid, susceptibility to|UAN|nephrolithiasis, uric acid, susceptibility to OMIM:605990 owl:Class MONDO:0044641 biolink:NamedThing 9q33.3q34.11 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl 9q33.3-q34.11 microdeletion syndrome|monosomy 9q33.3q34.11|Del(9)(q33.3q34.11)|monosomy 9q33.3-q34.11|deletion 9q33.3q34.11 Orphanet:495818 owl:Class MONDO:0004857 biolink:NamedThing tendinitis Inflammation of a tendon, usually resulting from an overuse injury. It is characterized by swelling of the tendon, tenderness around the inflamed tendon, and pain while moving the affected area of the body. tmpaxzxjjyw_mondo_relaxed.owl tendon inflammation|tendonitis|inflammation of tendon ICD10:M77.9|MESH:D052256|SCTID:34840004|DOID:971|NCIT:C97141|UMLS:C0039503 owl:Class CL:0000058 biolink:NamedThing chondroblast Skeletogenic cell that is typically non-terminally differentiated, secretes an avascular, GAG rich matrix; is not buried in cartilage tissue matrix, retains the ability to divide, located adjacent to cartilage tissue (including within the perichondrium), and develops from prechondroblast (and thus prechondrogenic) cell. tmpaxzxjjyw_mondo_relaxed.owl chrondoplast BTO:0003607|FMA:66783 cell owl:Class MONDO:0001708 biolink:NamedThing pulmonary sarcoidosis Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss. tmpaxzxjjyw_mondo_relaxed.owl sarcoidosis of lung|lung sarcoidosis UMLS:C0036205|ICD9:517.8|DOID:13406|NCIT:C34997|ICD10:D86.0|MESH:D017565|SCTID:24369008 owl:Class MONDO:0017028 biolink:NamedThing secondary interstitial lung disease specific to adulthood associated with a systemic disease tmpaxzxjjyw_mondo_relaxed.owl secondary ILD specific to adulthood associated with a systemic disease 2022-03-01 Orphanet:264745|UMLS:CN202340 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class PATO:0002305 biolink:NamedThing increased object quality A quality of an object that has a value that is increased compared to normal or average. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003603 biolink:NamedThing non-functioning pituitary gland neoplasm A hormone producing or non-producing pituitary gland adenoma or carcinoma, not associated with a hormonal syndrome. tmpaxzxjjyw_mondo_relaxed.owl non-functioning pituitary gland tumor|non-functioning pituitary neoplasm|non-functioning tumor of the pituitary gland|non-functioning pituitary gland neoplasm|non-functioning tumor of pituitary gland|non-functioning tumor of pituitary|non-functioning endocrine neoplasm of pituitary gland|non-functioning neoplasm of pituitary|non-functioning tumor of the pituitary|nonfunctional pituitary gland neoplasm|pituitary gland non-functioning endocrine neoplasm|non-functioning neoplasm of the pituitary gland|non-functioning pituitary tumor|non-functioning neoplasm of the pituitary|Nonfunctioning pituitary tumor|non-functioning neoplasm of pituitary gland SCTID:448563005|NCIT:C4009 owl:Class MONDO:0021119 biolink:NamedThing non-functioning endocrine neoplasm A hormone producing or non-producing endocrine neoplasm, not associated with a hormonal syndrome. tmpaxzxjjyw_mondo_relaxed.owl endocrine-inactive tumor|non-functioning endocrine neoplasm|nonfunctioning tumor|nonfunctional Endocrine neoplasm NCIT:C94760|UMLS:C2986656 owl:Class MONDO:0004054 biolink:NamedThing acute canaliculitis tmpaxzxjjyw_mondo_relaxed.owl acute lacrimal canaliculitis|acute canaliculitis, lacrimal SCTID:84399007|ICD9:375.31|UMLS:C0339130|DOID:6969|ICD10:H04.33 owl:Class MONDO:0004055 biolink:NamedThing acute inflammation of lacrimal passage tmpaxzxjjyw_mondo_relaxed.owl DOID:6970|ICD10:H04.3|UMLS:C0339129|ICD9:375.3|SCTID:302900006 owl:Class CHEBI:36828 biolink:NamedThing pseudohalide anion tmpaxzxjjyw_mondo_relaxed.owl pseudohalide ions|pseudohalides|pseudohalide anions|pseudohalogen anion|pseudohalogen ion owl:Class CHEBI:36829 biolink:NamedThing polyatomic monoanion tmpaxzxjjyw_mondo_relaxed.owl polyatomic monoanions owl:Class NCBITaxon:1279 biolink:NamedThing Staphylococcus tmpaxzxjjyw_mondo_relaxed.owl Aurococcus PMID:17220435|PMID:10758876|PMID:12656157|PMID:9734063|PMID:10319469|PMID:10425778|PMID:10319495|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:90964 biolink:NamedThing Staphylococcaceae tmpaxzxjjyw_mondo_relaxed.owl Staphylococcus group GC_ID:11 ncbi_taxonomy owl:Class MONDO:0002716 biolink:NamedThing childhood spinal cord tumor A benign or malignant neoplasm affecting the spinal cord during childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric spinal cord neoplasm|childhood spinal cord neoplasm|spinal cord neoplasm of childhood NCIT:C9234|DOID:3637|UMLS:C1134515 owl:Class MONDO:0014902 biolink:NamedThing nasopharyngeal carcinoma, susceptibility to, 3 Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene. tmpaxzxjjyw_mondo_relaxed.owl nasopharyngeal carcinoma, susceptibility to, type 3|nasopharyngeal carcinoma, susceptibility to, 3|nasopharyngeal carcinoma, susceptibility to, 3; NPCA3|susceptibility to nasopharyngeal carcinoma 3|MST1R nasopharyngeal carcinoma|NPCA3|nasopharyngeal carcinoma caused by mutation in MST1R OMIM:617075 owl:Class MONDO:0010906 biolink:NamedThing orofacial cleft 11 Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene. tmpaxzxjjyw_mondo_relaxed.owl orofacial cleft caused by mutation in BMP4|orofacial cleft type 11|orofacial cleft 11|OFC11|cleft Lip, congenital Healed|congenital Healed cleft lip|BMP4 orofacial cleft|cleft lip with or without cleft palate, nonsyndromic, 11 Orphanet:1991|UMLS:C2677434|OMIM:600625|DOID:0080404 owl:Class MONDO:0017939 biolink:NamedThing classic multiminicore myopathy tmpaxzxjjyw_mondo_relaxed.owl classic MmD|classic multiminicore disease Orphanet:324604|OMIM:602771|UMLS:CN204085|ICD10:G71.2 owl:Class MONDO:0100175 biolink:NamedThing TTN-related myopathy A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes. tmpaxzxjjyw_mondo_relaxed.owl congenital myopathy related to TTN|TTN myopathy In the absence of evidence supporting distinct differences in molecular mechanisms between the associated disease entities, as well as considerable phenotypic overlap, these entities can be considered part of a clinical spectrum of TTN-related myopathy. http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0021421 biolink:NamedThing carcinoid tumors, intestina tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 OMIM:114900 Reason: duplicate. This will be merged with MONDO:0021533 owl:Class MONDO:0018071 biolink:NamedThing trisomy 18 Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. tmpaxzxjjyw_mondo_relaxed.owl chromosome 18 duplication|E3 trisomy|trisomy 18|Edwards syndrome|trisomy E (formerly)|complete trisomy 18 syndrome|trisomy type 18|chromosome 18 trisomy|18 trisomy|trisomy 16-18 (formerly) ICD9:758.2|ICD10:Q91.2|ICD10:Q91.3|NCIT:C36626|ICD10:Q91.0|MESH:C580500|UMLS:C0152096|GARD:0006321|MedDRA:10053884|DOID:1085|SCTID:51500006|ICD10:Q91.1|Orphanet:3380 owl:Class MONDO:0020841 biolink:NamedThing neurodevelopmental disorder with cerebellar atrophy and with or without seizures tmpaxzxjjyw_mondo_relaxed.owl NEDCAS|neurodevelopmental disorder with cerebellar atrophy and with or without seizures UMLS:CN252657|OMIM:618056 owl:Class CL:4006000 biolink:NamedThing fibroblast of breast A fibroblast that is part of the breast. tmpaxzxjjyw_mondo_relaxed.owl breast fibroblast owl:Class CL:1000442 biolink:NamedThing urothelial cell of trigone of urinary bladder An urothelial cell that is part of the trigone of urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl epithelial cell of vesical trigone FMA:70598 cell owl:Class CL:0000731 biolink:NamedThing urothelial cell A cell of a layer of transitional epithelium in the wall of the bladder, ureter, and renal pelvis, external to the lamina propria. tmpaxzxjjyw_mondo_relaxed.owl urinary tract transitional epithelial cell|transitional epithelial cell of urinary bladder|bladder transitional cell FMA:84127 cell owl:Class MONDO:0016408 biolink:NamedThing permanent congenital hypothyroidism Permanent congenital hypothyroidism is a type of congenital hypothyroidism (CH), a thyroid hormone deficiency present from birth. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E03.0|ICD10:E03.1|Orphanet:226292 owl:Class MONDO:0007953 biolink:NamedThing Binder syndrome A rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. tmpaxzxjjyw_mondo_relaxed.owl Binder syndrome|Maxillonasal dysostosis|binder syndrome|maxillonasal dysplasia|binder type maxillonasal dysplasia|MAXILLONASAL dysplasia, BINDER type Orphanet:1248|UMLS:C0220692|DOID:14683|SCTID:715985008|MESH:C536036|OMIM:155050|ICD10:Q75.8|GARD:0006992 owl:Class MONDO:0019259 biolink:NamedThing classic phenylketonuria Classical phenylketonuria is a severe form of phenylketonuria (PKU) an inborn error of amino acid metabolism characterized in untreated patients by severe intellectual deficit and neuropsychiatric complications. tmpaxzxjjyw_mondo_relaxed.owl classic PKU Orphanet:79254|MedDRA:10034875|UMLS:C0751434|ICD10:E70.0 https://github.com/monarch-initiative/mondo/issues/1738 owl:Class UBERON:0034987 biolink:NamedThing lumbar nerve plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001815 biolink:NamedThing lumbosacral nerve plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032907 biolink:NamedThing lymphatic malformation 8 tmpaxzxjjyw_mondo_relaxed.owl LYMPHATIC MALFORMATION 8|LMPHM8 OMIM:618773 owl:Class MONDO:0043267 biolink:NamedThing rheumatoid vasculitis Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ulcers, peripheral gangrene, and mononeuritis multiplex. tmpaxzxjjyw_mondo_relaxed.owl rheumatoid vasculitis|rheumatoid Vasculitides|vasculitis, rheumatoid|Vasculitides, rheumatoid MESH:D056653|GARD:0007577|SCTID:400054000|UMLS:C0240903 owl:Class MONDO:0030703 biolink:NamedThing autoimmune vasculitis An autoimmune form of vasculitis. tmpaxzxjjyw_mondo_relaxed.owl SCTID:427213005|UMLS:C1328843|DOID:0040097 owl:Class MONDO:0006287 biolink:NamedThing malignancy in giant cell tumor of bone A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor). tmpaxzxjjyw_mondo_relaxed.owl Dedifferentiated giant cell tumor|malignancy in giant cell tumor of bone|giant cell bone sarcoma|malignancy in giant cell tumor of the bone|giant cell sarcoma of bone|malignant giant cell tumor of bone|bone giant cell sarcoma|giant cell tumor of bone, malignant (morphologic abnormality)|giant cell tumor of bone, malignant|OSTEOCLASTOMA, malignant|giant cell sarcoma of the bone ICDO:9250/3|DOID:4719|NCIT:C4304|UMLS:C0334552|EFO:1000347 owl:Class MONDO:0002021 biolink:NamedThing gingival disorder A disease involving the gingiva. tmpaxzxjjyw_mondo_relaxed.owl gingiva disease or disorder|gingiva disease|disease or disorder of gingiva|disease of gingiva|disorder of gingiva UMLS:C0017563|MESH:D005882|DOID:1483|SCTID:18718003 owl:Class MONDO:0006908 biolink:NamedThing pituitary apoplexy A rare, potentially life-threatening disorder caused by acute ischemic infarction or hemorrhage in the pituitary gland. It is most often associated with the presence of a pituitary gland adenoma. Signs and symptoms include headache, vomiting, visual disturbances, and endocrine dysfunction. tmpaxzxjjyw_mondo_relaxed.owl pituitary gland apoplexy NCIT:C26853|ICD9:253.8|ICD10:E23.6|SCTID:237701005|Orphanet:95613|MedDRA:10056447|MESH:D010899|DOID:1129|EFO:1001108|UMLS:C0032001 owl:Class MONDO:0001259 biolink:NamedThing pituitary gland infarction Ischemic necrosis of the pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl pituitary infarction|pituitary gland infarction|pituitary infarct ICD9:253.8|NCIT:C27117|DOID:1130|SCTID:95830009|UMLS:C0342405 owl:Class MONDO:0012842 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 7 tmpaxzxjjyw_mondo_relaxed.owl CMM7|melanoma, cutaneous malignant, susceptibility to, 7 OMIM:612263 owl:Class MONDO:0018961 biolink:NamedThing familial melanoma Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family. tmpaxzxjjyw_mondo_relaxed.owl hereditary melanoma (disease) ICD10:C43.8|DOID:6846|OMIM:155700|OMIM:613972|ICD10:C43.6|OMIM:615134|GARD:0003460|OMIM:155601|ICD10:C43.1|ICD10:C43.7|Orphanet:618|OMIM:613099|OMIM:155600|UMLS:C2314896|NCIT:C8498|ICD10:C43.2|ICD10:C43.4|OMIM:608035|ICD10:C43.0|OMIM:609048|ICD10:C43.5|OMIM:615848|ICD10:C43.3 owl:Class MONDO:0024275 biolink:NamedThing amebic dysentery Dysentery caused by intestinal amebic infection, chiefly with entamoeba histolytica. This condition may be associated with amebic infection of the liver and other distant sites. tmpaxzxjjyw_mondo_relaxed.owl Entamoebiases, intestinal|intestinal Amoebiases|amebic colitis|amebic colitides|amoebiases, intestinal|intestinal amebiasis|intestinal Amebiases|amoebic dysenteries|amoebic dysentery|Amebiases, intestinal|amoebiasis, intestinal|colitis, amebic|entamoebiasis, intestinal|amoebic Colitides|amoebic dysentery due to Entamoeba histolytica|Colitides, amebic|intestinal amoebiasis|amebic dysenteries|dysenteries, amoebic|amoebic colitis|intestinal Entamoebiases|amebic dysentery|amebiasis, intestinal|amoebiasis due to Entamoeba histolytica|Colitides, amoebic|intestinal entamoebiasis|dysenteries, amebic|colitis, amoebic|dysentery, amoebic GARD:0000652|NCIT:C34558|MESH:D004404 owl:Class MONDO:0005644 biolink:NamedThing amebiasis A parasitic infectious disorder caused by amoebas. The parasite may cause colitis which is manifested with bloody diarrhea, abdominal pain, nausea and fever. In rare cases it may spread to the liver, brain and lungs. tmpaxzxjjyw_mondo_relaxed.owl amoebiasis|chronic intestinal amebiasis|entamoebiasis ICD9:006.9|DOID:9181|ICD10:A06.9|UMLS:C0002438|MESH:D000562|NCIT:C84551|ICD10:A06|ICD9:006|EFO:0007144 owl:Class MONDO:0001906 biolink:NamedThing posterior dislocation of lens tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155373|ICD10:H27.13|ICD9:379.34|DOID:14199|SCTID:14169000 May be obsoleted as it represents a finding; TODO add HPO class owl:Class MONDO:0001176 biolink:NamedThing lens disorder A disease involving the lens of camera-type eye. tmpaxzxjjyw_mondo_relaxed.owl lens of camera-type eye disease or disorder|lens disorder|lens of camera-type eye disease|disorder of lens of camera-type eye|disease or disorder of lens of camera-type eye|disease of lens of camera-type eye MESH:D007905|ICD10:H27.9|NCIT:C26812|UMLS:C0023308|DOID:110|SCTID:10810001|ICD10:H25-H28|ICD9:379.39 Includes cataracts, lens subluxation and aphakia owl:Class MONDO:0003578 biolink:NamedThing extragonadal nonseminomatous germ cell tumor A malignant non-seminomatous germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary. tmpaxzxjjyw_mondo_relaxed.owl extragonadal non-seminomatous germ cell cancer|malignant neoplasm of extragonadal non-seminomatous germ cell|primary malignant extragonadal Nonseminoma|extragonadal primary Nonseminoma|malignant extragonadal non-seminomatous germ cell tumor|malignant neoplasm of the extragonadal non-seminomatous germ cell|malignant tumor of extragonadal non-seminomatous germ cell|malignant extragonadal non-seminomatous germ cell neoplasm|cancer of extragonadal non-seminomatous germ cell|malignant extragonadal Nonseminoma|cancer of the extragonadal non-seminomatous germ cell|malignant tumor of the extragonadal non-seminomatous germ cell NCIT:C8885|UMLS:C1334582|DOID:5677 owl:Class UBERON:0003552 biolink:NamedThing telencephalon pia mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003011 biolink:NamedThing mucinous tubular and spindle renal cell carcinoma A low grade carcinoma of the kidney characterized by the presence of tubules which are separated by mucinous stroma. Often the tubular structures have a spindle cell appearance. Patients are usually asymptomatic and occasionally they may present with hematuria or flank pain. tmpaxzxjjyw_mondo_relaxed.owl mucinous tubular and spindle cell renal carcinoma|carcinoma, renal, tubular, malignant|mucinous tubular and spindle cell carcinoma of the kidney|renal mucinous tubular spindle cell carcinoma NCIT:C39807|ICDO:0000/0|ONCOTREE:MTSCC|ICD10:C64|UMLS:C1513719|SCTID:764990003|DOID:4472|Orphanet:319322|UMLS:CN203939 owl:Class MONDO:0021698 biolink:NamedThing alcohol-related disorders Disorders related to or resulting from abuse or mis-use of alcohol. tmpaxzxjjyw_mondo_relaxed.owl alcohol related disorders|disorder, alcohol-related|alcohol-related disorder|disorders, alcohol-related MESH:D019973|SCTID:29212009 owl:Class MONDO:0016512 biolink:NamedThing Kabuki syndrome Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. tmpaxzxjjyw_mondo_relaxed.owl Kabuki make up syndrome|KMS|Kabuki make-up syndrome|Niikawa-Kuroki syndrome|NKS NCIT:C124837|UMLS:C0796004|ICD10:Q87.0|GARD:0006810|OMIM:147920|SCTID:313426007|OMIMPS:147920|MESH:C537705|Orphanet:2322|MedDRA:10063935|OMIM:300867|DOID:0060473 owl:Class MONDO:0020161 biolink:NamedThing congenital ectropion tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q10.1|SCTID:26590002|Orphanet:98570 owl:Class UBERON:0010533 biolink:NamedThing metanephros cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021368 biolink:NamedThing neoplasm of major salivary gland A neoplasm (disease) that involves the major salivary gland. tmpaxzxjjyw_mondo_relaxed.owl major salivary gland tumor|tumor of the Major salivary gland|major salivary gland neoplasm|tumor of major salivary gland|neoplasm of major salivary gland|neoplasm of the Major salivary gland|tumor of Major salivary gland|major salivary gland neoplasm (disease) NCIT:C4407|SCTID:126787005|UMLS:C0345599 owl:Class MONDO:0001566 biolink:NamedThing hypercalcemia disease Abnormally high concentration of calcium in the peripheral blood. tmpaxzxjjyw_mondo_relaxed.owl hypercalcemia DOID:12678|ICD9:275.42|MESH:D006934|NCIT:C3112|SCTID:66931009|UMLS:C0020437|ICD10:E83.52|HP:0003072 owl:Class MONDO:0016402 biolink:NamedThing mitochondrial disease with epilepsy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN201331|Orphanet:225700 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class GO:0007249 biolink:NamedThing I-kappaB kinase/NF-kappaB signaling The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. tmpaxzxjjyw_mondo_relaxed.owl activation of the inhibitor of kappa kinase|I-kappaB kinase/NF-kappaB signal transduction|canonical NF-kappaB signaling cascade|I-kappaB kinase/NF-kappaB cascade|NF-kappaB cascade|p50-dependent NF-kappaB signaling owl:Class GO:0035556 biolink:NamedThing intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. tmpaxzxjjyw_mondo_relaxed.owl intracellular protein kinase cascade|signal transmission via intracellular cascade|intracellular signaling chain|intracellular signal transduction pathway|signal transduction via intracellular signaling cascade|protein kinase cascade|intracellular signaling cascade|intracellular signaling pathway owl:Class MONDO:0020177 biolink:NamedThing pigmented palpebral tumor tmpaxzxjjyw_mondo_relaxed.owl pigmented eyelid tumor|pigmented palpebral neoplasm Orphanet:98586|UMLS:CN207037 owl:Class OBO:CARO_0000006 biolink:NamedThing material anatomical entity tmpaxzxjjyw_mondo_relaxed.owl owl:Class BFO:0000040 biolink:NamedThing material entity An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time. tmpaxzxjjyw_mondo_relaxed.owl MaterialEntity material BFO 2 Reference: Object, Fiat Object Part and Object Aggregate are not intended to be exhaustive of Material Entity. Users are invited to propose new subcategories of Material Entity.|BFO 2 Reference: Material entities (continuants) can preserve their identity even while gaining and losing material parts. Continuants are contrasted with occurrents, which unfold themselves in successive temporal parts or phases [60|BFO 2 Reference: ‘Matter’ is intended to encompass both mass and energy (we will address the ontological treatment of portions of energy in a later version of BFO). A portion of matter is anything that includes elementary particles among its proper or improper parts: quarks and leptons, including electrons, as the smallest particles thus far discovered; baryons (including protons and neutrons) at a higher level of granularity; atoms and molecules at still higher levels, forming the cells, organs, organisms and other material entities studied by biologists, the portions of rock studied by geologists, the fossils studied by paleontologists, and so on.Material entities are three-dimensional entities (entities extended in three spatial dimensions), as contrasted with the processes in which they participate, which are four-dimensional entities (entities extended also along the dimension of time).According to the FMA, material entities may have immaterial entities as parts – including the entities identified below as sites; for example the interior (or ‘lumen’) of your small intestine is a part of your body. BFO 2.0 embodies a decision to follow the FMA here. A material entity is an independent continuant that has some portion of matter as proper or improper continuant part. (axiom label in BFO2 Reference: [019-002]) a forest fire|an energy wave|the undetached arm of a human being|an epidemic|a tornado|a sea wave|a photon|a human being|a flame|an aggregate of human beings.|a puff of smoke|a hurricane (forall (x) (if (MaterialEntity x) (IndependentContinuant x))) // axiom label in BFO2 CLIF: [019-002] |(forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt y x t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [020-002] |(forall (x) (if (and (Entity x) (exists (y t) (and (MaterialEntity y) (continuantPartOfAt x y t)))) (MaterialEntity x))) // axiom label in BFO2 CLIF: [021-002] Every entity which has a material entity as continuant part is a material entity. (axiom label in BFO2 Reference: [020-002])|every entity of which a material entity is continuant part is also a material entity. (axiom label in BFO2 Reference: [021-002]) owl:Class GO:2001151 biolink:NamedThing regulation of renal water transport Any process that modulates the frequency, rate or extent of renal water transport. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001541 biolink:NamedThing Ascites Accumulation of fluid in the peritoneal cavity. tmpaxzxjjyw_mondo_relaxed.owl Accumulation of fluid in the abdomen MSH:D001201|SNOMEDCT_US:389026000|UMLS:C0003962 Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. human_phenotype owl:Class HP:0001438 biolink:NamedThing Abnormal abdomen morphology A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of abdomen structure|Abnormality of the abdomen|Abdomen abnormality|Abnormality of abdomen morphology UMLS:C4020869 human_phenotype owl:Class MONDO:0011228 biolink:NamedThing creases, infra-auricular cutaneous, with tall stature and advanced bone age tmpaxzxjjyw_mondo_relaxed.owl creases, infra-auricular cutaneous, with tall stature and advanced bone age UMLS:C1865360|MESH:C566543|OMIM:602472 owl:Class MONDO:0010781 biolink:NamedThing ataxia and polyneuropathy, adult-onset tmpaxzxjjyw_mondo_relaxed.owl DOID:0111750|UMLS:C1838916|MESH:C564020|OMIM:500010 owl:Class MONDO:0016563 biolink:NamedThing progressive supranuclear palsy-corticobasal syndrome PSP-corticobasal syndrome (PSP-CBS) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. tmpaxzxjjyw_mondo_relaxed.owl PSP-CBS|PSP-corticobasal syndrome UMLS:CN201681|ICD10:G23.1|Orphanet:240103 owl:Class MONDO:0018851 biolink:NamedThing familial keratoacanthoma Multiple familial keratoacanthoma (KA) of Witten and Zak is a rare a rare inherited skin cancer syndrome and is characterized by the coexistence of features characteristic of both multiple KA, Ferguson Smith type and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl hereditary keratoacanthoma|multiple keratoacanthoma SCTID:716774008|ICD10:L85.8|Orphanet:493|UMLS:CN227546 Editor note: consider adding subtypes owl:Class MONDO:0002527 biolink:NamedThing keratoacanthoma A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It represents a proliferation of the infundibular epithelium of the hair follicle and its morphologic distinction from a well differentiated carcinoma may be difficult or impossible. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously. It has been suggested that keratoacanthoma represents a distinct subtype of squamous cell carcinoma of the skin. tmpaxzxjjyw_mondo_relaxed.owl SCTID:254662007|DOID:3149|NCIT:C3146|MESH:D007636|UMLS:C0022572|ICDO:8071/1 owl:Class MONDO:0011855 biolink:NamedThing granular corneal dystrophy type II Type II granular corneal dystrophy (GCDII) is a rare form of stromal corneal dystrophy characterized by irregular-shaped well-demarcated granular deposits in the superficial central corneal stroma, and progressive visual impairment. tmpaxzxjjyw_mondo_relaxed.owl avellino corneal dystrophy|granular-lattice (Avellino) corneal dystrophy|CGD2|combined granular-lattice corneal dystrophies|corneal dystrophy Avellino type|granular-lattice corneal dystrophy|corneal dystrophy, AVELLINO type|granular corneal dystrophy, type 2|combined granular-lattice corneal dystrophy|GCDII|CDA|ACD|granular and lattice corneal dystrophies|GCD2|granular corneal dystrophy type 2|Avellino corneal dystrophy UMLS:C1275685|DOID:0060444|ICD10:H18.5|GARD:0009278|ICD9:371.56|SCTID:397568004|OMIM:607541|Orphanet:98963|MESH:C535474 owl:Class MONDO:0008564 biolink:NamedThing DiGeorge syndrome A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly. tmpaxzxjjyw_mondo_relaxed.owl VCF|22q deletion syndrome(s)|Sphrintzen|Shprintzen syndrome|velocardiofacial syndrome|DGS|chromosome 22Q11.2 deletion syndrome|DiGeorge anomaly|DiGeorge syndrome|DGS1|hypoplasia of thymus and parathyroids|Takao VCF syndrome|Catch22|velo-cardio-facial syndrome|pharyngeal pouch syndrome|DiGeorge syndrome chromosome region|DiGeorge syndrome type 1|DiGeorge's syndrome|22q11.2 Deletion syndrome|Di-George syndrome|third and fourth pharyngeal pouch syndrome UMLS:CN734570|MESH:D004062|ICD9:279.11|GTR:AN1145678|OMIM:188400|ICD10:D82.1|Orphanet:567|DOID:11198|NCIT:C2989|SCTID:77128003 owl:Class NCBITaxon:777 biolink:NamedThing Coxiella burnetii tmpaxzxjjyw_mondo_relaxed.owl Rickettsia burneti|Rickettsia diaporica GC_ID:11|PMID:9226923 ncbi_taxonomy owl:Class MONDO:0016611 biolink:NamedThing lipoblastoma A lipoma usually occurring in the extremities of young children (usually boys). It is characterized by lobules of adipose tissue, separated by fibrous septa. The adipose tissue is composed of mature adipocytes and lipoblasts. The lipoblasts may be scarce, depending on the age of the patient. tmpaxzxjjyw_mondo_relaxed.owl embryonic lipoma|fetal lipoma|infantile lipoma Orphanet:247762|GARD:0012015|MESH:D062689|SCTID:400102008|NCIT:C27483|UMLS:C1260965 https://rarediseases.info.nih.gov/diseases/12015/lipoblastoma owl:Class GO:0061620 biolink:NamedThing glycolytic process through glucose-6-phosphate The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, occurring through a glucose-6-phosphate intermediate, with the concomitant production of a small amount of ATP. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0061615 biolink:NamedThing glycolytic process through fructose-6-phosphate The chemical reactions and pathways resulting in the breakdown of a monosaccharide into pyruvate, occurring through a fructose-6-phosphate intermediate, with the concomitant production of ATP and NADH. tmpaxzxjjyw_mondo_relaxed.owl glycolysis through fructose-6-phosphate owl:Class HGNC:18145 biolink:NamedThing PHF6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21862 biolink:NamedThing DYNC2I1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:811 biolink:NamedThing ATP2A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003550 biolink:NamedThing esophageal adenosquamous carcinoma An esophageal carcinoma characterized by the presence of distinguishable squamous and glandular carcinomatous components. tmpaxzxjjyw_mondo_relaxed.owl esophageal adenosquamous cancer|esophageal adenosquamous carcinoma|esophagus adenosquamous carcinoma DOID:5625|UMLS:C2063886|NCIT:C27421 owl:Class MONDO:0005580 biolink:NamedThing esophageal squamous cell carcinoma Esophageal squamous cell carcinoma (ESCC) is a type of esophageal carcinoma (EC) that can affect any part of the esophagus, but is usually located in the upper or middle third. tmpaxzxjjyw_mondo_relaxed.owl scc of esophagus|esophagus scc|squamous cell car. - esophagus|esophageal squamous cell cancer|scc of the esophagus|esophageal epidermoid carcinoma|ESCC|esophageal squamous cell carcinoma|esophageal scc|squamous cell carcinoma of esophagus|squamous cell carcinoma of the esophagus|esophagus squamous cell carcinoma SCTID:276804009|ONCOTREE:ESCC|DOID:5041|Orphanet:99977|SCTID:372138000|OMIM:133239|MESH:C562729|ICD10:C15.4|UMLS:C0279626|EFO:0005922|ICD10:C15.0|NCIT:C4024|DOID:3748|ICD10:C15.1|ICD10:C15.3 owl:Class NCBITaxon:186817 biolink:NamedThing Bacillaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class GO:0051931 biolink:NamedThing regulation of sensory perception Any process that modulates the frequency, rate or extent of sensory perception, the series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005136 biolink:NamedThing metanephric glomerular endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005135 biolink:NamedThing metanephric glomerular epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012155 biolink:NamedThing choanal atresia Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction. tmpaxzxjjyw_mondo_relaxed.owl choanal atresia, POSTERIOR|imperforate nares|atresia of nares|posterior choanal atresia|PCA DOID:9574|SCTID:204508009|MedDRA:10008587|ICD10:Q30.0|MESH:D002754|Orphanet:137914|OMIM:608911|ICD9:748.0 owl:Class UBERON:0036225 biolink:NamedThing respiratory system gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000257 biolink:NamedThing regulation of protein activation cascade Any process that modulates the frequency, rate or extent of protein activation cascade. tmpaxzxjjyw_mondo_relaxed.owl regulation of protein activitory cascade|regulation of protein activation pathway owl:Class GO:0051246 biolink:NamedThing regulation of protein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein. tmpaxzxjjyw_mondo_relaxed.owl regulation of protein metabolism owl:Class UBERON:0008870 biolink:NamedThing pulmonary alveolar parenchyma tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018515 biolink:NamedThing squamous cell carcinoma of rectum A very rare rectal carcinoma characterized by the presence of a malignant squamous cell infiltrate. tmpaxzxjjyw_mondo_relaxed.owl rectal squamous cell carcinoma|squamous cell carcinoma of rectum|rectal squamous carcinoma|rectal squamous cell cancer|squamous carcinoma of rectum|rectum squamous cell carcinoma|squamous carcinoma of the rectum|squamous cell carcinoma of the rectum UMLS:C1335690|SCTID:766979005|DOID:5528|Orphanet:424002|ICD10:C20|NCIT:C5554 owl:Class MONDO:0006165 biolink:NamedThing colorectal squamous cell carcinoma A very rare colorectal carcinoma characterized by the presence of a malignant squamous cell infiltrate. tmpaxzxjjyw_mondo_relaxed.owl colorectal (colon or rectal) squamous cell cancer|colorectum squamous cell carcinoma|colorectal squamous cell carcinoma|colorectal squamous cell cancer UMLS:C1707442|EFO:1000198|NCIT:C43588 owl:Class MONDO:0014073 biolink:NamedThing dilated cardiomyopathy 1II Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene. tmpaxzxjjyw_mondo_relaxed.owl CMD1II|cardiomyopathy, dilated, type 1II|familial isolated dilated cardiomyopathy caused by mutation in CRYAB|dilated cardiomyopathy type 1II|cardiomyopathy, dilated, 1II|CRYAB familial isolated dilated cardiomyopathy UMLS:C3554649|DOID:0110450|OMIM:615184|ICD10:I42.0 owl:Class MONDO:0009988 biolink:NamedThing retinoschisis of fovea tmpaxzxjjyw_mondo_relaxed.owl familial foveal retinoschisis|foveal retinoschisis|retinoschisis of fovea MESH:C538369|UMLS:C1849397|OMIM:268080|GARD:0009143 https://rarediseases.info.nih.gov/diseases/9143/retinoschisis-of-fovea owl:Class MONDO:0007452 biolink:NamedThing maturity-onset diabetes of the young type 1 Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha. tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus MODY type 1|maturity onset diabetes of the Young, type 1|hepatocyte nuclear Factor 4-Alpha associated monogenic diabetes|maturity-onset diabetes of the young, type 1|mild juvenile diabetes mellitus|MODY HNF4A related|MODY1|diabetes mellitus type 2|HNF4A-associated monogenic diabetes|MODY type 1|type 1 maturity-onset diabetes of the young|MODY, type 1 Orphanet:552|MESH:C565101|SCTID:609562003|DOID:0111099|UMLS:C1852093|OMIM:125850|NCIT:C129744|GARD:0003418 https://rarediseases.info.nih.gov/diseases/3418/maturity-onset-diabetes-of-the-young-type-1 owl:Class MONDO:0024343 biolink:NamedThing pityriasis simplex tmpaxzxjjyw_mondo_relaxed.owl pityriasis simplex|dandruff|furfuracea ICD9:690.18|SCTID:200767005 owl:Class MONDO:0017087 biolink:NamedThing neurenteric cyst tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268865 owl:Class OBO:CHR_9606-chr1p32-p31 biolink:NamedThing 1p32-p31 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0010351 biolink:NamedThing Fanconi anemia complementation group B Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B. tmpaxzxjjyw_mondo_relaxed.owl Fanconi anemia complementation group B|Fanconi anemia complementation group type B|Fanconi pancytopenia, type 2|FANCB|Fanconi Anemia, complementation group type B|FA2|FACB|Fanconi pancytopenia type 2|Fanconi anemia, complementation group B UMLS:C1845292|DOID:0111098|OMIM:300514|NCIT:C125703|Orphanet:84|MESH:C564497 owl:Class MONDO:0012714 biolink:NamedThing early-onset myopathy with fatal cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl EOMFC|SALMY|Salih myopathy|myopathy, early-onset, with fatal cardiomyopathy MESH:C567129|SCTID:702343002|UMLS:C2673677|OMIM:611705|ICD10:G71.8|Orphanet:289377 owl:Class UBERON:0003521 biolink:NamedThing pes blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008303 biolink:NamedThing familial male-limited precocious puberty Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. tmpaxzxjjyw_mondo_relaxed.owl precocious puberty, male limited|familial Testotoxicosis (subtype)|testotoxicosis, familial|sexual precocity, familial, gonadotropin-independent|precocious puberty, male-limited|LHCGR peripheral precocious puberty|familial gonadotropin-independent male-limited sexual precocity|Leydig cell adenoma, somatic, with male-limited precocious puberty|FMPP|peripheral precocious puberty caused by mutation in LHCGR|male-limited precocious puberty|testotoxicosis|pubertas praecox OMIM:176410|SCTID:237818003|ICD10:E30.1|Orphanet:3000|GARD:0004475|MedDRA:10063654|UMLS:C1504412|DOID:0111545|MedDRA:10063656 owl:Class MONDO:0015791 biolink:NamedThing peripheral precocious puberty Precocious puberty caused by sex hormones. tmpaxzxjjyw_mondo_relaxed.owl GIPP|gonadotropin independent precocious puberty|precocious pseudopuberty|gonadotropin-independent precocious puberty SCTID:736606009|ICD10:E30.1|Orphanet:178040 owl:Class GO:0003039 biolink:NamedThing detection of reduced oxygen by carotid body chemoreceptor signaling The process in which information about the levels of oxygen are received and are converted to a molecular signal by chemoreceptors in a carotid body. tmpaxzxjjyw_mondo_relaxed.owl detection of reduced oxygen by carotid body chemoreceptor signalling owl:Class GO:0003020 biolink:NamedThing detection of reduced oxygen by chemoreceptor signaling The process in which information about the levels of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies and the aortic bodies. tmpaxzxjjyw_mondo_relaxed.owl detection of reduced oxygen by chemoreceptor signalling owl:Class MONDO:0009465 biolink:NamedThing multiple intestinal atresia A rare form of intestinal atresia characterized by the presence of numerous atresic segments in the small bowel (duodenum) or large bowel and leading to symptoms of intestinal obstruction: vomiting, abdominal bloating and inability to pass meconium in newborns. tmpaxzxjjyw_mondo_relaxed.owl gastrointestinal defects and immunodeficiency syndrome|GIDID|intestinal atresia, multiple and/or inflammatory bowel disease with or without immunodeficiency|combined immunodeficiency-enteropathy spectrum|multiple gastrointestinal atresias|intestinal atresia multiple|CID-MIA/early-onset IBD|multiple intestinal atresia|intestinal atresia, multiple|familial intestinal polyatresia syndrome ICD9:751.8|ICD10:Q82.8|OMIM:243150|GARD:0003013|MedDRA:10028210|DOID:14671|SCTID:95472001|ICD10:Q43.8|MESH:C562441|Orphanet:2300 https://rarediseases.info.nih.gov/diseases/3013/intestinal-atresia-multiple owl:Class CL:0002536 biolink:NamedThing epithelial cell of amnion An epithelial cell that is part of the amnion. tmpaxzxjjyw_mondo_relaxed.owl amniotic epithelial cell tmeehan 2011-02-28T12:38:01Z cell owl:Class MONDO:0018567 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation tmpaxzxjjyw_mondo_relaxed.owl CMT2 due to TFG mutation ICD10:G60.0|OMIM:604484|Orphanet:435819|UMLS:CN237576 owl:Class MONDO:0001506 biolink:NamedThing prostatocystitis tmpaxzxjjyw_mondo_relaxed.owl DOID:12355|SCTID:67685000|ICD9:601.3|ICD10:N41.3|UMLS:C0156291 owl:Class MONDO:0023483 biolink:NamedThing infectious myositis An infectious process affecting the skeletal muscles. It can be caused by viruses (including HIV), bacteria, fungi, and parasites. Symptoms include muscle weakness and muscle pain. tmpaxzxjjyw_mondo_relaxed.owl infective myositis|infectious myositis SCTID:29689003|GARD:0009131|ICD9:728.0|NCIT:C26984 https://rarediseases.info.nih.gov/diseases/9131/infective-myositis owl:Class GO:0042487 biolink:NamedThing regulation of odontogenesis of dentin-containing tooth Any process that modulates the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. tmpaxzxjjyw_mondo_relaxed.owl regulation of odontogenesis of dentine-containing teeth|regulation of odontogenesis of dentine-containing tooth owl:Class MONDO:0003007 biolink:NamedThing childhood kidney cell carcinoma A renal cell carcinoma that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric renal cell carcinoma (disease)|childhood renal cell carcinoma|renal cell cancer|childhood kidney cell carcinoma|pediatric kidney cell carcinoma|childhood renal cell carcinoma (disease)|renal cell carcinoma (disease) of childhood|pediatric renal cell carcinoma NCIT:C6568|DOID:4454|UMLS:C1333001 owl:Class MONDO:0002924 biolink:NamedThing smooth muscle cancer A malignant neoplasm arising from smooth muscle. tmpaxzxjjyw_mondo_relaxed.owl smooth muscle cancer|cancer of the smooth muscle|malignant neoplasm of smooth muscle|malignant tumor of the smooth muscle|malignant neoplasm of the smooth muscle|malignant smooth muscle neoplasm|cancer of smooth muscle|malignant smooth muscle tumor|malignant tumor of smooth muscle UMLS:C1334620|NCIT:C6511|DOID:4230 owl:Class MONDO:0004021 biolink:NamedThing mediastinal malignant lymphoma A lymphoma that arises from the mediastinum. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma. tmpaxzxjjyw_mondo_relaxed.owl mediastinal lymphoma|primary mediastinal lymphoma|lymphoma of the mediastinum|lymphoma of mediastinum|mediastinum lymphoma|mediastinal malignant lymphoma DOID:6868|NCIT:C6633|UMLS:C1334665 owl:Class MONDO:0005843 biolink:NamedThing mediastinal cancer A malignant neoplasm involving the mediastinum tmpaxzxjjyw_mondo_relaxed.owl mediastinum cancer|malignant neoplasm of the mediastinum|mediastinal cancer|tumour of mediastinum|cancer of the mediastinum|malignant tumor of mediastinum|mediastinal tumor|malignant tumor of the mediastinum|malignant mediastinum neoplasm|malignant mediastinal tumor|cancer of mediastinum|malignant neoplasm of mediastinum|malignant mediastinal neoplasm MESH:D008479|NCIT:C3549|SCTID:363494000|DOID:5559|SCTID:126725000|EFO:0007362|NCIT:C3221|ICD9:164.9|ICD10:C38.3 owl:Class MONDO:0019893 biolink:NamedThing distal monosomy 19p13.3 Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). tmpaxzxjjyw_mondo_relaxed.owl telomeric deletion 19p|distal deletion 19p ICD10:Q93.5|Orphanet:96129 owl:Class MONDO:0016897 biolink:NamedThing partial deletion of the short arm of chromosome 19 tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome 19p|partial deletion of the short arm of chromosome type 19|partial monosomy of the short arm of chromosome 19|partial monosomy of chromosome 19p Orphanet:261983|ICD10:Q93.5 owl:Class GO:0032091 biolink:NamedThing negative regulation of protein binding Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. tmpaxzxjjyw_mondo_relaxed.owl inhibition of protein binding|down regulation of protein binding|down-regulation of protein binding|downregulation of protein binding owl:Class CL:1000311 biolink:NamedThing adipocyte of epicardial fat of left ventricle A fat cell that is part of the epicardial fat of left ventricle. tmpaxzxjjyw_mondo_relaxed.owl epicardial fat cell of left ventricle|epicardial adipocyte of left ventricle FMA:261300 cell owl:Class GO:1903524 biolink:NamedThing positive regulation of blood circulation Any process that activates or increases the frequency, rate or extent of blood circulation. tmpaxzxjjyw_mondo_relaxed.owl activation of blood circulation|up regulation of hemolymph circulation|upregulation of blood circulation|up regulation of blood circulation|up-regulation of blood circulation|up-regulation of hemolymph circulation|activation of hemolymph circulation|upregulation of hemolymph circulation|positive regulation of hemolymph circulation owl:Class MONDO:0017667 biolink:NamedThing isolated diffuse palmoplantar keratoderma A diffuse palmoplantar keratoderma that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl isolated diffuse PPK|isolated diffuse palmoplantar hyperkeratosis|nonsyndromic diffuse palmoplantar keratoderma|isolated diffuse keratosis palmoplantaris ICD10:Q82.8|UMLS:C0022584|Orphanet:307148 owl:Class OBO:CHR_9606-chr1 biolink:NamedThing chromosome 1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 1 248956422 0 hg38 owl:Class MONDO:0011659 biolink:NamedThing heterotaxy, visceral, 3, autosomal tmpaxzxjjyw_mondo_relaxed.owl heterotaxy, visceral, 3, autosomal|HTX3 Orphanet:450|MESH:C565237|OMIM:606325|UMLS:C1853444 owl:Class MONDO:0001220 biolink:NamedThing hypoparathyroidism Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms includeabdominal pain, brittle nails, cataracts, dry hair and skin,muscle cramps,tetany, pain in the face, legs, and feet, seizures, tingling sensation,and weakened tooth enamel (in children). It may be caused byinjury to the parathyroid glands (e.g., during surgery). Other causes, include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. tmpaxzxjjyw_mondo_relaxed.owl hypoparathyroidism, idiopathic (subtype)|parathyroid, underactivity of NCIT:C78350|GARD:0006733|DOID:11199|ICD10:E20|MESH:D007011|ICD10:E20.9|SCTID:36976004|Orphanet:2238|ICD9:252.1|OMIM:307700|OMIM:146200 https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism owl:Class CL:0002601 biolink:NamedThing uterine smooth muscle cell A smooth muscle cell of the uterus. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T05:53:28Z cell owl:Class MONDO:0001848 biolink:NamedThing Morgagni cataract A form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag. tmpaxzxjjyw_mondo_relaxed.owl hypermature cataract|Morgagnian cataract DOID:13964|UMLS:C0152258|ICD9:366.18|SCTID:264443002 owl:Class MONDO:0045049 biolink:NamedThing hypermature cataract tmpaxzxjjyw_mondo_relaxed.owl hypermature cataract SCTID:267626000|ICD9:366.18 owl:Class CL:1001433 biolink:NamedThing epithelial cell of exocrine pancreas An epithelial cell of the exocrine pancreas. tmpaxzxjjyw_mondo_relaxed.owl exocrine pancreas cell FMA:70986 cell owl:Class MONDO:0018169 biolink:NamedThing morning glory syndrome Morning glory syndrome (MGS) is an optic neuropathy characterized by a congenital funnel shaped excavation of the posterior fundus that incorporates the optic disc malformation (resembling the morning glory flower) MGS is usually unilateral and may result in a decrease in best-corrected visual acuity (BCVA). MGS either occurs isolated or associated to other ocular or non-ocular anomalies. tmpaxzxjjyw_mondo_relaxed.owl Ectasic coloboma|Volubilis syndrome GARD:0013354|OMIM:120430|Orphanet:35737|MedDRA:10027974|ICD10:Q14.2|UMLS:C0549307 https://rarediseases.info.nih.gov/diseases/13354/morning-glory-syndrome owl:Class CL:0002095 biolink:NamedThing hilus cell of ovary A cell in the hilum of the ovary that produces androgens. tmpaxzxjjyw_mondo_relaxed.owl hilar cell of ovary FMA:18710 tmeehan 2010-08-23T11:18:18Z cell owl:Class CL:0000593 biolink:NamedThing androgen secreting cell A steroid hormone secreting cell that secretes androgen. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0017277 biolink:NamedThing partial deletion of chromosome 12 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 12|partial deletion of chromosome type 12 ICD10:Q93.5|Orphanet:282124 owl:Class MONDO:0004717 biolink:NamedThing peliosis hepatis A vascular disease of the liver characterized by the occurrence of multiple blood-filled cysts or cavities. The cysts are lined with endothelial cells; the cavities lined with hepatic parenchymal cells (hepatocytes). Peliosis hepatis has been associated with use of anabolic steroids (anabolic agents) and certain drugs. tmpaxzxjjyw_mondo_relaxed.owl hepatic peliosis DOID:914|UMLS:C0030781|MESH:D010382|EFO:1001387|ICD10:K76.4|SCTID:58008004 owl:Class MONDO:0015653 biolink:NamedThing monogenic epilepsy tmpaxzxjjyw_mondo_relaxed.owl monogenic disease with epilepsy UMLS:CN200063|Orphanet:166472 owl:Class GO:0098856 biolink:NamedThing intestinal lipid absorption Any process in which lipids are taken up from the contents of the intestine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050892 biolink:NamedThing intestinal absorption Any process in which nutrients are taken up from the contents of the intestine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33693 biolink:NamedThing oxygen hydride tmpaxzxjjyw_mondo_relaxed.owl hydrides of oxygen|oxygen hydrides|oxygen hydride owl:Class MONDO:0013853 biolink:NamedThing pontocerebellar hypoplasia type 1B Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3|pontocerebellar hypoplasia, type 1B|pontocerebellar hypoplasia type 1B|PCH1B|EXOSC3 non-syndromic pontocerebellar hypoplasia OMIM:614678|DOID:0060266|UMLS:C3553449|Orphanet:2254 owl:Class MONDO:0016396 biolink:NamedThing pontocerebellar hypoplasia type 1 Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death. tmpaxzxjjyw_mondo_relaxed.owl PCH1|Norman disease|MRT32|mental retardation, autosomal recessive 32 ICD10:Q04.3|Orphanet:2254|OMIM:614678|MESH:C548069|OMIM:607596|SCTID:718610008|UMLS:C1843504|OMIM:616081|GARD:0010704 owl:Class HGNC:12831 biolink:NamedThing XRCC4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5438 biolink:NamedThing IFNG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044646 biolink:NamedThing early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome tmpaxzxjjyw_mondo_relaxed.owl encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum|PEBAT|encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT UMLS:C4310671|Orphanet:496641|OMIM:617193 owl:Class MONDO:0020121 biolink:NamedThing muscular dystrophy Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities. tmpaxzxjjyw_mondo_relaxed.owl OMIM:309950|GARD:0007922|UMLS:C0026850|DOID:9884|OMIM:158800|Orphanet:98473|MESH:D009136|OMIM:310095|OMIM:310000|OMIM:159050|ICD10:G71.0|OMIM:600416|NCIT:C84910|SCTID:73297009|ICD9:359.1|MedDRA:10028356|OMIM:309930 https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy owl:Class MONDO:0009131 biolink:NamedThing Riley-Day syndrome A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system. tmpaxzxjjyw_mondo_relaxed.owl hereditary sensory neuropathy type 3|dysautonomia, familial|familial autonomic nervous dysfunction|neuropathy, hereditary sensory and autonomic, type 3|hereditary sensory and autonomic neuropathy type 3|familial dysautonomia|HSAN III|hereditary sensory and autonomic neuropathy 3|HSAN3|Riley-Day syndrome|HSAN 3|Riley Day syndrome|HSN 3|neuropathy, hereditary sensory and autonomic, type III|hereditary sensory and autonomic neuropathy type III NCIT:C84706|GARD:0007581|MedDRA:10039179|OMIM:223900|ICD10:G90.1|UMLS:C0013364|SCTID:29159009|MESH:D004402|DOID:11589|Orphanet:1764 owl:Class UBERON:0013505 biolink:NamedThing cervical vertebra cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010332 biolink:NamedThing X-linked intellectual disability-cubitus valgus-dysmorphism syndrome An X-linked syndromic intellectual disability characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive. tmpaxzxjjyw_mondo_relaxed.owl cubitus valgus with intellectual disability and unusual facies|cubitus valgus with mental retardation and unusual facies MESH:C564510|ICD10:Q87.8|Orphanet:85280|UMLS:C1845450|OMIM:300471 owl:Class GO:0010823 biolink:NamedThing negative regulation of mitochondrion organization Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of mitochondrion organisation owl:Class GO:0010821 biolink:NamedThing regulation of mitochondrion organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl regulation of mitochondrion organisation owl:Class MONDO:0012434 biolink:NamedThing arrhythmogenic right ventricular dysplasia 10 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene. tmpaxzxjjyw_mondo_relaxed.owl DSG2 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia, familial, type 10|ARVD10|familial arrhythmogenic right ventricular dysplasia 10|arrhythmogenic right ventricular dysplasia 10|arrhythmogenic right ventricular cardiomyopathy 10|arrhythmogenic right ventricular dysplasia type 10|arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2|ARVC10|arrhythmogenic right ventricular dysplasia, familial, 10 ICD10:I42.8|UMLS:C1857777|Orphanet:217656|MESH:C565707|DOID:0110081|OMIM:610193 owl:Class UBERON:0001248 biolink:NamedThing hilum of spleen tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034995 biolink:NamedThing jaw mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011909 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate D Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant intermediate Charcot-Marie-Tooth disease type D|Di-Cmtd|Charcot-Marie-Tooth disease, dominant intermediate D|MPZ-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth neuropathy dominant intermediate D|CMTDID|Charcot-Marie-Tooth disease caused by mutation in MPZ|Charcot-Marie-Tooth neuropathy, dominant Intermediate D|Charcot-Marie-Tooth disease dominant intermediate type D|MPZ Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, dominant Intermediate type D|Charcot Marie Tooth disease dominant intermediate 3|DI-CMTD DOID:0110200|Orphanet:100046|UMLS:C1843075|OMIM:607791|SCTID:765747004|MESH:C564333|GARD:0009207|ICD10:G60.0 owl:Class MONDO:0019548 biolink:NamedThing autosomal dominant intermediate Charcot-Marie-Tooth disease Autosomal dominant form of intermediate Charcot-Marie-Tooth disease. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant intermediate Charcot-Marie-Tooth|CMTDI|autosomal dominant intermediate Charcot-Marie-Tooth disease|intermediate Charcot-Marie-Tooth disease, autosomal dominant GARD:0012436|Orphanet:90114|ICD10:G60.0|UMLS:CN206376 owl:Class MONDO:0012396 biolink:NamedThing exercise-induced hyperinsulinism Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. tmpaxzxjjyw_mondo_relaxed.owl MCT1 hyperinsulinism|hyperinsulinemic hypoglycemia familial 7|HHF7|EIHI|monocarboxylate transporter 1 hyperinsulinism|hyperinsulinemic hypoglycemia exercise-induced|hyperinsulinemic hypoglycemia, familial, type 7|hyperinsulinemic hypoglycemia, exercise-induced|hyperinsulinism due to SLC16A1 deficiency|hyperinsulinism due to monocarboxylate transporter 1 deficiency|exercise induced hyperinsulinemic hypoglycemia|exercise-induced hyperinsulinemic hypoglycemia|hyperinsulinemic hypoglycemia, familial, 7 SCTID:715830008|NCIT:C131839|UMLS:C1864902|OMIM:610021|Orphanet:165991|MESH:C538376|DOID:0070214|GARD:0009932|ICD10:E16.1|UMLS:C1864904 owl:Class MONDO:0000374 biolink:NamedThing bile duct carcinoma in situ A carcinoma in situ involving a bile duct. tmpaxzxjjyw_mondo_relaxed.owl carcinoma in situ of bile duct|bile duct in situ carcinoma|stage 0 bile duct carcinoma DOID:0050613 owl:Class MONDO:0007168 biolink:NamedThing atelosteogenesis type III Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. tmpaxzxjjyw_mondo_relaxed.owl atelosteogenesis type 3|AOIII|Aoiii|atelosteogenesis, type III|AO3|atelosteogenesis, type 3 SCTID:725142004|ICD10:Q78.8|Orphanet:56305|OMIM:108721|GARD:0010608|MESH:C579928 owl:Class MONDO:0005551 biolink:NamedThing eye allergy An allergic disease involving a pathogenic inflammatory response in the camera-type eye. tmpaxzxjjyw_mondo_relaxed.owl EFO:0005751 owl:Class MONDO:0013031 biolink:NamedThing chromosome 5Q14.3 deletion syndrome, distal tmpaxzxjjyw_mondo_relaxed.owl chromosome 5Q14.3 deletion syndrome, distal|periventricular nodular heterotopia 5|heterotopia, periventricular, associated with chromosome 5Q deletion OMIM:612881|MESH:C567876|Orphanet:98892|UMLS:C2752071|Orphanet:2149 owl:Class MONDO:0020341 biolink:NamedThing periventricular nodular heterotopia Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. tmpaxzxjjyw_mondo_relaxed.owl periventricular heterotopia|periventricular nodular heterotopia OMIM:608097|OMIM:615544|OMIM:300049|OMIM:608098|ICD10:Q04.8|SCTID:448227009|UMLS:C1868720|GARD:0012724|DOID:0050454|MedDRA:10066854|OMIMPS:300049|OMIM:617201|OMIM:612881|MESH:D054091|Orphanet:98892 owl:Class MONDO:0019957 biolink:NamedThing PPoma PPoma is a type of pancreatic endocrine tumor that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1). tmpaxzxjjyw_mondo_relaxed.owl pancreatic polypeptide tumor|pancreatic polypeptide neoplasm|pancreatic polypeptidoma ICD10:E16.8|UMLS:CN206879|SCTID:255039001|UMLS:C0346407|UMLS:C1882278|ICDO:8152/1|Orphanet:97278|ICD9:239.89|NCIT:C67453 owl:Class GO:0051588 biolink:NamedThing regulation of neurotransmitter transport Any process that modulates the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002140 biolink:NamedThing vagina sarcoma A malignant mesenchymal neoplasm that arises from the vagina. Representative examples include botryoid-type embryonal rhabdomyosarcoma, leiomyosarcoma, and endometrioid stromal sarcoma. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of the vagina|vaginal sarcoma|sarcoma of vagina|vagina sarcoma UMLS:C0238519|DOID:1901|NCIT:C7737 owl:Class MONDO:0018429 biolink:NamedThing 14q24.1q24.3 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl Del(14)(q24.1q24.3)|monosomy 14q24.1q24.3 Orphanet:401935|UMLS:CN226142|ICD10:Q93.5 owl:Class MONDO:0013425 biolink:NamedThing retinitis pigmentosa 20 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPE65 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa caused by mutation in RPE65|retinitis pigmentosa type 20|retinitis pigmentosa 20|RP 20|RP20|RPE65 retinitis pigmentosa DOID:0110353|HGNC:10294|GARD:0010404|OMIM:613794|UMLS:C3151086|MESH:C566718|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10404/retinitis-pigmentosa-20 owl:Class UBERON:0012283 biolink:NamedThing femoral fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019248 biolink:NamedThing mucolipidosis A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61267|MESH:D009081|Orphanet:79212|UMLS:C0026697|DOID:0080488|SCTID:70528007 owl:Class MONDO:0000831 biolink:NamedThing thrombotic disease The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. tmpaxzxjjyw_mondo_relaxed.owl thrombus|Clots, blood|clot, blood|thrombotic disorder|blood Clots|Thromboses|blood clot|thrombosis ICD9:453.9|SCTID:439127006|NCIT:C26891|MESH:D013927|DOID:0060903 owl:Class CHEBI:39024 biolink:NamedThing clathrate compound Inclusion compound in which the guest molecule is in a cage formed by the host molecule or by a lattice of host molecules. tmpaxzxjjyw_mondo_relaxed.owl clathrate|clatratos|clathrates|clatrato|clathrate compounds|Clathratverbindung|Klathrat|Klathratverbindung|Clathrat|compuesto de clatrato|cage compound owl:Class CHEBI:39022 biolink:NamedThing inclusion compound A complex in which one component (the host) forms a cavity or, in the case of a crystal, a crystal lattice containing spaces in the shape of long tunnels or channels in which molecular entities of a second chemical species (the guest) are located. There is no covalent bonding between guest and host, the attraction being generally due to van der Waals forces. tmpaxzxjjyw_mondo_relaxed.owl inclusion compound|compose d'inclusion|inclusion complex|inclusion compounds|compuestos de inclusion|compuesto de inclusion owl:Class MONDO:0018705 biolink:NamedThing infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome tmpaxzxjjyw_mondo_relaxed.owl ANOAC|axonal neuropathy-optic atrophy-cognitive deficit syndrome Orphanet:457205|UMLS:CN242083 owl:Class CHEBI:37527 biolink:NamedThing acid An acid is a molecular entity capable of donating a hydron (Bronsted acid) or capable of forming a covalent bond with an electron pair (Lewis acid). tmpaxzxjjyw_mondo_relaxed.owl Acid|acid|acido|acide|Saeuren|Saeure|acids owl:Class MONDO:0002799 biolink:NamedThing nodular medulloblastoma A medulloblastoma characterized by nodularity and neuronal differentiation. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334970|DOID:3873|NCIT:C5407 owl:Class IAO:8000019 biolink:NamedThing ontology module subsetted by OWL profile tmpaxzxjjyw_mondo_relaxed.owl ontology module subsetted by OWL profile owl:Class IAO:8000017 biolink:NamedThing ontology module subsetted by expressivity tmpaxzxjjyw_mondo_relaxed.owl ontology module subsetted by expressivity owl:Class MONDO:0030071 biolink:NamedThing retinitis pigmentosa 89 tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 89|RP89|RETINITIS PIGMENTOSA 89 OMIM:618955 owl:Class UBERON:0003571 biolink:NamedThing trachea connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003580 biolink:NamedThing lower respiratory tract connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012173 biolink:NamedThing long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl LCHADD|long chain 3-hydroxyacyl-CoA dehydrogenase deficiency|long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency|long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency|3-hydroxyacyl-CoA dehydrogenase long chain deficiency|trifunctional protein deficiency type 1|LCHAD deficiency|long-chain 3-OH acyl-CoA dehydrogenase deficiency|long-chain 3-hydroxy acyl CoA dehydrogenase deficiency UMLS:C3711645|OMIM:609016|ICD10:E71.3|GARD:0006867|UMLS:CN239369|NCIT:C129929|UMLS:CN074230|Orphanet:5|SCTID:726021008 owl:Class MONDO:0001568 biolink:NamedThing mixed receptive-expressive language disorder A disorder characterized by an impairment in the development of an individual's expressive and receptive language capabilities which is in contrast to his/her nonverbal intellect. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult). tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92563|SCTID:25766007|ICD10:F80.2|DOID:12685|ICD9:315.32 owl:Class MONDO:0025139 biolink:NamedThing white muscle disease A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (fabaceae), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed) tmpaxzxjjyw_mondo_relaxed.owl muscle disease, White|disease, White muscle|diseases, White muscle|White muscle diseases|muscle diseases, White UMLS:C0043153|MESH:D014912 owl:Class MONDO:0024965 biolink:NamedThing muscular dystrophy, non-human animal tmpaxzxjjyw_mondo_relaxed.owl animal muscular dystrophies|dystrophies, animal muscular|animal muscular dystrophy|dystrophy, animal muscular|muscular dystrophies, animal MESH:D009137|UMLS:C0026851 owl:Class MONDO:0014525 biolink:NamedThing combined oxidative phosphorylation defect type 23 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the GTPBP3 gene. tmpaxzxjjyw_mondo_relaxed.owl GTPBP3 combined oxidative phosphorylation deficiency|COXPD23|combined oxidative phosphorylation deficiency type 23|combined oxidative phosphorylation deficiency 23|combined oxidative phosphorylation deficiency caused by mutation in GTPBP3 DOID:0111500|OMIM:616198|Orphanet:444013|UMLS:C4015447|ICD10:I42.2|EFO:0009033 owl:Class UBERON:0005333 biolink:NamedThing mammary bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012252 biolink:NamedThing endocervical epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051057 biolink:NamedThing positive regulation of small GTPase mediated signal transduction Any process that activates or increases the frequency, rate or extent of small GTPase mediated signal transduction. tmpaxzxjjyw_mondo_relaxed.owl up regulation of small GTPase mediated signal transduction|stimulation of small GTPase mediated signal transduction|upregulation of small GTPase mediated signal transduction|positive regulation of small GTPase-mediated signal transduction|up-regulation of small GTPase mediated signal transduction|activation of small GTPase mediated signal transduction owl:Class MONDO:0014572 biolink:NamedThing Lichtenstein-Knorr syndrome tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia 19|progressive autosomal recessive ataxia-deafness syndrome|SCAR19|LIKNS|Lichtenstein-Knorr syndrome|spinocerebellar ataxia, autosomal recessive 19|progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|autosomal recessive spinocerebellar ataxia type 19 DOID:0080065|UMLS:C4225383|ICD10:G11.1|Orphanet:448251|OMIM:616291 owl:Class CHEBI:35106 biolink:NamedThing nitrogen hydride tmpaxzxjjyw_mondo_relaxed.owl nitrogen hydrides owl:Class MONDO:0010635 biolink:NamedThing hypogonadotropic hypogonadism 1 with or without anosmia The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3. tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropic hypogonadism and anosmia|KMS|KAL1|Kallmann syndrome 1|Kallmann syndrome, type 1, X-linked|dysplasia olfactogenitalis of de Morsier|HH1|ANOS1 hypogonadotropic hypogonadism|dysplasia Olfactogenitalis of De Morsier|hypogonadotropic hypogonadism caused by mutation in ANOS1|hypogonadotropic hypogonadism 1 with or without anosmia|anosmic hypogonadism|Kallmann syndrome, X-linked Orphanet:478|OMIM:308700|ICD10:E23.0|NCIT:C75480|GARD:0003071|UMLS:C1563719|DOID:0090094 owl:Class MONDO:0012170 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 36 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene. tmpaxzxjjyw_mondo_relaxed.owl DFNB36|autosomal recessive nonsyndromic deafness caused by mutation in ESPN|autosomal recessive deafness 36|deafness, autosomal recessive 36, with or without vestibular involvement|deafness, autosomal dominant, without vestibular involvement|autosomal recessive nonsyndromic deafness 36|autosomal recessive nonsyndromic deafness type 36|ESPN autosomal recessive nonsyndromic deafness OMIM:609006|DOID:0110494|ICD10:H90.3|MESH:C563815 owl:Class NCBITaxon:1649845 biolink:NamedThing Yersinia pseudotuberculosis complex tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:629 biolink:NamedThing Yersinia tmpaxzxjjyw_mondo_relaxed.owl Yersinia GC_ID:11 ncbi_taxonomy owl:Class MONDO:0015640 biolink:NamedThing benign infantile seizures associated with mild gastroenteritis Benign infantile seizures associated with mild gastroenteritis is a rare infantile epilepsy syndrome characterized by benign afebrile seizures in previously healthy infants and children (age range 1 month to 6 years) with mild acute gastroenteritis without any central nervous system infection, severe dehydration, or electrolyte imbalances. In most cases the seizures are tonic-clonic with focal origin on EEG, occur between day 1 and 6 following onset of acute gastroenteritis, cease within 24 hours and do not persist after the illness. tmpaxzxjjyw_mondo_relaxed.owl SCTID:765756007|Orphanet:166305 owl:Class MONDO:0015642 biolink:NamedThing benign partial infantile seizures tmpaxzxjjyw_mondo_relaxed.owl Orphanet:166311 owl:Class MONDO:0014834 biolink:NamedThing dyskinesia, limb and orofacial, infantile-onset tmpaxzxjjyw_mondo_relaxed.owl dyskinesia, limb and orofacial, infantile-onset; IOLOD|dyskinesia, limb and orofacial, infantile-onset|IOLOD UMLS:C4310792|OMIM:616921 owl:Class CL:1001572 biolink:NamedThing colon endothelial cell A vascular endothelial cell found in colon blood vessels. tmpaxzxjjyw_mondo_relaxed.owl colon endothelial cells|colonic endothelial cell CALOHA:TS-2397 owl:Class HsapDv:0000204 biolink:NamedThing mature stage Human developmental stage that refers to a sexually mature human. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007167 biolink:NamedThing atelosteogenesis type I Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings. tmpaxzxjjyw_mondo_relaxed.owl spondylo-humero-femoral dysplasia|atelosteogenesis, type 1|AOI|spondylohumerofemoral hypoplasia|AO1|atelosteogenesis, type I|giant cell chondrodysplasia|atelosteogenesis type 1 OMIM:108720|GARD:0009287|Orphanet:1190|SCTID:725141006|ICD10:Q78.8|MESH:C535396 owl:Class MONDO:0016381 biolink:NamedThing hypertrichosis lanuginosa congenita Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes. tmpaxzxjjyw_mondo_relaxed.owl hypertrichosis lanuginosa congenita|hypertrichosis universalis|hypertrichosis lanuginosa universalis|congenital hypertrichosis lanuginosa ICD10:Q84.2|OMIM:307150|OMIM:145701|SCTID:201163007|Orphanet:2222|MESH:C538389|OMIM:145700|GARD:0002865 owl:Class MONDO:0019280 biolink:NamedThing hypertrichosis Excessive hair growth anywhere on the body. tmpaxzxjjyw_mondo_relaxed.owl hypertrichosis (disease)|hypertrichosis hypertrichosis (disease) ICD10:L68|UMLS:C0020555|SCTID:29966009|MedDRA:10020864|HP:0000998|ICD10:L68.9|ICD10:L68.3|MESH:D006983|NCIT:C79597|Orphanet:79365|DOID:420 owl:Class GO:0051463 biolink:NamedThing negative regulation of cortisol secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of cortisol from a cell. tmpaxzxjjyw_mondo_relaxed.owl down regulation of cortisol secretion|downregulation of cortisol secretion|inhibition of cortisol secretion|down-regulation of cortisol secretion owl:Class GO:0051462 biolink:NamedThing regulation of cortisol secretion Any process that modulates the frequency, rate or extent of the regulated release of cortisol from a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0042498 biolink:NamedThing Ruzicka-Goerz-Anton syndrome tmpaxzxjjyw_mondo_relaxed.owl Ruzicka Goerz Anton syndrome|ichthyosis deafness intellectual disability skeletal anomalies|ichthyosis deafness mental retardation skeletal anomalies|ichthyosis congenita, neurosensory deafness, oligophrenia, dental aplasia, brachydactyly, clinodactyly, accessory cervical ribs and thyroid carcinoma MESH:C537192|GARD:0000210|UMLS:C2931438 owl:Class UBERON:0002485 biolink:NamedThing prostate duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005129 biolink:NamedThing metanephric distal tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903170 biolink:NamedThing negative regulation of calcium ion transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transport. tmpaxzxjjyw_mondo_relaxed.owl down regulation of calcium ion membrane transport|downregulation of transmembrane calcium transport|inhibition of transmembrane calcium transport|down regulation of calcium ion transmembrane transport|inhibition of calcium ion membrane transport|downregulation of calcium ion membrane transport|down-regulation of calcium ion membrane transport|negative regulation of transmembrane calcium transport|down-regulation of transmembrane calcium transport|downregulation of calcium ion transmembrane transport|inhibition of calcium ion transmembrane transport|down regulation of transmembrane calcium transport|negative regulation of calcium ion membrane transport|down-regulation of calcium ion transmembrane transport owl:Class MONDO:0010673 biolink:NamedThing modifier, X-linked, for Neurofunctional defects tmpaxzxjjyw_mondo_relaxed.owl modifier, X-linked, for Neurofunctional defects|Tourette syndrome, modifier of OMIM:309840|MESH:C564098|UMLS:C1839708 owl:Class MONDO:0013339 biolink:NamedThing dilated cardiomyopathy 1GG Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SDHA gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, type 1Gg|CMD1GG|dilated cardiomyopathy type 1GG|familial isolated dilated cardiomyopathy caused by mutation in SDHA|SDHA familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1GG ICD10:I42.0|DOID:0110435|OMIM:613642|UMLS:C3150898 owl:Class MONDO:0018980 biolink:NamedThing acrofacial dysostosis, Kennedy-Teebi type Acrofacial dysostosis, Kennedy-Teebi type was reported as a new type of acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beakednose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. tmpaxzxjjyw_mondo_relaxed.owl Kennedy-Teebi syndrome ICD10:Q75.4|SCTID:720427009|Orphanet:64542|UMLS:CN205418 owl:Class HP:0003584 biolink:NamedThing Late onset A type of adult onset with onset of symptoms after the age of 60 years. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025592 human_phenotype owl:Class NCBITaxon:31704 biolink:NamedThing Coxsackievirus A16 tmpaxzxjjyw_mondo_relaxed.owl Coxsackie A virus type 16|CV-A16|CVA-16|Coxsackie virus A-16|CVA16|Human enterovirus CVA16|Human coxsackievirus A16 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:138948 biolink:NamedThing Enterovirus A tmpaxzxjjyw_mondo_relaxed.owl Enterovirus EV-A|Human coxsackievirus A|Human enterovirus A|Coxsackievirus A GC_ID:1 NCBITaxon:29269 ncbi_taxonomy owl:Class MONDO:0001760 biolink:NamedThing photokeratitis Injury to the cornea secondary to ultraviolet light. tmpaxzxjjyw_mondo_relaxed.owl ultraviolet keratitis ICD10:H16.13|UMLS:C0155078|SCTID:1714005|DOID:13626|ICD9:370.24|NCIT:C118750 owl:Class MONDO:0008733 biolink:NamedThing familial glucocorticoid deficiency Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. tmpaxzxjjyw_mondo_relaxed.owl GCCD|glucocorticoid deficiency MESH:C565974|OMIM:607398|ICD10:E27.1|DOID:0080620|OMIM:614736|SCTID:765326001|NCIT:C120446|OMIMPS:202200|UMLS:CN204661|Orphanet:361|OMIM:202200|OMIM:609197|OMIM:202355|GARD:0002498 https://rarediseases.info.nih.gov/diseases/2498/familial-glucocorticoid-deficiency owl:Class MONDO:0015129 biolink:NamedThing chronic primary adrenal insufficiency A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones. tmpaxzxjjyw_mondo_relaxed.owl autoimmune Addison disease|autoimmune adrenalitis|autoimmune primary adrenal insufficiency|Addison disease, chronic adrenal insufficiency|primary adrenal insufficiency, chronic|Addison's disease|chronic adrenocorticoid insufficiency|hypoadrenocorticism, familial|Addison disease|primary adrenocortical insufficiency|CPAI|adrenal hypoplasia|adrenal gland hypofunction|classic Addison's disease|primary hypoadrenalism|adrenal aplasia|primary Addison's disease|hypoadrenocorticism familial UMLS:C0271737|OMIM:240200|ICD10:E27.1|MedDRA:10001130|GARD:0005740|OMIM:103230|DOID:13774|NCIT:C113814|ICD9:255.41|SCTID:373662000|NCIT:C26689|Orphanet:101959|Orphanet:85138 https://github.com/monarch-initiative/mondo/issues/1218 owl:Class MONDO:0005406 biolink:NamedThing gestational diabetes Carbohydrate intolerance first diagnosed during pregnancy. tmpaxzxjjyw_mondo_relaxed.owl GDM|maternal gestational diabetes mellitus|gestational diabetes mellitus|diabetes in pregnancy DOID:11714|EFO:0004593|ICD10:O24.4|SCTID:11687002|UMLS:C0085207|NCIT:C34942|MESH:D016640 owl:Class MONDO:0018632 biolink:NamedThing 11q22.2q22.3 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl monosomy 11q22.2q22.3|monosomy 11q22.2-q22.3|Del(11)(q22.2q22.3)|11q22.2-q22.3 deletion syndrome Orphanet:444002|ICD10:Q93.5|UMLS:CN237678 owl:Class GO:0030851 biolink:NamedThing granulocyte differentiation The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. tmpaxzxjjyw_mondo_relaxed.owl granulocyte cell differentiation owl:Class GO:0002573 biolink:NamedThing myeloid leukocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. tmpaxzxjjyw_mondo_relaxed.owl myeloid leucocyte differentiation owl:Class MONDO:0014593 biolink:NamedThing developmental and epileptic encephalopathy, 29 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 29|early infantile epileptic encephalopathy caused by mutation in AARS|DEE29|EIEE29|AARS early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 29 DOID:0080451|UMLS:C4225361|OMIM:616339 owl:Class MONDO:0011399 biolink:NamedThing alpha thalassemia Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles. tmpaxzxjjyw_mondo_relaxed.owl alpha-thalassemia|alpha thalassemia|Alpha thalassaemia|A-thalassemia ICD10:D56.0|ICD9:282.49|DOID:1099|MESH:D017085|ICD9:282.43|Orphanet:846|GARD:0000621|UMLS:C0002312|NCIT:C34368|MedDRA:10043390|SCTID:68913001|OMIM:604131 owl:Class MONDO:0000984 biolink:NamedThing thalassemia An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation. tmpaxzxjjyw_mondo_relaxed.owl sickle-cell thalassemia with crisis|thalassemia Hb-S disease with crisis|sickle-cell thalassemia without crisis|thalassemia Hb-S disease without crisis UMLS:C0039730|MESH:D013789|ICD10:D56.9|EFO:1001996|ICD10:D56|NCIT:C35069|GARD:0007756|ICD9:282.49|ICD9:282.40|SCTID:40108008|DOID:10241|ICD9:282.4 owl:Class UBERON:0001771 biolink:NamedThing pupil tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100193 biolink:NamedThing chronic liver failure Liver failure that develops slowly and gradually for some time, possibly for years, often as the result of cirrhosis, or malnutrition. tmpaxzxjjyw_mondo_relaxed.owl ESLD|end stage liver disease (decompensated liver disease)|end stage liver disease|end-stage liver disease NCIT:C84428 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100192 biolink:NamedThing liver failure A liver disease characterized by the liver losing or has lost all of its function. tmpaxzxjjyw_mondo_relaxed.owl hepatic failure NCIT:C26922 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016365 biolink:NamedThing familial primary hyperparathyroidism An instance of primary hyperparathyroidism (disease) that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary primary hyperparathyroidism (disease) ICD10:E21.0|GARD:0002837|UMLS:CN201220|Orphanet:2207 owl:Class MONDO:0016166 biolink:NamedThing genetic hyperparathyroidism Genetic hyperparathyroidism. tmpaxzxjjyw_mondo_relaxed.owl genetic hyperparathyroidism OMIMPS:145000|OMIM:145000|OMIM:610071|Orphanet:208596|OMIM:145001 owl:Class MONDO:0022399 biolink:NamedThing retinal ciliopathy due to mutation in the RPGR gene tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156171 owl:Class HGNC:34399 biolink:NamedThing UQCC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015749 biolink:NamedThing 6q16 deletion syndrome Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay. tmpaxzxjjyw_mondo_relaxed.owl Prader-Willi-like syndrome due to deletion 6q16|monosomy 6q16|Del(6)(q16) UMLS:CN200301|ICD10:Q93.5|Orphanet:171829 owl:Class MONDO:0018354 biolink:NamedThing Prader-Willi-like syndrome Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities. tmpaxzxjjyw_mondo_relaxed.owl PWS-like UMLS:CN226094|Orphanet:398073|ICD10:Q87.1 owl:Class GO:0010893 biolink:NamedThing positive regulation of steroid biosynthetic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046889 biolink:NamedThing positive regulation of lipid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of lipid formation|upregulation of lipid biosynthetic process|positive regulation of lipid biosynthesis|activation of lipid biosynthetic process|positive regulation of lipid anabolism|positive regulation of lipogenesis|stimulation of lipid biosynthetic process|positive regulation of lipid synthesis|up regulation of lipid biosynthetic process|up-regulation of lipid biosynthetic process owl:Class UBERON:8410019 biolink:NamedThing jejuno-ileal junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008353 biolink:NamedThing pruritic urticarial papules and plaques of pregnancy tmpaxzxjjyw_mondo_relaxed.owl pruritic urticarial papules and plaques of pregnancy|PUPPP|pruritic urticarial papules and plaques of pregnancy, familial (subtype)|pruritic urticarial papules plaques of pregnancy|polymorphic eruption of pregnancy MedDRA:10066100|Orphanet:64745|ICD9:692.9|GARD:0009635|OMIM:178995|MESH:C535817|ICD10:O26.8|SCTID:88697005|ICD9:646.80 owl:Class MONDO:0019101 biolink:NamedThing retinal capillary malformation Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles. tmpaxzxjjyw_mondo_relaxed.owl ICD10:D18.0|Orphanet:71213 owl:Class MONDO:0024296 biolink:NamedThing vascular neoplasm A benign, intermediate, or malignant neoplasm arising from vascular tissue including arteries, veins, venous sinuses, lymphatic vessels, arterioles and capillaries. It may occur in essentially any body location and is characterized by the presence of vascular channel formation and endothelial cells. tmpaxzxjjyw_mondo_relaxed.owl vascular tissue tumor|vascular neoplasm|neoplasm of vascular system|vascular tumor|vascular system neoplasm|vascular tumors|tumor of vascular tissue|tumor of vascular system|vascular tissue neoplasm|vascular system neoplasm (disease)|vascular neoplasms|tumors, vascular|neoplasm of vascular tissue|neoplasms, vascular|vascular system tumor NCIT:C7388 owl:Class HGNC:21144 biolink:NamedThing DSE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010373 biolink:NamedThing premature ovarian failure 2B Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene. tmpaxzxjjyw_mondo_relaxed.owl premature ovarian failure type 2B|POF1B primary ovarian failure|primary ovarian failure caused by mutation in POF1B|POF2B|premature ovarian failure 2B OMIM:300604|UMLS:C1845105|MESH:C564476 owl:Class MONDO:0032835 biolink:NamedThing spondyloepiphyseal dysplasia, nishimura type tmpaxzxjjyw_mondo_relaxed.owl SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE|SEDN OMIM:618618 owl:Class MONDO:0001593 biolink:NamedThing rectal disorder A disease that involves the rectum. tmpaxzxjjyw_mondo_relaxed.owl rectum disease|rectum disease or disorder|rectal disorder|disease or disorder of rectum|disease of rectum|disorder of rectum ICD9:569.49|UMLS:C0034882|DOID:1285|MESH:D012002|SCTID:5964004 owl:Class MONDO:0024548 biolink:NamedThing peeling skin syndrome 1 Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene. tmpaxzxjjyw_mondo_relaxed.owl PSS|CDSN peeling skin syndrome|generalized peeling skin syndrome type B|generalized deciduous skin type B|deciduous skin|peeling skin syndrome caused by mutation in CDSN|keratolysis exfoliativa congenita|skin peeling, familial continuous generalized|PSS type B|PSS1|peeling skin syndrome type B|inflammatory peeling skin syndrome|peeling skin syndrome 1 Orphanet:263553|ICD10:Q80.8|UMLS:C3891449|OMIM:270300|UMLS:CN202306|Orphanet:263543 owl:Class MONDO:0010033 biolink:NamedThing generalized peeling skin syndrome Generalized peeling skin syndrome (PSS) is a form of PSS presenting with a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, associated with pruritus, and atopy. tmpaxzxjjyw_mondo_relaxed.owl PSS1|peeling skin syndrome 1|generalized deciduous skin|peeling skin syndrome type 1|generalized PSS UMLS:C4305156|OMIM:270300|Orphanet:263543|GARD:0012862|Orphanet:263553|UMLS:CN202304|OMIM:616265|ICD10:Q80.8|SCTID:718749004 owl:Class UBERON:0000925 biolink:NamedThing endoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006948 biolink:NamedThing efferent duct epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007661 biolink:NamedThing Tourette syndrome A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen. tmpaxzxjjyw_mondo_relaxed.owl Gilles de la Tourette syndrome|Tourette disorder|GTS|Tourette syndrome|psychogenic tics|Guinon's disease|Tourette's syndrome|motor-verbal tic disorder|Tourette disease|Gilles De 50A Tourette syndrome|chronic motor tics ICD10:F95.2|Orphanet:856|EFO:0004895|DOID:11119|OMIM:137580|SCTID:5158005|NCIT:C35078|MESH:D005879|ICD9:307.23|GARD:0007783 owl:Class MONDO:0010466 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome 2 Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene. tmpaxzxjjyw_mondo_relaxed.owl multiple congenital anomalies-hypotonia-seizures syndrome 2|DEE20|PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability|GPIBD4|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA|glycosylphosphatidylinositol biosynthesis defect 4|developmental and epileptic encephalopathy 20|MCAHS type 2|MCAHS2|epileptic encephalopathy, early infantile, 20|multiple congenital anomalies-hypotonia-seizures syndrome type 2 OMIM:300868|UMLS:C3275508|DOID:0080139|ICD10:Q87.8|GARD:0012777|Orphanet:300496 owl:Class MONDO:0011627 biolink:NamedThing autism, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl AUTS5|phrase speech delay, autism-related|autism, susceptibility to, 5|autism-related speech delay OMIM:606053|UMLS:C1853755 owl:Class MONDO:0020836 biolink:NamedThing autism, susceptiblity to tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:209850 owl:Class MONDO:0016263 biolink:NamedThing primitive neuroectodermal tumor of the corpus uteri A primitive neuroectodermal tumor that involves the body of uterus. tmpaxzxjjyw_mondo_relaxed.owl malignant peripheral neuroectodermal tumor of the corpus uteri|body of uterus primitive neuroectodermal tumor|primitive neuroectodermal tumor of body of uterus|peripheral neuroectodermal cancer of the corpus uteri ICD10:C54.3|ICD10:C54.2|ICD10:C54.8|Orphanet:213630|UMLS:CN201052|ICD10:C54.1|ICD10:C54.0 owl:Class MONDO:0021254 biolink:NamedThing corpus uteri neoplasm A neoplasm (disease) that involves the body of uterus. tmpaxzxjjyw_mondo_relaxed.owl tumor of body of uterus|uterine corpus neoplasm|tumor of the uterine corpus|body of uterus neoplasm (disease)|body of uterus neoplasm|tumor of the corpus uteri|neoplasm of uterine body|neoplasm of the uterine body|neoplasm of the body of uterus|uterine body neoplasm|neoplasm of body of uterus|neoplasm of uterine corpus|neoplasm of the corpus uteri|tumor of the uterine body|tumor of uterine body|uterine corpus tumor|uterine body tumor|body of uterus tumor|corpus uteri tumor|neoplasm of corpus uteri|neoplasm of the uterine corpus|tumor of uterine corpus|tumor of corpus uteri SCTID:126909004|NCIT:C6300|UMLS:C1263777 MONDO:0021256|MONDO:0021255 owl:Class MONDO:0003197 biolink:NamedThing granular cell carcinoma An adenocarcinoma characterized by the presence of malignant epithelial cells with granular cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl granular cell carcinoma|granular cell adenocarcinoma|granular cell carcinoma (morphologic abnormality) DOID:4903|UMLS:C0205644|NCIT:C3681|ICDO:8320/3|MESH:D000230 owl:Class HP:0002270 biolink:NamedThing Abnormality of the autonomic nervous system An abnormality of the autonomic nervous system. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025714 The autonomic nervous system is the part of the peripheral nervous system that controls visceral functions such as heart rate and digestion and functions largely below the level of consciousness. human_phenotype owl:Class UBERON:0006539 biolink:NamedThing mammary gland fluid/secretion tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0018271 biolink:NamedThing biotin-protein ligase activity Catalysis of the reaction: ATP + biotin + protein = AMP + diphosphate + biotin-protein. tmpaxzxjjyw_mondo_relaxed.owl biotin-apoprotein ligase activity owl:Class MONDO:0000060 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239360 owl:Class MONDO:0700025 biolink:NamedThing chromosome 20 disorder Chromosomal disorder in which chromosome 20 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:6694 biolink:NamedThing LRP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014371 biolink:NamedThing future telencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012534 biolink:NamedThing combined oxidative phosphorylation defect type 4 Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation defect type 4|COXPD4|combined oxidative phosphorylation deficiency 4|combined oxidative phosphorylation deficiency caused by mutation in TUFM|TUFM combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 4 SCTID:766876004|DOID:0111494|UMLS:C1857682|MESH:C565690|Orphanet:254925|ICD10:E88.8|OMIM:610678 owl:Class UBERON:0005421 biolink:NamedThing pectoral appendage apical ectodermal ridge tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004356 biolink:NamedThing apical ectodermal ridge tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004449 biolink:NamedThing cerebral artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016887 biolink:NamedThing entire extraembryonic component tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:48377 biolink:NamedThing imidic acid Compounds derived from oxoacids RkE(=O)l(OH)m (l =/= 0) by replacing =O by =NR; thus tautomers of amides. In organic chemistry an unspecified imidic acid is generally a carboximidic acid, RC(=NR)(OH). tmpaxzxjjyw_mondo_relaxed.owl imino acids|imidic acids|imidic acid owl:Class CHEBI:33241 biolink:NamedThing oxoacid derivative tmpaxzxjjyw_mondo_relaxed.owl oxoacid derivatives owl:Class HGNC:29101 biolink:NamedThing ANKLE2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0042717 biolink:NamedThing Saul-Wilkes-Stevenson syndrome tmpaxzxjjyw_mondo_relaxed.owl Saul Wilkes Stevenson syndrome UMLS:C2931266|MESH:C536617|GARD:0000161 owl:Class ENVO:01000406 biolink:NamedThing snow Snow is an environmental material which is primarily composed of flakes of crystalline water ice. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000566 biolink:NamedThing angioblastic mesenchymal cell A mesenchymal stem cell capable of developing into blood vessel endothelium. tmpaxzxjjyw_mondo_relaxed.owl chondroplast|angioblast These cells are reportedly CD31-positive, CD34-positive, CD144-positive, CD309-positive, and TAL1-positive. cell owl:Class CL:0000134 biolink:NamedThing mesenchymal stem cell A connective tissue cell that normally gives rise to other cells that are organized as three-dimensional masses. In humans, this cell type is CD73-positive, CD90-positive, CD105-positive, CD45-negative, CD34-negative, and MHCII-negative. They may further differentiate into osteoblasts, adipocytes, myocytes, neurons, or chondroblasts in vitro. Originally described as residing in the bone marrow, this cell type is now known to reside in many, if not all, adult organs. tmpaxzxjjyw_mondo_relaxed.owl mesenchymal progenitor cells|mesenchymal stromal cell|mesenchymal stem cell|BMSC|MSC|mesenchymal precursor cell|mesenchymal stromal cells|marrow stromal cells|colony-forming unit-fibroblast|stem cells, mesenchymal|bone marrow stromal cells|CFU-F BTO:0003298|BTO:0002625|FMA:70546 Many but not all mesenchymal cells derive from the mesoderm. MSCs are reportedly CD3-negative, CD4-negative, CD5-negative, CD8-negative, CD11a-negative, CD11b-negative, CD14-negative, CD19-negative, CD29-positive, CD31-negative, CD34-negative, CD38-negative, CD40-negative, CD44-positive, CD45-negative, CD49-positive, CD54-positive, CD66b-negative, CD79a-negative, CD80-negative, CD102-positive, CD106-positive, CD117-positive, CD121a-positive, CD121b-positive, CD123-positive, CD124-positive, CD133-negative, CD146-positive, CD166-positive, CD271-positive, B220-negative, Gr1-negative, MHCI-positive, MHCII-negative, SSEA4-negative, sca1-positive, Ter119-negative, and glycophorin A-negative. Cultured MSCs are capable of producing stem cell factor, IL7, IL8, IL11, TGF-beta, cofilin, galectin-1, laminin-receptor 1, cyclophilin A, and MMP-2. CL:0002452 cell https://github.com/obophenotype/cell-ontology/issues/474 owl:Class GO:0045947 biolink:NamedThing negative regulation of translational initiation Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of translational initiation|down regulation of translational initiation|inhibition of translational initiation|down-regulation of translational initiation owl:Class GO:1904746 biolink:NamedThing negative regulation of apoptotic process involved in development Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in development. tmpaxzxjjyw_mondo_relaxed.owl down regulation of apoptotic program involved in development of an anatomical structure|down-regulation of apoptotic program involved in anatomical structure development|down regulation of apoptosis activator activity involved in anatomical structure development|inhibition of apoptotic process involved in anatomical structure development|downregulation of induction of apoptosis by p53 involved in anatomical structure development|inhibition of apoptosis activator activity involved in anatomical structure development|down regulation of type I programmed cell death involved in development of an anatomical structure|negative regulation of induction of apoptosis involved in anatomical structure development|down regulation of commitment to apoptosis involved in anatomical structure development|down regulation of apoptosis signaling involved in anatomical structure development|downregulation of apoptosis involved in development of an anatomical structure|inhibition of induction of apoptosis involved in development of an anatomical structure|downregulation of apoptosis activator activity involved in anatomical structure development|inhibition of apoptosis signaling involved in anatomical structure development|negative regulation of apoptotic cell death involved in development of an anatomical structure|downregulation of apoptosis activator activity involved in development of an anatomical structure|down-regulation of induction of apoptosis by p53 involved in anatomical structure development|down regulation of induction of apoptosis by p53 involved in anatomical structure development|inhibition of apoptosis involved in development of an anatomical structure|down-regulation of apoptosis signaling involved in anatomical structure development|down-regulation of apoptosis signaling involved in development of an anatomical structure|downregulation of apoptotic program involved in development of an anatomical structure|down regulation of apoptosis activator activity involved in development of an anatomical structure|inhibition of commitment to apoptosis involved in development of an anatomical structure|inhibition of commitment to apoptosis involved in anatomical structure development|downregulation of induction of apoptosis involved in development of an anatomical structure|inhibition of signaling (initiator) caspase activity involved in development of an anatomical structure|down-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|inhibition of induction of apoptosis involved in anatomical structure development|downregulation of activation of apoptosis involved in development of an anatomical structure|negative regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|negative regulation of induction of apoptosis by p53 involved in anatomical structure development|negative regulation of apoptosis signaling involved in development of an anatomical structure|downregulation of apoptotic process involved in anatomical structure development|down-regulation of apoptotic cell death involved in anatomical structure development|down-regulation of programmed cell death by apoptosis involved in anatomical structure development|negative regulation of commitment to apoptosis involved in development of an anatomical structure|downregulation of programmed cell death by apoptosis involved in development of an anatomical structure|downregulation of apoptotic cell death involved in anatomical structure development|down-regulation of type I programmed cell death involved in development of an anatomical structure|downregulation of type I programmed cell death involved in anatomical structure development|inhibition of apoptosis activator activity involved in development of an anatomical structure|down regulation of programmed cell death by apoptosis involved in anatomical structure development|inhibition of apoptotic process involved in development of an anatomical structure|down-regulation of commitment to apoptosis involved in anatomical structure development|inhibition of type I programmed cell death involved in development of an anatomical structure|negative regulation of apoptotic program involved in development of an anatomical structure|downregulation of apoptotic process involved in development of an anatomical structure|down-regulation of apoptotic programmed cell death involved in anatomical structure development|negative regulation of activation of apoptosis involved in development of an anatomical structure|downregulation of apoptosis signaling involved in development of an anatomical structure|negative regulation of apoptotic process involved in development of an anatomical structure|down regulation of apoptotic program involved in anatomical structure development|inhibition of apoptosis signaling involved in development of an anatomical structure|inhibition of induction of apoptosis by p53 involved in anatomical structure development|negative regulation of apoptosis signaling involved in anatomical structure development|down regulation of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of induction of apoptosis involved in development of an anatomical structure|inhibition of signaling (initiator) caspase activity involved in anatomical structure development|down regulation of activation of apoptosis involved in anatomical structure development|down regulation of induction of apoptosis by p53 involved in development of an anatomical structure|negative regulation of apoptosis involved in anatomical structure development|downregulation of induction of apoptosis by p53 involved in development of an anatomical structure|downregulation of activation of apoptosis involved in anatomical structure development|down-regulation of induction of apoptosis by p53 involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in anatomical structure development|inhibition of type I programmed cell death involved in anatomical structure development|down regulation of apoptotic cell death involved in anatomical structure development|down regulation of apoptotic process involved in development|down regulation of apoptotic process involved in anatomical structure development|downregulation of apoptosis signaling involved in anatomical structure development|down-regulation of activation of apoptosis involved in anatomical structure development|down-regulation of apoptotic process involved in anatomical structure development|down regulation of induction of apoptosis involved in anatomical structure development|inhibition of apoptotic cell death involved in anatomical structure development|down-regulation of apoptosis involved in development of an anatomical structure|down-regulation of apoptotic process involved in development|negative regulation of type I programmed cell death involved in anatomical structure development|negative regulation of induction of apoptosis involved in development of an anatomical structure|negative regulation of apoptosis involved in development of an anatomical structure|inhibition of activation of apoptosis involved in development of an anatomical structure|downregulation of apoptosis involved in anatomical structure development|inhibition of apoptotic program involved in development of an anatomical structure|negative regulation of apoptosis activator activity involved in development of an anatomical structure|down-regulation of type I programmed cell death involved in anatomical structure development|down-regulation of apoptotic program involved in development of an anatomical structure|down-regulation of apoptotic process involved in development of an anatomical structure|downregulation of apoptotic programmed cell death involved in anatomical structure development|downregulation of apoptotic cell death involved in development of an anatomical structure|inhibition of activation of apoptosis involved in anatomical structure development|negative regulation of apoptotic process involved in anatomical structure development|down regulation of apoptosis involved in anatomical structure development|down regulation of signaling (initiator) caspase activity involved in development of an anatomical structure|inhibition of apoptotic cell death involved in development of an anatomical structure|inhibition of apoptotic programmed cell death involved in development of an anatomical structure|negative regulation of commitment to apoptosis involved in anatomical structure development|down regulation of activation of apoptosis involved in development of an anatomical structure|down-regulation of apoptotic cell death involved in development of an anatomical structure|down-regulation of apoptotic programmed cell death involved in development of an anatomical structure|down regulation of signaling (initiator) caspase activity involved in anatomical structure development|down regulation of apoptotic cell death involved in development of an anatomical structure|downregulation of commitment to apoptosis involved in development of an anatomical structure|inhibition of apoptotic process involved in development|negative regulation of apoptotic programmed cell death involved in development of an anatomical structure|negative regulation of activation of apoptosis involved in anatomical structure development|down-regulation of apoptosis activator activity involved in anatomical structure development|downregulation of apoptotic process involved in development|negative regulation of programmed cell death by apoptosis involved in development of an anatomical structure|inhibition of induction of apoptosis by p53 involved in development of an anatomical structure|inhibition of programmed cell death by apoptosis involved in anatomical structure development|down-regulation of signaling (initiator) caspase activity involved in anatomical structure development|negative regulation of programmed cell death by apoptosis involved in anatomical structure development|downregulation of apoptotic program involved in anatomical structure development|down regulation of apoptosis signaling involved in development of an anatomical structure|negative regulation of apoptotic program involved in anatomical structure development|negative regulation of signaling (initiator) caspase activity involved in anatomical structure development|down regulation of apoptosis involved in development of an anatomical structure|negative regulation of apoptotic programmed cell death involved in anatomical structure development|inhibition of apoptotic program involved in anatomical structure development|down-regulation of induction of apoptosis involved in anatomical structure development|downregulation of apoptotic programmed cell death involved in development of an anatomical structure|inhibition of programmed cell death by apoptosis involved in development of an anatomical structure|down regulation of apoptotic programmed cell death involved in anatomical structure development|negative regulation of apoptosis activator activity involved in anatomical structure development|negative regulation of type I programmed cell death involved in development of an anatomical structure|down-regulation of programmed cell death by apoptosis involved in development of an anatomical structure|down-regulation of apoptosis involved in anatomical structure development|downregulation of type I programmed cell death involved in development of an anatomical structure|downregulation of commitment to apoptosis involved in anatomical structure development|down-regulation of commitment to apoptosis involved in development of an anatomical structure|downregulation of induction of apoptosis involved in anatomical structure development|down regulation of commitment to apoptosis involved in development of an anatomical structure|downregulation of programmed cell death by apoptosis involved in anatomical structure development|down regulation of type I programmed cell death involved in anatomical structure development|down-regulation of activation of apoptosis involved in development of an anatomical structure|negative regulation of induction of apoptosis by p53 involved in development of an anatomical structure|downregulation of signaling (initiator) caspase activity involved in development of an anatomical structure|down regulation of apoptotic process involved in development of an anatomical structure|negative regulation of apoptotic cell death involved in anatomical structure development|downregulation of signaling (initiator) caspase activity involved in anatomical structure development|inhibition of apoptosis involved in anatomical structure development|down-regulation of apoptosis activator activity involved in development of an anatomical structure|down-regulation of induction of apoptosis involved in development of an anatomical structure|down regulation of programmed cell death by apoptosis involved in development of an anatomical structure owl:Class UBERON:0015021 biolink:NamedThing forelimb endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011054 biolink:NamedThing autosomal recessive amelia Autosomal recessive amelia is characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents. tmpaxzxjjyw_mondo_relaxed.owl amelia, autosomal recessive UMLS:C1832432|ICD10:Q73.0|OMIM:601360|MESH:C563338|SCTID:726735000|Orphanet:1027 owl:Class HGNC:14376 biolink:NamedThing ACP4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000909 biolink:NamedThing Bartter disease type 4B A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. tmpaxzxjjyw_mondo_relaxed.owl Bartter disease type 4B|Bartter syndrome, type 4B|neonatal Bartter syndrome type 4B with sensorineural deafness|Bartter syndrome, type 4B, neonatal, with sensorineural deafness|Bartter syndrome, type 4b, digenic|Bartter syndrome, infantile, with sensorineural deafness|BARTS4B UMLS:C2751312|OMIM:613090|Orphanet:89938|DOID:0110146|Orphanet:112|ICD10:E26.8 owl:Class MONDO:0019524 biolink:NamedThing infantile Bartter syndrome with sensorineural deafness Infantile Bartter syndrome with deafness, a phenotypic variant of Bartter syndrome is characterized by maternal polyhydramnios, premature delivery, polyuria and sensorineural deafness and is associated with hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure, and vascular resistance to angiotensin II. tmpaxzxjjyw_mondo_relaxed.owl Bartter syndrome type IV|Bartter syndrome type 4|Bartter syndrome with sensorineural deafness OMIM:613090|UMLS:CN206343|GARD:0010508|Orphanet:89938|SCTID:700112007|OMIM:602522|ICD10:E26.8|UMLS:C3838860 owl:Class MONDO:0015833 biolink:NamedThing pseudounicornuate uterus Pseudounicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube associated with a rudimentary second horn (which can be solid or contain a cavity with functioning endometrium and be communicating or non-communicating). Urinary tract anomalies are frequently associated. tmpaxzxjjyw_mondo_relaxed.owl incomplete unilateral Müllerian aplasia|unicornuate uterus with rudimentary horn|incomplete unilateral Mullerian aplasia|incomplete unilateral aplasia of the Müllerian ducts|incomplete unilateral aplasia of the Mullerian ducts Orphanet:180079|ICD10:Q51.4 owl:Class MONDO:0015831 biolink:NamedThing unilateral aplasia of the mullerian ducts tmpaxzxjjyw_mondo_relaxed.owl unilateral aplasia of the Müllerian ducts|unicornuate uterus Orphanet:180071|ICD10:Q51.4 owl:Class MONDO:0006133 biolink:NamedThing cervical adenoid cystic carcinoma A rare carcinoma that arises from the cervix. It is characterized by the presence of cystic spaces surrounded by palisaded epithelial cells. The cystic spaces contain eosinophilic hyaline material or mucin. Nuclear pleomorphism, necrotic changes, and a high mitotic rate are also present. tmpaxzxjjyw_mondo_relaxed.owl adenoid cystic carcinoma of cervix uteri|adenoid cystic carcinoma of the cervix uteri|cervical adenoid cystic cancer|uterine cervix adenoid cystic carcinoma|cervix uteri adenoid cystic carcinoma|cervix adenoid cystic carcinoma|adenoid cystic carcinoma of the cervix|adenoid cystic carcinoma of the uterine cervix|adenoid cystic carcinoma of cervix|cervical adenoid cystic carcinoma|adenoid cystic carcinoma of uterine cervix UMLS:C1332911|NCIT:C6346|DOID:4867|ONCOTREE:CACC|EFO:1000161 owl:Class MONDO:0016286 biolink:NamedThing adenoid cystic carcinoma of the cervix uteri A adenoid cystic carcinoma that involves the uterine cervix. tmpaxzxjjyw_mondo_relaxed.owl cervical adenoid cystic carcinoma|uterine cervix adenoid cystic carcinoma ICD10:C53.0|ICD10:C53.1|Orphanet:213823|ICD10:C53.8 owl:Class MONDO:0015459 biolink:NamedThing nasopharyngeal carcinoma A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of nasopharynx (disorder) [ambiguous]|malignant neoplasm of other specified sites of nasopharynx|malignant neoplasm of nasopharyngeal wall|malignant neoplasm of lateral wall of nasopharynx|nasopharyngeal carcinoma|carcinoma of nasopharynx|malignant nasopharyngeal tumor|malignant tumor of anterior wall of nasopharynx|malignant neoplasm of roof of nasopharynx|primary malignant neoplasm of anterior wall of nasopharynx|malignant neoplasm of nasopharynx|squamous cell carcinoma of the nasopharynx|nasopharyngeal throat cancer|nasopharyngeal cancer|cancer of nasopharynx|NPC|cancer of the nasopharynx|malignant neoplasm of posterior wall of nasopharynx|carcinoma of the nasopharynx|malignant neoplasm of superior wall of nasopharynx|malignant tumor of posterior wall of nasopharynx|nasopharynx carcinoma|malignant neoplasm of anterior wall of nasopharynx|malignant tumor of lateral wall of nasopharynx NCIT:C3871|MESH:D00007727|ICD9:147|UMLS:C0153393|UMLS:C3665551|ICD10:C11.9|ICD10:C11|DOID:9261|ICD9:147.2|UMLS:C0153396|OMIM:161550|SCTID:363398003|UMLS:C2931822|UMLS:C0153392|ICD9:147.9|ICD10:C11.1|ICD9:147.3|UMLS:CN199582|ICD10:C11.0|ICD9:147.1|MESH:D009303|ICD10:C11.2|ONCOTREE:NPC|OMIM:607107|MedDRA:10028793|MESH:C538339|UMLS:C3647449|NCIT:C9321|UMLS:C0153394|ICD9:147.0|OMIM:617075|ICD10:C11.3|UMLS:C0153395|Orphanet:150|SCTID:187692001|UMLS:C0238301 owl:Class MONDO:0017344 biolink:NamedThing Epstein-Barr virus-associated carcinoma tmpaxzxjjyw_mondo_relaxed.owl EBV-associated carcinoma Orphanet:289651 owl:Class MONDO:0005980 biolink:NamedThing tick infestation Infestations with soft-bodied (Argasidae) or hard-bodied (Ixodidae) ticks. tmpaxzxjjyw_mondo_relaxed.owl Ixodoidea caused disease or disorder|Ixodoidea infectious disease|Ixodoidea disease or disorder MESH:D013984|DOID:4109|EFO:0007508|UMLS:C0040196 owl:Class HGNC:9175 biolink:NamedThing POLD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100269 biolink:NamedThing peroxisome biogenesis disorder due to PEX16 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX16 gene. tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX16 defect|PEX16 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:11758 biolink:NamedThing TFG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007819 biolink:NamedThing solitary median maxillary central incisor syndrome A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified. tmpaxzxjjyw_mondo_relaxed.owl incisors, Fused|SMMCI syndrome|single upper central incisor|Fused incisors|single central maxillary incisor|solitary median maxillary central incisor syndrome|SMMCI|solitary MEDIAN maxillary central incisor|incisors fused MESH:C537342|GARD:0004877|Orphanet:280200|Orphanet:2162|SCTID:707609006|OMIM:147250|Orphanet:2286|ICD10:K00.2 owl:Class MONDO:0017219 biolink:NamedThing microform holoprosencephaly Microform holoprosencephaly is a benign form of holoprosencephaly (HPE) characterized by midline defects without the typical HPE defect in brain cleavage. tmpaxzxjjyw_mondo_relaxed.owl HPE, minor form|Holoprosencéphalie, minor form|HoloprosencC)phalie, minor form|holoprosencephaly-like|Microform HPE|HPE-L ICD10:Q04.2|UMLS:CN202701|OMIM:157170|Orphanet:280200|DOID:0111380|OMIM:147250|OMIM:610829|OMIM:609637|UMLS:CN236719 owl:Class MONDO:0004772 biolink:NamedThing glaucomatocyclitic crisis tmpaxzxjjyw_mondo_relaxed.owl Posner-Schlossman syndrome|Terrien-Viel syndrome SCTID:29538005|DOID:9378|UMLS:C0152138|ICD9:364.22 owl:Class GO:0019899 biolink:NamedThing enzyme binding Binding to an enzyme, a protein with catalytic activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005515 biolink:NamedThing protein binding Binding to a protein. tmpaxzxjjyw_mondo_relaxed.owl protein amino acid binding|glycoprotein binding owl:Class HP:0012332 biolink:NamedThing Abnormal autonomic nervous system physiology A functional abnormality of the autonomic nervous system. tmpaxzxjjyw_mondo_relaxed.owl Autonomic dysregulation|Autonomic dysfunction|Dysautonomia UMLS:C4022952 peter 2013-09-13T07:53:55Z HP:0002387|HP:0002459|HP:0002271|HP:0007310 human_phenotype owl:Class HGNC:853 biolink:NamedThing ATP6V1B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009249 biolink:NamedThing hereditary fructose intolerance Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism, resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated. tmpaxzxjjyw_mondo_relaxed.owl fructose intolerance, hereditary|aldolase B deficiency|hereditary fructose intolerance syndrome|hereditary fructose-1-phosphate aldolase deficiency|fructose-1-phosphate aldolase deficiency|hereditary fructose intolerance|hereditary fructosemia|Fructosaemia|fructose-1,6-bisphosphate aldolase B deficiency|Aldob deficiency|fructosemia|fructose intolerance UMLS:C0016751|SCTID:20052008|MedDRA:10019878|DOID:9869|GARD:0006622|ICD10:E74.12|OMIM:229600|ICD9:271.2|ICD10:E74.1|NCIT:C84720|Orphanet:469 owl:Class MONDO:0017706 biolink:NamedThing disorder of carbohydrate absorption and transport tmpaxzxjjyw_mondo_relaxed.owl Orphanet:309001|UMLS:CN227180 owl:Class MONDO:0014388 biolink:NamedThing familial median cleft of the upper and lower lips Familial median cleft of the upper and lower lips is a rare and isolated orofacial defect characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. Variable expressivity has been reported in an affected family. tmpaxzxjjyw_mondo_relaxed.owl OFC14|orofacial cleft 14 Orphanet:401942|OMIM:615892|ICD10:Q36.1 owl:Class MONDO:0000358 biolink:NamedThing orofacial cleft tmpaxzxjjyw_mondo_relaxed.owl OMIM:608371|OMIM:608864|OMIM:600625|OMIM:600757|SCTID:449790007|OMIM:610361|OMIM:613857|OMIMPS:119530|DOID:0050567|OMIM:608874|UMLS:CN221583|OMIM:119530|OMIM:602966|OMIM:615892|OMIM:612858|OMIM:613705 Editor notes: most subtypes are isolated owl:Class MONDO:0044762 biolink:NamedThing diarrheal disease secondary to increased bowel motility A diarrhea that results from increased motility in the bowel; significant increases in bowel motility can deliver excessively large volumes of stool to the colon. Diarrhea can result when the maximum colonic absorptive capacity of 4 liters a day is exceeded. Also, an alteration in colonic motility such that bowel contents are emptied before adequate absorption can occur has been offered as a possible explanation for the diarrhea associated with irritable bowel disease. tmpaxzxjjyw_mondo_relaxed.owl motility-related diarrhea|diarrhea from increased bowel motility DOID:0050131 owl:Class MONDO:0000251 biolink:NamedThing diarrheal disease secondary to altered bowel motility A diarrhea that results from either increased or decreased motility in the bowel. tmpaxzxjjyw_mondo_relaxed.owl motility-related diarrhea|diarrhea secondary to altered bowel motility owl:Class PATO:0001402 biolink:NamedThing multipotent A cellular potency that is the capacity to form multiple differentiated cell types. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001397 biolink:NamedThing cellular potency A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019986 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206920|ICD10:N04.8|Orphanet:97555 owl:Class MONDO:0019401 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome Steroid-resistant, sporadic idiopathic nephrotic syndrome, is a heterogeneous entity. Nephrotic syndrome is characterised by marked proteinuria, with reduced plasmatic levels of albumin, and potentially with oedema. tmpaxzxjjyw_mondo_relaxed.owl sporadic idiopathic nephrosis SCTID:717191005|Orphanet:84271|ICD10:N04.3|ICD10:N04.8|ICD10:N04.1|OMIM:612551|UMLS:C4274017 owl:Class MONDO:0013439 biolink:NamedThing congenital bile acid synthesis defect 3 Congenital bile acid synthesis defect type 3 (BAS defect type 3) is a severe anomaly of bile acid synthesis characterized by severe neonatal cholestatic liver disease. tmpaxzxjjyw_mondo_relaxed.owl bile acid synthesis defect, congenital, type 3|congenital bile acid synthesis defect type 3|congenital bile acid synthesis defect caused by mutation in CYP7B1|CYP7B1 congenital bile acid synthesis defect|bile acid synthesis defect, congenital, 3|CBAS3|oxysterol 7-alpha-hydroxylase deficiency|BASD3 SCTID:719454003|UMLS:C3151147|Orphanet:79302|UMLS:C4304715|MESH:C566340|OMIM:613812|ICD10:K76.8|DOID:0111070 owl:Class MONDO:0018841 biolink:NamedThing congenital bile acid synthesis defect tmpaxzxjjyw_mondo_relaxed.owl bile acid synthesis defect, congenital|CBA|cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency|BASD UMLS:CN239183|DOID:0050674|Orphanet:485631|OMIMPS:607765|EFO:0009039|ICD10:K76.8 owl:Class MONDO:0013074 biolink:NamedThing encephalocraniocutaneous lipomatosis A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations. tmpaxzxjjyw_mondo_relaxed.owl encephalocraniocutaneous lipomatosis|Fishman syndrome|ECCL|Haberland syndrome ICD10:E88.2|MESH:C535736|Orphanet:2396|NCIT:C4701|ICD9:757.8|GARD:0002108|SCTID:238905009|UMLS:C0406612|OMIM:613001 https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis owl:Class MONDO:0013414 biolink:NamedThing retinitis pigmentosa 44 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 44|RGR retinitis pigmentosa|retinitis pigmentosa caused by mutation in RGR|retinitis pigmentosa type 44|RP44 ICD10:H35.5|UMLS:C3151068|OMIM:613769|DOID:0110394 owl:Class UBERON:0000320 biolink:NamedThing duodenal mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001204 biolink:NamedThing mucosa of small intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012570 biolink:NamedThing body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare genetic skin disease characterized by severe skin laxity affecting the trunk and limbs. tmpaxzxjjyw_mondo_relaxed.owl pseudoxanthoma elasticum-like syndrome|pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency|PXE-like syndrome|PXE-like disorder with multiple coagulation Factor deficiency SCTID:717941005|UMLS:C1835813|Orphanet:91135|OMIM:610842|MESH:C563654|ICD10:D68.4|UMLS:C4049241 owl:Class MONDO:0001414 biolink:NamedThing osteopoikilosis A rare autosomal dominant inherited disorder characterized by the presence of small areas of increased density throughout the bones. tmpaxzxjjyw_mondo_relaxed.owl osteopathia condensans disseminata|spotted bones|osteopoikilosis|osteopoikilosis (disease) osteopoikilosis (disease) MESH:D010023|DOID:11991|ICD10:Q78.8|SCTID:9147009|ICD9:756.53|HP:0010739|GARD:0004158|NCIT:C84985 owl:Class MONDO:0002933 biolink:NamedThing osteosclerosis Abnormally high bone density. tmpaxzxjjyw_mondo_relaxed.owl DOID:4254|MESH:D010026|UMLS:C0029464|SCTID:49347007|ICD10:Q78.2|NCIT:C41236 owl:Class HGNC:11752 biolink:NamedThing TFE3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0011005 biolink:NamedThing GABAergic interneuron An interneuron that uses GABA as a vesicular neurotransmitter. These interneurons are inhibitory tmpaxzxjjyw_mondo_relaxed.owl GABAergic inhibitory interneuron The formal and textual definitions of this term will need to be altered if evidence for non-inhibitory GABA-ergic neurons emerges. owl:Class MONDO:0014895 biolink:NamedThing developmental and epileptic encephalopathy, 40 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene. tmpaxzxjjyw_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in GUF1|epileptic encephalopathy, early infantile, 40; EIEE40|epileptic encephalopathy, early infantile, type 40|GUF1 early infantile epileptic encephalopathy|DEE40|epileptic encephalopathy, early infantile, 40|EIEE40 UMLS:C4310737|DOID:0080427|OMIM:617065 owl:Class MONDO:0012983 biolink:NamedThing cone-rod dystrophy 12 Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene. tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy 12|PROM1 cone-rod dystrophy|CORD12|cone-rod dystrophy caused by mutation in PROM1|cone-rod dystrophy type 12 MESH:C567206|OMIM:612657|UMLS:C2675210|DOID:0111019 owl:Class MONDO:0012675 biolink:NamedThing corticosteroid-binding globulin deficiency Corticosteroid-binding globulin deficiency is a genetic disorder characterized by extreme tiredness (fatigue), particularly after physical exertion, and low blood pressure (hypotension). Corticosteroid-binding globulin (CBG) is a protein primarily produced in the liver that attaches to cortisol, a hormone with numerous functions, including maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation.When cortisol is needed in the body, CBG delivers the cortisol where it is needed and releases it. Signs and symptoms of CBG deficiency vary. While some individuals may experience no symptoms, others are found to have a fatty liver and chronic pain. Some people with CBG deficiency also have chronic fatigue syndrome. CGB deficiency is caused by mutations in the SERPINA6 gene. The SERPINA6 gene is commonly also referred to as the CBG gene. Both autosomal dominant and autosomal recessive inheritance have been reported.While there is still no cure, treatment options will depend on the type and severity of symptoms present and may involve several specialists. tmpaxzxjjyw_mondo_relaxed.owl Cbg deficiency|corticosteroid-binding globulin, elevated|transcortin deficiency|CBG deficiency|corticosteroid-binding globulin deficiency|Transcortin deficiency UMLS:C1852529|DOID:0090030|Orphanet:199247|ICD10:E27.8|GARD:0013101|OMIM:611489 https://rarediseases.info.nih.gov/diseases/13101/corticosteroid-binding-globulin-deficiency owl:Class MONDO:0005495 biolink:NamedThing adrenal gland disorder A disease involving the adrenal gland. tmpaxzxjjyw_mondo_relaxed.owl adrenal gland disease or disorder|adrenal gland diseases|disease or disorder of adrenal gland|disease of adrenal gland|adrenal gland disorder|adrenal gland disorders|adrenal gland disease|disorder of adrenal gland ICD9:255|ICD10:E27.9|SCTID:30171000|DOID:9553|MESH:D000307|ICD9:255.9|NCIT:C26690|ICD9:255.8|EFO:0005539 owl:Class MONDO:0016178 biolink:NamedThing peripheral neuropathy associated with monoclonal gammopathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:209010 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: peripheral neuropathy associated with monoclonal gammopathy' MONDO_0016178 owl:Class MONDO:0017391 biolink:NamedThing Grayson-Wilbrandt corneal dystrophy Grayson-Wilbrandt corneal dystrophy (GWCD) is an extremely rare form of corneal dystrophy characterized by variable patterns of opacification in the Bowman layer of the cornea which extend anteriorly into the epithelium with decreased to normal visual acuity. tmpaxzxjjyw_mondo_relaxed.owl GWCD SCTID:717286002|ICD10:H18.5|Orphanet:293375 owl:Class MONDO:0011135 biolink:NamedThing superior transverse scapular ligament, calcification of, familial tmpaxzxjjyw_mondo_relaxed.owl superior transverse scapular ligament, calcification of, familial UMLS:C1866424|MESH:C566638|OMIM:601708 owl:Class MONDO:0010022 biolink:NamedThing senile plaque formation tmpaxzxjjyw_mondo_relaxed.owl senile plaque formation OMIM:269800 owl:Class MONDO:0003088 biolink:NamedThing intramuscular hemangioma A hemangioma arising from skeletal muscle. tmpaxzxjjyw_mondo_relaxed.owl intramuscular angioma|intramuscular hemangioma (morphologic abnormality) DOID:468|UMLS:C0205789|ICDO:9132/0|MESH:D006391|NCIT:C3699 owl:Class MONDO:0003096 biolink:NamedThing deep hemangioma A hemangioma arising from the deep soft tissues. tmpaxzxjjyw_mondo_relaxed.owl deep angioma|deep hemangioma NCIT:C6555|DOID:469|UMLS:C1333265 owl:Class GO:0023057 biolink:NamedThing negative regulation of signaling Any process that stops, prevents, or reduces the frequency, rate or extent of a signaling process. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of signaling process|negative regulation of signalling process owl:Class MONDO:0008780 biolink:NamedThing amyotrophic lateral sclerosis type 2, juvenile Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ALS2 gene. tmpaxzxjjyw_mondo_relaxed.owl ALS2|amyotrophic lateral sclerosis caused by mutation in ALS2|ALS, juvenile|ALS2 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 2, juvenile|amyotrophic lateral sclerosis 2 OMIM:205100|Orphanet:300605|ICD10:G12.2|GARD:0009470|DOID:0060194|MESH:C565957 https://rarediseases.info.nih.gov/diseases/9470/amyotrophic-lateral-sclerosis-type-2 owl:Class NCBITaxon:7205 biolink:NamedThing Tabanidae tmpaxzxjjyw_mondo_relaxed.owl deerflies|horseflies|horseflies and deerflies GC_ID:1 ncbi_taxonomy owl:Class CHEBI:32774 biolink:NamedThing D-tyrosinate(2-) The D-enantiomer of tyrosinate(2-). tmpaxzxjjyw_mondo_relaxed.owl D-tyrosine dianion|D-tyrosinate(2-)|(2R)-2-amino-3-(4-oxidophenyl)propanoate|D-tyrosinate owl:Class CHEBI:32785 biolink:NamedThing tyrosinate(2-) tmpaxzxjjyw_mondo_relaxed.owl tyrosinate|2-amino-3-(4-oxidophenyl)propanoate|tyrosine dianion|tyrosinate(2-) owl:Class GO:0002524 biolink:NamedThing hypersensitivity An inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. tmpaxzxjjyw_mondo_relaxed.owl hypersensitivity response owl:Class GO:0002438 biolink:NamedThing acute inflammatory response to antigenic stimulus An acute inflammatory response to an antigenic stimulus. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003843 biolink:NamedThing dental epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010129 biolink:NamedThing femur cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003839 biolink:NamedThing forelimb joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012891 biolink:NamedThing pontocerebellar hypoplasia type 2C Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene. tmpaxzxjjyw_mondo_relaxed.owl PCH2C|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34|TSEN34 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 2C OMIM:612390|UMLS:C2676465|DOID:0060269|MESH:C567324|Orphanet:2524 owl:Class MONDO:0019224 biolink:NamedThing inborn disorder of gamma-aminobutyric acid metabolism An acquired metabolic disease that is has its basis in the disruption of gamma-aminobutyric acid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl inborn error of gamma-aminobutyric acid metabolic process|inborn gamma-aminobutyric acid metabolic process disorder|rare inborn error of gamma-aminobutyric acid metabolic process|disorder of gamma-aminobutyric acid metabolism|disorder of GABA metabolism UMLS:CN227591|Orphanet:79175|ICD10:E72.8 owl:Class MONDO:0008076 biolink:NamedThing amyotrophic neuralgia An autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. tmpaxzxjjyw_mondo_relaxed.owl hereditary brachial plexus neuropathy|HNA|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|hereditary neuralgic amyotrophy|neuralgic amyotrophy|neuritis with brachial predilection|amyotrophy, hereditary neuralgic|brachial plexus neuropathy, hereditary Orphanet:2901|MESH:D020968|ICD9:353.5|DOID:10383|GARD:0003955|SCTID:3548001|OMIM:162100|ICD10:G54.5|SCTID:26609002 owl:Class UBERON:0004296 biolink:NamedThing respiratory system lymphatic vessel smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010255 biolink:NamedThing 3rd arch mesenchyme from neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:10258 biolink:NamedThing Orf virus tmpaxzxjjyw_mondo_relaxed.owl Contagious pustular dermatitis virus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10257 biolink:NamedThing Parapoxvirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008044 biolink:NamedThing myoclonic dystonia 11 Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene. tmpaxzxjjyw_mondo_relaxed.owl myoclonic dystonia|DYT11|myoclonus-dystonia syndrome|dystonia 11, myoclonic|SGCE myoclonus-dystonia syndrome|dystonia, alcohol-responsive|myoclonic dystonia 11|alcohol-responsive dystonia|myoclonus, hereditary essential|myoclonus-dystonia syndrome caused by mutation in SGCE|myoclonic dystonia type 11 ICD10:G24.1|OMIM:159900|OMIM:616398|DOID:0090034|UMLS:C1834570 owl:Class MONDO:0000903 biolink:NamedThing myoclonus-dystonia syndrome Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks. tmpaxzxjjyw_mondo_relaxed.owl myoclonus, hereditary essential|myoclonus-Dystonia|DYT-SGCE|dystonia with myoclonus|dystonia-11, myoclonic|myoclonus-dystonia|hereditary essential myoclonus|dystonia 11, myoclonic|DYT11|Hereditary essential myoclonus|dystonia, alcohol responsive|dystonia 11|alcohol-responsive dystonia|myoclonic dystonia|myoclonus-dystonia syndrome|dystonia, alcohol-responsive Orphanet:36899|SCTID:439732004|UMLS:C1834570|ICD10:G24.1|MESH:C536096|OMIM:159900|GARD:0007139|ICD9:333.99|DOID:0090033 owl:Class MONDO:0009709 biolink:NamedThing myopathy, centronuclear, 2 Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene. tmpaxzxjjyw_mondo_relaxed.owl CNM2|centronuclear myopathy caused by mutation in BIN1|myopathy, centronuclear, autosomal recessive|myopathy, centronuclear, type 2|myopathy, centronuclear, 2|BIN1 centronuclear myopathy|myotubular myopathy, autosomal recessive OMIM:255200|DOID:0111220|MESH:C562934|Orphanet:169186 owl:Class MONDO:0018947 biolink:NamedThing centronuclear myopathy Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. tmpaxzxjjyw_mondo_relaxed.owl CNM|myotubular myopathy|centronuclear myopathy|myopathy, centronuclear|myopathy, myotubular SCTID:82077006|ICD10:G71.2|OMIM:614408|OMIM:160150|Orphanet:595|OMIM:615959|UMLS:C0175709|OMIMPS:160150|OMIM:255200|Orphanet:596|GARD:0000101|DOID:14717|OMIM:310400|OMIM:614807 https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy owl:Class MONDO:0019559 biolink:NamedThing hypertrophic or verrucous lupus erythematosus tmpaxzxjjyw_mondo_relaxed.owl Orphanet:90282|UMLS:CN227653|ICD10:L93.2 owl:Class MONDO:0015574 biolink:NamedThing chronic cutaneous lupus erythematosus Chronic cutaneous lupus erythematosus (CCLE) is a form of cutaneous lupus erythematosus (CLE) that includes five different forms: discoid lupus erythematosus (DLE), chilblain lupus, hypertrophic or verrucous lupus erythematosus, lupus erythematosus tumidus, and lupus erythematosus panniculitis. tmpaxzxjjyw_mondo_relaxed.owl cutaneous lupus erythematosus, chronic ICD10:L93.2|MedDRA:10057929|Orphanet:163531|ICD10:L93.0|UMLS:CN226705 owl:Class MONDO:0002810 biolink:NamedThing pancreatic serous cystic neoplasm A benign or malignant epithelial neoplasm that is usually cystic and arises from the exocrine pancreas. It is characterized by the presence of neoplastic epithelial cells that produce fluid similar to serum. Representative examples include serous cystadenoma and serous cystadenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl pancreatic serous neoplasm|pancreatic serous cystic neoplasm DOID:3919|NCIT:C41248|UMLS:C1518875 owl:Class GO:1903037 biolink:NamedThing regulation of leukocyte cell-cell adhesion Any process that modulates the frequency, rate or extent of leukocyte cell-cell adhesion. tmpaxzxjjyw_mondo_relaxed.owl regulation of leukocyte cell adhesion|regulation of leukocyte adhesion owl:Class GO:0022407 biolink:NamedThing regulation of cell-cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017548 biolink:NamedThing humero-radio-ulnar synostosis, unilateral tmpaxzxjjyw_mondo_relaxed.owl humero-radio-ulnar fusion, unilateral ICD10:Q74.0|Orphanet:295205 owl:Class MONDO:0017983 biolink:NamedThing humero-radio-ulnar synostosis Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated. tmpaxzxjjyw_mondo_relaxed.owl humero-radio-ulnar fusion ICD10:Q74.0|Orphanet:3266 owl:Class CHEBI:77425 biolink:NamedThing EC 1.1.1.188 (prostaglandin-F synthase) inhibitor An EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor that interferes with the action of prostaglandin-F synthase (EC 1.1.1.188). tmpaxzxjjyw_mondo_relaxed.owl prostaglandin F synthase inhibitors|prostaglandin 11-ketoreductase inhibitor|EC 1.1.1.188 (prostaglandin-F synthase) inhibitors|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 11-oxidoreductase inhibitor|PGD2 11-ketoreductase inhibitor|prostaglandin 11-keto reductase inhibitor|prostaglandin F synthase inhibitor|prostaglandin 11-keto reductase inhibitors|PGF2alpha synthetase inhibitor|prostaglandin F synthetase inhibitors|EC 1.1.1.188 inhibitor|reductase, 15-hydroxy-11-oxoprostaglandin inhibitor|prostaglandin F synthetase inhibitor|PGF synthetase inhibitors|PGF2alpha synthetase inhibitors|prostaglandin-D2 11-reductase inhibitor|prostaglandin-D2 11-reductase inhibitors|prostaglandin 11-ketoreductase inhibitors|synthetase, prostaglandin F2alpha inhibitor|NADPH-dependent prostaglandin D2 11-keto reductase inhibitors|PGF synthetase inhibitor|(5Z,13E)-(15S)-9alpha,11alpha,15-trihydroxyprosta-5,13-dienoate:NADP(+) 11-oxidoreductase inhibitors|NADPH-dependent prostaglandin D2 11-keto reductase inhibitor|prostaglandin D2-ketoreductase inhibitors|prostaglandin D2-ketoreductase inhibitor|reductase, 15-hydroxy-11-oxoprostaglandin inhibitors|PGD2 11-ketoreductase inhibitors|EC 1.1.1.188 inhibitors|synthetase, prostaglandin F2alpha inhibitors owl:Class CHEBI:76835 biolink:NamedThing EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor An EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor that uses NAD(+) or NADP(+) as acceptor (EC 1.1.1.*). tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitor|oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor (EC 1.1.1.*) inhibitors|EC 1.1.1.* inhibitors|EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+)acceptor) inhibitors|EC 1.1.1.* inhibitor owl:Class UBERON:0010399 biolink:NamedThing spleen trabecular artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051174 biolink:NamedThing regulation of phosphorus metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. tmpaxzxjjyw_mondo_relaxed.owl regulation of phosphorus metabolism owl:Class MONDO:0001240 biolink:NamedThing neonatal anemia The mildest form of erythroblastosis fetalis in which anemia is the chief manifestation. tmpaxzxjjyw_mondo_relaxed.owl anemia neonatal UMLS:C0002891|DOID:11244|MESH:D000751|SCTID:234350007 owl:Class MONDO:0009942 biolink:NamedThing pyknoachondrogenesis Pyknoachondrogenesis is a lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis. tmpaxzxjjyw_mondo_relaxed.owl association of skeletal defects resembling achondrogenesis with generalized bone sclerosis|camera syndrome|pyknoachondrogenesis UMLS:C1849523|ICD10:Q78.8|SCTID:719258003|GARD:0004610|OMIM:265880|MESH:C536251|Orphanet:3003 https://rarediseases.info.nih.gov/diseases/4610/pyknoachondrogenesis owl:Class MONDO:0019718 biolink:NamedThing lethal chondrodysplasia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93465 owl:Class MONDO:0022760 biolink:NamedThing chromosome 22q deletion tmpaxzxjjyw_mondo_relaxed.owl 22q deletion|deletion 22q|partial monosomy of chromosome 22q|partial deletion of the long arm of chromosome 22|partial monosomy of the long arm of chromosome 22|monosomy 22q|partial deletion of chromosome 22q|22q monosomy|partial monosomy 22q|partial deletion of the long arm of chromosome type 22 Orphanet:262182|ICD10:Q93.5|GARD:0008668 https://rarediseases.info.nih.gov/diseases/8668/chromosome-22q-deletion owl:Class MONDO:0020677 biolink:NamedThing sudden hearing loss disorder tmpaxzxjjyw_mondo_relaxed.owl SCTID:79471008 owl:Class MONDO:0014803 biolink:NamedThing spasticity-ataxia-gait anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl spasticity, childhood-onset, with hyperglycinemia|childhood-onset spasticity with variant non-ketotic hyperglycinemia|childhood-onset spasticity with hyperglycinemia|SPAHGC OMIM:616859|UMLS:C4225178|ICD10:E88.8|Orphanet:401866 owl:Class MONDO:0018424 biolink:NamedThing inherited lipoic acid biosynthesis defect An acquired metabolic disease that is has its basis in the disruption of lipoate biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl lipoate biosynthesis defect|lipoic acid biosynthesis defects|inborn lipoate biosynthetic process disorder|lipoic acid biosynthesis defect|rare inborn error of lipoate biosynthetic process|inborn error of lipoate biosynthetic process ICD10:E88.8|Orphanet:401854|GARD:0012679 owl:Class GO:0019362 biolink:NamedThing pyridine nucleotide metabolic process The chemical reactions and pathways involving a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base. tmpaxzxjjyw_mondo_relaxed.owl pyridine nucleotide metabolism owl:Class MONDO:0010051 biolink:NamedThing spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents. tmpaxzxjjyw_mondo_relaxed.owl spastic quadriplegia retinitis pigmentosa mental retardation|spastic quadriplegia, retinitis pigmentosa, and intellectual disability|progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss|progressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing loss|spastic quadriplegia retinitis pigmentosa intellectual disability|spastic quadriplegia, retinitis pigmentosa, and mental retardation|spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome Orphanet:3011|OMIM:270950|MESH:C564808|UMLS:C1849112|GARD:0004932 owl:Class MONDO:0005680 biolink:NamedThing Brill-Zinsser disease A delayed relapse of epidemic typhus, caused by Rickettsia prowazekii. tmpaxzxjjyw_mondo_relaxed.owl latent typhus|recrudescent typhus|Brill's disease|Brill disease|Brill Zinsser disease|sporadic typhus EFO:0007182|ICD9:081.1|UMLS:C0006181|ICD10:A75.1|Orphanet:99990|DOID:11254|SCTID:47761007 owl:Class MONDO:0014060 biolink:NamedThing progressive retinal dystrophy due to retinol transport defect tmpaxzxjjyw_mondo_relaxed.owl retinal dystrophy, iris coloboma, and comedogenic acne syndrome|retinol dystrophy-iris coloboma-comedogenic acne syndrome|RDCCAS UMLS:C3554593|OMIM:615147|Orphanet:352718|ICD10:H35.5 owl:Class MONDO:0004086 biolink:NamedThing ciliary body epithelioid cell melanoma A epithelioid cell melanoma that involves the ciliary body. tmpaxzxjjyw_mondo_relaxed.owl ciliary body epithelioid cell melanoma|epithelioid cell melanoma of the ciliary body|epithelioid cell melanoma of ciliary body DOID:7042|NCIT:C6119|UMLS:C1333050 owl:Class MONDO:0003912 biolink:NamedThing malignant ciliary body melanoma A rare uveal melanoma that arises from the ciliary body. Patients may present with blurred vision, visual field loss, floaters, and ocular pain. The prognosis is usually poor. tmpaxzxjjyw_mondo_relaxed.owl melanoma of ciliary body|malignant melanoma of the ciliary body|ciliary body melanoma (disease)|melanoma of the ciliary body|ciliary body malignant melanoma|malignant melanoma of ciliary body|melanoma (disease) of ciliary body|ciliary body melanoma NCIT:C4558|ICD9:190.8|SCTID:255015006|UMLS:C0346379|DOID:6524 MONDO:0021434 owl:Class HGNC:4285 biolink:NamedThing GJB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2093 biolink:NamedThing Mycoplasma tmpaxzxjjyw_mondo_relaxed.owl Eperythrozoon|Asteromyces|Asterococcus|Borrelomyces|Bovimyces|Haemobartonella|Pleuropneumonia GC_ID:4|PMID:11931184|PMID:25288662|PMID:8863441|PMID:11321109|PMID:8995799|PMID:16403858|PMID:11411711|PMID:15176735|PMID:13403276|PMID:16350067|PMID:10826816 NCBITaxon:57371|NCBITaxon:29500 ncbi_taxonomy owl:Class NCBITaxon:2092 biolink:NamedThing Mycoplasmataceae tmpaxzxjjyw_mondo_relaxed.owl Borrelomycetaceae|Pleuropneumoniaceae|Parasitaceae PMID:13403276|PMID:16350067|GC_ID:4 ncbi_taxonomy owl:Class CHEBI:16134 biolink:NamedThing ammonia An azane that consists of a single nitrogen atom covelently bonded to three hydrogen atoms. tmpaxzxjjyw_mondo_relaxed.owl AMMONIA|[NH3]|spirit of hartshorn|Ammoniak|ammoniac|amoniaco|azane|NH3|R-717|ammonia|Ammonia owl:Class MONDO:0044682 biolink:NamedThing MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome tmpaxzxjjyw_mondo_relaxed.owl MYBPC1-related autosomal recessive non-lethal AMC syndrome Orphanet:498693 owl:Class GO:0044092 biolink:NamedThing negative regulation of molecular function Any process that stops or reduces the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012948 biolink:NamedThing chromosome 6pter-p24 deletion syndrome Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl 6p subtelomeric deletion syndrome|monosomy 6p25|distal monosomy type 6p|distal monosomy 6p|6p25 microdeletion syndrome|chromosome 6pter-p24 deletion syndrome|distal deletion 6p ICD10:Q93.5|UMLS:C2675486|SCTID:718688008|DOID:0060422|UMLS:C4305276|MESH:C567239|Orphanet:96125|OMIM:612582 owl:Class MONDO:0016888 biolink:NamedThing partial deletion of the short arm of chromosome 6 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 6p|partial deletion of chromosome 6p|partial deletion of the short arm of chromosome type 6|partial monosomy of the short arm of chromosome 6 ICD10:Q93.5|Orphanet:261902 owl:Class UBERON:0003063 biolink:NamedThing prechordal plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018949 biolink:NamedThing distal myopathy Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands. tmpaxzxjjyw_mondo_relaxed.owl distal myopathy|distal muscular dystrophy|Miyoshi muscular dystrophy DOID:11720|OMIM:613319|NCIT:C84675|OMIM:160300|Orphanet:599|OMIM:607569|Orphanet:59135|Orphanet:399086|OMIM:610099|OMIM:613318|OMIM:606768|ICD10:G71.0|Orphanet:63273|OMIM:614065|OMIM:254130|OMIM:160500|OMIM:614321|Orphanet:399096|SCTID:58795000|UMLS:C0751336 owl:Class MONDO:0012492 biolink:NamedThing restless legs syndrome, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl restless legs syndrome, susceptibility to, 3|RLS3 OMIM:610438|GARD:0010270 owl:Class GO:0071901 biolink:NamedThing negative regulation of protein serine/threonine kinase activity Any process that decreases the rate, frequency, or extent of protein serine/threonine kinase activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071900 biolink:NamedThing regulation of protein serine/threonine kinase activity Any process that modulates the rate, frequency, or extent of protein serine/threonine kinase activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002329 biolink:NamedThing Drowsiness Excessive daytime sleepiness. tmpaxzxjjyw_mondo_relaxed.owl Drowsiness|Sleepy MSH:D012894|SNOMEDCT_US:271782001|UMLS:C0013144|SNOMEDCT_US:79519003 human_phenotype owl:Class MONDO:0100284 biolink:NamedThing X-linked intellectual disability An X-linked intellectual deficiency in which not enough information is known, reported or published to indicate whether a gene causes non-syndromic or syndromic presentations. tmpaxzxjjyw_mondo_relaxed.owl X-linked intellectual disability http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2670 owl:Class UBERON:0003910 biolink:NamedThing splenic sinusoid tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003909 biolink:NamedThing sinusoid tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001493 biolink:NamedThing axillary nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051224 biolink:NamedThing negative regulation of protein transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of protein transport|downregulation of protein transport|down regulation of protein transport|inhibition of protein transport owl:Class MONDO:0008457 biolink:NamedThing spinocerebellar ataxia type 6 Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. tmpaxzxjjyw_mondo_relaxed.owl SCA6|autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A|spinocerebellar ataxia type 6|CACNA1A autosomal dominant cerebellar ataxia type III|spinocerebellar ataxia 6 NCIT:C142838|UMLS:C0752124|ICD10:G11.2|DOID:0050956|Orphanet:98758|GARD:0010351|OMIM:183086|SCTID:715752006 https://rarediseases.info.nih.gov/diseases/10351/spinocerebellar-ataxia-type-6 owl:Class MONDO:0010832 biolink:NamedThing Bardet-Biedl syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome type 3|Bardet-Biedl syndrome 3|BBS3 DOID:0110125|OMIM:600151|Orphanet:110|ICD10:Q87.89|MESH:C537911|OMIM:209900|UMLS:C1859564|GARD:0000822 https://rarediseases.info.nih.gov/diseases/822/bardet-biedl-syndrome-3 owl:Class GO:0070482 biolink:NamedThing response to oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009628 biolink:NamedThing response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (not derived from living organisms) stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to abiotic stress owl:Class MONDO:0001009 biolink:NamedThing solitary cyst of breast A single, fluid-filled cyst in the breast parenchyma. tmpaxzxjjyw_mondo_relaxed.owl solitary cyst of the breast|solitary cyst of breast ICD10:N60.09|DOID:10349|ICD10:N60.0|NCIT:C3378|ICD9:610.0|SCTID:266578003 owl:Class MONDO:0001011 biolink:NamedThing breast cyst A cystic lesion located in breast tissue. tmpaxzxjjyw_mondo_relaxed.owl cyst of the breast MESH:D047688|EFO:1000848|ICD10:N60.0|SCTID:399294002|NCIT:C5315|DOID:10350 owl:Class MONDO:0000271 biolink:NamedThing tuberculous salpingitis An urogenital tuberculosis involving a pathogenic inflammatory response in the fallopian tube. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube tuberculosis ICD9:016.6|ICD9:016.60|ICD10:A18.17|SCTID:49558004|DOID:0050166|UMLS:C0275933 owl:Class MONDO:0006002 biolink:NamedThing urogenital tuberculosis A general term for mycobacterium infections of any part of the urogenital system in either the male or the female. tmpaxzxjjyw_mondo_relaxed.owl genitourinary system tuberculosis|genitourinary tuberculosis SCTID:4445009|DOID:2149|ICD10:A18.1|MESH:D014401|ICD9:016.92|ICD9:016.90|UMLS:C0041333|ICD9:016|ICD9:016.9|EFO:0007531|ICD10:A18.10 Editor note: in ORDO this is classified 'rare disorder with obstructive azoospermia' but this is male specific, so we move to the male-specific subclass owl:Class MONDO:0021826 biolink:NamedThing aerobic Actinomyces infection Infection with the less common aerobic antinomyces bacteria. tmpaxzxjjyw_mondo_relaxed.owl MESH:C538054|UMLS:C2931717|GARD:0009779 https://rarediseases.info.nih.gov/diseases/9779/aerobic-actinomyces-infection owl:Class GO:2000082 biolink:NamedThing regulation of L-ascorbic acid biosynthetic process Any process that modulates the frequency, rate or extent of L-ascorbic acid biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of L-ascorbic acid synthesis|regulation of vitamin C biosynthetic process|regulation of ascorbate biosynthetic process|regulation of L-ascorbic acid anabolism|regulation of vitamin C biosynthesis|regulation of ascorbate biosynthesis|regulation of L-ascorbic acid formation|regulation of L-ascorbic acid biosynthesis owl:Class MONDO:0002386 biolink:NamedThing mixed epithelial stromal tumor of the kidney A rare, usually benign neoplasm that arises from the kidney. It usually affects females. It is characterized by the presence of a biphasic pattern with tubular and cystic structures in a spindle cell stroma. Patients usually present with flank pain and hematuria. tmpaxzxjjyw_mondo_relaxed.owl benign MEST|mixed epithelial stromal tumor of the kidney|mixed epithelial and stromal tumour of kidney|adult mesoblastic nephroma|MEST DOID:2678|NCIT:C37263|UMLS:C1272677|EFO:1000381 owl:Class MONDO:0008716 biolink:NamedThing acrogeria A congenital skin condition characterized by premature aging, more especially in the form of unusually fragile, thin skin on the hands and feet. Its onset is in early childhood; it progresses over the next few years and then remains stable. A bruising tendency has been observed. tmpaxzxjjyw_mondo_relaxed.owl acrogeria, Gottron type|Gottron syndrome|familial acrogeria|acrometageria|Metageria Orphanet:2500|SCTID:238872007|UMLS:C0406584|OMIM:201200|ICD10:L90.8|ICD9:259.8|MESH:C538187|UMLS:C0238590|GARD:0006543 owl:Class MONDO:0000666 biolink:NamedThing associative visual agnosia An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the abilty to describe them. tmpaxzxjjyw_mondo_relaxed.owl associative agnosia DOID:0060136 owl:Class UBERON:0034681 biolink:NamedThing vocal organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0044325 biolink:NamedThing transmembrane transporter binding Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl ion channel binding owl:Class CL:0001025 biolink:NamedThing Kit-positive, Sca1-positive common lymphoid progenitor A common lymphoid progenitor that is Kit-low, FLT3-positive, IL7ralpha-positive, and SCA1-low. tmpaxzxjjyw_mondo_relaxed.owl CD217-positive common lymphoid precursor|CD217-positive common lymphocyte progenitor|CD217-positive common lymphocyte precursor Markers are associated with mouse cells. cell owl:Class HGNC:8149 biolink:NamedThing OPLAH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007805 biolink:NamedThing hypotrichosis 2 Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene. tmpaxzxjjyw_mondo_relaxed.owl Htss|CDSN hypotrichosis|hypotrichosis, Spanish type|hypotrichosis type 2|hypotrichosis 2|Spanish type hypotrichosis|hypt2|hypotrichosis caused by mutation in CDSN|hypotrichosis simplex of the scalp 1|HYPT2 MESH:C564143|Orphanet:90368|OMIM:146520|DOID:0110699 owl:Class MONDO:0008881 biolink:NamedThing kyphomelic dysplasia Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome. tmpaxzxjjyw_mondo_relaxed.owl kyphomelic dysplasia|congenital bowing with short bones|bowing, congenital, with short bones SCTID:254096001|GARD:0010149|UMLS:C0432239|ICD9:733.29|OMIM:211350|Orphanet:1801|MESH:C538128 https://rarediseases.info.nih.gov/diseases/10149/kyphomelic-dysplasia owl:Class MONDO:0020587 biolink:NamedThing factor XI deficiency A coagulation disorder characterized by the partial or complete absence of factor XI activity in the blood. tmpaxzxjjyw_mondo_relaxed.owl factor XI deficiency NCIT:C131739|SCTID:767713001 owl:Class CHEBI:38497 biolink:NamedThing respiratory-chain inhibitor tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021943 biolink:NamedThing tuberculoma A tumor-like mass resulting from the enlargement of a tuberculous lesion. tmpaxzxjjyw_mondo_relaxed.owl Tuberculomas|Tuberculoma SCTID:15202009|UMLS:C0041295|MESH:D014375 owl:Class MONDO:0007463 biolink:NamedThing distal osteosclerosis tmpaxzxjjyw_mondo_relaxed.owl osteosclerosis, distal|distal osteosclerosis MESH:C565093|UMLS:C1852063|OMIM:126250 owl:Class MONDO:0020195 biolink:NamedThing excretory apparatus of the lacrimal system anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98605 owl:Class MONDO:0008944 biolink:NamedThing Joubert syndrome 1 Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene. tmpaxzxjjyw_mondo_relaxed.owl cerebellooculorenal syndrome 1|INPP5E Joubert syndrome|Cerebellooculorenal syndrome 1|CORS1|Joubert syndrome|Joubert syndrome type 1|JBTS1|Joubert-Boltshauser syndrome|CPD4|Joubert syndrome caused by mutation in INPP5E|cerebelloparenchymal disorder 4|Joubert syndrome 1 UMLS:CN119531|DOID:0110980|Orphanet:475|OMIM:213300 owl:Class MONDO:0002170 biolink:NamedThing chronic eustachian salpingitis Chronic form of otosalpingitis. tmpaxzxjjyw_mondo_relaxed.owl otosalpingitis, chronic|chronic eustachian tube salpingitis|chronic otosalpingitis ICD9:381.52|UMLS:C0155430|ICD10:H68.029|SCTID:194269002|ICD10:H68.02|DOID:1999 owl:Class MONDO:0010875 biolink:NamedThing pachydermodactyly, familial tmpaxzxjjyw_mondo_relaxed.owl pachydermodactyly, familial OMIM:600356|MESH:C563947|UMLS:C1838218 owl:Class MONDO:0019042 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome tmpaxzxjjyw_mondo_relaxed.owl MCAHS Orphanet:68341 owl:Class UBERON:0010345 biolink:NamedThing 4th arch mesenchyme from head mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010574 biolink:NamedThing syndromic X-linked intellectual disability 5 X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. tmpaxzxjjyw_mondo_relaxed.owl X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome|intellectual disability, X-linked, syndromic 21|mental retardation, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|mental retardation, X-linked, syndromic, fried type|syndromic X-linked intellectual disability type 5|intellectual disability X-linked with Dandy-Walker malformation basal ganglia disease and seizures|PETTIGREW syndrome|syndromic X-linked intellectual disability fried type|mental retardation, X-linked syndromic 5|MRX59|mental retardation, X-linked, syndromic 21|intellectual disability, X-linked, syndromic, fried type|X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures|intellectual disability, X-linked, syndromic 5|X-linked mental retardation 59|mental retardation X-linked syndromic 5|Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures|mental retardation X-linked with Dandy-Walker malformation basal ganglia disease and seizures|X-linked intellectual disability 59|syndromic X-linked intellectual disability 21|syndromic X-linked mental retardation 21|intellectual disability, X-linked, with Dandy-Walker malformation, basal ganglia disease, and seizures|mental retardation, X-linked 59|intellectual disability X-linked syndromic 5|Pettigrew syndrome|PGS|MRXS21|mental retardation, X-linked, syndromic 5|X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome|MRXS5|intellectual disability, X-linked syndromic 5|X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - seizures|fried syndrome|syndromic X-linked mental retardation fried type|intellectual disability, X-linked 59 OMIM:304340|GARD:0008520|Orphanet:85329|UMLS:C0796254|UMLS:CN206181|DOID:0060800|ICD10:Q87.8|SCTID:719139003|ICD10:Q23.8|NCIT:C124839|Orphanet:1568|Orphanet:85335 Editor note: check relationship to friend syndrome owl:Class MONDO:0002167 biolink:NamedThing rectum malignant melanoma An aggressive malignant melanocytic neoplasm that arises from the rectum. tmpaxzxjjyw_mondo_relaxed.owl malignant melanoma of rectum|rectal malignant melanoma|melanoma (disease) of rectum|melanoma of rectum|rectal melanoma|rectum melanoma (disease)|rectum melanoma|malignant melanoma of the rectum|melanoma of the rectum DOID:1992|SCTID:276822007|UMLS:C0349539|NCIT:C4640 owl:Class MONDO:0019999 biolink:NamedThing intestinal malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:97945 owl:Class HGNC:4982 biolink:NamedThing HMBS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005289 biolink:NamedThing paranasal sinus neoplasm A benign or malignant neoplasm that affects the paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl tumor of the accessory sinus|tumor of paranasal sinus|tumor of accessory sinus|neoplasm of the paranasal sinus|neoplasm of accessory sinus|neoplasm of paranasal sinus|tumor of the paranasal sinus|paranasal sinus neoplasms|paranasal sinus tumor|neoplasm of the accessory sinus|accessory sinus tumor|paranasal sinus neoplasm (disease)|paranasal sinus neoplasm|accessory sinus neoplasm paranasal sinus neoplasm (disease) DOID:1350|EFO:0003866|SCTID:126675008|UMLS:C0030470|NCIT:C7488|HP:0030072 owl:Class UBERON:0014385 biolink:NamedThing aryepiglottic fold tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020572 biolink:NamedThing complex regional pain syndrome type 2 Complex regional pain syndrome type 2 (CRPS2), or causalgia is a form of complex regional pain syndrome that develops after damage to a peripheral nerve and is characterized by spontaneous pain, allodynia and hyperalgesia, not necessarily limited to the territory of the injured nerve, as well as at some point, edema, changes in skin blood flow or sudomotor dysfunction in the pain area. tmpaxzxjjyw_mondo_relaxed.owl Complex regional pain syndrome II|Complex regional pain syndrome, type II|causalgia|CRPS II SCTID:408751001|UMLS:C0007462|DOID:3222|NCIT:C121572|EFO:1000854|ICD10:G56.4|Orphanet:99994|MedDRA:10007825|MedDRA:10064335|MESH:D002422 owl:Class MONDO:0005535 biolink:NamedThing oral Crohn disease Crohn's disease affecting the mouth. tmpaxzxjjyw_mondo_relaxed.owl oral Crohn's disease EFO:0005625|SCTID:196578009|UMLS:C0399497 owl:Class MONDO:0016674 biolink:NamedThing 46,XY partial gonadal dysgenesis 46,XY partial gonadal dysgenesis (46,XY PGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that results in genital ambiguity of variable degree ranging from almost female phenotype to almost male phenotype in a patient carrying a male 46,XY karyotype. tmpaxzxjjyw_mondo_relaxed.owl 46,XY PGD|46,XY partial testicular dysgenesis OMIM:613762|OMIM:612965|SCTID:725045004|Orphanet:251510|OMIM:300018|UMLS:C4510744|OMIM:615542|OMIM:616067|OMIM:154230|OMIM:616425|ICD10:Q56.1 Editor note: todo - make disjoint with complete form (some classes inherit from both) owl:Class UBERON:0001645 biolink:NamedThing trigeminal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016903 biolink:NamedThing oxidoreductase activity, acting on the aldehyde or oxo group of donors Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase activity, acting on the aldehyde or oxo group of donors, other acceptors owl:Class GO:0016491 biolink:NamedThing oxidoreductase activity Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase activity, acting on other substrates|redox activity owl:Class MONDO:0032829 biolink:NamedThing neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities|NEDHIB|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES OMIM:618603 owl:Class UBERON:0002772 biolink:NamedThing olfactory sulcus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25557 biolink:NamedThing PRMT7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009372 biolink:NamedThing encephalopathy due to hydroxykynureninuria Encephalopathy due to hydroxykynureninuria is characterised by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway. tmpaxzxjjyw_mondo_relaxed.owl hydroxykynureninuria|kynureninase deficiency|Xanthurenic aciduria|kynureninase deficiency, partial ICD10:E70.8|Orphanet:79155|GARD:0010039|SCTID:72945002|OMIM:236800|ICD9:270.2|MESH:C536081|UMLS:C0268474 owl:Class MONDO:0010034 biolink:NamedThing anosmia for butyl mercaptan tmpaxzxjjyw_mondo_relaxed.owl skunk N-butyl mercaptan, inability to smell|skunk N-BUTYLMERCAPTAN, inability to smell OMIM:270350 Editor note: consider obsoleting and replacing with OBA trait owl:Class NCBITaxon:10242 biolink:NamedThing Orthopoxvirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10241 biolink:NamedThing Chordopoxvirinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0016522 biolink:NamedThing cavity of right atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014719 biolink:NamedThing developmental and epileptic encephalopathy, 35 tmpaxzxjjyw_mondo_relaxed.owl EIEE35|DEE35|ITPA-related encephalopathy|epileptic encephalopathy, early infantile, 35|epileptic encephalopathy, early infantile, type 35 Orphanet:457375|OMIM:616647|ICD10:G40.4|UMLS:C4225256|DOID:0080458 owl:Class CL:0000502 biolink:NamedThing type D enteroendocrine cell A cell found throughout the gastrointestinal tract and in the pancreas. They secrete somatostatin in both an endocrine and paracrine manner. Somatostatin inhibits gastrin, cholecystokinin, insulin, glucagon, pancreatic enzymes, and gastric hydrochloric acid. A variety of substances which inhibit gastric acid secretion (vasoactive intestinal peptide, calcitonin gene-related peptide, cholecystokinin, beta-adrenergic agonists, and gastric inhibitory peptide) are thought to act by releasing somatostatin. tmpaxzxjjyw_mondo_relaxed.owl D cell FMA:62935 cell owl:Class CL:0000172 biolink:NamedThing somatostatin secreting cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0013282 biolink:NamedThing alpha 1-antitrypsin deficiency Alpha-1-antitrypsin deficiency is a hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis. tmpaxzxjjyw_mondo_relaxed.owl Alpha 1 antitrypsin deficiency|alpha-1-antitrypsin deficiency|A1AD|Alpha-1 antitrypsin deficiency|A-1ATD|deficiency in Alpa-1-proteinase inhibitor|AAT deficiency|ALPHA-1-antitrypsin deficiency|A1ATD|A1AT deficiency|AATD|alpha 1-antitrypsin deficiency ICD9:273.4|DOID:13372|ICD10:E88.01|Orphanet:60|SCTID:30188007|MESH:D019896|UMLS:C0221757|ICD10:E88.0|GARD:0005784|NCIT:C84397|MedDRA:10001806|OMIM:613490 https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency owl:Class MONDO:0002273 biolink:NamedThing plasma protein metabolism disease An inherited metabolic disorder that involves plasma protein metabolism malfunction. tmpaxzxjjyw_mondo_relaxed.owl DOID:2345|ICD9:273.8 owl:Class MONDO:0012123 biolink:NamedThing congenital disorder of glycosylation type 1E The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. tmpaxzxjjyw_mondo_relaxed.owl congenital disorder of glycosylation type 1e|DPM1 congenital disorder of glycosylation|CDG1E|DPM1-CDG (CDG-Ie)|CDG syndrome type Ie|carbohydrate-deficient glycoprotein syndrome type 1E|CDG-Ie|carbohydrate deficient glycoprotein syndrome type Ie|congenital disorder of glycosylation, type Ie|CDG Ie|congenital disorder of glycosylation type 1E|congenital disorder of glycosylation type Ie|CDGIe|congenital disorder of glycosylation caused by mutation in DPM1|CDG 1E|Dol-P-mannosyltransferase deficiency|DPM1-CDG Orphanet:79322|OMIM:608799|SCTID:725078006|GARD:0009831|NCIT:C126871|DOID:0080557|MESH:C535743|ICD10:E77.8 owl:Class MONDO:0014231 biolink:NamedThing juvenile onset Parkinson disease 19A Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene. tmpaxzxjjyw_mondo_relaxed.owl Parkinson disease 19B, early-onset|Park19, formerly|PARK19|Parkinson disease caused by mutation in DNAJC6|juvenile onset Parkinson disease type 19A|PARK19A|juvenile onset Parkinson disease 19A|Parkinson disease 19, juvenile-onset|juvenile onset Parkinson's disease 19A|Parkinson disease 19A, juvenile-onset|DNAJC6 Parkinson disease Orphanet:391411|ICD10:G20|DOID:0060891|OMIM:615528|UMLS:C3809811 owl:Class MONDO:0000828 biolink:NamedThing juvenile-onset Parkinson disease tmpaxzxjjyw_mondo_relaxed.owl juvenile-onset Parkinson's disease DOID:0060893 Editor notes: check onset axioms owl:Class GO:0060537 biolink:NamedThing muscle tissue development The progression of muscle tissue over time, from its initial formation to its mature state. Muscle tissue is a contractile tissue made up of actin and myosin fibers. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019644 biolink:NamedThing renal dysplasia, unilateral Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. tmpaxzxjjyw_mondo_relaxed.owl unilateral renal dysplasia HP:0008718|ICD10:Q61.4|Orphanet:93172 owl:Class MONDO:0019638 biolink:NamedThing renal dysplasia Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. tmpaxzxjjyw_mondo_relaxed.owl renal dysplasia (disease)|renal dysplasia renal dysplasia (disease) HP:0000110|Orphanet:93108|ICD10:Q61.4 owl:Class HsapDv:0000097 biolink:NamedThing 3-year-old human stage Child stage that refers to a child who is over 3 and under 4 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016940 biolink:NamedThing partial duplication of the short arm of chromosome 3 Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl partial duplication of the short arm of chromosome type 3|partial trisomy of chromosome 3p|partial trisomy of the short arm of chromosome 3|partial duplication of chromosome 3p|chromosome 3p duplication|partial trisomy 3p|trisomy 3p|3p trisomy|3p duplication|Duplication 3p Orphanet:262707|GARD:0005343|MESH:C536811 owl:Class MONDO:0021702 biolink:NamedThing alcohol amnestic disorder A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139) tmpaxzxjjyw_mondo_relaxed.owl alcohol-induced Dysmnesic psychoses|Dysmnesic psychoses, alcohol-induced|psychoses, alcohol-induced amnestic|alcohol-induced Korsakoff syndromes|alcohol-induced amnestic psychosis|syndromes, alcohol-induced Korsakoff|Korsakoff syndromes, alcohol-induced|amnestic disorder, alcohol|alcohol induced persisting amnestic disorder|Korsakoff syndrome, alcoholic|alcohol-induced amnestic syndrome|alcohol-induced Korsakoff syndrome|amnestic psychosis, alcohol-induced|alcohol induced Dysmnesic syndrome|alcohol-induced amnestic psychoses|Korsakoff syndrome, alcohol-induced|alcoholic Korsakoff syndromes|psychosis, alcohol-induced amnestic|syndromes, alcohol-induced amnestic|alcohol-induced persisting amnestic disorder|alcohol-induced amnestic syndromes|Dysmnesic syndrome, alcohol-induced|amnestic psychosis, alcohol induced|alcohol-induced Dysmnesic syndrome|alcohol induced amnestic syndrome|syndrome, alcohol amnestic|Korsakoff syndromes, alcoholic|syndromes, alcohol amnestic|alcohol amnestic syndrome|syndrome, alcohol-induced Dysmnesic|alcohol amnestic disorders|amnestic syndrome, alcohol|alcohol amnestic syndromes|alcohol induced Korsakoff syndrome|alcohol-induced Dysmnesic psychosis|Dysmnesic syndromes, alcohol-induced|amnestic psychoses, alcohol-induced|syndrome, alcoholic Korsakoff|syndromes, alcohol-induced Dysmnesic|amnestic syndrome, alcohol-induced|syndrome, alcohol-induced Korsakoff|alcohol induced amnestic psychosis|amnestic syndromes, alcohol|psychoses, alcohol-induced Dysmnesic|alcoholic Korsakoff syndrome|syndrome, alcohol-induced amnestic|syndromes, alcoholic Korsakoff|amnestic syndromes, alcohol-induced|amnestic disorders, alcohol|alcohol-induced Dysmnesic syndromes|alcohol induced Dysmnesic psychosis|psychosis, alcohol-induced Dysmnesic|Dysmnesic psychosis, alcohol-induced EFO:1001759|MESH:D000425|SCTID:73097000 owl:Class MONDO:0013563 biolink:NamedThing multiple congenital anomalies-hypotonia-seizures syndrome 1 Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene. tmpaxzxjjyw_mondo_relaxed.owl PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability|PIGN-CDG|multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN|multiple congenital anomalies - hypotonia - seizures syndrome|MCAHS1|multiple congenital anomalies-hypotonia-seizures syndrome type 1|multiple congenital anomalies-hypotonia-seizures syndrome|congenital disorder of glycosylation due to PIGN deficiency|glycosylphosphatidylinositol biosynthesis defect 3|multiple congenital anomalies-hypotonia-seizures syndrome 1 ICD10:Q87.8|Orphanet:280633|GARD:0012781|UMLS:C3279775|OMIM:614080|DOID:0080138 owl:Class GO:0070873 biolink:NamedThing regulation of glycogen metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glycogen. tmpaxzxjjyw_mondo_relaxed.owl regulation of glycogen metabolism owl:Class MONDO:0018554 biolink:NamedThing pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis (PVOD and/or PCH) constitutes a rare subgroup of pulmonary arterial hypertension (PAH) characterized by obliterative fibrosis of the small pulmonary veins and venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance and right ventricular dysfunction. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:431353|EFO:0009199|UMLS:CN237555 owl:Class GO:0007611 biolink:NamedThing learning or memory The acquisition and processing of information and/or the storage and retrieval of this information over time. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050890 biolink:NamedThing cognition The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004616 biolink:NamedThing herpetic whitlow A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2. tmpaxzxjjyw_mondo_relaxed.owl herpetic felon|Simplexvirus caused paronychia (disease)|Simplexvirus paronychia (disease) NCIT:C128402|ICD9:054.6|UMLS:C0153042|DOID:8607|SCTID:43891009 owl:Class MONDO:0005898 biolink:NamedThing paronychia An acute or chronic infection of the soft tissues around the nail. Symptoms include pain, tenderness, erythema, and swelling around the nail. Acute infection results from minor trauma to the fingertip and Staphylococcus aureus is usually the causative agent. Chronic infection is usually caused by Candida albicans. tmpaxzxjjyw_mondo_relaxed.owl paronychia inflammation|fungal nail infection|onychia and paronychia of finger|onychia and paronychia of toe|paronychia (disease)|infected nailfold|paronychia paronychia (disease) HP:0001818|DOID:13117|MESH:D010304|SCTID:71906005|UMLS:C0030578|ICD10:L03.0|ICD9:681.9|EFO:0007421|NCIT:C79702 owl:Class GO:0016854 biolink:NamedThing racemase and epimerase activity Catalysis of a reaction that alters the configuration of one or more chiral centers in a molecule. tmpaxzxjjyw_mondo_relaxed.owl racemase and epimerase activity, acting on other compounds owl:Class GO:0016853 biolink:NamedThing isomerase activity Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. tmpaxzxjjyw_mondo_relaxed.owl other isomerase activity owl:Class MONDO:0000378 biolink:NamedThing malignant Sertoli cell tumor A Sertoli cell tumor of the testis or the ovary which metastasizes to another anatomic site. tmpaxzxjjyw_mondo_relaxed.owl malignant Androblastoma|Sertoli cell tumor, malignant DOID:0050617|UMLS:C0334406|ICDO:8630/3|NCIT:C67006|ICDO:8640/3 owl:Class MONDO:0002149 biolink:NamedThing reproductive system cancer A malignant neoplasm involving the reproductive organ tmpaxzxjjyw_mondo_relaxed.owl cancer of reproductive system|malignant neoplasm of reproductive organ|reproductive organ cancer|malignant neoplasm of reproductive system|cancer of reproductive organ|malignant reproductive organ neoplasm|reproductive system cancer|reproductive tumor|malignant reproductive system neoplasm NCIT:C36076|NCIT:C3674|UMLS:C1334618|UMLS:C0178830|DOID:193 owl:Class NCBITaxon:6251 biolink:NamedThing Ascaris tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6250 biolink:NamedThing Ascarididae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0011979 biolink:NamedThing epiphysis of distal phalanx of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2309 biolink:NamedThing CPLX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001560 biolink:NamedThing hypertrophic pyloric stenosis An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration. tmpaxzxjjyw_mondo_relaxed.owl infantile hypertrophic pyloric stenosis|infantile constriction of the pylorus|infantile Hypertrophy of the pylorus|congenital or infantile stricture of pylorus|infantile stricture of the pylorus|congenital pyloric stenosis|infantile pyloric stenosis|congenital constriction of the pylorus|IHPS|congenital hypertrophic pyloric stenosis|congenital Hypertrophy of the pylorus|pyloric stenosis, infantile|congenital stricture of the pylorus ICD10:Q40.0|MESH:D046248|EFO:0004707|DOID:12638|ICD9:750.5|NCIT:C98952|SCTID:48644003 owl:Class MONDO:0015528 biolink:NamedThing congenital epulis A congenital gingival tumor that occurs along the alveolar ridge of the maxilla. It usually affects female infants. The histogenesis is unknown. Morphologically, it is characterized by the presence of large cells with eosinophilic granular cytoplasm. Complete surgical resection is curative. tmpaxzxjjyw_mondo_relaxed.owl congenital granular cell tumor|congenital gingival cell tumor|gingival granular cell tumor|congenital Epulides|Neumann tumor|congenital epulis NCIT:C4675|MESH:D005887|UMLS:C0376319|DOID:7280|SCTID:360525006|Orphanet:157826 owl:Class PATO:0002300 biolink:NamedThing increased quality A quality that has a value that is increased compared to normal or average. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009340 biolink:NamedThing non-spherocytic hemolytic anemia due to hexokinase deficiency Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia. tmpaxzxjjyw_mondo_relaxed.owl hexokinase deficiency hemolytic anemia|nonspherocytic hemolytic anemia due to hexokinase deficiency|hemolytic anemia, nonspherocytic, due to hexokinase deficiency OMIM:235700|MESH:C562995|Orphanet:90031|ICD10:D55.2|GARD:0003672 https://rarediseases.info.nih.gov/diseases/3672/nonspherocytic-hemolytic-anemia-due-to-hexokinase-deficiency owl:Class UBERON:0019267 biolink:NamedThing gray matter of midbrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:2679 biolink:NamedThing amphetamine A racemate comprising equimolar amounts of (R)-amphetamine (also known as levamphetamine or levoamphetamine) and (S)-amphetamine (also known as dexamfetamine or dextroamphetamine. tmpaxzxjjyw_mondo_relaxed.owl Amphetamine|amfetaminum|Amphetamin|Benzedrine|alpha-methylphenylethylamine|amphetamine|amphetaminium|alpha-methylbenzeneethaneamine|beta-aminopropylbenzene|beta-phenylisopropylamine|rac-amphetamine|amfetamina|anfetamina|amfetamine|rac-(2R)-1-phenylpropan-2-amine|desoxynorephedrine|1-phenyl-2-aminopropane|beta-Phenylisopropylamin|1-Phenylpropan-2-amin|Amfetamine owl:Class CHEBI:60911 biolink:NamedThing racemate A racemate is an equimolar mixture of a pair of enantiomers. tmpaxzxjjyw_mondo_relaxed.owl racemates|racemic mixture|melange racemique owl:Class MONDO:0016207 biolink:NamedThing phacoanaphylactic uveitis Intraocular inflammation occurring after extracapsular cataract extraction; probably an immune reaction to the patient's liberated lenticular proteins. tmpaxzxjjyw_mondo_relaxed.owl lens-induced endophthalmitis|Phacoallergic endophthalmitis|lens-induced iridocyclitis|Phacoantigenic endophthalmitis|lens-induced uveitis|endophthalmitis phacoanaphylactica|Phako-anaphylactic endophthalmitis UMLS:C1444621|ICD10:H20.2|SCTID:410494003|Orphanet:209959 owl:Class MONDO:0017634 biolink:NamedThing non-infectious anterior uveitis tmpaxzxjjyw_mondo_relaxed.owl non-infectious iridocyclitis UMLS:C0339317|SCTID:267619000|Orphanet:306648 owl:Class MONDO:0600025 biolink:NamedThing hydrosalpinx Fluid accumulation and dilatation of the fallopian tube due to tubal blockage. tmpaxzxjjyw_mondo_relaxed.owl blocked fallopian tube|fallopian tube obstruction NCIT:C142886 http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3249 owl:Class MONDO:0002156 biolink:NamedThing fallopian tube disorder A disease involving the fallopian tube. tmpaxzxjjyw_mondo_relaxed.owl disease of fallopian tube|fallopian tube disease or disorder|fallopian tube disorder|fallopian tube disease|disease or disorder of fallopian tube|disorder of fallopian tube UMLS:C0015556|DOID:1962|MESH:D005184|SCTID:128134005|NCIT:C26771 owl:Class MONDO:0010220 biolink:NamedThing Young syndrome Young syndrome is characterised by the association of obstructive azoospermia with recurrent sinobronchial infections. tmpaxzxjjyw_mondo_relaxed.owl young syndrome|azoospermia obstructive and chronic sinopulmonary infections|sinusitis-infertility syndrome|azoospermia-sinopulmonary infections syndrome|Barry Perkins Young syndrome|azoospermia, obstructive, and chronic sinopulmonary infections|Barry-Perkins-Young syndrome ICD10:N46|MESH:C536718|GARD:0000341|MedDRA:10063689|Orphanet:3471|ICD9:759.89|OMIM:279000|SCTID:233666007|UMLS:C0340037 https://rarediseases.info.nih.gov/diseases/341/young-syndrome owl:Class MONDO:0016536 biolink:NamedThing autosomal recessive lymphoproliferative disease A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia. tmpaxzxjjyw_mondo_relaxed.owl CD27 deficiency OMIM:615122|OMIM:613011|Orphanet:238505|ICD10:D47.9 owl:Class MONDO:0016191 biolink:NamedThing qualitative or quantitative defects of titin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209053 owl:Class MONDO:0015069 biolink:NamedThing neuroendocrine tumor of the anal canal A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the anal canal. tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine tumor of anal canal|anal canal neuroendocrine neoplasm|NET of anal canal|anal canal NET|neuroendocrine neoplasm of the anal canal|anal Neuroendocrine tumor|anal canal well differentiated tumor/carcinoma|anal canal well differentiated tumor|NET of the anal canal|anal NET|anal canal neuroendocrine tumor Orphanet:100082|NCIT:C96540|UMLS:CN197362 Editor note: TODO apply G1/G2 pattern owl:Class MONDO:0014217 biolink:NamedThing telangiectasia, hereditary hemorrhagic, type 5 Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene. tmpaxzxjjyw_mondo_relaxed.owl GDF2 hereditary hemorrhagic telangiectasia|telangiectasia, hereditary hemorrhagic, type 5|HHT5|hereditary hemorrhagic telangiectasia caused by mutation in GDF2 UMLS:C3809710|OMIM:615506|Orphanet:774 owl:Class GO:0090326 biolink:NamedThing positive regulation of locomotion involved in locomotory behavior Any process that increases the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2501931 biolink:NamedThing Orthocoronavirinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11118 biolink:NamedThing Coronaviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021469 biolink:NamedThing benign neoplasm of anus A benign neoplasm that involves the anus. tmpaxzxjjyw_mondo_relaxed.owl benign anal neoplasm|benign anal tumor|anus benign neoplasm|benign tumor of anus|benign neoplasm of the anus|benign tumor of the anus SCTID:91978004|UMLS:C0347276|NCIT:C4611 owl:Class MONDO:0044875 biolink:NamedThing coronary microvascular disorder A disorder affecting the smallest coronary arteries. Causes include atherosclerosis and arterial spasm. Chest pain is a frequently observed symptom. tmpaxzxjjyw_mondo_relaxed.owl microvascular endothelium heart disease|CMD|heart disease of microvascular endothelium|coronary microvascular disease NCIT:C84478 owl:Class MONDO:0019604 biolink:NamedThing acquired monoclonal Ig light chain-associated Fanconi syndrome A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia. tmpaxzxjjyw_mondo_relaxed.owl acquired Fanconi syndrome secondary to monoclonal gammopathy|acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome UMLS:CN206457|SCTID:724099000|UMLS:C4510369|Orphanet:91136|ICD10:E72.0 owl:Class MONDO:0004960 biolink:NamedThing monoclonal gammopathy A condition characterized by the abnormal presence of monoclonal immunoglobulins in the blood or urine. tmpaxzxjjyw_mondo_relaxed.owl MESH:D010265|SCTID:277577000|SCTID:58648008|ICD10:D47.2|DOID:7442|NCIT:C35548|SCTID:109983007|EFO:0000203|MESH:D008998 owl:Class GO:1902271 biolink:NamedThing D3 vitamins binding Binding to D3 vitamins. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005499 biolink:NamedThing vitamin D binding Binding to vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpaxzxjjyw_mondo_relaxed.owl cholecalciferol binding|calciferol binding|ergocalciferol binding owl:Class MONDO:0001280 biolink:NamedThing choroiditis An inflammatory process that affects the choroid. tmpaxzxjjyw_mondo_relaxed.owl Choroiditides|posterior uveitis|posterior uveitis (disease)|choroiditis ICD10:H30.1|MedDRA:10036370|GARD:0006062|ICD10:H30.2|HP:0012123|Orphanet:280892|SCTID:16553002|UMLS:C0042167|NCIT:C35111|ICD10:H30.8|UMLS:C0008526|MESH:D002833|ICD10:H30.9|ICD10:H30.0|DOID:11406 owl:Class MONDO:0018241 biolink:NamedThing primary short bowel syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204780|ICD10:Q41.0|Orphanet:365563 owl:Class MONDO:0009514 biolink:NamedThing Laurence-Moon syndrome A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy. tmpaxzxjjyw_mondo_relaxed.owl Laurence-MOON syndrome|LNMS|Laurence-Moon syndrome|LMS|Laurence-Moon-Biedl syndrome OMIM:245800|ICD9:253.4|MESH:D007849|DOID:1930|Orphanet:2377|GARD:0012635|ICD10:Q87.8|SCTID:5619004|SCTID:232059000|NCIT:C34760|UMLS:C0023138|MedDRA:10056710 https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome owl:Class HP:0001159 biolink:NamedThing Syndactyly Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". tmpaxzxjjyw_mondo_relaxed.owl Webbed fingers or toes MSH:D013576|UMLS:C0039075|Fyler:4174|SNOMEDCT_US:373413006 Syndactyly may be partial or complete. In complete syndactyly, the skin is joined all the way to the fingertip. In partial (incomplete) syndactyly, the skin is only joined part of the distance to the fingertip. HP:0001206|HP:0001236 human_phenotype owl:Class NCBITaxon:1489843 biolink:NamedThing Gadariae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1489841 biolink:NamedThing Zeiogadaria tmpaxzxjjyw_mondo_relaxed.owl Zeiogadiformes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021718 biolink:NamedThing polyneuritis Inflammation of several peripheral nerves. tmpaxzxjjyw_mondo_relaxed.owl inflammatory polyneuropathy|polyneuritis|Polyneuritis|Inflammatory polyneuropathy|Multiple neuritis|Polyneuritides NCIT:C26864|HP:0031003|UMLS:C0032541|GTR:AN1353837|GTR:AN1355640|SCTID:76886005 owl:Class MONDO:0015200 biolink:NamedThing anisakiasis Infection with roundworms of the genus anisakis. Human infection results from the consumption of fish harboring roundworm larvae. The worms may cause acute nausea; vomiting; or penetrate into the wall of the digestive tract where they give rise to eosinophilic granuloma in the stomach; intestines; or the omentum. tmpaxzxjjyw_mondo_relaxed.owl Anisakis simplex infection|infections, Anisakis simplex|Pseudoterranova infection|Anisakiases|Anisakis infection|infection by Anisakis larva DOID:7033|UMLS:C0162576|NCIT:C128393|EFO:0007146|MESH:D017129|MedDRA:10002533|Orphanet:1070|ICD9:127.1|SCTID:442652006|GARD:0000693|ICD10:B81.0 https://rarediseases.info.nih.gov/diseases/693/anisakiasis owl:Class GO:0031012 biolink:NamedThing extracellular matrix A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. tmpaxzxjjyw_mondo_relaxed.owl matrisome|proteinaceous extracellular matrix owl:Class MONDO:0024868 biolink:NamedThing metastatic carcinoma in the adrenal medulla A carcinoma that has spread to the adrenal medulla from an adjacent or distant anatomic site. tmpaxzxjjyw_mondo_relaxed.owl metastatic carcinoma in the adrenal medulla|metastatic carcinoma to the adrenal medulla NCIT:C9276|UMLS:C1334717 owl:Class MONDO:0024879 biolink:NamedThing metastatic carcinoma A carcinoma which has spread from the original site of growth to another anatomic site. tmpaxzxjjyw_mondo_relaxed.owl metastatic carcinoma UMLS:C1384494|ICDO:8010/6|NCIT:C3482 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class MONDO:0016195 biolink:NamedThing qualitative or quantitative defects of beta-myosin heavy chain (MYH7) tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209185 owl:Class CL:2000011 biolink:NamedThing dermis lymphatic vessel endothelial cell Any endothelial cell of lymphatic vessel that is part of a dermis. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-04T15:15:08Z cell owl:Class CL:0002138 biolink:NamedThing endothelial cell of lymphatic vessel A endothelial cell of a lymphatic vessel. The border of the oak leaf-shaped endothelial cell of initial lymphatics are joined by specialized buttons. The discontinuous feature of buttons distinguishes them from zippers in collecting lymphatics, but both types of junctions are composed of proteins typical of adherens junctions and tight junctions found in the endothelium of blood vessels. Buttons seal the sides of flaps of the oak leaf-shaped endothelial cell, leaving open the tips of flaps as routes for fluid entry without disassembly and reformation of intercellular junctions. tmpaxzxjjyw_mondo_relaxed.owl LEC|lymphatic endothelial cell BTO:0004167|FMA:68458 tmeehan 2010-08-24T02:05:28Z CL:1000421 cell owl:Class MONDO:0024555 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts 1 tmpaxzxjjyw_mondo_relaxed.owl Van Der Knaap disease|Vacuolating megalencephalic leukoencephalopathy with subcortical cysts|megalencephalic leukoencephalopathy with subcortical cysts 1|leukoencephalopathy with swelling and cysts|VL|MLC1|Lvm Orphanet:2478|OMIM:604004|DOID:0080316 owl:Class OBO:CHR_9606-chr2q32-q33 biolink:NamedThing 2q32-q33 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0002261 biolink:NamedThing keratopathy Any disorder of the cornea. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27012|UMLS:C0235270|DOID:2283 owl:Class MONDO:0020078 biolink:NamedThing acute myeloid leukemia with recurrent genetic anomaly A group of acute myeloid leukemias characterized by recurrent genetic abnormalities, mainly balanced translocations. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl acute myeloid Leukemia with recurrent Genetic abnormalities|AML with recurrent genetic anomaly|acute myeloid Leukemia with balanced Translocations/Inversions|AML with recurrent Genetic abnormalities 2022-03-01 GARD:0012758|ONCOTREE:AMLRGA|OMIM:601626|Orphanet:98277|NCIT:C7175 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: acute myeloid leukemia' MONDO_0018874 https://rarediseases.info.nih.gov/diseases/12758/acute-myeloid-leukemia-with-recurrent-genetic-anomaly owl:Class MONDO:0009772 biolink:NamedThing oculorenocerebellar syndrome tmpaxzxjjyw_mondo_relaxed.owl absence of the cerebellar granular layer, intellectual disability, tapetoretinal degeneration and progressive glomerulopathy|ORC syndrome|oculorenocerebellar syndrome|absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy GARD:0004050|Orphanet:2715|OMIM:257970|UMLS:C1850331|MESH:C537739 https://rarediseases.info.nih.gov/diseases/4050/oculorenocerebellar-syndrome owl:Class UBERON:0014768 biolink:NamedThing superior palpebral vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014769 biolink:NamedThing palpebral vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016831 biolink:NamedThing linear verrucous nevus syndrome tmpaxzxjjyw_mondo_relaxed.owl linear hamartoma syndrome Orphanet:2611|ICD10:Q82.5|GARD:0003259|UMLS:CN202159 owl:Class UBERON:0036301 biolink:NamedThing vasculature of spleen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044319 biolink:NamedThing intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}). tmpaxzxjjyw_mondo_relaxed.owl intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies|IDDFSDA UMLS:C4479520|Orphanet:505237|OMIM:617452 owl:Class MONDO:0021834 biolink:NamedThing Akaba Hayasaka syndrome A syndrome characterized by frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia. tmpaxzxjjyw_mondo_relaxed.owl frontal bossing, cloudy corneae, low nasal ridge, and micrognathia, hypoplastic thorax, and rhizomelic micromelia UMLS:C2930948|GARD:0000577|MESH:C535609 https://rarediseases.info.nih.gov/diseases/577/akaba-hayasaka-syndrome owl:Class NCBITaxon:318479 biolink:NamedThing Dracunculus medinensis tmpaxzxjjyw_mondo_relaxed.owl Guinea worm|dracunculiasis worm|Guinea worm disease nematode GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:318478 biolink:NamedThing Dracunculus tmpaxzxjjyw_mondo_relaxed.owl Dracunculus GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004323 biolink:NamedThing middle phalanx of manual digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032903 biolink:NamedThing arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum tmpaxzxjjyw_mondo_relaxed.owl AMCNACC|arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum|Zain Syndrome OMIM:618766 owl:Class HGNC:7103 biolink:NamedThing MIP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000946 biolink:NamedThing psychologic vaginismus Involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. tmpaxzxjjyw_mondo_relaxed.owl functional vaginismus|psychogenic vaginismus|non-organic vaginismus ICD9:306.51|SCTID:71787009|ICD10:F52.5|NCIT:C35113|DOID:10131 owl:Class MONDO:0021723 biolink:NamedThing vaginismus Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection. tmpaxzxjjyw_mondo_relaxed.owl myalgia of pelvic floor|vaginismus UMLS:C2004487|NCIT:C78703|ICD10:N94.2|MESH:D052065 owl:Class MONDO:0012901 biolink:NamedThing inherited prekallikrein deficiency An instance of prekallikrein deficiency that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl prekallikrein deficiency, congenital|congenital prekallikrein deficiency|prekallikrein deficiency|Fletcher Factor deficiency|hereditary prekallikrein deficiency|PKK deficiency GARD:0004477|ICD9:286.9|Orphanet:749|MESH:C562725|OMIM:612423|ICD10:D68.8 https://rarediseases.info.nih.gov/diseases/4477/prekallikrein-deficiency-congenital owl:Class MONDO:0014287 biolink:NamedThing short-rib thoracic dysplasia 11 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. tmpaxzxjjyw_mondo_relaxed.owl SRTD11|short-rib thoracic dysplasia 11 with or without polydactyly UMLS:C3810200|OMIM:615633|DOID:0110095|Orphanet:93271|Orphanet:474|ICD10:Q77.2 owl:Class MONDO:0018669 biolink:NamedThing snakebite envenomation tmpaxzxjjyw_mondo_relaxed.owl snake venom causing toxic effect|poisoning by venomous snake|snake bite poisoning|poisoning caused by venomous snake|snake venom poisoning|toxic effect of bite of venomous snake Orphanet:449285|SCTID:61288004|UMLS:CN237735|ICD10:T63.0 owl:Class CL:1000481 biolink:NamedThing transitional myocyte of atrioventricular bundle A transitional myocyte that is part of the atrioventricular bundle. tmpaxzxjjyw_mondo_relaxed.owl FMA:83388|FMA:83885 cell owl:Class CL:0010005 biolink:NamedThing atrioventricular bundle cell A specialized cardiomyocyte that transmit signals from the AV node to the cardiac Purkinje fibers. tmpaxzxjjyw_mondo_relaxed.owl AV bundle cell owl:Class GO:0050769 biolink:NamedThing positive regulation of neurogenesis Any process that activates or increases the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. tmpaxzxjjyw_mondo_relaxed.owl upregulation of neurogenesis|up-regulation of neurogenesis|up regulation of neurogenesis|stimulation of neurogenesis|activation of neurogenesis owl:Class MONDO:0000283 biolink:NamedThing Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type tmpaxzxjjyw_mondo_relaxed.owl Korean hemorrhagic fever DOID:0050200 owl:Class MONDO:0005784 biolink:NamedThing hantavirus hemorrhagic fever with renal syndrome A disorder caused by hantaviruses of the family Bunyaviridae. It is transmitted by rodents and is manifested with fever, hemorrhage, and renal failure. Other symptoms include headaches, abdominal and back pain, and blurred vision. tmpaxzxjjyw_mondo_relaxed.owl HFRS|hemorrhagic nephrosonephritis|hemorrhagic fever, Russian|Puumala virus nephropathy|hemorrhagic fever with renal syndrome ICD9:078.6|NCIT:C84753|ICD10:A98.5|EFO:0007299|DOID:11266|SCTID:102455002 owl:Class MONDO:0009672 biolink:NamedThing spinal muscular atrophy, type III Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy, type 3|Kugelberg-Welander disease|spinal muscular atrophy III|spinal muscular atrophy type 3|SMA type 3|SMA 3|proximal spinal muscular atrophy type 3|KWS|Sma 3|childhood spinal muscular atrophy|muscular atrophy, juvenile|spinal muscular atrophy, familial|SMA-III|spinal muscular atrophy, type III|juvenile spinal muscular atrophy|type III spinal muscular atrophy|SMA3|spinal muscular atrophy, mild childhood and adolescent form|Kugelberg-Welander syndrome|SMA type III|spinal muscular atrophy of childhood|pediatric spinal muscular atrophy UMLS:C0700595|ICD10:G12.1|ICD9:335.11|NCIT:C118847|Orphanet:83419|DOID:12376|OMIM:253400|UMLS:C0152109|Orphanet:70|GARD:0000198|SCTID:54280009 owl:Class MONDO:0003506 biolink:NamedThing pulmonary artery choriocarcinoma A rare choriocarcinoma that arises from a pulmonary artery. tmpaxzxjjyw_mondo_relaxed.owl choriocarcinoma of the pulmonary artery|choriocarcinoma of pulmonary artery|pulmonary artery syncytioma|syncytioma of the pulmonary artery|chorioepithelioma of the pulmonary artery|syncytioma of pulmonary artery|chorioepithelioma of pulmonary artery|pulmonary artery chorioepithelioma|pulmonary artery choriocarcinoma|pulmonary artery choriocarcinoma (disease) DOID:5547|NCIT:C5381|UMLS:C1335571 owl:Class MONDO:0018408 biolink:NamedThing cystic echinococcosis tmpaxzxjjyw_mondo_relaxed.owl Echinococcus granulosus infection|echinococcus granulosus infectious disease of liver|Hydatidosis|echinococcus granulosus|liver echinococcus granulosus|unilocular hydatid disease|Echinococcus granulosus infection of lung|Echinococcus granulosus infectious disease of liver|Echinococcus granulosus infection of thyroid|thyroid echinococcus granulosus|unilocular echinococcosis|lung echinococcus granulosus|echinococcus granulosus infectious disease of thyroid|hydatid disease ICD10:B67.8|ICD10:B67.7|Orphanet:400|ICD10:B67.1|UMLS:C0013502|UMLS:C4303092|ICD10:B67.5|ICD10:B67.0|ICD10:B67.3|SCTID:721822004|MESH:D004443|SCTID:75006000|MedDRA:10014096|ICD10:B67.6|GARD:0002764|ICD9:122.4|DOID:1495|ICD10:B67.2|ICD10:B67.4|UMLS:C0153290|UMLS:C0152068|UMLS:C0153291|ICD10:B67.9 owl:Class MONDO:0044346 biolink:NamedThing echinococcus granulosus infectious disease An disease or disorder caused by infection with Echinococcus granulosus. tmpaxzxjjyw_mondo_relaxed.owl Echinococcus granulosus infectious disease|Echinococcus granulosus disease or disorder|echinococcus granulosus infection|echinococcus granulosus infectious disease|Echinococcus granulosus caused disease or disorder|unilocular hydatid disease SCTID:75006000|ICD9:122.4|UMLS:C0152068|ICD9:122.3 owl:Class MONDO:0009752 biolink:NamedThing neuropathy, painful tmpaxzxjjyw_mondo_relaxed.owl neuropathy, painful UMLS:C1850383|OMIM:256870|MESH:C564945 owl:Class NCBITaxon:5873 biolink:NamedThing Theileria tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:27994 biolink:NamedThing Theileriidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0060548 biolink:NamedThing negative regulation of cell death Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045915 biolink:NamedThing positive regulation of catecholamine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving catecholamine. tmpaxzxjjyw_mondo_relaxed.owl stimulation of catecholamine metabolic process|up-regulation of catecholamine metabolic process|up regulation of catecholamine metabolic process|positive regulation of catecholamine metabolism|activation of catecholamine metabolic process|upregulation of catecholamine metabolic process owl:Class GO:0097712 biolink:NamedThing vesicle targeting, trans-Golgi to periciliary membrane compartment The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048199 biolink:NamedThing vesicle targeting, to, from or within Golgi The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. tmpaxzxjjyw_mondo_relaxed.owl Golgi vesicle targeting|dictyosome vesicle targeting|vesicle targeting, to, from or within dictyosome owl:Class MONDO:0008421 biolink:NamedThing flat face-microstomia-ear anomaly syndrome Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994. tmpaxzxjjyw_mondo_relaxed.owl Simosa-Penchaszadeh-Bustos syndrome|blepharophimosis-telecanthus-microstomia syndrome|SIMOSA craniofacial syndrome|Simosa cranio facial syndrome UMLS:C1866962|OMIM:182150|MESH:C537339|Orphanet:1968|GARD:0004873|ICD10:Q87.0 owl:Class MONDO:0008596 biolink:NamedThing trichorhinophalangeal syndrome type I An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. tmpaxzxjjyw_mondo_relaxed.owl trichorhinophalangeal syndrome type 1|trichorhinophalangeal syndrome type I|trichorhinophalangeal syndrome, type 1|TRPS 1|type III trichorhinophalangeal syndrome|trichorhinophalangeal dysplasia type I|TRPS1|trichorhinophalangeal syndrome, type I|Giedion syndrome|type I trichorhinophalangeal syndrome|Sugio-Kajii syndrome NCIT:C75109|MESH:C536820|SCTID:254091006|DOID:14743|OMIM:190350|ICD9:759.89|OMIM:190351|GARD:0007800|Orphanet:77258 owl:Class HGNC:3683 biolink:NamedThing FGF5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005982 biolink:NamedThing tinea infection A skin infection caused by a fungus. tmpaxzxjjyw_mondo_relaxed.owl ringworm|Tinea infectious disease|Tinea disease or disorder|Tinea infection|Tinea|Tinea caused disease or disorder EFO:0007510|UMLS:C0040247|NCIT:C112181 Editor note: consider obsoleting as this is a loose grouping owl:Class MONDO:0014590 biolink:NamedThing congenital myasthenic syndrome 18 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital myasthenic syndrome caused by mutation in SNAP25|SNAP25 congenital myasthenic syndrome|myasthenic syndrome, congenital, 18, with intellectual disability and ataxia|CMS18|myasthenic syndrome, congenital, 18|myasthenic syndrome, congenital, type 18|congenital myasthenic syndrome type 18 OMIM:616330|UMLS:C4225364|Orphanet:98914|Orphanet:590|DOID:0110683 owl:Class GO:0060561 biolink:NamedThing apoptotic process involved in morphogenesis Any apoptotic process that contributes to the shaping of an anatomical structure. tmpaxzxjjyw_mondo_relaxed.owl morphogenetic apoptosis|apoptosis involved in morphogenesis|apoptosis involved in development owl:Class MONDO:0020310 biolink:NamedThing familial focal epilepsy with variable foci Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described. tmpaxzxjjyw_mondo_relaxed.owl familial focal epilepsy with variable foci|epilepsy, familial focal, with variable foci|familial partial epilepsy with variable foci|FFEVF OMIM:617118|OMIMPS:604364|SCTID:764522009|Orphanet:98820|GARD:0013295|OMIM:604364|OMIM:617116|UMLS:CN207131|MESH:C565785 owl:Class MONDO:0100036 biolink:NamedThing variable age onset epilepsy An epilepsy syndrome that has an onset during variable ages and stages of life. tmpaxzxjjyw_mondo_relaxed.owl variable age at onset electroclinical syndrome 2018-06-23 19:42:08+00:00 DOID:0050706|http://orcid.org/0000-0001-8486-0558 owl:Class NCBITaxon:455381 biolink:NamedThing Capillariidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6329 biolink:NamedThing Trichinellida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:6331|NCBITaxon:36085 ncbi_taxonomy owl:Class MONDO:0005178 biolink:NamedThing osteoarthritis A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity. tmpaxzxjjyw_mondo_relaxed.owl degenerative joint disease|osteoarthrosis|hypertrophic arthritis|degenerative arthritis|osteoarthrosis and allied disorder OMIM:612401|HP:0002758|MESH:D010003|OMIM:610839|OMIM:165720|OMIM:140600|OMIM:612400|OMIM:607850|SCTID:396275006|DOID:8398|ICD10:M19|EFO:0002506|GARD:0011929|ICD9:715.3|UMLS:C0029408|NCIT:C3293 https://github.com/monarch-initiative/mondo/issues/1395 owl:Class MONDO:0011963 biolink:NamedThing Joubert syndrome 2 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM216 gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome type 2|cerebellooculorenal syndrome 2|TMEM216 Joubert syndrome|JBTS2|Joubert syndrome caused by mutation in TMEM216|Cerebellooculorenal syndrome 2|CORS2|Joubert syndrome 2 Orphanet:2318|GARD:0010167|UMLS:C1842577|MESH:C536294|OMIM:608091|DOID:0110988 https://rarediseases.info.nih.gov/diseases/10167/joubert-syndrome-2 owl:Class MONDO:0010399 biolink:NamedThing chromosome Xp21 deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl Xp21 contiguous gene deletion syndrome|complex glycerol kinase deficiency|monosomy Xp21|Del(X)(p21)|chromosome Xp21 deletion syndrome|Xp21 microdeletion syndrome|Glycerol kinase deficiency-contiguous gene syndrome|Complex Glycerol kinase deficiency Orphanet:261476|UMLS:C0795887|DOID:0060427|SCTID:297257004|OMIM:300679|ICD9:277.6|ICD10:Q99.8 owl:Class MONDO:0004648 biolink:NamedThing vascular dementia A degenerative vascular disorder affecting the brain. It is caused by the blockage of the blood supply to the brain. It is manifested with decline of memory and cognitive functions. tmpaxzxjjyw_mondo_relaxed.owl multi infarct dementia|multifocal dementia|vascular dementia NCIT:C34525|ICD9:290.4|EFO:0004718|DOID:8725|UMLS:C0011269|SCTID:429998004|ICD10:F01.5|MESH:D015161|ICD10:F01|MESH:D015140|SCTID:56267009|NCIT:C34522 owl:Class MONDO:0006493 biolink:NamedThing Warthin tumor An adenoma characterized by an oncocytic, often papillary, epithelial component, dense lymphoid stroma, and cystic spaces. It occurs primarily in the parotid gland, and is the second most common benign parotid salivary gland tumor. A strong association with smoking has been reported. It typically presents as a painless swelling in the lower portion of the parotid gland. tmpaxzxjjyw_mondo_relaxed.owl Warthin tumor|papillary cystadenoma lymphomatosum (formerly)|adenolymphoma|Warthin's tumor|papillary cystadenoma lymphomatosum EFO:1000625|GARD:0008569|NCIT:C2854|SCTID:422470007|UMLS:C0001429|MESH:D000235|ICDO:8561/0 https://rarediseases.info.nih.gov/diseases/8569/warthin-tumor owl:Class MONDO:0006180 biolink:NamedThing digestive system adenoma A sporadic or less frequently familial neoplasm, arising from the glandular epithelium of the stomach, small intestine, biliary tract, colon, and rectum. It is a polypoid or flat circumscribed lesion. Morphologically, it is characterized by a proliferation of neoplastic glandular cells and it is associated with dysplasia. According to the growth pattern, it may be classified as tubular, villous, or tubulovillous. The dysplasia is classified as mild, moderate, or severe. The frequency of malignant transformation depends on the size of the lesion and the degree of dysplasia. Larger adenomas with severe dysplastic changes (sometimes called carcinoma in situ) carry a higher risk of progressing to invasive adenocarcinoma. Gastrointestinal adenomas may present as solitary or multifocal lesions. Familial adenomas tend to be multifocal and carry a higher risk of malignant transformation. tmpaxzxjjyw_mondo_relaxed.owl digestive system adenoma|digestive tract adenoma|GI adenoma|gastrointestinal adenoma EFO:1000217|DOID:4147|UMLS:C0948101|NCIT:C36207 owl:Class MONDO:0021187 biolink:NamedThing hyperlipidemia tmpaxzxjjyw_mondo_relaxed.owl hyperlipidemia|hyperlipemia|hyperlipemias|lipemia|lipidemias|lipemias|lipidemia|hyperlipidemia (disease) hyperlipidemia (disease) UMLS:CN236649|SCTID:55822004|EFO:0003774|ICD10:E78.5|UMLS:C0020473|MESH:D006949|HP:0003077|ICD9:272.4 owl:Class MONDO:0006389 biolink:NamedThing prostate rhabdomyosarcoma A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate. tmpaxzxjjyw_mondo_relaxed.owl rhabdomyosarcoma of the prostate|rhabdomyosarcoma of prostate|rhabdomyosarcoma (disease) of prostate gland|prostate rhabdomyosarcoma|prostate gland rhabdomyosarcoma|prostate gland rhabdomyosarcoma (disease) NCIT:C5522|UMLS:C1335518|EFO:1000498|DOID:3252 owl:Class MONDO:0008131 biolink:NamedThing optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant OMIM:165199|Orphanet:1215|MESH:C563497|UMLS:C1833831 owl:Class MONDO:0010913 biolink:NamedThing Caroli disease Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts. tmpaxzxjjyw_mondo_relaxed.owl congenital polycystic dilatation of intrahepatic bile ducts|cystic dilatation of the intrahepatic biliary tree|CAROLI disease, isolated|Caroli disease isolated GARD:0006002|UMLS:C1833541|ICD10:Q44.6|OMIM:600643|DOID:0050876|UMLS:C0162510|NCIT:C84619|MESH:D016767|MedDRA:10013003|SCTID:717232005|EFO:1001286|Orphanet:53035 https://rarediseases.info.nih.gov/diseases/6002/caroli-disease owl:Class MONDO:0015213 biolink:NamedThing non-syndromic visceral malformation tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic visceral malformation|isolated visceral malformation Orphanet:108971 owl:Class UBERON:0001460 biolink:NamedThing arm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008785 biolink:NamedThing upper limb segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002761 biolink:NamedThing regulation of myeloid leukocyte differentiation Any process that modulates the frequency, rate, or extent of myeloid leukocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010477 biolink:NamedThing blepharophimosis - intellectual disability syndrome, MKB type The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. tmpaxzxjjyw_mondo_relaxed.owl BMRS, MKB type|BMRS, Maat-Kievit-Brunner type|X-linked Ohdo syndrome|blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type|Ohdo syndrome, X-linked|blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type|OHDOX Orphanet:293707|ICD9:759.89|UMLS:C3698541|SCTID:699297004|OMIM:300895 owl:Class UBERON:0008835 biolink:NamedThing hepatic diverticulum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004185 biolink:NamedThing endodermal part of digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0098960 biolink:NamedThing postsynaptic neurotransmitter receptor activity Neurotransmitter receptor activity occuring in the postsynaptic membrane during synaptic transmission. tmpaxzxjjyw_mondo_relaxed.owl neurotransmitter receptor activity involved in chemical synaptic transmission owl:Class MONDO:0000670 biolink:NamedThing cortical deafness An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0392704|DOID:0060140 owl:Class MONDO:0000667 biolink:NamedThing auditory agnosia An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060137 owl:Class UBERON:0008404 biolink:NamedThing proximal tubular epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013735 biolink:NamedThing microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. tmpaxzxjjyw_mondo_relaxed.owl Zaki-Gleeson syndrome|microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome|microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome|MCHCCD OMIM:614407|Orphanet:329332|UMLS:C3280692 owl:Class MONDO:0004806 biolink:NamedThing chronic eosinophilic pneumonia Chronic inflammatory disorder of the lungs characterized by the presence of eosinophils in the interalveolar septa and alveolar spaces and peripheral blood eosinophilia. Chest x-rays reveal peripheral infiltrates. Approximately half of the patients have history of asthma or atopic disease. Signs and symptoms include fever, dyspnea, cough, and weight loss. Following treatment with corticosteroids, the eosinophilic infiltrates in the lungs disappear, resulting in dramatic clinical improvement. tmpaxzxjjyw_mondo_relaxed.owl eosinophilic pneumonia, chronic|cryptogenic pulmonary eosinophilia SCTID:233692000|NCIT:C34471|DOID:9502 owl:Class UBERON:0012466 biolink:NamedThing extraembryonic cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001657 biolink:NamedThing brain cancer A primary or metastatic malignant neoplasm affecting the brain. tmpaxzxjjyw_mondo_relaxed.owl brain neoplasm|primary brain tumor|malignant primary brain tumor|cancer of brain|cancer of the brain|malignant tumor of the brain|brain neoplasm, adult|primary malignant neoplasm of brain|malignant primary brain neoplasm|malignant tumor of brain|brain tumor, adult|primary brain neoplasm|malignant neoplasm of the brain|brain cancer|malignant brain neoplasm|adult brain tumor|malignant neoplasm of brain|adult malignant brain neoplasm|BT - brain tumour|tumor of the brain|malignant brain tumor|malignant brain tumour|neoplasm of unspecified nature of brain|brain neoplasms, malignant|malignant tumor of adult brain NCIT:C3568|ICD9:191|GARD:0009307|ICD10:C71|MESH:D001932|ICD9:191.8|ICD10:C71.9|CSP:2006-2736|SCTID:428061005|NCIT:C4952|ICD9:239.6|ICD9:191.9|DOID:1319|NCIT:C2907 owl:Class MONDO:0004227 biolink:NamedThing epididymal adenomatoid tumor A benign, usually asymptomatic small mesothelial tumor that arises from the epididymis. tmpaxzxjjyw_mondo_relaxed.owl epididymal adenomatoid tumor|benign epididymal epithelial mesothelioma|adenomatoid tumor of the epididymis|adenomatoid neoplasm of epididymis|adenomatoid tumor of epididymis|adenomatoid neoplasm of the epididymis|epididymis adenomatoid tumor NCIT:C6382|UMLS:C1333415|DOID:745|SCTID:449052009 owl:Class MONDO:0024608 biolink:NamedThing dientamoebiasis Gastrointestinal infection with organisms of the genus dientamoeba. tmpaxzxjjyw_mondo_relaxed.owl Dientamoeba caused disease or disorder|Dientamoeba infectious disease|Dientamoebiases|intestinal trichomoniasis|Dientamoeba disease or disorder MESH:D004030|DOID:946|SCTID:67915005 owl:Class HGNC:21390 biolink:NamedThing RIPPLY2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009911 biolink:NamedThing prolactin deficiency, isolated tmpaxzxjjyw_mondo_relaxed.owl prolactin deficiency, isolated SCTID:67873006|MESH:C562708|OMIM:264110|ICD9:253.4 owl:Class MONDO:0006467 biolink:NamedThing thyroid gland squamous cell carcinoma A rapidly growing primary carcinoma of the thyroid gland composed of malignant squamous cells. The clinical course is usually aggressive. tmpaxzxjjyw_mondo_relaxed.owl thyroid gland squamous cell carcinoma|squamous cell thyroid gland carcinoma UMLS:C1710177|NCIT:C46008|EFO:1000594 owl:Class MONDO:0021207 biolink:NamedThing Crohn jejunitis An Crohn disease involving a pathogenic inflammatory response in the jejunum. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267379|SCTID:91390005 owl:Class GO:0006855 biolink:NamedThing drug transmembrane transport The process in which a drug is transported across a membrane. tmpaxzxjjyw_mondo_relaxed.owl multidrug transport|drug membrane transport owl:Class GO:0015893 biolink:NamedThing drug transport The directed movement of a drug, a substance used in the diagnosis, treatment or prevention of a disease, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0044255 biolink:NamedThing cellular lipid metabolic process The chemical reactions and pathways involving lipids, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl cellular lipid metabolism owl:Class GO:1901863 biolink:NamedThing positive regulation of muscle tissue development Any process that activates or increases the frequency, rate or extent of muscle tissue development. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of muscle tissue development|up regulation of muscle tissue development|activation of muscle tissue development|upregulation of muscle tissue development owl:Class MONDO:0010777 biolink:NamedThing cardiomyopathy, infantile hypertrophic tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2748884|DOID:0111753|OMIM:500006 owl:Class OBO:CHR_9606-chr2p13.2 biolink:NamedThing 2p13.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 73300000 71300000 hg38 owl:Class HP:0033836 biolink:NamedThing Abnormal intrarenal artery morphology An anomalous structure of an artery located in the kidney. tmpaxzxjjyw_mondo_relaxed.owl Abnormal kidney arterial blood vessel morphology 2021-05-16 17:29:18+00:00 peter human_phenotype owl:Class HP:0033835 biolink:NamedThing Abnormal renal vascular morphology Anomalous structure of a blood vessel in the kidney. tmpaxzxjjyw_mondo_relaxed.owl 2021-05-16 17:27:46+00:00 peter human_phenotype owl:Class MONDO:0012505 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 2 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene. tmpaxzxjjyw_mondo_relaxed.owl PPNAD2|pigmented micronodular adrenocortical disease, primary, 2|pigmented nodular adrenocortical disease, primary, 2|PDE11A primary pigmented nodular adrenocortical disease|pigmented nodular adrenocortical disease, primary, type 2|primary pigmented nodular adrenocortical disease caused by mutation in PDE11A|Cushing syndrome, adrenal, due to PPNAD2 OMIM:610475|UMLS:C1864851|Orphanet:189439|MESH:C566472 owl:Class MONDO:0015999 biolink:NamedThing primary pigmented nodular adrenocortical disease A form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter). tmpaxzxjjyw_mondo_relaxed.owl pigmented nodular adrenocortical disease, primary|pigmented nodular adrenocortical disease|PPNAD|primary pigmented nodular adrenal dysplasia OMIMPS:610489|GARD:0010906|MESH:C566469|MESH:C566472|OMIM:614190|NCIT:C131196|OMIM:610475|UMLS:C4304832|OMIM:610489|UMLS:CN200645|DOID:0060280|SCTID:719274008|ICD10:E24.8|UMLS:C1864851|OMIM:615830|Orphanet:189439 https://rarediseases.info.nih.gov/diseases/10906/primary-pigmented-nodular-adrenocortical-disease owl:Class PATO:0001671 biolink:NamedThing increased distribution A distribution which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl high distribution owl:Class PATO:0001475 biolink:NamedThing increased position A position which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl high position owl:Class MONDO:0006998 biolink:NamedThing tonsil cancer A primary or metastatic malignant neoplasm that affects the tonsil. tmpaxzxjjyw_mondo_relaxed.owl malignant tonsil tumor|malignant tonsil neoplasm|tonsil cancer|malignant tonsillar tumor|malignant tonsillar neoplasm|malignant neoplasm of palatine tonsil|malignant neoplasm of the tonsil|malignant tumor of tonsil|malignant neoplasm of tonsil, faucial|malignant neoplasm of faucial tonsil|malignant tumor of the tonsil|malignant neoplasm of tonsil|cancer of tonsil UMLS:C0751560|ICD9:146.0|MESH:D014067|ICD10:C09|MedDRA:10044002|SCTID:363393007|ICD10:C09.9|NCIT:C4825|DOID:8858|NCIT:C7404|EFO:1001214 owl:Class MONDO:0024558 biolink:NamedThing radioulnar synostosis with amegakaryocytic thrombocytopenia 1 Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene. tmpaxzxjjyw_mondo_relaxed.owl radioulnar synostosis with amegakaryocytic thrombocytopenia 1|radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11|RUSAT1|thrombocytopenia, congenital, with radioulnar synostosis|HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|Rusat Orphanet:71289|OMIM:605432 owl:Class MONDO:0011555 biolink:NamedThing radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterised by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopaenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). tmpaxzxjjyw_mondo_relaxed.owl ATRUS syndrome|radioulnar synostosis with amegakaryocytic thrombocytopenia|RUSAT MESH:C565328|Orphanet:71289|OMIM:605432|OMIMPS:605432|ICD10:Q87.2|SCTID:721882001|OMIM:616738 owl:Class MONDO:0004938 biolink:NamedThing substance dependence The psychological or physiological need to take a substance in order to experience its effects or to avoid the effects of its absence. tmpaxzxjjyw_mondo_relaxed.owl dependence ICD9:304.60|SCTID:2403008|NCIT:C35458|DOID:9973 owl:Class MONDO:0002494 biolink:NamedThing substance-related disorder A category of psychiatric disorders which include disorders related to the taking of a drug of abuse (including alcohol, prescribed medications and recreational drugs). tmpaxzxjjyw_mondo_relaxed.owl substance-related disorder NCIT:C92203|MESH:D019966|DOID:303 owl:Class GO:0050868 biolink:NamedThing negative regulation of T cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of T cell activation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of T cell activation|downregulation of T cell activation|negative regulation of T-cell activation|inhibition of T cell activation|negative regulation of T lymphocyte activation|down-regulation of T cell activation|negative regulation of T-lymphocyte activation owl:Class UBERON:0003540 biolink:NamedThing right lung terminal bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:51570 biolink:NamedThing biotins Compounds containing a biotin (5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid) skeleton. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:38295 biolink:NamedThing azabicycloalkane tmpaxzxjjyw_mondo_relaxed.owl azabicycloalkanes owl:Class UBERON:0002290 biolink:NamedThing choroid plexus of fourth ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020180 biolink:NamedThing palpebral piliary tumor tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207040|Orphanet:98590 owl:Class MONDO:0021132 biolink:NamedThing tertiary hyperparathyroidism An overproduction of parathyroid hormone that is autonomous and often associated with chronic secondary hyperparathyroidism. tmpaxzxjjyw_mondo_relaxed.owl tertiary hyperparathyroidism UMLS:C0271858|ICD9:588.89|NCIT:C114821|SCTID:78200003 owl:Class MONDO:0001741 biolink:NamedThing hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary; primary hyperparathyroidism is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. Secondary hyperparathyroidism is caused by the chronic stimulation of the parathyroid glands in patients with chronic renal failure, rickets, and malabsorption syndromes. tmpaxzxjjyw_mondo_relaxed.owl hyperparathyroidism Orphanet:99879|MESH:D006961|EFO:0008506|SCTID:66999008|UMLS:C0020502|ICD9:252.00|ICD9:252.0|DOID:13543|ICD10:E21.3|NCIT:C48259 owl:Class MONDO:0010354 biolink:NamedThing Allan-Herndon-Dudley syndrome Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency. tmpaxzxjjyw_mondo_relaxed.owl mental retardation and muscular atrophy|MCT8-specific thyroid hormone cell Membrane transporter deficiency|ALLAN-Herndon syndrome|monocarboxylate transporter-8 deficiency|T3 resistance|intellectual disability and muscular atrophy|monocarboxylate transporter 8 deficiency|AHDS|mental retardation, X-linked, with hypotonia|Allan-Herndon-Dudley syndrome|intellectual disability, X-linked, with hypotonia|MCT8 deficiency|X-linked intellectual disability with hypotonia|X-linked intellectual disability-hypotonia syndrome|triiodothyronine resistance|T3 resisitence|Allan-Herndon syndrome|triiodothyronine resistence|ALLAN-Herndon-DUDLEY syndrome Orphanet:280270|NCIT:C118843|ICD10:G31.8|DOID:0050631|Orphanet:59|UMLS:C0795889|GARD:0005617|SCTID:702327009|ICD10:E03.1|OMIM:300523|MESH:C537047 https://rarediseases.info.nih.gov/diseases/5617/allan-herndon-dudley-syndrome owl:Class MONDO:0004230 biolink:NamedThing adenomatoid tumor A benign neoplasm arising from mesothelial cells. It is characterized by the formation of glandular and tubular patterns. It can occur in several anatomic sites including the pleura, peritoneum, and epididymis. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the mesothelium|adenomatoid tumor|benign mesothelioma|mesothelioma, benign|benign tumor of the mesothelium|benign mesothelial tumor|benign tumor of mesothelium|adenomatoid tumor, benign|adenomatoid tumor NOS (morphologic abnormality)|adenomatoid tumor (morphologic abnormality)|benign localized epithelial mesothelioma|benign neoplasm of mesothelium|benign mesothelial neoplasm ICD10:D19.9|UMLS:C0206675|ICDO:9054/0|MESH:D018254|DOID:746|NCIT:C3762|ICDO:9050/0|ICDO:9052/0 owl:Class MONDO:0005065 biolink:NamedThing mesothelioma A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos. tmpaxzxjjyw_mondo_relaxed.owl mesothelioma ICD10:C45|UMLS:C0025500|OMIM:156240|NCIT:C3234|MESH:D008654|DOID:1790|EFO:0000588 owl:Class UBERON:0001268 biolink:NamedThing peritoneal fluid tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0045014 biolink:NamedThing Hypolipidemia tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:238090007|UMLS:C0342892 HPO:skoehler human_phenotype owl:Class HP:0003119 biolink:NamedThing Abnormal circulating lipid concentration Any deviation from the normal concentration of a lipid in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl Dyslipidaemia|Dyslipidemia UMLS:C4025650|SNOMEDCT_US:370992007|MSH:D050171|UMLS:C0242339 According to CHEBI:18059 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. HP:0003611 human_phenotype owl:Class CL:0000959 biolink:NamedThing T2 B cell A transitional stage B cell that has the phenotype surface IgM-positive, surface IgD-postive, CD21-positive, CD23-positive, CD62L-negative, CD93-positive and is located in the splenic B follicles. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-positive. tmpaxzxjjyw_mondo_relaxed.owl T2 B-cell|transitional stage 2 B cell|T2 B lymphocyte|T2 B-lymphocyte T2 B cells are also reportedly CD20-positive, CD24-positive, CD38-positive, CD48-positive, CD84-positive, CD150-positive, CD244-negative, and CD352-positive. cell owl:Class CL:0000818 biolink:NamedThing transitional stage B cell An immature B cell of an intermediate stage between the pre-B cell stage and the mature naive stage with the phenotype surface IgM-positive and CD19-positive, and are subject to the process of B cell selection. A transitional B cell migrates from the bone marrow into the peripheral circulation, and then to the spleen. tmpaxzxjjyw_mondo_relaxed.owl transitional B cell|transitional stage B-lymphocyte|T1 B cell|T3 B cell|T2 B cell|transitional stage B lymphocyte|transitional stage B-cell This cell type is compatible with the HIPC Lyoplate markers for 'transitional B cell'. cell owl:Class GO:0045202 biolink:NamedThing synapse The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. tmpaxzxjjyw_mondo_relaxed.owl synaptic junction|mixed synapse|electrotonic synapse owl:Class GO:0030054 biolink:NamedThing cell junction A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11595 biolink:NamedThing TBX18 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006791 biolink:NamedThing hyperemesis gravidarum Severe, intractable vomiting during pregnancy (usually the first trimester) accompanied by dehydration, weight loss, and electrolyte imbalances. tmpaxzxjjyw_mondo_relaxed.owl hyperemesis gravidarum (disease)|pernicious vomiting of pregnancy|pregnancy pernicious vomiting|hyperemesis gravidarum hyperemesis gravidarum (disease) SCTID:14094001|MedDRA:10020614|MESH:D006939|HP:0012188|EFO:1000971|NCIT:C87084 owl:Class MONDO:0007443 biolink:NamedThing congenital unilateral hypoplasia of depressor anguli oris Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood). tmpaxzxjjyw_mondo_relaxed.owl facial paresis, partial, unilateral|isolated asymmetric crying facies|asymmetric crying facies|Cayler cardiofacial syndrome|depressor anguli oris muscle, hypoplasia of OMIM:125520|ICD10:Q87.0|ICD9:759.89|Orphanet:1166|SCTID:51409009 Editor note: TODO check relationship to 22q11.2 deletion syndrome owl:Class MONDO:0014552 biolink:NamedThing lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. tmpaxzxjjyw_mondo_relaxed.owl Meckel syndrome 12|MKS12|Meckel syndrome type 12 UMLS:C4015701|OMIM:616258|Orphanet:439897 owl:Class UBERON:0010531 biolink:NamedThing metanephros induced blastemal cells tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019449 biolink:NamedThing lissencephaly type 3-familial fetal akinesia sequence syndrome Lissencephaly type 3-familial fetal akinesia sequence syndrome is characterised by the association of microencephaly, agenesis of the corpus callosum, brainstem hypoplasia, cystic cerebellum and foetal akinesia sequence. Less than 10 cases have been described so far. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and lissencephaly type III with metacarpal bone dysplasia. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:86821|ICD10:Q04.3|UMLS:CN227635|SCTID:718719001 owl:Class MONDO:0015148 biolink:NamedThing lissencephaly type 3 tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q04.3|Orphanet:102011 owl:Class MONDO:0001109 biolink:NamedThing petrositis Inflammation of petrous bone. tmpaxzxjjyw_mondo_relaxed.owl inflammation of petrous part of temporal bone|petrous part of temporal bone inflammation|chronic petrositis|inflammation of petrous bone|acute petrositis ICD10:H70.209|MESH:D059270|UMLS:C0155448|DOID:10755|ICD10:H70.20|ICD10:H70.22|ICD10:H70.21|ICD9:383.2|ICD10:H70.2|ICD10:H70.229|SCTID:28593007|ICD9:383.20|ICD9:383.21|ICD9:383.22|ICD10:H70.219 owl:Class MONDO:0024654 biolink:NamedThing skull disorder A non-neoplastic or neoplastic disorder that affects structures of the skull. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of skull|disorder of skull|disease of skull|skull disease|skull disease or disorder|skull disorder SCTID:118945008|UMLS:C1290854|NCIT:C27655 owl:Class MONDO:0020323 biolink:NamedThing primary mediastinal large B-cell lymphoma A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl large cell lymphoma of the mediastinum|primary mediastinal B-cell lymphoma|PMBL|Med-DLBCL|mediastinal B-cell diffuse large cell lymphoma|mediastinal large B-cell lymphoma|PMLCL|mediastinal (thymic) large B-cell lymphoma|mediastinal diffuse large-cell lymphoma with sclerosis|primary mediastinal (thymic) large B-cell lymphoma|mediastinal diffuse large cell lymphoma with sclerosis|B-cell diffuse large cell lymphoma of mediastinum|B-cell diffuse large cell lymphoma of the mediastinum|primary mediastinal large B-cell lymphoma|primary mediastinal clear cell lymphoma of B-cell type MedDRA:10036710|ONCOTREE:PMBL|ICD10:C85.2|DOID:0080210|Orphanet:98838|SCTID:444910004|UMLS:C1292754|ICD10:C83.3|ICDO:9679/3|NCIT:C9280 owl:Class HGNC:8022 biolink:NamedThing NT5C2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100176 biolink:NamedThing AP-4 deficiency syndrome A genetic disorder associated with variation(s) in the AP4 genes: AP4B1, AP4E1, AP4M1, and AP4S1. The phenotypes observed in individuals with genetic variants in these genes are often complex and include intellectual disability, spastic paraplegia, microcephaly, brain abnormalities, and seizures. tmpaxzxjjyw_mondo_relaxed.owl AP-4 deficiency syndrome http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0000517 biolink:NamedThing brain stem medulloblastoma A medulloblastoma that involves the brainstem. tmpaxzxjjyw_mondo_relaxed.owl medulloblastoma of brainstem|brainstem medulloblastoma DOID:0050899 owl:Class HGNC:8091 biolink:NamedThing OAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001737 biolink:NamedThing larynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000072 biolink:NamedThing proximo-distal subdivision of respiratory tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001810 biolink:NamedThing nerve plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003714 biolink:NamedThing neural tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0003105 biolink:NamedThing negative regulation of glomerular filtration Any process that stops, prevents, or reduces the frequency, rate or extent of glomerular filtration. Glomerular filtration is the processs whereby blood is filtered by the glomerulus into the renal tubule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030858 biolink:NamedThing positive regulation of epithelial cell differentiation Any process that activates or increases the frequency, rate or extent of epithelial cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl upregulation of epithelial cell differentiation|activation of epithelial cell differentiation|up regulation of epithelial cell differentiation|up-regulation of epithelial cell differentiation|stimulation of epithelial cell differentiation owl:Class HGNC:10548 biolink:NamedThing ATXN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:5002389 biolink:NamedThing manual digit plus metapodial segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:5002544 biolink:NamedThing digit plus metapodial segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012192 biolink:NamedThing permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. tmpaxzxjjyw_mondo_relaxed.owl pancreatic and cerebellar agenesis|paca|diabetes mellitus, permanent neonatal, with cerebellar agenesis Orphanet:65288|UMLS:C1836780|OMIM:609069|MESH:C563796 owl:Class MONDO:0020428 biolink:NamedThing congenital Gerbode defect tmpaxzxjjyw_mondo_relaxed.owl Gerbode defect|left ventricular-to-right atrial communication ICD10:Q21.0|SCTID:204312002|Orphanet:99095 owl:Class ECTO:9001640 biolink:NamedThing exposure to electron donor An exposure to electron donor. tmpaxzxjjyw_mondo_relaxed.owl exposure to electron donor owl:Class ECTO:0000487 biolink:NamedThing exposure to chemical with chemical role An exposure to chemical role. tmpaxzxjjyw_mondo_relaxed.owl exposure to chemical role owl:Class MONDO:0007850 biolink:NamedThing autosomal dominant keratitis-ichthyosis-hearing loss syndrome Autosomal dominant form of KID syndrome. tmpaxzxjjyw_mondo_relaxed.owl KID syndrome, autosomal dominant|autosomal dominant KID syndrome|autosomal dominant keratitis-ichthyosis-deafness syndrome|keratitis-ichthyosis-deafness syndrome, autosomal dominant DOID:0060871|OMIM:148210|ICD10:Q80.8|UMLS:C0265336|Orphanet:477 https://github.com/monarch-initiative/mondo/issues/551 owl:Class MONDO:0019222 biolink:NamedThing inborn disorder of methionine cycle and sulfur amino acid metabolism An acquired metabolic disease that is has its basis in the disruption of sulfur amino acid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of methionine cycle and sulfur amino acid metabolism|inborn error of sulfur amino acid metabolic process|inborn sulfur amino acid metabolic process disorder|cytosolic methyl group transfer or sulfur amino acid metabolism disorder|rare inborn error of sulfur amino acid metabolic process UMLS:CN227589|SCTID:28882002|Orphanet:79173|ICD10:E72.1|ICD9:270.4 Editor note: check this owl:Class UBERON:0003316 biolink:NamedThing mesenchyme of yolk sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009771 biolink:NamedThing oculotrichodysplasia Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl oculotrichodysplasia|OTD|Cecato de Lima-Pinheiro syndrome MESH:C564934|OMIM:257960|UMLS:C1850332|SCTID:722062004|Orphanet:2718 owl:Class UBERON:0001846 biolink:NamedThing internal ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005692 biolink:NamedThing cat-scratch disease Cat scratch disease is an infectious illness caused by the bacteria bartonella (Bartonella henselae). It is believed to be transmitted by cat scratches, bites, or exposure to cat saliva. This self-limiting infectious diseaseis characterized by a bump or blister at the site of the bite or scratch and swelling and pain in the lymph nodes. Other features may include fatigue, headache, achiness, and fever. Although cat-scratch disease usually subsides without treatment, antibiotic and/or antimicrobial therapy may help speed recovery. tmpaxzxjjyw_mondo_relaxed.owl Cat scratch disease|debre-Mollaret syndrome|Cat-scratch fever|benign lymphoreticulosis|bartonellosis due to Bartonella henselae infection|Foshay-Mollaret Cat scratch fever|cat scratch fever|debre's syndrome ICD9:078.3|UMLS:CN205187|SCTID:79974007|UMLS:C0007361|Orphanet:50839|NCIT:C84620|ICD10:A28.1|GARD:0000027|DOID:11258|MESH:D002372|MedDRA:10007729|EFO:0007195 https://rarediseases.info.nih.gov/diseases/27/cat-scratch-disease owl:Class MONDO:8000011 biolink:NamedThing visceral neuropathy, familial, 1, autosomal recessive A form of chronic intestinal pseudoobstruction caused by a developmental failure of the enteric neurons to differentiate or migrate properly and manifests as a bowel obstruction. tmpaxzxjjyw_mondo_relaxed.owl pseudoobstruction chronic idiopathic intestinal neuronal type|intestinal pseudoobstruction due to neuronal disease|Argyrophil myenteric plexus, deficiency of|pseudoobstruction, chronic idiopathic intestinal, neuronal type|visceral neuropathy, familial, autosomal recessive|neuronal intestinal dysplasia, type a|NID A|Argyrophil myenteric plexus deficiency of|visceral neuropathy familial ICD10:K59.8|GARD:0003969|UMLS:C1855733|MESH:C537394|OMIM:243180|Orphanet:2978|Orphanet:99811 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0017574 biolink:NamedThing chronic intestinal pseudoobstruction Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth. tmpaxzxjjyw_mondo_relaxed.owl intestinal pseudo-obstruction, chronic|chronic intestinal pseudo-obstruction|cipo Orphanet:2978|OMIM:609629|OMIM:243180|ICD10:K59.8|SCTID:235828008|OMIM:601223|OMIM:300048|GARD:0012744 https://rarediseases.info.nih.gov/diseases/12744/chronic-intestinal-pseudoobstruction owl:Class UBERON:0001161 biolink:NamedThing body of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010457 biolink:NamedThing Ogden syndrome Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. tmpaxzxjjyw_mondo_relaxed.owl N-alpha-acetyltransferase|N acetyltransferase 1 deficiency|arylamine n-acetyltransferase 1|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|NAT1 deficiency|X-linked malformation and infantile lethality syndrome|OGDNS|Acetyl-CoA:arylamine n-acetyltransferase|Ogden syndrome|N-terminal acetyltransferase deficiency|N acetyltransferase deficiency OMIM:300855|MESH:C536107|HGNC:7645|Orphanet:276432|DOID:0050781|UMLS:C3275447|GARD:0000188 Editor note: check GARD owl:Class MONDO:0100124 biolink:NamedThing NAA10-related syndrome NAA10-related syndrome is an X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies. tmpaxzxjjyw_mondo_relaxed.owl NAA10 X-linked syndromic intellectual disability|NAA10-related syndrome|X-linked syndromic intellectual disability caused by mutation in NAA10 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0003075 biolink:NamedThing bilateral retinoblastoma Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0854914|NCIT:C8713|DOID:4650 owl:Class MONDO:0008380 biolink:NamedThing retinoblastoma A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. tmpaxzxjjyw_mondo_relaxed.owl retinoblastoma, malignant|Rb|RB - retinoblastoma|RB1|eye cancer, retinoblastoma|retinoblastoma|RB UMLS:C0035335|NCIT:C7541|ICDO:9510/3|ONCOTREE:RBL|MedDRA:10038916|OMIM:180200|GARD:0007563|Orphanet:790|ICD10:C69.2|DOID:768|SCTID:370967009|MESH:D012175 https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 owl:Class UBERON:0001749 biolink:NamedThing parenchyma of parathyroid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000734 biolink:NamedThing Ohdo syndrome and variants tmpaxzxjjyw_mondo_relaxed.owl Ohdo blepharophimosis syndrome|Ohdo syndrome OMIM:300895|UMLS:C0796094|OMIM:249620|DOID:0060289|SCTID:412787009|Orphanet:2728 owl:Class UBERON:0010574 biolink:NamedThing manual digit 5 metacarpus cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004627 biolink:NamedThing duodenitis Acute or chronic inflammation of the duodenum. Causes include bacterial and viral infections and gastroesophageal reflux disease. Symptoms include vomiting and abdominal pain. tmpaxzxjjyw_mondo_relaxed.owl duodenum inflammation|hemorrhagic duodenitis|inflammation of duodenum|duodenitis MESH:D004382|ICD9:535.60|SCTID:72007001|DOID:8643|NCIT:C94409|ICD10:K29.8|UMLS:C0013298|ICD9:535.6 owl:Class MONDO:0005055 biolink:NamedThing Kaposi's sarcoma A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS). tmpaxzxjjyw_mondo_relaxed.owl non AIDS related Kaposi sarcoma|intestinal Kaposi's sarcoma|Kaposi's sarcoma of anus|anal Kaposi's sarcoma|African lymphadenopathic Kaposi's sarcoma|cutaneous Kaposi's sarcoma|cardiac Kaposi's sarcoma|Mediterranean Kaposi sarcoma|Kaposi's sarcoma of skin|Kaposi's sarcoma of soft tissues|Kaposi's sarcoma of lung|lymphadenopathic Kaposi's sarcoma|Kaposi's sarcoma of esophagus|Kaposi's sarcoma, lung|Kaposi's sarcoma of lymph nodes|prostate Kaposi's sarcoma|gallbladder Kaposi's sarcoma|Kaposi's sarcoma of the prostate|multiple hemorrhagic sarcoma|Kaposi sarcoma herpesvirus|Kaposi's sarcoma of penis|corneal Kaposi's sarcoma|esophageal Kaposi's sarcoma|Kaposi sarcoma|Kaposi's sarcoma of cornea|Kaposi's sarcoma of soft tissue|palate Kaposi's sarcoma|Kaposi's sarcoma of palate|penis Kaposi's sarcoma|central nervous system Kaposi's sarcoma|Kaposi's sarcoma of heart|HHV8|KSHV|Kaposi's sarcoma of the gallbladder|KS|gastric Kaposi's sarcoma|Kaposi's sarcoma of the CNS|Kaposi's sarcoma of gastrointestinal sites|Kaposi's sarcoma, skin|soft tissue Kaposi's sarcoma|Kaposi's sarcoma of conjunctiva|conjunctival Kaposi's sarcoma|Kaposi's sarcoma-associated herpesvirus (KSHV)|human herpesvirus 8|Kaposi's sarcoma (disease)|pulmonary Kaposi's sarcoma|Kaposi's sarcoma of central nervous system|lymph node Kaposi's sarcoma|Kaposi's sarcoma Kaposi's sarcoma (disease) MESH:D012514|ICD9:176.9|GARD:0006814|ICD10:C46.2|NCIT:C9087|ICD10:C46.0|Orphanet:33276|ICD9:176.8|ICD9:176|ICD10:C46.1|EFO:0000558|ICD10:C46.7|ICD10:C46.9|ICD10:C46.8|ICD10:C46.3|DOID:8632|MedDRA:10023284|ICDO:9140/3|SCTID:109385007|HP:0100726|OMIM:148000 owl:Class MONDO:0054813 biolink:NamedThing Ehlers-Danlos syndrome, classic-like, 2 tmpaxzxjjyw_mondo_relaxed.owl EDSCLL2|Ehlers-Danlos syndrome, classic-like, 2 OMIM:618000|Orphanet:536532|UMLS:CN248508 owl:Class UBERON:0005740 biolink:NamedThing tunica intima of artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0040500 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 16 tmpaxzxjjyw_mondo_relaxed.owl glycosylphosphatidylinositol biosynthesis defect 16|GPIBD16|mental retardation, autosomal recessive 62|intellectual disability, autosomal recessive 62 OMIM:617816 owl:Class MONDO:0009530 biolink:NamedThing lipoid proteinosis Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications. tmpaxzxjjyw_mondo_relaxed.owl Urbach Wiethe disease|lipoid proteinosis of Urbach and Wiethe|lipoid proteinosis|hyalinosis cutis Et mucosae|Urbach-Wiethe disease|lipoproteinosis|lipid proteinosis|hyalinosis cutis et mucosae Orphanet:530|UMLS:C0023795|MESH:D008065|ICD10:E78.8|OMIM:247100|DOID:14498|ICD9:272.8|NCIT:C84829|GARD:0003268|SCTID:38692000 owl:Class MONDO:0018086 biolink:NamedThing ulerythema ophryogenesis Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection. tmpaxzxjjyw_mondo_relaxed.owl keratosis pilaris affecting the follicles of the eyebrow hairs|type of genodermatosis GARD:0005395|Orphanet:3406|OMIM:604093 https://rarediseases.info.nih.gov/diseases/5395/ulerythema-ophryogenesis owl:Class MONDO:0010928 biolink:NamedThing dwarfism, familial, with muscle spasms tmpaxzxjjyw_mondo_relaxed.owl dwarfism familial with muscle spasms|dwarfism, familial, with muscle spasms|familial dwarfism and painful muscle spasms GARD:0010610|MESH:C563447|OMIM:600771|UMLS:C1833341 https://rarediseases.info.nih.gov/diseases/10610/dwarfism-familial-with-muscle-spasms owl:Class HGNC:7758 biolink:NamedThing NEU1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011006 biolink:NamedThing hereditary spastic paraplegia 9A tmpaxzxjjyw_mondo_relaxed.owl hereditary spastic paraplegia type 9A|cataracts motor neuropathy-short stature-skeletal anomalies syndrome|autosomal dominant complex spastic paraplegia type 9A|spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux|spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|autosomal dominant spastic paraplegia 9A|cataracts with motor neuronopathy, short stature and skeletal abnormalities|spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux|AD-SPG9A|SPG9A|spastic paraplegia 9A, autosomal dominant|cataracts with motor neuronopathy, short stature, and skeletal abnormalities Orphanet:447753|Orphanet:100990|OMIM:601162|UMLS:CN237701|DOID:0110824|ICD10:G11.4|MESH:C536868 owl:Class MONDO:0016802 biolink:NamedThing mitochondrial protein import disorder tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227003|Orphanet:254834 owl:Class MONDO:0016800 biolink:NamedThing mitochondrial membrane transport disorder tmpaxzxjjyw_mondo_relaxed.owl Orphanet:254827|UMLS:CN227001 owl:Class MONDO:0004330 biolink:NamedThing leptomeningeal sarcoma A sarcoma arising from the leptomeninges. tmpaxzxjjyw_mondo_relaxed.owl leptomeninges sarcoma|sarcoma of the leptomeninges|leptomeninx sarcoma|sarcoma, leptomeningeal, malignant|sarcoma, meningeal|sarcoma of leptomeninx|leptomeningeal sarcoma|sarcoma of leptomeninges DOID:7689|NCIT:C8312|UMLS:C1384416 owl:Class MONDO:0004308 biolink:NamedThing meningeal sarcoma A rare sarcoma arising from the meninges. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of meningeal cluster|sarcoma of the meninges|meninges sarcoma|meningeal sarcoma|meningeal cluster sarcoma|sarcoma of meninges DOID:7614|NCIT:C4073|UMLS:C0302327 owl:Class MONDO:0005890 biolink:NamedThing osteitis fibrosa A disorder that is characterized by bone cysts and fractures, resulting from hyperparathyroidism. tmpaxzxjjyw_mondo_relaxed.owl Von Recklinghausen's bone disease|hyperparathyroid bone disease|osteitis fibrosa cystica generalisata|Von Recklinghausen's disease of Bone|osteitis fibrosa cystica|Von Recklinghausen disease of Bone EFO:0007413|SCTID:84727000|UMLS:C0029405|DOID:3341|NCIT:C34875|MESH:D010002 owl:Class MONDO:0000837 biolink:NamedThing bone resorption disease A disease that has its basis in the disruption of bone resorption. Bone resorption is a process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. tmpaxzxjjyw_mondo_relaxed.owl DOID:0080011|MESH:D001862 owl:Class MONDO:0006950 biolink:NamedThing retinal vasculitis Inflammation of the retinal vasculature with various causes including infectious disease; lupus erythematosus, systemic; multiple sclerosis; behcet syndrome; and chorioretinitis. tmpaxzxjjyw_mondo_relaxed.owl retinal vasculitis DOID:11563|ICD9:362.18|SCTID:77628002|EFO:1001156|MESH:D031300|MedDRA:10038905|ICD10:H35.06|UMLS:C0152026 owl:Class MONDO:0100135 biolink:NamedThing Dravet syndrome Dravet syndrome is a channelopathy with epilepsy of with onset during the first year of life, typically 4-5 months, characterized by status epilepticus and a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. Dravet differs from other channelopathies usually due to a mutation in SCN1A. tmpaxzxjjyw_mondo_relaxed.owl Dravet syndrome|DS|SME|myoclonic epilepsy, severe, of infancy SCTID:230437002|ICD9:345.10|UMLS:C0751122|NCIT:C116573|GARD:0010430|DOID:0060171|DOID:0080422 This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome owl:Class UBERON:0003315 biolink:NamedThing mesenchyme of ovary tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21176 biolink:NamedThing RMND1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011189 biolink:NamedThing lamina propria of large intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002188 biolink:NamedThing vulvar nodular hidradenoma A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl mammalian vulva nodular hidradenoma|nodular hidradenoma of mammalian vulva|vulvar nodular hidradenoma DOID:2060|NCIT:C40312|UMLS:C1520091 owl:Class MONDO:0000643 biolink:NamedThing vulvar benign neoplasm A non-metastasizing neoplasm that arises from the vulva. Representative examples include cellular angiofibroma, melanocytic nevus, nodular hidradenoma, and Bartholin gland adenoma. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of vulva|vulva benign neoplasm|benign tumor of the vulva|benign vulva neoplasm|benign vulval neoplasm|benign tumor of vulva|benign vulvar tumor|mammalian vulva benign neoplasm|benign vulva tumor|benign neoplasm of the vulva|benign vulvar neoplasm DOID:0060109|NCIT:C3611|UMLS:C0154003|SCTID:92486005 owl:Class MONDO:0010586 biolink:NamedThing X-linked Ehlers-Danlos syndrome Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far. Other reported features include congenital heart disease, hernias and short stature. Transmission is X-linked recessive. tmpaxzxjjyw_mondo_relaxed.owl EDS V|EDS5|Ehlers-Danlos syndrome, type 5|Ehlers-Danlos syndrome type 5|Ehlers-Danlos syndrome, X-linked|Ehlers-Danlos syndrome, type V|EDS 5 SCTID:67202007|Orphanet:75497|ICD10:Q79.6|UMLS:C0268341|NCIT:C141423|MESH:C536197|OMIM:305200 owl:Class GO:0097028 biolink:NamedThing dendritic cell differentiation The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003419 biolink:NamedThing mesenchyme of parotid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003643 biolink:NamedThing giant hemangioma A cavernous hemangioma characterized by the presence of hylanized vascular channels and is often associated with the presence of calcifications, fibrosis, and hemorrhage. tmpaxzxjjyw_mondo_relaxed.owl giant hemangioma DOID:5774|NCIT:C27777|UMLS:C1333817 owl:Class MONDO:0003155 biolink:NamedThing cavernous hemangioma A hemangioma characterized by the presence of cavernous vascular spaces. tmpaxzxjjyw_mondo_relaxed.owl cavernous hemangioma|cavernoma|cavernous hemangioma (morphologic abnormality)|cavernous angioma|cavernous haemangioma MESH:D006392|UMLS:C0018920|SCTID:56975005|EFO:1000151|NCIT:C3086|HP:0001048|ICDO:9121/0|DOID:483|ICD10:D18.0|SCTID:416824008 MONDO:0006124 owl:Class MONDO:0014761 biolink:NamedThing hereditary pediatric Behçet-like disease tmpaxzxjjyw_mondo_relaxed.owl AISBL|Behçet-like disease due to haploinsufficiency of A20|Behçet-like disease due to HA20|autoinflammatory syndrome, familial, Behcet-like|hereditary pediatric Behçet-like disease Orphanet:476102|OMIM:616744|UMLS:C4225218 owl:Class MONDO:0008977 biolink:NamedThing chondrosarcoma A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. tmpaxzxjjyw_mondo_relaxed.owl primary chondrosarcoma of the bone|chondrosarcoma of bone|chondrosarcoma, malignant|chondrosarcoma|chondrosarcoma (disease) chondrosarcoma (disease) ONCOTREE:CHS|UMLS:C0008479|EFO:0000333|ICDO:9220/3|ICD9:170.9|Orphanet:55880|HP:0006765|DOID:3371|MESH:D002813|OMIM:215300|ICD10:C49.9|GARD:0006055|SCTID:443520009|MedDRA:10008734|NCIT:C2946 owl:Class MONDO:0007139 biolink:NamedThing Antipyrine metabolism tmpaxzxjjyw_mondo_relaxed.owl antipyrine metabolism 2022-04-01 OMIM:107290|UMLS:C1862824 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0007269 biolink:NamedThing dilated cardiomyopathy 1A Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase. tmpaxzxjjyw_mondo_relaxed.owl familial dilated cardiomyopathy with conduction defect due to LMNA mutation|familial isolated dilated cardiomyopathy caused by mutation in LMNA|cardiomyopathy dilated with conduction defect type 1|cardiomyopathy, idiopathic dilated|dilated cardiomyopathy with conduction defect 1|dilated cardiomyopathy type 1A|cardiomyopathy, dilated, type 1A|cardiomyopathy, dilated, 1A|cardiomyopathy, familial idiopathic|dilated cardiomyopathy 1A|CDCD1|LMNA familial isolated dilated cardiomyopathy|cardiomyopathy, congestive|cardiomyopathy, dilated, with conduction defect 1 DOID:0110425|Orphanet:300751|UMLS:C1449563|OMIM:115200|ICD10:I42.0|SCTID:766883006|GARD:0001104 https://rarediseases.info.nih.gov/diseases/1104/cardiomyopathy-dilated-with-conduction-defect-type-1 owl:Class CHEBI:42485 biolink:NamedThing formyl group tmpaxzxjjyw_mondo_relaxed.owl -CH(O)|-CHO|H-CO-|methanoyl|carbaldehyde|formyl|FORMYL GROUP|aldehyde group|Fo owl:Class CHEBI:27207 biolink:NamedThing univalent carboacyl group A univalent carboacyl group is a group formed by loss of OH from the carboxy group of a carboxylic acid. tmpaxzxjjyw_mondo_relaxed.owl univalent carboxylic acyl groups|univalent carboacyl groups|univalent acyl group owl:Class HP:0000297 biolink:NamedThing Facial hypotonia Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). tmpaxzxjjyw_mondo_relaxed.owl Reduced facial muscle tone|Atony of facial musculature|Hypotonic facies|Decreased facial muscle tone|Low facial muscle tone UMLS:C1845251|UMLS:C4280646 human_phenotype owl:Class HP:0001252 biolink:NamedThing Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. tmpaxzxjjyw_mondo_relaxed.owl Muscular hypotonia|Low muscle tone|Peripheral hypotonia|Low or weak muscle tone|Muscle hypotonia|Central hypotonia MSH:D009123|SNOMEDCT_US:398152000|UMLS:C0026827|SNOMEDCT_US:398151007 Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features. HP:0011398 human_phenotype owl:Class MONDO:0007016 biolink:NamedThing vitamin A deficiency Deficiency of vitamin A due to malnutrition, malabsorption, or dietary lack. It is manifested with reduced night vision, night blindness, and xerophthalmia. tmpaxzxjjyw_mondo_relaxed.owl vitamin A deficiencies|vitamin A deficiency|deficiency, vitamin A|vitamin A deficiency (disease)|deficiencies, vitamin A vitamin A deficiency (disease) MedDRA:10047586|SCTID:72000004|NCIT:C85220|EFO:1001237|HP:0004905|ICD9:264|ICD9:264.8|UMLS:C0042842|ICD9:264.9|MESH:D014802 owl:Class MONDO:0013122 biolink:NamedThing glaucoma 3, primary congenital, D tmpaxzxjjyw_mondo_relaxed.owl glaucoma 3, primary congenital, type D|GLC3D|glaucoma 3, primary congenital, D OMIM:613086|MESH:C567765|Orphanet:98976|UMLS:C2751316 owl:Class MONDO:0000365 biolink:NamedThing primary congenital glaucoma Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs. tmpaxzxjjyw_mondo_relaxed.owl primary congenital glaucoma (disease)|primary congenital glaucoma primary congenital glaucoma (disease) HP:0008007|UMLS:C1533041|UMLS:C3888011|NCIT:C150251|OMIM:613085|OMIM:613086|DOID:0050593|SCTID:415176004 owl:Class UBERON:0004995 biolink:NamedThing mucosa of body of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017872 biolink:NamedThing Lujo hemorrhagic fever Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission. tmpaxzxjjyw_mondo_relaxed.owl Zambian hemorrhagic fever SCTID:716585008|UMLS:C4274433|ICD10:A96.8|DOID:0050202|Orphanet:319213|UMLS:CN203921 owl:Class UBERON:0001794 biolink:NamedThing inner limiting layer of retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007619 biolink:NamedThing limiting membrane of retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011196 biolink:NamedThing amyotrophic lateral sclerosis type 5 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SPG11 gene. tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis 5|ALS5|amyotrophic lateral sclerosis 5, juvenile|amyotrophic lateral sclerosis caused by mutation in SPG11|SPG11 amyotrophic lateral sclerosis UMLS:C1865864|GARD:0010503|Orphanet:300605|DOID:0060197|MESH:C566576|OMIM:602099 https://rarediseases.info.nih.gov/diseases/10503/amyotrophic-lateral-sclerosis-type-5 owl:Class MONDO:0005163 biolink:NamedThing simian immunodeficiency virus infection An infection affecting monkeys, chimpanzees, and other non human primates caused by a HIV-like virus. tmpaxzxjjyw_mondo_relaxed.owl Simian immunodeficiency virus caused disease or disorder|Simian immunodeficiency virus infectious disease|Simian immunodeficiency virus disease or disorder EFO:0001675 owl:Class MONDO:0008843 biolink:NamedThing atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is characterised by sensorineural deafness, diabetes mellitus, progressive neurological deterioration with photomyoclonic epilepsy, and progressive nephropathy. It has been described in two brothers. Premature atherosclerosis of renal, coronary, and cerebral arteries and the aorta was also observed. tmpaxzxjjyw_mondo_relaxed.owl Feigenbaum Bergeron Richardson syndrome|atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease|premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder|Feigenbaum-Bergeron-Richardson syndrome Orphanet:1192|MESH:C565928|GARD:0002279|OMIM:209010|SCTID:720519003 owl:Class MONDO:0025061 biolink:NamedThing edema disease of swine An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema. tmpaxzxjjyw_mondo_relaxed.owl swine edema diseases|swine edema disease UMLS:C0013605|MESH:D004488 owl:Class MONDO:0004930 biolink:NamedThing steroid-induced glaucoma tmpaxzxjjyw_mondo_relaxed.owl corticosteroid-induced glaucoma ICD9:365.3|UMLS:C0339578|SCTID:1654001|DOID:9946|ICD9:365.89 owl:Class MONDO:0019992 biolink:NamedThing pseudohypoparathyroidism Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a), PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). tmpaxzxjjyw_mondo_relaxed.owl OMIM:603233|OMIM:612462|ICD10:E20.1|UMLS:C0033806|ICD9:275.49|DOID:4184|MESH:D011547|SCTID:58976002|NCIT:C99027|Orphanet:97593|MedDRA:10037126|GARD:0010758 https://rarediseases.info.nih.gov/diseases/10758/pseudohypoparathyroidism owl:Class UBERON:0010498 biolink:NamedThing pseudostratified columnar epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0098813 biolink:NamedThing nuclear chromosome segregation The process in which genetic material, in the form of nuclear chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. Nuclear chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0022402 biolink:NamedThing cell cycle process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019866 biolink:NamedThing mosaic trisomy 5 Mosaic trisomy 5 is a rare chromosomal anomaly syndrome with a variable phenotype ranging from clinically normal to patients presenting intrauterine growth retardation, congenital heart anomalies (mainly ventricular septal defect), multiple dysmorphic features (e.g. hypertelorism, prominent nasal bridge) and other congenital anomalies (incl. eventration of diaphragm, agenesis of corpus callosum, cloverleaf skull, clinodactyly, anteriorly placed anus). Psychomotor development may be normal in spite of low growth parameters being associated. tmpaxzxjjyw_mondo_relaxed.owl Mosaic trisomy chromosome 5|trisomy 5 mosaicism|Mosaic trisomy type 5 Orphanet:96060|MESH:C537762|SCTID:764629008|ICD10:Q92.1 owl:Class MONDO:0037858 biolink:NamedThing inherited fatty acid metabolism disorder A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources. tmpaxzxjjyw_mondo_relaxed.owl disorder of fat oxidation|inherited fatty acid metabolism disorder|disorder of fatty acid metabolism|fatty acid metabolism disorder|disorders of fatty-acid metabolism NCIT:C117115|SCTID:39929009 owl:Class MONDO:0032750 biolink:NamedThing arthrogryposis, distal, type 2B2 tmpaxzxjjyw_mondo_relaxed.owl DA2B2|arthrogryposis, distal, type 2B2 OMIM:618435|DOID:0111601 owl:Class MONDO:0013945 biolink:NamedThing peroxisome biogenesis disorder 9B tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group R|peroxisome biogenesis disorder 9B|Refsum disease, adult, 2|peroxisome biogenesis disorder, PEX7-related, atypical|PBD9B|peroxisome biogenesis disorder, complementation group 11|peroxisome biogenesis disorder type 9B OMIM:614879|Orphanet:773|UMLS:CN159238 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:6560 biolink:NamedThing LFNG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000253 biolink:NamedThing piedra Either of two diseases resulting from fungal infection of the hair shafts. Black piedra occurs mainly in and on the hairs of the scalp and is caused by Piedraia hortae; white piedra occurs in and on the hairs of the scalp, beard, moustache and genital areas and is caused by Trichosporon species. tmpaxzxjjyw_mondo_relaxed.owl Piedras, White|White Piedras|Piedras, black|hair shaft fungal infectious disease|piedra, black|Piedras|steroid-modified tinea infection|black piedra|White piedra|black Piedras|piedra, White UMLS:C0031898|MESH:D010854|SCTID:402135006 owl:Class HGNC:11389 biolink:NamedThing STK11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060596 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies and distal limb anomalies tmpaxzxjjyw_mondo_relaxed.owl NEDDFL|neurodevelopmental disorder with dysmorphic facies and distal limb anomalies Orphanet:528084|UMLS:C4540327|OMIM:617755 Editor note: Check ORDO class, may refer to more generic class owl:Class NCBITaxon:11286 biolink:NamedThing Lyssavirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011849 biolink:NamedThing psoriatic arthritis Joint inflammation associated with psoriasis. tmpaxzxjjyw_mondo_relaxed.owl psoriatic arthritis, susceptibility to, 1|susceptibility to psoriatic arthritis|arthropathic psoriasis|psoriatic arthropathy|arthritis psoriatica|psoriatic arthritis, susceptibility to EFO:0003778|ICD9:696.0|ICD10:L40.50|MESH:D015535|DOID:9008|UMLS:C0003872|ICD10:L40.5|NCIT:C61277|Orphanet:40050|SCTID:156370009 owl:Class GO:0045606 biolink:NamedThing positive regulation of epidermal cell differentiation Any process that activates or increases the frequency, rate or extent of epidermal cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of epidermal cell differentiation|stimulation of epidermal cell differentiation|positive regulation of hypodermal cell differentiation|up regulation of epidermal cell differentiation|upregulation of epidermal cell differentiation|activation of epidermal cell differentiation owl:Class GO:0045684 biolink:NamedThing positive regulation of epidermis development Any process that activates or increases the frequency, rate or extent of epidermis development. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of epidermal development|upregulation of epidermis development|activation of epidermis development|positive regulation of hypodermis development|up regulation of epidermis development|up-regulation of epidermis development|stimulation of epidermis development owl:Class HGNC:28991 biolink:NamedThing RUBCN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020132 biolink:NamedThing cranial nerve and nuclear aplasia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98518 owl:Class MONDO:0020022 biolink:NamedThing central nervous system malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98044|MESH:D009421 owl:Class UBERON:0000002 biolink:NamedThing uterine cervix tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0098803 biolink:NamedThing respiratory chain complex Any protein complex that is part of a respiratory chain. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000433 biolink:NamedThing epithelial cell of lacrimal canaliculus An epithelial cell that is part of the lacrimal canaliculus. tmpaxzxjjyw_mondo_relaxed.owl FMA:70553 cell owl:Class MONDO:0022895 biolink:NamedThing craniosynostosis cleft lip palate arthrogryposis tmpaxzxjjyw_mondo_relaxed.owl GARD:0001590 https://rarediseases.info.nih.gov/diseases/1590/craniosynostosis-cleft-lip-palate-arthrogryposis owl:Class MONDO:0023696 biolink:NamedThing Marinesco-Sjogren-like syndrome A disease with similar features to Marinesco-Sjogren syndrome. tmpaxzxjjyw_mondo_relaxed.owl Marinesco-Sjogren-like syndrome (MSLS)|juvenile cataract, cerebellar atrophy, intellectual disability, and myopathy|juvenile cataract, cerebellar atrophy, mental retardation, and myopathy GARD:0008745|UMLS:C0796036|MESH:C535913 https://rarediseases.info.nih.gov/diseases/8745/marinesco-sjogren-like-syndrome-msls owl:Class MONDO:0014918 biolink:NamedThing tall stature-intellectual disability-renal anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl THAUVIN-robinet-Faivre syndrome|Thauvin-robinet-Faivre syndrome|TROFAS Orphanet:500095|UMLS:C4310715|OMIM:617107 owl:Class MONDO:0016108 biolink:NamedThing autosomal dominant distal myopathy Autosomal dominant form of distal myopathy. tmpaxzxjjyw_mondo_relaxed.owl distal myopathy, autosomal dominant UMLS:CN229018|ICD10:G71.0|Orphanet:206650 owl:Class HP:0012372 biolink:NamedThing Abnormal eye morphology A structural anomaly of the globe of the eye, or bulbus oculi. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the globe|Abnormally shaped eye|Abnormal eye structure UMLS:C4022925|Fyler:4863 previously: Abnormal globe morphology peter 2013-10-13T03:44:43Z HP:0012374|HP:0000489 human_phenotype owl:Class GO:0043603 biolink:NamedThing cellular amide metabolic process The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl amide metabolism owl:Class MONDO:0002779 biolink:NamedThing central nervous system chondroma An extraskeletal chondroma usually arising from the dura. tmpaxzxjjyw_mondo_relaxed.owl chondroma of the CNS|central nervous system osteochondroma|CNS chondroma|osteochondroma of the central nervous system|chondroma of central nervous system|chondroma of the central nervous system|osteochondroma of central nervous system|osteochondroma of the CNS|chondroma of CNS|osteochondroma of CNS|CNS osteochondroma|central nervous system chondroma NCIT:C7001|UMLS:C1333019|DOID:3813 owl:Class MONDO:0006423 biolink:NamedThing soft tissue chondroma A benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification. tmpaxzxjjyw_mondo_relaxed.owl soft tissue chondroma|extraskeletal osteochondroma|extraskeletal chondroma|chondroma of soft parts EFO:1000540|SCTID:404078000|DOID:3814|NCIT:C9482|UMLS:C1275277 MONDO:0002780 owl:Class UBERON:0000409 biolink:NamedThing serous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002365 biolink:NamedThing exocrine gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:MF_0000008 biolink:NamedThing cognitive process A mental process that creates, modifies or has as participant some cognitive representation. tmpaxzxjjyw_mondo_relaxed.owl GO:0050890, cognition, defined as `The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory.' owl:Class MONDO:0010339 biolink:NamedThing X-linked epilepsy-learning disabilities-behavior disorders syndrome X-linked epilepsy-learning disabilities-behavior disorders syndrome is characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behaviour. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12). tmpaxzxjjyw_mondo_relaxed.owl X-linked epilepsy-learning disabilities-behavior disorders syndrome|epilepsy, X-linked, with variable learning disabilities and behavior disorders UMLS:C1845343|MESH:C564505|OMIM:300491|Orphanet:85294|ICD10:Q87.8 owl:Class MONDO:0008143 biolink:NamedThing osteoarthritis susceptibility 1 Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene. tmpaxzxjjyw_mondo_relaxed.owl osteoarthritis of hip, female-specific, susceptibility to|FRZB osteoarthritis|OS1|osteoarthrosis|osteoarthritis susceptibility 1|osteoarthritis susceptibility type 1|osteoarthritis caused by mutation in FRZB|Oa OMIM:165720|ICD9:715.98|ICD9:715.90 https://github.com/monarch-initiative/mondo/issues/1395 owl:Class GO:0005638 biolink:NamedThing lamin filament Any of a group of intermediate-filament proteins that form the fibrous matrix on the inner surface of the nuclear envelope. They are classified as lamins A, B and C. tmpaxzxjjyw_mondo_relaxed.owl type V intermediate filament owl:Class GO:0005882 biolink:NamedThing intermediate filament A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins. tmpaxzxjjyw_mondo_relaxed.owl type I intermediate filament associated protein|intermediate filament associated protein|type II intermediate filament associated protein owl:Class HGNC:11851 biolink:NamedThing TLR5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000764 biolink:NamedThing erythroid lineage cell A immature or mature cell in the lineage leading to and including erythrocytes. tmpaxzxjjyw_mondo_relaxed.owl erythropoietic cell FMA:62845|CALOHA:TS-0290|FMA:83516 Note that in FMA erythropoietic cells are types of nucleated erythrocytes and thus don't include erythrocytes. CL:0002156 cell owl:Class UBERON:0002185 biolink:NamedThing bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001594 biolink:NamedThing Achilles bursitis An bursitis involving a pathogenic inflammatory response in the calcaneal tendon. tmpaxzxjjyw_mondo_relaxed.owl Achilles bursitis or tendinitis|capped hock|Haglund's deformity|Haglund's disease UMLS:C0149846|ICD10:M76.6|ICD9:726.71|DOID:12857 owl:Class MONDO:0002471 biolink:NamedThing bursitis Inflammation or irritation of a synovial bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. tmpaxzxjjyw_mondo_relaxed.owl shoulder adhesive capsulitis|adhesive capsulitis, shoulder|Capsulitides, adhesive|adhesive capsulitis|capsulitis, shoulder adhesive|frozen shoulders|adhesive Capsulitides, shoulder|Capsulitides|capsulitis|synovial bursa inflammation|inflammation of synovial bursa|capsulitis, adhesive|shoulder, frozen|Capsulitides, shoulder adhesive|adhesive capsulitis of the shoulder|shoulders, frozen|shoulder adhesive Capsulitides|frozen shoulder|adhesive Capsulitides|Bursitides DOID:2965|ICD9:727.3|MESH:D002062|NCIT:C94407|ICD10:M71.9|SCTID:84017003|UMLS:C0006444 owl:Class MONDO:0019902 biolink:NamedThing monosomy 13q34 Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum. tmpaxzxjjyw_mondo_relaxed.owl distal deletion 13q34|subtelomeric deletion 13q34|monosomy type 13q34|Del(13)(q34) ICD10:Q93.5|SCTID:766716004|Orphanet:96168 owl:Class MONDO:0015645 biolink:NamedThing eating seizures tmpaxzxjjyw_mondo_relaxed.owl eating epilepsy|eating reflex epilepsy Orphanet:166418|SCTID:230450001|ICD10:G40.8|UMLS:C0393725 owl:Class MONDO:0017768 biolink:NamedThing reflex epilepsy Reflex epilepsy refers to epilepsies where recurrent seizures are provoked by a clearly defined extrinsic (most commonly) or intrinsic triggering stimuli such as flashing lights (photosensitive epilepsy), startling noises (startle epilepsy), urinating (micturition induced seizures), exposure to hot-water (hot water epilepsy), eating, reading, and thinking, while being associated with an enduring abnormal predisposition to have such seizures (thereby meeting the conceptual definition of epilepsy). tmpaxzxjjyw_mondo_relaxed.owl epilepsy, sensory-induced SCTID:79745005|DOID:2548|NCIT:C85041|ICD10:G40.8|EFO:1001146|Orphanet:310|MESH:D020195|ICD9:345.10|UMLS:C0270857 owl:Class MONDO:0024620 biolink:NamedThing meningitis caused by poliovirus tmpaxzxjjyw_mondo_relaxed.owl meningitis caused by human poliovirus|polio virus meningitis UMLS:C4303134|SCTID:721765009 owl:Class UBERON:0000983 biolink:NamedThing metatarsus region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010869 biolink:NamedThing motor neuron disease with dementia and ophthalmoplegia tmpaxzxjjyw_mondo_relaxed.owl motor neuron disease with dementia and ophthalmoplegia MESH:C563954|UMLS:C1838253|OMIM:600333 owl:Class NCBITaxon:10880 biolink:NamedThing Reoviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0011366 biolink:NamedThing cleidobrachialis muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001268 biolink:NamedThing Mental deterioration Loss of previously present mental abilities, generally in adults. tmpaxzxjjyw_mondo_relaxed.owl Mental deterioration|Progressive cognitive decline|Cognitive decline, progressive|Cognitive decline|Intellectual deterioration MSH:D060825|UMLS:C0234985 HP:0002303|HP:0007253|HP:0007298|HP:0007155|HP:0007264|HP:0006822 human_phenotype owl:Class HP:0100543 biolink:NamedThing Cognitive impairment Abnormal cognition with deficits in thinking, reasoning, or remembering. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of cognition|Intellectual impairment|Cognitive defects|Cognitive impairment|Cognitive deficits|Cognitive abnormality SNOMEDCT_US:386806002|UMLS:C0683322|UMLS:C0338656|MSH:D060825 An individual with cognitive impairment may have trouble remembering, learning new things, concentrating, or making decisions. doelkens 2010-12-20T06:50:32Z HP:0002337|HP:0002129|HP:0006998|HP:0007211|HP:0002441|HP:0002128|HP:0002302|HP:0006972 human_phenotype owl:Class MONDO:0015493 biolink:NamedThing lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156156 owl:Class GO:0061045 biolink:NamedThing negative regulation of wound healing Any process that decreases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011022 biolink:NamedThing Potocki-Shaffer syndrome Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2). tmpaxzxjjyw_mondo_relaxed.owl Defect11 syndrome|Potocki-Shaffer syndrome|PSS|proximal 11P deletion syndrome|deletion of chromosome 11p11.2|11p11.2 deletion|proximal 11p deletion syndrome|chromosome 11P11.2 deletion syndrome GARD:0009762|ICD10:Q93.5|Orphanet:52022|NCIT:C75456|DOID:0111687|MESH:C538356|ICD9:758.39|SCTID:702346005|OMIM:601224|UMLS:C1832588 owl:Class MONDO:0032699 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 15 tmpaxzxjjyw_mondo_relaxed.owl EIG15|EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 DOID:0111316|OMIM:618357 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0012742 biolink:NamedThing Brugada syndrome 3 Any Brugada syndrome in which the cause of the disease is a mutation in the CACNA1C gene. tmpaxzxjjyw_mondo_relaxed.owl CACNA1C Brugada syndrome|BRGDA3|Brugada syndrome caused by mutation in CACNA1C|Brugada syndrome type 3|Brugada syndrome 3 ICD10:I49.8|Orphanet:130|UMLS:C2678478|GARD:0010361|MESH:C567509|OMIM:611875|DOID:0110220 https://rarediseases.info.nih.gov/diseases/10361/brugada-syndrome-3 owl:Class MONDO:0015263 biolink:NamedThing Brugada syndrome A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death. tmpaxzxjjyw_mondo_relaxed.owl Bangungut|sudden unexplained nocturnal death syndrome|dream disease|Pokkuri death syndrome|idiopathic ventricular fibrillation, Brugada type|Brugada syndrome|sudden unexpected nocturnal death syndrome|right bundle branch block, ST segment elevation, and sudden death syndrome|Brugada type idiopathic ventricular fibrillation|SUNDS OMIM:601144|DOID:0050451|ICD10:I49.8|OMIMPS:601144|Orphanet:130|UMLS:C1142166|GARD:0001030|OMIM:611777|NCIT:C142891|OMIM:613123|SCTID:418818005|OMIM:616399|MedDRA:10059027|MESH:D053840|OMIM:611876|OMIM:611875|ICD9:746.89|OMIM:613120|NCIT:C71059|OMIM:612838|OMIM:613119 owl:Class MONDO:0004354 biolink:NamedThing neonatal leukemia Leukemia that occurs during the neonatal period. tmpaxzxjjyw_mondo_relaxed.owl neonatal leukemia NCIT:C3845|UMLS:C0235813|DOID:7756 owl:Class MONDO:0004355 biolink:NamedThing childhood leukemia An acute or chronic leukemia that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood leukemia (disease)|childhood leukemia|leukemia (disease) of childhood|pediatric leukemia (disease)|leukemia NCIT:C4989|UMLS:C1332977|DOID:7757 owl:Class MONDO:0014280 biolink:NamedThing immunodeficiency 19 Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD3D gene. tmpaxzxjjyw_mondo_relaxed.owl severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive|CD3D|immunodeficiency 19|CD3-Delta deficiency|CD3D severe combined immunodeficiency (disease)|severe combined immunodeficiency (disease) caused by mutation in CD3D|immunodeficiency type 19|IMD19|SCID, T cell-negative, B cell-positive, NK cell-positive|CD3delta deficiency UMLS:C3810147|Orphanet:169160|DOID:0060016|OMIM:615617 owl:Class MONDO:0013502 biolink:NamedThing amyloidosis, primary localized cutaneous, 2 tmpaxzxjjyw_mondo_relaxed.owl amyloidosis, primary localized cutaneous, type 2|PLCA2|amyloidosis, primary localized cutaneous, 2 OMIM:613955|UMLS:C3151404|Orphanet:353220 owl:Class MONDO:0007705 biolink:NamedThing Heinz body anemia tmpaxzxjjyw_mondo_relaxed.owl Heinz body anemias MESH:C563030|OMIM:140700|UMLS:C0700299|Orphanet:178330|MedDRA:10002058|GARD:0010718|DOID:0111363|HP:0005511|ICD10:D58.2 owl:Class UBERON:5103631 biolink:NamedThing pedal digit 1 digitopodial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:5101466 biolink:NamedThing pedal digit digitopodial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1919 biolink:NamedThing CHD4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018638 biolink:NamedThing pseudohypoaldosteronism An inherited or acquired disorder of electrolyte metabolism, characterized by the inability of the renal tubules to respond to aldosterone. It is manifested by hyperkalemic metabolic acidosis, urinary salt wasting, normal or increased aldosterone secretion and normal glomerular filtration rate. tmpaxzxjjyw_mondo_relaxed.owl ICD9:255.8|MESH:D011546|NCIT:C85034|Orphanet:444916|DOID:4479|UMLS:C0033805|SCTID:77098009 owl:Class HGNC:4247 biolink:NamedThing GGCX tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015497 biolink:NamedThing hypoglossia/aglossia tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q38.3|Orphanet:156212 owl:Class UBERON:0037094 biolink:NamedThing wall of common carotid artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002572 biolink:NamedThing aspiration pneumonitis Inflammation of the lungs due to the inhalation of solid or liquid material. tmpaxzxjjyw_mondo_relaxed.owl aspiration pneumonia|chemical pneumonitis ICD10:J69.0|NCIT:C34932|DOID:3240|UMLS:C1761609|SCTID:155597006 owl:Class MONDO:0007297 biolink:NamedThing ADan amyloidosis A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2. tmpaxzxjjyw_mondo_relaxed.owl FDD|cerebral amyloid angiopathy, ITM2B-RELATED, 2|familial Danish dementia|cerebellar ataxia, cataract, deafness, and dementia or psychosis|Heredopathia Ophthalmootoencephalica|cerebellar ataxia, cataract, deafness, and dementia Or psychosis|familial dementia, Danish type|HOOE|dementia, familial Danish|cerebral amyloid angiopathy, ITM2B-related, type 2|ITM2B-related cerebral amyloid angiopathy 2 Orphanet:97346|GARD:0009169|UMLS:C1861735|ICD10:E85.4+|MESH:C538209|OMIM:117300|ICD10:I68.0*|DOID:0070030 owl:Class MONDO:0008852 biolink:NamedThing congenital central hypoventilation syndrome A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients. tmpaxzxjjyw_mondo_relaxed.owl ondine curse (formerly)|ondine curse, congenital|congenital ondine curse|primary alveolar hypoventilation|congenital central alveolar hypoventilation syndrome|ondine syndrome|central hypoventilation syndrome, congenital|Cchs with Hirschsprung disease|congenital central hypoventilation syndrome|congenital failure of autonomic control|CCHS|central congenital hypoventilation syndrome|ondine curse|autonomic control, congenital failure of|ondine-Hirschsprung disease|congenital central hypoventilation|idiopathic congenital central alveolar hypoventilation|ondine's curse (formerly)|Haddad syndrome OMIM:209880|MedDRA:10007982|Orphanet:661|SCTID:230499002|MedDRA:10066131|Orphanet:99803|GARD:0008535|ICD10:G47.3|UMLS:C1275808|NCIT:C98889|DOID:0060731 https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome owl:Class MONDO:0010264 biolink:NamedThing X-linked adrenal hypoplasia congenita A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism. tmpaxzxjjyw_mondo_relaxed.owl adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|mineralocorticoid deficiency, isolated|X-linked congenital adrenal hypoplasia|adrenal hypoplasia, congenital|adrenal hypoplasia congenita|adrenal insufficiency, progressive, and hypogonadotropic hypogonadism|congenital adrenal hypoplasia|AHC with HHG|cytomegalic adrenocortical hypoplasia|X-linked adrenal hypoplasia congenita|AHC with isolated gonadotropin deficiency|Addison disease, X-linked|AHC|X-linked AHC|cytomegalic congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with precocious puberty Orphanet:95702|UMLS:C0342482|OMIM:300200|OMIM:202155|SCTID:93235007|DOID:0080156|ICD10:E27.1|GARD:0000555|NCIT:C123725 owl:Class MONDO:0016241 biolink:NamedThing alternating hemiplegia of childhood A rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment. tmpaxzxjjyw_mondo_relaxed.owl congenital adrenal Hypoplasia|alternating hemiplegia|alternating hemiplegia syndrome|AHC|adrenal hypoplasia congenita|congenital adrenal gland hypoplasia|childhood alternating hemiplegia|alternating hemiplegia of childhood|pediatric alternating hemiplegia GARD:0000011|OMIM:104290|UMLS:C0338488|NCIT:C35261|OMIM:614820|DOID:0050635|SCTID:230466004|OMIMPS:104290|MESH:C536589|Orphanet:2131|ICD10:G98 owl:Class HGNC:8008 biolink:NamedThing NRXN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005161 biolink:NamedThing human papilloma virus infection An infectious process caused by a human papillomavirus. This infection can cause abnormal tissue growth. tmpaxzxjjyw_mondo_relaxed.owl Human papillomavirus infectious disease|Human papillomavirus caused disease or disorder|Human papilloma Virus infection|Human papillomavirus disease or disorder|Human Papillomavirus infection UMLS:C0343641|EFO:0001668|NCIT:C27851|ICD9:079.4|SCTID:240532009 owl:Class MONDO:0100228 biolink:NamedThing LAMA2-related muscular dystrophy Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene. tmpaxzxjjyw_mondo_relaxed.owl LAMA2-related muscular dystrophy http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014140 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 tmpaxzxjjyw_mondo_relaxed.owl muscle-eye-brain-GMPPB related|MDDGA14|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14|Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related UMLS:C3809216|OMIM:615350|Orphanet:588|DOID:0111233 owl:Class MONDO:0700084 biolink:NamedThing myopathy caused by variation in GMPPB Any myopathy in which the cause of the disease is a variation in the GMPPB gene. tmpaxzxjjyw_mondo_relaxed.owl myopathy caused by mutation in GMPPB|GMPPB-related myopathy http://orcid.org/0000-0002-4142-7153 owl:Class NCBITaxon:29263 biolink:NamedThing tick-borne encephalitis virus group tmpaxzxjjyw_mondo_relaxed.owl Tick-borne encephalitis viruses GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001849 biolink:NamedThing membranous labyrinth tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050907 biolink:NamedThing detection of chemical stimulus involved in sensory perception The series of events in which a chemical stimulus is received and converted into a molecular signal as part of sensory perception. tmpaxzxjjyw_mondo_relaxed.owl sensory perception, sensory detection of chemical stimulus|sensory detection of chemical stimulus|sensory transduction of chemical stimulus|sensory transduction of chemical stimulus during sensory perception|sensory perception, sensory transduction of chemical stimulus|sensory detection of chemical stimulus during sensory perception owl:Class MONDO:0007576 biolink:NamedThing esophageal cancer A primary or metastatic malignant neoplasm involving the esophagus. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of proximal third of esophagus|malignant esophagus tumor|malignant neoplasm of upper third esophagus|Escc, susceptibility to|malignant neoplasm of esophagus|malignant neoplasm of proximal third of esophagus|Ca lower third oesophagus|cancer of esophagus|malignant esophageal neoplasm|gastric cardia adenocarcinoma, susceptibility to|esophageal squamous cell carcinoma, susceptibility to|malignant esophageal tumor|malignant esophagus neoplasm|malignant tumor of distal third of esophagus|malignant neoplasm of the esophagus|malignant tumor of the middle third of the esophagus|Aerodigestive tract cancer, susceptibility to|malignant neoplasm of lower third of oesophagus|malignant tumor of abdominal esophagus|malignant neoplasm of middle third of oesophagus|malignant tumor of the esophagus|malignant tumor of esophagus|esophageal cancer|Ca middle third oesophagus|esophagus cancer|malignant neoplasm of distal third of esophagus ICD10:C15.5|ICD9:150.2|ICD10:C15.3|ICD9:150.5|ICD9:150.3|NCIT:C3028|ICD9:150.8|Orphanet:70482|DOID:5041|NCIT:C7478|SCTID:363402007|ICD9:150.4|Orphanet:99977|OMIM:133239|GARD:0006383|ICD10:C15.4|SCTID:126817006|UMLS:C0152018|UMLS:C0546837|UMLS:C0014859|ICD9:150.9 owl:Class HGNC:14153 biolink:NamedThing CCDC78 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017618 biolink:NamedThing congenital sucrase-isomaltase deficiency with starch intolerance tmpaxzxjjyw_mondo_relaxed.owl disaccharide intolerance with starch intolerance|congenital sucrase-isomaltose malabsorption with starch intolerance|congenital sucrose intolerance with starch intolerance|CSID with starch intolerance Orphanet:306436|ICD10:E74.3 owl:Class MONDO:0009114 biolink:NamedThing congenital sucrase-isomaltase deficiency A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterised by malabsorption of sucrose and maltose. tmpaxzxjjyw_mondo_relaxed.owl sucrase-isomaltase deficiency|genetic sucrase-isomaltose malabsorption|congenital sucrase-isomaltase deficiency|sucrose isomaltose enzyme deficiency|congenital sucrose-isomaltase intolerance|sucrose intolerance, congenital|disaccharide intolerance 1|disaccharide intolerance|congenital sucrose malabsorption|sucrose-isomaltose malabsorption, congenital|invertase deficiency|intestinal sucrase-a-dextrinase deficiency|disaccharide intolerance i|congenital sucrose-isomaltase malabsorption|sucrase-alpha-dextrinase deficiency|CSID|congenital sucrase-isomaltose malabsorption|congenital sucrose intolerance|disaccharide intolerance, 1|SI deficiency|sucrose intolerance congenital|sucrose-isomaltase malabsorption, congenital|sucrase-isomaltase deficiency, congenital GARD:0006183|SCTID:78373000|ICD10:E74.3|MedDRA:10066387|ICD9:271.3|DOID:0111633|NCIT:C128190|Orphanet:35122|GARD:0007710|UMLS:C1283620|OMIM:222900|MESH:C538139 https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency|https://rarediseases.info.nih.gov/diseases/6183/congenital-sucrose-isomaltose-malabsorption owl:Class MONDO:0011469 biolink:NamedThing congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood. tmpaxzxjjyw_mondo_relaxed.owl amegakaryocytic thrombocytopenia, congenital|congenital amegakaryocytic thrombocytopenic purpura|congenital amegakaryocytic thrombocytopenia|thrombocytopenia congenital amegakaryocytic|CAMT NCIT:C115207|MESH:C535982|GARD:0000640|ICD10:D61.0|SCTID:716336002|DOID:0090118|Orphanet:3319|OMIM:604498|GARD:640|UMLS:C1327915 https://rarediseases.info.nih.gov/diseases/640/congenital-amegakaryocytic-thrombocytopenia owl:Class MONDO:0000577 biolink:NamedThing congenital anemia Anemia, the cause of which is present at birth. tmpaxzxjjyw_mondo_relaxed.owl congenital anemia|congenital anemia (disease) NCIT:C35228|UMLS:C0158995|SCTID:63565007 owl:Class GO:0019209 biolink:NamedThing kinase activator activity Binds to and increases the activity of a kinase, an enzyme which catalyzes of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008047 biolink:NamedThing enzyme activator activity Binds to and increases the activity of an enzyme. tmpaxzxjjyw_mondo_relaxed.owl metalloenzyme activator activity owl:Class MONDO:0009025 biolink:NamedThing apparent mineralocorticoid excess Apparent mineralocorticoid excess (AME) is a rare form of pseudohyperaldosteronism characterized by very early-onset and severe hypertension, associated with low renin levels and hypoaldosteronism. tmpaxzxjjyw_mondo_relaxed.owl Ulick syndrome|apparent mineralocorticoid excess|apparent mineralocorticoid EXCESS|ape|cortisol 11-Beta-ketoreductase deficiency|AME 1|AME|11-beta-hydroxysteroid dehydrogenase deficiency type 2|11 Beta-hydroxysteroid dehydrogenase type 2 deficiency|cortisol 11-beta-ketoreductase deficiency|Ame1 Orphanet:320|UMLS:C3887949|MESH:C537422|DOID:0090121|GARD:0000433|NCIT:C131083|UMLS:CN203981|SCTID:703256004|ICD10:E26.1|OMIM:218030|UMLS:C2936861 https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess owl:Class MONDO:0043953 biolink:NamedThing burkholderia infectious disease Infections with bacteria of the genus Burkholderia. tmpaxzxjjyw_mondo_relaxed.owl infections, Burkholderia|Burkholderia infection|infection, Burkholderia|infection caused by Burkholderia|Burkholderia infectious disease|burkholderia infectious disease|Burkholderia disease or disorder|Burkholderia caused disease or disorder EFO:1001280|SCTID:721736003|MESH:D019121 owl:Class UBERON:0001513 biolink:NamedThing skin of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:5501 biolink:NamedThing Coccidioides immitis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5500 biolink:NamedThing Coccidioides tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044740 biolink:NamedThing salivary gland squamous cell carcinoma A squamous cell carcinoma arising from the salivary glands. The majority of patients are in their sixth through eight decades. It usually presents as a rapidly enlarging mass, which may be painful. It usually has an aggressive clinical course. tmpaxzxjjyw_mondo_relaxed.owl salivary gland SCC|epidermoid carcinoma of the salivary gland|epidermoid carcinoma of salivary gland|salivary gland squamous cell cancer|salivary gland epidermoid carcinoma|squamous cell carcinoma of salivary gland|SCC of the salivary gland|squamous cell carcinoma of the salivary gland|SCC of salivary gland|squamous cell carcinoma of salivary glands|saliva-secreting gland squamous cell carcinoma|salivary gland squamous cell carcinoma Orphanet:500481|UMLS:C0279697|EFO:1001967|NCIT:C7991|OMIM:275355 owl:Class MONDO:0017167 biolink:NamedThing malignant epithelial tumor of salivary glands tmpaxzxjjyw_mondo_relaxed.owl malignant epithelial tumor of the salivary glands ICD10:C07|Orphanet:276145|UMLS:CN202591|ICD10:C08.0|ICD10:C08.8|ICD10:C08.1 owl:Class GO:0042322 biolink:NamedThing negative regulation of circadian sleep/wake cycle, REM sleep Any process that stops, prevents or reduces the duration or quality of rapid eye movement (REM) sleep. tmpaxzxjjyw_mondo_relaxed.owl down regulation of circadian sleep/wake cycle, REM sleep|down-regulation of circadian sleep/wake cycle, REM sleep|inhibition of circadian sleep/wake cycle, REM sleep|negative regulation of REM sleep|downregulation of circadian sleep/wake cycle, REM sleep owl:Class GO:0042321 biolink:NamedThing negative regulation of circadian sleep/wake cycle, sleep Any process that stops, prevents or reduces the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. tmpaxzxjjyw_mondo_relaxed.owl down regulation of circadian sleep/wake cycle, sleep|downregulation of circadian sleep/wake cycle, sleep|negative regulation of sleep|down-regulation of circadian sleep/wake cycle, sleep|inhibition of circadian sleep/wake cycle, sleep owl:Class UBERON:0035508 biolink:NamedThing branch of posterior cerebral artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000453 biolink:NamedThing Langerhans cell Langerhans cell is a conventional dendritic cell that has plasma membrane part CD207. A Langerhans cell is a stellate dendritic cell of myeloid origin, that appears clear on light microscopy and has a dark-staining, indented nucleus and characteristic inclusions (Birbeck granules) in the cytoplasm; Langerhans cells are found principally in the stratum spinosum of the epidermis, but they also occur in other stratified epithelia and have been identified in the lung, lymph nodes, spleen, and thymus. tmpaxzxjjyw_mondo_relaxed.owl LC|Langerhans' cell BTO:0000705|FMA:63072|CALOHA:TS-2375 Originally described in the dendritic cell ontology (DC_CL:0000021 )(PMID:19243617). These cells are also CD1a-high, CD14-negative, CD207-positive (langerin), CD324-positive (E-cadherin), and DCIR-positive. They reside in the epidermis. cell owl:Class GO:0051926 biolink:NamedThing negative regulation of calcium ion transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl downregulation of calcium ion transport|negative regulation of calcium transport|down regulation of calcium ion transport|inhibition of calcium ion transport|down-regulation of calcium ion transport owl:Class GO:0043271 biolink:NamedThing negative regulation of ion transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl inhibition of ion transport|down regulation of ion transport|down-regulation of ion transport|downregulation of ion transport owl:Class MONDO:0013250 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 85 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 85|DFNB85|autosomal recessive nonsyndromic deafness 85|deafness, autosomal recessive 85|autosomal recessive deafness 85 ICD10:H90.3|DOID:0110531|UMLS:C3160740|OMIM:613392 owl:Class GO:0009893 biolink:NamedThing positive regulation of metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of metabolic process|positive regulation of multicellular organismal metabolic process|stimulation of organismal metabolic process|positive regulation of organismal metabolism|positive regulation of metabolism|up regulation of metabolic process|up-regulation of organismal metabolic process|stimulation of metabolic process|upregulation of metabolic process|activation of metabolic process owl:Class MONDO:0004994 biolink:NamedThing cardiomyopathy A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy|Cardiomyopathies Orphanet:167848|SCTID:85898001|DOID:0050700|ICD9:425|ICD10:I42.9|MedDRA:10007636|ICD10:I51.5|ICD9:425.4|ICD10:I42|ICD9:425.9|UMLS:C0878544|NCIT:C53654|NCIT:C34830|MESH:D009202|EFO:0000318|GARD:0011958 owl:Class MONDO:0018357 biolink:NamedThing neonatal antiphospholipid syndrome tmpaxzxjjyw_mondo_relaxed.owl neonatal Hughes syndrome|neonatal antiphospholipid antibody syndrome Orphanet:398097|UMLS:CN226098|ICD10:D68.6 owl:Class MONDO:0018356 biolink:NamedThing secondary neonatal autoimmune disease tmpaxzxjjyw_mondo_relaxed.owl Transplacentally acquired neonatal autoimmune disease Orphanet:398091|UMLS:CN226097 owl:Class UBERON:0010996 biolink:NamedThing articular cartilage of joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001994 biolink:NamedThing hyaline cartilage tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008918 biolink:NamedThing carnitine-acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. tmpaxzxjjyw_mondo_relaxed.owl CARNITINE-acylcarnitine translocase deficiency|carnitine-acylcarnitine translocase deficiency|CACT deficiency|CACTD|Cact deficiency Orphanet:159|OMIM:212138|ICD10:E71.3|MESH:C562812|DOID:0111585|NCIT:C133086|UMLS:C0342791|GARD:0001123|SCTID:238003000 https://rarediseases.info.nih.gov/diseases/1123/carnitine-acylcarnitine-translocase-deficiency owl:Class MONDO:0017716 biolink:NamedThing disorder of carnitine cycle and carnitine transport tmpaxzxjjyw_mondo_relaxed.owl Orphanet:309130|ICD10:E71.3|UMLS:CN227184 owl:Class MONDO:0006664 biolink:NamedThing atrial septal defect Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart. tmpaxzxjjyw_mondo_relaxed.owl congenital atrial septal defect|interauricular septal defect|ASD|atrial septal defect|atrioseptal defect|interatrial communication|atrial septum defect|auricular septal defect|interauricular communication|interatrial septal defect OMIM:611363|OMIMPS:108800|OMIM:607941|OMIM:612794|Orphanet:1478|OMIM:614475|MESH:D006344|OMIM:614433|MedDRA:10003664|OMIM:108800|SCTID:253366007|MedDRA:10068864|OMIM:613087|UMLS:C0018817|NCIT:C84473|ICD10:Q21.1|EFO:1000825|MedDRA:10019308|DOID:1882|OMIM:614089 owl:Class GO:1905707 biolink:NamedThing negative regulation of mitochondrial ATP synthesis coupled proton transport Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904063 biolink:NamedThing negative regulation of cation transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of cation transmembrane transport. tmpaxzxjjyw_mondo_relaxed.owl inhibition of cation transmembrane transport|downregulation of cation transmembrane transport|down-regulation of cation transmembrane transport|down regulation of cation transmembrane transport owl:Class UBERON:0010714 biolink:NamedThing iliac cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002101 biolink:NamedThing limb tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001791 biolink:NamedThing inner nuclear layer of retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005796 biolink:NamedThing HIV enteropathy A syndrome characterized by chronic, well-established diarrhea (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an hiv-positive individual. It is thought to be due to direct or indirect effects of hiv on the enteric mucosa. hiv enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155) tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0282616|EFO:0007311|MESH:D019053 owl:Class MONDO:0100148 biolink:NamedThing X-linked complex neurodevelopmental disorder A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy. tmpaxzxjjyw_mondo_relaxed.owl X-linked complex neurodevelopmental disorder http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013412 biolink:NamedThing hypertrophic cardiomyopathy 9 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TTN gene. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic cardiomyopathy type 9|hypertrophic cardiomyopathy caused by mutation in TTN|CMH9|TTN hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 9|cardiomyopathy, familial hypertrophic, type 9 MESH:C566044|UMLS:C1861065|OMIM:613765|DOID:0110315 owl:Class MONDO:0100367 biolink:NamedThing port-wine nevi-mega cisterna magna-hydrocephalus syndrome A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. tmpaxzxjjyw_mondo_relaxed.owl nova syndrome Orphanet:2703 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0001225 biolink:NamedThing cortex of kidney tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015871 biolink:NamedThing benign breast phyllodes tumor A usually unilateral, benign and well circumscribed biphasic neoplasm that arises from the breast. It usually affects middle-aged women. It is characterized by the presence of a double layer of epithelial cells that are arranged in clefts, surrounded by a cellular, monomorphic spindle cell mesenchymal component. Mitoses are rare. Necrotic changes may be present in large tumors. tmpaxzxjjyw_mondo_relaxed.owl phylloide tumor of the breast|benign breast phyllodes tumor|phyllodes tumor, benign (morphologic abnormality)|benign phyllodes tumor of breast|BPT|benign cystosarcoma phyllodes|cystosarcoma phyllode|phyllodes neoplasm|cystosarcoma phyllodes|benign phyllodes neoplasm|cystosarcoma phyllode of the breast|cystosarcoma phylloide of the breast|breast benign phyllodes neoplasm|benign phyllodes neoplasm of the breast|benign phyllodes tumor of the breast|cystosarcoma phyllodes NOS (morphologic abnormality)|benign phyllodes neoplasm of breast|breast phyllodes tumor, benign|cystosarcoma phylloide|phyllode tumor of the breast MedDRA:10011813|SCTID:720344007|Orphanet:180261|ONCOTREE:BPT|NCIT:C5196|ICD10:D48.6|DOID:1631|MESH:D003557|UMLS:C1332533 owl:Class MONDO:0037002 biolink:NamedThing benign phyllodes tumor A benign, circumscribed fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It is characterized by the presence of epithelial structures which are arranged in clefts and by a hypercellular mesenchymal stroma which is organized in leaf-like structures. There is no evidence of cellular atypia or sarcomatous features. tmpaxzxjjyw_mondo_relaxed.owl benign cystosarcoma phyllodes|benign phyllodes tumor|phyllodes tumor, benign|benign phyllodes neoplasm NCIT:C4274|ICDO:9020/0 owl:Class MONDO:0002605 biolink:NamedThing hepatic angiomyolipoma An angiomyolipoma arising from the liver. tmpaxzxjjyw_mondo_relaxed.owl liver PEComa|liver angiomyolipoma NCIT:C27485|UMLS:C1333962|DOID:3317 owl:Class MONDO:0004721 biolink:NamedThing liver neoplasm A benign or malignant epithelial neoplasm that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of benign epithelial neoplasms include hepatocellular adenoma and intrahepatic bile duct adenoma. Representative examples of malignant epithelial neoplasms include hepatocellular carcinoma and intrahepatic cholangiocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl liver and intrahepatic bile duct epithelial neoplasm|tumor of liver|epithelial hepatic and intrahepatic bile duct neoplasm|liver neoplasm (disease)|neoplasm of liver|liver tumor UMLS:C1333976|ONCOTREE:LIVER|DOID:916|UMLS:C0023903|EFO:1001513|SCTID:126851005|NCIT:C7103|NCIT:C7106 Editor note: consider merging with liver and intrahepatic bile duct neoplasm owl:Class MONDO:0018895 biolink:NamedThing Plummer-Vinson syndrome Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. tmpaxzxjjyw_mondo_relaxed.owl Paterson-Kelly syndrome|Sideropenic dysphagia|Paterson’s syndrome|Kelly's syndrome|Plummer Vinson syndrome|Paterson's syndrome|dysphagia sideropenica|Kelly-Paterson syndrome|Paterson-Brown-Kelly syndrome SCTID:80126007|ICD9:280.8|ICD10:D50.1|Orphanet:54028|MESH:D011004|GARD:0008259|NCIT:C85016|UMLS:C0032249|MedDRA:10040664 https://rarediseases.info.nih.gov/diseases/8259/plummer-vinson-syndrome owl:Class MONDO:0016625 biolink:NamedThing acquired deficiency anemia An instance of deficiency anemia that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl rare acquired deficiency anemia Orphanet:248302|UMLS:CN226976 https://github.com/monarch-initiative/mondo/issues/254 owl:Class GO:0045453 biolink:NamedThing bone resorption The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001072 biolink:NamedThing mild pre-eclampsia A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. tmpaxzxjjyw_mondo_relaxed.owl ICD9:642.40|ICD9:642.43|ICD9:642.44|SCTID:41114007|DOID:10590|ICD9:642.42|ICD9:642.41 owl:Class UBERON:0013751 biolink:NamedThing metaphysis of radius tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011133 biolink:NamedThing deaf blind hypopigmentation syndrome, Yemenite type Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. tmpaxzxjjyw_mondo_relaxed.owl Yemenite (Warburg) deaf-blind hypopigmentation syndrome|Warburg-Thomsen syndrome|Yemenite deaf-blind hypopigmentation syndrome|Warburg Thomsen syndrome SCTID:721084001|UMLS:C1866425|MESH:C536771|GARD:0005535|Orphanet:3214|OMIM:601706 owl:Class MONDO:0014111 biolink:NamedThing cataract 19 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LIM2 gene. tmpaxzxjjyw_mondo_relaxed.owl cataract type 19|CTRCT19|LIM2 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in LIM2|cataract 19, multiple types|cataract 19 ICD10:Q12.0|OMIM:615277|DOID:0110263|UMLS:C3809004|Orphanet:98984|Orphanet:91492 owl:Class CL:0002050 biolink:NamedThing Fraction C' precursor B cell A pre-BCR-positive precursor B cell that is CD24-high, CD25-positive, CD43-positive, CD45R-positive and BP-positive. tmpaxzxjjyw_mondo_relaxed.owl Fr. C'|Fraction C-prime tmeehan 2010-04-28T02:13:46Z cell owl:Class GO:0031331 biolink:NamedThing positive regulation of cellular catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl stimulation of cellular catabolic process|up regulation of cellular catabolic process|positive regulation of cellular catabolism|activation of cellular catabolic process|up-regulation of cellular catabolic process|positive regulation of cellular degradation|positive regulation of cellular breakdown|upregulation of cellular catabolic process owl:Class MONDO:0005416 biolink:NamedThing osteoarthritis, knee Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019) tmpaxzxjjyw_mondo_relaxed.owl EFO:0004616|MESH:D020370 owl:Class HGNC:5985 biolink:NamedThing IL17RA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017986 biolink:NamedThing disorder of plasmalogens biosynthesis tmpaxzxjjyw_mondo_relaxed.owl disorder of plasmalogens biosynthesis Orphanet:3276|UMLS:CN237437 owl:Class HGNC:6512 biolink:NamedThing LARS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1900451 biolink:NamedThing positive regulation of glutamate receptor signaling pathway Any process that activates or increases the frequency, rate or extent of glutamate receptor signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl up regulation of glutamate signaling pathway|up regulation of glutamate signalling pathway|upregulation of glutamate signalling pathway|activation of glutamate signalling pathway|positive regulation of glutamate signalling pathway|up regulation of glutamate receptor signaling pathway|upregulation of glutamate signaling pathway|upregulation of glutamate receptor signaling pathway|up-regulation of glutamate signaling pathway|up-regulation of glutamate signalling pathway|positive regulation of glutamate signaling pathway|activation of glutamate receptor signaling pathway|up-regulation of glutamate receptor signaling pathway|activation of glutamate signaling pathway owl:Class UBERON:0000333 biolink:NamedThing intestinal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009093 biolink:NamedThing dermatoleukodystrophy Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood. tmpaxzxjjyw_mondo_relaxed.owl Dermatoleukodystrophy SCTID:733044009|MESH:C538220|Orphanet:1659|GARD:0001813|ICD10:E75.2|UMLS:C1857314|OMIM:221790 https://rarediseases.info.nih.gov/diseases/1813/dermatoleukodystrophy owl:Class MONDO:0001674 biolink:NamedThing diverticulitis of colon Inflammation of the colonic diverticula, generally with abscess formation and subsequent perforation. tmpaxzxjjyw_mondo_relaxed.owl colon diverticulitis|colonic diverticular disease ICD9:562.12|DOID:13254|ICD9:562.11|MESH:D004239|UMLS:C0012814|SCTID:111359004 owl:Class MONDO:0004235 biolink:NamedThing diverticulitis An infection that develops in the diverticula of the intestinal tract. Signs and symptoms include abdominal pain, fever, and leukocytosis. tmpaxzxjjyw_mondo_relaxed.owl digestive tract diverticulum inflammation|inflammation of digestive tract diverticulum MESH:D004238|NCIT:C26752|EFO:1001460|DOID:7475|UMLS:C0012813|SCTID:307496006 owl:Class MONDO:0006798 biolink:NamedThing hypervitaminosis A A symptom complex resulting from ingesting excessive amounts of vitamin A. tmpaxzxjjyw_mondo_relaxed.owl hypervitaminosis type A DOID:9972|SCTID:64559002|ICD10:E67.0|MESH:D006986|MedDRA:10020916|UMLS:C0020579|ICD9:278.2|EFO:1000978 owl:Class MONDO:0003916 biolink:NamedThing overnutrition An imbalanced nutritional status resulting from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as obesity. tmpaxzxjjyw_mondo_relaxed.owl SCTID:302872003|UMLS:C1257763|ICD9:278.8|DOID:654|MESH:D044343 owl:Class MONDO:0003215 biolink:NamedThing apocrine sweat gland cancer A malignant neoplasm involving the apocrine sweat gland. tmpaxzxjjyw_mondo_relaxed.owl cancer of apocrine sweat gland|malignant apocrine skin neoplasm|malignant apocrine sweat gland neoplasm|malignant apocrine neoplasm of skin|malignant apocrine tumor of skin|malignant apocrine tumor of the skin|apocrine sweat gland cancer|malignant apocrine tumor|malignant apocrine neoplasm|malignant apocrine skin tumor|malignant apocrine neoplasm of the skin|malignant neoplasm of apocrine sweat gland NCIT:C6800|UMLS:C1334561|DOID:4934 owl:Class NCBITaxon:2169561 biolink:NamedThing Ortervirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732514 biolink:NamedThing Revtraviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003448 biolink:NamedThing manus nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009610 biolink:NamedThing forebrain neural plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002888 biolink:NamedThing positive regulation of myeloid leukocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of myeloid leukocyte mediated immunity|stimulation of myeloid leukocyte mediated immunity|upregulation of myeloid leukocyte mediated immunity|activation of myeloid leukocyte mediated immunity|up regulation of myeloid leukocyte mediated immunity owl:Class GO:0002886 biolink:NamedThing regulation of myeloid leukocyte mediated immunity Any process that modulates the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:60531 biolink:NamedThing flavin(1-) Flavin protonated to pH 7.3 tmpaxzxjjyw_mondo_relaxed.owl an oxidized flavin owl:Class MONDO:0001216 biolink:NamedThing pulp degeneration Deterioration of the normal pulp tissue. tmpaxzxjjyw_mondo_relaxed.owl ICD10:K04.2|ICD9:522.2|UMLS:C0034100|NCIT:C34962|DOID:11189|SCTID:22361007 owl:Class MONDO:0003394 biolink:NamedThing dental pulp disorder A disease involving the dental pulp. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of dental pulp|pulp disorder|dental pulp disease|disorder of pulp of tooth|dental pulp disorder|disease of dental pulp|disorder of dental pulp|dental pulp disease or disorder MESH:D003788|NCIT:C34530|SCTID:57203004|ICD9:522.9|DOID:5330|UMLS:C0011405 owl:Class CL:0009066 biolink:NamedThing stratified squamous epithelial cell of anal canal A stratified squamous epithelial cell that is part of the anal canal. tmpaxzxjjyw_mondo_relaxed.owl anal canal stratified squamous epithelial cell owl:Class GO:0032042 biolink:NamedThing mitochondrial DNA metabolic process The chemical reactions and pathways involving mitochondrial DNA. tmpaxzxjjyw_mondo_relaxed.owl mtDNA metabolism|mitochondrial DNA metabolism|mtDNA metabolic process owl:Class GO:0006259 biolink:NamedThing DNA metabolic process Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. tmpaxzxjjyw_mondo_relaxed.owl cellular DNA metabolism|DNA metabolism owl:Class GO:1900077 biolink:NamedThing negative regulation of cellular response to insulin stimulus Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to insulin stimulus. tmpaxzxjjyw_mondo_relaxed.owl downregulation of cellular response to insulin stimulus|down-regulation of cellular response to insulin stimulus|down regulation of cellular response to insulin stimulus|inhibition of cellular response to insulin stimulus owl:Class RO:0002310 biolink:NamedThing exposure event or process A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002762 biolink:NamedThing esophagus verrucous carcinoma A rare variant of esophageal squamous cell carcinoma. It is an exophytic, cauliflower-like or papillary mass that can arise in any part of the esophagus. This variant of squamous cell carcinoma grows slowly and invades locally, with a very low metastasizing potential. (WHO) tmpaxzxjjyw_mondo_relaxed.owl esophageal verrucous carcinoma|esophageal verrucous cancer|esophagus verrucous carcinoma|verrucous carcinoma of the esophagus|verrucous carcinoma of esophagus DOID:3747|NCIT:C27420|UMLS:C1333470 owl:Class HP:0010885 biolink:NamedThing Avascular necrosis A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. tmpaxzxjjyw_mondo_relaxed.owl Osteochondronecrosis|Osteonecrosis|Ischaemic bone necrosis|Bone infarction|Ischemic bone necrosis|Death of bone due to decreased blood supply|Aseptic necrosis|Aseptic bone necrosis UMLS:C0085660|UMLS:C0877326|UMLS:C0029445|SNOMEDCT_US:398199007|MSH:D010020|SNOMEDCT_US:240196003|SNOMEDCT_US:72756009|UMLS:C0520474 The interruption of the blood supply may have many different causes such as rapid growth, heredity causes, trauma or overuse, anatomic conformation, dietary imbalances or secondary effects of other diseases. sdoelken 2010-09-24T10:11:05Z human_phenotype owl:Class HP:0011843 biolink:NamedThing Abnormality of musculoskeletal physiology An abnormality of the function of the skeletal system. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023164 peter 2012-05-07T08:09:43Z human_phenotype owl:Class HP:0001939 biolink:NamedThing Abnormality of metabolism/homeostasis tmpaxzxjjyw_mondo_relaxed.owl Laboratory abnormality|Metabolism abnormality UMLS:C4021768 HP:0004355|HP:0002146|HP:0004367 human_phenotype owl:Class UBERON:0015060 biolink:NamedThing sphenoid endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023201 biolink:NamedThing Fryns Smeets Thiry syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0002409|Orphanet:2058 https://rarediseases.info.nih.gov/diseases/2409/fryns-smeets-thiry-syndrome owl:Class MONDO:0015922 biolink:NamedThing channelopathy with epilepsy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:182083 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: channelopathy MONDO_0021016 owl:Class MONDO:0000625 biolink:NamedThing benign male reproductive system neoplasm A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor. tmpaxzxjjyw_mondo_relaxed.owl male reproductive organ benign neoplasm|benign Male reproductive system neoplasm|benign Male reproductive system tumor UMLS:C0947786|NCIT:C4777|DOID:0060087 owl:Class CHEBI:22978 biolink:NamedThing cadmium molecular entity tmpaxzxjjyw_mondo_relaxed.owl cadmium compounds|cadmium molecular entities owl:Class MONDO:0007925 biolink:NamedThing chromosome 5q deletion syndrome A myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5. The number of blasts in the bone marrow and blood is <5%. The bone marrow is usually hypercellular or normocellular with increased number of often hypolobated megakaryocytes. The peripheral blood shows macrocytic anemia. This syndrome occurs predominantly but not exclusively in middle age to older women. The prognosis is good and transformation to acute leukemia is rare. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl megakaryocytes, unilobular nucleated|5Q- syndrome|MAR|5q- syndrome, refractory macrocytic anemia due to 5q deletion|5q- syndrome|myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality|myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality|5q syndrome|myelodysplastic syndrome with isolated del(5q)|5Q minus syndrome|refractory macrocytic anemia due to 5q deletion|macrocytic Anemia, refractory, due to 5Q deletion|myelodysplastic syndrome with 5q deletion|5q deletion syndrome|chromosome 5q deletion syndrome SCTID:277597005|OMIM:153550|UMLS:CN206233|ICD10:D46.7|Orphanet:86841|NCIT:C6867|ICDO:9986/3|MESH:C535323|GARD:0008723|DOID:0090016 owl:Class CHEBI:27081 biolink:NamedThing transition element atom An element whose atom has an incomplete d sub-shell, or which can give rise to cations with an incomplete d sub-shell. tmpaxzxjjyw_mondo_relaxed.owl transition element|Uebergangselement|transition metal|metal de transicion|Uebergangsmetalle|transition elements|metal de transition|metaux de transition|transition metals|metales de transicion owl:Class MONDO:0011545 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 3 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene. tmpaxzxjjyw_mondo_relaxed.owl CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy|epilepsy, nocturnal frontal lobe, type 3|autosomal dominant nocturnal frontal lobe epilepsy type 3|nocturnal frontal lobe epilepsy 3|epilepsy, nocturnal frontal lobe, 3|ENFL3|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2 UMLS:C1854335|MESH:C565334|Orphanet:98784|DOID:0060684|OMIM:605375 owl:Class MONDO:0020300 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief. tmpaxzxjjyw_mondo_relaxed.owl ENFL|ADNFLE OMIM:603204|DOID:0060681|GARD:0011918|SCTID:698021005|Orphanet:98784|OMIM:615005|OMIM:605375|OMIM:600513|MESH:C579932|UMLS:C3696898|ICD9:345.80|OMIM:610353 owl:Class MONDO:0012262 biolink:NamedThing fibrosis of extraocular muscles, congenital, 3c tmpaxzxjjyw_mondo_relaxed.owl Feom4 locus|fibrosis of extraocular muscles, congenital, 3C|CFEOM3C OMIM:609384|MESH:C567666|Orphanet:45358|UMLS:C2750404 owl:Class MONDO:0016358 biolink:NamedThing limited cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms. tmpaxzxjjyw_mondo_relaxed.owl limited cutaneous systemic scleroderma ICD10:M34.1|GARD:0001053|Orphanet:220402|SCTID:298285004 owl:Class MONDO:0016470 biolink:NamedThing Ehlers-Danlos/osteogenesis imperfecta syndrome Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. tmpaxzxjjyw_mondo_relaxed.owl EDS/OI syndrome ICD10:Q79.6|OMIMPS:619115|MESH:C565178|Orphanet:230857|UMLS:CN201460 owl:Class MONDO:0002649 biolink:NamedThing scrotum Paget disease A mammary Paget's disease that involves the scrotum. tmpaxzxjjyw_mondo_relaxed.owl scrotum mammary Paget's disease|scrotal Paget's disease|scrotum Paget disease|Paget disease of the scrotum|scrotum Paget's disease|Paget's disease of scrotum|Paget's disease of the scrotum DOID:3444|UMLS:C0238330|NCIT:C7728 owl:Class MONDO:0021165 biolink:NamedThing Paget disease A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum. tmpaxzxjjyw_mondo_relaxed.owl Paget's disease|Paget disease|Paget cell neoplasm|Paget's cell neoplasm NCIT:C7073 owl:Class MONDO:0013190 biolink:NamedThing factor XIII, b subunit, deficiency of tmpaxzxjjyw_mondo_relaxed.owl factor XIII, b subunit, deficiency of MESH:C567688|OMIM:613235|Orphanet:331 owl:Class MONDO:0003097 biolink:NamedThing childhood mediastinal neurogenic neoplasm tmpaxzxjjyw_mondo_relaxed.owl childhood neurogenic neoplasm of mediastinum|childhood mediastinal neurogenic neoplasm|childhood neurogenic tumor of mediastinum|pediatric neurogenic tumor of the mediastinum|childhood mediastinal neurogenic tumor|pediatric mediastinal neurogenic neoplasm|pediatric neurogenic neoplasm of mediastinum|childhood neurogenic neoplasm of the mediastinum|childhood neurogenic tumor of the mediastinum|pediatric neurogenic neoplasm of the mediastinum|pediatric mediastinal neurogenic tumor|pediatric neurogenic tumor of mediastinum DOID:4690|NCIT:C5429|UMLS:C1332981 owl:Class MONDO:0003098 biolink:NamedThing mediastinal neural neoplasm A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma. tmpaxzxjjyw_mondo_relaxed.owl mediastinal neurogenic tumor|neurogenic tumor of mediastinum|malignant mediastinal neurogenic neoplasm|mediastinal neural tumor|neurogenic tumor of the mediastinum|neurogenic neoplasm of the mediastinum|mediastinal neural neoplasm|neurogenic neoplasm of mediastinum|mediastinal neurogenic neoplasm DOID:4691|UMLS:C1334672|NCIT:C6624 owl:Class HGNC:966 biolink:NamedThing BBS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017594 biolink:NamedThing indolent B-cell non-Hodgkin lymphoma tmpaxzxjjyw_mondo_relaxed.owl indolent B-cell NHL|B cell lymphoma, indolent|indolent B cell lymphoma NCIT:C171299|GARD:0010482|Orphanet:300842 https://rarediseases.info.nih.gov/diseases/10482/indolent-B-cell-lymphoma owl:Class CHEBI:33836 biolink:NamedThing benzenoid aromatic compound tmpaxzxjjyw_mondo_relaxed.owl benzenoid aromatic compounds|benzenoid compound owl:Class MONDO:0012179 biolink:NamedThing narcolepsy 3 tmpaxzxjjyw_mondo_relaxed.owl narcolepsy 3|NRCLP3 UMLS:C1836907|Orphanet:2073|OMIM:609039 owl:Class MONDO:0013450 biolink:NamedThing congenital stationary night blindness 1D Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene. tmpaxzxjjyw_mondo_relaxed.owl SLC24A1 congenital stationary night blindness|night blindness, congenital stationary, type 1D|congenital stationary night blindness 1D autosomal recessive|CSNB1D|congenital stationary night blindness 1D|congenital stationary night blindness type 1D|Csnb, complete, autosomal recessive|congenital stationary night blindness caused by mutation in SLC24A1 OMIM:613830|UMLS:C3151193|DOID:0110868 owl:Class MONDO:0018222 biolink:NamedThing X-linked intellectual disability due to GRIA3 anomalies tmpaxzxjjyw_mondo_relaxed.owl Orphanet:364028|ICD10:F72|OMIM:300699 owl:Class CHEBI:36830 biolink:NamedThing monoanion tmpaxzxjjyw_mondo_relaxed.owl monoanions owl:Class CHEBI:22563 biolink:NamedThing anion A monoatomic or polyatomic species having one or more elementary charges of the electron. tmpaxzxjjyw_mondo_relaxed.owl anions|aniones|anion|Anion|Anionen owl:Class MONDO:0012670 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 63 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT|deafness, autosomal recessive type 63|deafness, autosomal recessive 63|autosomal recessive nonsyndromic deafness 63|autosomal recessive deafness 63|autosomal recessive nonsyndromic deafness type 63|DFNB63|LRTOMT autosomal recessive nonsyndromic deafness UMLS:C1969621|OMIM:611451|ICD10:H90.3|MESH:C566951|DOID:0110515 owl:Class MONDO:0005037 biolink:NamedThing gastric intestinal type adenocarcinoma An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated. tmpaxzxjjyw_mondo_relaxed.owl intestinal gastric adenocarcinoma|gastric intestinal type adenocarcinoma|intestinal adenocarcinoma of stomach|intestinal type stomach adenocarcinoma|intestinal stomach adenocarcinoma|gastric intestinal-type adenocarcinoma|intestinal adenocarcinoma of the stomach EFO:0000504|NCIT:C9157|UMLS:C0279633|ONCOTREE:ISTAD owl:Class MONDO:0007357 biolink:NamedThing colonic varices without portal hypertension tmpaxzxjjyw_mondo_relaxed.owl colonic varices without portal hypertension UMLS:C1852721|OMIM:120440|MESH:C565172 owl:Class UBERON:0006574 biolink:NamedThing pectinate line tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:8410024 biolink:NamedThing intestinal junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004833 biolink:NamedThing lip skeletal muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003671 biolink:NamedThing septal myocardial infarction A myocardial infarction (disease) that involves the cardiac septum. tmpaxzxjjyw_mondo_relaxed.owl myocardial infarction (disease) of cardiac septum|cardiac septum myocardial infarction (disease) DOID:5846 owl:Class UBERON:0010562 biolink:NamedThing pedal digit 1 mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2509 biolink:NamedThing CTNNA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000936 biolink:NamedThing early lymphoid progenitor A lymphoid progenitor cell that is found in bone marrow, gives rise to B cells, T cells, natural killer cells and dendritic cells, and has the phenotype Lin-negative, Kit-positive, Sca-1-positive, FLT3-positive, CD34-positive, CD150 negative, and GlyA-negative. tmpaxzxjjyw_mondo_relaxed.owl GMLP|lymphoid-primed multipotent progenitor|ELP|LMPP Markers are associated with mouse cells. ELP transcription factors include E2A-positive, Ikaros-positive, EBF-negative, Pax5-negative, PU.1-negative. cell owl:Class MONDO:0006027 biolink:NamedThing breast synovial sarcoma A synovial sarcoma (disease) that involves the breast. tmpaxzxjjyw_mondo_relaxed.owl breast synovial sarcoma (disease) EFO:1000019 owl:Class MONDO:0010434 biolink:NamedThing synovial sarcoma Synovial sarcoma is an aggressive soft tissue sarcoma, occurring most commonly in adolescents and young adults (15 to 40 years), usually localized near the large joints of the extremities but also in the head and neck, mediastinum and viscera (lung, kidney etc), clinically presenting as a deep seated swelling or a painful mass often with an initial indolent course and is characterized by its local invasiveness and a propensity to metastasize. The origin of synovial sarcoma is likely from multipotent mesenchymal cells and not synovium (contrary to its name). tmpaxzxjjyw_mondo_relaxed.owl sarcoma, synovial|SS|Synovialosarcoma|synovial sarcoma (disease)|sarcoma, synovial, malignant|synovial sarcoma synovial sarcoma (disease) HP:0012570|DOID:5485|MESH:D013584|ICD9:171.9|EFO:0001376|MedDRA:10042863|OMIM:300813|Orphanet:3273|GARD:0007721|SCTID:302851001|UMLS:C0039101|NCIT:C3400|ICD10:C49.9|ONCOTREE:SYNS|ICDO:9040/3 owl:Class UBERON:0001647 biolink:NamedThing facial nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024474 biolink:NamedThing intraepithelial neoplasia A precancerous neoplastic process that affects the squamous, glandular, or transitional cell epithelium without evidence of invasion. According to the degree of nuclear atypia, number of mitotic figures, and presence of architectural distortion, it is classified as low grade (mild dysplasia) or high grade (moderate or severe dysplasia). tmpaxzxjjyw_mondo_relaxed.owl intraepithelial neoplasia|epithelial dysplasia|intraepithelial neoplasm NCIT:C8366 owl:Class MONDO:0032690 biolink:NamedThing microcephaly, growth deficiency, seizures, and brain malformations tmpaxzxjjyw_mondo_relaxed.owl MIGSB|MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS OMIM:618346 owl:Class GO:0002920 biolink:NamedThing regulation of humoral immune response Any process that modulates the frequency, rate, or extent of a humoral immune response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011043 biolink:NamedThing myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay tmpaxzxjjyw_mondo_relaxed.owl myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay OMIM:601347|UMLS:C1832442|MESH:C563345 owl:Class MONDO:0009872 biolink:NamedThing Bjornstad syndrome Bjrnstad syndrome is characterized by congenital sensorineural hearing loss and pili torti. Less than fifty cases have been reported so far. The hearing loss usually becomes evident very early in life, often in the first year. Pili torti, a condition in which the hair shaft is flattened and twisted, makes the hair very brittle and patients develop hair loss in the first two years of life. Bjrnstad syndrome is transmitted as an autosomal recessive condition. It is caused by mutations in the BCS1L gene. Mutations in this gene also cause GRACILE syndrome. tmpaxzxjjyw_mondo_relaxed.owl pili torti and nerve deafness|BJS|deafness and pili torti, Bjornstad type|PTND|Bjornstad syndrome|deafness-pili torti-hypogonadism syndrome|PTD|BJörnstad syndrome|pili torti-sensorineural hearing loss Orphanet:123|DOID:0050677|UMLS:C0266006|EFO:0002779|OMIM:262000|MESH:C537633|GARD:0000022 https://rarediseases.info.nih.gov/diseases/22/bjornstad-syndrome owl:Class UBERON:0008909 biolink:NamedThing perichordal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012075 biolink:NamedThing replacement bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1224 biolink:NamedThing Proteobacteria tmpaxzxjjyw_mondo_relaxed.owl proteobacteria|purple photosynthetic bacteria|purple non-sulfur bacteria|purple bacteria|Alphaproteobacteriota|Alphaproteobacteraeota|purple photosynthetic bacteria and relatives|purple bacteria and relatives PMID:16280474|PMID:11837318|PMID:26654112|PMID:11321122|PMID:11542017|PMID:29458499|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:2 biolink:NamedThing Bacteria tmpaxzxjjyw_mondo_relaxed.owl Monera|eubacteria|prokaryotes|Prokaryota|Procaryotae|bacteria|Prokaryotae|prokaryote PMID:10843050|PMID:11760965|PMID:11540071|PMID:11542087|PMID:12054223|PMID:11411719|PMID:270744|PMID:10425795|PMID:11542017|PMID:11321113|PMID:10939677|PMID:10939673|PMID:2112744|PMID:9336922|PMID:7520741|GC_ID:11|PMID:11211268|PMID:10490293|PMID:11321083|PMID:8590690|PMID:10425797|PMID:8186100|PMID:10939651|PMID:9103655|PMID:8123559|PMID:10425796 ncbi_taxonomy owl:Class UBERON:0013777 biolink:NamedThing skin of palm of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045721 biolink:NamedThing negative regulation of gluconeogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of gluconeogenesis. tmpaxzxjjyw_mondo_relaxed.owl inhibition of gluconeogenesis|down-regulation of gluconeogenesis|downregulation of gluconeogenesis|down regulation of gluconeogenesis owl:Class CL:0000810 biolink:NamedThing CD4-positive, alpha-beta thymocyte An immature alpha-beta T cell that is located in the thymus and is CD4-positive and CD8-negative. tmpaxzxjjyw_mondo_relaxed.owl SP CD4 cell|CD4-positive, alpha-beta immature T lymphocyte|CD4-positive, alpha-beta immature T-lymphocyte|CD4-positive, alpha-beta immature T-cell cell owl:Class CL:0000893 biolink:NamedThing thymocyte An immature T cell located in the thymus. tmpaxzxjjyw_mondo_relaxed.owl immature T-cell|immature T-lymphocyte|thymic lymphocyte|immature T cell|immature T lymphocyte FMA:72202|CALOHA:TS-1042|XAO:0003159|BTO:0001372 cell owl:Class UBERON:0000970 biolink:NamedThing eye tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000020 biolink:NamedThing sense organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015467 biolink:NamedThing craniosynostosis, Philadelphia type Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A. tmpaxzxjjyw_mondo_relaxed.owl GARD:0001601|OMIM:185900|ICD10:Q87.0|Orphanet:1527|SCTID:720818003 owl:Class MONDO:0007946 biolink:NamedThing jaw-winking syndrome Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis. tmpaxzxjjyw_mondo_relaxed.owl Marcus-Gunn phenomenon|jaw-blinking|mandibulo-palpebral synkinesis-ptosis syndrome|abnormal innervation syndrome of eyelid|jaw-winking syndrome|Marcus-Gunn syndrome|Maxillopalpebral synkinesis|pterygoid-levator synkinesis|Marcus Gunn phenomenon|Marcus Gunn syndrome|jaw-winking|familial Marcus Gunn phenomenon (subtype) ICD10:Q07.8|ICD9:742.8|DOID:560|UMLS:C0266521|MedDRA:10064583|OMIM:154600|MESH:C535908|SCTID:5127009|ICD9:374.43|Orphanet:91412|GARD:0006972 owl:Class MONDO:0004351 biolink:NamedThing intraocular lymphoma A lymphoma that arises within the eye. Signs and symptoms include decreased vision, uveitis, and vitreous floaters. tmpaxzxjjyw_mondo_relaxed.owl intraocular lymphoma|PIOL|primary intraocular non-Hodgkin's lymphoma|primary intraocular lymphoma MESH:D064090|NCIT:C9184|Orphanet:279904|ICD10:C85,7|SCTID:420788006|ICD9:200.50|DOID:775 MONDO:0017206 owl:Class MONDO:0004034 biolink:NamedThing eye lymphoma A lymphoma that involves the eye. tmpaxzxjjyw_mondo_relaxed.owl eye lymphoma|eyeball of camera-type eye lymphoma|primary eye lymphoma|lymphoma of eyeball of camera-type eye DOID:6903|NCIT:C35690|UMLS:C1333519 owl:Class MONDO:0016600 biolink:NamedThing acute neonatal citrullinemia type I Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits. tmpaxzxjjyw_mondo_relaxed.owl classic citrullinemia type I|classic citrullinemia type 1|acute neonatal citrullinemia type 1 UMLS:CN201793|Orphanet:247546|ICD10:E72.2 owl:Class MONDO:0008988 biolink:NamedThing citrullinemia type I Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I). tmpaxzxjjyw_mondo_relaxed.owl citrullinemia, classic|Citrullinuria|classic citrullinemia|argininosuccinic acid synthase deficiency|citrullinemia 1|argininosuccinate synthetase deficiency|citrullinemia, type 1|CTNL1|citrullinemia type 1|CTLN1|ASS deficiency|citrullinemia type I|argininosuccinic acid synthetase deficiency|argininosuccinate synthase deficiency OMIM:215700|MedDRA:10058298|NCIT:C150601|ICD10:E72.2|GARD:0006114|UMLS:C0175683|SCTID:398680004|DOID:0070340|Orphanet:247525 owl:Class HGNC:11937 biolink:NamedThing CD70 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0005656 biolink:NamedThing Positional foot deformity A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025161 human_phenotype owl:Class HP:0001760 biolink:NamedThing Abnormal foot morphology An abnormality of the skeleton of foot. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the foot|Abnormal feet structure|Foot deformity|Abnormality of the feet|Foot deformities SNOMEDCT_US:229844004|UMLS:C0016506|MSH:D005530 A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. HP:0010216|HP:0010611 human_phenotype owl:Class MONDO:0017079 biolink:NamedThing meningoencephalocele A congenital abnormality in which the meninges protrude through a defect in the cranium. tmpaxzxjjyw_mondo_relaxed.owl meningoencephalocele|cephalocele (disease) of brain meninx|encephalomeningocele|cranial meningocele|brain meninx cephalocele (disease) Orphanet:268820|UMLS:C0009694|ICD10:Q01.0|ICD10:Q01.2|GARD:0003473|ICD10:Q01.1|SCTID:52330001|NCIT:C124517|ICD10:Q01.8|ICD10:Q01.9 owl:Class MONDO:0012391 biolink:NamedThing neuronal ceroid lipofuscinosis 8 northern epilepsy variant Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision. tmpaxzxjjyw_mondo_relaxed.owl progressive epilepsy with mental retardation, northern epilepsy|epilepsy mental deterioration Finnish type|CLN8 disease, late infantile (subtype)|CLN8 disease, EPMR (subtype)|epilepsy, progressive, with intellectual disability|ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant|ceroid lipofuscinosis neuronal 8|neuronal ceroid lipofuscinosis, Northern epilepsy variant|EPMR|Northern epilepsy|progressive epilepsy with intellectual disability, northern epilepsy|progressive epilepsy-intellectual disability syndrome, Finnish type|NCL, Northern epilepsy variant|progressive epilepsy - intellectual disability, Finnish type|northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant|CLN8|neuronal ceroid lipofuscinosis 8|CLN8 disease, Northern epilepsy variant|epilepsy, progressive, with mental retardation ICD10:E75.4|Orphanet:1947|OMIM:600143|GARD:0002163|DOID:0110724|GARD:0004010|OMIM:610003 https://rarediseases.info.nih.gov/diseases/2163/epilepsy-mental-deterioration-finnish-type|https://rarediseases.info.nih.gov/diseases/4010/northern-epilepsy owl:Class MONDO:0010830 biolink:NamedThing neuronal ceroid lipofuscinosis 8 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN8 gene. tmpaxzxjjyw_mondo_relaxed.owl ceroid lipofuscinosis, neuronal, type 8|neuronal ceroid lipofuscinosis type 8|neuronal ceroid lipofuscinosis caused by mutation in CLN8|CLN8 disease|ceroid lipofuscinosis, neuronal, 8|neuronal ceroid lipofuscinosis 8|CLN8|CLN8 neuronal ceroid lipofuscinosis OMIM:600143|MESH:C537952|DOID:0110723|Orphanet:79264|ICD10:E75.4|Orphanet:228354|Orphanet:168491|SCTID:703526007 owl:Class MONDO:0033187 biolink:NamedThing combined oxidative phosphorylation defect type 29 tmpaxzxjjyw_mondo_relaxed.owl Orphanet:478029 owl:Class MONDO:0005979 biolink:NamedThing thoracic outlet syndrome A syndrome resulting from the compression of the blood vessels or nerves in the space between the clavicle and first rib (thoracic outlet). It is caused by car accident injuries or repetitive job or sport-related injuries. Signs and symptoms include pain in the shoulders and neck, numbness in the fingers, and weakening grip. tmpaxzxjjyw_mondo_relaxed.owl TOS|thoracic outlet compression syndrome|TOS - thoracic outlet syndrome MedDRA:10048627|DOID:3103|SCTID:2040007|EFO:0007507|SCTID:128210009|ICD10:G54.0|UMLS:C0039984|NCIT:C85188|Orphanet:97330|MESH:D013901 owl:Class NCBITaxon:400053 biolink:NamedThing Sylvaemus group tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:10128 biolink:NamedThing Apodemus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018564 biolink:NamedThing 3p25.3 microdeletion syndrome 3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability-epilepsy-stereotypic hand movement syndrome|Del(3)p(25.3)|monosomy 3p25.3 ICD10:Q93.5|Orphanet:435638|UMLS:CN237571 owl:Class MONDO:0016885 biolink:NamedThing partial deletion of the short arm of chromosome 3 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of the short arm of chromosome 3|partial monosomy of chromosome 3p|partial deletion of chromosome 3p|partial deletion of the short arm of chromosome type 3 ICD10:Q93.5|Orphanet:261875 owl:Class OBO:CHR_9606-chr19p13 biolink:NamedThing 19p13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 19900000 0 hg38 owl:Class FOODON:03305803 biolink:NamedThing goat milk (raw) tmpaxzxjjyw_mondo_relaxed.owl SUBSET_SIREN:F5803 SIREN DB annotation: * has quality 'liquid, low viscosity, with no visible particles' (http://purl.obolibrary.org/obo/FOODON_03430123) * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) http://langual.org subset_siren owl:Class FOODON:00001911 biolink:NamedThing goat dairy food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007025 biolink:NamedThing chancre The primary sore of syphilis, a painless indurated, eroded papule, occurring at the site of entry of the infection. tmpaxzxjjyw_mondo_relaxed.owl MESH:D002601|EFO:1001247 owl:Class GO:0045723 biolink:NamedThing positive regulation of fatty acid biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids. tmpaxzxjjyw_mondo_relaxed.owl up regulation of fatty acid biosynthetic process|positive regulation of fatty acid anabolism|up-regulation of fatty acid biosynthetic process|positive regulation of fatty acid biosynthesis|stimulation of fatty acid biosynthetic process|activation of fatty acid biosynthetic process|positive regulation of fatty acid synthesis|positive regulation of fatty acid formation|upregulation of fatty acid biosynthetic process owl:Class GO:1903707 biolink:NamedThing negative regulation of hemopoiesis Any process that stops, prevents or reduces the frequency, rate or extent of hemopoiesis. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of hemopoiesis|inhibition of hemopoiesis|downregulation of hemopoiesis|inhibition of blood cell formation|down-regulation of hematopoiesis|negative regulation of blood cell formation|down regulation of hematopoiesis|inhibition of haemopoiesis|down regulation of blood cell biosynthesis|down-regulation of blood cell biosynthesis|downregulation of blood cell biosynthesis|down regulation of hemopoiesis|inhibition of blood cell biosynthesis|downregulation of haemopoiesis|down-regulation of blood cell formation|negative regulation of hematopoiesis|negative regulation of haemopoiesis|down regulation of blood cell formation|down-regulation of haemopoiesis|downregulation of hematopoiesis|down regulation of haemopoiesis|downregulation of blood cell formation|negative regulation of blood cell biosynthesis|inhibition of hematopoiesis owl:Class GO:0002683 biolink:NamedThing negative regulation of immune system process Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. tmpaxzxjjyw_mondo_relaxed.owl downregulation of immune system process|down-regulation of immune system process|down regulation of immune system process|inhibition of immune system process owl:Class MONDO:0014864 biolink:NamedThing hypermanganesemia with dystonia 2 Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene. tmpaxzxjjyw_mondo_relaxed.owl HMNDYT2|hypermanganesemia with dystonia 2|SLC39A14 hypermanganesemia with dystonia|hypermanganesemia with dystonia type 2|hypermanganesemia with dystonia caused by mutation in SLC39A14|hypermanganesemia with dystonia 2; HMNDYT2 Orphanet:521406|UMLS:C4310765|OMIM:617013|SCTID:768554008|DOID:0080537 owl:Class MONDO:0000214 biolink:NamedThing hypermanganesemia with dystonia tmpaxzxjjyw_mondo_relaxed.owl SCTID:768553002|DOID:0080535|OMIMPS:613280 owl:Class MONDO:0003620 biolink:NamedThing peripheral nervous system disorder A disease involving the peripheral nervous system. tmpaxzxjjyw_mondo_relaxed.owl disorder of peripheral nervous system|peripheral nervous system disease or disorder|disorder of the peripheral nervous system|peripheral neuropathy|PNS (peripheral nervous system) diseases|nerve disease, peripheral|nerve diseases, peripheral|disease of peripheral nervous system|peripheral nerve diseases|peripheral nerve disease|PNS disease|peripheral Neuropathies|PNS diseases|peripheral nervous system disorders|disease or disorder of peripheral nervous system|peripheral nervous system disease|neuropathy, peripheral|peripheral nervous system disorder MESH:D010523|ICD10:G64|SCTID:42658009|ICD9:350-359.99|ICD9:356.9|DOID:574|NCIT:C119734|NCIT:C27580 owl:Class MONDO:0004385 biolink:NamedThing adult xanthogranuloma A xanthogranuloma that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl adult xanthogranuloma|xanthogranuloma of adults NCIT:C27514|DOID:7875|UMLS:C1332220 owl:Class MONDO:0024617 biolink:NamedThing xanthogranuloma tmpaxzxjjyw_mondo_relaxed.owl xanthogranuloma NCIT:C27302|SCTID:189099001 owl:Class GO:1903998 biolink:NamedThing regulation of eating behavior Any process that modulates the frequency, rate or extent of eating behavior. tmpaxzxjjyw_mondo_relaxed.owl regulation of eating behaviour owl:Class UBERON:0005144 biolink:NamedThing metanephric glomerular capillary tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004703 biolink:NamedThing bladder carcinoma in situ Also known as carcinoma in situ of the urinary bladder or high grade intraurothelial neoplasia, this is a flat lesion of the transitional cell epithelium characterized by severe cytologic atypia. This lesion is confined to the urothelium, and is a precursor of invasive transitional cell carcinoma of the bladder. Stage 0is includes: Tis, N0, M0. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) tmpaxzxjjyw_mondo_relaxed.owl high grade bladder Intraurothelial neoplasia|cancer in situ of urinary bladder|stage 0is bladder urothelial carcinoma|stage 0is bladder cancer|stage 0is bladder carcinoma|stage 0is bladder urothelial cancer|urinary bladder flat carcinoma in situ|stage 0is bladder urothelial carcinoma aJCC v6|carcinoma in situ of urinary bladder|stage 0is bladder urothelial carcinoma aJCC v7|stage 0 urinary bladder carcinoma|urinary bladder in situ carcinoma|flat CIS of the bladder|carcinoma in situ of bladder|stage 0is carcinoma of the bladder|stage 0is carcinoma of the urinary bladder|bladder flat carcinoma in situ|urinary bladder carcinoma in situ|flat carcinoma in situ of the bladder|stage 0is bladder urothelial carcinoma aJCC v6 and v7|stage 0is carcinoma of urinary bladder|carcinoma in situ of the urinary bladder|bladder Ca in situ|stage 0is carcinoma of bladder|flat carcinoma in situ of the urinary bladder|flat CIS of the urinary bladder|urinary bladder flat CIS|stage 0is urinary bladder carcinoma|bladder flat CIS ICD9:233.7|ICD10:D09.0|DOID:9053|SCTID:92546004|UMLS:C0154091|NCIT:C3644 owl:Class MONDO:0006111 biolink:NamedThing bladder flat intraepithelial lesion A non-papillary neoplasm of the urinary bladder, whose classification categories include low-grade intraurothelial neoplasia and urothelial carcinoma in situ. tmpaxzxjjyw_mondo_relaxed.owl flat intraepithelial lesion of the bladder|flat intraepithelial lesion of the urinary bladder|urinary bladder flat intraepithelial lesion|bladder flat intraepithelial lesion NCIT:C37266|DOID:5429|UMLS:C1332559|EFO:1000126 owl:Class UBERON:0005400 biolink:NamedThing telencephalon arachnoid mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002362 biolink:NamedThing arachnoid mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015430 biolink:NamedThing ring chromosome 1 Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. tmpaxzxjjyw_mondo_relaxed.owl chromosome 1 ring|chromosome 1, ring|r(1) syndrome|R1|Ring 1|Ring chromosome type 1|Ring chromosome 1 syndrome Orphanet:1437|SCTID:47017007|MESH:C535361|ICD10:Q93.2|GARD:0001320|UMLS:CN036412|NCIT:C36474|GTR:AN0102272 owl:Class MONDO:0005277 biolink:NamedThing migraine disorder A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity. tmpaxzxjjyw_mondo_relaxed.owl migraine disorder|migraine headache|migraine|migraine variant|migraine with or without aura ICD10:G43.9|EFO:0003821|NCIT:C113482|ICD9:346|DOID:6364|ICD10:G43.909|ICD10:G43|ICD9:346.9|SCTID:37796009|NCIT:C89715|MESH:D008881 owl:Class CHEBI:33431 biolink:NamedThing elemental chlorine tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:23117 biolink:NamedThing chlorine molecular entity A halogen molecular entity containing one or more atoms of chlorine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023581 biolink:NamedThing Kuster syndrome tmpaxzxjjyw_mondo_relaxed.owl cleft lip palate lip pits limb deficiency|cleft lip and palate, lower lip pits, and limb deficiency defects GARD:0003152|UMLS:C2931741|MESH:C538126 https://rarediseases.info.nih.gov/diseases/3152/kuster-syndrome owl:Class MONDO:0004747 biolink:NamedThing cleft lip A congenital abnormality consisting of one or more clefts (splits) in the upper lip, which may be accompanied by a cleft palate; it is the result of the failure of the embryonic parts of the lip to fuse. tmpaxzxjjyw_mondo_relaxed.owl hare lip|complete unilateral cleft lip|labium leporinum|cleft lip|cheiloschisis|cleft lip (disease)|cleft lip, unilateral, complete cleft lip (disease) SCTID:80281008|EFO:0003959|ICD9:749.1|ICD10:Q36|ICD9:749.10|ICD10:Q36.9|MESH:D002971|NCIT:C87175|DOID:9296|HP:0410030|ICD9:749.11 owl:Class GO:0006568 biolink:NamedThing tryptophan metabolic process The chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpaxzxjjyw_mondo_relaxed.owl tryptophan metabolism owl:Class GO:0009072 biolink:NamedThing aromatic amino acid family metabolic process The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). tmpaxzxjjyw_mondo_relaxed.owl aromatic amino acid family metabolism owl:Class GO:0006165 biolink:NamedThing nucleoside diphosphate phosphorylation The process of introducing a phosphate group into a nucleoside diphosphate to produce a nucleoside triphosphate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007956 biolink:NamedThing Pai syndrome Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. tmpaxzxjjyw_mondo_relaxed.owl Pai syndrome|cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa|median cleft of upper lip with polyps of facial skin and nasal mucosa|cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa|median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome GARD:0003439|UMLS:C1835087|Orphanet:1993|OMIM:155145|MESH:C536135|ICD10:Q87.8|SCTID:722201004 https://rarediseases.info.nih.gov/diseases/3439/median-cleft-of-upper-lip-with-polyps-of-facial-skin-and-nasal-mucosa owl:Class MONDO:0016643 biolink:NamedThing frontonasal dysplasia A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement. tmpaxzxjjyw_mondo_relaxed.owl median cleft syndrome|median cleft face syndrome|frontonasal dysplasia 1|FND1 Orphanet:250|GARD:0002392|NCIT:C129028|ICD10:Q75.8|MESH:C538065|SCTID:86610004|OMIMPS:136760|UMLS:C1876203 owl:Class UBERON:0008816 biolink:NamedThing embryonic head tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000033 biolink:NamedThing head tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060732 biolink:NamedThing tetraamelia syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl tetraamelia syndrome 2|TETAMS2|tetraamelia syndrome 2 with pulmonary agenesis OMIM:618021 owl:Class GO:0019900 biolink:NamedThing kinase binding Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003187 biolink:NamedThing Bartholin gland adenoid cystic carcinoma A carcinoma that arises from the Bartholin gland and is characterized by the presence of islands of uniform malignant cells forming cribriform patterns. tmpaxzxjjyw_mondo_relaxed.owl Bartholin's gland adenoid cystic carcinoma|Bartholin gland adenoid cystic carcinoma|major vestibular gland adenoid cystic carcinoma UMLS:C1511047|NCIT:C40295|DOID:4879 owl:Class MONDO:0003853 biolink:NamedThing Bartholin gland adenocarcinoma A carcinoma that arises from glandular epithelial cells of the major vestibular gland. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of Bartholin's gland|major vestibular gland adenocarcinoma|Bartholin gland adenocarcinoma|adenocarcinoma of the Bartholin's gland NCIT:C7719|DOID:6316|UMLS:C0238016 owl:Class MONDO:0002121 biolink:NamedThing mononeuritis simplex Neuritis of a single nerve. tmpaxzxjjyw_mondo_relaxed.owl mononeuritis SCTID:32595002|UMLS:C0235880|ICD9:355.9|DOID:1802 owl:Class MONDO:0011092 biolink:NamedThing ribbing disease Ribbing disease is a rare bone disease that causes bony growths on the long bones, such as the thigh bone and shine bone.Ribbing diseaseaffects women more frequently than men. The most common symptom is pain. A single studyof 14 patients found an association between Ribbing disease and impaired exercise tolerance and changes in heart function (i.e., increased prevalence of arrhythmia and changes in left ventricular systolic and diastolic function).The cause of the condition iscurrently unknown, although some cases appear to be genetic and inherited in an autosomal recessive fashion.Optimal treatment for the disease is largely unknown. There have been case reports describingtreatment of Ribbing diseasewith bisphosphonate pamidronate. Results have been mixed. The conditionoften resolves on its own; howevercases of progressive disease have been described. tmpaxzxjjyw_mondo_relaxed.owl hereditary multiple diaphyseal sclerosis|multiple diaphyseal sclerosis|diaphyseal sclerosis, multiple|ribbing disease MESH:C537613|UMLS:C1832273|GARD:0008494|OMIM:601477 https://rarediseases.info.nih.gov/diseases/8494/ribbing-disease owl:Class HGNC:9153 biolink:NamedThing PNKD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011823 biolink:NamedThing developmental malformations-deafness-dystonia syndrome Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome. tmpaxzxjjyw_mondo_relaxed.owl DJO|juvenile-onset dystonia|dystonia, juvenile-onset MESH:C537704|OMIM:607371|UMLS:C1846331|GARD:0009818|ICD10:Q87.8|Orphanet:79107 https://rarediseases.info.nih.gov/diseases/9818/juvenile-onset-dystonia owl:Class MONDO:0022572 biolink:NamedThing bilateral renal agenesis dominant type tmpaxzxjjyw_mondo_relaxed.owl GARD:0000885 https://rarediseases.info.nih.gov/diseases/885/bilateral-renal-agenesis-dominant-type owl:Class OBO:CHR_9606-chr17q21.3 biolink:NamedThing 17q21.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 52100000 42800000 hg38 owl:Class MONDO:0004051 biolink:NamedThing aleukemic monocytic leukemia cutis tmpaxzxjjyw_mondo_relaxed.owl aleukemic monocytic leukemia cutis NCIT:C5630|DOID:6958|UMLS:C1332232 owl:Class MONDO:0007896 biolink:NamedThing acute monocytic leukemia Acute monoblastic leukemia (AML-M5), is one of the most common subtypes of acute myeloid leukemia (AML) that is either comprised of more than 80% of monoblasts (AML-M5a) or 30-80% monoblasts with (pro)monocytic differentiation (AML-M5b). AML-M5 presents with asthenia, pallor, fever, and dizziness. Specific features of AML-M5 include hyperleukocytosis, propensity for extramedullary infiltrates, coagulation abnormalities including disseminated intravascular coagulation and neurological disorders. Leukemia cutis and gingival infiltration can also be seen. A characteristic translocation observed in AML-M5 is t(9;11). tmpaxzxjjyw_mondo_relaxed.owl acute monoblastic leukemia and acute monocytic leukemia|acute monocytic leukemia, FAB M5|acute monoblastic/monocytic leukemia|acute monocytic leukemia without mention of remission|acute monocytic leukemia (FAB M5b)|acute monocytic leukemia, morphology (morphologic abnormality)|acute monoblastic leukemia|acute monocytic leukemia (FAB M5B)|leukemia, acute monocytic|acute myeloblastic leukemia type 5|leukemia, monocytic, malignant|acute monocytic leukemia|monocytic leukemia|monocytic leukemia, acute|AML M5|AML-M5|acute monocytic leukemia, morphology EFO:0000221|ICD9:206.0|OMIM:151380|GARD:0000525|DOID:8864|MESH:D007948|SCTID:413441006|NCIT:C4861|Orphanet:514|UMLS:C0023479|UMLS:C0023465|ONCOTREE:AMOL|MedDRA:10000871|CSP:2004-2820|ICDO:9891/3|MedDRA:10059439|UMLS:C1318544|ICD10:C92.7 https://rarediseases.info.nih.gov/diseases/525/acute-monoblastic-leukemia owl:Class GO:0035930 biolink:NamedThing corticosteroid hormone secretion The regulated release of any corticosteroid hormone into the circulatory system. tmpaxzxjjyw_mondo_relaxed.owl corticosteroid secretion owl:Class GO:0035929 biolink:NamedThing steroid hormone secretion The regulated release of any steroid that acts as a hormone into the circulatory system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13997 biolink:NamedThing PRDM12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004638 biolink:NamedThing blood vessel endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019778 biolink:NamedThing Smith-Fineman-Myers syndrome Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpaxzxjjyw_mondo_relaxed.owl Smith Fineman Myers syndrome|mental retardation Smith Fineman Myers type|intellectual disability Smith Fineman Myers type OMIM:309580|MESH:C537445|Orphanet:93974|GARD:0003521|UMLS:C0796159|SCTID:719212004 owl:Class MONDO:0010663 biolink:NamedThing X-linked intellectual disability-hypotonic face syndrome Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features. tmpaxzxjjyw_mondo_relaxed.owl mental Retradation, X-linked with Growth delay, deafness, Microgenitalism|intellectual disability, X-linked, with growth retardation, deafness, and microgenitalism|intellectual disability-hypotonic facies syndrome, X-linked, type 1|X-linked hypogonadism gynecomastia intellectual disability|Juberg Marsidi syndrome|Holmes-Gang syndrome|Juberg-Marsidi mental retardation syndrome|MRXHF1|mental retardation-hypotonic facies syndrome, X-linked, 1|intellectual disability-hypotonic facies syndrome, X-linked, 1|Carpenter-Waziri syndrome|Smith-Fineman-Myers syndrome 1|XLMR-hypotonic facies syndrome|X-linked hypogonadism gynecomastia mental retardation|JMS|Chudley-Lowry syndrome|mental retardation, X-linked, with growth retardation, deafness, and microgenitalism|mental retardation-hypotonic facies syndrome, X-linked, type 1|Juberg-Marsidi syndrome|sfms Orphanet:93975|Orphanet:73220|GARD:0000081|UMLS:CN205653|Orphanet:93974|Orphanet:93972|Orphanet:93970|OMIM:309580|Orphanet:93971|Orphanet:93973 owl:Class MONDO:0020711 biolink:NamedThing selective peripheral resistance to thyroid hormone A thyroid hormone resistance syndrome characterized by resistance in peripheral tissues but not in the pituitary. tmpaxzxjjyw_mondo_relaxed.owl PerRTH owl:Class MONDO:0001328 biolink:NamedThing thyroid hormone resistance syndrome An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine. tmpaxzxjjyw_mondo_relaxed.owl resistance to thyroid stimulating hormone|generalized thyroid hormone resistance|RTH|resistance to thyrotropin|thyroid hormone responsiveness defect|thyroid hormone resistance|thyroid hormone resistance syndrome|TSH resistance ICD9:259.8|OMIM:188570|OMIM:274300|MESH:D018382|NCIT:C85191|UMLS:CN118820|SCTID:111567006|DOID:11633 owl:Class MONDO:0060688 biolink:NamedThing hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency tmpaxzxjjyw_mondo_relaxed.owl hyperthyroxinemia, euthyroid, caused by generalized 5-prime-deiodinase deficiency|hyperthyroxinemia, euthyroid, due to decreased peripheral conversion of T4 UMLS:CN244571|OMIM:617953 owl:Class MONDO:0004090 biolink:NamedThing vulvar basaloid squamous cell carcinoma A squamous cell carcinoma that arises from the vulva and is characterized by the presence of nests of malignant basaloid cells with a scant amount of cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl vulvar basaloid squamous cell carcinoma|vulvar basaloid carcinoma UMLS:C2211850|NCIT:C40286|DOID:7048 owl:Class MONDO:0006286 biolink:NamedThing major salivary gland mucoepidermoid carcinoma A carcinoma that arises from the major salivary glands. It usually arises from the parotid gland. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome. tmpaxzxjjyw_mondo_relaxed.owl major salivary gland mucoepidermoid cancer|mucoepidermoid carcinoma of Major salivary gland|major salivary gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the Major salivary gland EFO:1000346|UMLS:C1334551|NCIT:C5906 owl:Class UBERON:0001068 biolink:NamedThing skin of back tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005248 biolink:NamedThing bulbus cordis myocardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033649 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 14 tmpaxzxjjyw_mondo_relaxed.owl MC4DN14 OMIM:619058 owl:Class MONDO:0033885 biolink:NamedThing mitochondrial complex IV deficiency, nuclear-type tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:220110 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0000424 biolink:NamedThing inborn vitamin B12 deficiency Low serum levels of vitamin B12 (cobalamin) due to poor intestinal absorption, decreased dietary intake, or increased physiologic requirement. tmpaxzxjjyw_mondo_relaxed.owl hypocobalaminemia|inborn vitamin B12 deficiency (disease)|rare inborn error of cobalamin metabolic process|inborn cobalamin metabolic process disorder|inborn error of cobalamin metabolic process|cobalamin deficiency inborn vitamin B12 deficiency (disease) DOID:0050731|EFO:0000734 owl:Class MONDO:0020696 biolink:NamedThing vitamin B12 deficiency A disease characterized by low serum levels of vitamin B12, either inherited or acquired. tmpaxzxjjyw_mondo_relaxed.owl cobalamin deficiency|vitamin b12 deficiency|hypocobalaminemia SCTID:190634004|HP:0100502|MESH:D014806|UMLS:C0042847|ICD9:266.2|NCIT:C131684 owl:Class MONDO:0002376 biolink:NamedThing spleen angiosarcoma A malignant vascular neoplasm arising from the spleen. tmpaxzxjjyw_mondo_relaxed.owl angiosarcoma (disease) of spleen|spleen angiosarcoma (disease)|splenic hemangiosarcoma|angiosarcoma of spleen|hemangiosarcoma of spleen|hemangiosarcoma of the spleen|angiosarcoma of the spleen|splenic angiosarcoma UMLS:C0346424|NCIT:C4564|SCTID:187821001|DOID:265|ICD9:159.1 owl:Class MONDO:0023171 biolink:NamedThing foix chavany Marie syndrome Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved. tmpaxzxjjyw_mondo_relaxed.owl anterior opercular syndrome|congenital Foix-Chavany-Marie syndrome (subtype)|congenital Foix-Chavany-Marie syndrome|facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation|facio-Labio-pharyngo-Glosso-laryngo-brachial paralysis|bilateral anterior opercular syndrome|pseudobulbar paralysis, cortical type|foix chavany Marie syndrome|opercular syndrome, anterior|facio-pharyngo-glosso-masticatory diplegia UMLS:C2931412|GARD:0002351|MESH:C537069|SCTID:720956003|Orphanet:2048 https://rarediseases.info.nih.gov/diseases/2351/foix-chavany-marie-syndrome owl:Class MONDO:0011338 biolink:NamedThing Omenn syndrome An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID). tmpaxzxjjyw_mondo_relaxed.owl reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia|combined immunodeficiency with hypereosinophilia|Omenn syndrome|reticuloendotheliosis familial with eosinophilia NCIT:C61240|SCTID:722067005|GARD:0008198|DOID:0060010|ICD10:D81.8|OMIM:603554|Orphanet:39041|UMLS:C1801959|MedDRA:10069097 https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome owl:Class CHEBI:63048 biolink:NamedThing 1,3-thiazolium cation An organic cation resulting from protonation or quaternisation at the 3-position of any 1,3-thiazole. tmpaxzxjjyw_mondo_relaxed.owl 1,3-thiazolium cations owl:Class CHEBI:25697 biolink:NamedThing organic cation Any organic ion with a net positive charge. tmpaxzxjjyw_mondo_relaxed.owl organic cations owl:Class MONDO:0013532 biolink:NamedThing protein Z deficiency tmpaxzxjjyw_mondo_relaxed.owl protein Z deficiency OMIM:614024|UMLS:C3151465 owl:Class CHEBI:74818 biolink:NamedThing heteroaryl hydroxy compound Any organic aromatic compound having one or more hydroxy groups attached to a heteroarene ring. tmpaxzxjjyw_mondo_relaxed.owl heteroaromatic hydroxy compounds|hetaryl hydroxy compounds|heteroaromatic hydroxy compound|hetaryl hydroxy compound|heteroaryl hydroxy compounds owl:Class UBERON:0011756 biolink:NamedThing male genital swelling tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011754 biolink:NamedThing genital swelling tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2267273 biolink:NamedThing Dibothriocephalus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:28843 biolink:NamedThing Diphyllobothriidae tmpaxzxjjyw_mondo_relaxed.owl Ligulidae GC_ID:1 NCBITaxon:1256674|NCBITaxon:94843 ncbi_taxonomy owl:Class MONDO:0005509 biolink:NamedThing histiocytoma A mesenchymal tumor composed of fibroblastic and histiocytic cells. tmpaxzxjjyw_mondo_relaxed.owl histiocytoma SCTID_2010_1_31:302843004|DOID:4231|NCIT:C35765|SCTID_2010_1_31:154614002|SCTID_2010_1_31:72079004|ICDO:8831/0|MESH:D051642|UMLS:C1509147|OMIM:612160|SCTID_2010_1_31:189773000|SCTID_2010_1_31:128741006|EFO:0005561 owl:Class GO:0014070 biolink:NamedThing response to organic cyclic compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic cyclic compound stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to organic cyclic substance owl:Class MONDO:0033372 biolink:NamedThing developmental and epileptic encephalopathy, 63 tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 63|EIEE63|DEE63 DOID:0080426|UMLS:CN244926|OMIM:617976 owl:Class GO:0031966 biolink:NamedThing mitochondrial membrane Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005249 biolink:NamedThing metanephric renal pelvis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001224 biolink:NamedThing renal pelvis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012819 biolink:NamedThing diabetic ketoacidosis The metabolic condition resulted from uncontrolled diabetes mellitus, in which the shift of acid-base status of the body toward the acid side because of loss of base or retention of acids other than carbonic acid is accompanied by the accumulation of ketone bodies in body tissues and fluids. tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, ketosis-prone|KPD|ketosis-prone diabetes mellitus OMIM:612227|DOID:1837|NCIT:C50530|SCTID:420422005|ICD9:250.10|ICD9:250.1|EFO:1000897|UMLS:C0011880|MESH:D016883|MedDRA:10012671 owl:Class HGNC:1268 biolink:NamedThing TSPEAR tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6176 biolink:NamedThing ITPA tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1900130 biolink:NamedThing regulation of lipid binding Any process that modulates the frequency, rate or extent of lipid binding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21062 biolink:NamedThing FARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020682 biolink:NamedThing Ehlers-Danlos syndrome, spondylodysplastic type, 1 tmpaxzxjjyw_mondo_relaxed.owl galactosyltransferase 1 deficiency|xylosylprotein 4-Beta-galactosyltransferase deficiency|Ehlers-Danlos syndrome, progeroid type 1|Ehlers-Danlos syndrome, progeroid type, 1|Ehlers-Danlos syndrome, spondylodysplastic type, 1|Ehlers-Danlos syndrome, progeroid type, 1, formerly|PDS, defective biosynthesis of|EDSSPD1|dermatan sulfate proteoglycan|XGPT deficiency|Ehlers-Danlos syndrome with Short stature and Limb anomalies|proteodermatan sulfate, defective biosynthesis of OMIM:130070 https://github.com/monarch-initiative/mondo/issues/4025 owl:Class MONDO:0007526 biolink:NamedThing Ehlers-Danlos syndrome, spondylodysplastic type A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars. tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, spondylodysplastic type, 1|galactosyltransferase 1 deficiency|EDS, progeroid type|spondylodysplastic Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, progeroid type (former)|galactosyltransferase I deficiency|defective biosynthesis of proteodermatan sulfate|Ehlers-Danlos syndrome, progeroid type|Pds, defective biosynthesis of|dermatan sulfate proteoglycan|XGPT deficiency|PDS|EDSSPD1|Ehlers-Danlos syndrome with short stature and limb anomalies|Ehlers-Danlos syndrome progeroid type|proteodermatan sulfate, defective biosynthesis of|xylosylprotein 4-beta-galactosyltransferase deficiency|B4GALT7-CDG OMIM:615349|Orphanet:75496|MESH:C536201|UMLS:C1869122|DOID:0050802|GARD:0009991|ICD10:Q79.6|SCTID:720861000 owl:Class MONDO:0006010 biolink:NamedThing salmonid viral hemorrhagic septicemia A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see novirhabdovirus), tmpaxzxjjyw_mondo_relaxed.owl EFO:0007539|UMLS:C1135869|MESH:D031941 owl:Class MONDO:0024934 biolink:NamedThing fish disease Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates). tmpaxzxjjyw_mondo_relaxed.owl disease, fish|fish disease|diseases, fish MESH:D005393|UMLS:C0016154 owl:Class GO:0004092 biolink:NamedThing carnitine O-acetyltransferase activity Catalysis of the reaction: acetyl-CoA + carnitine = (R)-O-acetylcarnitine + CoA. tmpaxzxjjyw_mondo_relaxed.owl acetylcarnitine transferase activity|carnitine-acetyl-CoA transferase activity|carnitine O-acetyltransferase II activity|carnitine acetyl coenzyme A transferase activity|acetyl-CoA:carnitine O-acetyltransferase activity|CATC|carnitine O-acetyltransferase I activity|acetyl-CoA-carnitine O-acetyltransferase activity|carnitine acetyltransferase activity|carnitine acetylase activity owl:Class GO:0016406 biolink:NamedThing carnitine O-acyltransferase activity Catalysis of the transfer of an acyl group to an oxygen atom on the carnitine molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001913 biolink:NamedThing milk An emulsion of fat globules within a fluid that is secreted by the mammary gland during lactation. tmpaxzxjjyw_mondo_relaxed.owl mammal milk|mammary gland milk owl:Class FOODON:03315150 biolink:NamedThing mammalian milk product tmpaxzxjjyw_mondo_relaxed.owl SUBSET_SIREN:F15150 SIREN DB annotation: * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) http://langual.org subset_siren owl:Class HGNC:2621 biolink:NamedThing CYP2C19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000022 biolink:NamedThing Abnormality of male internal genitalia An abnormality of the male internal genitalia. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025899 The internal genital structures of the male including the testis, epididymis, vas deferens, seminal vesicle, ejaculatory duct, bulbourethral gland, and the prostate. human_phenotype owl:Class GO:0045637 biolink:NamedThing regulation of myeloid cell differentiation Any process that modulates the frequency, rate or extent of myeloid cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003359 biolink:NamedThing myxoid leiomyosarcoma A morphologic variant of leiomyosarcoma characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma. tmpaxzxjjyw_mondo_relaxed.owl myxoid leiomyosarcoma (morphologic abnormality)|myxoid leiomyosarcoma ICDO:8896/3|DOID:5268|NCIT:C3701|UMLS:C0205816|MESH:D007890 owl:Class MONDO:0015914 biolink:NamedThing primary orthostatic hypotension Primary orthostatic hypotension is a rare type of orthostatic hypotension. It is not a disease per se, but a condition caused by several disorders that affect a specific part of the autonomic nervous system, such as multiple system atrophy, young-onset Parkinson's disease, pure autonomic failure, dopamine beta-hydroxylase deficiency, familial dysautonomia, and pure autonomic failure among others. The autonomic nervous system is the part of the nervous system that regulates certain involuntary body functions such as heart rate, blood pressure, sweating, and bowel and bladder control. Orthostatic hypotension is a form of low blood pressure that happens when standing-up from sitting or lying down. Common symptoms may include dizziness, lightheadedness, generalized weakness, leg buckling, nausea, blurry vision, fatigue, and headaches. Additional symptoms can include chest pain (angina), head and neck pain (often affecting neck and shoulders with a coat hanger distribution), decline in cognitive functioning such as difficulty concentrating, temporary loss of consciousness or “blackout”. Some people with primary orthostatic hypotension may also have high blood pressure when lying down. The treatment depends upon several factors including the specific underlying cause including The treatment depends upon several factors including the specific underlying cause and may include physical counter-maneuvers like lying down, sitting down, squatting clenching buttocks, leg crossing, and support garment and medication. tmpaxzxjjyw_mondo_relaxed.owl neurogenic orthostatic hypotension GARD:0012959|Orphanet:182058 https://rarediseases.info.nih.gov/diseases/12959/primary-orthostatic-hypotension owl:Class HGNC:1076 biolink:NamedThing BMPR1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001884 biolink:NamedThing abducens nerve neoplasm A neoplasm involving a abducens nerve. tmpaxzxjjyw_mondo_relaxed.owl sixth cranial nerve tumor|VIth cranial nerve tumors|sixth cranial nerve tumors|neoplasm of the abducens nerve|sixth cranial nerve neoplasm|tumor of the sixth cranial nerve|tumor of abducens nerve|VIth cranial nerve neoplasms|abducens nerve neoplasms|tumor of the abducens nerve|neoplasm of the sixth cranial nerve|abducens nerve neoplasm (disease)|abducens nerve tumors|tumor of sixth cranial nerve|neoplasm of abducens nerve|abducens nerve tumor|neoplasm of sixth cranial nerve|sixth cranial nerve neoplasms DOID:14125|ICD9:239.7|NCIT:C5826|UMLS:C1263898|SCTID:126972009 owl:Class MONDO:0020594 biolink:NamedThing abducens nerve disorder A non-neoplastic or neoplastic disorder affecting the abducens nerve (sixth cranial nerve). tmpaxzxjjyw_mondo_relaxed.owl abducens nerve disease|disorder of abducens nerve|disease or disorder of abducens nerve|abducens nerve disorder|VIth nerve disorder|abducens nerve disease or disorder|disease of abducens nerve SCTID:398925009|NCIT:C27593 owl:Class GO:0014848 biolink:NamedThing urinary tract smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. This process occurs in the urinary tract. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. The urinary tract consists of organs of the body that produce and discharge urine. These include the kidneys, ureters, bladder, and urethra. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006939 biolink:NamedThing smooth muscle contraction A process in which force is generated within smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Smooth muscle differs from striated muscle in the much higher actin/myosin ratio, the absence of conspicuous sarcomeres and the ability to contract to a much smaller fraction of its resting length. tmpaxzxjjyw_mondo_relaxed.owl visceral muscle contraction owl:Class MONDO:0004248 biolink:NamedThing pediatric infratentorial ependymoma An ependymoma that arises from the infratentorial region of the brain and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl infratentorial ependymoma|pediatric infratentorial ependymoma|childhood infratentorial ependymoma DOID:7501|NCIT:C9041|UMLS:C0278599 owl:Class MONDO:0022909 biolink:NamedThing cutis laxa osteoporosis tmpaxzxjjyw_mondo_relaxed.owl GARD:0001637 https://rarediseases.info.nih.gov/diseases/1637/cutis-laxa-osteoporosis owl:Class IAO:0000078 biolink:NamedThing curation status specification The curation status of the term. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. tmpaxzxjjyw_mondo_relaxed.owl GROUP:OBI:|OBI_0000266 Better to represent curation as a process with parts and then relate labels to that process (in IAO meeting) curation status specification PERSON:Bill Bug owl:Class IAO:0000102 biolink:NamedThing data about an ontology part Data about an ontology part is a data item about a part of an ontology, for example a term|data about an ontology part is a data item about a part of an ontology, for example a term tmpaxzxjjyw_mondo_relaxed.owl data about an ontology part Person:Alan Ruttenberg|Person:Alan Ruttenberg owl:Class UBERON:0003604 biolink:NamedThing trachea cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000997 biolink:NamedThing mammalian vulva tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006792 biolink:NamedThing hyperglobulinemic purpura Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually gamma-globulins. This syndrome often occurs on the legs of women aged 20 to 40 years. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000972|UMLS:C0034151|SCTID:402852007|DOID:3325|MESH:D011694 owl:Class CHEBI:32784 biolink:NamedThing tyrosinate(1-) An alpha-amino-acid anion that is the conjugate base of tyrosine, arising from deprotonation of the carboxy group. tmpaxzxjjyw_mondo_relaxed.owl tyrosine anion|tyrosinate(1-)|hydrogen tyrosinate|2-amino-3-(4-hydroxyphenyl)propanoate owl:Class CHEBI:33558 biolink:NamedThing alpha-amino-acid anion An amino-acid anion obtained by deprotonation of any alpha-amino acid. tmpaxzxjjyw_mondo_relaxed.owl alpha-amino-acid anions|alpha-amino acid anions|alpha-amino-acid anion owl:Class MONDO:0005326 biolink:NamedThing sunburn An inflammatory reaction from ultraviolet radiation characterized by transient redness, tenderness and occasional blistering. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3395|ICD10:L55|ICD9:692.71|MESH:D013471|SCTID:403194002|EFO:0003958 owl:Class MONDO:0010698 biolink:NamedThing optic atrophy 2 Early-onset X-linked optic atrophy is a rare form of hereditary optic atrophy, seen in only 4 families to date, with an onset in early childhood, characterized by progressive loss of visual acuity, significant optic nerve pallor and occasionally additional neurological manifestations, with females being unaffected. tmpaxzxjjyw_mondo_relaxed.owl OPA2|optic atrophy, X-linked|optic atrophy, non-Leber type, with early onset|optic atrophy 2|non-Leber type optic atrophy with early-onset|optic atrophy type 2 ICD10:H47.2|UMLS:C1839576|SCTID:721200000|Orphanet:98890|GARD:0010199|OMIM:311050|DOID:0111443|MESH:C537125 owl:Class MONDO:0012202 biolink:NamedThing malaria, mild, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl malaria, mild, susceptibility to|susceptibility to mild malaria|Mals OMIM:609148 owl:Class MONDO:0021024 biolink:NamedThing malaria, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl malaria, resistance to|malaria, cerebral, resistance to|malaria, Severe, susceptibility to|malaria, Severe, resistance to|malaria, cerebral, susceptibility to|malaria, susceptibility to OMIM:611162 owl:Class HP:0002664 biolink:NamedThing Neoplasm An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). tmpaxzxjjyw_mondo_relaxed.owl Abnormal tissue mass|Oncology|Oncological abnormality|Cancer|Tumor|Neoplasia|Tumour NCIT:C3262|SNOMEDCT_US:108369006|MSH:D009369|UMLS:C0006826|UMLS:C0027651|SNOMEDCT_US:363346000 The World Health Organization (WHO) classifies neoplasms into four main groups: (i) benign neoplasm, (ii) in situ neoplasm, (iii) malignant neoplasm, and (iv) neoplasm of uncertain or unknown behavior. A malignant neoplasm is also known as cancer. HP:0006741|HP:0003008 human_phenotype owl:Class CHEBI:33465 biolink:NamedThing elemental pnictogen tmpaxzxjjyw_mondo_relaxed.owl elemental pnictogen|elemental pnictogens owl:Class CHEBI:24835 biolink:NamedThing inorganic molecular entity A molecular entity that contains no carbon. tmpaxzxjjyw_mondo_relaxed.owl anorganische Verbindungen|inorganic molecular entities|inorganic entity|inorganic compounds|inorganics owl:Class MONDO:0000351 biolink:NamedThing disorder of methionine catabolism An acquired metabolic disease that is has its basis in the disruption of methionine catabolic process. tmpaxzxjjyw_mondo_relaxed.owl hypermethioninemia|inborn error of methionine catabolic process|rare inborn error of methionine catabolic process|inborn methionine catabolic process disorder DOID:0050544|HP:0003235|SCTID:43123004|UMLS:C4048705 owl:Class UBERON:0002398 biolink:NamedThing manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017156 biolink:NamedThing pulmonary arterial hypertension associated with chronic hemolytic anemia Pulmonary arterial hypertension associated with chronic hemolytic anemia (PAH-CHA) is a form of PAH characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of chronic hemolytic anemia. tmpaxzxjjyw_mondo_relaxed.owl PAH associated with chronic hemolytic anemia 2022-03-01 ICD9:416.8|SCTID:697908003|UMLS:C3698315|EFO:0009195|ICD10:I27.2|Orphanet:275828 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class NCBITaxon:10090 biolink:NamedThing Mus musculus tmpaxzxjjyw_mondo_relaxed.owl mouse|house mouse GC_ID:1 NCBITaxon:85055 ncbi_taxonomy owl:Class NCBITaxon:862507 biolink:NamedThing Mus tmpaxzxjjyw_mondo_relaxed.owl Mus GC_ID:1 ncbi_taxonomy owl:Class HP:0000008 biolink:NamedThing Abnormal morphology of female internal genitalia An abnormality of the female internal genitalia. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of female internal genitalia UMLS:C4025900 human_phenotype owl:Class HP:0010460 biolink:NamedThing Abnormality of the female genitalia Abnormality of the female genital system. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023820 Abnormality of the female internal or external genitalia. peter 2009-09-15T08:32:09Z human_phenotype owl:Class MONDO:0006455 biolink:NamedThing thymic undifferentiated carcinoma A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features. tmpaxzxjjyw_mondo_relaxed.owl thymic undifferentiated carcinoma EFO:1000580|NCIT:C35718|UMLS:C1336865 owl:Class MONDO:0005617 biolink:NamedThing undifferentiated carcinoma A usually aggressive malignant epithelial neoplasm composed of atypical cells which do not display evidence of glandular, squamous, or transitional cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl undifferentiated carcinoma|anaplastic carcinoma|carcinoma, undifferentiated|carcinoma, undifferentiated, malignant ICDO:8021/3|EFO:0006772|ICDO:8020/3|UMLS:C0205698|NCIT:C3692 owl:Class MONDO:0033013 biolink:NamedThing erythrokeratodermia variabilis et progressiva 3 tmpaxzxjjyw_mondo_relaxed.owl EKVP3|erythrokeratodermia variabilis ET progressiva 3 UMLS:C4479619|OMIM:617525|DOID:0080249|Orphanet:317 owl:Class MONDO:0010124 biolink:NamedThing thumb, distal hyperextensibility of tmpaxzxjjyw_mondo_relaxed.owl thumb, distal hyperextensibility of OMIM:274200 owl:Class MONDO:0012269 biolink:NamedThing chromosome 3q29 microdeletion syndrome 3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. tmpaxzxjjyw_mondo_relaxed.owl 3q subtelomere deletion syndrome|monosomy 3q29|Del(3)(q29)|microdeletion 3Q29 syndrome|3qter deletion|3q29 microdeletion syndrome|3q29 deletion syndrome|chromosome 3q29 deletion syndrome|3q29 deletion|monosomy 3qter GARD:0011974|SCTID:716456000|UMLS:C2674949|OMIM:609425|DOID:0060419|ICD10:Q93.5|MESH:C567184|Orphanet:65286 owl:Class MONDO:0016902 biolink:NamedThing partial deletion of the long arm of chromosome 3 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 3q|partial monosomy of the long arm of chromosome 3|partial deletion of chromosome 3q|partial deletion of the long arm of chromosome type 3 ICD10:Q93.5|Orphanet:262019 owl:Class ECTO:4000036 biolink:NamedThing exposure to decreased air pressure A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of air. tmpaxzxjjyw_mondo_relaxed.owl exposure to decreased amount in pressure of air owl:Class ECTO:4000000 biolink:NamedThing exposure to change A exposure event involving the interaction of an exposure receptor to deviation (from_normal) of quality. tmpaxzxjjyw_mondo_relaxed.owl exposure to deviation (from_normal) in quality owl:Class MONDO:0018975 biolink:NamedThing neurofibromatosis type 1 Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas. tmpaxzxjjyw_mondo_relaxed.owl NF1|type 1 neurofibromatosis|neurofibromatosis type 1 microdeletion syndrome|von Reklinghausen disease|neurofibromatosis, type I|neurofibromatosis|neurofibromatosis 1|Recklinghausen's disease|neurofibromatosis, peripheral type|neurofibromatosis type 1|peripheral neurofibromatosis|neurofibromatosis, type 1|Von Recklinghausen disease GARD:0007866|OMIM:613675|OMIM:162210|ICD10:Q85.0|DOID:0111253|MESH:C538607|Orphanet:363700|ICD9:237.71|SCTID:92824003|Orphanet:636|UMLS:C0027831|MESH:D009456|NCIT:C3273|OMIM:162200|MedDRA:10047712 owl:Class NCBITaxon:116706 biolink:NamedThing Heterotremata tmpaxzxjjyw_mondo_relaxed.owl Brachyrhyncha GC_ID:1 NCBITaxon:6773|NCBITaxon:6803|NCBITaxon:29963 ncbi_taxonomy owl:Class NCBITaxon:116704 biolink:NamedThing Eubrachyura tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:6795 ncbi_taxonomy owl:Class MONDO:0000004 biolink:NamedThing adrenocortical insufficiency An endocrine or hormonal disorder that occurs when the adrenal cortex does not produce enough of the hormone cortisol and in some cases, the hormone aldosterone. It may be due to a disorder of the adrenal cortex (Addison's disease or primary adrenal insufficiency) or to inadequate secretion of ACTH by the pituitary gland (secondary adrenal insufficiency). tmpaxzxjjyw_mondo_relaxed.owl adrenocortical insufficiency|adrenal insufficiency|adrenal cortical hypofunction|adrenal cortical insufficiency|hypocortisolism|adrenal gland insufficiency|corticoadrenal insufficiency|hypocortisolemia ICD9:255.4|GARD:0006722|MESH:D000309|ICD9:255.41|SCTID:386584007|NCIT:C26691|UMLS:C0405580|DOID:10493 hypoadrenalism owl:Class MONDO:0002055 biolink:NamedThing benign eccrine breast spiradenoma A very rare, benign sweat gland neoplasm that affects the breast. It is characterized by the proliferation of basaloid epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl benign breast eccrine spiradenoma|benign eccrine spiradenoma of breast|benign eccrine breast spiradenoma|benign eccrine spiradenoma of the breast NCIT:C5193|UMLS:C1332492|DOID:1616 owl:Class MONDO:0003448 biolink:NamedThing benign spiradenoma A benign epithelial neoplasm with eccrine or apocrine differentiation, arising from the sweat glands. It usually presents as a solitary, well circumscribed, firm nodule in the face and upper trunk. It is characterized by the presence of basaloid cells forming nodules in the dermis. Cases of carcinoma arising from long standing spiradenomas have been reported. tmpaxzxjjyw_mondo_relaxed.owl eccrine spiradenoma of skin|eccrine spiradenoma|spiroma/spiradenoma|eccrine spiradenoma (morphologic abnormality)|benign eccrine spiradenoma|spiradenoma ONCOTREE:SPIR|UMLS:C0334347|ICDO:8403/0|SCTID:403938001|DOID:5444|NCIT:C4170|GARD:0008649 Spiradenomas are usually benign. Malignant forms are rare. owl:Class MONDO:0024292 biolink:NamedThing gastrointestinal polyp A polypoid tumor that arises from any part of the gastrointestinal tract and protrudes into the lumen. Representative examples include adenomatous polyps, hyperplastic polyps, and hamartomatous polyps. tmpaxzxjjyw_mondo_relaxed.owl gastrointestinal tract polyp|gastrointestinal polyp|GI polyp NCIT:C35516|UMLS:C0744333 owl:Class MONDO:0004335 biolink:NamedThing digestive system disorder A disease or disorder that involves the digestive system. tmpaxzxjjyw_mondo_relaxed.owl digestive system disorder|stomach or intestinal disorder|gastroenteropathy|disorder of digestive system|gastrointestinal disease|disease of digestive system|gastrointestinal system disorder|gastroenterological system disease|gastrointestinal system disease|digestive system disease|alimentary system disease|disease or disorder of digestive system|gastroenterological system disorder|gastrointestinal disorder|digestive disease|digestive system disease or disorder|git disease ICD9:520-579.99|SCTID:53619000|NCIT:C2990|ICD10:K92.9|ICD9:V47.3|EFO:0000405|MESH:D005767|DOID:77 owl:Class PATO:0001481 biolink:NamedThing sloped A shape quality inhering in a bearer by virtue of the bearer's having an oblique or slanted direction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015820 biolink:NamedThing primary cutaneous B-cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:178563|ICD9:202.80|UMLS:C1274310|SCTID:402881008 owl:Class MONDO:0004561 biolink:NamedThing retinal melanoma A melanoma affecting the retinal portion of the eye. --2003 tmpaxzxjjyw_mondo_relaxed.owl retina melanoma (disease)|malignant melanoma of retina|malignant melanoma of the retina|retina melanoma|melanoma of the retina|melanoma (disease) of retina|retinal melanoma|melanoma of retina|malignant retinal melanoma DOID:8427|UMLS:C0853394|SCTID:423673009|NCIT:C8601 owl:Class MONDO:0006325 biolink:NamedThing ocular melanoma A melanoma that arises from the structures of the eye or ocular adnexa. tmpaxzxjjyw_mondo_relaxed.owl melanoma of the eye|ocular melanoma|eyeball of camera-type eye melanoma (disease)|eyeball of camera-type eye melanoma|OM|eye melanoma|melanoma (disease) of eyeball of camera-type eye|melanoma of eye|eye melanoma (disease) ONCOTREE:OM|GARD:0007236|EFO:1000403|DOID:1752|NCIT:C8562 owl:Class MONDO:0014647 biolink:NamedThing developmental and epileptic encephalopathy, 50 tmpaxzxjjyw_mondo_relaxed.owl CDG1Z|epileptic encephalopathy, early infantile, 50|carbohydrate deficient glycoprotein syndrome type Iz|congenital disorder of glycosylation, type Iz|CDG-Iz|CDG syndrome type Iz|CAD-CDG|congenital disorder of glycosylation, type Iz, formerly|DEE50|EIEE50|congenital disorder of glycosylation type 1z OMIM:616457|ICD10:E77.8|Orphanet:448010|DOID:0080419|UMLS:C4225320 owl:Class MONDO:0019238 biolink:NamedThing inborn disorder of pyrimidine metabolism ANPM tmpaxzxjjyw_mondo_relaxed.owl disorder of pyrimidine metabolism|inborn error of pyrimidine nucleobase metabolic process|pyrimidine metabolic disorder|inborn pyrimidine nucleobase metabolic process disorder|rare inborn error of pyrimidine nucleobase metabolic process Orphanet:79193|DOID:0050832|MedDRA:10070969 owl:Class HGNC:1391 biolink:NamedThing CACNA1D tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0600003 biolink:NamedThing bacterial hemorrhagic fever A hemorrhagic fever caused by bacteria. Bacterial hemorrhagic disease is rare. One example of a bacterial hemorrhagic disease is scrub typhus. tmpaxzxjjyw_mondo_relaxed.owl haemorrhagic fever, bacterial|bacterial haemorrhagic fever owl:Class MONDO:0600002 biolink:NamedThing hemorrhagic fever An infectious disease caused by certain viruses or bacteria that can damage the walls of tiny blood vessels, making them leak, and can hamper the blood's ability to clot and cause severe, life-threatening illness. tmpaxzxjjyw_mondo_relaxed.owl haemorrhagic fever NCIT:C36169 http://orcid.org/0000-0002-5460-8025 owl:Class UBERON:0002506 biolink:NamedThing iris epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015808 biolink:NamedThing eye epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016317 biolink:NamedThing limbic encephalitis with NMDA receptor antibodies Limbic encephalitis with anti-N-methyl-D-aspartate (NMDA) receptor antibodies is a recently described type of encephalitis affecting young women with teratoma of ovary and associated with antibodies that react with neuronal cell surface auto-antigens. tmpaxzxjjyw_mondo_relaxed.owl limbic encephalitis with N-methyl-D-aspartate receptor antibodies ICD10:G13.1|SCTID:716684004|UMLS:CN201135|Orphanet:217253|UMLS:C4274344 owl:Class MONDO:0015594 biolink:NamedThing non-paraneoplastic limbic encephalitis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:163918 owl:Class UBERON:0003549 biolink:NamedThing brain pia mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017301 biolink:NamedThing pericardial and diaphragmatic defect Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:2847 owl:Class OBO:CHR_9606-chr14q32 biolink:NamedThing 14q32 (Human) tmpaxzxjjyw_mondo_relaxed.owl 107043718 89300000 hg38 owl:Class GO:0051130 biolink:NamedThing positive regulation of cellular component organization Any process that activates or increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell structures, including the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpaxzxjjyw_mondo_relaxed.owl activation of cell organization|positive regulation of cell organisation|stimulation of cell organization|upregulation of cell organization|up regulation of cell organization|positive regulation of cellular component organization and biogenesis|up-regulation of cell organization owl:Class UBERON:0000122 biolink:NamedThing neuron projection bundle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0045010 biolink:NamedThing glycoprotein metabolism disease A disease that has its basis in the disruption of glycoprotein metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of glycoprotein metabolic process|glycoprotein metabolic process disease|disorder of glycoprotein metabolism|glycoprotein metabolism disease SCTID:238045003|UMLS:C0342844 Examples: alpha-n-acetylgalactosaminidase deficiency (disorder), carbohydrate-deficient glycoprotein syndrome (disorder), alpha-1-antitrypsin deficiency (disorder), alpha-2-antitrypsin deficiency (disorder), sialidosis (disorder), aspartylglucosaminuria (disorder), fucosidosis (disorder), mannosidosis (disorder), i-cell disease (disorder), glycoprotein storage disorder (disorder) owl:Class MONDO:0030706 biolink:NamedThing Trichomonas cystitis An cystitis caused by infection with Trichomonas vaginalis. tmpaxzxjjyw_mondo_relaxed.owl Trichomonas vaginalis cystitis|Trichomonas vaginalis caused cystitis|trichomonal cystitis|cystitis in trichomoniasis|Trichomonas cystitis SCTID:197850006|UMLS:C0341733|ICD9:131.09|NCIT:C35405 owl:Class MONDO:0011279 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 17 An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S2453 and D7S525 in the chromosome region 7q31. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 17|DFNB17|autosomal recessive deafness 17|autosomal recessive nonsyndromic deafness 17|deafness, autosomal recessive 17 OMIM:603010|ICD10:H90.3|UMLS:C1864276|DOID:0110472|MESH:C566418 owl:Class UBERON:0004822 biolink:NamedThing extrahepatic bile duct epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004820 biolink:NamedThing bile duct epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901374 biolink:NamedThing acetate ester transport The directed movement of an acetate ester into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034969 biolink:NamedThing epithelial layer of duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0041086 biolink:NamedThing mixed anxiety and depressive disorder tmpaxzxjjyw_mondo_relaxed.owl mixed anxiety and depressive disorder|anxiety depression SCTID:231504006 owl:Class CL:0005020 biolink:NamedThing lymphangioblast Lymphatic progenitor cells. tmpaxzxjjyw_mondo_relaxed.owl Usually express Prox1, or prox1b. Ceri 2012-01-12T04:44:34Z cell owl:Class UBERON:2001364 biolink:NamedThing hemal spine tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007690 biolink:NamedThing aromatase excess syndrome Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all. tmpaxzxjjyw_mondo_relaxed.owl aromatase excess syndrome|familial hyperestrogenism|increased aromatase activity|AEXS|gynecomastia, hereditary|aromatase activity, increased|gynecomastia, familial, due to increased aromatase activity|hereditary prepubertal gynecomastia SCTID:709075008|UMLS:C1970109|OMIM:139300|MESH:C000591739|GARD:0012494|Orphanet:178345|DOID:0090122|GARD:12949|ICD10:E30.1|ICD9:259.8 https://rarediseases.info.nih.gov/diseases/12494/aromatase-excess-syndrome owl:Class MONDO:0008418 biolink:NamedThing scleroderma, familial progressive tmpaxzxjjyw_mondo_relaxed.owl Crest syndrome|systemic sclerosis, susceptibility to|scleroderma, familial progressive UMLS:C1866983|OMIM:181750|Orphanet:90291|Orphanet:90290|UMLS:C0206138 owl:Class MONDO:0002834 biolink:NamedThing primary prostate urothelial carcinoma An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra. tmpaxzxjjyw_mondo_relaxed.owl prostate gland transitional cell carcinoma|prostate transitional cell carcinoma|transitional cell carcinoma of prostate|primary prostate urothelial carcinoma|primary prostate urothelial cancer|prostate urothelial carcinoma|transitional cell carcinoma of the prostate DOID:4011|NCIT:C39898|UMLS:C1514430 owl:Class MONDO:0019301 biolink:NamedThing metabolic disease with skin involvement tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:79387|UMLS:CN205935 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0002798 biolink:NamedThing childhood central nervous system primitive neuroectodermal neoplasm A central nervous system embryonal tumor, not otherwise specified that occurs in childhood. tmpaxzxjjyw_mondo_relaxed.owl Central nervous system embryonal tumor, NOS|pediatric CNS PNET|childhood CNS primitive neuroectodermal neoplasm|childhood central nervous system primitive neuroectodermal tumor|childhood central primitive neuroectodermal neoplasm|childhood CNS PNET|childhood CNS primitive neuroectodermal tumor|pediatric central nervous system primitive neuroectodermal neoplasm|pediatric CNS primitive neuroectodermal tumor|childhood central nervous system PNET|pediatric central primitive neuroectodermal tumor|pediatric central nervous system primitive neuroectodermal tumor|childhood central primitive neuroectodermal tumor|central nervous system primitive neuroectodermal neoplasm of childhood|pediatric central primitive neuroectodermal neoplasm|childhood central nervous system primitive neuroectodermal neoplasm|pediatric CNS primitive neuroectodermal neoplasm NCIT:C5961|DOID:3870|UMLS:C1332957 owl:Class MONDO:0018856 biolink:NamedThing lichen amyloidosis Lichen amyloidosis is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by the development of pruritic, often pigmented, hyperkeratotic papules on trunk and extremities, especially on the shins, and histologically by the deposition of amyloid or amyloid-like proteins in the papillary dermis. tmpaxzxjjyw_mondo_relaxed.owl amyloid lichen|lichen amyloidosus Orphanet:49804|ICD10:L99.0*|SCTID:718105008|ICD10:E85.4+ owl:Class MONDO:0020336 biolink:NamedThing autosomal dominant Emery-Dreifuss muscular dystrophy Autosomal dominant form of Emery-Dreifuss muscular dystrophy. tmpaxzxjjyw_mondo_relaxed.owl EDMD2|autosomal dominant Emery-Dreifuss muscular dystrophy|Emery-Dreifuss muscular dystrophy, autosomal dominant OMIM:181350|OMIM:612999|GARD:0002101|OMIM:614302|ICD10:G71.0|Orphanet:98853|UMLS:C0410190|OMIM:612998 owl:Class GO:0072348 biolink:NamedThing sulfur compound transport The directed movement of compounds that contain sulfur, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl sulfur-containing compound transport owl:Class GO:0061138 biolink:NamedThing morphogenesis of a branching epithelium The process in which the anatomical structures of a branched epithelium are generated and organized. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004473 biolink:NamedThing epiglottis cancer A malignant neoplasm that affects the epiglottis. The vast majority of cases are squamous cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl malignant epiglottic tumor|malignant neoplasm of anterior surface of epiglottis|malignant Epiglottis tumor|malignant tumor of Epiglottis|malignant Epiglottis neoplasm|cancer of epiglottis|malignant neoplasm of anterior aspect of epiglottis|malignant neoplasm of epiglottis|malignant neoplasm of the Epiglottis|epiglottis cancer|malignant tumor of the Epiglottis|epiglottic throat cancer|malignant neoplasm of anterior epiglottis|epiglottic cancer|malignant neoplasm of Epiglottis|epiglottic carcinoma|malignant epiglottis neoplasm|malignant epiglottic neoplasm NCIT:C4836|ICD10:C10.1|DOID:8133|SCTID:187681002|ICD9:146.4|NCIT:C35697 owl:Class MONDO:0004109 biolink:NamedThing epiglottis neoplasm A benign or malignant neoplasm that affects the epiglottis. tmpaxzxjjyw_mondo_relaxed.owl Epiglottis tumor|neoplasm of Epiglottis|tumor of the Epiglottis|tumor of Epiglottis|neoplasm of epiglottis|epiglottic neoplasm|epiglottis neoplasm (disease)|epiglottic tumor|epiglottis tumor|neoplasm of the Epiglottis|tumor of epiglottis NCIT:C4933|DOID:7105|UMLS:C1290353|SCTID:126699008 MONDO:0021347 owl:Class MONDO:0004360 biolink:NamedThing breast extraskeletal osteosarcoma An osteosarcoma arising from the breast tissue. tmpaxzxjjyw_mondo_relaxed.owl osteogenic sarcoma of the breast|osteosarcoma of the breast|breast osteosarcoma (disease)|osteogenic breast sarcoma|osteogenic sarcoma of breast|breast extraskeletal osteosarcoma|breast osteosarcoma|osteosarcoma of breast NCIT:C5189|DOID:7787|UMLS:C1335149 owl:Class HGNC:30696 biolink:NamedThing WDR36 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017042 biolink:NamedThing thanatophoric dysplasia Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape. tmpaxzxjjyw_mondo_relaxed.owl thanatophoric dwarfism|Td|dwarfism thanatophoric Orphanet:93274|SCTID:29352008|OMIM:187600|OMIM:156830|ICD9:259.4|GARD:0000085|Orphanet:2655|MESH:D013796|Orphanet:1860|Orphanet:93275|MedDRA:10049808|NCIT:C85187|DOID:13481|OMIM:273680|OMIM:187601|ICD10:Q77.1|UMLS:C0039743 owl:Class UBERON:0003343 biolink:NamedThing mucosa of oral region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003729 biolink:NamedThing mouth mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012003 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 39 An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive deafness 39|autosomal recessive nonsyndromic deafness 39|HGF autosomal recessive nonsyndromic deafness|DFNB39|deafness, autosomal recessive type 39|autosomal recessive nonsyndromic deafness caused by mutation in HGF|deafness, autosomal recessive 39|autosomal recessive nonsyndromic deafness type 39 Orphanet:90636|ICD10:H90.3|DOID:0110497|OMIM:608265|NCIT:C129874|UMLS:C1842342|MESH:C564265 owl:Class MONDO:0002900 biolink:NamedThing cerebral neuroblastoma A neuroblastoma arising from the cerebral hemispheres. tmpaxzxjjyw_mondo_relaxed.owl cerebral hemispheric neuroblastoma|neuroblastoma of telencephalon|central nervous system neuroblastoma|telencephalon neuroblastoma|neuroblastoma of the cerebral hemisphere|neuroblastoma of cerebrum|neuroblastoma of cerebral hemispheres|neuroblastoma of the cerebrum|cerebral neuroblastoma, PNET|neuroblastoma of the cerebral hemispheres|neuroblastoma of brain|cerebral neuroblastoma NCIT:C4826|UMLS:C0559458|DOID:4164|SCTID:281560004 owl:Class ENVO:01001483 biolink:NamedThing surface of an astronomical body A surface layer where the solid or liquid material of an astronomical body comes into contact with an atmosphere or outer space. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00010504 biolink:NamedThing surface layer A layer of some material entity which is adjacent to one or more of its external boundaries and directly interacts with its immediate surroundings. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017623 biolink:NamedThing PTEN hamartoma tumor syndrome A group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome belong to PHTS. tmpaxzxjjyw_mondo_relaxed.owl PHTS|PTEN hamartoma tumor syndrome SCTID:722859001|GARD:0012800|UMLS:C1959582|DOID:0080191|Orphanet:306498 https://rarediseases.info.nih.gov/diseases/12800/pten-hamartoma-tumor-syndrome owl:Class MONDO:0014956 biolink:NamedThing Chitayat syndrome tmpaxzxjjyw_mondo_relaxed.owl Chitayat syndrome|Chitayat syndrome; CHYTS|CHYTS OMIM:617180|UMLS:C4310679 owl:Class HGNC:1228 biolink:NamedThing SERPING1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000325 biolink:NamedThing stuff accumulating cell A cell that is specialised to accumulate a particular substance(s). tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0100108 biolink:NamedThing TPM3-related myopathy TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant TPM3-related myopathy|congenital myopathy related to TPM3|TPM3 myopathy|TPM3-related myopathy The most penetrant phenotype among all of the TPM3-related myopathy disease entities is muscular weakness. While nemaline myopathy is the most common presentation, several other myopathies have been reported in association with TPM3 mutations. The absence of clearly defined and/or distinct differences in molecular mechanism, coupled with noted phenotypic variability (both intra- and inter-familial) for individual variants, indicates that these entities are part of the same clinical spectrum. https://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011964 biolink:NamedThing DPAGT1-CDG DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3). tmpaxzxjjyw_mondo_relaxed.owl dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation type Ij|carbohydrate deficient glycoprotein syndrome type Ij|DPAGT1-CDG (CDG-Ij)|CDGIj|congenital disorder of glycosylation type 1j|CDG Ij|CDG 1J|congenital disorder of glycosylation, type Ij|CDG-Ij|CDG1J|CDG syndrome type Ij DOID:0080562|Orphanet:86309|OMIM:608093|GARD:0009837|UMLS:C2931004|SCTID:725079003|MESH:C535748|ICD10:E77.8|NCIT:C126874 owl:Class UBERON:0007811 biolink:NamedThing craniocervical region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015289 biolink:NamedThing infectious epithelial keratitis Infectious epithelial keratitis is a rare, potentially sight-threatening, acquired ocular disease chracterized by corneal epithelium inflammation resulting from viral (mainly Herpes Simplex virus), bacterial, fungic or protist infection, manifesting with variable symptoms, such as conjunctival hyperemia, lacrimation, rapid onset of pain, blurred vision and/or photophobia, depending on the causative agent. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:137593 owl:Class HGNC:2214 biolink:NamedThing COL7A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007325 biolink:NamedThing choreoathetosis, familial inverted tmpaxzxjjyw_mondo_relaxed.owl infantile choreoathetosis of Fisher|choreoathetosis, familial inverted UMLS:C1861569|MESH:C566127|OMIM:118750 owl:Class MONDO:0001595 biolink:NamedThing choreatic disease A neurological condition affecting the involuntary movements. It is characterized by brief, non-repetitive irregular muscle contractions. It is seen in patients with Huntington's disease. tmpaxzxjjyw_mondo_relaxed.owl benign familial chorea|hereditary progressive chorea without dementia|hereditary chorea|Bch|hereditary benign chorea|BHC|chorea, benign hereditary SCTID:230298007|MESH:D002819|HP:0002072|EFO:0004152|SCTID:230306001|ICD9:333.5|NCIT:C84633|UMLS:C1859098|OMIM:118700|Orphanet:1429|OMIM:215450|DOID:12859|ICD10:G25.5 owl:Class CL:0002107 biolink:NamedThing IgD-negative CD38-positive IgG memory B cell An IgD-negative CD38-positive IgG memory B cell is a CD38-positive IgG-positive that has class switched and lacks expression of IgD on the cell surface with the phenotype IgD-negative, CD38-positive, and IgG-positive. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0001053 biolink:NamedThing IgD-negative memory B cell A memory B cell that lacks expression of surface IgD. tmpaxzxjjyw_mondo_relaxed.owl IgD- memory B cell This cell type is compatible with the HIPC Lyoplate markers for 'IgD- memory B cell'. The majority of these cells are class-switched, though some are IgM-positive. cell owl:Class MONDO:0002949 biolink:NamedThing morpheaform basal cell carcinoma A histologic variant of basal cell carcinoma of the skin characterized by the presence of strands and nests of malignant cells that are embedded in a dense fibrotic stroma. tmpaxzxjjyw_mondo_relaxed.owl morphea-type basal cell carcinoma|sclerosing type basal cell carcinoma|morpheaform basal cell carcinoma|morphea-type (sclerosing) basal cell carcinoma|basal cell carcinoma sclerosing type|skin morphea-type (sclerosing) basal cell carcinoma|cicatricial basal-cell carcinoma|basal cell carcinoma, morphea DOID:4292|SCTID:403913006|UMLS:C0555191|NCIT:C27182 owl:Class GO:0043255 biolink:NamedThing regulation of carbohydrate biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of carbohydrates. tmpaxzxjjyw_mondo_relaxed.owl regulation of carbohydrate formation|regulation of carbohydrate biosynthesis|regulation of carbohydrate anabolism|regulation of carbohydrate synthesis owl:Class ENVO:01000420 biolink:NamedThing building part A building part is a construction which is part of a building. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00000070 biolink:NamedThing human construction A construction that has been assembled by deliberate human effort. tmpaxzxjjyw_mondo_relaxed.owl constructed feature owl:Class HGNC:20134 biolink:NamedThing GLRX5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018614 biolink:NamedThing undetermined early-onset epileptic encephalopathy A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities. tmpaxzxjjyw_mondo_relaxed.owl undetermined EOEE|undetermined early-onset epileptic encephalopathy Orphanet:442835|OMIM:617132|OMIM:616366|OMIM:617105|OMIM:617162|OMIM:614558|OMIM:617166|OMIM:615871|ICD10:G40.4|OMIM:615833|OMIM:616346|OMIM:615905|OMIM:616056|OMIM:616409|OMIM:617106|OMIM:616211|OMIM:616339|OMIM:617153 owl:Class HGNC:866 biolink:NamedThing ATP6V0A4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012323 biolink:NamedThing lethal acantholytic epidermolysis bullosa Lethal acantholytic epidermolysis bullosa is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized oozing erosions, usually in the absence of blisters. tmpaxzxjjyw_mondo_relaxed.owl lethal acantholytic epidermolysis bullosa|EBLA|epidermolysis bullosa, lethal acantholytic|LAEB UMLS:C1864826|OMIM:609638|GARD:0009910|ICD10:Q81.0|Orphanet:158687|MESH:C535493 https://rarediseases.info.nih.gov/diseases/9910/epidermolysis-bullosa-lethal-acantholytic owl:Class MONDO:0015550 biolink:NamedThing suprabasal epidermolysis bullosa simplex A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes. tmpaxzxjjyw_mondo_relaxed.owl epidermis suprabasal layer epidermolysis bullosa simplex|epidermolysis bullosa simplex of epidermis suprabasal layer ICD10:Q81.0|SCTID:724840004|Orphanet:158661|UMLS:C4511300 owl:Class MONDO:0044700 biolink:NamedThing SIN3A-related intellectual disability syndrome due to a point mutation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:500166 owl:Class MONDO:0003816 biolink:NamedThing articular cartilage disorder A disease involving the articular cartilage of joint. tmpaxzxjjyw_mondo_relaxed.owl articular cartilage disorder of upper arm|articular cartilage disorder involving pelvic region and thigh|articular cartilage of joint disease or disorder|disease or disorder of articular cartilage of joint|disease of articular cartilage of joint|articular cartilage disorder involving forearm|articular cartilage disorder of shoulder region|articular cartilage disorder of hand|articular cartilage disorder involving ankle and foot|articular cartilage disorder of multiple sites|articular cartilage disorder|disorder of articular cartilage of joint|disorder of articular cartilage|articular cartilage disorder involving upper arm|articular cartilage disorder involving shoulder region|articular cartilage disorder of ankle and/or foot|articular cartilage disorder of forearm|articular cartilage of joint disease|articular cartilage disorder involving multiple sites|articular cartilage disorder involving hand|articular cartilage disorder of the pelvic region and thigh DOID:6227|SCTID:53417006|ICD9:718.00|ICD9:718.02|ICD9:718.0|UMLS:C0158073 owl:Class MONDO:0700020 biolink:NamedThing chromosome 13 disorder Chromosomal disorder in which chromosome 13 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0008673 biolink:NamedThing acrofacial dysostosis, Weyers type Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner. tmpaxzxjjyw_mondo_relaxed.owl Weyers acrodental dysostosis|acrodental dysostosis of Weyers|curry-Hall syndrome|wad|acrofacial dysostosis of Weyers|curry Hall syndrome|Weyers acrofacial dysostosis ICD9:520.8|SCTID:277807007|OMIM:193530|Orphanet:952|DOID:0111571|MESH:C536695|UMLS:C0457013|GARD:0000497|ICD10:Q75.4 owl:Class MONDO:0016704 biolink:NamedThing glial tumor of neuroepithelial tissue with unknown origin tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:251668|UMLS:CN201948 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: glioma MONDO_0021042 owl:Class UBERON:0006306 biolink:NamedThing ulna cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015003 biolink:NamedThing ulna endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0034105 biolink:NamedThing positive regulation of tissue remodeling Any process that activates or increases the frequency, rate, or extent of tissue remodeling. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0100716 biolink:NamedThing Self-injurious behavior Aggression towards oneself. tmpaxzxjjyw_mondo_relaxed.owl Self injury|Self-harm|Self-injurious behavior|Self-injurious behaviors|Autoagression|Self-injurious behaviour|Self-injurious behaviours MSH:D016728|SNOMEDCT_US:248062006|UMLS:C0085271 doelkens 2011-05-16T06:47:54Z human_phenotype owl:Class HP:0006919 biolink:NamedThing Abnormal aggressive, impulsive or violent behavior tmpaxzxjjyw_mondo_relaxed.owl Aggressive/violent behavior|Aggressive/violent behaviour|Abnormal aggressive, impulsive or violent behaviour UMLS:C4024963 human_phenotype owl:Class MONDO:0011784 biolink:NamedThing Moyamoya disease 2 Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene. tmpaxzxjjyw_mondo_relaxed.owl Moyamoya disease caused by mutation in RNF213|Moyamoya disease type 2|Moyamoya disease 2|RNF213 Moyamoya disease|MYMY2 Orphanet:2573|OMIM:607151|MESH:C536992|UMLS:C1846689 owl:Class HGNC:11111 biolink:NamedThing SMC1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904950 biolink:NamedThing negative regulation of establishment of protein localization Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization. tmpaxzxjjyw_mondo_relaxed.owl down regulation of protein positioning|down-regulation of establishment of protein localization|inhibition of protein recruitment|downregulation of establishment of protein localization|down-regulation of protein positioning|down-regulation of establishment of protein localisation|negative regulation of establishment of protein localisation|down-regulation of protein recruitment|downregulation of protein positioning|down regulation of protein recruitment|down regulation of establishment of protein localisation|down regulation of establishment of protein localization|inhibition of establishment of protein localisation|inhibition of establishment of protein localization|downregulation of establishment of protein localisation|downregulation of protein recruitment|inhibition of protein positioning|negative regulation of protein positioning|negative regulation of protein recruitment owl:Class MONDO:0031010 biolink:NamedThing odontochondrodysplasia 2 with hearing loss and diabetes tmpaxzxjjyw_mondo_relaxed.owl ODCD2 OMIM:619269 owl:Class MONDO:0031169 biolink:NamedThing odontochondrodysplasia tmpaxzxjjyw_mondo_relaxed.owl OMIM:184260|OMIMPS:184260 owl:Class NCBITaxon:33343 biolink:NamedThing Prosorrhyncha tmpaxzxjjyw_mondo_relaxed.owl bugs|Heteropterodea GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7524 biolink:NamedThing Hemiptera tmpaxzxjjyw_mondo_relaxed.owl bugs GC_ID:1|PMID:7666451 ncbi_taxonomy owl:Class UBERON:0010329 biolink:NamedThing paired limb/fin bud mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4887 biolink:NamedThing HJV tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006525 biolink:NamedThing left lung alveolar system tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1323 biolink:NamedThing C4A tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000200 biolink:NamedThing exposure to lipid An exposure to lipid. tmpaxzxjjyw_mondo_relaxed.owl exposure to lipid owl:Class MONDO:0009894 biolink:NamedThing short-rib thoracic dysplasia 6 with or without polydactyly A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia. tmpaxzxjjyw_mondo_relaxed.owl SRPS2A|polydactyly with neonatal chondrodystrophy type II|short rib-polydactyly syndrome type IIA|polydactyly with neonatal chondrodystrophy, type 2|SRTD6|short rib-polydactyly syndrome, type 2A|short rib-polydactyly syndrome type II|Srps, type 2|Majewski syndrome|short rib-polydactyly syndrome, type 2|short-rib thoracic dysplasia 6 with or without polydactyly|polydactyly with neonatal chondrodystrophy, type II OMIM:263520|Orphanet:93269|NCIT:C122654|ICD10:Q77.2|DOID:0110092 owl:Class MONDO:0019662 biolink:NamedThing short rib-polydactyly syndrome, Majewski type tmpaxzxjjyw_mondo_relaxed.owl polydactyly with neonatal chondrodystrophy type 2|short rib-polydactyly syndrome type 2|SRPS type 2|short rib-polydactyly syndrome Majewski type ICD10:Q77.2|ICD9:756.3|OMIM:263520|Orphanet:93269|SCTID:72922008|GARD:0004833|OMIM:613091 owl:Class MONDO:0018553 biolink:NamedThing urachal diverticulum Urachal diverticulum is the rarest type of congenital urachal anomaly resulting from the failure of the distal urachus to close at its point of connectivity to the bladder that is usually asymptomatic but can be associated with recurrent urinary tract infections and other complications. tmpaxzxjjyw_mondo_relaxed.owl Vesicourachal diverticulum UMLS:CN237554|Orphanet:431347|NCIT:C123254|ICD10:Q64.4|SCTID:253899000 owl:Class MONDO:0018565 biolink:NamedThing congenital urachal anomaly Congenital urachal anomaly (CUA) describes a group of urachal remnants, found more frequently in males than females, that result from incomplete closure of the urachus (an embryological remnant of the allantois) during prenatal development, and that are usually asymptomatic (and found as an incidental finding on a radiological study) but can also present with umbilical discharge (in patent urachus or urachal sinus), infraumblical mass and pain, or with complications such as obstruction and infection. CUAs include patent urachus, urachal sinus, urachal cyst and urachal diverticulum. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:435743 owl:Class UBERON:0004377 biolink:NamedThing distal metaphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008526 biolink:NamedThing talonavicular coalition tmpaxzxjjyw_mondo_relaxed.owl talonavicular coalition OMIM:186750|MESH:C536895|GARD:0010062 https://rarediseases.info.nih.gov/diseases/10062/talonavicular-coalition owl:Class UBERON:0005283 biolink:NamedThing tela choroidea tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007377 biolink:NamedThing granular corneal dystrophy type I Type I granular corneal dystrophy (GCDI) is a rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment, which may sometimes be severe. tmpaxzxjjyw_mondo_relaxed.owl corneal dystrophy, Groenouw type I|corneal dystrophy punctate or nodular|corneal dystrophy Groenouw type I|Groenouw type I corneal dystrophy|CDGG1|GCD1|GCDI|corneal dystrophy, punctate or nodular|corneal dystrophy granular type|corneal dystrophy, Groenouw type 1|granular corneal dystrophy type 1|granular corneal dystrophy, type 1|classic GCD|classic granular corneal dystrophy DOID:0080530|OMIM:121900|MESH:C537304|UMLS:C1641846|ICD10:H18.5|Orphanet:98962|SCTID:419039007|GARD:0009677 owl:Class MONDO:0009158 biolink:NamedThing Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited connective tissue disorders characterized by variable joint hypermobility and cutaneous hyperextensibility. Type X is distinguished by platelet dysfunction associated with a fibronectin abnormality. Type X EDS has been described in only one family so far. Age of onset is about 13-25 years. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl EDS X|Ehlers-Danlos syndrome type 10|Ehlers-Danlos syndrome, fibronectin-deficient|Ehlers-Danlos syndrome, dysfibronectinemic type|FN Abnormality|Ehlers-Danlos syndrome, type 10|Ehlers-Danlos syndrome, type X (formerly)|Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality|Ehlers-Danlos syndrome type 10 (formerly)|EDS 10|EDS10 (formerly) MESH:C565600|SCTID:83586000|GARD:0008508|Orphanet:75501|OMIM:225310|ICD10:Q79.6 owl:Class MONDO:0021065 biolink:NamedThing pleural neoplasm A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura. tmpaxzxjjyw_mondo_relaxed.owl tumor of the pleura|neoplasm of the pleura|pleural cavity tumor|pleural cavity neoplasm (disease)|pleura neoplasm|neoplasm of pleura|pleural tumor|pleura tumor|neoplasm of pleural cavity|pleural neoplasm|pleura neoplasm (disease)|tumor of pleura SCTID:126719004|UMLS:C0032229|NCIT:C3332|ONCOTREE:PLEURA owl:Class UBERON:0004199 biolink:NamedThing S-shaped body tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012665 biolink:NamedThing cataract 33 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene. tmpaxzxjjyw_mondo_relaxed.owl CTRCT33|early-onset non-syndromic cataract caused by mutation in BFSP1|cataract 33, cortical|cataract 33|cataract type 33|cataract 33, multiple types|BFSP1 early-onset non-syndromic cataract|cortical cataract 33 Orphanet:217052|UMLS:C3808107|MESH:C566955|DOID:0110264|Orphanet:217046|OMIM:611391|ICD10:Q12.0 owl:Class MONDO:0005147 biolink:NamedThing type 1 diabetes mellitus A chronic condition characterized by minimal or absent production of insulin by the pancreas. tmpaxzxjjyw_mondo_relaxed.owl insulin dependent diabetes|type I diabetes mellitus|diabetes mellitis type I|diabetes mellitis type 1|IDDM|insulin-dependent diabetes mellitus|juvenile diabetes|immune mediated diabetes|type 1 diabetes|type I diabetes KEGG:04940|ICD10:E10|EFO:0001359|OMIM:610155|NCIT:C2986|OMIM:601388|Orphanet:243377|OMIM:601942|OMIM:222100|SCTID:46635009|MESH:D003922|OMIM:612522|OMIM:612520|OMIM:125852|DOID:9744 owl:Class MONDO:0025712 biolink:NamedThing angioedema, hereditary, 4 tmpaxzxjjyw_mondo_relaxed.owl HAE4 OMIM:619360 owl:Class MONDO:0008321 biolink:NamedThing pruritus, hereditary localized tmpaxzxjjyw_mondo_relaxed.owl pruritus, hereditary localized UMLS:C1867499|MESH:C566754|OMIM:177100 owl:Class HGNC:18603 biolink:NamedThing COL25A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000005 biolink:NamedThing Mode of inheritance The pattern in which a particular genetic trait or disorder is passed from one generation to the next. tmpaxzxjjyw_mondo_relaxed.owl Inheritance UMLS:C1708511 HP:0001453|HP:0001461 human_phenotype owl:Class MONDO:0008055 biolink:NamedThing myotonia congenita, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl Thomsen's disease|Thomsen and Becker disease|myotonia congenita, autosomal dominant|congenital myotonia, autosomal dominant form|myotonia Levior|Thomsen disease SCTID:57938005|Orphanet:614|OMIM:160800|ICD9:359.29 owl:Class UBERON:0011131 biolink:NamedThing intermetacarpal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014830 biolink:NamedThing platelet-type bleeding disorder 20 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant thrombocytopenia with platelet secretion defect|bleeding disorder, platelet-type, 20|SLFN14 inherited bleeding disorder, platelet-type|inherited bleeding disorder, platelet-type caused by mutation in SLFN14|BDPLT20 Orphanet:466806|OMIM:616913|DOID:0111055|UMLS:C4310797 owl:Class MONDO:0014532 biolink:NamedThing autosomal dominant mitochondrial myopathy with exercise intolerance tmpaxzxjjyw_mondo_relaxed.owl myopathy, isolated mitochondrial, autosomal dominant|IMMD OMIM:616209|ICD10:G71.3|UMLS:C4015513|Orphanet:457050 owl:Class MONDO:0019879 biolink:NamedThing distal trisomy 4q Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. tmpaxzxjjyw_mondo_relaxed.owl trisomy 4qter|distal duplication 4q|telomeric duplication 4q|distal trisomy type 4q Orphanet:96096|ICD10:Q92.3|SCTID:763273008 owl:Class UBERON:0010133 biolink:NamedThing neuroendocrine gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002642 biolink:NamedThing trochlear nerve neoplasm A neoplasm involving a trochlear nerve. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of trochlear nerve|tumor of trochlear nerve|neoplasm of fourth cranial nerve|trochlear nerve tumor|trochlear nerve neoplasms|trochlear nerve tumors|fourth cranial nerve neoplasm|tumor of fourth cranial nerve|trochlear nerve neoplasm (disease)|neoplasm of the fourth cranial nerve|neoplasm of the trochlear nerve|fourth cranial nerve tumors|tumor of the trochlear nerve|IVth cranial nerve neoplasms|fourth cranial nerve neoplasms|fourth cranial nerve tumor|tumor of the fourth cranial nerve|IVth cranial nerve tumors NCIT:C5825|SCTID:126970001|ICD9:239.7|DOID:3421|UMLS:C1263896 owl:Class MONDO:0002633 biolink:NamedThing cranial nerve neoplasm Abnormal growth of the cells that comprise the cranial nerves. tmpaxzxjjyw_mondo_relaxed.owl tumor of cranial nerve|neoplasm of the cranial nerve|cranial nerve neoplasm (disease)|tumor of the cranial nerve|cranial nerve neoplasm|neoplasm of cranial nerve|cranial nerve neoplasms|cranial nerve tumor DOID:338|ICD9:239.7|SCTID:126966009|NCIT:C2963|MESH:D003390|UMLS:C0010267 owl:Class MONDO:0006528 biolink:NamedThing bacterial exanthem A bacteria-induced exanthem tmpaxzxjjyw_mondo_relaxed.owl EFO:1000671|DOID:0050487 owl:Class MONDO:0006668 biolink:NamedThing bacterial conjunctivitis Inflammation of the conjunctiva caused by a variety of bacterial agents. tmpaxzxjjyw_mondo_relaxed.owl purulent conjunctivitis|Bacteria caused conjunctival disease|Bacteria conjunctival disease UMLS:C0009768|ICD9:372.03|ICD10:H10.0|DOID:9700|NCIT:C53656|MedDRA:10061784|MESH:D003234|EFO:1000829|SCTID:243321006 owl:Class MONDO:0011409 biolink:NamedThing hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection tmpaxzxjjyw_mondo_relaxed.owl hepatic fibrosis, Severe, susceptibility to, due to Schistosoma japonicum infection|hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection|Sm2 OMIM:604201 owl:Class MONDO:0000093 biolink:NamedThing Schistosoma mansoni infection, susceptibility tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:30417 biolink:NamedThing SH2B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002029 biolink:NamedThing chronic gonorrhea of cervix Chronic form of gonococcal cervicitis. tmpaxzxjjyw_mondo_relaxed.owl chronic gonococcal cervicitis|gonococcal cervicitis, chronic ICD9:098.35|UMLS:C0153206|SCTID:76802005|DOID:1512 owl:Class MONDO:0021157 biolink:NamedThing gonococcal cervicitis tmpaxzxjjyw_mondo_relaxed.owl gonorrhea of cervix|gonorrhea of uterine cervix SCTID:237083000|UMLS:C0812378 owl:Class MONDO:0019339 biolink:NamedThing 47,XYY syndrome 47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. tmpaxzxjjyw_mondo_relaxed.owl Y disomy|XYY syndrome|Double Y|disomy Y|47,XYY|47,XYY syndrome|XYY karyotype|Double Y syndrome|YY syndrome|47, XYY syndrome GARD:0005674|MESH:C535317|Orphanet:8|NCIT:C85237|SCTID:50749006|MedDRA:10056894|ICD10:Q98.5 https://github.com/monarch-initiative/mondo/issues/3155 owl:Class PATO:0002070 biolink:NamedThing affinity A molecular quality that arises from the molecular attraction exerted between two atoms or compounds. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016698 biolink:NamedThing ependymoma A WHO grade II, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO) tmpaxzxjjyw_mondo_relaxed.owl tanycytic ependymoma (histologic variant)|ependymoma, benign|papillary ependymoma (histologic variant)|ependymoma|epithelial ependymoma|clear cell ependymoma (histologic variant)|WHO grade II ependymal neoplasm|benign ependymoma|WHO grade II ependymal tumor|ependymoma, familial MedDRA:10014967|GARD:0006353|UMLS:C0014474|NCIT:C3017|DOID:4844|MESH:D004806|ICD10:D43.2|UMLS:CN201941|ICDO:9391/3|ONCOTREE:EPM|Orphanet:251636 owl:Class MONDO:0024422 biolink:NamedThing auditory perceptual disorders Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech. tmpaxzxjjyw_mondo_relaxed.owl processing disorders, auditory|auditory processing disorders|perceptual disorders, auditory|disorder, acoustic perceptual|comprehension disorder, auditory|disorder, auditory comprehension|Psychoacoustical disorders|acoustic perceptual disorder|disorder, auditory processing|disorders, acoustic perceptual|auditory perceptual disorder|processing disorder, auditory|acoustic perceptual disorders|disorders, auditory comprehension|disorder of sensory perception of sound|auditory inattention|Inattentions, auditory|comprehension disorders, auditory|auditory comprehension disorders|auditory Inattentions|auditory processing disorder|perceptual disorder, auditory|perceptual disorders, acoustic|auditory comprehension disorder|sensory perception of sound disease|disorders, Psychoacoustical|disorder, Psychoacoustical|Psychoacoustical disorder|disorders, auditory processing|perceptual disorder, acoustic|inattention, auditory MESH:D001308|UMLS:C0751257|SCTID:229752008|NCIT:C84575 owl:Class MONDO:0021945 biolink:NamedThing hearing disorder A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear. tmpaxzxjjyw_mondo_relaxed.owl disorder of hearing|hearing disorder|auditory alteration MESH:D006311|UMLS:C0260662|NCIT:C3078|SCTID:128540005 owl:Class MONDO:0021321 biolink:NamedThing malignant tumor of extrahepatic bile duct A cancer that involves the extrahepatic bile duct. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the extrahepatic bile duct|malignant extrahepatic bile duct neoplasm|extrahepatic bile duct cancer|malignant tumor of the extrahepatic bile duct|malignant extrahepatic bile duct tumor|malignant neoplasm of extrahepatic bile duct|cancer of extrahepatic bile duct UMLS:C0153453|SCTID:363416002|ICD9:156.8|NCIT:C7483|ICD9:156.1 owl:Class MONDO:0019929 biolink:NamedThing 49,XXXXY syndrome The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males. tmpaxzxjjyw_mondo_relaxed.owl 49,XXXXY|XXXXY syndrome SCTID:38847009|GARD:0005679|Orphanet:96264|UMLS:C0265499|ICD9:758.81|ICD10:Q98.1 https://rarediseases.info.nih.gov/diseases/5679/49xxxxy-syndrome owl:Class UBERON:0002402 biolink:NamedThing pleural cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035809 biolink:NamedThing serous cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006708 biolink:NamedThing Desulfovibrionaceae infectious disease Infections with bacteria of the family Desulfovibrionaceae. tmpaxzxjjyw_mondo_relaxed.owl infections, Bilophila|Desulfovibrionaceae infection|Bilophila infection|Lawsonia infection|Desulfovibrio infection|infection, Lawsonia|infection, Bilophila|infection, Desulfovibrio|infection, Desulfovibrionaceae|infections, Lawsonia|Desulfovibrionaceae disease or disorder|commensal Bilophila infection|infections, Desulfovibrionaceae|Lawsonia infections|Desulfovibrio infections|Desulfovibrionaceae caused disease or disorder|Bilophila infections|infections, Desulfovibrio EFO:1000875|MESH:D045824 owl:Class PATO:0015022 biolink:NamedThing increased combustibility An increase in combustibility. tmpaxzxjjyw_mondo_relaxed.owl combustible owl:Class UBERON:0019311 biolink:NamedThing root of olfactory nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016836 biolink:NamedThing 16p13.11 microdeletion syndrome 16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems. tmpaxzxjjyw_mondo_relaxed.owl monosomy 16p13.11|Del(16)(p13.11) ICD10:Q93.5|UMLS:C4304596|UMLS:CN202172|SCTID:719577000|Orphanet:261236 owl:Class NCBITaxon:4827 biolink:NamedThing Mucorales tmpaxzxjjyw_mondo_relaxed.owl pin molds PMID:17486964|PMID:12684019|GC_ID:1|PMID:17572334|PMID:17051209|PMID:14715234 ncbi_taxonomy owl:Class MONDO:0007216 biolink:NamedThing brachydactyly type A2 Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, type A2|Brachymesophalangy type 2|Brachymesophalangy 2|BDA2|brachydactyly, Mohr-Wriedt type|Mohr-Wriedt type brachydactyly|brachymesophalangy II SCTID:720569006|GARD:0000989|OMIM:112600|DOID:0110965|ICD10:Q73.8|GARD:0000979|Orphanet:93396|MESH:C537089 https://rarediseases.info.nih.gov/diseases/989/brachymesophalangy-type-2|https://rarediseases.info.nih.gov/diseases/979/brachydactyly-type-a2 owl:Class GO:0106121 biolink:NamedThing positive regulation of cobalamin metabolic process Any process that activates or increases the frequency, rate or extent of a cobalamin metabolic process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901403 biolink:NamedThing positive regulation of tetrapyrrole metabolic process Any process that activates or increases the frequency, rate or extent of tetrapyrrole metabolic process. tmpaxzxjjyw_mondo_relaxed.owl upregulation of tetrapyrrole metabolism|up-regulation of tetrapyrrole metabolism|positive regulation of tetrapyrrole metabolism|activation of tetrapyrrole metabolic process|up regulation of tetrapyrrole metabolic process|activation of tetrapyrrole metabolism|upregulation of tetrapyrrole metabolic process|up regulation of tetrapyrrole metabolism|up-regulation of tetrapyrrole metabolic process owl:Class MONDO:0001411 biolink:NamedThing synostosis A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. tmpaxzxjjyw_mondo_relaxed.owl DOID:11971|MESH:D013580 owl:Class MONDO:0018234 biolink:NamedThing dysostosis A disorder of the development of bone in which ossification is affected. tmpaxzxjjyw_mondo_relaxed.owl dysostosis UMLS:C0013393|NCIT:C34560|MESH:D004413|ICD9:756.9|DOID:1934|Orphanet:364559|SCTID:109420003 owl:Class GO:0048871 biolink:NamedThing multicellular organismal homeostasis Any process involved in the maintenance of an internal steady state at the level of the multicellular organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003379 biolink:NamedThing rectum leiomyosarcoma An aggressive malignant smooth muscle neoplasm that arises from the rectum. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of rectum|leiomyosarcoma of the rectum|rectal leiomyosarcoma|rectum leiomyosarcoma UMLS:C1335683|DOID:5297|NCIT:C5549 owl:Class MONDO:0011496 biolink:NamedThing mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk. tmpaxzxjjyw_mondo_relaxed.owl OSCDP|osteoarthritis with mild chondrodysplasia|Namaqualand hip dysplasia SCTID:254064009|ICD10:Q77.7|UMLS:C1858079|MESH:C565740|Orphanet:93279|OMIM:604864|ICD9:755.63 owl:Class UBERON:0001648 biolink:NamedThing vestibulocochlear nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020099 biolink:NamedThing inherited sideroblastic anemia tmpaxzxjjyw_mondo_relaxed.owl constitutional sideroblastic anemia Orphanet:98362|ICD10:D64.0|OMIMPS:300751 We are pretty sure Orphanet means inherited/hereditary. This was renamed from constitutional sideroblastic anemia. https://github.com/monarch-initiative/mondo/pull/2076 owl:Class CL:1000322 biolink:NamedThing pancreatic goblet cell A goblet cell that is part of the epithelium of pancreatic duct. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of epithelium of pancreatic duct FMA:263058 cell owl:Class CL:0000069 biolink:NamedThing branched duct epithelial cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0014016 biolink:NamedThing hereditary spastic paraplegia 49 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the TECPR2 gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary spastic paraplegia 49|autosomal recessive spastic paraplegia 49|spastic paraplegia 49, autosomal recessive|TECPR2 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in TECPR2|hereditary spastic paraplegia type 49|autosomal recessive spastic paraplegia type 49|SPG49 UMLS:C3542549|OMIM:615031|DOID:0110801|ICD10:G11.4|Orphanet:320385 owl:Class UBERON:0001988 biolink:NamedThing feces Portion of semisolid bodily waste discharged through the anus[MW,modified] tmpaxzxjjyw_mondo_relaxed.owl portion of dung|excreta|portion of fecal material|portion of fecal matter|spraint|portion of excrement|dung|porción de mierda@en|merde@fr|partie de la merde@fr|fecal material|fewmet|droppings|piece of shit|portion of scat|guano|portion of feces|cow dung|matières fécales@fr|excrement|ordure|teil der fäkalien@de|cow pat|spoor|scat|portionem cacas|stool|frass|portion of faeces|portion of guano|faeces|fecal matter owl:Class UBERON:0000174 biolink:NamedThing excreta A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity tmpaxzxjjyw_mondo_relaxed.owl excretion|waste substance|excreted substance|portion of excreted substance owl:Class MONDO:0012730 biolink:NamedThing aortic aneurysm, familial thoracic 6 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene. tmpaxzxjjyw_mondo_relaxed.owl aortic aneurysm, familial thoracic 6|aortic aneurysm, familial thoracic type 6|familial thoracic aortic aneurysm with livedo reticularis and iris flocculi|ACTA2 familial thoracic aortic aneurysm and aortic dissection|familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2|AAT6 UMLS:C2673186|Orphanet:91387|MESH:C567085|OMIM:611788 owl:Class MONDO:0019625 biolink:NamedThing familial thoracic aortic aneurysm and aortic dissection A rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. tmpaxzxjjyw_mondo_relaxed.owl Erdheim cystic medial necrosis of aorta|FTAAD|familial TAAD|annuloaortic ectasia|familial thoracic aortic aneurysm and dissection|familial aortic aneurysm|familial thoracic aortic aneurysm and aortic dissection|Erdheim disease|familial thoracic aortic aneurysm|cystic medial necrosis of aorta|familial aortic dissection OMIM:607087|ICD10:I71.0|OMIM:613780|GARD:0002249|OMIM:616166|GARD:0001654|OMIM:617168|SCTID:45894003|OMIM:610168|ICD9:447.9|SCTID:764965000|Orphanet:229|UMLS:C0392775|OMIMPS:607086|OMIM:609192|OMIM:615582|ICD10:Q87.4|OMIM:132900|OMIM:607086|OMIM:614816|OMIM:611788|UMLS:CN118826|Orphanet:91387|OMIM:615436 owl:Class MONDO:0018167 biolink:NamedThing primary essential cutis verticis gyrata Primary essential cutis verticis gyrata is a rare, progressive dermis disorder characterized by thickening of the scalp resulting in redundancy of the skin which gives rise to folds and grooves that give the scalp a cerebriform appearance. Folds cannot be corrected by pressure or traction and typically are symmetric and extend anteroposteriorly from vertex to occiput and/or transversely in occipital region. Additional features may include mild subungual hyperkeratosis and distal onycholysis of the nail plates of the great toes. It is not associated with neurological and ophthalmological changes, nor with secondary causes. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q82.8|Orphanet:357220|SCTID:765135003|UMLS:CN204615 owl:Class MONDO:0019033 biolink:NamedThing primary cutis verticis gyrata Cutis verticis gyrata (CVG) is a progressive cutaneous disorder predominantly affecting males and characterized by hypertrophy and thickening of the skin of the scalp forming convoluted furrows with deep, tender, and cerebriform cutaneous folds. Hair is usually normal in the furrows and sparse on the folds. CG can be isolated (essential CVG) or associated with other abnormalities such as intellectual deficit, epilepsy, cataract, blindness, and deafness (non essential CVG). tmpaxzxjjyw_mondo_relaxed.owl cutis verticis gyrata ICD10:Q82.8|SCTID:51603000|Orphanet:671|GARD:0001643|UMLS:C0263417|ICD9:757.39 https://rarediseases.info.nih.gov/diseases/1643/cutis-verticis-gyrata owl:Class MONDO:0033856 biolink:NamedThing LAMA5-related multisystemic syndrome A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:521450 https://github.com/monarch-initiative/mondo/issues/3601 owl:Class MONDO:0012962 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 2 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene. tmpaxzxjjyw_mondo_relaxed.owl MVCD2|microvascular complications of diabetes, susceptibility caused by mutation in EPO|microvascular complications of diabetes, susceptibility to, type 2|proliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, 2|end-stage renal disease, diabetic, susceptibility to|EPO microvascular complications of diabetes, susceptibility OMIM:612623 owl:Class MONDO:0000065 biolink:NamedThing microvascular complications of diabetes, susceptibility tmpaxzxjjyw_mondo_relaxed.owl microvascular complications of diabetes UMLS:CN357508|OMIMPS:603933 Editor note: relationship to diabetic angiopathy owl:Class BFO:0000004 biolink:NamedThing independent continuant b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002])|A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything.|A continuant that is a bearer of quality and realizable entity entities, in which other entities inhere and which itself cannot inhere in anything.|b is an independent continuant = Def. b is a continuant which is such that there is no c and no t such that b s-depends_on c at t. (axiom label in BFO2 Reference: [017-002]) tmpaxzxjjyw_mondo_relaxed.owl IndependentContinuant ic an orchestra.|an atom|the bottom right portion of a human torso|an organism|the interior of your mouth|a leg|a chair|a heart|a molecule|a spatial region (forall (x t) (if (and (IndependentContinuant x) (existsAt x t)) (exists (y) (and (Entity y) (specificallyDependsOnAt y x t))))) // axiom label in BFO2 CLIF: [018-002] |(forall (x t) (if (IndependentContinuant x) (exists (r) (and (SpatialRegion r) (locatedInAt x r t))))) // axiom label in BFO2 CLIF: [134-001] |(iff (IndependentContinuant a) (and (Continuant a) (not (exists (b t) (specificallyDependsOnAt a b t))))) // axiom label in BFO2 CLIF: [017-002] For any independent continuant b and any time t there is some spatial region r such that b is located_in r at t. (axiom label in BFO2 Reference: [134-001])|For every independent continuant b and time t during the region of time spanned by its life, there are entities which s-depends_on b during t. (axiom label in BFO2 Reference: [018-002]) owl:Class BFO:0000002 biolink:NamedThing continuant An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts.|An entity that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts. tmpaxzxjjyw_mondo_relaxed.owl Continuant continuant BFO 2 Reference: Continuant entities are entities which can be sliced to yield parts only along the spatial dimension, yielding for example the parts of your table which we call its legs, its top, its nails. ‘My desk stretches from the window to the door. It has spatial parts, and can be sliced (in space) in two. With respect to time, however, a thing is a continuant.’ [60, p. 240|Continuant doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example, in an expansion involving bringing in some of Ceuster's other portions of reality, questions are raised as to whether universals are continuants continuant A continuant is an entity that persists, endures, or continues to exist through time while maintaining its identity. (axiom label in BFO2 Reference: [008-002]) (forall (x y) (if (and (Continuant x) (exists (t) (continuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [009-002] |(forall (x y) (if (and (Continuant x) (exists (t) (hasContinuantPartOfAt y x t))) (Continuant y))) // axiom label in BFO2 CLIF: [126-001] |(forall (x) (if (Material Entity x) (exists (t) (and (TemporalRegion t) (existsAt x t))))) // axiom label in BFO2 CLIF: [011-002] |(forall (x) (if (Continuant x) (Entity x))) // axiom label in BFO2 CLIF: [008-002] if b is a material entity, then there is some temporal interval (referred to below as a one-dimensional temporal region) during which b exists. (axiom label in BFO2 Reference: [011-002])|if b is a continuant and if, for some t, c has_continuant_part b at t, then c is a continuant. (axiom label in BFO2 Reference: [126-001])|if b is a continuant and if, for some t, cis continuant_part of b at t, then c is a continuant. (axiom label in BFO2 Reference: [009-002]) owl:Class MONDO:0043919 biolink:NamedThing radiation pneumonitis Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation. tmpaxzxjjyw_mondo_relaxed.owl radiation pneumonia|radiation Pneumonitides|radiation Pneumonias|radiation pneumonitis|Pneumonias, radiation|Pneumonitides, radiation|pulmonary radiation alveolitis|radiation fibrosis|pneumonia, radiation|pneumonitis, radiation|fibrosis, radiation SCTID:84004001|MESH:D017564|EFO:0008517 owl:Class MONDO:0043459 biolink:NamedThing radiation-induced disorder A non-neoplastic or neoplastic disorder which results from exposure to radiation. Examples of non-neoplastic disorders include dermatitis, enteritis, stomatitis, pneumonitis, and cerebritis. Examples of neoplastic disorders include myelodysplastic syndromes, leukemias, and sarcomas. tmpaxzxjjyw_mondo_relaxed.owl radiation-induced Abnormality|abnormalities, radiation induced|radiation-induced disorder|radiation induced abnormalities|Abnormality, radiation-induced|radiation-induced abnormalities Orphanet:521132|NCIT:C26684|UMLS:C1527225|MESH:D000016|SCTID:85983004 owl:Class MONDO:0003737 biolink:NamedThing malignant testicular Leydig cell tumor A Leydig cell tumor characterized by a large size, cellular atypia, high mitotic activity, vascular invasion and necrotic changes. The prognosis is usually poor. tmpaxzxjjyw_mondo_relaxed.owl testicular Leydig cell tumor, malignant NCIT:C39942|UMLS:C1515288|DOID:6021 owl:Class MONDO:0005447 biolink:NamedThing testicular cancer A primary or metastatic malignant neoplasm that affects the testis. Representative examples include seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the testis|malignant neoplasm of testis|malignant tumor of the testis|malignant testis neoplasm|testicular tumor|testis neoplasm|malignant tumor of testis|malignant testicular tumor|cancer of testis|malignant testicular neoplasm|testis cancer DOID:2998|ICD9:186.9|GARD:0007746|ICD10:C62.9|NCIT:C3404|EFO:0005088|NCIT:C5053|SCTID:126900000|OMIM:273300|ICD9:186|SCTID:363449006|ICD10:C62.90|NCIT:C7251|ICD10:C62|MESH:D013736 owl:Class MONDO:0015718 biolink:NamedThing mosaic trisomy 12 Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. tmpaxzxjjyw_mondo_relaxed.owl Mosaic trisomy chromosome 12|Mosaic trisomy type 12|trisomy 12 mosaicism ICD10:Q92.1|UMLS:CN073989|GARD:0005304|Orphanet:1698|SCTID:764463001 owl:Class MONDO:0014386 biolink:NamedThing platelet-type bleeding disorder 18 Bleeding disorder due to CalDAG-GEFI deficiency is a rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported. tmpaxzxjjyw_mondo_relaxed.owl bleeding disorder due to CalDAG-GEFI deficiency|inherited bleeding disorder, platelet-type caused by mutation in RASGRP2|bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency|BDPLT18|bleeding disorder, platelet-type, 18|RASGRP2 inherited bleeding disorder, platelet-type|platelet-type bleeding disorder 18 OMIM:615888|DOID:0111051|UMLS:C4014584|Orphanet:420566|ICD10:D69.1 owl:Class MONDO:0008097 biolink:NamedThing linear nevus sebaceous syndrome Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement). tmpaxzxjjyw_mondo_relaxed.owl Jadassohn Nevus phakomatosis|sebaceous nevus syndrome linear|Sfm syndrome|organoid nevus phakomatosis|organoid Nevus|Nevus sebaceous of Jadassohn|Schimmelpenning Feuerstein Mims syndrome|Jadassohn nevus phakomatosis|epidermal nevus syndrome|SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome|organoid nevus syndrome|Schimmelpenning syndrome|Nevus sebaceus syndrome|Epidermal Nevus syndrome, formerly|JNP|linear sebaceous Nevus|SFM|organoid Nevus phakomatosis|Solomon syndrome|sebaceous Nevus syndrome, linear|SFM syndrome|Nevus sebaceus of Jadassohn|linear sebaceous Nevus syndrome ICD10:Q85.8|OMIM:163200|NCIT:C4678|DOID:0111530|GARD:0010291|Orphanet:2612 https://rarediseases.info.nih.gov/diseases/10291/linear-nevus-sebaceous-syndrome owl:Class MONDO:0004283 biolink:NamedThing vulvar clear cell hidradenocarcinoma A vulvar sweat gland carcinoma characterized by the presence of clear cells. tmpaxzxjjyw_mondo_relaxed.owl vulvar clear cell hidradenocarcinoma NCIT:C40307|DOID:7567|UMLS:C1520076 owl:Class MONDO:0006245 biolink:NamedThing hidradenocarcinoma A carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes. tmpaxzxjjyw_mondo_relaxed.owl hidradenocarcinoma|clear cell eccrine carcinoma ICDO:8402/3|NCIT:C54664|GARD:0010439|EFO:1000295 owl:Class UBERON:0005690 biolink:NamedThing 3rd arch mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18971 biolink:NamedThing AP1S3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002785 biolink:NamedThing skull base neoplasm A benign or malignant neoplasm that affects the skull base. tmpaxzxjjyw_mondo_relaxed.owl skull base cancer|neoplasm of the skull base|basicranium tumor|neoplasm of basicranium|tumors of skull base|tumor of the skull base|skull base tumor|tumor of basicranium|skull base neoplasm|basicranium neoplasm|basicranium neoplasm (disease)|tumor of skull base|neoplasm of skull base NCIT:C4676|UMLS:C0376527|MESH:D019292|DOID:3842 owl:Class UBERON:0015130 biolink:NamedThing connective tissue of prostate gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023158 biolink:NamedThing Fitz-Hugh-Curtis syndrome Fitz-Hugh-Curtis syndrome (FHCS) is a condition in which a woman has swelling of the tissue covering the liver as a result of having pelvic inflammatory disease (PID). Symptoms most often include pain in the upper right abdomen just below the ribs, fever, nausea, or vomiting. The symptoms of pelvic inflammatory disease - pain in the lower abdomen and vaginal discharge -are oftenpresent as well. FHCS is usually caused by an infection of chlamydia or gonorrhea that leads to PID; it is not known why PIDprogresses toFHCS in some women. Fitz-Hugh-Curtis syndrome is treatedwith antibiotics. tmpaxzxjjyw_mondo_relaxed.owl perihepatitis syndrome|gonococcal perihepatitis SCTID:237041005|GARD:0006452|MESH:C537936 Editor note: check taxon https://rarediseases.info.nih.gov/diseases/6452/fitz-hugh-curtis-syndrome owl:Class MONDO:0000922 biolink:NamedThing pelvic inflammatory disease Pelvic inflammatory disease (PID) is an acute or chronic inflammation in the pelvic cavity. It is most commonly caused by sexually transmitted diseases, including chlamydia and gonorrhea that have ascended into the uterus, fallopian tubes, or ovaries as a result of intercourse or childbirth, or of surgical procedures, including insertion of IUDs or abortion. PID may be either symptomatic or asymptomatic. It may cause infertility and it may raise the risk of ectopic pregnancy. PID is a disease associated with HIV infection. tmpaxzxjjyw_mondo_relaxed.owl PID|inflammatory disease (PID), pelvic|pelvic infection|disease (PID), pelvic inflammatory|pelvic inflammatory disease|pelvic inflammatory disease, (PID)|PID, pelvic inflammatory disease ICD9:614.8|NCIT:C3889|MESH:D000292|SCTID:198130006|UMLS:C0242172|ICD9:614-616.99|EFO:1001388|ICD10:N70-N77|ICD9:614.9|ICD10:N73.9|DOID:1003 owl:Class MONDO:0009082 biolink:NamedThing high myopia-sensorineural deafness syndrome High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations. tmpaxzxjjyw_mondo_relaxed.owl deafness and myopia|high myopia-sensorineural deafness syndrome|deafness and myopia syndrome|DFNMYP DOID:0111628|UMLS:CN204687|ICD10:H90.5|SCTID:720506002|GARD:0012844|OMIM:221200|Orphanet:363396 owl:Class MONDO:0020208 biolink:NamedThing syndromic myopia A myopia (disease) that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with myopia (disease)|syndromic myopia (disease) UMLS:CN227818|Orphanet:98620 owl:Class MONDO:0009416 biolink:NamedThing hypoinsulinemic hypoglycemia and body hemihypertrophy tmpaxzxjjyw_mondo_relaxed.owl hypoinsulinemic hypoglycemia with hemihypertrophy|HIHGHH Orphanet:293964|OMIM:240900|UMLS:CN203155 owl:Class MONDO:0006186 biolink:NamedThing duodenal adenocarcinoma A carcinoma that arises from glandular epithelial cells of the duodenum. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of duodenum|adenocarcinoma of the duodenum|duodenum adenocarcinoma|duodenal adenocarcinoma UMLS:C0278804|SCTID:408644002|DOID:10816|EFO:1000223|NCIT:C7889|ONCOTREE:DA owl:Class MONDO:0003952 biolink:NamedThing adult central nervous system choriocarcinoma A choriocarcinoma of the central nervous system that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl choriocarcinoma of the adult central nervous system|choriocarcinoma of the adult CNS|choriocarcinoma of adult CNS|adult choriocarcinoma of the central nervous system|central nervous system choriocarcinoma|adult CNS choriocarcinoma|adult central nervous system choriocarcinoma|choriocarcinoma of the central nervous system of adults|choriocarcinoma of adult central nervous system NCIT:C5793|DOID:6634|UMLS:C1370505 owl:Class UBERON:0004534 biolink:NamedThing right testis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018580 biolink:NamedThing PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIM:616158|ICD10:G40.4|UMLS:CN237608|Orphanet:438213 owl:Class GO:0006082 biolink:NamedThing organic acid metabolic process The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. tmpaxzxjjyw_mondo_relaxed.owl organic acid metabolism owl:Class MONDO:0004359 biolink:NamedThing delusional disorder A disorder characterized by the presence of one or more nonbizarre delusions that persist for at least 1 month; the delusion(s) are not due to schizophrenia or a mood disorder, and do not impair psychosocial functioning apart from the ramifications of the delusion(s). tmpaxzxjjyw_mondo_relaxed.owl ICD9:297.1|NCIT:C94379|DOID:778|ICD10:F22.0|ICD10:F22|SCTID:48500005 owl:Class HGNC:25786 biolink:NamedThing REEP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007834 biolink:NamedThing islet cell adenomatosis A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia. tmpaxzxjjyw_mondo_relaxed.owl INSULINOMATOSIS and diabetes mellitus|Insulinomatosis and diabetes mellitus|islet cell adenomatosis|Nesidioblastosis|INSDM UMLS:C1578917|SCTID:274944000|NCIT:C4375|MESH:C563258|OMIM:147630 owl:Class MONDO:0001933 biolink:NamedThing endocrine pancreas disorder A disease involving the endocrine pancreas. tmpaxzxjjyw_mondo_relaxed.owl disorder of islets of langerhans|disorder of pancreatic islets|disorder of endocrine pancreas|disease of endocrine pancreas|endocrine pancreas disease|disease or disorder of endocrine pancreas|endocrine pancreas disease or disorder|endocrine pancreas disorder SCTID:17346000|NCIT:C27067|ICD9:251|ICD10:E16|DOID:1428|UMLS:C0271633 owl:Class GO:0042435 biolink:NamedThing indole-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of compounds that contain an indole (2,3-benzopyrrole) skeleton. tmpaxzxjjyw_mondo_relaxed.owl indole-containing compound formation|indole-containing compound anabolism|indole-containing compound biosynthesis|indole derivative biosynthesis|indole derivative biosynthetic process|indole-containing compound synthesis owl:Class GO:0042430 biolink:NamedThing indole-containing compound metabolic process The chemical reactions and pathways involving compounds that contain an indole (2,3-benzopyrrole) skeleton. tmpaxzxjjyw_mondo_relaxed.owl indole and derivative metabolic process|ketole metabolic process|indole derivative metabolic process|indole-containing compound metabolism|indole and derivative metabolism|indole derivative metabolism|ketole metabolism owl:Class MONDO:0014945 biolink:NamedThing myopathy, distal, with rimmed vacuoles tmpaxzxjjyw_mondo_relaxed.owl myopathy, distal, with rimmed vacuoles|myopathy, distal, with rimmed vacuoles; DMRV|DMRV OMIM:617158|UMLS:CN239822 owl:Class MONDO:0016443 biolink:NamedThing papular elastorrhexis An acquired form of collagenoma that appears in childhood. It is characterized by discrete, firm, skin-colored, and slightly elevated cutaneous papules, nodules or plaques that may be generalized, or found on the trunk and the extremities. tmpaxzxjjyw_mondo_relaxed.owl disseminated nevus anelasticus|Nevus anelasticus|eruptive collagenoma Orphanet:228264|UMLS:C0473584|SCTID:239138008|UMLS:C0406816|NCIT:C4707 owl:Class MONDO:0000527 biolink:NamedThing colon adenoma An adenoma that arises from the colon. The group of colonic adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. tmpaxzxjjyw_mondo_relaxed.owl adenoma of the colon|colonic adenoma|colon adenoma|adenoma of colon NCIT:C3864|UMLS:C0850572|DOID:0050912 owl:Class MONDO:0011163 biolink:NamedThing malignant hyperthermia, susceptibility to, 5 Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene. tmpaxzxjjyw_mondo_relaxed.owl malignant hyperpyrexia susceptibility type 5|malignant hyperthermia, susceptibility to, 5|malignant hyperthermia susceptibility type 5|Mhs5|CACNA1S malignant hyperthermia of anesthesia|malignant hyperthermia, susceptibility to, type 5|malignant hyperthermia of anesthesia caused by mutation in CACNA1S|MHS5|susceptibility to malignant hyperthermia 5 MESH:C535698|GARD:0003367|OMIM:601887|Orphanet:423 https://rarediseases.info.nih.gov/diseases/3367/malignant-hyperthermia-susceptibility-type-5 owl:Class GO:1900425 biolink:NamedThing negative regulation of defense response to bacterium Any process that stops, prevents or reduces the frequency, rate or extent of defense response to bacterium. tmpaxzxjjyw_mondo_relaxed.owl inhibition of defense response to bacteria|down-regulation of defense response to bacteria|down-regulation of defence response to bacterium|inhibition of response to pathogenic bacterium (incompatible interaction)|down regulation of antibacterial peptide activity|inhibition of response to pathogenic bacteria (incompatible interaction)|down regulation of defence response to bacterium|inhibition of defence response to bacterium|down-regulation of antibacterial peptide activity|down regulation of defense response to bacteria|inhibition of defense response to bacterium, incompatible interaction|downregulation of defence response to bacteria|inhibition of defense response to bacterium|inhibition of resistance response to pathogenic bacteria|downregulation of defence response to bacterium|down-regulation of defense response to bacterium|negative regulation of defence response to bacteria|inhibition of defence response to pathogenic bacteria, incompatible interaction|downregulation of antibacterial peptide activity|down-regulation of defence response to bacteria|downregulation of defense response to bacteria|negative regulation of defense response to bacteria|negative regulation of antibacterial peptide activity|inhibition of defence response to bacteria|inhibition of defence response to pathogenic bacterium, incompatible interaction|down regulation of defense response to bacterium|inhibition of resistance response to pathogenic bacterium|negative regulation of defense response to bacterium, incompatible interaction|down regulation of defence response to bacteria|inhibition of antibacterial peptide activity|negative regulation of defence response to bacterium|downregulation of defense response to bacterium owl:Class MONDO:0007631 biolink:NamedThing chromosome 16p12.1 deletion syndrome, 520kb A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects. tmpaxzxjjyw_mondo_relaxed.owl fragile site, Distamycin a type, Rare, fra(16)(p12.1)|chromosome 16p12.1 deletion syndrome, 520-KB|chromosome 16p12.1 deletion syndrome, type 520kb|fragile site 16P12|chromosome 16p12.1 deletion syndrome MESH:C565001|NCIT:C129875|DOID:0060399|OMIM:136570 owl:Class GO:0045271 biolink:NamedThing respiratory chain complex I Respiratory chain complex I is an enzyme of the respiratory chain. It consists of several polypeptide chains and is L-shaped, with a horizontal arm lying in the membrane and a vertical arm that projects into the matrix. The electrons of NADH enter the chain at this complex. tmpaxzxjjyw_mondo_relaxed.owl NADH-Q oxidoreductase complex|electron transport complex I|NADH dehydrogenase complex (ubiquinone)|NADH dehydrogenase (ubiquinone) complex owl:Class GO:1902495 biolink:NamedThing transmembrane transporter complex A transmembrane protein complex which enables the transfer of a substance from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001277 biolink:NamedThing cerebral arteritis An inflammatory disease involving a pathogenic inflammatory response in the cerebral artery. tmpaxzxjjyw_mondo_relaxed.owl cerebral artery inflammation|inflammation of cerebral artery UMLS:C0007773|DOID:11390|SCTID:28366008|ICD9:437.4 owl:Class MONDO:0003346 biolink:NamedThing central nervous system vasculitis Vasculitis affecting the blood vessels of the brain and/or spinal cord. tmpaxzxjjyw_mondo_relaxed.owl vasculitis of central nervous system|central nervous system vasculitis UMLS:C0751878|DOID:525|NCIT:C84622|MESH:D020293 owl:Class GO:1900371 biolink:NamedThing regulation of purine nucleotide biosynthetic process Any process that modulates the frequency, rate or extent of purine nucleotide biosynthetic processes. tmpaxzxjjyw_mondo_relaxed.owl regulation of purine nucleotide formation|regulation of purine nucleotide anabolism|regulation of purine nucleotide synthesis|regulation of purine nucleotide biosynthesis owl:Class GO:0030808 biolink:NamedThing regulation of nucleotide biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. tmpaxzxjjyw_mondo_relaxed.owl regulation of nucleotide synthesis|regulation of nucleotide anabolism|regulation of nucleotide biosynthesis|regulation of nucleotide formation owl:Class MONDO:0004093 biolink:NamedThing esophageal basaloid carcinoma A rare morphologic variant of esophageal squamous cell carcinoma. Histologically, it is composed of closely packed cells with hyperchromatic nuclei and scant basophilic cytoplasm. It has a similar prognosis to the conventional squamous cell carcinoma of the esophagus. (WHO) tmpaxzxjjyw_mondo_relaxed.owl esophageal basaloid cancer|esophageal basaloid squamous cell carcinoma|basaloid squamous carcinoma of esophagus|esophageal basaloid carcinoma|basaloid squamous carcinoma of the esophagus UMLS:C1333443|NCIT:C7032|DOID:7051 owl:Class UBERON:0011133 biolink:NamedThing intermetatarsal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019461 biolink:NamedThing B-cell prolymphocytic leukemia A neoplasm of prolymphocytes affecting the blood, bone marrow, and spleen. It is characterized by prolymphocytes exceeding 55% of the lymphoid cells in the blood and profound splenomegaly. tmpaxzxjjyw_mondo_relaxed.owl BPLL|B-PLL|B prolymphocytic leukemia|B-cell prolymphocytic leukemia UMLS:C0475801|ICD10:C91.3|ONCOTREE:BPLL|Orphanet:86852|SCTID:277619001|ICDO:9833/3|EFO:1000102|NCIT:C4753|MESH:D054403 owl:Class MONDO:0017595 biolink:NamedThing aggressive B-cell non-Hodgkin lymphoma tmpaxzxjjyw_mondo_relaxed.owl aggressive B-cell NHL Orphanet:300846 owl:Class MONDO:0007380 biolink:NamedThing lattice corneal dystrophy type I Type I lattice corneal dystrophy (LCDI) is a frequent form of stromal corneal dystrophy characterized by a network of delicate interdigitating branching filamentous opacities within the cornea with progressive visual impairment and no systemic manifestations. tmpaxzxjjyw_mondo_relaxed.owl Biber-Haab-Dimmer dystrophy|classic lattice corneal dystrophy|Lcd1|lattice corneal dystrophy, type 1|LCDI|corneal dystrophy, lattice type 1|lattice corneal dystrophy type 1|LCD|corneal dystrophy, lattice type I|CDL1 GARD:0009678|UMLS:CN207224|ICD10:H18.5|OMIM:122200|SCTID:419197009|MESH:C537881|OMIM:608471|Orphanet:98964|UMLS:C1690006 owl:Class MONDO:0004686 biolink:NamedThing lattice corneal dystrophy tmpaxzxjjyw_mondo_relaxed.owl familial amyloid neuropathy, Finnish type|lattice corneal dystrophy (disease)|lattice corneal dystrophy lattice corneal dystrophy (disease) DOID:8943|ICD9:357.4|HP:0001149|ICD9:277.39|SCTID:1192004|UMLS:C0155127 Editor note: TODO this class sourced from DO, may contain mistakes; may be confused with Lattice corneal dystrophy type II owl:Class UBERON:0005417 biolink:NamedThing forelimb bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004347 biolink:NamedThing limb bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001262 biolink:NamedThing African histoplasmosis An disease or disorder caused by infection with Histoplasma capsulatum var. duboisii. tmpaxzxjjyw_mondo_relaxed.owl African histoplasmosis|Histoplasma capsulatum var. duboisii disease or disorder|Histoplasma capsulatum var. duboisii infectious disease|infection by Histoplasma duboisii|Histoplasma capsulatum var. duboisii caused disease or disorder|Histoplasma duboisii infection|large form histoplasmosis UMLS:C0220977|SCTID:78511005|ICD9:115.10|DOID:11315 owl:Class MONDO:0002099 biolink:NamedThing Histoplasma capsulatum infectious disease An disease or disorder caused by infection with Histoplasma capsulatum. tmpaxzxjjyw_mondo_relaxed.owl American histoplasmosis|Histoplasma capsulatum disease or disorder|classical histoplasmosis|infection by Histoplasma capsulatum|darling's disease|infection caused by Histoplasma capsulatum|small form histoplasmosis|Histoplasma capsulatum caused disease or disorder ICD9:115.0|ICD9:115.00|SCTID:76255006|ICD10:B39.4|DOID:1759 owl:Class MONDO:0004408 biolink:NamedThing schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which constitutes more than fifty-percent of the tumor volume. tmpaxzxjjyw_mondo_relaxed.owl composite ganglioneuroblastoma, Schwannian Stroma-rich and Stroma-poor DOID:7951|NCIT:C42059|UMLS:C1516760 owl:Class MONDO:0003325 biolink:NamedThing nodular ganglioneuroblastoma A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, and the formation of hemorrhagic neuroblastic nodules. tmpaxzxjjyw_mondo_relaxed.owl ganglioneuroblastoma, nodular NCIT:C42058|UMLS:C1517445|DOID:5193 owl:Class UBERON:0011863 biolink:NamedThing bone collagen fibril tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030334 biolink:NamedThing regulation of cell migration Any process that modulates the frequency, rate or extent of cell migration. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003897 biolink:NamedThing breast epithelioid hemangioma A hemangioma characterized by the presence of epithelioid endothelial cells, arising from the breast. tmpaxzxjjyw_mondo_relaxed.owl histiocytoid hemangioma of breast|epithelioid hemangioma of breast|breast histiocytoid hemangioma|epithelioid hemangioma of the breast|breast epithelioid hemangioma|histiocytoid hemangioma of the breast|epithelioid breast hemangioma|histiocytoid breast hemangioma DOID:6492|NCIT:C5211|UMLS:C1332627 owl:Class MONDO:0021169 biolink:NamedThing epithelioid hemangioma A hemangioma characterized by the presence of epithelioid endothelial cells. tmpaxzxjjyw_mondo_relaxed.owl histiocytoid hemangioma|epithelioid hemangioma|epithelioid haemangioma MESH:D006391|NCIT:C4298|ICDO:9125/0|DOID:474|UMLS:C0205788 owl:Class MONDO:0014440 biolink:NamedThing Bardet-Biedl syndrome 12 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene. tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome type 12|BBS12|BBS12 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in BBS12|Bardet-Biedl syndrome 12 GARD:0010211|DOID:0110134|UMLS:C1859570|OMIM:615989|EFO:0009023|MESH:C565921|ICD10:Q87.89 owl:Class CHEBI:32863 biolink:NamedThing secondary amine A compound formally derived from ammonia by replacing two hydrogen atoms by hydrocarbyl groups. tmpaxzxjjyw_mondo_relaxed.owl sekundaeres Amin|Secondary amine|secondary amines|R2NH owl:Class CHEBI:50995 biolink:NamedThing secondary amino compound A compound formally derived from ammonia by replacing two hydrogen atoms by organyl groups. tmpaxzxjjyw_mondo_relaxed.owl secondary amino compounds owl:Class MONDO:0012943 biolink:NamedThing retinitis pigmentosa 46 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene. tmpaxzxjjyw_mondo_relaxed.owl RP46|IDH3B retinitis pigmentosa|retinitis pigmentosa caused by mutation in IDH3B|retinitis pigmentosa, autosomal recessive, Idh3B-related|retinitis pigmentosa type 46|retinitis pigmentosa 46 MESH:C567249|OMIM:612572|DOID:0110409|ICD10:H35.5|Orphanet:791|UMLS:C2675496 owl:Class MONDO:0018625 biolink:NamedThing classic stiff person syndrome tmpaxzxjjyw_mondo_relaxed.owl classic SPS ICD10:G25.8|Orphanet:443192|OMIM:184850|UMLS:CN237666 owl:Class UBERON:0006192 biolink:NamedThing mesonephric proximal tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000083 biolink:NamedThing mesonephric tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005721 biolink:NamedThing pronephric mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000926 biolink:NamedThing mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017717 biolink:NamedThing metabolic disease due to other fatty acid oxidation disorder tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:309133|UMLS:CN203613|ICD10:E71.3 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0009106 biolink:NamedThing diastematomyelia A rare congenital abnormality in which the spinal cord is split in half by fibrous or bony tissue. It may present as an isolated phenomenon or in association with spina bifida. tmpaxzxjjyw_mondo_relaxed.owl split cord malformation|diplomyelia|split spinal cord malformation|SCM type 1|SSCM|Dimyelia|Pseudodiplomyelia|diastematomyelia|split cord malformation type 1 NCIT:C98913|SCTID:49351009|GARD:0001851|ICD10:Q06.2|OMIM:222500|Orphanet:1671|UMLS:C0011999|ICD9:742.51|MedDRA:10012750 owl:Class MONDO:0014227 biolink:NamedThing hypopigmentation-punctate palmoplantar keratoderma syndrome tmpaxzxjjyw_mondo_relaxed.owl COLED|guttate hypopigmentation and punctate palmoplantar keratoderma|guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification|guttate hypopigmentation|COLE disease|Cole disease|hypopigmentation and punctate keratosis of the palms and soles|punctate palmoplantar keratoderma with or without ectopic calcification ICD9:757.39|Orphanet:324561|OMIM:615522|SCTID:711154007|ICD10:Q82.8|GARD:0012384|UMLS:C3809781 owl:Class MONDO:0010320 biolink:NamedThing retinitis pigmentosa 23 Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene. tmpaxzxjjyw_mondo_relaxed.owl RP23|retinitis pigmentosa caused by mutation in OFD1|RP 23|retinitis pigmentosa type 23|retinitis pigmentosa 23|OFD1 retinitis pigmentosa GARD:0010391|UMLS:C1419610|DOID:0110412|ICD10:H35.5|Orphanet:791|OMIM:300424 https://rarediseases.info.nih.gov/diseases/10391/retinitis-pigmentosa-23 owl:Class MONDO:0006238 biolink:NamedThing growth hormone-producing pituitary gland adenoma An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly. tmpaxzxjjyw_mondo_relaxed.owl somatotroph adenoma|growth hormone secreting pituitary adenoma|growth hormone producing pituitary gland adenoma|growth hormone-producing adenoma|somatotrope adenoma|GH cell adenoma|growth hormone secreting adenoma of the pituitary gland|growth hormone secreting pituitary gland adenoma|growth hormone secreting adenoma of pituitary|growth hormone producing pituitary adenoma|growth hormone producing adenoma of the pituitary gland|growth hormone producing adenoma of pituitary|growth hormone producing adenoma of the pituitary|somatotropic adenoma|growth hormone producing adenoma of pituitary gland|growth hormone secreting adenoma of pituitary gland|growth hormone secreting adenoma of the pituitary|growth hormone-producing pituitary gland adenoma|Somatotrophinoma ICD10:D35.2|DOID:6255|EFO:1000287|OMIM:300943|SCTID:254957009|OMIM:102200|NCIT:C7461|Orphanet:96256|ICD10:E22.0|EFO:0004125 MONDO:0005332 owl:Class MONDO:0006373 biolink:NamedThing pituitary gland adenoma A non-metastasizing tumor that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. The diagnosis can be based on imaging studies and/or radioimmunoassays. Due to its location in the sella turcica, expansion of the tumor mass can impinge on the optic chiasm or involve the temporal lobe, third ventricle and posterior fossa A frequently associated physical finding is bitemporal hemianopsia which may progress to further visual loss. tmpaxzxjjyw_mondo_relaxed.owl adenoma, anterior lobe pituitary gland, benign|adenoma of the pituitary gland|pituitary adenoma|adenoma of pituitary gland|adenoma of the pituitary|adenoma of pituitary|PTAD|pituitary gland adenoma ONCOTREE:PTAD|MedDRA:10035079|ICD10:D35.2|NCIT:C3329|DOID:3829|ICDO:8272/0|UMLS:C0032000|EFO:1000478|SCTID:254956000|Orphanet:99408 owl:Class HP:0002900 biolink:NamedThing Hypokalemia An abnormally decreased potassium concentration in the blood. tmpaxzxjjyw_mondo_relaxed.owl Low blood potassium levels SNOMEDCT_US:43339004|MSH:D007008|SNOMEDCT_US:166690008|UMLS:C0020621 human_phenotype owl:Class HP:0011042 biolink:NamedThing Abnormal blood potassium concentration An abnormal concentration of potassium. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of potassium homeostasis|Abnormal blood K concentration UMLS:C4023575 peter 2011-03-09T11:00:32Z human_phenotype owl:Class MONDO:0013459 biolink:NamedThing osteogenesis imperfecta type 10 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene. tmpaxzxjjyw_mondo_relaxed.owl SERPINH1 osteogenesis imperfecta|OI10|osteogenesis imperfecta, type 10|osteogenesis imperfecta type X|osteogenesis imperfecta caused by mutation in SERPINH1|OI type 10|OI, type 10|osteogenesis imperfecta, type X|OI type X Orphanet:216812|UMLS:C3151211|OMIM:613848|ICD10:Q78.0|GARD:0012874|DOID:0110346 owl:Class MONDO:0017944 biolink:NamedThing invasive non-typhoidal salmonellosis Invasive non-typhoidal salmonellosis (iNTS) is a rare bacterial infectious disease caused by extraintestinal infection of non-typhoidal serotypes of Salmonella enterica in patients with underlying HIV infection, malaria or malignancy. It has a high mortality rate and patients typically present with fever, pallor and respiratory signs (cough, tachnypnea, pneumonia). Gastrointestinal manifestations (diarrhea, vomit, abdominal pain) are not common. Occasionally, organ absseses, septic shock and meningitis may be observed. tmpaxzxjjyw_mondo_relaxed.owl iNTS disease|invasive non-typhoidal salmonella disease ICD10:A02.8|Orphanet:324648|ICD10:A02.1|ICD10:A02.0|ICD10:A02.2|SCTID:763772002|ICD10:A02.9 owl:Class MONDO:0000827 biolink:NamedThing salmonellosis Infections with bacteria of the genus salmonella. tmpaxzxjjyw_mondo_relaxed.owl rare form of salmonellosis|infections, Salmonella|Salmonella infection ICD10:A02.1|UMLS:CN205993|ICD10:A02.0|ICD10:A02.2|Orphanet:795|ICD9:003.0|ICD9:003.8|UMLS:C0036117|ICD10:A01.3|SCTID:302231008|ICD10:A01.0|ICD10:A02.9|ICD10:A01.1|EFO:1001418|ICD10:A01.2|ICD10:A02.8|MedDRA:10039447|DOID:0060859|ICD10:A01.4|MESH:D012480|ICD9:003.9 https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0030974 biolink:NamedThing mitochondrial complex 2 deficiency, nuclear type 4 tmpaxzxjjyw_mondo_relaxed.owl mitochondrial complex 2 deficiency, nuclear type 4|MC2DN4 OMIM:619224 owl:Class MONDO:0031230 biolink:NamedThing mitochondrial complex II deficiency, nuclear type tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:252011 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0005747 biolink:NamedThing mitochondrial respiratory chain complex I A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014680 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 7 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the IRF3 gene. tmpaxzxjjyw_mondo_relaxed.owl IIAE7|IRF3 herpes simplex encephalitis|Herpes simplex encephalitis, susceptibility to, type 7|Herpes simplex encephalitis, susceptibility to, 5|herpes simplex encephalitis, susceptibility to, 7|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 7|herpes simplex encephalitis caused by mutation in IRF3|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 7|encephalopathy, acute, infection-induced, susceptibility to, 7 Orphanet:1930|OMIM:616532 owl:Class MONDO:0001400 biolink:NamedThing schwannoma of ureter A benign nerve sheath tumor composed of Schwann cells, occurring in the ureter. tmpaxzxjjyw_mondo_relaxed.owl neurilemmoma of the ureter|ureter neurilemmoma|schwannoma of the ureter|ureteral neurilemmoma|ureteral schwannoma|ureter schwannoma|neurilemmoma of ureter DOID:11888|UMLS:C1336877|NCIT:C6162 owl:Class OBO:CHR_9606-chr2p16 biolink:NamedThing 2p16 (Human) tmpaxzxjjyw_mondo_relaxed.owl 61000000 47500000 hg38 owl:Class MONDO:0022568 biolink:NamedThing bidirectional tachycardia tmpaxzxjjyw_mondo_relaxed.owl bidirectional ventricular tachycardia UMLS:C2930902|GARD:0000878|MESH:C535438 https://rarediseases.info.nih.gov/diseases/878/bidirectional-tachycardia owl:Class CL:0005024 biolink:NamedThing somatomotor neuron A motor neuron that innervates a skeletal muscle. These motor neurons are all excitatory and cholinergic. tmpaxzxjjyw_mondo_relaxed.owl somatic motor neuron owl:Class CL:0000100 biolink:NamedThing motor neuron An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes or inhibits movement. tmpaxzxjjyw_mondo_relaxed.owl motoneuron BTO:0000312|FMA:83617|WBbt:0005409 cell owl:Class MONDO:0007352 biolink:NamedThing renal coloboma syndrome Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia. tmpaxzxjjyw_mondo_relaxed.owl papillo-renal syndrome, optic nerve coloboma with renal disease|Papillo-renal syndrome|PAPRS|renal-coloboma syndrome with macular abnormalities|optic coloboma, vesicoureteral reflux and renal anomalies|PAPILLORENAL syndrome|CAKUT with or without ocular abnormalities|optic nerve coloboma with renal disease|optic coloboma, vesicoureteral reflux, and renal anomalies|papillorenal syndrome|coloboma of optic nerve with renal disease|renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities ICD10:Q60.4|ICD9:759.89|NCIT:C123230|GARD:0004106|MESH:C537168|SCTID:446449009|Orphanet:1475|OMIM:120330|UMLS:C1852759|DOID:0090006 https://rarediseases.info.nih.gov/diseases/4106/renal-coloboma-syndrome owl:Class GO:0031337 biolink:NamedThing positive regulation of sulfur amino acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of sulfur amino acid metabolism|stimulation of sulfur amino acid metabolic process|upregulation of sulfur amino acid metabolic process|up regulation of sulfur amino acid metabolic process|up-regulation of sulfur amino acid metabolic process|activation of sulfur amino acid metabolic process owl:Class MONDO:0001713 biolink:NamedThing inherited aplastic anemia An inborn condition characterized by deficiencies of red cell precursors that sometimes also includes leukopenia and thrombocytopenia. tmpaxzxjjyw_mondo_relaxed.owl constitutional aplastic anemia|rare constitutional aplastic anemia|congenital aplastic anemia|congenital hypoplastic anemia|hereditary aplastic anemia|constitutional aplastic anaemia|hypoplastic anemia - familial MESH:D029502|ICD9:284.09|GARD:0006149|DOID:1342|SCTID:28975000|UMLS:C0949116|UMLS:C0702159|ICD9:284.0|Orphanet:68383|ICD10:D61.01|ICD10:D61.0 In DO this is classified as idiopathic; however, ORDO classifies idiopathic as acquired which leads to an inconsistency owl:Class GO:2001170 biolink:NamedThing negative regulation of ATP biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of ATP biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of ATP anabolism|negative regulation of ATP formation|negative regulation of ATP biosynthesis|negative regulation of ATP regeneration|negative regulation of ATP synthesis owl:Class MONDO:0011230 biolink:NamedThing ossification of the posterior longitudinal ligament of the spine A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms. tmpaxzxjjyw_mondo_relaxed.owl ossification of Posterior longitudinal ligament|ossification of the POSTERIOR longitudinal ligament of spine|OPLL DOID:0060887|EFO:0005895|SCTID:90448008|UMLS:C1865343|GARD:0009699|MESH:C537143|NCIT:C84975|OMIM:602475 owl:Class MONDO:0005874 biolink:NamedThing neuroschistosomiasis Schistosomiasis of the brain, spinal cord, or meninges caused by infections with trematodes of the genus schistosoma (primarily schistosoma japonicum; schistosoma mansoni; and schistosoma haematobium in humans). S. japonicum infections of the nervous system may cause an acute meningoencephalitis or a chronic encephalopathy. S. mansoni and S. haematobium nervous system infections are associated with acute transverse myelitis involving the lower portions of the spinal cord. (From Joynt, Clinical Neurology, 1998, Ch27, pp61-2) tmpaxzxjjyw_mondo_relaxed.owl EFO:0007394|DOID:13722|UMLS:C0752191|MESH:D020818 owl:Class MONDO:0015254 biolink:NamedThing schistosomiasis An infectious disease caused by parasitic trematodes of the genus Schistosoma that colonize human blood vessels and release eggs that can cause granulomatous reactions leading to acute (swimmer's itch or acute schistosomiasis syndrome) or chronic disease. Depending on where the eggs lodge, manifestations of chronic schistosomiasis can include diarrhea, abdominal pain, loss of appetite, anemia (intestines), hepatosplenism, periportal fibrosis with portal hypertension (liver), urogenital inflammation and scarring, hematuria and dysuria (genitourinary system). Other patients may be asymptomatic. tmpaxzxjjyw_mondo_relaxed.owl bilharziasis|snail fever|Bilharzia|schistosomiasis DOID:1395|OMIM:181460|MedDRA:10039603|SCTID:10087007|EFO:1001475|UMLS:C0036323|ICD10:B65.3|ICD9:120.9|Orphanet:1247|NCIT:C35000|ICD10:B65.9|ICD10:B65.2|ICD10:B65.0|GARD:0009687|ICD10:B65.8|MESH:D012552|ICD9:120.8|ICD10:B65.1 owl:Class HGNC:9865 biolink:NamedThing RARB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030037 biolink:NamedThing neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES|Glycosylphosphatidylinositol Biosynthesis Defect 22|neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures|NEDHCAS OMIM:618879 owl:Class MONDO:0006635 biolink:NamedThing Acinetobacter infectious disease Infections with bacteria of the genus acinetobacter. tmpaxzxjjyw_mondo_relaxed.owl Acinetobacter caused disease or disorder|Acinetobacter disease or disorder|Acinetobacter infection|infections, Mimae|infections, Acinetobacter|Mimae infections|infection, Mimae|infection, Acinetobacter|Mimae infection UMLS:C0001139|DOID:3091|EFO:1000792|MESH:D000151 owl:Class MONDO:0015096 biolink:NamedThing familial hypofibrinogenemia Familial hypofibrinogenemia is a coagulation disorder characterized by mild bleeding symptoms following trauma or surgery due to a reduced plasma fibrinogen concentration. tmpaxzxjjyw_mondo_relaxed.owl hypofibrinogenemia, familial ICD10:D68.2|Orphanet:101041|GARD:0002887|OMIM:202400|UMLS:CN197419 https://rarediseases.info.nih.gov/diseases/2887/hypofibrinogenemia-familial owl:Class MONDO:0008737 biolink:NamedThing congenital afibrinogenemia Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen. tmpaxzxjjyw_mondo_relaxed.owl familial afibrinogenemia|afibrinogenemia|afibrinogenemia, congenital|factor I deficiency|fibrinogen deficiency|afibrinogenemia congenital|hypofibrinogenemia, congenital GARD:0005761|Orphanet:98880|ICD10:D68.2|Orphanet:101041|DOID:2236|Orphanet:335|OMIM:202400|SCTID:154818001|NCIT:C98130|MESH:D000347 owl:Class MONDO:0012339 biolink:NamedThing celiac disease, susceptibility to, 4 Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene. tmpaxzxjjyw_mondo_relaxed.owl celiac disease, susceptibility to, 4|gluten-sensitive enteropathy, susceptibility to, 4|MYO9B celiac disease|celiac disease, susceptibility to, type 4|celiac disease caused by mutation in MYO9B|CELIAC4|susceptibility to celiac disease 4 OMIM:609753 owl:Class HP:0000546 biolink:NamedThing Retinal degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells. tmpaxzxjjyw_mondo_relaxed.owl Retina degeneration MSH:D012162|UMLS:C0035304|SNOMEDCT_US:95695004 HP:0007790|HP:0007893|HP:0007632|HP:0007863 human_phenotype owl:Class HP:0000479 biolink:NamedThing Abnormal retinal morphology A structural abnormality of the retina. tmpaxzxjjyw_mondo_relaxed.owl Abnormal retina|Retina issue|Abnormality of the retina|Anomaly of the retina|Retinal disease UMLS:C0035309|UMLS:C0035300|SNOMEDCT_US:29555009|MSH:D012164 HP:0007938 human_phenotype owl:Class UBERON:0004927 biolink:NamedThing submucosa of cecum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0026762 biolink:NamedThing Wieacker-Wolff syndrome, female-restricted tmpaxzxjjyw_mondo_relaxed.owl WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED|WRWFFR OMIM:301041 owl:Class GO:0061025 biolink:NamedThing membrane fusion The membrane organization process that joins two lipid bilayers to form a single membrane. tmpaxzxjjyw_mondo_relaxed.owl cellular membrane fusion|single-organism membrane fusion owl:Class GO:0061024 biolink:NamedThing membrane organization A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. tmpaxzxjjyw_mondo_relaxed.owl cellular membrane organisation|membrane organization and biogenesis|membrane organisation|single-organism membrane organization|cellular membrane organization owl:Class UBERON:0003553 biolink:NamedThing diencephalon pia mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000900 biolink:NamedThing naive thymus-derived CD8-positive, alpha-beta T cell A CD8-positive, alpha-beta T cell that has not experienced activation via antigen contact and has the phenotype CD45RA-positive, CCR7-positive and CD127-positive. This cell type is also described as being CD25-negative, CD62L-high and CD44-low. tmpaxzxjjyw_mondo_relaxed.owl naive CD8+ T cell|naive thymus-dervied CD8-positive, alpha-beta T lymphocyte|naive thymus-dervied CD8-positive, alpha-beta T-lymphocyte|T.8Nve.Sp|naive thymus-dervied CD8-positive, alpha-beta T-cell This cell traffics in secondary lymphoid organs and blood. This cell type is compatible with the HIPC Lyoplate markers for 'naive CD8+ T cell', but includes additional markers known to be expressed on naive CD8+ T cells. cell owl:Class CHEBI:33249 biolink:NamedThing organyl group Any organic substituent group, regardless of functional type, having one free valence at a carbon atom. tmpaxzxjjyw_mondo_relaxed.owl grupos organilo|groupe organyle|organyl group|organyl groups|grupo organilo owl:Class GO:0007264 biolink:NamedThing small GTPase mediated signal transduction Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. tmpaxzxjjyw_mondo_relaxed.owl small GTPase-mediated signal transduction owl:Class MONDO:0002682 biolink:NamedThing cerebral ventricle cancer A neoplasm that involves a brain ventricle. It may be a primary neoplasm arising from a brain ventricle, a metastasis from a distant anatomic site, or an extension of an invasive neoplasm from an adjacent brain structure. tmpaxzxjjyw_mondo_relaxed.owl intraventricular neoplasm of brain|cerebral ventricle neoplasm|intraventricular tumor of brain|malignant neoplasm of brain ventricle|cancer of brain ventricle|intraventricular brain neoplasms|brain ventricle cancer|intraventricular brain tumor|malignant brain ventricle neoplasm|intraventricular neoplasms|brain neoplasms, intraventricular|intraventricular tumor of the brain|intraventricular neoplasm of the brain|intraventricular brain neoplasm ICD10:C71.5|MESH:D002551|DOID:3541|GARD:0006025|NCIT:C2937|EFO:0007201|ICD9:191.5|SCTID:126958000 https://rarediseases.info.nih.gov/diseases/6025/cerebral-ventricle-cancer owl:Class ENVO:01001687 biolink:NamedThing mass of solid material An object which is composed primarily of a solid environmental material tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001686 biolink:NamedThing mass of environmental material An object which is composed primarily of an environmental material tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019809 biolink:NamedThing congenital aortic valve insufficiency Dysfunction of the aortic valve characterized by incomplete valve closure that is present at birth. tmpaxzxjjyw_mondo_relaxed.owl congenital aortic insufficiency|Congential aortic valve insufficiency|congenital insufficiency of aortic valve UMLS:C0158617|ICD9:746.4|NCIT:C103936|MedDRA:10010370|ICD10:Q23.1|Orphanet:95449|SCTID:28656008 owl:Class MONDO:0005648 biolink:NamedThing aortic valve insufficiency Dysfunction of the aortic valve characterized by incomplete valve closure. tmpaxzxjjyw_mondo_relaxed.owl rheumatic aortic valve insufficiency|aortic regurgitation|Corrigan's disease|rheumatic aortic valve regurgitation|aortic insufficiency|rheumatic aortic regurgitation|rheumatic aortic insufficiency|aortic incompetence EFO:0007148|MESH:D001022|ICD9:395.1|UMLS:C0155568|ICD10:I06.1|NCIT:C51223|UMLS:C0003504|DOID:57|SCTID:78031003|ICD9:396.3 owl:Class MONDO:0016376 biolink:NamedThing confetti-like macular atrophy tmpaxzxjjyw_mondo_relaxed.owl ICD10:L90.8|Orphanet:221142 owl:Class GO:1903053 biolink:NamedThing regulation of extracellular matrix organization Any process that modulates the frequency, rate or extent of extracellular matrix organization. tmpaxzxjjyw_mondo_relaxed.owl regulation of extracellular matrix organisation|regulation of extracellular matrix organization and biogenesis owl:Class HP:0002300 biolink:NamedThing Mutism tmpaxzxjjyw_mondo_relaxed.owl Inability to speak|Muteness UMLS:C0026884|MSH:D009155|SNOMEDCT_US:88052002 human_phenotype owl:Class HP:0000708 biolink:NamedThing Behavioral abnormality An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Behavioural symptoms|Psychiatric disturbances|Behavioral disorders|Behavioural disturbances|Behavioural changes|Behavioral changes|Behavioral symptoms|Behavioral disturbances|Behavioural disorders|Psychiatric disorders|Behavioral abnormality|Behavioral problems|Behavioural/Psychiatric abnormality|Behavioural abnormality|Behavioral/psychiatric abnormalities|Behavioural problems MSH:D001526|UMLS:C0233514|UMLS:C0004941|SNOMEDCT_US:277843001|MSH:D000066553|SNOMEDCT_US:25786006 HP:0000715|HP:0002456|HP:0002368 human_phenotype owl:Class GO:0002833 biolink:NamedThing positive regulation of response to biotic stimulus Any process that activates or increases the frequency, rate, or extent of a response to biotic stimulus. tmpaxzxjjyw_mondo_relaxed.owl up regulation of response to biotic stimulus|activation of response to biotic stimulus|stimulation of response to biotic stimulus|upregulation of response to biotic stimulus|up-regulation of response to biotic stimulus owl:Class GO:0044283 biolink:NamedThing small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. tmpaxzxjjyw_mondo_relaxed.owl small molecule biosynthesis owl:Class MONDO:0008768 biolink:NamedThing ceroid lipofuscinosis, neuronal, 6B (Kufs type) Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CLN6 gene. tmpaxzxjjyw_mondo_relaxed.owl adult neuronal ceroid lipofuscinosis 4A|Kuf's disease, autosomal recessive|CLN6 neuronal ceroid lipofuscinosis|Kuf's disease type A|neuronal ceroid lipofuscinosis caused by mutation in CLN6|ceroid lipofuscinosis, neuronal, 4A, autosomal recessive|autosomal recessive neuronal ceroid lipofuscinosis 4A|CLN4A disease|neuronal ceroid lipofuscinosis type 4A|neuronal ceroid lipofuscinosis 4A|CLN4A Orphanet:79262|ICD10:E75.4|UMLS:C0022797|DOID:0110730|GARD:0006845|OMIM:204300|Orphanet:228340 owl:Class GO:0046877 biolink:NamedThing regulation of saliva secretion Any process that modulates the frequency, rate or extent of the regulated release of saliva from a cell or a tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:71584 biolink:NamedThing Balantidium tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:71583 biolink:NamedThing Balantidiidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002255 biolink:NamedThing hypertrophic elongation of cervix tmpaxzxjjyw_mondo_relaxed.owl SCTID:198353000|DOID:2251|UMLS:C0020561|ICD10:N88.4|ICD9:622.6 owl:Class MONDO:0002256 biolink:NamedThing cervix disorder A non-neoplastic or neoplastic disorder that affects the cervix. Representative examples include cervicitis, endocervical polyp, and carcinoma. tmpaxzxjjyw_mondo_relaxed.owl uterine cervix disease|disorder of uterine cervix|disease of uterine cervix|uterine cervix disease or disorder|cervical disorder|disease or disorder of uterine cervix DOID:2253|SCTID:63339007|NCIT:C40241|UMLS:C0007867|MESH:D002577 owl:Class MONDO:0001196 biolink:NamedThing psychologic dyspareunia tmpaxzxjjyw_mondo_relaxed.owl dyspareunia, psychogenic|non-organic dyspareunia SCTID:41021005|DOID:11120|MESH:D004414|ICD10:F52.6|ICD9:302.76 owl:Class MONDO:0700057 biolink:NamedThing neurological pain disorder A nervous system disorder that has pain as a major feature. tmpaxzxjjyw_mondo_relaxed.owl neurological pain disease|neurologic pain syndrome http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0014128 biolink:NamedThing TCF12-related craniosynostosis Any craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene. tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis type 3|craniosynostosis 3|craniosynostosis caused by mutation in TCF12|TCF12-related craniosynostosis|TCF12 craniosynostosis|CRS3 Orphanet:35098|Orphanet:35099|UMLS:C3715051|OMIM:615314 https://github.com/monarch-initiative/mondo/issues/2657 owl:Class GO:1901565 biolink:NamedThing organonitrogen compound catabolic process The chemical reactions and pathways resulting in the breakdown of organonitrogen compound. tmpaxzxjjyw_mondo_relaxed.owl organonitrogen compound breakdown|organonitrogen compound catabolism|organonitrogen compound degradation owl:Class OBO:CHR_9606-chr3q27 biolink:NamedThing 3q27 (Human) tmpaxzxjjyw_mondo_relaxed.owl 188200000 183000000 hg38 owl:Class MONDO:0010160 biolink:NamedThing tyrosinemia type II Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl tyrosine aminotransferase deficiency|keratosis palmoplantaris with corneal dystrophy|tyrosinemia due to TAT deficiency|oculocutaneous tyrosinemia|Oregon type tyrosinemia|tyrosinemia type II|keratosis palmoplantaris-corneal dystrophy syndrome|tyrosinemia, type II|tyrosinemia due to tyrosine aminotransferase deficiency|tyrosine transaminase deficiency|tyrosinemia type 2|tyrosinemia, type 2|Tyrosinosis oculocutaneous type|TYRSN2|Tat deficiency|Richner-Hanhart syndrome|Richner Hanhart syndrome|Tyrosinosis, oculocutaneous type DOID:0050725|MedDRA:10069463|GARD:0003105|Orphanet:28378|ICD10:E70.2|NCIT:C129032|OMIM:276600|SCTID:4887000 https://rarediseases.info.nih.gov/diseases/3105/tyrosinemia-type-2 owl:Class MONDO:0014777 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies 2 Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene. tmpaxzxjjyw_mondo_relaxed.owl hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2|IHPRF2|hypotonia, infantile, with psychomotor retardation and characteristic facies type 2|UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies|hypotonia, infantile, with psychomotor retardation and characteristic facies 2|hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80 OMIM:616801|UMLS:C4225203 owl:Class HGNC:2439 biolink:NamedThing CSF3R tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011314 biolink:NamedThing Abnormality of long bone morphology An abnormality of size or shape of the long bones. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the tubular bones|Abnormal shape of long bone UMLS:C4021165 hecht 2012-02-12T02:31:03Z HP:0100713|HP:0100715|HP:0100714 human_phenotype owl:Class HP:0011844 biolink:NamedThing Abnormal appendicular skeleton morphology An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023163 peter 2012-05-07T08:12:26Z human_phenotype owl:Class MONDO:0004794 biolink:NamedThing exposure keratitis tmpaxzxjjyw_mondo_relaxed.owl lagophthalmic keratitis|exposure keratoconjunctivitis ICD9:370.34|SCTID:14366000|DOID:9461|ICD10:H16.21|UMLS:C0339295 owl:Class UBERON:0005422 biolink:NamedThing pelvic appendage apical ectodermal ridge tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100452 biolink:NamedThing RPE65-related dominant retinopathy A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 87 with choroidal involvement|RP87|dominant RPE65 retinopathy http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class MONDO:0005881 biolink:NamedThing oligohydramnios A lower than normal quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of less than 5 cm or a single maximum vertical pocket (MVP) of less than 2 cm. tmpaxzxjjyw_mondo_relaxed.owl oligohydramnios - delivered|antepartum oligohydramnios|delivered oligohydramnios|oligohydramnios|oligohydramnios (disease) oligohydramnios (disease) EFO:0007401|ICD9:658.0|DOID:12215|MESH:D016104|ICD10:O41.0|ICD10:O41.00|HP:0001562|ICD9:658.00|NCIT:C92839|SCTID:59566000 Consider obsoleting as represents a finding owl:Class MONDO:0002661 biolink:NamedThing uveal disorder A non-neoplastic or neoplastic disorder that affects the uvea. Representative examples include uveitis, chorioretinitis, and uveal melanoma. tmpaxzxjjyw_mondo_relaxed.owl disorder of uvea|uveal tract disease|disease or disorder of uvea|uveal disease|disease of uvea|uvea disease or disorder|disorder of uveal tract|uvea disease|uveal diseases|uveal disorder GARD:0008192|NCIT:C26908|UMLS:C0042161|MESH:D014603|SCTID:95678007|DOID:3480 owl:Class MONDO:0006594 biolink:NamedThing pemphigus Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).This conditioncan occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America. Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.Treatment includes steroids to reduce inflammation,drugs that suppress the immune system responseand antibiotics to treat associated infections. There are four main types of pemphigus: Pemphigus vulgaris Pemphigus foliaceus IgA pemphigus Paraneoplastic pemphigus tmpaxzxjjyw_mondo_relaxed.owl EFO:1000749|MESH:D010392|DOID:9182|ICD9:694.4|GARD:0007352|SCTID:65172003|NCIT:C34909|ICD10:L10|ICD10:L10.9|UMLS:C0030807|Wikipedia:Pemphigus https://rarediseases.info.nih.gov/diseases/7352/pemphigus owl:Class MONDO:0019337 biolink:NamedThing autoimmune bullous skin disease An autoimmune disease characterized by blisters on the skin. tmpaxzxjjyw_mondo_relaxed.owl bullous dermatosis|bullous skin disease DOID:8502|ICD9:694.8|UMLS:CN206006|ICD9:694.9|Orphanet:79669|EFO:1000673|SCTID:7231009 owl:Class GO:0030073 biolink:NamedThing insulin secretion The regulated release of proinsulin from secretory granules accompanied by cleavage of proinsulin to form mature insulin. In vertebrates, insulin is secreted from B granules in the B cells of the vertebrate pancreas and from insulin-producing cells in insects. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003163 biolink:NamedThing cauda equina intradural extramedullary astrocytoma tmpaxzxjjyw_mondo_relaxed.owl intradural extramedullary astrocytoma of the Cauda equina|intradural extramedullary astrocytic tumor of the Cauda equina|intradural extramedullary astrocytoma of Cauda equina|intradural extramedullary Cauda equina astrocytoma NCIT:C5408|UMLS:C1334254|DOID:4846 owl:Class UBERON:0000351 biolink:NamedThing nuchal ligament tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011942 biolink:NamedThing systemic lupus erythematosus with nephritis, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl SLEN1|systemic lupus erythematosus with nephritis, susceptibility to, 1 OMIM:607965 owl:Class MONDO:0020451 biolink:NamedThing congenital stenosis of the inferior vena cava tmpaxzxjjyw_mondo_relaxed.owl congenital stenosis of the inferior caval vein|congenital stenosis of the IVC ICD9:747.49|ICD10:Q26.0|Orphanet:99122|SCTID:62335009 owl:Class MONDO:0019830 biolink:NamedThing congenital anomaly of the inferior vena cava tmpaxzxjjyw_mondo_relaxed.owl congenital anomaly of the IVC|congenital anomaly of the inferior caval vein Orphanet:95499|ICD9:747.49|SCTID:81577001|ICD10:Q26.9 owl:Class MONDO:0021066 biolink:NamedThing urinary system neoplasm A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003 tmpaxzxjjyw_mondo_relaxed.owl tumor of renal system|urinary system tumor|urinary system neoplasm|renal system neoplasm|neoplasm of the urinary system|urinary tract tumor|neoplasm of urinary system|tumor of urinary system|tumor of the urinary tract|urinary tract neoplasm|neoplasm of renal system|tumor of the urinary system|renal system neoplasm (disease)|neoplasm of urinary tract|tumor of urinary tract|neoplasm of the urinary tract|renal system tumor NCIT:C3431|SCTID:126879004|ICD9:239.5|ONCOTREE:BLADDER Editor note: note the ONCOTREE class is more general than just bladder owl:Class HGNC:26034 biolink:NamedThing SDHAF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:451866 biolink:NamedThing Taphrinomycotina tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021218 biolink:NamedThing placenta neoplasm A neoplasm (disease) that involves the placenta. tmpaxzxjjyw_mondo_relaxed.owl placental tumors|placental tumor|neoplasm of placenta|placenta tumor|placenta tumors|trophoblastic tumor placental site|neoplasm of the placenta|placenta neoplasms|placenta neoplasm (disease)|tumor of the placenta|placental neoplasm|tumor of placenta GARD:0007403|NCIT:C4858 owl:Class UBERON:0001896 biolink:NamedThing medulla oblongata tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03412611 biolink:NamedThing doe (goat) A female goat tmpaxzxjjyw_mondo_relaxed.owl nanny goat owl:Class NCBITaxon:9925 biolink:NamedThing Capra hircus tmpaxzxjjyw_mondo_relaxed.owl goat|Capra aegagrus hircus|Capra hircus Linnaeus, 1758|goats|domestic goat GC_ID:1 NCBITaxon:57076 ncbi_taxonomy owl:Class MONDO:0016034 biolink:NamedThing cleft lip with or without cleft palate tmpaxzxjjyw_mondo_relaxed.owl Tessier cleft number 1,2 Orphanet:1991|ICD10:Q36.1|ICD10:Q37.9|ICD10:Q37.3|ICD10:Q37.8|ICD10:Q36.0|ICD10:Q36.9|ICD10:Q37.5|ICD10:Q37.0|ICD10:Q37.2|ICD10:Q37.1|ICD10:Q37.4 owl:Class CHEBI:26766 biolink:NamedThing steroid lactone tmpaxzxjjyw_mondo_relaxed.owl steroid lactones owl:Class CHEBI:25000 biolink:NamedThing lactone Any cyclic carboxylic ester containing a 1-oxacycloalkan-2-one structure, or an analogue having unsaturation or heteroatoms replacing one or more carbon atoms of the ring. tmpaxzxjjyw_mondo_relaxed.owl Lacton|lactones|Lakton|lactone|lactona|Laktone|lactonas owl:Class MONDO:0023161 biolink:NamedThing viral myocarditis Myocarditis that is caused by an infection with a viral agent. tmpaxzxjjyw_mondo_relaxed.owl viral myocarditis|Viral Myocarditis|Viral myocarditis SCTID:89141000|NCIT:C128381|UMLS:C0276138 owl:Class MONDO:0001988 biolink:NamedThing external pathological resorption tmpaxzxjjyw_mondo_relaxed.owl SCTID:41918006|ICD10:K03.3|ICD9:521.42|UMLS:C0266878|DOID:14529 owl:Class UBERON:0005483 biolink:NamedThing thymus lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010367 biolink:NamedThing conjunctival vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000667 biolink:NamedThing collagen secreting cell An extracellular matrix secreting cell that secretes collagen. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0000327 biolink:NamedThing extracellular matrix secreting cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class ENVO:00000020 biolink:NamedThing lake A body of water or other liquid of considerable size contained in a depression on a landmass. tmpaxzxjjyw_mondo_relaxed.owl lochan|broad|pasteuer lake|open water|mere|llyn|tarn|mortlake|catch basin|loch|lough owl:Class OBO:CHR_9606-chr17 biolink:NamedThing chromosome 17 (Human) tmpaxzxjjyw_mondo_relaxed.owl 17 83257441 0 hg38 owl:Class MONDO:0018761 biolink:NamedThing SMARCA4-deficient sarcoma of thorax tmpaxzxjjyw_mondo_relaxed.owl SMARCA4-deficient thoracic sarcoma Orphanet:466962|DOID:0080532|UMLS:CN242100 owl:Class MONDO:0020641 biolink:NamedThing respiratory tract neoplasm A benign or malignant, primary or metastatic neoplasm involving the respiratory tract. tmpaxzxjjyw_mondo_relaxed.owl neoplasms, respiratory tract|neoplasm, respiratory tract|respiratory system neoplasm|respiratory tract tumor|tract neoplasms, respiratory|tumor of the respiratory tract|tract neoplasm, respiratory|neoplasm of the respiratory tract|respiratory tract neoplasm|tumor of respiratory tract|neoplasm of respiratory tract SCTID:126667002|EFO:0003853|MESH:D012142|NCIT:C3355 owl:Class CHEBI:36915 biolink:NamedThing inorganic cation tmpaxzxjjyw_mondo_relaxed.owl inorganic cations owl:Class CHEBI:36916 biolink:NamedThing cation A monoatomic or polyatomic species having one or more elementary charges of the proton. tmpaxzxjjyw_mondo_relaxed.owl Kationen|cationes|cations|cation|Kation|Cation owl:Class NCBITaxon:33349 biolink:NamedThing Neoheteroptera tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:2602 biolink:NamedThing CYP24A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003388 biolink:NamedThing mesothelium of pericardial cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002122 biolink:NamedThing capsule of thymus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009107 biolink:NamedThing diastrophic dysplasia Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). tmpaxzxjjyw_mondo_relaxed.owl diastrophic dwarfism|DD|diastrophic dysplasia|DTD|diastrophic dysplasia, Broad bone-Platyspondylic variant SCTID:58561002|ICD9:756.89|OMIM:222600|Orphanet:628|ICD10:Q77.5|MESH:C536170|DOID:14687|GARD:0006275 owl:Class MONDO:0019688 biolink:NamedThing sulfation-related bone disorder tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227674|Orphanet:93423 owl:Class UBERON:0001297 biolink:NamedThing serosa of uterus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0009115 biolink:NamedThing Aplasia/hypoplasia involving the skeleton Absence (due to failure to form) or underdevelopment of one or more components of the skeleton. tmpaxzxjjyw_mondo_relaxed.owl Absent/underdeveloped skeleton|Absent/small skeleton UMLS:C4024592 peter 2008-04-05T10:53:00Z human_phenotype owl:Class HP:0011842 biolink:NamedThing Abnormality of skeletal morphology An abnormality of the form, structure, or size of the skeletal system. tmpaxzxjjyw_mondo_relaxed.owl Abnormally shaped skeletal UMLS:C4023165 peter 2012-05-07T08:08:37Z human_phenotype owl:Class MONDO:0016003 biolink:NamedThing ehrlichiosis Human ehrlichiosis and anaplasmosis describe a group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE). tmpaxzxjjyw_mondo_relaxed.owl human ehrlichiosis GARD:0002092|ICD9:082.4|ICD10:A77.4|MESH:D016873|SCTID:240626005|ICD10:A48.8|ICD9:082.40|ICD10:A77.40|UMLS:C0085399|Orphanet:1902|DOID:10242 owl:Class MONDO:0020124 biolink:NamedThing neuromuscular junction disease Conditions characterized by impaired transmission of impulses at the neuromuscular junction. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or acetylcholinesterase activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G70.8|SCTID:128213006|ICD10:G70.9|ICD10:G70.2|DOID:439|ICD10:G70.1|UMLS:C0751950|MESH:D020511|Orphanet:98491|ICD10:G70.0 owl:Class MONDO:0016830 biolink:NamedThing Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl EDMD|Humeroperoneal neuromuscular disease, (formerly)|Emery-Dreifuss muscular dystrophy|scapuloperoneal syndrome, X-linked (formerly) SCTID:111508004|OMIMPS:310300|GARD:0006329|OMIM:612999|OMIM:181350|OMIM:310300|NCIT:C84685|Orphanet:261|OMIM:614302|DOID:11726|UMLS:C0410189|OMIM:616516|ICD10:G71.0|OMIM:612998|MESH:D020389|OMIM:300696|SCTID:129620000 owl:Class NCBITaxon:44537 biolink:NamedThing Pyretophorus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:44534 biolink:NamedThing Cellia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0400002 biolink:NamedThing calcium-alkali syndrome The ingestion of excessive calcium supplementation or calcium containing antacids, and alkali resulting in a triad of hypercalcemia, metabolic alkalosis, and renal insufficiency. tmpaxzxjjyw_mondo_relaxed.owl milk-alkali syndrome owl:Class UBERON:0002285 biolink:NamedThing telencephalic ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007920 biolink:NamedThing lymphatic malformation 5 A frequent form of late-onset, primary lymphedema characterized by lower limb lymphedema typically developing during puberty. tmpaxzxjjyw_mondo_relaxed.owl late-onset primary lymphedema|hereditary lymphedema type II|lymphedema, late-onset|lymphedema, hereditary, II|Meige disease|late-onset lymphedema|LMPH2|lymphedema preacox|lymphedema praecox|lymphedema hereditary type 2|Meige lymphedema DOID:0070213|ICD10:Q82.0|OMIM:153200|Orphanet:90186|GARD:0003324|MESH:C562467|SCTID:400040008|MedDRA:10027138|GARD:3324 owl:Class MONDO:0000486 biolink:NamedThing craniofacial dystonia A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. tmpaxzxjjyw_mondo_relaxed.owl cranio-facial dystonia DOID:0050845|GARD:0010667|UMLS:C4023011 MONDO:0022885 https://rarediseases.info.nih.gov/diseases/10667/craniofacial-dystonia owl:Class UBERON:0001270 biolink:NamedThing bony pelvis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016958 biolink:NamedThing partial duplication of the long arm of chromosome 7 Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl 7q duplication|partial duplication of chromosome 7q|chromosome 7q duplication|partial trisomy 7q|partial duplication of the long arm of chromosome type 7|trisomy 7q|partial trisomy of chromosome 7q|Duplication 7q|7q trisomy|partial trisomy of the long arm of chromosome 7 GARD:0005357|Orphanet:262887|UMLS:C0795821|MESH:C537821 owl:Class MONDO:0023644 biolink:NamedThing lip and oral cavity carcinoma A carcinoma arising in the lip or oral cavity. Most oral cavity carcinomas are squamous cell carcinomas of the tongue, buccal mucosa, or gums. Less frequent morphologic variants include mucoepidermoid carcinoma and adenocarcinoma. Lip carcinomas are usually basal cell or squamous cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl oral cancer|oral carcinoma|lip and oral cavity cancer|lip and oral cavity carcinoma GARD:0009342|NCIT:C9315|UMLS:C0220641|GARD:0009360 https://rarediseases.info.nih.gov/diseases/9342/lip-and-oral-cavity-cancer owl:Class MONDO:0044643 biolink:NamedThing congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome Orphanet:495875 owl:Class MONDO:0044965 biolink:NamedThing abdominal and pelvic region disorder A disease or disorder that involves the abdominal segment of trunk. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of abdominal segment of trunk|abdominal segment of trunk disease|disorder of abdominal segment of trunk|abdominal segment of trunk disease or disorder|disease of abdominal segment of trunk 2022-04-01 SCTID:609618002|UMLS:C3661988 Reason: grouping class. Term to consider: none owl:Class MONDO:0008476 biolink:NamedThing spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). tmpaxzxjjyw_mondo_relaxed.owl spondyloepimetaphyseal dysplasia Strudwick type|dappled metaphysis syndrome|spondyloepimetaphyseal dysplasia, Strudwick type|Semdc|spondylometaphyseal dysplasia|SEMD, Strudwick type|SMED type 1|Smed, Strudwick type|Strudwick syndrome|SmD|SEMDSTWK|spondyloepimetaphyseal dysplasia congenita, Strudwick type|Smed, type 1|SMED Strudwick type|spondylometaepiphyseal dysplasia congenita, Strudwick type ICD9:758.89|DOID:0080028|ICD10:Q77.7|SCTID:702350003|OMIM:184250|GARD:0000134|Orphanet:93346 https://rarediseases.info.nih.gov/diseases/134/spondyloepimetaphyseal-dysplasia-strudwick-type owl:Class MONDO:0000954 biolink:NamedThing Meckel diverticulum cancer A cancer involving a Meckel's diverticulum. tmpaxzxjjyw_mondo_relaxed.owl cancer of Meckel's diverticulum|malignant neoplasm of Meckel's diverticulum|malignant Meckel's diverticulum neoplasm|Meckel diverticulum cancer|Meckel's diverticulum cancer DOID:10152|ICD9:152.3|UMLS:C0153429|SCTID:187752007 owl:Class MONDO:0000955 biolink:NamedThing ileum cancer A malignant neoplasm involving the ileum tmpaxzxjjyw_mondo_relaxed.owl ileum cancer|malignant neoplasm of ileum|malignant ileum neoplasm|cancer of ileum ICD9:152.2|ICD10:C17.2|DOID:10153 owl:Class MONDO:0000926 biolink:NamedThing eye accommodation disease Disease that disrupts the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies. tmpaxzxjjyw_mondo_relaxed.owl disorder of accommodation ICD10:H52.5|DOID:10034|UMLS:C0152198|ICD9:367.5|SCTID:54552008 owl:Class GO:0010954 biolink:NamedThing positive regulation of protein processing Any process that increases the rate, frequency or extent of protein maturation by peptide bond cleavage. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of protein maturation by peptide bond cleavage owl:Class GO:1903319 biolink:NamedThing positive regulation of protein maturation Any process that activates or increases the frequency, rate or extent of protein maturation. tmpaxzxjjyw_mondo_relaxed.owl activation of protein maturation|upregulation of protein maturation|up-regulation of protein maturation|up regulation of protein maturation owl:Class MONDO:0010116 biolink:NamedThing thoracomelic dysplasia tmpaxzxjjyw_mondo_relaxed.owl 'thoraco-limb' dysplasia|thoracolimb dysplasia, Rivera type|Rivera-Perez-Salas syndrome|thoracomelic dysplasia|thoraco-limb dysplasia ICD10:Q77.2|OMIM:273740|UMLS:C1848863|GARD:0010612|Orphanet:1803|MESH:C564773 owl:Class MONDO:0014784 biolink:NamedThing severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. tmpaxzxjjyw_mondo_relaxed.owl hypotonia, infantile, with psychomotor retardation|IHPMR OMIM:616816|Orphanet:467176|UMLS:C4225196 owl:Class SO:0000248 biolink:NamedThing sequence_length_alteration A kind of kind of sequence alteration where the copies of a region present varies across a population. tmpaxzxjjyw_mondo_relaxed.owl sequence length alteration owl:Class SO:0001059 biolink:NamedThing sequence_alteration A sequence_alteration is a sequence_feature whose extent is the deviation from another sequence. tmpaxzxjjyw_mondo_relaxed.owl INSDC_feature:variation|sequence alteration|uncharacterised_change_in_nucleotide_sequence|partially characterised change in DNA sequence|INSDC_feature:misc_feature|partially_characterised_change_in_DNA_sequence|sequence variation|INSDC_note:sequence_alteration owl:Class CL:0002067 biolink:NamedThing type A enteroendocrine cell An enteroendocrine cell that produces glucagon. tmpaxzxjjyw_mondo_relaxed.owl FMA:62939 tmeehan 2010-09-10T10:48:54Z cell owl:Class MONDO:0021326 biolink:NamedThing malignant neoplasm of cervical esophagus A cancer that involves the cervical part of esophagus. tmpaxzxjjyw_mondo_relaxed.owl malignant cervical part of esophagus neoplasm|malignant neoplasm of the cervical esophagus|cancer of cervical part of esophagus|malignant neoplasm of cervical part of esophagus|cervical part of esophagus cancer SCTID:187722004|NCIT:C4763|ICD9:150.0|UMLS:C0496773 owl:Class MONDO:0008965 biolink:NamedThing CHARGE syndrome CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's). tmpaxzxjjyw_mondo_relaxed.owl coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association|CHARGE syndrome|Hall-Hittner syndrome|CHARGE association|coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association|coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies MedDRA:10064063|OMIM:214800|ICD9:759.89|GARD:0000029|ICD10:Q89.8|UMLS:C0265354|Orphanet:138|NCIT:C75100|MESH:D058747|ICD10:Q87.8|SCTID:47535005|DOID:0050834 owl:Class MONDO:0020237 biolink:NamedThing lens shape anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98655 owl:Class MONDO:0006939 biolink:NamedThing pyelonephritis An inflammatory process affecting the kidney. The cause is most often bacterial, but may also be fungal in nature. Signs and symptoms may include fever, chills, flank pain, painful and frequent urination, cloudy or bloody urine, and confusion. tmpaxzxjjyw_mondo_relaxed.owl kidney infection|pyometrium DOID:11400|NCIT:C34965|ICD9:590.80|ICD10:N12|MedDRA:10037596|GARD:0012020|UMLS:C0034186|ICD10:N10-N16|EFO:1001141|MESH:D011704|ICD10:N16|SCTID:45816000 owl:Class MONDO:0019994 biolink:NamedThing maternal uniparental disomy of chromosome 13 Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpaxzxjjyw_mondo_relaxed.owl UPD(13)mat|maternal uniparental disomy of chromosome type 13 Orphanet:97678|ICD10:Q99.8|UMLS:CN036719 owl:Class MONDO:0009477 biolink:NamedThing Stromme syndrome An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016). tmpaxzxjjyw_mondo_relaxed.owl apple peel syndrome with microcephaly and ocular anomalies|apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome|primary ciliary dyskinesia 31|jejunal atresia-microcephaly-ocular anomalies syndrome|Stromme syndrome|STROMS|lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome|ciliary dyskinesia, primary, type 31|ciliary dyskinesia, primary, 31|jejunal atresia with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|CILD31 MESH:C565460|Orphanet:506307|EFO:0009160|Orphanet:444069|OMIM:243605|ICD10:Q87.8|DOID:0110595|UMLS:CN237682|OMIM:616369 owl:Class MONDO:0022409 biolink:NamedThing nephropathy-associated ciliopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156162 owl:Class HGNC:28249 biolink:NamedThing PHYKPL tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011029 biolink:NamedThing Internal hemorrhage The presence of hemorrhage within the body. tmpaxzxjjyw_mondo_relaxed.owl Internal haemorrhage|Internal bleeding UMLS:C1390214 peter 2011-03-03T10:26:26Z human_phenotype owl:Class HP:0001892 biolink:NamedThing Abnormal bleeding An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. tmpaxzxjjyw_mondo_relaxed.owl Hemorrhagic diathesis|Bleeding diathesis|Bleeding tendency SNOMEDCT_US:248250000|UMLS:C1458140|SNOMEDCT_US:64779008 This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. HP:0004834|HP:0004849|HP:0004865|HP:0004830|HP:0004862|HP:0008183 human_phenotype owl:Class MONDO:0036482 biolink:NamedThing retinitis pigmentosa 81 tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 81|RP81 UMLS:CN802781|OMIM:617871|DOID:0080292 owl:Class MONDO:0019886 biolink:NamedThing distal trisomy 13q Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. tmpaxzxjjyw_mondo_relaxed.owl telomeric duplication 13q|trisomy 13qter|distal trisomy type 13q|distal duplication 13q Orphanet:96105|ICD10:Q92.3|SCTID:764454003 owl:Class HGNC:9829 biolink:NamedThing RAF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010324 biolink:NamedThing membrane invagination The infolding of a membrane. tmpaxzxjjyw_mondo_relaxed.owl single-organism membrane invagination owl:Class UBERON:0010294 biolink:NamedThing scleral endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005599 biolink:NamedThing common dorsal aorta tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032591 biolink:NamedThing hyperparathyroidism, transient neonatal tmpaxzxjjyw_mondo_relaxed.owl hyperparathyroidism, transient neonatal|HRPTTN OMIM:618188 owl:Class GO:0016595 biolink:NamedThing glutamate binding Binding to glutamate, the anion of 2-aminopentanedioic acid. tmpaxzxjjyw_mondo_relaxed.owl glutamic acid binding owl:Class MONDO:0002892 biolink:NamedThing skull base chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the base of the skull. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells.. tmpaxzxjjyw_mondo_relaxed.owl chordoma of the skull base|chordoma of skull base|skull base chordoma DOID:4151|UMLS:C1335975|NCIT:C5453 owl:Class MONDO:0100365 biolink:NamedThing mucopolysaccharidosis or mucopolysaccharidosis-like disorder Any disease that presents as a mucopolysaccharidosis or mucopolysaccharidosis-like disorder. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3785 owl:Class MONDO:0010313 biolink:NamedThing intellectual disability, X-linked 63 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene. tmpaxzxjjyw_mondo_relaxed.owl MRX63|mental retardation, X-linked type 63|mental retardation, X-linked 68|mental retardation, X-linked 63|non-syndromic X-linked intellectual disability caused by mutation in ACSL4|intellectual disability, X-linked 63|ACSL4 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 68|ACSL4-related intellectual disability|intellectual disability, X-linked type 63 GARD:0005613|MESH:C564522|UMLS:C1845672|OMIM:300387 owl:Class MONDO:0001851 biolink:NamedThing primary lacrimal atrophy tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155229|DOID:1399|ICD9:375.13|SCTID:17093002 owl:Class MONDO:0015002 biolink:NamedThing developmental and epileptic encephalopathy, 49 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene. tmpaxzxjjyw_mondo_relaxed.owl DENND5A early infantile epileptic encephalopathy|DEE49|EIEE49|epileptic encephalopathy, early infantile, type 49|early infantile epileptic encephalopathy caused by mutation in DENND5A|epileptic encephalopathy, early infantile, 49; EIEE49|epileptic encephalopathy, early infantile, 49 OMIM:617281|DOID:0080441|UMLS:C4310635 owl:Class MONDO:0021528 biolink:NamedThing benign neoplasm of male breast A non-metastasizing neoplasm that arises from the breast parenchyma in males. tmpaxzxjjyw_mondo_relaxed.owl male breast benign neoplasm|benign neoplasm of the Male breast|benign Male breast tumor|benign Male breast neoplasm|benign tumor of Male breast|benign tumor of the Male breast UMLS:C0347482|NCIT:C4620|SCTID:92206006 owl:Class MONDO:0007652 biolink:NamedThing gastric mucosal hypertrophy MC)nC)trier disease (MD) is a rare premalignant hyperproliferative gastropathy characterized by massive overgrowth of foveolar cells in the gastric lining, resulting in large gastric folds, and manifesting with epigastric pain, nausea, vomiting, peripheral edema and, less commonly, anorexia and weight loss. tmpaxzxjjyw_mondo_relaxed.owl giant hypertrophy of the gastric mucosa|gastritis, familial giant hypertrophic|giant hypertrophic gastritis|familial giant hypertrophic gastritis|Menetrier disease|Menetrier's disease|giant rugal hypertrophy of stomach|Gastroenteropathy, protein losing|hypertrophic gastritis|Ménétrier disease|hypoproteinemic hypertrophic gastropathy|hypertrophic gastropathy|MENETRIER disease|giant hypertrophic gastropathy OMIM:137280|GARD:0002436|NCIT:C67277|Orphanet:2494|ICD10:K29.6|MESH:D005758|UMLS:C0017155|EFO:1000946|ICD9:535.20|ICD9:535.2|ICD9:535.21|DOID:8757|SCTID:60002000|MedDRA:10017868|MedDRA:10017807 owl:Class HP:0000347 biolink:NamedThing Micrognathia Developmental hypoplasia of the mandible. tmpaxzxjjyw_mondo_relaxed.owl Mandibular micrognathia|Hypoplasia of mandible|Underdevelopment of lower jaw|Lower jaw hypoplasia|Robin mandible|Little mandible|Mandibular deficiency|Micrognathia of lower jaw|Decreased projection of lower jaw|Small mandible|Micromandible|Mandibular retrusion|Lower jaw deficiency|Deficiency of lower jaw|Hypotrophic mandible|Mandibular retrognathia|Hypoplasia of lower jaw|Decreased size of mandible|Hypotrophic lower jaw|Hypoplastic mandible condyle|Hypoplastic mandible|Decreased projection of mandible|Mandibular hypoplasia|Underdevelopment of mandible|Small jaw|Lower jaw retrusion|Small lower jaw|Little lower jaw|Severe hypoplasia of mandible|Retrusion of lower jaw|Decreased size of lower jaw MSH:D008844|UMLS:C0025990|Fyler:4163|UMLS:C0240295|SNOMEDCT_US:32958008|UMLS:C1857130 Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. HP:0005470|HP:0000345|HP:0000330|HP:0000210|HP:0002005|HP:0002674|HP:0004669|HP:0005460 human_phenotype owl:Class HP:0009118 biolink:NamedThing Aplasia/Hypoplasia of the mandible Absence or underdevelopment of the mandible. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4280401|UMLS:C4021371|UMLS:C3494426|UMLS:C4280261|UMLS:C4024589|MSH:D063173 2008-04-05T10:57:00Z human_phenotype owl:Class GO:0002644 biolink:NamedThing negative regulation of tolerance induction Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction. tmpaxzxjjyw_mondo_relaxed.owl downregulation of tolerance induction|down-regulation of tolerance induction|down regulation of tolerance induction|inhibition of tolerance induction owl:Class GO:1900076 biolink:NamedThing regulation of cellular response to insulin stimulus Any process that modulates the frequency, rate or extent of cellular response to insulin stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:30099 biolink:NamedThing diazynediium tmpaxzxjjyw_mondo_relaxed.owl HNNH(2+)|[HNNH](2+)|diazynediium owl:Class MONDO:0007318 biolink:NamedThing Alagille syndrome Alagille (AGS) syndrome is variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys. tmpaxzxjjyw_mondo_relaxed.owl Arteriohepatic dysplasia|Watson-Miller syndrome|Alagille-Watson syndrome|syndromic bile duct paucity|Cardiovertebral syndrome|paucity of interlobular bile ducts|hepatic ductular hypoplasia|Alagille syndrome|Watson Alagille syndrome|Hepatofacioneurocardiovertebral syndrome ICD10:Q44.7|GARD:0000804|UMLS:C0085280|OMIM:610205|ICD9:759.89|DOID:9245|Orphanet:52|OMIM:118450|MedDRA:10053870|NCIT:C35139|MESH:D016738|OMIMPS:118450|SCTID:31742004 owl:Class CL:0000853 biolink:NamedThing olfactory epithelial support cell Olfactory epithelial support cell is a columnar cell that extends from the epithelial free margin to the basement membrane of the olfactory epithelium. This cell type has a large, vertically, elongate, euchromatic nucleus, along with other nuclei, forms a layer superficial to the cell body of the receptor cell; sends long somewhat irregular microvilli into the mucus layer; at the base, with expanded end-feet containing numerous lamellated dense bodies resembling lipofuscin of neurons. tmpaxzxjjyw_mondo_relaxed.owl olfactory sustentacular cell|sustentaculocyte of olfactory epithelium|supporting cell of olfactory epithelium FMA:62302 cell owl:Class MONDO:0018119 biolink:NamedThing disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:352309|UMLS:CN227266 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited lipid metabolism disorder' MONDO_0002525 owl:Class MONDO:0018117 biolink:NamedThing disorder of phospholipids, sphingolipids and fatty acids biosynthesis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:352301|UMLS:CN227264 owl:Class MONDO:0019178 biolink:NamedThing auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome The association of auricular abnormalities and cleft lip with or without cleft palate has been described in two siblings. One sibling had postauricular pits, profound myopia, nystagmus and retinal pigment abnormalities. The second sibling was a fetus (gestational age: 23 weeks) with severe cleft lip, cleft palate and external ear abnormalities. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205748|Orphanet:77300|ICD10:Q87.0 owl:Class MONDO:0020661 biolink:NamedThing undifferentiated round cell sarcoma An undifferentiated soft tissue sarcoma characterized by the presence of uniform round or ovoid malignant cells with a high nuclear to cytoplasmic ratio. tmpaxzxjjyw_mondo_relaxed.owl undifferentiated round cell sarcoma NCIT:C121799 owl:Class MONDO:0030852 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities tmpaxzxjjyw_mondo_relaxed.owl NEDFASB OMIM:619103 owl:Class MONDO:0009113 biolink:NamedThing hemolytic anemia due to diphosphoglycerate mutase deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly. tmpaxzxjjyw_mondo_relaxed.owl bisphosphoglyceromutase deficiency|diphosphoglycerate mutase deficiency of erythrocyte|diphosphoglycerate phosphatase deficiency|bisphosphoglycerate mutase deficiency|BPGM deficiency|DPGM deficiency DOID:0111630|ICD10:D55.2|Orphanet:714|OMIM:222800|GARD:0001874|UMLS:C1291620|NCIT:C131638 owl:Class MONDO:0032596 biolink:NamedThing myasthenic syndrome, congenital, 23, presynaptic tmpaxzxjjyw_mondo_relaxed.owl CMS23|MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC OMIM:618197 owl:Class CHEBI:33582 biolink:NamedThing carbon group molecular entity tmpaxzxjjyw_mondo_relaxed.owl carbon group molecular entities|carbon group molecular entity owl:Class GO:0008206 biolink:NamedThing bile acid metabolic process The chemical reactions and pathways involving bile acids, a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine. tmpaxzxjjyw_mondo_relaxed.owl bile acid metabolism owl:Class MONDO:0001161 biolink:NamedThing schizoid personality disorder A disorder characterized by an enduring pattern of extreme social detachment and lack of involvement in interpersonal activities, coupled with emotional coldness. tmpaxzxjjyw_mondo_relaxed.owl SCTID:52954000|ICD10:F60.1|ICD9:301.2|ICD9:301.20|NCIT:C92631|MESH:D012557|DOID:10936 owl:Class MONDO:0014395 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 2 An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. tmpaxzxjjyw_mondo_relaxed.owl frontotemporal dementia and/or amyotrophic lateral sclerosis type 2|FTDALS2|frontotemporal dementia and/or amyotrophic lateral sclerosis 2 Orphanet:275872|OMIM:615911|UMLS:C4014648|DOID:0060214 owl:Class MONDO:0032860 biolink:NamedThing intellectual developmental disorder, autosomal recessive 72 tmpaxzxjjyw_mondo_relaxed.owl Mental Retardation, Autosomal Recessive 72|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72|MRT72 OMIM:618665 owl:Class MONDO:0013433 biolink:NamedThing primary sclerosing cholangitis Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure. tmpaxzxjjyw_mondo_relaxed.owl cholangitis, primary sclerosing|PSC OMIM:613806|GARD:0001280|DOID:0060643|UMLS:C0566602|Orphanet:171|MedDRA:10036732|OMIM:602114|ICD10:K83.0|SCTID:197441003 owl:Class MONDO:0018646 biolink:NamedThing sclerosing cholangitis A chronic, autoimmune inflammatory liver disorder characterized by narrowing and scarring of the lumen of the bile ducts. It is often seen in patients with ulcerative colitis. Signs and symptoms include jaundice, fatigue, and malabsorption. It may lead to cirrhosis and liver failure. tmpaxzxjjyw_mondo_relaxed.owl fibrosing cholangitis|primary sclerosing cholangitis (PSC)|sclerosing cholangitis|sclerosing cholangitis (disease)|Primary sclerosing cholangitis sclerosing cholangitis (disease) SCTID:235917005|Orphanet:447771|DOID:14268|UMLS:C0566602|EFO:0004268|NCIT:C4828|UMLS:C0008313|ICD10:K83.0|HP:0030991 owl:Class MONDO:0013577 biolink:NamedThing Lipedema Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of subcutaneous fat often in obese women. It is associated with hematoma, pain and may progress to secondary lymphedema which is known as lipolymphedema. tmpaxzxjjyw_mondo_relaxed.owl Lipedema (disease)|lipedema Lipedema (disease) Orphanet:77243|SCTID:234102003|ICD10:E65|MESH:D065134|HP:0100695|OMIM:614103|MedDRA:10063955 owl:Class UBERON:0015474 biolink:NamedThing axilla skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:291 biolink:NamedThing ADSL tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032270 biolink:NamedThing positive regulation of cellular protein metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. tmpaxzxjjyw_mondo_relaxed.owl up regulation of cellular protein metabolic process|activation of cellular protein metabolic process|upregulation of cellular protein metabolic process|positive regulation of cellular protein metabolism|stimulation of cellular protein metabolic process|up-regulation of cellular protein metabolic process owl:Class HGNC:5141 biolink:NamedThing HP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030072 biolink:NamedThing developmental and epileptic encephalopathy, 88 tmpaxzxjjyw_mondo_relaxed.owl DEE88|EIEE88|epileptic encephalopathy, early infantile, 88|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 88 OMIM:618959 owl:Class UBERON:0003133 biolink:NamedThing reproductive organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000524 biolink:NamedThing exposure to mycotoxin An exposure to mycotoxin. tmpaxzxjjyw_mondo_relaxed.owl exposure to mycotoxin owl:Class ECTO:0000537 biolink:NamedThing exposure to toxin An exposure to toxin. tmpaxzxjjyw_mondo_relaxed.owl exposure to toxin owl:Class MONDO:0011633 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2C Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C|Charcot Marie Tooth disease type 2C|Charcot-Marie-Tooth disease type 2C|CMT2C|Charcot-Marie-Tooth neuropathy type 2C|hereditary motor and sensory neuropathy type IIc|HMSN 2 C|CMT 2C|HMSN 2C|hereditary motor and sensory neuropathy, type 2C|Charcot-Marie-Tooth disease, axonal, type 2C|HMSN2C|autosomal dominant Charcot-Marie-Tooth disease type 2C|TRPV4 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4|autosomal cominant axonal Charcot-Marie-Tooth disease type 2C|hereditary motor and sensory neuropathy 2 C|hereditary motor and sensory neuropathy, type IIC|Charcot-Marie-Tooth neuropathy, type 2C Orphanet:99937|OMIM:606071|ICD10:G60.0|DOID:0110182|GARD:0001250|SCTID:717010007 https://rarediseases.info.nih.gov/diseases/1250/charcot-marie-tooth-disease-type-2c owl:Class MONDO:0002316 biolink:NamedThing motor peripheral neuropathy Inflammation or degeneration of the peripheral motor nerves. tmpaxzxjjyw_mondo_relaxed.owl hereditary motor and sensory neuropathy|peripheral motor neuropathy|HSMN|neuropathic muscular atrophy|HSMN - hereditary sensory and motor neuropathy NCIT:C3500|DOID:2477|NCIT:C75467|ICD9:356.9|ICD10:G60.0|SCTID:95663000 owl:Class MONDO:0002329 biolink:NamedThing testicular disorder A non-neoplastic or neoplastic disorder affecting the testis. Representative examples include torsion, infarction, germ cell tumor, sex cord-stromal tumor, lymphoma, and leukemia. tmpaxzxjjyw_mondo_relaxed.owl disorder of testis|disease or disorder of testis|testicular disorder|testicular disease|testis disease or disorder|testis disease|testis disorder|disease of testis SCTID:64910008|ICD9:608.89|NCIT:C26890|MESH:D013733|DOID:2519|UMLS:C0039584 owl:Class MONDO:0018021 biolink:NamedThing hypotrichosis-deafness syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:H90.5|UMLS:CN204237|Orphanet:330029 owl:Class MONDO:0015775 biolink:NamedThing non-rhizomelic chondrodysplasia punctata Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q77.3|Orphanet:176 owl:Class HGNC:1040 biolink:NamedThing BFSP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4868 biolink:NamedThing HERC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0700012 biolink:NamedThing chromosome 5 disorder Chromosomal disorder in which chromosome 5 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class GO:0042327 biolink:NamedThing positive regulation of phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. tmpaxzxjjyw_mondo_relaxed.owl upregulation of phosphorylation|stimulation of phosphorylation|activation of phosphorylation|up regulation of phosphorylation|up-regulation of phosphorylation owl:Class MONDO:0043465 biolink:NamedThing achlorhydria Absence of hydrochloric acid in the gastric juice. tmpaxzxjjyw_mondo_relaxed.owl absent gastric acidity|achylia gastrica|gastric anacidity|achlorhydria|hypochlorhydria MESH:D000126|SCTID:47481007|NCIT:C2850 owl:Class MONDO:0040732 biolink:NamedThing Pseudomonas aeruginosa infectious disease tmpaxzxjjyw_mondo_relaxed.owl infection due to Pseudomonas aeruginosa|infection caused by Pseudomonas aeruginosa SCTID:11218009|UMLS:C0276075 owl:Class OBO:CHR_9606-chr11q24 biolink:NamedThing 11q24 (Human) tmpaxzxjjyw_mondo_relaxed.owl 130900000 121300000 hg38 owl:Class MONDO:0018248 biolink:NamedThing intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. tmpaxzxjjyw_mondo_relaxed.owl Der(8)t(8;12) UMLS:CN204818|ICD10:Q87.8|Orphanet:369950 owl:Class GO:1902645 biolink:NamedThing tertiary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of tertiary alcohol. tmpaxzxjjyw_mondo_relaxed.owl tertiary alcohol anabolism|tertiary alcohol formation|tertiary alcohol biosynthesis|tertiary alcohol synthesis owl:Class NCBITaxon:6213 biolink:NamedThing Echinococcus vogeli tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032653 biolink:NamedThing cardiac-urogenital syndrome tmpaxzxjjyw_mondo_relaxed.owl CUGS|CARDIAC-UROGENITAL SYNDROME OMIM:618280 owl:Class GO:0050962 biolink:NamedThing detection of light stimulus involved in sensory perception The series of events in which a light stimulus is received by a cell and converted into a molecular signal as part of the sensory perception of light. tmpaxzxjjyw_mondo_relaxed.owl sensory detection of light stimulus|sensory transduction of light stimulus|sensory detection of light stimulus during sensory perception|sensory perception, sensory detection of light stimulus|sensory transduction of light stimulus during sensory perception|sensory perception, sensory transduction of light stimulus owl:Class UBERON:0005031 biolink:NamedThing mucosa of upper lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071072 biolink:NamedThing negative regulation of phospholipid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phospholipids. tmpaxzxjjyw_mondo_relaxed.owl inhibition of phospholipid biosynthetic process|negative regulation of phospholipid biosynthesis|down-regulation of phospholipid biosynthetic process|negative regulation of phospholipid formation|downregulation of phospholipid biosynthetic process|negative regulation of phospholipid anabolism|down regulation of phospholipid biosynthetic process|negative regulation of phospholipid synthesis owl:Class MONDO:0019704 biolink:NamedThing primary bone dysplasia with decreased bone density tmpaxzxjjyw_mondo_relaxed.owl primary osteodysplasia with decreased bone density|primary skeletal dysplasia with decreased bone density 2022-01-01 Orphanet:93446 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class MONDO:0015481 biolink:NamedThing coloboma of inferior eyelid Coloboma of inferior eyelid is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral, partial or full-thickness, variably sized defect of the inferior eyelid (ranging from a small notch to complete absence of the entire lid) which is usually triangular in shape (with base at eyelid margin) and located on the lateral third of the lid. It can occur isolated, associated with facial clefting or as part of a syndrome. tmpaxzxjjyw_mondo_relaxed.owl Inferior palpebral coloboma SCTID:763133008|ICD10:Q10.3|Orphanet:155889 Editor note: TODO axioms owl:Class UBERON:0005473 biolink:NamedThing sacral region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011676 biolink:NamedThing subdivision of organism along main body axis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004173 biolink:NamedThing adenocarcinoma of skene gland origin A rare adenocarcinoma arising from Skene gland. It presents as a periurethral or anterior vaginal submucosal mass. It is characterized by morphological features similar to prostate adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl paraurethral gland carcinoma|paraurethral gland adenocarcinoma|Skene gland carcinoma|adenocarcinoma of Skene gland|carcinoma of the paraurethral gland|carcinoma of paraurethral gland|carcinoma of Skene's gland|adenocarcinoma of Skene gland origin|carcinoma of Skene gland UMLS:C1527427|DOID:7284|NCIT:C39863 owl:Class MONDO:0011684 biolink:NamedThing vitiligo-associated multiple autoimmune disease susceptibility 1 tmpaxzxjjyw_mondo_relaxed.owl VAMAS1|vitiligo|systemic lupus erythematosus, vitiligo-related|vitiligo-associated multiple autoimmune disease susceptibility type 1|vitiligo-associated multiple autoimmune disease susceptibility 1 UMLS:C1847835|OMIM:606579 owl:Class MONDO:0011832 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 44 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene. tmpaxzxjjyw_mondo_relaxed.owl CCDC50 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness 44|autosomal dominant nonsyndromic deafness caused by mutation in CCDC50|deafness, autosomal dominant type 44|DFNA44|deafness, autosomal dominant 44|autosomal dominant deafness 44|autosomal dominant nonsyndromic deafness type 44 MESH:C564399|DOID:0110569|ICD10:H90.3|Orphanet:90635|UMLS:C1843895|OMIM:607453 owl:Class UBERON:0004402 biolink:NamedThing bone tissue of proximal epiphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002481 biolink:NamedThing bone tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:30492 biolink:NamedThing DNAAF3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007498 biolink:NamedThing mesoderm development The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009941 biolink:NamedThing Pygmy tmpaxzxjjyw_mondo_relaxed.owl Pygmy, African|Pygmy UMLS:C1849524|OMIM:265850 owl:Class MONDO:0013825 biolink:NamedThing congenital diarrhea 6 Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene. tmpaxzxjjyw_mondo_relaxed.owl chronic diarrhea due to guanylate cyclase 2C overactivity|DIAR6|diarrhea type 6|GUCY2C congenital diarrhea|diarrhea 6|congenital diarrhea type 6|congenital diarrhea caused by mutation in GUCY2C OMIM:614616|DOID:0060780|Orphanet:314373|ICD10:P78.3|UMLS:C3553270 owl:Class MONDO:0014925 biolink:NamedThing epilepsy, familial focal, with variable foci 3 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene. tmpaxzxjjyw_mondo_relaxed.owl FFEVF3|NPRL3 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci type 3|epilepsy, familial focal, with variable foci 3|epilepsy, familial focal, with variable foci 3; FFEVF3|epilepsy, familial focal, with variable foci caused by mutation in NPRL3 OMIM:617118|UMLS:C4310708 owl:Class MONDO:0014445 biolink:NamedThing Bardet-Biedl syndrome 17 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene. tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome type 17|LZTFL1 Bardet-Biedl syndrome|Bardet-Biedl syndrome 17|Bardet-Biedl syndrome caused by mutation in LZTFL1|BBS17 UMLS:C3714980|OMIM:615994|ICD10:Q87.89|DOID:0110139 owl:Class MONDO:0009400 biolink:NamedThing hyperprolinemia type 1 Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2). tmpaxzxjjyw_mondo_relaxed.owl proline oxidase deficiency|hyperprolinemia type 1|HPI|HYRPRO1|hyperprolinemia, type 1|PRODH hyperprolinemia|hyperprolinemia, type I|hyperprolinemia caused by mutation in PRODH SCTID:61071003|OMIM:239500|MedDRA:10058513|ICD10:E72.5|DOID:0080542|Orphanet:419|ICD9:270.8 owl:Class MONDO:0020159 biolink:NamedThing congenital entropion tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10014923|ICD10:Q10.2|SCTID:20392000|Orphanet:98568 owl:Class MONDO:0004250 biolink:NamedThing extrahepatic bile duct papillary adenoma An adenoma that arises from the extrahepatic bile ducts. It is characterized by the presence of a papillary growth pattern. tmpaxzxjjyw_mondo_relaxed.owl extrahepatic bile duct papillary adenoma|papillary adenoma of extrahepatic bile duct|papillary adenoma of the extrahepatic bile duct UMLS:C1333510|DOID:7503|NCIT:C5849 owl:Class MONDO:0002533 biolink:NamedThing papillary adenoma An adenoma characterized by the presence of papillary epithelial patterns. tmpaxzxjjyw_mondo_relaxed.owl papillary adenoma|glandular papilloma|papillary adenoma NOS (morphologic abnormality)|adenoma, papillary, benign NCIT:C79951|UMLS:C0205650|DOID:3172|MESH:D000236 owl:Class MONDO:0021177 biolink:NamedThing autoimmune hepatitis type 3 Autoimmune hepatitis characterized by the presence of antibodies to soluble liver or liver-pancreas antigens. tmpaxzxjjyw_mondo_relaxed.owl autoimmune hepatitis type 3 UMLS:C4303162|SCTID:721713007 owl:Class MONDO:0054780 biolink:NamedThing elliptocytosis 3 tmpaxzxjjyw_mondo_relaxed.owl elliptocytosis 3|anemia, perinatal hemolytic, fatal or near-fatal|EL3 OMIM:617948|MESH:C566678 owl:Class MONDO:0019924 biolink:NamedThing paternal uniparental disomy of chromosome 20 Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20. tmpaxzxjjyw_mondo_relaxed.owl paternal UPD20|paternal uniparental disomy of chromosome type 20|paternal UPD(20)|UPD(20)pat SCTID:715736008|Orphanet:96194|ICD10:Q99.8|UMLS:C4275028 owl:Class UBERON:0022350 biolink:NamedThing visceral serous membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:20193 biolink:NamedThing HFM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008994 biolink:NamedThing cleidocranial dysplasia, recessive form tmpaxzxjjyw_mondo_relaxed.owl cleidocranial dysplasia, recessive form|autosomal recessive form of cleidocranial dysostosis|cleidocranial dysplasia recessive form Orphanet:1452|GARD:0010623|OMIM:216330|UMLS:C1859080|MESH:C565843 https://rarediseases.info.nih.gov/diseases/10623/cleidocranial-dysplasia-recessive-form owl:Class MONDO:0014606 biolink:NamedThing intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation). tmpaxzxjjyw_mondo_relaxed.owl WHSUS|autosomal dominant mental retardation 37|autosomal dominant intellectual disability 37|mental retardation, autosomal dominant 37|MRD37|intellectual disability, autosomal dominant type 37|WHITE-Sutton syndrome|White-Sutton syndrome|intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome|mental retardation, autosomal dominant type 37|intellectual disability, autosomal dominant 37 OMIM:616364|EFO:0009079|DOID:0070067|Orphanet:468678 owl:Class UBERON:0010224 biolink:NamedThing right pupil tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016337 biolink:NamedThing syndrome associated with dilated cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN201167|Orphanet:217619 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 https://github.com/monarch-initiative/mondo/issues/324 owl:Class HGNC:24431 biolink:NamedThing KRT75 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012761 biolink:NamedThing chromosome 3q29 microduplication syndrome 3q29 microduplication is a chromosomal abnormality associated with variable clinical findings including mild or moderate intellectual deficit and microcephaly. tmpaxzxjjyw_mondo_relaxed.owl 3q29 microduplication syndrome|chromosome 3q29 DUPLICATION syndrome|microduplication 3Q29 syndrome|3q29 microduplication|trisomy 3q29 GARD:0010360|SCTID:717973004|OMIM:611936|Orphanet:251038|ICD10:Q92.3|DOID:0060459|MESH:C567626|UMLS:C2749873 https://rarediseases.info.nih.gov/diseases/10360/chromosome-3q29-microduplication-syndrome owl:Class MONDO:0009042 biolink:NamedThing craniotelencephalic dysplasia Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983. tmpaxzxjjyw_mondo_relaxed.owl craniotelencephalic dysplasia|Complex of anomalies involving the cranium and brain GARD:0001605|Orphanet:1528|OMIM:218670|MESH:C535597|ICD10:Q04.3|UMLS:C1857471|SCTID:715422002 https://rarediseases.info.nih.gov/diseases/1605/craniotelencephalic-dysplasia owl:Class MONDO:0020194 biolink:NamedThing congenital alacrima tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98604 owl:Class UBERON:0004227 biolink:NamedThing kidney pelvis smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0034150 biolink:NamedThing idiopathic gastroparesis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:558411 owl:Class UBERON:0006591 biolink:NamedThing transformed artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:71240 biolink:NamedThing eudicotyledons tmpaxzxjjyw_mondo_relaxed.owl Dicotyledoneae|eudicots|dicots|dicotyledons PMID:26724406|GC_ID:1|PMID:25249442 NCBITaxon:3399 ncbi_taxonomy owl:Class NCBITaxon:1437183 biolink:NamedThing Mesangiospermae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:25249442 ncbi_taxonomy owl:Class UBERON:0003057 biolink:NamedThing chordal neural plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021492 biolink:NamedThing benign neoplasm of major salivary gland A benign neoplasm that involves the major salivary gland. tmpaxzxjjyw_mondo_relaxed.owl benign Major salivary gland tumor|benign neoplasm of the Major salivary gland|benign tumor of the Major salivary gland|benign tumor of Major salivary gland|major salivary gland benign neoplasm|benign Major salivary gland neoplasm SCTID:92205005|ICD9:210.2|UMLS:C0496858|NCIT:C4771 owl:Class MONDO:0021460 biolink:NamedThing benign neoplasm of salivary gland A benign neoplasm that involves the saliva-secreting gland. tmpaxzxjjyw_mondo_relaxed.owl benign salivary gland tumor|benign tumor of the salivary gland|saliva-secreting gland benign neoplasm|benign tumor of salivary gland|salivary gland neoplasm, benign|benign salivary gland neoplasm|benign neoplasm of the salivary gland NCIT:C4600|UMLS:C0347206|SCTID:255154009 owl:Class MONDO:0019538 biolink:NamedThing Gaisbock syndrome Polycythemia that is caused by stress. tmpaxzxjjyw_mondo_relaxed.owl Gaisboeck's syndrome|Pseudopolycythaemia|stress erythrocytosis|polycythemia, emotional|Pseudopolycythemia|stress polycythemia|GaisböCK syndrome|Gaisbock's syndrome DOID:2838|UMLS:C2242785|GARD:0008402|NCIT:C27174|MedDRA:10042217|UMLS:CN206365|ICD10:D75.1|Orphanet:90041|SCTID:36874002|UMLS:C0541719|MedDRA:10053885 owl:Class MONDO:0016541 biolink:NamedThing acquired secondary polycythemia An instance of secondary polycythemia that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired secondary erythrocytosis|acquired secondary polycythemia Orphanet:238547|ICD10:D75.1|UMLS:C1318533 owl:Class MONDO:0009362 biolink:NamedThing growth delay-hydrocephaly-lung hypoplasia syndrome Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities. tmpaxzxjjyw_mondo_relaxed.owl game Friedman Paradice syndrome|hydrocephalus with associated malformations|game-Friedman-Paradice syndrome|retarded growth, hydrocephalus, micrognathia, intestinal malrotation, omphalocele, short lower limbs and foot deformities Orphanet:3035|MESH:C535406|OMIM:236640|UMLS:C1856052|SCTID:716198008|ICD10:Q87.8|GARD:0002427 owl:Class MONDO:0015222 biolink:NamedThing syndromic respiratory or mediastinal malformation A respiratory or mediastinal malformation that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic respiratory or mediastinal malformation|syndrome associated with respiratory or mediastinal malformation Orphanet:108995|UMLS:CN226638 owl:Class MONDO:0012408 biolink:NamedThing microphthalmia, isolated, with coloboma 3 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the VSX2 gene. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia, colobomatous, isolated 3|VSX2 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma type 3|microphthalmia, isolated, with coloboma 3|microphthalmia, cataracts, and iris abnormalities|MCOPCB3|microphthalmia, isolated, with coloboma caused by mutation in VSX2 UMLS:C1864721|Orphanet:98938|OMIM:610092 owl:Class MONDO:0012409 biolink:NamedThing isolated microphthalmia 2 Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia, isolated 2|VSX2 isolated microphthalmia|microphthalmia, isolated type 2|isolated microphthalmia type 2|isolated microphthalmia caused by mutation in VSX2|anophthalmia, clinical, isolated|MCOP2 OMIM:610093|UMLS:C1864720|ICD10:Q11.0|MESH:C566446|Orphanet:2542|DOID:0060839 owl:Class MONDO:0013225 biolink:NamedThing congenital generalized lipodystrophy type 4 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene. tmpaxzxjjyw_mondo_relaxed.owl Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy|congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1|CGL4|lipodystrophy, Berardinelli-Seip congenital, type 4, with muscular dystrophy|GCL4|Brunzell syndrome AGPAT2-related|generalized congenital lipodystrophy with myopathy|lipodystrophy, congenital generalized, type 4|BSCL4|Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy|generalized congenital lipodystrophy type 4|CAVIN1 congenital generalized lipodystrophy (disease) MESH:C567642|GARD:0010937|ICD10:E88.1|Orphanet:228429|OMIM:613327|DOID:0111138|UMLS:C2750069 owl:Class HGNC:7027 biolink:NamedThing MERTK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009486 biolink:NamedThing autosomal recessive Kenny-Caffey syndrome An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet. tmpaxzxjjyw_mondo_relaxed.owl KCS1|Kenny-Caffey syndrome, autosomal recessive|Kcs|Kenny-Caffey syndrome, type 1|Kenny-Caffey syndrome type 1 Orphanet:2333|Orphanet:93324|UMLS:C1855648|MESH:C537021|OMIM:244460|ICD10:Q87.1|NCIT:C130992|GARD:0008367 https://rarediseases.info.nih.gov/diseases/8367/kenny-caffey-syndrome-type-1 owl:Class MONDO:0018289 biolink:NamedThing congenital disorder of glycosylation with dilated cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl CDG with dilated cardiomyopathy 2022-03-01 Orphanet:371176|ICD10:E77.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: congenital disorder of glycosylation' MONDO_0015286 owl:Class MONDO:0044207 biolink:NamedThing specific granule deficiency 1 Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene. tmpaxzxjjyw_mondo_relaxed.owl CEBPE specific granule deficiency|lactoferrin-deficient neutrophils|specific granule deficiency caused by mutation in CEBPE|SGD1|neutrophil lactoferrin deficiency|specific granule deficiency 1 UMLS:C0398593|Orphanet:169142|OMIM:245480 owl:Class MONDO:0013788 biolink:NamedThing Usher syndrome type 3B Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene. tmpaxzxjjyw_mondo_relaxed.owl Usher syndrome type IIIB|HARS Usher syndrome|USHER syndrome, type IIIB|Usher syndrome caused by mutation in HARS|USH3B|Usher syndrome, type 3B ICD10:H35.5|Orphanet:231183|DOID:0110842|UMLS:C3281066|Orphanet:886|OMIM:614504 owl:Class GO:0045787 biolink:NamedThing positive regulation of cell cycle Any process that activates or increases the rate or extent of progression through the cell cycle. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of progression through cell cycle|positive regulation of cell cycle progression|up-regulation of progression through cell cycle|activation of progression through cell cycle|up regulation of progression through cell cycle|upregulation of progression through cell cycle|stimulation of progression through cell cycle owl:Class GO:0002087 biolink:NamedThing regulation of respiratory gaseous exchange by nervous system process A process carried out by the nervous system that is required for the proper control of respiratory gaseous exchange. This process occurs in the respiratory center of the brain in vertebrates. tmpaxzxjjyw_mondo_relaxed.owl regulation of respiratory gaseous exchange by neurological system process|neurological control of breathing owl:Class GO:0044065 biolink:NamedThing regulation of respiratory system process Any process that modulates the frequency, rate or extent of a respiratory system process, an organ system process carried out by any of the organs or tissues of the respiratory system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002702 biolink:NamedThing positive regulation of production of molecular mediator of immune response Any process that activates or increases the frequency, rate, or extent of the production of molecular mediator of immune response. tmpaxzxjjyw_mondo_relaxed.owl stimulation of production of molecular mediator of immune response|up regulation of production of molecular mediator of immune response|upregulation of production of molecular mediator of immune response|up-regulation of production of molecular mediator of immune response|activation of production of molecular mediator of immune response owl:Class MONDO:0012805 biolink:NamedThing childhood onset GLUT1 deficiency syndrome 2 Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities. tmpaxzxjjyw_mondo_relaxed.owl PxMD-SLC2A1|DYT18|dystonia 18|GLUT1 deficiency syndrome type 2|GLUT1DS2|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia|childhood onset GLUT1 deficiency syndrome 2|ped|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia|paroxysmal exertion-induced dyskinesia|GLUT1 deficiency syndrome 2|DYT-SLC2A1|paroxysmal exercise-induced dystonia|ped with or without epilepsy and/or hemolytic Anemia|childhood onset GLUT1 deficiency syndrome type 2 GARD:0010541|ICD10:G24.8|Orphanet:98811|OMIM:612126|MESH:C564288|SCTID:724072002|DOID:0090045|UMLS:C1842534 owl:Class CHEBI:28112 biolink:NamedThing nickel atom Chemical element (nickel group element atom) with atomic number 28. tmpaxzxjjyw_mondo_relaxed.owl Ni|nickel|niquel|28Ni|niccolum|Nickel|Raney alloy owl:Class CHEBI:33362 biolink:NamedThing nickel group element atom tmpaxzxjjyw_mondo_relaxed.owl group 10 elements|nickel group element|nickel group elements owl:Class MONDO:0016015 biolink:NamedThing phenobarbital embryopathy A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases. tmpaxzxjjyw_mondo_relaxed.owl phenobarbital antenatal exposure GARD:0004315|UMLS:C4275281|Orphanet:1919|SCTID:715431002|ICD10:Q86.8 owl:Class MONDO:0015323 biolink:NamedThing teratogenic Pierre Robin syndrome tmpaxzxjjyw_mondo_relaxed.owl teratogenic Pierre Robin sequence UMLS:CN199294|Orphanet:138059 owl:Class GO:0045655 biolink:NamedThing regulation of monocyte differentiation Any process that modulates the frequency, rate or extent of monocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034978 biolink:NamedThing paraganglion (generic) tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004443 biolink:NamedThing proximal epiphysis of proximal phalanx of manual digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011977 biolink:NamedThing epiphysis of proximal phalanx of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009686 biolink:NamedThing musk, inability to smell tmpaxzxjjyw_mondo_relaxed.owl musk, inability to smell MESH:C564980|OMIM:254150|UMLS:C1850807 owl:Class MONDO:0008451 biolink:NamedThing neuronopathy, distal hereditary motor, type 1 An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, spinal, 1|distal hereditary motor neuronopathy type I|HMN 1|neuropathy, distal hereditary motor, type 1|HMN1|autosomal dominant distal juvenile spinal muscular atrophy type 1|spinal muscular atrophy, distal, juvenile, autosomal dominant, 1|neuronopathy, distal hereditary motor, type I|dHMN1|Charcot-Marie-Tooth disease, spinal, I NCIT:C132826|ICD10:G12.2|OMIM:182960|MESH:C566675|Orphanet:139518|UMLS:C1866784|DOID:0111200 owl:Class OBO:CHR_9606-chr8p1 biolink:NamedThing 8p1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 45200000 29000000 hg38 owl:Class MONDO:0016202 biolink:NamedThing autosomal dominant rhegmatogenous retinal detachment Autosomal dominant form of rhegmatogenous retinal detachment. tmpaxzxjjyw_mondo_relaxed.owl rhegmatogenous retinal detachment, autosomal dominant ICD10:H33.0|OMIM:609508|Orphanet:209867|UMLS:C1836081 owl:Class MONDO:0022884 biolink:NamedThing craniofacial dysostosis arthrogryposis progeroid appearence tmpaxzxjjyw_mondo_relaxed.owl Van Biervliet Hendrickx Van Ertbruggen syndrome GARD:0001573 https://rarediseases.info.nih.gov/diseases/1573/craniofacial-dysostosis-arthrogryposis-progeroid-appearence owl:Class MONDO:0023214 biolink:NamedThing gas bloat syndrome tmpaxzxjjyw_mondo_relaxed.owl post-fundoplication syndrome UMLS:C2930966|MESH:C535647|GARD:0006484 https://rarediseases.info.nih.gov/diseases/6484/gas-bloat-syndrome owl:Class HGNC:39433 biolink:NamedThing PRSS56 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2244 biolink:NamedThing COQ7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003494 biolink:NamedThing respiratory system venule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000624 biolink:NamedThing benign female reproductive system neoplasm A non-metastasizing neoplasm that arises from the female reproductive system. Representative examples include uterine corpus leiomyoma, endocervical polyp, and benign ovarian germ cell tumor. tmpaxzxjjyw_mondo_relaxed.owl benign gynecologic tumor|benign female reproductive system neoplasm|benign female reproductive system tumor|female reproductive organ benign neoplasm|benign gynecologic neoplasm UMLS:C0744514|NCIT:C4934|DOID:0060086 owl:Class MONDO:0016605 biolink:NamedThing perinatal lethal hypophosphatasia A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization in utero due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth. tmpaxzxjjyw_mondo_relaxed.owl perinatal lethal Rathburn disease|perinatal lethal phosphoethanolaminuria ICD10:E83.3|UMLS:C2673477|OMIM:241500|Orphanet:247623 owl:Class MONDO:0018570 biolink:NamedThing hypophosphatasia Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia). tmpaxzxjjyw_mondo_relaxed.owl Rathburn disease|hypophosphatasia mild|deficiency of alkaline phosphatase (disorder) [ambiguous]|childhood hypophosphatasia|HPP|hypophospatasia, childhood|deficiency of alkaline phosphatase|phosphoethanol-aminuria|phosphoethanolaminuria ICD9:277.6|MESH:D007014|UMLS:C0220743|GARD:0006734|SCTID:360792001|UMLS:C0020630|ICD10:E83.39|DOID:14213|MESH:C562440|ICD10:E83.3|SCTID:30174008|OMIM:146300|NCIT:C26798|OMIM:241500|MedDRA:10049933|OMIM:241510|Orphanet:436 owl:Class HGNC:18423 biolink:NamedThing DEPDC5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020989 biolink:NamedThing hereditary persistence of fetal hemoglobin The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin. tmpaxzxjjyw_mondo_relaxed.owl HPFH - Hereditary persistence of fetal hemoglobin|Hereditary persistence of fetal hemoglobin|hereditary persistence of fetal hemoglobin|Hemoglobin F Disease|HEREDITARY PERSISTENCE of FETAL HEMOGLOBIN|Hb F disease|Hereditary Persistence of Fetal Hemoglobin|HEMOGLOBIN F DIS|Disease, Hemoglobin F ICD9:282.7|NCIT:C129072|UMLS:C0019025|SCTID:191201002 owl:Class MONDO:0012379 biolink:NamedThing asthma-related traits, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl ASRT3|asthma-related traits, susceptibility to, 3|asthma-related traits, susceptibility to, type 3 OMIM:609958 owl:Class MONDO:0002719 biolink:NamedThing conus medullaris neoplasm A neoplasm (disease) that involves the conus medullaris. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the conus medullaris|tumor of conus medullaris|conus medullaris tumor|conus medullaris neoplasm|tumor of the conus medullaris|neoplasm of conus medullaris|conus medullaris neoplasm (disease) UMLS:C1333153|DOID:3641|NCIT:C5443 owl:Class UBERON:0005033 biolink:NamedThing mucosa of gallbladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:28093 biolink:NamedThing BBIP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004709 biolink:NamedThing occipital lobe neoplasm A neoplasm involving a occipital lobe. tmpaxzxjjyw_mondo_relaxed.owl occipital lobe neoplasm|tumor of the occipital lobe|occipital lobe neoplasm (disease)|malignant neoplasm of occipital lobe|occipital lobe tumor|neoplasm of occipital lobe|neoplasm of the occipital lobe|tumor of occipital lobe UMLS:C1263889|SCTID:126957005|NCIT:C5574|ICD9:191.4|ICD10:C71.4|UMLS:C0153638|DOID:910 owl:Class GO:0046005 biolink:NamedThing positive regulation of circadian sleep/wake cycle, REM sleep Any process that activates or increases the duration or quality of rapid eye movement (REM) sleep. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of circadian sleep/wake cycle, REM sleep|stimulation of circadian sleep/wake cycle, REM sleep|activation of circadian sleep/wake cycle, REM sleep|positive regulation of REM sleep|upregulation of circadian sleep/wake cycle, REM sleep|up regulation of circadian sleep/wake cycle, REM sleep owl:Class CHEBI:26020 biolink:NamedThing phosphate Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom. tmpaxzxjjyw_mondo_relaxed.owl phosphates owl:Class CHEBI:26079 biolink:NamedThing phosphoric acid derivative tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004933 biolink:NamedThing hypoplastic left heart syndrome Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis. tmpaxzxjjyw_mondo_relaxed.owl HLHS ICD9:746.7|NCIT:C98894|UMLS:C0152101|SCTID:62067003|GARD:0006739|MedDRA:10021076|Orphanet:2248|OMIMPS:241550|MESH:D018636|OMIM:241550|ICD10:Q23.4|DOID:9955|OMIM:614435 prototype_pattern owl:Class HGNC:12582 biolink:NamedThing UQCRB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014031 biolink:NamedThing microcephalic primordial dwarfism, Alazami type Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety. tmpaxzxjjyw_mondo_relaxed.owl ALAZS|facial dysmorphism, intellectual disability, and primordial dwarfism|Alazami syndrome UMLS:C3554439|OMIM:615071|Orphanet:319671|ICD10:Q87.1 owl:Class GO:0007420 biolink:NamedThing brain development The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015380 biolink:NamedThing facial dermoid cyst Facial dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue, which usually manifests as a firm, nonpulsatile mass, often with a sinus opening or a hair-bearing punctum, most commonly located in the periorbital and nasal area. tmpaxzxjjyw_mondo_relaxed.owl dermoid cyst of the face ICD10:Q18.8|SCTID:763220008|Orphanet:141051 owl:Class GO:2000225 biolink:NamedThing negative regulation of testosterone biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of testosterone biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015243 biolink:NamedThing allergic bronchopulmonary aspergillosis Allergic bronchopulmonary aspergillosis (ABPA) is a rare immunologic pulmonary disorder caused by hypersensitivity to Aspergillus fumigatus, clinically manifesting with poorly controlled asthma and recurrent pulmonary infiltrates. tmpaxzxjjyw_mondo_relaxed.owl Hinson-Pepys disease|pulmonary aspergillus disease|allergic aspergillosis|ABPA|allergic bronchopulmonary mycosis|aspergillosis, allergic bronchopulmonary|allergic bronchopulmonary aspergillosis, familial MedDRA:10006474|ICD9:518.6|EFO:0007140|UMLS:C0004031|ICD10:B44.81|OMIM:103920|NCIT:C84547|Orphanet:1164|SCTID:37981002|MESH:D001229|GARD:0000602|ICD10:J99.8*|DOID:13166|ICD10:B44.1+ https://rarediseases.info.nih.gov/diseases/602/allergic-bronchopulmonary-aspergillosis owl:Class MONDO:0016798 biolink:NamedThing ataxia neuropathy spectrum tmpaxzxjjyw_mondo_relaxed.owl Orphanet:254818|UMLS:C3683791 owl:Class MONDO:0016797 biolink:NamedThing multiple mitochondrial DNA deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl multiple mtDNA deletion syndrome Orphanet:254807|UMLS:CN202053 owl:Class MONDO:0007941 biolink:NamedThing malocclusion due to protuberant upper front teeth tmpaxzxjjyw_mondo_relaxed.owl malocclusion due to protuberant upper front teeth OMIM:154300 owl:Class MONDO:0021582 biolink:NamedThing lentigo A flat, benign, pigmented spot on the skin caused by excessive deposition of melanin from an increased number of melanocytes in the cell layer directly above the basement membrane of the epidermis. Formation is usually related to sun exposure during youth, and the lesions do not typically progress to malignancy. tmpaxzxjjyw_mondo_relaxed.owl lentigo|lentigines|lentiginosis NCIT:C3159|OMIM:150900|SCTID:402624000|MESH:D007911 Excluded benign neoplasm as a subclass because NCIT classifies as non-neoplastic. https://github.com/monarch-initiative/mondo/issues/3692 owl:Class GO:0048259 biolink:NamedThing regulation of receptor-mediated endocytosis Any process that modulates the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. tmpaxzxjjyw_mondo_relaxed.owl regulation of receptor mediated endocytosis owl:Class GO:0016021 biolink:NamedThing integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpaxzxjjyw_mondo_relaxed.owl transmembrane|integral to membrane owl:Class GO:2000294 biolink:NamedThing positive regulation of defecation Any process that activates or increases the frequency, rate or extent of defecation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001644 biolink:NamedThing acute proliferative glomerulonephritis Inflammation of the glomeruli status post infection with nephritogenic streptococci, most often group A beta hemolytic streptococcus. tmpaxzxjjyw_mondo_relaxed.owl proliferative glomerulonephritis, acute|acute glomerulonephritis with lesion of proliferative glomerulonephritis|post-streptococcal glomerulonephritis NCIT:C35443|UMLS:C0403414|DOID:13138|SCTID:197579006|ICD9:580.0|UMLS:C0341692 owl:Class MONDO:0003134 biolink:NamedThing proliferative glomerulonephritis A constellation of renal disorders characterized by an increase number of cells in the glomerulus; these disorders generally present with nephrotic syndrome, and generally progress to end stage renal failure over a matter of weeks to years, depending on the etiology. Examples include IgA nephropathy, membranoproliferative glomerulonephritis, and rapidly progressive glomerulonephritis. tmpaxzxjjyw_mondo_relaxed.owl SCTID:441815006|DOID:4778|ICD9:583.0|NCIT:C35281|UMLS:C0235618 owl:Class MONDO:0013578 biolink:NamedThing DYRK1A-related intellectual disability syndrome An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal dominant type 7|autosomal dominant mental retardation 7|mental retardation, autosomal dominant 7|MRD7|autosomal dominant intellectual disability 7|intellectual disability, autosomal dominant 7|autosomal dominant non-syndromic intellectual disability 7|mental retardation, autosomal dominant type 7 Orphanet:464306|UMLS:C3279839|DOID:0070037|OMIM:614104 owl:Class MONDO:0013449 biolink:NamedThing Leber congenital amaurosis 7 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene. tmpaxzxjjyw_mondo_relaxed.owl Leber congenital amaurosis type 7|Leber congenital amaurosis caused by mutation in CRX|Leber congenital amaurosis 7|LCA7|CRX Leber congenital amaurosis GARD:0010880|OMIM:613829|DOID:0110333|Orphanet:65|UMLS:C3151192|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10880/leber-congenital-amaurosis-7 owl:Class MONDO:0018998 biolink:NamedThing Leber congenital amaurosis Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life. tmpaxzxjjyw_mondo_relaxed.owl congenital retinal blindness|Leber's congenital amaurosis|Leber's amaurosis|LCA|Leber congenital amaurosis|Leber's congenital tapetoretinal dysplasia|congenital absence of the rods and cones|amaurosis congenita of Leber|Leber's congenital tapetoretinal degeneration|Leber's disease OMIM:610612|OMIM:613341|ICD10:H35.5|OMIM:204000|MESH:D057130|MedDRA:10070667|UMLS:C0339527|OMIM:614186|GARD:0000634|OMIM:613837|SCTID:193413001|OMIM:613829|OMIM:608553|OMIM:604393|OMIM:612712|OMIM:613835|DOID:14791|OMIM:179900|OMIM:613826|Orphanet:65|OMIMPS:204000|OMIM:204100|OMIM:613843|OMIM:604232|OMIM:604537|NCIT:C129075|OMIM:611755|OMIM:615360 owl:Class MONDO:0006201 biolink:NamedThing ethmoid sinus adenoid cystic carcinoma An adenoid cystic carcinoma that affects the ethmoid sinus. tmpaxzxjjyw_mondo_relaxed.owl adenoid cystic carcinoma of the ethmoid sinus|adenoid cystic carcinoma of ethmoid sinus DOID:2764|UMLS:C1333473|EFO:1000246|NCIT:C6238 owl:Class MONDO:0006352 biolink:NamedThing paranasal sinus adenoid cystic carcinoma A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases. tmpaxzxjjyw_mondo_relaxed.owl paranasal sinus adenoid cystic carcinoma|adenoid cystic carcinoma of the accessory sinus|adenoid cystic carcinoma of paranasal sinus|accessory sinus adenoid cystic carcinoma|adenoid cystic carcinoma of the paranasal sinus|adenoid cystic carcinoma of accessory sinus NCIT:C6019|UMLS:C1335337|EFO:1000454 owl:Class MONDO:0011726 biolink:NamedThing peripheral arterial occlusive disease 1 tmpaxzxjjyw_mondo_relaxed.owl Paod1|peripheral arterial occlusive disease type 1|peripheral arterial occlusive disease 1 OMIM:606787|MESH:C564658|UMLS:C1847493 owl:Class MONDO:0004622 biolink:NamedThing chronic intestinal vascular insufficiency tmpaxzxjjyw_mondo_relaxed.owl chronic mesenteric ischemia|CMI - chronic mesenteric ischaemia DOID:8633|ICD9:557.1|SCTID:111354009|UMLS:C0311262 owl:Class UBERON:5106048 biolink:NamedThing digit 1 digitopodial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003586 biolink:NamedThing trunk connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006292 biolink:NamedThing shoulder joint primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003322 biolink:NamedThing mesenchyme of shoulder tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020165 biolink:NamedThing syndromic epicanthus tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227805|Orphanet:98574 owl:Class MONDO:0060578 biolink:NamedThing neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures tmpaxzxjjyw_mondo_relaxed.owl NEMMLAS|neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures Orphanet:572798|OMIM:617710|UMLS:C4540192 owl:Class MONDO:0013306 biolink:NamedThing combined oxidative phosphorylation defect type 7 Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 7|severe C12ORF65-related combined oxidative phosphorylation defect|combined oxidative phosphorylation deficiency caused by mutation in C12ORF65|severe C12ORF65-related COXPD|combined oxidative phosphorylation deficiency caused by mutation in C12orf65|COXPD7|combined oxidative phosphorylation deficiency 7|C12orf65 combined oxidative phosphorylation deficiency|C12ORF65 combined oxidative phosphorylation deficiency UMLS:C3150801|Orphanet:254930|ICD10:G31.8|OMIM:613559|SCTID:763204003|DOID:0111487 owl:Class MONDO:0044655 biolink:NamedThing c12orf65-related combined oxidative phosphorylation defect tmpaxzxjjyw_mondo_relaxed.owl C12ORF65-related COXPD Orphanet:497623 owl:Class MONDO:0005950 biolink:NamedThing Salmonella gastroenteritis Poisoning caused by ingestion of food harboring species of salmonella. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply. tmpaxzxjjyw_mondo_relaxed.owl Salmonella caused gastroenteritis MESH:D012478|SCTID:42338000|ICD9:003.0|EFO:0007475 owl:Class MONDO:0044997 biolink:NamedThing midbrain disorder A disease or disorder that involves the midbrain. tmpaxzxjjyw_mondo_relaxed.owl disorder of midbrain|disease or disorder of midbrain|midbrain disease or disorder|disease of midbrain|midbrain disease UMLS:C0521655|SCTID:95641009 owl:Class GO:1903284 biolink:NamedThing positive regulation of glutathione peroxidase activity Any process that activates or increases the frequency, rate or extent of glutathione peroxidase activity. tmpaxzxjjyw_mondo_relaxed.owl upregulation of glutathione:hydrogen-peroxide oxidoreductase activity|upregulation of glutathione peroxidase activity|upregulation of reduced glutathione peroxidase activity|activation of selenium-glutathione peroxidase activity|positive regulation of reduced glutathione peroxidase activity|up-regulation of reduced glutathione peroxidase activity|positive regulation of glutathione:hydrogen-peroxide oxidoreductase activity|up regulation of glutathione peroxidase activity|upregulation of selenium-glutathione peroxidase activity|up regulation of reduced glutathione peroxidase activity|up-regulation of non-selenium glutathione peroxidase activity|activation of glutathione:hydrogen-peroxide oxidoreductase activity|positive regulation of selenium-glutathione peroxidase activity|activation of non-selenium glutathione peroxidase activity|up regulation of glutathione:hydrogen-peroxide oxidoreductase activity|up regulation of GSH peroxidase activity|up regulation of selenium-glutathione peroxidase activity|upregulation of non-selenium glutathione peroxidase activity|positive regulation of GSH peroxidase activity|up regulation of non-selenium glutathione peroxidase activity|up-regulation of glutathione peroxidase activity|activation of glutathione peroxidase activity|up-regulation of GSH peroxidase activity|positive regulation of non-selenium glutathione peroxidase activity|up-regulation of selenium-glutathione peroxidase activity|up-regulation of glutathione:hydrogen-peroxide oxidoreductase activity|activation of reduced glutathione peroxidase activity|enhancement of GPX activity|upregulation of GSH peroxidase activity|activation of GSH peroxidase activity owl:Class GO:1903282 biolink:NamedThing regulation of glutathione peroxidase activity Any process that modulates the frequency, rate or extent of glutathione peroxidase activity. tmpaxzxjjyw_mondo_relaxed.owl regulation of non-selenium glutathione peroxidase activity|regulation of GSH peroxidase activity|regulation of selenium-glutathione peroxidase activity|regulation of reduced glutathione peroxidase activity|regulation of glutathione:hydrogen-peroxide oxidoreductase activity owl:Class MONDO:0009666 biolink:NamedThing holocarboxylase synthetase deficiency A life-threatening early-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism, that, if untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma. tmpaxzxjjyw_mondo_relaxed.owl multiple carboxylase deficiency, neonatal form|multiple carboxylase deficiency|HLCS deficiency|multiple carboxylase deficiency, early onset|early-onset multiple carboxylase deficiency|holocarboxylase synthetase deficiency|holocarboxylase synthase deficiency|neonatal multiple carboxylase deficiency|biotin-(propionyl-CoA-carboxylase) ligase deficiency|multiple carboxylase deficiency - neonatal onset MESH:D028922|NCIT:C98842|OMIM:253270|SCTID:15307001|Orphanet:79242|UMLS:C0268581|SCTID:360369003|ICD10:D81.818|ICD10:E53.8|DOID:859|GARD:0002721|ICD9:270.8 May occur as a secondary consequence of impaired biotinidase activity doi:10.1074/jbc.M806985200 https://rarediseases.info.nih.gov/diseases/2721/holocarboxylase-synthetase-deficiency owl:Class MONDO:0015454 biolink:NamedThing multiple carboxylase deficiency Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. tmpaxzxjjyw_mondo_relaxed.owl multiple carboxylase deficiency|MCD UMLS:C0026755|MESH:D009100|Orphanet:148|ICD10:D81.819|ICD10:D81.81|DOID:857|MedDRA:10028176|GARD:0003824|ICD10:E53.8 owl:Class MONDO:0001893 biolink:NamedThing spinal cord melanoma A melanoma (disease) that involves the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl melanoma of spinal cord|spinal cord melanoma|spinal cord melanoma (disease)|melanoma of the spinal cord|melanoma (disease) of spinal cord NCIT:C5158|UMLS:C1336045|DOID:14151 owl:Class MONDO:0016747 biolink:NamedThing primary melanoma of the central nervous system A melanoma that affects the central nervous system. It is characterized by pleomorphism, melanin pigmentation, a high mitotic rate, necrosis, and hemorrhage. It is a highly aggressive and radioresistant tumor. The prognosis is usually poor. tmpaxzxjjyw_mondo_relaxed.owl Central nervous system melanoma|primary melanoma of the CNS|CNS melanoma|melanoma of the Central nervous system|central nervous system melanoma|melanoma of CNS|primary CNS melanoma|melanoma (disease) of central nervous system|malignant melanoma of meninges|melanoma of central nervous system|central nervous system melanoma (disease)|melanoma of the CNS|primary meningeal melanoma GARD:0012016|ONCOTREE:PCNSM|Orphanet:252050|NCIT:C5505|UMLS:C0349626|UMLS:CN201994 https://rarediseases.info.nih.gov/diseases/12016/primary-melanoma-of-the-central-nervous-system owl:Class GO:0008228 biolink:NamedThing opsonization The process in which a microorganism (or other particulate material) is rendered more susceptible to phagocytosis by coating with an opsonin, a blood serum protein such as a complement component or antibody. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002252 biolink:NamedThing immune effector process Any process of the immune system that executes a component of an immune response. An effector immune process takes place after its activation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002351 biolink:NamedThing sinoatrial node tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003379 biolink:NamedThing cardiac muscle of right atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002406 biolink:NamedThing dermatitis An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis. tmpaxzxjjyw_mondo_relaxed.owl inflammation of skin|zone of skin inflammation|skin inflammation|inflammation of zone of skin|inflammatory skin disease|inflammation of the skin NCIT:C2983|SCTID:43116000|UMLS:C0011603|MESH:D003872|ICD9:692.9|ICD10:L30.9|DOID:2723|EFO:1000636 owl:Class GO:0042747 biolink:NamedThing circadian sleep/wake cycle, REM sleep A stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001793 biolink:NamedThing nerve fiber layer of retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014384 biolink:NamedThing hypotrichosis 12 Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene. tmpaxzxjjyw_mondo_relaxed.owl hypotrichosis caused by mutation in RPL21|hypotrichosis type 12|HYPT12|RPL21 hypotrichosis|hypotrichosis 12|hypt12 DOID:0110709|Orphanet:55654|UMLS:C4014563|OMIM:615885 owl:Class GO:0003842 biolink:NamedThing 1-pyrroline-5-carboxylate dehydrogenase activity Catalysis of the reaction: 1-pyrroline-5-carboxylate + NAD+ + H2O = L-glutamate + NADH + H(+). tmpaxzxjjyw_mondo_relaxed.owl L-pyrroline-5-carboxylate-NAD+ oxidoreductase activity|delta1-pyrroline-5-carboxylate dehydrogenase activity|1-pyrroline-5-carboxylate:NAD+ oxidoreductase activity|pyrroline-5-carboxylic acid dehydrogenase activity|1-pyrroline dehydrogenase|pyrroline-5-carboxylate dehydrogenase activity owl:Class GO:0016646 biolink:NamedThing oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces NAD or NADP. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015800 biolink:NamedThing acidic amino acid transport The directed movement of acidic amino acids, amino acids with a pH below 7, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006865 biolink:NamedThing amino acid transport The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19129 biolink:NamedThing PSAT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005397 biolink:NamedThing brain arachnoid mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030879 biolink:NamedThing mammary gland development The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages. tmpaxzxjjyw_mondo_relaxed.owl mammogenesis owl:Class GO:0048732 biolink:NamedThing gland development The process whose specific outcome is the progression of a gland over time, from its formation to the mature structure. A gland is an organ specialised for secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002119 biolink:NamedThing left ovary tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000992 biolink:NamedThing ovary tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35488 biolink:NamedThing central nervous system depressant A loosely defined group of drugs that tend to reduce the activity of the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl central nervous system depressants|CNS depressants owl:Class CHEBI:35470 biolink:NamedThing central nervous system drug A class of drugs producing both physiological and psychological effects through a variety of mechanisms involving the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl CNS agent|CNS drugs|central nervous system agents owl:Class MONDO:0004124 biolink:NamedThing prostate stromal sarcoma A rare malignant neoplasm arising from specialized prostatic stroma. It is characterized by the presence of stromal overgrowth and hypercellularity, increased number of mitotic figures, and pleomorphism. tmpaxzxjjyw_mondo_relaxed.owl prostate stromal sarcoma|stromal sarcoma of prostate|stromal sarcoma of the prostate NCIT:C5524|UMLS:C1335521|DOID:7152 owl:Class MONDO:0012622 biolink:NamedThing leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter. tmpaxzxjjyw_mondo_relaxed.owl LBSL|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation|leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation|leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation|leukoencephalopathy with brain stem and spinal cord involvement - high lactate|mitochondrial aspartyl-tRNA synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome SCTID:703537008|OMIM:611105|MESH:C567009|ICD10:E75.2|GARD:0012652|Orphanet:137898 owl:Class MONDO:0008971 biolink:NamedThing chondrodysplasia calcificans Metaphysealis tmpaxzxjjyw_mondo_relaxed.owl chondrodysplasia calcificans Metaphysealis UMLS:C1859147|GARD:0010613|MESH:C565855|OMIM:215050 https://rarediseases.info.nih.gov/diseases/10613/chondrodysplasia-calcificans-metaphysealis owl:Class MONDO:0009943 biolink:NamedThing Pyle disease Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning. tmpaxzxjjyw_mondo_relaxed.owl metaphyseal dysplasia|Pyl|Pyle-Cohn syndrome|chondrodysplasia calcificans metaphysealis|Pyle's disease|Pyle's syndrome|metaphyseal dysplasia, Pyle type|Pyle disease|Bakwin-Krida syndrome|metaphyseal dysplasia Pyle type GARD:0004612|DOID:0080019|OMIM:215050|SCTID:27837003|MESH:C536252|Orphanet:3005|ICD10:Q78.5|ICD9:758.5|OMIM:265900 owl:Class UBERON:0035845 biolink:NamedThing enthesis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030897 biolink:NamedThing Lessel-Kreienkamp syndrome tmpaxzxjjyw_mondo_relaxed.owl LESKRES OMIM:619149 owl:Class MONDO:0017544 biolink:NamedThing zygodactyly type 3 tmpaxzxjjyw_mondo_relaxed.owl syndactyly type 1, Montagu type|syndactyly type 1c|Zygodactyly, Montagu type|SD1c|SD1, Montagu type ICD10:Q70.2|ICD10:Q70.1|UMLS:CN203276|ICD10:Q70.0|ICD10:Q70.3|Orphanet:295191 owl:Class MONDO:0015622 biolink:NamedThing wound myiasis tmpaxzxjjyw_mondo_relaxed.owl traumatic myiasis ICD10:B87.1|ICD9:998.89|UMLS:C0344061|SCTID:240880004|Orphanet:165955 owl:Class MONDO:0020568 biolink:NamedThing cutaneous myiasis tmpaxzxjjyw_mondo_relaxed.owl ICD10:B87.0|SCTID:240877000|Orphanet:99983|UMLS:C0027031 owl:Class CL:0002481 biolink:NamedThing peritubular myoid cell The flattened smooth myoepithelial cells of mesodermal origin that lie just outside the basal lamina of the seminiferous tubule. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-12-03T03:11:48Z cell owl:Class MONDO:0019175 biolink:NamedThing primary lymphedema A congenital condition that results in swelling in the arms or legs, and can occur during adolescence or adulthood. Loss of motion and pain may also accompany the swelling. Protein-rich lymphatic fluid accumulates in tissues, engorging and enlarging vessels and often causing visible swelling, tenderness, and pain. Left untreated, the affected tissues may continue to swell, and can become hardened or fibrotic and susceptible to infection. tmpaxzxjjyw_mondo_relaxed.owl primary lymphedema|Troncular lymphatic malformation ICD10:I89.0|NCIT:C48829|Orphanet:77240 owl:Class MONDO:0020424 biolink:NamedThing intramural coronary arterial course Intramural coronary arterial course is a rare coronary artery congenital malformation disorder characterized by an atypical course of a coronary artery (usually proximal left anterior descending artery) in which, for a variable length, the artery runs intramyocardally. Depending on the artery and length of segment involved, patients may be asymptomatic or may present variable manifestations ranging from atypical angina to sudden death. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99088|ICD10:Q24.5 owl:Class MONDO:0019826 biolink:NamedThing abnormal origin or aberrant course of coronary artery tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q24.5|Orphanet:95493 owl:Class MONDO:0015464 biolink:NamedThing craniofrontonasal dysplasia-Poland anomaly syndrome Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far. tmpaxzxjjyw_mondo_relaxed.owl Webster-Deming syndrome UMLS:CN199598|SCTID:720757001|Orphanet:1521|ICD10:Q87.8 owl:Class MONDO:0016811 biolink:NamedThing renal tubulopathy-encephalopathy-liver failure syndrome Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in Gracile syndrome and that can be associated with encephalopathy and psychiatric disorders. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:254902|ICD10:E88.8|UMLS:CN202065|OMIM:124000 owl:Class GO:0051234 biolink:NamedThing establishment of localization Any process that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. tmpaxzxjjyw_mondo_relaxed.owl establishment of localisation owl:Class MONDO:0020920 biolink:NamedThing escherichia coli infection Infection with the organism Escherichia Coli. tmpaxzxjjyw_mondo_relaxed.owl Infection caused by Escherichia coli|Escherichia Coli Infection|INFECT ESCHERICHIA COLI|Colibacillosis|Infection due to Escherichia coli|Bacterial infection caused by E. coli|Infections, E coli|INFECT E COLI|E. coli Infections|Recurrent E. coli infections|Infection, E coli|E. coli infection|E. coli Infection|E coli Infection|e coli infection|ESCHERICHIA COLI INFECT|E Coli Infection|E coli Infections|Bacterial infection due to E. coli|Infections, Escherichia coli|Infection, E. coli|E coli infections|Escherichia coli Infection|Escherichia coli infection|Infection, Escherichia coli|Escherichia coli Infections|E coli infections, recurrent|E COLI INFECT|escherichia coli infection GTR:AN0474198|GTR:AN0485754|HP:0002740|UMLS:C0014836|NCIT:C34594|GTR:AN0485755|MESH:D004927|EFO:1001318|SCTID:71057007 owl:Class MONDO:0015252 biolink:NamedThing severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome tmpaxzxjjyw_mondo_relaxed.owl severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome|intellectual disability - athetosis - microphthalmia|intellectual disability-athetosis-microphthalmia syndrome|BD syndrome UMLS:CN237422|Orphanet:1236|GARD:0003482 https://rarediseases.info.nih.gov/diseases/3482/intellectual-disability---athetosis---microphthalmia owl:Class MONDO:0005357 biolink:NamedThing Creutzfeldt Jacob disease A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease. tmpaxzxjjyw_mondo_relaxed.owl Creutzfeldt-Jacob disease|CJD (Creutzfeldt Jakob disease)|CJD|Creutzfeldt-Jakob disease|Subacute spongiform encephalopathy|transmissible virus dementia|Jakob-Creutzfeldt disease|Creutzfeldt Jacob syndrome|Creutzfeldt Jakob disease|classic Creutzfeldt-Jakob disease EFO:0004226|ICD9:046.1|OMIM:123400|DOID:11949|NCIT:C26802|MESH:D007562|ICD9:046.19|SCTID:792004|ICD10:A81.0|ICD10:A81.00|GARD:0006956 owl:Class GO:0070914 biolink:NamedThing UV-damage excision repair A DNA repair process that is initiated by an endonuclease that introduces a single-strand incision immediately 5' of a UV-induced damage site. UV-damage excision repair acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs). tmpaxzxjjyw_mondo_relaxed.owl UV-damaged DNA endonuclease-dependent excision repair|alternative excision repair|AER|UVDE-dependent excision repair|UVER owl:Class GO:0034644 biolink:NamedThing cellular response to UV Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. tmpaxzxjjyw_mondo_relaxed.owl cellular response to UV light stimulus|cellular response to UV radiation stimulus|cellular response to ultraviolet light stimulus|cellular response to ultraviolet radiation stimulus owl:Class MONDO:0006051 biolink:NamedThing postweaning multisystemic wasting syndrome Pig disease caused by porcine circovirus type 2 (PCV2). Most representative symptoms include wasting, unthriftness, paleness of the skin, respiratory distress, diarrhea and sometimes icterus. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000048 owl:Class UBERON:0012054 biolink:NamedThing myocoele tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009119 biolink:NamedThing diverticulosis, small-intestinal tmpaxzxjjyw_mondo_relaxed.owl diverticulosis, small-intestinal MESH:C565620|OMIM:223320|UMLS:C1857228 owl:Class MONDO:0019036 biolink:NamedThing amoebiasis due to free-living amoebae Free-living amebae belonging to the genera Acanthamoeba, Balamuthia, Naegleria and Sappinia are important causes of disease in humans and animals. Naegleria fowleri produces an acute, and usually lethal, central nervous system (CNS) disease called primary amebic meningoencephalitis (PAM). Acanthamoeba spp. and Balamuthia mandrillaris are opportunistic free-living amebae capable of causing granulomatous amebic encephalitis (GAE) in individuals with compromised immune systems. Sappinia pedata has been implicated in a case of amebic encephalitis. Naegleria fowleri and Acanthamoeba spp., are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205519|GARD:0012650|ICD10:B60.2|ICD10:B60.1|Orphanet:68 https://rarediseases.info.nih.gov/diseases/12650/amoebiasis-due-to-free-living-amoebae owl:Class MONDO:0014407 biolink:NamedThing megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene. tmpaxzxjjyw_mondo_relaxed.owl AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|MPPH2|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 Orphanet:83473|UMLS:C4014738|OMIM:615937 owl:Class UBERON:0002184 biolink:NamedThing segmental bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035767 biolink:NamedThing intrapulmonary bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012820 biolink:NamedThing colorectal cancer, susceptibility to, 3 Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene. tmpaxzxjjyw_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 18|colorectal cancer, susceptibility to, 3|CRCS3|SMAD7 colorectal cancer|susceptibility to colorectal cancer 3|colorectal cancer, susceptibility to, type 3|colorectal cancer caused by mutation in SMAD7 OMIM:612229 owl:Class UBERON:0004808 biolink:NamedThing gastrointestinal system epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6413 biolink:NamedThing KRT10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006567 biolink:NamedThing kernicterus due to isoimmunization Encephalopathy in infants due to high levels of unconjugated bilirubin that are a result of Rh incompatibility between the mother and the fetus. tmpaxzxjjyw_mondo_relaxed.owl kernicterus related to isoimmunization|kernicterus - due to isoimm.|kernicterus due to isoimmunization of fetus or newborn ICD10:P57.0|ICD9:773.4|NCIT:C101270|DOID:12043|EFO:1000721|UMLS:C0270204|SCTID:359007 owl:Class MONDO:0018477 biolink:NamedThing bilirubin encephalopathy tmpaxzxjjyw_mondo_relaxed.owl bilirubin encephalopathy|hyperbilirubinemic encephalopathy|kernicterus spectrum disorder|kernicterus ICD10:P57|ICD10:P57.9|MESH:D007647|DOID:2382|NCIT:C84799|EFO:1001002|SCTID:50143004|Orphanet:415286|GARD:0006830|MedDRA:10023376 owl:Class UBERON:0012475 biolink:NamedThing skeleton of pectoral complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009048 biolink:NamedThing curved nail of fourth toe tmpaxzxjjyw_mondo_relaxed.owl curved nail of fourth toe|claw-like fingers and toes OMIM:219070 owl:Class MONDO:0013935 biolink:NamedThing Usher syndrome type 1J Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene. tmpaxzxjjyw_mondo_relaxed.owl USHER syndrome, type Ij|USH1J|Usher syndrome, type 1J|Usher syndrome caused by mutation in CIB2|CIB2 Usher syndrome|Usher syndrome type Ij DOID:0110836|Orphanet:886|OMIM:614869|ICD10:H35.5|UMLS:C3553944|Orphanet:231169 owl:Class MONDO:0015310 biolink:NamedThing syndromic optic nerve hypoplasia tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226655|Orphanet:137905 owl:Class MONDO:0020249 biolink:NamedThing hereditary optic neuropathy tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10061323|Orphanet:98671 owl:Class MONDO:0008760 biolink:NamedThing beta-ketothiolase deficiency Beta-ketothiolase (T2) deficiency is a rare organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy or toddlerhood and usually ceasing by adolescence. tmpaxzxjjyw_mondo_relaxed.owl beta-ketothiolase deficiency|Mat deficiency|BKT|mitochondrial acetoacetyl-Coa thiolase deficiency|Alpha methylacetoacetic aciduria|T2 deficiency|peroxisomal thiolase deficiency|mitochondrial acetoacetyl-CoA thiolase deficiency|Alpha-methyl-acetoacetyl-CoA thiolase deficiency|ALPHA-methylacetoacetic aciduria|2-methyl-3-hydroxybutyricacidemia|3-Ktd deficiency|3-oxothiolase deficiency|mitochondrial acetoacetyl-coenzyme A thiolase deficiency|Beta ketothiolase deficiency|2-Methyl-3-hydroxybutyric acidemia|3-ketothiolase deficiency|alpha-methylacetoaceticaciduria OMIM:203750|NCIT:C98841|Orphanet:134|MESH:C535434|ICD10:E71.1|GARD:0000872|DOID:14723 owl:Class MONDO:0019229 biolink:NamedThing inborn disorder of ketolysis An acquired metabolic disease that is has its basis in the disruption of ketone body catabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of ketolysis|inborn ketone body catabolic process disorder|inborn error of ketone body catabolic process|rare inborn error of ketone body catabolic process UMLS:CN227594|ICD10:E71.3|Orphanet:79183 owl:Class MONDO:0002178 biolink:NamedThing placenta cancer A malignant neoplasm involving the placenta. tmpaxzxjjyw_mondo_relaxed.owl malignant placenta neoplasm|malignant tumor of placenta|malignant neoplasm of the placenta|malignant tumor of the placenta|malignant neoplasm of placenta|primary malignant neoplasm of placenta|deciduoma, malignant|malignant placental neoplasm|placental tumors|malignant placenta tumor|placenta cancer|cancer of placenta|placental cancer|malignant placental tumor ICD9:181|ICD9:239.5|NCIT:C3555|SCTID:126920004|DOID:2021|ICD10:C58|UMLS:C0153572 owl:Class HGNC:24526 biolink:NamedThing ATL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901858 biolink:NamedThing regulation of mitochondrial DNA metabolic process Any process that modulates the frequency, rate or extent of mitochondrial DNA metabolic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of mtDNA metabolic process|regulation of mtDNA metabolism|regulation of mitochondrial DNA metabolism owl:Class NCBITaxon:1870884 biolink:NamedThing Clostridioides tmpaxzxjjyw_mondo_relaxed.owl PMID:27370902|PMID:27902176|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:186804 biolink:NamedThing Peptostreptococcaceae tmpaxzxjjyw_mondo_relaxed.owl Clostridium cluster XI GC_ID:11 ncbi_taxonomy owl:Class MONDO:0012143 biolink:NamedThing hereditary cryohydrocytosis with reduced stomatin tmpaxzxjjyw_mondo_relaxed.owl cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly|sdCHC|GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis|cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|stomatin-deficient cryohydrocytosis with neurologic defects|SDCHCN|stomatin-deficient cryohydrocytosis|ChC type 2 ICD10:D58.8|MESH:C563840|OMIM:608885|UMLS:C1837206|Orphanet:168577 owl:Class MONDO:0005886 biolink:NamedThing oral candidiasis Infection of the mucosal lining of the mouth with the fungus Candida albicans. tmpaxzxjjyw_mondo_relaxed.owl thrush, oral|thrush|candidiasis of mouth|oral moniliasis|mouth candidiasis SCTID:78048006|MESH:D002180|EFO:0007406|DOID:14262|NCIT:C28137|SCTID:79740000|ICD9:112.0|UMLS:C0006849|ICD10:B37.0|ICD10:B37.9 owl:Class NCBITaxon:11041 biolink:NamedThing Rubella virus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11040 biolink:NamedThing Rubivirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0024489 biolink:NamedThing general tumor grading characteristic A term that refers to the cellular differentiation of a malignant cellular infiltrate. A cancer is defined through grades I-IV (or 1-4), or as well, moderately, poorly differentiated or undifferentiated. tmpaxzxjjyw_mondo_relaxed.owl disease grade qualifier NCIT:C28076 owl:Class MONDO:0024488 biolink:NamedThing tumor grading characteristic A modifier that can be applied to a tumor class describing abnormal tumor histology or morphology. It is an indicator of how quickly a tumor is likely to grow and spread tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100211 biolink:NamedThing growth hormone insensitivity with immune dysregulation 1, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl Laron syndrome with immunodeficiency|growth hormone insensitivity with immunodeficiency|Laron-like syndrome|Laron syndrome due to postreceptor defect|short stature due to STAT5b deficiency|growth hormone insensitivity due to postreceptor defect ICD10:E34.3|SCTID:724179008|ICD10:D82.8|UMLS:C1855548|MESH:C537871|OMIM:245590|UMLS:C4510411|Orphanet:220465 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0010890 biolink:NamedThing positive regulation of sequestering of triglyceride Any process that increases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of sequestering of triacylglycerol|positive regulation of triglyceride sequestration owl:Class GO:0010889 biolink:NamedThing regulation of sequestering of triglyceride Any process that modulates the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. tmpaxzxjjyw_mondo_relaxed.owl regulation of sequestering of triacylglycerol|regulation of triacylglycerol sequestration owl:Class MONDO:0012877 biolink:NamedThing major affective disorder 8 tmpaxzxjjyw_mondo_relaxed.owl major affective disorder 8|MAFD8|bipolar affective disorder|MAJOR affective disorder 8 OMIM:612357|MESH:C567530 owl:Class MONDO:0012782 biolink:NamedThing celiac disease, susceptibility to, 13 tmpaxzxjjyw_mondo_relaxed.owl CELIAC13|celiac disease, susceptibility to, 13|gluten-sensitive enteropathy, susceptibility to, 13 OMIM:612011 owl:Class MONDO:0005130 biolink:NamedThing celiac disease An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet. tmpaxzxjjyw_mondo_relaxed.owl celiac sprue|coeliac disease|gluten-induced enteropathy|gluten intolerance|idiopathic steatorrhea|non tropical sprue SCTID:396331005|OMIM:609753|Orphanet:555|OMIM:212750|GARD:0011998|ICD10:K90.0|OMIMPS:212750|EFO:0001060|OMIM:611598|UMLS:C0007570|OMIM:607202|OMIM:612011|OMIM:612009|OMIM:612007|ICD9:579.0|OMIM:612005|OMIM:612008|MESH:D002446|NCIT:C26714|OMIM:609754|OMIM:609755|DOID:10608|OMIM:612006 owl:Class MONDO:0033282 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 5 tmpaxzxjjyw_mondo_relaxed.owl MMDS5|multiple mitochondrial dysfunctions syndrome 5 OMIM:617613|UMLS:CN388855|DOID:0080274 owl:Class MONDO:0017338 biolink:NamedThing fatal multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome describes a group of rare inborn errors of energy metabolism due to defects in mitochondrial [4Fe-4S] protein assembly. Patients present with a neonatal/infancy onset of metabolic lactic acidosis (that may be associated with hyperglycinemia and other abnormal metabolic testing results), muscular hypotonia, absence of psychomotor development or developmental regression, as well as abnormal neuroimaging findings (including leukodystrophy, brain developmental defects, white matter abnormalities, cerebral atrophy), and other variable clinical features (e.g., optic atrophy, cardiomyopathy, pulmonary hypertension, seizures, and dysmorphic features). Early fatal outcome is usual. tmpaxzxjjyw_mondo_relaxed.owl fatal multiple mitochondrial dysfunction syndrome|multiple mitochondrial dysfunctions syndrome|MMDS SCTID:720827002|MESH:C565304|Orphanet:289573|UMLS:C3502075|UMLS:CN234684|DOID:0070330|GARD:0012632|OMIMPS:605711|UMLS:CN202994 owl:Class UBERON:0003685 biolink:NamedThing cranial suture tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002209 biolink:NamedThing fibrous joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020176 biolink:NamedThing palpebral sebaceous gland tumor A neoplasm (disease) that involves the sebaceous gland of eyelid. tmpaxzxjjyw_mondo_relaxed.owl sebaceous gland of eyelid tumor|sebaceous gland of eyelid neoplasm (disease)|neoplasm of sebaceous gland of eyelid|tumor of sebaceous gland of eyelid|sebaceous gland of eyelid neoplasm UMLS:CN207036|Orphanet:98585 owl:Class MONDO:0006642 biolink:NamedThing alcohol withdrawal delirium An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include confusion; delusions; vivid hallucinations; tremor; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175) tmpaxzxjjyw_mondo_relaxed.owl alcohol withdrawal induced delirium Tremens|alcohol withdrawal hallucinosis|autonomic hyperactivity, alcohol withdrawal associated|alcohol withdrawal associated autonomic hyperactivity|delirium Tremens|delirium, alcohol withdrawal|hallucinosis, alcohol withdrawal|alcohol withdrawal-induced delirium Tremens|delirium Tremens, alcohol withdrawal induced MESH:D000430|SCTID:8635005|ICD9:291.0|EFO:1000800|MedDRA:10001610 owl:Class MONDO:0005433 biolink:NamedThing alcohol withdrawal tmpaxzxjjyw_mondo_relaxed.owl alcohol withdrawal syndrome SCTID:191480000|UMLS:C0236663|ICD9:291.81|EFO:0004777 owl:Class MONDO:0013828 biolink:NamedThing hyperekplexia 2 Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary hyperekplexia caused by mutation in GLRB|HKPX2|hyperekplexia type 2|GLRB hereditary hyperekplexia|hyperekplexia 2 Orphanet:3197|OMIM:614619|DOID:0060697|ICD10:G25.8|UMLS:C3553291 owl:Class MONDO:0021022 biolink:NamedThing hereditary hyperekplexia Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. tmpaxzxjjyw_mondo_relaxed.owl hyperexplexia hereditary|familial startle disease|Kok disease|Stiff baby syndrome|congenital stiff man syndrome|hereditary hyperexplexia|hereditary hyperekplexia|startle disease|hyperekplexia GARD:0003129|OMIMPS:149400|OMIM:614618|Orphanet:3197|OMIM:614619|ICD10:G25.8|OMIM:149400|DOID:0060695|SCTID:724351008 owl:Class MONDO:0021112 biolink:NamedThing scrotum cancer A primary or metastatic malignant neoplasm affecting the scrotum. tmpaxzxjjyw_mondo_relaxed.owl malignant scrotal neoplasm|scrotum cancer|malignant tumor of the scrotum|malignant neoplasm of scrotum|cancer of scrotum|malignant scrotum neoplasm|malignant scrotal tumor|malignant neoplasm of the scrotum|malignant tumor of scrotum ICD9:187.7|UMLS:C0153604|NCIT:C3560|SCTID:363454002 owl:Class MONDO:0005836 biolink:NamedThing male reproductive organ cancer A primary or metastatic malignant neoplasm involving the male reproductive system. Representative examples include prostate carcinoma, penile carcinoma, testicular seminoma, and testicular embryonal carcinoma. tmpaxzxjjyw_mondo_relaxed.owl male reproductive system neoplasm|malignant neoplasm of the Male reproductive system|malignant male reproductive organ neoplasm|malignant Male reproductive system neoplasm|malignant neoplasm of male genital organ or tract|malignant neoplasm of Male reproductive system|malignant tumor of male reproductive system|malignant neoplasm of male genital organ, site unspecified|male reproductive organ cancer|malignant neoplasm of male genital organ|tumor of male reproductive system|malignant tumor of male genital organ|malignant neoplasm of male genital organs|male genital cancer|malignant neoplasm of male reproductive organ|malignant tumor of Male reproductive system|cancer of male reproductive organ|malignant Male reproductive system tumor|male genital neoplasm|neoplasm of male genital organ|malignant tumor of the Male reproductive system ICD9:187.9|ICD10:C60-C63|EFO:0007355|NCIT:C3054|NCIT:C8561|DOID:3856|ICD9:187.8|MESH:D005834|SCTID:363515000|ICD10:C63.9|SCTID:126895004 owl:Class GO:0006023 biolink:NamedThing aminoglycan biosynthetic process The chemical reactions and pathways resulting in the formation of aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. tmpaxzxjjyw_mondo_relaxed.owl aminoglycan synthesis|aminoglycan anabolism|aminoglycan biosynthesis|aminoglycan formation owl:Class GO:0006022 biolink:NamedThing aminoglycan metabolic process The chemical reactions and pathways involving aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. tmpaxzxjjyw_mondo_relaxed.owl aminoglycan metabolism owl:Class MONDO:0020337 biolink:NamedThing congenital dyserythropoietic anemia type 1 Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis. tmpaxzxjjyw_mondo_relaxed.owl CDA type I|CDA I|CDA type 1|anemia, dyserythropoietic, congenital type 1|congenital dyserythropoietic anemia type 1|dyserythropoietic anemia, congenital type 1|type I congenital dyserythropoietic anemia SCTID:59548005|OMIM:615631|Orphanet:98869|DOID:0111396|GARD:0002000|OMIM:224120|ICD10:D64.4 owl:Class MONDO:0019403 biolink:NamedThing congenital dyserythropoietic anemia Congenital dyserythropoietic anemia (CDA) is a heterogenous group of hematological disorders of late erythropoiesis and red cell abnormalities that lead to anemia. Five types of CDA are defined: CDA I, CDA II, CDA III, CDA IV and thrombocytopenia with CDA. tmpaxzxjjyw_mondo_relaxed.owl congenital dyshaematopoietic anaemia|CDA|anemia, congenital dyserythropoietic|dyserythropoietic anemia, congenital OMIM:224120|ICD10:D64.4|ICD9:285.8|MESH:D000742|NCIT:C84646|DOID:1338|OMIM:224100|OMIM:613673|OMIM:105600|SCTID:52951008|OMIM:615631|OMIMPS:224120|UMLS:C0002876|GARD:0001999|Orphanet:85 owl:Class MONDO:0019283 biolink:NamedThing nail anomaly A epidermal appendage anomaly that involves the nail. tmpaxzxjjyw_mondo_relaxed.owl epidermal appendage anomaly of nail|nail epidermal appendage anomaly Orphanet:79368|MedDRA:10028684 owl:Class MONDO:0012595 biolink:NamedThing leprosy, susceptibility to, 4 Any leprosy in which the cause of the disease is a mutation in the LTA gene. tmpaxzxjjyw_mondo_relaxed.owl leprosy, early-onset, susceptibility to|leprosy caused by mutation in LTA|susceptibility to leprosy 4|LPRS4|leprosy, susceptibility to, 4|LTA leprosy|leprosy, susceptibility to, type 4 OMIM:610988|Orphanet:548 owl:Class MONDO:0013903 biolink:NamedThing nystagmus 7, congenital, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl NYSTAGMUS 7, congenital, autosomal dominant|NYS7 OMIM:614826|UMLS:C3553801 owl:Class MONDO:0004095 biolink:NamedThing B-cell neoplasm A group of heterogeneous lymphoid tumors generally expressing one or more B-cell antigens or representing malignant transformations of B-lymphocytes. tmpaxzxjjyw_mondo_relaxed.owl lymphoma, B-cell|B-cell lymphocytic neoplasm|B-cell neoplasm|B-cell lymphoma DOID:707|NCIT:C3457|GARD:0005877|MESH:D016393|NCIT:C27907 https://rarediseases.info.nih.gov/diseases/5877/B-cell-lymphoma owl:Class CHEBI:26078 biolink:NamedThing phosphoric acid A phosphorus oxoacid that consists of one oxo and three hydroxy groups joined covalently to a central phosphorus atom. tmpaxzxjjyw_mondo_relaxed.owl orthophosphoric acid|tetraoxophosphoric acid|Phosphate|acidum phosphoricum|acide phosphorique|trihydroxidooxidophosphorus|Phosphorsaeure|H3PO4|Phosphorsaeureloesungen|phosphoric acid|trihydrogen tetraoxophosphate(3-)|Orthophosphoric acid|[PO(OH)3]|Phosphoric acid owl:Class CHEBI:59698 biolink:NamedThing phosphoric acids Compounds containing one or more phosphoric acid units. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051171 biolink:NamedThing regulation of nitrogen compound metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. tmpaxzxjjyw_mondo_relaxed.owl regulation of nitrogen metabolic process|regulation of nitrogen metabolism owl:Class HGNC:18688 biolink:NamedThing CRB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020449 biolink:NamedThing persistent eustachian valve tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99120|ICD10:Q26.8 owl:Class MONDO:0018015 biolink:NamedThing intermittent hydrarthrosis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149910|Orphanet:329967|ICD10:M12.4|SCTID:711286009 owl:Class UBERON:0003383 biolink:NamedThing cardiac muscle tissue of interventricular septum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004667 biolink:NamedThing interventricular septum muscular part tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009874 biolink:NamedThing Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes). tmpaxzxjjyw_mondo_relaxed.owl Rabson-Mendenhall syndrome|Mendenhall syndrome|pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities MESH:D056731|OMIM:262190|NCIT:C131000|ICD10:E13|ICD9:259.8|SCTID:33559001|Orphanet:769|UMLS:C0271695|GARD:0000226 https://rarediseases.info.nih.gov/diseases/226/rabson-mendenhall-syndrome owl:Class MONDO:0007116 biolink:NamedThing hereditary neurocutaneous angioma Hereditary neurocutaneous angioma is characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl angioma, hereditary neurocutaneous|hereditary neurocutaneous malformation|spinal arterial Venous malformations with cutaneous hemangiomas|hemangiomatosis, disseminated|angioma hereditary neurocutaneous|hereditary neurocutaneous angioma ICD10:D18.0|Orphanet:1062|OMIM:106070|GARD:0000676 owl:Class MONDO:0021248 biolink:NamedThing nervous system neoplasm A neoplasm (disease) that involves the nervous system. tmpaxzxjjyw_mondo_relaxed.owl nervous system tumour|nervous system tumor|nervous system neoplasm (disease)|neoplasm of the nervous system|nervous system neoplasms|tumor of the nervous system|tumor of nervous system|neoplasm of nervous system NCIT:C3268 owl:Class MONDO:0012204 biolink:NamedThing familial pseudohyperkalemia An inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. tmpaxzxjjyw_mondo_relaxed.owl cryohydrocytosis, mild|pseudohyperkalemia Lille|pseudohyperkalemia, familial, 2, due to red cell leak|pseudohyperkalemia East London|PSHK2|pseudohyperkalemia Falkirk|pseudohyperkalemia Chiswick OMIM:609153|UMLS:C4273970|UMLS:C1836705|ICD10:D58.8|Orphanet:90044|MESH:C563785|SCTID:717254007 owl:Class MONDO:0020102 biolink:NamedThing hereditary stomatocytosis tmpaxzxjjyw_mondo_relaxed.owl hereditary stomatocytic disease Orphanet:98365|ICD9:282.8|SCTID:14087004|ICD10:D58.8|UMLS:C1262483 owl:Class GO:0005976 biolink:NamedThing polysaccharide metabolic process The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpaxzxjjyw_mondo_relaxed.owl glycan metabolism|multicellular organismal polysaccharide metabolic process|glycan metabolic process|polysaccharide metabolism owl:Class MONDO:0015997 biolink:NamedThing ectopia lentis-chorioretinal dystrophy-myopia syndrome Ectopia lentis-chorioretinal dystrophy-myopia syndrome is characterised by anomalies of the lens (ectopia and cataracts) and retina (generalized tapetoretinal dystrophy and total retinal detachment). Myopia has also been reported. It has been described in four members of the same family, all resulting from a consanguineous marriage. The mode of transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl ectopia lentis chorioretinal dystrophy myopia|noble-Bass-Sherman syndrome|noble Bass Sherman syndrome Orphanet:1884|ICD10:Q15.8|GARD:0003999|MESH:C536124|SCTID:722437006 owl:Class MONDO:0009607 biolink:NamedThing methionine adenosyltransferase deficiency Hypermethioninemia due to methionine adenosyltransferase deficiency is a very rare metabolic disorder resulting in isolated hepatic hypermethioninemia that is usually benign due to partial inactivation of enzyme activity. Rarely patients have been found to have an odd odor or neurological disorders such as brain demyelination. tmpaxzxjjyw_mondo_relaxed.owl MAT I/III deficiency|methionine adenosyltransferase I/III deficiency|methionine adenosyltransferase deficiency|brain demyelination due to methionine adenosyltransferase deficiency|MAT deficiency|isolated persistent hypermethioninemia|hypermethioninemia, isolated persistent|Mat I/III deficiency OMIM:250850|GARD:0008397|NCIT:C123435|Orphanet:168598|ICD10:E72.1 owl:Class MONDO:0012078 biolink:NamedThing Joubert syndrome 3 Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome caused by mutation in AHI1|JBTS3|Joubert syndrome type 3|Joubert syndrome 3|AHI1 Joubert syndrome Orphanet:220493|UMLS:C1837713|MESH:C536295|DOID:0110998|NCIT:C148259|OMIM:608629 owl:Class MONDO:0016041 biolink:NamedThing congenital microgastria Congenital microgastria is a rare malformation where the embryological development of the stomach is interrupted, leading to an abnormally small foregut in newborns and characterized by extreme feeding intolerance and malnutrition along with growth retardation and death if untreated. It is usually associated with multiple congenital anomalies. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:199293|ICD10:Q40.2|ICD9:750.7|SCTID:83714006 owl:Class MONDO:0015209 biolink:NamedThing non-syndromic gastroduodenal malformation A gastroduodenal malformation that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl isolated gastroduodenal malformation|nonsyndromic gastroduodenal malformation Orphanet:108963 owl:Class MONDO:0000553 biolink:NamedThing uterine corpus endometrial carcinoma A endometrial carcinoma (disease) that involves the body of uterus. tmpaxzxjjyw_mondo_relaxed.owl endometrial carcinoma (disease) of body of uterus|body of uterus endometrial carcinoma (disease) DOID:0050939 owl:Class MONDO:0006003 biolink:NamedThing uterine corpus cancer A malignant neoplasm involving the body of uterus. tmpaxzxjjyw_mondo_relaxed.owl uterine (including endometrial) cancer|malignant neoplasm of body of uterus|uterine corpus cancer|malignant body of uterus neoplasm|cancer of the corpus uteri|corpus uteri cancer|endometrial cancer|body of uterus cancer|cancer of body of uterus NCIT:C61574|ICD10:C54.9|DOID:9460|EFO:0007532|SCTID:371972005|ICD10:C54|ICD9:182 Editor note: NCIT has terms for both UC malignant neoplasm (NCIT:C3556) and cancer. owl:Class MONDO:0020421 biolink:NamedThing coronary artery intramyocardial course tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q24.5|Orphanet:99085 owl:Class MONDO:0014169 biolink:NamedThing dyschromatosis universalis hereditaria 3 Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene. tmpaxzxjjyw_mondo_relaxed.owl ABCB6 dyschromatosis universalis hereditaria|dyschromatosis universalis hereditaria caused by mutation in ABCB6|dyschromatosis universalis hereditaria 3|DUH3|dyschromatosis universalis hereditaria type 3 OMIM:615402|Orphanet:241|UMLS:C3809394 owl:Class HGNC:2328 biolink:NamedThing CPT1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024494 biolink:NamedThing tumor grade 4, general grading system A morphologic qualifier indicating that a cancerous lesion is undifferentiated. tmpaxzxjjyw_mondo_relaxed.owl G4|high grade|undifferentiated|grade 4|grade IV NCIT:C28082 owl:Class GO:0001811 biolink:NamedThing negative regulation of type I hypersensitivity Any process that stops, prevents, or reduces the rate of type I hypersensitivity, a type of inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl down regulation of type I hypersensitivity|down-regulation of type I hypersensitivity|downregulation of type I hypersensitivity|inhibition of type I hypersensitivity owl:Class MONDO:0000540 biolink:NamedThing small intestinal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpaxzxjjyw_mondo_relaxed.owl small intestine carcinoid tumor|small intestine NET G1|small intestinal NET G1|carcinoid tumor of the small bowel|small intestine neuroendocrine tumor, well differentiated, low grade|small intestinal neuroendocrine tumor G1|carcinoid tumor of the small intestine|carcinoid tumor of small bowel|small bowel carcinoid tumor|small intestine carcinoid tumor (disease)|grade 1 neuroendocrine neoplasm of small intestine|small intestine carcinoid neuroendocrine tumor|small intestine neuroendocrine neoplasm G1|small intestinal carcinoid tumor|carcinoid tumor of small intestine SCTID:276818002|UMLS:C0349536|NCIT:C4638|DOID:0050925 owl:Class MONDO:0002300 biolink:NamedThing dermis tumor A benign, intermediate, or malignant neoplasm that arises from the dermis. tmpaxzxjjyw_mondo_relaxed.owl tumor of dermis|neoplasm of the dermis|dermis neoplasm|neoplasm of dermis|dermis neoplasm (disease)|dermis tumor|dermal neoplasm|tumor of the dermis|dermal tumor UMLS:C0346041|DOID:2438|NCIT:C4475 owl:Class MONDO:0016184 biolink:NamedThing qualitative or quantitative defects of protein O-mannosyltransferase 1 tmpaxzxjjyw_mondo_relaxed.owl qualitative or quantitative defects of protein O-mannosyltransferase type 1 Orphanet:209030 owl:Class MONDO:0013696 biolink:NamedThing chromosome 2P16.3 deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl schizophrenia 17|chromosome 2P16.3 deletion syndrome UMLS:C3808494|OMIM:614332 owl:Class MONDO:0003987 biolink:NamedThing lung lymphoma A rare non-Hodgkin or Hodgkin lymphoma that arises in and is confined to the lung at the time of diagnosis. tmpaxzxjjyw_mondo_relaxed.owl primary lung lymphoma|pulmonary lymphoma|lymphoma of lung|lung lymphoma|lymphoma of the lung UMLS:C1704383|DOID:6760|NCIT:C4794 owl:Class MONDO:0005111 biolink:NamedThing Epstein-Barr virus infection An infection that is caused by Epstein-Barr virus. tmpaxzxjjyw_mondo_relaxed.owl Human Herpes Virus 4 infections|EBV infection|infections, Epstein-Barr Virus|Human Herpesvirus 4 infections|Human gammaherpesvirus 4 infectious disease|Epstein Barr Virus infections|EBV infections|infections, EBV|Epstein-Barr Virus infection|Human gammaherpesvirus 4 disease or disorder|Human gammaherpesvirus 4 caused disease or disorder|Herpesvirus 4 infections, Human|Virus infections, Epstein-Barr EFO:0000769|NCIT:C38759|MESH:D020031|UMLS:C0149678 owl:Class MONDO:0021011 biolink:NamedThing hereditary progressive chorea without dementia tmpaxzxjjyw_mondo_relaxed.owl BHC|BCH|chorea, benign hereditary|hereditary progressive chorea without dementia OMIM:118700|Orphanet:1429 owl:Class MONDO:0020183 biolink:NamedThing neurogenic palpebral tumor tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98593|UMLS:CN207043 owl:Class MONDO:0016816 biolink:NamedThing Leigh syndrome with nephrotic syndrome tmpaxzxjjyw_mondo_relaxed.owl Leigh disease with nephrotic syndrome|infantile subacute necrotizing encephalopathy with nephrotic syndrome Orphanet:255249|ICD10:G31.8|OMIM:614652|UMLS:CN202084|OMIM:607426 owl:Class MONDO:0004663 biolink:NamedThing colon carcinoma in situ A in situ carcinoma that involves the colon. tmpaxzxjjyw_mondo_relaxed.owl colon cancer stage 0|stage 0 colon cancer aJCC v7|stage 0 colon carcinoma|carcinoma in situ of colon|stage 0 carcinoma of the colon|stage 0 carcinoma of colon|colonic carcinoma in situ|colon in situ carcinoma|stage 0 colon cancer aJCC v6 and v7|stage 0 colon cancer aJCC v6|stage 0 colon cancer|colon carcinoma in situ|stage 0 colonic carcinoma|carcinoma in situ of the colon SCTID:92568009|ICD10:D01.0|ICD9:230.3|DOID:8826|UMLS:C0154061|NCIT:C3638 owl:Class MONDO:0016696 biolink:NamedThing anaplastic oligodendroglioma A WHO grade III oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). tmpaxzxjjyw_mondo_relaxed.owl oligodendroglioma, anaplastic, malignant|WHO grade III oligodendroglial neoplasm|anaplastic oligodendroglioma|malignant oligodendroglioma|oligodendroglioma, malignant|WHO grade III oligodendroglial tumor|undifferentiated oligodendroglioma NCIT:C4326|ICD10:C71.9|ONCOTREE:AODG|UMLS:C0334590|GARD:0009472|MedDRA:10026659|OMIM:616568|Orphanet:251630|ICDO:9451/3|ICD10:C79.1|EFO:0002501|OMIM:137800 https://rarediseases.info.nih.gov/diseases/9472/anaplastic-oligodendroglioma owl:Class MONDO:0005678 biolink:NamedThing bovine respiratory disease complex A multifactorial disease of cattle resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the immune system and other host defenses and enhancing transmission of infecting agents. tmpaxzxjjyw_mondo_relaxed.owl EFO:0007180|MESH:D048090|UMLS:C1449809 owl:Class UBERON:0001612 biolink:NamedThing facial artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002307 biolink:NamedThing choroid plexus of lateral ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017892 biolink:NamedThing autosomal recessive myogenic arthrogryposis multiplex congenita Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life. tmpaxzxjjyw_mondo_relaxed.owl SYNE1-related AMC|SYNE1-related arthrogryposis multiplex congenita|autosomal recessive myogenic AMC SCTID:764812008|UMLS:CN203942|Orphanet:319332|ICD10:Q74.3 owl:Class MONDO:0024240 biolink:NamedThing eccrine carcinoma An adenocarcinoma with eccrine differentiation arising from the sweat glands. It includes the following subtypes: ductal eccrine adenocarcinoma, papillary eccrine carcinoma, and eccrine porocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl eccrine adenocarcinoma (morphologic abnormality)|eccrine adenocarcinoma|carcinoma, eccrine gland, malignant|eccrine carcinoma|eccrine carcinoma of skin|eccrine sweat gland carcinoma|eccrine sweat gland adenocarcinoma|carcinoma of eccrine sweat gland ICDO:8413/3|UMLS:C1266066|NCIT:C27255|DOID:4920|SCTID:400173004|UMLS:C1707878|UMLS:C1302864 owl:Class MONDO:0005506 biolink:NamedThing eccrine sweat gland cancer An cancer with eccrine differentiation arising from the sweat glands.B tmpaxzxjjyw_mondo_relaxed.owl eccrine sweat gland cancer|malignant eccrine tumor of the skin|malignant neoplasm of eccrine sweat gland|malignant eccrine sweat gland neoplasm|malignant eccrine tumor of skin|malignant eccrine skin tumor|malignant eccrine skin neoplasm|malignant eccrine tumor|cancer of eccrine sweat gland|malignant eccrine neoplasm of skin|malignant eccrine neoplasm|malignant eccrine neoplasm of the skin NCIT:C27255|UMLS:C1334577|DOID:4921|NCIT:C5559|EFO:0005553 owl:Class UBERON:0004783 biolink:NamedThing gall bladder serosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0007556 biolink:NamedThing Plantar hyperkeratosis Hyperkeratosis affecting the sole of the foot. tmpaxzxjjyw_mondo_relaxed.owl Plantar hyperkeratoses UMLS:C1856954 HP:0007382|HP:0007445 human_phenotype owl:Class HP:0000962 biolink:NamedThing Hyperkeratosis Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0870082|SNOMEDCT_US:26996000|SNOMEDCT_US:396228006|SNOMEDCT_US:399955009|MEDDRA:10020649 HP:0007523 human_phenotype owl:Class UBERON:0018415 biolink:NamedThing ethmoid foramen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014698 biolink:NamedThing microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome tmpaxzxjjyw_mondo_relaxed.owl EHLMRS|epilepsy, hearing loss, and intellectual disability syndrome|microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome|epilepsy, hearing loss, and mental retardation syndrome Orphanet:457351|OMIM:616577|UMLS:C4225276 owl:Class MONDO:0018682 biolink:NamedThing congenital insensitivity to pain with severe intellectual disability tmpaxzxjjyw_mondo_relaxed.owl congenital insensitivity to pain with preserved temperature sensation|congenital analgesia with severe intellectual disability|congenital absence of pain with severe intellectual disability|congenital insensitivity to pain with severe non-progressive cognitive delay Orphanet:453510 owl:Class MONDO:0008243 biolink:NamedThing Pick disease A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies. tmpaxzxjjyw_mondo_relaxed.owl Pick disease|dementia with lobar atrophy and neuronal cytoplasmic inclusions|lobar atrophy of the brain|Pick disease of the brain|PICK disease of brain|dementia in Pick's disease|lobar atrophy of brain|Pick's disease DOID:11870|ICD10:G31.01|GARD:0007392|UMLS:C0236642|MESH:D020774|NCIT:C85008|OMIM:172700|ICD9:331.11|Orphanet:282|SCTID:13092008|EFO:0003096 owl:Class MONDO:0007319 biolink:NamedThing chondrocalcinosis 2 A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA). tmpaxzxjjyw_mondo_relaxed.owl calcium gout|familial CPPD|calcium gout, familial|familial CC|chondrocalcinosis, familial articular|CCAL2|calcium pyrophosphate dihydrate deposition disease|CPPDD|Pseudogout, familial|hereditary calcium pyrophosphate deposition|chondrocalcinosis type 2|calcium pyrophosphate arthropathy|familial calcium pyrophosphate deposition|familial articular chondrocalcinosis|hereditary articular chondrocalcinosis|chondrocalcinosis 2|familial calcium pyrophosphate dihydrate deposition disease|hereditary CC|chondrocalcinosis familial articular|calcium pyrophosphate dihydrate crystal deposition disease|calcium pyrophosphate arthropathy, familial UMLS:CN199517|OMIM:118600|ICD10:M11.1|Orphanet:1416|GARD:0001292|OMIM:600668|MESH:C563162 owl:Class MONDO:0019409 biolink:NamedThing idiopathic juvenile osteoporosis Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. tmpaxzxjjyw_mondo_relaxed.owl osteoporosis, juvenile|Pediatric osteoporosis|idiopathic juvenile osteoporosis|idiopathic osteoporosis|juvenile osteoporosis|Ijo DOID:12559|OMIM:615221|Orphanet:85193|ICD9:733.02|ICD10:M81.5|SCTID:3345002|NCIT:C119996|OMIM:259750|MESH:C537700|GARD:0006760|UMLS:CN536248 owl:Class MONDO:0003928 biolink:NamedThing uterine corpus myxoid leiomyosarcoma A morphologic variant of leiomyosarcoma arising from the uterus corpus. It is characterized by the presence of cellular pleomorphism, malignant cells with large nuclei, and a myxoid stroma. tmpaxzxjjyw_mondo_relaxed.owl myxoid leiomyosarcoma of body of uterus|uterine myxoid leiomyosarcoma|body of uterus myxoid leiomyosarcoma|uterine corpus myxoid leiomyosarcoma NCIT:C40175|ONCOTREE:UMLMS|UMLS:C1519861|DOID:6567 owl:Class MONDO:0005344 biolink:NamedThing hepatitis B virus infection A viral infection caused by the hepatitis B virus. tmpaxzxjjyw_mondo_relaxed.owl Hepatitis B|hepatitis B infection|viral Hepatitis B|serum hepatitis|hepatitis type B|chronic hepatitis B|Hepatitis B virus caused hepatitis|Hepatitis B virus hepatitis|Hepatitis B infection DOID:2043|MESH:D006509|EFO:0004197|SCTID:66071002|UMLS:C0019163|MESH:D019694|NCIT:C3097|ICD9:070.30 owl:Class MONDO:0006764 biolink:NamedThing fungal meningitis Meningitis caused by fungal agents which may occur as opportunistic infections or arise in immunocompetent hosts. tmpaxzxjjyw_mondo_relaxed.owl Fungi caused infectious meningitis|Fungi infectious meningitis MedDRA:10017538|ICD9:321.1|EFO:1000942|MESH:D016921|DOID:11608|ICD9:117.9|SCTID:24321005|UMLS:C0085438 owl:Class MONDO:0018197 biolink:NamedThing mitochondrial DNA depletion syndrome, hepatocerebrorenal form tmpaxzxjjyw_mondo_relaxed.owl mtDNA depletion syndrome, hepatocerebrorenal form UMLS:CN204706|Orphanet:363534|ICD10:E88.8 owl:Class GO:0007346 biolink:NamedThing regulation of mitotic cell cycle Any process that modulates the rate or extent of progress through the mitotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl regulation of progression through mitotic cell cycle|mitotic cell cycle modulation|mitotic cell cycle regulation|modulation of mitotic cell cycle progression|mitotic cell cycle regulator|regulation of mitotic cell cycle progression owl:Class MONDO:0005290 biolink:NamedThing rhabdomyolysis A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma. tmpaxzxjjyw_mondo_relaxed.owl rhabdomyolysis|rhabdomyolysis (disease) rhabdomyolysis (disease) EFO:0003867|ICD9:728.88|MESH:D012206|NCIT:C118318|HP:0003201|SCTID:240131006 owl:Class MONDO:0011614 biolink:NamedThing 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (HMG-CoA synthase deficiency) is a rare autosomal recessively inherited disorder of ketone body metabolism, reported in less than 20 patients to date, characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma. Patients are mostly asymptomatic between acute epidodes. HMG-CoA synthase deficiency requires an early diagnosis in order to avoid hypoglycemic crises that can lead to permanent brain damage or death. tmpaxzxjjyw_mondo_relaxed.owl HMG-CoA synthase deficiency|mitochondrial HMG-Coa synthase deficiency|HMG CoA synthetase deficiency|3-hydroxy-3-methylglutaryl-CoA synthase deficiency|Hmgcs2 deficiency|HMGCS2D|3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency UMLS:C2751532|Orphanet:35701|GARD:0002712|OMIM:605911|MESH:C567784|ICD10:E71.3|SCTID:725286002 owl:Class MONDO:0012157 biolink:NamedThing congenital myasthenic syndrome 4C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. tmpaxzxjjyw_mondo_relaxed.owl myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency|Cms Id|myasthenia, familial infantile, 1, formerly|CMS1D|CMS4C|Cms Id, formerly|familial infantile myasthenia 1|CMS Id|congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency|myasthenia, familial infantile, 1|FIM1|myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 4C|congenital myasthenic syndrome type Id|myasthenic syndrome, congenital, type Id Orphanet:590|OMIM:608931|DOID:0110679|GARD:0010108 owl:Class HGNC:5401 biolink:NamedThing SP110 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0033151 biolink:NamedThing V(D)J recombination The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). tmpaxzxjjyw_mondo_relaxed.owl V-D-J recombination|V-J recombination|V-J joining|V-D-J joining|V(D)J joining owl:Class MONDO:0014326 biolink:NamedThing nemaline myopathy 9 Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene. tmpaxzxjjyw_mondo_relaxed.owl NEM9|nemaline myopathy caused by mutation in KLHL41|nemaline myopathy type 9|nemaline myopathy 9|KLHL41 nemaline myopathy Orphanet:607|OMIM:615731|UMLS:C3810384|DOID:0110929 owl:Class MONDO:0015735 biolink:NamedThing severe congenital nemaline myopathy Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates. tmpaxzxjjyw_mondo_relaxed.owl severe congenital (neonatal) NM GARD:0012821|OMIM:616165|OMIM:615731|OMIM:161800|Orphanet:171430|ICD10:G71.2|OMIM:256030|OMIM:615348 https://rarediseases.info.nih.gov/diseases/12821/severe-congenital-nemaline-myopathy owl:Class MONDO:0003554 biolink:NamedThing adenosquamous colon carcinoma An unusual colon carcinoma characterized by the presence of glandular and squamous carcinomatous components. The two carcinomatous components may be admixed within the tumor, or the two may appear separately in different areas. tmpaxzxjjyw_mondo_relaxed.owl colonic adenosquamous carcinoma|adenosquamous colon carcinoma|adenosquamous carcinoma of colon|colon adenosquamous carcinoma|colon adenosquamous cancer|adenosquamous carcinoma of the colon DOID:5629|NCIT:C5491|UMLS:C1333082 owl:Class HGNC:13429 biolink:NamedThing RLIM tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011890 biolink:NamedThing Charcot-Marie-Tooth disease type 1D A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis. tmpaxzxjjyw_mondo_relaxed.owl EGR2 Charcot-Marie-Tooth disease type 1|Charcot-Marie-Tooth neuropathy type 1D|Charcot-Marie-Tooth neuropathy, type 1D|Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2|hereditary motor and sensory neuropathy 1D|HMSN 1D|CMT1D|Charcot Marie Tooth disease type 1D|HMSN ID|CMT 1D|HMSN1D|Charcot-Marie-Tooth disease, demyelinating, type 1D Orphanet:101084|GARD:0009189|SCTID:719979008|DOID:0110150|OMIM:607678|MESH:C537985|UMLS:C1843247|ICD10:G60.0 https://rarediseases.info.nih.gov/diseases/9189/charcot-marie-tooth-disease-type-1d owl:Class MONDO:0019011 biolink:NamedThing Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity. tmpaxzxjjyw_mondo_relaxed.owl CMT1|hereditary motor and sensory neuropathy type 1|Charcot-Marie-Tooth neuropathy type 1|Charcot-Marie-Tooth type 1|autosomal dominant demyelinating Charcot-Marie-Tooth disease GARD:0012433|SCTID:398040009|DOID:0050538|ICD10:G60.0|Orphanet:65753 owl:Class MONDO:0017080 biolink:NamedThing occipital encephalocele tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268823|SCTID:42376006|ICD10:Q01.2 owl:Class MONDO:0007794 biolink:NamedThing hypogonadotropic hypogonadism 7 with or without anosmia A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. tmpaxzxjjyw_mondo_relaxed.owl idiopathic hypogonadotropic hypogonadism|hypogonadism, isolated hypogonadotropic|HH7|hypogonadotropic hypogonadism 7 with or without anosmia DOID:0090078|ICD9:253.4|OMIM:146110|ICD10:E23.0|SCTID:123953004 owl:Class MONDO:0014102 biolink:NamedThing hypogonadotropic hypogonadism 17 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the SPRY4 gene. tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropic hypogonadism 17 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in SPRY4|SPRY4 hypogonadotropic hypogonadism|HH17 OMIM:615266|DOID:0090079|UMLS:C3808971|Orphanet:478|ICD10:E23.0 owl:Class HGNC:2209 biolink:NamedThing COL5A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13818 biolink:NamedThing SLC12A5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051495 biolink:NamedThing positive regulation of cytoskeleton organization Any process that activates or increases the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cytoskeleton organization and biogenesis|upregulation of cytoskeleton organization|positive regulation of cytoskeleton organisation|stimulation of cytoskeleton organization|activation of cytoskeleton organization|up regulation of cytoskeleton organization|up-regulation of cytoskeleton organization owl:Class MONDO:0014213 biolink:NamedThing intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant mental retardation 21|autosomal dominant non-syndromic intellectual disability 21|intellectual disability, autosomal dominant 21|mental retardation, autosomal dominant 21|intellectual disability, autosomal dominant type 21|mental retardation, autosomal dominant type 21|MRD21|autosomal dominant intellectual disability 21 DOID:0070051|OMIM:615502|UMLS:C3809686|ICD10:Q87.8|Orphanet:363611 owl:Class GO:1904098 biolink:NamedThing regulation of protein O-linked glycosylation Any process that modulates the frequency, rate or extent of protein O-linked glycosylation. tmpaxzxjjyw_mondo_relaxed.owl regulation of protein amino acid O-linked glycosylation owl:Class GO:0090275 biolink:NamedThing negative regulation of somatostatin secretion Any process that decreases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0090284 biolink:NamedThing positive regulation of protein glycosylation in Golgi Any process that increases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of protein amino acid glycosylation in Golgi owl:Class UBERON:0007625 biolink:NamedThing pigment epithelium of eye tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019304 biolink:NamedThing sensory organ epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009205 biolink:NamedThing faciocardiorenal syndrome Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. tmpaxzxjjyw_mondo_relaxed.owl Eastman Bixler syndrome|faciocardiorenal syndrome|Eastman-Bixler syndrome ICD10:Q87.8|OMIM:227280|UMLS:C0795936|Orphanet:1973|MESH:C536388|SCTID:723333000|GARD:0002230 https://rarediseases.info.nih.gov/diseases/2230/faciocardiorenal-syndrome owl:Class MONDO:0012163 biolink:NamedThing severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive|autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID|SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive OMIM:608971|Orphanet:169157|UMLS:C1837028|Orphanet:169154|Orphanet:169160|MESH:C563822|DOID:0090014|ICD10:D81.2 Editor note: check relationship to sibs owl:Class UBERON:0006922 biolink:NamedThing cervix squamous epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004801 biolink:NamedThing cervix epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019214 biolink:NamedThing inborn carbohydrate metabolic disorder An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of carbohydrate transport and metabolism|inborn error of carbohydrate metabolic process|carbohydrate metabolism disorder|inborn carbohydrate metabolism disorder|disorder of carbohydrate metabolism|rare inborn error of carbohydrate metabolic process|carbohydrate metabolic disorder|inborn errors of carbohydrate metabolism|inborn carbohydrate metabolic process disorder EFO:1000061|MedDRA:10061023|ICD9:271.8|NCIT:C97089|Orphanet:79161|DOID:2978|MESH:D002239 owl:Class MONDO:0020694 biolink:NamedThing salivary gland epithelial myoepithelial carcinoma A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells. tmpaxzxjjyw_mondo_relaxed.owl salivary gland epithelial myoepithelial carcinoma NCIT:C35701 owl:Class MONDO:0003389 biolink:NamedThing epithelial-myoepithelial carcinoma A malignant neoplasm which occurs mostly in the major salivary glands (most frequently in the parotid gland), but also in the minor salivary glands of the oral mucosa and the tracheobronchial tree. It is characterized by the presence of ductal structures which are lined by an inner layer of cuboidal epithelial-type cells and an outer layer of myoepithelial cells with clear or eosinophilic cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl EMYOCA|epithelial-myoepithelial carcinoma ICDO:8562/3|ONCOTREE:EMYOCA|DOID:5309|UMLS:C0334392|NCIT:C4199|GARD:0006364 owl:Class NCBITaxon:44281 biolink:NamedThing Pneumocystidaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:37987 biolink:NamedThing Pneumocystidales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009829 biolink:NamedThing pallidal degeneration, progressive, with retinitis pigmentosa tmpaxzxjjyw_mondo_relaxed.owl pallidal degeneration, progressive, with retinitis pigmentosa 2022-04-01 UMLS:C1850101|OMIM:260200|MESH:C564910 Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: HP:0007132 HP:0007132 owl:Class MONDO:0011801 biolink:NamedThing spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia with axonal neuropathy|spinocerebellar ataxia, autosomal recessive, with axonal neuropathy|spinocerebellar ataxia with axonal neuropathy|spinocerebellar ataxia type 1 with axonal neuropathy|SCAN1|spinocerebellar ataxia with axonal neuropathy type 1|spinocerebellar ataxia autosomal recessive with axonal neuropathy|spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 Orphanet:94124|MESH:C537313|ICD10:G60.2|OMIM:607250|GARD:0010000|SCTID:765091006|DOID:0090115|UMLS:C1846574|GARD:10000 owl:Class MONDO:0024268 biolink:NamedThing superficial mycosis A mycosis that is limited to the stratum corneum and essentially elicits no inflammation. tmpaxzxjjyw_mondo_relaxed.owl steroid-modified tinea infection|stratum corneum of epidermis fungal infectious disease|piedra DOID:0050133|UMLS:C2980104|ICD9:117.9|UMLS:C0031898|MESH:D010854|ICD10:B36.9|SCTID:402135006|SCTID:276206000 owl:Class MONDO:0000254 biolink:NamedThing cutaneous mycosis A mycosis that involves the integument and its appendages, including hair and nails. Infection may involve the stratum corneum or deeper layers of the epidermis. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050134|SCTID:14560005 owl:Class MONDO:0010723 biolink:NamedThing retinitis pigmentosa 2 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa caused by mutation in RP2|retinitis pigmentosa 2|retinitis pigmentosa type 2|RP2 retinitis pigmentosa|RP2 OMIM:312600|DOID:0110415|MESH:C567523|ICD10:H35.5|Orphanet:791|UMLS:C2681923 owl:Class MONDO:0014478 biolink:NamedThing mirror movements 3 Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene. tmpaxzxjjyw_mondo_relaxed.owl familial congenital mirror movements caused by mutation in DNAL4|DNAL4 familial congenital mirror movements|mirror movements type 3|MRMV3|mirror movements 3 OMIM:616059|UMLS:C4015124|Orphanet:238722 owl:Class MONDO:0016558 biolink:NamedThing familial congenital mirror movements Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected. tmpaxzxjjyw_mondo_relaxed.owl isolated congenital mirror movements|bimanual synkinesis|isolated congenital controlateral synkinesia|familial congenital mirror movements|CMM|congenital mirror movement disorder|congenital mirror movements|hereditary congenital controlateral synkinesia|familial congenital controlateral synkinesia|hereditary congenital mirror movements Orphanet:238722|DOID:0111153|OMIM:616059|OMIMPS:157600|OMIM:157600|GARD:0012551|SCTID:229247004|OMIM:614508 MONDO:0000140 owl:Class MONDO:0014268 biolink:NamedThing combined immunodeficiency due to OX40 deficiency Combined immunodeficiency due to OX40 deficiency is a rare combined T and B cell immunodeficiency characterized by susceptibility to develop an aggressive, childhood-onset, disseminated, cutaneous and systemic Kaposi sarcoma. tmpaxzxjjyw_mondo_relaxed.owl OX40 deficiency|combined immunodeficiency with impaired immunity to HHV-8|combined immunodeficiency with impaired immunity to human herpes virus 8|IMD16|immunodeficiency type 16|immunodeficiency 16|combined immunodeficiency with childhood-onset Kaposi sarcoma OMIM:615593|UMLS:C3810053|ICD10:D81.8|SCTID:766879006|Orphanet:431149 owl:Class MONDO:0011874 biolink:NamedThing neonatal ichthyosis-sclerosing cholangitis syndrome Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis. tmpaxzxjjyw_mondo_relaxed.owl ILVASC|NISCH syndrome|Ilvasc|Nisch syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|IHSC|ichthyosis-sclerosing cholangitis syndrome|ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis|neonatal ichthyosis-sclerosing cholangitis syndrome UMLS:C1843355|SCTID:724278007|Orphanet:59303|OMIM:607626|MESH:C564365|GARD:0010583 owl:Class UBERON:0009920 biolink:NamedThing optic neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011875 biolink:NamedThing ligament of sternoclavicular joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006906 biolink:NamedThing pigmented villonodular synovitis Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursae (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment. tmpaxzxjjyw_mondo_relaxed.owl TGCT|diffuse-type GCT|tenosynovial giant cell tumor|TSGCT|diffuse-type giant cell tumor|villonodular synovitis|diffuse Giant cell tumor of Tenosynovium|tenosynovial giant cell tumors|villous tenosynovitis|localized pigmented villonodular synovitis|diffuse pigmented villonodular synovitis MESH:D013586|UMLS:C0039106|ICD10:M12.2|ICD9:719.28|ICD9:719.2|EFO:1001106|ICD10:M12.20|Orphanet:66627|ICD9:719.20|SCTID:95412009|DOID:9898|GARD:0007396|DOID:2702 MONDO:0004916 https://rarediseases.info.nih.gov/diseases/7396/pigmented-villonodular-synovitis owl:Class HP:0000633 biolink:NamedThing Decreased lacrimation Abnormally decreased lacrimation, that is, reduced ability to produce tears. tmpaxzxjjyw_mondo_relaxed.owl Decreased tear secretion UMLS:C0235857 human_phenotype owl:Class HP:0000632 biolink:NamedThing Lacrimation abnormality Abnormality of tear production. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of tear production UMLS:C4021801 HP:0000521 human_phenotype owl:Class MONDO:0007725 biolink:NamedThing hereditary progressive mucinous histiocytosis Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis. tmpaxzxjjyw_mondo_relaxed.owl histiocytosis, progressive mucinous Orphanet:158025|MESH:C564186|OMIM:142630|ICD10:D76.3|UMLS:C1840586 owl:Class MONDO:0037105 biolink:NamedThing lung germ cell tumor A germ cell tumor that arises from the lung. tmpaxzxjjyw_mondo_relaxed.owl lung germ cell neoplasm|lung germ cell tumor NCIT:C45636|UMLS:C1708771 owl:Class SO:0001784 biolink:NamedThing complex_structural_alteration A structural sequence alteration or rearrangement encompassing one or more genome fragments, with 4 or more breakpoints. tmpaxzxjjyw_mondo_relaxed.owl complex chromosomal mutation|complex_chromosomal_mutation|complex owl:Class SO:0001785 biolink:NamedThing structural_alteration An alteration of the genome that leads to a change in the structure of one or more chromosomes. tmpaxzxjjyw_mondo_relaxed.owl structural alteration owl:Class MONDO:0045004 biolink:NamedThing skeletal ligament disorder A disease or disorder that involves the skeletal ligament. tmpaxzxjjyw_mondo_relaxed.owl skeletal ligament disease or disorder|disease or disorder of skeletal ligament|disorder of skeletal ligament|disease of skeletal ligament owl:Class GO:0070613 biolink:NamedThing regulation of protein processing Any process that modulates the frequency, rate or extent of protein processing, a protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. tmpaxzxjjyw_mondo_relaxed.owl regulation of protein maturation by peptide bond cleavage owl:Class MONDO:0001507 biolink:NamedThing viral labyrinthitis An labyrinthitis caused by infection with Viruses. tmpaxzxjjyw_mondo_relaxed.owl Viruses caused labyrinthitis|epidemic vertigo (finding)|Viruses labyrinthitis|epidemic vertigo DOID:12357|SCTID:409711008|ICD9:386.35|UMLS:C0155508 owl:Class GO:2000736 biolink:NamedThing regulation of stem cell differentiation Any process that modulates the frequency, rate or extent of stem cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014694 biolink:NamedThing spondylocostal dysostosis 6, autosomal recessive Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene. tmpaxzxjjyw_mondo_relaxed.owl spondylocostal dysostosis 6, autosomal recessive|SCDO6|RIPPLY2 autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2|spondylocostal dysostosis 6 GARD:0012807|OMIM:616566|UMLS:C4225279|Orphanet:2311 owl:Class MONDO:0002455 biolink:NamedThing exocervical carcinoma A carcinoma that arises from the squamous epithelium of the exocervix. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of ectocervix|ectocervix carcinoma|exocervical cancer|carcinoma of exocervix|exocervical carcinoma|exocervix carcinoma|carcinoma of the exocervix NCIT:C7453|DOID:2892|SCTID:372100004|UMLS:C1299238 owl:Class UBERON:0007687 biolink:NamedThing kidney field tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006596 biolink:NamedThing photoallergic dermatitis A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin. tmpaxzxjjyw_mondo_relaxed.owl photoallergic eczema|photoallergic contact dermatitis ICD9:692.72|SCTID:111209006|Wikipedia:Photodermatitis|UMLS:C0162824|EFO:1000751|DOID:3818|MESH:D017454 owl:Class MONDO:0006597 biolink:NamedThing photosensitivity disease Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy. tmpaxzxjjyw_mondo_relaxed.owl disorders, photosensitivity|photosensitivity disorder|photosensitization|disorder, photosensitivity|photodermatitides|photodermatitis|photodermatosis UMLS:C0031762|EFO:1000752|DOID:3159|SCTID:22649008|MESH:D010787 owl:Class MONDO:0019003 biolink:NamedThing multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia, a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC). tmpaxzxjjyw_mondo_relaxed.owl MEN2|multiple endocrine neoplasia type 2 Orphanet:653|UMLS:C0025268|ICD10:D44.8|OMIM:162300|MedDRA:10028191|OMIM:155240|NCIT:C123329|UMLS:CN073359|OMIM:171400|GARD:0003830|UMLS:C4048306|ICD9:258.02|ICD9:194.8|SCTID:61808009 https://rarediseases.info.nih.gov/diseases/3830/multiple-endocrine-neoplasia-type-2 owl:Class MONDO:0018538 biolink:NamedThing inherited digestive cancer-predisposing syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:425003|UMLS:CN237539 owl:Class MONDO:0030602 biolink:NamedThing Klebsiella pneumonia An pneumonia caused by infection with Klebsiella. tmpaxzxjjyw_mondo_relaxed.owl Klebsiella caused pneumonia|pneumonia due to Klebsiella pneumoniae|pneumonia caused by Klebsiella pneumoniae|pneumonia due to Klebsiella pneumoniae (disorder) ICD9:482.0|DOID:13272|ICD10:J15.0|UMLS:C0519030|SCTID:64479007 owl:Class MONDO:0010974 biolink:NamedThing nephrotic syndrome, type 2 Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene. tmpaxzxjjyw_mondo_relaxed.owl nephrotic syndrome, type 2|nephrotic syndrome caused by mutation in NPHS2|NPHS2 nephrotic syndrome|nephrotic syndrome, steroid-resistant, autosomal recessive|NPHS2|SRN1|nephrotic syndrome, idiopathic, steroid-resistant OMIM:600995|GARD:0003946|DOID:0080379|UMLS:C1868672 owl:Class MONDO:0004345 biolink:NamedThing childhood malignant schwannoma A malignant peripheral nerve sheath tumor occurring in children. tmpaxzxjjyw_mondo_relaxed.owl childhood malignant tumor of peripheral nerve sheath|childhood malignant neurilemmoma|pediatric malignant neurilemmoma|pediatric malignant peripheral nerve sheath neoplasm|childhood malignant schwannoma|childhood malignant tumor of the peripheral nerve sheath|pediatric malignant tumor of peripheral nerve sheath|pediatric malignant neoplasm of peripheral nerve sheath|malignant peripheral nerve sheath tumor|childhood neurogenic sarcoma|pediatric malignant schwannoma|childhood malignant neoplasm of peripheral nerve sheath|pediatric malignant peripheral nerve sheath tumor|pediatric malignant neoplasm of the peripheral nerve sheath|childhood malignant peripheral nerve sheath neoplasm|childhood malignant peripheral nerve sheath tumor|pediatric MPNST|pediatric malignant tumor of the peripheral nerve sheath|childhood MPNST|childhood malignant neoplasm of the peripheral nerve sheath|childhood neurofibrosarcoma NCIT:C8094|DOID:7732|UMLS:C0279987 owl:Class MONDO:0018890 biolink:NamedThing Lyell syndrome Lyell syndrome is an extended form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving more than 30% of the body surface area. tmpaxzxjjyw_mondo_relaxed.owl ICD10:L51.2|UMLS:CN205258|UMLS:C0014518|Orphanet:537 owl:Class MONDO:0019810 biolink:NamedThing toxic epidermal necrolysis Toxic epidermal necrolysis (TEN) is an acute and severe skin disease with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes. tmpaxzxjjyw_mondo_relaxed.owl Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum|SJS-TEN|toxic epidermolysis|Lyell syndrome|TEN|Lyell's syndrome OMIM:608579|SCTID:23067006|MedDRA:10044223|Orphanet:95455|EFO:0004775|ICD10:L51.2|NCIT:C79777|GARD:0007743|ICD9:695.15|UMLS:C0014518 https://rarediseases.info.nih.gov/diseases/7743/toxic-epidermal-necrolysis owl:Class MONDO:0011532 biolink:NamedThing hereditary spastic paraplegia 13 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary spastic paraplegia type 13|autosomal dominant spastic paraplegia type 13|spastic paraplegia 13, autosomal dominant|HSPD1 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in HSPD1|spastic paraplegia 13|autosomal dominant spastic paraplegia 13|SPG13 ICD10:G11.4|OMIM:605280|UMLS:C1854467|Orphanet:100994|MESH:C537485|GARD:0009616|DOID:0110766 owl:Class CHEBI:48359 biolink:NamedThing protophilic solvent Solvent that is capable of acting as a hydron (proton) acceptor. tmpaxzxjjyw_mondo_relaxed.owl hydrogen bond acceptor solvent|HBA solvent|protophilic solvent owl:Class CHEBI:39142 biolink:NamedThing Bronsted base A molecular entity capable of accepting a hydron from a donor (Bronsted acid). tmpaxzxjjyw_mondo_relaxed.owl Bronsted base|Bronsted-Base|accepteur d'hydron|base de Bronsted|hydron acceptor owl:Class MONDO:0006901 biolink:NamedThing peritoneal neoplasm A benign or malignant neoplasm that affects the peritoneal cavity. Representative examples of benign neoplasms include adenomatoid tumor and disseminated peritoneal leiomyomatosis. Representative examples of malignant neoplasms include primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. tmpaxzxjjyw_mondo_relaxed.owl peritoneum neoplasm|peritoneal neoplasm|peritoneum tumor|tumor of peritoneum|neoplasm of peritoneum|peritoneum neoplasm (disease) EFO:1001100|NCIT:C3322|MESH:D010534|MedDRA:10061344|SCTID:126865007 owl:Class MONDO:0019821 biolink:NamedThing aneurysm or dilatation of ascending aorta tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q25.4|Orphanet:95484 owl:Class MONDO:0016201 biolink:NamedThing qualitative or quantitative defects of myotilin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209224 owl:Class MONDO:0033479 biolink:NamedThing spinocerebellar ataxia 44 tmpaxzxjjyw_mondo_relaxed.owl SCA44|spinocerebellar ataxia 44 OMIM:617691|DOID:0080286|UMLS:CN492437 owl:Class GO:0002200 biolink:NamedThing somatic diversification of immune receptors The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006322 biolink:NamedThing non-neoplastic bile duct disorder A non-neoplastic disorder that affects the intrahepatic or extrahepatic bile ducts. Representative examples include cholangitis and biliary atresia. tmpaxzxjjyw_mondo_relaxed.owl non-neoplastic bile duct disorder UMLS:C3275160|EFO:1000400|NCIT:C35774 owl:Class GO:1903796 biolink:NamedThing negative regulation of inorganic anion transmembrane transport Any process that stops, prevents or reduces the frequency, rate or extent of inorganic anion transmembrane transport. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of transmembrane inorganic anion transport|down-regulation of transmembrane inorganic anion transport|down regulation of transmembrane inorganic anion transport|inhibition of transmembrane inorganic anion transport|downregulation of inorganic anion membrane transport|downregulation of transmembrane inorganic anion transport|down-regulation of inorganic anion membrane transport|downregulation of inorganic anion transmembrane transport|inhibition of inorganic anion membrane transport|down regulation of inorganic anion membrane transport|inhibition of inorganic anion transmembrane transport|down-regulation of inorganic anion transmembrane transport|negative regulation of inorganic anion membrane transport|down regulation of inorganic anion transmembrane transport owl:Class GO:1903795 biolink:NamedThing regulation of inorganic anion transmembrane transport Any process that modulates the frequency, rate or extent of inorganic anion transmembrane transport. tmpaxzxjjyw_mondo_relaxed.owl regulation of inorganic anion membrane transport|regulation of transmembrane inorganic anion transport owl:Class MONDO:0016472 biolink:NamedThing dracunculiasis Dracunculiasis (Guinea worm disease) is a neglected tropical disease (NTD) characterized by a painful burning skin lesion from which the Dracunculus medinensis parasite emerges approximately 1 year after infection resulting from consumption of unsafe drinking water containing parasite-infected copepods (Cyclops spp., microcrustacea also called water fleas). tmpaxzxjjyw_mondo_relaxed.owl Medina worm disease|Guinea worm disease|Dracunculus medinensis infectious disease|Dracunculus medinensis disease or disorder|Dracunculus medinensis caused disease or disorder|GWD|Dracunculosis|dracontiasis|medinensis|parasitic infection caused by Dracunculus medinensis|infection by Dracunculus medinensis|Guinea worm infection EFO:0007241|ICD9:125.7|UMLS:C0013100|ICD10:B72|Orphanet:231|MESH:D004320|DOID:14418|NCIT:C84677|MedDRA:10013618|GARD:0006286|SCTID:396334002 https://rarediseases.info.nih.gov/diseases/6286/dracunculiasis owl:Class MONDO:0044984 biolink:NamedThing nasolacrimal duct disorder A disease or disorder that involves the nasolacrimal duct. tmpaxzxjjyw_mondo_relaxed.owl disorder of nasolacrimal duct|nasolacrimal duct disease or disorder|disease of nasolacrimal duct|nasolacrimal duct disease|disease or disorder of nasolacrimal duct UMLS:C0521744|SCTID:95767006 owl:Class MONDO:0000466 biolink:NamedThing first-degree atrioventricular block A disorder characterized by an electrocardiographic finding of prolonged PR interval for a specific population. For adults one common threshold is a PR interval greater than 0.20 seconds. tmpaxzxjjyw_mondo_relaxed.owl atrioventricular block, first degree|first degree atrioventricular block|atrioventricular block first degree|AV block first degree|first degree AV block UMLS:C0085614|ICD9:426.11|DOID:0050821|NCIT:C62015|SCTID:270492004 owl:Class MONDO:0005896 biolink:NamedThing Paramyxoviridae infectious disease Infections with viruses of the family paramyxoviridae. This includes morbillivirus infections; respirovirus infections; pneumovirus infections; henipavirus infections; avulavirus infections; and rubulavirus infections. tmpaxzxjjyw_mondo_relaxed.owl Paramyxoviridae disease or disorder|Paramyxoviridae caused disease or disorder MESH:D018184|EFO:0007419 owl:Class MONDO:0005856 biolink:NamedThing Mononegavirales infectious disease Infections with viruses of the order mononegavirales. The concept includes filoviridae infections; paramyxoviridae infections; and rhabdoviridae infections. tmpaxzxjjyw_mondo_relaxed.owl Mononegavirales disease or disorder|Mononegavirales caused disease or disorder MESH:D018701|EFO:0007376|UMLS:C0242916 owl:Class MONDO:0003312 biolink:NamedThing ovarian endometrioid stromal and related neoplasms A category of rare neoplasms that arise from the ovary. It includes low grade endometrioid stromal sarcoma and undifferentiated sarcoma. tmpaxzxjjyw_mondo_relaxed.owl ovarian endometrioid stromal sarcoma|ovary endometrioid stromal and related neoplasms|ovarian endometrioid stromal and related neoplasms|endometrioid stromal and related neoplasms of ovary UMLS:C4288544|NCIT:C40065|DOID:5169 owl:Class MONDO:0006217 biolink:NamedThing gallbladder adenosquamous carcinoma A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components. tmpaxzxjjyw_mondo_relaxed.owl gallbladder adenosquamous cancer|adenosquamous carcinoma of the gallbladder|adenosquamous carcinoma of gallbladder|GBASC|adenosquamous gallbladder carcinoma|gallbladder adenosquamous carcinoma|gall bladder adenosquamous carcinoma NCIT:C7356|ONCOTREE:GBASC|EFO:1000264|UMLS:C1333741|DOID:5627 owl:Class GO:0010566 biolink:NamedThing regulation of ketone biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a ketone, carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010565 biolink:NamedThing regulation of cellular ketone metabolic process Any process that modulates the chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005188 biolink:NamedThing iatrogenic Kaposi's sarcoma A Kaposi sarcoma that develops after organ transplantation or immunosuppressive treatment. tmpaxzxjjyw_mondo_relaxed.owl iatrogenic Kaposi sarcoma|iatrogenic Kaposi's sarcoma NCIT:C35873|UMLS:C1334149|EFO:0002613 owl:Class MONDO:0004788 biolink:NamedThing cervix squamous papilloma A papilloma that arises from the squamous epithelium of the cervix. tmpaxzxjjyw_mondo_relaxed.owl cervix uteri squamous papilloma|squamous papilloma of the uterine cervix|squamous papilloma of cervix|cervical squamous papilloma|uterine cervix squamous papilloma|squamous papilloma of the cervix|squamous papilloma of the cervix uteri|squamous papilloma of cervix uteri|squamous papilloma of uterine cervix|cervix squamous papilloma DOID:9445|NCIT:C6342|UMLS:C1336900 owl:Class MONDO:0001825 biolink:NamedThing squamous papilloma A benign epithelial neoplasm characterized by a papillary growth pattern and a proliferation of neoplastic squamous cells without morphologic evidence of malignancy. Most frequently it arises in the oral cavity, nasopharynx, larynx, esophagus, vagina, and vulva. tmpaxzxjjyw_mondo_relaxed.owl squamous cell papilloma|keratotic papilloma|squamous papilloma|epidermoid cell papilloma|papilloma, squamous cell, benign|squamous cell papilloma (morphologic abnormality)|epidermoid papilloma DOID:139|NCIT:C3712|MESH:D010212|ICDO:8052/0|UMLS:C0205874|EFO:1001970 owl:Class MONDO:0014752 biolink:NamedThing nephrotic syndrome, type 11 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene. tmpaxzxjjyw_mondo_relaxed.owl familial nephrotic syndrome caused by mutation in Nup107|NPHS11|nephrotic syndrome, type 11|NUP107 familial nephrotic syndrome|Nup107 familial nephrotic syndrome|familial nephrotic syndrome caused by mutation in NUP107|nephrotic syndrome, type 11; NPHS11 DOID:0080385|OMIM:616730|UMLS:C4225228 owl:Class MONDO:0019006 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome is characterized by a nephrotic syndrome with often early onset. tmpaxzxjjyw_mondo_relaxed.owl familial idiopathic nephrotic syndrome ICD10:N04.3|OMIM:603278|OMIM:615573|OMIM:615244|ICD10:N04.8|OMIM:600995|ICD10:N04.1|OMIM:616730|OMIM:603965|Orphanet:656|OMIM:616220|OMIM:256370|OMIM:614196|UMLS:C4273714|OMIM:616892|UMLS:CN536255|OMIM:614131|OMIM:616032|OMIM:613237|OMIM:610725|OMIM:616893|SCTID:718141008|OMIM:616002|OMIM:615861|UMLS:C1868672|OMIM:607832 owl:Class MONDO:0015683 biolink:NamedThing primary malignant peritoneal tumor tmpaxzxjjyw_mondo_relaxed.owl ICD10:C48.2|ICD10:C45.1|UMLS:CN200181|ICD10:C48.1|Orphanet:168807 owl:Class HGNC:4081 biolink:NamedThing GABRB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010505 biolink:NamedThing intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males. tmpaxzxjjyw_mondo_relaxed.owl SHLTS|Scholte syndrome|Scholte-Begeer-van Essen syndrome|SCHOLTE syndrome|early balding, patella luxation, acromicria, and hypogonadism|early balding, patella luxation, acromicria and hypogonadism SCTID:722002002|OMIM:300977|ICD10:Q87.8|Orphanet:3041|MESH:C536638|GARD:0000257|UMLS:C1866985 owl:Class MONDO:0010708 biolink:NamedThing Pallister-W syndrome W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant. tmpaxzxjjyw_mondo_relaxed.owl Pallister W syndrome|median cleft upper lip, intellectual disability and pugilistic facies|Pallister-W syndrome|median cleft upper lip, mental retardation and pugilistic facies|W syndrome GARD:0000358|MESH:C538106|SCTID:719020006|UMLS:C0796110|ICD10:Q87.8|OMIM:311450|Orphanet:2804 owl:Class MONDO:0015650 biolink:NamedThing epilepsy syndrome tmpaxzxjjyw_mondo_relaxed.owl syndromic epilepsy|epileptic syndrome Orphanet:166463 owl:Class CL:2000004 biolink:NamedThing pituitary gland cell Any cell that is part of a pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-03-26T22:14:56Z cell owl:Class GO:0050870 biolink:NamedThing positive regulation of T cell activation Any process that activates or increases the frequency, rate or extent of T cell activation. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of T-lymphocyte activation|positive regulation of T lymphocyte activation|up-regulation of T cell activation|activation of T cell activation|upregulation of T cell activation|up regulation of T cell activation|positive regulation of T-cell activation|stimulation of T cell activation owl:Class MONDO:0019120 biolink:NamedThing pili bifurcati Pili bifurcati is an uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle. tmpaxzxjjyw_mondo_relaxed.owl SCTID:717360009|ICD10:L67.8|Orphanet:720 owl:Class MONDO:0010104 biolink:NamedThing non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. tmpaxzxjjyw_mondo_relaxed.owl multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|Stoelinga de Koomen Davis syndrome|multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects|teeth, noneruption of, with maxillary hypoplasia and genu valgum|Stoelinga-de Koomen-Davis syndrome|teeth noneruption of with maxillary hypoplasia and genu valgum|non erupted teeth with maxillary hypoplasia and genu valgum Orphanet:2972|UMLS:C1848903|GARD:0005027|SCTID:723442008|OMIM:273050|GARD:0005127 owl:Class MONDO:0021764 biolink:NamedThing acrofacial dysostosis preis type Acrofacial dysostosis with pre-and postaxial involvement; a postaxial defect of the right, and a preaxial defect of the left hand. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000495 https://rarediseases.info.nih.gov/diseases/495/acrofacial-dysostosis-preis-type owl:Class MONDO:0000664 biolink:NamedThing apperceptive agnosia An agnosia that is a loss of the ability to distinguish visual shapes. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060134 owl:Class MONDO:0003840 biolink:NamedThing epicardium lipoma A rare benign adipose tissue neoplasm of the epicardium of the heart. tmpaxzxjjyw_mondo_relaxed.owl epicardium lipoma|lipoma of epicardium|epicardial lipoma|lipoma of the epicardium DOID:6284|UMLS:C1333411|NCIT:C6742 owl:Class MONDO:0021508 biolink:NamedThing benign neoplasm of epicardium A benign neoplasm that involves the epicardium. tmpaxzxjjyw_mondo_relaxed.owl benign epicardial tumor|benign neoplasm of the epicardium|benign tumor of the epicardium|epicardium benign neoplasm|benign tumor of epicardium|benign epicardial neoplasm NCIT:C8535|UMLS:C0685115|SCTID:92087008 owl:Class HGNC:414 biolink:NamedThing ALDOA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020052 biolink:NamedThing partial autosomal trisomy/tetrasomy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98132 owl:Class GO:0046326 biolink:NamedThing positive regulation of glucose import Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of glucose import|stimulation of glucose import|up regulation of glucose import|positive regulation of glucose uptake|activation of glucose import|upregulation of glucose import owl:Class MONDO:0010702 biolink:NamedThing orofaciodigital syndrome I Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. tmpaxzxjjyw_mondo_relaxed.owl orofaciodigital syndrome type 1|OFDI|oral-facial-digital syndrome type 1|OFD syndrome 1|oral facial digital syndrome 1|Papillon-Léage-Psaume syndrome|OFD1|Papillon-Leage-Psaume syndrome|OFDSI|Papillon-Leage and Psaume syndrome|orofaciodigital syndrome type I|orofaciodigital syndrome 1|oral-facial-digital syndrome, type 1|Papillon-league-Psaume syndrome (formerly)|oral-facial-digital syndrome 1|oral facial digital syndrome type 1|OFDS 1|orofaciodigital syndrome I SCTID:52868006|OMIM:311200|MESH:C537134|Orphanet:2750|SCTID:1779005|UMLS:C1510460|MESH:D009958|ICD10:Q87.0|UMLS:C2698658|NCIT:C75481|GARD:0004121|DOID:0060316|SCTID:763833006 owl:Class MONDO:0002766 biolink:NamedThing larynx verrucous carcinoma A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction. tmpaxzxjjyw_mondo_relaxed.owl laryngeal throat verrucous cancer|laryngeal verrucous carcinoma|verrucous carcinoma of larynx|larynx verrucous carcinoma|verrucous carcinoma of the larynx SCTID:707427000|DOID:3752|UMLS:C0280328|NCIT:C8188 owl:Class MONDO:0004573 biolink:NamedThing ariboflavinosis A dietary deficiency of riboflavin causing a syndrome chiefly marked by cheilitis, angular stomatitis, glossitis associated with a purplish red or magenta-colored tongue that may show fissures, corneal vascularization, dyssebacia, and anemia. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl riboflavin deficiency|vitamin B2 deficiency ICD10:E53.0|OMIM:615026|ICD9:266.0|DOID:8454|SCTID:20307000 owl:Class NCBITaxon:3398 biolink:NamedThing Magnoliopsida tmpaxzxjjyw_mondo_relaxed.owl flowering plants|Magnoliophyta|angiosperms|Angiospermae GC_ID:1|PMID:25249442 ncbi_taxonomy owl:Class NCBITaxon:58024 biolink:NamedThing Spermatophyta tmpaxzxjjyw_mondo_relaxed.owl seed plants GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010066 biolink:NamedThing familial isolated congenital asplenia Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. tmpaxzxjjyw_mondo_relaxed.owl ICAS|asplenia, isolated congenital|hyposplenia, isolated congenital|splenic hypoplasia|asplenia, familial SCTID:726708009|Orphanet:101351|MESH:C563028|OMIM:271400|ICD10:Q89.0 owl:Class MONDO:0023646 biolink:NamedThing lipodermatosclerosis Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression therapy. tmpaxzxjjyw_mondo_relaxed.owl acute lipodermatosclerosis|hypodermitis sclerodermaformis|sclerosing panniculitis SCTID:410016009|GARD:0009671|UMLS:C0406500|MESH:C537026 https://rarediseases.info.nih.gov/diseases/9671/lipodermatosclerosis owl:Class MONDO:0014295 biolink:NamedThing hereditary spastic paraplegia 57 An extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy, and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. SPG57 is caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia 57, autosomal recessive|SPG57|TFG hereditary spastic paraplegia|autosomal recessive spastic paraplegia type 57|hereditary spastic paraplegia caused by mutation in TFG|hereditary spastic paraplegia type 57|autosomal recessive spastic paraplegia 57|spastic paraplegia due to partial TFG deficiency Orphanet:431329|UMLS:C4510084|OMIM:615658|DOID:0110809|ICD10:G11.4|EFO:0009017|UMLS:C3714897|SCTID:723826007 owl:Class CHEBI:84087 biolink:NamedThing human urinary metabolite Any metabolite (endogenous or exogenous) found in human urine samples. tmpaxzxjjyw_mondo_relaxed.owl human urinary metabolites owl:Class CHEBI:77746 biolink:NamedThing human metabolite Any mammalian metabolite produced during a metabolic reaction in humans (Homo sapiens). tmpaxzxjjyw_mondo_relaxed.owl H. sapiens metabolite|H. sapiens metabolites|Homo sapiens metabolites|Homo sapiens metabolite owl:Class MONDO:0001832 biolink:NamedThing bacterial esophagitis An acute bacterial infection that affects the esophagus. Symptoms include severe pain on swallowing and retrosternal pain. Endoscopic examination reveals esophageal mucosal ulcerations and pseudomembranous formations. tmpaxzxjjyw_mondo_relaxed.owl bacterial esophagitis NCIT:C27106|UMLS:C0341108|SCTID:235601001|DOID:13921 owl:Class MONDO:0011250 biolink:NamedThing microcephaly, macrotia, and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl microcephaly, macrotia, and intellectual disability|microcephaly, macrotia, and mental retardation OMIM:602555|MESH:C566525|UMLS:C1865204 owl:Class MONDO:0019102 biolink:NamedThing dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterised by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl SCTID:721089006|Orphanet:71267|UMLS:CN205609 owl:Class MONDO:0015086 biolink:NamedThing cloverleaf skull-asphyxiating thoracic dysplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl cloverleaf skull and asphyxiating thoracic dysplasia|Benallegue Lacete syndrome|Benallegue-Lacete syndrome GARD:0000853|Orphanet:100978|ICD10:Q87.5|UMLS:CN197384 https://rarediseases.info.nih.gov/diseases/853/benallegue-lacete-syndrome owl:Class MONDO:0010741 biolink:NamedThing tooth agenesis, selective, X-linked, 1 Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene. tmpaxzxjjyw_mondo_relaxed.owl tooth agenesis, selective, X-linked, type 1|STHAGX1|tooth agenesis, selective, X-linked, 1|tooth agenesis caused by mutation in EDA|EDA tooth agenesis|hypodontia/oligodontia, X-linked, 1 MESH:C567060|OMIM:313500|UMLS:C1970757|Orphanet:99798 owl:Class MONDO:0005486 biolink:NamedThing tooth agenesis A rare developmental dental anomaly in humans characterized by the absence of six or more teeth. tmpaxzxjjyw_mondo_relaxed.owl tooth agenesis, selective|hypodontia|selective tooth agenesis|oligodontia|familial tooth agenesis ICD9:520.0|ICD10:K00.0|OMIM:106600|DOID:0050591|OMIM:313500|OMIM:610926|OMIM:617073|MESH:D000848|OMIM:604625|SCTID:64969001|OMIM:616724|SCTID:16958000|Orphanet:2227|OMIM:150400|OMIMPS:106600|OMIM:602639|Orphanet:99798|EFO:0005410|UMLS:CN169366 owl:Class MONDO:0002965 biolink:NamedThing parovarian cyst A cyst (cysts) near the ovary, derived from anomalies of the fallopian tubes or the broad ligament. The paramesonephric type consists of ciliated cells similar to the oviduct epithelium. The mesonephric type consisted of an epithelium with minimally surface structures. They can be found on the thin oviduct (paratubal cysts) or near its fimbriated end (hydatid of Morgagni). tmpaxzxjjyw_mondo_relaxed.owl Morgagni hydatid cysts|parovarian cyst|cyst, parovarian|hydatid of Morgagni|cyst, fimbrial|Paratubal cysts|cysts, Paratubal|parovarian cysts|Morgagni hydatid|cysts, parovarian|hydatid cyst of Morgagni|fimbrial cyst|Morgagni hydatid cyst|embryonic fimbrial cyst|Morgagni Hydatids|cyst, Paratubal|Paratubal cyst DOID:4333|ICD10:Q50.5|MESH:D010310|ICD10:Q50.4|SCTID:64233004|UMLS:C0030584 owl:Class MONDO:0024652 biolink:NamedThing embryonic cyst of fallopian tube tmpaxzxjjyw_mondo_relaxed.owl embryonic cyst of fallopian tube|cyst of mesenteric remnant SCTID:302954008|ICD10:Q50.4 owl:Class MONDO:0002910 biolink:NamedThing peroneal neuropathy Disease involving the common peroneal nerve or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with paralysis of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the fibula is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31) tmpaxzxjjyw_mondo_relaxed.owl peroneal neuropathy NCIT:C27596|DOID:4201|UMLS:C0747533|MESH:D020427 owl:Class MONDO:0018660 biolink:NamedThing hemophilia Hemophilia is a genetic disorder characterized by spontaneous hemorrhage or prolonged bleeding due to factor VIII or IX deficiency. tmpaxzxjjyw_mondo_relaxed.owl hemophilia Orphanet:448|NCIT:C3093|SCTID:90935002|GARD:0010418|UMLS:C0684275|MedDRA:10061992 owl:Class CHEBI:22712 biolink:NamedThing benzenes Any benzenoid aromatic compound consisting of the benzene skeleton and its substituted derivatives. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021921 biolink:NamedThing Arnold stickler bourne syndrome tmpaxzxjjyw_mondo_relaxed.owl corneal crystals myopathy and neuropathy|corneal crystals myopathy and nephropathy MESH:C537431|UMLS:C2931492|GARD:0000366 https://rarediseases.info.nih.gov/diseases/366/arnold-stickler-bourne-syndrome owl:Class MONDO:0004323 biolink:NamedThing muscular atrophy The loss of muscle tissue due to inactivity or disease. tmpaxzxjjyw_mondo_relaxed.owl wasting - muscle|amyotrophia|muscle wasting MESH:D009133|DOID:767|SCTID:88092000|NCIT:C94834|ICD9:728.2 owl:Class MONDO:0008995 biolink:NamedThing Yunis-Varon syndrome Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia|cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|Yunis-Varon syndrome|Yunis Varon syndrome|cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia|YVS|Yunis-Varón syndrome|cleidocranial dysplasia-micrognathia-absent thumbs syndrome OMIM:216340|UMLS:C1857663|DOID:0060589|MESH:C536719|ICD10:Q87.8|GARD:0000331|Orphanet:3472 https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome owl:Class MONDO:0009597 biolink:NamedThing metaphyseal chondrodysplasia, Spahr type tmpaxzxjjyw_mondo_relaxed.owl metaphyseal chondrodysplasia, Spahr type|Spahr type metaphyseal chondrodysplasia|metaphyseal chondrodysplasia Spahr type|MDST|metaphyseal dysplasia, Spahr type UMLS:C0432225|ICD10:Q78.5|Orphanet:2501|SCTID:254084008|MESH:C537353|GARD:0003563|OMIM:250400 owl:Class UBERON:0007425 biolink:NamedThing decussation of diencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004931 biolink:NamedThing residual stage corticosteroid-induced glaucoma tmpaxzxjjyw_mondo_relaxed.owl DOID:9948|SCTID:193549003|UMLS:C0339580|ICD9:365.32 owl:Class MONDO:0004232 biolink:NamedThing large cell keratinizing variant squamous cell breast carcinoma A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of large malignant cells that exhibit keratinization. tmpaxzxjjyw_mondo_relaxed.owl squamous cell breast carcinoma, large cell keratinizing variant NCIT:C40357|DOID:7461|UMLS:C1519486 owl:Class MONDO:0006056 biolink:NamedThing squamous cell breast carcinoma A rare carcinoma that arises from the breast parenchyma and is entirely composed of squamous cells. tmpaxzxjjyw_mondo_relaxed.owl primary squamous cell breast carcinoma|primary squamous cell carcinoma of the breast|squamous cell carcinoma of the breast|squamous breast carcinoma|squamous cell carcinoma of breast|breast primary squamous cell carcinoma|squamous carcinoma of the breast|squamous cell breast carcinoma|metaplastic squamous cell carcinoma|squamous carcinoma of breast|breast squamous cell carcinoma|scc of the breast|scc of breast|primary squamous cell carcinoma of breast NCIT:C5177|EFO:1000053|ONCOTREE:MSCC|DOID:5514|UMLS:C1336079 owl:Class MONDO:0009727 biolink:NamedThing atelosteogenesis type II Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene. tmpaxzxjjyw_mondo_relaxed.owl AO2|neonatal osseous dysplasia 1|atelosteogenesis type 2|atelosteogenesis type II|atelosteogenesis, type II|Aoii|AOII|atelosteogenesis, type 2|De 50A Chapelle dysplasia|atelosteogenesis II|De la Chapelle dysplasia|neonatal osseous dysplasia type 1 OMIM:256050|GARD:0008329|Orphanet:56304|UMLS:C1850555|ICD10:Q77.5|UMLS:C1850554|SCTID:254055004|MESH:C535395|ICD9:756.9 owl:Class ENVO:01001788 biolink:NamedThing marine ecosystem tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000320 biolink:NamedThing marine environment A marine environment and enviroment which is determined by a marine water body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002233 biolink:NamedThing leukocyte chemotaxis involved in immune response The movement of an immune cell in response to an external stimulus a part of an immune response. tmpaxzxjjyw_mondo_relaxed.owl leucocyte chemotaxis during immune response|immune cell chemotaxis during immune response owl:Class GO:0030595 biolink:NamedThing leukocyte chemotaxis The movement of a leukocyte in response to an external stimulus. tmpaxzxjjyw_mondo_relaxed.owl leucocyte chemotaxis|immune cell chemotaxis owl:Class MONDO:0019735 biolink:NamedThing polymyalgia rheumatica A syndrome characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. There is no muscle atrophy and muscle biopsies do not reveal pathologic changes. Additional signs and symptoms include low grade fever, fatigue and depression. tmpaxzxjjyw_mondo_relaxed.owl polymyalgia rheumatica|rhizomelic pseudopolyarthritis SCTID:65323003|GARD:0004704|MESH:D011111|NCIT:C85018|ICD10:M35.3|UMLS:C1527406|Orphanet:93569|DOID:853|MedDRA:10068240|ICD9:725|UMLS:C0032533 owl:Class MONDO:0010490 biolink:NamedThing SSR4-CDG (Xq28). tmpaxzxjjyw_mondo_relaxed.owl congenital disorder of glycosylation type 1y|carbohydrate deficient glycoprotein syndrome type Iy|congenital disorder of glycosylation type Iy|CDG1Y|CDG Iy|CDGIy|CDG-Iy|CDG 1Y|CDG syndrome type Iy|congenital disorder of glycosylation, type Iy GARD:0012405|ICD10:E77.8|SCTID:733115009|Orphanet:370927|OMIM:300934|UMLS:C4012395|DOID:0070257 owl:Class MONDO:0019834 biolink:NamedThing pituitary hormone deficiency from meningeal origin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:95505 owl:Class MONDO:0036696 biolink:NamedThing spleen neoplasm A benign or malignant neoplasm that affects the spleen. Representative examples include hemangioma, lymphoma, splenic involvement by leukemia, and angiosarcoma. tmpaxzxjjyw_mondo_relaxed.owl spleen tumor|neoplasm of spleen|tumor of spleen|splenic neoplasm NCIT:C3383|GARD:0007683 owl:Class MONDO:0020798 biolink:NamedThing hypoparathyroidism, familial isolated, 2 tmpaxzxjjyw_mondo_relaxed.owl hypoparathyroidism, familial isolated, 2|FIH2 OMIM:618883 owl:Class MONDO:0016390 biolink:NamedThing familial hypoparathyroidism A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism due to deficient secretion of parathormone (PTH), without other endocrine disorders or developmental defects. tmpaxzxjjyw_mondo_relaxed.owl hypoparathyroidism, familial isolated|hypoparathyroidism familial isolated|familial isolated hypoparathyroidism|hypoparathyroidism, familial|FIH MESH:C537156|UMLS:C1832648|OMIM:146200|OMIM:615361|OMIM:601198|ICD10:E20.8|OMIMPS:146200|SCTID:725036000|DOID:0111387|Orphanet:2238|GARD:0002910|OMIM:307700 owl:Class GO:0014060 biolink:NamedThing regulation of epinephrine secretion Any process that modulates the frequency, rate or extent of the regulated release of epinephrine. tmpaxzxjjyw_mondo_relaxed.owl regulation of adrenaline secretion owl:Class HGNC:6156 biolink:NamedThing ITGB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007518 biolink:NamedThing edema, familial idiopathic, prepubertal tmpaxzxjjyw_mondo_relaxed.owl edema, familial idiopathic, prepubertal OMIM:129840|UMLS:C1851847|MESH:C565063 owl:Class MONDO:0001732 biolink:NamedThing trigonitis Inflammation of the trigone of the urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl inflammation of trigone of urinary bladder|trigone of urinary bladder inflammation SCTID:74445007|UMLS:C1261278|ICD10:N30.3|DOID:13507|ICD9:595.3|NCIT:C123175 owl:Class GO:0010562 biolink:NamedThing positive regulation of phosphorus metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000148 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, telomere-related tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:614742|UMLS:CN262497 See genetic heterogeneity of OMIM 614742. owl:Class MONDO:0002771 biolink:NamedThing pulmonary fibrosis Chronic progressive interstitial lung disorder characterized by the replacement of the lung tissue by connective tissue, leading to progressive dyspnea, respiratory failure, or right heart failure. Causes include chronic inflammatory processes, exposure to environmental irritants, radiation therapy, autoimmune disorders, certain drugs, or it may be idiopathic (no identifiable cause). tmpaxzxjjyw_mondo_relaxed.owl pulmonary interstitial fibrosis|fibrosis of lung NCIT:C26869|MESH:D011658|DOID:3770|UMLS:C0034069|SCTID:51615001 owl:Class HGNC:436 biolink:NamedThing ALOX5AP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008396 biolink:NamedThing oculodental syndrome, Rutherfurd type Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait. tmpaxzxjjyw_mondo_relaxed.owl gingival hypertrophy-corneal dystrophy|gingival hypertrophy corneal dystrophy|corneal dystrophy with gum hypertrophy|corneal dystrophy with gum Hypertrophy|gingival Hypertrophy with corneal dystrophy|Rutherfurd syndrome OMIM:180900|MESH:C537732|Orphanet:2709|ICD9:759.89|UMLS:C0796140|SCTID:699754008|GARD:0000212|ICD10:Q87.8 owl:Class MONDO:0000379 biolink:NamedThing malignant Sertoli-Leydig cell tumor A malignant form of Sertoli-leydig cell tumor. tmpaxzxjjyw_mondo_relaxed.owl Sertoli-Leydig cell tumor, malignant DOID:0050618 owl:Class MONDO:0018347 biolink:NamedThing severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome tmpaxzxjjyw_mondo_relaxed.owl IQSEC2-related syndromic intellectual disability|severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Orphanet:397933|UMLS:CN226082|ICD10:Q87.8 owl:Class MONDO:0008707 biolink:NamedThing acro-renal-mandibular syndrome Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. tmpaxzxjjyw_mondo_relaxed.owl split hand split foot mandibular hypoplasia|acro-renal-uterine-mandibular syndrome|split hand/split foot-mandibular hypoplasia syndrome|acrorenal mandibular syndrome|acrorenal-mandibular syndrome|split-hand and split-foot with mandibular hypoplasia|acrorenal-uterine-mandibular syndrome Orphanet:958|OMIM:200980|ICD10:Q87.8|SCTID:720414005|UMLS:C1860166|GARD:0000480|MESH:C535665 owl:Class MONDO:0001562 biolink:NamedThing displacement of cardia through esophageal hiatus tmpaxzxjjyw_mondo_relaxed.owl congenital hiatus hernia ICD9:750.6|SCTID:47028006|DOID:12641|ICD10:Q40.1 owl:Class MONDO:0007721 biolink:NamedThing hiatus hernia Herniation of the upper part of the stomach through the diaphragm. tmpaxzxjjyw_mondo_relaxed.owl hiatus hernia (disease)|hiatus hernia|hernia, hiatus|hiatal hernia|diaphragmatic - hiatus -hernia hiatus hernia (disease) DOID:12642|OMIM:142400|NCIT:C98945|HP:0002036|SCTID:84089009|MESH:D006551|ICD10:K44 owl:Class CHEBI:50523 biolink:NamedThing butenolide A gamma-lactone that consists of a 2-furanone skeleton and its substituted derivatives. tmpaxzxjjyw_mondo_relaxed.owl butenolides|2-furanone|furan-2-one owl:Class CHEBI:24129 biolink:NamedThing furans Compounds containing at least one furan ring. tmpaxzxjjyw_mondo_relaxed.owl oxacyclopenta-2,4-dienes owl:Class MONDO:0011289 biolink:NamedThing apraxia of eyelid opening tmpaxzxjjyw_mondo_relaxed.owl apraxia of eyelid opening OMIM:603119 owl:Class MONDO:0019418 biolink:NamedThing X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.8|UMLS:CN206173|Orphanet:85319 owl:Class MONDO:0020679 biolink:NamedThing conductive hearing loss disorder Hearing loss caused by impaired transmission of signals from the external auditory canal or middle ear to the cochlea. tmpaxzxjjyw_mondo_relaxed.owl conductive deafness|conductive hearing loss NCIT:C27645|SCTID:44057004 owl:Class NCBITaxon:194441 biolink:NamedThing Primate T-lymphotropic virus 2 tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:153136 biolink:NamedThing Deltaretrovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0000382 biolink:NamedThing apocrine sweat gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010243 biolink:NamedThing merocrine gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003447 biolink:NamedThing clear cell hidradenoma An uncommon benign neoplasm of the sweat glands characterized by the presence of clear cells. tmpaxzxjjyw_mondo_relaxed.owl clear cell hidradenoma|clear cell hidradenoma (morphologic abnormality)|clear cell myoepithelioma DOID:5443|UMLS:C1370701|NCIT:C7567 owl:Class MONDO:0002805 biolink:NamedThing hidradenoma A benign epithelial neoplasm arising from the sweat glands. Variants include the clear cell and nodular hidradenoma. tmpaxzxjjyw_mondo_relaxed.owl hidradenoma|eccrine acrospiroma|syringoadenoma|acrospiroma|hidradenoma of skin|sweat gland adenoma DOID:3896|NCIT:C7563|SCTID:253020008|NCIT:C7560 owl:Class MONDO:0002786 biolink:NamedThing diencephalic cancer A cancer involving a diencephalon. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of diencephalon|diencephalon cancer|malignant diencephalic neoplasms|malignant diencephalic neoplasm|malignant diencephalon neoplasm|diencephalic neoplasm|cancer of diencephalon|malignant diencephalic tumor|tumor of diencephalon UMLS:C1334576|NCIT:C5126|DOID:3843 owl:Class MONDO:0002071 biolink:NamedThing supratentorial cancer Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and brain STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation. tmpaxzxjjyw_mondo_relaxed.owl malignant supratentorial tumor|supratentorial neoplasms, malignant|malignant supratentorial neoplasm|brain neoplasm, supratentorial MESH:D015173|DOID:1659|ICD10:C71.0|NCIT:C4964 owl:Class GO:0006768 biolink:NamedThing biotin metabolic process The chemical reactions and pathways involving biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions. tmpaxzxjjyw_mondo_relaxed.owl vitamin H metabolic process|vitamin B7 metabolism|biotin metabolism|vitamin H metabolism|vitamin B7 metabolic process owl:Class GO:0006767 biolink:NamedThing water-soluble vitamin metabolic process The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. tmpaxzxjjyw_mondo_relaxed.owl water-soluble vitamin metabolism owl:Class MONDO:0020396 biolink:NamedThing anomaly of the tricuspid valve chordae Anomaly of the tricuspid valve chordae is a rare, congenital anomaly of the tricuspid subvalvular apparatus characterized by aberrant tendinous chords, which insert at the clear zone of the leaflet instead of its free edge and connect to the endocardium instead of the papillary muscles. Resulting tethering of one or more tricuspid leaflets leads to their impaired mobility and tricuspid regurgitation. Association with other congenital cardiac anomalies has been reported. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99055|ICD10:Q22.8 owl:Class MONDO:0019816 biolink:NamedThing anomaly of the tricuspid subvalvular apparatus tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q22.8|Orphanet:95463 owl:Class MONDO:0016104 biolink:NamedThing infectious disease with peripheral neuropathy An infectious process affecting the peripheral nerves. tmpaxzxjjyw_mondo_relaxed.owl peripheral nerve infection|peripheral nervous system infectious disorder 2022-03-01 Orphanet:206613|NCIT:C27589|UMLS:C1278821 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: infectious disease' MONDO_0005550 owl:Class MONDO:0008967 biolink:NamedThing congenital bile acid synthesis defect 4 An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease. tmpaxzxjjyw_mondo_relaxed.owl liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome|Trihydroxycoprostanic acid in bile|trihydroxycoprostanic acid in bile|cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid|congenital bile acid synthesis defect 4|cholestasis, intrahepatic, with defective conversion of|congenital bile acid synthesis defect type 4|intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid|bile acid synthesis defect, congenital, 4|BAS defect type 4|Trihydroxycoprostanic acid to cholic acid|BASD4|bile acid synthesis defect, congenital, type 4|2-methylacyl-CoA racemase deficiency|Alpha-methyl-acyl-CoA racemase deficiency|CBAS4|AMACR deficiency GARD:0010046|OMIM:614307|DOID:0111068|MESH:C535444|Orphanet:79095|UMLS:C3280428|ICD10:K76.8|OMIM:214950 https://rarediseases.info.nih.gov/diseases/10046/bile-acid-synthesis-defect-congenital-4|https://github.com/monarch-initiative/mondo/issues/1196|https://github.com/monarch-initiative/mondo/issues/2632 owl:Class CL:0002332 biolink:NamedThing ciliated cell of the bronchus A ciliated cell of the bronchus. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-09-20T02:21:12Z cell owl:Class HGNC:24249 biolink:NamedThing YARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015636 biolink:NamedThing dirofilariasis Infection with nematodes of the genus dirofilaria, usually in animals, especially dogs, but occasionally in humans. tmpaxzxjjyw_mondo_relaxed.owl Dirofilaria infectious disease|Dirofilaria caused disease or disorder|infection by Dirofilaria|Dirofilaria disease or disorder SCTID:73328005|ICD9:125.6|UMLS:C0012602|Orphanet:166291|GARD:0011908|EFO:0007239|DOID:1082|MESH:D004184|ICD10:B74.8 https://rarediseases.info.nih.gov/diseases/11908/dirofilariasis owl:Class MONDO:0019769 biolink:NamedThing X-linked intellectual disability, Sutherland-Haan type tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206704|Orphanet:93950 owl:Class HP:0003077 biolink:NamedThing Hyperlipidemia An elevated lipid concentration in the blood. tmpaxzxjjyw_mondo_relaxed.owl Elevated lipids in blood MSH:D006949|UMLS:C0020473|SNOMEDCT_US:55822004 Hyperlipidemia is an elevation of the blood levels of lipids including primarily cholesterol, phospholipids and triglycerides and cholesterol esters. The lipids are transported on lipoproteins some of which are commonly used for clinical measurements, including chylomicrons, very-low density lipoproteins (VLDL), intermediate-density lipoproteins (IDL), low-density lipoproteins, and high-density lipoproteins (HDL). HP:0008356|HP:0008159 human_phenotype owl:Class MONDO:0100312 biolink:NamedThing vestibular ataxia Any ataxia in which the causes of the disease is a perturbation of the vestibular system, leading to its dysfunction. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0005036 biolink:NamedThing mucosa of main bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000410 biolink:NamedThing bronchial mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr15q1 biolink:NamedThing 15q1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 44500000 19000000 hg38 owl:Class UBERON:0005965 biolink:NamedThing outflow part of right atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005946 biolink:NamedThing outflow tract of atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008865 biolink:NamedThing Bietti crystalline corneoretinal dystrophy Bietti's crystalline dystrophy (BCD) is a rare progressive autosomal recessive tapetoretinal degeneration disease, occurring in the third decade of life, characterized by small sparkling crystalline deposits in the posterior retina and corneal limbus in addition to sclerosis of the choroidal vessels and manifesting as nightblindness, decreased vision, paracentral scotoma, and, in the end stages of the disease, legal blindness. tmpaxzxjjyw_mondo_relaxed.owl BCD|Bietti's crystalline dystrophy|Bietti crystalline retinopathy|Bietti crystalline corneoretinal dystrophy|Bietti tapetoretinal Degeneration with marginal corneal dystrophy|Bietti crystalline dystrophy Orphanet:41751|OMIM:210370|MESH:C535440|GARD:0010050|DOID:0050664|ICD10:H15.5|UMLS:C1859486|SCTID:312927001 https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy owl:Class UBERON:0011091 biolink:NamedThing skeleton of left pelvic girdle tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:37324 biolink:NamedThing 7,8-dimethylbenzo[g]pteridine-2,4-dione tmpaxzxjjyw_mondo_relaxed.owl 7,8-dimethylbenzo[g]pteridine-2,4-dione owl:Class CHEBI:38925 biolink:NamedThing benzopteridine tmpaxzxjjyw_mondo_relaxed.owl benzopteridines owl:Class MONDO:0002909 biolink:NamedThing hyperglycemia Abnormally high level of glucose in the blood. tmpaxzxjjyw_mondo_relaxed.owl SCTID:80394007|NCIT:C26797|MESH:D006943|ICD10:R73.9|DOID:4195|ICD9:790.6|UMLS:C0020456 owl:Class MONDO:0002908 biolink:NamedThing glucose metabolism disease A metabolic disorder characterized by abnormal blood glucose levels. tmpaxzxjjyw_mondo_relaxed.owl disorder of glucose metabolism|glucose metabolism disorder ICD9:271.8|MESH:D044882|NCIT:C53655|DOID:4194|UMLS:C1257958|SCTID:126877002 owl:Class MONDO:0006905 biolink:NamedThing pigmented spindle cell nevus A benign, small and slightly elevated brown or black skin lesion with usually well-demarcated borders. It is characterized by the presence of a melanocytic proliferation resulting in the formation of uniform cellular nests. Sometimes the clinical and morphologic features may be difficult to distinguish from melanoma. tmpaxzxjjyw_mondo_relaxed.owl spindle cell Nevus of Reed EFO:1001105|MESH:D018331|NCIT:C4751|SCTID:254812004 owl:Class MONDO:0010949 biolink:NamedThing Charcot-Marie-Tooth disease type 2B Autosomal dominant Charcot-Marie-Tooth disease type 2B (CMT2B) is a severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2B onset, in the 2nd or 3rd decade, is characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood. tmpaxzxjjyw_mondo_relaxed.owl Charcot Marie Tooth disease type 2B|CMT 2B|peripheral sensory neuropathy, autosomal dominant (PSN)|hereditary motor and sensory neuropathy 2B|hereditary motor and sensory neuropathy 2 B (HMSN 2 B)|autosomal dominant Charcot-Marie-Tooth disease type 2B|HMSN2B|CMT2B|Charcot-Marie-Tooth neuropathy, type 2B|Charcot-Marie-Tooth disease, autosomal dominant, type 2B|Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A|Charcot-Marie-Tooth disease, axonal, type 2B|HMSN IIB|Charcot-Marie-Tooth neuropathy type 2B|Charcot-Marie-Tooth disease, neuronal, type 2B|hereditary motor and sensory nueropathy IIB|RAB7A Charcot-Marie-Tooth disease type 2 DOID:0110159|ICD10:G60.0|SCTID:717008005|UMLS:C1833219|MESH:C537989|Orphanet:99936|OMIM:600882|GARD:0009192 https://rarediseases.info.nih.gov/diseases/9192/charcot-marie-tooth-disease-type-2b owl:Class CHEBI:26878 biolink:NamedThing tertiary alcohol A tertiary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has three other carbon atoms attached to it. tmpaxzxjjyw_mondo_relaxed.owl tertiary alcohols|tertiary alcohol owl:Class CHEBI:30879 biolink:NamedThing alcohol A compound in which a hydroxy group, -OH, is attached to a saturated carbon atom. tmpaxzxjjyw_mondo_relaxed.owl an alcohol|alcohols|Alcohol owl:Class GO:0061134 biolink:NamedThing peptidase regulator activity Binds to and modulates the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017617 biolink:NamedThing acquired adult-onset immunodeficiency A acquired immunodeficiency that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl adult onset immunodeficiency syndrome|adult-onset immunodeficiency with anti-interferon-gamma autoantibodies|adult-onset immunodeficiency with acquired Anti-interferon-gamma autoantibodies|adult acquired immunodeficiency|adult-onset immunodeficiency due to anti-interferon-gamma autoantibody|acquired immunodeficiency of adults|anti-IFN-gamma autoantibody syndrome Orphanet:306431|GARD:0011992|ICD10:D84.8 owl:Class MONDO:0017769 biolink:NamedThing acquired immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:310050 owl:Class CL:1001596 biolink:NamedThing salivary gland glandular cell Glandular cell of salivary gland. Example: Serous cells, mucous cells, cuboidal epithelial cells of the intercalated ducts, simple cuboidal epithelium of the striated ducts, epithelial cells of excretory ducts. tmpaxzxjjyw_mondo_relaxed.owl salivary gland glandular cells CALOHA:TS-1282 owl:Class UBERON:8410049 biolink:NamedThing serosal nerve fiber of appendix tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006134 biolink:NamedThing nerve fiber tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010494 biolink:NamedThing linear skin defects with multiple congenital anomalies 3 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the NDUFB11 gene. tmpaxzxjjyw_mondo_relaxed.owl linear skin defects with multiple congenital anomalies type 3|microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11|linear skin defects with cardiomyopathy and Other congenital anomalies|NDUFB11 microphthalmia with linear skin defects syndrome|linear skin defects with multiple congenital anomalies 3|LSDMCA3 Orphanet:2556|UMLS:C4225421|OMIM:300952 owl:Class UBERON:0004850 biolink:NamedThing lymph node endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012036 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl SLEB4|systemic lupus erythematosus, susceptibility to, 4 OMIM:608437 owl:Class MONDO:0008714 biolink:NamedThing acrofacial dysostosis Rodriguez type Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth. tmpaxzxjjyw_mondo_relaxed.owl acrofacial dysostosis, syndrome of Rodriguez|acrofacial dysostosis, Rodríguez type|acrofacial dysostosis syndrome of Rodriguez|Rodriguez lethal acrofacial dysostosis syndrome Orphanet:1788|UMLS:C1860119|OMIM:201170|MESH:C538183|GARD:0000496|SCTID:720430002|DOID:0060383|ICD10:Q75.4 https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type owl:Class MONDO:0019835 biolink:NamedThing primary hypophysitis Immune-mediated inflammation of the pituitary gland often associated with other autoimmune diseases (e.g., hashimoto disease; graves disease; and addison disease). tmpaxzxjjyw_mondo_relaxed.owl lymphocytic hypophysitis|autoimmune hypophysitis MESH:D000069281|ICD9:279.49|NCIT:C132055|Orphanet:95506|SCTID:237706000|ICD9:253.8|ICD10:E23.6 owl:Class MONDO:0019072 biolink:NamedThing intrahepatic cholestasis Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery. tmpaxzxjjyw_mondo_relaxed.owl Gravidic intrahepatic cholestasis|recurrent intrahepatic cholestasis of pregnancy|familial intrahepatic cholestasis of pregnancy|RICP|familial recurrent intrahepatic cholestasis of pregnancy|gravidic intrahepatic cholestasis|pregnancy related cholestasis|intrahepatic cholestasis of pregnancy|pregnancy-related cholestasis|ICP|cholestasis, intrahepatic of pregnancy OMIM:614972|OMIM:211600|ICD10:O26.6|DOID:1852|MESH:D002780|OMIM:605479|OMIM:243300|MESH:C535932|SCTID:235888006|OMIM:602347|Orphanet:69665|OMIM:615878|OMIM:601847|GARD:9804|GARD:0009804|EFO:0009048|OMIM:147480|UMLS:C0008372|Orphanet:65682|Orphanet:172|NCIT:C84400|DOID:0070227 owl:Class MONDO:0018216 biolink:NamedThing Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl Del(17)(q21.31)|monosomy 17q21.31 Orphanet:363958|UMLS:C1864871|ICD10:Q93.5|DOID:0070076|DOID:0050880|OMIM:610443|MESH:C566476|SCTID:717338006|UMLS:CN204740 https://github.com/monarch-initiative/mondo/issues/4174 owl:Class MONDO:0016915 biolink:NamedThing partial deletion of the long arm of chromosome 17 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 17q|partial monosomy of the long arm of chromosome 17|partial deletion of chromosome 17q|partial deletion of the long arm of chromosome type 17 Orphanet:262137|ICD10:Q93.5 owl:Class CHEBI:36389 biolink:NamedThing saturated organic heteromonocyclic parent tmpaxzxjjyw_mondo_relaxed.owl saturated heteromonocyclic parent hydrides|saturated organic heteromonocyclic parents|saturated heteromonocyclic parent hydride owl:Class CHEBI:25693 biolink:NamedThing organic heteromonocyclic compound tmpaxzxjjyw_mondo_relaxed.owl organic heteromonocyclic compounds owl:Class UBERON:0002537 biolink:NamedThing hermaphrodite gonad tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004926 biolink:NamedThing dacryocystitis Inflammation of the lacrimal sac. tmpaxzxjjyw_mondo_relaxed.owl dacryoadenitis|Dacryocystitides|lacrimal sac inflammation|Dacryoadenitides|inflammation of lacrimal sac ICD10:H04.30|MESH:D003607|ICD9:375.30|DOID:9938|UMLS:C0010930|NCIT:C34521|SCTID:85777005 owl:Class MONDO:0012156 biolink:NamedThing myasthenic syndrome, congenital, 1B, fast-channel A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q. tmpaxzxjjyw_mondo_relaxed.owl congenital myasthenic syndrome 1B|myasthenic syndrome, congenital, 1B, FAST-channel|congenital myasthenic syndrome type 1B|myasthenic syndrome, congenital, 1B, fast-channel|CMS1B|congenital myasthenic syndrome 1B, fast-channel OMIM:608930|Orphanet:590|DOID:0110662|UMLS:C1837122|UMLS:C4225405 owl:Class NCBITaxon:242060 biolink:NamedThing Cystoisospora tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5809 biolink:NamedThing Sarcocystidae tmpaxzxjjyw_mondo_relaxed.owl Sarcocystids GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007232 biolink:NamedThing autosomal dominant brachyolmia Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood. tmpaxzxjjyw_mondo_relaxed.owl brachyolmia autosomal dominant|brachyolmia, autosomal dominant|brachyolmia type 3|brachyrachia|BCYM3 ICD10:Q76.3|SCTID:717264003|Orphanet:93304|OMIM:113500|GARD:0010429 owl:Class MONDO:0018240 biolink:NamedThing TRPV4-related bone disorder tmpaxzxjjyw_mondo_relaxed.owl Orphanet:364820|UMLS:CN227290 owl:Class GO:0006139 biolink:NamedThing nucleobase-containing compound metabolic process Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpaxzxjjyw_mondo_relaxed.owl nucleobase, nucleoside and nucleotide metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolism|cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism|cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process owl:Class GO:0044238 biolink:NamedThing primary metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. tmpaxzxjjyw_mondo_relaxed.owl primary metabolism owl:Class GO:0097186 biolink:NamedThing amelogenesis The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage. tmpaxzxjjyw_mondo_relaxed.owl enamel development owl:Class MONDO:0015084 biolink:NamedThing FRAXF syndrome FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:100974|UMLS:C4274329|SCTID:716708005|UMLS:CN197382 owl:Class MONDO:0014523 biolink:NamedThing juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome tmpaxzxjjyw_mondo_relaxed.owl ACPHD|ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus|combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome OMIM:616192|UMLS:C4015436|Orphanet:445062 owl:Class MONDO:0100263 biolink:NamedThing peroxisome biogenesis disorder due to PEX6 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX6 gene. tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX6 defect|PEX6 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:11276 biolink:NamedThing SPTBN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100475 biolink:NamedThing severe ichthyosis vulgaris An instance of ichthyosis vulgaris in which the disease presentation is severe in severity. Homozygous FLG mutation carriers often have more severe manifestations. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2360 owl:Class GO:0030547 biolink:NamedThing signaling receptor inhibitor activity Binds to and modulates the activity of a signaling receptor. tmpaxzxjjyw_mondo_relaxed.owl receptor inhibitor activity owl:Class MONDO:0016020 biolink:NamedThing frontal encephalocele tmpaxzxjjyw_mondo_relaxed.owl anterior encephalocele Orphanet:1931|SCTID:253103006|ICD10:Q01.0 owl:Class MONDO:0021480 biolink:NamedThing benign neoplasm of soft palate A benign neoplasm that involves the soft palate. tmpaxzxjjyw_mondo_relaxed.owl benign soft palate neoplasm|benign tumor of the soft palate|benign neoplasm of the soft palate|soft palate benign neoplasm|benign tumor of soft palate|benign soft palate tumor UMLS:C0345557|ICD9:210.4|NCIT:C4404|SCTID:92386006 owl:Class HP:0001433 biolink:NamedThing Hepatosplenomegaly Simultaneous enlargement of the liver and spleen. tmpaxzxjjyw_mondo_relaxed.owl Enlarged liver and spleen SNOMEDCT_US:36760000|UMLS:C0019214 peter 2008-02-20T10:51:00Z human_phenotype owl:Class UBERON:0004257 biolink:NamedThing upper leg blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003503 biolink:NamedThing leg blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043895 biolink:NamedThing ankle injury Harm or hurt to the ankle or ankle joint usually inflicted by an external source. tmpaxzxjjyw_mondo_relaxed.owl injury, syndesmotic|syndesmotic Injuries|Injuries, ankle|Sprains, ankle|ankle injury|injury, ankle|ankle sprain|injury of tarsal region|sprain, ankle|syndesmotic injury|tarsal region injury|Injuries, syndesmotic|injury of ankle|ankle Sprains MESH:D016512|SCTID:125603006|EFO:1001832 owl:Class MONDO:0024545 biolink:NamedThing Miyoshi muscular dystrophy 1 Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene. tmpaxzxjjyw_mondo_relaxed.owl Miyoshi myopathy caused by mutation in DYSF|Miyoshi myopathy|MIYOSHI muscular dystrophy 1|DYSF Miyoshi myopathy|MMD1|muscular dystrophy, distal, late-onset, autosomal recessive GARD:0009676|UMLS:C1850808|DOID:0070199|Orphanet:45448|OMIM:254130 https://rarediseases.info.nih.gov/diseases/9676/miyoshi-myopathy owl:Class UBERON:0009578 biolink:NamedThing myelencephalon sulcus limitans tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005478 biolink:NamedThing sulcus limitans of neural tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012400 biolink:NamedThing cortical dysplasia-focal epilepsy syndrome An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder. tmpaxzxjjyw_mondo_relaxed.owl cortical dysplasia-focal epilepsy syndrome|PTHSL1|CDFES|CDFE syndrome|Pitt-Hopkins-like syndrome 1 Orphanet:163681|DOID:0090130|Orphanet:221150|NCIT:C133743|ICD10:Q04.8|UMLS:C1864887|OMIM:610042 owl:Class MONDO:0024655 biolink:NamedThing rheumatic pericarditis tmpaxzxjjyw_mondo_relaxed.owl rheumatic pericarditis UMLS:C0264747|SCTID:28381002 owl:Class MONDO:0019312 biolink:NamedThing Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity. tmpaxzxjjyw_mondo_relaxed.owl HPS|HPS (Hermansky Pudlak syndrome)|Hermansky Pudlak syndrome Orphanet:231537|Orphanet:231531|DOID:3753|OMIM:614073|ICD9:270.2|OMIM:614171|OMIMPS:203300|OMIM:614076|OMIM:614077|OMIM:614072|GARD:0006643|Orphanet:280663|ICD10:E70.331|SCTID:9311003|OMIM:608233|OMIM:614075|MESH:D022861|Orphanet:79430|NCIT:C37261|OMIM:614074|MedDRA:10071775|ICD10:E70.3|OMIM:203300 owl:Class MONDO:0017708 biolink:NamedThing mevalonate kinase deficiency tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10072221|UMLS:C1959626|Orphanet:309025 owl:Class MONDO:0017953 biolink:NamedThing hereditary periodic fever syndrome An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary periodic fever syndrome UMLS:CN204099|MESH:D056660|Orphanet:324924|ICD10:E85.0 owl:Class UBERON:0001229 biolink:NamedThing renal corpuscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018118 biolink:NamedThing right renal cortex interstitium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005270 biolink:NamedThing renal cortex interstitium tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002454 biolink:NamedThing Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell is a conventional dendritic cell that is CD11b-positive, CD4-negative, CD8_alpha-negative and is CD205-positive. tmpaxzxjjyw_mondo_relaxed.owl DC.8-4-11b+|spleen double-negative dendritic cell tmeehan 2010-11-22T01:10:28Z cell owl:Class CL:0002465 biolink:NamedThing CD11b-positive dendritic cell A conventional dendritic cell that expresses CD11b (ITGAM). tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-11-23T01:50:05Z cell owl:Class CL:0002559 biolink:NamedThing hair follicle cell An animal cell that is part of a hair follicle. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-01T04:11:01Z cell owl:Class NCBITaxon:945 biolink:NamedThing Ehrlichia chaffeensis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:11760958|PMID:1757557 ncbi_taxonomy owl:Class GO:0007006 biolink:NamedThing mitochondrial membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrial membrane, either of the lipid bilayer surrounding a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial membrane organization and biogenesis|mitochondrial membrane organisation owl:Class GO:0007005 biolink:NamedThing mitochondrion organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. tmpaxzxjjyw_mondo_relaxed.owl mitochondria organization|mitochondrion organisation|mitochondrion organization and biogenesis owl:Class GO:0042593 biolink:NamedThing glucose homeostasis Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0033500 biolink:NamedThing carbohydrate homeostasis A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008474 biolink:NamedThing spondyloepiphyseal dysplasia tarda, autosomal dominant Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant spondyloepiphyseal dysplasia tarda|spondyloepiphyseal dysplasia tarda, autosomal dominant UMLS:C1866717|OMIM:184100|GARD:0010624|Orphanet:93284|MESH:C566658 https://rarediseases.info.nih.gov/diseases/10624/autosomal-dominant-spondyloepiphyseal-dysplasia-tarda owl:Class CL:1000465 biolink:NamedThing chromaffin cell of ovary A chromaffin cell that is part of the ovary. tmpaxzxjjyw_mondo_relaxed.owl FMA:74319 cell owl:Class FOODON:03420144 biolink:NamedThing plant above surface, excluding fruit and seed tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03420148 biolink:NamedThing root, stem, leaf or flower The parts of a plant that are not fruit or seed. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002025 biolink:NamedThing stratum basale of epidermis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007267 biolink:NamedThing trachea pre-cartilage rings tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001952 biolink:NamedThing Glucose intolerance Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). tmpaxzxjjyw_mondo_relaxed.owl Glucose intolerance|Abnormal glucose tolerance UMLS:C0235401 HP:0000833 human_phenotype owl:Class HP:0011014 biolink:NamedThing Abnormal glucose homeostasis Abnormality of glucose homeostasis. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023598 An abnormality of any process involved in the maintenance of an internal steady state of glucose within an organism or cell. peter 2011-02-21T10:37:21Z human_phenotype owl:Class MONDO:0017846 biolink:NamedThing autosomal dominant spastic ataxia Autosomal dominant form of spastic ataxia. tmpaxzxjjyw_mondo_relaxed.owl AD-SPAX|spastic ataxia, autosomal dominant UMLS:CN229111|ICD10:G11.4|Orphanet:316235 owl:Class MONDO:0017845 biolink:NamedThing spastic ataxia tmpaxzxjjyw_mondo_relaxed.owl SPAX OMIMPS:108600|DOID:0050952|UMLS:C1849156|Orphanet:316226|ICD10:G11.4|MESH:C564815 owl:Class HGNC:245 biolink:NamedThing ADD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1389 biolink:NamedThing CACNA1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8002 biolink:NamedThing NRL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013726 biolink:NamedThing encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 tmpaxzxjjyw_mondo_relaxed.owl encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission|lethal encephalopathy due to mitochondrial and peroxisomal fission defect|EMPF1|encephalopathy due to defective mitochondrial and peroxisomal fission 1|encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1|DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect|EMPF OMIM:614388|Orphanet:330050|DOID:0070347|ICD10:G31.8|UMLS:C3280660 owl:Class UBERON:0004297 biolink:NamedThing respiratory system blood vessel smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017928 biolink:NamedThing 9p13 microdeletion syndrome 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). tmpaxzxjjyw_mondo_relaxed.owl monosomy 9p13|Del(9)(p13) UMLS:CN204067|SCTID:764725008|Orphanet:324313|ICD10:Q93.5 owl:Class HGNC:2203 biolink:NamedThing COL4A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905880 biolink:NamedThing negative regulation of oogenesis Any process that stops, prevents or reduces the frequency, rate or extent of oogenesis. tmpaxzxjjyw_mondo_relaxed.owl down regulation of oogenesis|inhibition of oogenesis|inhibition of ovum development|down regulation of ovum development|downregulation of oogenesis|downregulation of ovum development|down-regulation of oogenesis|negative regulation of ovum development|down-regulation of ovum development owl:Class GO:0048636 biolink:NamedThing positive regulation of muscle organ development Any process that activates, maintains or increases the rate of muscle development. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of muscle development|stimulation of muscle development|activation of muscle development|upregulation of muscle development|up regulation of muscle development owl:Class GO:0048634 biolink:NamedThing regulation of muscle organ development Any process that modulates the frequency, rate or extent of muscle development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4816 biolink:NamedThing HARS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004898 biolink:NamedThing total circumpapillary dystrophy of choroid tmpaxzxjjyw_mondo_relaxed.owl circumpapillary dystrophy of choroid, total DOID:9842|UMLS:C0154896|SCTID:59753003|ICD9:363.52 owl:Class MONDO:0004883 biolink:NamedThing hereditary choroidal atrophy tmpaxzxjjyw_mondo_relaxed.owl DOID:9794|ICD10:H31.2|ICD10:H31.20|UMLS:C0154893|ICD9:363.5|SCTID:74469006|ICD9:363.50 owl:Class MONDO:0023595 biolink:NamedThing congenital myotonic dystrophy Myotonic dystrophy that is present at birth. tmpaxzxjjyw_mondo_relaxed.owl Congenital Myotonic dystrophies|dystrophy, Congenital Myotonic|Myotonic dystrophies, Congenital|Congenital Myotonic dystrophy|MYOTONIC dystrophy CONGEN|Congenital myotonic dystrophy|dystrophies, Congenital Myotonic|Myotonic dystrophy, Congenital|congenital myotonic dystrophy UMLS:C0410226|NCIT:C123308|GARD:0009134 owl:Class MONDO:0000994 biolink:NamedThing malignant prostate phyllodes tumor An unusual malignant tumor that arises from the prostate gland. It is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia. tmpaxzxjjyw_mondo_relaxed.owl malignant prostate phyllodes neoplasm|malignant phyllodes neoplasm of prostate|prostate malignant phyllodes tumor|malignant phyllodes tumor of prostate|malignant phyllodes tumor of the prostate|malignant phyllodes neoplasm of the prostate|malignant prostate phyllodes tumor NCIT:C5531|DOID:10289|UMLS:C1334615 owl:Class MONDO:0021102 biolink:NamedThing prostate phyllodes tumor An unusual, biphasic benign or malignant neoplasm that arises from the prostate gland. It is characterized by the presence of an epithelial glandular component and a proliferating stroma. tmpaxzxjjyw_mondo_relaxed.owl cystosarcoma phyllodes of prostate|phyllodes tumor of the prostate|phyllodes neoplasm of prostate|cystosarcoma phyllodes of the prostate|prostate phyllodes tumor|malignant phyllodes tumor of prostate (subtype)|phyllodes tumor of prostate|prostate phyllodes neoplasm|prostate cystosarcoma phyllodes|phyllodes neoplasm of the prostate|prostate gland phyllodes tumor GARD:0009404|NCIT:C7574|UMLS:C1335409|Orphanet:498228 owl:Class MONDO:0018492 biolink:NamedThing hereditary clear cell renal cell carcinoma A manifestation of von Hippel-Lindau disease or other familial renal cell cancer syndromes that present as a malignant epithelial neoplasm of the kidney. It is characterized by the presence of lipid-containing clear cells within a vascular network. The tumor usually is bilateral and polycentric, and metastasizes to unusual sites. Late metastasis is common. tmpaxzxjjyw_mondo_relaxed.owl hereditary conventional renal cell carcinoma|hereditary conventional (clear cell) renal cell carcinoma|Hereditary clear cell renal cell cancer|hereditary clear cell renal cell adenocarcinoma|hereditary clear cell renal carcinoma|hereditary clear cell renal cell carcinoma ICD10:C64|Orphanet:422526|DOID:7192|UMLS:CN237493|SCTID:764961009|OMIM:144700|NCIT:C36260 MONDO:0004137 owl:Class MONDO:0003008 biolink:NamedThing hereditary renal cell carcinoma An instance of renal cell carcinoma (disease) that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary renal carcinoma|hereditary renal cell cancer|hereditary renal cell carcinoma (disease)|hereditary renal cell carcinoma|familial renal carcinoma MESH:C536851|NCIT:C39789|GARD:0009571|DOID:4455|SCTID:717736007 https://rarediseases.info.nih.gov/diseases/9571/hereditary-renal-cell-carcinoma owl:Class MONDO:0000488 biolink:NamedThing periampullary adenoma A adenoma that involves the periampullary region of duodenum. tmpaxzxjjyw_mondo_relaxed.owl periampullary region of duodenum adenoma DOID:0050849|UMLS:CN068444 owl:Class MONDO:0008861 biolink:NamedThing 3-methylcrotonyl-CoA carboxylase 1 deficiency Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene. tmpaxzxjjyw_mondo_relaxed.owl 3-methylcrotonylglycinuria I|MCCD type 1|methylcrotonylglycinuria type 1|3 Alpha methylcrotonylglycinuria 1|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1|MCC1D|MCCC1 3-methylcrotonyl-CoA carboxylase deficiency|MCC 1 deficiency|3-Methylcrotonyl-Coenzyme A carboxylase deficiency|3-methylcrotonylglycinuria 1|3 methylcrotonylglycinuria|3-methylcrotonyl-CoA carboxylase 1 deficiency|3-Methylcrotonyl-Coa carboxylase 1 deficiency|methylcrotonoyl-CoA carboxylase 1 deficiency|3 Methylcrotonyl-CoA carboxylase deficiency|Bmcc deficiency|MCC1 deficiency|3-METHYLCROTONYL-CoA carboxylase 1 deficiency|3 alpha methylcrotonylglycinuria 1|Mcc1 deficiency|methylcrotonylglycinuria type I|3 Methylcrotonyl-CoA carboxylase 1 deficiency|deficiency of methylcrotonoyl-Coa carboxylase|Methylcrotonyl-Coa carboxylase deficiency|3-MCC deficiency|3-Methylcrotonyl-Coa carboxylase deficiency|3-methylcrotonylglycinuria|Mccd type 1|MCC deficiency GARD:0005665|Orphanet:6|DOID:0080579|MESH:C535308|OMIM:210200|UMLS:CN028786|UMLS:C0268600 MONDO:0022326 https://rarediseases.info.nih.gov/diseases/5665/3-methylcrotonyl-coa-carboxylase-1-deficiency owl:Class MONDO:0024326 biolink:NamedThing pleural adenomatoid tumor A rare benign neoplasm that arises from the mesothelial cells of the pleura. It is characterized by a proliferation of epithelioid cells forming glandular and tubular patterns in a fibrous stroma. tmpaxzxjjyw_mondo_relaxed.owl pleural benign mesothelioma|pleural mesothelioma, benign|pleura adenomatoid tumor|benign mesothelioma of pleura|pleural adenomatoid tumor|benign mesothelioma of the pleura NCIT:C4499 owl:Class MONDO:0010842 biolink:NamedThing multiple cutaneous and mucosal venous malformations Mucocutaneous venous malformations (VMCMs) are hereditary vascular malformations characterized by the presence of small, multifocal, bluish-purple venous lesions involving the skin and mucosa. tmpaxzxjjyw_mondo_relaxed.owl cutaneous and mucosal venous malformation|VMCM|mucocutaneous venous malformations|VENOUS malformations, multiple cutaneous and mucosal|Vmcm1 MESH:C563977|Orphanet:2451|ICD10:Q27.8|DOID:0050792|OMIM:600195|SCTID:699301008 owl:Class MONDO:0013321 biolink:NamedThing forsythe-wakeling syndrome tmpaxzxjjyw_mondo_relaxed.owl FWS|microcephaly and Growth retardation with childhood-onset nephrotic syndrome and thrombocytopenia|FORSYTHE-WAKELING syndrome UMLS:C3150859|OMIM:613606 owl:Class GO:0042752 biolink:NamedThing regulation of circadian rhythm Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001556 biolink:NamedThing lower urinary tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009952 biolink:NamedThing radioulnar synostosis-developmental delay-hypotonia syndrome Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears). tmpaxzxjjyw_mondo_relaxed.owl Der Kaloustian-McIntosh-Silver syndrome|radioulnar synostosis, unilateral, with developmental retardation and hypotonia|unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance|der Kaloustian mcintosh silver syndrome|radioulnar synostosis, unilateral, with developintellectual disability and hypotonia|radioulnar synostosis with developmental delay and hypotonia syndrome|unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance MESH:C538217|Orphanet:3270|SCTID:721883006|OMIM:266255|MESH:C564856|ICD10:Q87.8|GARD:0001810 https://rarediseases.info.nih.gov/diseases/1810/der-kaloustian-mcintosh-silver-syndrome owl:Class HGNC:3287 biolink:NamedThing EIF4E tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018474 biolink:NamedThing 13q12.3 microdeletion syndrome 13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain. tmpaxzxjjyw_mondo_relaxed.owl Del(13)(q12.3)|monosomy 13q12.3 UMLS:CN237459|Orphanet:412035|ICD10:Q93.5 owl:Class PATO:0001689 biolink:NamedThing decreased elevation An elevation which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl low elevation owl:Class PATO:0001476 biolink:NamedThing decreased position A positional which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl low position owl:Class MONDO:0015344 biolink:NamedThing idiopathic acute transverse myelitis Idiopathic acute transverse myelitis (ATM) is an immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement. tmpaxzxjjyw_mondo_relaxed.owl ATM/TM ICD10:G37.3|Orphanet:139423 owl:Class MONDO:0015342 biolink:NamedThing acute transverse myelitis Acute transverse myelitis (ATM) is an inflammatory demyelinating disorder of the spinal cord that can be either idiopathic (IATM) or secondary to a known cause (SATM). tmpaxzxjjyw_mondo_relaxed.owl ICD10:G37.3|ICD9:341.20|SCTID:47000000|UMLS:C0270627|MESH:D009188|ICD9:323.9|NCIT:C128378|Orphanet:139417 owl:Class MONDO:0009462 biolink:NamedThing inosine phosphorylase deficiency, immune defect due to tmpaxzxjjyw_mondo_relaxed.owl inosine phosphorylase deficiency, immune defect due to UMLS:C1855737|OMIM:243080|MESH:C565465 owl:Class MONDO:0008020 biolink:NamedThing multiple exostoses with spastic tetraparesis tmpaxzxjjyw_mondo_relaxed.owl multiple exostoses with spastic tetraparesis|Hamann Zanki schimrigk syndrome|spasticity multiple exostoses OMIM:158345|GARD:0000291|UMLS:C1834724|MESH:C563566 owl:Class MONDO:0007881 biolink:NamedThing tooth agenesis, selective, 4 Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene. tmpaxzxjjyw_mondo_relaxed.owl lateral incisors, absence of|lateral incisors, pegged or missing|tooth agenesis, selective, type 4|WNT10A tooth agenesis|STHAG4|tooth agenesis, selective, 4|tooth agenesis caused by mutation in WNT10A|succedaneous teeth, agenesis of|tooth agenesis, selective, 4, with or without ectodermal dysplasia OMIM:150400|Orphanet:99798|MESH:C563634 https://github.com/monarch-initiative/mondo/issues/3293 owl:Class HGNC:923 biolink:NamedThing B3GAT3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011268 biolink:NamedThing renal tubular acidosis, distal, 3, with or without sensorineural hearing loss tmpaxzxjjyw_mondo_relaxed.owl renal tubular acidosis, autosomal recessive, with preserved hearing|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss, included|renal tubular acidosis, autosomal recessive with preserved hearing|classical distal RTA|classical distal renal tubular acidosis|RTADR|type 1 RTA|renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss|RTA, distal, autosomal recessive|renal tubular acidosis, distal, 3, with or without sensorineural hearing loss|type 1 renal tubular acidosis|renal tubular acidosis, distal, autosomal recessive UMLS:C1864498|OMIM:602722|GARD:0004669|Orphanet:18|Orphanet:402041 owl:Class MONDO:0001781 biolink:NamedThing uterine corpus adenomatoid tumor A benign mesothelial tumor of the serosal surface of the uterine body and myometrium. It is characterized by the presence of gland-like structures. tmpaxzxjjyw_mondo_relaxed.owl uterine corpus adenomatoid tumor|uterine corpus localized epithelial mesothelioma|body of uterus adenomatoid tumor NCIT:C27250|DOID:1371|UMLS:C1336902 owl:Class UBERON:2001431 biolink:NamedThing primitive olfactory epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:638 biolink:NamedThing AQP5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12775 biolink:NamedThing WNT10B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21686 biolink:NamedThing RNASET2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019876 biolink:NamedThing 8p inverted duplication/deletion syndrome 8p inverted duplication/deletion [invdupdel(8p)] syndrome is a rare chromosomal anomaly characterized clinically by mild to severe intellectual deficit, severe developmental delay (psychomotor and speech development), hypotonia with tendency to develop progressive hypertonia and severe orthopedic problems over time, minor facial anomalies and agenesis of the corpus callosum. tmpaxzxjjyw_mondo_relaxed.owl inverted 8p duplication/deletion syndrome|Invdupdel(8p) ICD10:Q99.8|UMLS:CN206812|Orphanet:96092|SCTID:718188007 owl:Class ENVO:01001856 biolink:NamedThing liquid accumulation process A material accumulation process during which the volume of liquid entity increases. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:1000004 biolink:NamedThing collection of hair on external ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010164 biolink:NamedThing collection of hairs tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:39080 biolink:NamedThing KCNJ18 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018232 biolink:NamedThing axillary sweat gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008920 biolink:NamedThing carnitine deficiency, myopathic tmpaxzxjjyw_mondo_relaxed.owl myopathic carnitine deficiency|carnitine deficiency, myopathic UMLS:C1859318|MESH:C536100|GARD:0006616|OMIM:212160 https://rarediseases.info.nih.gov/diseases/6616/myopathic-carnitine-deficiency owl:Class HGNC:11244 biolink:NamedThing SPINK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003631 biolink:NamedThing pedal digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006048 biolink:NamedThing digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054730 biolink:NamedThing spermatogenic failure 26 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 26|SPGF26 OMIM:617961|UMLS:CN244573 owl:Class GO:0050995 biolink:NamedThing negative regulation of lipid catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of lipid catabolic process|negative regulation of lipid degradation|downregulation of lipid catabolic process|down regulation of lipid catabolic process|inhibition of lipid catabolic process|negative regulation of lipid breakdown|negative regulation of lipid catabolism owl:Class MONDO:0009971 biolink:NamedThing newborn respiratory distress syndrome Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts. tmpaxzxjjyw_mondo_relaxed.owl RDS of prematurity|respiratory distress syndrome in the newborn|neonatal respiratory distress syndrome|respiratory distress syndrome Of newborns|RDS Of newborns|hyaline Membrane disease|syndrome Of newborns (RDS), respiratory distress|infant ARDS|NRDS|RDS|infantile respiratory distress syndrome|pulmonary hyaline membrane disease|HMD - hyaline membrane disease|neonatal respiratory distress|infant respiratory distress syndrome|RDS - infants|newborns (RDS), respiratory distress syndrome Of|hyaline Membrane disease, formerly|respiratory distress syndrome Of newborns (RDS)|IRDS|RDS, respiratory distress syndrome Of newborns|respiratory distress syndrome, infant|pulmonary hypoperfusion syndrome of newborn|respiratory distress syndrome|respiratory distress syndrome in premature infants|infant acute respiratory distress syndrome|respiratory distress syndrome of newborn|hyaline membrane disease GARD:0000112|Orphanet:70587|ICD10:P22.0|DOID:12716|SCTID:46775006|UMLS:C1968593|EFO:1000644|NCIT:C27560|OMIM:267450|UMLS:C0035220|ICD9:769|UMLS:C0020192 owl:Class MONDO:0100131 biolink:NamedThing pediatric acute respiratory distress syndrome Acute respiratory distress syndromet that occurs in pediatric patients and includes findings of new infiltrates (unilateral or bilateral) consistent with acute parenchymal disease, edema not fully explained by fluid overload or cardiac failure, and may present as new acute lung disease in setting of chronic lung disease and/or heart disease, and perinatal lung disease is excluded. tmpaxzxjjyw_mondo_relaxed.owl PARDS http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013992 biolink:NamedThing obesity due to leptin receptor gene deficiency tmpaxzxjjyw_mondo_relaxed.owl obesity due to leptin receptor gene deficiency|obesity, morbid, nonsyndromic 2|leptin receptor deficiency Orphanet:179494|NCIT:C120386|UMLS:C3554225|OMIM:614963|ICD10:E66.8 owl:Class MONDO:0016553 biolink:NamedThing isolated congenital hypogonadotropic hypogonadism A congenital hypogonadotropic hypogonadism that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic congenital hypogonadotropic hypogonadism Orphanet:238666|ICD10:E23.0|UMLS:CN924907 owl:Class MONDO:0011173 biolink:NamedThing thrombocythemia 2 Familial thrombocytosis in which the cause of the disease is a mutation in the MPL gene. tmpaxzxjjyw_mondo_relaxed.owl THCYT2|thrombocythemia 2|thrombocythemia type 2|MPL familial thrombocytosis|familial thrombocytosis caused by mutation in MPL Orphanet:71493|Orphanet:3318|UMLS:C3275998|OMIM:601977 https://github.com/monarch-initiative/mondo/issues/230 owl:Class MONDO:0019111 biolink:NamedThing familial thrombocytosis Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. tmpaxzxjjyw_mondo_relaxed.owl thrombocythemia|hereditary thrombocythemia|familial thrombocythemia|hereditary thrombocytosis disease|hereditary thrombocytosis|THCYT SCTID:720950009|OMIMPS:187950|Orphanet:71493|OMIM:614521|OMIM:187950|OMIM:300331|OMIM:601977|UMLS:CN205627|ICD10:D75.2 owl:Class CL:0000457 biolink:NamedThing biogenic amine secreting cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0017257 biolink:NamedThing idiopathic posterior uveitis Idiopathic posterior uveitis is a rare, potentially sight-threatening, ocular disease, not attributed to any specific ocular or systemic cause, characterized by focal, multifocal or diffuse non-infectious inflammation in the posterior uvea (i.e. choroiditis, chorioretinitis, retinitis and neuroretinitis). Visual morbidity due to complications (including cystoid macular edema and choroidal neovascularization) has been reported. tmpaxzxjjyw_mondo_relaxed.owl ICD10:H20.0|Orphanet:280917 owl:Class MONDO:0013592 biolink:NamedThing nonsyndromic congenital nail disorder 9 tmpaxzxjjyw_mondo_relaxed.owl anonychia-onycholysis, isolated|nonsyndromic congenital nail disorder type 9|nail disorder, nonsyndromic congenital, 9|nail dysplasia|NDNC9|onychodystrophy DOID:0080087|Orphanet:90390|Orphanet:79143|UMLS:C3279947|OMIM:614149|ICD9:703.8|SCTID:87065009 owl:Class MONDO:0019577 biolink:NamedThing anonychia-onychodystrophy syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q84.3|MESH:C536378|OMIM:107000|Orphanet:90390|OMIM:614149|UMLS:C1862840 owl:Class UBERON:0001062 biolink:NamedThing anatomical entity Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:76838 biolink:NamedThing EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any such enzyme incorporating one atom of oxygen and using reduced flavin or flavoprotein as donor (EC 1.14.14.*). tmpaxzxjjyw_mondo_relaxed.owl EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitors|oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor (EC 1.14.14.*) inhibitor|EC 1.14.14.* inhibitor|EC 1.14.14.* inhibitors|EC 1.14.14.* (oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor|oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor (EC 1.14.14.*) inhibitors|EC 1.14.14.* (oxidoreductase acting on paired donors, with incorporation of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitors owl:Class CHEBI:76741 biolink:NamedThing EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on hydrogen as donors (EC 1.14.*.*). tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*) inhibitors|inhibitor of oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|EC 1.14.* inhibitor|inhibitors of oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|EC 1.14.* inhibitors|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*) inhibitor|EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitors|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen inhibitors|inhibitors of oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*)|oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen inhibitor|inhibitor of oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.*) owl:Class MONDO:0001237 biolink:NamedThing appendix lymphoma A lymphoma arising from the appendix. The majority of lymphomas affecting the appendix represent disease extension from the intestinal wall; primary lymphomas of the appendix are rare. tmpaxzxjjyw_mondo_relaxed.owl appendix lymphoma|lymphoma of the appendix|vermiform appendix lymphoma|primary appendix lymphoma|lymphoma of vermiform appendix|appendiceal lymphoma|lymphoma of appendix UMLS:C1332328|DOID:11241|NCIT:C5513 owl:Class MONDO:0007785 biolink:NamedThing hyperthyroxinemia, dystransthyretinemic tmpaxzxjjyw_mondo_relaxed.owl hyperthyroxinemia, dystransthyretinemic|Euthryroidal hyperthyroxinemia 2|hyperthyroxinemia, Dysprealbuminemic|dystransthyretinemic hyperthyroxinemia|DTTRH|dystransthyretinemic Euthyroidal hyperthyroxinemia DOID:0080219|MESH:C567719|UMLS:C2750824|OMIM:145680 owl:Class MONDO:0005333 biolink:NamedThing hyperthyroxinemia Abnormally elevated thyroxine level in the blood. tmpaxzxjjyw_mondo_relaxed.owl DOID:2855|HGNC:399|EFO:0004127|UMLS:C0020551|OMIM:615999|OMIM:145680|MESH:D006981 owl:Class HGNC:3012 biolink:NamedThing DPYD tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4288 biolink:NamedThing GJB6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051301 biolink:NamedThing cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005088 biolink:NamedThing sebaceous gland placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015429 biolink:NamedThing choroideremia-hypopituitarism syndrome tmpaxzxjjyw_mondo_relaxed.owl CHM-hypopituitarism syndrome UMLS:CN226680|Orphanet:1434 owl:Class MONDO:0018656 biolink:NamedThing tremor-ataxia-central hypomyelination syndrome tmpaxzxjjyw_mondo_relaxed.owl tach syndrome OMIM:607694|UMLS:CN237714|Orphanet:447896|ICD10:E75.2 owl:Class GO:1900047 biolink:NamedThing negative regulation of hemostasis Any process that stops, prevents or reduces the frequency, rate or extent of hemostasis. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of hemostasis|downregulation of hemostasis|down regulation of hemostasis|inhibition of hemostasis owl:Class MONDO:0017826 biolink:NamedThing null pituitary adenoma tmpaxzxjjyw_mondo_relaxed.owl ICD10:D35.2|Orphanet:314790|UMLS:CN203796 owl:Class HGNC:9177 biolink:NamedThing POLE tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010585 biolink:NamedThing pedal digit phalanx pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010886 biolink:NamedThing hindlimb pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013295 biolink:NamedThing atopic dermatitis 9 An atopic dermatitis associated with variation in the region 3p24. tmpaxzxjjyw_mondo_relaxed.owl ATOD9|dermatitis, ATOPIC, 9|atopic dermatitis type 9 UMLS:C3150764|DOID:0110105|OMIM:613519 owl:Class MONDO:0012307 biolink:NamedThing familial scaphocephaly syndrome, McGillivray type Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl scaphocephaly, maxillary retrusion, and mental retardation|scaphocephaly, maxillary retrusion, and intellectual disability|scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome UMLS:C1865070|Orphanet:168624|MESH:C566511|OMIM:609579|ICD10:Q87.0 owl:Class UBERON:0015083 biolink:NamedThing proximal tarsal bone pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018304 biolink:NamedThing Schnitzler syndrome A rare, underdiagnosed disorder in adults characterized by recurrent febrile rash, bone and/or joint pain, enlarged lymph nodes, fatigue, a monoclonal IgM component, leukocytosis and systemic inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl chronic urticaria with macroglobulinemia|chronic urticaria with gammapathy|chronic urticaria with gammopathy UMLS:C0524988|ICD9:708.8|GARD:0012390|SCTID:402415001|DOID:4371|MedDRA:10062908|ICD10:L50.8|MESH:D019873|Orphanet:37748|EFO:1001165 https://rarediseases.info.nih.gov/diseases/12390/schnitzler-syndrome owl:Class MONDO:0004506 biolink:NamedThing microscopic breast papilloma A benign papillary neoplasm that arises in a terminal ductal lobular unit. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Peripheral breast papillomas are often multiple and are usually found microscopically. Patients are often asymptomatic. tmpaxzxjjyw_mondo_relaxed.owl peripheral breast papilloma|microscopic breast papilloma DOID:8225|UMLS:C1335390|NCIT:C36088 owl:Class MONDO:0021097 biolink:NamedThing intraductal breast papilloma A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units. tmpaxzxjjyw_mondo_relaxed.owl intraductal breast papilloma|mammary duct papilloma|ductal breast papilloma|breast papilloma|papilloma of breast|intraductal papilloma of breast|duct papilloma of breast|intraductal papilloma of the breast|breast duct papilloma|duct papilloma of the breast|papilloma of the breast SCTID:254848002|DOID:1626|NCIT:C3863|EFO:1000306|SCTID:99571000119102 owl:Class MONDO:0019249 biolink:NamedThing mucopolysaccharidosis A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. tmpaxzxjjyw_mondo_relaxed.owl mucopolysaccharidosis|MPS|mucopolysaccharidoses UMLS:C0026703|ICD10:E76.0|OMIM:252700|MedDRA:10028093|ICD9:277.5|ICD10:E76.2|ICD10:E76.3|DOID:12798|Orphanet:79213|GARD:0007065|ICD10:E76.1|MESH:D009083|SCTID:11380006|OMIMPS:607014|NCIT:C61259 https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis owl:Class UBERON:0004182 biolink:NamedThing mammary gland cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005154 biolink:NamedThing epithelial cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019805 biolink:NamedThing twin to twin transfusion syndrome Twin twin transfusion syndrome (TTTS) is a rare condition seen in twin monochorionic pregnancies, typically developing during the 15-26 week gestation period and usually due to unbalanced intertwin placental anastomoses, where an unequal exchange of blood between twins causes oligohydramnios in one sac and polyhydramnios in the other which can lead to a high perinatal mortality rate and a high rate of disability in survivors if left untreated tmpaxzxjjyw_mondo_relaxed.owl Fetofetal transfusion syndrome|stuck Twin syndrome|fetal transfusion syndrome|Feto-fetal transfusion syndrome|Twin-to-twin blood transfer|placental transfusion syndrome|fetal blood loss from fetal hemorrhage into co-twin|Twin to twin transfusion|twin-to-twin transfusion syndrome|fetal hemorrhage into co-twin|TTTS|Twin-Twin transfusion syndrome MedDRA:10058328|GARD:0000325|ICD10:O43.02|DOID:13576|ICD10:O43.0|EFO:1001221|MESH:D005330|UMLS:CN206761|SCTID:13404009|NCIT:C113824|ICD10:O43.029|Orphanet:95431 owl:Class MONDO:0013101 biolink:NamedThing basal cell carcinoma, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl BCC2|basal cell carcinoma, susceptibility to, 2 UMLS:C2751606|OMIM:613058 owl:Class MONDO:0044998 biolink:NamedThing carpal region disorder A disease or disorder that involves the carpal region. tmpaxzxjjyw_mondo_relaxed.owl disease of carpal region|disease or disorder of carpal region|wrist region disease|carpal region disease or disorder|disorder of carpal region|disorder of wrist region UMLS:C1290872|SCTID:128130001 owl:Class MONDO:0000118 biolink:NamedThing reticulate pigment disorder tmpaxzxjjyw_mondo_relaxed.owl reticulate pigment disorders OMIMPS:179850 owl:Class GO:1905277 biolink:NamedThing negative regulation of epithelial tube formation Any process that stops, prevents or reduces the frequency, rate or extent of epithelial tube formation. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of epithelial tube formation|downregulation of epithelial tube formation|inhibition of epithelial tube formation|down regulation of epithelial tube formation owl:Class MONDO:0030860 biolink:NamedThing neuronopathy, distal hereditary motor, type 5C Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene. tmpaxzxjjyw_mondo_relaxed.owl HMN5C|DHMN5C|neuropathy, distal hereditary motor, type VC|spinal muscular atrophy, distal, type 5C OMIM:619112 owl:Class HGNC:1052 biolink:NamedThing BIN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:29067 biolink:NamedThing carboxylic acid anion The conjugate base formed when the carboxy group of a carboxylic acid is deprotonated. tmpaxzxjjyw_mondo_relaxed.owl carboxylic anions|carboxylic acid anions|a carboxylate owl:Class MONDO:0004830 biolink:NamedThing fasciitis Inflammation process in fascia. tmpaxzxjjyw_mondo_relaxed.owl fasciitis (disease)|fasciitis|Fascitis|fascia inflammation|inflammation of fascia fasciitis (disease) ICD9:729.4|MESH:D005208|NCIT:C50559|DOID:9598|HP:0100537|ICD10:M72.9|UMLS:C0015645|SCTID:36948007 owl:Class MONDO:0010733 biolink:NamedThing hereditary spastic paraplegia 2 Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia type 2|X-linked spastic paraplegia 2|hereditary spastic paraplegia caused by mutation in PLP1|spastic paraparesis type 2|hereditary spastic paraplegia type 2|PLP1 hereditary spastic paraplegia|spastic gait type 2|SPG2|spastic paraplegia 2|Sppx2|spastic paraplegia 2, X-linked|X-linked spastic paraplegia type 2 Orphanet:99015|OMIM:312920|UMLS:C1839264|SCTID:723622007|DOID:0110773|ICD10:G11.4|GARD:0004923 owl:Class MONDO:0018174 biolink:NamedThing hereditary glaucoma Hereditary glaucoma is a clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. Hereditary glaucoma can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities. tmpaxzxjjyw_mondo_relaxed.owl glaucoma, hereditary|hereditary glaucoma (disease) MESH:C580055|UMLS:CN227278|Orphanet:359|GARD:0002486 https://rarediseases.info.nih.gov/diseases/2486/glaucoma-hereditary owl:Class MONDO:0060702 biolink:NamedThing spondyloepimetaphyseal dysplasia, di rocco type tmpaxzxjjyw_mondo_relaxed.owl spondyloepimetaphyseal dysplasia, Di Rocco type|SEMDDR OMIM:617974|UMLS:CN244923 owl:Class NCBITaxon:6300 biolink:NamedThing Tylenchina tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6236 biolink:NamedThing Rhabditida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:33251 ncbi_taxonomy owl:Class HGNC:16650 biolink:NamedThing MRPL44 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20p12.3 biolink:NamedThing 20p12.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 9200000 5100000 hg38 owl:Class HGNC:14966 biolink:NamedThing PXDN tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045863 biolink:NamedThing negative regulation of pteridine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving pteridine. tmpaxzxjjyw_mondo_relaxed.owl downregulation of pteridine metabolic process|inhibition of pteridine metabolic process|down regulation of pteridine metabolic process|down-regulation of pteridine metabolic process|negative regulation of pteridine metabolism owl:Class GO:0051172 biolink:NamedThing negative regulation of nitrogen compound metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds. tmpaxzxjjyw_mondo_relaxed.owl down regulation of nitrogen metabolic process|negative regulation of nitrogen metabolic process|negative regulation of nitrogen metabolism|inhibition of nitrogen metabolic process|down-regulation of nitrogen metabolic process|downregulation of nitrogen metabolic process owl:Class MONDO:0100000 biolink:NamedThing MED12-related intellectual disability syndrome An X-linked syndromic intellectual disability that that includes subtypes of the heterogeneous, eponymously named Lujan-Fryns syndrome, X-linked Ohdo syndrome, and Optiz-Kaveggia/ FG syndrome, which is caused by mutations in the gene MED12. The common and most penetrant phenotype shared amongst these disease entities is intellectual disability, with dysgenesis or agenesis of the corpus callosum, blepharophimosis, and marfanoid habitus having variable phenotypic expressivity. tmpaxzxjjyw_mondo_relaxed.owl X-linked syndromic intellectual disability caused by mutation in MED12|MED12-related intellectual disability syndrome|MED12 X-linked syndromic intellectual disability 2018-03-09 01:45:27+00:00 owl:Class HGNC:6617 biolink:NamedThing LIPA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007431 biolink:NamedThing dens in dente and palatal invaginations tmpaxzxjjyw_mondo_relaxed.owl dens in dente and palatal INVAGINATIONS OMIM:125300|GARD:0010069|UMLS:C1852250|MESH:C538211 owl:Class MONDO:0014856 biolink:NamedThing combined oxidative phosphorylation defect type 30 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT10C gene. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency 30|combined oxidative phosphorylation deficiency caused by mutation in TRMT10C|COXPD30|TRMT10C combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 30 EFO:0009038|OMIM:616974|DOID:0111471|Orphanet:478042|UMLS:C4310773 owl:Class MONDO:0018407 biolink:NamedThing male infertility due to obstructive azoospermia of genetic origin tmpaxzxjjyw_mondo_relaxed.owl Male infertility due to impaired sperm transport of genetic origin 2022-03-01 ICD10:N46|Orphanet:399998 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class UBERON:0010360 biolink:NamedThing pharyngeal arch mesenchyme from head mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0065010 biolink:NamedThing extracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. tmpaxzxjjyw_mondo_relaxed.owl extracellular membrane-enclosed organelle owl:Class GO:0043227 biolink:NamedThing membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl membrane-enclosed organelle owl:Class MONDO:0006660 biolink:NamedThing arthus reaction A localized vasculitis resulting from deposition of antibody-antigen complexes. tmpaxzxjjyw_mondo_relaxed.owl arthus reaction (function)|arthus reaction|arthus phenomenon|arthus type urticaria ICD10:T78.41|MedDRA:10003420|UMLS:C0003907|EFO:1000821|NCIT:C34400|DOID:1556|ICD9:708.8|SCTID:402413008|ICD9:995.21|MESH:D001183 Editor note: DO classifies as type III, NCIT as type I owl:Class MONDO:0007004 biolink:NamedThing type III hypersensitivity disease Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa. tmpaxzxjjyw_mondo_relaxed.owl type III hypersensitivity reaction|type 3 hypersensitivity reaction|immune complex disease|disorder of type III hypersensitivity|hypersensitivity reaction type III disease|type III hypersensitivity DOID:1557|UMLS:C0020951|MedDRA:10045265|MESH:D007105|NCIT:C114346|EFO:1001222 owl:Class HGNC:21158 biolink:NamedThing RNF135 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030859 biolink:NamedThing COACH syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl COACH2 OMIM:619111 owl:Class MONDO:0100349 biolink:NamedThing COACH syndrome A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl cerebellar vermis hypoplasia, oligophrenia, ataxia, colobomas, and hepatic fibrosis SCTID:721847002|OMIM:216360|OMIM:619113|OMIM:619111 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0045580 biolink:NamedThing regulation of T cell differentiation Any process that modulates the frequency, rate or extent of T cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl regulation of T-cell differentiation|regulation of T-lymphocyte differentiation|regulation of T lymphocyte differentiation|regulation of T cell development owl:Class GO:0045619 biolink:NamedThing regulation of lymphocyte differentiation Any process that modulates the frequency, rate or extent of lymphocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl regulation of lymphocyte development owl:Class MONDO:0016292 biolink:NamedThing nodular neuronal heterotopia tmpaxzxjjyw_mondo_relaxed.owl genetic nodular heterotopia|hereditary nodular heterotopia|nodular heterotopia OMIM:617201|OMIM:612881|GARD:0002661|OMIM:608097|OMIM:300049|OMIM:608098|ICD10:Q04.8|Orphanet:2149|OMIM:615544|SCTID:253151003 https://rarediseases.info.nih.gov/diseases/2661/hereditary-nodular-heterotopia owl:Class HP:0031263 biolink:NamedThing Abnormal renal corpuscle morphology Any anomolous structure of the renal corpuscle, which is the initial component of the nephron that filters blood. The renal corpuscle consists of a knot of capillaries (glomerulus) that is surrounded by a double-walled capsule (Bowman capsule) that opens into a renal tubule. tmpaxzxjjyw_mondo_relaxed.owl 2017-08-12 18:30:25+00:00 peter human_phenotype owl:Class HP:0011035 biolink:NamedThing Abnormal renal cortex morphology An abnormality of the cortex of the kidney. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of renal cortex morphology UMLS:C4023580 peter 2011-03-06T11:31:39Z human_phenotype owl:Class HGNC:11596 biolink:NamedThing TBX19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003622 biolink:NamedThing pancreatic vasoactive intestinal peptide producing tumor A usually malignant pancreatic neuroendocrine tumor producing vasoactive intestinal peptide (VIP). It may or may not be associated with inappropriate secretion of VIP and an associated clinical syndrome. tmpaxzxjjyw_mondo_relaxed.owl pancreatic VIP producing neoplasm|pancreatic vasoactive intestinal peptide producing neoplasm|pancreatic VIP-producing neuroendocrine tumor|pancreatic VIP producing NET|pancreatic vasoactive intestinal peptide producing tumor|pancreatic VIP producing tumor DOID:5741|UMLS:C2033037|NCIT:C27454 owl:Class MONDO:0019960 biolink:NamedThing VIPoma VIPoma is an extremely rare type of pancreatic neuroendocrine tumor that secretes vasoactive intestinal polypeptide (VIP) leading to the manifestations of watery diarrhea, hypokalemia and achlorhydia or hypochhlorhydia (known as WDHA syndrome). tmpaxzxjjyw_mondo_relaxed.owl VIP- secreting neoplasm|WDHA syndrome|VIP-producing neuroendocrine tumor|VIP-secreting tumor|VIP- secreting tumor|pancreatic vipoma|VIP producing neoplasm|VIP-producing NET|watery diarrhea, hypokalemia, and achlorhydria syndrome|watery diarrhea-hypokalemia-achlorhydria syndrome|vasoactive intestinal peptide producing neoplasm|vasoactive intestinal peptide-secreting tumor|vasoactive intestinal peptide (VIP) tumor|VIPoma, malignant|Diarrheogenic islet cell tumor|pancreatic cholera|Verner-Morrison syndrome|vasoactive intestinal peptide producing tumor|vasoactive intestinal peptide-producing tumor|malignant vasoactive intestinal peptide-secreting tumor|vasoactive intestinal peptide secreting neoplasm|VIPoma UMLS:C0011993|EFO:1000622|DOID:5574|Orphanet:97282|NCIT:C26749|ICD9:239.7|SCTID:253005002|GARD:0003787|MedDRA:10047430|ICD10:E16.8|GARD:0005493|MESH:D003969|ICDO:8155/1 owl:Class NCBITaxon:186938 biolink:NamedThing Respirovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2560076 biolink:NamedThing Orthoparamyxovirinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0033152 biolink:NamedThing immunoglobulin V(D)J recombination The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. tmpaxzxjjyw_mondo_relaxed.owl immunoglobulin V-D-J recombination|immunoglobulin V-D-J joining|immunoglobulin V-J recombination|immunoglobulin V-J joining|immunoglobulin V(D)J joining owl:Class HP:0000011 biolink:NamedThing Neurogenic bladder A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. tmpaxzxjjyw_mondo_relaxed.owl Lack of bladder control due to nervous system injury UMLS:C0005697|SNOMEDCT_US:398064005|SNOMEDCT_US:397732007|MSH:D001750 Neurogenic bladder sphincter dysfunction (NBSD) can develop as a result of a lesion at any level in the nervous system, including the cerebral cortex, spinal cord, or peripheral nervous system. Neurologic conditions in children leading to neurogenic bladder dysfunction are predominantly congenital neural tube defects (including myelomeningocele, lipomeningocele, sacral agenesis, and occult lesions causing tethered cord). Acquired causes such as spinal cord tumors or trauma or sequelae of transverse myelitis are less frequent. Whereas from an etiologic standpoint neurogenic bladder dysfunction is a heterogeneous group, medical management will be similar irrespective of the underlying cause. human_phenotype owl:Class HP:0000009 biolink:NamedThing Functional abnormality of the bladder Dysfunction of the urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl Poor bladder function UMLS:C3806583 HP:0004424|HP:0008731 human_phenotype owl:Class HP:0002718 biolink:NamedThing Recurrent bacterial infections Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection. tmpaxzxjjyw_mondo_relaxed.owl Recurrent major bacterial infections|Prone to bacterial infection|Bacterial infections, recurrent|Frequent pyogenic infections|Recurrent pyogenic infections|Increased susceptibility to bacterial infections|Frequent bacterial infections|Recurrent bacterial infections|Susceptibility to pyogenic infection UMLS:C4020846|UMLS:C1844383|SNOMEDCT_US:428875002|UMLS:C2748958 HP:0005361|HP:0005410|HP:0005355|HP:0005393|HP:0005367|HP:0005391 human_phenotype owl:Class GO:0050709 biolink:NamedThing negative regulation of protein secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of protein secretion|down regulation of protein secretion|inhibition of protein secretion|downregulation of protein secretion owl:Class MONDO:0002000 biolink:NamedThing anaerobic meningitis tmpaxzxjjyw_mondo_relaxed.owl meningitis due to anaerobic bacteria|meningitis caused by anaerobic bacteria UMLS:C0854214|SCTID:445059005|DOID:14559|ICD9:320.81 owl:Class MONDO:0024389 biolink:NamedThing anaerobic bacteria infectious disease tmpaxzxjjyw_mondo_relaxed.owl infection due to anaerobic bacteria|anaerobic bacterial infection|infection caused by anaerobic bacteria UMLS:C0854328|ICD9:041.84|SCTID:423451008 Editor note: DP owl:Class MONDO:0016085 biolink:NamedThing Cole-Carpenter syndrome Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia). tmpaxzxjjyw_mondo_relaxed.owl Cole Carpenter syndrome|bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome ICD10:Q78.0|GARD:0001425|UMLS:C1862178|NCIT:C130985|MESH:C535963|OMIM:616294|Orphanet:2050|OMIM:112240|DOID:0060438|OMIMPS:112240 owl:Class CHEBI:76870 biolink:NamedThing EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitor An EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor that interferes with the action of any such enzyme using oxygen as acceptor (EC 1.9.3.*). tmpaxzxjjyw_mondo_relaxed.owl EC 1.9.3.* inhibitors|oxidoreductase acting on donor heme group, oxygen as acceptor (EC 1.9.3.*) inhibitor|EC 1.9.3.* inhibitor|EC 1.9.3.* (oxidoreductase acting on donor heme group, oxygen as acceptor) inhibitors|oxidoreductase acting on donor heme group, oxygen as acceptor (EC 1.9.3.*) inhibitors owl:Class CHEBI:76736 biolink:NamedThing EC 1.9.* (oxidoreductase acting on donor heme group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on a heme group of donors (EC 1.9.*.*). tmpaxzxjjyw_mondo_relaxed.owl EC 1.9.* (oxidoreductase acting on donor heme group) inhibitors|EC 1.9.* inhibitor|oxidoreductase acting on a heme group of donors (EC 1.9.*) inhibitors|EC 1.9.* (oxidoreductase acting on a heme group of donors) inhibitors|EC 1.9.* (oxidoreductase acting on a heme group of donors) inhibitor|oxidoreductase acting on a heme group of donors (EC 1.9.*) inhibitor|EC 1.9.* inhibitors owl:Class MONDO:0020769 biolink:NamedThing Menke-Hennekam syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl MKHK2|Menke-Hennekam syndrome 2 OMIM:618333 owl:Class MONDO:0020774 biolink:NamedThing Menke-Hennekam syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:618332|Orphanet:592574 owl:Class UBERON:0003069 biolink:NamedThing otic placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003067 biolink:NamedThing dorsolateral placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005162 biolink:NamedThing multi cell part structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004484 biolink:NamedThing gallbladder melanoma A melanoma that arises from the gallbladder. tmpaxzxjjyw_mondo_relaxed.owl melanoma of gallbladder|melanoma (disease) of gall bladder|malignant melanoma of the gallbladder|malignant melanoma of gallbladder|gall bladder melanoma (disease)|gall bladder melanoma|gallbladder melanoma|melanoma of the gallbladder|gallbladder malignant melanoma DOID:8167|NCIT:C5735|UMLS:C1333749 owl:Class MONDO:0024502 biolink:NamedThing gallbladder neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine neoplasm of gall bladder|gall bladder neuroendocrine tumor, well differentiated, low or intermediate grade|gallbladder neuroendocrine neoplasm|gall bladder neuroendocrine neoplasm|gall bladder neuroendocrine tumor|gall bladder NET UMLS:C3273115|NCIT:C96917 owl:Class MONDO:0006045 biolink:NamedThing ovarian clear cell adenocarcinoma A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia. tmpaxzxjjyw_mondo_relaxed.owl ovarian clear cell adenocarcinoma|ovary clear cell adenocarcinoma|clear cell adenocarcinoma of ovary|clear cell adenocarcinoma of the ovary UMLS:CN205034|Orphanet:398971|NCIT:C40078|DOID:5304|EFO:1000042|ICD10:C56|UMLS:C1518693|SCTID:763131005 owl:Class MONDO:0000548 biolink:NamedThing ovarian clear cell cancer An invasive malignant neoplasm that arises from the ovary and is characterized by a predominance of clear and hobnail malignant epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl malignant ovarian clear cell neoplasm|clear-cell ovarian carcinoma|ovarian clear cell carcinoma|malignant ovarian clear cell tumor NCIT:C40077|UMLS:C1518230|DOID:0050934 owl:Class MONDO:0017412 biolink:NamedThing 2q31.1 microduplication syndrome tmpaxzxjjyw_mondo_relaxed.owl dup(2)(q31.1)|trisomy 2q31.1 2022-04-01 ICD10:Q92.3|UMLS:CN203162|Orphanet:294026 Reason: duplicate. This will be merged with MONDO:0013363 chromosome 2q31.1 duplication syndrome owl:Class MONDO:0006980 biolink:NamedThing struma ovarii An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue. The aberrant thyroid tissue shows morphologic changes identical to thyroid adenoma or carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or Meigs syndrome (ascites and pleural effusion). tmpaxzxjjyw_mondo_relaxed.owl struma ovarii NOS (morphologic abnormality)|struma ovarii (morphologic abnormality)|struma ovarii DOID:2640|NCIT:C7468|ICDO:9090/0|UMLS:C0038478|EFO:1001192|MESH:D013330 owl:Class MONDO:0002372 biolink:NamedThing ovarian monodermal and highly specialized teratoma A teratoma of the ovary composed exclusively or predominantly of a single type of tissue derived from the ectoderm or endoderm. A representative example is struma ovarii which is a teratoma composed exclusively or predominantly of thyroid tissue. tmpaxzxjjyw_mondo_relaxed.owl ovarian monodermal and highly specialized teratoma|ovarian germ cell monodermal and highly specialized teratoma NCIT:C8113|UMLS:C0280134|DOID:2641 owl:Class MONDO:0022644 biolink:NamedThing cardiac hydatid cysts with intracavitary expansion tmpaxzxjjyw_mondo_relaxed.owl Cardiac hydatidosis GARD:0000199 https://rarediseases.info.nih.gov/diseases/199/cardiac-hydatid-cysts-with-intracavitary-expansion owl:Class GO:0009605 biolink:NamedThing response to external stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an external stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to environmental stimulus owl:Class CHEBI:17295 biolink:NamedThing L-phenylalanine The L-enantiomer of phenylalanine. tmpaxzxjjyw_mondo_relaxed.owl Phe|PHENYLALANINE|(2S)-2-amino-3-phenylpropanoic acid|beta-phenyl-L-alanine|F|3-phenyl-L-alanine|(S)-2-Amino-3-phenylpropionic acid|(S)-alpha-Amino-beta-phenylpropionic acid|L-Phenylalanine|L-phenylalanine owl:Class CHEBI:28044 biolink:NamedThing phenylalanine An aromatic amino acid that is alanine in which one of the methyl hydrogens is substituted by a phenyl group. tmpaxzxjjyw_mondo_relaxed.owl DL-Phenylalanine|fenilalanina|Phenylalanin|Phenylalanine|2-amino-3-phenylpropanoic acid|F|alpha-Amino-beta-phenylpropionic acid|phenylalanine|PHE owl:Class OBO:CHR_9606-chr9q34 biolink:NamedThing 9q34 (Human) tmpaxzxjjyw_mondo_relaxed.owl 138394717 127500000 hg38 owl:Class MONDO:0003800 biolink:NamedThing conventional malignant hemangiopericytoma A malignant hemangiopericytoma characterized by the presence of necrotic changes and in some cases high mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl conventional malignant hemangiopericytoma NCIT:C9425|UMLS:C1333158|DOID:6197 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0021515 biolink:NamedThing benign neoplasm of ethmoidal sinus A benign neoplasm that involves the ethmoid sinus. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the ethmoid sinus|benign neoplasm of the ethmoidal sinus|benign tumor of ethmoid sinus|benign ethmoidal sinus tumor|ethmoid sinus benign neoplasm|benign ethmoid sinus tumor|benign tumor of the ethmoidal sinus|benign neoplasm of ethmoid sinus|benign ethmoidal sinus neoplasm|benign tumor of the ethmoid sinus|benign ethmoid sinus neoplasm|benign tumor of ethmoidal sinus SCTID:92093000|NCIT:C4417|UMLS:C0345670|ICD9:212.0 owl:Class UBERON:0001259 biolink:NamedThing mucosa of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008370 biolink:NamedThing reticular dystrophy of retinal pigment epithelium tmpaxzxjjyw_mondo_relaxed.owl reticular dystrophy of retinal pigment epithelium Orphanet:99002|UMLS:C1867332|MESH:C566721|OMIM:179840|SCTID:723502001 owl:Class MONDO:0009979 biolink:NamedThing reticular dystrophy of the retinal pigment epithelium Reticular dystrophy of the retinal pigment epithelium is a patterned dystrophy of the retinal pigment epithelium, of progressive course, characterized by the presence of a bilateral hyperpigmented reticular pattern resembling a fishnet with knots, resulting in a slowly progressive loss of vision that often only becomes apparent in old age. Reticular dystrophy of the retinal pigment epithelium is sometimes associated with scleral staphyloma, choroidal neovascularization, convergent strabismus, spherophakia with myopia and luxated lenses, and partial atrophy of the iris. tmpaxzxjjyw_mondo_relaxed.owl retinal dystrophy, reticular pigmentary, of POSTERIOR POLE OMIM:179840|MESH:C564844|ICD10:H35.5|Orphanet:99002|OMIM:617175|UMLS:C1867332|OMIM:267800 owl:Class MONDO:0019145 biolink:NamedThing hereditary thrombophilia due to congenital protein C deficiency Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C. tmpaxzxjjyw_mondo_relaxed.owl Protein C deficiency disease|hereditary thrombophilia due to PC deficiency|protein C deficiency|Protein C deficiency|hereditary thrombophilia due to congenital protein C deficiency|severe hereditary thrombophilia due to congenital protein C deficiency|autosomal recessive thrombophilia due to PC deficiency|autosomal recessive thrombophilia due to congenital protein C deficiency Orphanet:745|MESH:D020151|MESH:C535424|ICD10:D68.2|OMIM:612304|ICD10:D68.59|NCIT:C99025|DOID:3756|OMIM:176860|SCTID:76407009 owl:Class MONDO:0018384 biolink:NamedThing avascular necrosis of genetic origin An instance of avascular necrosis that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic avascular necrosis Orphanet:399388|ICD10:M93.9 owl:Class MONDO:0013175 biolink:NamedThing retinitis pigmentosa 50 Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa, concentric|retinitis pigmentosa 50|BEST1 retinitis pigmentosa|RP50|retinitis pigmentosa caused by mutation in BEST1|retinitis pigmentosa type 50 MESH:C567712|ICD10:H35.5|OMIM:613194|DOID:0110396 owl:Class NCBITaxon:30727 biolink:NamedThing Cyprinoidei tmpaxzxjjyw_mondo_relaxed.owl Cyprinoidea GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7952 biolink:NamedThing Cypriniformes tmpaxzxjjyw_mondo_relaxed.owl carps and others GC_ID:1 ncbi_taxonomy owl:Class UBERON:0036268 biolink:NamedThing pelvic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019258 biolink:NamedThing mild phenylketonuria Mild phenylketonuria is a rare form of phenylketouria (PKU), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. tmpaxzxjjyw_mondo_relaxed.owl mild PKU|variant PKU|mPKU|variant phenylketonuria ICD10:E70.1|GARD:0010324|Orphanet:79253 https://rarediseases.info.nih.gov/diseases/10324/mild-phenylketonuria owl:Class HGNC:24124 biolink:NamedThing ACTL6A tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0007370 biolink:NamedThing Aplasia/Hypoplasia of the corpus callosum Absence or underdevelopment of the corpus callosum. tmpaxzxjjyw_mondo_relaxed.owl Complete or partial absence of the corpus callosum|Agenesis/hypoplastic corpus callosum|Absent/hypoplastic corpus callosum|Hypoplastic or absent corpus callosum|Hypoplasia or absence of the corpus callosum UMLS:C1861866 peter 2008-04-01T10:35:00Z HP:0007003|HP:0007060|HP:0007061|HP:0007137 human_phenotype owl:Class MONDO:0013202 biolink:NamedThing Waardenburg syndrome type 4C A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in SOX10. tmpaxzxjjyw_mondo_relaxed.owl Waardenburg syndrome type 4C|Waardenburg syndrome type IVC|Waardenburg syndrome with Hirschsprung disease, type 4C|WS4C|Waardenburg syndrome, type 4C|Waardenburg syndrome with Hirschsprung disease type 4C UMLS:C2750452|OMIM:613266|Orphanet:897|MESH:C567679|DOID:0110955 owl:Class CHEBI:57869 biolink:NamedThing 6-aminopenicillanic acid zwitterion Zwitterionic form of 6-aminopenicillanic acid arising from migration of a proton from the carboxy group to the 6-amino group; major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl 6-aminopenicillanate|(2S,5R,6R)-6-azaniumyl-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylate|6-azaniumyl-2,2-dimethylpenam-3alpha-carboxylate owl:Class CHEBI:35238 biolink:NamedThing amino acid zwitterion The zwitterionic form of an amino acid having a negatively charged carboxyl group and a positively charged amino group. tmpaxzxjjyw_mondo_relaxed.owl amino acid zwitterion owl:Class CHEBI:33282 biolink:NamedThing antibacterial agent A substance (or active part thereof) that kills or slows the growth of bacteria. tmpaxzxjjyw_mondo_relaxed.owl bactericides|antibacterials|antibacterial agents|bactericide owl:Class MONDO:0009067 biolink:NamedThing cystinuria Cystinuria is a renal tubular amino acid transport disorder characterized by recurrent formation of kidneys cystine stones. tmpaxzxjjyw_mondo_relaxed.owl cystinuria, type A/B|cystinuria, type III|cystinuria, type III, formerly|cystinuria, type a|cystinuria|cystinuria, type II, formerly|cystinuria (disease)|cystinuria, type non-I|cystinuria, type non-I, formerly|cystinuria, type II|CSNU|cystinuria-lysinuria syndrome|cystinuria, type B|cystinuria, type I|cystinuria-lysinuria|cystinuria, type I, formerly cystinuria (disease) HP:0003131|SCTID:85020001|Orphanet:93612|ICD10:E72.0|ICD10:E72.01|GARD:0006237|NCIT:C84664|OMIM:220100|MESH:D003555|DOID:9266|UMLS:C0010691|UMLS:C1857389|Orphanet:214|Orphanet:93613|MedDRA:10011778 https://rarediseases.info.nih.gov/diseases/6237/cystinuria owl:Class NCBITaxon:649188 biolink:NamedThing Lujo mammarenavirus tmpaxzxjjyw_mondo_relaxed.owl Lujo virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000551 biolink:NamedThing retroperitoneal neuroblastoma A neuroblastoma that involves the retroperitoneal space. tmpaxzxjjyw_mondo_relaxed.owl retroperitoneal space neuroblastoma|neuroblastoma of retroperitoneal space DOID:0050937 owl:Class MONDO:0008218 biolink:NamedThing Hailey-Hailey disease Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva). tmpaxzxjjyw_mondo_relaxed.owl familial benign chronic pemphigus|pemphigus, benign familial|Hailey-Hailey disease|familial benign pemphigus|benign chronic familial pemphigus of Hailey-Hailey|BCPM|benign familial pemphigus|benign chronic pemphigus SCTID:79468000|DOID:0050429|OMIM:169600|UMLS:C0085106|NCIT:C82865|ICD10:Q82.8|GARD:0006559|Orphanet:2841|MESH:D016506 https://rarediseases.info.nih.gov/diseases/6559/hailey-hailey-disease owl:Class MONDO:0017684 biolink:NamedThing disorder of beta and omega amino acid metabolism tmpaxzxjjyw_mondo_relaxed.owl SCTID:237940008|ICD9:270.8|Orphanet:308407|UMLS:C0342707 owl:Class MONDO:0019189 biolink:NamedThing inborn disorder of amino acid and other organic acid metabolism tmpaxzxjjyw_mondo_relaxed.owl disorder of amino acid and organic acid metabolism|disorder of amino acid and other organic acid metabolism UMLS:C0342666|ICD9:270.8|SCTID:237911005|Orphanet:79062 owl:Class MONDO:0005280 biolink:NamedThing prostatitis An infectious or non-infectious inflammatory process affecting the prostate gland. tmpaxzxjjyw_mondo_relaxed.owl prostate gland inflammation|prostatitis (disease)|inflammation of prostate gland|prostatitis prostatitis (disease) EFO:0003830|UMLS:C0033581|SCTID:9713002|ICD10:N41.9|HP:0000024|ICD9:601.9|NCIT:C26866|ICD9:601|ICD10:N41|ICD9:601.4|DOID:14654|ICD9:601.8|MESH:D011472 owl:Class MONDO:0003012 biolink:NamedThing sarcomatoid renal cell carcinoma A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade. tmpaxzxjjyw_mondo_relaxed.owl renal cell carcinoma with sarcomatoid features|RCC w/ sarcomatoid features|SRCC|sarcomatoid renal cell carcinoma|sarcomatoid renal cell cancer|renal cell carcinoma, spindle cell UMLS:C1266043|DOID:4473|NCIT:C27893|ONCOTREE:SRCC|ICDO:8318/3|MESH:D002292 owl:Class MONDO:0000294 biolink:NamedThing mesocestoidiasis An disease or disorder caused by infection with Mesocestoides. tmpaxzxjjyw_mondo_relaxed.owl Mesocestoides infectious disease|Mesocestoides disease or disorder|Mesocestoides caused disease or disorder|infection caused by Mesocestoides|infection by Mesocestoides DOID:0050253|UMLS:C0277110|SCTID:85750001|UMLS:C0277108 owl:Class MONDO:0023147 biolink:NamedThing fetal parainfluenza virus type 3 syndrome A syndrome caused by HPIV-3. tmpaxzxjjyw_mondo_relaxed.owl Human respirovirus 3 caused infectious embryofetopathy|Human respirovirus 3 infectious embryofetopathy GARD:0002309 https://rarediseases.info.nih.gov/diseases/2309/fetal-parainfluenza-virus-type-3-syndrome owl:Class MONDO:0020781 biolink:NamedThing encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 tmpaxzxjjyw_mondo_relaxed.owl ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1|NAD(P)HX epimerase deficiency|PEBEL1 OMIM:617186|Orphanet:555407|EFO:0009158 owl:Class UBERON:0008836 biolink:NamedThing liver bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009497 biolink:NamedThing epithelium of foregut-midgut junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006730 biolink:NamedThing drug psychosis Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance. tmpaxzxjjyw_mondo_relaxed.owl drug-induced psychosis|drug-induced psychotic disorder EFO:1000902|SCTID:191483003|DOID:1742|MESH:D011605|MedDRA:10045855|ICD9:292.1 owl:Class MONDO:0001423 biolink:NamedThing drug-induced mental disorder tmpaxzxjjyw_mondo_relaxed.owl DOID:1203|ICD9:292.8|ICD9:292.89 owl:Class GO:0033143 biolink:NamedThing regulation of intracellular steroid hormone receptor signaling pathway Any process that modulates the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl regulation of steroid hormone receptor signalling pathway|regulation of steroid hormone receptor signaling pathway owl:Class MONDO:0032911 biolink:NamedThing hearing loss, autosomal dominant 75 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant 75|DFNA75|DEAFNESS, AUTOSOMAL DOMINANT 75 OMIM:618778 owl:Class MONDO:0002314 biolink:NamedThing chronic conjunctivitis Conjunctivitis that is persistent and long-standing. tmpaxzxjjyw_mondo_relaxed.owl chronic conjunctivitis|chronic conjunctivitis (disease)|chronic conjunctivitis, unspecified|conjunctivitis (disease), chronic ICD9:372.1|ICD9:372.10|DOID:2475|NCIT:C35197|ICD10:H10.40|UMLS:C0155145|ICD10:H10.4|SCTID:73762008 owl:Class MONDO:0001174 biolink:NamedThing conjunctival vascular disorder A disorder of the vasculature of the cornea. tmpaxzxjjyw_mondo_relaxed.owl vascular abnormalities of conjunctiva|disease or disorder of conjunctival vasculature|conjunctival vascular disorder|conjunctival vasculature disease or disorder|conjunctival vasculature disease|conjunctival vascular abnormality|disorder of conjunctival vasculature|disease of conjunctival vasculature SCTID:74100001|ICD9:372.74|DOID:10989|NCIT:C35116|ICD10:H11.41 owl:Class MONDO:0005552 biolink:NamedThing ocular vascular disorder A disorder that is caused by pathologic changes in the ocular vasculature. tmpaxzxjjyw_mondo_relaxed.owl vasculature of eye disease or disorder|disease or disorder of vasculature of eye|vasculature of eye disease|disease of vasculature of eye|ocular vascular disorder|disorder of vasculature of eye NCIT:C35664|EFO:0005753 owl:Class MONDO:0012274 biolink:NamedThing acromesomelic dysplasia, Demirhan type tmpaxzxjjyw_mondo_relaxed.owl AMDD|chondrodysplasia, acromesomelic, with or without genital anomalies|chondrodysplasia acromesomelic with genital anomalies|acromesomelic dysplasia, Demirhan type|acromesomelic dysplasia, DEMIRHAN type OMIM:609441|GARD:0010077|MESH:C537913 https://rarediseases.info.nih.gov/diseases/10077/chondrodysplasia-acromesomelic-with-genital-anomalies owl:Class MONDO:0015217 biolink:NamedThing non-syndromic developmental defect of the eye A developmental defect of the eye that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl isolated developmental defect of the eye|nonsyndromic developmental defect of the eye Orphanet:108985 owl:Class ECTO:7000012 biolink:NamedThing exposure to soil A exposure event involving the interaction of an exposure receptor to soil. tmpaxzxjjyw_mondo_relaxed.owl soil exposure owl:Class MONDO:0014546 biolink:NamedThing myopathy due to calsequestrin and SERCA1 protein overload Myopathy due to calsequestrin and SERCA1 protein overload is characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms. tmpaxzxjjyw_mondo_relaxed.owl myopathy, vacuolar, with CASQ1 aggregates|VMCQA UMLS:C4015624|SCTID:724095006|OMIM:616231|UMLS:C4510368|Orphanet:88635|ICD10:G71.8 owl:Class MONDO:0001704 biolink:NamedThing vaginal glandular neoplasm A benign or malignant neoplasm that arises from the vagina and is characterized by the presence of neoplastic glandular epithelial cells. Representative examples include adenoma, endometrioid adenocarcinoma, and clear cell adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl vaginal glandular neoplasm|vagina glandular cell neoplasm|vaginal glandular tumor DOID:134|UMLS:C1519921|NCIT:C40250 owl:Class MONDO:0021050 biolink:NamedThing vaginal neoplasm A benign or malignant neoplasm affecting the vagina. Representative examples of benign neoplasms include squamous papilloma and melanocytic nevus. Representative examples of malignant neoplasms include carcinoma, melanoma, and sarcoma. tmpaxzxjjyw_mondo_relaxed.owl vaginal neoplasm|vagina tumor|tumor of the vagina|tumor of vagina|vaginal tumor|neoplasm of the vagina|vagina neoplasm|neoplasm of vagina|vagina neoplasm (disease) EFO:1001447|NCIT:C3437|ICD9:239.5|ONCOTREE:VULVA|SCTID:126921000 Editor note: we place the oncotree class here for consistency of placing of child classes, although it represents both vagina and vulva owl:Class MONDO:0003070 biolink:NamedThing axillary lymphadenitis An infection of the lymph nodes in the axilla. tmpaxzxjjyw_mondo_relaxed.owl axillary adenitis|axilla lymphadenitis (disease)|axillary lymphadenitis|lymphadenitis (disease) of axilla NCIT:C27333|DOID:4640|UMLS:C0919797 owl:Class MONDO:0015526 biolink:NamedThing cold-induced sweating syndrome Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature. tmpaxzxjjyw_mondo_relaxed.owl Sohar-Crisponi syndrome|CISS Orphanet:157820|SCTID:702363009|OMIMPS:272430|OMIM:617055|UMLS:CN043579|OMIM:272430|ICD10:G90.8|DOID:0060294|MESH:C536214|OMIM:610313 owl:Class MONDO:0018431 biolink:NamedThing cold-induced sweating syndrome - hyperthermia spectrum tmpaxzxjjyw_mondo_relaxed.owl ICD10:G90.8|Orphanet:401993|UMLS:CN226150 Editor note: in ORDO this is classified as AR, but this leads to inconsistencies due to AD forms owl:Class ENVO:00000194 biolink:NamedThing scree Broken rock that appears at the bottom of crags, mountain cliffs or valley shoulders. tmpaxzxjjyw_mondo_relaxed.owl talus slope|TALUS owl:Class HsapDv:0000113 biolink:NamedThing 19-year-old human stage Young adult stage that refers to an adult who is under 20. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012605 biolink:NamedThing isolated microphthalmia 5 Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene. tmpaxzxjjyw_mondo_relaxed.owl isolated microphthalmia type 5|Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|microphthalmia, isolated 5|microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome|MCOP5|MFRP isolated microphthalmia|isolated microphthalmia 5|microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic Disc drusen|posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen|microphthalmia, isolated type 5|isolated microphthalmia caused by mutation in MFRP MESH:C567024|UMLS:C1970236|Orphanet:251279|OMIM:611040|DOID:0060837|ICD10:Q15.8 owl:Class MONDO:0020589 biolink:NamedThing cardiac germ cell tumor A germ cell tumor that arises within the myocardium or cardiac chambers. The reported cases have been teratomas and yolk sac tumors. tmpaxzxjjyw_mondo_relaxed.owl heart germ cell tumor|cardiac germ cell tumor NCIT:C147005 owl:Class HsapDv:0000112 biolink:NamedThing 18-year-old human stage Adolescent stage that refers to an adolescent who is over 18 and under 19 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0065003 biolink:NamedThing protein-containing complex assembly The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. tmpaxzxjjyw_mondo_relaxed.owl macromolecular complex assembly|protein complex assembly|protein complex formation|chaperone activity|macromolecule complex assembly owl:Class GO:0022607 biolink:NamedThing cellular component assembly The aggregation, arrangement and bonding together of a cellular component. tmpaxzxjjyw_mondo_relaxed.owl cell structure assembly|cellular component assembly at cellular level owl:Class MONDO:0010038 biolink:NamedThing growth delay due to insulin-like growth factor I resistance Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum). tmpaxzxjjyw_mondo_relaxed.owl insulin-like growth factor I, resistance to|Somatomedin-c resistance to|IGF1RES|resistance to IGF-1|Somatomedin end-organ insensitivity to|insulin-like Growth Factor I, resistance to, due to increased binding Protein|IGF-I resistance|IGF-1 resistance|Somatomedin-C, resistance to|insulin-like growth factor 1 resistance to|Somatomedin, end-organ insensitivity to|growth delay due to insulin-like growth factor I resistance GARD:0010609|ICD10:E34.3|Orphanet:73273|MESH:C564816|UMLS:C1849157|OMIM:270450|SCTID:715625007 https://rarediseases.info.nih.gov/diseases/10609/insulin-like-growth-factor-1-resistance-to owl:Class CL:0000835 biolink:NamedThing myeloblast The most primitive precursor in the granulocytic series, having fine, evenly distributed chromatin, several nucleoli, a high nuclear-to-cytoplasmic ration (5:1-7:1), and a nongranular basophilic cytoplasm. They reside in the bone marrow. tmpaxzxjjyw_mondo_relaxed.owl FMA:83524|BTO:0000187 cell owl:Class CL:0000763 biolink:NamedThing myeloid cell A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-0647|BTO:0001441 cell owl:Class UBERON:0001273 biolink:NamedThing ilium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003686 biolink:NamedThing apocrine sweat gland neoplasm A benign or malignant sweat gland neoplasm with apocrine differentiation. Representative examples include apocrine adenoma, ceruminous adenocarcinoma, and apocrine breast carcinoma. tmpaxzxjjyw_mondo_relaxed.owl apocrine tumor of the skin|tumor of apocrine sweat gland|apocrine skin tumor|apocrine skin neoplasm|apocrine neoplasm of the skin|apocrine neoplasm|apocrine tumor|apocrine tumor of skin|neoplasm of apocrine sweat gland|apocrine neoplasm of skin|apocrine sweat gland tumor|apocrine sweat gland neoplasm (disease) NCIT:C6798|DOID:5876|UMLS:C1332318 owl:Class MONDO:0024467 biolink:NamedThing apocrine sweat gland disorder A disease that involves the apocrine sweat gland. tmpaxzxjjyw_mondo_relaxed.owl disorder of apocrine sweat gland|disease of apocrine sweat gland|apocrine sweat gland disease|apocrine sweat gland disease or disorder|disease or disorder of apocrine sweat gland ICD10:L75 owl:Class MONDO:0014825 biolink:NamedThing chromosome 11p13 deletion syndrome, distal tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4311047|OMIM:616902 owl:Class HGNC:9291 biolink:NamedThing PPP1R3A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008007 biolink:NamedThing tooth ankylosis Dental ankylosis is a rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement. tmpaxzxjjyw_mondo_relaxed.owl ankylosis of teeth|permanent molars, secondary retention OF|secondary retention of permanent molars|calcareous tooth ankylosis (disease)|molar I reinclusion|ankylosis of tooth|ankylosis (disease) of calcareous tooth|abnormal fusion of dental cementum with alveolar bone|molar 1 reinclusion|dental ankylosis MedDRA:10044019|EFO:1001215|MESH:D020254|UMLS:C0155930|DOID:12661|ICD9:521.6|Orphanet:1077|OMIM:157950|ICD10:K03.5|SCTID:14901003|GARD:0000701 owl:Class MONDO:0002257 biolink:NamedThing ankylosis Fixation and immobility of a joint. tmpaxzxjjyw_mondo_relaxed.owl ankylosis (disease)|ankylosis ankylosis (disease) HP:0031013|ICD9:718.50|ICD9:718.5|ICD10:M24.6|SCTID:111227009|MESH:D000844|DOID:227 owl:Class UBERON:0007123 biolink:NamedThing pharyngeal pouch 2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010953 biolink:NamedThing Fanconi anemia complementation group E Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. tmpaxzxjjyw_mondo_relaxed.owl FANCE Fanconi anemia|Fanconi anemia complementation group E|FANCE|Fanconi anemia, complementation group E|Fanconi anemia complementation group type E|face|Fanconi anemia caused by mutation in FANCE|Fanconi Anemia, complementation group type E UMLS:C3160739|DOID:0111084|OMIM:600901|NCIT:C125709 owl:Class MONDO:0043264 biolink:NamedThing post-traumatic epilepsy Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6) tmpaxzxjjyw_mondo_relaxed.owl seizure disorder, post traumatic|post-traumatic seizure disorder|traumatic epilepsy|Epilepsies, post-traumatic|traumatic Epilepsies|Epilepsies, traumatic|PTE - post-traumatic epilepsy|post-traumatic Epilepsies|early post-traumatic seizure|seizure, early post-traumatic|seizure, late post-traumatic|convulsions, concussive|early post-traumatic seizures|disorders, post-traumatic seizure|early post traumatic seizures|post-traumatic seizures, late|post traumatic seizure disorder|post-traumatic seizure, late|post-traumatic seizure disorders|post-traumatic seizure, early|seizure disorders, post-traumatic|post-traumatic epilepsy|seizure disorder, post-traumatic|concussive convulsions|convulsion, concussive|epilepsy, post traumatic|post-traumatic seizures, early|late post traumatic seizures|epilepsy, traumatic|late post-traumatic seizures|seizures, early post-traumatic|seizures, late post-traumatic|impact seizure|concussive convulsion|disorder, post-traumatic seizure|late post-traumatic seizure|impact seizures UMLS:C0751126|MESH:D004834|SCTID:75023009|GARD:0007437 owl:Class MONDO:0043982 biolink:NamedThing cubital tunnel syndrome Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43) tmpaxzxjjyw_mondo_relaxed.owl ulnar nerve compression, cubital tunnel|syndromes, cubital tunnel|tunnel syndromes, cubital|cubital tunnel syndrome|syndrome, cubital tunnel|ulnar nerve entrapment, elbow|cubital tunnel syndromes|tunnel syndrome, cubital EFO:1001363|SCTID:56177003|MESH:D020430 owl:Class MONDO:0007006 biolink:NamedThing ulnar neuropathy Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5) tmpaxzxjjyw_mondo_relaxed.owl ulnar neuropathy (disorder) [ambiguous]|ulnar neuropathy|ulnar nerve mononeuropathy|mononeuropathy of ulnar nerve MESH:D020424|SCTID:359837005|DOID:4613|EFO:1001224|UMLS:C0154743 owl:Class MONDO:0001924 biolink:NamedThing dystrophies primarily involving the retinal pigment epithelium tmpaxzxjjyw_mondo_relaxed.owl ICD10:H35.54|DOID:14252|ICD9:362.76 owl:Class MONDO:0043555 biolink:NamedThing infantile diarrhea Diarrhea occurring in infants from newborn to 24-months old. tmpaxzxjjyw_mondo_relaxed.owl toddler diarrhea|Diarrheas, infantile|infantile diarrheal disease|infantile diarrhea|diarrheal disease of infancy|infantile onset diarrheal disease|infantile Diarrheas UMLS:C0473132|SCTID:39963006|MESH:D003968 owl:Class MONDO:0008931 biolink:NamedThing Cenani-Lenz syndactyly syndrome Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. tmpaxzxjjyw_mondo_relaxed.owl Cenani-Lenz syndactyly|syndactyly, type 7|Cenani-Lenz syndactyly syndrome|CLSS|Cenani-Lenz type syndactyly|Cenani syndactyly|Cenani-Lenz syndrome|syndactyly type 7|Cenani syndactylism|syndactyly Cenani Lenz type OMIM:212780|GARD:0005084|SCTID:720633009|DOID:0090015|Orphanet:3258|ICD10:Q78.4|MESH:C538150|UMLS:C1859309 owl:Class MONDO:0007917 biolink:NamedThing lymphedema-cerebral arteriovenous anomaly syndrome Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. tmpaxzxjjyw_mondo_relaxed.owl primary pulmonary hypertension, cerebrovascular malformation and lymphedema feet|lymphedema and cerebral arteriovenous anomaly UMLS:C1835272|OMIM:152900|GARD:0009217|MESH:C563612|Orphanet:86914 owl:Class MONDO:0008758 biolink:NamedThing mitochondrial DNA depletion syndrome 4a Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial DNA depletion syndrome 4A|Alper syndrome|Alpers progressive sclerosing poliodystrophy|AHD|neuronal Degeneration of childhood with liver disease, progressive|AHS|mitochondrial DNA depletion syndrome type 4a|Alpers syndrome|Alpers progressive infantile poliodystrophy|Alper's syndrome|Alpers' disease or gray-matter degeneration|PNDC|infantile poliodystrophy|progressive cerebral poliodystrophy|Alpers Huttenlocher disease|Poliodystrophia cerebri progressiva|Alpers diffuse Degeneration of cerebral Gray matter with hepatic cirrhosis|mitochondrial DNA depletion syndrome 4A (Alpers type)|progressive neuronal degeneration of childhood with liver disease|progressive sclerosing poliodystrophy|Alpers-Huttenlocher syndrome|Alpers disease|MTDPS4A|diffuse cerebral degeneration in infancy|Alpers Huttenlocher syndrome SCTID:20415001|UMLS:C0205710|GARD:0005783|Orphanet:726|ICD10:G31.8|ICD10:G31.81|ICD9:330.8|NCIT:C35257|MedDRA:10062943|OMIM:203700|DOID:0080122|DOID:1442 owl:Class MONDO:0002205 biolink:NamedThing vulvar melanoma A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria. tmpaxzxjjyw_mondo_relaxed.owl vulvar melanoma|melanoma (disease) of mammalian vulva|mammalian vulva melanoma (disease)|vulvar melanoma (disease)|malignant melanoma of vulva|mammalian vulva melanoma vulvar melanoma (disease) NCIT:C40329|DOID:2093|HP:0030418|UMLS:C0241989|SCTID:254896002 owl:Class MONDO:0001528 biolink:NamedThing vulva cancer A primary or metastatic malignant neoplasm involving the vulva. tmpaxzxjjyw_mondo_relaxed.owl malignant mammalian vulva neoplasm|malignant neoplasm of the vulva|malignant neoplasm of vulva, unspecified|mammalian vulva cancer|malignant vulvar tumor|malignant neoplasm of vulva|malignant neoplasm of mammalian vulva|malignant vulva tumor|cancer of mammalian vulva|vulvar cancer|neoplasm of vulva|malignant vulvar neoplasm|malignant vulva neoplasm|malignant tumor of vulva|vulval cancer|Ca vulva|vulval neoplasm|malignant neoplasm of vulva unspecified|malignant tumor of the vulva ICD9:184.4|ICD10:C51|MESH:D014846|GARD:0009349|SCTID:126922007|ICD10:C51.9|DOID:1245|SCTID:363367000|NCIT:C7502 owl:Class NCBITaxon:7776 biolink:NamedThing Gnathostomata tmpaxzxjjyw_mondo_relaxed.owl jawed vertebrates|Gnathostomata GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006187 biolink:NamedThing duodenal villous adenoma A neoplasm that arises from the glandular epithelium of the duodenum. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. tmpaxzxjjyw_mondo_relaxed.owl villous adenoma of duodenum|villous adenoma, duodenum|duodenum villous adenoma|duodenal villous adenoma|villous adenoma of the duodenum|duodenum adenoma UMLS:C1333322|EFO:1000225|NCIT:C5338|DOID:0050927 owl:Class HGNC:2623 biolink:NamedThing CYP2C9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7582 biolink:NamedThing MYL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009267 biolink:NamedThing Gaucher disease type III Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1. tmpaxzxjjyw_mondo_relaxed.owl Gaucher disease, juvenile and adult, cerebral|Gaucher disease, type 3A|Gaucher disease type 3|Gaucher disease type III|Gaucher disease, type 3|Gaucher disease, type III|GD III|Gaucher disease, chronic neuronopathic type|Gaucher disease, Norrbottnian type|Gaucher disease, Subacute neuronopathic type|Gaucher's disease type III|Gaucher disease, subacute neuronopathic type|Gd 3|Gaucher disease, type 3B|cerebral juvenile and adult form of Gaucher disease|chronic neuronopathic Gaucher disease Orphanet:77261|DOID:0110959|ICD10:E75.2|SCTID:5963005|Orphanet:355|OMIM:231000|GARD:0002443 owl:Class GO:0010962 biolink:NamedThing regulation of glucan biosynthetic process Any process that modulates the rate, frequency, or extent of glucan biosynthesis. Glucan biosynthetic processes are the chemical reactions and pathways resulting in the formation of glucans, polysaccharides consisting only of glucose residues. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012259 biolink:NamedThing colloid cysts of third ventricle Colloid cysts of the third ventricle are non-cancerous brain lesions. The third ventricle is a cavity in the brain that is filled with cerebral spinal fluid (CSF). Colloid cysts can cause blockages resulting in a build up of CSF in the brain (hydrocephalus) and increased pressure. Some colloid cysts are asymptomatic while others cause neurological symptoms, such as headaches, swelling of the optic nerve (papilledema), and drop attacks. When symptoms are present onset tends to be in the third to sixth decade of life. While uncommon, symptoms of colloid cyst can become life threatening. tmpaxzxjjyw_mondo_relaxed.owl colloid cysts of third ventricle|neuroepithelial cysts of third ventricle GARD:0009878|MESH:C535966|OMIM:609363 https://rarediseases.info.nih.gov/diseases/9878/colloid-cysts-of-third-ventricle owl:Class MONDO:0002855 biolink:NamedThing ectomesenchymoma An aggressive malignant mesenchymal neoplasm of the nervous system or soft tissues. It is characterized by the presence of a sarcomatous component (most often rhabdomyosarcoma) and a ganglionic or a neuroectodermal component. tmpaxzxjjyw_mondo_relaxed.owl rhabdomyosarcoma with ganglionic differentiation|malignant ectomesenchymoma|sarcoma with ganglionic or neuroectodermal differentiation|ectomesenchymoma|rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality) UMLS:C0431111|NCIT:C4716|GARD:0012279|DOID:4055|ICDO:8921/3 owl:Class MONDO:0008866 biolink:NamedThing bifid nose, autosomal recessive Autosomal recessive form of bifid nose. tmpaxzxjjyw_mondo_relaxed.owl median fissure of Nose|bifid nose, autosomal recessive|autosomal recessive bifid nose|Nose, Median cleft of Orphanet:2695|OMIM:210400 owl:Class GO:0070857 biolink:NamedThing regulation of bile acid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. tmpaxzxjjyw_mondo_relaxed.owl regulation of bile acid anabolism|regulation of bile acid synthesis|regulation of bile acid formation|regulation of bile acid biosynthesis owl:Class MONDO:0007892 biolink:NamedThing Lenz-Majewski hyperostotic dwarfism Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis. tmpaxzxjjyw_mondo_relaxed.owl multiple congenital anomalies, mental retardation and progressive skeletal sclerosis|Lenz-Majewski syndrome|Lenz-Majewski hyperostotic dwarfism|multiple congenital anomalies, intellectual disability and progressive skeletal sclerosis|Lenz Majewski hyperostotic dwarfism|Lenz-Majewski hyperostotic dysplasia|LMHD|hyperostotic dwarfism Lenz-Majewski type DOID:0111507|ICD10:Q87.1|MESH:C537115|OMIM:151050|Orphanet:2658|GARD:0003223 https://rarediseases.info.nih.gov/diseases/3223/lenz-majewski-hyperostotic-dwarfism owl:Class MONDO:0000710 biolink:NamedThing gastroduodenal Crohn disease An inflammatory bowel disease characterized by inflammation located in stomach and located in duodenum, has symptom nausea, has symptom vomiting, has symptom weight loss and has symptom loss of appetite. tmpaxzxjjyw_mondo_relaxed.owl upper GI Crohn's disease|gastroduodenal Crohn's disease DOID:0060191|ICD10:K50.0 owl:Class MONDO:0007865 biolink:NamedThing knuckle pads tmpaxzxjjyw_mondo_relaxed.owl knuckle pads UMLS:C0264000|ICD10:M72.1|SCTID:16687001|OMIM:149100|ICD9:728.79 owl:Class MONDO:0016654 biolink:NamedThing ring chromosome 5 Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). tmpaxzxjjyw_mondo_relaxed.owl R5|Ring chromosome 5 syndrome|rose cluster 5|Ring chromosome type 5|chromosome 5 ring|Ring 5 SCTID:765487008|ICD10:Q93.2|UMLS:C4050064|NCIT:C121984|GARD:0010841|Orphanet:251043 https://rarediseases.info.nih.gov/diseases/10841/ring-chromosome-5 owl:Class MONDO:0004334 biolink:NamedThing non-functional pancreatic neuroendocrine tumor A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the absence of a hormone-related clinical syndrome. tmpaxzxjjyw_mondo_relaxed.owl non-functioning PNET|non-functioning pancreatic NET|nonsyndromic pancreatic neuroendocrine tumor|non-functioning EPTs|nonfunctional pancreatic neuroendocrine tumor|nonfunctional pancreatic NET|non-functioning well-differentiated pancreatic neuroendocrine neoplasm|non-functioning neuroendocrine tumor of pancreas|non-functioning pancreatic endocrine tumor|non-syndromic pancreatic NET|non-functioning endocrine pancreatic tumors|non-functioning well-differentiated neuroendocrine neoplasm of pancreas|non functioning pancreatic endocrine tumor|inactive pancreatic endocrine tumor|nonsyndromic pancreatic endocrine tumor|non-syndromic pancreatic neuroendocrine tumor|non-functioning well differentiated pancreatic endocrine tumor|non-functioning pancreatic neuroendocrine tumor|non-functional pancreatic neuroendocrine tumor|non-functioning well-differentiated NEN of pancreas|non-functioning well-differentiated pancreatic NEN GARD:0004002|Orphanet:506075|UMLS:C1334977|EFO:1000398|ICDO:8150/3|MESH:C536126|DOID:7698|NCIT:C45837 https://rarediseases.info.nih.gov/diseases/4002/non-functioning-pancreatic-endocrine-tumor owl:Class MONDO:0018588 biolink:NamedThing ALECT2 amyloidosis A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands. tmpaxzxjjyw_mondo_relaxed.owl leukocyte chemotactic factor-2 amyloidosis|LECT2 amyloidosis ICD10:E85.8|Orphanet:439224 owl:Class MONDO:0100116 biolink:NamedThing Middle East respiratory syndrome A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome. tmpaxzxjjyw_mondo_relaxed.owl MERS|camel flu UMLS:C3694279|Orphanet:576074|DOID:0080642|NCIT:C128424 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007225 biolink:NamedThing fibular aplasia-ectrodactyly syndrome Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly-ectrodactyly with fibular aplasia or hypoplasia|fibular aplasia ectrodactyly ICD10:Q73.8|MESH:C537930|OMIM:113310|Orphanet:1118|UMLS:C1862100|GARD:0002331 owl:Class MONDO:0020197 biolink:NamedThing EEC syndrome and related syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98609|UMLS:CN207046 Editor note: check this owl:Class UBERON:0016435 biolink:NamedThing chest wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005814 biolink:NamedThing intestinal cancer A malignant neoplasm involving the intestine tmpaxzxjjyw_mondo_relaxed.owl malignant intestinal tumor|intestinal neoplasms, malignant|malignant tumor of the intestine|malignant intestine tumor|malignant intestinal neoplasm|malignant intestinal tumors|malignant neoplasm of the intestine|intestinal tumors, malignant|cancer of intestine|cancer of the intestine|intestinal cancer|malignant tumor of intestine|malignant intestine neoplasm|malignant intestinal neoplasms|bowel cancer|intestine cancer|malignant neoplasm of intestine ICD10:C26.0|MESH:D007414|UMLS:C0346627|SCTID:363508008|EFO:0007330|DOID:10155|NCIT:C4572|ICD9:159.0 owl:Class MONDO:0013666 biolink:NamedThing Stickler syndrome, type 5 Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene. tmpaxzxjjyw_mondo_relaxed.owl STL5|autosomal recessive Stickler syndrome caused by mutation in COL9A2|STICKLER syndrome, type V|COL9A2 autosomal recessive Stickler syndrome Orphanet:250984|UMLS:C3280342|Orphanet:828|OMIM:614284 owl:Class MONDO:0016647 biolink:NamedThing autosomal recessive Stickler syndrome A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss, high myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. Midface hypoplasia, cleft palate, as well as additional skeletal manifestations (such as platyspondyly, scoliosis, and tibial and femoral bowing at birth) have also been observed. tmpaxzxjjyw_mondo_relaxed.owl Stickler syndrome, autosomal recessive UMLS:CN201875|OMIM:614134|OMIM:614284|ICD10:Q87.5|Orphanet:250984 owl:Class MONDO:0001441 biolink:NamedThing pica disease An eating disorder characterized by the persistent eating of nonnutritive substances such as clay or soil; this behavior must be inappropriate to the level of the individual's development. tmpaxzxjjyw_mondo_relaxed.owl Pica|Pica eating disorder SCTID:14077003|DOID:12128|MESH:D010842|NCIT:C92566|ICD9:307.52 owl:Class MONDO:0024429 biolink:NamedThing Alice in Wonderland syndrome A disorienting neuropsychological condition that affects perception. People experience size distortion such as micropsia, macropsia, pelopsia, or teleopsia. Size distortion may occur of other sensory modalities. tmpaxzxjjyw_mondo_relaxed.owl MESH:D062026|NCIT:C116362 owl:Class MONDO:0021084 biolink:NamedThing vision disorder Any impairment to the vision. tmpaxzxjjyw_mondo_relaxed.owl disorder of visual system|visual disorder|disorder of vision|visual Field disorder|vision disorder|visual system disorder SCTID:95677002|UMLS:C0042790|MESH:D014786|NCIT:C35126 owl:Class MONDO:0000948 biolink:NamedThing xerophthalmia Dryness of the eye due to inadequate production of tears. Causes include vitamin A deficiency, Sjogren syndrome, rheumatoid arthritis, systemic lupus erythematosus, and scleroderma. tmpaxzxjjyw_mondo_relaxed.owl conjunctival xerosis ICD10:H04.12|DOID:10138|ICD9:375.15|SCTID:46152009|SCTID:363677007|MESH:D014985|NCIT:C34503|UMLS:C3665609|UMLS:C0043349|ICD10:E50.7 owl:Class MONDO:0006733 biolink:NamedThing dry eye syndrome A syndrome characterized by dryness of the cornea and conjunctiva. It is usually caused by a deficiency in tear production. Symptoms include a feeling of burning eyes and a possible foreign body presence in the eye. tmpaxzxjjyw_mondo_relaxed.owl eye(s), dry|KCS|dry eye|dry eye(s)|sicca, keratoconjunctivitis|tear film insufficiency|keratoconjunctivitis sicca|dry eye syndrome UMLS:C0022575|SCTID:46152009|DOID:12895|MedDRA:10013777|SCTID:302896008|DOID:10140|EFO:1000906|ICD10:H04.12|NCIT:C34553|MESH:D007638|MESH:D015352|ICD9:375.15|EFO:1001001|UMLS:C0013238|MedDRA:100233350 owl:Class HGNC:18455 biolink:NamedThing PROK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019896 biolink:NamedThing Kleefstra syndrome due to 9q34 microdeletion tmpaxzxjjyw_mondo_relaxed.owl 9qSTDS|Kleefstra syndrome due to 9q subtelomeric deletion|9q subtelomeric deletion syndrome|Kleefstra syndrome due to del(9)(q34)|Kleefstra syndrome due to monosomy 9q34 Orphanet:96147|UMLS:C0795833|UMLS:CN206831|ICD10:Q87.8 owl:Class MONDO:0001536 biolink:NamedThing vaginal leiomyoma A benign smooth muscle neoplasm arising from the vagina. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of the vagina|vaginal leiomyoma|leiomyoma of vagina|vagina leiomyoma DOID:125|UMLS:C1336939|NCIT:C6373 owl:Class MONDO:0001572 biolink:NamedThing leiomyoma A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl fibroid tumor|leiomyoma, benign|fibroid|leiomyomatous neoplasm|leiomyomatous neoplasm (morphologic abnormality)|fibroid neoplasm|leiomyomatous tumor|leiomyoma ICD9:215.9|DOID:127|NCIT:C3157|SCTID:146801000119103|ICDO:8890/0|UMLS:C0023267|MESH:D007889 owl:Class UBERON:0003073 biolink:NamedThing lens placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014820 biolink:NamedThing mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene. tmpaxzxjjyw_mondo_relaxed.owl OPA1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)|mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14|MTDPS14|mitochondrial DNA depletion syndrome caused by mutation in OPA1 UMLS:C4225163|DOID:0080336|OMIM:616896 owl:Class FOODON:00002471 biolink:NamedThing prepared seafood product tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001180 biolink:NamedThing prepared food product Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked. tmpaxzxjjyw_mondo_relaxed.owl prepared owl:Class MONDO:0010294 biolink:NamedThing X-linked severe congenital neutropenia This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein. tmpaxzxjjyw_mondo_relaxed.owl Xln|neutropenia, severe congenital, X-linked|SCNX|severe congenital neutropenia X-linked|X-linked severe congenital neutropenia|severe congenital neutropenia, X-linked MESH:C564539|OMIM:300299|GARD:0003981|SCTID:718882006|UMLS:C1845987|Orphanet:86788|ICD10:D70 https://rarediseases.info.nih.gov/diseases/3981/severe-congenital-neutropenia-x-linked owl:Class MONDO:0008237 biolink:NamedThing phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families. tmpaxzxjjyw_mondo_relaxed.owl Stoll-Lévy-Francfort syndrome|phocomelia ectrodactyly deafness sinus arrhythmia|Stoll-levy-Francfort syndrome|phocomelia-ectrodactyly, EAR malformation, deafness, and sinus arrhythmia|Stoll-LC)vy-Francfort syndrome|facioauriculoradial dysplasia OMIM:171480|ICD10:Q87.2|GARD:0004323|UMLS:C1868390|Orphanet:2878|MESH:C537498 owl:Class CHEBI:76967 biolink:NamedThing human xenobiotic metabolite Any human metabolite produced by metabolism of a xenobiotic compound in humans. tmpaxzxjjyw_mondo_relaxed.owl human xenobiotic metabolites owl:Class CHEBI:76206 biolink:NamedThing xenobiotic metabolite Any metabolite produced by metabolism of a xenobiotic compound. tmpaxzxjjyw_mondo_relaxed.owl xenobiotic metabolites owl:Class MONDO:0012046 biolink:NamedThing congenital corneal opacities, cornea guttata, and corectopia tmpaxzxjjyw_mondo_relaxed.owl corneal opacities, congenital, with cornea guttata and corectopia|congenital corneal opacities, cornea guttata, and corectopia MESH:C563921|UMLS:C1837970|OMIM:608484 owl:Class MONDO:0024582 biolink:NamedThing male reproductive system neoplasm A benign, borderline, or malignant neoplasm that affects the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign testicular Sertoli cell tumor, prostatic intraepithelial neoplasia, prostate carcinoma, testicular seminoma, and testicular embryonal carcinoma. tmpaxzxjjyw_mondo_relaxed.owl tumor of Male reproductive system|Male reproductive system neoplasm|male reproductive organ tumor|neoplasm of Male reproductive system|Male reproductive system tumor|tumor of male reproductive organ|tumor of the Male reproductive system|neoplasm of the Male reproductive system|male reproductive organ neoplasm|neoplasm of male reproductive organ ICD9:239.5|NCIT:C3054|SCTID:126895004 owl:Class MONDO:0015759 biolink:NamedThing B-cell non-Hodgkin lymphoma The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003 tmpaxzxjjyw_mondo_relaxed.owl B-cell lymphoma|B-cell non Hodgkin's lymphoma|B-cell non-Hodgkin's lymphoma|B-cell non-Hodgkin lymphoma|non-Hodgkin's B-cell lymphoma|B-cell NHL|non-Hodgkin's lymphoma B-cell|lymphomas non-Hodgkin's B-cell Orphanet:171915|NCIT:C3457 owl:Class NCBITaxon:29120 biolink:NamedThing Oligoryzomys tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:40141 biolink:NamedThing Sigmodontinae tmpaxzxjjyw_mondo_relaxed.owl PMID:15371245|PMID:15019624|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018849 biolink:NamedThing dentinogenesis imperfecta Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic dentinogenesis imperfecta|opalescent teeth without osteogenesis imperfecta|DGI without OI|non-syndromic DGI|DGI|dentinogenesis imperfecta (disease)|DI|opalescent teeth without OI|dentinogenesis imperfecta without osteogenesis imperfecta|dentinogenesis imperfecta dentinogenesis imperfecta (disease) SCTID:196286005|ICD9:520.5|ICD10:K00.5|MESH:D003811|HP:0000703|GARD:0006258|OMIM:125500|UMLS:C0011436|DOID:4154|NCIT:C84667|OMIM:125490|Orphanet:49042|MedDRA:10054013 owl:Class MONDO:0016544 biolink:NamedThing IgG4-related mesenteritis Sclerosing mesenteritis (SM) is a rare pathological disease causing inflammation of the adipose tissue of the small bowel mesentery and is commonly associated with abdominal pain, diarrhea, nausea, weight loss, bloating and loss of appetite. The two subforms include mesenteric panniculitis (where inflammation and fatty necrosis are dominant features) and retractile mesenteritis (where fibrosis and retraction dominate). tmpaxzxjjyw_mondo_relaxed.owl isolated mesenteric lipodystrophy|lipomatous mesenteritis|mesenteric lipogranuloma|liposclerotic mesenteritis|mesenteric panniculitis|sclerosing mesenteritis Orphanet:238593|GARD:0008169|ICD10:K65.8|SCTID:1092381000119100 owl:Class MONDO:0017287 biolink:NamedThing IgG4-related disease A recently described mass-forming lesion that occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. It is characterized by the presence of marked tissue sclerosis and infiltration by numerous plasma cells. The plasma cells show immunohistochemical staining for IgG4 and the serum IgG4 levels are often increased. tmpaxzxjjyw_mondo_relaxed.owl IgG4-RD|systemic IgG4-related plasmacytic syndrome|hyper-IgG4 disease|IgG4-associated disease|multifocal fibrosclerosis|IgG4-syndrome|systemic IgG4-related sclerosing syndrome|IgG4-positive multiorgan lymphoproliferative syndrome|IgG4-related autoimmune disease|multifocal idiopathic fibrosclerosis|Immunoglobulin G4-related sclerosing disease|IgG4-related systemic sclerosing disease|IgG4-related systemic disease|IgG4-related sclerosing disease GARD:0012521|Orphanet:284264|MedDRA:10071569|NCIT:C95992|UMLS:C3203653|Orphanet:596448|DOID:0080356 https://github.com/monarch-initiative/mondo/issues/3539 owl:Class MONDO:0009889 biolink:NamedThing autosomal recessive polycystic kidney disease Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. tmpaxzxjjyw_mondo_relaxed.owl polycystic kidney disease, infantile, type I|AR-PKD|polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile type|ARPKD|polycystic kidney disease, autosomal recessive|PKHD1|autosomal recessive polycystic kidney GARD:0008378|UMLS:C0085548|ICD10:Q61.1|MedDRA:10036047|ICD9:753.14|NCIT:C84579|Orphanet:731|SCTID:28770003|DOID:0110861 owl:Class CL:0002557 biolink:NamedThing fibroblast of pulmonary artery A fibroblast of pulmonary artery. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-02-28T05:22:27Z cell owl:Class ENVO:01001645 biolink:NamedThing gaseous part of an atmosphere That part of an atmosphere which is composed of gaseous material. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001478 biolink:NamedThing gaseous astronomical body part A part of an astronomical body which is primarily composed of a continuous volume of gaseous material, shaped by one or more environmental processes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000863 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. tmpaxzxjjyw_mondo_relaxed.owl myopathy, lactic acidosis and sideroblastic anemia|myopathy, lactic acidosis, and siderblastic anemia|sideroblastic anemia and mitochondrial myopathy|myopathy with lactic acidosis and sideroblastic anemia|MSA|MLASA|mitochondrial myopathy and sideroblastic anemia OMIMPS:600462|OMIM:500011|OMIM:600462|ICD10:G71.3|GARD:0003885|MESH:C536101|SCTID:724138007|OMIM:613561|Orphanet:2598|UMLS:CN220387|DOID:0080099 owl:Class MONDO:0002398 biolink:NamedThing mucinous adenofibroma A benign adenofibroma characterized by the presence of epithelial cells which contain intracytoplasmic mucin and a fibrotic stroma. A representative example is the ovarian mucinous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline mucinous adenofibromas and have a low grade malignant potential. tmpaxzxjjyw_mondo_relaxed.owl mucinous adenofibroma NCIT:C8978|DOID:2700|UMLS:C0334499|ICDO:9015/0 owl:Class MONDO:0017362 biolink:NamedThing neuralgic amyotrophy Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form. tmpaxzxjjyw_mondo_relaxed.owl acute brachial plexus neuritis|neuralgic shoulder amyotrophy|mononeuritis multiplex with brachial predilection|immune brachial plexus neuropathy|brachial plexus neuritis MedDRA:10063020|OMIM:162100|ICD10:G54.5|Orphanet:2901 owl:Class HGNC:13243 biolink:NamedThing LMBR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008645 biolink:NamedThing hexose transmembrane transport The process in which hexose is transported across a membrane. Hexoses are aldoses with a chain of six carbon atoms in the molecule. tmpaxzxjjyw_mondo_relaxed.owl hexose membrane transport|high-affinity hexose transport|hexose transport|low-affinity hexose transport owl:Class GO:0015749 biolink:NamedThing monosaccharide transmembrane transport The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. tmpaxzxjjyw_mondo_relaxed.owl monosaccharide transport owl:Class MONDO:0007403 biolink:NamedThing inherited Creutzfeldt-Jakob disease Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia. tmpaxzxjjyw_mondo_relaxed.owl CJD|Creutzfeldt-Jakob disease, familial|hereditary Creutzfeldt Jacob disease|inherited CJD|Creutzfeldt-Jakob disease, variant|Creutzfeldt-Jakob disease|Creutzfeldt-Jakob disease, sporadic|Creutzfeldt-Jakob disease, Heidenhain variant Orphanet:282166|OMIM:123400|Orphanet:204|SCTID:715807002|ICD10:A81.0|UMLS:CN202816 owl:Class MONDO:0013082 biolink:NamedThing Hirschsprung disease-ganglioneuroblastoma syndrome tmpaxzxjjyw_mondo_relaxed.owl neuroblastoma with Hirschsprung disease|susceptibility to neuroblastoma 2|NBLST2|Hirschsprung disease ganglioneuroblastoma|neuroblastoma, susceptibility to, 2|neuroblastoma, susceptibility to, type 2 UMLS:C2751683|GARD:0002695|Orphanet:635|MESH:C538119|ICD10:Q43.1|OMIM:613013|Orphanet:2151 owl:Class MONDO:0018150 biolink:NamedThing Gaucher disease Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease). tmpaxzxjjyw_mondo_relaxed.owl acid beta-glucosidase deficiency|Gaucher syndrome|glucosylceramidase deficiency|Gaucher disease|cerebroside lipidosis syndrome|Gaucher splenomegaly|glocucerebrosidase deficiency|glucosyl cerebroside lipidosis|lipoid histiocytosis (kerasin type)|Gaucher's disease|sphingolipidosis 1|kerasin thesaurismosis|kerasin lipoidosis|kerasin histiocytosis|glucocerebrosidosis|glucosylceramide beta-glucosidase deficiency|glucocerebrosidase deficiency|acute cerebral Gaucher disease|lipoid histiocytosis OMIM:230800|GARD:0008233|ICD10:E75.22|OMIM:230900|DOID:1926|SCTID:190794006|ICD10:E75.2|MedDRA:10018048|NCIT:C61268|OMIM:231005|MESH:D005776|Orphanet:355|OMIM:608013|OMIM:610539|UMLS:C0017205|OMIM:231000 owl:Class UBERON:0014876 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014887 biolink:NamedThing distal epiphysis of distal phalanx of digit tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011972 biolink:NamedThing medial ligament of ankle joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013378 biolink:NamedThing orofacial cleft 10 Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene. tmpaxzxjjyw_mondo_relaxed.owl orofacial cleft type 10|orofacial cleft 10|orofacial cleft caused by mutation in SUMO1|cleft lip with or without cleft palate, nonsyndromic, 10|OFC10|SUMO1 orofacial cleft OMIM:613705|DOID:0080403|Orphanet:1991|MESH:C566605 owl:Class NCBITaxon:44542 biolink:NamedThing gambiae species complex tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010130 biolink:NamedThing dihydropyrimidine dehydrogenase deficiency Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl hereditary thymine-uraciluria|dihydropyrimidine dehydrogenase deficiency|5-fluorouracil toxicity|DYPD deficiency|Dpyd deficiency|thymine-uracilurea|familial pyrimidinaemia|pyrimidinemia, familial|DPD deficiency|dihydrouracil dehydrogenase deficiency|thymine-Uraciluria, hereditary|familial pyrimidinemia SCTID:77365006|GARD:0000019|OMIM:274270|DOID:14218|MESH:D054067|Orphanet:1675|UMLS:C1959620|ICD9:277.2|MedDRA:10052622|ICD10:E79.8|NCIT:C84672 https://rarediseases.info.nih.gov/diseases/19/dihydropyrimidine-dehydrogenase-deficiency owl:Class MONDO:0007621 biolink:NamedThing floating-Harbor syndrome Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. tmpaxzxjjyw_mondo_relaxed.owl Pelletier-Leisti syndrome|FHS|floating-Harbor syndrome|short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes|FLHS|floating-HARBOR syndrome ICD10:Q87.8|DOID:0111358|MESH:C537062|OMIM:136140|ICD9:759.89|GARD:0006455|Orphanet:2044|SCTID:312214005|UMLS:C0729582 https://rarediseases.info.nih.gov/diseases/6455/floating-harbor-syndrome owl:Class UBERON:0004219 biolink:NamedThing urethra smooth muscle layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21580 biolink:NamedThing KIAA0319 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003929 biolink:NamedThing digestive tract epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021380 biolink:NamedThing neoplasm of myocardium A neoplasm (disease) that involves the myocardium. tmpaxzxjjyw_mondo_relaxed.owl myocardial tumor|tumor of the myocardium|myocardium neoplasm (disease)|neoplasm of the myocardium|myocardium tumor|myocardial neoplasm|neoplasm of myocardium|tumor of myocardium|myocardium neoplasm UMLS:C1290402|SCTID:126732009|ICD9:239.89|NCIT:C5349 owl:Class UBERON:0006440 biolink:NamedThing os clitoris tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009793 biolink:NamedThing orofaciodigital syndrome III Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl oral-Facial-digital syndrome, type 3|orofaciodigital syndrome III|Sugarman syndrome|orofaciodigital syndrome type III|orofaciodigital syndrome 3|oral facial digital syndrome type 3|Ofds 3|OFD3|OFD syndrome 3|orofaciodigital syndrome type 3|oral facial digital syndrome 3|oral-facial-digital syndrome type 3 DOID:0060373|MESH:C557817|OMIM:258850|Orphanet:2752|ICD10:Q87.0|SCTID:239030004|GARD:0010518 https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3 owl:Class GO:0033120 biolink:NamedThing positive regulation of RNA splicing Any process that activates or increases the frequency, rate or extent of RNA splicing. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011154 biolink:NamedThing acrofacial dysostosis, Palagonia type Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. tmpaxzxjjyw_mondo_relaxed.owl acrofacial dysostosis Palagonia type|acrofacial dysostosis, Palagonia type|Palagonia type of acrofacial dysostosis|AFD- Palagonia type|acrofacial dysostosis, Patagonia type|PAFD|Palagonia form of AFD Orphanet:1787|UMLS:C1866168|OMIM:601829|DOID:0060385|GARD:0000499|ICD10:Q75.4|MESH:C538185|SCTID:720429007 owl:Class ENVO:01000815 biolink:NamedThing liquid environmental material An environmental material which is in a liquid state. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:02000140 biolink:NamedThing fluid environmental material A liquid or a gas. tmpaxzxjjyw_mondo_relaxed.owl fluid owl:Class MONDO:0005484 biolink:NamedThing colorectal adenoma An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis. tmpaxzxjjyw_mondo_relaxed.owl adenoma of the large intestine|adenoma of large bowel|colorectum adenoma|colorectal adenoma|large intestine adenoma|large bowel adenoma|adenoma of large intestine|adenoma of the large bowel EFO:0005406|NCIT:C5673|DOID:0050860|UMLS:C1302401|DOID:0050914|SCTID:399432003 MONDO:0000529 owl:Class HGNC:28625 biolink:NamedThing NDUFAF6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005700 biolink:NamedThing chickenpox A contagious childhood disorder caused by the varicella zoster virus. It is transmitted via respiratory secretions and contact with chickenpox blister contents. It presents with a vesicular skin rash, usually associated with fever, headache, and myalgias. The pruritic fluid-filled vesicles occur 10-21 days after exposure and last for 3-4 days. An additional 3-4 days of malaise follows before the affected individual feels better. An individual is contagious 1-2 days prior to the appearance of the blisters until all blisters are crusted over. Generally, healthy individuals recover without complications. tmpaxzxjjyw_mondo_relaxed.owl chicken pox|varicella|chickenpox|Varicella|chicken pox infection ICD9:052.9|ICD9:052|NCIT:C97132|ICD10:B01.9|EFO:0007204|UMLS:C0008049|MESH:D002644|SCTID:38907003|DOID:8659|ICD10:B01 owl:Class MONDO:0004522 biolink:NamedThing peritonitis Inflammation of the peritoneum due to infection by bacteria or fungi. Causes include liver disease, perforation of the gastrointestinal tract or biliary tract, and peritoneal dialysis. Patients usually present with abdominal pain and tenderness, fever, chills, and nausea and vomiting. It is an emergency medical condition that requires prompt medical attention and treatment. tmpaxzxjjyw_mondo_relaxed.owl acute generalized peritonitis|primary bacterial peritonitis|inflammation of peritoneum|retractile mesenteritis|peritoneum inflammation SCTID:86422009|EFO:0008588|DOID:8283|ICD9:567.82|ICD9:567.8|ICD9:567.89|NCIT:C26849 owl:Class CL:0000228 biolink:NamedThing multinucleate cell A cell with more than one nucleus. tmpaxzxjjyw_mondo_relaxed.owl syncytial cell|syncytium|syncitium WBbt:0008074|AEO:0000203 cell owl:Class UBERON:0013231 biolink:NamedThing sebaceous gland of eyelid tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003484 biolink:NamedThing eye sebaceous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014791 biolink:NamedThing Luscan-Lumish syndrome tmpaxzxjjyw_mondo_relaxed.owl LLs|Luscan-Lumish syndrome; LLs|Luscan-Lumish syndrome OMIM:616831|UMLS:C4085873 owl:Class MONDO:0013964 biolink:NamedThing Diamond-Blackfan anemia 11 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene. tmpaxzxjjyw_mondo_relaxed.owl Diamond-Blackfan anemia caused by mutation in RPL26|DBA11|Diamond-Blackfan anemia 11|Diamond-Blackfan Anemia type 11|RPL26 Diamond-Blackfan anemia UMLS:C3554042|OMIM:614900 owl:Class MONDO:0042980 biolink:NamedThing Westphal disease tmpaxzxjjyw_mondo_relaxed.owl Westphal disease|HD- Westphal variant|Westphal variant of Huntington's disease GTR:AN0099343|MEDGEN:224821|MESH:C536694|UMLS:C1279186|GTR:AN0099345|SCTID:182747006|GARD:0005557|GTR:AN0099344 owl:Class MONDO:0000995 biolink:NamedThing familial periodic paralysis A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally. tmpaxzxjjyw_mondo_relaxed.owl genetic periodic paralysis|hereditary periodic paralysis (disease)|familial periodic paralyses|paralyses, normokalemic periodic|periodic paralyses, normokalemic|periodic paralyses, familial|normokalemic periodic paralysis|paralysis, familial periodic|familial periodic paralysis|periodic paralysis, normokalemic|paralysis, normokalemic periodic|periodic paralysis, familial|normokalemic periodic paralyses SCTID:267607008|GARD:0006422|Orphanet:371433|ICD10:G72.3|NCIT:C84709|DOID:1029|MESH:D010245 https://rarediseases.info.nih.gov/diseases/6422/familial-periodic-paralysis owl:Class MONDO:0020848 biolink:NamedThing osteopetrosis, autosomal dominant 3 tmpaxzxjjyw_mondo_relaxed.owl OSTEOPETROSIS, autosomal dominant 3|OPTA3 OMIM:618107 owl:Class MONDO:0043224 biolink:NamedThing multi-infarct dementia A common form of dementia caused by multiple cortical or subcortical cerebral infarctions. tmpaxzxjjyw_mondo_relaxed.owl Binswanger's disease|Multiinfarct Dementias|Dementias, Multiinfarct|Dementias, lacunar|multi-infarct Dementias|dementia, multi infarct|dementia, lacunar|Binswanger disease|lacunar dementia|dementia multi-infarct|multi-infarct dementia|dementia multi infarct|arteriosclerotic dementia|multi-infarct, dementia|multi infarct dementia|multi-infarcts, dementia|Dementias, multi-infarct|lacunar Dementias|dementia multi-infarcts|dementia, Multiinfarct|Multiinfarct dementia MESH:D015161|SCTID:56267009|NCIT:C34522|GARD:0005925 owl:Class NCBITaxon:83137 biolink:NamedThing Sarcoptiformes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6946 biolink:NamedThing Acariformes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010149 biolink:NamedThing transcobalamin II deficiency Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia. tmpaxzxjjyw_mondo_relaxed.owl inherited deficiency of transcobalamin|transcobalamin II deficiency|transcobalamin 2 deficiency|Tcn2 deficiency|TCN2 deficiency|transcobalamin deficiency|TC 2 deficiency ICD10:D51.2|OMIM:275350|DOID:0050818|NCIT:C142806|Orphanet:859|UMLS:C0342701|SCTID:237934001|GARD:0012338 owl:Class MONDO:0019220 biolink:NamedThing inborn disorder of cobalamin metabolism and transport tmpaxzxjjyw_mondo_relaxed.owl inborn disorder of cobalamin metabolism and transport|disorder of cobalamin metabolism and transport UMLS:CN043592|UMLS:CN227587|Orphanet:79171 owl:Class MONDO:0011076 biolink:NamedThing myofibrillar myopathy 1 Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, with conduction defect and muscular dystrophy|arrhythmogenic right ventricular dysplasia, familial, 7, formerly|DES myofibrillar myopathy (disease)|myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy|myofibrillar myopathy 1|inclusion body myopathy 1, autosomal dominant|arrhythmogenic right ventricular cardiomyopathy 7, formerly|myopathy, myofibrillar, type 1|arrhythmogenic right ventricular dysplasia, familial, 7|MFM1|CMD1F and LGMD1D, formerly|desminopathy, primary|arrhythmogenic right ventricular cardiomyopathy 7|myofibrillar myopathy type 1|IBM1|cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D, formerly|CMD1F and LGMD1D|myopathy, myofibrillar, desmin-related|myofibrillar myopathy (disease) caused by mutation in DES|inclusion body myopathy 1, autosomal dominant, formerly|myopathy, myofibrillar, 1|cardiomyopathy, dilated, 1F and limb-girdle muscular dystrophy type 1D|desmin-related myopathy with arrhythmogenic right ventricular cardiomyopathy|desmin-related myofibrillar myopathy|desminopathy|desmin-related myopathy UMLS:C1832370|ICD10:G71.8|Orphanet:98909|DOID:0080092|OMIM:601419 owl:Class CHEBI:50329 biolink:NamedThing 2-carboxyethyl group tmpaxzxjjyw_mondo_relaxed.owl glutamic acid side-chain|2-carboxyethyl owl:Class MONDO:0022639 biolink:NamedThing Cantu sanchez-corona Garcia-Cruz syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001082 https://rarediseases.info.nih.gov/diseases/1082/cantu-sanchez-corona-garcia-cruz-syndrome owl:Class MONDO:0022908 biolink:NamedThing cutis gyratum acanthosis nigricans craniosynostosis tmpaxzxjjyw_mondo_relaxed.owl GARD:0001635 https://rarediseases.info.nih.gov/diseases/1635/cutis-gyratum-acanthosis-nigricans-craniosynostosis owl:Class OBO:CHR_9606-chr16p12.2-p11.2 biolink:NamedThing 16p12.2-p11.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0017108 biolink:NamedThing isolated total cerebellar vermis agenesis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:269206|ICD10:Q04.3 owl:Class MONDO:0017107 biolink:NamedThing isolated cerebellar vermis agenesis tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q04.3|Orphanet:269203 owl:Class MONDO:0013569 biolink:NamedThing short-rib thoracic dysplasia 7 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. tmpaxzxjjyw_mondo_relaxed.owl short rib-polydactyly syndrome, type 5|short rib-polydactyly syndrom type V|SRPS5|short rib-polydactyly syndrome type 5|SRTD7|short-rib thoracic dysplasia 7 with or without polydactyly DOID:0110090|UMLS:C3279792|Orphanet:93271|Orphanet:498497|ICD10:Q77.2|OMIM:614091 owl:Class MONDO:0014496 biolink:NamedThing mitochondrial complex III deficiency nuclear type 9 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial complex III deficiency, nuclear type 9|mitochondrial Complex 3 deficiency, nuclear type 9|UQCC3 mitochondrial complex III deficiency|mitochondrial complex III deficiency caused by mutation in UQCC3|MC3DN9 DOID:0080118|Orphanet:1460|OMIM:616111|UMLS:C4015253 owl:Class MONDO:0012813 biolink:NamedThing retinitis pigmentosa 29 A retinitis pigmentosa that has material basis in variation in the chromosome region 4q32-q34. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 29|RP 29|retinitis pigmentosa type 29|RP29 MESH:C567403|UMLS:C2677325|OMIM:612165|ICD10:H35.5|Orphanet:791|DOID:0110378|GARD:0010378 https://rarediseases.info.nih.gov/diseases/10378/retinitis-pigmentosa-29 owl:Class MONDO:0012972 biolink:NamedThing febrile seizures, familial, 10 tmpaxzxjjyw_mondo_relaxed.owl FEB10|convulsions, familial febrile, 10|febrile seizures, familial, 10 UMLS:C2675251|OMIM:612637|DOID:0111304|MESH:C567218 owl:Class MONDO:0008953 biolink:NamedThing peroxisome biogenesis disorder 1A (Zellweger) tmpaxzxjjyw_mondo_relaxed.owl Zs|peroxisome biogenesis disorder, complementation group E|peroxisome biogenesis disorder 1A (Zellweger)|peroxisome biogenesis disorder, complementation group 1|Cerebrohepatorenal syndrome|PBD1A Orphanet:912|OMIM:214100|DOID:0080476|UMLS:C0043459 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0009899 biolink:NamedThing polyhydramnios, chronic idiopathic tmpaxzxjjyw_mondo_relaxed.owl Lactogen receptor defect of chorion|polyhydramnios, chronic idiopathic MESH:C564876|UMLS:C1849720|OMIM:263610 owl:Class MONDO:0011766 biolink:NamedThing 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome tmpaxzxjjyw_mondo_relaxed.owl 46,XY gonadal dysgenesis, partial, with MINIFASCICULAR neuropathy OMIM:607080|UMLS:C2751325|MESH:C567773|ICD10:Q56.1|Orphanet:168563 owl:Class MONDO:0000989 biolink:NamedThing mumps infectious disease A contagious viral infection caused by the mumps virus. Symptoms include swollen and tender parotid glands, fever, muscle aches and fatigue. Due to vaccination programs, mumps has become a rare disease. tmpaxzxjjyw_mondo_relaxed.owl mumps virus infectious disease|Mumps virus disease or disorder|Mumps virus caused disease or disorder|Mumps virus infectious disease|epidemic parotitis|mumps ICD9:072|ICD10:B26.9|UMLS:C0026780|MESH:D009107|GARD:0007116|MESH:D019351|EFO:0007383|SCTID:36989005|ICD10:B26|NCIT:C29888|DOID:10264 MONDO:0005863 https://rarediseases.info.nih.gov/diseases/7116/mumps owl:Class MONDO:0007375 biolink:NamedThing epithelial basement membrane dystrophy tmpaxzxjjyw_mondo_relaxed.owl Map-dot-fingerprint dystrophy of cornea|corneal dystrophy, anterior basement Membrane|microcystic corneal dystrophy|microcystic dystrophy of the cornea|Cogan corneal dystrophy|Map-dot-fingerprint dystrophy|corneal dystrophy, epithelial basement MEMBRANE|anterior basement membrane dystrophy|Cogan microcystic epithelial dystrophy|epithelial basement membrane corneal dystrophy|corneal dystrophy, Map-Dot-Fingerprint type|EBMD|corneal dystrophy, microcystic OMIM:121820|ICD10:H18.5|Orphanet:98956|MESH:C535477|DOID:0060447|GARD:0009732|SCTID:373426005 owl:Class UBERON:0000332 biolink:NamedThing yellow bone marrow tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002371 biolink:NamedThing bone marrow tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000200 biolink:NamedThing Zimmermann-Laband syndrome Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet. tmpaxzxjjyw_mondo_relaxed.owl ZLS1|Laband syndrome|Zimmermann-Laband syndrome 1|Zimmerman Laband syndrome|ZLS|Laband-Zimmermann syndrome|gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly|fibromatosis gingival, hepatosplenomegaly other anomalies|Zimmermann-Laband syndrome type 1|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome OMIM:616455|ICD10:Q87.8|SCTID:699447001|MESH:C536725|OMIMPS:135500|UMLS:C0796013|OMIM:135500|GARD:0000385|Orphanet:3473|ICD9:759.89 owl:Class GO:1901318 biolink:NamedThing negative regulation of flagellated sperm motility Any process that stops, prevents or reduces the frequency, rate or extent of flagellated sperm motility. tmpaxzxjjyw_mondo_relaxed.owl down regulation of sperm movement|inhibition of sperm movement|down-regulation of sperm movement|down-regulation of sperm motility|negative regulation of sperm movement|negative regulation of sperm motility|inhibition of sperm motility|down regulation of sperm motility|downregulation of sperm motility|downregulation of sperm movement owl:Class MONDO:0013965 biolink:NamedThing lethal congenital contracture syndrome 4 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene. tmpaxzxjjyw_mondo_relaxed.owl MYBPC1 lethal congenital contracture syndrome|LCCS4|lethal congenital contracture syndrome 4|lethal congenital contracture syndrome type 4|lethal congenital contracture syndrome caused by mutation in MYBPC1 OMIM:614915|Orphanet:137783|GARD:0012645|UMLS:C3554046|DOID:0060654 https://rarediseases.info.nih.gov/diseases/12645/lethal-congenital-contracture-syndrome-4 owl:Class MONDO:0011845 biolink:NamedThing migraine with or without aura, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl MGR3|migraine with or without aura, susceptibility to, 3|migraine with or without aura, susceptibility to, type 3 OMIM:607498 owl:Class MONDO:0000110 biolink:NamedThing bifid nose Bifid nose is a rare congenital malformation of presumed autosomal dominant or recessive inheritance characterized by clefting of the nose ranging from a minimally noticeable groove in the columella to complete clefting of the underlying bones and cartilage (resulting in two half noses) with a usually adequate airway. Bifid nose may be seen in frontonasal dysplasia while other malformations such as hypertelorbitism and midline clefts of the lip may also be associated. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:2695|OMIM:210400|GARD:0000884|OMIM:109740|MESH:C535441|ICD10:Q30.2|UMLS:CN227089 owl:Class MONDO:0015219 biolink:NamedThing non-syndromic central nervous system malformation A central nervous system malformation that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl isolated central nervous system malformation|nonsyndromic central nervous system malformation Orphanet:108989 Editor note: ORDO has various potentially syndromic disease groupings under here, we modify these. See https://github.com/monarch-initiative/mondo-build/issues/58 owl:Class UBERON:0001633 biolink:NamedThing basilar artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr13q14 biolink:NamedThing 13q14 (Human) tmpaxzxjjyw_mondo_relaxed.owl 54700000 39500000 hg38 owl:Class HP:0012503 biolink:NamedThing Abnormality of the pituitary gland An anomaly of the pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl disorder of pituitary gland MSH:D010900|UMLS:C0032002|SNOMEDCT_US:399244003 peter 2013-11-30T09:34:21Z human_phenotype owl:Class HP:0012443 biolink:NamedThing Abnormality of brain morphology A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the brain|Abnormal shape of brain UMLS:C4021085 peter 2013-11-23T02:38:00Z human_phenotype owl:Class MONDO:0008075 biolink:NamedThing neurofibromatosis type 3 Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium. tmpaxzxjjyw_mondo_relaxed.owl Neurinomatosis|schwannomatosis|neurilemmomatosis|neurilemmomatosis, congenital cutaneous|Schwannomatosis|NF3|congenital cutaneous neurilemmomatosis|neurilemmomatosis congenital cutaneous|neurinoma NCIT:C6557|OMIM:162260|OMIM:162091|ICD10:Q85.03|ICDO:9560/1|OMIMPS:162091|UMLS:C1335929|ICD9:237.73|OMIM:615670|GARD:0004768|DOID:3204|ICD10:Q85.0|Orphanet:93921 owl:Class MONDO:0011500 biolink:NamedThing Becker nevus syndrome Becker nevus syndrome is characterized by the presence of a Becker nevus in association withunderdevelopment (hypoplasia)of the breast or other skin-related, muscular, or skeletal defects, all of which usually involve the same side of the bodyas the nevus (ipsilateral). Specific signs and symptoms in addition to the nevus may include ipsilateral breast hypoplasia;skeletal abnormalities such ashypoplasia of the shoulder girdle, scoliosis, fused ribs, and ipsilateral shortness of the arm; and several other features. Thecondition is thought to be sporadic (occurring in individuals with no history of the condition in the family). Treatment varies depending upon the specific symptoms present and the extent of the condition in the affected individual. tmpaxzxjjyw_mondo_relaxed.owl hairy epidermal nevus syndrome|Becker nevus syndrome|pigmentary hairy epidermal nevus UMLS:C0263579|OMIM:604919|GARD:0003856|MESH:C565735|UMLS:C1858042|Orphanet:64755|ICD10:D22.5 https://rarediseases.info.nih.gov/diseases/3856/becker-nevus-syndrome owl:Class MONDO:0016881 biolink:NamedThing partial deletion of chromosome 19 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 19|partial deletion of chromosome type 19 Orphanet:261841|ICD10:Q93.5 owl:Class MONDO:0001418 biolink:NamedThing trachea sarcoma A rare malignant soft tissue neoplasm that arises from the trachea. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of trachea|trachea sarcoma|tracheal sarcoma|sarcoma of the trachea DOID:12002|NCIT:C6050|UMLS:C1336774 owl:Class HGNC:8549 biolink:NamedThing BLOC1S6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:132153 biolink:NamedThing hyaluronate A carbohydrate acid derivative anion obtained by deprotonation of the carboxy groups of hyaluronic acid; major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl hyaluronan|hyaluronate polyanion owl:Class CHEBI:61469 biolink:NamedThing polyanionic polymer A polymer, composed of polyanion macromolecules. tmpaxzxjjyw_mondo_relaxed.owl polyanion|polyanions owl:Class CL:0000103 biolink:NamedThing bipolar neuron A type of interneuron that has two neurites, usually an axon and a dendrite, extending from opposite poles of an ovoid cell body. tmpaxzxjjyw_mondo_relaxed.owl FMA:67282 cell owl:Class CL:0000099 biolink:NamedThing interneuron Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions. tmpaxzxjjyw_mondo_relaxed.owl BTO:0003811|FMA:67313|WBbt:0005113|FBbt:00005125 cell owl:Class MONDO:0000721 biolink:NamedThing xanthinuria A metabolic metabolic disorder characterized by excess urinary excretion of the purine base xanthine. tmpaxzxjjyw_mondo_relaxed.owl SCTID:190919008|ICD9:277.2 owl:Class MONDO:0013763 biolink:NamedThing Joubert syndrome 15 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome 12/15, digenic|Joubert syndrome 15|Joubert syndrome 9/15, digenic|Joubert syndrome type 15|CEP41 Joubert syndrome|JBTS15|Joubert syndrome caused by mutation in CEP41 DOID:0110984|UMLS:C3280897|Orphanet:220493|OMIM:614464|Orphanet:475 owl:Class MONDO:0016364 biolink:NamedThing Joubert syndrome with ocular defect Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy. tmpaxzxjjyw_mondo_relaxed.owl JBTS3|Joubert syndrome with ocular anomalies|Joubert syndrome 3|JS-O|Joubert syndrome with retinopathy SCTID:716998009|OMIM:614424|GARD:0010168|OMIM:614464|ICD10:Q04.3|UMLS:CN201217|OMIM:614970|ICD10:H35.5|OMIM:608629|UMLS:C4274118|UMLS:C1837713|OMIM:617121|Orphanet:220493 https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-anomalies owl:Class MONDO:0012513 biolink:NamedThing maturity-onset diabetes of the young type 7 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the KLF11 gene. tmpaxzxjjyw_mondo_relaxed.owl MODY KLF11 related|diabetes mellitus MODY type 7|KLF11 maturity-onset diabetes of the young (disease)|type 7 maturity-onset diabetes of the young|MODY type 7|maturity-onset diabetes of the young (disease) caused by mutation in KLF11|MODY7|maturity-onset diabetes of the young, type 7 DOID:0111106|SCTID:609574004|OMIM:610508|Orphanet:552|GARD:0010661|MESH:C566466|UMLS:C1864839 https://rarediseases.info.nih.gov/diseases/10661/maturity-onset-diabetes-of-the-young-type-7 owl:Class MONDO:0010684 biolink:NamedThing X-linked myopathy with excessive autophagy X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings. tmpaxzxjjyw_mondo_relaxed.owl XMEA|MEAX|vacuolar myopathy|myopathy, X-linked, with excessive autophagy UMLS:C1839615|SCTID:719815005|Orphanet:25980|ICD10:G71.8|MESH:C536522|GARD:0003892|DOID:0050760|UMLS:C2931230|OMIM:310440 https://rarediseases.info.nih.gov/diseases/3892/x-linked-myopathy-with-excessive-autophagy owl:Class MONDO:0014204 biolink:NamedThing basal ganglia calcification, idiopathic, 5 tmpaxzxjjyw_mondo_relaxed.owl IBGC5|basal ganglia calcification, idiopathic, type 5|basal ganglia calcification, idiopathic, 5 OMIM:615483|Orphanet:1980|UMLS:C3809645 owl:Class HP:0009797 biolink:NamedThing Cholesteatoma Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:363668000|MSH:D002781|UMLS:C0008373|SNOMEDCT_US:575006 peter 2009-02-11T05:20:04Z human_phenotype owl:Class MONDO:0030843 biolink:NamedThing mismatch repair cancer syndrome 4 tmpaxzxjjyw_mondo_relaxed.owl mismatch repair cancer syndrome 4|MMRCS4 OMIM:619101 owl:Class MONDO:0016658 biolink:NamedThing 8p23.1 microdeletion syndrome 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects. tmpaxzxjjyw_mondo_relaxed.owl monosomy 8p23.1|deletion 8p23.1|Del(8)(p23.1)|chromosome 8p23.1 deletion|8p23.1 deletion ICD10:Q93.5|SCTID:716381003|MESH:C537827|Orphanet:251071|UMLS:CN201888|GARD:0003769 owl:Class HGNC:11521 biolink:NamedThing TAC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004189 biolink:NamedThing glomerular endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904690 biolink:NamedThing positive regulation of cytoplasmic translational initiation Any process that activates or increases the frequency, rate or extent of cytoplasmic translational initiation. tmpaxzxjjyw_mondo_relaxed.owl upregulation of cytoplasmic translational initiation|activation of cytoplasmic translational initiation|up-regulation of cytoplasmic translational initiation|up regulation of cytoplasmic translational initiation owl:Class GO:1904688 biolink:NamedThing regulation of cytoplasmic translational initiation Any process that modulates the frequency, rate or extent of cytoplasmic translational initiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001473 biolink:NamedThing medulloadrenal hyperfunction tmpaxzxjjyw_mondo_relaxed.owl DOID:12257|ICD10:E27.5|SCTID:111565003|UMLS:C0154206|ICD9:255.6 owl:Class MONDO:0021839 biolink:NamedThing spirochaetales infections Infections with bacteria of the order SPIROCHAETALES. tmpaxzxjjyw_mondo_relaxed.owl INFECT SPIROCHAETALES|Infections, Spirochete|SPIROCHAETALES INFECT|Infection, Spirochaetales|SPIROCHETE INFECT|Spirochete Infections|INFECT SPIROCHETE|Spirochetal infection|Spirochete Infection|Spirochaetales Infection|Infection, Spirochete|Infections, Spirochaetales|Spirochetosis|Spirochaetales Infections GARD:0007682|UMLS:C0037974|MESH:D013145 owl:Class MONDO:0008877 biolink:NamedThing blue diaper syndrome Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria. tmpaxzxjjyw_mondo_relaxed.owl blue diaper syndrome|Drummond syndrome|familial hypercalcemia-nephrocalcinosis-indicanuria syndrome|hypercalcemia, familial, with nephrocalcinosis and indicanuria UMLS:C0268478|OMIM:211000|GARD:0005939|ICD10:E70.8|Orphanet:94086|SCTID:59531002|MESH:C536239 https://rarediseases.info.nih.gov/diseases/5939/blue-diaper-syndrome owl:Class MONDO:0004158 biolink:NamedThing pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma A cystic epithelial neoplasm characterized by the presence of columnar mucin-producing epithelial cells, ovarian-type stroma formation, and a focal or extensive invasive carcinomatous component. tmpaxzxjjyw_mondo_relaxed.owl pancreatic mucinous cystic neoplasm with an associated invasive carcinoma|pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma|pancreatic invasive mucinous cystadenocarcinoma NCIT:C41246|ICDO:8470/3|DOID:7236|UMLS:C1518870 owl:Class UBERON:0003830 biolink:NamedThing thoracic segment muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0040923 biolink:NamedThing late latent syphilis Latent syphilis when infection was acquired more than twelve months previously. tmpaxzxjjyw_mondo_relaxed.owl late latent syphilis UMLS:C1260915|SCTID:186903006|NCIT:C128371 owl:Class MONDO:0005822 biolink:NamedThing latent syphilis A stage of syphilis characterized by the serologic evidence of infection by Treponema pallidum without evidence of accompanying signs or symptoms related to the disease. tmpaxzxjjyw_mondo_relaxed.owl ICD10:A53.0|SCTID:444150000|MESH:D013592|EFO:0007340|NCIT:C35056|ICD9:097.1|UMLS:C0039133|DOID:9531 owl:Class MONDO:0001416 biolink:NamedThing female reproductive organ cancer A primary or metastatic malignant neoplasm involving the female reproductive system. Representative examples include endometrial carcinoma, cervical carcinoma, ovarian carcinoma, uterine corpus leiomyosarcoma, adenosarcoma, malignant mixed mesodermal (mullerian) tumor, and gestational choriocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of female reproductive system|malignant female reproductive organ neoplasm|malignant neoplasm of female reproductive organ|malignant neoplasm of the female reproductive system|malignant neoplasm of female genital organ|malignant neoplasm of female reproductive system|malignant female reproductive system neoplasm|malignant gynecologic neoplasm|female reproductive cancer|gynecologic cancer|female reproductive organ cancer|malignant gynecologic tumor|malignant female reproductive system tumor|malignant tumor of the female reproductive system|cancer of female reproductive organ ICD10:C51.C58|ICD9:184|NCIT:C4913|ICD10:C57|SCTID:126907002|DOID:120|NCIT:C3053 owl:Class GO:0051149 biolink:NamedThing positive regulation of muscle cell differentiation Any process that activates or increases the frequency, rate or extent of muscle cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl activation of muscle cell differentiation|up-regulation of muscle cell differentiation|stimulation of muscle cell differentiation|up regulation of muscle cell differentiation|upregulation of muscle cell differentiation owl:Class MONDO:0014569 biolink:NamedThing lethal congenital contracture syndrome 7 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene. tmpaxzxjjyw_mondo_relaxed.owl CNTNAP1 lethal congenital contracture syndrome|lethal congenital contracture syndrome type 7|lethal congenital contracture syndrome 7|LCCS7|lethal congenital contracture syndrome caused by mutation in CNTNAP1 UMLS:C4225386|OMIM:616286|Orphanet:2680 owl:Class GO:0004566 biolink:NamedThing beta-glucuronidase activity Catalysis of the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate. tmpaxzxjjyw_mondo_relaxed.owl beta-D-glucuronoside glucuronosohydrolase activity|beta-glucuronide glucuronohydrolase activity|ketodase activity|glucuronidase activity|exo-beta-D-glucuronidase activity owl:Class HGNC:29021 biolink:NamedThing CEP290 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011837 biolink:NamedThing vitamin K-dependent clotting factors, combined deficiency of, type 2 Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene. tmpaxzxjjyw_mondo_relaxed.owl vitamin K-dependent clotting factors, combined deficiency of, type 2|VKCFD2|congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1|VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency|vitamin K-dependent clotting factors, combined deficiency of, 2 UMLS:C1843832|MESH:C564393|OMIM:607473 owl:Class MONDO:0015722 biolink:NamedThing congenital vitamin K-dependent coagulation factors deficiency Congenital vitamin K-dependent coagulation factors deficiency involving multiple coagulation factors. tmpaxzxjjyw_mondo_relaxed.owl vitamin K-dependent clotting factors, combined deficiency of|congenital vitamin K-dependent coagulation factors combined deficiency Orphanet:169826|ICD10:D68.2|OMIMPS:277450|Orphanet:98434 owl:Class GO:0019230 biolink:NamedThing proprioception The series of events by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception is mediated by proprioceptors, sensory nerve terminals found in muscles, tendons, and joint capsules, which give information concerning movements and position of the body. The receptors in the labyrinth are sometimes also considered proprioceptors. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006496 biolink:NamedThing palsy A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45) tmpaxzxjjyw_mondo_relaxed.owl Plegias|Plegia MESH:D010243|EFO:1000631|Wikipedia:Palsy owl:Class MONDO:0006153 biolink:NamedThing colon juvenile polyp A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. tmpaxzxjjyw_mondo_relaxed.owl retention polyp of the colon|colonic juvenile polyp|juvenile polyp of colon|juvenile polyp of the colon|colonic retention polyp|retention polyp of colon|colon retention polyp NCIT:C5518|UMLS:C1333090|EFO:1000185 owl:Class MONDO:0009479 biolink:NamedThing Johanson-Blizzard syndrome A multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl JBS|Johanson-Blizzard syndrome|nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness|Johanson-BLIZZARD syndrome|pancreatic insufficiency, combined exocrine|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness EFO:0001063|OMIM:243800|UMLS:C1850081|ICD9:759.89|MESH:C535880|DOID:14694|GARD:0000080|OMIM:260450|ICD10:Q87.8|UMLS:C0175692|MESH:C564907|SCTID:75979009|Orphanet:2315 owl:Class HGNC:7460 biolink:NamedThing MT-ND4L tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000276 biolink:NamedThing ecoregion A large unit of land or water containing a geographically distinct assemblage of species, natural communities, and environmental conditions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013999 biolink:NamedThing optic nerve edema-splenomegaly syndrome Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. tmpaxzxjjyw_mondo_relaxed.owl splenomegaly, cytopenia, and vision loss Orphanet:313800|OMIM:614979|UMLS:C3554278 owl:Class CHEBI:58953 biolink:NamedThing saturated fatty acid anion Any fatty acid anion in which there is no C-C unsaturation. tmpaxzxjjyw_mondo_relaxed.owl saturated fatty acid anions owl:Class CHEBI:28868 biolink:NamedThing fatty acid anion The conjugate base of a fatty acid, arising from deprotonation of the carboxylic acid group of the corresponding fatty acid. tmpaxzxjjyw_mondo_relaxed.owl acido graso anionico|Fatty acid anion|a fatty acid|Fettsaeureanionen|acidos grasos anionicos|fatty acid anions|Alkanate|anion de l'acide gras|Fettsaeureanion owl:Class UBERON:0002019 biolink:NamedThing accessory XI nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001073 biolink:NamedThing ileocecal junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030941 biolink:NamedThing erythrokeratodermia variabilis et progressiva 7 tmpaxzxjjyw_mondo_relaxed.owl erythrokeratodermia variabilis et progressiva 7|EKVP7 OMIM:619209 owl:Class OBO:CHR_9606-chr2q37 biolink:NamedThing 2q37 (Human) tmpaxzxjjyw_mondo_relaxed.owl 242193529 230100000 hg38 owl:Class MONDO:0023628 biolink:NamedThing levator syndrome Levator syndrome is characterized by sporadic pain in the rectum caused by spasm of a muscle near the anus (the levator ani muscle). The muscle spasm causes pain that typically is not related to defecation. The pain usually lasts less than 20 minutes. Pain may be brief and intense or a vague ache high in the rectum. It may occur spontaneously or with sitting and can waken a person from sleep. The pain may feel as if it would be relieved by the passage of gas or a bowel movement. In severe cases, the pain can persist for many hours and can recur frequently. A person may have undergone various unsuccessful rectal operations to relieve these symptoms. tmpaxzxjjyw_mondo_relaxed.owl painful spasm of anus|levator syndrome|levator ani syndrome|anorectal spasm|paroxysmal proctalgia|levator ani spasm syndrome|proctalgia fugax|psychogenic anal spasm NCIT:C113615|GARD:0006899|SCTID:62647006|MESH:C535890 https://rarediseases.info.nih.gov/diseases/6899/levator-syndrome owl:Class MONDO:0021003 biolink:NamedThing polydactyly A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms. tmpaxzxjjyw_mondo_relaxed.owl hyperdactyly|polydactyly|postaxial polydactyly|polydactyly (disease)|supernumerary digit|polydactylism polydactyly (disease) OMIM:174200|ICD10:Q69.1|SCTID:367506006|HP:0010442|ICD9:755.00|ICD9:755.0|NCIT:C87110|ICD10:Q69.2|MedDRA:10036063|OMIM:174500|ICD10:Q69.9|OMIM:174700|DOID:1148|OMIM:603596|ICD10:Q69.0|ICD10:Q69 owl:Class MONDO:0008641 biolink:NamedThing retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction. tmpaxzxjjyw_mondo_relaxed.owl vasculopathy, retinal, with cerebral leukodystrophy|cerebroretinal vasculopathy|ADRVCL|CRV|retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena|HVR|autosomal dominant retinal vasculopathy with cerebral leukodystrophy|retinal vasculopathy with cerebral leukodystrophy|hereditary vascular retinopathy|cerebroretinal vasculopathy, hereditary|grand-Kaine-fulling syndrome|grand Kaine fulling syndrome|RVCL-S|RVCL|retinal vasculopathy and cerebral leukoencephalopathy UMLS:C1860518|SCTID:720854004|SCTID:721141004|MESH:C566007|DOID:0111567|Orphanet:247691|GARD:0010535|GARD:0001217|GARD:0002558|OMIM:192315 Editor note: Orphanet:3421 is obsolete in the 2017 edition of ORDO, but the Orphanet website shows as active, see https://github.com/Orphanet/ORDO/issues/1 https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy|https://rarediseases.info.nih.gov/diseases/2558/grand-kaine-fulling-syndrome|https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukodystrophy owl:Class MONDO:0019723 biolink:NamedThing disease of glomerular basement membrane tmpaxzxjjyw_mondo_relaxed.owl basement membrane disease UMLS:CN206630|Orphanet:93550 owl:Class MONDO:0011125 biolink:NamedThing trichothiodystrophy 1, photosensitive tmpaxzxjjyw_mondo_relaxed.owl PIBIDS syndrome|trichothiodystrophy with congenital ichthyosis|TTD1|Tay syndrome|ichthyosiform erythroderma with hair Abnormality and mental and Growth retardation|trichothiodystrophy 1, photosensitive|trichothiodystrophy, photosensitive OMIM:601675|Orphanet:670 owl:Class MONDO:0007029 biolink:NamedThing branchio-oto-renal syndrome A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). tmpaxzxjjyw_mondo_relaxed.owl Melnick-Fraser syndrome|Branchio-otorenal dysplasia|branchiootorenal syndrome|Branchio oto renal syndrome|branchiootorenal dysplasia|Branchio-Oto-renal syndrome|bor syndrome|branchio-oto-renal syndrome EFO:1001251|UMLS:CN043574|SCTID:290006|DOID:14702|OMIM:610896|ICD10:Q87.8|NCIT:C98983|GARD:0010147|MESH:D019280|Orphanet:107|Wikipedia:Branchio-oto-renal_syndrome|UMLS:C0265234|OMIM:113650|MedDRA:10071135|ICD9:759.89 (From orphanet): Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts). Prevalence is 1/40,000. Renal involvement can lead to chronic renal insufficiency. The expression of the disease varies widely from one family to another and among individuals of the same family. Some families do not present with renal abnormalities or a urinary tree malformation. BOR syndrome is transmitted in an autosomal dominant manner. The causative gene, EYA1, is located on the long arm of chromosome 8. Point mutations and deletions in EYA1 have been identified in approximately 40% of affected individuals. Mutations have also been identified in the SIX1 and SIX5 genes, the products of which interact with EYA1 to form transcription factor complexes. Prenatal testing can be proposed to families in which the disease-causing mutation has been identified, but genetic counseling is difficult because of the clinical heterogeneity between individuals. Management of affected patients includes excision of branchial fistulae or cysts, hearing aids and education programs appropriate for the hearing impaired, and follow-up by a nephrologist. Dialysis or renal transplantation may be required. owl:Class MONDO:0020414 biolink:NamedThing persistent fifth aortic arch tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q25.4|Orphanet:99076 owl:Class HGNC:2898 biolink:NamedThing DLD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003459 biolink:NamedThing cervical adenofibroma A benign, polypoid neoplasm that arises from the cervix. It is characterized by the presence of epithelial and mesenchymal elements. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516402|NCIT:C40230|DOID:5476 owl:Class MONDO:0000644 biolink:NamedThing cervical benign neoplasm A non-metastasizing neoplasm that arises from the cervix. Representative examples include squamous papilloma, endocervical polyp, and rhabdomyoma. tmpaxzxjjyw_mondo_relaxed.owl benign cervix uteri tumor|benign tumor of uterine cervix|benign neoplasm of the uterine cervix|benign uterine cervix neoplasm|benign neoplasm of the cervix uteri|benign cervix uteri neoplasm|benign tumor of the uterine cervix|uterine cervix benign neoplasm|benign tumor of the cervix uteri|benign neoplasm of cervix uteri|benign tumor of cervix uteri|benign cervical neoplasm|benign neoplasm of uterine cervix|benign uterine cervix tumor SCTID:92056006|UMLS:C0153997|DOID:0060110|NCIT:C3607 owl:Class MONDO:0008818 biolink:NamedThing arterial tortuosity syndrome Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries. tmpaxzxjjyw_mondo_relaxed.owl arterial tortuosity|ATS|arterial tortuosity syndrome UMLS:C1859726|SCTID:458432002|OMIM:208050|MESH:C565942|DOID:0050645|ICD10:Q87.82|ICD10:I77.1|Orphanet:3342|GARD:0000774 owl:Class NCBITaxon:1913637 biolink:NamedThing Mucoromycota tmpaxzxjjyw_mondo_relaxed.owl PMID:27738200|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:112252 biolink:NamedThing Fungi incertae sedis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:451834 ncbi_taxonomy owl:Class UBERON:0010042 biolink:NamedThing 1st arch mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017268 biolink:NamedThing acral self-healing collodion baby Acral self-healing collodion baby (SHCB) is a variant of SHCB characterized by the presence at birth of a collodion membrane only at the extremities. tmpaxzxjjyw_mondo_relaxed.owl acral SHCB SCTID:718633009|ICD10:Q80.2|Orphanet:281127 owl:Class MONDO:0007469 biolink:NamedThing double nail for fifth toe tmpaxzxjjyw_mondo_relaxed.owl Double nails on the fifth toe|fifth toe, double nails|double nail for fifth toe MESH:C565090|GARD:0009672|OMIM:126500 https://rarediseases.info.nih.gov/diseases/9672/double-nails-on-the-fifth-toe owl:Class MONDO:0003641 biolink:NamedThing central nervous system hematopoietic neoplasm A primary or metastatic neoplasm of hematopoietic origin that affects the brain, meninges, or spinal cord. Representative examples include Hodgkin and non-Hodgkin lymphomas, histiocytic tumors, and leukemias. tmpaxzxjjyw_mondo_relaxed.owl hematopoietic neoplasm of CNS|central nervous system hematologic cancer|lymphomas and hemopoietic neoplasms of the CNS|central nervous system hematopoietic and lymphoid system neoplasm|central nervous system hematopoietic neoplasm|hematopoietic neoplasm of central nervous system|central nervous system hematopoietic tumor|lymphomas and hemopoietic neoplasms of CNS|hematopoietic neoplasm of the central nervous system|CNS hematopoietic tumor|hematopoietic and lymphoid system neoplasm of central nervous system|CNS hematopoietic neoplasm|central nervous system hematopoietic neoplasms|hematopoietic neoplasm of the CNS|hematopoietic tumor of the central nervous system|hematopoietic tumor of central nervous system DOID:5772|NCIT:C5503|UMLS:C1332882 owl:Class MONDO:0020469 biolink:NamedThing 48,XYYY syndrome 48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males. tmpaxzxjjyw_mondo_relaxed.owl 48,XYYY UMLS:CN207331|ICD10:Q98.8|GARD:0011985|UMLS:C4518082|Orphanet:99329|SCTID:733625003 owl:Class MONDO:0011918 biolink:NamedThing anxiety tmpaxzxjjyw_mondo_relaxed.owl harm avoidance|anxiety OMIM:607834 owl:Class GO:0010894 biolink:NamedThing negative regulation of steroid biosynthetic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015181 biolink:NamedThing congenital intestinal disease due to an enzymatic defect tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:104006 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: intestinal disease' MONDO_0005020 owl:Class MONDO:0016206 biolink:NamedThing idiopathic uveal effusion syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200962|Orphanet:209956 owl:Class MONDO:0018711 biolink:NamedThing intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:457365|UMLS:CN242088 owl:Class ECTO:9000433 biolink:NamedThing exposure to polycyclic arene An exposure to polycyclic arene. tmpaxzxjjyw_mondo_relaxed.owl exposure to polycyclic arene owl:Class MONDO:0011422 biolink:NamedThing autosomal recessive proximal renal tubular acidosis Autosomal recessive proximal renal tubular acidosis (AR pRTA) is a rare form of proximal renal tubular acidosis (pRTA) characterized by an isolated defect in the proximal tubule leading to the decreased reabsorption of bicarbonate and consequentially to urinary bicarbonate wastage along with additional characteristic clinical features. tmpaxzxjjyw_mondo_relaxed.owl renal tubular acidosis, proximal, with ocular abnormalities and mental retardation|proximal renal tubular acidosis, autosomal recessive|renal tubular acidosis, proximal, with ocular abnormalities and intellectual disability|RTA, proximal, autosomal recessive|AR pRTA|proximal renal tubular acidosis with ocular abnormalities and intellectual disability Orphanet:47159|OMIM:604278|Orphanet:93607|MESH:C567038|UMLS:C1970309 owl:Class MONDO:0037937 biolink:NamedThing pyrimidine metabolism disease A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of pyrimidine metabolism|disorder of pyrimidine nucleobase metabolic process|pyrimidine nucleobase metabolic process disease UMLS:C0268127|SCTID:85444005 owl:Class MONDO:0017273 biolink:NamedThing autosomal ichthyosis syndrome with fatal disease course tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:281241|UMLS:CN202794 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited ichthyosis' MONDO_0015947 owl:Class MONDO:0006353 biolink:NamedThing paranasal sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the paranasal sinuses. It is classified as inverted papilloma and oncocytic papilloma. tmpaxzxjjyw_mondo_relaxed.owl Schneiderian papilloma of accessory sinus|paranasal sinus Schneiderian papilloma|accessory sinus Schneiderian papilloma|Schneiderian papilloma of the paranasal sinus|Schneiderian papilloma of paranasal sinus|Schneiderian papilloma of the accessory sinus EFO:1000455|UMLS:C1335343|NCIT:C6835 owl:Class MONDO:0000633 biolink:NamedThing sensory organ benign neoplasm A benign neoplasm that involves the sense organ. tmpaxzxjjyw_mondo_relaxed.owl sense organ benign neoplasm DOID:0060096 owl:Class ECTO:9001627 biolink:NamedThing exposure to inorganic acid An exposure to inorganic acid. tmpaxzxjjyw_mondo_relaxed.owl exposure to inorganic acid owl:Class ECTO:0000650 biolink:NamedThing exposure to Bronsted acid An exposure to Bronsted acid. tmpaxzxjjyw_mondo_relaxed.owl exposure to Bronsted acid owl:Class MONDO:0006372 biolink:NamedThing pituicytoma An extremely rare, WHO grade I, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido. tmpaxzxjjyw_mondo_relaxed.owl pituicytoma|PTCY|posterior pituitary astrocytoma|pituicytoma (WHO grade I) ICD9:237.0|ICDO:9432/1|Orphanet:251623|SCTID:608817003|ONCOTREE:PTCY|NCIT:C94524|UMLS:C2986550|EFO:1000477|ICD10:C71.9 owl:Class MONDO:0021497 biolink:NamedThing benign neoplasm of cerebrum A benign neoplasm that involves the telencephalon. tmpaxzxjjyw_mondo_relaxed.owl telencephalon benign neoplasm|benign tumor of the cerebral hemispheres|benign neoplasm of cerebral hemispheres|benign neoplasm of the cerebral hemispheres|benign tumor of cerebrum|benign cerebral hemispheric tumor|benign tumor of the cerebrum|benign tumor of cerebral hemispheres|benign cerebral hemispheric neoplasm|benign cerebral neoplasm|benign neoplasm of the cerebrum|benign cerebral tumor SCTID:275269004|UMLS:C0686378|NCIT:C8548 owl:Class MONDO:0021374 biolink:NamedThing neoplasm of cerebral hemisphere A neoplasm involving a cerebral hemisphere. tmpaxzxjjyw_mondo_relaxed.owl cerebral neoplasms|neoplasm of telencephalon|neoplasm of the cerebrum|tumor of the cerebral hemispheres|neoplasm of cerebral hemispheres|cerebral hemispheric tumor|neoplasm of cerebrum|cerebral hemisphere neoplasm|cerebral hemispheric neoplasm|tumor of cerebral hemispheres|tumor of cerebral hemisphere|tumor of cerebrum|tumor of telencephalon|telencephalon neoplasm (disease)|cerebral tumor|cerebral hemisphere tumor|neoplasm of cerebral hemisphere|tumor of the cerebrum|cerebral neoplasm|neoplasm of the cerebral hemispheres|telencephalon tumor NCIT:C4874|SCTID:126953009 owl:Class UBERON:0010846 biolink:NamedThing radius pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003327 biolink:NamedThing mesenchyme of forearm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008166 biolink:NamedThing ovalocytosis, hereditary hemolytic, with defective erythropoiesis tmpaxzxjjyw_mondo_relaxed.owl ovalocytosis, hereditary hemolytic, with defective erythropoiesis UMLS:C1833689|MESH:C563479|OMIM:166910 owl:Class PATO:0002301 biolink:NamedThing decreased quality A quality that has a value that is decreased compared to normal or average. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002027 biolink:NamedThing Abdominal pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. tmpaxzxjjyw_mondo_relaxed.owl Upset stomach|Abdominal discomfort|Pain in stomach|Stomach pain|Gastrointestinal pain|Abdominal pain|Gastro pain MEDDRA:10000081|MSH:D015746|UMLS:C0000737|SNOMEDCT_US:21522001 Abdominal pain can be crampy, achy, dull, intermittent or sharp. The terms stomach ache and stomach cramps are nonmedical terms often used to describe pain in the mid- or upper abdominal area, even though it is not the case that the (smooth) muscles of the stomach or the abdomen have cramps. Stomach pain is another layperson term commonly used to refer to abdominal pain. human_phenotype owl:Class UBERON:0003428 biolink:NamedThing gonadal fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020746 biolink:NamedThing contractures, pterygia, and variable skeletal fusions syndrome 1B tmpaxzxjjyw_mondo_relaxed.owl OMIM:618469 owl:Class UBERON:0000946 biolink:NamedThing cardial valve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046879 biolink:NamedThing hormone secretion The regulated release of hormones, substances with a specific regulatory effect on a particular organ or group of cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100215 biolink:NamedThing Rajab interstitial lung disease with brain calcifications 1 tmpaxzxjjyw_mondo_relaxed.owl brain calcification, Rajab type|Rajab syndrome|NEDBLLA|developmental delay, small stature, microcephaly, and brain calcifications|neurodevelopmental disorder with brain, liver, and lung abnormalities UMLS:C3150910|Orphanet:178506|SCTID:720576001|UMLS:CN248515|OMIM:618007|OMIM:613658 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0009071 biolink:NamedThing hereditary renal hypouricemia Hereditary renal hypouricemia (HRH) is a rare autosomal recessively inherited renal membrane transport disorder affecting urate reabsorption in the proximal tubules leading to usually asymptomatic hypouricemia and predisposing to urolithiasis and exercise induced acute renal failure (EIARF). tmpaxzxjjyw_mondo_relaxed.owl renal hypouricemia|Dalmatian hypouricemia|hypouricemia, renal ICD9:790.6|OMIM:220150|Orphanet:94088|OMIM:612076|MESH:C537757|GARD:0009496|OMIM:242050|OMIM:307830|SCTID:236478009 owl:Class MONDO:0010983 biolink:NamedThing dystonia 9 A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. tmpaxzxjjyw_mondo_relaxed.owl DYT9|choreoathetosis/spasticity, episodic|paroxysmal dystonic choreathetosis with episodic ataxia and spasticity|dystonia type 9|episodic choreoathetosis/spasticity|dystonia 9|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|Cse choreoathetosis, paroxysmal, with episodic ataxia SCTID:715564000|MESH:C563401|Orphanet:53583|DOID:0090044|UMLS:C1832855|ICD10:G24.8|OMIM:601042 owl:Class MONDO:0016058 biolink:NamedThing paroxysmal dystonia tmpaxzxjjyw_mondo_relaxed.owl SCTID:230310003|Orphanet:200037|ICD9:333.99 owl:Class MONDO:0007987 biolink:NamedThing Kniest dysplasia Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root). tmpaxzxjjyw_mondo_relaxed.owl Kniest dysplasia OMIM:156550|DOID:0080045|MESH:C537207|UMLS:C0265279|NCIT:C125594|GARD:0006841|ICD10:Q77.7|SCTID:53974002|ICD9:756.9|Orphanet:485 https://rarediseases.info.nih.gov/diseases/6841/kniest-dysplasia owl:Class UBERON:8400021 biolink:NamedThing liver serosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002096 biolink:NamedThing malignant conjunctival melanoma A malignant melanoma within the conjunctiva of the eye. tmpaxzxjjyw_mondo_relaxed.owl malignant melanoma of the conjunctiva|malignant conjunctiva melanoma|CM|malignant melanoma of conjunctiva|malignant conjunctival melanoma|melanoma of conjunctiva|conjunctiva melanoma|melanoma (disease) of conjunctiva|melanoma of the conjunctiva|conjunctiva melanoma (disease)|conjunctival melanoma DOID:1751|EFO:1000204|SCTID:255004001|UMLS:C0346360|NCIT:C4550|ONCOTREE:CM|GARD:0010744 owl:Class MONDO:0011244 biolink:NamedThing Marshall-Smith syndrome Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth. tmpaxzxjjyw_mondo_relaxed.owl MRSHSS|accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome|Marshall-SMITH syndrome|Marshall-Smith syndrome ICD9:759.89|OMIM:602535|GARD:0006985|ICD10:Q87.3|Orphanet:561|MESH:C536026|DOID:0050858|UMLS:C0265211|SCTID:73284007 https://rarediseases.info.nih.gov/diseases/6985/marshall-smith-syndrome owl:Class OBO:CP_0000035 biolink:NamedThing polychromatophilic cytoplasm Cytoplasm that exhibits affinity for both basic and acid stains under specific pH conditions. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2009-12-28T04:25:23Z cell owl:Class GO:0017144 biolink:NamedThing drug metabolic process The chemical reactions and pathways involving a drug, a substance used in the diagnosis, treatment or prevention of a disease; as used here antibiotic substances (see antibiotic metabolism) are considered to be drugs, even if not used in medical or veterinary practice. tmpaxzxjjyw_mondo_relaxed.owl drug metabolism owl:Class MONDO:0008698 biolink:NamedThing achalasia A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food. tmpaxzxjjyw_mondo_relaxed.owl cardiospasm|achalasia|achalasia of esophagus|achalasia of cardia|achalasia (disease)|lack of reflex relaxation of lower oesophageal sphincter|hypertensive lower esophageal sphincter|esophageal achalasia achalasia (disease) OMIM:200400|UMLS:C0014848|UMLS:C1860213|DOID:9164|ICD9:530.0|UMLS:C1321756|HP:0002571|SCTID:235630008|NCIT:C84699|ICD10:K22.0|Orphanet:930 https://github.com/monarch-initiative/mondo/issues/4055 owl:Class GO:0060557 biolink:NamedThing positive regulation of vitamin D biosynthetic process Any process that increases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010827 biolink:NamedThing regulation of glucose transmembrane transport Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl regulation of glucose transport owl:Class GO:0034762 biolink:NamedThing regulation of transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl regulation of membrane transport owl:Class UBERON:0006288 biolink:NamedThing rib cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015019 biolink:NamedThing rib endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C101267 biolink:NamedThing Estrogen Receptor and/or Progesterone Receptor Positive tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C35682 biolink:NamedThing Positive Laboratory Test Result tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:22977 biolink:NamedThing cadmium atom tmpaxzxjjyw_mondo_relaxed.owl Cd|48Cd|cadmium|cadmio|Kadmium owl:Class CHEBI:33340 biolink:NamedThing zinc group element atom tmpaxzxjjyw_mondo_relaxed.owl zinc group element|zinc group elements|group 12 elements owl:Class MONDO:0014040 biolink:NamedThing autosomal recessive osteopetrosis 8 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive osteopetrosis type 8|osteopetrosis, autosomal recessive 8|osteopetrosis, autosomal recessive type 8|OPTB8|autosomal recessive osteopetrosis caused by mutation in SNX10|SNX10 autosomal recessive malignant osteopetrosis|SNX10 autosomal recessive osteopetrosis|autosomal recessive malignant osteopetrosis caused by mutation in SNX10 OMIM:615085|Orphanet:667|UMLS:C3554478|DOID:0110940|NCIT:C150556 owl:Class MONDO:0019026 biolink:NamedThing autosomal recessive osteopetrosis An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration. tmpaxzxjjyw_mondo_relaxed.owl infantile malignant osteopetrosis|malignant osteopetrosis|osteopetrosis (disease), autosomal recessive|autosomal recessive osteopetrosis (disease)|autosomal recessive osteopetrosis|OPTB|autosomal recessive malignant osteopetrosis SCTID:367489004|Orphanet:667|OMIM:259710|NCIT:C129733|OMIMPS:259700|OMIM:259700|OMIM:611490|ICD10:Q78.2|OMIM:615085 owl:Class MONDO:0003340 biolink:NamedThing malignant glomus tumor A very rare morphologic variant of glomus tumor with a size greater than 2 cm. The tumor arises in subfascial or visceral tissues. It is characterized by the presence of atypical mitotic figures, or marked nuclear atypia, or the combination of both. It has an aggressive clinical course. tmpaxzxjjyw_mondo_relaxed.owl malignant glomus tumor|glomus tumor, malignant|malignant glomus neoplasm|glomangiosarcoma NCIT:C4221|ICDO:8711/3|ICDO:8710/3|UMLS:C1266111|ONCOTREE:MGST|DOID:5233 owl:Class MONDO:0016174 biolink:NamedThing paraneoplastic sensory ganglionopathy tmpaxzxjjyw_mondo_relaxed.owl paraneoplastic sensory neuronopathy Orphanet:208999 owl:Class GO:0060454 biolink:NamedThing positive regulation of gastric acid secretion Any process that increases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003901 biolink:NamedThing cerebellar hemangioblastoma A histologically benign tumor, usually cystic with a vascular mural nodule, that is most often found in the cerebellum though it has been reported at other sites within the neuraxis. It is associated with von Hippel-Lindau disease (VHL gene located on chr 3p25-26). tmpaxzxjjyw_mondo_relaxed.owl cerebellar angioblastoma|cerebellar capillary hemangioblastoma|hemangioblastoma of the cerebellum|angioblastoma of the cerebellum|hemangioblastoma of cerebellum|cerebellum hemangioblastoma|cerebellar hemangioblastoma|angioblastoma of cerebellum DOID:6500|UMLS:C1332900|NCIT:C5146 owl:Class MONDO:0016748 biolink:NamedThing hemangioblastoma Hemangioblastoma is a rare, benign, highly vascularized tumor of the central nervous system, most often located in the cerebellum or spinal cord, presenting in adulthood and manifesting with dizziness, nausea, malaise, headache, bladder or bowel dysfunction, numbness, weakness and pain in the upper or lower extremities, and often associated with von Hippel-Lindau disease (VHL). Exceptional cases of hemangioblastoma arising outside of the central nervous system have been reported. tmpaxzxjjyw_mondo_relaxed.owl HMBL|angioblastoma|capillary hemangioblastoma|hemangioblastoma ONCOTREE:HMBL|Orphanet:252054|MedDRA:10018813|NCIT:C3801|DOID:5241|GARD:0008232|ICDO:9161/1|ICD10:D33.4|ICD10:D33.7|UMLS:C0206734|MESH:D018325 owl:Class GO:0070092 biolink:NamedThing regulation of glucagon secretion Any process that modulates the frequency, rate or extent of the regulated release of glucagon. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010190 biolink:NamedThing pair of dorsal aortae tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10628 biolink:NamedThing CCL3L1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6882 biolink:NamedThing MAPK8IP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8487 biolink:NamedThing ORC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16950 biolink:NamedThing STAMBP tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0600000 biolink:NamedThing exposure to environmental system A exposure event involving the interaction of an exposure receptor to environmental system. tmpaxzxjjyw_mondo_relaxed.owl environmental system exposure owl:Class HGNC:3259 biolink:NamedThing EIF2B3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013748 biolink:NamedThing ulnar metaphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004812 biolink:NamedThing acute dacryoadenitis Acute form of dacryoadenitis. tmpaxzxjjyw_mondo_relaxed.owl dacryoadenitis, acute DOID:952|UMLS:C0149505|ICD10:H04.01|SCTID:2589008|ICD9:375.01 owl:Class MONDO:0004804 biolink:NamedThing dacryoadenitis Inflammation and enlargement of the lacrimal gland. tmpaxzxjjyw_mondo_relaxed.owl inflammation of lacrimal gland|lacrimal gland inflammation SCTID:86927009|ICD10:H04.00|MESH:D003607|ICD9:375.00|NCIT:C26971|DOID:950|ICD9:375.0|UMLS:C0155223|ICD10:H04.0 owl:Class MONDO:0016913 biolink:NamedThing partial deletion of the long arm of chromosome 15 tmpaxzxjjyw_mondo_relaxed.owl monosomy 15q|partial monosomy 15q|partial monosomy of the long arm of chromosome 15|partial deletion of chromosome 15q|15q monosomy|15q deletion|deletion 15q|partial monosomy of chromosome 15q|chromosome 15q deletion|partial deletion of the long arm of chromosome type 15 ICD10:Q93.5|GARD:0001746|Orphanet:262119|MESH:C538038 owl:Class UBERON:0011203 biolink:NamedThing urachus mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016722 biolink:NamedThing pineoblastoma Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl pineoblastoma, malignant|primitive neuroectodermal tumor of pineal gland|pineal gland primitive neuroectodermal neoplasm|primitive neuroectodermal neoplasm of the pineal gland|primitive neuroectodermal neoplasm of pineal gland|pineoblastoma (WHO grade IV)|PNET of the pineal gland|pineal PNET|PNET of pineal gland|pineoblastoma|pineal primitive neuroectodermal neoplasm|pineal gland PNET|pineal primitive neuroectodermal tumor|primitive neuroectodermal tumor of the pineal gland|pineal gland primitive neuroectodermal tumor GARD:0009369|Orphanet:251909|ICDO:9362/3|EFO:1000475|DOID:1664|MedDRA:10050487|UMLS:C0205898|ONCOTREE:PBL|NCIT:C9344|ICD10:C75.3 https://rarediseases.info.nih.gov/diseases/9369/pineoblastoma owl:Class MONDO:0003434 biolink:NamedThing vaginal adenoma A glandular epithelial neoplasm that arises from the vagina and shows intestinal differentiation. tmpaxzxjjyw_mondo_relaxed.owl vaginal adenoma|vagina adenoma UMLS:C1519913|DOID:5402|NCIT:C40256 owl:Class GO:1905504 biolink:NamedThing negative regulation of motile cilium assembly Any process that stops, prevents or reduces the frequency, rate or extent of motile cilium assembly. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of motile primary cilium formation|downregulation of motile primary cilia assembly|inhibition of nodal cilium assembly|downregulation of motile primary cilium formation|negative regulation of motile primary cilia assembly|down-regulation of motile primary cilia formation|inhibition of motile primary cilia formation|negative regulation of motile primary cilium formation|down regulation of nodal cilium assembly|negative regulation of nodal cilium assembly|down-regulation of motile primary cilium assembly|inhibition of motile primary cilia assembly|down regulation of nodal cilium formation|downregulation of nodal cilium formation|down regulation of motile primary cilia formation|down-regulation of nodal cilium formation|down regulation of motile primary cilia assembly|down-regulation of nodal cilium assembly|downregulation of nodal cilium assembly|negative regulation of nodal cilium formation|negative regulation of motile primary cilium assembly|down-regulation of motile primary cilia assembly|downregulation of motile primary cilium assembly|down regulation of motile primary cilium assembly|inhibition of motile primary cilium assembly|down regulation of motile primary cilium formation|inhibition of nodal cilium formation|inhibition of motile primary cilium formation|downregulation of motile primary cilia formation|negative regulation of motile primary cilia formation owl:Class GO:1902018 biolink:NamedThing negative regulation of cilium assembly Any process that stops, prevents or reduces the frequency, rate or extent of cilium assembly. tmpaxzxjjyw_mondo_relaxed.owl inhibition of cilium biogenesis|negative regulation of cilium biogenesis|down regulation of cilium assembly|downregulation of cilium assembly|down regulation of ciliogenesis|negative regulation of ciliogenesis|inhibition of ciliogenesis|downregulation of cilium biogenesis|inhibition of cilium assembly|down-regulation of cilium biogenesis|down-regulation of ciliogenesis|down regulation of cilium biogenesis|downregulation of ciliogenesis|down-regulation of cilium assembly owl:Class ECTO:9000016 biolink:NamedThing exposure to hydrogen chloride An exposure to hydrogen chloride. tmpaxzxjjyw_mondo_relaxed.owl exposure to hydrogen chloride owl:Class MONDO:0004280 biolink:NamedThing asymmetric motor neuropathy tmpaxzxjjyw_mondo_relaxed.owl DOID:7559|NCIT:C27953|UMLS:C1332341 owl:Class MONDO:0004004 biolink:NamedThing motor nerve neuritis Inflammation of the peripheral motor nerves. tmpaxzxjjyw_mondo_relaxed.owl motor neuritis DOID:683|UMLS:C0235025 owl:Class MONDO:0011225 biolink:NamedThing severe combined immunodeficiency due to DCLRE1C deficiency Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation. tmpaxzxjjyw_mondo_relaxed.owl Athabaskan Severe combined immunodeficiency|SCID due to artemis deficiency|severe combined immunodeficiency due to DCLRE1C deficiency|DCLRE1C severe combined immunodeficiency (disease)|SCID, Athabascan type|SCID due to DCLRE1C deficiency|RS-SCID|severe combined immunodeficiency due to artemis deficiency|severe combined immunodeficiency due to ARTEMIS deficiency|SCID, Athabaskan type|severe combined immunodeficiency, Athabaskan type|severe combined immunodeficiency, Athabascan type|severe combined immunodeficiency with sensitivity to ionizing radiation|severe combined immunodeficiency (disease) caused by mutation in DCLRE1C|SCID due to ARTEMIS deficiency|severe combined immunodeficiency, Athabaskan-type|artemis deficiency|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation|severe combined immunodeficiency, partial DOID:0090012|DOID:0060006|OMIM:602450|OMIM:603554|ICD10:D81.1|GARD:0009987|SCTID:715982006|Orphanet:275 https://rarediseases.info.nih.gov/diseases/9987/severe-combined-immunodeficiency-with-sensitivity-to-ionizing-radiation owl:Class MONDO:0006013 biolink:NamedThing visna disease Demyelinating leukoencephalomyelitis of sheep caused by the visna-maedi virus. It is similar to but not the same as scrapie. tmpaxzxjjyw_mondo_relaxed.owl Visna/maedi virus infectious disease|Visna/maedi virus caused disease or disorder|Visna/maedi virus disease or disorder MESH:D016182|EFO:0007542|UMLS:C0080323 owl:Class CHEBI:35740 biolink:NamedThing liposaccharide tmpaxzxjjyw_mondo_relaxed.owl liposaccharides owl:Class CHEBI:63299 biolink:NamedThing carbohydrate derivative Any organooxygen compound derived from a carbohydrate by replacement of one or more hydroxy group(s) by an amino group, a thiol group or similar heteroatomic groups. The term also includes derivatives of these compounds. tmpaxzxjjyw_mondo_relaxed.owl derivatised carbohydrates|carbohydrate derivatives|derivatized carbohydrate|derivatised carbohydrate|derivatized carbohydrates owl:Class MONDO:0000396 biolink:NamedThing spastic cerebral palsy A form of cerebral palsy wherein spasticity is the exclusive impairment present. tmpaxzxjjyw_mondo_relaxed.owl hypertonic cerebral palsy UMLS:C0338596|NCIT:C116903|DOID:0050669|ICD9:344.89|SCTID:230773005 owl:Class MONDO:0006497 biolink:NamedThing cerebral palsy A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain. tmpaxzxjjyw_mondo_relaxed.owl infantile cerebral palsy SCTID:128188000|ICD10:G80.9|HP:0100021|UMLS:C0007789|ICD10:G80|ICD9:343.8|MESH:D002547|DOID:1969|NCIT:C34460|ICD9:343.9|EFO:1000632|CSP:0723-4729|GARD:0010450 owl:Class MONDO:0001241 biolink:NamedThing transient neonatal neutropenia tmpaxzxjjyw_mondo_relaxed.owl SCTID:55444004|UMLS:C0158997|ICD9:776.7|DOID:11245|ICD10:P61.5 owl:Class MONDO:0001475 biolink:NamedThing neutropenia A decrease in the number of neutrophils found in the blood. tmpaxzxjjyw_mondo_relaxed.owl neutropenia|neutropenic disorder ICD9:288.0|HP:0001875|ICD10:D70|SCTID:303011007|ICD10:D70.9|MESH:D009503|ICD9:288.00|DOID:1227|UMLS:C0027947 owl:Class MONDO:0001624 biolink:NamedThing acute sphenoidal sinusitis Acute form of sphenoid sinusitis. tmpaxzxjjyw_mondo_relaxed.owl sphenoidal sinus -acute|acute sphenoid sinusitis|sphenoid sinusitis, acute ICD9:461.3|SCTID:77919000|DOID:13046|ICD10:J01.30|ICD10:J01.3|UMLS:C0155807 owl:Class MONDO:0022057 biolink:NamedThing calcifying epithelial odontogenic tumor A slow growing, locally invasive neoplasm arising from tooth-forming tissues. It most often grows intraosseously in the mandible and less frequently in the maxilla. In a minority of cases it grows extraosseously in the gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Small tumors may be successfully treated with enucleation. Local resection is usually required for larger tumors. Recurrences have been reported in a minority of cases. tmpaxzxjjyw_mondo_relaxed.owl calcifying epithelial odontogenic tumor|CEOT|Pindborg tumor UMLS:C0334574|NCIT:C54301|GARD:0006256|ICDO:9340/0|MESH:C537961 https://rarediseases.info.nih.gov/diseases/6256/calcifying-epithelial-odontogenic-tumor owl:Class HGNC:2400 biolink:NamedThing CRYBB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9399 biolink:NamedThing PRKCD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011392 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 20 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11q25-qter. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 20|DFNB20|deafness, autosomal recessive 20|autosomal recessive deafness 20|autosomal recessive nonsyndromic deafness 20 ICD10:H90.3|DOID:0110478|UMLS:C1858840|MESH:C565828|OMIM:604060 owl:Class MONDO:0010007 biolink:NamedThing microbrachycephaly-ptosis-cleft lip syndrome Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Richieri-COSTA/Guion-Almeida syndrome|short stature, mental retardation, eye anomalies, and cleft Lip/palate|microbrachycephaly ptosis cleft lip|sao Paulo MCA/Mr syndrome|short stature, intellectual disability, eye anomalies, and cleft Lip/palate|Richieri Costa-Guion Almeida-Ramos syndrome GARD:0003596|UMLS:C0796142|OMIM:268850|Orphanet:2511|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/3596/microbrachycephaly-ptosis-cleft-lip owl:Class MONDO:0016559 biolink:NamedThing glaucoma secondary to spherophakia/ectopia lentis and megalocornea Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate. tmpaxzxjjyw_mondo_relaxed.owl megalocornea-spherophakia-secondary glaucoma syndrome Orphanet:238763|UMLS:CN201642|GARD:0010942|ICD10:Q15.8|OMIM:251750 owl:Class GO:0010959 biolink:NamedThing regulation of metal ion transport Any process that modulates the frequency, rate, or extent of metal ion transport. Metal ion transport is the directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021135 biolink:NamedThing rare or common tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0021125 biolink:NamedThing disease characteristic An attribute of a disease. tmpaxzxjjyw_mondo_relaxed.owl modifier|disease qualifier|qualifier NCIT:C41009 owl:Class MONDO:0011546 biolink:NamedThing heterotaxy, visceral, 2, autosomal tmpaxzxjjyw_mondo_relaxed.owl HTX2|heterotaxy, visceral, 2, autosomal|DTGA2|Htx|transposition of the great arteries, dextro-looped 2 UMLS:C1415817|Orphanet:450|OMIM:605376 owl:Class MONDO:0000153 biolink:NamedThing transposition of the great arteries A congenital cardiac defect in which two heart vessels are reversed (transposed). tmpaxzxjjyw_mondo_relaxed.owl complete transposition|TGA|TGV|transposition of great vessels|transposition of the great vessels|great vessels transposition MESH:D014188|ICD10:Q20.5|NCIT:C84742|Orphanet:216675|ICD10:Q20.3 owl:Class MONDO:0009234 biolink:NamedThing congenital high-molecular-weight kininogen deficiency A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis. tmpaxzxjjyw_mondo_relaxed.owl kininogen deficiency, total|HMWK deficiency|kininogen deficiency, high molecular weight and Low molecular weight|Hmwk deficiency|kininogen deficiency, high molecular weight and LOW molecular weight, included|Fitzgerald trait|Fitzgerald trait kininogen deficiency, total, included|HMWK|kininogen deficiency, high molecular weight|Williams trait, included|high molecular weight kininogen deficiency|high-molecular-weight kininogen deficiency, congenital|Flaujeac trait, included|Williams trait|Flaujeac trait|Flaujeac factor deficiency GARD:0002684|SCTID:27312002|MESH:C537060|ICD10:D68.8|Orphanet:483|OMIM:228960|NCIT:C98946|DOID:0111676|ICD9:286.9 https://rarediseases.info.nih.gov/diseases/2684/high-molecular-weight-kininogen-deficiency owl:Class MONDO:0012702 biolink:NamedThing celiac disease, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl CELIAC6|celiac disease, susceptibility to, 6|gluten-sensitive enteropathy, susceptibility to, 6|autoimmune disease, susceptibility to, 5 OMIM:611598 owl:Class UBERON:0009680 biolink:NamedThing set of upper jaw teeth tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009678 biolink:NamedThing tooth row tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002016 biolink:NamedThing CD71-low, GlyA-positive polychromatic erythroblast A polychromatiic erythroblast that is Gly-A-positive and CD71-low. tmpaxzxjjyw_mondo_relaxed.owl Cell surface markers are associated with human cells. tmeehan 2010-04-26T10:53:16Z cell owl:Class CL:0000550 biolink:NamedThing polychromatophilic erythroblast A nucleated, immature erythrocyte in which the nucleus occupies a relatively smaller part of the cell than in its precursor, the basophilic erythroblast. The cytoplasm is beginning to acquire hemoglobin and thus is no longer a purely basophilic, but takes on acidophilic aspects, which becomes progressively more marked as the cell matures. The chromatin of the nucleus is arranged in coarse, deeply staining clumps. This cell is CD71-positive and lacks hematopoeitic lineage markers. tmpaxzxjjyw_mondo_relaxed.owl polychromatophilic normoblast|intermediate normoblast|polychromatic erythroblast|intermediate erythroblast|rubricyte|polychromatic normoblast FMA:83506 cell owl:Class MONDO:0007709 biolink:NamedThing hematuria, benign familial tmpaxzxjjyw_mondo_relaxed.owl thin membrane nephropathy|hematuria, benign familial|thin-basement-membrane nephropathy|BFH Orphanet:97562|OMIM:141200|MESH:C562476|DOID:0111365 owl:Class MONDO:0009295 biolink:NamedThing glycogen storage disease VII Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood. tmpaxzxjjyw_mondo_relaxed.owl phosphofructokinase myopathy|muscle phosphofructokinase deficiency|GSD due to muscle phosphofructokinase deficiency|glycogen storage disease type VII|GSD 7|glycogen storage disease 7|PFKM glycogen storage disease|phosphofructokinase deficiency|glycogen storage disease caused by mutation in PFKM|Tarui disease|Pfkm deficiency|glycogen storage disease due to muscle phosphofructokinase deficiency|glycogen storage disease, type VII|glycogen storage disease VII|GSD type VII|glycogen storage disease type 7|glycogenosis type 7|GSD type 7|glycogenosis type VII|GSD7|GSDVII|glycogenosis due to muscle phosphofructokinase deficiency DOID:11721|Orphanet:371|GARD:0005686|MESH:D006014|MedDRA:10053241|OMIM:232800|UMLS:C0017926|NCIT:C118437|ICD10:E74.09|ICD10:E74.0|SCTID:89597008 owl:Class MONDO:0003751 biolink:NamedThing childhood germ cell tumor A germ cell tumor that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood germ cell neoplasm|childhood germ cell tumor|pediatric germ cell neoplasm|pediatric germ cell cancer|germ cell tumor|pediatric germ cell tumor NCIT:C7928|DOID:6053|UMLS:C0279014 owl:Class MONDO:0000636 biolink:NamedThing musculoskeletal system benign neoplasm A benign neoplasm that involves the musculoskeletal system. tmpaxzxjjyw_mondo_relaxed.owl musculoskeletal system benign neoplasm DOID:0060099 owl:Class GO:1900424 biolink:NamedThing regulation of defense response to bacterium Any process that modulates the frequency, rate or extent of defense response to bacterium. tmpaxzxjjyw_mondo_relaxed.owl regulation of antibacterial peptide activity|regulation of resistance response to pathogenic bacteria|regulation of defence response to pathogenic bacterium, incompatible interaction|regulation of defense response to bacteria|regulation of resistance response to pathogenic bacterium|regulation of defence response to bacterium|regulation of defence response to pathogenic bacteria, incompatible interaction|regulation of defence response to bacteria|regulation of defense response to bacterium, incompatible interaction|regulation of defence response to bacterium, incompatible interaction owl:Class MONDO:0024305 biolink:NamedThing acquired hyperprolactinemia An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl pregnancy-related A-G syndrome|Chiari-Frommel syndrome|hyperprolactinemia|acquired hyperprolactinemia (disease) DOID:12700|ICD10:E22.1 owl:Class GO:0016068 biolink:NamedThing type I hypersensitivity An inflammatory response driven by antigen recognition by antibodies bound to Fc receptors on mast cells or basophils, occurring within minutes after exposure of a sensitized individual to the antigen, and leading to the release of a variety of inflammatory mediators such as histamines. tmpaxzxjjyw_mondo_relaxed.owl immediate hypersensitivity response owl:Class MONDO:0011994 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 41 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant deafness 41|autosomal dominant nonsyndromic deafness caused by mutation in P2RX2|autosomal dominant nonsyndromic deafness 41|deafness, autosomal dominant type 41|deafness, autosomal dominant 41|P2RX2 autosomal dominant nonsyndromic deafness|DFNA41|autosomal dominant nonsyndromic deafness type 41 UMLS:C1842371|OMIM:608224|ICD10:H90.3|DOID:0110567|MESH:C564272 owl:Class MONDO:0012556 biolink:NamedThing DK1-CDG DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity. tmpaxzxjjyw_mondo_relaxed.owl CDG1M|congenital disorder of glycosylation, type Im|hypotonia and ichthyosis due to dolichol phosphate deficiency|congenital disorder of glycosylation type Im|DOLK-CDG (CDG-Im)|CDGIm|congenital disorder of glycosylation type 1m|CDG-Im|carbohydrate deficient glycoprotein syndrome type Im|dolichol kinase deficiency|CDG Im|Dk1 deficiency|CDG syndrome type Im GARD:0012393|DOID:0080565|ICD10:E77.8|MESH:C563666|Orphanet:91131|SCTID:718712005|OMIM:610768 owl:Class GO:1905636 biolink:NamedThing positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding Any process that activates or increases the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of RNA polymerase II regulatory region sequence-specific DNA binding|upregulation of RNA polymerase II regulatory region sequence-specific DNA binding|up regulation of RNA polymerase II regulatory region sequence-specific DNA binding|activation of RNA polymerase II regulatory region sequence-specific DNA binding owl:Class MONDO:0004000 biolink:NamedThing childhood pilocytic astrocytoma A pilocytic astrocytoma that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood pilocytic astrocytoma|pilocytic astrocytoma of childhood|pilocytic astrocytoma|pediatric pilocytic astrocytoma NCIT:C4048|DOID:6812|UMLS:C1332995 owl:Class MONDO:0016691 biolink:NamedThing pilocytic astrocytoma Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but ocurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported. tmpaxzxjjyw_mondo_relaxed.owl pilocytic astrocytoma|astrocytoma, pilocytic, benign|grade I astrocytoma|grade I astrocytic neoplasm|Piloid astrocytoma|grade I astrocytic tumor|astrocytoma, benign ONCOTREE:PAST|NCIT:C4047|SCTID:763865009|GARD:0009808|ICDO:9421/1|ICD10:C79.1|MESH:D001254|ICD10:C71.9|DOID:4851|Orphanet:251612|UMLS:C0334583 owl:Class MONDO:0009188 biolink:NamedThing epilepsy-telangiectasia syndrome Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency|epilepsy telangiectasia|mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency|epilepsy-telangiectasia UMLS:C1856929|GARD:0002168|OMIM:226850|ICD10:G40.8|MESH:C535497|Orphanet:1951 owl:Class MONDO:0006824 biolink:NamedThing Krebs 2 carcinoma Carcinoma having known association to krebs2 gene mutation tmpaxzxjjyw_mondo_relaxed.owl MESH:D002287|UMLS:C0007128|EFO:1001007 owl:Class MONDO:0021654 biolink:NamedThing diffuse cutaneous mucinosis tmpaxzxjjyw_mondo_relaxed.owl ICD9:701.8|UMLS:C0406655|SCTID:238945000 owl:Class MONDO:0002523 biolink:NamedThing cutaneous mucinosis The mucinoses are a diverse group of disorders which have in common the deposition of basophilic, finely granular and stringy material (mucin) in the connective tissues of the dermis (dermal mucinoses), in the pilosebaceous follicles (follicular mucinoses), or in the epidermis and tumors derived therefrom (epithelial mucinoses). tmpaxzxjjyw_mondo_relaxed.owl mucinosis|mucinosis affecting the skin|mucinoses DOID:3141|ICD9:701.8|MESH:D017520|SCTID:402721001|UMLS:C0162855 Editor note: consider splitting by location owl:Class UBERON:0015766 biolink:NamedThing epithelium of duct of salivary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000750 biolink:NamedThing exposure to biomarker An exposure to biomarker. tmpaxzxjjyw_mondo_relaxed.owl exposure to biomarker owl:Class MONDO:0008192 biolink:NamedThing paragangliomas 1 Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene. tmpaxzxjjyw_mondo_relaxed.owl carotid body tumors|paraganglioma, carotid body|glomus jugulare tumors|glomus tumors, familial, 1|paragangliomas, familial nonchromaffin, 1|paragangliomas 1|SDHD paraganglioma|PGL1|Paragangliomata|paragangliomas with sensorineural hearing loss|paragangliomas type 1|paraganglioma caused by mutation in SDHD|chemodectomas|paragangliomas, familial, 1 OMIM:168000|GARD:0007324|Orphanet:29072|UMLS:C0030421 owl:Class MONDO:0017366 biolink:NamedThing hereditary pheochromocytoma-paraganglioma Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas). tmpaxzxjjyw_mondo_relaxed.owl hereditary pheochromocytoma-paraganglioma|hereditary paraganglioma-pheochromocytoma|SDHx-related paraganglioma-pheochromocytoma|familial pheochromocytoma-paraganglioma OMIM:614165|ICD10:D35.6|OMIM:115310|OMIM:168000|OMIM:605373|ICD10:D35.0|ICD10:C75.5|GARD:0011984|OMIM:601650|Orphanet:29072|OMIM:171300|ICD10:C74.1|UMLS:C1708353 https://rarediseases.info.nih.gov/diseases/11984/hereditary-paraganglioma-pheochromocytoma owl:Class SO:0000578 biolink:NamedThing snoRNA_encoding A region that can be transcribed into a small nucleolar RNA (snoRNA). tmpaxzxjjyw_mondo_relaxed.owl snoRNA encoding owl:Class SO:0000011 biolink:NamedThing non_protein_coding A gene which can be transcribed, but will not be translated into a protein. tmpaxzxjjyw_mondo_relaxed.owl non protein-coding owl:Class HP:0000858 biolink:NamedThing Irregular menstruation Abnormally high variation in the amount of time between periods. tmpaxzxjjyw_mondo_relaxed.owl Menstrual irregularities|Irregular menses|Menstrual irregularity|Irregular periods SNOMEDCT_US:80182007|UMLS:C0156404 Most women have between 11 and 13 menstrual periods each year. Bleeding usually lasts around 5 days (range: 2 to 7 days). When menstruation first starts, it can take up to 2 years to establish a regular cycle. After puberty, most women's menstruation is regular. The length of time between each period is similar. The normal menstrual cycle length is 28 (+/- 7) days days with the menstruation lasting between 2 and 7 days. It can take up to 2 years from menarche to develop a mature hypothalamic-pituitary-gonadal (HPG) axis. Within 1 year, 75 percent of girls have a cycle between 21 and 45 days. By the fifth gynecological year, 90 percent of girls will have regular cycles. human_phenotype owl:Class HP:0000140 biolink:NamedThing Abnormality of the menstrual cycle An abnormality of the ovulation cycle. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the menstrual cycle|Menstrual abnormalities UMLS:C3549779|UMLS:C4025888 human_phenotype owl:Class HGNC:2597 biolink:NamedThing CYP1B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023521 biolink:NamedThing Judge Misch wright syndrome tmpaxzxjjyw_mondo_relaxed.owl keratodermia palmoplantar periorificial|palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia|dry skin, photophobia hyperkeratosis, abnormal fingernails GARD:0003061|UMLS:C2931590|MESH:C537692 https://rarediseases.info.nih.gov/diseases/3061/judge-misch-wright-syndrome owl:Class MONDO:0002884 biolink:NamedThing nail disorder A disease involving the nail. tmpaxzxjjyw_mondo_relaxed.owl nail disease|nail disease or disorder|disorder of nail|disease or disorder of nail|disease of nail ICD9:703|ICD10:L60.9|ICD9:703.8|MESH:D009260|ICD10:L60|SCTID:17790008|UMLS:C0027339|ICD9:703.9|DOID:4123 owl:Class MONDO:0032714 biolink:NamedThing facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome tmpaxzxjjyw_mondo_relaxed.owl FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME|FHEIG OMIM:618381 owl:Class MONDO:0009353 biolink:NamedThing homocystinuria due to methylene tetrahydrofolate reductase deficiency Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations. tmpaxzxjjyw_mondo_relaxed.owl MTHFR deficiency, thermolabile type|Methylenetetrahydro-folate reductase deficiency|Homocysteinuria due to methylenetetrahydro-folate reductase deficiency|homocystinuria due to MTHFR deficiency|5,10 alpha methylenetetrahydro-folate reductase deficiency|Homocysteinemia due to methylenetetrahydro-folate reductase deficiency|homocystinuria due to deficiency of N(5,10)-methylenetetrahydrofolate reductase activity|5,10-alpha-methylenetetrahydro-folate reductase deficiency|MTHFR deficiency|methylenetetrahydrofolate reductase deficiency|methylene tetrahydrofolate reductase deficiency|homocystinuria due to methylene tetrahydrofolate reductase deficiency SCTID:41797007|MESH:C537357|GARD:0002734|ICD10:E72.1|Orphanet:395|OMIM:236250 owl:Class MONDO:0017313 biolink:NamedThing disorder of folate metabolism and transport tmpaxzxjjyw_mondo_relaxed.owl Orphanet:285657|UMLS:CN227114 owl:Class MONDO:0060456 biolink:NamedThing cerebral sclerosis, diffuse, scholz type tmpaxzxjjyw_mondo_relaxed.owl cerebral sclerosis, diffuse, scholz type MESH:C564449|OMIM:302700 owl:Class GO:0045916 biolink:NamedThing negative regulation of complement activation Any process that stops, prevents, or reduces the frequency, rate or extent of complement activation. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of complement activation|down regulation of complement activation|inhibition of complement activation|downregulation of complement activation|negative regulation of complement cascade owl:Class GO:0030449 biolink:NamedThing regulation of complement activation Any process that modulates the frequency, rate or extent of complement activation. tmpaxzxjjyw_mondo_relaxed.owl regulation of complement cascade owl:Class MONDO:0024193 biolink:NamedThing portal hypertension, noncirrhotic tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:617068 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010368 biolink:NamedThing immunodeficiency without anhidrotic ectodermal dysplasia tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency, Pure|immunodeficiency, isolated|immunodeficiency without anhidrotic ectodermal dysplasia MESH:C536289|GARD:0009917|UMLS:C1845117|OMIM:300584 https://rarediseases.info.nih.gov/diseases/9917/immunodeficiency-without-anhidrotic-ectodermal-dysplasia owl:Class NCBITaxon:6308 biolink:NamedThing Strongylida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0002140 biolink:NamedThing Ischemic stroke Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. tmpaxzxjjyw_mondo_relaxed.owl Ischaemic stroke UMLS:C0948008|SNOMEDCT_US:422504002 human_phenotype owl:Class HP:0002637 biolink:NamedThing Cerebral ischemia tmpaxzxjjyw_mondo_relaxed.owl Disruption of blood oxygen supply to brain|Cerebrovascular ischemia|Brain ischemia MSH:D002545|SNOMEDCT_US:287731003|UMLS:C0917798|UMLS:C0007786|SNOMEDCT_US:389100007 human_phenotype owl:Class MONDO:0018402 biolink:NamedThing female infertility due to gonadal dysgenesis tmpaxzxjjyw_mondo_relaxed.owl rare female infertility due to gonadal dysgenesis|female infertility due to ovarian dysgenesis|rare female infertility due to ovarian dysgenesis 2022-03-01 Orphanet:399877|ICD10:N97.0 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: female infertility' MONDO_0021124 owl:Class HGNC:3402 biolink:NamedThing EPHX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001558 biolink:NamedThing lower respiratory tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010786 biolink:NamedThing chronic diarrhea with villous atrophy Chronic diarrhea with villous atrophy is a rare, genetic gastroenterological disease characterized by the early onset of chronic diarrhea, vomiting, anorexia, lactic acidosis, renal insuficiency and hepatic involvement (mild elevation of liver enzymes, steatosis, hepatomegaly). Partial villous atrophy (with eosinophilic infiltration) is observed on intestinal biopsy. Although diarrhea may resolve, the development of neurologic symptoms (cerebellar ataxia, sensorineural deafness, seizures), retinitis pigmentosa and muscle weakness may complicate disease course and lead to death. There have been no further descriptions in the literature since 1994. tmpaxzxjjyw_mondo_relaxed.owl diarrhea, chronic, with villous atrophy MESH:C564019|UMLS:C1838912|ICD10:K59.1|OMIM:520100|Orphanet:1670 owl:Class GO:0098773 biolink:NamedThing skin epidermis development The process whose specific outcome is the progression of the skin epidermis over time, from its formation to the mature structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060429 biolink:NamedThing epithelium development The process whose specific outcome is the progression of an epithelium over time, from its formation to the mature structure. An epithelium is a tissue that covers the internal or external surfaces of an anatomical structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003334 biolink:NamedThing serosa of rectum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001209 biolink:NamedThing serosa of large intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021953 biolink:NamedThing tuberculous fibrosis of lung Scarring of the lung parenchyma caused by pulmonary tuberculosis. tmpaxzxjjyw_mondo_relaxed.owl tuberculous fibrosis of lung|Tuberculous Fibrosis of Lung|Tuberculous fibrosis of lung ICD9:011.40|UMLS:C0041336|NCIT:C35088|ICD9:011.42|ICD9:011.43|SCTID:90117007|ICD9:011.46|ICD9:011.41|ICD9:011.44 owl:Class MONDO:0006052 biolink:NamedThing pulmonary tuberculosis A bacterial infection that affects the lungs and is caused by Mycobacterium tuberculosis. Most patients with tuberculosis do not have symptoms (latent tuberculosis) and are not contagious. When signs and symptoms occur (active tuberculosis), patients become contagious. The signs and symptoms include chronic cough with blood-tinged sputum, night sweats, fever, fatigue, and weight loss. tmpaxzxjjyw_mondo_relaxed.owl lung tuberculosis|lung TB|pulmonary TB ICD10:A15.0|ICD9:011.84|ICD9:011.85|SCTID:154283005|EFO:1000049|ICD9:011.80|ICD9:011.90|ICD9:011.96|ICD10:A15|ICD9:011.16|ICD9:011.9|DOID:2957|ICD9:011.86|NCIT:C26899|ICD9:011.81|MESH:D014397|ICD9:011.92|UMLS:C0041327|ICD9:011 owl:Class MONDO:0007512 biolink:NamedThing ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet MESH:C565067|OMIM:129540|UMLS:C1851851 owl:Class HGNC:30972 biolink:NamedThing SECISBP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019788 biolink:NamedThing non-secreting paraganglioma Non-functioning paraganglioma is a rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilia, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed. tmpaxzxjjyw_mondo_relaxed.owl non-functioning paraganglioma Orphanet:94080|SCTID:764999002 owl:Class UBERON:0034907 biolink:NamedThing pineal parenchyma tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030278 biolink:NamedThing regulation of ossification Any process that modulates the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpaxzxjjyw_mondo_relaxed.owl regulation of bone biosynthesis|regulation of bone formation owl:Class CL:1000804 biolink:NamedThing kidney outer medulla interstitial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001094 cell owl:Class GO:0014056 biolink:NamedThing regulation of acetylcholine secretion, neurotransmission Any process that modulates the frequency, rate or extent of the regulated release of acetylcholine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008695 biolink:NamedThing chorea-acanthocytosis Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. tmpaxzxjjyw_mondo_relaxed.owl chorea acanthocytosis|Levine-Critchley syndrome|choreoacanthocytosis|chorea-acanthocytosis|Chac|neuroacanthocytosis|choreaacanthocytosis|CHOREOACANTHOCYTOSIS|choreo-acanthocytosis|acanthocytosis with neurologic disorder Orphanet:2388|GARD:0003956|OMIM:200150|ICD10:E78.6|DOID:0050766|ICD9:333.0|SCTID:66881004 owl:Class GO:0008614 biolink:NamedThing pyridoxine metabolic process The chemical reactions and pathways involving pyridoxine, 2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine, one of the vitamin B6 compounds. Pyridoxal, pyridoxamine and pyridoxine are collectively known as vitamin B6, and are efficiently converted to the biologically active form of vitamin B6, pyridoxal phosphate. tmpaxzxjjyw_mondo_relaxed.owl pyridoxine metabolism owl:Class GO:0042816 biolink:NamedThing vitamin B6 metabolic process The chemical reactions and pathways involving any of the vitamin B6 compounds: pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate. tmpaxzxjjyw_mondo_relaxed.owl vitamin B6 metabolism owl:Class UBERON:0002081 biolink:NamedThing cardiac atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004151 biolink:NamedThing cardiac chamber tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:137419 biolink:NamedThing secondary ammonium ion An organic cation obtained by protonation of any secondary amino compound; major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl a secondary amine|secondary amine(1+) owl:Class CHEBI:35274 biolink:NamedThing ammonium ion derivative A derivative of ammonium, NH4(+), in which one (or more) of the hydrogens bonded to the nitrogen have been replaced with univalent organyl groups. The substituting carbon of the organyl group must not itself be directly attached to a heteroatom (thereby excluding protonated amides, hemiaminals, etc). tmpaxzxjjyw_mondo_relaxed.owl azanium ion derivative|azanium ion derivatives|ammonium ion derivatives owl:Class GO:2000542 biolink:NamedThing negative regulation of gastrulation Any process that stops, prevents or reduces the frequency, rate or extent of gastrulation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002056 biolink:NamedThing inferior suprarenal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005624 biolink:NamedThing suprarenal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006624 biolink:NamedThing vacuolar protein processing Protein processing that takes place in the vacuole. Most protein processing in the vacuole represents proteolytic cleavage of precursors to form active enzymes. tmpaxzxjjyw_mondo_relaxed.owl vacuolar protein maturation|vacuolar proteolysis owl:Class MONDO:0007669 biolink:NamedThing renal cysts and diabetes syndrome Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome. tmpaxzxjjyw_mondo_relaxed.owl maturity onset diabetes of the Young, type 5|FJHN atypical|hepatocyte nuclear Factor 1-beta-associated monogenic diabetes|RCAD syndrome|familial hypoplastic glomerulocystic kidney|atypical familial juvenile hyperuricemic nephropathy|congenital anomalies of the kidney and urinary tract with diabetes|HNF1B-MODY|RCAD|maturity-onset diabetes of the young type 5|MODY type 5|atypical FJHN|hyperuricemic nephropathy, familial juvenile, atypical|FJHN, atypical|HNF1B-related renal cysts and diabetes syndrome|maturity-onset diabetes of the Young, type 5|renal dysfunction-early-onset diabetes syndrome|glomerulocystic kidney, familial hypoplastic|renal cysts-maturity-onset diabetes of the young syndrome|renal cysts and diabetes syndrome|MODY5|CAKUT with diabetes|hypoplastic type glomerulocystic kidney disease|glomerulocystic kidney disease, hypoplastic type Orphanet:93111|UMLS:CN206512|ICD10:E11.2|SCTID:446641003|MESH:C535520|OMIM:137920|NCIT:C123018|OMIM:616026|DOID:0111101|UMLS:C0431693|GARD:0010221 https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5 owl:Class HGNC:124 biolink:NamedThing ACP5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033683 biolink:NamedThing congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl MYSM1 deficiency Orphanet:508542 owl:Class MONDO:0019060 biolink:NamedThing bone neoplasm A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. tmpaxzxjjyw_mondo_relaxed.owl bone tumor|tumor of bone|bone tissue tumor|primary malignant neoplasm of bone|bone tumors|tumor of the bone|rare bone tumor|bone tissue neoplasm|bone neoplasm|primary bone cancer|neoplasm of the bone|neoplasm of bone tissue|bone neoplasms|tumor of bone tissue|osseous neoplasm|osseous tumor|neoplasm of bone ONCOTREE:BONE|Orphanet:68411|NCIT:C9343|GARD:0013223 owl:Class MONDO:0012863 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl Adhd6|attention Deficit-hyperactivity disorder, susceptibility to, type 6|digit span quantitative trait locus|attention deficit-hyperactivity disorder, susceptibility to, 6 OMIM:612312 owl:Class MONDO:0007743 biolink:NamedThing attention deficit-hyperactivity disorder A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type. tmpaxzxjjyw_mondo_relaxed.owl attention deficit hyperactivity disorder|attention deficit-hyperactivity disorder|ADHD|attention deficit/hyperactivity disorder|hyperactivity of childhood NCIT:C97160|OMIM:143465 owl:Class MONDO:0008765 biolink:NamedThing Leber congenital amaurosis 2 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene. tmpaxzxjjyw_mondo_relaxed.owl amaurosis congenita of Leber 2|amaurosis congenita of Leber, type 2|amaurosis congenita of Leber II|LCA2|Leber congenital amaurosis caused by mutation in RPE65|Leber congenital amaurosis 2|Leber congenital amaurosis type 2|RPE65 Leber congenital amaurosis DOID:0110016|OMIM:204100|GARD:0000636|UMLS:C1859844|MESH:C536601|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/636/leber-congenital-amaurosis-2 owl:Class MONDO:0013929 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 98 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive deafness 98|autosomal recessive nonsyndromic deafness type 98|autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR|DFNB98|deafness, autosomal recessive type 98|TSPEAR autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 98|deafness, autosomal recessive 98 UMLS:C3553932|ICD10:H90.3|OMIM:614861|DOID:0110540 owl:Class MONDO:0019193 biolink:NamedThing acquired generalized lipodystrophy Acquired generalized lipodystrophy belongs to a group of lipodystrophic syndromes characterized by loss of adipose tissue, and is a syndrome of insulin resistance that leads to increased cardiovascular risk. Acquired generalized lipodystrophy is related to a selective loss of subcutaneous adipose tissue occurring exclusively at the extremities (face, legs, arms, palms and sometimes soles). tmpaxzxjjyw_mondo_relaxed.owl acquired lipoatrophic diabetes|acquired generalized lipodystrophy|Lawrence-Seip syndrome|Lawrence syndrome DOID:0080300|ICD10:E88.1|GARD:0012603|Orphanet:79086|SCTID:86907008|NCIT:C131089|UMLS:C0271693 https://rarediseases.info.nih.gov/diseases/12603/acquired-generalized-lipodystrophy owl:Class MONDO:0006502 biolink:NamedThing acute respiratory distress syndrome Progressive and life-threatening pulmonary distress in the absence of an underlying pulmonary condition, usually following major trauma or surgery. Cases of neonatal respiratory distress syndrome are not included in this definition. tmpaxzxjjyw_mondo_relaxed.owl acute lung injury|shock lung|Stiff lung|ALI|ARDS|increased-permeability pulmonary edema|non-cardiogenic pulmonary edema|acute respiratory distress syndrome ICD10:J80|NCIT:C3353|GARD:0005698|MedDRA:10001052|EFO:1000637 This disease can present as a mild ARDS (PaO2/FiO2 of 201–300 mmHg) moderate ARDS (PaO2/FiO2 of 101–200 mmHg) and severe ARDS (PaO2/FiO2 ≤100 mmHg). [PMID:30872586] owl:Class MONDO:0016672 biolink:NamedThing hereditary persistence of fetal hemoglobin-sickle cell disease syndrome tmpaxzxjjyw_mondo_relaxed.owl HPFH-sickle cell disease syndrome HGNC:5153|OMIM:142470|OMIM:141749|HGNC:3627|OMIM:613566|ICD10:D57.2|Orphanet:251380|UMLS:CN201912 owl:Class GO:0002714 biolink:NamedThing positive regulation of B cell mediated immunity Any process that activates or increases the frequency, rate, or extent of B cell mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl upregulation of B cell mediated immunity|positive regulation of B lymphocyte mediated immunity|positive regulation of B-lymphocyte mediated immunity|up regulation of B cell mediated immunity|activation of B cell mediated immunity|up-regulation of B cell mediated immunity|stimulation of B cell mediated immunity|positive regulation of B-cell mediated immunity owl:Class GO:0002824 biolink:NamedThing positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017290 biolink:NamedThing familial intrahepatic cholestasis An instance of intrahepatic cholestasis that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary intrahepatic cholestasis ICD10:K83.1|Orphanet:284385|UMLS:CN239338|SCTID:74162007|ICD9:576.8|UMLS:CN227107 owl:Class MONDO:0030847 biolink:NamedThing arthrogryposis, distal, type 1C tmpaxzxjjyw_mondo_relaxed.owl DA1C|arthrogryposis, distal, type 1C OMIM:619110 owl:Class MONDO:0100286 biolink:NamedThing respiratory syncytial virus bronchiolitis Bronciolitis caused by infection with respiratory syncytial virus. tmpaxzxjjyw_mondo_relaxed.owl RSV bronchiolitis http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0002465 biolink:NamedThing bronchiolitis Inflammation of the bronchioles characterized by swelling of the bronchioles and mucus accumulation. It is usually caused by the respiratory syncytial virus and affects children. Signs and symptoms include coughing, wheezing, and shortness of breath. tmpaxzxjjyw_mondo_relaxed.owl bronchiolitis|wheezy bronchitis|RSV bronchiolitis|bronchiolitis (disease)|viral bronchiolitis bronchiolitis (disease) UMLS:C0006271|DOID:2942|SCTID:4120002|ICD9:466.19|NCIT:C39658|MESH:D001988|HP:0011950 owl:Class MONDO:0021402 biolink:NamedThing polyp of external auditory canal A polyp that involves the external acoustic meatus. tmpaxzxjjyw_mondo_relaxed.owl external Ear polyp|external auditory canal polyp|external acoustic meatus polyp|polyp of the external auditory canal SCTID:95211004|UMLS:C0339765|NCIT:C4366 owl:Class MONDO:0021235 biolink:NamedThing external ear neoplasm A neoplasm (disease) that involves the external ear. tmpaxzxjjyw_mondo_relaxed.owl external ear tumor|external ear neoplasm (disease)|neoplasm of external ear|tumor of the external Ear|tumor of external ear|neoplasm of the external Ear|neoplasm of external Ear|external Ear tumor|tumor of external Ear UMLS:C0349575|NCIT:C4652|SCTID:277155005 owl:Class GO:0048875 biolink:NamedThing chemical homeostasis within a tissue Any process involved in the maintenance of the internal steady state of the amount of a chemical at the level of the tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12687 biolink:NamedThing VHL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006699 biolink:NamedThing choledocholithiasis Presence or formation of gallstones in the common bile duct. tmpaxzxjjyw_mondo_relaxed.owl MESH:D042883|EFO:1000865|DOID:11755|UMLS:C0701818|MedDRA:10049891 owl:Class MONDO:0005346 biolink:NamedThing gallstones Solid crystalline precipitates in the biliary tract, usually formed in the gallbladder, resulting in the condition of cholelithiasis. Gallstones, derived from the bile, consist mainly of calcium, cholesterol, or bilirubin. tmpaxzxjjyw_mondo_relaxed.owl MESH:D042882|ICD9:574.20|SCTID:235919008|EFO:0004210 owl:Class OBO:CHR_9606-chr15 biolink:NamedThing chromosome 15 (Human) tmpaxzxjjyw_mondo_relaxed.owl 15 101991189 0 hg38 owl:Class UBERON:0001759 biolink:NamedThing vagus nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030104 biolink:NamedThing water homeostasis Any process involved in the maintenance of an internal steady state of water within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl osmoregulation|regulation of osmotic pressure owl:Class GO:0048878 biolink:NamedThing chemical homeostasis Any biological process involved in the maintenance of an internal steady state of a chemical. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012982 biolink:NamedThing episodic ataxia type 6 Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia. tmpaxzxjjyw_mondo_relaxed.owl EA6|hereditary episodic ataxia caused by mutation in SLC1A3|SLC1A3 hereditary episodic ataxia|episodic ataxia, type 6|episodic ataxia type 6 ICD10:G11.8|OMIM:612656|SCTID:718753002|UMLS:C2675211|MESH:C567207|DOID:0050994|Orphanet:209967 owl:Class MONDO:0016227 biolink:NamedThing hereditary episodic ataxia Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2. tmpaxzxjjyw_mondo_relaxed.owl episodic ataxia|episodic ataxia syndrome|ea syndrome|Isaacs syndrome GARD:0009851|ICD10:G11.8|EFO:1000638|OMIMPS:160120|DOID:963|SCTID:421455009|Orphanet:211062|UMLS:C1720189 owl:Class GO:0002713 biolink:NamedThing negative regulation of B cell mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl downregulation of B cell mediated immunity|inhibition of B cell mediated immunity|negative regulation of B-cell mediated immunity|down regulation of B cell mediated immunity|down-regulation of B cell mediated immunity|negative regulation of B lymphocyte mediated immunity|negative regulation of B-lymphocyte mediated immunity owl:Class GO:1901227 biolink:NamedThing negative regulation of transcription from RNA polymerase II promoter involved in heart development Any negative regulation of transcription from RNA polymerase II promoter that is involved in heart development. tmpaxzxjjyw_mondo_relaxed.owl downregulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of transcription from Pol II promoter involved in cardiac development|negative regulation of global transcription from Pol II promoter involved in heart development|down regulation of global transcription from RNA polymerase II promoter involved in cardiac development|inhibition of transcription from RNA polymerase II promoter involved in heart development|inhibition of transcription from RNA polymerase II promoter involved in cardiac development|downregulation of transcription from RNA polymerase II promoter involved in cardiac development|down regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|downregulation of global transcription from RNA polymerase II promoter involved in heart development|down-regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of transcription from RNA polymerase II promoter involved in cardiac development|down-regulation of global transcription from RNA polymerase II promoter involved in heart development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|down regulation of transcription from RNA polymerase II promoter involved in heart development|negative regulation of global transcription from Pol II promoter involved in cardiac development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|downregulation of global transcription from RNA polymerase II promoter involved in cardiac development|negative regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of transcription from Pol II promoter involved in heart development|down-regulation of global transcription from RNA polymerase II promoter involved in cardiac development|down-regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|inhibition of transcription from RNA polymerase II promoter involved in dorsal vessel development|inhibition of global transcription from RNA polymerase II promoter involved in heart development|inhibition of global transcription from RNA polymerase II promoter involved in cardiac development|downregulation of transcription from RNA polymerase II promoter involved in heart development|negative regulation of global transcription from Pol II promoter involved in dorsal vessel development|down regulation of transcription from RNA polymerase II promoter involved in cardiac development|inhibition of global transcription from RNA polymerase II promoter involved in dorsal vessel development|negative regulation of transcription from Pol II promoter involved in dorsal vessel development|down regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|down regulation of global transcription from RNA polymerase II promoter involved in heart development|down-regulation of transcription from RNA polymerase II promoter involved in cardiac development|down-regulation of transcription from RNA polymerase II promoter involved in heart development|downregulation of transcription from RNA polymerase II promoter involved in dorsal vessel development owl:Class GO:1901213 biolink:NamedThing regulation of transcription from RNA polymerase II promoter involved in heart development Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the development of the heart over time. tmpaxzxjjyw_mondo_relaxed.owl global transcription regulation from Pol II promoter involved in dorsal vessel development|regulation of transcription from RNA polymerase II promoter involved in cardiac development|global transcription regulation from Pol II promoter involved in heart development|regulation of global transcription from Pol II promoter involved in dorsal vessel development|regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|regulation of global transcription from Pol II promoter involved in heart development|regulation of transcription from Pol II promoter involved in heart development|regulation of transcription from Pol II promoter involved in cardiac development|regulation of transcription from RNA polymerase II promoter, global involved in cardiac development|global transcription regulation from Pol II promoter involved in cardiac development|regulation of transcription from RNA polymerase II promoter, global involved in dorsal vessel development|regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|regulation of global transcription from Pol II promoter involved in cardiac development|regulation of transcription from Pol II promoter involved in dorsal vessel development|regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|regulation of transcription from RNA polymerase II promoter, global involved in heart development owl:Class CL:0002598 biolink:NamedThing bronchial smooth muscle cell tmpaxzxjjyw_mondo_relaxed.owl BTO:0004402 tmeehan 2011-03-06T05:46:39Z cell owl:Class HP:0031409 biolink:NamedThing Abnormal lymphocyte physiology Any anomaly of lymphocyte function. tmpaxzxjjyw_mondo_relaxed.owl 2017-09-04 12:08:45+00:00 peter human_phenotype owl:Class HP:0011017 biolink:NamedThing Abnormal cellular physiology An abnormality in a cellular process. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of cell physiology UMLS:C4023595 peter 2011-02-22T07:05:50Z HP:0025462 human_phenotype owl:Class HGNC:5172 biolink:NamedThing HR tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030017 biolink:NamedThing sarcomere The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004415 biolink:NamedThing lipid-cell variant infiltrating bladder urothelial carcinoma tmpaxzxjjyw_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, Lipid-cell variant DOID:7967|UMLS:C1512738|NCIT:C39828 owl:Class MONDO:0003890 biolink:NamedThing infiltrating bladder urothelial carcinoma An invasive transitional cell carcinoma that arises from the urinary bladder urothelium. tmpaxzxjjyw_mondo_relaxed.owl invasive bladder transitional cell carcinoma|infiltrating bladder urothelial carcinoma|infiltrating transitional cell carcinoma of the urinary bladder|invasive transitional cell carcinoma of the urinary bladder|invasive bladder urothelial carcinoma NCIT:C27885|UMLS:C1334281|DOID:6477 owl:Class HsapDv:0000132 biolink:NamedThing 38-year-old human stage Adult stage that refers to an adult who is over 38 and under 39. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004126 biolink:NamedThing thyroiditis Inflammation of the thyroid gland. This category includes Hashimoto thyroiditis, Riedel thyroiditis, acute thyroiditis, subacute thyroiditis, and radiation-induced thyroiditis. tmpaxzxjjyw_mondo_relaxed.owl inflammation of thyroid gland|thyroid gland inflammation|thyroiditis (disease)|thyroiditis thyroiditis (disease) MESH:D013966|DOID:7166|HP:0100646|ICD9:245|ICD10:E06.9|SCTID:82119001|NCIT:C26894|ICD9:245.9|ICD10:E06|UMLS:C0040147 owl:Class HP:0100267 biolink:NamedThing Lip pit A depression located on a lip. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341059 doelkens 2010-07-20T04:06:32Z human_phenotype owl:Class HP:0100276 biolink:NamedThing Skin pit A small, skin-lined tract that leads from the surface to deep within the tissues. tmpaxzxjjyw_mondo_relaxed.owl Skin pits|Skin pit UMLS:C4020712|UMLS:C4022172 doelkens 2010-08-05T10:51:32Z human_phenotype owl:Class MONDO:0008262 biolink:NamedThing Poland syndrome Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. tmpaxzxjjyw_mondo_relaxed.owl Poland's syndrome|Poland syndactyly|pectoralis muscle, absence of|Poland's syndactyly|unilateral defect of pectoralis muscle and syndactyly of the hand|Poland syndrome|Poland sequence|Poland anomaly OMIM:173800|MESH:D011045|GARD:0007412|ICD9:756.89|MedDRA:10036007|ICD10:Q79.8|DOID:12961|Orphanet:2911|NCIT:C85017|UMLS:C0032357|SCTID:38371006 https://rarediseases.info.nih.gov/diseases/7412/poland-syndrome owl:Class MONDO:0008364 biolink:NamedThing Raynaud disease An episodic vasoconstriction resulting in discoloration of the skin and pain in the affected areas, often involving fingers or toes. Classically associated with triphasic color changes (white, blue, red) but may be biphasic. Often occurs in response to cold temperatures or emotional stress. May be primary or secondary to an underlying autoimmune disease. tmpaxzxjjyw_mondo_relaxed.owl Raynaud disease|Raynaud's disease|secondary Raynaud's disease|secondary Raynaud disease|Raynaud's syndrome (disorder) [ambiguous]|Raynaud syndrome|secondary Raynaud phenomenon|Raynaud's syndrome|cold fingers, hereditary|secondary Raynaud's phenomenon ICD9:443.0|SCTID:195295006|ICD10:I73.0|DOID:10300|MESH:D011928|UMLS:C0034734|EFO:1001145|OMIM:179600|NCIT:C116359 owl:Class MONDO:0014543 biolink:NamedThing congenital myasthenic syndrome 14 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital myasthenic syndrome 14, with tubular aggregates|myasthenic syndrome, congenital, type 14|CMSTA3|congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2|congenital myasthenic syndrome 14|congenital myasthenic syndrome type 14|myasthenic syndrome, congenital, with tubular aggregates 3|CMS14|congenital myasthenic syndrome with tubular aggregates 3|myasthenic syndrome, congenital, 14|ALG2 congenital myasthenic syndromes with glycosylation defect UMLS:C4015597|Orphanet:353327|OMIM:616228|Orphanet:590|DOID:0110669 owl:Class MONDO:0018144 biolink:NamedThing congenital myasthenic syndromes with glycosylation defect tmpaxzxjjyw_mondo_relaxed.owl Orphanet:353327|OMIM:616227|OMIM:614750|OMIM:616228|ICD10:G70.2|OMIM:610542 owl:Class MONDO:0006046 biolink:NamedThing ovarian serous cystadenocarcinoma A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features. tmpaxzxjjyw_mondo_relaxed.owl ovarian serous cystadenocarcinoma NCIT:C7978|UMLS:C0279663|EFO:1000043|DOID:5746 owl:Class MONDO:0005211 biolink:NamedThing ovarian serous adenocarcinoma An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. tmpaxzxjjyw_mondo_relaxed.owl ovarian serous carcinoma|serous adenocarcinoma of ovary|serous ovarian cancer|serous carcinoma of ovary|serous carcinoma of the ovary|ovary serous adenocarcinoma|ovarian serous adenocarcinoma|serous adenocarcinoma of the ovary EFO:0002917|NCIT:C7550|ONCOTREE:SOC|DOID:5744|DOID:0050933|NCIT:C40025 MONDO:0003625 owl:Class MONDO:0018138 biolink:NamedThing ocular albinism with congenital sensorineural hearing loss tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive Waardenburg syndrome type 2 with ocular albinism|Waardenburg syndrome, type 2, with ocular albinism, autosomal recessive|WS2-OA|ocular albinism with sensorineural deafness|ocular albinism with congenital sensorineural deafness|Waardenburg syndrome type 2 with ocular albinism|albinism, ocular, with sensorineural deafness|digenic Waardenburg syndrome/albinism|digenic Waardenburg syndrome/ocular albinism Orphanet:352740|DOID:0090100|OMIM:103470|ICD10:E70.3|UMLS:C1863198 https://github.com/monarch-initiative/mondo/issues/551 owl:Class HGNC:6595 biolink:NamedThing LHX3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:72695 biolink:NamedThing organic molecule Any molecule that consists of at least one carbon atom as part of the electrically neutral entity. tmpaxzxjjyw_mondo_relaxed.owl organic molecules|organic compound|organic compounds owl:Class MONDO:0008521 biolink:NamedThing tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges. tmpaxzxjjyw_mondo_relaxed.owl synostosis of talus and calcaneus with short stature|tarsal carpal coalition syndrome|TCC|tarsal-carpal coalition syndrome GARD:0009225|OMIM:186400|OMIM:186570|UMLS:C1861305|ICD9:756.9|EFO:0008965|DOID:0050789|ICD10:Q74.8|Orphanet:1412|SCTID:702312009 https://rarediseases.info.nih.gov/diseases/9225/tarsal-carpal-coalition-syndrome owl:Class MONDO:0018224 biolink:NamedThing hydroa vacciniforme-like lymphoma A rare, EBV-positive cutaneous T-cell lymphoproliferative disorder, composed of CD8 positive cytotoxic T-lymphocytes. It affects children, almost exclusively in Latin America and Asia. Patients present with papulovesicular skin lesions, clinically resembling hydroa vacciniforme, in areas of sun-exposed skin. tmpaxzxjjyw_mondo_relaxed.owl hV-like lymphoma|hydroa vacciniforme-like lymphoproliferative disorder|angiocentric cutaneous T-cell lymphoma of childhood|HVLL|hydroa vacciniforme-like lymphoma|hydroa vacciniforme-like cutaneous T-cell lymphoma|hydroa-like cutaneous T-cell lymphoma NCIT:C45327|ICDO:9725/3|ICD10:C84.5|SCTID:763719001|Orphanet:364039|UMLS:C1708397 owl:Class MONDO:0006188 biolink:NamedThing EBV-positive T-cell lymphoproliferative disorder of childhood An Epstein-Barr virus-associated mature T-cell lymphoproliferative group of disorders affecting children. It occurs with increased frequency in Asians and Native Americans. It includes the systemic EBV-positive T-cell lymphoma of childhood and the hydroa vacciniforme-like lymphoma. tmpaxzxjjyw_mondo_relaxed.owl EBV-positive T-cell lymphoproliferative disorder of childhood|EBV-positive T-cell lymphoproliferative disease of childhood UMLS:C2699838|NCIT:C80373|EFO:1000228 owl:Class GO:0001817 biolink:NamedThing regulation of cytokine production Any process that modulates the frequency, rate, or extent of production of a cytokine. tmpaxzxjjyw_mondo_relaxed.owl regulation of cytokine formation|regulation of cytokine anabolism|regulation of cytokine secretion|regulation of cytokine biosynthesis|regulation of cytokine biosynthetic process|regulation of cytokine synthesis owl:Class MONDO:0019737 biolink:NamedThing thrombotic microangiopathy The syndromes of microangiopathic hemolytic anemia, thrombocytopenia, and variable signs of organ impairment, due to platelet aggregation in the microcirculation. tmpaxzxjjyw_mondo_relaxed.owl ICD9:446.6|UMLS:C2717961|MedDRA:10043645|SCTID:126729006|MESH:D057049|ICD10:M31.1|Orphanet:93573|NCIT:C62605|GARD:0012465 owl:Class GO:0010560 biolink:NamedThing positive regulation of glycoprotein biosynthetic process Any process that increases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001790 biolink:NamedThing terrestrial ecosystem tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001307 biolink:NamedThing capsule of ovary tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002354 biolink:NamedThing benign laryngeal neoplasm A non-metastasizing neoplasm that arises from the larynx. Representative examples include squamous papilloma and hemangioma. tmpaxzxjjyw_mondo_relaxed.owl laryngeal tumor|benign neoplasm of the larynx|laryngeal neoplasm, benign|larynx benign neoplasm|benign laryngeal neoplasm|benign larynx tumor|larynx neoplasm|benign larynx neoplasm|benign tumor of the larynx|benign tumor of larynx|benign neoplasm of larynx|benign laryngeal tumor|laryngeal benign neoplasm UMLS:C0023055|NCIT:C3601|DOID:2598|SCTID:92175003|ICD9:212.1|SCTID:126692004|UMLS:C0153952|MESH:D007822 owl:Class HGNC:164 biolink:NamedThing ACTN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:49169 biolink:NamedThing D-dopa The D-enantiomer of dopa. tmpaxzxjjyw_mondo_relaxed.owl 3-hydroxy-D-tyrosine|(+)-3-(3,4-dihydroxyphenyl)alanine|D-3-(3,4-dihydroxyphenyl)alanine|(2R)-2-amino-3-(3,4-dihydroxyphenyl)propanoic acid|D-3,4-dihydroxyphenylalanine|D-dopa|3,4-dihydroxy-D-phenylalanine|dopa D-form|(+)-3,4-dihydroxyphenylalanine owl:Class CHEBI:49168 biolink:NamedThing dopa A hydroxyphenylalanine carrying hydroxy substituents at positions 3 and 4 of the benzene ring. tmpaxzxjjyw_mondo_relaxed.owl (+-)-3-(3,4-dihydroxyphenyl)alanine|3-hydroxytyrosine|DL-3,4-dopa|DL-beta-(3,4-dihydroxyphenyl)alanine|beta-(3,4-dihydroxyphenyl)-DL-alpha-alanine|DL-dihydroxyphenylalanine|dopa|DL-dioxyphenylalanine|2-amino-3-(3,4-dihydroxyphenyl)propanoic acid|(+-)-dopa|dl-beta-(3,4-dihydroxyphenyl)-alpha-alanine|3-hydroxy-DL-tyrosine|3',4'-dihydroxyphenylalanine|(R,S)-dopa owl:Class GO:1905881 biolink:NamedThing positive regulation of oogenesis Any process that activates or increases the frequency, rate or extent of oogenesis. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of oogenesis|activation of ovum development|activation of oogenesis|up regulation of ovum development|upregulation of oogenesis|up regulation of oogenesis|positive regulation of ovum development|up-regulation of ovum development|upregulation of ovum development owl:Class MONDO:0003107 biolink:NamedThing infratentorial cancer Malignant neoplasms which arise or occur within the intracranial cavity below the tentorium cerebelli. This includes neoplasms within the brain and/or surrounding spaces. tmpaxzxjjyw_mondo_relaxed.owl malignant infratentorial neoplasm|brain neoplasm, infratentorial|malignant infratentorial tumor|malignant infratentorial tumors|infratentorial neoplasms, malignant ICD10:C71.7|UMLS:C0751593|DOID:4706|NCIT:C4966|MESH:D015192 owl:Class MONDO:0011066 biolink:NamedThing Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus). tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, type 4B1|Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1|Charcot-Marie-Tooth neuropathy, type 4B1|Charcot-Marie-Tooth disease type 4 caused by mutation in MTMR2|CMT4B1|Charcot-Marie-Tooth disease, type 4B|MTMR2 Charcot-Marie-Tooth disease type 4|CMT 4B|Charcot-Marie-Tooth disease type 4B1|Charcot Marie Tooth disease type 4B1|autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1|CMT 4B1|Charcot-Marie-Tooth neuropathy type 4B1 Orphanet:99955|SCTID:715803003|GARD:0001253|OMIM:601382|MESH:C535420|DOID:0110191|UMLS:C1832399|ICD10:G60.0 https://rarediseases.info.nih.gov/diseases/1253/charcot-marie-tooth-disease-type-4b1 owl:Class MONDO:0003244 biolink:NamedThing central nervous system mesenchymal non-meningothelial tumor A benign or malignant mesenchymal neoplasm originating in the central nervous system or the meninges and showing fibrous, fibrohistiocytic, adipose, myoid, endothelial, chondroid or osseous, but not meningothelial differentiation. Depending on the histological features and clinical behavior of these neoplasms, their grade ranges from benign (WHO grade I) to highly malignant (WHO grade IV). (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl central nervous system soft tissue neoplasm|central nervous system mesenchymal, non-meningothelial neoplasm|soft tissue tumor of the central nervous system|central nervous system soft tissue tumor|soft tissue neoplasm of CNS|CNS soft tissue tumor|mesenchymal, non-meningothelial tumor of CNS|non-meningothelial mesenchymal tumor|mesenchymal, non-meningothelial tumor of central nervous system|soft tissue tumor of the CNS|mesenchymal, non-meningothelial tumor of the CNS|soft tissue tumor of CNS|soft tissue neoplasm of central nervous system|soft tissue tumor of central nervous system|CNS soft tissue neoplasm|soft tissue neoplasm of the CNS|mesenchymal non-meningothelial tumor of the central nervous system|central nervous system mesenchymal, non-meningothelial tumor|soft tissue neoplasm of the central nervous system DOID:502|NCIT:C5449|UMLS:C1332893 owl:Class MONDO:0011146 biolink:NamedThing tetrasomy 12p Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p. tmpaxzxjjyw_mondo_relaxed.owl Pallister Killian syndrome|Isochromosome 12p syndrome|tetrasomy type 12p|Teschler-Nicola Killian syndrome|Pallister mosaic syndrome|Killian syndrome|Hexasomy 12P, Mosaic|chromosome 12, Isochromosome 12p syndrome|PKS|Pallister-Killian syndrome|Killian Teschler-Nicola syndrome|Pallister-Killian mosaic syndrome|tetrasomy 12P, Mosaic|Isochromosome 12p mosaicism|Isochromosome 12P syndrome GARD:0008421|NCIT:C75458|Orphanet:884|UMLS:C0265449|OMIM:601803|ICD9:758.81|ICD10:Q99.8|MESH:C538105|SCTID:9527009 owl:Class MONDO:0019717 biolink:NamedThing chromosomal disease with overgrowth tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN206622|Orphanet:93461 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: chromosomal disorder' MONDO_0019040 owl:Class MONDO:0014479 biolink:NamedThing porokeratosis 8, disseminated superficial actinic type tmpaxzxjjyw_mondo_relaxed.owl POROK8|porokeratosis 8, disseminated superficial actinic type OMIM:616063|UMLS:C4015128|Orphanet:79152 owl:Class MONDO:0019212 biolink:NamedThing disseminated superficial actinic porokeratosis Disseminated superficial actinic porokeratosis (DSAP) is the most common form of porokeratosis characterized by the presence of several small annular plaques with a distinctive keratotic rim found most commonly on sun-exposed areas of the skin, particularly the extremities. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q82.8|SCTID:41495000|OMIM:612353|Orphanet:79152|OMIM:616631|OMIM:175900|ICD9:692.75|OMIM:616063|OMIM:612293|OMIM:614714|GARD:0010983|OMIM:607728 owl:Class MONDO:0044312 biolink:NamedThing immunoskeletal dysplasia with neurodevelopmental abnormalities tmpaxzxjjyw_mondo_relaxed.owl IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities|ISDNA UMLS:C4479452|OMIM:617425 owl:Class GO:2000725 biolink:NamedThing regulation of cardiac muscle cell differentiation Any process that modulates the frequency, rate or extent of cardiac muscle cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl regulation of cardiomyocyte differentiation|regulation of heart muscle cell differentiation owl:Class GO:1905207 biolink:NamedThing regulation of cardiocyte differentiation Any process that modulates the frequency, rate or extent of cardiocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl regulation of cardiac cell differentiation|regulation of heart cell differentiation owl:Class MONDO:0003882 biolink:NamedThing central nervous system fibrosarcoma A usually aggressive malignant neoplasm arising from the central nervous system. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpaxzxjjyw_mondo_relaxed.owl fibrosarcoma of CNS|fibrosarcoma of the central nervous system|central nervous system fibrosarcoma|CNS fibrosarcoma|central nervous system fibrosarcoma (disease)|fibrosarcoma of central nervous system|fibrosarcoma of the CNS UMLS:C1332879|DOID:6451|NCIT:C5465 owl:Class MONDO:0020539 biolink:NamedThing extragonadal non-dysgerminomatous germ cell tumor tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99913|UMLS:CN207440 owl:Class MONDO:0018201 biolink:NamedThing extragonadal germ cell tumor A germ cell tumor arising in an anatomic site other than the testis or ovary (e.g., central nervous system, lung, mediastinum, and retroperitoneum). tmpaxzxjjyw_mondo_relaxed.owl tumor of extragonadal germ cell|primary extragonadal germ cell tumor|tumor of the extragonadal germ cell|extragonadal germ cell tumor|neoplasm of extragonadal germ cell|extragonadal germ cell neoplasm|extragonadal germ cell neoplasms|neoplasm of the extragonadal germ cell NCIT:C3918|UMLS:C0262963|UMLS:CN204711|GARD:0009325|Orphanet:363579 owl:Class MONDO:0013467 biolink:NamedThing immunodeficiency due to ficolin3 deficiency tmpaxzxjjyw_mondo_relaxed.owl lectin complement activation pathway, defect in, 3|ficolin 3 deficiency|Fcn3 deficiency|immunodeficiency due to ficolin 3 deficiency SCTID:766705006|Orphanet:331190|UMLS:C3151226|OMIM:613860|ICD10:D84.1 owl:Class MONDO:0044209 biolink:NamedThing disorder of lectin complement activation pathway A disease that has its basis in the disruption of complement activation, lectin pathway. tmpaxzxjjyw_mondo_relaxed.owl disorder of complement activation, lectin pathway|complement activation, lectin pathway disease OMIMPS:614372 owl:Class MONDO:0017532 biolink:NamedThing postaxial polydactyly type A, bilateral tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q69.0|UMLS:CN203263|Orphanet:295165 owl:Class UBERON:0005677 biolink:NamedThing caecum mesentery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018173 biolink:NamedThing acute opioid poisoning Acute opioid poisoning is a rare intoxication with opioids, a large group of alkaloid analgesics, mainly characterized by miosis (pinpoint pupil), respiratory depression (bradypnea/apnea) and central nervous system depression (sedation or coma). Other manifestations include hypotension, reduced bowel motility, hypothermia and hypoglycemia. Naloxone, a competitive inhibitor of the mu-opioid receptor, is a potent antagonist and is used as the antidote for opioid intoxication. tmpaxzxjjyw_mondo_relaxed.owl ICD10:T40.1|UMLS:CN227277|ICD10:T40.0|ICD10:T40.2|Orphanet:35889 owl:Class MONDO:0001947 biolink:NamedThing suppurative thyroiditis Acute inflammatory disease of the thyroid gland due to infections by bacteria; fungi; or other microorganisms. Symptoms include tender swelling, fever, and often with leukocytosis. tmpaxzxjjyw_mondo_relaxed.owl suppurative thyroiditis|infectious thyroiditis|acute suppurative thyroiditis|abscess of thyroid MESH:D013969|UMLS:C0040150|DOID:14350|SCTID:25476006|EFO:1001431|NCIT:C129724|ICD10:E06.0 owl:Class MONDO:0008787 biolink:NamedThing microcytic anemia with liver iron overload Congenital hypochromic microcytic anemia with progressive liver iron overload paradoxically associated with normal to moderately elevated serum ferritin levels has been described in three unrelated patients. tmpaxzxjjyw_mondo_relaxed.owl microcytic anemia and hepatic iron overload|hypochromic microcytic anemia with iron overload|anemia, hypochromic microcytic, with iron overload 1|anemia, hypochromic microcytic, with iron overload type 1|AHMIO1 SCTID:711161006|Orphanet:83642|GARD:0012360|ICD10:D50.8|OMIM:206100 owl:Class MONDO:0011893 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 52 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31.1-q32. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 52|autosomal dominant deafness 52|autosomal dominant nonsyndromic deafness 52|DFNA52|deafness, autosomal dominant 52|deafness, autosomal dominant 42 UMLS:C1843232|OMIM:607683|ICD10:H90.3|Orphanet:90635|MESH:C564348|DOID:0110578 owl:Class MONDO:0001164 biolink:NamedThing antisocial personality disorder A disorder characterized by a pervasive pattern of disregard for and violation of the rights of others that is manifested in childhood or early adolescence. (adapted from DSM-IV) tmpaxzxjjyw_mondo_relaxed.owl psychopathy|asocial personality|sociopathic personality|psychopathic personality disorder|psychopathic personality|psychopath.personality|dissocial personality disorder|Sociopathy ICD10:F60.2|SCTID:26665006|NCIT:C88413|DOID:10939|ICD9:301.7|MESH:D000987 owl:Class MONDO:0008214 biolink:NamedThing Pelger-Huet anomaly An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear. tmpaxzxjjyw_mondo_relaxed.owl Pelger Huet anomaly|Pelger-Huet anomaly|Pelger-Huet nuclear anomaly|PHA|ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities OMIM:169400|DOID:9631|SCTID:85559002|GARD:0009148|EFO:1001093|UMLS:C0030779|MESH:D010381|NCIT:C85002|MedDRA:10029377 owl:Class HGNC:11536 biolink:NamedThing TAF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007477 biolink:NamedThing 3-M syndrome 3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence. tmpaxzxjjyw_mondo_relaxed.owl 3M syndrome|Le Merrer syndrome|dolichospondylic dysplasia|gloomy face syndrome Yakut short stature syndrome, included|dwarfism with tall vertebrae|gloomy face syndrome|Dolichospondylic dysplasia|3-M syndrome|three-M slender-boned nanism|3-MSBN|Yakut short stature syndrome|Miller-McKusick-Malvaux syndrome|three M syndrome|3M1|three M syndrome 1 OMIM:273750|OMIM:612921|OMIMPS:273750|SCTID:702342007|MESH:C535314|DOID:0060241|Orphanet:2616|GARD:0005667|ICD10:Q87.1|OMIM:614205|ICD9:756.59 owl:Class MONDO:0019699 biolink:NamedThing slender bone dysplasia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93440 owl:Class MONDO:0001783 biolink:NamedThing endometrial stromal nodule A non-infiltrating, benign mesenchymal neoplasm arising from the uterine corpus. It is characterized by the presence of neoplastic cells that resemble the cells of the proliferative phase of endometrial stroma and numerous thin-walled small vessels. It usually presents with abnormal uterine bleeding and menorrhagia. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4262|SCTID:721571001|EFO:1000241|UMLS:C0334485|DOID:1373|ICDO:8930/0 owl:Class MONDO:0004526 biolink:NamedThing mixed endometrial stromal and smooth muscle tumor A benign or malignant mesenchymal neoplasm of the uterine corpus. Representative examples include leiomyoma, leiomyosarcoma, and endometrial stromal sarcoma. tmpaxzxjjyw_mondo_relaxed.owl uterine corpus soft tissue neoplasm|Stromomyoma|mixed endometrial stromal and smooth muscle neoplasm UMLS:C1519865|UMLS:C1513364|DOID:8302|NCIT:C40178 owl:Class GO:0032414 biolink:NamedThing positive regulation of ion transmembrane transporter activity Any process that activates or increases the activity of an ion transporter. tmpaxzxjjyw_mondo_relaxed.owl up regulation of ion transporter activity|positive regulation of ion transporter activity|stimulation of ion transporter activity|up-regulation of ion transporter activity|activation of ion transporter activity|upregulation of ion transporter activity owl:Class MONDO:0006937 biolink:NamedThing pulpitis Inflammation of the dental pulp. tmpaxzxjjyw_mondo_relaxed.owl dental pulp inflammation|inflammation of dental pulp EFO:1001139|MedDRA:10037463|UMLS:C0034103|SCTID:32620007|DOID:11121|MESH:D011671|ICD9:522.0|ICD10:K04.0|NCIT:C52595 owl:Class SO:0000656 biolink:NamedThing stRNA_encoding A region that can be transcribed into a small temporal RNA (stRNA). Found in roundworm development. tmpaxzxjjyw_mondo_relaxed.owl stRNA encoding owl:Class MONDO:0012264 biolink:NamedThing preeclampsia/eclampsia 2 tmpaxzxjjyw_mondo_relaxed.owl PEE2|PREECLAMPSIA/eclampsia 2 Orphanet:275555|OMIM:609402|UMLS:C1836257 owl:Class MONDO:0009832 biolink:NamedThing pancreatic agenesis Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue. tmpaxzxjjyw_mondo_relaxed.owl pancreatic agenesis type 1|partial pancreatic agenesis|partial agenesis of the pancreas|PAGEN1|pancreatic agenesis 1|congenital pancreatic agenesis SCTID:719044008|ICD10:Q45.0|DOID:0050877|UMLS:C1850096|OMIMPS:260370|OMIM:167755|Orphanet:2805|OMIM:260370|MESH:C564908|OMIM:615935 owl:Class MONDO:0008127 biolink:NamedThing ophthalmomandibulomelic dysplasia Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. tmpaxzxjjyw_mondo_relaxed.owl OMM syndrome|Ophthalmo-mandibulo-melic dysplasia|Pillay syndrome|ophthalmomandibulomelic dysplasia OMIM:164900|Orphanet:2741|MESH:C563501|GARD:0004365|SCTID:715484003|UMLS:C1833872|ICD10:Q87.8 owl:Class GO:1903825 biolink:NamedThing organic acid transmembrane transport The process in which an organic acid is transported across a membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015849 biolink:NamedThing organic acid transport The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000331 biolink:NamedThing Rickettsia helvetica spotted fever A disease caused by infection with Rickettsia helvetica. tmpaxzxjjyw_mondo_relaxed.owl Rickettsia helvetica disease or disorder|Rickettsia helvetica infectious disease|aneruptive fever|Rickettsia helvetica caused disease or disorder|Rickettsia helvetica aneruptive fever DOID:0050484 owl:Class SO:0001019 biolink:NamedThing copy_number_variation A variation that increases or decreases the copy number of a given region. tmpaxzxjjyw_mondo_relaxed.owl CNP|copy number variation|CNV|copy number polymorphism owl:Class MONDO:0004846 biolink:NamedThing placental abruption Vaginal bleeding preceding the 20th week of gestation. tmpaxzxjjyw_mondo_relaxed.owl Abruptio placentae, premature separation of placenta|abruptio placentae|premature separation of placenta|abruptio placenta|placental abruption (disease)|placental abruption placental abruption (disease) SCTID:415105001|MESH:D000037|ICD9:640.03|NCIT:C112857|DOID:9667|ICD9:640.0|HP:0011419|EFO:1001754|NCIT:C26685|ICD9:641.20|ICD10:O20.0 owl:Class MONDO:0005306 biolink:NamedThing ankylosing spondylitis An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine. tmpaxzxjjyw_mondo_relaxed.owl Marie-Strumpell disease|ankylosing spondylarthritis|Bekhterev syndrome|Bekhterev's disease SCTID:9631008|NCIT:C84564|ICD9:720.0|EFO:0003898|Orphanet:825|MESH:D013167|DOID:7147|ICD10:M45 owl:Class MONDO:0005095 biolink:NamedThing spondyloarthropathy A group of inflammatory rheumatic diseases associated with arthritis and enthesitis, and often involving the axial skeleton. The most common form of spondyloarthritis is ankylosing spondylitis. Other forms include axial spondyloarthritis, peripheral spondyloarthritis, reactive arthritis, psoriatic arthritis/spondylitis and enteropathic arthritis/spondylitis. tmpaxzxjjyw_mondo_relaxed.owl spondylarthrosis|spondyloarthritis|spondylarthropathy|spondarthropathy|seronegative spondyloarthropathy DOID:1123|GARD:0004971|NCIT:C116778|EFO:0000706|OMIM:106300|SCTID:372109003 owl:Class MONDO:0030708 biolink:NamedThing Trichomonas cervicitis An cervicitis (disease) caused by infection with Trichomonas vaginalis. tmpaxzxjjyw_mondo_relaxed.owl Trichomonas vaginalis caused cervicitis (disease)|Trichomonas vaginalis cervicitis (disease)|Trichomonas cervicitis NCIT:C35588 owl:Class MONDO:0002345 biolink:NamedThing cervicitis An acute or chronic inflammatory process that affects the cervix. Causes include sexually transmitted diseases and bacterial infections. Clinical manifestations include abnormal vaginal bleeding and vaginal discharge. tmpaxzxjjyw_mondo_relaxed.owl cervicitis (disease)|cervicitis cervicitis (disease) MESH:D002575|NCIT:C26716|SCTID:37610005|DOID:2568|HP:0030160|ICD9:616.0|ICD10:N72 owl:Class GO:0006705 biolink:NamedThing mineralocorticoid biosynthetic process The chemical reactions and pathways resulting in the formation of mineralocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. tmpaxzxjjyw_mondo_relaxed.owl mineralocorticoid formation|mineralocorticoid biosynthesis|mineralocorticoid anabolism|mineralocorticoid synthesis owl:Class GO:0120178 biolink:NamedThing steroid hormone biosynthetic process The chemical reactions and pathways resulting in the formation of any steroid hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0029636 biolink:NamedThing lumbar spinal cord gray matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002315 biolink:NamedThing gray matter of spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019177 biolink:NamedThing odontoleukodystrophy Leukodystrophy with oligodontia is characterised by progressive ataxia beginning during infancy, a pyramidal syndrome and dental agenesis. The syndrome has been described in four children born to consanguineous parents. The mode of transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl dentoleukoencephalopathy|leukodystrophy with oligodontia ICD10:E75.2|GARD:0009632|SCTID:722064003|Orphanet:77295|OMIM:607694 owl:Class GO:0002690 biolink:NamedThing positive regulation of leukocyte chemotaxis Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of leukocyte chemotaxis|positive regulation of leucocyte chemotaxis|upregulation of leukocyte chemotaxis|up regulation of leukocyte chemotaxis|positive regulation of immune cell chemotaxis|activation of leukocyte chemotaxis|stimulation of leukocyte chemotaxis owl:Class UBERON:0004933 biolink:NamedThing submucosa of fundus of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016223 biolink:NamedThing infantile hemangioma of rare localization tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3839613|UMLS:CN226884|SCTID:703270004|Orphanet:210589 Editor note: consider alternate naming owl:Class MONDO:0001850 biolink:NamedThing female breast lower-outer quadrant cancer tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of lower-outer quadrant of female breast DOID:13972|UMLS:C0153553|ICD10:C50.51|SCTID:188155002|ICD9:174.5 owl:Class HP:0012824 biolink:NamedThing Severity The intensity or degree of a manifestation. tmpaxzxjjyw_mondo_relaxed.owl Intensity UMLS:C0522510|SNOMEDCT_US:103370009 Synonymous with PATO:0000049, intensity. peter 2014-06-06T06:39:22Z human_phenotype owl:Class MONDO:0024388 biolink:NamedThing Clostridium infectious disease Infections with bacteria of the genus clostridium. tmpaxzxjjyw_mondo_relaxed.owl infection, Clostridium|Clostridium infection|commensal infection, Clostridium|infections, Clostridium|commensal infections, Clostridium|commensal Clostridium infection EFO:1000874|ICD9:040.89|MESH:D003015|SCTID:56688005 MONDO:0006707 owl:Class MONDO:0021679 biolink:NamedThing gram-positive bacterial infections Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method. tmpaxzxjjyw_mondo_relaxed.owl bacterial infections, Gram-positive|bacterial infection, Gram-positive|infections, Gram Positive bacterial|Gram Positive bacterial infections|Gram-positive bacterial infection|infection, Gram-positive bacterial|bacterial infections, Gram Positive|infections, Gram-positive bacterial SCTID:371582002|MESH:D016908|ICD9:041.89 Editor note: this does not correspond to a taxonomic grouping, so classification is manual for now owl:Class UBERON:0003353 biolink:NamedThing epithelium of hindgut tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:15511 biolink:NamedThing VANGL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0700010 biolink:NamedThing chromosome 3 disorder Chromosomal disorder in which chromosome 3 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class CL:0011115 biolink:NamedThing precursor cell A cell that, by division or terminal differentiation, can give rise to other cell types. tmpaxzxjjyw_mondo_relaxed.owl Work is needed on GO 'cell differentiation' before it is clear whether the equivalent class definition 'native cell' that capable_of some 'cell differentiation' works. Also, may want to consider merging this with non-terminally differentiated cell. owl:Class HGNC:11237 biolink:NamedThing SPG7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002084 biolink:NamedThing heart left ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009953 biolink:NamedThing post-embryonic organism tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016319 biolink:NamedThing congenital insensitivity to pain with hyperhidrosis tmpaxzxjjyw_mondo_relaxed.owl congenital indifference to pain with hyperhidrosis|congenital analgesia with hyperhidrosis|congenital absence of pain with hyperhidrosis ICD10:G90.8|Orphanet:217399 owl:Class MONDO:0015364 biolink:NamedThing hereditary sensory and autonomic neuropathy An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl HSAN|congenital insensitivity to pain|hereditary sensory neuropathy|hereditary sensory peripheral neuropathy|indifference to pain, Congenital, autosomal recessive|CIP|hereditary sensory and autonomic neuropathy|congenital pain insensitivity|hereditary sensory autonomic neuropathy OMIM:162400|ICD9:356.2|DOID:0050548|SCTID:11442006|OMIM:608088|NCIT:C125386|OMIM:613115|OMIM:614116|OMIMPS:162400|OMIM:615548|OMIM:310470|GARD:0012688|Orphanet:140471|OMIM:613708|UMLS:C0027889|ICD10:G60.8|OMIM:256860|OMIM:614213|OMIM:614653|OMIM:613640|OMIM:616488|OMIM:615632|OMIM:608654|MESH:D009477|OMIM:256800|OMIM:201300 familial dysautonomia, type II https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/25 owl:Class GO:2000767 biolink:NamedThing positive regulation of cytoplasmic translation Any process that activates or increases the frequency, rate or extent of cytoplasmic translation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000765 biolink:NamedThing regulation of cytoplasmic translation Any process that modulates the frequency, rate or extent of cytoplasmic translation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004273 biolink:NamedThing cartilaginous joint suture tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003602 biolink:NamedThing intracranial liposarcoma A malignant adipose tissue neoplasm of the intracranial region. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334242|NCIT:C6973|DOID:5714 owl:Class MONDO:0002559 biolink:NamedThing plexiform schwannoma A schwannoma characterized by a plexiform or multinodular growth pattern. It usually arises from the skin or subcutaneous tissues in the extremities, trunk, and head and neck. tmpaxzxjjyw_mondo_relaxed.owl plexiform neurinoma|plexiform neurilemmoma|plexiform schwannoma|plexiform schwannoma (morphologic abnormality) UMLS:C1370659|DOID:3206|SCTID:404025004|NCIT:C6969|ICD9:215.9 owl:Class MONDO:0020490 biolink:NamedThing mosaic trisomy 9 Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl Mosaic trisomy type 9|Mosaic trisomy chromosome 9|trisomy 9 mosaicism ICD10:Q92.1|UMLS:CN035918|MESH:C535454|Orphanet:99776|GARD:0000043|SCTID:764989007 https://rarediseases.info.nih.gov/diseases/43/mosaic-trisomy-9 owl:Class MONDO:0010936 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the CHMP2B gene. tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis, Chmp2B-related|FTD3|Dmt1|frontotemporal dementia, chromosome 3-linked|amyotrophic lateral sclerosis caused by mutation in CHMP2B|CHMP2B amyotrophic lateral sclerosis|CHMP2B-related amyotrophic lateral sclerosis|dementia, familial nonspecific MESH:C579991|DOID:0111227|OMIM:614696|Orphanet:282|UMLS:C1833296|SCTID:702393003|Orphanet:275864|OMIM:600795|Orphanet:803|MESH:C563708|UMLS:C1836076|ICD9:331.19|DOID:0060208 owl:Class MONDO:0018692 biolink:NamedThing variably protease-sensitive prionopathy tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4303527|SCTID:721165001|Orphanet:454742|ICD10:A81.8 owl:Class MONDO:0018926 biolink:NamedThing human prion disease Prion diseases are a group of rare transmissible disorders characterized by progressive debilitating neurological manifestations due to spongiform changes with an invariably fatal course. The disorders all involve accumulation of an abnormal prion protein in the central nervous system with no specific immunological response. Sporadic Creutzfeldt-Jakob disease (CJD) is the most frequent form accounting for about 85% of prion disease cases. The other forms of prion disease are genetic (5-15%) and include inherited CJD, fatal familial insomnia (FFI), and Familial Alzheimer-like prion disease. Acquired forms (< 5%) include iatrogenic CJD and variant CJD (vCDJ). tmpaxzxjjyw_mondo_relaxed.owl TSE|transmissible spongiform encephalopathy ICD10:A81.0|ICD10:A81.9|Orphanet:56970|ICD10:A81.1|ICD10:A81.8 owl:Class GO:0034255 biolink:NamedThing regulation of urea metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving urea. tmpaxzxjjyw_mondo_relaxed.owl regulation of urea metabolism owl:Class GO:0000271 biolink:NamedThing polysaccharide biosynthetic process The chemical reactions and pathways resulting in the formation of a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. tmpaxzxjjyw_mondo_relaxed.owl polysaccharide biosynthesis|polysaccharide formation|polysaccharide synthesis|glycan biosynthesis|glycan biosynthetic process|polysaccharide anabolism owl:Class MONDO:0001282 biolink:NamedThing fallopian tube endometriosis Endometriosis that affects the fallopian tube. Symptoms include infertility, pelvic pain, painful menstruation, and painful intercourse. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube endometriosis (disease)|fallopian tube endometriosis|endometriosis (disease) of fallopian tube|endometriosis of fallopian tube DOID:11424|ICD10:N80.2|NCIT:C26763|ICD9:617.2|SCTID:22611009|UMLS:C0014177 owl:Class MONDO:0032919 biolink:NamedThing intellectual developmental disorder 62 tmpaxzxjjyw_mondo_relaxed.owl Mental Retardation, Autosomal Dominant 62|INTELLECTUAL DEVELOPMENTAL DISORDER 62|MRD62 OMIM:618793 owl:Class MONDO:0018475 biolink:NamedThing PRKAR1B-related neurodegenerative dementia with intermediate filaments tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237461|Orphanet:412066|ICD10:G31.8 owl:Class MONDO:0015547 biolink:NamedThing genetic dementia Genetic dementia. tmpaxzxjjyw_mondo_relaxed.owl genetic dementia Orphanet:158124 owl:Class MONDO:0005601 biolink:NamedThing ovarian mucinous adenocarcinoma An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations. tmpaxzxjjyw_mondo_relaxed.owl mucinous carcinoma of ovary|mucinous adenocarcinoma of the ovary|mucinous carcinoma of the ovary|ovary mucinous adenocarcinoma|ovarian mucinous carcinoma|mucinous adenocarcinoma of ovary|ovarian mucinous adenocarcinoma NCIT:C5243|UMLS:C1335167|DOID:3606|ICD10:C56|EFO:0006462|UMLS:CN205033|Orphanet:398961 owl:Class MONDO:0024282 biolink:NamedThing mucinous ovarian cancer An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. It includes mucinous adenocarcinoma and mucinous adenocarcinofibroma. tmpaxzxjjyw_mondo_relaxed.owl malignant ovarian mucinous tumor|ovarian mucinous neoplasm, malignant|malignant ovarian mucinous neoplasm UMLS:C1518233|ONCOTREE:MOV|NCIT:C40033 owl:Class NCBITaxon:7953 biolink:NamedThing Cyprinidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010377 biolink:NamedThing myopia 13, X-linked tmpaxzxjjyw_mondo_relaxed.owl myopia 13, X-linked|MYP13 MESH:C564473|UMLS:C1845096|OMIM:300613 owl:Class UBERON:0009122 biolink:NamedThing adenohypophyseal placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002546 biolink:NamedThing cranial placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004117 biolink:NamedThing ampulla of vater small cell neuroendocrine carcinoma An aggressive neuroendocrine carcinoma arising from the ampulla of Vater and the periampullary region. Morphologically, it is characterized by the presence of small malignant cells, necrosis, and a high mitotic rate. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. tmpaxzxjjyw_mondo_relaxed.owl ampulla of Vater small cell neuroendocrine carcinoma|small cell neuroendocrine carcinoma of the ampullary region|ampulla of Vater small cell NEC|hepatopancreatic ampulla small cell carcinoma|ampullary small cell carcinoma|ampulla of Vater small cell carcinoma NCIT:C6655|UMLS:C1332250|DOID:7136 owl:Class UBERON:0005906 biolink:NamedThing serous sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007820 biolink:NamedThing fused mandibular incisors Fused manidbular incisors is an extremely rare dental anomaly that is characterized by the union of two, normally separated, incisor tooth germs of the primary dentition. It is frequently associated with hypodontia and an increased risk of pulp exposure. tmpaxzxjjyw_mondo_relaxed.owl 'Double Tooth'|incisors, FUSED mandibular|Double tooth Orphanet:2287|UMLS:CN201433|SCTID:707796002|OMIM:147251|GARD:0002419|ICD10:K00.2 https://rarediseases.info.nih.gov/diseases/2419/fused-mandibular-incisors owl:Class GO:0032768 biolink:NamedThing regulation of monooxygenase activity Any process that modulates the activity of a monooxygenase. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000301 biolink:NamedThing Abnormality of facial musculature An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). tmpaxzxjjyw_mondo_relaxed.owl Facial muscle issue|Abnormality of facial muscles UMLS:C4025865 Facial muscles control facial expression and are innervated by the seventh cranial nerve. Facial muscles around the eye are responsible for eye blink and eyelid closure. human_phenotype owl:Class MONDO:0032633 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 29 tmpaxzxjjyw_mondo_relaxed.owl MC1DN29|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 OMIM:618250 owl:Class MONDO:0017510 biolink:NamedThing adactyly of foot, bilateral tmpaxzxjjyw_mondo_relaxed.owl congenital absence of toes, bilateral ICD10:Q72.8|Orphanet:295118 owl:Class MONDO:0018563 biolink:NamedThing adactyly of foot tmpaxzxjjyw_mondo_relaxed.owl congenital absence of toes Orphanet:435623|SCTID:66345008|ICD10:Q72.8 owl:Class MONDO:0021896 biolink:NamedThing anterior spinal artery stroke tmpaxzxjjyw_mondo_relaxed.owl GARD:0009653|MESH:C537776|UMLS:C2931608 https://rarediseases.info.nih.gov/diseases/9653/anterior-spinal-artery-stroke owl:Class MONDO:0020688 biolink:NamedThing spinal cord ischemia Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with arteriosclerosis, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to infarction of spinal cord tissue. tmpaxzxjjyw_mondo_relaxed.owl ischemic myelopathy|ischemia, spinal cord|ischemic myelopathies|ischemias, spinal cord|myelopathies, ischemic|myelopathy, ischemic|cord ischemia, spinal|spinal cord Ischemias|experimental spinal cord ischemia|spinal cord ischemia, experimental|cord Ischemias, spinal MESH:D020760 owl:Class MONDO:0044315 biolink:NamedThing craniosynostosis 7 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100). tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis 7|CRS7|Crs7, digenic|craniosynostosis 7, digenic OMIM:617439|UMLS:C4479496 owl:Class MONDO:0016399 biolink:NamedThing amino acid or protein metabolism disease with epilepsy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN201330|Orphanet:225689 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class UBERON:0005153 biolink:NamedThing epithelial bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005157 biolink:NamedThing epithelial fold tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0009025 biolink:NamedThing mesothelial cell of colon A mesothelial cell that is part of the colon. tmpaxzxjjyw_mondo_relaxed.owl mesothelial cell of large intestine owl:Class MONDO:0010423 biolink:NamedThing hypospadias 2, X-linked tmpaxzxjjyw_mondo_relaxed.owl hypospadias 2, X-linked|HYSP2 Orphanet:440|UMLS:C2677879|OMIM:300758|MESH:C567462 owl:Class MONDO:0021634 biolink:NamedThing epithelial skin neoplasm A epithelial neoplasm that involves the zone of skin. tmpaxzxjjyw_mondo_relaxed.owl skin epithelium tumor|epithelial skin tumor|epithelial skin neoplasm|skin epithelium neoplasm|zone of skin epithelial neoplasm UMLS:C0345976|NCIT:C7342 owl:Class GO:0002832 biolink:NamedThing negative regulation of response to biotic stimulus Any process that stops, prevents, or reduces the frequency, rate, or extent of a response to biotic stimulus. tmpaxzxjjyw_mondo_relaxed.owl down regulation of response to biotic stimulus|inhibition of response to biotic stimulus|down-regulation of response to biotic stimulus|downregulation of response to biotic stimulus owl:Class GO:0048585 biolink:NamedThing negative regulation of response to stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. tmpaxzxjjyw_mondo_relaxed.owl inhibition of response to stimulus|downregulation of response to stimulus|down-regulation of response to stimulus|down regulation of response to stimulus owl:Class MONDO:0019633 biolink:NamedThing relapsing fever Relapsing fever is an infection caused by bacteria of the genus Borrelia, excluding those responsible for Lyme disease belonging to the Borrelia burgdorferi complex. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:91547|ICD9:087|ICD10:A68.9|MedDRA:10038300|SCTID:420079008|DOID:13034|ICD10:A68|UMLS:C0035021|ICD10:A68.0|MESH:D012061|ICD10:A68.1|ICD9:087.9 owl:Class MONDO:0006681 biolink:NamedThing Borrelia infectious disease Infections with bacteria of the genus borrelia. tmpaxzxjjyw_mondo_relaxed.owl Borrelia caused disease or disorder|Borrelia disease or disorder MESH:D001899|MedDRA:10061591|UMLS:C0006035|EFO:1000842 owl:Class MONDO:0005067 biolink:NamedThing monophasic synovial sarcoma A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only. tmpaxzxjjyw_mondo_relaxed.owl monophasic sarcoma of the synovium|monophasic synovial sarcoma|monophasic sarcoma of synovium NCIT:C6534|DOID:5495|UMLS:C1334801|EFO:0000595 owl:Class MONDO:0009461 biolink:NamedThing male infertility due to large-headed multiflagellar polyploid spermatozoa Male infertility due to large-headed multiflagellar polypoid spermatozoa is a male infertility due to sperm disorder characterized by the presence, in sperm, of a very high percentage of spermatozoa with enlarged head, irregular head shape, multiple flagella, and abnormal midpiece and acrosome. It is generally associated with severe oligoasthenozoospermia and a high rate of sperm chromosomal abnormalities (polyploidy, aneuploidy). tmpaxzxjjyw_mondo_relaxed.owl macrozoospermia|SPGF5|spermatogenic failure type 5|spermatogenic failure 5|infertility associated with multi-tailed spermatozoa and excessive DNA|Male infertility with large-headed, multiflagellar, polyploid spermatozoa|Male infertility due to macrozoospermia|infertility associated with Multitailed spermatozoa and excessive DNA|macrocephalic sperm head syndrome GARD:0012385|OMIM:243060|ICD10:N46|SCTID:236806004|UMLS:C0403812|Orphanet:399808|Orphanet:137893|MESH:C562903|DOID:0070183 owl:Class MONDO:0018394 biolink:NamedThing male infertility with teratozoospermia due to single gene mutation Male infertility with teratozoospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the presence of spermatozoa with abnormal morphology, such as macrozoospermia or globozoospermia, in over 85% of sperm, resulting from mutation in a single gene known to cause teratozoospermia. It is a heterogeneous group that includes a wide range of abnormal sperm phenotypes affecting, solely or simultaneously, head, neck, midpiece, and/or tail. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:399808|OMIM:613958|GARD:0012514|UMLS:CN252642|OMIM:102530|SCTID:764096006|OMIM:243060|ICD10:N46|OMIM:615413 owl:Class MONDO:0003563 biolink:NamedThing diffuse pulmonary fibrosis Diffuse replacement of the lung tissue by connective tissue. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27216|UMLS:C0865849|DOID:5641 owl:Class MONDO:0004700 biolink:NamedThing parotid gland cancer A primary or metastatic malignant neoplasm involving the parotid gland. Representative examples include carcinoma, malignant mixed tumor, and non-Hodgkin lymphoma. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the parotid|cancer of the parotid gland|malignant neoplasm of parotid gland|malignant parotid gland neoplasm|cancer of parotid|malignant tumor of the parotid|malignant parotid gland tumor|cancer of the parotid|malignant tumor of parotid gland|malignant parotid neoplasm|parotid cancer|malignant neoplasm of the parotid gland|malignant tumor of the parotid gland|malignant parotid tumor|malignant tumor of parotid|malignant neoplasm of parotid|cancer of parotid gland|parotid gland cancer UMLS:C0747273|MESH:D010307|SCTID:363379000|DOID:9036|NCIT:C3525|ICD9:142.0|ICD10:C07 owl:Class MONDO:0006752 biolink:NamedThing Erysipelothrix rhusiopathiae infectious disease A disease caused by infection with Erysipelothrix rhusiopathiae. tmpaxzxjjyw_mondo_relaxed.owl Erysipelothrix rhusiopathiae caused disease or disorder|Erysipelothrix rhusiopathiae disease or disorder EFO:1000928|MESH:D004887 owl:Class MONDO:0016855 biolink:NamedThing Mowat-Wilson syndrome due to monosomy 2q22 tmpaxzxjjyw_mondo_relaxed.owl Mowat-Wilson syndrome due to monosomy type 2q22|Mowat-Wilson syndrome due to 2q22 microdeletion|Hirschsprung disease and intellectual disability due to 2q22 microdeletion|Hirschsprung disease and intellectual disability due to monosomy 2q22|Mowat-Wilson syndrome due to del(2)q(22)|Hirschsprung disease and intellectual disability due to del(2)(q22) Orphanet:261537|UMLS:CN202198|ICD10:Q43.1 owl:Class MONDO:0016616 biolink:NamedThing oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies tmpaxzxjjyw_mondo_relaxed.owl oligoarticular JIA without anti-nuclear antibodies|pauciarticular chronic arthritis without anti-nuclear antibodies Orphanet:247846|UMLS:CN201824|ICD10:M08.4 owl:Class UBERON:0003296 biolink:NamedThing gland of diencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044983 biolink:NamedThing benign lipomatous neoplasm A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of adipose tissue|benign tumor of the adipose tissue|benign neoplasm of the adipose tissue|benign adipose tissue neoplasm|benign tumor of adipose tissue|benign connective and soft tissue neoplasm of adipose tissue|benign adipose tissue tumor|adipose tissue benign connective and soft tissue neoplasm|benign lipomatous neoplasm|benign lipomatous tumor NCIT:C4502 owl:Class MONDO:0015234 biolink:NamedThing arachnodactyly-abnormal ossification-intellectual disability syndrome Arachnodactyly - abnormal ossification - intellectual disability is a multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl arachnodactyly, abnormal ossification and intellectual disability|Kosztolanyi syndrome|arachnodactyly, abnormal ossification and mental retardation Orphanet:1129|UMLS:C2931398|ICD10:Q87.8|SCTID:720501007|GARD:0000381|MESH:C537024 owl:Class MONDO:0016925 biolink:NamedThing partial trisomy/tetrasomy of chromosome 5 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy/tetrasomy of chromosome type 5|partial duplication/triplication of chromosome 5 Orphanet:262211 owl:Class MONDO:0013979 biolink:NamedThing primary ciliary dyskinesia 19 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the LRRC6 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia 19|ciliary dyskinesia, primary, 19, with or without situs inversus|LRRC6 primary ciliary dyskinesia|CILD19|primary ciliary dyskinesia caused by mutation in LRRC6|ciliary dyskinesia, primary, 19|primary ciliary dyskinesia type 19|ciliary dyskinesia, primary, type 19|primary ciliary dyskinesia 19 with or without situs inversus UMLS:C3543826|ICD10:Q34.8|OMIM:614935|DOID:0110608 owl:Class CHEBI:25558 biolink:NamedThing organonitrogen heterocyclic antibiotic tmpaxzxjjyw_mondo_relaxed.owl organonitrogen heterocyclic antibiotics owl:Class CHEBI:24531 biolink:NamedThing heterocyclic antibiotic tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010726 biolink:NamedThing Rett syndrome Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl Rett's disorder|Rett syndrome, atypical|autism, dementia, ataxia, and loss of purposeful hand use|Rett syndrome, preserved speech variant|Rts|RTT|cerebroatrophic hyperammonemia|Rett syndrome, Zappella variant|Rett syndrome OMIM:613454|UMLS:C2748910|UMLS:C0035372|ICD10:F84.2|GARD:0005696|OMIM:312750|NCIT:C75488|DOID:1206|Orphanet:778|ICD9:330.8|MedDRA:10039000|MESH:D015518|SCTID:68618008|Orphanet:3095 owl:Class MONDO:0017656 biolink:NamedThing motor stereotypies tmpaxzxjjyw_mondo_relaxed.owl Orphanet:306765 owl:Class CHEBI:33267 biolink:NamedThing elemental nitrogen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001146 biolink:NamedThing fourth cranial nerve palsy A cranial nerve palsy that involves the trochlear nerve. tmpaxzxjjyw_mondo_relaxed.owl cranial nerve palsy of trochlear nerve|fourth nerve palsy|fourth or trochlear nerve palsy|trochlear nerve cranial nerve palsy ICD9:378.53|SCTID:20610004|DOID:10869 owl:Class MONDO:0011939 biolink:NamedThing Spondyloenchondrodysplasia with immune dysregulation tmpaxzxjjyw_mondo_relaxed.owl SPENCDI|spondyloenchondromatosis|Spondyloenchondrodysplasia with immune dysregulation|spondyloenchondrodysplasia with immune dysregulation|SEM|spondylometaphyseal dysplasia with combined immunodeficiency|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|Roifman Immunoskeletal syndrome|spondyloenchondrodysplasia|spondylometaphyseal dysplasia with enchondromatous changes|SPENCD OMIM:271550|GARD:0004978|Orphanet:1855|ICD10:Q77.7|Orphanet:50816|ICD9:756.9|OMIM:607944|MESH:C564307|UMLS:C1842763|SCTID:703523004|EFO:0002326|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/4978/spondyloenchondrodysplasia owl:Class MONDO:0010815 biolink:NamedThing spondyloepiphyseal dysplasia tarda with characteristic facies tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia tarda with characteristic facies UMLS:C1838653|OMIM:600093|MESH:C564003 owl:Class UBERON:0003559 biolink:NamedThing hindbrain arachnoid mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017794 biolink:NamedThing Xq12-q13.3 duplication syndrome Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients. tmpaxzxjjyw_mondo_relaxed.owl dup(X)(q12-q13.3) Orphanet:314389|ICD10:Q99.8|UMLS:CN203749|SCTID:764711007 owl:Class MONDO:0004749 biolink:NamedThing myocardium cancer A malignant neoplasm involving the myocardium. tmpaxzxjjyw_mondo_relaxed.owl malignant myocardial neoplasm|malignant neoplasm of the myocardium|malignant tumor of myocardium|malignant neoplasm of myocardium|malignant myocardial tumor|cancer of myocardium|tumor of myocardium|myocardium cancer|malignant myocardium neoplasm|malignant tumor of the myocardium NCIT:C5349|DOID:9299|UMLS:C1290402|UMLS:C0346611|NCIT:C4569|SCTID:126732009 owl:Class CHEBI:22723 biolink:NamedThing benzoic acids Any aromatic carboxylic acid that consists of benzene in which at least a single hydrogen has been substituted by a carboxy group. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33859 biolink:NamedThing aromatic carboxylic acid Any carboxylic acid in which the carboxy group is directly bonded to an aromatic ring. tmpaxzxjjyw_mondo_relaxed.owl aromatic carboxylic acids owl:Class GO:0010817 biolink:NamedThing regulation of hormone levels Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003835 biolink:NamedThing abdominal segment blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007432 biolink:NamedThing cerebral arteriopathy with subcortical infarcts and leukoencephalopathy tmpaxzxjjyw_mondo_relaxed.owl cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy|cerebral arteriopathy with subcortical infaracts and leukoencephalopathy|cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|dementia, hereditary multi-infarct type|Casil|CADASIL OMIMPS:125310|Orphanet:136|DOID:13945|ICD9:323.9|ICD9:447.8 owl:Class MONDO:0020144 biolink:NamedThing cerebrovascular dementia tmpaxzxjjyw_mondo_relaxed.owl rare cerebrovascular dementia Orphanet:98549 owl:Class MONDO:0006687 biolink:NamedThing burning mouth syndrome A condition characterized by a burning or tingling sensation on the lips, tongue, or entire mouth. tmpaxzxjjyw_mondo_relaxed.owl stomatodynia|oral dysesthesia|Orodynia|BMS|Stomatopyrosis UMLS:C0006430|UMLS:CN242089|SCTID:399165002|MedDRA:10068065|NCIT:C62545|GARD:0005974|ICD10:K14.6|Orphanet:353253|EFO:1000850|UMLS:C2930806|MESH:D002054|DOID:4331 owl:Class MONDO:0032854 biolink:NamedThing zimmermann-laband syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl ZIMMERMANN-LABAND SYNDROME 3|ZLS3 OMIM:618658 owl:Class MONDO:0013017 biolink:NamedThing hypotrichosis 5 A hypotrichosis that has material basis in a mutation on chromosome 1p21.1-q21.3. tmpaxzxjjyw_mondo_relaxed.owl Marie Unna hereditary hypotrichosis 2|hypotrichosis 5|Muhh2|hypotrichosis type 5|HYPT5|hypt5 DOID:0110702|OMIM:612841|Orphanet:444|UMLS:C2748535|MESH:C567554 owl:Class MONDO:0018385 biolink:NamedThing osteochondrosis of genetic origin An instance of osteochondrosis that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic osteochondrosis ICD10:M93.9|Orphanet:399391 owl:Class MONDO:0018381 biolink:NamedThing osteochondrosis A condition that is characterized by defective bone growth that affects the growth centers of bone. tmpaxzxjjyw_mondo_relaxed.owl apophysitis|osteochondritis|epiphyseal necrosis|epiphysitis|osteochondrosis not specified as adult or juvenile, of unspecified site|osteochondritis juvenilis DOID:8125|ICD9:732.6|NCIT:C34879|GARD:0012704|ICD10:M42|EFO:0008575|ICD10:M92|MESH:D055034|Orphanet:399319|ICD10:M93.9|SCTID:19579005|UMLS:C0029429 https://rarediseases.info.nih.gov/diseases/12704/osteochondrosis owl:Class MONDO:0006677 biolink:NamedThing bile reflux Retrograde bile flow. Reflux of bile can be from the duodenum to the stomach (duodenogastric reflux); to the esophagus (gastroesophageal reflux); or to the pancreas. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0005403|EFO:1000838|DOID:12237|MESH:D001655 owl:Class MONDO:0012124 biolink:NamedThing sudden infant death-dysgenesis of the testes syndrome Sudden infant death with dysgenesis of the testes (SIDDT) syndrome is a lethal condition in infants with dysgenesis of testes. tmpaxzxjjyw_mondo_relaxed.owl SIDDT|sudden infant death - dysgenesis of the testes|sudden infant death with dysgenesis of the testes syndrome OMIM:608800|GARD:0012382|ICD10:G90.8|UMLS:C1837371|MESH:C563856|Orphanet:168593 owl:Class UBERON:0018257 biolink:NamedThing submucosa of digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018129 biolink:NamedThing autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia with late-onset spasticity is a rare, genetic neurodegenerative disease characterized by childhood or adolescent-onset of cerebellar ataxia with dysarthria which slowly progresses and associates pyramidal signs, including lower limb spasticity, brisk reflexes, and Babinski and Hoffman signs. Patients typically present cerebellar ataxia with development of increasing asymmetric spasticity in upper and lower limbs, and variable axonal sensory or sensorimotor neuropathy. Additional heterogeneous features, including pes cavus, scoliolis, and abnormalities of the brain (e.g. cerebral atrophy), may also be associated. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive cerebellar ataxia due to GBA2 deficiency Orphanet:352641|UMLS:CN204507|SCTID:763348005|ICD10:G11.8 owl:Class UBERON:0006218 biolink:NamedThing common atrial chamber tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012282 biolink:NamedThing mammary fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010031 biolink:NamedThing Sjogren-Larsson syndrome A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity. tmpaxzxjjyw_mondo_relaxed.owl FAO deficiency|Sjogren-Larsson's syndrome|Sjogren Larsson syndrome|Sjögren-Larsson syndrome|fatty alcohol:NAD+ oxidoreductase deficiency|SLS|fatty aldehyde dehydrogenase deficiency|ichthyosis, spastic neurologic disorder, and oligophrenia|FADH deficiency|Sjogren-Larsson syndrome|fatty acid alcohol oxidoreductase deficiency|FALDH deficiency EFO:0007031|Orphanet:816|MedDRA:10048676|SCTID:111303009|GARD:0007654|MESH:D016111|ICD10:Q87.1|OMIM:270200|UMLS:C0037231|NCIT:C85070|DOID:14501 https://rarediseases.info.nih.gov/diseases/7654/sjogren-larsson-syndrome owl:Class MONDO:0003473 biolink:NamedThing spinal cord ependymoma An ependymoma that arises from the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl ependymoma of the spinal cord|ependymal neoplasm of the spinal cord|spinal cord ependymoma|ependymoma of spinal cord UMLS:C0238432|SCTID:254949006|NCIT:C3875|DOID:5503 MONDO:0021544 owl:Class MONDO:0021191 biolink:NamedThing malignant ependymoma A malignant form of ependymoma. tmpaxzxjjyw_mondo_relaxed.owl ependymal tumors|ependymoma, malignant UMLS_CUI:C1333407|DOID:5074 owl:Class GO:0055065 biolink:NamedThing metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048582 biolink:NamedThing positive regulation of post-embryonic development Any process that activates or increases the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of post-embryonic development|activation of post-embryonic development|upregulation of post-embryonic development|stimulation of post-embryonic development|up regulation of post-embryonic development owl:Class MONDO:0005350 biolink:NamedThing abdominal aortic aneurysm Enlargement and ballooning of the vessel that supplies arterial blood to the abdomen, pelvis and legs. tmpaxzxjjyw_mondo_relaxed.owl aortic aneurysm, familial abdominal 1 NCIT:C27000|EFO:0004214|OMIM:611891|OMIM:609782|OMIM:614375|OMIM:100070|SCTID:233985008|UMLS:C0162871|DOID:7693|MESH:D017544 owl:Class MONDO:0005160 biolink:NamedThing aortic aneurysm A ruptured aneurysm located in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. tmpaxzxjjyw_mondo_relaxed.owl thoracic aortic aneurysm, ruptured|aortic aneurysm of unspecified site, ruptured|thoracic aortic aneurysm which HAS ruptured|ruptured thoracoabdominal aortic aneurysm|aortic aneurysm (disease)|thoracoabdominal aortic aneurysm, ruptured|aortic aneurysm|ruptured abdominal aortic aneurysm|ruptured thoracic aneurysm|ruptured aortic aneurysm|abdominal aortic aneurysm, ruptured|ruptured thoracic aortic aneurysm aortic aneurysm (disease) SCTID:73067008|ICD9:441.5|HP:0004942|NCIT:C27046|ICD10:I71.5|UMLS:C0265012|OMIM:607086|ICD10:I71.3|UMLS:C0003486|EFO:0001666|NCIT:C26697|ICD10:I71.1|ICD9:441.1|UMLS:C0265010|UMLS:C1305122|NCIT:C27299|DOID:3627|ICD10:I71.9|NCIT:C27198|ICD9:441.6|MP:0006278|UMLS:C0741160|ICD10:I71.8|ICD9:441.3 owl:Class MONDO:0002776 biolink:NamedThing external ear disorder A disease involving the external ear. tmpaxzxjjyw_mondo_relaxed.owl preauricular cyst (disorder)|disease or disorder of external ear|external ear disorder|preauricular sinus and fistula (disorder)|disease of external ear|preauricular sinus or fistula NOS (disorder)|preauricular sinus or fistula|preauricular cyst|external ear disease or disorder|preauricular sinus and fistula|external ear disease|disorder of external ear SCTID:49130001|ICD10:H61.9|ICD9:380.9|DOID:379|UMLS:C0155388|NCIT:C26972|ICD9:744.47|ICD10:H60.H62|ICD10:H60-H62|ICD9:380 owl:Class MONDO:0019636 biolink:NamedThing renal agenesis, unilateral Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter. tmpaxzxjjyw_mondo_relaxed.owl congenital solitary kidney|unilateral renal agenesis|congenital single kidney UMLS:C0266294|Orphanet:93100|MedDRA:10053624|NCIT:C101220|ICD10:Q60.0 owl:Class MONDO:0016289 biolink:NamedThing malignant germ cell tumor of cervix uteri A malignant germ cell tumor that involves the uterine cervix. tmpaxzxjjyw_mondo_relaxed.owl germ cell cancer of the cervix uteri|malignant germ cell tumor of the cervix uteri|cervical germ cell cancer|uterine cervix malignant germ cell tumor|germ cell cancer of cervix uteri|cervical malignant germ cell tumor UMLS:CN201079|ICD10:C53.1|Orphanet:213837|ICD10:C53.8|ICD10:C53.0 owl:Class MONDO:0006290 biolink:NamedThing malignant germ cell tumor A gonadal or extragonadal malignant neoplasm that arises from germ cells. Representative examples include embryonal carcinoma, yolk sac tumor, and seminoma. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of germ cell|malignant germ cell tumor|germ cell cancer|malignant tumor of the germ cell|malignant neoplasm of germ cell|cancer of germ cell|germ cell tumor, malignant|malignant neoplasm of the germ cell|malignant germ cell neoplasm UMLS:C4048549|EFO:1000352|NCIT:C4925|SCTID:145831000119103|GARD:0003360 owl:Class NCBITaxon:116926 biolink:NamedThing Philophthalmidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:404429 biolink:NamedThing Echinostomatoidea tmpaxzxjjyw_mondo_relaxed.owl Fascioloidea|Cyclocoeloidea GC_ID:1 NCBITaxon:27842 ncbi_taxonomy owl:Class HGNC:1382 biolink:NamedThing CA8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020756 biolink:NamedThing migraine, familial hemiplegic, 1 tmpaxzxjjyw_mondo_relaxed.owl migraine, familial hemiplegic, 1|migraine, familial hemiplegic, type 1|hemiplegic migraine, familial type 1|FHM1|migraine, familial hemiplegic 1, with progressive cerebellar ataxia|migraine, sporadic hemiplegic|MHP1|familial hemiplegic migraine type 1 DOID:0111181|GARD:0002638|OMIM:141500 owl:Class MONDO:0000700 biolink:NamedThing familial hemiplegic migraine A migraine disorder characterized by individual and family history of aura that includes motor weakness. tmpaxzxjjyw_mondo_relaxed.owl FHM|familial hemiplegic migraine|hereditary hemiplegic migraine|hemiplegic migraine, familial|hemiplegic-ophthalmoplegic migraine SCTID:95656000|ICD10:G43.8|NCIT:C117009|Orphanet:569|OMIMPS:141500|DOID:0060178|OMIM:141500|OMIM:602481|OMIM:300125|GARD:0010975|OMIM:607516|OMIM:609634|ICD9:346.8 owl:Class GO:0001818 biolink:NamedThing negative regulation of cytokine production Any process that stops, prevents, or reduces the rate of production of a cytokine. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cytokine formation|down-regulation of cytokine production|downregulation of cytokine biosynthetic process|down-regulation of cytokine biosynthetic process|inhibition of cytokine biosynthetic process|inhibition of cytokine production|negative regulation of cytokine biosynthetic process|negative regulation of cytokine biosynthesis|down regulation of cytokine production|negative regulation of cytokine synthesis|negative regulation of cytokine anabolism|negative regulation of cytokine secretion|down regulation of cytokine biosynthetic process|downregulation of cytokine production owl:Class MONDO:0000119 biolink:NamedThing congenital heart defects, multiple types tmpaxzxjjyw_mondo_relaxed.owl CHTD Genetic heterogeneity of OMIM 306955 which includes CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED lists 614980, 614954 and 615779 as forms of this disease. owl:Class HP:0012532 biolink:NamedThing Chronic pain Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. tmpaxzxjjyw_mondo_relaxed.owl Chronic pain|Long-lasting pain UMLS:C0150055|MSH:D059350|SNOMEDCT_US:82423001 Acute pain is provoked by a specific disease or injury, serves a useful biologic purpose, is associated with skeletal muscle spasm and sympathetic nervous system activation, and is self-limited. Chronic pain, in contrast, may be considered a disease state. It is pain that outlasts the normal time of healing. peter 2013-12-15T09:46:55Z human_phenotype owl:Class GO:0006547 biolink:NamedThing histidine metabolic process The chemical reactions and pathways involving histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid. tmpaxzxjjyw_mondo_relaxed.owl histidine metabolism owl:Class MONDO:0004077 biolink:NamedThing lumbosacral lipoma A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within the lumbosacral tissue of the spine. tmpaxzxjjyw_mondo_relaxed.owl lipoma of sacral region of vertebral column|sacral region of vertebral column lipoma UMLS:C1334438|NCIT:C6500|DOID:7017 owl:Class MONDO:0001820 biolink:NamedThing focal labyrinthitis A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. tmpaxzxjjyw_mondo_relaxed.owl circumscribed labyrinthitis DOID:13867|UMLS:C0155505|ICD9:386.32|SCTID:61794006 owl:Class MONDO:0020857 biolink:NamedThing ovarian dysgenesis 7 tmpaxzxjjyw_mondo_relaxed.owl ODG7|OVARIAN DYSGENESIS 7 OMIM:618117|DOID:0080499 owl:Class MONDO:0009299 biolink:NamedThing 46 XX gonadal dysgenesis 46,XX gonadal dysgenesis (46,XX GD) is a primary ovarian defect leading to premature ovarian failure (POF) in otherwise normal 46,XX females as a result of failure of the gonads to develop or due to resistance to gonadotrophin stimulation. tmpaxzxjjyw_mondo_relaxed.owl 46,XX gonadal dysgenesis|XX-GD|46,XX complete gonadal dysgenesis|46,XX pure gonadal dysgenesis|follicular stimulating hormone-resistant ovaries|XX gonadal dysgenesis|46,XX ovarian dysgenesis|FSH-RO|ovarian dysgenesis|XX female gonadal dysgenesis|hypergonadotropic ovarian dysgenesis OMIM:233300|OMIMPS:233300|ICD10:Q99.1|OMIM:611812|Orphanet:243|OMIM:300833|DOID:14450|OMIM:278850|OMIM:614324|MESH:D023961|SCTID:95198001|OMIM:400045|UMLS:C0949595|NCIT:C120197|OMIM:300510 owl:Class MONDO:0018734 biolink:NamedThing verrucous hemangioma A skin hemangioma characterized by the presence of epidermal hyperplasia. tmpaxzxjjyw_mondo_relaxed.owl verrucous keratotic hemangioma|verrucous keratotic hemangioma (morphologic abnormality) DOID:470|UMLS:C0334540|NCIT:C4299|ICDO:9142/0|Orphanet:464318|UMLS:CN242156|ICD10:D18.0 owl:Class MONDO:0003110 biolink:NamedThing skin hemangioma A hemangioma arising from the skin. tmpaxzxjjyw_mondo_relaxed.owl skin angioma|angiomatous naevus of skin|hemangioma of zone of skin|angioma of the skin|angioma of skin|zone of skin hemangioma|skin hemangioma|hemangioma of skin|hemangioma of the skin SCTID:93471006|NCIT:C4905|DOID:471|UMLS:C0687140 owl:Class MONDO:0014139 biolink:NamedThing Ehlers-Danlos syndrome, spondylodysplastic type, 2 Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene. tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, progeroid type, 2|Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6|B3GALT6 Ehlers-Danlos syndrome progeroid type|Ehlers-Danlos syndrome, spondylodysplastic type, 2|EDSP2|Ehlers-Danlos syndrome, progeroid type, 2, formerly|EDSSPD2 OMIM:615349|Orphanet:75496|UMLS:C3809210 owl:Class MONDO:0017871 biolink:NamedThing bilateral massive adrenal hemorrhage tmpaxzxjjyw_mondo_relaxed.owl BMAH|bilateral adrenal hemorrhage ICD10:E27.4|Orphanet:319205|UMLS:CN203920 owl:Class MONDO:0019801 biolink:NamedThing acute adrenal insufficiency Acute adrenal insufficiency (AAI) is a rare but severe condition caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. tmpaxzxjjyw_mondo_relaxed.owl Addisonian crisis|adrenal crisis|acute adrenal failure|acute adrenocortical insufficiency|adrenocortical crisis ICD10:E27.2|NCIT:C112840|UMLS:C0151467|SCTID:24867002|ICD9:255.41|Orphanet:95409 owl:Class MONDO:0010632 biolink:NamedThing developmental and epileptic encephalopathy, 1 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene. tmpaxzxjjyw_mondo_relaxed.owl infantile epileptic-dyskinetic encephalopathy|infantile spasm syndrome, X-linked 1|arx early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 1|EIEE1|DEE1|XMESID|Ohtahara syndrome, X-linked|early infantile epileptic encephalopathy caused by mutation in ARX|ARX early infantile epileptic encephalopathy|West syndrome, X-linked|early infantile epileptic encephalopathy caused by mutation in arx|epileptic encephalopathy, early infantile, type 1 UMLS:C3463992|DOID:0080468|OMIM:308350 owl:Class MONDO:0002735 biolink:NamedThing anal canal adenocarcinoma An anal adenocarcinoma arising from the anal canal mucosa. Morphologically, it resembles the adenocarcinoma which arises from the colorectal glandular epithelium. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of the anal canal|anal canal adenocarcinoma|adenocarcinoma arising in anal mucosa|anal canal adenocarcinoma (disease)|adenocarcinoma of anal canal|adenocarcinoma arising in the anal mucosa anal canal adenocarcinoma (disease) NCIT:C7471|SCTID:764845008|ICD10:C21.1|UMLS:C1332259|Orphanet:424016|DOID:3692|HP:0030439 owl:Class MONDO:0002652 biolink:NamedThing anus adenocarcinoma An adenocarcinoma arising in the anal canal epithelium, including the mucosal surface, the anal glands, and the lining of fistulous tracts. The prognosis is related to the stage at diagnosis. tmpaxzxjjyw_mondo_relaxed.owl anus adenocarcinoma|adenocarcinoma of the anus|adenocarcinoma of anus|anal adenocarcinoma DOID:3447|SCTID:423607006|NCIT:C5600|UMLS:C1332257 owl:Class ECTO:9001699 biolink:NamedThing exposure to fuel An exposure to fuel. tmpaxzxjjyw_mondo_relaxed.owl exposure to fuel owl:Class MONDO:0001160 biolink:NamedThing dissociative disorder A category of psychiatric disorders which are characterized by a disruption in the usually integrated functions of consciousness, memory, identity, and/or perception of the environment. tmpaxzxjjyw_mondo_relaxed.owl dissociative reaction|dissociative disease ICD10:F44.9|NCIT:C92197|ICD9:300.15|DOID:10935|MESH:D004213|ICD9:300.9|ICD10:F48.9 owl:Class MONDO:0004733 biolink:NamedThing pyriform sinus cancer A primary or metastatic malignant neoplasm that affects the pyriform sinus. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of pyriform fossa|malignant neoplasm of pyriform sinus|malignant tumor of pyriform sinus|malignant pyriform sinus neoplasm|malignant tumor of the pyriform sinus|malignant pyriform fossa tumor|malignant neoplasm of pyriform fossa|malignant neoplasm of the pyriform sinus|malignant pyriform fossa neoplasm|malignant neoplasm of the pyriform fossa|malignant pyriform sinus tumor|malignant tumor of the pyriform fossa DOID:9235|NCIT:C3531|UMLS:C0153400|ICD10:C12|SCTID:363401000|ICD9:148.1 owl:Class MONDO:0005806 biolink:NamedThing hypopharynx cancer A primary or metastatic malignant neoplasm that affects the hypopharynx. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of the hypopharynx|malignant neoplasm of ill-defined sites within the lip and oral cavity|malignant neoplasm of hypopharynx|malignant neoplasm of posterior hypopharyngeal wall|malignant tumor of posterior wall of hypopharynx|malignant hypopharyngeal neoplasm|malignant tumor of hypopharynx|hypopharyngeal cancer|malignant neoplasm of other specified hypopharyngeal site|malignant neoplasm of the hypopharynx|pharynx cancer of hypopharynx|hypopharynx pharynx cancer|malignant hypopharyngeal tumor|malignant tumour of hypopharynx|hypural pharynx cancer|malignant neoplasm of posterior wall of hypopharynx|malignant neoplasm of other specified sites of hypopharynx ICD9:148|ICD10:C13.9|ICD10:C13.2|SCTID:303012000|MESH:D007012|ICD9:148.9|NCIT:C7190|ICD10:C13|GARD:0009334|EFO:0007321|ICD9:148.3|DOID:8533 owl:Class MONDO:0000456 biolink:NamedThing cerebral creatine deficiency syndrome Creatine deficiency syndrome (CDS) comprises a group of inborn errors of creatine metabolism, characterized by a global developmental delay, intellectual disability and associated neurological (seizures, movement disorders, myopathy) and behavioral manifestions. CDS includes two creatine biosynthesis disorders; guanidinoacetate methyltransferase deficiency and L- Arginine: glycine amidinotransferase deficiency, as well as X-linked creatine transporter deficiency. tmpaxzxjjyw_mondo_relaxed.owl creatine deficiency syndrome|CCDS|CDS|cerebral creatine deficiency syndrome OMIMPS:300352|Orphanet:79172|UMLS:CN227588|ICD10:E72.8|DOID:0050798 owl:Class MONDO:0019243 biolink:NamedThing inborn disorder of energy metabolism An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy. tmpaxzxjjyw_mondo_relaxed.owl inborn error of generation of precursor metabolites and energy|inborn generation of precursor metabolites and energy disorder|disorder of energy metabolism|rare inborn error of generation of precursor metabolites and energy Orphanet:79200|UMLS:CN227604 owl:Class UBERON:0001772 biolink:NamedThing corneal epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C52005 biolink:NamedThing Enterostomy tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C12736 biolink:NamedThing Intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006897 biolink:NamedThing endocytosis A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. tmpaxzxjjyw_mondo_relaxed.owl nonselective vesicle endocytosis|endocytic import into cell|plasma membrane invagination|vesicle endocytosis owl:Class MONDO:0014154 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate C Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive intermediate Charcot-Marie-Tooth disease type C|Charcot-Marie-Tooth disease recessive intermediate type C|CMTRIC|RI-CMT type C|Charcot-Marie-Tooth neuropathy, recessive Intermediate C|Charcot-Marie-Tooth disease, recessive Intermediate type C|Charcot-Marie-Tooth disease caused by mutation in PLEKHG5|PLEKHG5 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, recessive intermediate C|RI-CMTC UMLS:C3809309|ICD10:G60.0|OMIM:615376|Orphanet:369867|DOID:0110198 owl:Class HGNC:29105 biolink:NamedThing PLEKHG5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:17544 biolink:NamedThing hydrogencarbonate The carbon oxoanion resulting from the removal of a proton from carbonic acid. tmpaxzxjjyw_mondo_relaxed.owl hydrogentrioxocarbonate(IV)|HCO3-|hydroxidodioxidocarbonate(1-)|hydrogentrioxocarbonate(1-)|BICARBONATE ION|Acid carbonate|Bicarbonate|hydrogencarbonate|hydrogen carbonate|hydrogen(trioxidocarbonate)(1-)|Hydrogencarbonate|hydrogencarbonate(1-)|HCO3(-)|[CO2(OH)](-) owl:Class CHEBI:75772 biolink:NamedThing Saccharomyces cerevisiae metabolite Any fungal metabolite produced during a metabolic reaction in Baker's yeast (Saccharomyces cerevisiae). tmpaxzxjjyw_mondo_relaxed.owl baker's yeast metabolites|S. cerevisiae metabolite|baker's yeast secondary metabolites|Saccharomyces cerevisiae metabolites|baker's yeast metabolite|baker's yeast secondary metabolite|Saccharomyces cerevisiae secondary metabolites|S. cerevisiae secondary metabolites|S. cerevisiae secondary metabolite|S. cerevisiae metabolites owl:Class MONDO:0100095 biolink:NamedThing neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures Autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene. tmpaxzxjjyw_mondo_relaxed.owl CONDSIAS|neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures DOID:0070352|OMIM:618170 http://orcid.org/0000-0001-5208-3432 MONDO:0032576 owl:Class HGNC:21304 biolink:NamedThing ADPRS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014434 biolink:NamedThing Bardet-Biedl syndrome 5 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS5 gene. tmpaxzxjjyw_mondo_relaxed.owl BBS5|Bardet-Biedl syndrome caused by mutation in BBS5|Bardet-Biedl syndrome type 5|BBS5 Bardet-Biedl syndrome|Bardet-Biedl syndrome 5 ICD10:Q87.89|UMLS:C3892039|OMIM:209900|EFO:0009025|OMIM:615983|GARD:0010204|DOID:0110127 https://rarediseases.info.nih.gov/diseases/10204/bardet-biedl-syndrome-5 owl:Class HGNC:970 biolink:NamedThing BBS5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003235 biolink:NamedThing optic nerve glioma A glioma that affects the optic nerve. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group. tmpaxzxjjyw_mondo_relaxed.owl glioma of cranial nerve II|cranial nerve II glioma|optic nerve glioma|glioma of the optic nerve|glioma of optic nerve MESH:D020339|NCIT:C4537|ICD9:237.9|DOID:4992|UMLS:C0346326|SCTID:254976006 owl:Class UBERON:0000941 biolink:NamedThing cranial nerve II tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015540 biolink:NamedThing hemophagocytic syndrome Hemophagocytic syndrome (HPS) is a rare immune disease and a potentially life-threatening disorder characterized by cytokine storm and overwhelming inflammation causing fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia, and hemophagocytosis in bone marrow, liver, spleen or lymph nodes. It can be either primary due to a genetic defect (primary hemophagocytic lymphohistiocytosis), or secondary to malignancies, to infections, most commonly with viruses such as Epstein-Barr virus or cytomegalovirus, human immunodeficiency virus, or to autoimmune disorders such as systemic lupus erythematosus or adult-onset Still disease (secondary hemophagocytic lymphohistiocytosis). tmpaxzxjjyw_mondo_relaxed.owl haemophagocytic syndrome|familial histiocytic reticulosis|HLH|FHL|hemophagocytic syndrome|hemophagocytic lymphohistiocytosis|familial hemophagocytic lymphohistiocytosis|familial erythrophagocytic lymphohistiocytosis|hemophagocytic disorder GARD:0006589|DOID:0050120|OMIM:603553|OMIM:608898|NCIT:C35439|NCIT:C34792|Orphanet:540|ICD9:288.8|OMIM:267700|UMLS:C3887558|MedDRA:10058125|Orphanet:158032|OMIM:613101|OMIM:603552|ICD10:D76.1|SCTID:234437005|UMLS:C0024291 Editor note: NCIT treats hemophagocytic syndrome and Hemophagocytic Lymphohistiocytosis as distinct; we merge here but this should be checked. See https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/19 https://rarediseases.info.nih.gov/diseases/6589/hemophagocytic-lymphohistiocytosis owl:Class MONDO:0021136 biolink:NamedThing rare A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 persons at any given time. Here we take the European definition to be consistent with Orphanet. tmpaxzxjjyw_mondo_relaxed.owl rare (European definition) owl:Class UBERON:0018303 biolink:NamedThing adrenal tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020723 biolink:NamedThing vitamin D-dependent rickets, type 1A tmpaxzxjjyw_mondo_relaxed.owl 1-Alpha-Hydroxylase deficiency|vitamin D hydroxylation-deficient rickets, type 1A|PDDR 1A|25-hydroxycholecalciferol-1-Hydroxylase deficiency|1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective|vitamin D-dependent rickets, type 1A|VDDR1A|pseudovitamin D-deficiency rickets, type 1A|vitamin D dependency, type 1 OMIM:264700|UMLS:C0268689|Orphanet:289157 owl:Class HGNC:2606 biolink:NamedThing CYP27B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010822 biolink:NamedThing Warburg micro syndrome 1 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene. tmpaxzxjjyw_mondo_relaxed.owl Warburg micro syndrome caused by mutation in RAB3GAP1|Warburg micro syndrome type 1|WARBURG micro syndrome 1|micro syndrome 1|RAB3GAP1 Warburg micro syndrome|WARBM1|micro syndrome|Warburg micro syndrome 1 ICD10:Q87.0|OMIM:600118|Orphanet:2510|DOID:0110716 owl:Class HGNC:17063 biolink:NamedThing RAB3GAP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001251 biolink:NamedThing Ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). tmpaxzxjjyw_mondo_relaxed.owl Cerebellar ataxia UMLS:C0007758|SNOMEDCT_US:85102008|MSH:D002524 Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. HP:0007157|HP:0001253|HP:0002513|HP:0007050 human_phenotype owl:Class HGNC:1527 biolink:NamedThing CAV1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001317 biolink:NamedThing internal iliac vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006590 biolink:NamedThing thyroid hormone generation The formation of either of the compounds secreted by the thyroid gland, mainly thyroxine and triiodothyronine. This is achieved by the iodination and joining of tyrosine molecules to form the precursor thyroglobin, proteolysis of this precursor gives rise to the thyroid hormones. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000007 biolink:NamedThing Autosomal recessive inheritance A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). tmpaxzxjjyw_mondo_relaxed.owl Autosomal recessive form|Autosomal recessive|Autosomal recessive predisposition SNOMEDCT_US:258211005|UMLS:C4020899|UMLS:C0441748 HP:0001526|HP:0001416 human_phenotype owl:Class MONDO:0010279 biolink:NamedThing terminal osseous dysplasia-pigmentary defects syndrome Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis. tmpaxzxjjyw_mondo_relaxed.owl terminal osseous dysplasia|osseous dysplasia, digital, with Facial pigmentary defects and multiple frenula|Odpf syndrome|terminal osseous dysplasia and pigmentary defects|TOD|Odpd ICD10:Q87.2|UMLS:C1846129|OMIM:300244|MESH:C564554|Orphanet:88630 owl:Class HGNC:3754 biolink:NamedThing FLNA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013746 biolink:NamedThing ventricular septal defect 1 Any ventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene. tmpaxzxjjyw_mondo_relaxed.owl VSD1|ventricular septal defect 1|GATA4 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in GATA4|ventricular septal defect type 1 OMIM:614429|UMLS:C3280777 owl:Class HGNC:4173 biolink:NamedThing GATA4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001152 biolink:NamedThing cystic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001174 biolink:NamedThing common bile duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014877 biolink:NamedThing myopathy, distal, 5 Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene. tmpaxzxjjyw_mondo_relaxed.owl myopathy, distal, 5; MPD5|distal myopathy caused by mutation in ADSSL1|ADSSL1 distal myopathy|myopathy, distal, type 5|MPD5|myopathy, distal, 5 UMLS:C4310754|OMIM:617030 owl:Class HGNC:20093 biolink:NamedThing ADSS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002357 biolink:NamedThing serous pericardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001258 biolink:NamedThing neck of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001255 biolink:NamedThing urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000379 biolink:NamedThing tracheal mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016192 biolink:NamedThing qualitative or quantitative defects of telethonin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209056 owl:Class HGNC:11610 biolink:NamedThing TCAP tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001735 biolink:NamedThing Acute pancreatitis A acute form of pancreatitis. tmpaxzxjjyw_mondo_relaxed.owl Pancreatitis, acute|Acute pancreatic inflammation SNOMEDCT_US:197456007|UMLS:C0001339 HP:0004512 human_phenotype owl:Class CL:0002052 biolink:NamedThing Fraction D precursor B cell A pre-B cell that is pre-BCR-negative, and the kappa- and lambda- light immunoglobulin light chain-negative, CD43-low, and is BP-1-positive, CD45R-positive and CD25-positive. This cell type is also described as being AA4-positive, IgM-negative, CD19-positive, CD43-low/negative, and HSA-positive. tmpaxzxjjyw_mondo_relaxed.owl Fr. D|Fraction D pre-B cell Fraction D precursor B cells are also reportedly CD24-positive and sIgD-negative. tmeehan 2010-04-28T02:55:16Z cell owl:Class UBERON:8410033 biolink:NamedThing lymph node vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5099 biolink:NamedThing HOXA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000388 biolink:NamedThing epiglottis tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0012000 biolink:NamedThing astrocyte of the forebrain An astrocyte of the forebrain. tmpaxzxjjyw_mondo_relaxed.owl forebrain astrocyte tberardini cell owl:Class UBERON:0001890 biolink:NamedThing forebrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000323 biolink:NamedThing atmospheric boundary layer The atmospheric boundary layer is the lowest layer of an atmosphere which is strongly influenced by its contact with a planetary surface with strong vertical mixing and in which physical quantities such as flow velocity, temperature, and moisture display rapid fluctuations (turbulence). tmpaxzxjjyw_mondo_relaxed.owl planetary boundary layer owl:Class MONDO:0033004 biolink:NamedThing polycystic kidney disease 4 A autosomal dominant polycystic kidney disease that has material basis in mutation in the PKD4 gene. tmpaxzxjjyw_mondo_relaxed.owl polycystic kidney disease 4 with or without hepatic disease|hepatic fibrosis, congenital|PKD3|PKD3, formerly|polycystic kidney disease 4 with or without polycystic liver disease|polycystic kidney disease, infantile, type 1|polycystic kidney disease 4|PKD4|polycystic kidney disease, autosomal recessive|polycystic kidney and hepatic disease 1 OMIM:263200|DOID:0080212 owl:Class CHEBI:24431 biolink:NamedThing chemical entity A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances. tmpaxzxjjyw_mondo_relaxed.owl chemical entity owl:Class UBERON:0036248 biolink:NamedThing joint of auditory ossicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:25512 biolink:NamedThing neurotransmitter An endogenous compound that is used to transmit information across the synapse between a neuron and another cell. tmpaxzxjjyw_mondo_relaxed.owl neurotransmitters owl:Class HGNC:7549 biolink:NamedThing MYBPC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006692 biolink:NamedThing vertebral canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002240 biolink:NamedThing spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035038 biolink:NamedThing carpal tunnel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001148 biolink:NamedThing median nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1485 biolink:NamedThing Clostridium tmpaxzxjjyw_mondo_relaxed.owl Anaerobacter PMID:26643615|GC_ID:11|PMID:27488356 NCBITaxon:69207 ncbi_taxonomy owl:Class MONDO:0014194 biolink:NamedThing mitochondrial complex III deficiency nuclear type 6 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial Complex 3 deficiency, nuclear type 6|mitochondrial complex III deficiency, nuclear type 6|CYC1 mitochondrial complex III deficiency|MC3DN6|mitochondrial complex III deficiency caused by mutation in CYC1 Orphanet:1460|UMLS:C3809553|OMIM:615453|DOID:0080115 owl:Class HGNC:2579 biolink:NamedThing CYC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002208 biolink:NamedThing somatic diversification of immunoglobulins involved in immune response The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. tmpaxzxjjyw_mondo_relaxed.owl somatic diversification of antibodies during immune response|somatic diversification of immunoglobulins during immune response owl:Class UBERON:0003469 biolink:NamedThing respiratory system artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001004 biolink:NamedThing respiratory system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005726 biolink:NamedThing chemosensory system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034875 biolink:NamedThing future pituitary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000081 biolink:NamedThing metanephros tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr13q3 biolink:NamedThing 13q3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 114364328 78500000 hg38 owl:Class OBO:CHR_9606-chr13q biolink:NamedThing 13q (Human) tmpaxzxjjyw_mondo_relaxed.owl 114364328 17700000 hg38 owl:Class HGNC:23505 biolink:NamedThing BMS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903510 biolink:NamedThing mucopolysaccharide metabolic process The chemical reactions and pathways involving mucopolysaccharide. tmpaxzxjjyw_mondo_relaxed.owl mucopolysaccharide metabolism owl:Class MONDO:0003601 biolink:NamedThing mediastinum liposarcoma A malignant adipose tissue neoplasm of the anterior, middle or posterior mediastinum. tmpaxzxjjyw_mondo_relaxed.owl mediastinum liposarcoma|mediastinal liposarcoma|liposarcoma of the mediastinum|liposarcoma of mediastinum|lip mediastinum sarcoma UMLS:C1334663|NCIT:C6614|DOID:5713 owl:Class UBERON:0003608 biolink:NamedThing hindlimb long bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002103 biolink:NamedThing hindlimb tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004915 biolink:NamedThing sphincter of hepatopancreatic ampulla tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004913 biolink:NamedThing hepatopancreatic ampulla tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000124 biolink:NamedThing epineurium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000010 biolink:NamedThing peripheral nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006199 biolink:NamedThing endometrial undifferentiated carcinoma A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation. tmpaxzxjjyw_mondo_relaxed.owl endometrial undifferentiated carcinoma|undifferentiated endometrial carcinoma UMLS:CN201056|EFO:1000242|NCIT:C40156 owl:Class UBERON:0001295 biolink:NamedThing endometrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001997 biolink:NamedThing olfactory epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005386 biolink:NamedThing olfactory segment of nasal mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:9002062 biolink:NamedThing exposure to food propellant An exposure to food propellant. tmpaxzxjjyw_mondo_relaxed.owl exposure to food propellant owl:Class CHEBI:78017 biolink:NamedThing food propellant A propellant that is used to expel foods from an aerosol container. tmpaxzxjjyw_mondo_relaxed.owl food propellants owl:Class MONDO:0002258 biolink:NamedThing pharyngitis Inflammation of the throat most often caused by viral and bacterial infections. Other causes include allergens, chemical substances, and trauma. tmpaxzxjjyw_mondo_relaxed.owl chronic pharyngitis|chronic pharyn/nasopharyngitis|acute sore throat|Sore throat - chronic|inflammation of throat|Sore throat|throat inflammation|chronic pharyngitis and nasopharyngitis|pharyngitis - acute|pharyngeal disorder|acute pharyngitis|pharyngeal disease|chronic sore throat|persistent sore throat|inflamed throat NCIT:C26851|ICD9:478.20|ICD9:472|SCTID:405737000|UMLS:C0031350|ICD10:J02|DOID:2275|MESH:D010612|ICD10:J02.9|ICD9:462 owl:Class UBERON:0000341 biolink:NamedThing throat tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014845 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 22 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 22; SCAR22|SCAR22|spinocerebellar ataxia, autosomal recessive 22|autosomal recessive cerebellar ataxia caused by mutation in VWA3B|spinocerebellar ataxia, autosomal recessive type 22|VWA3B autosomal recessive cerebellar ataxia OMIM:616948|UMLS:C4310781|DOID:0111614 owl:Class HGNC:28385 biolink:NamedThing VWA3B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010323 biolink:NamedThing cranial skeletal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011137 biolink:NamedThing axial skeletal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017199 biolink:NamedThing osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family. tmpaxzxjjyw_mondo_relaxed.owl Heide syndrome SCTID:716189005|Orphanet:2787|UMLS:CN202651|UMLS:C4274786 owl:Class HP:0004349 biolink:NamedThing Reduced bone mineral density A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. tmpaxzxjjyw_mondo_relaxed.owl Decreased bone mineral density Z score|Decreased bone mineral density|Low solidness and mass of the bones UMLS:C2674432 peter 2008-03-11T08:10:00Z human_phenotype owl:Class CHEBI:27958 biolink:NamedThing cocaine A tropane alkaloid obtained from leaves of the South American shrub Erythroxylon coca. tmpaxzxjjyw_mondo_relaxed.owl methyl benzoylecgonine|l-Cocain|Cocaina|COCAINE|l-cocaine|cocainum|(-)-cocaine|Kokain|Cocain|[1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylic acid, methyl ester|(1R,2R,3S,5S)-2-(methoxycarbonyl)tropan-3-yl benzoate|methyl [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate|Cocaine|beta-Cocain|methyl (1R,2R,3S,5S)-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate|Neurocaine|Benzoylmethylecgonine|2-methyl-3beta-hydroxy-1alphaH,5alphaH-tropane-2beta-carboxylate benzoate (ester) owl:Class CHEBI:51039 biolink:NamedThing dopamine uptake inhibitor A dopaminergic agent that blocks the transport of dopamine into axon terminals or into storage vesicles within terminals. Most of the adrenergic uptake inhibitors also inhibit dopamine uptake. tmpaxzxjjyw_mondo_relaxed.owl dopamine reuptake inhibitor|DRI|dopamine uptake inhibitors|DARI|dopamine reuptake inhibitors owl:Class UBERON:0034715 biolink:NamedThing pineal tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001905 biolink:NamedThing pineal body tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001343 biolink:NamedThing seminiferous tubule of testis tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007283 biolink:NamedThing spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. tmpaxzxjjyw_mondo_relaxed.owl generation of spermatozoa owl:Class MONDO:0012414 biolink:NamedThing neuronal ceroid lipofuscinosis 10 A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpaxzxjjyw_mondo_relaxed.owl CTSD neuronal ceroid lipofuscinosis|CLN10 disease, late infantile (subtype)|CLN10 disease, congenital (subtype)|neuronal ceroid lipofuscinosis due to cathepsin D deficiency|neuronal ceroid lipofuscinosis, congenital|neuronal ceroid lipofuscinosis cathepsin D-deficient|CLN10 disease|CLN10 disease, adult (subtype)|CLN10|ceroid lipofuscinosis, neuronal, 10|neuronal ceroid lipofuscinosis due to Cathepsin D deficiency|ceroid lipofuscinosis, neuronal, Cathepsin D-deficient|ceroid lipofuscinosis, neuronal, type 10|CLN10 disease, juvenile (subtype)|ceroid lipofuscinosis neuronal Cathepsin D-deficient|neuronal ceroid lipofuscinosis caused by mutation in CTSD|CLN10-NCL|Cathepsin D deficiency|neuronal ceroid lipofuscinosis type 10 MESH:C566438|DOID:0110725|Orphanet:79264|ICD10:E75.4|Orphanet:79262|Orphanet:168486|Orphanet:228337|OMIM:610127|Orphanet:168491|SCTID:720831008|GARD:0001218 https://rarediseases.info.nih.gov/diseases/1218/neuronal-ceroid-lipofuscinosis-10 owl:Class HGNC:2529 biolink:NamedThing CTSD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021100 biolink:NamedThing breast neoplasm A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males. tmpaxzxjjyw_mondo_relaxed.owl neoplasm, breast|neoplasm of breast|tumor of breast|breast neoplasm (disease)|breast tumor|tumor of the breast|neoplasm of the breast|breast neoplasm SCTID:126926005|NCIT:C2910|ONCOTREE:BREAST|ICD9:239.3|EFO:0003869|MESH:D001943|UMLS:CN236627 owl:Class UBERON:0000310 biolink:NamedThing breast tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr4p biolink:NamedThing 4p (Human) tmpaxzxjjyw_mondo_relaxed.owl 50000000 0 hg38 owl:Class OBO:CHR_9606-chr2q22 biolink:NamedThing 2q22 (Human) tmpaxzxjjyw_mondo_relaxed.owl 147900000 136100000 hg38 owl:Class OBO:CHR_9606-chr2q2 biolink:NamedThing 2q2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 168900000 129100000 hg38 owl:Class MONDO:0017357 biolink:NamedThing transient hyperammonemia of the newborn tmpaxzxjjyw_mondo_relaxed.owl Orphanet:289877|ICD10:P74.8|UMLS:CN203020 owl:Class HP:0025153 biolink:NamedThing Transient Short-lived and not permanent. This term applies to a phenotypic abnormality that is temporary and of short duration. tmpaxzxjjyw_mondo_relaxed.owl 2016-12-03 22:19:26+00:00 HPO:probinson human_phenotype owl:Class MONDO:0005772 biolink:NamedThing geotrichosis Infection due to the fungus Geotrichum. tmpaxzxjjyw_mondo_relaxed.owl SCTID:13969006|DOID:2832|ICD10:B48.3|ICD9:117.9|MESH:D005847|EFO:0007284|UMLS:C0017455 owl:Class NCBITaxon:1173061 biolink:NamedThing Geotrichum candidum tmpaxzxjjyw_mondo_relaxed.owl Oospora lactis|Galactomyces candidum|Endomyces geotrichum|Dipodascus geotrichum|Galactomyces candidus|Galactomyces geotrichum GC_ID:1 NCBITaxon:27317|NCBITaxon:426521|NCBITaxon:2282360|NCBITaxon:426520|NCBITaxon:1081645 ncbi_taxonomy owl:Class UBERON:0001739 biolink:NamedThing laryngeal cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:8000003 biolink:NamedThing streptococcus pneumoniae discitis Discitis caused by infection with Streptococcus pneumoniae. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010204 biolink:NamedThing lysosomal acid lipase deficiency Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis. tmpaxzxjjyw_mondo_relaxed.owl cholesterol ester hydrolase deficiency|lipa deficiency|lysosomal and lipase deficiency|Wolman disease|lysosomal acid lipase deficiency|cholesteryl ester storage disease|LAL deficiency OMIM:278000|UMLS:C0043208|Orphanet:75233|GARD:0012097|Orphanet:275761|MESH:C531854|SCTID:715923003|ICD10:E75.5|DOID:0080217|Orphanet:75234 owl:Class UBERON:0022287 biolink:NamedThing tear film tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010409 biolink:NamedThing ocular surface region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034709 biolink:NamedThing hindbrain marginal layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002028 biolink:NamedThing hindbrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003889 biolink:NamedThing fallopian tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020716 biolink:NamedThing familial thyroid dyshormonogenesis 1 tmpaxzxjjyw_mondo_relaxed.owl thyroid dyshormonogenesis type 1|thyroid hormonogenesis, genetic defect in, 1|thyroid dyshormonogenesis 1|hypothyroidism, congenital, due to dyshormonogenesis, 1|TDH1|iodine accumulation, transport, or trapping defect OMIM:274400 owl:Class HGNC:11040 biolink:NamedThing SLC5A5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005980 biolink:NamedThing glycogen catabolic process The chemical reactions and pathways resulting in the breakdown of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues. tmpaxzxjjyw_mondo_relaxed.owl glycogen catabolism|glycogen degradation|glycogen breakdown|glycogenolysis owl:Class MONDO:0014591 biolink:NamedThing autosomal dominant Robinow syndrome 2 Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene. tmpaxzxjjyw_mondo_relaxed.owl Robinow syndrome, autosomal dominant type 2|autosomal dominant Robinow syndrome type 2|autosomal dominant Robinow syndrome caused by mutation in DVL1|Robinow syndrome, autosomal dominant 2|DRS2|DVL1 autosomal dominant Robinow syndrome Orphanet:97360|UMLS:C4225363|ICD10:Q87.1|OMIM:616331|DOID:0060765|Orphanet:3107 owl:Class HGNC:24036 biolink:NamedThing APC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001663 biolink:NamedThing cerebral vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000522 biolink:NamedThing exposure to mitochondrial respiratory-chain inhibitor An exposure to mitochondrial respiratory-chain inhibitor. tmpaxzxjjyw_mondo_relaxed.owl exposure to mitochondrial respiratory-chain inhibitor owl:Class UBERON:0000962 biolink:NamedThing nerve of cervical vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002726 biolink:NamedThing cervical spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014505 biolink:NamedThing proximal phalanx of digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006052 biolink:NamedThing digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035174 biolink:NamedThing right ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013514 biolink:NamedThing space surrounding organism tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016172 biolink:NamedThing acquired sensory ganglionopathy An instance of sensory ganglionopathy that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired sensory ganglionopathy|acquired sensory neuronopathy Orphanet:208984 owl:Class MONDO:0021141 biolink:NamedThing acquired tmpaxzxjjyw_mondo_relaxed.owl not genetically inherited Orphanet:409941 owl:Class UBERON:0000979 biolink:NamedThing tibia tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003124 biolink:NamedThing chorion membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008721 biolink:NamedThing medium chain acyl-CoA dehydrogenase deficiency Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. tmpaxzxjjyw_mondo_relaxed.owl medium-chain acyl-CoA dehydrogenase deficiency|ACADMD|Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency|Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency|medium chain acyl-coenzyme A dehydrogenase deficiency|acyl-CoA dehydrogenase medium chain deficiency of|acyl-CoA dehydrogenase, medium-chain deficiency|medium-chain acyl-Coenzyme A dehydrogenase deficiency|MCADD|Mcadh deficiency|MCAD|ACADM deficiency|medium chain acyl CoA dehydrogenase deficiency|MCAD deficiency|medium chain acyl-CoA dehydrogenase deficiency|acyl-CoA dehydrogenase, medium-chain, deficiency OF ICD9:277.85|ICD10:E71.311|Orphanet:42|UMLS:C0220710|SCTID:128596003|MESH:C536038|GARD:0000540|OMIM:201450|DOID:0080153|NCIT:C84538|ICD10:E71.3 owl:Class HGNC:89 biolink:NamedThing ACADM tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008501 biolink:NamedThing Sturge-Weber syndrome Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies. tmpaxzxjjyw_mondo_relaxed.owl meningeal capillary angiomatosis|Sturge-Weber-Krabbe syndrome|Sturge-Weber-Dimitri syndrome|SWS type II - Facial angioma alone, no CNS involvement|Sturge Weber syndrome|Encephalotrigeminal syndrome|Sturge-Weber disease|Sturge-Weber syndrome|Encephalotrigeminal angiomatosis|SWS|fourth phacomatosis|STURGE-WEBER syndrome|SWS type III - isolated leptomeningeal angiomas|Encephalofacial angiomatosis|SWS type I - Facial and leptomeningeal angiomas|Sturge-Weber-Krabbe angiomatosis|leptomeningeal angiomatosis ICD10:Q85.8|DOID:0111563|UMLS:C0038505|MedDRA:10057653|SCTID:19886006|Orphanet:3205|MESH:D013341|GARD:0007706|OMIM:185300|NCIT:C3391|UMLS:CN204001|MedDRA:10042265|ICD9:759.6 https://rarediseases.info.nih.gov/diseases/7706/sturge-weber-syndrome owl:Class MONDO:0020182 biolink:NamedThing palpebral tumor with a vascular malformation tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN207042|Orphanet:98592 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: eyelid neoplasm' MONDO_0002235 owl:Class UBERON:0001987 biolink:NamedThing placenta tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015071 biolink:NamedThing middle ear neuroendocrine tumor A neuroendocrine neoplasm that involves the middle ear. tmpaxzxjjyw_mondo_relaxed.owl middle ear neuroendocrine neoplasm|middle ear neuroendocrine tumor, well differentiated, low or intermediate grade|neuroendocrine neoplasm of middle ear|middle ear NET|neuroendocrine tumor of middle ear|middle ear neuroendocrine tumor SCTID:717918002|UMLS:C4305468|UMLS:CN197364|Orphanet:100084 owl:Class UBERON:0001756 biolink:NamedThing middle ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002668 biolink:NamedThing oculomotor nerve root tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001643 biolink:NamedThing oculomotor nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0002096 biolink:NamedThing neoplastic, non-malignant A disposition inhering in a tumour by virtue of the bearer's disposition not to progress, invade surrounding tissues or metastasize. tmpaxzxjjyw_mondo_relaxed.owl benign owl:Class GO:0010884 biolink:NamedThing positive regulation of lipid storage Any process that increases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of lipid sequestration owl:Class GO:0019915 biolink:NamedThing lipid storage The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. tmpaxzxjjyw_mondo_relaxed.owl sequestration of lipids|retention of lipids|sequestration of lipid|storage of lipids|lipid sequestration|lipid sequestering|sequestering of lipids|lipid retention owl:Class MONDO:0010520 biolink:NamedThing X-linked Alport syndrome X-linked form of Alport syndrome. tmpaxzxjjyw_mondo_relaxed.owl X-linked Alport syndrome|Alport syndrome, X-linked|congenital hereditary hematuria|ATS|nephropathy and deafness, X-linked|hemorrhagic hereditary nephritis|hemorrhagic familial nephritis SCTID:717768004|GARD:0005785|Orphanet:88917|DOID:0110034|Orphanet:63|MedDRA:10001843|ICD10:Q87.8|OMIM:301050 owl:Class HP:0001417 biolink:NamedThing X-linked inheritance A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. tmpaxzxjjyw_mondo_relaxed.owl X-linked|X-linked form UMLS:C0241764|MSH:D050172|SNOMEDCT_US:263934009 HP:0001418 human_phenotype owl:Class MONDO:0010225 biolink:NamedThing Dent disease type 1 Dent disease type 1 is a type of Dent disease with predominantly renal manifestations. tmpaxzxjjyw_mondo_relaxed.owl nephrolithiasis, hypercalciuric, X-linked|nephrolithiasis type 1|DENT disease 1|urolithiasis, hypercalciuric, X-linked|Dent disease caused by mutation in CLCN5|CLCN5 Dent disease|Dent disease type 1|nephrolithiasis 2 OMIM:300554|Orphanet:1652|UMLS:C4305530|OMIM:310468|SCTID:717789008|Orphanet:93622|OMIM:300009|OMIM:308990|ICD10:N25.8|UMLS:CN206679 owl:Class HGNC:2023 biolink:NamedThing CLCN5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001644 biolink:NamedThing Dilated cardiomyopathy Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. tmpaxzxjjyw_mondo_relaxed.owl Congestive cardiomyopathy|Stretched and thinned heart muscle|Cardiomyopathy, dilated|DCM UMLS:C0007193|SNOMEDCT_US:195021004|Fyler:1843|MSH:D002311|SNOMEDCT_US:399020009 HP:0005159|HP:0001725|HP:0200130 human_phenotype owl:Class UBERON:0002425 biolink:NamedThing visceral serous pericardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002348 biolink:NamedThing epicardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010476 biolink:NamedThing neurodegeneration with brain iron accumulation 5 Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood. tmpaxzxjjyw_mondo_relaxed.owl BPAN|neurodegeneration with brain iron accumulation type 5|static encephalopathy of childhood with neurodegeneration in adulthood|neurodegeneration with brain iron accumulation 5|SENDA|static encephalopathy Of childhood with neurodegeneration In adulthood|neurodegeneration with brain iron accululation 5|WDR45 neurodegeneration with brain iron accumulation|NBIA5|static encephalopathy of childhood with neurdegeneration in adulthood|beta-propeller protein-associated neurodegeneration|neurodegeneration with brain iron accumulation caused by mutation in WDR45 SCTID:732959007|OMIM:300894|GARD:0012570|ICD10:G23.0|UMLS:C3550973|UMLS:CN168656|Orphanet:329284|DOID:0110739 owl:Class HGNC:28912 biolink:NamedThing WDR45 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013695 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 6 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene. tmpaxzxjjyw_mondo_relaxed.owl TGFBR2 hereditary nonpolyposis colon cancer|colon cancer, hereditary nonpolyposis, type 6|colorectal cancer, hereditary nonpolyposis, type 6|hereditary nonpolyposis colon cancer caused by mutation in TGFBR2|HNPCC6 DOID:0070273|MESH:C566039|Orphanet:144|OMIM:614331|UMLS:C1860896 owl:Class HGNC:11773 biolink:NamedThing TGFBR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000170 biolink:NamedThing pair of lungs tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010368 biolink:NamedThing pulmonary lobule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014545 biolink:NamedThing progressive myoclonic epilepsy type 8 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene. tmpaxzxjjyw_mondo_relaxed.owl EPM8|progressive myoclonic epilepsy caused by mutation in CERS1|progressive myoclonic epilepsy due to CERS1 deficiency|progressive myoclonus epilepsy type 8|CERS1 progressive myoclonic epilepsy|epilepsy, progressive myoclonic, type 8|PME type 8|epilepsy, progressive myoclonic, 8 Orphanet:424027|DOID:0111451|ICD10:G40.3|OMIM:616230|UMLS:C4015619 owl:Class HGNC:14253 biolink:NamedThing CERS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001575 biolink:NamedThing chronic gonococcal salpingitis Chronic form of gonococcal salpingitis. tmpaxzxjjyw_mondo_relaxed.owl gonococcal salpingitis|gonococcal salpingitis, chronic UMLS:C0153208|ICD9:098.37|DOID:12718|SCTID:53529004 owl:Class PATO:0001863 biolink:NamedThing chronic A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000981 biolink:NamedThing femur tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036072 biolink:NamedThing respiratory primordium epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007690 biolink:NamedThing early pharyngeal endoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009879 biolink:NamedThing tarsal skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000345 biolink:NamedThing Oropouche fever A disease caused by infection with Oropouche virus. tmpaxzxjjyw_mondo_relaxed.owl Oropouche virus caused disease or disorder|Oropouche virus disease or disorder|Oropouche virus infectious disease DOID:0050521|MEDGEN:547314|SCTID:72880002|UMLS:C0276386 owl:Class NCBITaxon:118655 biolink:NamedThing Oropouche virus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0036385 biolink:NamedThing nucleoid DNA packaging Any process in which DNA and associated proteins are formed into a compact, orderly structure within a nucleoid. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009295 biolink:NamedThing nucleoid The region of a virus, bacterial cell, mitochondrion or chloroplast to which the nucleic acid is confined. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001835 biolink:NamedThing lower lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:02000103 biolink:NamedThing metallic dust Dust which is composed primarily of some metallic material. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001069 biolink:NamedThing metallic material A material which is composed primarily of one or more pure metals and which shows their properties. tmpaxzxjjyw_mondo_relaxed.owl metal owl:Class MONDO:0003611 biolink:NamedThing uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease A benign mesonephric neoplasm that arises from the uterine ligament and occurs in women with von Hippel-Lindau disease. It is a cystic lesion characterized by the presence of multiple papillary excrescences. tmpaxzxjjyw_mondo_relaxed.owl uterine ligament papillary cystadenoma|uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease UMLS:C3642324|DOID:5726|NCIT:C40142 owl:Class MONDO:0008667 biolink:NamedThing von Hippel-Lindau disease Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma. tmpaxzxjjyw_mondo_relaxed.owl familial cerebelloretinal angiomatosis|VON Hippel-Lindau syndrome|cerebroretinal angiomatosis|Lindau disease|von Hippel-Lindau syndrome|von Hippel-Lindau disease|VHL syndrome|Von Hippel-Lindau syndrome, Modifiers of|Hippel Lindau syndrome|Von Hippel Lindau disease|Von Hippel-Lindau syndrome (VHL)|Von Hippel-Lindau syndrome|VHL MedDRA:10047716|ICD9:759.6|OMIM:193300|SCTID:46659004|Orphanet:892|ICD10:Q85.8|MESH:D006623|GARD:0007855|NCIT:C3105|DOID:14175|UMLS:C0019562 https://rarediseases.info.nih.gov/diseases/7855/von-hippel-lindau-disease owl:Class GO:0071738 biolink:NamedThing IgD immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014138 biolink:NamedThing nemaline myopathy 8 An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles. tmpaxzxjjyw_mondo_relaxed.owl NEM8|nemaline myopathy caused by mutation in KLHL40|KLHL40 nemaline myopathy|nemaline myopathy 8, autosomal recessive|nemaline myopathy 8|nemaline myopathy type 8 UMLS:C3809209|OMIM:615348|DOID:0110930|NCIT:C129871|Orphanet:607 owl:Class HGNC:30372 biolink:NamedThing KLHL40 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019219 biolink:NamedThing regulation of nucleobase-containing compound metabolic process Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. tmpaxzxjjyw_mondo_relaxed.owl regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism owl:Class CL:0000084 biolink:NamedThing T cell A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. tmpaxzxjjyw_mondo_relaxed.owl T-cell|mature T cell|T-lymphocyte|immature T cell|T lymphocyte BTO:0000782|FMA:62870|VHOG:0001479|CALOHA:TS-1001 CL:0000804|CL:0000812 cell owl:Class MONDO:0014749 biolink:NamedThing tooth agenesis, selective, 7 Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene. tmpaxzxjjyw_mondo_relaxed.owl LRP6 tooth agenesis|STHAG7|tooth agenesis, selective, 7|tooth agenesis caused by mutation in LRP6|tooth agenesis, selective, 7; STHAG7|tooth agenesis, selective, type 7 UMLS:C4225231|OMIM:616724 owl:Class HGNC:6698 biolink:NamedThing LRP6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001912 biolink:NamedThing positive regulation of leukocyte mediated cytotoxicity Any process that activates or increases the frequency, rate or extent of leukocyte mediated cytotoxicity. tmpaxzxjjyw_mondo_relaxed.owl stimulation of leukocyte mediated cytotoxicity|up regulation of leukocyte mediated cytotoxicity|positive regulation of leucocyte mediated cytotoxicity|up-regulation of leukocyte mediated cytotoxicity|upregulation of leukocyte mediated cytotoxicity|activation of leukocyte mediated cytotoxicity|positive regulation of immune cell mediated cytotoxicity owl:Class GO:0001909 biolink:NamedThing leukocyte mediated cytotoxicity The directed killing of a target cell by a leukocyte. tmpaxzxjjyw_mondo_relaxed.owl leucocyte mediated cytotoxicity|immune cell mediated cell killing|immune cell mediated cell death|immune cell mediated cytotoxicity owl:Class UBERON:0010545 biolink:NamedThing metatarsus skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002299 biolink:NamedThing alveolus of lung tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002400 biolink:NamedThing parietal pleura tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35693 biolink:NamedThing dicarboxylic acid anion tmpaxzxjjyw_mondo_relaxed.owl dicarboxylic acid anions|dicarboxylic acid anion owl:Class MONDO:0006883 biolink:NamedThing malignant superior sulcus neoplasm A malignant neoplasm originating from the apical lung. Most malignant superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor. tmpaxzxjjyw_mondo_relaxed.owl superior pulmonary sulcus syndrome|malignant Superior sulcus neoplasm of the lung|superior pulmonary sulcus syndrome (disorder) [ambiguous]|malignant Superior sulcus lung neoplasm|Pancoast's tumor|Pancoast's tumour|superior sulcus tumor|Pancoast's syndrome|malignant Superior sulcus neoplasm of lung|Pancoast tumor|malignant Superior sulcus tumor|malignant Superior sulcus lung tumor|malignant Superior sulcus tumor of lung|malignant Superior sulcus tumor of the lung|malignant pulmonary sulcus neoplasm|pulmonary sulcus neoplasm, malignant|malignant Superior sulcus neoplasm NCIT:C7527|EFO:1001080|NCIT:C27710|UMLS:C0549471|DOID:8007|SCTID:254638002 owl:Class PATO:0002097 biolink:NamedThing neoplastic, malignant A disposition inhering in a tumour by virtue of the bearer's disposition to progress, invade surrounding tissues or metastasize. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001707 biolink:NamedThing nasal cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005870 biolink:NamedThing olfactory pit tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000233 biolink:NamedThing platelet A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. tmpaxzxjjyw_mondo_relaxed.owl enucleate thrombocyte|blood platelet|anucleate thrombocyte BTO:0000132|FMA:62851|CALOHA:TS-0803 Platelets are reportedly CCR1-positive, CCR2-negative, CCR3-positive, CCR4-positive, CCR5-negative, CCR6-negative, CCR7-negative, CCR8-negative, CCR9-negative, CCR10-negative, CD16-positive, CD23-positive, CD32-positive, CD40-positive, CD41-positive CD42-positive, CD61-positive, CD62P-positive, CD64-positive, CD89-positive, CD102-positive, CD147-positive (activated platelets), CD154-positive (activated platelets), CD162-positive, CD209, CD282-positive, CD284-positive, CD289-positive, CD181-negative, CD182-negative, CD183-negative, CD184-positive, CLEC2-positive, GPVI-positive, JAMC-positive, PAR1-positive, PAR2-negative, PAR3-positive, PAR4-positive, TSP1-positive, and TXA2R-positive. Platelets can reportedly produce CCL2, CCL3, CCL5, CCL7, CCL17, CD40L, CXCL1, CXCL4, CXCL4L1, CXCL5, CXCL7, CXCL8, CXCL12, EGF, factor V, factor VII, factor XI, factor XIII, bFGF, histamine, IGF-1, IL-1beta, PAI-1, PDGF, plasminogen, protein S, serotonin, TGF-beta, TFPI, VEGF, and vWF. cell owl:Class UBERON:0004408 biolink:NamedThing distal epiphysis of ulna tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009287 biolink:NamedThing glycogen storage disease due to glucose-6-phosphatase deficiency type IA Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency. tmpaxzxjjyw_mondo_relaxed.owl Von Gierke disease|glycogen storage disease Ia|glycogen storage disease type 1a|glycogenosis type Ia|glycogen storage disease type Ia|glycogen storage disease 1|glycogenosis due to glucose-6-phosphatase deficiency type 1a|G6PC glycogen storage disease|glucose-6-phosphatase deficiency|GSD1A|glycogen storage disease 1A|glucose-6-phosphatase deficiency glycogen storage disease|GSD type 1a|hepatorenal glycogenosis|glycogen storage disease caused by mutation in G6PC|GSDIa|GSD due to G6P deficiency type Ia|glycogenosis due to glucose-6-phosphatase deficiency type Ia|GSD due to G6P deficiency type 1a|GSD1|hepatorenal form of glycogen storage disease|glycogen storage disease due to G6P deficiency type Ia|GSD Ia|G6P deficiency type 1a UMLS:CN205860|UMLS:C2919796|GARD:0007864|MESH:C538655|Orphanet:364|ICD10:E74.0|UMLS:CN069618|SCTID:444707001|Orphanet:79258|OMIM:232200 owl:Class HGNC:4056 biolink:NamedThing G6PC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:27232 biolink:NamedThing C8orf37 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008876 biolink:NamedThing hypodermis skeletal muscle layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002072 biolink:NamedThing hypodermis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002370 biolink:NamedThing thymus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000153 biolink:NamedThing anterior region of body tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000945 biolink:NamedThing stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016944 biolink:NamedThing partial duplication of the short arm of chromosome 7 Chromosome 7p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 7p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl chromosome 7p duplication|partial duplication of the short arm of chromosome type 7|partial duplication of chromosome 7p|partial trisomy of chromosome 7p|7p trisomy|trisomy 7p|7p duplication|Duplication 7p|partial trisomy 7p|partial trisomy of the short arm of chromosome 7 GARD:0005355|Orphanet:262749|UMLS:C0795820|MESH:C537819 owl:Class OBO:CHR_9606-chr7p biolink:NamedThing 7p (Human) tmpaxzxjjyw_mondo_relaxed.owl 60100000 0 hg38 owl:Class MONDO:0021292 biolink:NamedThing carcinoma in situ of gastric body A in situ carcinoma that involves the body of stomach. tmpaxzxjjyw_mondo_relaxed.owl body of stomach in situ carcinoma|gastric body carcinoma in situ|stage 0 gastric body carcinoma|body of stomach carcinoma in situ|carcinoma in situ of the body of the stomach|carcinoma in situ of the gastric body|carcinoma in situ of body of stomach|gastric body carcinoma in situ aJCC v6 and v7|stage 0 body of stomach carcinoma SCTID:92549006|UMLS:C0345805|NCIT:C4430 owl:Class MONDO:0014441 biolink:NamedThing Bardet-Biedl syndrome 13 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene. tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome type 13|BBS13|Bardet-Biedl syndrome caused by mutation in MKS1|MKS1 Bardet-Biedl syndrome|Bardet-Biedl syndrome 13 OMIM:615990|UMLS:C2673873|MESH:C567140|Orphanet:110|ICD10:Q87.89|DOID:0110135 owl:Class HGNC:7121 biolink:NamedThing MKS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003134 biolink:NamedThing female reproductive organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003100 biolink:NamedThing female organism Gonochoristic organism that can produce female gametes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr7q3 biolink:NamedThing 7q3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 159345973 107800000 hg38 owl:Class OBO:CHR_9606-chr7q biolink:NamedThing 7q (Human) tmpaxzxjjyw_mondo_relaxed.owl 159345973 60100000 hg38 owl:Class UBERON:0001751 biolink:NamedThing dentine tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:7742 biolink:NamedThing Vertebrata tmpaxzxjjyw_mondo_relaxed.owl vertebrates|Vertebrata GC_ID:1 ncbi_taxonomy owl:Class CL:0002049 biolink:NamedThing Fraction C precursor B cell A precursor B cell is CD45R-positive, CD43-positive, CD24-positive, and BP-positive. Intracellularly expression of surrogate light chain, Rag1 and Rag2, TdT, occurs while there is no expression of mu heavy chain. tmpaxzxjjyw_mondo_relaxed.owl Fraction C tmeehan 2010-04-28T02:04:01Z cell owl:Class MONDO:0004081 biolink:NamedThing extrahepatic bile duct clear cell adenocarcinoma A morphologic variant of extrahepatic bile duct adenocarcinoma characterized by the presence of malignant glandular epithelium composed of clear cells. tmpaxzxjjyw_mondo_relaxed.owl clear cell adenocarcinoma of bile duct|clear cell bile duct adenocarcinoma|clear cell adenocarcinoma of the bile duct|extrahepatic bile duct clear cell adenocarcinoma|bile duct clear cell carcinoma|bile duct clear cell adenocarcinoma DOID:7032|NCIT:C5775|UMLS:C0861855 owl:Class UBERON:0003703 biolink:NamedThing extrahepatic bile duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012399 biolink:NamedThing complex cortical dysplasia with other brain malformations 7 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene. tmpaxzxjjyw_mondo_relaxed.owl TUBB2B complex cortical dysplasia with other brain malformations|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B|polymicrogyria due to TUBB2B mutation|PMGYSA|polymicrogyria, symmetric or asymmetric|CDCBM7|cortical dysplasia, Complex, with Other brain malformations 7|cortical dysplasia, COMPLEX, with OTHER brain malformations 7|complex cortical dysplasia with other brain malformations type 7 Orphanet:208444|Orphanet:268940|DOID:0090132|Orphanet:300573|OMIM:610031|GARD:10783|ICD10:Q04.3|UMLS:CN203403 owl:Class HGNC:30829 biolink:NamedThing TUBB2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12872 biolink:NamedThing ZIC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005724 biolink:NamedThing roof plate spinal cord region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003054 biolink:NamedThing roof plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7225 biolink:NamedThing MPZ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005221 biolink:NamedThing renal pelvis urothelial carcinoma A carcinoma that arises from the transitional epithelium of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas. tmpaxzxjjyw_mondo_relaxed.owl urothelial cell carcinoma of renal pelvis|urothelial cell carcinoma of the renal pelvis|renal pelvis urothelial carcinoma|kidney renal pelvis urothelial cancer|transitional cell carcinoma of the renal pelvis|renal pelvis urothelial cancer|renal pelvis transitional cell carcinoma|transitional cell carcinoma of renal pelvis SCTID:408642003|NCIT:C7355|DOID:5974|UMLS:C0238410|EFO:0003017|ICD9:189.0 owl:Class UBERON:0000974 biolink:NamedThing neck tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005428 biolink:NamedThing vagal neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002342 biolink:NamedThing neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060073 biolink:NamedThing micturition The regulation of body fluids process in which parasympathetic nerves stimulate the bladder wall muscle to contract and expel urine from the body. tmpaxzxjjyw_mondo_relaxed.owl urine voiding|urination owl:Class MONDO:0003936 biolink:NamedThing invasive tubular breast carcinoma An invasive adenocarcinoma of the breast with a favorable prognosis. It is composed of tubular structures lined by a single layer of epithelium. tmpaxzxjjyw_mondo_relaxed.owl tubular breast carcinoma|invasive tubular carcinoma of the breast|infiltrating tubular breast carcinoma|invasive tubular breast carcinoma|infiltrating tubular carcinoma of breast|tubular carcinoma of breast|tubular breast cancer|breast tubular adenocarcinoma|invasive tubular carcinoma of breast|infiltrating tubular carcinoma of the breast|tubular carcinoma of the breast DOID:6587|NCIT:C9135|UMLS:C1328544 owl:Class PATO:0002129 biolink:NamedThing neoplastic, invasive A disposition inhering in a tumour by virtue of the bearer's disposition to invade surrounding tissues. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002089 biolink:NamedThing lens morphogenesis in camera-type eye The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. tmpaxzxjjyw_mondo_relaxed.owl lens morphogenesis in camera-style eye|lens morphogenesis owl:Class GO:0002007 biolink:NamedThing detection of hypoxic conditions in blood by chemoreceptor signaling The process in which information about a lack of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies and the aortic bodies. tmpaxzxjjyw_mondo_relaxed.owl detection of hypoxic conditions in blood by chemoreceptor signalling owl:Class MONDO:0005821 biolink:NamedThing late congenital syphilis tmpaxzxjjyw_mondo_relaxed.owl juvenile syphilis|late congenital syphilis|juvenile neurosyphilis|late congenital syphilis, symptomatic (2 years or more)|late congenital syphilis (2 years or more) ICD9:090.40|ICD10:A50.5|ICD9:090.4|EFO:0007339|ICD10:A50.4|SCTID:82323002|ICD9:090.7|DOID:10039|ICD10:A50.59|ICD10:A50.40|ICD9:090.5 owl:Class HP:0000648 biolink:NamedThing Optic atrophy Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. tmpaxzxjjyw_mondo_relaxed.owl Optic nerve atrophy|Optic-nerve degeneration UMLS:C0029124|SNOMEDCT_US:76976005|MSH:D009896 The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. HP:0007751|HP:0007855 human_phenotype owl:Class UBERON:0006562 biolink:NamedThing pharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004681 biolink:NamedThing vestibular system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002105 biolink:NamedThing vestibulo-auditory system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012498 biolink:NamedThing serosa of appendix tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004708 biolink:NamedThing paired limb/fin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019903 biolink:NamedThing ring chromosome 2 Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). tmpaxzxjjyw_mondo_relaxed.owl chromosome 2 ring|Ring chromosome type 2|Ring chromosome 2 syndrome|R2|Ring 2|rose cluster 2 Orphanet:96171|UMLS:C4707448|SCTID:765485000|ICD10:Q93.2|NCIT:C121981|GARD:0010837 https://rarediseases.info.nih.gov/diseases/10837/ring-chromosome-2 owl:Class MONDO:0007033 biolink:NamedThing abducens nerve palsy Paralysis of the abducens nerve. tmpaxzxjjyw_mondo_relaxed.owl disorder of abducent nerve|lateral rectus muscle denervation paresis|abducens nerve cranial nerve palsy|cranial mononeuropathy VI|6th nerve palsy|sixth nerve palsy|abducens palsy|sixth cranial nerve palsy|VIth nerve disorder|cranial nerve palsy of abducens nerve|VIth nerve paralysis|sixth cranial nerve disorder|abducens nerve disease|sixth nerve paralysis|sixth or abducens nerve palsy|cranial nerve VI palsy|VI nerve palsy|abducent nerve paralysis|abducens nerve weakness|lateral rectus muscle innervation disorder SCTID:398963001|GARD:0009482|DOID:10865|NCIT:C27592|ICD9:378.54|OMIM:100200|ICD10:H49.2 owl:Class UBERON:0001646 biolink:NamedThing abducens nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013842 biolink:NamedThing cortisone reductase deficiency 2 Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency. tmpaxzxjjyw_mondo_relaxed.owl cortisone reductase deficiency type 2|11-beta-hydroxysteroid dehydrogenase type 1 deficiency|CORTRD2|cortisone reductase deficiency caused by mutation in HSD11B1|HSD11B1 cortisone reductase deficiency|cortisone reductase deficiency 2 NCIT:C131084|Orphanet:168588|UMLS:C3553382|DOID:0090140|OMIM:614662 owl:Class HGNC:5208 biolink:NamedThing HSD11B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001169 biolink:NamedThing wall of large intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024387 biolink:NamedThing benign ovarian sex cord-stromal tumor A sex cord-stromal tumor arising from the ovary, without metastatic potential. tmpaxzxjjyw_mondo_relaxed.owl ovarian sex cord-stromal tumor, benign|benign ovarian Sex cord-stromal neoplasm|benign Sex cord-stromal neoplasm of the ovary|benign ovarian Sex cord-stromal tumor|Sex cord stromal tumor, benign|benign Sex cord-stromal neoplasm of ovary|ovarian SEX cord-stromal tumor, benign|benign Sex cord-stromal tumor of ovary|benign Sex cord-stromal tumor of the ovary NCIT:C6803|UMLS:C1332528|DOID:0080370 owl:Class UBERON:0004670 biolink:NamedThing ependyma tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003558 biolink:NamedThing diencephalon arachnoid mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002097 biolink:NamedThing skin of body tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000509 biolink:NamedThing non-syndromic intellectual disability An intellectual disability that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl isolated intellectual disability|nonsyndromic intellectual disability OMIM:614202|DOID:0050889 owl:Class MONDO:0021128 biolink:NamedThing has an isolated presentation An characteristic of a disease in which the disease is manifested as an isolated feature. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013014 biolink:NamedThing spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. tmpaxzxjjyw_mondo_relaxed.owl SEMDAG|spondyloepimetaphyseal dysplasia, aggrecan type|SEMD, aggrecan type GARD:0010513|ICD10:Q77.7|MESH:C567558|SCTID:719165004|OMIM:612813|Orphanet:171866|UMLS:C2748544 https://rarediseases.info.nih.gov/diseases/10513/spondyloepimetaphyseal-dysplasia-aggrecan-type owl:Class HGNC:319 biolink:NamedThing ACAN tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012499 biolink:NamedThing serosa of uterine tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001456 biolink:NamedThing face tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032910 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 34 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34|MC1DN34 OMIM:618776 owl:Class HGNC:33551 biolink:NamedThing NDUFAF8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006207 biolink:NamedThing aortico-pulmonary spiral septum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002333 biolink:NamedThing pulmonary trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013390 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2Q Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency|limb-girdle muscular dystrophy type 2Q|muscular dystrophy, limb-girdle, type 2Q|LGMD2Q GARD:0012542|DOID:0110285|UMLS:C3150989|OMIM:613723|Orphanet:254361|ICD10:G71.0 owl:Class HGNC:9069 biolink:NamedThing PLEC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018389 biolink:NamedThing male infertility due to gonadal dysgenesis or sperm disorder tmpaxzxjjyw_mondo_relaxed.owl Male infertility due to testicular dysgenesis or sperm disorder 2022-03-01 Orphanet:399764|UMLS:CN227337|ICD10:N46 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class UBERON:0001243 biolink:NamedThing serosa of intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014565 biolink:NamedThing cataract 43 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the UNC45B gene. tmpaxzxjjyw_mondo_relaxed.owl UNC45B early-onset non-syndromic cataract|cataract 43|CTRCT43|cataract type 43|early-onset non-syndromic cataract caused by mutation in UNC45B Orphanet:98991|Orphanet:91492|DOID:0110259|ICD10:Q12.0|UMLS:C4225389|OMIM:616279 owl:Class HGNC:14304 biolink:NamedThing UNC45B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012356 biolink:NamedThing pedal acropodium region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012142 biolink:NamedThing pedal digitopodium region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001498 biolink:NamedThing muscle of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013838 biolink:NamedThing coenzyme Q10 deficiency, primary, 3 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene. tmpaxzxjjyw_mondo_relaxed.owl coenzyme Q10 deficiency, primary, type 3|coenzyme Q10 deficiency, primary, 3|coenzyme Q10 deficiency caused by mutation in PDSS2|PDSS2 coenzyme Q10 deficiency|COQ10D3 OMIM:614652|Orphanet:255249|UMLS:C3553358|DOID:0070240 owl:Class HGNC:23041 biolink:NamedThing PDSS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043020 biolink:NamedThing NADPH oxidase complex A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2. tmpaxzxjjyw_mondo_relaxed.owl respiratory-burst oxidase|flavocytochrome b558 owl:Class GO:0005887 biolink:NamedThing integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpaxzxjjyw_mondo_relaxed.owl integral to plasma membrane owl:Class UBERON:0002270 biolink:NamedThing hyaloid artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015646 biolink:NamedThing orgasm-induced seizures Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200056|ICD10:G40.8|Orphanet:166421 owl:Class UBERON:0004341 biolink:NamedThing primitive streak tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001723 biolink:NamedThing tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002419 biolink:NamedThing transient tic disorder A neurological disorder presenting in childhood that is characterized by motor and/or phonic tics that occur daily or nearly daily for one to twelve months and are not attributed to an identifiable cause. tmpaxzxjjyw_mondo_relaxed.owl benign Tic disorder of childhood NCIT:C116767|SCTID:56573006|MESH:D013981|ICD9:307.21|DOID:2768|ICD10:F95.0 owl:Class UBERON:0007195 biolink:NamedThing stroma of bone marrow tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002240 biolink:NamedThing marrow fibroblast A fibroblast in the bone marrow. tmpaxzxjjyw_mondo_relaxed.owl FMA:84377 tmeehan 2010-09-07T02:25:18Z cell owl:Class MONDO:0002198 biolink:NamedThing vulvar glandular neoplasm A benign or malignant neoplasm that arises from the vulva and is composed of glandular epithelial cells. Representative examples include adenoma of the minor vestibular glands, Bartholin gland adenoma, and Bartholin gland adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl vulvar glandular tumor|mammalian vulva glandular cell neoplasm|vulvar glandular neoplasm DOID:2076|NCIT:C40292|UMLS:C1520082 owl:Class CHEBI:25248 biolink:NamedThing methyl ester Any carboxylic ester resulting from the formal condensation of a carboxy group with methanol. tmpaxzxjjyw_mondo_relaxed.owl carboxylic acid methyl ester|carboxylic acid methyl esters owl:Class CHEBI:17790 biolink:NamedThing methanol The primary alcohol that is the simplest aliphatic alcohol, comprising a methyl and an alcohol group. tmpaxzxjjyw_mondo_relaxed.owl spirit of wood|Methanol|Methyl alcohol|MeOH|METHANOL|carbinol|wood alcohol|wood naphtha|Methylalkohol|methanol|CH3OH|wood spirit owl:Class UBERON:0001287 biolink:NamedThing proximal convoluted tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011729 biolink:NamedThing stroke, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl stroke, susceptibility to, 1|stroke, susceptibility to, type 1|Strk1 OMIM:606799 owl:Class HGNC:8783 biolink:NamedThing PDE4D tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:57586 biolink:NamedThing biotinate Conjugate base of biotin arising from deprotonation of the carboxy group. tmpaxzxjjyw_mondo_relaxed.owl 5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoate|biotin|biotin anion owl:Class UBERON:0001144 biolink:NamedThing testicular vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000473 biolink:NamedThing testis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013888 biolink:NamedThing tremor, hereditary essential, 4 Any essential tremor in which the cause of the disease is a mutation in the FUS gene. tmpaxzxjjyw_mondo_relaxed.owl tremor, hereditary essential, type 4|tremor, hereditary essential, 4|FUS essential tremor|essential tremor caused by mutation in FUS|ETM4 UMLS:C3539195|DOID:0111431|OMIM:614782 owl:Class HGNC:4010 biolink:NamedThing FUS tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11799 biolink:NamedThing THRB tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010606 biolink:NamedThing Hordeolum An acute purulent infection of the sebaceous glands of Zeis at the base of the eyelashes, of the apocrine sweat glands of Moll or the meibomian sebacious glands often caused by staphylococcus infections. Hordeola can either occur as Hordeola externa affecting the sebaceous glands of Zeis or the apocrine sweat glands of Moll or as Hordeola interna affecting the meibomian sebacious glands. In contrast to chalazia, hordeola are extremely painful and can cause extreme local swelling. tmpaxzxjjyw_mondo_relaxed.owl Stye of eyelid|Red bump on eyelid MSH:D006726|UMLS:C0019917|UMLS:C4280376|SNOMEDCT_US:397513003|SNOMEDCT_US:1489008 sandra1 2009-10-27T11:01:13Z human_phenotype owl:Class HP:0000829 biolink:NamedThing Hypoparathyroidism A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. tmpaxzxjjyw_mondo_relaxed.owl Decreased parathyroid hormone secretion|Low parathyroid hormone SNOMEDCT_US:36976004|UMLS:C0020626|MSH:D007011 HP:0000856|HP:0008292 human_phenotype owl:Class MONDO:0002565 biolink:NamedThing myelitis An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence. tmpaxzxjjyw_mondo_relaxed.owl spinal cord inflammation|inflammation of spinal cord MESH:D009187|UMLS:C0026975|EFO:1001472|GARD:0007130|DOID:322|SCTID:41370002|ICD9:323.9|NCIT:C26832 https://rarediseases.info.nih.gov/diseases/7130/myelitis owl:Class MONDO:0011031 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 10 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant 10|autosomal dominant nonsyndromic deafness caused by mutation in EYA4|deafness, autosomal dominant type 10|autosomal dominant nonsyndromic deafness type 10|autosomal dominant nonsyndromic deafness 10|EYA4 autosomal dominant nonsyndromic deafness|DFNA10|autosomal dominant deafness 10 ICD10:H90.3|MESH:C563354|DOID:0110542|UMLS:C1832476|OMIM:601316 owl:Class HGNC:3522 biolink:NamedThing EYA4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005984 biolink:NamedThing subendocardium layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013717 biolink:NamedThing asphyxiating thoracic dystrophy 5 Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene. tmpaxzxjjyw_mondo_relaxed.owl short-rib thoracic dysplasia 5 with or without polydactyly|WDR19 Jeune syndrome|asphyxiating thoracic dystrophy 5|ATD5|Jeune syndrome caused by mutation in WDR19|SRTD5|asphyxiating thoracic dystrophy type 5 Orphanet:474|ICD10:Q77.2|UMLS:C3280598|DOID:0110089|OMIM:614376 owl:Class HGNC:18340 biolink:NamedThing WDR19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014221 biolink:NamedThing triosephosphate isomerase deficiency Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration. tmpaxzxjjyw_mondo_relaxed.owl TPI deficiency|triosephosphate isomerase deficiency|TPID|triose phosphate-isomerase deficiency SCTID:234405009|UMLS:C1860808|GARD:0005287|OMIM:615512|Orphanet:868|MESH:C566029|NCIT:C131652|ICD9:282.3|DOID:0050884|ICD10:D55.2 https://rarediseases.info.nih.gov/diseases/5287/triosephosphate-isomerase-deficiency owl:Class UBERON:0005305 biolink:NamedThing thyroid follicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011595 biolink:NamedThing nonsyndromic congenital nail disorder 7 tmpaxzxjjyw_mondo_relaxed.owl COIF syndrome|congenital onychodysplasia of the index fingers|Iso-Kikuchi syndrome|nail dysplasia, isolated congenital|nonsyndromic congenital nail disorder type 7|onychodysplasia, isolated congenital|isolated congenital nail dysplasia|isolated congenital onychodysplasia|COIF|congenital isolated nail dysplasia|NDNC7|nail disorder, nonsyndromic congenital, 7 OMIM:605779|MESH:C538333|ICD10:Q84.6|Orphanet:79144|SCTID:403281007|DOID:0080085|UMLS:C1853984|GARD:0009761 Editor note: Orphanet classifies as both syndromic and isolated. See https://github.com/monarch-initiative/mondo-build/issues/49 owl:Class MONDO:0021140 biolink:NamedThing congenital A characteristic of a disease in which the disease is present at birth, regardless of cause. tmpaxzxjjyw_mondo_relaxed.owl inborn owl:Class MONDO:0005991 biolink:NamedThing trench fever An intermittent fever characterized by intervals of chills, fever, and splenomegaly each of which may last as long as 40 hours. It is caused by bartonella quintana and transmitted by the human louse. tmpaxzxjjyw_mondo_relaxed.owl shin bone fever|Bartonella quintana caused disease or disorder|trench fevers|Bartonella quintana infectious disease|tibialgic fever|bartonellosis due to Bartonella quintana infection|fever, trench|quintan fever|fevers, trench|Bartonella quintana disease or disorder|trench fever|Wolhynian fever|His-Werner disease ICD9:083.1|UMLS:C0040830|ICD10:A79.0|Orphanet:64694|MESH:D014205|SCTID:82214002|MedDRA:10044582|DOID:11101|EFO:0007519 owl:Class OBO:CHR_9606-chr12p1 biolink:NamedThing 12p1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 35500000 0 hg38 owl:Class UBERON:0009713 biolink:NamedThing endocardium of left ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006566 biolink:NamedThing left ventricle myocardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001468 biolink:NamedThing intervertebral joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001130 biolink:NamedThing vertebral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024279 biolink:NamedThing chronic endometritis A non-granulomatous or granulomatous chronic inflammation of the endometrium. Causes include sexually transmitted pathogens and gynecological procedures. Patients may present with irregular bleeding. tmpaxzxjjyw_mondo_relaxed.owl chronic endometritis|endometritis, chronic SCTID:63922003|UMLS:C0238104|NCIT:C102820 owl:Class MONDO:0007793 biolink:NamedThing hypochondroplasia Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints. tmpaxzxjjyw_mondo_relaxed.owl HCH|hypochondroplasia ICD10:Q77.4|Orphanet:429|OMIM:146000|GARD:0006724|ICD9:756.9|SCTID:205468002|MedDRA:10020967|DOID:0080041|NCIT:C118697|UMLS:C0410529|MESH:C562937 https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia owl:Class HGNC:3690 biolink:NamedThing FGFR3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014770 biolink:NamedThing palpebral artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001711 biolink:NamedThing eyelid tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000312 biolink:NamedThing keratinocyte An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell. tmpaxzxjjyw_mondo_relaxed.owl keratinized cell of epidermis|malpighian cell FMA:62879|BTO:0000667|CALOHA:TS-0500 Keratinocytes are reportedly CDw210a-negative, CDw210b-positive, CD281-positive, CD282-positive, CD285-positive, IL22Ra1-positive, Human keratinocytes are reportedly capable of secreting BD-2, BD-3, hCAP-18, CXCL1, CXCL5, CXCL8, elafin, MMP-3, NGAL, PDGF-A, S100A7, S100A8, and S100A9. Transcription factors: STAT3-positive. CL:0002185 cell owl:Class CHEBI:47622 biolink:NamedThing acetate ester Any carboxylic ester where the carboxylic acid component is acetic acid. tmpaxzxjjyw_mondo_relaxed.owl acetate|Acetyl ester|acetyl esters|Acetic ester|an acetyl ester|acetates|acetate esters owl:Class CHEBI:15366 biolink:NamedThing acetic acid A simple monocarboxylic acid containing two carbons. tmpaxzxjjyw_mondo_relaxed.owl ethoic acid|E260|Essigsaeure|Methanecarboxylic acid|INS No. 260|CH3-COOH|HOAc|E-260|Ethanoic acid|ACETIC ACID|Ethylic acid|E 260|CH3CO2H|acetic acid|MeCOOH|AcOH|MeCO2H|Acetic acid|acide acetique owl:Class UBERON:0001155 biolink:NamedThing colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013880 biolink:NamedThing facial paresis, hereditary congenital, 3 Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1|facial paresis, hereditary congenital, 3|HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome|HCFP3|facial paresis, hereditary congenital, type 3 OMIM:614744|UMLS:C3553625|Orphanet:306530 owl:Class HGNC:5111 biolink:NamedThing HOXB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03304511 biolink:NamedThing seafood newburg (dish) tmpaxzxjjyw_mondo_relaxed.owl SUBSET_SIREN:F4511 SIREN DB annotation: * has quality 'semiliquid with solid pieces' (http://purl.obolibrary.org/obo/FOODON_03430110) * has quality 'fully heat-treated' (http://purl.obolibrary.org/obo/FOODON_03440014) * derives from 'skeletal meat part, without bone or shell' (http://purl.obolibrary.org/obo/FOODON_03420125) * formed as a result of 'alcoholated' (http://purl.obolibrary.org/obo/FOODON_03460160) * has substance added 'spice or herb added' (http://purl.obolibrary.org/obo/FOODON_03460151) * has substance added http://purl.obolibrary.org/obo/FOODON_03460185 * has substance added 'dairy product added' (http://purl.obolibrary.org/obo/FOODON_03460242) * immersed in 'packed in gravy or sauce' (http://purl.obolibrary.org/obo/FOODON_03480034) http://langual.org subset_siren owl:Class Nc712cb06b764436db7b40bd7edf6a57a biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007007 biolink:NamedThing Ureaplasma urethritis Infections with bacteria of the genus ureaplasma. tmpaxzxjjyw_mondo_relaxed.owl Ureaplasma disease or disorder|Ureaplasma infectious disease|Ureaplasma infection|infections, Ureaplasma|Ureaplasma caused disease or disorder|infection, Ureaplasma SCTID:51105006|MESH:D016869|EFO:1001225 owl:Class NCBITaxon:2129 biolink:NamedThing Ureaplasma tmpaxzxjjyw_mondo_relaxed.owl PMID:8782697|PMID:11034506|GC_ID:4|PMID:2223597|PMID:1906731 ncbi_taxonomy owl:Class OBO:CHR_9606-chr1q biolink:NamedThing 1q (Human) tmpaxzxjjyw_mondo_relaxed.owl 248956422 123400000 hg38 owl:Class GO:0008283 biolink:NamedThing cell population proliferation The multiplication or reproduction of cells, resulting in the expansion of a cell population. tmpaxzxjjyw_mondo_relaxed.owl cell proliferation owl:Class MONDO:0012012 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate C Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, dominant Intermediate C|Di-Cmtc|DI-CMTC|Charcot-Marie-Tooth disease dominant intermediate type C|Charcot-Marie-Tooth disease, dominant intermediate C|YARS Charcot-Marie-Tooth disease|YARS-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth neuropathy dominant intermediate C|Charcot-Marie-Tooth disease, dominant Intermediate type C|autosomal dominant intermediate Charcot-Marie-Tooth disease type C|Charcot-Marie-Tooth disease caused by mutation in YARS|CMTDIC GARD:0012439|UMLS:C1842237|SCTID:765746008|ICD10:G60.0|Orphanet:100045|DOID:0110199|MESH:C564257|OMIM:608323 owl:Class HGNC:12840 biolink:NamedThing YARS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001017 biolink:NamedThing central nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045579 biolink:NamedThing positive regulation of B cell differentiation Any process that activates or increases the frequency, rate or extent of B cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl stimulation of B cell differentiation|up-regulation of B cell differentiation|positive regulation of B cell development|positive regulation of B lymphocyte differentiation|positive regulation of B-lymphocyte differentiation|upregulation of B cell differentiation|up regulation of B cell differentiation|activation of B cell differentiation|positive regulation of B-cell differentiation owl:Class GO:0030183 biolink:NamedThing B cell differentiation The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl B-cell differentiation|B cell development|B-lymphocyte differentiation|B lymphocyte differentiation owl:Class MONDO:0023099 biolink:NamedThing FRAXD syndrome tmpaxzxjjyw_mondo_relaxed.owl FRAXD GARD:0002377 https://rarediseases.info.nih.gov/diseases/2377/fraxd owl:Class OBO:CHR_9606-chrXq27.2 biolink:NamedThing Xq27.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 143000000 141200000 hg38 owl:Class PATO:0001563 biolink:NamedThing increased mass A mass which is higher than normal or average. tmpaxzxjjyw_mondo_relaxed.owl large mass|high mass owl:Class MONDO:0011895 biolink:NamedThing idiopathic hypereosinophilic syndrome tmpaxzxjjyw_mondo_relaxed.owl hypereosinophilic syndrome, idiopathic|HES UMLS:C0206141|SCTID:423294001|ICD10:D47.5|OMIM:607685|Orphanet:3260 owl:Class MONDO:0700005 biolink:NamedThing idiopathic A disease characteristic in which the disease has an uncertain or unknown cause. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:393 biolink:NamedThing AKT3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005352 biolink:NamedThing spermatic cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004054 biolink:NamedThing internal male genitalia tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012885 biolink:NamedThing SRD5A3-CDG SRD5A3-CDG is a rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. tmpaxzxjjyw_mondo_relaxed.owl CDG1Q|CDGIq|CDG-Iq|congenital disorder of glycosylation, type Iq|congenital disorder of glycosylation type Iq|CDG syndrome type Iq|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|SRD5A3-CDG (CDG-Iq)|congenital disorder of glycosylation type 1q|congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency|CDG Iq SCTID:733601006|Orphanet:324737|OMIM:612379|GARD:0012397|UMLS:C3150191|DOID:0080568|UMLS:C4317224|ICD10:E77.8 owl:Class HGNC:25812 biolink:NamedThing SRD5A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000095 biolink:NamedThing cardiac neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012592 biolink:NamedThing osteogenesis imperfecta type 11 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene. tmpaxzxjjyw_mondo_relaxed.owl OI11|osteogenesis imperfecta, type 11|OI, type 11|FKBP10 osteogenesis imperfecta|osteogenesis imperfecta, type XI|OI type 11|osteogenesis imperfecta type XI|OI type XI|osteogenesis imperfecta caused by mutation in FKBP10 DOID:0110351|Orphanet:216820|Orphanet:666|UMLS:C3151218|Orphanet:216812|GARD:0012875|OMIM:610968|ICD10:Q78.0 owl:Class HGNC:18169 biolink:NamedThing FKBP10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000169 biolink:NamedThing type B pancreatic cell A cell that secretes insulin and is located towards the center of the islets of Langerhans. tmpaxzxjjyw_mondo_relaxed.owl beta cell islet|type B enteroendocrine cell|pancreatic beta cell|insulin-secreting cell|pancreatic B cell|pancreatic islet core|beta cell of pancreatic islet|pancreatic B-cell|beta cell|B-cell of pancreatic islet FMA:70586|ncithesaurus:Beta_Cell|MA:0002419|EV:0200009|BTO:0000783 Pancreatic beta cells are also reportedly CD284-positive. Upon activation, they upregulate their CD14 expression. cell owl:Class CHEBI:16874 biolink:NamedThing psychosine A glycosylsphingoid consisting of sphingosine having a beta-D-galactosyl residue attached at the 1-position. tmpaxzxjjyw_mondo_relaxed.owl Psychosine|O-Galactosylsphingosine|(2S,3R,4E)-2-amino-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-ene|(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-en-1-yl beta-D-galactopyranoside|O-galactosylsphingosine|1-beta-D-galactosylsphingosine|1-O-beta-D-galactosylsphingosine|beta-psychosine|1-O-beta-D-galactopyranosylsphingosine|sphingosine galactoside|Galactosylsphingosine|1-beta-D-galactosphingosine owl:Class UBERON:0002012 biolink:NamedThing pulmonary artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:9001943 biolink:NamedThing exposure to food acidity regulator An exposure to food acidity regulator. tmpaxzxjjyw_mondo_relaxed.owl exposure to food acidity regulator owl:Class CHEBI:64049 biolink:NamedThing food acidity regulator A food additive that is used to change or otherwise control the acidity or alkalinity of foods. They may be acids, bases, neutralising agents or buffering agents. tmpaxzxjjyw_mondo_relaxed.owl acidity regulator|pH control agent|pH control agents|food acidity regulators|acidity regulators owl:Class MONDO:0044978 biolink:NamedThing disease of cell nucleus tmpaxzxjjyw_mondo_relaxed.owl 2022-04-01 Reason: grouping class. Term to consider: none owl:Class ECTO:0001591 biolink:NamedThing exposure to occupation An exposure event involving Occupation tmpaxzxjjyw_mondo_relaxed.owl Occupation exposure owl:Class MONDO:0013402 biolink:NamedThing retinitis pigmentosa 27 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene. tmpaxzxjjyw_mondo_relaxed.owl RP27|retinal Degeneration, autosomal recessive, Clumped pigment type|retinitis pigmentosa caused by mutation in NRL|retinitis pigmentosa 27|retinitis pigmentosa type 27|NRL retinitis pigmentosa UMLS:C1834329|DOID:0110397|ICD10:H35.5|MESH:C563526|OMIM:613750 owl:Class CL:2000068 biolink:NamedThing pericardium fibroblast Any fibroblast that is part of a pericardium. tmpaxzxjjyw_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6430 TermGenie 2014-10-07T18:38:06Z cell owl:Class HGNC:9020 biolink:NamedThing PKLR tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:22744 biolink:NamedThing benzyl group tmpaxzxjjyw_mondo_relaxed.owl C6H5-CH2-|phenylalanine side-chain|Bn|benzyl|phenylmethyl owl:Class MONDO:0012427 biolink:NamedThing Loeys-Dietz syndrome 2 A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2. tmpaxzxjjyw_mondo_relaxed.owl Loeys-Dietz syndrome 2|Loeys-Dietz syndrome type 2|Loeys-Dietz syndrome type II|Marfan syndrome, type II|LDS2|Marfan syndrome, type II, formerly|Loeys-Dietz syndrome caused by mutation in TGFBR2|aortic aneurysm, familial thoracic 3|TGFBR2 Loeys-Dietz syndrome Orphanet:284973|MESH:C537783|Orphanet:91387|DOID:0070234|GARD:0010586|Orphanet:60030|OMIM:610168|NCIT:C114768 owl:Class UBERON:0003354 biolink:NamedThing epithelium of rectum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001052 biolink:NamedThing rectum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003716 biolink:NamedThing recurrent laryngeal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001968 biolink:NamedThing semen tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042713 biolink:NamedThing sperm ejaculation The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:5003625 biolink:NamedThing manual digit 5 plus metapodial segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003625 biolink:NamedThing manual digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012546 biolink:NamedThing nephrotic syndrome, type 3 Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene. tmpaxzxjjyw_mondo_relaxed.owl NPHS3|nephrotic syndrome, type 3|nephrotic syndrome caused by mutation in PLCE1|PLCE1 nephrotic syndrome|nephrotic syndrome, early-onset, type 3 UMLS:C1853124|DOID:0080382|OMIM:610725 owl:Class HGNC:17175 biolink:NamedThing PLCE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006807 biolink:NamedThing nitrogen compound metabolic process The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. tmpaxzxjjyw_mondo_relaxed.owl nitrogen compound metabolism owl:Class OBO:CHR_9606-chr16q24.3 biolink:NamedThing 16q24.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 90338345 88700000 hg38 owl:Class OBO:CHR_9606-chr16q24 biolink:NamedThing 16q24 (Human) tmpaxzxjjyw_mondo_relaxed.owl 90338345 84100000 hg38 owl:Class MONDO:0013625 biolink:NamedThing Parkinson disease 17 Any Parkinson disease in which the cause of the disease is a mutation in the VPS35 gene. tmpaxzxjjyw_mondo_relaxed.owl Parkinson's disease 17|VPS35 Parkinson disease|autosomal dominant Parkinson disease 17|Parkinson disease type 17|PARK17|Parkinson disease 17|Parkinson disease caused by mutation in VPS35 OMIM:614203|UMLS:C3280133|DOID:0060897|Orphanet:411602 owl:Class HGNC:13487 biolink:NamedThing VPS35 tmpaxzxjjyw_mondo_relaxed.owl owl:Class PO:0009086 biolink:NamedThing endocarp A portion of plant tissue (PO:0009007) that is the innermost differentiated layer of a pericarp (PO:0009084). tmpaxzxjjyw_mondo_relaxed.owl portion of endocarp tissue (exact)|citrus pulp (related)|inner epidermis of pericarp (related)|endocarpo (Spanish, exact)|citrus flesh (related)|内果皮 (Japanese, exact) PO_GIT:511|PO_GIT:149 PO:0006047 plant_anatomy owl:Class UBERON:0004816 biolink:NamedThing larynx epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011877 biolink:NamedThing autosomal dominant osteopetrosis 1 Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault. tmpaxzxjjyw_mondo_relaxed.owl osteopetrosis, autosomal dominant, type 1|osteopetrosis, autosomal dominant 1|osteopetrosis (disease) caused by mutation in LRP5|OPTA1|osteopetrosis, autosomal dominant type 1|LRP5 osteopetrosis (disease)|autosomal dominant osteopetrosis type 1|osteopetrosis autosomal dominant type 1 MESH:C536056|ICD10:Q78.2|DOID:0110937|Orphanet:2783|GARD:0004151|OMIM:607634|UMLS:C1843330 owl:Class HGNC:6697 biolink:NamedThing LRP5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012843 biolink:NamedThing epilepsy, childhood absence, susceptibility to, 5 Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene. tmpaxzxjjyw_mondo_relaxed.owl epilepsy, childhood absence, susceptibility to, type 5|susceptibility to childhood absence epilepsy 5|childhood absence epilepsy caused by mutation in GABRB3|GABRB3 childhood absence epilepsy|epilepsy, childhood absence, susceptibility to, 5|ECA5 OMIM:612269|Orphanet:64280 owl:Class MONDO:0010826 biolink:NamedThing childhood absence epilepsy Childhood absence epilepsy (CAE) is a familial generalized pediatric epilepsy, characterized by very frequent (multiple per day) absence seizures, usually occurring in children between the ages of 4 and 10 years, with, in most cases, a good prognosis. tmpaxzxjjyw_mondo_relaxed.owl petit mal seizure|pyknolepsy|absence seizure SCTID:50866000|OMIM:611942|OMIM:607681|OMIM:611136|OMIMPS:600131|ICD10:G40.3|Orphanet:64280|DOID:1825|OMIM:612269|ICD10:G40.A|NCIT:C50436 owl:Class MONDO:0014336 biolink:NamedThing intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal dominant type 23|intellectual disability, autosomal dominant type 23|intellectual disability, autosomal dominant 23|MRD23|intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency|autosomal dominant non-syndromic intellectual disability 23|autosomal dominant intellectual disability 23|autosomal dominant mental retardation 23|mental retardation, autosomal dominant 23 Orphanet:404440|DOID:0070053|ICD10:Q87.0|UMLS:C3810406|OMIM:615761 owl:Class HGNC:25566 biolink:NamedThing SETD5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001014 biolink:NamedThing chronic leukemia A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. tmpaxzxjjyw_mondo_relaxed.owl adult chronic leukemia|CML|chronic leukemia|chronic leukemia (disease)|CLL|leukemia (disease), chronic ICD9:208.10|SCTID:92812005|NCIT:C3483|UMLS:C1279296|DOID:1036 owl:Class UBERON:0001729 biolink:NamedThing oropharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001042 biolink:NamedThing chordate pharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013314 biolink:NamedThing retinitis pigmentosa 56 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene. tmpaxzxjjyw_mondo_relaxed.owl RP56|retinitis pigmentosa type 56|maculopathy, Impg2-related|retinitis pigmentosa 56|IMPG2 retinitis pigmentosa|retinitis pigmentosa caused by mutation in IMPG2 ICD10:H35.5|DOID:0110371|Orphanet:791|UMLS:C3150819|OMIM:613581 owl:Class HGNC:18362 biolink:NamedThing IMPG2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000306 biolink:NamedThing fibroblast of tunica adventitia of artery A fibroblast that is part of the tunica adventitia of artery. tmpaxzxjjyw_mondo_relaxed.owl FMA:261285 cell owl:Class UBERON:0005734 biolink:NamedThing tunica adventitia of blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002123 biolink:NamedThing cortex of thymus tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:26214 biolink:NamedThing porphyrins Natural pigments containing a fundamental skeleton of four pyrrole nuclei united through the alpha-positions by four methine groups to form a macrocyclic structure. tmpaxzxjjyw_mondo_relaxed.owl porphyrins owl:Class CHEBI:23357 biolink:NamedThing cofactor An organic molecule or ion (usually a metal ion) that is required by an enzyme for its activity. It may be attached either loosely (coenzyme) or tightly (prosthetic group). tmpaxzxjjyw_mondo_relaxed.owl cofactor|cofactors owl:Class MONDO:0011032 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 11 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 11|autosomal dominant deafness 11|autosomal dominant nonsyndromic deafness 11|MYO7A autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in MYO7A|deafness, autosomal dominant 11|deafness, autosomal dominant type 11|DFNA11 OMIM:601317|UMLS:C1832475|DOID:0110543|ICD10:H90.3|Orphanet:90635|MESH:C563353 owl:Class HGNC:7606 biolink:NamedThing MYO7A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008422 biolink:NamedThing autosomal dominant sideroblastic anemia Autosomal dominant form of sideroblastic anemia. tmpaxzxjjyw_mondo_relaxed.owl SIDBA4|sideroblastic anemia, autosomal dominant|anemia, sideroblastic, 4|anemia, sideroblastic, autosomal dominant MESH:C567160|OMIM:182170|UMLS:C2674249|DOID:0060335 owl:Class HGNC:5244 biolink:NamedThing HSPA9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002359 biolink:NamedThing fibrous pericardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006815 biolink:NamedThing areolar connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:18291 biolink:NamedThing manganese atom tmpaxzxjjyw_mondo_relaxed.owl Mn|manganese|Mangan|Manganese|25Mn|manganum|manganeso owl:Class CHEBI:76971 biolink:NamedThing Escherichia coli metabolite Any bacterial metabolite produced during a metabolic reaction in Escherichia coli. tmpaxzxjjyw_mondo_relaxed.owl E.coli metabolite|E.coli metabolites|Escherichia coli metabolites owl:Class MONDO:0014744 biolink:NamedThing acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive type 21|spinocerebellar ataxia, autosomal recessive 21|autosomal recessive spinocerebellar ataxia type 21|SCAR21|autosomal recessive spinocerebellar ataxia 21 with hepatopathy|spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome|autosomal recessive spinocerebellar ataxia 21 DOID:0111155|OMIM:616719|Orphanet:466794|UMLS:C4225236 owl:Class HGNC:14372 biolink:NamedThing SCYL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002062 biolink:NamedThing type I pneumocyte A type I pneumocyte is a flattened, branched pneumocyte that covers more than 98% of the alveolar surface. This large cell has thin (50-100 nm) cytoplasmic extensions to form the air-blood barrier essential for normal gas exchange. tmpaxzxjjyw_mondo_relaxed.owl type I alveolar epithelial cells|squamous alveolar cell|type 1 pneumocyte|type I alveolar cells|membranous pneumocytes|AT1|type 1 alveolar epithelial cells|pulmonary alveolar type I cell|squamous alveolar lining cell|small alveolar cells|lung type 1 cells|ATI BTO:0000780|FMA:62500 tmeehan 2010-06-23T04:37:54Z cell owl:Class GO:0007585 biolink:NamedThing respiratory gaseous exchange by respiratory system The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. tmpaxzxjjyw_mondo_relaxed.owl breathing|respiration owl:Class CL:0000443 biolink:NamedThing calcitonin secreting cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class GO:0036161 biolink:NamedThing calcitonin secretion The regulated release of calcitonin, a peptide hormone that participates in calcium and phosphorus metabolism, from a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1966 biolink:NamedThing CHRNE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014018 biolink:NamedThing hereditary spastic paraplegia 54 A rare, complex form of hereditary spastic paraplegia characterized by the onset in early childhood of progressive spastic paraplegia associated with cerebellar signs, short stature, delayed psychomotor development, intellectual disability and, less commonly, foot contractures, dysarthria, dysphagia, strabismus and optic hypoplasia. SPG54 is caused by mutations in the DDHD2 gene (8p11.23) encoding phospholipase DDHD2. tmpaxzxjjyw_mondo_relaxed.owl DDHD2 autosomal recessive complex spastic paraplegia|SPG54|hereditary spastic paraplegia type 54|autosomal recessive complex spastic paraplegia caused by mutation in DDHD2|autosomal recessive spastic paraplegia type 54|spastic paraplegia 54, autosomal recessive|autosomal recessive spastic paraplegia 54 DOID:0110806|UMLS:C3539495|OMIM:615033|SCTID:723824005|Orphanet:320380|UMLS:C4510083|ICD10:G11.4 owl:Class HGNC:29106 biolink:NamedThing DDHD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002809 biolink:NamedThing pancreatic cystadenoma A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. tmpaxzxjjyw_mondo_relaxed.owl cystadenoma of pancreas|exocrine pancreas cystadenoma|pancreatic cystadenoma|cystadenoma of the pancreas SCTID:235967003|UMLS:C0341486|DOID:3918|NCIT:C4374 owl:Class UBERON:0000017 biolink:NamedThing exocrine pancreas tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020741 biolink:NamedThing pyridoxine-dependent epilepsy caused by ALDH7A1 mutant tmpaxzxjjyw_mondo_relaxed.owl Epd|epilepsy, pyridoxine-dependent|pyridoxine dependency with seizures|EPD|pyridoxine-dependent epilepsy caused by ALDH7A1 mutant|pyridoxine-dependent epilepsy|AASA dehydrogenase deficiency Orphanet:3006|UMLS:C1849508|OMIM:266100 owl:Class HGNC:877 biolink:NamedThing ALDH7A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000390 biolink:NamedThing lens nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005614 biolink:NamedThing lens anterior epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21219 biolink:NamedThing CILK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032108 biolink:NamedThing negative regulation of response to nutrient levels Any process that stops, prevents, or reduces the frequency, rate or extent of a response to nutrient levels. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of response to nutrient levels|down regulation of response to nutrient levels|inhibition of response to nutrient levels|downregulation of response to nutrient levels owl:Class GO:0031667 biolink:NamedThing response to nutrient levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004536 biolink:NamedThing lymph vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007213 biolink:NamedThing mesenchyme derived from head neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003099 biolink:NamedThing cranial neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000282 biolink:NamedThing Whitewater Arroyo hemorrhagic fever A viral infectious disease that is a hemorrhagic fever, has material basis in Whitewater Arroyo virus, which is transmitted by white-throated woodrats (Neotoma albigula). The infection has symptom fever, has symptom headache, has symptom myalgia, and has symptom hemorrhagic manifestations. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050199 owl:Class NCBITaxon:42408 biolink:NamedThing Neotoma albigula tmpaxzxjjyw_mondo_relaxed.owl white-throated woodrat GC_ID:1 ncbi_taxonomy owl:Class MONDO:0045020 biolink:NamedThing glycine metabolism disease A disease that has its basis in the disruption of glycine metabolic process. tmpaxzxjjyw_mondo_relaxed.owl glycine metabolic process disease|glycine metabolism disease|disorder of glycine metabolic process|disorder of glycine metabolism UMLS:C0268558|SCTID:83076007 owl:Class GO:0006544 biolink:NamedThing glycine metabolic process The chemical reactions and pathways involving glycine, aminoethanoic acid. tmpaxzxjjyw_mondo_relaxed.owl glycine metabolism owl:Class GO:0004565 biolink:NamedThing beta-galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides. tmpaxzxjjyw_mondo_relaxed.owl maxilact|S 2107|lactozym|beta-lactosidase activity|trilactase activity|sumiklat|beta-D-galactanase activity|hydrolact|beta-D-lactosidase activity|beta-D-galactoside galactohydrolase activity|exo-(1->4)-beta-D-galactanase activity|lactose hydrolysis|oryzatym owl:Class HP:0000729 biolink:NamedThing Autistic behavior Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. tmpaxzxjjyw_mondo_relaxed.owl Autism spectrum disorder|Autism spectrum disorders|ASD|Pervasive developmental disorder|Autistic behaviours|Autistic behaviour|Autistic behaviors UMLS:C1510586|UMLS:C0856975|MSH:D000067877 This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. human_phenotype owl:Class UBERON:0006245 biolink:NamedThing humerus cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000640 biolink:NamedThing planetary mantle A planetary mantle is a planetary layer which is an interior part of a terrestrial planet or other rocky body large enough to have differentiation by density. tmpaxzxjjyw_mondo_relaxed.owl mantle owl:Class ENVO:01000638 biolink:NamedThing planetary crust A planetary crust is the outermost solid shell of a rocky planet or natural satellite, which is chemically distinct from the underlying mantle. tmpaxzxjjyw_mondo_relaxed.owl crust owl:Class MONDO:0010310 biolink:NamedThing osteopathia striata with cranial sclerosis Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss. tmpaxzxjjyw_mondo_relaxed.owl OSCS|osteopathia striata with cranial sclerosis|osteopathia striata-cranial sclerosis syndrome|Robinow-Unger syndrome|osteopathia striata - cranial sclerosis|osteopathia striata cranial sclerosis|hyperostosis generalisata with striations MESH:C536053|Orphanet:2780|EFO:0005834|ICD9:733.99|ICD10:Q78.8|GARD:0004148|UMLS:C0432268|SCTID:254129003|OMIM:300373|DOID:0060886 owl:Class HGNC:26837 biolink:NamedThing AMER1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00000063 biolink:NamedThing water body An accumulation of water of varying size. tmpaxzxjjyw_mondo_relaxed.owl hydrographic feature|waterbody|bodies of water|aquatic feature|body of water owl:Class ENVO:01000819 biolink:NamedThing hydrosphere An astronomical body part which is composed of the combined mass of water found on, under, and over the surface of a planet. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6636 biolink:NamedThing LMNA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005828 biolink:NamedThing listeriosis A bacterial infection caused by Listeria monocytogenes. It occurs in newborns, elderly, and immunocompromised patients. The bacteria are transmitted through ingestion of contaminated food. Clinical manifestations include fever, muscle pain, respiratory distress, nausea, diarrhea, neck stiffness, irritability, seizures, and lethargy. tmpaxzxjjyw_mondo_relaxed.owl Listeria monocytogenes infectious disease|Listeria monocytogenes caused disease or disorder|Listeria monocytogenes disease or disorder|Listeria infection|Listeria monocytogenes infection|infection by Listeria monocytogenes MedDRA:10024641|ICD10:A32.9|EFO:0007347|NCIT:C82994|ICD10:A32.0|ICD9:027.0|ICD10:A32.7|ICD10:A32.1|Orphanet:533|DOID:11573|GARD:0006915|ICD10:A32.8|ICD10:A32|MESH:D008088|UMLS:C0023860 owl:Class MONDO:0003909 biolink:NamedThing Bartholin gland adenomyoma A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of a fibromuscular stroma and glands lined by mucin-secreting epithelial cells, arranged in a lobular architecture. tmpaxzxjjyw_mondo_relaxed.owl Bartholin gland adenomyoma|major vestibular gland adenomyoma|adenomyoma of major vestibular gland NCIT:C40300|UMLS:C1511049|DOID:6518 owl:Class CL:0000050 biolink:NamedThing megakaryocyte-erythroid progenitor cell A progenitor cell committed to the megakaryocyte and erythroid lineages. tmpaxzxjjyw_mondo_relaxed.owl Meg/E progenitor|megakaryocyte/erythrocyte progenitor|megakaryocyte/erythroid progenitor cell|CFU-EM|CFU-MegE|colony forming unit erythroid megakaryocyte|MEP MEPs are reportedly CD19-negative, CD34-negative, CD45RA-negative, CD110-positive, CD117-positive, and SCA1-negative and reportedly express the transcription factors GATA-1 and NF-E2. cell owl:Class GO:0030219 biolink:NamedThing megakaryocyte differentiation The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. tmpaxzxjjyw_mondo_relaxed.owl megakaryocyte cell differentiation owl:Class HGNC:2553 biolink:NamedThing CUL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030291 biolink:NamedThing protein serine/threonine kinase inhibitor activity Binds to and stops, prevents or reduces the activity of a protein serine/threonine kinase. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004674 biolink:NamedThing protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. tmpaxzxjjyw_mondo_relaxed.owl serine kinase activity|protein serine kinase activity|threonine-specific protein kinase activity|serine-specific protein kinase activity|serine(threonine) protein kinase activity|protein serine-threonine kinase activity|protein phosphokinase activity|protein kinase (phosphorylating) activity|serine/threonine protein kinase activity|protein-serine kinase activity|serine protein kinase activity owl:Class UBERON:0005867 biolink:NamedThing mandibular prominence tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000166 biolink:NamedThing oral opening tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007355 biolink:NamedThing bony part of pharyngotympanic tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002393 biolink:NamedThing pharyngotympanic tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000895 biolink:NamedThing snowfall A hydrological process in which irregular aggregates of snow fall to a planetary surface. tmpaxzxjjyw_mondo_relaxed.owl snow fall owl:Class HGNC:7001 biolink:NamedThing MEIS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16700 biolink:NamedThing ZFPM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014437 biolink:NamedThing Bardet-Biedl syndrome 9 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene. tmpaxzxjjyw_mondo_relaxed.owl BBS9|BBS9 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 9|Bardet-Biedl syndrome caused by mutation in BBS9|Bardet-Biedl syndrome 9 MESH:C565918|GARD:0010208|DOID:0110131|OMIM:209900|UMLS:C1859567|OMIM:615986|ICD10:Q87.89|EFO:0009027 https://rarediseases.info.nih.gov/diseases/10208/bardet-biedl-syndrome-9 owl:Class HGNC:30000 biolink:NamedThing BBS9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001016 biolink:NamedThing nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003841 biolink:NamedThing heart lipoma A rare benign adipose tissue neoplasm of the heart usually originating in the epicardial or pericardial fatty tissue. tmpaxzxjjyw_mondo_relaxed.owl lipoma of heart|heart lipoma|Cardiac lipoma|lipoma of the heart UMLS:C1332849|DOID:6285|NCIT:C6741 owl:Class UBERON:0000948 biolink:NamedThing heart tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004739 biolink:NamedThing pronephric glomerulus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036073 biolink:NamedThing respiratory primordium mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004873 biolink:NamedThing splanchnopleure tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:02000100 biolink:NamedThing mineral dust Dust which is derived from mineral material. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000355 biolink:NamedThing vegetation layer A layer which is determined by a form of vegetation. tmpaxzxjjyw_mondo_relaxed.owl forest stratum|woodland layer|forest layer|woodland stratum owl:Class NCBITaxon:33090 biolink:NamedThing Viridiplantae tmpaxzxjjyw_mondo_relaxed.owl green plants|chlorophyte/embryophyte group|Chloroplastida|Chlorobionta|Chlorophyta/Embryophyta group GC_ID:1|PMID:16248873|PMID:30257078 ncbi_taxonomy owl:Class MONDO:0019867 biolink:NamedThing mosaic trisomy 8 Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies. tmpaxzxjjyw_mondo_relaxed.owl trisomy 8 mosaicism|Mosaic trisomy chromosome 8|Warkany syndrome|Mosaic trisomy type 8 MESH:C537940|GARD:0005359|SCTID:717335009|MedDRA:10053916|Orphanet:96061|ICD10:Q92.1 https://rarediseases.info.nih.gov/diseases/5359/mosaic-trisomy-8 owl:Class MONDO:0016273 biolink:NamedThing malignant germ cell tumor of corpus uteri A malignant germ cell tumor that involves the body of uterus. tmpaxzxjjyw_mondo_relaxed.owl germ cell cancer of the corpus uteri|germ cell cancer of corpus uteri|body of uterus malignant germ cell tumor|malignant germ cell tumor of the corpus uteri UMLS:CN201062|Orphanet:213751|ICD10:C54.1|ICD10:C54.0|ICD10:C54.3|ICD10:C54.2|ICD10:C54.8 owl:Class MONDO:0003264 biolink:NamedThing basosquamous carcinoma A basal cell carcinoma which displays squamous differentiation. The neoplastic cells have more abundant cytoplasm with more marked keratinization than typical basal cell carcinomas. It usually has a more aggressive clinical course compared to typical basal cell carcinoma, and it may produce regional or widespread metastases. tmpaxzxjjyw_mondo_relaxed.owl skin mixed basal and squamous cell carcinoma|basosquamous tumor, malignant|basosquamous carcinoma|metatypical carcinoma (morphologic abnormality)|basosquamous cell carcinoma|skin basosquamous cell carcinoma|metatypical carcinoma|Basisquamous cell carcinoma EFO:1000529|UMLS:C0007118|MESH:D002281|SCTID:254702000|ICDO:8094/3|DOID:5063|NCIT:C2922 MONDO:0006413 owl:Class OBO:CHR_9606-chr8p23.1 biolink:NamedThing 8p23.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 12800000 6300000 hg38 owl:Class OBO:CHR_9606-chr8p23 biolink:NamedThing 8p23 (Human) tmpaxzxjjyw_mondo_relaxed.owl 12800000 0 hg38 owl:Class MONDO:0011386 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 1 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene. tmpaxzxjjyw_mondo_relaxed.owl nonproliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to|MVCD1|proliferative retinopathy, diabetic, susceptibility to|nephropathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in VEGFA|VEGFA microvascular complications of diabetes, susceptibility|end-stage renal disease, diabetic, susceptibility to|neuropathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 1|microvascular complications of diabetes, susceptibility to, 1|microvascular complications of diabetes, protection against OMIM:603933 owl:Class HGNC:12680 biolink:NamedThing VEGFA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014801 biolink:NamedThing even-plus syndrome tmpaxzxjjyw_mondo_relaxed.owl epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|even-plus syndrome|EVPLS|epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations UMLS:C4225180|OMIM:616854|Orphanet:496751 owl:Class MONDO:0008647 biolink:NamedThing hypertrophic cardiomyopathy 1 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. tmpaxzxjjyw_mondo_relaxed.owl CMH1|MYH7 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy 1|asymmetric septal Hypertrophy|cardiomyopathy, familial hypertrophic 1|Cmh|cardiomyopathy, familial hypertrophic, type 1|hypertrophic subaortic stenosis, idiopathic|hypertrophic cardiomyopathy type 1|hypertrophic cardiomyopathy caused by mutation in MYH7|ventricular Hypertrophy, hereditary|cardiomyopathy, familial hypertrophic, 1 DOID:0110307|OMIM:192600 owl:Class HGNC:7577 biolink:NamedThing MYH7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014209 biolink:NamedThing early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis. tmpaxzxjjyw_mondo_relaxed.owl SPG79|neurodegeneration with optic atrophy, childhood-onset|NDGOA|spastic paraplegia 79, autosomal recessive OMIM:615491|Orphanet:352654|UMLS:C3809665|ICD10:G31.8 owl:Class HGNC:12513 biolink:NamedThing UCHL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:17781 biolink:NamedThing lumichrome A compound showing blue fluorescence, formed by a photolysis of riboflavin in acid or neutral solution. tmpaxzxjjyw_mondo_relaxed.owl 7,8-dimethylbenzo[g]pteridine-2,4(1H,3H)-dione|lumichrome|LUMICHROME|7,8-Dimethylalloxazine|Lumichrome owl:Class CHEBI:76924 biolink:NamedThing plant metabolite Any eukaryotic metabolite produced during a metabolic reaction in plants, the kingdom that include flowering plants, conifers and other gymnosperms. tmpaxzxjjyw_mondo_relaxed.owl plant metabolites|plant secondary metabolites owl:Class UBERON:0002406 biolink:NamedThing pericardial sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002136 biolink:NamedThing eczematous dermatitis of eyelid tmpaxzxjjyw_mondo_relaxed.owl ICD10:H01.13|UMLS:C0155177|SCTID:36259009|ICD9:373.31|DOID:1893 owl:Class HP:0000964 biolink:NamedThing Eczema Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. tmpaxzxjjyw_mondo_relaxed.owl Eczema UMLS:C0013595|MSH:D004485|SNOMEDCT_US:281104002|SNOMEDCT_US:43116000 Eczema has several forms including atopic dermatitis, contact dermatitis, dyshidrotic eczema, nummular eczema, seborrheic dermatitis, and stasis dermatitis. HP:0001481 human_phenotype owl:Class GO:0045893 biolink:NamedThing positive regulation of transcription, DNA-templated Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. tmpaxzxjjyw_mondo_relaxed.owl upregulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|up regulation of transcription, DNA-dependent|activation of gene-specific transcription|stimulation of gene-specific transcription|up regulation of gene-specific transcription|upregulation of gene-specific transcription|stimulation of transcription, DNA-dependent|activation of transcription, DNA-dependent|positive regulation of gene-specific transcription|up-regulation of gene-specific transcription|up-regulation of transcription, DNA-dependent|transcription activator activity|positive regulation of cellular transcription, DNA-dependent owl:Class UBERON:0003098 biolink:NamedThing optic stalk tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003072 biolink:NamedThing optic cup tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002434 biolink:NamedThing pituitary stalk tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002198 biolink:NamedThing neurohypophysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016966 biolink:NamedThing partial trisomy of the long arm of chromosome 16 tmpaxzxjjyw_mondo_relaxed.owl chromosome 16q duplication|partial duplication of chromosome 16q|16q duplication|partial trisomy 16q|partial trisomy of the long arm of chromosome type 16|Duplication 16q|trisomy 16q|partial trisomy of chromosome 16q|partial duplication of the long arm of chromosome 16|16q trisomy UMLS:CN036363|MESH:C538042|GARD:0005316|Orphanet:262959 owl:Class OBO:CHR_9606-chr16q biolink:NamedThing 16q (Human) tmpaxzxjjyw_mondo_relaxed.owl 90338345 36800000 hg38 owl:Class CHEBI:50908 biolink:NamedThing hepatotoxic agent A role played by a chemical compound exihibiting itself through the ability to induce damage to the liver in animals. tmpaxzxjjyw_mondo_relaxed.owl hepatotoxicant|hepatoxicant|hepatotoxins|hepatotoxic agents|hepatotoxin|hepatotoxicants|agente hepatotoxico|hepatoxic agent owl:Class UBERON:0002422 biolink:NamedThing fourth ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002484 biolink:NamedThing epithelial melanocyte A melanocyte that produces pigment in the epithelium. tmpaxzxjjyw_mondo_relaxed.owl The text defintion reference to the MP term appears to reference an epidermal melanocyte term. This term represents any melanocyte in any epithelium. tmeehan 2010-12-03T03:17:14Z cell owl:Class UBERON:0001338 biolink:NamedThing urethral gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00010505 biolink:NamedThing aerosol Airborne solid particles (also called dust or particulate matter (PM)) or liquid droplets. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000797 biolink:NamedThing gaseous environmental material A material entity which is composed of one or more chemical entities and has neither independent shape nor volume but tends to expand indefinitely. tmpaxzxjjyw_mondo_relaxed.owl gas owl:Class ENVO:01000242 biolink:NamedThing desert scrubland A scrubland which is located in a desert. tmpaxzxjjyw_mondo_relaxed.owl desert scrub owl:Class ENVO:01000230 biolink:NamedThing arid An environmental condition in which annual precipitation is less than half of annual potential evapotranspiration. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001901 biolink:NamedThing epithelium of trachea tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003126 biolink:NamedThing trachea tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014684 biolink:NamedThing combined oxidative phosphorylation defect type 26 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TRMT5 gene. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency 26|TRMT5 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in TRMT5|combined oxidative phosphorylation deficiency type 26|COXPD26 EFO:0009036|DOID:0111490|Orphanet:477684|UMLS:C4225290|OMIM:616539 owl:Class MONDO:0012429 biolink:NamedThing Aicardi-Goutieres syndrome 2 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2B gene. tmpaxzxjjyw_mondo_relaxed.owl RNASEH2B Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 2|Aicardi-Goutieres syndrome 2|AGS2|RNASEH2B-related Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in RNASEH2B GARD:0010894|Orphanet:51|OMIM:610181|UMLS:C3489724 owl:Class HGNC:25671 biolink:NamedThing RNASEH2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003827 biolink:NamedThing thoracic segment bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000234 biolink:NamedThing Rickettsia parkeri spotted fever A spotted fever that has material basis in Rickettsia parkeri, which is transmitted by Gulf Coast tick (Amblyomma maculatum). The infection has symptom fever, has symptom headache, has symptom eschar, and has symptom rash. tmpaxzxjjyw_mondo_relaxed.owl maculatum infection DOID:0050051 owl:Class NCBITaxon:35792 biolink:NamedThing Rickettsia parkeri tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class HP:0003593 biolink:NamedThing Infantile onset Onset of signs or symptoms of disease between 28 days to one year of life. tmpaxzxjjyw_mondo_relaxed.owl Onset in first year of life|Infantile onset|Onset in infancy UMLS:C1848924 Onset of signs or symptoms of disease within the first 12 months of life. HP:0003594|HP:0003599|HP:0003672|HP:0003629|HP:0003667|HP:0003600|HP:0003579|HP:0003576|HP:0010573|HP:0003591|HP:0003631 human_phenotype owl:Class MONDO:0002678 biolink:NamedThing pediatric fibrosarcoma A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpaxzxjjyw_mondo_relaxed.owl pediatric fibrosarcoma|fibrosarcoma|childhood fibrosarcoma DOID:3520|UMLS:C0279981|NCIT:C8088 owl:Class HP:0011463 biolink:NamedThing Childhood onset Onset of disease at the age of between 1 and 5 years. tmpaxzxjjyw_mondo_relaxed.owl Symptoms begin in childhood UMLS:C1837352 This term refers to ages up to but not including the fifth birthday (see Juvenile onset). peter 2012-03-25T07:16:20Z HP:0003617|HP:0003586 human_phenotype owl:Class MONDO:0005050 biolink:NamedThing invasive ductal and lobular carcinoma An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive. tmpaxzxjjyw_mondo_relaxed.owl invasive ductal and lobular carcinoma|invasive duct and lobular carcinoma|infiltrating ductal and lobular carcinoma ICDO:8522/3|NCIT:C7688|EFO:0000552|UMLS:C1334277 owl:Class UBERON:0003984 biolink:NamedThing uterine tube infundibulum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000951 biolink:NamedThing rotator muscle of the vertebral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001077 biolink:NamedThing transverse process of vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009820 biolink:NamedThing osteoporosis-pseudoglioma syndrome Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures. tmpaxzxjjyw_mondo_relaxed.owl OPPG|pseudoglioma with bone fragility|osteogenesis imperfecta, ocular form|ocular form of osteogenesis imperfecta|osteoporosis-pseudoglioma syndrome|osteoporosis pseudoglioma syndrome|Ops|osteogenesis imperfecta ocular form ICD10:Q87.5|MESH:C536063|MedDRA:10052452|GARD:0004160|UMLS:C0432252|NCIT:C130998|DOID:0060849|Orphanet:2788|OMIM:259770 https://rarediseases.info.nih.gov/diseases/4160/osteoporosis-pseudoglioma-syndrome owl:Class MONDO:0004028 biolink:NamedThing small intestinal fibrosarcoma A usually aggressive malignant neoplasm arising from the small intestine. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpaxzxjjyw_mondo_relaxed.owl fibrosarcoma of small intestine|fibrosarcoma of the small intestine|fibrosarcoma, small intestine|small intestine fibrosarcoma|fibrosarcoma of the small bowel|small intestine fibrosarcoma (disease)|small intestinal fibrosarcoma|small bowel fibrosarcoma|fibrosarcoma of small bowel NCIT:C5336|UMLS:C1335994|DOID:6880 owl:Class UBERON:0002108 biolink:NamedThing small intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010254 biolink:NamedThing 2nd arch mesenchyme from neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000362 biolink:NamedThing renal medulla tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032276 biolink:NamedThing regulation of gonadotropin secretion Any process that modulates the frequency, rate or extent of the regulated release of a gonadotropin. tmpaxzxjjyw_mondo_relaxed.owl regulation of gonadotrophin secretion owl:Class GO:0032274 biolink:NamedThing gonadotropin secretion The regulated release of a gonadotropin, any hormone that stimulates the gonads, especially follicle-stimulating hormone and luteinizing hormone. tmpaxzxjjyw_mondo_relaxed.owl gonadotrophin secretion owl:Class UBERON:0003278 biolink:NamedThing skeleton of lower jaw tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013258 biolink:NamedThing autism, susceptibility to, 16 tmpaxzxjjyw_mondo_relaxed.owl autism, susceptibility to, 16|autism with or without seizures|AUTS16|susceptibility to autism 16|autism, susceptibility to, type 16 OMIM:613410 owl:Class MONDO:0005260 biolink:NamedThing autism Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. tmpaxzxjjyw_mondo_relaxed.owl autism (disease)|childhood autism|infantile autism|autism, susceptiblity to|autistic disorder|autistic disorder of childhood onset|autism spectrum disorder|autism|Kanner's syndrome autism (disease) ICD10:F84.0|DOID:12849|ICD9:299.0|OMIM:611913|HP:0000717|OMIM:615032|OMIM:300425|OMIM:300495|OMIM:611015|OMIM:611016|OMIM:615091|OMIM:608636|OMIM:300847|EFO:0003758|OMIM:608049|OMIM:610908|OMIM:300496|OMIM:612100|OMIM:613410|OMIM:300872|OMIM:300830|MESH:D001321|NCIT:C97161|OMIM:613436|OMIM:607373|OMIM:209850|OMIM:610836|OMIM:609378|OMIM:610676 owl:Class MONDO:0012729 biolink:NamedThing erythrocytosis, familial, 4 Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene. tmpaxzxjjyw_mondo_relaxed.owl familial polycythemia caused by mutation in EPAS1|erythrocytosis, familial, type 4|ECYT4|EPAS1 familial polycythemia|erythrocytosis, familial, 4 UMLS:C2673187|OMIM:611783|Orphanet:247511|DOID:0080339|MESH:C567086 owl:Class HGNC:3374 biolink:NamedThing EPAS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:443 biolink:NamedThing ALS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001821 biolink:NamedThing sebaceous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012456 biolink:NamedThing congenital primary aphakia Congenital primary aphakia (CPA) is characterised by an absence of the lens. The prevalence is unknown. CPA can be associated with variable secondary ocular defects (including aplasia/dysplasia of the anterior segment of the eye, microphthalmia, and in some cases absence of the iris, retinal dysplasia, or sclerocornea). CPA results from early developmental arrest, around the 4th-5th week of embryogenesis, which prevents the formation of any lens structure. Mutations in the FOXE3 gene were identified in three affected siblings born to consanguineous parents. tmpaxzxjjyw_mondo_relaxed.owl aphakia, congenital primary|congenital aphakia|congenital absence of lens|anterior segment dysgenesis 2|ASGD2|CPA SCTID:35387008|NCIT:C35172|Orphanet:83461|DOID:11367|ICD9:743.35|ICD10:Q12.3|OMIM:610256|MESH:C537786|MedDRA:10002947|GARD:0009952 owl:Class HGNC:3808 biolink:NamedThing FOXE3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100079 biolink:NamedThing developmental and epileptic encephalopathy, 6 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN1A gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 6|developmental and epileptic encephalopathy, 6|DEE6|EIEE6 OMIM:607208 EEEI6 is the OMIM placeholder for SCN1A-related severe epilepsies. The vast majority of SCN1A-related severe epilepsies, including Dravet syndrome, are not early infantile by definition, thereby creating a oxymoronic conflict within the ontology. We recommend describing the phenotype, ie Dravet syndrome, or the genetic eitology, ie SCN1A to represent the concept in question. This is distinct from MONDO:0011794 Dravet syndrome. See https://github.com/monarch-initiative/mondo/issues/745 http://orcid.org/0000-0001-5208-3432 owl:Class ENVO:01000817 biolink:NamedThing biosphere A biosphere is a part of an astronomical body which includes, as parts, all the living entities within the gravitational sphere of influence of that body, as well as the non-living and dead entities with which they interact. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013259 biolink:NamedThing Oguchi disease-2 Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene. tmpaxzxjjyw_mondo_relaxed.owl Oguchi disease 2|GRK1 Oguchi disease|CSNBO2|night blindness, congenital stationary, Oguchi type 2|Oguchi disease type 2|Oguchi disease caused by mutation in GRK1|congenital stationary night blindness Oguchi type 2 UMLS:C3150678|OMIM:613411|Orphanet:75382|DOID:0110713 owl:Class HGNC:10013 biolink:NamedThing GRK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000221 biolink:NamedThing ectodermal cell A cell of the outer of the three germ layers of the embryo. tmpaxzxjjyw_mondo_relaxed.owl ectoderm cell FMA:72549 cell owl:Class MONDO:0005099 biolink:NamedThing subarachnoid hemorrhage Intracranial hemorrhage into the subarachnoid space. tmpaxzxjjyw_mondo_relaxed.owl subarachnoid hemorrhage (disease)|subarachnoid hemorrhage subarachnoid hemorrhage (disease) UMLS:C0038525|MESH:D013345|SCTID:21454007|ICD9:430|HP:0002138|EFO:0000713|NCIT:C50757 owl:Class UBERON:0000315 biolink:NamedThing subarachnoid space tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006155 biolink:NamedThing colon neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpaxzxjjyw_mondo_relaxed.owl carcinoid tumor of colon|colon carcinoid tumor|colonic carcinoid tumor|carcinoid tumor of the colon|colon carcinoid tumor (disease)|colon neuroendocrine tumor, well differentiated, low grade|grade 1 neuroendocrine neoplasm of colon|colon neuroendocrine neoplasm G1|colon NET G1|colon neuroendocrine tumor G1 EFO:1000188|NCIT:C5497 owl:Class MONDO:0024491 biolink:NamedThing tumor grade 1, general grading system A morphologic qualifier indicating that a cancerous lesion is well differentiated. tmpaxzxjjyw_mondo_relaxed.owl well differentiated|G1|low grade|grade 1|grade I LOINC:LA9629-2|UMLS:C0475269|NCIT:C28077 owl:Class MONDO:0013118 biolink:NamedThing Nijmegen breakage syndrome-like disorder Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. tmpaxzxjjyw_mondo_relaxed.owl Nijmegen breakage syndrome-like disorder|RAD50 deficiency|microcephaly and chromosomal instability without immunodeficiency|NBs-like disorder|Rad50 deficiency|microcephaly and spontaneous chromosome instability without immunodeficiency|NBSLD UMLS:C2751318|MESH:C567767|SCTID:766753005|NCIT:C153178|OMIM:613078|Orphanet:240760 owl:Class HGNC:9816 biolink:NamedThing RAD50 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002453 biolink:NamedThing ethmoid sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020427 biolink:NamedThing Laubry-Pezzi syndrome Laubry-Pezzi syndrome is a rare, non-syndromic, congenital heart malformation characterized by the prolapse of an aortic valve cusp into a subjacent ventricular septal defect due to Venturi effect, resulting in aortic regurgitation. Patients typically present with symptoms of progressive aortic valve insufficiency, such as shortness of breath, heart palpitations, chest pain and exercise intolerance. tmpaxzxjjyw_mondo_relaxed.owl VSD with aortic insufficiency|ventricular septal defect with aortic insufficiency UMLS:CN207292|ICD10:Q21.0|SCTID:764955006|Orphanet:99094 owl:Class UBERON:0005725 biolink:NamedThing olfactory system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017578 biolink:NamedThing disorder of thiamine metabolism and transport tmpaxzxjjyw_mondo_relaxed.owl Orphanet:298644|UMLS:CN227150 owl:Class GO:0015888 biolink:NamedThing thiamine transport The directed movement of thiamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Thiamine is vitamin B1, a water soluble vitamin present in fresh vegetables and meats, especially liver. tmpaxzxjjyw_mondo_relaxed.owl vitamin B1 transport|thiamin transport owl:Class UBERON:0000955 biolink:NamedThing brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014674 biolink:NamedThing maturity-onset diabetes of the young type 14 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the APPL1 gene. tmpaxzxjjyw_mondo_relaxed.owl maturity-onset diabetes of the young (disease) caused by mutation in APPL1|APPL1 maturity-onset diabetes of the young (disease)|MODY14|maturity-onset diabetes of the young, type 14 OMIM:616511|UMLS:C4225299|DOID:0111111 owl:Class HGNC:24035 biolink:NamedThing APPL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001909 biolink:NamedThing renal tubular acidosis A group of genetic disorders of the kidney tubules characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic acidosis. Defective renal acidification of urine (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as hypokalemia, hypercalcinuria with nephrolithiasis and nephrocalcinosis, and rickets. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001126|ICD10:N25.89|OMIM:267200|GARD:0007552|NCIT:C28129|MESH:D000141|OMIM:602722|SCTID:1776003|OMIM:179830|DOID:14219|ICD9:588.89 https://rarediseases.info.nih.gov/diseases/7552/renal-tubular-acidosis owl:Class UBERON:0009773 biolink:NamedThing renal tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020455 biolink:NamedThing congenital partial agenesis of pericardium Congenital partial agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation mainly characterized by the partial absence of the left pericardium. It is occasionally associated with chest pain or dyspnea and is usually incidentally diagnosed during surgery or at autopsy. Herniation and strangulation of a portion of the heart through the pericardial foramen may occur, resulting in myocardial acute ischemia and possible sudden death. Right side pericardium involvement is rare. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99130|ICD10:Q24.8 owl:Class MONDO:0001702 biolink:NamedThing labia majora carcinoma A carcinoma that arises from the labia majora. tmpaxzxjjyw_mondo_relaxed.owl labia majora cancer|labium majora carcinoma|labia majora carcinoma|carcinoma of labia majora|carcinoma of the labia majora|carcinoma of labium majora NCIT:C9363|DOID:13389|UMLS:C1334356 owl:Class UBERON:0004085 biolink:NamedThing labium majora tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011229 biolink:NamedThing ethylmalonic encephalopathy Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and chronic diarrhoea associated with neurodevelopmental delay, psychomotor regression and hypotonia with brain magnetic resonance imaging (MRI) abnormalities. tmpaxzxjjyw_mondo_relaxed.owl encephalopathy, petechiae, and ethylmalonic aciduria|eme|EPEMA syndrome|encephalopathy, ethylmalonic|EE|syndrome of encephalopathy, petechiae, and ethylmalonic aciduria GARD:0002198|OMIM:602473|ICD10:G31.8|MESH:C535737|DOID:0060640|Orphanet:51188|SCTID:723307008|UMLS:C1865349 https://rarediseases.info.nih.gov/diseases/2198/ethylmalonic-encephalopathy owl:Class HGNC:23287 biolink:NamedThing ETHE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008038 biolink:NamedThing ataxia-pancytopenia syndrome Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia. tmpaxzxjjyw_mondo_relaxed.owl myelocerebellar disorder|ataxia-pancytopenia syndrome|ATXPC Orphanet:2585|MESH:C563233|GARD:0003865|ICD10:D61.0|OMIM:159550|UMLS:C1327919|SCTID:768556005 owl:Class HGNC:1349 biolink:NamedThing SAMD9L tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000752 biolink:NamedThing Hyperactivity Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. tmpaxzxjjyw_mondo_relaxed.owl More active than typical|Hyperactive behaviour|Hyperactive behavior UMLS:C0424295|SNOMEDCT_US:44548000|MSH:D006948 HP:0008764 human_phenotype owl:Class OBO:CHR_9606-chr3q13.31 biolink:NamedThing 3q13.31 (Human) tmpaxzxjjyw_mondo_relaxed.owl 117600000 113700000 hg38 owl:Class MONDO:0005905 biolink:NamedThing periodic limb movement disorder Excessive periodic leg movements during sleep that cause micro-arousals and interfere with the maintenance of sleep. This condition induces a state of relative sleep deprivation which manifests as excessive daytime hypersomnolence. The movements are characterized by repetitive contractions of the tibialis anterior muscle, extension of the toe, and intermittent flexion of the hip, knee and ankle. (Adams et al., Principles of Neurology, 6th ed, p387) tmpaxzxjjyw_mondo_relaxed.owl nocturnal myoclonus ICD10:G47.61|UMLS:C0751774|EFO:0007428|DOID:9207|SCTID:418763003|ICD9:327.51 owl:Class HP:0012323 biolink:NamedThing Sleep myoclonus Myoclonus that occurs during the initial phases of sleep. tmpaxzxjjyw_mondo_relaxed.owl MSH:D009207|UMLS:C0751352|SNOMEDCT_US:34101000119105 peter 2013-08-11T10:21:47Z human_phenotype owl:Class MONDO:0010452 biolink:NamedThing intellectual disability, X-linked 90 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene. tmpaxzxjjyw_mondo_relaxed.owl DLG3 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 90|intellectual disability, X-linked type 90|MRX90|non-syndromic X-linked intellectual disability caused by mutation in DLG3|mental retardation, X-linked type 90|mental retardation, X-linked 90 UMLS:C3275443|OMIM:300850 owl:Class HGNC:2902 biolink:NamedThing DLG3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001736 biolink:NamedThing submandibular gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0061512 biolink:NamedThing protein localization to cilium A process in which a protein is transported to, or maintained in, a location within a cilium. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045647 biolink:NamedThing negative regulation of erythrocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of erythrocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of RBC differentiation|negative regulation of red blood cell differentiation|down-regulation of erythrocyte differentiation|inhibition of erythrocyte differentiation|downregulation of erythrocyte differentiation|down regulation of erythrocyte differentiation owl:Class GO:0030218 biolink:NamedThing erythrocyte differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. tmpaxzxjjyw_mondo_relaxed.owl red blood cell differentiation|RBC differentiation|erythropoiesis|erythrocyte cell differentiation owl:Class CHEBI:16709 biolink:NamedThing pyridoxine A hydroxymethylpyridine with hydroxymethyl groups at positions 4 and 5, a hydroxy group at position 3 and a methyl group at position 2. The 4-methanol form of vitamin B6, it is converted intoto pyridoxal phosphate which is a coenzyme for synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid. tmpaxzxjjyw_mondo_relaxed.owl 5-hydroxy-6-methyl-3,4-pyridinedimethanol|pyridoxinum|3-hydroxy-4,5-bis(hydroxymethyl)-2-methylpyridine|piridossina|pyridoxine|2-Methyl-3-hydroxy-4,5-dihydroxymethyl-pyridin|2-methyl-3-hydroxy-4,5-di(hydroxymethyl)pyridine|pyridoxolum|2-methyl-4,5-dimethylol-pyridin-3-ol|pyridoxina|3-hydroxy-2-picoline-4,5-dimethanol|2-methyl-3-hydroxy-4,5-dihydroxymethylpyridine|vitamin B6|2-methyl-4,5-bis(hydroxymethyl)-3-hydroxypyridine|2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine|4,5-bis(hydroxymethyl)-2-methylpyridin-3-ol|3-hydroxy-4,5-dimethylol-alpha-picoline|4,5-bis(hydroxymethyl)-2-methyl-pyridin-3-ol|Pyridoxol owl:Class CHEBI:75771 biolink:NamedThing mouse metabolite Any mammalian metabolite produced during a metabolic reaction in a mouse (Mus musculus). tmpaxzxjjyw_mondo_relaxed.owl Mus musculus metabolites|mouse metabolites|Mus musculus metabolite owl:Class UBERON:0000059 biolink:NamedThing large intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016887 biolink:NamedThing ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ Pi. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. tmpaxzxjjyw_mondo_relaxed.owl ATP monophosphatase activity|ATPase|ATP phosphohydrolase activity|adenosinetriphosphatase activity|ATP hydrolase activity|adenosine triphosphatase activity|adenosine 5'-triphosphatase activity owl:Class CHEBI:16150 biolink:NamedThing benzoate The simplest member of the class of benzoates that is the conjugate base of benzoic acid, comprising a benzoic acid core with a proton missing to give a charge of -1. tmpaxzxjjyw_mondo_relaxed.owl benzoate|benzoate anion|benzoic acid, ion(1-)|Phenylcarboxylate|Benzeneformate|Phenylformate|Benzenemethanoate|Benzenecarboxylate owl:Class MONDO:0013560 biolink:NamedThing Hermansky-Pudlak syndrome 8 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene. tmpaxzxjjyw_mondo_relaxed.owl Hermansky-Pudlak syndrome caused by mutation in BLOC1S3|BLOC1S3 Hermansky-Pudlak syndrome|HPS8|Hermansky-Pudlak syndrome type 8|Hermansky-Pudlak syndrome 8 Orphanet:79430|DOID:0060546|ICD10:E70.3|Orphanet:231537|UMLS:C3888026|OMIM:614077|UMLS:CN201510 owl:Class HGNC:20914 biolink:NamedThing BLOC1S3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004859 biolink:NamedThing eye gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6696 biolink:NamedThing LRP4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021329 biolink:NamedThing carcinoma of soft palate A carcinoma that arises from the soft palate. The majority are squamous cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl soft palate cancer|carcinoma of soft palate|carcinoma of the soft palate|soft palate carcinoma SCTID:254435009|UMLS:C0345555|NCIT:C8395 owl:Class UBERON:0001733 biolink:NamedThing soft palate tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20p1 biolink:NamedThing 20p1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 28100000 0 hg38 owl:Class UBERON:0013161 biolink:NamedThing left lateral ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016529 biolink:NamedThing cortex of cerebral lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002408 biolink:NamedThing parietal serous pericardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011853 biolink:NamedThing Camptosynpolydactyly, complex tmpaxzxjjyw_mondo_relaxed.owl camptopolydactyly, disorganization type|camptosynpolydactyly, complex|CCSPD MESH:C564383|OMIM:607539|UMLS:C1843758 owl:Class HGNC:35126 biolink:NamedThing BHLHA9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007383 biolink:NamedThing enveloping layer of ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:20772 biolink:NamedThing TUBB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001434 biolink:NamedThing skeletal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000182 biolink:NamedThing hepatocyte The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated. tmpaxzxjjyw_mondo_relaxed.owl BTO:0000575|CALOHA:TS-0454|FMA:14515 Hepatocytes are reportedly MHC Class I-positive and MHC Class II-positive. cell owl:Class GO:0098754 biolink:NamedThing detoxification Any process that reduces or removes the toxicity of a toxic substance. These may include transport of the toxic substance away from sensitive areas and to compartments or complexes whose purpose is sequestration of the toxic substance. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001245 biolink:NamedThing anus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004175 biolink:NamedThing endopeptidase activity Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. tmpaxzxjjyw_mondo_relaxed.owl endoprotease activity|elastase activity|proteasome endopeptidase activity|proteinase owl:Class MONDO:0010674 biolink:NamedThing mucopolysaccharidosis type 2 A lysosomal storage disease leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe to an attenuated form without neuronal involvement. tmpaxzxjjyw_mondo_relaxed.owl Hunter syndrome|sulfoiduronate sulfatase deficiency|mucopolysaccharidosis, MPS-II|mucopolysaccharidosis with skin involvement|MPS II|severe MPS II|mucopolysaccharidosis II|MPS 2|mucopolysaccharidosis type II|I2S deficiency|attenuated MPS (subtype; formerly known as mild MPS II)|SIDS deficiency|Hunter's syndrome|mucopolysaccharidosis, type II|mucopolysaccharidosis type 2|MPS with skin involvement|deficiency of iduronate-2-sulphatase|MPS II - Hunter syndrome|MPS2|IDS deficiency|iduronate 2-sulfatase deficiency|MPSII|mucopolysaccharidosis, type 2 Orphanet:79388|Orphanet:580|GARD:0006675|ICD10:E76.1|NCIT:C61260|UMLS:C0026705|DOID:12799|SCTID:70737009|MESH:D016532|MedDRA:10056889|OMIM:309900 owl:Class GO:0004423 biolink:NamedThing iduronate-2-sulfatase activity Catalysis of the hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin. tmpaxzxjjyw_mondo_relaxed.owl iduronide-2-sulfate sulfatase activity|iduronate-2-sulfate sulfatase activity|idurono-2-sulfatase activity|sulfoiduronate sulfohydrolase activity|L-idurono sulfate sulfatase activity|2-sulfo-L-iduronate 2-sulfatase activity|chondroitinsulfatase|L-iduronate-2-sulfate 2-sulfohydrolase activity|iduronate-2-sulphatase activity|iduronate sulfate sulfatase activity|sulfo-L-iduronate sulfatase activity|L-iduronosulfatase activity|L-iduronate 2-sulfate sulfatase activity|iduronate sulfatase activity owl:Class GO:0042060 biolink:NamedThing wound healing The series of events that restore integrity to a damaged tissue, following an injury. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042246 biolink:NamedThing tissue regeneration The regrowth of lost or destroyed tissues. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:23639 biolink:NamedThing TTC37 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr21q22.13-q22.2 biolink:NamedThing 21q22.13-q22.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class OBO:CHR_9606-chr21q biolink:NamedThing 21q (Human) tmpaxzxjjyw_mondo_relaxed.owl 46709983 12000000 hg38 owl:Class MONDO:0001284 biolink:NamedThing endometriosis of intestine Endometriosis that affects the intesines. tmpaxzxjjyw_mondo_relaxed.owl intestine endometriosis (disease)|endometriosis (disease) of intestine ICD9:617.5|SCTID:5562006|ICD10:N80.5|DOID:11428|UMLS:C0156347 owl:Class UBERON:0000160 biolink:NamedThing intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018672 biolink:NamedThing IgG4-related aortitis tmpaxzxjjyw_mondo_relaxed.owl IgG4-related periaortitis Orphanet:449400|ICD10:I77.6 owl:Class UBERON:0001350 biolink:NamedThing coccyx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000242 biolink:NamedThing tinea barbae A dermatophytosis that involves the beard. tmpaxzxjjyw_mondo_relaxed.owl dermatophytosis of beard|beard dermatophytosis DOID:0050096|SCTID:399329002|UMLS:C2349994 owl:Class NCBITaxon:63417 biolink:NamedThing Trichophyton verrucosum tmpaxzxjjyw_mondo_relaxed.owl Favotrichophyton verrucosum|Ectotrichophyton verrucosum GC_ID:1 ncbi_taxonomy owl:Class UBERON:0002318 biolink:NamedThing white matter of spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013366 biolink:NamedThing spondylocostal dysostosis 4, autosomal recessive Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene. tmpaxzxjjyw_mondo_relaxed.owl HES7 autosomal recessive spondylocostal dysostosis|Hes7 autosomal recessive spondylocostal dysostosis|spondylocostal dysostosis 4|SCDO4|autosomal recessive spondylocostal dysostosis caused by mutation in HES7|spondylocostal dysostosis 4, autosomal recessive|autosomal recessive spondylocostal dysostosis caused by mutation in Hes7 OMIM:613686|Orphanet:2311|GARD:0004976|UMLS:C3150942 owl:Class HGNC:15977 biolink:NamedThing HES7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006925 biolink:NamedThing Fusobacteriaceae infectious disease Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria. tmpaxzxjjyw_mondo_relaxed.owl Fusobacteriaceae caused disease or disorder|Fusobacteriaceae infection|infections, Fusobacteriaceae|infection, Fusobacteriaceae|Fusobacteriaceae disease or disorder MESH:D045825|UMLS:C1258222|EFO:1001126 owl:Class UBERON:0012314 biolink:NamedThing embryonic facial prominence tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0047291 biolink:NamedThing lactosylceramide alpha-2,3-sialyltransferase activity Catalysis of the reaction: cytolipin-H + CMP-N-acetylneuraminate = alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide + CMP. Alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide is also known as GM3. tmpaxzxjjyw_mondo_relaxed.owl cytidine monophosphoacetylneuraminate-lactosylceramide sialyltransferase|CMP-acetylneuraminate-lactosylceramide-sialyltransferase|ganglioside GM3 synthetase activity|CMP-sialic acid:lactosylceramide-sialyltransferase activity|GM3 synthetase activity|ganglioside GM3 synthase activity|CMP-N-acetylneuraminate:lactosylceramide alpha-2,3-N-acetylneuraminyltransferase activity|SAT 1|cytidine monophosphoacetylneuraminate-lactosylceramide alpha2,3- sialyltransferase activity|GM3 synthase activity|CMP-acetylneuraminic acid:lactosylceramide sialyltransferase activity owl:Class MONDO:0009211 biolink:NamedThing congenital factor VII deficiency Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor. tmpaxzxjjyw_mondo_relaxed.owl factor VII deficiency|congenital factor VII deficiency|F7 deficiency|hypoproconvertinemia|congenital proconvertin deficiency|factor 7 deficiency Orphanet:327|SCTID:37193007|UMLS:C1394919|MedDRA:10016079|GARD:0002238|DOID:2215|MESH:D005168|ICD10:D68.2|NCIT:C131631|OMIM:227500 owl:Class HP:0008169 biolink:NamedThing Reduced factor VII activity Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. tmpaxzxjjyw_mondo_relaxed.owl Factor VII deficiency MSH:D005168|SNOMEDCT_US:37193007|UMLS:C0015503|UMLS:C4024722 human_phenotype owl:Class PO:0009062 biolink:NamedThing gynoecium A collective phyllome structure (PO:0025023) composed all of the carpels (PO:0009030) in a flower (PO:0009046). tmpaxzxjjyw_mondo_relaxed.owl gynoecium of lower floret of pedicellate spikelet of ear (narrow)|Zea gynoecium (narrow)|gynoecia (exact, plural)|gynaecium (exact)|syncarpous gynoecium (narrow)|ginoecio (Spanish, exact)|apocarpous gynoecium (narrow)|pistil (broad)|gynoecium of ear floret (narrow)|gynoecium of lower floret of sessile spikelet of tassel (narrow)|gynoecium of lower floret of sessile spikelet of ear (narrow)|gynoecium of tassel floret (narrow)|gynoecium of upper floret of sessile spikelet of tassel (narrow)|gynoecium of lower floret of pedicellate spikelet of tassel (narrow)|gynoecium of upper floret of pedicellate spikelet of tassel (narrow)|gynoecium of upper floret of pedicellate spikelet of ear (narrow)|gynoecium of upper floret of sessile spikelet of ear (narrow)|雌蕊群 (Japanese, exact)|Poaceae gynoecium (narrow) PO_GIT:71|PO_GIT:470|PO_GIT:98 If annotating gene expression to a gynoecium with a single carpel (PO:0009030), the annotation should go on carpel. A gynoecium with two or more carpels may be either syncarpous (carpels fused) or apopcarpous (carpels free) or the carpels may be partially fused. The word pistil is used synonymously with gynoecium for a synocarpous gynoecium, and synonymously with carpel for an apocarpous gynoecium, whether it has one or more carpels. In Zea mays, gynoecia of tassel florets and of the lower florets of ear spikelets usually do not develop fully, and they are present in a rudimentary state. If you are annotating to this structure for Zea mays or other grasses, please also add an annotation to the corresponding floret type. Choose the most specific term possible from: spikelet floret (PO:0009082), ear floret (PO:0006354), lower floret of pedicellate spikelet of ear (PO:0006353), lower floret of sessile spikelet of ear (PO:0006351), upper floret of pedicellate spikelet of ear (PO:0006350), upper floret of sessile spikelet of ear (PO:0006352), tassel floret (PO:0006310), lower floret of pedicellate spikelet of tassel (PO:0006313), lower floret of sessile spikelet of tassel (PO:0006315), upper floret of pedicellate spikelet of tassel (PO:0006314), upper floret of sessile spikelet of tassel (PO:0006316). PO:0006317|PO:0006404|PO:0006391|PO:0006423|PO:0006365|PO:0006384|PO:0006394|PO:0006403|PO:0006425|PO:0006424|PO:0006426|PO:0025089|PO:0006357 plant_anatomy owl:Class PO:0009046 biolink:NamedThing flower A determinate reproductive shoot system (PO:0025082) that has as part at least one carpel (PO:0009030) or at least one stamen (PO:0009029) and does not contain any other determinate shoot system (PO:0009006) as a part. tmpaxzxjjyw_mondo_relaxed.owl flor (Spanish, exact)|basal flower (narrow)|double flower (narrow)|floret (related)|hermaphrodite flower (narrow)|Asteraceae floret (narrow)|perfect flower (narrow)|花 (Japanese, exact)|monoclinous flower (narrow) PO_GIT:160|PO_GIT:259 The characteristic reproductive structure of angiosperms. May have as part one or more petals, sepals or tepals. May contain one or more pistillode (PO:0009078), staminode (PO:0009077) or other aborted organs that don't show up in mature form. PO:0004541 plant_anatomy owl:Class MONDO:0014700 biolink:NamedThing neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation tmpaxzxjjyw_mondo_relaxed.owl AU-Kline syndrome|Au-Kline syndrome|AUKS|neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation UMLS:C4225274|UMLS:CN237748|OMIM:616580|Orphanet:453504 owl:Class HGNC:5044 biolink:NamedThing HNRNPK tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001891 biolink:NamedThing midbrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009616 biolink:NamedThing presumptive midbrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011748 biolink:NamedThing Usher syndrome type 1G Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene. tmpaxzxjjyw_mondo_relaxed.owl Usher syndrome type 1G|USH1G Usher syndrome|USH1G|Usher syndrome caused by mutation in USH1G|USHER syndrome, type Ig|Usher syndrome type Ig|Usher syndrome, type 1G Orphanet:886|DOID:0110834|MESH:C564643|OMIM:606943|UMLS:C1847089|ICD10:H35.5|Orphanet:231169 owl:Class HGNC:16356 biolink:NamedThing USH1G tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007691 biolink:NamedThing gustatory pore tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001727 biolink:NamedThing taste bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007999 biolink:NamedThing holoprosencephaly 2 A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene. tmpaxzxjjyw_mondo_relaxed.owl holoprosencephaly 2|HPE2|holoprosencephaly caused by mutation in SIX3|SIX3 holoprosencephaly|holoprosencephaly type 2 NCIT:C74995|MESH:C563579|OMIM:157170|DOID:0110872|UMLS:C1834877|Orphanet:2162 owl:Class HGNC:10889 biolink:NamedThing SIX3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012437 biolink:NamedThing cataract 21 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene. tmpaxzxjjyw_mondo_relaxed.owl MAF early-onset non-syndromic cataract|CCA4|cataract, congenital, cerulean type, 4|CTRCT21|cataract 21, multiple types|congenital cataract cerulean type 4|early-onset non-syndromic cataract caused by mutation in MAF|cataract 21 multiple types with or without microcornea|cataract 21, multiple types, with or without microcornea|cataract, pulverulent, juvenile-onset DOID:0110256|ICD10:Q12.0|OMIM:610202|Orphanet:98989|MESH:C565703|Orphanet:98984|Orphanet:91492 owl:Class HGNC:6776 biolink:NamedThing MAF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010200 biolink:NamedThing Wilson disease Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body. tmpaxzxjjyw_mondo_relaxed.owl Wnd|hepatolenticular degeneration|Westphal pseudosclerosis|cerebral pseudosclerosis|hepatolenticular Degeneration|Westphal-Strumpell syndrome|Wilson's disease|Wilson disease|WD MESH:D006527|DOID:893|UMLS:C0019202|NCIT:C84756|SCTID:88518009|Orphanet:905|OMIM:277900|MedDRA:10019819|GARD:0007893|ICD10:E83.0|ICD10:E83.01 https://rarediseases.info.nih.gov/diseases/7893/wilson-disease owl:Class HGNC:870 biolink:NamedThing ATP7B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000305 biolink:NamedThing amnion tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003254 biolink:NamedThing amniotic ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr1q21 biolink:NamedThing 1q21 (Human) tmpaxzxjjyw_mondo_relaxed.owl 155100000 143200000 hg38 owl:Class UBERON:0001081 biolink:NamedThing endocardium of ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018312 biolink:NamedThing histoplasmosis A disease caused by the fungus Histoplasma capsulatum. It primarily affects the lungs but can also occur as a disseminated disease that affects additional organs. The acute respiratory disease has symptoms similar to those of a cold or flu and it usually resolves without treatment in healthy individuals. The disseminated form is generally fatal if untreated. tmpaxzxjjyw_mondo_relaxed.owl Histoplasma caused disease or disorder|Histoplasma infectious disease|Histoplasma disease or disorder|darling disease ICD10:B39.2|ICD10:B39.1|SCTID:12962009|EFO:0007310|NCIT:C77201|MedDRA:10021808|ICD10:B39.4|ICD9:115|Orphanet:390|ICD10:B39.9|MedDRA:10020141|ICD9:115.90|ICD10:B39.5|ICD10:B39.3|DOID:1731|ICD10:B39|UMLS:C0019655|MESH:D006660|ICD10:B39.0|ICD9:115.9|ICD9:115.99 owl:Class NCBITaxon:5036 biolink:NamedThing Histoplasma tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005185 biolink:NamedThing chronic childhood arthritis An older, deprecated term that encompassed three major types of autoimmune or autoinflammatory arthritis in children: systemic-onset, pauciarticular, or polyarticular arthritis. The juvenile rheumatoid arthritis classification system has been replaced by the International League of Associations for Rheumatology (ILAR) juvenile idiopathic arthritis classification system. tmpaxzxjjyw_mondo_relaxed.owl Juvenile rheumatoid arthritis|Juvenile rheumatoid arthritis (AQ)|JRA SCTID:410793008|EFO:0002609|NCIT:C27179|DOID:676|Wikipedia:Juvenile_idiopathic_arthritis|DOID:6776 This class is scheduled for obsoletion owl:Class HP:0001370 biolink:NamedThing Rheumatoid arthritis Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. tmpaxzxjjyw_mondo_relaxed.owl Rheumatoid arthritis|RA SNOMEDCT_US:69896004|UMLS:C0003873|MSH:D001172 human_phenotype owl:Class UBERON:0001834 biolink:NamedThing upper lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:17137 biolink:NamedThing hydrogensulfite tmpaxzxjjyw_mondo_relaxed.owl hydrogen(trioxidosulfate)(1-)|hydrogentrioxosulfate(IV)|hydroxidodioxidosulfate(1-)|bisulphite|Bisulfite|Hydrogen sulfite|[SO2(OH)](-)|hydrosulfite anion|hydrogen sulfite(1-)|hydrogensulfite(1-)|monohydrogentrioxosulfate|bisulfite|HSO3-|hydrogentrioxosulfate(1-)|HSO3(-) owl:Class NCBITaxon:685953 biolink:NamedThing Philophthalmus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011913 biolink:NamedThing Alzheimer disease 3 Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques|Alzheimer's disease 3|Alzheimer disease familial 3|Alzheimer disease 3|AD|familial Alzheimer's disease, type 3|Alzheimer disease type 3|Alzheimer disease, familial, 3, with spastic paraparesis and apraxia|familial Alzheimer disease, type 3|Alzheimer's disease type 3|Alzheimer disease 3, early onset|Alzheimer disease, familial, 3|Alzheimer disease early onset type 3|early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1|Alzheimer disease 3, early-onset|AD3|PSEN1 early-onset autosomal dominant Alzheimer disease NCIT:C123412|OMIM:607822|DOID:0110042|GARD:0009468|MESH:C536598 owl:Class HGNC:9508 biolink:NamedThing PSEN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013982 biolink:NamedThing ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant|ECTD11A|ectodermal dysplasia, hypohidrotic, autosomal dominant Orphanet:1810|UMLS:C3541517|DOID:0111653|OMIM:614940|Orphanet:238468 owl:Class HGNC:14341 biolink:NamedThing EDARADD tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q24.3 biolink:NamedThing 8q24.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 145138636 138900000 hg38 owl:Class OBO:CHR_9606-chr8q24 biolink:NamedThing 8q24 (Human) tmpaxzxjjyw_mondo_relaxed.owl 145138636 116700000 hg38 owl:Class NBO:0001786 biolink:NamedThing regulation of behavior "Any process that modulates the frequency, rate or extent of behavior, the specific actions or reactions of an organism in response to external or internal stimuli." [GO:0050795] tmpaxzxjjyw_mondo_relaxed.owl owl:Class NBO:0000313 biolink:NamedThing behavior process "The action, reaction, or performance of an organism in response to external or internal stimuli." [GO:GO\:0007610] tmpaxzxjjyw_mondo_relaxed.owl behavior|behaviour owl:Class UBERON:0004161 biolink:NamedThing septum transversum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012220 biolink:NamedThing Griscelli syndrome type 3 A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes. tmpaxzxjjyw_mondo_relaxed.owl GS3|Griscelli syndrome, type 3|Griscelli-PruniC)ras syndrome type 3|Griscelli disease type 3|Griscelli syndrome type 3|Griscelli-Pruniéras syndrome type 3|hypomelanosis with no immunologic or neurologic manifestations|Griscelli-Pruni��ras syndrome type 3 DOID:0060834|UMLS:C1836573|MESH:C537303|ICD10:E70.3|GARD:0009715|Orphanet:381|OMIM:609227|Orphanet:79478 https://rarediseases.info.nih.gov/diseases/9715/griscelli-syndrome-type-3 owl:Class HGNC:29643 biolink:NamedThing MLPH tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006082 biolink:NamedThing fundus of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004997 biolink:NamedThing mucosa of pyloric antrum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009636 biolink:NamedThing mitochondrial DNA depletion syndrome 3 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial DNA depletion syndrome caused by mutation in DGUOK|mitochondrial DNA depletion syndrome type 3|DGUOK mitochondrial DNA depletion syndrome|MTDPS3|mitochondrial DNA depletion syndrome 3|mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency|mitochondrial DNA depletion syndrome 3 (hepatocerebral type) DOID:0080121|UMLS:C3151513|UMLS:C4310935|Orphanet:279934|OMIM:251880 owl:Class HGNC:2858 biolink:NamedThing DGUOK tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001724 biolink:NamedThing sphenoidal sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003056 biolink:NamedThing pre-chordal neural plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017877 biolink:NamedThing Brazilian hemorrhagic fever Brazilian hemorrhagic fever, caused by the Sabia virus (a newly discovered arenavirus), is a viral hemorrhagic fever, believed to originate from Sao Paulo, Brazil, with only 3 reported cases (2 of which were due to laboratory accidents) to date, characterized by fever, nausea vomiting myalgia tremors, and hemorragic manifestations such as conjunctival petechia and haematemesis, leading potentially to shock, coma and death. tmpaxzxjjyw_mondo_relaxed.owl Sabia hemorrhagic fever DOID:0050197|Orphanet:319239|SCTID:240524001|ICD10:A96.8|UMLS:C0343633 owl:Class NCBITaxon:2169992 biolink:NamedThing Brazilian mammarenavirus tmpaxzxjjyw_mondo_relaxed.owl Sabia arenavirus|Sabi mammarenavirus|Sabia mammarenavirus|Sabia virus GC_ID:1 NCBITaxon:45709 ncbi_taxonomy owl:Class UBERON:0000304 biolink:NamedThing tendon sheath tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015873 biolink:NamedThing Paget disease of the nipple Paget disease of the nipple describes a rare presentation of breast cancer, seen most frequently in women aged 50-60, manifesting with nipple drainage and itching, erythema, crusty and excoriated nipple, thickened plaques, and hyperpigmentation (less frequently). It is due to tumor cells invading the nipple-areola complex and represents 1-3% of all new breast cancer diagnoses. tmpaxzxjjyw_mondo_relaxed.owl Paget's disease of the nipple|Paget disease of the breast|Paget disease of the nipple|Paget's disease of nipple|PD|nipple Paget's disease|Paget's disease, mammary|mammary Paget disease UMLS:C1704323|GARD:0007303|MedDRA:10033367|SCTID:403946000|ICD10:C50.0|ONCOTREE:PD|NCIT:C3301|Orphanet:180275 owl:Class HGNC:1573 biolink:NamedThing KRIT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046851 biolink:NamedThing negative regulation of bone remodeling Any process that stops, prevents, or reduces the frequency, rate or extent of bone remodeling. tmpaxzxjjyw_mondo_relaxed.owl downregulation of bone remodeling|inhibition of bone remodeling|down regulation of bone remodeling|down-regulation of bone remodeling owl:Class GO:0046849 biolink:NamedThing bone remodeling The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis. tmpaxzxjjyw_mondo_relaxed.owl bone remodelling owl:Class MONDO:0014426 biolink:NamedThing nanophthalmos 4 Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene. tmpaxzxjjyw_mondo_relaxed.owl nanophthalmia caused by mutation in TMEM98|TMEM98 nanophthalmia|NNO4|Nanophthalmia 4|nanophthalmos type 4|nanophthalmos 4 UMLS:C4014848|OMIM:615972|Orphanet:35612 owl:Class HGNC:24529 biolink:NamedThing TMEM98 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004904 biolink:NamedThing neuron projection bundle connecting eye with brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005388 biolink:NamedThing photoreceptor array tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014236 biolink:NamedThing Ehlers-Danlos syndrome, musculocontractural type 2 Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene. tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, musculocontractural type 2|EDSMC2|Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE|DSE Ehlers-Danlos syndrome, musculocontractural type|Ehlers-Danlos syndrome, musculocontractural type, 2 OMIM:615539|Orphanet:2953|UMLS:C3809845 owl:Class UBERON:2002260 biolink:NamedThing premaxillary-maxillary joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011237 biolink:NamedThing hyperlipidemia, combined, 1 Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene. tmpaxzxjjyw_mondo_relaxed.owl hyperlipidemia, combined, type 1|hyperlipidemia, familial combined, 1|hyplip1|familial combined hyperlipidemia caused by mutation in USF1|hyperlipidemia, combined, 1|USF1 familial combined hyperlipidemia MESH:C566535|OMIM:602491|UMLS:C1865289 owl:Class HGNC:12593 biolink:NamedThing USF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012866 biolink:NamedThing hereditary spastic paraplegia 35 Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spastic paraplegia 35|leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia|SPG35|leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia|hereditary spastic paraplegia type 35|hereditary spastic paraplegia caused by mutation in FA2H|FA2H hereditary spastic paraplegia|autosomal recessive spastic paraplegia type 35|spastic paraplegia 35, autosomal recessive|hereditary spastic paraplegia 35 Orphanet:171629|DOID:0110786|MESH:C567311|ICD10:G11.4|OMIM:612319|SCTID:764688002|UMLS:C3496228 owl:Class HGNC:21197 biolink:NamedThing FA2H tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013818 biolink:NamedThing trichohepatoenteric syndrome 2 Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene. tmpaxzxjjyw_mondo_relaxed.owl SKIV2L tricho-hepato-enteric syndrome|tricho-hepato-enteric syndrome caused by mutation in SKIV2L|Trichohepatoenteric syndrome 2|TRICHOHEPATOENTERIC syndrome 2|THES2|Trichohepatoenteric syndrome type 2 OMIM:614602|Orphanet:84064|DOID:0111416|UMLS:C3281289 owl:Class MONDO:0014130 biolink:NamedThing Dowling-Degos disease 2 Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene. tmpaxzxjjyw_mondo_relaxed.owl Dowling-Degos disease caused by mutation in POFUT1|POFUT1 Dowling-Degos disease|DDD2|Dowling-Degos disease type 2|Dowling-Degos disease 2 UMLS:C3809147|Orphanet:79145|OMIM:615327 owl:Class HGNC:14988 biolink:NamedThing POFUT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012743 biolink:NamedThing Brugada syndrome 4 Any Brugada syndrome in which the cause of the disease is a mutation in the CACNB2 gene. tmpaxzxjjyw_mondo_relaxed.owl Brugada syndrome 4|Brugada syndrome caused by mutation in CACNB2|Brugada syndrome type 4|BRGDA4|CACNB2 Brugada syndrome DOID:0110221|OMIM:611876|GARD:0010362|MESH:C567508|ICD10:I49.8|Orphanet:130|UMLS:C2678477 https://rarediseases.info.nih.gov/diseases/10362/brugada-syndrome-4 owl:Class HGNC:1402 biolink:NamedThing CACNB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000638 biolink:NamedThing acidophil cell of pars distalis of adenohypophysis An acidophilic chromophil cell that of the anterior pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl acidophil of pars distalis of adenohypophysis|pituitary alpha cell|acidophil of pars anterior of adenohypophysis|acidophil cell of pars anterior of adenohypophysis FMA:83093 cell owl:Class UBERON:0006964 biolink:NamedThing pars distalis of adenohypophysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012326 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 42 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive type 42|autosomal recessive deafness 42|deafness, autosomal recessive 42|DFNB42|ILDR1 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in ILDR1|autosomal recessive nonsyndromic deafness type 42|autosomal recessive nonsyndromic deafness 42 OMIM:609646|DOID:0110500|ICD10:H90.3|UMLS:C1864818|MESH:C566460 owl:Class HGNC:28741 biolink:NamedThing ILDR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:03000036 biolink:NamedThing sedimentation in a water body A material accumulation process during which solid particles are pulled through a water body by gravitation or centrifugal force and which ends when they settle on a solid surface. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046850 biolink:NamedThing regulation of bone remodeling Any process that modulates the frequency, rate or extent of bone remodeling, the processes of bone formation and resorption that combine to maintain skeletal integrity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009700 biolink:NamedThing Carey-Fineman-Ziter syndrome Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay. tmpaxzxjjyw_mondo_relaxed.owl Moebius sequence, Robin complex, and hypotonia|Carey-Fineman-Ziter syndrome|myopathy, congenital nonprogressive with Moebius and Robin sequences|Carey Fineman Ziter syndrome|myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence|CFZ syndrome|myopathy-Moebius-Robin syndrome|congenital nonprogressive myopathy with Moebius and Robin sequences|CFZS ICD10:Q87.0|Orphanet:1358|GARD:0003889|OMIM:254940|DOID:0080194|MESH:C536102|ICD9:359.89|SCTID:429753001|UMLS:C1850746 https://rarediseases.info.nih.gov/diseases/3889/carey-fineman-ziter-syndrome owl:Class HGNC:33778 biolink:NamedThing MYMK tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019221 biolink:NamedThing cytokine-mediated signaling pathway A series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. tmpaxzxjjyw_mondo_relaxed.owl cytokine mediated signalling pathway|cytokine and chemokine mediated signaling pathway owl:Class GO:0071345 biolink:NamedThing cellular response to cytokine stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr1q2 biolink:NamedThing 1q2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 185800000 143200000 hg38 owl:Class MONDO:0014662 biolink:NamedThing congenital insensitivity to pain-hypohidrosis syndrome A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34. tmpaxzxjjyw_mondo_relaxed.owl CIP-hypohidrosis syndrome|hereditary sensory and autonomic neuropathy type 8|HSAN 8|HSAN8|neuropathy, hereditary sensory and autonomic, type VIII|hereditary sensory and autonomic neuropathy type VIII|neuropathy, hereditary sensory and autonomic, type 8 UMLS:C4225308|OMIM:616488|DOID:0070153|Orphanet:478664 owl:Class MONDO:0021175 biolink:NamedThing herpetic vulvovaginitis Infection of the vulva and the vagina caused by herpes simplex virus. tmpaxzxjjyw_mondo_relaxed.owl herpetic vulvovaginitis|Herpetic Vulvovaginitis|Herpetic vulvovaginitis SCTID:27420004|UMLS:C0019386|NCIT:C34697|ICD9:054.11 owl:Class MONDO:0007087 biolink:NamedThing alternating hemiplegia of childhood 1 Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A2 gene. tmpaxzxjjyw_mondo_relaxed.owl alternating hemiplegia of childhood caused by mutation in ATP1A2|ATP1A2 alternating hemiplegia of childhood|alternating hemiplegia of childhood 1|AHC1|alternating hemiplegia of childhood type 1 Orphanet:2131|OMIM:104290|UMLS:C3549447 owl:Class HGNC:800 biolink:NamedThing ATP1A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021127 biolink:NamedThing has a syndromic presentation An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0022404 biolink:NamedThing molting cycle process A multicellular organismal process involved in the periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042303 biolink:NamedThing molting cycle The periodic casting off and regeneration of an outer covering of cuticle, feathers, hair, horns, skin, etc. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1955 biolink:NamedThing CHRNA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0044147 biolink:NamedThing negative regulation of formation of structure involved in a symbiotic process Any process that stops, prevents, or reduces the frequency, rate or extent of the progression of an organism from an initial condition to a later condition, occurring in, on or near the exterior of its host organism. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of development of symbiont involved in interaction with host|negative regulation of development of symbiont during interaction with host owl:Class GO:0044111 biolink:NamedThing formation of structure involved in a symbiotic process The progression of an organism from an initial condition to a later condition, occurring when the organism is in a symbiotic interaction. tmpaxzxjjyw_mondo_relaxed.owl development of symbiont during interaction with host|development on or near surface of other organism during symbiotic interaction|development of symbiont involved in interaction with host|development during symbiotic interaction|development on or near surface of other organism involved in symbiotic interaction|development involved in symbiotic interaction owl:Class HGNC:4593 biolink:NamedThing GRM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016267 biolink:NamedThing undifferentiated carcinoma of the corpus uteri Undifferentiated carcinoma of the corpus uteri is a rare cancer of corpus uteri presenting as a large, polypoid, intraluminal mass with necrosis, composed of small to intermediate-size, relatively uniform, dyshesive cells displaying no differentiation. It usually presents with dysfunctional bleeding or vaginal discharge and, less often, abdominal pain. Association with Lynch syndrome was reported. tmpaxzxjjyw_mondo_relaxed.owl endometrial undifferentiated carcinoma|body of uterus undifferentiated carcinoma Orphanet:213721|ICD10:C50 owl:Class UBERON:0004220 biolink:NamedThing large intestine smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034714 biolink:NamedThing epiphyseal tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003659 biolink:NamedThing pediatric lymphoma A Hodgkin or non-Hodgkin lymphoma that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood lymphoma|lymphoma|pediatric lymphoma UMLS:C1332979|DOID:5823|NCIT:C5165 owl:Class CL:0009024 biolink:NamedThing mesothelial cell of small intestine A mesothelial cell that is part of the small intestine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004544 biolink:NamedThing epididymis epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001301 biolink:NamedThing epididymis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007507 biolink:NamedThing absence of fingerprints-congenital milia syndrome Absence of fingerprints-congenital milia syndrome is characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait. tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and Simian Crease|absence of dermatoglyphics-congenital milia syndrome|adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities|Basan syndrome|absence of dermatoglyphics congenital milia|Baird syndrome|absence of fingerprints congenital milia MESH:C537659|Orphanet:1658|ICD10:Q82.8|SCTID:239011004|GARD:0002336|OMIM:129200 https://rarediseases.info.nih.gov/diseases/2336/absence-of-fingerprints-congenital-milia owl:Class MONDO:0005687 biolink:NamedThing Caliciviridae infectious disease Virus diseases caused by caliciviridae. They include hepatitis E; vesicular exanthema of swine; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans. tmpaxzxjjyw_mondo_relaxed.owl infections, Caliciviridae|Calicivirus infections|infection, Caliciviridae|Calicivirus infection|infection, Calicivirus|infections, Calicivirus|Caliciviridae infection EFO:0007189|MESH:D017250 owl:Class NCBITaxon:11974 biolink:NamedThing Caliciviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0011362 biolink:NamedThing cranial blood vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001280 biolink:NamedThing liver parenchyma tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001264 biolink:NamedThing pancreas tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005317 biolink:NamedThing pulmonary artery endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4289 biolink:NamedThing GK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005630 biolink:NamedThing actinobacillosis A disease characterized by suppurative and granulomatous lesions in the respiratory tract, upper alimentary tract, skin, kidneys, joints, and other tissues. Actinobacillus lignieresii infects cattle and sheep while A. equuli infects horses and pigs. tmpaxzxjjyw_mondo_relaxed.owl EFO:0007127|SCTID:16140007|MESH:D000187|DOID:4974|UMLS:C0001247 owl:Class NCBITaxon:723 biolink:NamedThing Actinobacillus ureae tmpaxzxjjyw_mondo_relaxed.owl Pasterella haemolytica var. ureae|Pasteurella ureae GC_ID:11 ncbi_taxonomy owl:Class MONDO:0001246 biolink:NamedThing typhus A group of infectious diseases that include epidemic typhus, scrub typhus and murine typhus. tmpaxzxjjyw_mondo_relaxed.owl typhus exanthematique|louse-borne typhus|exanthematous typhus|endemic typhus fever|jail fever|famine fever|epidemic (louse-borne) typhus|typhus-group rickettsiosis|exanthematic typhus fever|prison fever|epidemic louse-borne typhus|louse-borne [epidemic] typhus|petechial fever|flea typhus|murine [endemic] typhus|epidemic louse-borne typhus fever due to Rickettsia prowazekii|Mexican typhus|shop typhus|classical typhus (fever)|murine typhus|flea-borne typhus|typhus-group rickettsiae disease|hospital fever|classical typhus|European typhus|rat flea typhus|flea-borne rickettsiosis|Urban typhus|typhus fever|ship fever|endemic flea-borne typhus|Moscow typhus|louse-borne rickettsiosis GARD:0007833|ICD10:A75.1|ICD9:081.9|Orphanet:102023|DOID:11256|ICD9:081.0|ICD10:A75.9|ICD9:080|UMLS:C0041472|NCIT:C84689|UMLS:C0041471|ICD10:A75.0|ICD10:A75.2|SCTID:240613006|ICD10:A75.3|ICD10:A75 owl:Class NCBITaxon:780 biolink:NamedThing Rickettsia tmpaxzxjjyw_mondo_relaxed.owl PMID:9103608|GC_ID:11|PMID:11491333|PMID:14662925|PMID:10939649 ncbi_taxonomy owl:Class UBERON:0002015 biolink:NamedThing kidney capsule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002113 biolink:NamedThing kidney tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015729 biolink:NamedThing mosaic trisomy 16 Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay. tmpaxzxjjyw_mondo_relaxed.owl Mosaic trisomy chromosome 16|Mosaic trisomy type 16|trisomy 16 mosaicism ICD10:Q92.1|Orphanet:1708|SCTID:764621006|MESH:C538041 owl:Class MONDO:0007417 biolink:NamedThing Darier disease Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies. tmpaxzxjjyw_mondo_relaxed.owl keratosis follicularis|Darier's disease|Darier disease, acral hemorrhagic type|dar|DAR|Darier-White disease|Darier White disease|Darier disease|Darier disease, segmental ICD10:Q82.8|DOID:2734|GARD:0006243|MedDRA:10023369|SCTID:48611009|NCIT:C84665|OMIM:124200|UMLS:C0022595|Orphanet:218|ICD9:757.39|ICD10:E50.8|Wikipedia:Darier%27s_disease owl:Class HGNC:812 biolink:NamedThing ATP2A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007223 biolink:NamedThing brachydactyly type E1 Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene. tmpaxzxjjyw_mondo_relaxed.owl HOXD13 brachydactyly type E|BDE1|brachydactyly, type E|brachydactyly type E caused by mutation in HOXD13|brachydactyly, type E1 MESH:C566194|OMIM:113300|Orphanet:93387|DOID:0110972 owl:Class HGNC:5136 biolink:NamedThing HOXD13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000389 biolink:NamedThing lens cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0033048 biolink:NamedThing negative regulation of mitotic sister chromatid segregation Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation during mitosis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000070 biolink:NamedThing mitotic sister chromatid segregation The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets. tmpaxzxjjyw_mondo_relaxed.owl mitotic sister-chromatid adhesion release|mitotic chromosome segregation owl:Class MONDO:0003690 biolink:NamedThing adult anaplastic ependymoma An anaplastic ependymoma occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl anaplastic ependymoma|adult malignant ependymoma|anaplastic ependymoma of adults|adult anaplastic ependymoma|malignant adult ependymoma DOID:5890|UMLS:C0280787|NCIT:C8269 owl:Class MONDO:0010250 biolink:NamedThing intellectual disability, X-linked 49 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked 15|mental retardation, X-linked 49|intellectual disability, X-linked 49|mental retardation, X-linked 15|MRX49 OMIM:300114 owl:Class HGNC:2022 biolink:NamedThing CLCN4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016923 biolink:NamedThing partial duplication of chromosome 3 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome 3|partial duplication of chromosome type 3 Orphanet:262201|SCTID:726341009 owl:Class OBO:CHR_9606-chr3 biolink:NamedThing chromosome 3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 3 198295559 0 hg38 owl:Class HGNC:9460 biolink:NamedThing PROZ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020501 biolink:NamedThing Crimean-Congo hemorrhagic fever Crimean-Congo hemorrhagic fever (CCHF) is a tick-borne zoonotic disease caused by CCHF virus and characterized by initial fever, headache, and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock, and multi-organ system failure. tmpaxzxjjyw_mondo_relaxed.owl CCHF|Crimean-Congo haemorrhagic fever|Congo-Crimean hemorrhagic fever|Crimean hemorrhagic fever [CHF Congo virus]|CHF Congo virus|Congo hemorrhagic fever|Crimean hemorrhagic fever|Congo fever DOID:12287|UMLS:C1304456|MESH:D006479|NCIT:C34682|ICD9:065.0|SCTID:402919000|UMLS:C0019099|Orphanet:99827|ICD10:A98.0 owl:Class HP:0000952 biolink:NamedThing Jaundice Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. tmpaxzxjjyw_mondo_relaxed.owl Jaundice|Yellow skin|Icterus|Yellowing of the skin MSH:D007565|SNOMEDCT_US:18165001|UMLS:C0022346 human_phenotype owl:Class CL:0002433 biolink:NamedThing CD69-positive, CD4-positive single-positive thymocyte A CD4-positive, CD8-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive. tmpaxzxjjyw_mondo_relaxed.owl intermediate CD4-single-positive|T.4SP69+.Th tmeehan 2010-10-21T02:46:02Z cell owl:Class GO:0042105 biolink:NamedThing alpha-beta T cell receptor complex A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. tmpaxzxjjyw_mondo_relaxed.owl alpha-beta T-cell receptor complex|alpha-beta TCR complex|alpha-beta T-lymphocyte receptor complex|alpha-beta T lymphocyte receptor complex owl:Class UBERON:0004370 biolink:NamedThing anterior limiting lamina of cornea tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002926 biolink:NamedThing gustatory epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001033 biolink:NamedThing gustatory system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021231 biolink:NamedThing retina neoplasm A neoplasm (disease) that involves the retina. tmpaxzxjjyw_mondo_relaxed.owl tumor of retina|neoplasm of the retina|retina tumor|tumor of the retina|neoplasm of retina|retina neoplasm (disease)|retinal tumor|retinal neoplasm NCIT:C4800|EFO:1000509 owl:Class UBERON:0000966 biolink:NamedThing retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013196 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 8 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene. tmpaxzxjjyw_mondo_relaxed.owl colorectal cancer, hereditary nonpolyposis, type 8|EPCAM hereditary nonpolyposis colon cancer|hereditary nonpolyposis colon cancer caused by mutation in EPCAM|HNPCC8 MESH:C567685|OMIM:613244|UMLS:C2750471|DOID:0070270|Orphanet:144 owl:Class HGNC:11529 biolink:NamedThing EPCAM tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003572 biolink:NamedThing chest connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001443 biolink:NamedThing chest tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002548 biolink:NamedThing fibroblast of cardiac tissue A fibroblast that is part of the heart. tmpaxzxjjyw_mondo_relaxed.owl cardiac fibroblast tmeehan 2011-02-28T04:57:44Z cell owl:Class UBERON:0005462 biolink:NamedThing lower back tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002417 biolink:NamedThing abdominal segment of trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005938 biolink:NamedThing renal tuberculosis Infection of the kidney due to mycobacteria. tmpaxzxjjyw_mondo_relaxed.owl kidney tuberculosis|tuberculosis of kidney ICD9:016.00|EFO:0007463|NCIT:C123020|SCTID:44323002|ICD9:016.0|UMLS:C0041328|DOID:9733|MESH:D014398 owl:Class HP:0011001 biolink:NamedThing Increased bone mineral density An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. tmpaxzxjjyw_mondo_relaxed.owl Osteosclerosis|Increased bone mineral density|Osteosclerosis of bones|Increased bone density SNOMEDCT_US:49347007|MSH:D010026|UMLS:C0029464 This term may be merged with Increased bone density in the future or made obsolete. sdoelken 2011-02-13T11:57:32Z HP:0005741|HP:0005711|HP:0002796|HP:0004350|HP:0010738 human_phenotype owl:Class UBERON:0001292 biolink:NamedThing distal convoluted tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001231 biolink:NamedThing nephron tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004376 biolink:NamedThing fin bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008897 biolink:NamedThing fin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014985 biolink:NamedThing Fanconi anemia complementation group V Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene. tmpaxzxjjyw_mondo_relaxed.owl FANCV|Fanconi Anemia, complementation group V|MAD2L2 Fanconi anemia|Fanconi Anemia, complementation Group 5|Fanconi anemia caused by mutation in MAD2L2|Fanconi Anemia, complementation group type V|Fanconi anemia complementation group type V|Fanconi anemia, complementation GROUP V DOID:0111080|OMIM:617243|UMLS:C4310652 owl:Class HGNC:6764 biolink:NamedThing MAD2L2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006208 biolink:NamedThing auditory hillocks tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000332 biolink:NamedThing sennetsu fever An ehlrichiosis caused by Neorickettsia sennetsu. tmpaxzxjjyw_mondo_relaxed.owl sennetsu fever|Neorickettsia sennetsu caused disease or disorder|Neorickettsia sennetsu disease or disorder|Human Ehrlichial infection, sennetsu type|Neorickettsia sennetsu infectious disease|sennetsu ehrlichiosis GARD:0000120|DOID:0050485|SCTID:21013006|ICD9:088.89|UMLS:C0520779|MESH:C537582 https://rarediseases.info.nih.gov/diseases/120/sennetsu-fever owl:Class NCBITaxon:951 biolink:NamedThing Neorickettsia sennetsu tmpaxzxjjyw_mondo_relaxed.owl Ehrlichia sennetsu|Rickettsia sennetsu GC_ID:11|PMID:11760958|PMID:1736961|PMID:11594628 ncbi_taxonomy owl:Class MONDO:0013790 biolink:NamedThing mirror movements 2 Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene. tmpaxzxjjyw_mondo_relaxed.owl MRMV2|RAD51 familial congenital mirror movements|mirror movements 2|familial congenital mirror movements caused by mutation in RAD51|mirror movements type 2 OMIM:614508|UMLS:C3281089|Orphanet:238722 owl:Class HGNC:9817 biolink:NamedThing RAD51 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031128 biolink:NamedThing developmental induction A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045168 biolink:NamedThing cell-cell signaling involved in cell fate commitment Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. tmpaxzxjjyw_mondo_relaxed.owl cell fate commitment, cell-cell signaling|cell fate commitment, cell-cell signalling|cell-cell signaling during in cell fate commitment|cell-cell signaling resulting in cell fate commitment|cell-cell signalling during cell fate commitment|cell-cell signalling resulting in cell fate commitment|cell-cell signalling involved in cell fate specification owl:Class MONDO:0003431 biolink:NamedThing lipoadenoma An adenoma in which the neoplastic epithelial cells are admixed with adipose tissue cells. tmpaxzxjjyw_mondo_relaxed.owl lipoadenoma|adenolipoma, benign|lipoadenoma (morphologic abnormality) NCIT:C4159|UMLS:C0334325|DOID:5398|ICDO:8324/0 owl:Class GO:0007165 biolink:NamedThing signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. tmpaxzxjjyw_mondo_relaxed.owl signaling pathway|signalling pathway|signalling cascade|signal transduction by trans-phosphorylation|signal transduction by conformational transition|signal transduction by cis-phosphorylation|signal transduction by protein phosphorylation|signaling cascade owl:Class GO:0051716 biolink:NamedThing cellular response to stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020178 biolink:NamedThing palpebral lentiginosis A lentigo that involves the skin of eyelid. tmpaxzxjjyw_mondo_relaxed.owl skin of eyelid lentigo Orphanet:98587 owl:Class UBERON:0001533 biolink:NamedThing subclavian artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004710 biolink:NamedThing pectoral appendage tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003027 biolink:NamedThing Mesomelia Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. tmpaxzxjjyw_mondo_relaxed.owl Symmetric mesomelic limb shortness|Mesomelic limb shortening|Mesomelic shortening of limbs|Disproportionately short middle portion of limb UMLS:C0549306 Shortening of the limbs where the predominant shortness is in the middle bones. human_phenotype owl:Class UBERON:0016885 biolink:NamedThing epithelium of terminal part of digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006866 biolink:NamedThing terminal part of digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014809 biolink:NamedThing DDX41-related hematologic malignancy predisposition syndrome Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene. tmpaxzxjjyw_mondo_relaxed.owl MPLPF|myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to|susceptibility to familial (multiple types) myeloproliferative/lymphoproliferative neoplasms|DDX41 hereditary neoplastic syndrome|hereditary neoplastic syndrome caused by mutation in DDX41|DDX41-related hematologic malignancy predisposition syndrome Orphanet:488647|OMIM:616871 owl:Class HGNC:18674 biolink:NamedThing DDX41 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5439 biolink:NamedThing IFNGR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009479 biolink:NamedThing ectoderm of buccopharyngeal membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006211 biolink:NamedThing buccopharyngeal membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:15379 biolink:NamedThing dioxygen tmpaxzxjjyw_mondo_relaxed.owl OXYGEN MOLECULE|E948|[OO]|molecular oxygen|Oxygen|E 948|dioxygen|O2|Disauerstoff|dioxygene|E-948 owl:Class UBERON:0001168 biolink:NamedThing wall of small intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017323 biolink:NamedThing hypocalcemic rickets Hypocalcemic rickets is a group of genetic diseases characterized by hypocalcemia and rickets. It comprises hypocalcemic vitamin D dependent rickets (VDDR-I) and hypocalcemic vitamin D resistant rickets (HVDRR). tmpaxzxjjyw_mondo_relaxed.owl Calciopenic rickets|calcium deficiency rickets Orphanet:289103|SCTID:722947004|NCIT:C131421|UMLS:C4329608|UMLS:C4302195 owl:Class HP:0002901 biolink:NamedThing Hypocalcemia An abnormally decreased calcium concentration in the blood. tmpaxzxjjyw_mondo_relaxed.owl Low blood calcium levels|Hypocalcaemia UMLS:C0020598|SNOMEDCT_US:5291005|MSH:D006996 human_phenotype owl:Class UBERON:0004465 biolink:NamedThing musculature of neck tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019207 biolink:NamedThing chorioretinal region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007751 biolink:NamedThing hypercholesterolemia, autosomal dominant, type B tmpaxzxjjyw_mondo_relaxed.owl hypercholesterolemia, autosomal dominant, type B|apolipoprotein B-100, familial ligand-defective|hypercholesterolemia, familial, due to ligand-defective apolipoprotein B|apolipoprotein B-100, familial defective OMIM:144010|SCTID:238081000 owl:Class HGNC:603 biolink:NamedThing APOB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024339 biolink:NamedThing lymph node neoplasm A neoplasm involving a lymph node. tmpaxzxjjyw_mondo_relaxed.owl lymph node tumor|neoplasm of lymph node|tumor of lymph node|lymph node neoplasm (disease)|lymph node neoplasm GARD:0006932|NCIT:C35497 owl:Class MONDO:0043707 biolink:NamedThing mediastinal disorder A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma. tmpaxzxjjyw_mondo_relaxed.owl mediastinal disease|disease, mediastinal|diseases, mediastinal|mediastinal disorder|disease of mediastinum|disorder of mediastinum|mediastinum disease|mediastinum disease or disorder|disease or disorder of mediastinum MESH:D008477|SCTID:49483002|UMLS:C0025061|NCIT:C26826 owl:Class UBERON:0001801 biolink:NamedThing anterior segment of eyeball tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0052856 biolink:NamedThing NADHX epimerase activity Catalysis of the reaction: (R)-NADHX = (S)-NADHX. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:27177 biolink:NamedThing L-tyrosine derivative A proteinogenic amino acid derivative resulting from reaction of L-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of L-tyrosine by a heteroatom. tmpaxzxjjyw_mondo_relaxed.owl L-tyrosine derivatives owl:Class MONDO:0014155 biolink:NamedThing atrial fibrillation, familial, 13 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN1B gene. tmpaxzxjjyw_mondo_relaxed.owl ATFB13|SCN1B familial atrial fibrillation|atrial fibrillation, familial, type 13|familial atrial fibrillation caused by mutation in SCN1B|atrial fibrillation, familial, 13 Orphanet:334|OMIM:615377|UMLS:C3809311 owl:Class HGNC:10586 biolink:NamedThing SCN1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011735 biolink:NamedThing hyper-IgM syndrome type 3 A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells. tmpaxzxjjyw_mondo_relaxed.owl hyper IgM syndrome 3|immunodeficiency with hyper-IgM type 3|immunodeficiency with hyper IgM type 3|hyper-IgM syndrome caused by mutation in CD40|HIGM3|CD40 hyper-IgM syndrome|type 3 hyper-IgM immunodeficiency|immunodeficiency with hyper-IgM, type 3|hyper-IgM syndrome due to CD40 deficiency|CD40 deficiency|hyper-IgM syndrome 3 Orphanet:183663|DOID:0060023|Orphanet:101090|ICD10:D80.5|OMIM:606843|GARD:0010579 https://rarediseases.info.nih.gov/diseases/10579/immunodeficiency-with-hyper-igm-type-3 owl:Class MONDO:0003869 biolink:NamedThing childhood brain stem glioma An abnormal growth of the cells that comprise the tissues of the brainstem. While the tumor may be histologically benign, it can produce great morbidity due to its location. It presents most commonly in the first two decades of life. tmpaxzxjjyw_mondo_relaxed.owl pediatric brainstem glioma|childhood brain stem glioma|brain stem glioma|brain stem glioma of childhood|pediatric brain stem glioma|childhood glioma of the brainstem|pediatric glioma of brain stem|pediatric glioma of the brain stem|childhood brainstem glioma|pediatric glioma of the brainstem|childhood glioma of brain stem|childhood glioma of the brain stem|pediatric glioma of brainstem|childhood glioma of brainstem NCIT:C9042|DOID:6383|GARD:0009306|UMLS:C0278600 https://rarediseases.info.nih.gov/diseases/9306/childhood-brain-stem-glioma owl:Class MONDO:0013287 biolink:NamedThing agammaglobulinemia 2, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the IGLL1 gene. tmpaxzxjjyw_mondo_relaxed.owl lambda 5 deficiency|autosomal agammaglobulinemia caused by mutation in IGLL1|IGLL1 autosomal agammaglobulinemia|agammaglobulinemia, autosomal recessive, due to IGLL1 defect|agammaglobulinemia 2, autosomal recessive|AGM2 Orphanet:33110|OMIM:613500|DOID:0060024|UMLS:C3150750|Orphanet:229717 owl:Class HGNC:5870 biolink:NamedThing IGLL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013633 biolink:NamedThing encephalopathy, acute, infection-induced, susceptibility to, 4 Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene. tmpaxzxjjyw_mondo_relaxed.owl CPT2 encephalopathy, acute, infection-induced|encephalopathy, acute, infection-induced, susceptibility to, 4|encephalopathy, acute, infection-induced, susceptibility to, type 4|IIAE4|encephalopathy, acute, infection-induced caused by mutation in CPT2 Orphanet:263524|OMIM:614212 owl:Class HGNC:2330 biolink:NamedThing CPT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002541 biolink:NamedThing chorionic membrane mesenchymal stem cell A mesenchymal stem cell of the chorionic membrane. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-02-28T03:04:35Z cell owl:Class MONDO:0014855 biolink:NamedThing intellectual disability, autosomal dominant 42 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GNB1 gene. tmpaxzxjjyw_mondo_relaxed.owl MRD42|autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1|intellectual disability, autosomal dominant type 42|mental retardation, autosomal dominant type 42|mental retardation, autosomal dominant 42|autosomal dominant intellectual disability 42|GNB1 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in Gnb1|autosomal dominant mental retardation 42|autosomal dominant non-syndromic intellectual disability 42|Gnb1 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 42 DOID:0070072|UMLS:C4310774|OMIM:616973 Editor note: check status as syndromic owl:Class HGNC:4396 biolink:NamedThing GNB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001996 biolink:NamedThing elastic cartilage tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071953 biolink:NamedThing elastic fiber An supramolecular fiber that consists of an insoluble core of polymerized tropoelastin monomers and a surrounding mantle of microfibrils. Elastic fibers provide elasticity and recoiling to tissues and organs, and maintain structural integrity against mechanical strain. tmpaxzxjjyw_mondo_relaxed.owl elastin fiber|elastic fibre owl:Class HsapDv:0000100 biolink:NamedThing 6-year-old human stage Child stage that refers to a child who is over 6 and under 7 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000099 biolink:NamedThing 5-year-old human stage Child stage that refers to a child who is over 5 and under 6 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016266 biolink:NamedThing squamous cell carcinoma of the corpus uteri A squamous cell carcinoma that involves the body of uterus. tmpaxzxjjyw_mondo_relaxed.owl body of uterus squamous cell carcinoma|endometrial squamous cell carcinoma Orphanet:213716|ICD10:C50 owl:Class UBERON:0009853 biolink:NamedThing body of uterus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005996 biolink:NamedThing trichuriasis An infection that is caused by the nematode Trichuris trichiura, a soil-transmitted helminth, which is transmitted via food and/or water contaminated with the eggs of the worm. Symptoms are usually mild and include abdominal pain, diarrhea, fatigue, and possibly anemia secondary to blood loss in diarrhea. tmpaxzxjjyw_mondo_relaxed.owl infection by Trichuris trichura|Trichuris trichiura caused disease or disorder|trichuriasis infection|Trichuris trichiura infection|whipworm disease|Trichuris trichiura infectious disease|whipworm infection|Trichuris trichiura disease or disorder|trichocephaliasis NCIT:C128399|SCTID:3752003|ICD10:B79|MESH:D014257|UMLS:C0040954|GARD:0010720|DOID:1252|ICD9:127.3|EFO:0007524 https://rarediseases.info.nih.gov/diseases/10720/trichuriasis owl:Class MONDO:0001357 biolink:NamedThing hypochromic anemia Anemia caused by the reduction of hemoglobin in relation to the red cell volume. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. tmpaxzxjjyw_mondo_relaxed.owl anemia hypochromic|hypochromic anemia (disease)|hypochromic anemia hypochromic anemia (disease) UMLS:C0002884|DOID:11759|SCTID:44452003|NCIT:C34380|ICD10:D50|HP:0001931 owl:Class CL:1000456 biolink:NamedThing mesothelial cell of parietal peritoneum A mesothelial cell that is part of the parietal peritoneum. tmpaxzxjjyw_mondo_relaxed.owl FMA:72142 cell owl:Class UBERON:0001366 biolink:NamedThing parietal peritoneum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001828 biolink:NamedThing gingiva tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010843 biolink:NamedThing dyslexia, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl dyslexia, susceptibility to, 2|DYX2|reading disability, specific, 2 OMIM:600202 owl:Class MONDO:0021398 biolink:NamedThing polyp of rectum A polyp that involves the rectum. tmpaxzxjjyw_mondo_relaxed.owl polyp of the rectum|rectum polyp|rectal polyp NCIT:C3351|UMLS:C0034887|SCTID:39772007 owl:Class HP:0004348 biolink:NamedThing Abnormality of bone mineral density This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of bone mineralisation and ossification UMLS:C4021657 peter 2008-03-11T08:10:00Z human_phenotype owl:Class UBERON:0000929 biolink:NamedThing pharyngeal branch of vagus nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003878 biolink:NamedThing malignant choroid melanoma A uveal melanoma that arises from the choroid. It is the most common primary malignant intraocular tumor. It usually affects Caucasians of northern European descent. It usually remains asymptomatic for a long period. When signs and symptoms occur, they include blurred vision, visual field loss, floaters, and ocular pain. Tumor size is the most important factor that relates to prognosis. tmpaxzxjjyw_mondo_relaxed.owl melanoma (disease) of optic choroid|optic choroid melanoma|malignant melanoma of choroid|choroid melanoma|melanoma of the choroid|optic choroid melanoma (disease)|choroid malignant melanoma|melanoma of choroid|choroidal melanoma|malignant melanoma of the choroid SCTID:255021005|UMLS:C0346388|DOID:6438|NCIT:C4561 MONDO:0021436 owl:Class UBERON:0001776 biolink:NamedThing optic choroid tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013697 biolink:NamedThing exocrine pancreas epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002244 biolink:NamedThing hematopoietic progenitor cell differentiation The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. tmpaxzxjjyw_mondo_relaxed.owl hemopoietic progenitor cell differentiation|haematopoietic progenitor cell differentiation|haemopoietic progenitor cell differentiation owl:Class GO:0030097 biolink:NamedThing hemopoiesis The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. tmpaxzxjjyw_mondo_relaxed.owl haemopoiesis|blood cell biosynthesis|hematopoiesis|blood cell formation owl:Class CHEBI:60466 biolink:NamedThing peptide zwitterion Zwitterionic form of any peptide where, in general, the amino terminus is positively charged and the carboxy terminus is negatively charged. tmpaxzxjjyw_mondo_relaxed.owl peptide zwitterions owl:Class CHEBI:16670 biolink:NamedThing peptide Amide derived from two or more amino carboxylic acid molecules (the same or different) by formation of a covalent bond from the carbonyl carbon of one to the nitrogen atom of another with formal loss of water. The term is usually applied to structures formed from alpha-amino acids, but it includes those derived from any amino carboxylic acid. X = OH, OR, NH2, NHR, etc. tmpaxzxjjyw_mondo_relaxed.owl peptido|peptides|peptidos|Peptid|Peptide owl:Class UBERON:0000165 biolink:NamedThing mouth tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003314 biolink:NamedThing eye mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000019 biolink:NamedThing camera-type eye tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16001 biolink:NamedThing SUGCT tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8q2 biolink:NamedThing 8q2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 145138636 72000000 hg38 owl:Class UBERON:0002040 biolink:NamedThing bronchial artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001892 biolink:NamedThing rhombomere tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q31 biolink:NamedThing 2q31 (Human) tmpaxzxjjyw_mondo_relaxed.owl 182100000 168900000 hg38 owl:Class MONDO:0011351 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 21 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 21|autosomal recessive nonsyndromic deafness caused by mutation in tecta|tecta autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in TECTA|deafness, autosomal recessive 21|deafness, autosomal recessive type 21|TECTA autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 21|autosomal recessive deafness 21|DFNB21 OMIM:603629|Orphanet:90636|ICD10:H90.3|UMLS:C1863655|DOID:0110479|MESH:C566353 owl:Class HGNC:11720 biolink:NamedThing TECTA tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003084 biolink:NamedThing heart primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004535 biolink:NamedThing cardiovascular system tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001366 biolink:NamedThing aerosolised particle formation process A process during which particles suspended in a gaseous medium are formed. tmpaxzxjjyw_mondo_relaxed.owl new particle formation process owl:Class MONDO:0019493 biolink:NamedThing primary adult heart tumor Adult heart tumor refers to neoplasms of the heart that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma (see these terms). tmpaxzxjjyw_mondo_relaxed.owl adult heart tumor|adult cardiac tumor ICD10:C38.0|UMLS:C4275152|Orphanet:874|SCTID:715403006|UMLS:CN206280|ICD10:D15.1 owl:Class GO:0010623 biolink:NamedThing programmed cell death involved in cell development The activation of endogenous cellular processes that result in the death of a cell as part of its development. tmpaxzxjjyw_mondo_relaxed.owl programmed cell death involved in development|developmental programmed cell death owl:Class UBERON:0004756 biolink:NamedThing dermal skeletal element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001267 biolink:NamedThing femoral nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004482 biolink:NamedThing musculature of lower limb tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006123 biolink:NamedThing cardiac rhabdomyoma A well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus. Depending on tumor location and size, cardiac, respiratory, and hemodynamic parameters may be affected. There is an association between cardiac rhabdomyoma and tuberous sclerosis. tmpaxzxjjyw_mondo_relaxed.owl cardiac rhabdomyoma (disease)|heart rhabdomyoma|rhabdomyoma of heart|cardiac rhabdomyoma|rhabdomyoma of the heart cardiac rhabdomyoma (disease) EFO:1000150|UMLS:C1332852|HP:0009729|NCIT:C6739 owl:Class UBERON:0000383 biolink:NamedThing musculature of body tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0003012 biolink:NamedThing muscle system process A organ system process carried out at the level of a muscle. Muscle tissue is composed of contractile cells or fibers. tmpaxzxjjyw_mondo_relaxed.owl muscle physiological process owl:Class MONDO:0002227 biolink:NamedThing ovarian lymphoma A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected. tmpaxzxjjyw_mondo_relaxed.owl ovarian lymphoma|ovary lymphoma|primary ovarian lymphoma|lymphoma of ovary UMLS:C1518720|NCIT:C40021|DOID:2150 owl:Class MONDO:0019186 biolink:NamedThing Q fever A bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness. tmpaxzxjjyw_mondo_relaxed.owl Coxiella burnetii infectious disease|infection due to Coxiella burnetii|Coxiella burnetii fever|Coxiellosis|Coxiella burnetii caused disease or disorder|Q fever pneumonia|query fever|nine Mile fever|quadrilateral fever|Coxiella burnetii disease or disorder MedDRA:10037688|DOID:11100|Orphanet:781|UMLS:C0034362|EFO:0005224|SCTID:186788009|ICD10:A78|NCIT:C34970|ICD9:083.0|MedDRA:10037731|MESH:D011778|GARD:0007515 https://rarediseases.info.nih.gov/diseases/7515/q-fever owl:Class MONDO:0009151 biolink:NamedThing cleft lip/palate-ectodermal dysplasia syndrome An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl Zlotogora syndrome|cleft lip with or without cleft palate, nonsyndromic, 7|ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly|ectodermal dysplasia type 4|orofacial cleft 7|ED4|Bustos Simosa pinto Cisternas syndrome|autosomal recessive ectodermal dysplasia|ectodermal dysplasia, cleft lip and palate, intellectual disability, and syndactyly|Zlotogora-Zilberman-Tenenbaum syndrome|ectodermal dysplasia, margarita Island type|cleft lip-palate-ectodermal dysplasia syndrome|cleft lip/palate-syndactyly-pili torti|cleft lip/palate-ectodermal dysplasia syndrome|syndactyly-ectodermal dysplasia-cleft/lip palate|ectodermal dysplasia, type 4|CLPED1|CLEPD|Zlotogora-Ogur syndrome|cleft lip/palate-syndactyly-pili torti syndrome|margarita type of ectodermal dysplasia|ectodermal dysplasia margarita island type NCIT:C122656|OMIM:225060|Orphanet:3253|DOID:0060773|GARD:0001045|UMLS:CN229116|DOID:0080400|Orphanet:1991|Orphanet:320317|SCTID:716248001|GARD:0000375 owl:Class HGNC:9706 biolink:NamedThing NECTIN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034994 biolink:NamedThing hindbrain cortical intermediate zone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009452 biolink:NamedThing Vici syndrome A very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency. tmpaxzxjjyw_mondo_relaxed.owl absent corpus callosum-cataract-immunodeficiency syndrome|Dionisi-Vici-Sabetta-Gambarara syndrome|immunodeficiency with cleft Lip/palate, cataract, hypopigmentation, and absent corpus callosum|Dionisi Vici Sabetta Gambarara syndrome|absent corpus callosum cataract immunodeficiency|corpus callosum agenesis-cataract-immunodeficiency syndrome|Vici syndrome|VICIS|immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum UMLS:C1855772|OMIM:242840|SCTID:719824001|ICD10:Q87.8|MESH:C535566|GARD:0000448|NCIT:C138174|Orphanet:1493|DOID:0060356 https://rarediseases.info.nih.gov/diseases/448/vici-syndrome owl:Class HGNC:29331 biolink:NamedThing EPG5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005622 biolink:NamedThing right dorsal aorta tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:32505 biolink:NamedThing phenylalaninium An alpha-amino-acid cation that is the conjugate acid of phenylalanine, arising from protonation of the amino group. tmpaxzxjjyw_mondo_relaxed.owl phenylalaninium|1-carboxy-2-phenylethanaminium|phenylalanine cation owl:Class UBERON:0012278 biolink:NamedThing gland of nasal mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001826 biolink:NamedThing nasal cavity mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003029 biolink:NamedThing skin angiosarcoma A malignant vascular neoplasm arising from the skin. tmpaxzxjjyw_mondo_relaxed.owl skin angiosarcoma|angiosarcoma of skin|skin hemangiosarcoma|angiosarcoma (disease) of zone of skin|angiosarcoma of the skin|zone of skin angiosarcoma (disease)|hemangiosarcoma of skin|hemangiosarcoma of the skin SCTID:254794007|NCIT:C4489|UMLS:C0346081|DOID:4517 owl:Class UBERON:0010379 biolink:NamedThing superior tarsal muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011732 biolink:NamedThing familial digital arthropathy-brachydactyly Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl digital arthropathy-brachydactyly, familial|FDAB ICD10:M06.8|OMIM:606835|MESH:C564656|Orphanet:85169|UMLS:C1847406 owl:Class MONDO:0005307 biolink:NamedThing contracture Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint. tmpaxzxjjyw_mondo_relaxed.owl muscle contracture EFO:0003899|MESH:D003286 owl:Class MONDO:0009830 biolink:NamedThing parkinsonian-pyramidal syndrome A Parkinson's disease that has material basis in mutation in the FBXO7 gene on chromosome 22q12.3. tmpaxzxjjyw_mondo_relaxed.owl Pallidopyramidal syndrome|parkinsonian-pyramidal syndrome|pallidopyramidal syndrome|autosomal recessive early-onset Parkinson disease 15|Parkinson disease 15, autosomal recessive early-onset|autosomal recessive early-onset Parkinson's disease 15|autosomal recessive early-onset Parkinson disease type 15|PARK15|pallido-pyramidal disease|pallido-pyramidal syndrome Orphanet:171695|MESH:C538104|UMLS:C1850100|GARD:0009175|DOID:0060372|ICD10:G20|OMIM:260300|OMIM:168100|OMIM:168601 owl:Class MONDO:0017279 biolink:NamedThing young-onset Parkinson disease A form of Parkinson disease (PD) characterized by an age of onset between 21-45 years, rigidity, painful cramps followed by tremor, bradykinesia, dystonia, gait complaints and falls, and other non-motor symptoms. A slow disease progression and a more pronounced response to dopaminergic therapy are also observed in most YOPD forms. tmpaxzxjjyw_mondo_relaxed.owl YOPD|early-onset Parkinson's disease|early-onset Parkinson disease Orphanet:391411|OMIM:615528|OMIM:606852|OMIM:300557|OMIM:602404|SCTID:715345007|OMIM:606324|OMIM:616840|OMIM:610297|OMIM:613643|ICD10:G20|Orphanet:2828|OMIM:605909|DOID:0060894|OMIM:600116 owl:Class MONDO:0003917 biolink:NamedThing heart lymphoma An extranodal lymphoma that arises from the heart and/or the pericardium. The majority of the cases are diffuse large B-cell lymphomas. Patients may present with chest pain, heart failure, pericardial effusion, arrhythmia, or syncope. tmpaxzxjjyw_mondo_relaxed.owl heart lymphoma|Cardiac lymphoma|Primary heart lymphoma|lymphoma of the heart|PCL|lymphoma of heart|primary Cardiac lymphoma UMLS:C1332850|NCIT:C5368|DOID:6547 owl:Class NCBITaxon:10912 biolink:NamedThing Rotavirus tmpaxzxjjyw_mondo_relaxed.owl Rotaviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000316 biolink:NamedThing opportunistic bacterial infectious disease tmpaxzxjjyw_mondo_relaxed.owl DOID:0050340 owl:Class CHEBI:140503 biolink:NamedThing kaolin An aluminosilicate soft white mineral named after the hill in China (Kao-ling) from which it was mined for centuries. In its natural state kaolin is a white, soft powder consisting principally of the mineral kaolinite, and varying amounts of other minerals such as muscovite, quartz, feldspar, and anatase. It is used in the manufacture of china and porcelain and also widely used in the production of paper, rubber, paint, drying agents, and many other products. tmpaxzxjjyw_mondo_relaxed.owl white bole|argilla|Bolus alba|porcelain clay|China clay owl:Class CHEBI:55323 biolink:NamedThing antidiarrhoeal drug Any drug found useful in the symptomatic treatment of diarrhoea. tmpaxzxjjyw_mondo_relaxed.owl antiperistaltic|antidiarrheal|antiperistaltic drugs|antidiarrhoeal agents|antidiarrhoeal agent|antiperistaltic drug|antidiarrheal drugs|antidiarrheals|antiperistaltic agents|antidiarrhoeal|antidiarrhoeals|antiperistaltic agent|antidiarrheal agent|antidiarrhoeal drugs|antidiarrheal drug|antidiarrheal agents|antiperistaltics owl:Class MONDO:0014865 biolink:NamedThing autosomal recessive severe congenital neutropenia due to CSF3R deficiency tmpaxzxjjyw_mondo_relaxed.owl SCN7|neutropenia, severe congenital, 7, autosomal recessive|neutropenia, Severe congenital, 7, autosomal recessive UMLS:C4310764|ICD10:D70|Orphanet:420702|OMIM:617014 owl:Class UBERON:0001911 biolink:NamedThing mammary gland A specialized accessory gland of the skin of mammals that secretes milk. The gland is typically only developed in females, and regresses in males. tmpaxzxjjyw_mondo_relaxed.owl glandula mammaria|lactiferous gland owl:Class OBO:CHR_9606-chr14q biolink:NamedThing 14q (Human) tmpaxzxjjyw_mondo_relaxed.owl 107043718 17200000 hg38 owl:Class HGNC:22082 biolink:NamedThing VMA21 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005297 biolink:NamedThing testis sex cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010141 biolink:NamedThing primitive sex cord of indifferent gonad tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:17015 biolink:NamedThing riboflavin D-Ribitol in which the hydroxy group at position 5 is substituted by a 7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl moiety. It is a nutritional factor found in milk, eggs, malted barley, liver, kidney, heart, and leafy vegetables, but the richest natural source is yeast. The free form occurs only in the retina of the eye, in whey, and in urine; its principal forms in tissues and cells are as flavin mononucleotide and flavin-adenine dinucleotide. tmpaxzxjjyw_mondo_relaxed.owl Flaxain|7,8-dimethyl-10-ribitylisoalloxazine|riboflavin (vit B2)|riboflavina|lactoflavin|Aqua-Flave|7,8-dimethyl-10-[(2S,3S,4R)-2,3,4,5-tetrahydroxypentyl]benzo[g]pteridine-2,4(3H,10H)-dione|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol|vitamin G|E101|Bisulase|Fiboflavin|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)-D-ribitol|Beflavine|riboflavine|Dermadram|vitasan B2|riboflavin|Beflavin|Flavin Bb|vitamin B2|6,7-dimethyl-9-D-ribitylisoalloxazine|riboflavinum|Vitamin B2|5-deoxy-5-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)-D-ribitol|7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine|Flavaxin|7,8-dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)benzo[g]pteridine-2,4(3H,10H)-dione|Hyflavin owl:Class MONDO:0010043 biolink:NamedThing hereditary spastic paraplegia 17 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the BSCL2 gene. tmpaxzxjjyw_mondo_relaxed.owl Silver syndrome|autosomal dominant spastic paraplegia type 17|BSCL2 hereditary spastic paraplegia|dHMN5B|hereditary spastic paraplegia caused by mutation in BSCL2|spastic paraplegia 17, autosomal dominant|autosomal dominant spastic paraplegia 17|distal hereditary motor neuropathy type 5B|Silver spastic paraplegia syndrome|SPG17|spastic paraplegia 17|spastic paraplegia-amyotrophy of hands and feet|spastic paraplegia with amyotrophy of hands and feet|hereditary spastic paraplegia type 17 OMIM:270685|DOID:0110770|Orphanet:100998|UMLS:C2931276|MESH:C536644|ICD10:G11.4|UMLS:CN074197|GARD:0004219 owl:Class HGNC:15832 biolink:NamedThing BSCL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004780 biolink:NamedThing gastrointestinal system lamina propria tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004550 biolink:NamedThing gastroesophageal sphincter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001162 biolink:NamedThing cardia of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004889 biolink:NamedThing lobar bronchus vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002183 biolink:NamedThing lobar bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009670 biolink:NamedThing rectal lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001167 biolink:NamedThing wall of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008882 biolink:NamedThing spinal cord commissure tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001175 biolink:NamedThing common hepatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:8000013 biolink:NamedThing portal hypertension, noncirrhotic, 1 tmpaxzxjjyw_mondo_relaxed.owl portal hypertension, noncirrhotic|portal hypertension, noncirrhotic; NCPH|NCPH UMLS:C4310735|OMIM:617068 owl:Class MONDO:0008648 biolink:NamedThing ventricular tachycardia, familial An instance of ventricular tachycardia that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl ventricular tachycardia, familial|hereditary ventricular tachycardia|ventricular tachycardia, familial polymorphic|familial ventricular tachycardia OMIM:192605|GARD:0002263|SCTID:233906007 owl:Class MONDO:0014304 biolink:NamedThing hereditary spastic paraplegia 61 A rare, complex form of hereditary spastic paraplegia characterized by an onset in infancy of spastic paraplegia (presenting with the inability to walk unsupported and a scissors gait) associated with a motor and sensory polyneuropathy with loss of terminal digits and acropathy. SPG61 is due to a mutation in the ARL6IP1 gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia 61, autosomal recessive|hereditary spastic paraplegia type 61|autosomal recessive spastic paraplegia type 61|ARL6IP1 autosomal recessive complex spastic paraplegia|autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1|SPG61|hereditary spastic paraplegia 61|autosomal recessive spastic paraplegia 61 UMLS:C3810294|OMIM:615685|UMLS:C4511962|DOID:0110812|ICD10:G11.4|SCTID:726611001|Orphanet:401780 owl:Class GO:1903941 biolink:NamedThing negative regulation of respiratory gaseous exchange Any process that stops, prevents or reduces the frequency, rate or extent of respiratory gaseous exchange. tmpaxzxjjyw_mondo_relaxed.owl downregulation of respiratory gaseous exchange|down regulation of respiratory gaseous exchange|inhibition of respiratory gaseous exchange|down-regulation of respiratory gaseous exchange owl:Class MONDO:0000970 biolink:NamedThing breast lipoma A benign, mesenchymal neoplasm that arises from the breast. It is surrounded by a thin capsule and composed of mature adipose tissue cells. Atypia is absent. tmpaxzxjjyw_mondo_relaxed.owl lipoma of the breast|breast lipoma|lipoma of breast UMLS:C0349565|NCIT:C4647|ICD9:214.1|DOID:10199|SCTID:276891009 owl:Class MONDO:0014673 biolink:NamedThing cataract 44 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene. tmpaxzxjjyw_mondo_relaxed.owl total early-onset cataract|CTRCT44|cataract 44|LSS early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in LSS|cataract type 44 Orphanet:98994|DOID:0110267|Orphanet:91492|UMLS:C4225300|ICD10:Q12.0|OMIM:616509 owl:Class HGNC:6708 biolink:NamedThing LSS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016092 biolink:NamedThing serous or mucinous cystadenoma of childhood Serous or mucinous cystadenoma of childhood is a benign epithelial ovarian tumor characterized by a usually unilateral, cystic, unilocular or multilocular lesion with a thin wall or septa and no intracystic solid portion on imaging. It often presents with abdominal pain or an asymptomatic abdominal mass and can be associated with ovarian torsion or malignant transformation. tmpaxzxjjyw_mondo_relaxed.owl mucinous cystadenoma of ovary in childhood|serous cystadenoma of ovary in childhood Orphanet:206470|ICD10:D27 owl:Class HGNC:6610 biolink:NamedThing LIM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004088 biolink:NamedThing orbital region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013637 biolink:NamedThing prostate gland lateral lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014819 biolink:NamedThing autosomal dominant Robinow syndrome 3 Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene. tmpaxzxjjyw_mondo_relaxed.owl Robinow syndrome, autosomal dominant type 3|autosomal dominant Robinow syndrome type 3|Robinow syndrome caused by mutation in DVL3|DRS3|DVL3 Robinow syndrome|Robinow syndrome, autosomal dominant 3 UMLS:C4225164|OMIM:616894|ICD10:Q87.1|DOID:0060767|Orphanet:3107|Orphanet:97360 owl:Class HGNC:3087 biolink:NamedThing DVL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000216 biolink:NamedThing Sertoli cell A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier. tmpaxzxjjyw_mondo_relaxed.owl BTO:0001238|CALOHA:TS-0922|FMA:72298|VHOG:0001348 cell owl:Class UBERON:0001492 biolink:NamedThing radial nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008296 biolink:NamedThing familial porphyria cutanea tarda An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl porphyria, hepatoerythropoietic|Urod deficiency|porphyria cutanea tarda|PCT, 'familial' type|porphyria cutanea tarda, type 2|PCT|uroporphyrinogen decarboxylase deficiency|hereditary porphyria cutanea tarda|PCT, type 2|porphyria cutanea tarda type II|porphyria, Hepatocutaneous type Orphanet:95159|UMLS:C0162569|ICD10:E80.1|UMLS:C0268323|Orphanet:101330|SCTID:59229005|OMIM:176100|Orphanet:443062 Editor note: see notes on parent class PCT for discussion of classification into sporadic/familial owl:Class GO:0009101 biolink:NamedThing glycoprotein biosynthetic process The chemical reactions and pathways resulting in the formation of glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpaxzxjjyw_mondo_relaxed.owl glycoprotein formation|glycoprotein synthesis|glycoprotein biosynthesis|glycoprotein anabolism owl:Class UBERON:0002090 biolink:NamedThing postcranial axial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003089 biolink:NamedThing sclerotome tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004128 biolink:NamedThing optic vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010312 biolink:NamedThing immature eye tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014620 biolink:NamedThing myoclonic dystonia 26 Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene. tmpaxzxjjyw_mondo_relaxed.owl dystonia 26, myoclonic|myoclonic dystonia type 26|myoclonus-dystonia syndrome caused by mutation in KCTD17|DYT26|KCTD17 myoclonus-dystonia syndrome UMLS:C4225341|DOID:0090036|OMIM:616398 owl:Class MONDO:0005645 biolink:NamedThing ancylostomiasis Infection by hookworms of the genus Ancylostoma. tmpaxzxjjyw_mondo_relaxed.owl Ancylostoma infectious disease|Ancylostoma duodenale infection|Ancylostoma disease or disorder|hookworm infection|Ancylostoma caused disease or disorder GARD:0009742|ICD10:B76.8|EFO:0007145|UMLS:C0002831|ICD9:126.9|MedDRA:10002255|ICD10:B76.0|ICD9:126.8|MESH:D000724|ICD10:B76.1|Orphanet:78|DOID:12841|SCTID:63479002|ICD10:B76.9|NCIT:C35805|MedDRA:10020376 owl:Class NCBITaxon:29169 biolink:NamedThing Ancylostoma tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001825 biolink:NamedThing paranasal sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000021 biolink:NamedThing cutaneous appendage tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006058 biolink:NamedThing multi-limb segment region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010039 biolink:NamedThing food storage organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005409 biolink:NamedThing alimentary part of gastrointestinal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013474 biolink:NamedThing hypertrophic cardiomyopathy 17 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic cardiomyopathy caused by mutation in JPH2|CMH17|cardiomyopathy, familial hypertrophic, type 17|cardiomyopathy familial hypertrophic 17|cardiomyopathy, familial hypertrophic, 17|JPH2 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy type 17 OMIM:613873|DOID:0110323|UMLS:C3151264 owl:Class HGNC:14202 biolink:NamedThing JPH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:9000171 biolink:NamedThing exposure to acetate An exposure to acetate. tmpaxzxjjyw_mondo_relaxed.owl exposure to acetate owl:Class HGNC:18623 biolink:NamedThing COG8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009501 biolink:NamedThing mesenchyme of fronto-nasal process tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004066 biolink:NamedThing frontonasal prominence tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005634 biolink:NamedThing acute hemorrhagic conjunctivitis Acute conjunctivitis that is characterized by bleeding into the conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl epidemic hemorrhagic conjunctivitis|viral conjunctivitis|Apollo disease SCTID:398264003|NCIT:C34505|MESH:D003232|ICD9:077.4|UMLS:C0009765|EFO:0007131|DOID:11227 owl:Class NCBITaxon:12090 biolink:NamedThing Enterovirus D70 tmpaxzxjjyw_mondo_relaxed.owl Enterovirus type 70|Human enterovirus 70|Enterovirus 70 GC_ID:1 NCBITaxon:36405 ncbi_taxonomy owl:Class GO:0045061 biolink:NamedThing thymic T cell selection The process of T cell selection that occurs in the thymus. tmpaxzxjjyw_mondo_relaxed.owl thymic T-lymphocyte selection|thymic T lymphocyte selection|thymic T-cell selection owl:Class GO:0033077 biolink:NamedThing T cell differentiation in thymus The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus. tmpaxzxjjyw_mondo_relaxed.owl T cell development in thymus|thymic T cell differentiation|thymocyte cell differentiation|thymocyte differentiation owl:Class OBO:CHR_9606-chr5p1 biolink:NamedThing 5p1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 48800000 0 hg38 owl:Class CHEBI:16199 biolink:NamedThing urea A carbonyl group with two C-bound amine groups. The commercially available fertilizer has an analysis of 46-0-0 (N-P2O5-K2O). tmpaxzxjjyw_mondo_relaxed.owl carbamide|ur|H2NC(O)NH2|Carbamide|Urea|Harnstoff|1728|E927b|Karbamid|uree|carbonyldiamide|urea|UREA owl:Class MONDO:0044660 biolink:NamedThing menstrual cycle-dependent periodic fever tmpaxzxjjyw_mondo_relaxed.owl menstrual cycle-dependent febrile episode|luteal-phase-dependent febrile episode|periodic fever, menstrual cycle-dependent|luteal-phase-dependent periodic fever OMIM:614674|UMLS:C3553418|Orphanet:498251 owl:Class HGNC:5286 biolink:NamedThing HTR1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005616 biolink:NamedThing mesenteric artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002018 biolink:NamedThing synovial membrane of synovial joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000996 biolink:NamedThing human-directed construction process An process during which natural or manufactured materials and products are processed and arranged by humans or their technology into structures. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045738 biolink:NamedThing negative regulation of DNA repair Any process that stops, prevents, or reduces the frequency, rate or extent of DNA repair. tmpaxzxjjyw_mondo_relaxed.owl inhibition of DNA repair|down regulation of DNA repair|down-regulation of DNA repair|downregulation of DNA repair owl:Class UBERON:0011595 biolink:NamedThing jaw region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015453 biolink:NamedThing subcutaneous lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4283 biolink:NamedThing GJB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024352 biolink:NamedThing viral respiratory tract infection A respiratory tract infection caused by a virus. Viruses represent the most common causes of upper and lower respiratory tract infections and include rhinoviruses, influenza viruses, parainfluenza viruses, and respiratory syncytial virus. tmpaxzxjjyw_mondo_relaxed.owl viral respiratory tract infection NCIT:C27219|ICD9:519.8|SCTID:312133006 owl:Class UBERON:0000065 biolink:NamedThing respiratory tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001108 biolink:NamedThing broad ligament malignant neoplasm A malignant neoplasm involving the broad ligament of uterus. tmpaxzxjjyw_mondo_relaxed.owl broad ligament of uterus cancer|malignant neoplasm of broad ligament of uterus|malignant broad ligament of uterus neoplasm|cancer of broad ligament of uterus UMLS:C0346866|ICD10:C57.1|DOID:10744|ICD9:183.3|SCTID:449259009 owl:Class UBERON:0012332 biolink:NamedThing broad ligament of uterus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021627 biolink:NamedThing eyelid capillary hemangioma A capillary hemangioma arising from the eyelid. tmpaxzxjjyw_mondo_relaxed.owl capillary hemangioma of eyelid|capillary angioma of the lid|capillary hemangioma of the lid|eyelid capillary hemangioma|capillary hemangioma of the eyelid|capillary angioma of the eyelid|capillary hemangioma of lid|capillary angioma of eyelid|capillary angioma of lid|eyelid capillary angioma SCTID:231828003|NCIT:C4357|UMLS:C0339110 owl:Class MONDO:0012518 biolink:NamedThing congenital myasthenic syndrome 12 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene. tmpaxzxjjyw_mondo_relaxed.owl myasthenic syndrome, congenital, with tubular aggregates 1|GFPT1 congenital myasthenic syndromes with glycosylation defect|myasthenic syndrome, congenital, type 12|congenital myasthenia 12 with tubular aggregates|CMS12|congenital myasthenic syndrome type 12|congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1|myasthenic syndrome, congenital, 12 Orphanet:353327|OMIM:610542|Orphanet:590|DOID:0110660 owl:Class HGNC:4241 biolink:NamedThing GFPT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010817 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 2A Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant deafness 2A|KCNQ4 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 2A|autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4|deafness, autosomal dominant 2A|deafness, autosomal dominant type 2A|autosomal dominant nonsyndromic deafness 2A|DFNA2A ICD10:H90.3|UMLS:C2677637|MESH:C567441|OMIM:600101|DOID:0110558 owl:Class HGNC:6298 biolink:NamedThing KCNQ4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001450 biolink:NamedThing calcaneus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005502 biolink:NamedThing dengue disease Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS). tmpaxzxjjyw_mondo_relaxed.owl DF|Dengue fever|Dengue|Dengue virus infection|Dengue virus caused disease or disorder|break bone fever|classical dengue|Thai hemorrhagic fever|classic dengue|Philippine hemorrhagic fever|breakbone fever|Dengue virus infectious disease|hemorrhagic dengue|Singapore hemorrhagic fever|Dengue virus disease or disorder Orphanet:99828|UMLS:C0376300|ICD10:A97.1|ICD10:A97.0|DOID:12205|NCIT:C34528|EFO:0005547|GARD:0006254|MedDRA:10012310|SCTID:38362002|ICD10:A90|OMIM:614371|MESH:D003715|ICD10:A97.9|ICD9:061|ICD10:A97.2|UMLS:C0011311 owl:Class HP:0002013 biolink:NamedThing Vomiting Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. tmpaxzxjjyw_mondo_relaxed.owl Vomiting|Throwing up|Emesis SNOMEDCT_US:300359004|SNOMEDCT_US:422400008|SNOMEDCT_US:249497008|MEDDRA:10047700|MSH:D014839|UMLS:C0042963 human_phenotype owl:Class OBO:CHR_9606-chr14 biolink:NamedThing chromosome 14 (Human) tmpaxzxjjyw_mondo_relaxed.owl 14 107043718 0 hg38 owl:Class MONDO:0008603 biolink:NamedThing trigonocephaly 1 Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene. tmpaxzxjjyw_mondo_relaxed.owl TRIGNO1|trigonocephaly type 1|craniosynostosis, metopic|trigonocephaly 1|isolated trigonocephaly caused by mutation in FGFR1|FGFR1 isolated trigonocephaly Orphanet:3366|OMIM:190440 owl:Class HGNC:3688 biolink:NamedThing FGFR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001357 biolink:NamedThing desert A landform which has been rendered barren or partially barren by environmental extremes, especially by low rainfall. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00000097 biolink:NamedThing desert area A region rendered barren or partially barren by environmental extremes, especially by low rainfall. tmpaxzxjjyw_mondo_relaxed.owl arid region owl:Class HGNC:886 biolink:NamedThing ATRX tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032147 biolink:NamedThing activation of protein kinase activity Any process that initiates the activity of an inactive protein kinase. tmpaxzxjjyw_mondo_relaxed.owl protein kinase activation owl:Class HGNC:9688 biolink:NamedThing CAVIN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0032748 biolink:NamedThing sacral spinal cord ventral horn tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0029503 biolink:NamedThing sacral spinal cord gray matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005537 biolink:NamedThing perianal Crohn disease An Crohn disease involving a pathogenic inflammatory response in the anal canal. tmpaxzxjjyw_mondo_relaxed.owl perianal Crohn's disease EFO:0005627|SCTID:235796008|UMLS:C0341395 owl:Class UBERON:0001353 biolink:NamedThing anal region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035881 biolink:NamedThing ethmoidomaxillary suture tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025506 biolink:NamedThing porcine postweaning multisystemic wasting syndrome A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by porcine circovirus infection, specifically type 2 or PCV-2. tmpaxzxjjyw_mondo_relaxed.owl postweaning multisystemic wasting syndrome, porcine MESH:D053570|UMLS:C1721016 owl:Class NCBITaxon:85708 biolink:NamedThing Porcine circovirus 2 tmpaxzxjjyw_mondo_relaxed.owl Porcine circovirus type 2|Porcine circovirus-2|Porcine circovirus Type II|PCV2 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013608 biolink:NamedThing Joubert syndrome 13 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN1 gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome type 13|Joubert syndrome caused by mutation in TCTN1|TCTN1 Joubert syndrome|JBTS13|Joubert syndrome 13 Orphanet:475|UMLS:C3280031|OMIM:614173|DOID:0110982 owl:Class HGNC:26113 biolink:NamedThing TCTN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002199 biolink:NamedThing integument tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034876 biolink:NamedThing future neurohypophysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001631 biolink:NamedThing vertebral artery insufficiency A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction. tmpaxzxjjyw_mondo_relaxed.owl vertebral artery syndrome SCTID:34781003|MESH:D014715|UMLS:C0042560|ICD9:435.1|DOID:13095|NCIT:C35123 owl:Class UBERON:0001535 biolink:NamedThing vertebral artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014645 biolink:NamedThing BENTA disease BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N tmpaxzxjjyw_mondo_relaxed.owl Culex GC_ID:1 NCBITaxon:44555 ncbi_taxonomy owl:Class GO:0007595 biolink:NamedThing lactation The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young. tmpaxzxjjyw_mondo_relaxed.owl milk secretion owl:Class MONDO:0006228 biolink:NamedThing gastric papillary adenocarcinoma A variant of gastric adenocarcinoma with exophytic growth and elongated finger-like processes lined by cylindrical or cuboidal cells supported by fibrovascular connective tissue cores. tmpaxzxjjyw_mondo_relaxed.owl papillary adenocarcinoma of the stomach|stomach papillary adenocarcinoma|papillary adenocarcinoma of stomach|papillary stomach adenocarcinoma|gastric papillary adenocarcinoma UMLS:C1333785|EFO:1000276|ONCOTREE:PSTAD|NCIT:C5472|DOID:5593 owl:Class MONDO:0007538 biolink:NamedThing amelogenesis imperfecta, type 3A Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene. tmpaxzxjjyw_mondo_relaxed.owl amelogenesis imperfecta, type IIIA|amelogenesis imperfecta, type III|FAM83H amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in FAM83H|amelogenesis imperfecta hypomineralization type|autosomal dominant amelogenesis imperfecta hypocalcification type|amelogenesis imperfecta, hypomineralization type|ADHCAI|amelogenesis imperfecta type 3A|amelogenesis imperfecta, type 3|amelogenesis imperfecta type 3|AI3|amelogenesis imperfecta, type 3A|AI3A|amelogenesis imperfecta, hypocalcification type, autosomal dominant|amelogenesis imperfecta type III OMIM:616221|MESH:C562880|SCTID:109471001|ICD10:K00.5|OMIM:130900|Orphanet:100032|DOID:0110055 owl:Class HGNC:24797 biolink:NamedThing FAM83H tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014750 biolink:NamedThing primary ciliary dyskinesia 33 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the GAS8 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia type 33|GAS8 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in GAS8|ciliary dyskinesia, primary, 33, without situs inversus|primary ciliary dyskinesia 33 without situs inversus|CILD33|ciliary dyskinesia, primary, 33|ciliary dyskinesia, primary, type 33 UMLS:C4225230|ICD10:Q34.8|OMIM:616726|DOID:0110619 owl:Class HGNC:4166 biolink:NamedThing GAS8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014042 biolink:NamedThing left ventricular noncompaction 7 Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene. tmpaxzxjjyw_mondo_relaxed.owl left ventricular noncompaction 7|left ventricular noncompaction type 7|LVNC7|left ventricular noncompaction caused by mutation in MIB1|MIB1 left ventricular noncompaction OMIM:615092|Orphanet:54260|UMLS:C3554496 owl:Class HGNC:21086 biolink:NamedThing MIB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008338 biolink:NamedThing plantar part of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014160 biolink:NamedThing TCR-alpha-beta-positive T-cell deficiency A non-severe combined immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR- gamma|delta, but little or no TCR-alpha|beta. tmpaxzxjjyw_mondo_relaxed.owl IMD7|immunodeficiency 7, TCR-alpha/beta deficient|T-cell receptor-ALPHA/BETA deficiency|TCR-alpha-beta+ T-cell deficiency|immunodeficiency 7|TCR-Alpha/Beta deficiency OMIM:615387|UMLS:C3809332|Orphanet:397959|ICD10:D84.8|DOID:0111977 owl:Class HGNC:12029 biolink:NamedThing TRAC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013404 biolink:NamedThing hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency is characterised by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninaemia and elevated serum creatine kinase levels. tmpaxzxjjyw_mondo_relaxed.owl hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency|hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency|psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency|hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase UMLS:C3151058|OMIM:613752|SCTID:724039002|DOID:0111039|UMLS:C4510276|ICD10:E72.1|Orphanet:88618|GARD:0013177 owl:Class HGNC:343 biolink:NamedThing AHCY tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017799 biolink:NamedThing Meigs syndrome A rare syndrome affecting females. It is characterized by pleural effusion, ascites and non-malignant ovarian neoplasm. This syndrome usually follows a benign course. Prognosis is favorable following surgical resection of the ovarian mass. tmpaxzxjjyw_mondo_relaxed.owl Demons-Meigs syndrome|Meigs' syndrome NCIT:C3223|MedDRA:10027139|ICD9:629.89|Orphanet:314451|ICD10:D27|UMLS:C0025184|SCTID:63402005|MESH:D008539 owl:Class CHEBI:25985 biolink:NamedThing phenylalanine derivative An amino acid derivative resulting from reaction of alanine at the amino group or the carboxy group, or from the replacement of any hydrogen of phenylalanine by a heteroatom. The definition normally excludes peptides containing phenylalanine residues. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009733 biolink:NamedThing nephrotic syndrome, type 4 Nephrotic syndrome within the first three motnhs of life, characterized initially by increased mesangial matrix, with or without hypertrophy and hyperplasia of podocytes, and eventual glomerular sclerosis. tmpaxzxjjyw_mondo_relaxed.owl diffuse mesangial sclerosis|familial mesangial sclerosis|WT1 nephrotic syndrome|congenital nephrotic syndrome - diffuse mesangial sclerosis|mesangial sclerosis, diffuse|diffuse isolated mesangial sclerosis|nephrotic syndrome, type 4|nephrotic syndrome, early onset with diffuse mesangial sclerosis|NPHS4|nephrotic syndrome caused by mutation in WT1|isolated diffuse mesangial sclerosis|DMS OMIM:256370|GARD:0003547|NCIT:C121198|DOID:0080383 owl:Class HGNC:12796 biolink:NamedThing WT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005187 biolink:NamedThing human herpesvirus 8 infection An infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma. tmpaxzxjjyw_mondo_relaxed.owl Human Herpes Virus 8 infection|HHV8 infection|Human Herpesvirus 8 infection NCIT:C39291|EFO:0002612|UMLS:C1512508 owl:Class NCBITaxon:37296 biolink:NamedThing Human gammaherpesvirus 8 tmpaxzxjjyw_mondo_relaxed.owl Human herpesvirus 8 type P|Kaposi's sarcoma-associated herpesvirus - Human herpesvirus 8|Human herpesvirus 8|Kaposi's sarcoma-associated herpesvirus|Kaposi's sarcoma-associated herpes-like virus|Kaposi's sarcoma herpesvirus|HHV8|KSHV GC_ID:1 NCBITaxon:435896 ncbi_taxonomy owl:Class CHEBI:33497 biolink:NamedThing transition element molecular entity A molecular entity containing one or more atoms of a transition element. tmpaxzxjjyw_mondo_relaxed.owl transition element molecular entities|transition metal molecular entity owl:Class MONDO:0014829 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 4 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency-centromeric instability-Facial anomalies syndrome type 4|ICF4|immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4|immunodeficiency-centromeric instability-facial anomalies syndrome type 4|immunodeficiency-centromeric instability-Facial anomalies syndrome 4|HELLS immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS|ICF syndrome 4 DOID:0090011|OMIM:616911|UMLS:C4310798|ICD10:D84.8 owl:Class GO:0060764 biolink:NamedThing cell-cell signaling involved in mammary gland development Any process that mediates the transfer of information from one cell to another and contributes to the progression of the mammary gland, from its initial state to the mature structure. tmpaxzxjjyw_mondo_relaxed.owl cell-cell signalling involved in mammary gland development owl:Class CHEBI:35221 biolink:NamedThing antimetabolite A substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization. tmpaxzxjjyw_mondo_relaxed.owl antimetabolites|antimetabolite owl:Class MONDO:0013277 biolink:NamedThing developmental and epileptic encephalopathy, 5 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 5|epileptic encephalopathy, early infantile, type 5|EIEE5|early infantile epileptic encephalopathy caused by mutation in SPTAN1|DEE5|SPTAN1 early infantile epileptic encephalopathy Orphanet:3451|OMIM:613477|UMLS:C3150731|DOID:0080438 owl:Class HGNC:11273 biolink:NamedThing SPTAN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1001576 biolink:NamedThing oral mucosa squamous cell Squamous cell of oral epithelium. tmpaxzxjjyw_mondo_relaxed.owl oral cavity mucosa squamous cell|oral cavity mucosa squamous epithelial cell|oral mucosa squamous epithelial cell|oral mucosa squamous epithelial cells CALOHA:TS-1252 owl:Class UBERON:0002424 biolink:NamedThing oral epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010938 biolink:NamedThing T-B+ severe combined immunodeficiency due to JAK3 deficiency Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. tmpaxzxjjyw_mondo_relaxed.owl severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency|T-B+ severe combined immunodeficiency due to JAK3 deficiency|T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency|SCID, T cell-negative, B cell-positive, NK cell-negative|T-B+ SCID due to JAK3 deficiency|severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE ICD10:D81.2|SCTID:718107000|UMLS:C1833275|OMIM:600802|MESH:C563440|UMLS:C4273742|Orphanet:35078 owl:Class UBERON:0022276 biolink:NamedThing splenic flexure of colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001390 biolink:NamedThing transient refractive change tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155000|SCTID:81519008|ICD9:367.81|DOID:11850 owl:Class GO:0120188 biolink:NamedThing regulation of bile acid secretion Any process that modulates the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032782 biolink:NamedThing bile acid secretion The regulated release of bile acid, composed of any of a group of steroid carboxylic acids occurring in bile, by a cell or a tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000106 biolink:NamedThing zygote stage A stage at which the organism is a single cell produced by means of sexual reproduction. tmpaxzxjjyw_mondo_relaxed.owl one cell stage|1-cell stage|one-cell stage|fertilized egg stage|zygote|zygotum owl:Class GO:2000737 biolink:NamedThing negative regulation of stem cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014851 biolink:NamedThing hypercalcemia, infantile, 2 Any hypercalcemia, infantile in which the cause of the disease is a mutation in the SLC34A1 gene. tmpaxzxjjyw_mondo_relaxed.owl hypercalcemia, infantile, 2|hypercalcemia, infantile 2|HCINF2|autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1|hypercalcemia, infantile, type 2|SLC34A1 autosomal recessive infantile hypercalcemia UMLS:CN847585|UMLS:C4310473|OMIM:616963|UMLS:CN774236|UMLS:CN262351 owl:Class UBERON:0007288 biolink:NamedThing presumptive forebrain midbrain boundary tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005075 biolink:NamedThing forebrain-midbrain boundary tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009891 biolink:NamedThing facial mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:15469 biolink:NamedThing DNAJC6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002615 biolink:NamedThing xanthomatosis A condition marked by the development of widespread xanthomas, yellow tumor-like structures filled with lipid deposits. Xanthomas can be found in a variety of tissues including the skin; tendons; joints of knees and elbows. Xanthomatosis is associated with disturbance of lipid metabolism and formation of foam cells. tmpaxzxjjyw_mondo_relaxed.owl xanthelasmatosis|xanthomatosis|xanthomatosis (disease) xanthomatosis (disease) DOID:3345|UMLS:C0043325|HP:0000991|SCTID:63103006 owl:Class ENVO:01000820 biolink:NamedThing pedosphere An astronomical body part which is composed of soil, subject to soil formation processes, and found on the surface of a lithosphere. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009778 biolink:NamedThing pleural sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010561 biolink:NamedThing negative regulation of glycoprotein biosynthetic process Any process that decreases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010891 biolink:NamedThing negative regulation of sequestering of triglyceride Any process that decreases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of triglyceride sequestration|negative regulation of sequestering of triacylglycerol owl:Class GO:0030730 biolink:NamedThing sequestering of triglyceride The process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. tmpaxzxjjyw_mondo_relaxed.owl triacylglycerol retention|retention of triacylglycerol|triacylglycerol storage|sequestration of triglyceride|storage of triglyceride|triacylglycerol sequestering|storage of triacylglycerol|triglyceride sequestration|triacylglycerol sequestration|triglyceride retention|triglyceride storage|triglyceride sequestering|retention of triglyceride|sequestration of triacylglycerol|sequestering of triacylglycerol owl:Class UBERON:0010334 biolink:NamedThing maxillary process mesenchyme from neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014740 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 68 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 68|autosomal dominant nonsyndromic deafness 68|HOMER2 autosomal dominant nonsyndromic deafness|DFNA68|autosomal dominant nonsyndromic deafness caused by mutation in HOMER2|autosomal dominant deafness 68|deafness, autosomal dominant type 68|deafness, autosomal dominant 68 DOID:0110589|ICD10:H90.3|UMLS:C4225240|OMIM:616707 owl:Class HGNC:17513 biolink:NamedThing HOMER2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17861 biolink:NamedThing TRAF3IP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:25212 biolink:NamedThing metabolite Any intermediate or product resulting from metabolism. The term 'metabolite' subsumes the classes commonly known as primary and secondary metabolites. tmpaxzxjjyw_mondo_relaxed.owl secondary metabolites|primary metabolites|metabolite|metabolites owl:Class MONDO:0100188 biolink:NamedThing combined ApoA-I and ApoC-III deficiency A hypoalphalipoproteinemia that is has its basis in the disruption of ApoA-I and ApoC-III. tmpaxzxjjyw_mondo_relaxed.owl ApoA-I and apoC-III deficiency, combined http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:610 biolink:NamedThing APOC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000843 biolink:NamedThing follicular B cell A resting mature B cell that has the phenotype IgM-positive, IgD-positive, CD23-positive and CD21-positive, and found in the B cell follicles of the white pulp of the spleen or the corticol areas of the peripheral lymph nodes. This cell type is also described as being CD19-positive, B220-positive, AA4-negative, CD43-negative, and CD5-negative. tmpaxzxjjyw_mondo_relaxed.owl follicular B-cell|Fo B-cell|follicular B-lymphocyte|Fo B cell|follicular B lymphocyte Follicular B cells are also reportedly CD48-positive, CD84-positive, CD229-positive, and CD352-positive. cell owl:Class UBERON:0012274 biolink:NamedThing columnar epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011987 biolink:NamedThing cone-rod dystrophy 13 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene. tmpaxzxjjyw_mondo_relaxed.owl RPGRIP1 cone-rod dystrophy|cone-rod dystrophy type 13|cone-rod dystrophy 13|CORD13|cone-rod dystrophy caused by mutation in RPGRIP1 UMLS:C2750720|OMIM:608194|MESH:C567698|DOID:0111016 owl:Class HGNC:13436 biolink:NamedThing RPGRIP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr3q1 biolink:NamedThing 3q1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 122200000 90900000 hg38 owl:Class CL:0002606 biolink:NamedThing astrocyte of the spinal cord An astrocyte of the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T07:11:26Z cell owl:Class MONDO:0001541 biolink:NamedThing plantar nerve lesion A peripheral nerve lesion that involves the plantar nerve. tmpaxzxjjyw_mondo_relaxed.owl plantar nerve peripheral nerve lesion|lesion of plantar nerve|peripheral nerve lesion of plantar nerve ICD10:G57.60|DOID:12524|UMLS:C0154752|ICD10:G57.6|SCTID:193148004|ICD9:355.6 owl:Class UBERON:0035109 biolink:NamedThing plantar nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019307 biolink:NamedThing epithelium of external nose tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007827 biolink:NamedThing external nose tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXp2 biolink:NamedThing Xp2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 37800000 0 hg38 owl:Class UBERON:0006010 biolink:NamedThing hyaloid canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000179 biolink:NamedThing haemolymphatic fluid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004614 biolink:NamedThing chronic monocytic leukemia Form of leukemia characterized by an uncontrolled proliferation of the myeloid lineage and their precursors (myeloid progenitor cells) in the bone marrow and other sites. tmpaxzxjjyw_mondo_relaxed.owl monocytic leukemia, chronic NCIT:C34774|ICD9:206.1|MESH:D007951|ICD9:206.11|ICD9:206.10|UMLS:C0023466|ICD10:C93.1|SCTID:188745007|DOID:8593 owl:Class UBERON:0001775 biolink:NamedThing ciliary body tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011892 biolink:NamedThing anterior uvea tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001824 biolink:NamedThing Weight loss Reduction of total body weight. tmpaxzxjjyw_mondo_relaxed.owl Loss of weight SNOMEDCT_US:262285001|SNOMEDCT_US:161832001|MSH:D015431|UMLS:C1262477|SNOMEDCT_US:89362005 human_phenotype owl:Class UBERON:0035927 biolink:NamedThing sulcus of parietal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001872 biolink:NamedThing parietal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022656 biolink:NamedThing cardiomyopathy spherocytosis tmpaxzxjjyw_mondo_relaxed.owl GARD:0001110 https://rarediseases.info.nih.gov/diseases/1110/cardiomyopathy-spherocytosis owl:Class HP:0004444 biolink:NamedThing Spherocytosis The presence of erythrocytes that are sphere-shaped. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0553720|SNOMEDCT_US:17235000 Erythrocytes are normally biconcave rather than spherical. peter 2008-03-18T10:05:00Z HP:0004816 human_phenotype owl:Class UBERON:0004266 biolink:NamedThing upper leg connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11918 biolink:NamedThing TNFRSF4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003432 biolink:NamedThing chest nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018398 biolink:NamedThing female infertility due to a congenital hypogonadotropic hypogonadism tmpaxzxjjyw_mondo_relaxed.owl rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism 2022-03-01 Orphanet:399839|ICD10:N97.0 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: female infertility' MONDO_0021124 owl:Class UBERON:0011156 biolink:NamedThing facial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017640 biolink:NamedThing cyanide-induced parkinsonism Cyanide-induced parkinsonism is a rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:306692|SCTID:766872002|ICD10:G21.2|UMLS:CN203536 owl:Class MONDO:0100163 biolink:NamedThing COVID-19–associated multisystem inflammatory syndrome in children A inflammatory syndrome in children infected by the SARS-CoV-2 with similarities to Kawasaki disease. Clinical manifestations range from fever and inflammation to myocardial injury, shock, and development of coronary artery aneurysms. tmpaxzxjjyw_mondo_relaxed.owl pediatric multisystem inflammatory syndrome|COVID-19 associated multisystem inflammatory syndrome in children|multisystem inflammatory syndrome in children associated with COVID-19|pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2|multisystem inflammatory syndrome in children associated with coronavirus disease 2019|MIS-C|PIMS|paediatric inflammatory multisystem syndrome: temporally associated with SARS-CoV-2|COVID-19 -related pediatric inflammatory multisystem syndrome|pediatric multi-system inflammatory syndrome potentially associated with COVID-19|multisystem inflammatory syndrome in children|pediatric inflammatory multisystem syndrome|PIMS-TS|PMIS|COVID-19 Kawasaki-like syndrome|SARS-CoV-2 Kawasaki-like syndrome DOID:0080711|NCIT:C172127 The clinical presentation of MIS-C includes fever, severe illness, and the involvement of two or more organ systems, in combination with laboratory evidence of inflammation and laboratory or epidemiologic evidence of SARS-CoV-2 infection. Some features of MIS-C resemble Kawasaki Disease, toxic shock syndrome, and secondary hemophagocytic lymphohistiocytosis/macrophage activation syndrome. http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0023249 biolink:NamedThing polyarticular juvenile rheumatoid arthritis tmpaxzxjjyw_mondo_relaxed.owl Polyarticular juvenile rheumatoid arthritis|Juvenile polyarthritis rheumatoid factor negative|Juvenile polyarthritis rheumatoid factor positive UMLS:C0311221|GARD:0010967|SCTID:445479007 owl:Class UBERON:0012071 biolink:NamedThing palate bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012072 biolink:NamedThing palatal part of dermatocranium tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000544 biolink:NamedThing boundary layer A boundary layer is a layer of fluid in the immediate vicinity of a bounding surface where the effects of viscosity are significant enough to distort the surrounding non-viscous flow. tmpaxzxjjyw_mondo_relaxed.owl boundary layer owl:Class N19a39028f7c94886960ee1c0b4dbc76b biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0009165 biolink:NamedThing nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). tmpaxzxjjyw_mondo_relaxed.owl nucleotide synthesis|nucleotide biosynthesis|nucleotide anabolism|nucleotide formation owl:Class UBERON:0004223 biolink:NamedThing vagina smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003125 biolink:NamedThing Reduced factor VIII activity Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. tmpaxzxjjyw_mondo_relaxed.owl Factor VIII deficiency MSH:D006467|UMLS:C4025649|SNOMEDCT_US:234440005|UMLS:C3494187 HP:0008349|HP:0008355 human_phenotype owl:Class MONDO:0005866 biolink:NamedThing mycobacterium avium complex disease An infection that is caused by Mycobacterium avium. tmpaxzxjjyw_mondo_relaxed.owl Mycobacterium avium complex infectious disease|Mycobacterium avium infection|disseminated infection with mycobacterium avium complex|Mycobacterium avium complex caused disease or disorder|Mycobacterium avium complex disease or disorder|MAC disease|Mycobacterium avium Complex|infection due to Mycobacterium intracellulare|DMAC ICD9:031.8|GARD:0009236|MESH:D015270|SCTID:373436002|UMLS:C0026916|NCIT:C36197|DOID:2755|EFO:0007386 https://rarediseases.info.nih.gov/diseases/9236/disseminated-infection-with-mycobacterium-avium-complex owl:Class UBERON:0009523 biolink:NamedThing mesenchyme of handplate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002191 biolink:NamedThing subiculum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002421 biolink:NamedThing hippocampal formation tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:36059 biolink:NamedThing hydroxy monocarboxylic acid anion Any monocarboxylic acid anion carrying at least one hydroxy substituent. tmpaxzxjjyw_mondo_relaxed.owl hydroxy monocarboxylic acid anions|hydroxymonocarboxylic acid anion|hydroxymonocarboxylic acid anions owl:Class CHEBI:35868 biolink:NamedThing hydroxy monocarboxylic acid Any monocarboxylic acid which also contains a separate (alcoholic or phenolic) hydroxy substituent. tmpaxzxjjyw_mondo_relaxed.owl hydroxy acid|hydroxy monocarboxylic acids owl:Class MONDO:0014538 biolink:NamedThing fibrosis of extraocular muscles, congenital, 5 Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene. tmpaxzxjjyw_mondo_relaxed.owl COL25A1 congenital fibrosis of extraocular muscles|CFEOM5|congenital fibrosis of extraocular muscles caused by mutation in COL25A1|fibrosis of extraocular muscles, congenital, type 5|fibrosis of extraocular muscles, congenital, 5 OMIM:616219|UMLS:C4015552|Orphanet:45358 owl:Class MONDO:0002624 biolink:NamedThing bone leiomyosarcoma A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl bone leiomyosarcoma|bone tissue leiomyosarcoma|leiomyosarcoma of bone|leiomyosarcoma of bone tissue DOID:3367|UMLS:C1332579|NCIT:C7154 owl:Class MONDO:0011547 biolink:NamedThing cataract 31 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CHMP4B gene. tmpaxzxjjyw_mondo_relaxed.owl CTRCT31|early-onset non-syndromic cataract caused by mutation in CHMP4B|cataract, posterior polar, 3|CPP3|posterior polar cataract 3|CHMP4B early-onset non-syndromic cataract|cataract 31, multiple types|CTPP3 OMIM:605387|GARD:0010227|Orphanet:91492|MESH:C535343|ICD10:Q12.0|DOID:0110265|Orphanet:98993 owl:Class HGNC:16171 biolink:NamedThing CHMP4B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001548 biolink:NamedThing Overgrowth Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. tmpaxzxjjyw_mondo_relaxed.owl Generalised overgrowth|Generalized overgrowth|General overgrowth UMLS:C1849265|UMLS:C1851731|UMLS:C3150281 human_phenotype owl:Class MONDO:0016577 biolink:NamedThing biliary atresia with splenic malformation syndrome Biliary atresia with splenic malformation syndrome (BASM) designates the association of biliary atresia and splenic abnormalities (mainly polysplenia and less frequently asplenia, double spleen). Cardiac defect, situs inversus and a preduodenal portal vein can also be present. It represents the embryonal or syndromic form of biliary atresia. It affects newborns or infants and is characterized by jaundice, pale stools, dark urine, failure to thrive, hepatomegaly, coagulopathy, anemia and often palpable spleen. tmpaxzxjjyw_mondo_relaxed.owl BASM syndrome Orphanet:244283|UMLS:CN201730|SCTID:717156002|UMLS:C4274029|ICD10:Q44.2 owl:Class MONDO:0008867 biolink:NamedThing biliary atresia A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent neonatal jaundice and acholic stool. tmpaxzxjjyw_mondo_relaxed.owl atresia of bile ducts|congenital biliary atresia|atresia of bile duct|non-syndromic biliary atresia|biliary atresia, congenital|isolated biliary atresia|isolated atresia of bile ducts Orphanet:30391|SCTID:77480004|NCIT:C34421|ICD9:751.61|DOID:13608|ICD10:Q44.2|OMIM:210500|MedDRA:10003650|MESH:D001656|UMLS:C0005411|GARD:0012010 https://rarediseases.info.nih.gov/diseases/12010/biliary-atresia owl:Class GO:0016301 biolink:NamedThing kinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl phosphokinase activity owl:Class UBERON:0036302 biolink:NamedThing vasculature of central nervous system plus retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006289 biolink:NamedThing rib pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013799 biolink:NamedThing efavirenz, poor metabolism of tmpaxzxjjyw_mondo_relaxed.owl efavirenz central nervous system toxicity, susceptibility to|efavirenz, poor metabolism of 2022-04-01 OMIM:614546 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class HGNC:2615 biolink:NamedThing CYP2B6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010467 biolink:NamedThing gene expression The process in which a gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005636 biolink:NamedThing caecum epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010090 biolink:NamedThing future falx cerebri tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006059 biolink:NamedThing falx cerebri tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013253 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 3 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51C gene. tmpaxzxjjyw_mondo_relaxed.owl breast-ovarian cancer, familial, susceptibility to, 3|BROVCA3|Rad51C hereditary breast ovarian cancer syndrome|ovarian cancer, familial, susceptibility to, 3|breast-ovarian cancer, familial, susceptibility to, type 3|hereditary breast ovarian cancer syndrome caused by mutation in RAD51C|breast cancer, familial, susceptibility to, 3|RAD51C hereditary breast ovarian cancer syndrome|hereditary breast ovarian cancer syndrome caused by mutation in Rad51C|susceptibility to familial breast-ovarian cancer 3 Orphanet:227535|Orphanet:145|OMIM:613399 owl:Class HGNC:9820 biolink:NamedThing RAD51C tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001703 biolink:NamedThing neurocranium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042110 biolink:NamedThing T cell activation The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpaxzxjjyw_mondo_relaxed.owl T lymphocyte activation|T-lymphocyte activation|T-cell activation owl:Class GO:0001816 biolink:NamedThing cytokine production The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. tmpaxzxjjyw_mondo_relaxed.owl interferon production|interleukin secretion|cytokine biosynthetic process|interleukin production|cytokine secretion|cytokine metabolic process|interferon secretion owl:Class MONDO:0021514 biolink:NamedThing benign neoplasm of pericardium A benign neoplasm that involves the pericardium. tmpaxzxjjyw_mondo_relaxed.owl benign pericardial tumor|benign pericardial neoplasm|benign tumor of the pericardium|pericardium benign neoplasm|benign neoplasm of the pericardium|benign tumor of pericardium SCTID:92289001|NCIT:C8536|UMLS:C0685118 owl:Class GO:0051153 biolink:NamedThing regulation of striated muscle cell differentiation Any process that modulates the frequency, rate or extent of striated muscle cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051146 biolink:NamedThing striated muscle cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle. tmpaxzxjjyw_mondo_relaxed.owl voluntary muscle cell differentiation owl:Class UBERON:0003500 biolink:NamedThing corneal blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011645 biolink:NamedThing iliofemoralis muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019173 biolink:NamedThing rabies Rabies is a viral zoonosis leading to a fatal encephalopathy if not treated. tmpaxzxjjyw_mondo_relaxed.owl lyssa ICD10:A82.1|ICD10:A82|MedDRA:10037742|UMLS:C0034494|DOID:11260|MESH:D011818|NCIT:C28182|SCTID:14168008|ICD10:A82.0|ICD9:071|GARD:0007516|Orphanet:770|ICD10:A82.9 https://rarediseases.info.nih.gov/diseases/7516/rabies owl:Class HP:0000739 biolink:NamedThing Anxiety Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. tmpaxzxjjyw_mondo_relaxed.owl Excessive, persistent worry and fear|Anxiety|Anxiousness|Anxiety disease SNOMEDCT_US:48694002|MSH:D001007|UMLS:C0003467|UMLS:C4020884 human_phenotype owl:Class MONDO:0011686 biolink:NamedThing DNA ligase IV deficiency LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). tmpaxzxjjyw_mondo_relaxed.owl ligase 4 syndrome|LIG4 syndrome|DNA ligase IV deficiency SCTID:724177005|ICD10:D81.1|NCIT:C122657|Orphanet:99812|DOID:0060021|MESH:C564694|UMLS:C1847827|OMIM:606593 owl:Class HGNC:6601 biolink:NamedThing LIG4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003307 biolink:NamedThing Hyperlordosis Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine. tmpaxzxjjyw_mondo_relaxed.owl Lordosis|Prominent swayback MSH:D008141|SNOMEDCT_US:249710008|UMLS:C0024003|SNOMEDCT_US:61960001 HP:0002939 human_phenotype owl:Class HGNC:12736 biolink:NamedThing WIPF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014115 biolink:NamedThing hypomyelination with brain stem and spinal cord involvement and leg spasticity tmpaxzxjjyw_mondo_relaxed.owl aspartyl-tRNA synthetase deficiency|hypomyelination with brainstem and spinal cord involvement and leg spasticity|HBSL Orphanet:363412|OMIM:615281|ICD10:E75.2|UMLS:C3809008 owl:Class HGNC:2678 biolink:NamedThing DARS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000170 biolink:NamedThing glucagon secreting cell A cell that secretes glucagon. tmpaxzxjjyw_mondo_relaxed.owl glucagon-secreting cell FMA:84045 cell owl:Class GO:0070091 biolink:NamedThing glucagon secretion The regulated release of glucagon from secretory granules in the A (alpha) cells of the pancreas (islets of Langerhans). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013244 biolink:NamedThing brachydactyly type E2 Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, type E2|brachydactyly type E2|BDE2|PTHLH brachydactyly type E|brachydactyly type E caused by mutation in PTHLH UMLS:C3150644|OMIM:613382|DOID:0110976|Orphanet:93387 owl:Class HGNC:9607 biolink:NamedThing PTHLH tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003846 biolink:NamedThing thymus epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr11p15 biolink:NamedThing 11p15 (Human) tmpaxzxjjyw_mondo_relaxed.owl 22000000 0 hg38 owl:Class OBO:CHR_9606-chr11p1 biolink:NamedThing 11p1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 53400000 0 hg38 owl:Class OBO:CHR_9606-chr19q13.11 biolink:NamedThing 19q13.11 (Human) tmpaxzxjjyw_mondo_relaxed.owl 35100000 31900000 hg38 owl:Class CHEBI:18049 biolink:NamedThing piperidine An azacycloalkane that is cyclohexane in which one of the carbons is replaced by a nitrogen. It is a metabolite of cadaverine, a polyamine found in the human intestine. tmpaxzxjjyw_mondo_relaxed.owl Piperidine|pentamethylenimine|hexazane|Piperidin|Hexahydropyridine|cyclopentimine|azinane|Azacyclohexane|pentamethyleneamine|cypentil|pip|pentamethyleneimine|perhydropyridine|piperidine owl:Class CHEBI:48355 biolink:NamedThing non-polar solvent tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000381 biolink:NamedThing infiltrating renal pelvis transitional cell carcinoma A infiltrating urothelial carcinoma that involves the renal pelvis. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050620 owl:Class SO:1000045 biolink:NamedThing ring_chromosome A ring chromosome is a chromosome whose arms have fused together to form a ring, often with the loss of the ends of the chromosome. tmpaxzxjjyw_mondo_relaxed.owl (fungi)C|(Drosophila)R|ring chromosome owl:Class UBERON:0001132 biolink:NamedThing parathyroid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0140238 biolink:NamedThing presynaptic endocytosis A vesicle-mediated transport process in which the presynapse take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009815 biolink:NamedThing autosomal recessive osteopetrosis 1 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene. tmpaxzxjjyw_mondo_relaxed.owl osteopetrosis, autosomal recessive type 1|osteopetrosis, autosomal recessive 1|OPTB1|autosomal recessive Albers-Schonberg disease|osteopetrosis, infantile malignant 1|marble bones autosomal recessive|autosomal recessive osteopetrosis type 1|TCIRG1 autosomal recessive malignant osteopetrosis|autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1|autosomal recessive osteopetrosis 1|Albers-Schonberg disease, autosomal recessive|osteopetrosis infantile malignant 1|infantile malignant osteopetrosis 1|osteopetrosis autosomal recessive 1|autosomal recessive osteopetrosis caused by mutation in TCIRG1|TCIRG1 autosomal recessive osteopetrosis|marble bones, autosomal recessive Orphanet:667|DOID:0110942|GARD:0002579|OMIM:259700|MESH:C564915 https://rarediseases.info.nih.gov/diseases/2579/osteopetrosis-autosomal-recessive-1 owl:Class HGNC:11647 biolink:NamedThing TCIRG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:91007 biolink:NamedThing aromatic carboxylate A carboxylic acic anion obtained by deprotonation of the carboxy group of any aromatic carboxylic acid. Major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl an aromatic carboxylate owl:Class GO:0070126 biolink:NamedThing mitochondrial translational termination The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa). tmpaxzxjjyw_mondo_relaxed.owl mitochondrial translation termination owl:Class GO:1904775 biolink:NamedThing positive regulation of ubiquinone biosynthetic process Any process that activates or increases the frequency, rate or extent of ubiquinone biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of ubiquinone anabolism|activation of coenzyme Q biosynthesis|up-regulation of coenzyme Q10 biosynthetic process|up regulation of coenzyme Q10 biosynthetic process|up regulation of ubiquinone biosynthesis|up regulation of ubiquinone synthesis|upregulation of ubiquinone synthesis|upregulation of coenzyme Q9 biosynthesis|positive regulation of ubiquinone biosynthesis|up-regulation of coenzyme Q6 biosynthetic process|activation of coenzyme Q10 biosynthesis|activation of coenzyme Q9 biosynthesis|positive regulation of coenzyme Q8 biosynthetic process|upregulation of ubiquinone formation|activation of coenzyme Q6 biosynthesis|up-regulation of coenzyme Q10 biosynthesis|up regulation of coenzyme Q biosynthetic process|positive regulation of coenzyme Q9 biosynthesis|up regulation of coenzyme Q6 biosynthetic process|positive regulation of ubiquinone anabolism|positive regulation of coenzyme Q6 biosynthesis|upregulation of ubiquinone biosynthesis|activation of ubiquinone biosynthetic process|upregulation of coenzyme Q6 biosynthetic process|positive regulation of ubiquinone synthesis|up-regulation of coenzyme Q biosynthesis|activation of coenzyme Q8 biosynthesis|up regulation of ubiquinone anabolism|upregulation of ubiquinone anabolism|up regulation of ubiquinone biosynthetic process|up regulation of coenzyme Q9 biosynthesis|positive regulation of coenzyme Q biosynthesis|up regulation of coenzyme Q8 biosynthesis|upregulation of coenzyme Q9 biosynthetic process|activation of coenzyme Q biosynthetic process|positive regulation of coenzyme Q6 biosynthetic process|positive regulation of coenzyme Q9 biosynthetic process|activation of ubiquinone synthesis|positive regulation of coenzyme Q10 biosynthetic process|activation of coenzyme Q10 biosynthetic process|activation of ubiquinone formation|up-regulation of coenzyme Q8 biosynthesis|activation of coenzyme Q9 biosynthetic process|upregulation of coenzyme Q6 biosynthesis|up-regulation of coenzyme Q8 biosynthetic process|upregulation of coenzyme Q biosynthetic process|up-regulation of coenzyme Q6 biosynthesis|activation of coenzyme Q6 biosynthetic process|up regulation of coenzyme Q biosynthesis|up-regulation of ubiquinone synthesis|upregulation of ubiquinone biosynthetic process|up regulation of coenzyme Q6 biosynthesis|up regulation of coenzyme Q10 biosynthesis|activation of coenzyme Q8 biosynthetic process|up-regulation of ubiquinone formation|upregulation of coenzyme Q biosynthesis|upregulation of coenzyme Q10 biosynthetic process|upregulation of coenzyme Q8 biosynthesis|up-regulation of ubiquinone biosynthesis|up-regulation of coenzyme Q9 biosynthesis|up-regulation of coenzyme Q biosynthetic process|up regulation of coenzyme Q9 biosynthetic process|up-regulation of ubiquinone biosynthetic process|up regulation of coenzyme Q8 biosynthetic process|positive regulation of ubiquinone formation|upregulation of coenzyme Q8 biosynthetic process|positive regulation of coenzyme Q8 biosynthesis|up-regulation of coenzyme Q9 biosynthetic process|activation of ubiquinone anabolism|upregulation of coenzyme Q10 biosynthesis|activation of ubiquinone biosynthesis|positive regulation of coenzyme Q10 biosynthesis|positive regulation of coenzyme Q biosynthetic process|up regulation of ubiquinone formation owl:Class UBERON:0009526 biolink:NamedThing maxillary process mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005868 biolink:NamedThing maxillary prominence tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012429 biolink:NamedThing hematopoietic tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013164 biolink:NamedThing beta-ureidopropionase deficiency Beta-ureidopropionase deficiency is a very rare pyrimidine metabolism disorder described in fewer than 10 patients to date with an extremely wide clinical picture ranging from asymptomatic cases to neurological (epilepsy, autism) and developmental disorders (urogenital, colorectal). tmpaxzxjjyw_mondo_relaxed.owl UPB1D|Beta-alanine synthase deficiency|BETA-ureidopropionase deficiency|beta-ureidopropionase deficiency OMIM:613161|Orphanet:65287|UMLS:C1291512|MESH:C563210|SCTID:124511000|ICD9:277.6|ICD10:E79.8 owl:Class GO:0030885 biolink:NamedThing regulation of myeloid dendritic cell activation Any process that modulates the frequency or rate of myeloid dendritic cell activation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014682 biolink:NamedThing thyroid cancer, nonmedullary, 5 Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene. tmpaxzxjjyw_mondo_relaxed.owl HABP2 thyroid cancer, nonmedullary|thyroid cancer, nonmedullary, type 5|thyroid cancer, nonmedullary caused by mutation in HABP2|thyroid cancer, nonmedullary, 5|NMTC5 Orphanet:319487|OMIM:616535|UMLS:C4225292 owl:Class HGNC:4798 biolink:NamedThing HABP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:9347 biolink:NamedThing Eutheria tmpaxzxjjyw_mondo_relaxed.owl placentals|Placentalia|eutherian mammals|placental mammals GC_ID:1 ncbi_taxonomy owl:Class CHEBI:16234 biolink:NamedThing hydroxide tmpaxzxjjyw_mondo_relaxed.owl oxidanide|OH-|hydridooxygenate(1-)|OH(-)|hydroxide|HO-|HYDROXIDE ION|Hydroxide ion owl:Class MONDO:0021424 biolink:NamedThing hemangiopericytoma of skin A hemangiopericytoma that involves the zone of skin. tmpaxzxjjyw_mondo_relaxed.owl zone of skin hemangiopericytoma|skin hemangiopericytoma|hemangiopericytoma of the skin NCIT:C4492|SCTID:254796009|UMLS:C0346084 owl:Class MONDO:0014074 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate F Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. tmpaxzxjjyw_mondo_relaxed.owl DI-CMTF|GNB4-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease dominant intermediate type F|autosomal dominant intermediate Charcot-Marie-Tooth disease type F|Charcot-Marie-Tooth disease, dominant Intermediate type F|CMTDIF|Charcot-Marie-Tooth disease, dominant intermediate F OMIM:615185|ICD10:G60.0|UMLS:C3554654|DOID:0110206|GARD:0009206|Orphanet:352670 Not in the OMIM series. owl:Class HGNC:20731 biolink:NamedThing GNB4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7784 biolink:NamedThing NFIA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012060 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 35 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 35|deafness, autosomal recessive 35|autosomal recessive deafness 35|ESRRB autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in ESRRB|autosomal recessive nonsyndromic deafness 35|DFNB35|deafness, autosomal recessive type 35 MESH:C563908|UMLS:C1837857|OMIM:608565|DOID:0110493|ICD10:H90.3 owl:Class HGNC:3473 biolink:NamedThing ESRRB tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003214 biolink:NamedThing mammary gland alveolus tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002003 biolink:NamedThing CD34-positive, GlyA-negative erythroid progenitor cell An erythroid progenitor cell that is CD34-positive and is GlyA-negative. tmpaxzxjjyw_mondo_relaxed.owl FMA:83517 Cell markers associated with human cells. tmeehan 2010-04-26T10:14:30Z cell owl:Class CL:0002005 biolink:NamedThing CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell A megakaryocyte erythroid progenitor cell is CD34-positive, CD38-positive and is IL3-receptor alpha-negative and CD45RA-negative. tmpaxzxjjyw_mondo_relaxed.owl Markers are associated with human cell type. tmeehan 2010-01-13T03:43:10Z cell owl:Class MONDO:0016965 biolink:NamedThing partial duplication of the long arm of chromosome 15 Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures ; high and/or cleft palate (roof of the mouth); scoliosis ; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl Duplication 15q|partial duplication of chromosome 15q|15q duplication|partial trisomy 15q|15q trisomy|partial trisomy of chromosome 15q|chromosome 15q duplication|trisomy 15q|partial trisomy of the long arm of chromosome 15|partial duplication of the long arm of chromosome type 15 Orphanet:262950|UMLS:C0795858|GARD:0005314|MESH:C538040 owl:Class OBO:CHR_9606-chr15q biolink:NamedThing 15q (Human) tmpaxzxjjyw_mondo_relaxed.owl 101991189 19000000 hg38 owl:Class OBO:CHR_9606-chr11q24.1 biolink:NamedThing 11q24.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 124000000 121300000 hg38 owl:Class MONDO:0012549 biolink:NamedThing autosomal recessive ataxia, Beauce type A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia 8|autosomal recessive ataxia Beauce type|cerebellar ataxia, autosomal recessive, type 1|SYNE1-related autosomal recessive cerebellar ataxia|autosomal recessive cerebellar ataxia type 1|ataxia, recessive, of Beauce|spinocerebellar ataxia autosomal recessive 8|spinocerebellar ataxia, autosomal recessive 8|SCAR8|spinocerebellar ataxia, autosomal recessive type 8|recessive ataxia of Beauce|ARCA1 Orphanet:88644|GARD:0012234|OMIM:610743|UMLS:C1853116|UMLS:C3683483|ICD10:G11.2|DOID:0111618 owl:Class HGNC:17089 biolink:NamedThing SYNE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q31.2 biolink:NamedThing 2q31.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 179700000 177100000 hg38 owl:Class HGNC:13394 biolink:NamedThing NPHS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1535326 biolink:NamedThing Candida tmpaxzxjjyw_mondo_relaxed.owl Candida GC_ID:1 ncbi_taxonomy owl:Class HGNC:10994 biolink:NamedThing SLC26A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002027 biolink:NamedThing regulation of heart rate Any process that modulates the frequency or rate of heart contraction. tmpaxzxjjyw_mondo_relaxed.owl regulation of heart contraction rate|regulation of rate of heart contraction|cardiac chronotropy owl:Class MONDO:0015068 biolink:NamedThing neuroendocrine tumor of rectum, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the rectum. tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine tumor of the rectum|rectal neuroendocrine tumor NCIT:C135213|UMLS:CN197361 owl:Class UBERON:0002443 biolink:NamedThing choroidal blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002328 biolink:NamedThing notochord tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013150 biolink:NamedThing future brain vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006238 biolink:NamedThing future brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025397 biolink:NamedThing canine distemper A viral disease caused by canine distemper virus that affects a wide variety of animal families, including domestic and wild species of dogs, coyotes, foxes, pandas, wolves, ferrets, skunks, raccoons, and large cats, as well as pinnipeds, some primates, and a variety of other species. tmpaxzxjjyw_mondo_relaxed.owl canine distemper|Distempers|distemper, canine|canine Distempers|Distempers, canine MESH:D004216 owl:Class NCBITaxon:11232 biolink:NamedThing Canine morbillivirus tmpaxzxjjyw_mondo_relaxed.owl canine distemper virus CDV|Canine distemper virus|CDV GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003723 biolink:NamedThing vestibular nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007228 biolink:NamedThing vestibular nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008187 biolink:NamedThing panic disorder 1 tmpaxzxjjyw_mondo_relaxed.owl panic disorder 1|panic disorder with bladder conditions|panic disorder|PAND1|panic disorder susceptibility locus, chromosome 13Q-related|panic disorder with Joint laxity OMIM:167870 owl:Class HGNC:2228 biolink:NamedThing COMT tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr17q11 biolink:NamedThing 17q11 (Human) tmpaxzxjjyw_mondo_relaxed.owl 33500000 25100000 hg38 owl:Class OBO:CHR_9606-chr17q1 biolink:NamedThing 17q1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 39800000 25100000 hg38 owl:Class HsapDv:0000136 biolink:NamedThing 42-year-old human stage Adult stage that refers to an adult who is over 42 and under 43. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006650 biolink:NamedThing anterior spinal artery syndrome Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with atherosclerosis of the aorta and may result from dissection of an aortic aneurysm or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50) tmpaxzxjjyw_mondo_relaxed.owl anterior spinal artery syndromic disease|syndromic disease of anterior spinal artery UMLS:C0221069|ICD9:433.80|SCTID:2972007|MESH:D020759|DOID:6712|EFO:1000810|MedDRA:10002703 owl:Class HGNC:4329 biolink:NamedThing GLRB tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10896 biolink:NamedThing SKI tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002579 biolink:NamedThing positive regulation of antigen processing and presentation Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation. tmpaxzxjjyw_mondo_relaxed.owl activation of antigen processing and presentation|up regulation of antigen processing and presentation|up-regulation of antigen processing and presentation|stimulation of antigen processing and presentation|upregulation of antigen processing and presentation owl:Class GO:0019882 biolink:NamedThing antigen processing and presentation The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. tmpaxzxjjyw_mondo_relaxed.owl antigen presentation|antigen processing owl:Class UBERON:0009576 biolink:NamedThing medulla oblongata sulcus limitans tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7978 biolink:NamedThing NR3C1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002330 biolink:NamedThing exocrine system tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009566 biolink:NamedThing fertilization The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). tmpaxzxjjyw_mondo_relaxed.owl syngamy owl:Class GO:0015108 biolink:NamedThing chloride transmembrane transporter activity Enables the transfer of chloride ions from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl chloride transporting ATPase activity|ATP-dependent chloride transmembrane transporter activity|chloride ion transmembrane transporter activity|ATPase-coupled chloride transmembrane transporter activity|chloride-transporting ATPase activity|chloride ABC transporter owl:Class UBERON:0003851 biolink:NamedThing diencephalon neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008591 biolink:NamedThing tremor-nystagmus-duodenal ulcer syndrome tmpaxzxjjyw_mondo_relaxed.owl tremor nystagmus duodenal ulcer|Neuhauser-Daly-Magnelli syndrome|Neuhauser Daly Magnelli syndrome|tremor, NYSTAGMUS, and duodenal ulcer GARD:0003948|OMIM:190310|UMLS:C1860860|MESH:C536406|Orphanet:3350 owl:Class GO:0046943 biolink:NamedThing carboxylic acid transmembrane transporter activity Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905039 biolink:NamedThing carboxylic acid transmembrane transport The process in which carboxylic acid is transported across a membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16p11.2 biolink:NamedThing 16p11.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 35300000 28500000 hg38 owl:Class MONDO:0008387 biolink:NamedThing ring dermoid of cornea Ring dermoid of cornea is characterised by annular limbal dermoids (growths with a skin-like structure) with corneal and conjunctival extension. Less than 30 cases have been described. Transmission is autosomal dominant and mutations in the PITX2 gene have been suggested as a potential cause of the condition. tmpaxzxjjyw_mondo_relaxed.owl bilateral, annular limbal dermoids with corneal and conjunctival extension|Ring dermoid syndrome|ring dermoid of cornea|RDC|RING dermoid of cornea Orphanet:91481|GARD:0009696|OMIM:180550|MESH:C535684|SCTID:723499000|ICD10:D31.1|UMLS:C1867155|DOID:0111548 https://rarediseases.info.nih.gov/diseases/9696/ring-dermoid-of-cornea owl:Class MONDO:0008575 biolink:NamedThing nicotine dependence Physical and psychological dependence on nicotine. tmpaxzxjjyw_mondo_relaxed.owl nicotine addiction|smoking habit, susceptibility to|nicotine addiction, susceptibility to|nicotine dependence, susceptibility to|cigarette habituation, susceptibility to|tobacco use disorder|susceptibility to tobacco addiction|tobacco addiction, susceptibility to ICD10:F17|ICD9:305.1|ICD10:F17.20|OMIM:188890|SCTID:56294008|MESH:D014029|EFO:0003768|NCIT:C54203|ICD10:F17.2|DOID:0050742 owl:Class MONDO:0017572 biolink:NamedThing tick-borne encephalitis Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis. tmpaxzxjjyw_mondo_relaxed.owl Western European tick-borne encephalitis|taiga encephalitis|Siberian tick-borne encephalitis|Russian spring-summer encephalitis|central European encephalitis|west-Siberian encephalitis|TBE|Tick-borne viral encephalitis|Far Eastern TBE EFO:1001309|ICD10:A84.9|NCIT:C34579|ICD10:A84.8|DOID:0050175|MESH:D004675|GARD:0005216|ICD10:A84.1|ICD10:A84.0|MedDRA:10043848|Orphanet:297|ICD9:063.2|UMLS:C0014061 https://rarediseases.info.nih.gov/diseases/5216/tick-borne-encephalitis owl:Class HP:0003470 biolink:NamedThing Paralysis Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. tmpaxzxjjyw_mondo_relaxed.owl Paralysis|Inability to move UMLS:C0522224|MSH:D010243|SNOMEDCT_US:44695005 human_phenotype owl:Class CHEBI:13941 biolink:NamedThing carbamate tmpaxzxjjyw_mondo_relaxed.owl Carbamat|Karbamat|carbamic acid, ion(1-)|carbamate ion|carbamate owl:Class CHEBI:28616 biolink:NamedThing carbamic acid A one-carbon compound that is ammonia in which one of the hydrogens is replaced by a carboxy group. Although carbamic acid derivatives are common, carbamic acid itself has never been synthesised. tmpaxzxjjyw_mondo_relaxed.owl Carbamidsaeure|CARBAMIC ACID|carbamic acid|Carbamic acid|Aminoameisensaeure|Aminoformic acid|Carbamate owl:Class UBERON:0003902 biolink:NamedThing retinal neural layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C53637 biolink:NamedThing Malignant Spindle Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003697 biolink:NamedThing non-invasive verrucous carcinoma of the penis tmpaxzxjjyw_mondo_relaxed.owl non-invasive verrucous carcinoma of the penis|non-invasive verrucous carcinoma of penis|penis non-invasive verrucous carcinoma|non-invasive penile verrucous carcinoma DOID:5907|NCIT:C27791|UMLS:C1334984 owl:Class PATO:0002132 biolink:NamedThing neoplastic, non-invasive A disposition inhering in a tumour by virtue of the bearer's disposition not to invade surrounding tissues. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007098 biolink:NamedThing mandibular neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013959 biolink:NamedThing Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones. tmpaxzxjjyw_mondo_relaxed.owl CMT4F|Charcot-Marie-Tooth disease, demyelinating, type 4F|Charcot-Marie-Tooth disease type 4 caused by mutation in PRX|Charcot-Marie-Tooth disease type 4 caused by mutation in Prx|Prx Charcot-Marie-Tooth disease type 4|PRX Charcot-Marie-Tooth disease type 4 DOID:0110193|ICD10:G60.0|UMLS:C3540453|OMIM:614895|GARD:0012441|Orphanet:99952|SCTID:715801001 https://rarediseases.info.nih.gov/diseases/12441/charcot-marie-tooth-disease-type-4f owl:Class MONDO:0000965 biolink:NamedThing liver lipoma A rare benign adipose tissue neoplasm of the liver. tmpaxzxjjyw_mondo_relaxed.owl lipoma of liver|liver lipoma|hepatic lipoma|lipoma of the liver NCIT:C5750|UMLS:C1333970|DOID:10190 owl:Class MONDO:0007434 biolink:NamedThing primary failure of tooth eruption tmpaxzxjjyw_mondo_relaxed.owl primary failure of eruption, nonsyndromic|PFE|unerupted second primary molar|posterior Openbite malocclusion, familial|dental noneruption|primary retention of teeth|failure of tooth eruption, primary MESH:C565114|ICD10:K00.8|DOID:0111341|UMLS:C1852222|Orphanet:412206|OMIM:125350 owl:Class HGNC:9608 biolink:NamedThing PTH1R tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003911 biolink:NamedThing choroid plexus epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:4000115 biolink:NamedThing mineralized bone tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008883 biolink:NamedThing osteoid tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2032 biolink:NamedThing CLDN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014300 biolink:NamedThing proximal myopathy with extrapyramidal signs Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. tmpaxzxjjyw_mondo_relaxed.owl MPXPS|myopathy with extrapyramidal signs DOID:0111335|GARD:0012978|Orphanet:401768|ICD10:G71.3|UMLS:C3810285|OMIM:615673 owl:Class HGNC:1530 biolink:NamedThing MICU1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015423 biolink:NamedThing hilar portion of hepatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010744 biolink:NamedThing sacral vertebra pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014851 biolink:NamedThing chorda tendinea of left ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014108 biolink:NamedThing Fanconi anemia complementation group Q Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene. tmpaxzxjjyw_mondo_relaxed.owl Fanconi anemia caused by mutation in ERCC4|FANCQ|Fanconi anemia, complementation group Q|Fanconi anemia complementation group type Q|Fanconi Anemia, complementation group type Q|ERCC4 Fanconi anemia UMLS:C3808988|DOID:0111093|OMIM:615272 owl:Class MONDO:0023133 biolink:NamedThing Faye-Petersen-Ward-Carey syndrome tmpaxzxjjyw_mondo_relaxed.owl MESH:C537076|UMLS:C2931417 owl:Class MONDO:0009022 biolink:NamedThing corpus callosum, agenesis of A congenital abnormality characterized by the complete absence of the corpus callosum. It may be an isolated abnormality or associated with other central nervous system abnormalities or syndromes. Clinical manifestations vary. In cases of isolated corpus callosum agenesis, symptoms may be absent or minimal. In cases that are associated with other central nervous system abnormalities or syndromes, symptoms include developmental delays, motor coordination difficulties, and vision impairment. tmpaxzxjjyw_mondo_relaxed.owl ACC|agenesis of corpus callosum|corpus callosum, agenesis of|agenesis of the corpus callosum|corpus callosum agenesis|isolated corpus callosum agenesis SCTID:5102002|NCIT:C98905|GARD:0001535|MESH:D061085|OMIM:217990 owl:Class MONDO:0000751 biolink:NamedThing cervical polyp A polyp that arises from the surface of the cervix. tmpaxzxjjyw_mondo_relaxed.owl cervical polyp (disease)|adenomatous polyp of the cervix|uterine cervix adenomatous polyp|polyp of the cervix|polyp of the cervix uteri|uterine cervix polyp|polyp of the uterine cervix|cervix adenomatous polyp|cervical polyp|polyp of cervix|cervix polyp|cervix uteri adenomatous polyp|polyp of cervix uteri|polyp of uterine cervix|adenomatous polyp of the uterine cervix|adenomatous polyp of cervix|cervix uteri polyp|adenomatous polyp of uterine cervix cervical polyp (disease) UMLS:C0347493|DOID:0060325|NCIT:C2939|ICD10:D26|ICD9:219|HP:0030159|SCTID:65576009|UMLS:C0007855|ICD10:D26.9 owl:Class UBERON:0012247 biolink:NamedThing cervical gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012248 biolink:NamedThing cervical mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002358 biolink:NamedThing peritoneum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011151 biolink:NamedThing exudative vitreoretinopathy 4 tmpaxzxjjyw_mondo_relaxed.owl exudative vitreoretinopathy type 4|EVR4|exudative vitreoretinopathy 4 MESH:C566619|UMLS:C1866176|DOID:0111411|Orphanet:891|OMIM:601813 owl:Class HGNC:1421 biolink:NamedThing SLC25A20 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:28976 biolink:NamedThing carbonic acid tmpaxzxjjyw_mondo_relaxed.owl Dihydrogen carbonate|dihydroxidooxidocarbon|Carbonic acid|carbonic acid|Koehlensaeure|[CO(OH)2]|H2CO3 owl:Class MONDO:0005740 biolink:NamedThing Echovirus infectious disease Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses. tmpaxzxjjyw_mondo_relaxed.owl infection, echo Virus|echo Virus infection|infections, echo Virus|infections, Echovirus|echo Virus infections|Echovirus disease or disorder|Echovirus caused disease or disorder|Echovirus infection|infection, Echovirus EFO:0007247|MESH:D004457|SCTID:271532008|UMLS:C0013533 owl:Class NCBITaxon:33758 biolink:NamedThing Echovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0017145 biolink:NamedThing stem cell division The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. tmpaxzxjjyw_mondo_relaxed.owl stem cell renewal owl:Class ENVO:09200011 biolink:NamedThing pressure of air The pressure of some air. tmpaxzxjjyw_mondo_relaxed.owl air pressure owl:Class UBERON:0001644 biolink:NamedThing trochlear nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10669 biolink:NamedThing TSHZ1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010036 biolink:NamedThing congenital secretory sodium diarrhea 3 Any secretory diarrhea in which the cause of the disease is a mutation in the SPINT2 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital secretory sodium diarrhea 3 with or without other congenital anomalies|congenital secretory sodium diarrhea type 3|congenital secretory sodium diarrhea 3 syndromic|DIAR3|SPINT2 secretory diarrhea|diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies|sodium diarrhea, congenital|secretory diarrhea caused by mutation in SPINT2|diarrhea 3, secretory sodium, congenital, syndromic DOID:0060781|OMIM:270420|Orphanet:103908|ICD10:P78.3 owl:Class HGNC:11247 biolink:NamedThing SPINT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001449 biolink:NamedThing lymphocytic choriomeningitis A form of meningitis caused by lymphocytic choriomeningitis virus. mice and other rodents serve as the natural hosts, and infection in humans usually occurs through inhalation or ingestion of infectious particles. Clinical manifestations include an influenza-like syndrome followed by stiff neck, alterations of mentation, ataxia, and incontinence. Maternal infections may result in fetal malformations and injury, including neonatal hydrocephalus, aqueductal stenosis, chorioretinitis, and microcephaly. (From Joynt, Clinical Neurology, 1996, Ch26, pp1-3) tmpaxzxjjyw_mondo_relaxed.owl LCM|lymphocytic meningitis|lymphocytic choriomeningitis mammarenavirus infectious meningitis|lymphocytic choriomeningitis virus encephalomyelitis|lymphocytic choriomeningitis mammarenavirus caused infectious meningitis|lymphocytic meningoencephalitis ICD9:049.0|MESH:D008216|ICD10:A87.2|DOID:12155|UMLS:C0024266 owl:Class NCBITaxon:11623 biolink:NamedThing Lymphocytic choriomeningitis mammarenavirus tmpaxzxjjyw_mondo_relaxed.owl Lymphocytic choriomeningitis virus|LCMV|lymphocytic choriomeningitis virus LCMV GC_ID:1 NCBITaxon:12748 ncbi_taxonomy owl:Class MONDO:0012509 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 1 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKAR1A gene. tmpaxzxjjyw_mondo_relaxed.owl PRKAR1A primary pigmented nodular adrenocortical disease|pigmented micronodular adrenocortical disease, primary, 1|pigmented nodular adrenocortical disease, primary, 1|primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A|Cushing syndrome, adrenal, due to PPNAD1|PPNAD1|pigmented nodular adrenocortical disease, primary, type 1|adrenocortical nodular dysplasia, primary OMIM:610489|Orphanet:189439|MESH:C566469 owl:Class HGNC:9388 biolink:NamedThing PRKAR1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000013 biolink:NamedThing fibroblast of skin of abdomen Any skin fibroblast that is part of a skin of abdomen. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-04T15:18:16Z cell owl:Class UBERON:0001416 biolink:NamedThing skin of abdomen tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002804 biolink:NamedThing left limbic lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002812 biolink:NamedThing left cerebral hemisphere tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012728 biolink:NamedThing Brugada syndrome 2 Any Brugada syndrome in which the cause of the disease is a mutation in the GPD1L gene. tmpaxzxjjyw_mondo_relaxed.owl GPD1L Brugada syndrome|Brugada syndrome 2|Brugada syndrome type 2|BRGDA2|Brugada syndrome caused by mutation in GPD1L OMIM:611777|UMLS:C2673193|DOID:0110219|MESH:C567087|ICD10:I49.8|Orphanet:130 owl:Class MONDO:0014319 biolink:NamedThing renal hypodysplasia/aplasia 2 Any renal agenesis in which the cause of the disease is a mutation in the FGF20 gene. tmpaxzxjjyw_mondo_relaxed.owl renal agenesis (disease) caused by mutation in FGF20|RHDA2|renal hypodysplasia/aplasia 2|FGF20 renal agenesis (disease)|renal hypodysplasia/aplasia type 2 OMIM:615721|UMLS:C3810359|Orphanet:411709 owl:Class HGNC:3677 biolink:NamedThing FGF20 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004695 biolink:NamedThing liver lymphoma A rare lymphoma that arises from the liver and the bulk of the tumor is located in the liver. The most frequent types of lymphoma that arise from the liver are diffuse large B-cell lymphoma and mucosa-associated lymphoid tissue lymphoma. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of the liver|lymphoma of liver|primary liver lymphoma|hepatic lymphoma|primary hepatic lymphoma|liver lymphoma DOID:901|UMLS:C1112746|NCIT:C4949 owl:Class GO:0030198 biolink:NamedThing extracellular matrix organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. tmpaxzxjjyw_mondo_relaxed.owl extracellular matrix organisation|extracellular matrix organization and biogenesis owl:Class MONDO:0001110 biolink:NamedThing chronic pyelonephritis Persistent pyelonephritis. tmpaxzxjjyw_mondo_relaxed.owl pyelonephritis, chronic NCIT:C123216|SCTID:63302006|ICD10:N11.9|ICD10:N11|DOID:1076|ICD9:590.0|UMLS:C0085697 owl:Class UBERON:0007280 biolink:NamedThing presumptive endocardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003081 biolink:NamedThing lateral plate mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q biolink:NamedThing 2q (Human) tmpaxzxjjyw_mondo_relaxed.owl 242193529 93900000 hg38 owl:Class UBERON:0004862 biolink:NamedThing left lung alveolus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017861 biolink:NamedThing ethylene glycol poisoning Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:31826|ICD10:T52.8|SCTID:426692001|ICD9:982.8 owl:Class CHEBI:30742 biolink:NamedThing ethylene glycol A 1,2-glycol compound produced via reaction of ethylene oxide with water. tmpaxzxjjyw_mondo_relaxed.owl Ethylene glycol|ethylene glycol|1,2-Dihydroxyethane|Monoethylene glycol|1,2-Ethanediol|Glycol|1,2-ETHANEDIOL|HO-CH2-CH2-OH|2-Hydroxyethanol|ethane-1,2-diol|Ethanediol owl:Class MONDO:0014296 biolink:NamedThing Warburg micro syndrome 4 Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene. tmpaxzxjjyw_mondo_relaxed.owl WARBURG micro syndrome 4|Warburg micro syndrome caused by mutation in TBC1D20|Warburg micro syndrome 4|micro syndrome 4|TBC1D20 Warburg micro syndrome|Warburg micro syndrome type 4|WARBM4 DOID:0110719|OMIM:615663|UMLS:C3810265|Orphanet:2510|ICD10:Q87.0 owl:Class HGNC:16133 biolink:NamedThing TBC1D20 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013454 biolink:NamedThing Leber congenital amaurosis 11 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene. tmpaxzxjjyw_mondo_relaxed.owl Leber congenital amaurosis type 11|amaurosis congenita of Leber, type 11|LCA11|Leber congenital amaurosis 11|Leber congenital amaurosis caused by mutation in IMPDH1|IMPDH1 Leber congenital amaurosis HGNC:6052|DOID:0110216|ICD10:H35.5|UMLS:C1840284|MESH:C564140|OMIM:613837|GARD:0010488 https://rarediseases.info.nih.gov/diseases/10488/leber-congenital-amaurosis-11 owl:Class HGNC:6052 biolink:NamedThing IMPDH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003503 biolink:NamedThing fallopian tube squamous cell carcinoma A rare squamous cell carcinoma that arises from the fallopian tube. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of the fallopian tube|squamous cell carcinoma of fallopian tube|fallopian tube squamous cell carcinoma|fallopian tube squamous cell cancer UMLS:C1333596|NCIT:C6282|DOID:5540 owl:Class MONDO:0011429 biolink:NamedThing juvenile idiopathic arthritis Juvenile idiopathic arthritis (JIA) is the term used to describe a group of inflammatory articular disorders of unknown cause that begin before the age of 16 and last over 6 weeks. The term juvenile idiopathic arthritis was chosen to signify the absence of any known mechanism underlying the disorder and to highlight the necessity of excluding other types of arthritis occurring in well defined diseases (in particular arthritis occurring in association with infectious, inflammatory and haematooncologic diseases). tmpaxzxjjyw_mondo_relaxed.owl Juvenile idiopathic arthritis|acute juvenile rheumatoid arthritis|juvenile chronic arthritis|monarticular juvenile rheumatoid arthritis|rheumatoid arthritis, systemic juvenile|pauciarticular juvenile arthritis|systemic juvenile rheumatoid arthritis|juvenile chronic polyarthritis|JIA|juvenile rheumatoid arthritis|pauciarticular onset juvenile chronic arthritis|juvenile idiopathic arthritis MedDRA:10059177|MESH:D001171|ICD10:M08.1|Orphanet:92|DOID:676|ICD10:M08.40|SCTID:410502007|OMIM:604302|ICD10:M08.2|ICD9:714.3|ICD10:M08.9|Orphanet:85414|ICD9:714.33|ICD9:714.32|NCIT:C114357|ICD10:M08.8|ICD9:714.31|ICD10:M08.3|ICD10:M08.4|ICD10:M08.0 owl:Class HP:0000478 biolink:NamedThing Abnormality of the eye Any abnormality of the eye, including location, spacing, and intraocular abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Abnormal eye|Abnormality of the eye|Eye disease MSH:D005124|SNOMEDCT_US:371405004|MSH:D005128|SNOMEDCT_US:371409005|SNOMEDCT_US:19416009|UMLS:C0015397|UMLS:C0015393 human_phenotype owl:Class UBERON:0006567 biolink:NamedThing right ventricle myocardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006563 biolink:NamedThing tunica media of pulmonary trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003925 biolink:NamedThing ethmoid sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. tmpaxzxjjyw_mondo_relaxed.owl inverted papilloma of ethmoid sinus|inverted papilloma of the ethmoid sinus|ethmoid sinus inverted papilloma DOID:6562|NCIT:C6843|UMLS:C1333474 owl:Class MONDO:0006260 biolink:NamedThing kidney medullary carcinoma A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis. tmpaxzxjjyw_mondo_relaxed.owl renal medullary carcinoma|carcinoma of renal medulla|kidney medullary carcinoma|renal medulla carcinoma EFO:1000314|MedDRA:10064886|ICD10:C64|GARD:0013175|UMLS:CN203938|NCIT:C7572|ONCOTREE:MRC|Orphanet:319319 MONDO:0017888 owl:Class GO:0022618 biolink:NamedThing ribonucleoprotein complex assembly The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. tmpaxzxjjyw_mondo_relaxed.owl RNP complex assembly|RNA-protein complex assembly|protein-RNA complex assembly owl:Class GO:0022613 biolink:NamedThing ribonucleoprotein complex biogenesis A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. tmpaxzxjjyw_mondo_relaxed.owl ribonucleoprotein complex biogenesis and assembly|RNA-protein complex biogenesis owl:Class HGNC:6220 biolink:NamedThing KCNA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011581 biolink:NamedThing arrhythmogenic cardiomyopathy with woolly hair and keratoderma A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features. tmpaxzxjjyw_mondo_relaxed.owl keratoderma with woolly hair type II|woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair|Carvajal syndrome|dilated cardiomyopathy with woolly hair and keratoderma|arrhythmogenic cardiomyopathy with woolly hair and keratoderma|cardiomyopathy dilated with woolly hair and keratoderma|KWWH type II|cardiomyopathy, dilated, with woolly hair and keratoderma|woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome|DCWHK|wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome|epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy|wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome|wooly hair - palmoplantar keratoderma - dilated cardiomyopathy GARD:0005595|DOID:0090128|OMIM:605676|OMIM:615821|UMLS:C1854063|SCTID:719835006|Orphanet:65282|MESH:C535581 https://rarediseases.info.nih.gov/diseases/5595/cardiomyopathy-dilated-with-woolly-hair-and-keratoderma|https://github.com/monarch-initiative/mondo/issues/1120 owl:Class HGNC:3052 biolink:NamedThing DSP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100094 biolink:NamedThing cannabinoid hyperemesis syndrome A syndrome of cyclic vomiting associated with cannabis use. Fourteen diagnostic characteristics have been identified, and the frequency of major characteristics is as follows: history of regular cannabis for any duration of time (100%), cyclic nausea and vomiting (100%), resolution of symptoms after stopping cannabis (96.8%), compulsive hot baths with symptom relief (92.3%), male predominance (72.9%), abdominal pain (85.1%), and at least weekly cannabis use (97.4%). Supportive care with intravenous fluids, dopamine antagonists, topical capsaicin cream, and avoidance of narcotic medications has shown some benefit in the acute setting. Cannabis cessation appears to be the best treatment. tmpaxzxjjyw_mondo_relaxed.owl CHS http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0005974 biolink:NamedThing strongyloidiasis An infection that is caused by nematodes of the genus Strongyloides, most commonly Strongyloides stercoralis, which is a soil-transmitted helminth, and which is characterized by a variety of gastrointestinal, dermatologic, and, occasionally, pulmonary manifestations. The worm's autoinfective life cycle can lead to hyper-infection and life-threatening dissemination in immunocompromised hosts decades after initial infection. tmpaxzxjjyw_mondo_relaxed.owl Anguillulosis|Anguilluliasis|infection by Strongyloides|disseminated strongyloidiasis ICD9:127.2|ICD10:B78.9|EFO:0007501|UMLS:C0038463|Orphanet:76|MedDRA:10042254|ICD10:B78.0|ICD10:B78|ICD10:B78.7|SCTID:187176005|MESH:D013322|UMLS:C0348996|ICD10:B78.1|UMLS:C0085810|NCIT:C128398|DOID:10955|GARD:0008195 owl:Class MONDO:0004350 biolink:NamedThing pediatric extraocular retinoblastoma Retinoblastoma during childhood that has spread beyond the eye. tmpaxzxjjyw_mondo_relaxed.owl childhood metastatic retinoblastoma|extraocular retinoblastoma of childhood|pediatric extraocular retinoblastoma|childhood extraocular retinoblastoma|extraocular retinoblastoma NCIT:C9048|DOID:7747|UMLS:C1321870 owl:Class MONDO:0014767 biolink:NamedThing Seckel syndrome 9 Any Seckel syndrome in which the cause of the disease is a mutation in the TRAIP gene. tmpaxzxjjyw_mondo_relaxed.owl TRAIP Seckel syndrome|SCKL9|Seckel syndrome type 9|Seckel syndrome 9|Seckel syndrome caused by mutation in TRAIP OMIM:616777|DOID:0070005|UMLS:C4225212 owl:Class HGNC:30764 biolink:NamedThing TRAIP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019112 biolink:NamedThing cancer-associated retinopathy Cancer associated retinopathy (CAR) is a paraneoplastic disease of the eye associated with the presence of extraocular malignancy and circulating autoantibodies against retinal proteins. tmpaxzxjjyw_mondo_relaxed.owl CAR syndrome|paraneoplastic retinopathy Orphanet:71505|ICD9:362.10|MESH:D059545|SCTID:404663008 owl:Class MONDO:0009529 biolink:NamedThing pyruvate dehydrogenase E3 deficiency Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease. tmpaxzxjjyw_mondo_relaxed.owl Dld deficiency|dihydrolipoamide dehydrogenase deficiency|E3 deficiency|pyruvate dehydrogenase E3 deficiency|DLD deficiency|E3-deficient maple syrup urine disease|maple syrup urine disease, type III|lipoamide dehydrogenase deficiency, lactic acidosis due to|maple syrup urine disease, type 3|DLDD ICD10:E74.4|Orphanet:765|Orphanet:2394|OMIM:246900|SCTID:29914000|GARD:0003263|UMLS:C0268193|UMLS:CN043137 owl:Class GO:0098661 biolink:NamedThing inorganic anion transmembrane transport The process in which an inorganic anion is transported across a membrane. tmpaxzxjjyw_mondo_relaxed.owl inorganic anion membrane transport|transmembrane inorganic anion transport owl:Class MONDO:0044621 biolink:NamedThing 16p12.1p12.3 triplication syndrome 16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. tmpaxzxjjyw_mondo_relaxed.owl tetrasomy 16p12.1p12.3|tetrasomy 16p12.1-p12.3|trip(16)(p12.1p12.3) Orphanet:485405 owl:Class OBO:CHR_9606-chr16p12.1-p12.3 biolink:NamedThing 16p12.1-p12.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class UBERON:0000109 biolink:NamedThing gastrula stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. tmpaxzxjjyw_mondo_relaxed.owl blastocystis trilaminaris stage|trilaminar stage|trilaminar blastoderm stage|trilaminar germ stage|trilaminar blastocyst stage|trilaminar disk stage owl:Class UBERON:0001351 biolink:NamedThing lacrimal sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004571 biolink:NamedThing systemic arterial system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006682 biolink:NamedThing hypoglossal canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000079 biolink:NamedThing male reproductive system tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1739 biolink:NamedThing CDC45 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007289 biolink:NamedThing spermatid nucleus differentiation The specialization of the spermatid nucleus during the development of a spermatid into a mature male gamete competent for fertilization. tmpaxzxjjyw_mondo_relaxed.owl spermatid nuclear differentiation owl:Class GO:0044381 biolink:NamedThing glucose import in response to insulin stimulus The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. tmpaxzxjjyw_mondo_relaxed.owl cellular glucose import in response to insulin stimulus owl:Class MONDO:0004466 biolink:NamedThing neuronitis tmpaxzxjjyw_mondo_relaxed.owl neuroinflammation DOID:8117|NCIT:C34847|UMLS:C0027881 Editor note: check this owl:Class MONDO:0016593 biolink:NamedThing acquired ataxia A type of ataxia that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired ataxia SCTID:722968003|Orphanet:247242 owl:Class CL:0002241 biolink:NamedThing pulmonary interstitial fibroblast A fibroblasts found in interstitial spaces in the pulmonary tract. Greater numbers of these cells are found in idiopathic pulmonary fibrosis. tmpaxzxjjyw_mondo_relaxed.owl pulmonary septal cell|pulmonary myofibroblast FMA:84467 tmeehan 2010-09-07T02:29:38Z cell owl:Class HP:0012735 biolink:NamedThing Cough A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. tmpaxzxjjyw_mondo_relaxed.owl Coughing|Cough SNOMEDCT_US:263731006|SNOMEDCT_US:49727002|UMLS:C0010200|MSH:D003371|SNOMEDCT_US:272039006 The European Respiratory Society Task Force recommended two possible definitions of cough: (1) A three-phase expulsive motor act characterized by an inspiratory effort (inspiratory phase) followed by a forced expiratory effort against a closed glottis (compressive phase) and then by opening of the glottis and rapid expiratory airflow (expulsive phase);and (2) A forced expiratory manoeuvre, usually against a closed glottis and associated with a characteristic sound. The term Cough or any of its more specific descendents can be modified by the terms Acute (HP:0011009), Subacute (HP:0011011), and Chronic (HP:0011010). In adults, an acute cough lasts less than 3 weeks, a subacute cough from 3 to 8 weeks, and a chronic cough longer than 8 weeks. In children aged less than 15 years a chronic cough is defined as a daily cough lasting for over 4 weeks. peter 2014-03-23T03:19:50Z human_phenotype owl:Class GO:1901190 biolink:NamedThing regulation of formation of translation initiation ternary complex Any process that modulates the frequency, rate or extent of formation of translation initiation ternary complex. tmpaxzxjjyw_mondo_relaxed.owl regulation of translation initiation ternary complex assembly owl:Class GO:0001677 biolink:NamedThing formation of translation initiation ternary complex Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). tmpaxzxjjyw_mondo_relaxed.owl translation initiation ternary complex assembly owl:Class CL:0000636 biolink:NamedThing Mueller cell Astrocyte-like radial glial cell that extends vertically throughout the retina, with the nucleus are usually in the middle of the inner nuclear layer. tmpaxzxjjyw_mondo_relaxed.owl Müller cell|Muller glia BTO:0003064 cell owl:Class UBERON:0006242 biolink:NamedThing gall bladder primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1346 biolink:NamedThing C7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010977 biolink:NamedThing negative regulation of neuron projection development Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpaxzxjjyw_mondo_relaxed.owl growth cone collapse|negative regulation of neurite development|negative regulation of neurite formation|negative regulation of neurite biosynthesis|negative regulation of neurite growth owl:Class MONDO:0014596 biolink:NamedThing lissencephaly 7 with cerebellar hypoplasia tmpaxzxjjyw_mondo_relaxed.owl lissencephaly 7 with cerebellar hypoplasia|LIS7 UMLS:C4225359|OMIM:616342 owl:Class HGNC:1774 biolink:NamedThing CDK5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003033 biolink:NamedThing prostate angiosarcoma A malignant vascular neoplasm arising from the prostate. tmpaxzxjjyw_mondo_relaxed.owl prostatic angiosarcoma|angiosarcoma (disease) of prostate gland|prostate hemangiosarcoma|prostate angiosarcoma|hemangiosarcoma of prostate|angiosarcoma of prostate|angiosarcoma of the prostate|prostate gland angiosarcoma (disease)|prostatic hemangiosarcoma|hemangiosarcoma of the prostate NCIT:C5528|DOID:4524|UMLS:C1335504 owl:Class UBERON:0000173 biolink:NamedThing amniotic fluid tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010442 biolink:NamedThing Polydactyly A congenital anomaly characterized by the presence of supernumerary fingers or toes. tmpaxzxjjyw_mondo_relaxed.owl More than five fingers or toes on hands or feet SNOMEDCT_US:367506006|Fyler:4103|MSH:D017689|UMLS:C0152427 doelkens 2009-07-29T01:39:27Z HP:0006123|HP:0006046|HP:0006034|HP:0009605 human_phenotype owl:Class MONDO:0018217 biolink:NamedThing Koolen-de Vries syndrome due to a point mutation tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204741|Orphanet:363965|ICD10:Q93.5 owl:Class MONDO:0005339 biolink:NamedThing androgenetic alopecia tmpaxzxjjyw_mondo_relaxed.owl alopecia androgenetica, male pattern baldness|androgenic alopecia|male pattern baldness|androgenetic alopecia OMIM:612421|EFO:0004191|OMIM:109200|SCTID:87872006|GARD:0009269|OMIM:300710|ICD9:704.09|DOID:0050801 owl:Class GO:0030521 biolink:NamedThing androgen receptor signaling pathway Any series of molecular signals generated as a consequence of an androgen binding to its receptor. tmpaxzxjjyw_mondo_relaxed.owl androgen receptor signalling pathway owl:Class MONDO:0000974 biolink:NamedThing axillary lipoma A benign adipose tissue neoplasm of the axilla. tmpaxzxjjyw_mondo_relaxed.owl lipoma of axilla|axilla lipoma|axillary lipoma SCTID:188993006|DOID:10205|NCIT:C35419|ICD9:214.8|UMLS:C0347429 owl:Class MONDO:0020653 biolink:NamedThing vaginal adenocarcinoma An adenocarcinoma arising from the vagina. Morphologic variants include the clear cell, endometrioid, mesonephric, and mucinous adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl vagina adenocarcinoma|adenocarcinoma of vagina|vaginal adenocarcinoma|adenocarcinoma of the vagina NCIT:C7981|ONCOTREE:VA owl:Class UBERON:0005222 biolink:NamedThing liver left lobe parenchyma tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011674 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate B Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, type 2M|CMTDIB|DNM2-related intermediate Charcot-Marie-Tooth neuropathy|Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia|Charcot-Marie-Tooth neuropathy dominant intermediate B|Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia|Charcot-Marie-Tooth neuropathy, dominant Intermediate B|Di-CMTB|DNM2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy, axonal, type 2M|autosomal dominant intermediate Charcot-Marie-Tooth disease type B|Charcot-Marie-Tooth disease caused by mutation in DNM2|CMTDI1|DI-CMTB|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M|Charcot-Marie-Tooth disease, dominant Intermediate type B|Charcot-Marie-Tooth disease dominant intermediate type B|Charcot-Marie-Tooth disease, dominant intermediate B|Cmtdi1 ICD10:G60.0|GARD:0012438|UMLS:CN197338|SCTID:765745007|Orphanet:228179|OMIM:606482|Orphanet:100044|DOID:0110197 owl:Class HGNC:2974 biolink:NamedThing DNM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007389 biolink:NamedThing paired limb/fin cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002308 biolink:NamedThing epithelial cell of skin gland An epithelial cell of a skin gland. tmpaxzxjjyw_mondo_relaxed.owl epithelial cell of gland of skin FMA:70657 tmeehan 2010-09-14T12:00:07Z cell owl:Class UBERON:0002419 biolink:NamedThing skin gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000913 biolink:NamedThing interstitial fluid tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001445 biolink:NamedThing skeleton of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000286 biolink:NamedThing Epstein-Barr virus hepatitis A viral hepatitis that results in inflammation, located in liver, has material basis in Human herpesvirus 4 and has symptom headache, has symptom fatigue, has symptom fever, has symptom abdominal pain, has symptom nausea, and has symptom jaundice. tmpaxzxjjyw_mondo_relaxed.owl SCTID:302919001|UMLS:C0554114|DOID:0050204 owl:Class MONDO:0012693 biolink:NamedThing glycogen storage disease due to muscle and heart glycogen synthase deficiency A glycogen storage disease characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. tmpaxzxjjyw_mondo_relaxed.owl glycogenosis due to muscle and heart glycogen synthase deficiency|GSD 0B|glycogen storage disease type 0, muscle|GSD0B|heart glycogen storage disease due to glycogen synthase deficiency|glycogen storage disease type 0b|GSD due to muscle and heart glycogen synthase deficiency|glycogen storage disease 0, muscle|GSD type 0b|glycogen storage disease due to glycogen synthase deficiency of heart|muscle glycogen storage disease 0|glycogenosis type 0b|muscle glycogen synthase deficiency Orphanet:137625|OMIM:611556|GARD:0010760|UMLS:C1969054|SCTID:725027004|ICD10:E74.0|MESH:C566917 owl:Class HGNC:4706 biolink:NamedThing GYS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905084 biolink:NamedThing positive regulation of mitochondrial translational elongation Any process that activates or increases the frequency, rate or extent of mitochondrial translational elongation. tmpaxzxjjyw_mondo_relaxed.owl up regulation of mitochondrial translation elongation|up-regulation of mitochondrial translational elongation|up regulation of mitochondrial translational elongation|upregulation of mitochondrial translational elongation|up-regulation of mitochondrial translation elongation|positive regulation of mitochondrial translation elongation|upregulation of mitochondrial translation elongation|activation of mitochondrial translation elongation|activation of mitochondrial translational elongation owl:Class GO:0070125 biolink:NamedThing mitochondrial translational elongation The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial translation elongation owl:Class HGNC:24537 biolink:NamedThing CHMP2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016445 biolink:NamedThing somatic diversification of immunoglobulins The somatic process that results in the generation of sequence diversity of immunoglobulins. tmpaxzxjjyw_mondo_relaxed.owl somatic diversification of antibodies owl:Class MONDO:0011570 biolink:NamedThing Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease type 2B2|Charcot-Marie-Tooth disease, neuronal, type 2B2|Charcot-Marie-Tooth disease neuronal type 2B2|CMT 2B2|Charcot Marie Tooth disease type 2B2|Charcot-Marie-Tooth disease, axonal, type 2B2|autosomal recessive axonal CMT4C3|CMT2B2|ARCMT2B|AR-CMT2B2|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2|Arcmt2B|MED25 Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy type 2B2|Charcot-Marie-Tooth disease type 2 caused by mutation in MED25|Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2|Charcot-Marie-Tooth neuropathy, type 2B2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2 SCTID:719981005|ICD10:G60.0|GARD:0001249|OMIM:605589|DOID:0110179|MESH:C537991|UMLS:C1854150|Orphanet:101101 https://rarediseases.info.nih.gov/diseases/1249/charcot-marie-tooth-disease-type-2b2 owl:Class HGNC:28845 biolink:NamedThing MED25 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000819 biolink:NamedThing B-1 B cell A B cell of distinct lineage and surface marker expression. B-1 B cells are thought to be the primary source of natural IgM immunoglobulin, that is, IgM produced in large quantities without prior antigenic stimulation and generally reactive against various microorganisms, as well as the source of T-independent IgA immunoglobulin in the mucosal areas. These cells are CD43-positive. tmpaxzxjjyw_mondo_relaxed.owl B1 B cell|B1 B-cell|B-1 B-cell|B1 cell|B1 B-lymphocyte|B-1 B lymphocyte|B1 B lymphocyte|B-1 B-lymphocyte|B-1 cell There are small numbers of B-1 cells found in the lymph nodes and spleen, while larger numbers can be found in the peritoneal and pleural cavities. B-1 B cells are reportedly CD11b-positive, CD20-positive, CD21-positive, CD27-positive, CD44-positive, CD45RB-positive, CD48-positive, CD70-negative, CD150-positive, CD244-negative, CD352-positive, sIgM-positive, and sIgD-low. cell owl:Class MONDO:0019245 biolink:NamedThing lysosomal lipid storage disorder An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. tmpaxzxjjyw_mondo_relaxed.owl inborn error of lipid storage|inborn lipid storage disorder|lipid storage disease|lipidoses|lipidosis|lipoid storage disease|lipoid storage disorder|lipoid storage diseas|lipoidoses|rare inborn error of lipid storage|lipoidosis UMLS:CN205834|ICD10:E75.5|ICD9:272.8|Orphanet:79204|SCTID:10741005|MESH:D008064|DOID:9455|ICD9:272.7|ICD10:E75.6 owl:Class GO:0016042 biolink:NamedThing lipid catabolic process The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. tmpaxzxjjyw_mondo_relaxed.owl multicellular organismal lipid catabolic process|lipolysis|lipid breakdown|lipid degradation|multicellular organism lipid catabolic process|lipid catabolism owl:Class MONDO:0020854 biolink:NamedThing Liddle syndrome 2 Any Liddle syndrome in which the cause of the disease is a mutation in the SCNN1G gene. tmpaxzxjjyw_mondo_relaxed.owl SCNN1G Liddle syndrome|Liddle syndrome caused by mutation in SCNN1G|Liddle syndrome 2|LIDLS2 OMIM:618114 owl:Class HGNC:10602 biolink:NamedThing SCNN1G tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000439 biolink:NamedThing exposure to formaldehyde An exposure to formaldehyde. tmpaxzxjjyw_mondo_relaxed.owl exposure to formaldehyde owl:Class CHEBI:16842 biolink:NamedThing formaldehyde An aldehyde resulting from the formal oxidation of methanol. tmpaxzxjjyw_mondo_relaxed.owl Formaldehyde|Oxomethane|Formalin|FORMALDEHYDE|Methylene oxide|FORMALIN|Methanal|Oxomethylene|formaldehyde|Formaldehyd owl:Class GO:0005635 biolink:NamedThing nuclear envelope The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001881 biolink:NamedThing toxic shock syndrome A rare acute life-threatening systemic bacterial noncontagious illness caused by exotoxins from bacteria of either the Streptococcus pyogenes or Staphylococcus aureus type. It is characterized by high fever, hypotension, rash, multi-organ dysfunction, and cutaneous desquamation during the early convalescent period. The toxins affect the host immune system, causing an exuberant and pathological host inflammatory response. Laboratory findings include leukocytosis, elevated prothrombin time, hypoalbuminemia, hypocalcemia, and pyuria. tmpaxzxjjyw_mondo_relaxed.owl TSS|bacterial TSS|toxic shock|toxic shock syndrome|syndrome (TSS), toxic shock|staphylococcal toxic shock syndrome|TSS, toxic shock syndrome|bacterial toxic-shock syndrome|toxic shock syndrome, (TSS)|shock syndrome (TSS), toxic UMLS:C0600327|ICD10:A48.3|DOID:14115|Orphanet:36234|UMLS:CN204669|GARD:0009560|MESH:D012772|NCIT:C35498|SCTID:18504008|ICD9:040.82 owl:Class HP:0002615 biolink:NamedThing Hypotension Low Blood Pressure, vascular hypotension. tmpaxzxjjyw_mondo_relaxed.owl Arterial hypotension|Low blood pressure MSH:D007022|UMLS:C0020649|SNOMEDCT_US:45007003 HP:0006701|HP:0005127 human_phenotype owl:Class MONDO:0011216 biolink:NamedThing hemochromatosis type 2A Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene. tmpaxzxjjyw_mondo_relaxed.owl HFE2A|hemochromatosis, juvenile|hemochromatosis type 2 caused by mutation in HJV|hemochromatosis, type 2|hemochromatosis, type 2A|hemochromatosis type 2A|HJV hemochromatosis type 2 Orphanet:79230|DOID:0111027|OMIM:602390 owl:Class UBERON:0005145 biolink:NamedThing metanephric comma-shaped body tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002204 biolink:NamedThing musculoskeletal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014695 biolink:NamedThing glioma susceptibility 9 Any malignant glioma in which the cause of the disease is a mutation in the POT1 gene. tmpaxzxjjyw_mondo_relaxed.owl malignant glioma caused by mutation in Pot1|malignant glioma caused by mutation in POT1|GLM9|Pot1 malignant glioma|glioma susceptibility 9|POT1 malignant glioma|glioma susceptibility type 9 Orphanet:251627|Orphanet:251630|OMIM:616568 owl:Class HGNC:17284 biolink:NamedThing POT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020728 biolink:NamedThing hypouricemia, renal 1 tmpaxzxjjyw_mondo_relaxed.owl Dalmatian hypouricemia|RHUC1|hypouricemia, renal, 1|hypouricemia, renal, type 1|renal hypouricemia UMLS:C0473219|OMIM:220150|Orphanet:94088 owl:Class OBO:CP_0000037 biolink:NamedThing increased nucleus size A nucleus size quality which is relatively high compared to the amount of cytoplasm present in the same cell. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2009-12-23T10:53:24Z cell owl:Class PATO:0000586 biolink:NamedThing increased size A size quality which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl big|large|expanded|enlarged|great owl:Class MONDO:0100035 biolink:NamedThing structural epilepsy Structural epilepsies are conceptualized as having a distinct structural brain abnormality that has been demonstrated to be associated with a substantially increased risk of epilepsy in appropriately designed studies. The structural brain abnormality can be acquired (such as due to stroke, trauma or infection) or may be of genetic origin; however, as we currently understand it, the structural brain abnormality is a separate disorder interposed between the acquired or genetic defect and the epilepsy. tmpaxzxjjyw_mondo_relaxed.owl 2018-06-23 19:24:32+00:00 owl:Class UBERON:0013753 biolink:NamedThing distal epiphysis of metacarpal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0080145 biolink:NamedThing cysteine homeostasis Any process involved in the maintenance of an internal steady state of cysteine within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005534 biolink:NamedThing ileocolitis Ileocolitis or ileal Crohn's is the most common type of Crohn's disease. It affects both the ileum (small intestine) and the colon. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10062647|ICD10:K52.9|EFO:0005624|DOID:0060190|UMLS:C0949272 owl:Class CL:0000971 biolink:NamedThing IgM memory B cell An IgM memory B cell is an unswitched memory B cell with the phenotype IgM-positive and IgD-negative. tmpaxzxjjyw_mondo_relaxed.owl IgM memory B-cell|memory IgM B cell|memory IgM B-lymphocyte|IgM memory B-lymphocyte|memory IgM B-cell|IgM memory B lymphocyte|memory IgM B lymphocyte IgM memory B cells are also reportedly CD1c-positive, CD95-positive, CD80-positive, CD84-positive, CD86-positive, CD150-negative, CD229-positive, CD289-positive, and CD290-positive. Transcription factors: Notch2-positive, PAX5-positive, SpiB-positive, Ets1-positive, and OBF1-positive. cell owl:Class MONDO:0006202 biolink:NamedThing extrahepatic bile duct adenosquamous carcinoma A carcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of glandular and squamous malignant epithelial components. tmpaxzxjjyw_mondo_relaxed.owl adenosquamous bile duct carcinoma|adenosquamous carcinoma of the bile duct|bile duct adenosquamous carcinoma|adenosquamous carcinoma of bile duct|extrahepatic bile duct adenosquamous carcinoma EFO:1000247|UMLS:C0861854|NCIT:C5778 owl:Class GO:0032230 biolink:NamedThing positive regulation of synaptic transmission, GABAergic Any process that activates, maintains or increases the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). tmpaxzxjjyw_mondo_relaxed.owl upregulation of synaptic transmission, GABAergic|up regulation of synaptic transmission, GABAergic|activation of synaptic transmission, GABAergic|stimulation of synaptic transmission, GABAergic|up-regulation of synaptic transmission, GABAergic owl:Class GO:0051932 biolink:NamedThing synaptic transmission, GABAergic The vesicular release of gamma-aminobutyric acid (GABA). from a presynapse, across a chemical synapse, the subsequent activation of GABA receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. tmpaxzxjjyw_mondo_relaxed.owl synaptic transmission, gamma-aminobutyric acid mediated|GABAergic synaptic transmission|synaptic transmission, GABA mediated|synaptic transmission, gamma-aminobutyric acid-ergic owl:Class OBO:CHR_9606-chr3q2 biolink:NamedThing 3q2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 198295559 122200000 hg38 owl:Class MONDO:0013591 biolink:NamedThing epiphyseal dysplasia, multiple, 6 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene. tmpaxzxjjyw_mondo_relaxed.owl epiphyseal dysplasia, multiple, type 6|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1|epiphyseal dysplasia, multiple, 6|COL9A1 multiple epiphyseal dysplasia (disease)|multiple epiphyseal dysplasia 6|EDM6 GARD:0013376|OMIM:614135|DOID:0070301|UMLS:C2675767|Orphanet:166002 https://rarediseases.info.nih.gov/diseases/13376/multiple-epiphyseal-dysplasia-6 owl:Class HGNC:2217 biolink:NamedThing COL9A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29478 biolink:NamedThing ROGDI tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014533 biolink:NamedThing developmental and epileptic encephalopathy, 28 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene. tmpaxzxjjyw_mondo_relaxed.owl WOREE syndrome|early infantile epileptic encephalopathy caused by mutation in WWOX|EIEE28|WWOX-related epileptic encephalopathy|DEE28|epileptic encephalopathy, early infantile, type 28|epileptic encephalopathy, early infantile, 28|WWOX early infantile epileptic encephalopathy OMIM:616211|DOID:0080452|UMLS:C4015519 https://github.com/monarch-initiative/mondo/issues/3829 owl:Class HGNC:12799 biolink:NamedThing WWOX tmpaxzxjjyw_mondo_relaxed.owl owl:Class Na4e4ceb9024d45dfb43bb48a2d834f44 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0010059 biolink:NamedThing hypoglossal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000092 biolink:NamedThing hair follicular keratinocyte Any keratinocyte that is part of a hair follicle. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2015-03-31T21:07:02Z cell owl:Class UBERON:0002073 biolink:NamedThing hair follicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008817 biolink:NamedThing arterial calcification, generalized, of infancy, 1 An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications. tmpaxzxjjyw_mondo_relaxed.owl arterial calcification, generalized, of infancy, 1|coronary sclerosis, medial, of infancy|GACI1|arteriopathy, occlusive infantile|idiopathic infantile arterial calcification|arterial calcification of infancy caused by mutation in ENPP1|Gaci|ENPP1 arterial calcification of infancy|generalized arterial calcification of infancy 1|arterial calcification, generalized, of infancy, type 1|arterial calcification, idiopathic infantile OMIM:208000|NCIT:C128805|Orphanet:51608 owl:Class HGNC:3356 biolink:NamedThing ENPP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060627 biolink:NamedThing regulation of vesicle-mediated transport Any process that modulates the rate, frequency, or extent of vesicle-mediated transport, the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001621 biolink:NamedThing tick-borne relapsing fever An infection that is caused by certain species of Rickettsia or Borrelia, which are transmitted to humans from infected ticks; it is characterized by sudden fever, chills, headaches, myalgia, arthralgia, nausea, and possibly a rash. Symptoms usually persist for two to nine days, then disappear, with recurrence after several weeks if the patient remains untreated. tmpaxzxjjyw_mondo_relaxed.owl Relapsing fever, tick-borne ICD9:087.1|UMLS:C0035022|ICD10:A68.1|SCTID:10301003|NCIT:C34976|DOID:13036 owl:Class MONDO:0014762 biolink:NamedThing heterotaxy, visceral, 7, autosomal Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene. tmpaxzxjjyw_mondo_relaxed.owl heterotaxy, visceral, 7, autosomal; HTX7|HTX7|visceral heterotaxy caused by mutation in MMP21|heterotaxy, visceral, 7, autosomal|MMP21 visceral heterotaxy OMIM:616749|UMLS:C4225217 owl:Class HGNC:14357 biolink:NamedThing MMP21 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021281 biolink:NamedThing cavernous hemangioma of retina A cavernous hemangioma that involves the retina. tmpaxzxjjyw_mondo_relaxed.owl retina cavernous angioma|retina cavernous hemangioma|cavernous angioma of the retina|retinal cavernous hemangioma|cavernous hemangioma of the retina|retinal cavernous angioma|cavernous angioma of retina NCIT:C4921|UMLS:C0730304|SCTID:312937006 owl:Class MONDO:0014900 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2Y Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive muscular dystrophy due to LAP1B deficiency|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1|autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency|TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy with progressive weakness, distal contractures and rigid spine|LGMD2Y|muscular dystrophy, limb-girdle, type 2Y|muscular dystrophy, limb-girdle, type 2y OMIM:617072|ICD10:G71.0|DOID:0110289|Orphanet:424261|UMLS:C4310731|SCTID:725907002 owl:Class HGNC:29456 biolink:NamedThing TOR1AIP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012358 biolink:NamedThing manual digitopodium bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012151 biolink:NamedThing skeleton of manual digitopodium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008700 biolink:NamedThing acheiropody Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance. tmpaxzxjjyw_mondo_relaxed.owl acheiropody|horn-Kolb syndrome|ACHP|acheiropodia|acheiropody, Brazilian type Orphanet:931|SCTID:177504007|GARD:0000376|OMIM:200500|MESH:C536014|ICD10:Q74.8|DOID:0050603 owl:Class MONDO:0008660 biolink:NamedThing autosomal dominant hypophosphatemic rickets Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia. tmpaxzxjjyw_mondo_relaxed.owl hypophosphatemic rickets, autosomal dominant|hereditary hypophosphatemic rickets, autosomal dominant|vitamin D-resistant rickets, autosomal dominant|autosomal dominant hereditary hypophosphatemic rickets|hypophosphatemia, autosomal dominant|ADHR|autosomal dominant hypophosphatemic rickets|autosomal dominant hypophosphatemia DOID:0050948|MESH:C562791|ICD10:E83.3|OMIM:193100|Orphanet:89937|UMLS:C0342642|SCTID:237889002 owl:Class HGNC:3680 biolink:NamedThing FGF23 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000046 biolink:NamedThing ventricular cardiac muscle cell Any cardiac muscle cell that is part of a cardiac ventricle. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-08-12T20:50:28Z cell owl:Class MONDO:0006366 biolink:NamedThing Peutz-Jeghers polyp of the stomach A non-neoplastic polyp that arises from the stomach and is characterized by the presence of smooth muscle branching bands, and hyperplasia with cystic dilatation of the foveolar epithelium. tmpaxzxjjyw_mondo_relaxed.owl Gastric Peutz-Jeghers polyp EFO:1000471|NCIT:C36205|UMLS:C1335398 owl:Class MONDO:0010545 biolink:NamedThing Nance-Horan syndrome Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl NHS|cataract, X-linked, with Hutchinsonian teeth|cataract X-linked with Hutchinsonian teeth|Nance-Horan syndrome|Mesiodens-cataract syndrome|cataract dental syndrome|cataract-dental syndrome|Mesiodens cataract syndrome ICD9:759.89|GARD:0007161|Orphanet:627|OMIM:302350|UMLS:C0796085|SCTID:445257004|ICD10:Q87.0|DOID:0060599|MESH:C538336 https://rarediseases.info.nih.gov/diseases/7161/nance-horan-syndrome owl:Class MONDO:0001618 biolink:NamedThing balanoposthitis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004691|ICD10:N47.6|ICD9:607.1|DOID:13031|SCTID:46090001 owl:Class MONDO:0003341 biolink:NamedThing subungual glomus tumor A glomus tumor arising in the finger and usually associated with pain. tmpaxzxjjyw_mondo_relaxed.owl subungual glomus tumor DOID:5236|SCTID:403973004|NCIT:C36079|UMLS:C1304510|ICD9:228.09 owl:Class UBERON:0004105 biolink:NamedThing subungual region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004636 biolink:NamedThing lip carcinoma in situ A in situ carcinoma that involves the lip. tmpaxzxjjyw_mondo_relaxed.owl stage 0 cancer of the Lip|stage 0 Lip cancer aJCC v6 and v7|stage 0 cancer of Lip|stage 0 Lip cancer aJCC v6|carcinoma in situ of the Lip|stage 0 Lip cancer aJCC v7|stage 0 carcinoma of the Lip|stage 0 Lip cancer|lip in situ carcinoma|stage 0 lip carcinoma|stage 0 carcinoma of Lip|carcinoma in situ of lip UMLS:C0347082|SCTID:92643000|ICD10:D00.0|NCIT:C4588|UMLS:C4316815|ICD9:230.0|DOID:8661 owl:Class UBERON:0001833 biolink:NamedThing lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007289 biolink:NamedThing cataract 13 with adult I phenotype A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. tmpaxzxjjyw_mondo_relaxed.owl CTRCT13|cataract 13 with ADULT I phenotype|cataract 13 with adult I phenotype Orphanet:91492|DOID:0110242|UMLS:C3805373|ICD10:Q12.0|OMIM:116700 Not in the OMIM series. owl:Class HGNC:4204 biolink:NamedThing GCNT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008345 biolink:NamedThing ileal epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008344 biolink:NamedThing intestinal villus of ileum tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043384 biolink:NamedThing pre-T cell receptor complex A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. tmpaxzxjjyw_mondo_relaxed.owl pre-TCR complex|pre-T lymphocyte receptor complex|pre-T-cell receptor complex|pre-T-lymphocyte receptor complex owl:Class UBERON:0010096 biolink:NamedThing future myelencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005290 biolink:NamedThing myelencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005432 biolink:NamedThing aortic sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006821 biolink:NamedThing kidney papillary necrosis A complication of kidney diseases characterized by cell death involving kidney papilla in the kidney medulla. Damages to this area may hinder the kidney to concentrate urine resulting in polyuria. Sloughed off necrotic tissue may block kidney pelvis or ureter. Necrosis of multiple renal papillae can lead to kidney failure. tmpaxzxjjyw_mondo_relaxed.owl papillary necrosis|renal papillitis necrotizing|necrotizing renal papillitis DOID:2981|ICD9:583.7|EFO:1001004|MedDRA:10028865|MESH:D007681|SCTID:90241004|UMLS:C0022667 owl:Class UBERON:0001228 biolink:NamedThing renal papilla tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000284 biolink:NamedThing Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type tmpaxzxjjyw_mondo_relaxed.owl nephropathis epidemica|nephropathia epidemica UMLS:C0242993|DOID:0050201 owl:Class NCBITaxon:447135 biolink:NamedThing Myodes glareolus tmpaxzxjjyw_mondo_relaxed.owl Clethrionomys glareolus|Bank vole|bank vole GC_ID:1 NCBITaxon:51090 ncbi_taxonomy owl:Class MONDO:0004092 biolink:NamedThing thymic basaloid carcinoma A rare primary thymic carcinoma, characterized by the presence of tumor cell lobules with peripheral palisading, and a basophilic staining pattern. More than half of reported cases were associated with the presence of a multilocular thymic cyst. Metastases to lung and liver have been reported in approximately 30% of cases. tmpaxzxjjyw_mondo_relaxed.owl thymic basaloid carcinoma|thymus basaloid squamous cell carcinoma|basaloid carcinoma of Thymus|Thymus basaloid carcinoma|basaloid carcinoma of the Thymus NCIT:C6456|UMLS:C1332464|DOID:7050 owl:Class MONDO:0013751 biolink:NamedThing cutis laxa, autosomal dominant 2 Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant cutis laxa caused by mutation in FBLN5|cutis laxa, autosomal dominant type 2|autosomal dominant cutis laxa 2|FBLN5 autosomal dominant cutis laxa|cutis laxa, autosomal dominant 2|ADCL2 OMIM:614434|UMLS:C3280794|Orphanet:90348 owl:Class HGNC:3602 biolink:NamedThing FBLN5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010160 biolink:NamedThing lumen of lymphatic vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008062 biolink:NamedThing narcolepsy 1 A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy. tmpaxzxjjyw_mondo_relaxed.owl NRCLP1|cataplexy|narcolepsy type 1|narcolepsy 1|narcoleptic syndrome 1|HCRT narcolepsy|narcolepsy caused by mutation in HCRT Orphanet:2073|UMLS:C1834372|SCTID:46263000|NCIT:C84618|OMIM:161400 owl:Class HGNC:4847 biolink:NamedThing HCRT tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010762 biolink:NamedThing Chordoma A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis. tmpaxzxjjyw_mondo_relaxed.owl MSH:D002817|UMLS:C0008487|NCIT:C2947|SNOMEDCT_US:50007008 The notochord is a mesodermal embryonic structure that defines the primitive axis of the embryo and which survives in the adult vertebral column as the intervertebral disks. peter 2010-06-25T09:00:39Z human_phenotype owl:Class ECTO:9001935 biolink:NamedThing exposure to oxidising agent An exposure to oxidising agent. tmpaxzxjjyw_mondo_relaxed.owl exposure to oxidising agent owl:Class CHEBI:63248 biolink:NamedThing oxidising agent A substance that removes electrons from another reactant in a redox reaction. tmpaxzxjjyw_mondo_relaxed.owl oxidizing agents|oxidizers|oxidisers|oxidising agents|oxidizing agent|oxidant|oxidants|oxidizer|oxidiser owl:Class UBERON:0009648 biolink:NamedThing eyelid subcutaneous connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0099160 biolink:NamedThing postsynaptic intermediate filament cytoskeleton The intermediate filament cytoskeleton that is part of a postsynapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012939 biolink:NamedThing Diamond-Blackfan anemia 8 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS7 gene. tmpaxzxjjyw_mondo_relaxed.owl DBA8|Diamond-Blackfan anemia 8|Diamond-Blackfan Anemia type 8|Diamond-Blackfan anemia caused by mutation in RPS7|RPS7 Diamond-Blackfan anemia UMLS:C2675511|OMIM:612563|MESH:C567253 owl:Class HGNC:10440 biolink:NamedThing RPS7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002165 biolink:NamedThing endocardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015788 biolink:NamedThing olfactory apparatus chamber tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008367 biolink:NamedThing breast epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060054 biolink:NamedThing positive regulation of epithelial cell proliferation involved in wound healing Any process that activates or increases the rate or extent of epithelial cell proliferation, contributing to the restoration of integrity to a damaged tissue following an injury. tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16p biolink:NamedThing 16p (Human) tmpaxzxjjyw_mondo_relaxed.owl 36800000 0 hg38 owl:Class HsapDv:0000108 biolink:NamedThing 14-year-old human stage Adolescent stage that refers to an adolescent who is over 14 and under 15 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000086 biolink:NamedThing adolescent stage Mature stage that refers to an adolescent who is over 13 and under 19 years old. tmpaxzxjjyw_mondo_relaxed.owl 13-18 years|teenager|teen owl:Class UBERON:0006240 biolink:NamedThing future forebrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002792 biolink:NamedThing lumbar spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003386 biolink:NamedThing bladder clear cell adenocarcinoma A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells distributed in a tubulo-cystic, papillary, or diffuse pattern. There is a female predilection. Clinical presentation includes hematuria and dysuria. tmpaxzxjjyw_mondo_relaxed.owl urinary bladder clear cell adenocarcinoma|clear cell adenocarcinoma of the urinary bladder|clear cell adenocarcinoma of bladder|bladder mesonephric adenocarcinoma|bladder clear cell adenocarcinoma|clear cell adenocarcinoma of the bladder|clear cell adenocarcinoma of urinary bladder NCIT:C6179|DOID:5306|UMLS:C1332557 owl:Class MONDO:0013011 biolink:NamedThing atrial septal defect 5 Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene. tmpaxzxjjyw_mondo_relaxed.owl ASD5|atrial heart septal defect type 5|atrial septal defect type 5|ACTC1 atrial heart septal defect|atrial heart septal defect caused by mutation in ACTC1|atrial septal defect 5 MESH:C567561|ICD10:Q21.1|DOID:0110110|OMIM:612794|UMLS:C2748552|Orphanet:1478 owl:Class HGNC:143 biolink:NamedThing ACTC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011559 biolink:NamedThing benign recurrent intrahepatic cholestasis type 2 tmpaxzxjjyw_mondo_relaxed.owl BRIC2|cholestasis, benign recurrent intrahepatic 2|recurrent familial intrahepatic cholestasis 2|mild ABCB11 deficiency|cholestasis, benign recurrent intrahepatic, 2|benign recurrent intrahepatic cholestasis 2|cholestasis, benign recurrent intrahepatic, type 2|Bric type 2 DOID:0070232|OMIM:605479|GARD:0010029|ICD10:K83.1|Orphanet:65682|MESH:C535934|Orphanet:99961|GARD:10029 https://rarediseases.info.nih.gov/diseases/10029/benign-recurrent-intrahepatic-cholestasis-2 owl:Class HGNC:42 biolink:NamedThing ABCB11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0040011 biolink:NamedThing locomotion Self-propelled movement of a cell or organism from one location to another. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001656 biolink:NamedThing decreased osmolarity A osmolarity which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl low osmolarity owl:Class MONDO:0015350 biolink:NamedThing 17q11.2 microduplication syndrome 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl dup(17)(q11.2)|Grisart-Destrée syndrome|Grisart-Destree syndrome|trisomy 17q11.2 ICD10:Q92.3|UMLS:CN199408|UMLS:C4304642|SCTID:719583002|OMIM:613675|Orphanet:139474 owl:Class OBO:CHR_9606-chr17q11.2 biolink:NamedThing 17q11.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 33500000 27400000 hg38 owl:Class UBERON:0008346 biolink:NamedThing duodenal epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002114 biolink:NamedThing duodenum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011866 biolink:NamedThing pontocerebellar hypoplasia type 1A Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1|pontocerebellar hypoplasia with infantile spinal muscular atrophy|pontocerebellar hypoplasia with anterior horn cell disease|PCH1A|pontocerebellar hypoplasia, type 1A|Pch1|VRK1 non-syndromic pontocerebellar hypoplasia DOID:0060265|OMIM:607596|UMLS:C1843504|Orphanet:2254 owl:Class HGNC:12718 biolink:NamedThing VRK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012196 biolink:NamedThing autosomal dominant auditory neuropathy 1 Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant auditory neuropathy type 1|auditory neuropathy, nonsyndromic dominant|AUNA1|nonsyndromic dominant auditory neuropathy|DIAPH3 auditory neuropathy|auditory neuropathy caused by mutation in DIAPH3|auditory neuropathy, autosomal dominant, type 1|auditory neuropathy, autosomal dominant, 1|NSDAN UMLS:C1836743|OMIM:609129|DOID:0060690|MESH:C563790|ICD10:H90.3 owl:Class HGNC:15480 biolink:NamedThing DIAPH3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036214 biolink:NamedThing rectosigmoid junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011997 biolink:NamedThing Hermansky-Pudlak syndrome 2 A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. tmpaxzxjjyw_mondo_relaxed.owl HPS2|Hermansky Pudlak syndrome 2|Hermansky-Pudlak syndrome caused by mutation in AP3B1|Hermansky-Pudlak syndrome type 2|HPS-2|Hermansky-Pudlak syndrome with neutropenia|Platelet defects and oculocutaneous albinism|Hermansky-Pudlak syndrome 2|AP3B1 Hermansky-Pudlak syndrome Orphanet:79430|UMLS:C1842362|Orphanet:183678|GARD:0009435|DOID:0060540|ICD10:E70.3|NCIT:C150368|MESH:C537709|OMIM:608233 https://rarediseases.info.nih.gov/diseases/9435/hermansky-pudlak-syndrome-2 owl:Class HGNC:566 biolink:NamedThing AP3B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016619 biolink:NamedThing autosomal recessive hypohidrotic ectodermal dysplasia A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations. tmpaxzxjjyw_mondo_relaxed.owl anhidrotic ectodermal dysplasia, autosomal recessive|hypohidrotic ectodermal dysplasia autosomal recessive|AR-HED|autosomal recessive anhidrotic ectodermal dysplasia|hypohidrotic ectodermal dysplasia, autosomal recessive Orphanet:248|UMLS:C0406702|OMIM:614941|NCIT:C84580|GARD:0002057|ICD10:Q82.4|MESH:D053360|SCTID:27025001|OMIM:224900 https://rarediseases.info.nih.gov/diseases/2057/hypohidrotic-ectodermal-dysplasia-autosomal-recessive owl:Class OBO:CHR_9606-chr6pter-p24 biolink:NamedThing 6pter-p24 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0005743 biolink:NamedThing encephalitozoonosis Infection with fungi of the genus encephalitozoon. Lesions commonly occur in the brain and kidney tubules. Other sites of infection in mammals are the liver; adrenal glands; optic nerves; retina; and myocardium. tmpaxzxjjyw_mondo_relaxed.owl infection by Encephalitozoon UMLS:C0085412|MESH:D016890|SCTID:12825006|EFO:0007250|DOID:4270|ICD9:136.8 owl:Class NCBITaxon:27973 biolink:NamedThing Encephalitozoon hellem tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010859 biolink:NamedThing atrioventricular septal defect 3 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene. tmpaxzxjjyw_mondo_relaxed.owl atrioventricular septal defect caused by mutation in GJA1|atrioventricular septal defect 3|AVSD3|atrioventricular septal defect type 3|GJA1 atrioventricular septal defect UMLS:C3275750|Orphanet:98722|OMIM:600309 owl:Class HGNC:4274 biolink:NamedThing GJA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002190 biolink:NamedThing subcutaneous adipose tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018276 biolink:NamedThing muscular dystrophy-dystroglycanopathy tmpaxzxjjyw_mondo_relaxed.owl congenital muscular dystrophy due to dystroglycanopathy|CMD due to dystroglycanopathy|muscular dystrophy-dystroglycanopathy OMIM:615181|OMIM:615351|OMIM:613152|ICD10:G71.2|OMIM:613154|OMIM:616052|DOID:0050588|OMIM:616094|OMIM:615350|OMIM:614643|OMIM:614830|UMLS:CN229783|Orphanet:370953|OMIM:615041|OMIM:615249|OMIM:615287|OMIM:613150|OMIM:613151|OMIM:613153|OMIM:613156|GARD:0012584|OMIM:613155 owl:Class UBERON:0003554 biolink:NamedThing hindbrain pia mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr3q biolink:NamedThing 3q (Human) tmpaxzxjjyw_mondo_relaxed.owl 198295559 90900000 hg38 owl:Class CHEBI:32487 biolink:NamedThing L-phenylalaninium An optically active form of phenylalaninium having L-configuration. tmpaxzxjjyw_mondo_relaxed.owl L-phenylalanine cation|(1S)-1-carboxy-2-phenylethanaminium|L-phenylalaninium owl:Class UBERON:0018664 biolink:NamedThing neck of bone element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014669 biolink:NamedThing cone-rod dystrophy 21 Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene. tmpaxzxjjyw_mondo_relaxed.owl DRAM2 cone-rod dystrophy|CORD21|retinal dystrophy with early macular involvement|cone-rod dystrophy 21|cone-rod dystrophy caused by mutation in DRAM2|cone-rod dystrophy type 21 OMIM:616502|UMLS:CN231743|UMLS:C4049066 owl:Class HGNC:28769 biolink:NamedThing DRAM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000017 biolink:NamedThing sand A naturally occurring granular material composed of finely divided rock and mineral particles. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903038 biolink:NamedThing negative regulation of leukocyte cell-cell adhesion Any process that stops, prevents or reduces the frequency, rate or extent of leukocyte cell-cell adhesion. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of leukocyte adhesion|down-regulation of leukocyte cell-cell adhesion|inhibition of leukocyte cell adhesion|downregulation of leukocyte adhesion|down regulation of leukocyte cell-cell adhesion|down-regulation of leukocyte adhesion|down-regulation of leukocyte cell adhesion|downregulation of leukocyte cell adhesion|negative regulation of leukocyte cell adhesion|down regulation of leukocyte adhesion|down regulation of leukocyte cell adhesion|downregulation of leukocyte cell-cell adhesion|inhibition of leukocyte adhesion|inhibition of leukocyte cell-cell adhesion owl:Class GO:0007159 biolink:NamedThing leukocyte cell-cell adhesion The attachment of a leukocyte to another cell via adhesion molecules. tmpaxzxjjyw_mondo_relaxed.owl leukocyte adhesion|leukocyte cell adhesion owl:Class UBERON:0001805 biolink:NamedThing autonomic ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002410 biolink:NamedThing autonomic nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000138 biolink:NamedThing 44-year-old human stage Adult stage that refers to an adult who is over 44 and under 45. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017646 biolink:NamedThing neurodegenerative disease with chorea tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:306719|UMLS:CN203538 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurodegenerative disease' MONDO_0005559 owl:Class MONDO:0015073 biolink:NamedThing gallbladder neuroendocrine tumor, grade 1/2 A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the gallbladder. tmpaxzxjjyw_mondo_relaxed.owl gallbladder neuroendocrine tumor|gallbladder well differentiated endocrine tumor/carcinoma|gallbladder NET|gallbladder well differentiated endocrine tumor ICD10:C23|NCIT:C96918|UMLS:CN197366|UMLS:C3273116|Orphanet:100086 owl:Class MONDO:0024495 biolink:NamedThing tumor grade 1 or 2, general grading system tmpaxzxjjyw_mondo_relaxed.owl grade 1/2 owl:Class GO:0001808 biolink:NamedThing negative regulation of type IV hypersensitivity Any process that stops, prevents, or reduces the rate of type IV hypersensitivity, a type of inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of type IV hypersensitivity|downregulation of type IV hypersensitivity|inhibition of type IV hypersensitivity|down regulation of type IV hypersensitivity owl:Class GO:0001806 biolink:NamedThing type IV hypersensitivity An inflammatory response driven by T cell recognition of processed soluble or cell-associated antigens leading to cytokine release and leukocyte activation. tmpaxzxjjyw_mondo_relaxed.owl delayed hypersensitivity response|delayed-type hypersensitivity owl:Class CHEBI:33913 biolink:NamedThing corrinoid A derivative of the corrin nucleus, which contains four reduced or partly reduced pyrrole rings joined in a macrocycle by three =C- groups and one direct carbon-carbon bond linking alpha positions. tmpaxzxjjyw_mondo_relaxed.owl Corrinoid|corrinoids|corrinoid|corrinoide|Corrinoid protein Co+|corrinoides|Corrinoid protein|Korrinoid owl:Class GO:0002053 biolink:NamedThing positive regulation of mesenchymal cell proliferation The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells. tmpaxzxjjyw_mondo_relaxed.owl stimulation of mesenchymal cell proliferation|activation of mesenchymal cell proliferation|up-regulation of mesenchymal cell proliferation|upregulation of mesenchymal cell proliferation|up regulation of mesenchymal cell proliferation owl:Class GO:0010463 biolink:NamedThing mesenchymal cell proliferation The multiplication or reproduction of cells, resulting in the expansion of a mesenchymal cell population. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010687 biolink:NamedThing nephrolithiasis, X-linked recessive, with renal failure tmpaxzxjjyw_mondo_relaxed.owl XRN|urolithiasis, X-linked recessive, type 1|nephrolithiasis, X-linked recessive, with renal failure|nephrolithiasis, X-linked recessive, type 1|nephrolithiasis 1 OMIM:310468|MESH:C562901|Orphanet:1652|SCTID:236713006|Orphanet:93622 Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact nephrolithiasis is sometimes a feature of dent disease. We capture this separately in annotations owl:Class UBERON:0019315 biolink:NamedThing meibum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010075 biolink:NamedThing spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene. tmpaxzxjjyw_mondo_relaxed.owl SEMDJL|SEMDJL1|spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures|spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6|B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity|spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures OMIM:271640|DOID:0112198|Orphanet:93359 owl:Class HGNC:17978 biolink:NamedThing B3GALT6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002364 biolink:NamedThing tympanic membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr7p11.2-p13 biolink:NamedThing 7p11.2-p13 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0009877 biolink:NamedThing Laron syndrome Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration. tmpaxzxjjyw_mondo_relaxed.owl primary GH resistance|Laron dwarfism|Laron syndrome|GH receptor deficiency|growth hormone insensitivity syndrome|Growth hormone receptor deficiency|primary growth hormone resistance|complete growth hormone insensitivity|Laron-type isolated somatotropin defect|pituitary dwarfism II|primary growth hormone insensitivity|primary GH insensitivity|Laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism 2|Laron type pituitary dwarfism I DOID:9521|NCIT:C130994|GARD:0006859|Orphanet:633|UMLS:C0271568|ICD10:E34.3|MESH:D046150|SCTID:38196001|OMIM:262500 owl:Class HGNC:4263 biolink:NamedThing GHR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014736 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2Z Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the MORC2 gene. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease caused by mutation in MORC2|Charcot-Marie-Tooth neuropathy type 2Z|CMT2Z|autosomal dominant Charcot-Marie-Tooth disease type 2Z|Charcot-Marie-Tooth disease, axonal, type 2Z|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z|MORC2 Charcot-Marie-Tooth disease|autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z|autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation|Charcot-Marie-Tooth disease, axonal, type 2z|Charcot-Marie-Tooth neuropathy, type 2Z OMIM:616688|Orphanet:466768|DOID:0110181|UMLS:C4225243 owl:Class HGNC:23573 biolink:NamedThing MORC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007492 biolink:NamedThing early-onset generalized limb-onset dystonia A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body. tmpaxzxjjyw_mondo_relaxed.owl Oppenheim dystonia|dystonia musculorum deformans|early-onset torsion dystonia|torsion dystonia 1, autosomal dominant|Early-onset torsion dystonia|DYT-TOR1A dystonia|early onset torsion dystonia|idiopathic dystonia DYT1|early-onset primary dystonia|DYT-TOR1A|EOTD|early onset primary dystonia|Dyt1|early-onset generalized limb-onset dystonia|torsion dystonia type 1|dystonia 1|idiopathic torsion dystonia|Early-onset Primary dystonia|early-onset generalized torsion dystonia|idiopathic dystonia|dystonia 1, torsion, Autosomal dominant|Primary torsion dystonia|DYT1|dystonia musculorum deformans 1|Oppenheim's dystonia|dystonia 1, torsion, autosomal dominant|torsion dystonia 1 UMLS:C0013423|DOID:0060730|OMIM:128100|MESH:C538005|NCIT:C116718|GARD:0002027|Orphanet:256|OMIM:602554|UMLS:C3888090|ICD10:G24.1 MONDO:0023033 https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-dystonia owl:Class HGNC:3098 biolink:NamedThing TOR1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010148 biolink:NamedThing Mounier-Kuhn syndrome Mounier-Kuhn syndrome, also known as idiopathic tracheobronchomegaly, is a congenital disorder characterized by marked dilatation of the trachea and proximal bronchi that leads to impaired airway secretion clearance and recurrent lower respiratory tract infections. tmpaxzxjjyw_mondo_relaxed.owl congenital tracheobronchomegaly|idiopathic tracheobronchomegaly|Mounier Kuhn syndrome|tracheobronchomegaly|Mounier-Kühn syndrome|Mounier-Kuhn syndrome UMLS:C0040587|SCTID:57451009|ICD9:748.3|Orphanet:3347|MESH:D014137|ICD10:J98.0|GARD:0003793|OMIM:275300|UMLS:C2713583|GARD:0005234|NCIT:C85196|MedDRA:10044316 owl:Class MONDO:0005522 biolink:NamedThing small intestine carcinoma A carcinoma that arises from epithelial cells of the small intestine tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the small intestine|small intestine carcinoma|small intestine cancer|carcinoma of small intestine|cancer of the small bowel|cancer of small bowel|carcinoma of the small bowel|small intestinal carcinoma|small bowel carcinoma|small intestinal cancer|carcinoma of small bowel|small intestine cancer, NOS|small bowel cancer EFO:0005588|SCTID:448664009|NCIT:C7724|DOID:4907|ONCOTREE:SIC owl:Class UBERON:0009559 biolink:NamedThing metacarpal/tarsal-phalangeal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004302 biolink:NamedThing proximal phalanx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001032 biolink:NamedThing sensory system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003244 biolink:NamedThing epithelium of mammary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019107 biolink:NamedThing Rh deficiency syndrome The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene. The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia. tmpaxzxjjyw_mondo_relaxed.owl Rh-null hemolytic Anemia, regulator type|RHNR|RHN|Rh-Mod|Rh deficiency syndrome|Rh-null disease, regulator type|Rh-null disease|Rh-null syndrome|RH-null, regulator type DOID:0050641|Orphanet:71275|OMIM:268150|ICD10:D58.8|UMLS:C0272052|GARD:0012916|SCTID:37272000|UMLS:C1849387 https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome owl:Class HGNC:10006 biolink:NamedThing RHAG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014718 biolink:NamedThing developmental and epileptic encephalopathy, 34 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 34|SLC12A5 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 34|epileptic encephalopathy, early infantile, 34; EIEE34|DEE34|EIEE34|early infantile epileptic encephalopathy caused by mutation in SLC12A5 DOID:0080460|UMLS:C4225257|OMIM:616645 owl:Class MONDO:0012145 biolink:NamedThing macular degeneration, age-related, 3 Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene. tmpaxzxjjyw_mondo_relaxed.owl ARMD3|macular Degeneration, age-related, type 3|neuropathy, hereditary, with or without age-related macular Degeneration|age-related macular degeneration caused by mutation in FBLN5|FBLN5 age-related macular degeneration|macular degeneration, age-related, 3|HNARMD|neuropathy, hereditary, with or without age-related macular degeneration MESH:C563838|UMLS:C1837187|OMIM:608895 owl:Class MONDO:0014484 biolink:NamedThing microcephaly 12, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene. tmpaxzxjjyw_mondo_relaxed.owl microcephaly 12, primary, autosomal recessive|autosomal recessive primary microcephaly caused by mutation in CDK6|MCPH12|CDK6 autosomal recessive primary microcephaly OMIM:616080|DOID:0070284|UMLS:C4015156 owl:Class HGNC:1777 biolink:NamedThing CDK6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1980519 biolink:NamedThing Crimean-Congo hemorrhagic fever orthonairovirus tmpaxzxjjyw_mondo_relaxed.owl Crimean-Congo haemorrhagic fever virus|Crimean-Congo hemorrhagic virus|Crimean-Congo hemorrhagic fever virus|Crimean-Congo hemorrhagic fever nairovirus|CCHFV GC_ID:1 NCBITaxon:11593 ncbi_taxonomy owl:Class MONDO:0014344 biolink:NamedThing congenital heart defects, multiple types, 4 Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene. tmpaxzxjjyw_mondo_relaxed.owl NR2F2 congenital heart defects, multiple types|CHTD4|congenital heart defects, multiple types, 4|congenital heart defects, multiple types caused by mutation in NR2F2 UMLS:C4014310|Orphanet:98722|OMIM:615779 owl:Class GO:0048818 biolink:NamedThing positive regulation of hair follicle maturation Any process that activates or increases the frequency, rate or extent of hair follicle maturation. tmpaxzxjjyw_mondo_relaxed.owl activation of hair follicle maturation|up regulation of hair follicle maturation|upregulation of hair follicle maturation|stimulation of hair follicle maturation|up-regulation of hair follicle maturation owl:Class UBERON:0004509 biolink:NamedThing skeletal muscle tissue of trapezius tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002380 biolink:NamedThing trapezius muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013576 biolink:NamedThing recurrent infections associated with rare immunoglobulin isotypes deficiency Deficiencies in immunoglobulin (Ig) isotypes (including: isolated IgG subclass deficiency, IgG sublcass deficiency with IgA deficiency and kappa chain deficiency) are primary immunodeficiencies that are often asymptomatic but can be characterized by recurrent, often pyogenic, sinopulmonary infections. tmpaxzxjjyw_mondo_relaxed.owl IMMUNOGLOBULIN kappa LIGHT chain deficiency|recurrent infections associated with rare immunoglobulin isotypes deficiency|IGKCD|selective IgG subclass deficiency|kappa chain deficiency|IgG subclass deficiency with IgA subclass deficiency|kappa-chain deficiency|isolated IgG subclass deficiency MESH:C564131|Orphanet:183675|OMIM:614102|UMLS:C3279824 owl:Class HGNC:5716 biolink:NamedThing IGKC tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006227 biolink:NamedThing ethmoid bone primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007277 biolink:NamedThing presumptive hindbrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001571 biolink:NamedThing genioglossus muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030886 biolink:NamedThing negative regulation of myeloid dendritic cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid dendritic cell activation. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of myeloid dendritic cell activation|downregulation of myeloid dendritic cell activation|inhibition of myeloid dendritic cell activation|down regulation of myeloid dendritic cell activation owl:Class MONDO:0016945 biolink:NamedThing partial duplication of the short arm of chromosome 8 Chromosome 8p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 8p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl partial duplication of the short arm of chromosome type 8|Duplication 8p|partial duplication of chromosome 8p|partial trisomy of the short arm of chromosome 8|partial trisomy of chromosome 8p|8p duplication|8p trisomy|partial trisomy 8p|trisomy 8p|chromosome 8p duplication Orphanet:262758|GARD:0005361 owl:Class OBO:CHR_9606-chr8p biolink:NamedThing 8p (Human) tmpaxzxjjyw_mondo_relaxed.owl 45200000 0 hg38 owl:Class UBERON:0007100 biolink:NamedThing primary circulatory organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010985 biolink:NamedThing Gonosomal inheritance A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023613 peter 2011-02-08T10:16:28Z human_phenotype owl:Class MONDO:0014881 biolink:NamedThing transketolase deficiency tmpaxzxjjyw_mondo_relaxed.owl SDDHD|short stature, developmental delay, and congenital heart defects|short stature-developmental delay-congenital heart defect syndrome|TKT deficiency OMIM:617044|Orphanet:488618|UMLS:C4310751 owl:Class HGNC:11834 biolink:NamedThing TKT tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002313 biolink:NamedThing endocrine-paracrine cell of prostate gland An ecto-epithelial cell of the prostate gland that secretes hormones. tmpaxzxjjyw_mondo_relaxed.owl glandular cell of prostate|neuro-epithelial cell of prostate gland FMA:74390|CALOHA:TS-1280|FMA:86774 tmeehan 2010-09-14T03:01:58Z cell owl:Class MONDO:0018484 biolink:NamedThing semicircular canal dehiscence syndrome Semicircular canal dehiscence (SCD) syndrome is a rare otorhinolaryngologic disease characterized by the uni- or bilateral dehiscence of the bone(s) overlying the superior (most common), lateral or posterior semicircular canal(s). Patients present audiological (autophony, aural fullness, conductive hearing loss, pulsatile tinnitus) and/or vestibular symptoms (sound or pressure-evoked oscillopsia or vertigo, characteristic vertical-torsional eye movements), depending on which semicircular canal is affected. Posterior SCD syndrome is associated with high-riding jugular bulb and fibrous dysplasia, while lateral SCD syndrome is associated with chronic otitis media and cholesteatoma, with or without audiological and vestibular symptoms. tmpaxzxjjyw_mondo_relaxed.owl SCD syndrome|superior semicircular canal dehiscence syndrome|superior canal syndrome|superior semicircular canal dehiscence|third mobile window syndrome|Minorbs syndrome|superior canal dehiscence|canal dehiscence syndrome|Minor's syndrome SCTID:717799003|Orphanet:420402|DOID:0080193|GARD:0010993|ICD10:H83.8 owl:Class MONDO:0045052 biolink:NamedThing benign osteogenic neoplasm A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma. tmpaxzxjjyw_mondo_relaxed.owl benign osteogenic neoplasm|benign osteogenic tumor|benign osseous neoplasm|benign osseous tumor|osteogenic neoplasm, benign NCIT:C6602 owl:Class MONDO:0005051 biolink:NamedThing invasive lobular breast carcinoma An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures. tmpaxzxjjyw_mondo_relaxed.owl lobular carcinoma NOS (morphologic abnormality)|infiltrating lobular carcinoma of the breast|invasive lobular adenocarcinoma|invasive lobular breast carcinoma|lobular carcinoma of the breast|invasive lobular carcinoma|infiltrating lobular carcinoma of breast|infiltrating lobular breast carcinoma|infiltrating lobular adenocarcinoma|lobular carcinoma|invasive lobular carcinoma of breast|lobular carcinoma (morphologic abnormality)|breast invasive lobular carcinoma|invasive lobular carcinoma of the breast|classic invasive lobular carcinoma|invasive lobular carcinoma, classic type SCTID:278054005|UMLS:C0279565|UMLS:C0206692|DOID:3457|EFO:0000553|NCIT:C7950|ONCOTREE:ILC|NCIT:C3771 owl:Class MONDO:0001875 biolink:NamedThing epicondylitis Inflammation of the lateral epicondyle. tmpaxzxjjyw_mondo_relaxed.owl golfer's elbow|andrel epicondylitis|lateral epicondylitis|tennis elbow|medial epicondylitis|archer's elbow|inflammation of ectepicondyle of humerus|ectepicondyle of humerus inflammation|shooter's elbow|hockey elbow ICD9:726.32|DOID:14087|MESH:D013716|ICD10:M77.1|NCIT:C34589|SCTID:202855006|UMLS:C0014488 owl:Class UBERON:0006807 biolink:NamedThing ectepicondyle of humerus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000414 biolink:NamedThing childhood electroclinical syndrome A electroclinical syndrome that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric electroclinical syndrome|electroclinical syndrome of childhood DOID:0050704 owl:Class UBERON:0013704 biolink:NamedThing notochordal canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006268 biolink:NamedThing notochordal process tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905516 biolink:NamedThing positive regulation of fertilization Any process that activates or increases the frequency, rate or extent of fertilization. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of syngamy|up-regulation of fertilization|upregulation of syngamy|positive regulation of syngamy|upregulation of fertilization|up regulation of fertilization|activation of syngamy|activation of fertilization|up regulation of syngamy owl:Class HGNC:48 biolink:NamedThing ABCB7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004096 biolink:NamedThing spinal cord dermoid cyst A dermoid cyst that involves the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl dermoid cyst of the spinal cord|spinal cord dermoid cyst|dermoid cyst of spinal cord|spinal cord dermoid UMLS:C1333278|DOID:7071|NCIT:C6808 owl:Class HGNC:4180 biolink:NamedThing GBE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXp11.23-p11.22 biolink:NamedThing Xp11.23-p11.22 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0005619 biolink:NamedThing typhoid fever A bacterial infectious disorder contracted by consumption of food or drink contaminated with Salmonella typhi. This disorder is common in developing countries and can be treated with antibiotics. tmpaxzxjjyw_mondo_relaxed.owl typhoid|typhoid fever|typhoidal salmonellosis DOID:13258|NCIT:C35089|SCTID:4834000|ICD9:002.0|ICD10:A01.00|MESH:D014435|UMLS:C0041466|GARD:0009564|EFO:0006789|ICD10:A01.0|Orphanet:99745 MONDO:0020486 owl:Class UBERON:0012373 biolink:NamedThing sympathetic nerve plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001771 biolink:NamedThing cow milk based food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03307455 biolink:NamedThing cow milk (raw) tmpaxzxjjyw_mondo_relaxed.owl milk|raw milk SUBSET_SIREN:F7455 SIREN DB annotation: * has quality 'liquid, low viscosity, with no visible particles' (http://purl.obolibrary.org/obo/FOODON_03430123) * has quality 'not heat-treated' (http://purl.obolibrary.org/obo/FOODON_03440003) * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) * has consumer 'not pasteurized claim or use' (http://purl.obolibrary.org/obo/FOODON_03510121) http://langual.org subset_siren owl:Class MONDO:0012250 biolink:NamedThing Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, autosomal recessive, type 4H|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease, type 4H|Charcot-Marie-Tooth neuropathy, type 4H|FGD4 Charcot-Marie-Tooth disease type 4|CMT4H|Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4|Charcot-Marie-Tooth disease type 4H|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H|Charcot-Marie-Tooth neuropathy type 4H|autosomal recessive Charcot-Marie-Tooth disease type 4H GARD:0012442|DOID:0110192|ICD10:G60.0|MESH:C563740|OMIM:609311|Orphanet:99954|SCTID:715802008|UMLS:C1836336 https://rarediseases.info.nih.gov/diseases/12442/charcot-marie-tooth-disease-type-4h owl:Class HGNC:19125 biolink:NamedThing FGD4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001779 biolink:NamedThing iris stroma tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005719 biolink:NamedThing Coronavinae infectious disease Virus diseases caused by the coronavirus genus. Some specifics include transmissible enteritis of turkeys (enteritis, transmissible, of turkeys); feline infectious peritonitis; and transmissible gastroenteritis of swine (gastroenteritis, transmissible, of swine). tmpaxzxjjyw_mondo_relaxed.owl EFO:0007224|MESH:D018352 owl:Class NCBITaxon:693995 biolink:NamedThing Coronavirinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014471 biolink:NamedThing mitochondrial proton-transporting ATP synthase complex deficiency A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS). tmpaxzxjjyw_mondo_relaxed.owl isolated mitochondrial respiratory chain complex V deficiency|isolated ATP synthase deficiency|mitochondrial complex V (ATP synthase) deficiency OMIMPS:604273|Orphanet:254913|OMIM:616045|DOID:0111143|ICD10:E88.8|OMIM:614053|UMLS:C4015062|OMIM:615228|OMIM:604273 Consider splitting out nuclear type for OMIMPS owl:Class MONDO:0020667 biolink:NamedThing Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis tmpaxzxjjyw_mondo_relaxed.owl trapezoidocephaly-synostosis Syndrome|osteodysgenesis, multisynostotic, with fractures|Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis|ABS2|multisynostotic osteodysgenesis with long bone fractures OMIM:207410 owl:Class HGNC:3689 biolink:NamedThing FGFR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010696 biolink:NamedThing skeleton of pedal acropodium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035831 biolink:NamedThing costal diaphragm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100458 biolink:NamedThing MECOM-associated syndrome Any syndrome in which the cause of the disease is a mutation in the MECOM gene. MECOM-associated syndrome has a variable phenotypic pattern, ranging from isolated radioulnar synostosis with no or mild hematological involvement to severe bone marrow failure without obvious skeletal abnormalities. The clinical picture can also include clinodactyly, cardiac and renal malformations, B-cell deficiency, amegakaryocytic thrombocytopenia, and presenile hearing loss. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3952 owl:Class HGNC:3498 biolink:NamedThing MECOM tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:32523 biolink:NamedThing Tetrapoda tmpaxzxjjyw_mondo_relaxed.owl tetrapods GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001838 biolink:NamedThing acute gonococcal prostatitis Acute form of gonococcal prostatitis. tmpaxzxjjyw_mondo_relaxed.owl acute gonococcal prostatitis|gonococcal prostatitis|gonococcal prostatitis (acute)|gonococcal prostatitis, acute DOID:13943|UMLS:C0153192|SCTID:111806005|ICD9:098.12 owl:Class MONDO:0060554 biolink:NamedThing vertebral, cardiac, renal, and limb defects syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl vertebral, cardiac, renal, and limb defects syndrome 1|congenital NAD deficiency Disorder 1|3-hydroxyanthranilic acidemia|VCRL1 UMLS:C4540004|OMIM:617660 owl:Class HGNC:4796 biolink:NamedThing HAAO tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2p biolink:NamedThing 2p (Human) tmpaxzxjjyw_mondo_relaxed.owl 93900000 0 hg38 owl:Class MONDO:0021516 biolink:NamedThing benign neoplasm of glottis A benign neoplasm that involves the glottis. tmpaxzxjjyw_mondo_relaxed.owl glottis benign neoplasm|benign glottis tumor|benign tumor of glottis|benign tumor of the glottis|benign neoplasm of the glottis|benign glottis neoplasm UMLS:C0347234|SCTID:92123007|NCIT:C4605 owl:Class MONDO:0100354 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl megacystis, microcolon, intestinal hypoperistalsis syndrome|megacystis microcolon intestinal hypoperistalsis syndrome|MMIHS|megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH|megacystis, microcolon, hypoperistalsis syndrome|megacystis-microcolon-intestinal hypoperistalsis syndrome|Berdon syndrome|MMIH syndrome|megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Orphanet:2604|UMLS:C1608393|GARD:0003442|OMIM:249210|UMLS:C0266833|NCIT:C98982|Orphanet:2241|MESH:C536138|SCTID:253781004|UMLS:C1835084|ICD10:Q43.8|DOID:0060610 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007619 biolink:NamedThing isolated congenital adermatoglyphia Isolated congenital adermatoglyphia is a rare, genetic develomental defect during embryogenesis disorder characterized by the lack of epidermal ridges on the palms and soles, resulting in the absence of fingerprints, with no other associated manifestations. It is associated with a reduced number of sweat gland openings and reduced transpiration of palms and soles. tmpaxzxjjyw_mondo_relaxed.owl absence of fingerprints|fingerprints, absence of|immigration delay disease|adermatoglyphia|ADERM|congenital absence of fingerprints|ADG|isolated congenital adermatoglyphia OMIM:136000|GARD:0012550|Orphanet:289465|ICD10:Q82.8|MESH:C565010|SCTID:763748007|DOID:0111357 owl:Class HGNC:18398 biolink:NamedThing SMARCAD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005720 biolink:NamedThing cowpox A mild, eruptive skin disease of milk cows caused by cowpox virus, with lesions occurring principally on the udder and teats. Human infection may occur while milking an infected animal. tmpaxzxjjyw_mondo_relaxed.owl yaba EFO:0007225|MESH:D015605|SCTID:70090004|ICD9:051.01|DOID:8956|UMLS:C0010232|ICD10:B08.010 owl:Class NCBITaxon:10243 biolink:NamedThing Cowpox virus tmpaxzxjjyw_mondo_relaxed.owl CPXV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010046 biolink:NamedThing hereditary spastic paraplegia 23 Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. tmpaxzxjjyw_mondo_relaxed.owl SPG23|spastic paraplegia vitiligo premature graying and characteristic facies|spastic paraplegia with pigmentary abnormalities|SPG 23|spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|autosomal recessive spastic paraplegia type 23|hereditary spastic paraplegia type 23|Lison syndrome|autosomal recessive complex spastic paraplegia caused by mutation in DSTYK|spastic paraplegia 23|DSTYK autosomal recessive complex spastic paraplegia|spastic paraplegia and pigmentary abnormalities|spastic paraparesis, vitiligo, premature graying, characteristic facies DOID:0110774|UMLS:C0796019|ICD10:G11.4|Orphanet:101003|GARD:0000336|OMIM:270750|SCTID:726608002|MESH:C536859 owl:Class HGNC:29043 biolink:NamedThing DSTYK tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009059 biolink:NamedThing macromolecule biosynthetic process The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpaxzxjjyw_mondo_relaxed.owl macromolecule synthesis|macromolecule anabolism|biopolymer biosynthetic process|macromolecule biosynthesis|macromolecule formation owl:Class MONDO:0005878 biolink:NamedThing ocular onchocerciasis Onchocerciasis affecting the eye. tmpaxzxjjyw_mondo_relaxed.owl eyeball of camera-type eye onchocerciasis|onchocerciasis of eyeball of camera-type eye SCTID:240842000|UMLS:C0029002|NCIT:C34862|MESH:D015827|EFO:0007398 owl:Class UBERON:0010230 biolink:NamedThing eyeball of camera-type eye tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8778 biolink:NamedThing PDE3A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012108 biolink:NamedThing spondyloepimetaphyseal dysplasia, matrilin-3 type Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. tmpaxzxjjyw_mondo_relaxed.owl SEMD, matrilin-3 type|SEMD MATN3-related|spondyloepimetaphyseal dysplasia matrilin-3 related|spondyloepimetaphyseal dysplasia matrilin-3 type|spondyloepimetaphyseal dysplasia, matrilin-3 related|SEMD, MATN3-related OMIM:608728|GARD:0010611|Orphanet:156728|SCTID:719166003|ICD10:Q77.7|UMLS:C1837481|MESH:C563869 owl:Class HGNC:6909 biolink:NamedThing MATN3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002030 biolink:NamedThing nipple tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:32525 biolink:NamedThing Theria tmpaxzxjjyw_mondo_relaxed.owl Theria GC_ID:1 ncbi_taxonomy owl:Class CL:1000494 biolink:NamedThing nephron tubule epithelial cell An epithelial cell that is part of a nephron tubule. tmpaxzxjjyw_mondo_relaxed.owl kidney tubule epithelial cell KUPO:0001022|FMA:86785 This needs to be further defined as a juxtamedullary nephron. Will request the juxtamedullary nephron tubule class from UBERON. cell owl:Class MONDO:0011714 biolink:NamedThing partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome tmpaxzxjjyw_mondo_relaxed.owl LCCNS|partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome|lipodystrophy, partial, with congenital cataracts and neurodegeneration OMIM:606721|UMLS:C3807567 owl:Class MONDO:0014167 biolink:NamedThing epilepsy, familial adult myoclonic, 5 Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene. tmpaxzxjjyw_mondo_relaxed.owl FAME5|epilepsy, familial ADULT myoclonic, 5|epilepsy, familial adult myoclonic caused by mutation in CNTN2|epilepsy, familial adult myoclonic, type 5|CNTN2 epilepsy, familial adult myoclonic|epilepsy, familial adult myoclonic, 5|cortical myoclonic tremor with epilepsy, familial, 5 DOID:0111691|UMLS:C3809374|OMIM:615400|Orphanet:86814 owl:Class HGNC:2172 biolink:NamedThing CNTN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3157 biolink:NamedThing EDA tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004773 biolink:NamedThing superior eyelid tarsus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001712 biolink:NamedThing upper eyelid tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043467 biolink:NamedThing regulation of generation of precursor metabolites and energy Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and the processes involved in the liberation of energy from these substances. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:779 biolink:NamedThing Ehrlichia ruminantium tmpaxzxjjyw_mondo_relaxed.owl Cowdria ruminantium|Nicollea ruminantium|Kurlovia ruminantium|heartwater rickettsia|Rickettsia ruminantium PMID:11760958|PMID:1380292|PMID:1581187|PMID:11414267|GC_ID:11 ncbi_taxonomy owl:Class UBERON:0005412 biolink:NamedThing optic fissure tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016855 biolink:NamedThing ventral part of optic cup tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:50268 biolink:NamedThing GABA modulator A substance that does not act as agonist or antagonist but does affect the gamma-aminobutyric acid receptor-ionophore complex. GABA-A receptors appear to have at least three allosteric sites at which modulators act: a site at which benzodiazepines act by increasing the opening frequency of gamma-aminobutyric acid-activated chloride channels; a site at which barbiturates act to prolong the duration of channel opening; and a site at which some steroids may act. tmpaxzxjjyw_mondo_relaxed.owl GABA modulators owl:Class UBERON:0004821 biolink:NamedThing pulmonary alveolus epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004894 biolink:NamedThing alveolar wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000989 biolink:NamedThing penis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011541 biolink:NamedThing dilated cardiomyopathy 1J An extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant dilated cardiomyopathy with sensorineural hearing loss|neurosensory deafness with dilated cardiomyopathy|familial dilated cardiomyopathy caused by mutation in EYA4|dilated cardiomyopathy type 1J|sensorineural hearing loss with dilated cardiomyopathy|cardiomyopathy, dilated, 1J|cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant|sensorineural deafness with dilated cardiomyopathy|neurosensory hearing loss with dilated cardiomyopathy|dilated cardiomyopathy 1J|EYA4 familial dilated cardiomyopathy|cardiomyopathy, dilated, type 1J|CMD1J Orphanet:217622|MESH:C565337|UMLS:C1854368|DOID:0110440|OMIM:605362 owl:Class HGNC:4083 biolink:NamedThing GABRB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021020 biolink:NamedThing Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT). tmpaxzxjjyw_mondo_relaxed.owl UGT deficiency type 1|hereditary unconjugated hyperbilirubinemia type 1|Crigler-Najjar syndrome, type 1|Crigler Najjar syndrome, type 1|bilirubin-UGT deficiency type 1|Crigler-Najjar syndrome, type I|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1|hyperbilirubinemia, Crigler-Najjar type 1 ICD10:E80.5|Orphanet:79234|MedDRA:10057034|GARD:0000047|UMLS:C0010324|SCTID:8933000|OMIM:218800 https://rarediseases.info.nih.gov/diseases/47/crigler-najjar-syndrome-type-1 owl:Class HGNC:12530 biolink:NamedThing UGT1A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008859 biolink:NamedThing cardiac gastric gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003440 biolink:NamedThing limb nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000762 biolink:NamedThing nucleated thrombocyte A nucleated blood cell involved in coagulation, typically seen in birds and other non-mammalian vertebrates. tmpaxzxjjyw_mondo_relaxed.owl Note that this is a non-mammalian cell type. Use platelet ; CL:0000233 for thrombocytes (platelets) in mammals. cell owl:Class GO:0007596 biolink:NamedThing blood coagulation The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. tmpaxzxjjyw_mondo_relaxed.owl blood clotting owl:Class MONDO:0017878 biolink:NamedThing Chapare hemorrhagic fever Chapare hemorrhagic fever, caused by the Chapare virus (a new arenavirus), discovered from a small outbreak in Cochabamba, Bolivia between 2003 and 2004, is an acute viral hemorrhagic fever characterized by fever, myalgia, arthralgia, and multiple hemorrhagic signs. About a third of untreated cases go on to develop more severe symptoms with delirium, coma and convulsions and death (in one case). No other cases have been reported since. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050198|UMLS:CN203927|UMLS:C4274434|SCTID:716584007|ICD10:A96.8|Orphanet:319244 owl:Class NCBITaxon:499556 biolink:NamedThing Chapare mammarenavirus tmpaxzxjjyw_mondo_relaxed.owl Chapare virus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11292 biolink:NamedThing Rabies lyssavirus tmpaxzxjjyw_mondo_relaxed.owl Rabies virus GC_ID:1 ncbi_taxonomy owl:Class GO:0043576 biolink:NamedThing regulation of respiratory gaseous exchange Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0099055 biolink:NamedThing integral component of postsynaptic membrane The component of the postsynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045211 biolink:NamedThing postsynaptic membrane A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. tmpaxzxjjyw_mondo_relaxed.owl post-synaptic membrane owl:Class MONDO:0013896 biolink:NamedThing Joubert syndrome 18 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN3 gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome type 18|Joubert syndrome caused by mutation in TCTN3|Joubert syndrome 18|JBTS18|TCTN3 Joubert syndrome DOID:0110987|OMIM:614815|UMLS:C3553758|Orphanet:2754 owl:Class HGNC:24519 biolink:NamedThing TCTN3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0031481 biolink:NamedThing microcephaly, epilepsy, and diabetes syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl MEDS1|primary microcephaly-epilepsy-permanent neonatal diabetes syndrome|microcephaly, epilepsy, and diabetes syndrome Orphanet:306558|OMIM:614231|UMLS:C3280240 owl:Class MONDO:0003753 biolink:NamedThing nasal vestibule squamous papilloma A benign exophytic squamous cell neoplasm with papillary growth that arises from the nasal vestibule. tmpaxzxjjyw_mondo_relaxed.owl nasal vestibule squamous papilloma|squamous papilloma of nasal vestibule|papilloma of the nasal vestibule|squamous papilloma of the nasal vestibule|papilloma of nasal vestibule|nasal vestibule papilloma ICD9:478.19|DOID:6059|UMLS:C0339826|SCTID:232364006|NCIT:C4369 owl:Class UBERON:0000402 biolink:NamedThing nasal vestibule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001059 biolink:NamedThing gastric lymphoma An extranodal lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. tmpaxzxjjyw_mondo_relaxed.owl stomach lymphoma|primary gastric lymphoma|lymphoma of the stomach|lymphoma of stomach|gastric lymphoma UMLS:C0349532|DOID:10540|ICD9:202.83|NCIT:C4636|SCTID:276811008 owl:Class GO:0048870 biolink:NamedThing cell motility Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another. tmpaxzxjjyw_mondo_relaxed.owl cell locomotion|movement of a cell|cell movement owl:Class MONDO:0010863 biolink:NamedThing type 1 diabetes mellitus 5 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the SUMO4 gene. tmpaxzxjjyw_mondo_relaxed.owl IDDM5|diabetes mellitus, insulin-dependent, 5|type 1 diabetes mellitus caused by mutation in SUMO4|diabetes mellitus, insulin-dependent, type 5|insulin-dependent diabetes mellitus 5|SUMO4 type 1 diabetes mellitus ICD10:E10|DOID:0110744|UMLS:C1838260|MESH:C563958|OMIM:600320 owl:Class HGNC:21181 biolink:NamedThing SUMO4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0072359 biolink:NamedThing circulatory system development The process whose specific outcome is the progression of the circulatory system over time, from its formation to the mature structure. The circulatory system is the organ system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells, etc. to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. tmpaxzxjjyw_mondo_relaxed.owl cardiovascular system development owl:Class PATO:0000610 biolink:NamedThing open A morphological quality inhering in a bearer by virtue of the bearer's affording unobstructed passage or view. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025494 biolink:NamedThing porcine reproductive and respiratory syndrome A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by porcine respiratory and reproductive syndrome virus. (Radostits et al., Veterinary Medicine, 8th ed, p1048) tmpaxzxjjyw_mondo_relaxed.owl blue-eared pig disease|swine disease, mystery|PRRS|mystery swine disease|swine infertility and respiratory syndrome|pig disease, blue-eared|blue eared pig disease|porcine epidemic abortion and respiratory syndrome MESH:D019318|UMLS:C0376538 owl:Class UBERON:0001311 biolink:NamedThing inferior vesical artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012548 biolink:NamedThing Kostmann syndrome Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients. tmpaxzxjjyw_mondo_relaxed.owl severe congenital neutropenia autosomal recessive 3|Kostmann disease|neutropenia, severe congenital, 3, autosomal recessive|SCN3|severe congenital neutropenia type 3|agranulocytosis, infantile|infantile agranulocytosis|agranulocytosis infantile GARD:0000302|Orphanet:99749|UMLS:CN032247|OMIM:610738|ICD10:D70 owl:Class HGNC:16915 biolink:NamedThing HAX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014629 biolink:NamedThing autoimmune interstitial lung disease-arthritis syndrome A respiratory disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. tmpaxzxjjyw_mondo_relaxed.owl AILJK|copa defect|copa syndrome|autoimmune interstitial lung, joint, and kidney disease ICD10:J84.8|Orphanet:444092|OMIM:616414|UMLS:C4225334 Editor note: check relationship to RA-ILD owl:Class OBO:CHR_9606-chr2p16.3 biolink:NamedThing 2p16.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 52600000 47500000 hg38 owl:Class MONDO:0013594 biolink:NamedThing spinocerebellar ataxia type 36 Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia. tmpaxzxjjyw_mondo_relaxed.owl SCA36|spinocerebellar ataxia 36|Asidan|spinocerebellar ataxia type 36 NCIT:C148316|DOID:0050983|OMIM:614153|Orphanet:276198|SCTID:711158005|ICD10:G11.8|GARD:0012367|UMLS:C3472711 owl:Class HGNC:15911 biolink:NamedThing NOP56 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000626 biolink:NamedThing olfactory granule cell Granule cell that is part of the olfactory bulb. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0021230 biolink:NamedThing uterine cervix neoplasm A neoplasm (disease) that involves the uterine cervix. tmpaxzxjjyw_mondo_relaxed.owl cervix tumor|tumor of cervix|cervix|neoplasm of the cervix|tumor of cervix uteri|cervix uteri tumor|neoplasm of the uterine cervix|uterine cervix tumor|neoplasm of the cervix uteri|tumor of the cervix|cervical tumor|cervix neoplasm|cervix uteri neoplasm|tumor of the cervix uteri|neoplasm of uterine cervix|neoplasm of cervix uteri|neoplasm of cervix|tumor of uterine cervix|Cervical neoplasm|uterine cervix neoplasm (disease)|tumor of the uterine cervix NCIT:C2940|ONCOTREE:CERVIX owl:Class MONDO:0006250 biolink:NamedThing ileal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ileum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpaxzxjjyw_mondo_relaxed.owl ileum neuroendocrine neoplasm G1|ileal carcinoid tumor|carcinoid tumor of the ileum|ileum carcinoid tumor (disease)|ileum carcinoid tumor|carcinoid tumor of ileum|ileal NET G1|grade 1 neuroendocrine neoplasm of ileum|ileum neuroendocrine tumor, well differentiated, low grade|ileum NET G1|ileal neuroendocrine tumor G1 NCIT:C4935|ICD9:209.03|SCTID:425318003|EFO:1000300|UMLS:C0745216 MONDO:0021536 owl:Class MONDO:0004767 biolink:NamedThing vesiculitis An inflammatory disease involving a pathogenic inflammatory response in the seminal vesicle. tmpaxzxjjyw_mondo_relaxed.owl seminal vesiculitis|gland, seminal vesicle|seminal Sacs|seminal vesicle inflammation|seminal vesicles|inflammation of seminal vesicle|seminal vesicle NCIT:C12787|DOID:9365|ICD10:N49.0|SCTID:27001009|ICD9:608.0|UMLS:C0042588 owl:Class HGNC:3762 biolink:NamedThing FLRT3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004515 biolink:NamedThing smooth muscle tissue of bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002186 biolink:NamedThing bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005908 biolink:NamedThing conjunctival sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024542 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the VLDLR gene. tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 1|cerebellar ataxia, congenital, and intellectual disability, autosomal recessive|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 1|dysequilibrium syndrome caused by mutation in VLDLR|VLDLR dysequilibrium syndrome|cerebellar ataxia, congenital, and mental retardation, autosomal recessive|CAMRQ1|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 1|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1|dysequilibrium syndrome|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1|cerebellar hypoplasia, VLDLR-associated|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1 UMLS:CN074243|Orphanet:1766|OMIM:224050 owl:Class HGNC:12698 biolink:NamedThing VLDLR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014842 biolink:NamedThing intellectual disability, autosomal dominant 41 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability 41|TBL1XR1 autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 41|mental retardation, autosomal dominant type 41|intellectual disability, autosomal dominant type 41|autosomal dominant mental retardation 41|autosomal dominant intellectual disability 41|intellectual disability, autosomal dominant 41|autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1|MRD41 UMLS:C4310784|DOID:0070071|OMIM:616944 owl:Class HGNC:29529 biolink:NamedThing TBL1XR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004383 biolink:NamedThing epiphysis of tibia tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0009033 biolink:NamedThing plasma cell of appendix A plasma cell that is located in a vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl plasma cell of vermiform appendix|plasma cell of appendix vermiformis|appendix plasma cell owl:Class UBERON:0004216 biolink:NamedThing lower arm nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0045068 biolink:NamedThing minor salivary gland adenoid cystic carcinoma An aggressive carcinoma that arises from the minor salivary glands. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. tmpaxzxjjyw_mondo_relaxed.owl adenoid cystic carcinoma of the minor salivary gland|minor salivary gland adenoid cystic carcinoma|adenoid cystic carcinoma of minor salivary gland UMLS:C1334769|NCIT:C5936 owl:Class UBERON:0001830 biolink:NamedThing minor salivary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005740 biolink:NamedThing mitochondrial envelope The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013149 biolink:NamedThing hindbrain vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013160 biolink:NamedThing epithalamus ventricular layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001899 biolink:NamedThing epithalamus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003515 biolink:NamedThing fallopian tube teratoma A teratoma that arises from the fallopian tube. It is a rare tumor, often found incidentally. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube teratoma NCIT:C40131|DOID:5564|UMLS:C1517127 owl:Class GO:0043401 biolink:NamedThing steroid hormone mediated signaling pathway A series of molecular signals mediated by a steroid hormone binding to a receptor. tmpaxzxjjyw_mondo_relaxed.owl steroid hormone mediated signalling owl:Class UBERON:0018691 biolink:NamedThing ventral side of post-anal tail tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100319 biolink:NamedThing COVID-19–associated multisystem inflammatory syndrome in adults A inflammatory syndrome in adults infected by the SARS-CoV-2 with severe illness requiring hospitalization in a person aged ≥21 years; a positive test result for current or previous SARS-CoV-2 infection (nucleic acid, antigen, or antibody) during admission or in the previous 12 weeks; severe dysfunction of one or more extrapulmonary organ systems (e.g., hypotension or shock, cardiac dysfunction, arterial or venous thrombosis or thromboembolism, or acute liver injury); laboratory evidence of severe inflammation (e.g., elevated CRP, ferritin, D-dimer, or interleukin-6); and absence of severe respiratory illness (to exclude patients in which inflammation and organ dysfunction might be attributable simply to tissue hypoxia). tmpaxzxjjyw_mondo_relaxed.owl MIS-A http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0000993 biolink:NamedThing oviduct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000474 biolink:NamedThing female reproductive system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018160 biolink:NamedThing hereditary retinoblastoma An inherited malignant tumor that originates in the nuclear layer of the retina. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. tmpaxzxjjyw_mondo_relaxed.owl RB1|hereditary retinoblastoma|familial retinoblastoma OMIM:180200|ICD10:C69.2|DOID:4648|NCIT:C8495|Orphanet:357027|MESH:D012175 https://github.com/monarch-initiative/mondo/issues/2760#issuecomment-894549526 owl:Class HGNC:9884 biolink:NamedThing RB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012724 biolink:NamedThing familial cold autoinflammatory syndrome 2 An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month. tmpaxzxjjyw_mondo_relaxed.owl familial cold autoinflammatory syndrome caused by mutation in NLRP12|NAPS12|NLRP12-associated hereditary periodic fever syndrome|familial cold autoinflammatory syndrome type 2|FCAS2|familial cold autoinflammatory syndrome 2|NALP12-associated hereditary periodic fever syndrome|NLRP12 familial cold autoinflammatory syndrome UMLS:C2673198|OMIM:611762|Orphanet:247868|DOID:0090063|UMLS:C3897034|ICD10:E85.0|MESH:C567090|NCIT:C119043 owl:Class HGNC:22938 biolink:NamedThing NLRP12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018444 biolink:NamedThing female infertility due to fertilization defect tmpaxzxjjyw_mondo_relaxed.owl rare female infertility due to oocyte maturation defect|female infertility due to fecundation defect|rare female infertility due to oocyte maturation 2022-03-01 ICD10:N97.8|Orphanet:404469 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: female infertility' MONDO_0021124 owl:Class MONDO:0016821 biolink:NamedThing shoulder and girdle defects-familial intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl shoulder girdle defect mental retardation familial|shoulder girdle defect intellectual disability familial Orphanet:2580|GARD:0004860|UMLS:CN227007|ICD10:Q87.2 owl:Class MONDO:0021081 biolink:NamedThing anti-NMDA receptor encephalitis An autoimmune acute encephalitis caused by antibodies against the glutamate NMDA receptor. It usually affects females and in the majority of cases it is associated with the presence of a tumor, most commonly an ovarian teratoma. The presence of a tumor in patients with this form of encephalitis implies that the latter is a paraneoplastic syndrome. It is manifested with psychiatric symptoms and epileptic seizures. It is a potentially lethal disorder; however, it is usually reversible with the prompt removal of the tumor. tmpaxzxjjyw_mondo_relaxed.owl anti-NMDA receptor encephalitis NCIT:C94853|MESH:D060426 owl:Class GO:0004972 biolink:NamedThing NMDA glutamate receptor activity An cation channel that opens in response to binding by extracellular glutmate, but only if glycine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages. tmpaxzxjjyw_mondo_relaxed.owl N-methyl-D-aspartate selective glutamate receptor activity|NMDA receptor owl:Class HGNC:9045 biolink:NamedThing PLAG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903649 biolink:NamedThing regulation of cytoplasmic transport Any process that modulates the frequency, rate or extent of cytoplasmic transport. tmpaxzxjjyw_mondo_relaxed.owl regulation of cytoplasmic streaming owl:Class MONDO:0015665 biolink:NamedThing scleromyxedema Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation. tmpaxzxjjyw_mondo_relaxed.owl generalized papular and sclerodermoid lichen myxedematosus|Scleromyxedema|generalized papular and sclerodermoid|scleromyxoedema|Arndt-Gottron disease|mucinosis, papular|myxedematosus, lichen|papular mucinosis|generalized lichenoid papular eruption|lichen myxedematosus MedDRA:10055046|Orphanet:167635|ICD10:L98.5|SCTID:402468007|GARD:0007615|UMLS:C0263390|NCIT:C85061|ICD9:701.8|MESH:D053718|UMLS:CN200092 https://rarediseases.info.nih.gov/diseases/7615/scleromyxedema owl:Class PATO:0001566 biolink:NamedThing distributed A spatial pattern inhering in a bearer by virtue of the bearer's being spread out or scattered about or divided up. tmpaxzxjjyw_mondo_relaxed.owl diffuse|scattered owl:Class MONDO:0009738 biolink:NamedThing sialidosis type 2 A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations. tmpaxzxjjyw_mondo_relaxed.owl cherry Red spot--myoclonus syndrome|Neu1 deficiency|mucolipidosis I|mucolipidosis 1|neuraminidase deficiency|Neu deficiency|dysmorphic sialidosis with renal involvement|ML 1|mucolipidosis type 1|neuraminidase 1 deficiency|dysmorphic sialidosis|sialidosis|glycoprotein neuraminidase deficiency|sialidosis type II|Neug deficiency|ML1|myoclonus--cherry Red spot syndrome|sialidosis, type 2|sialidosis, type 1|infantile dysmorphic sialidosis|nephrosialidosis|NEU 1 deficiency|NEU1 sialidosis|lipomucopolysaccharidosis|mucolipidosis type I|glycoproteinosis|sialidosis, type II|sialidosis caused by mutation in NEU1|sialidase deficiency MESH:C562606|DOID:3343|SCTID:52186006|NCIT:C61267|UMLS:C3888317|GARD:0007183|UMLS:C0268232|OMIM:256150|SCTID:81896006|Orphanet:812|UMLS:C0026697|UMLS:C0023806|ICD10:E77.1|NCIT:C125596|SCTID:70528007|UMLS:CN206285|Orphanet:87876|OMIM:256550 https://github.com/monarch-initiative/monarch-disease-ontology/issues/227 owl:Class MONDO:0009835 biolink:NamedThing subacute sclerosing panencephalitis Subacute sclerosing panencephalitis (SSPE) is a chronic progressive encephalitis that develops a few years after measles infection and presents with a demyelination of the cerebral cortex. tmpaxzxjjyw_mondo_relaxed.owl panencephalitis, SUBACUTE sclerosing|Van Bogaert encephalitis|subacute sclerosing panencephalitis|Van Bogaert disease|Immunosuppressive measles encephalitis|Van Bogaert's sclerosing leukoencephalitis|Dawson disease|Subacute sclerosing leukoencephalitis|Subacute inclusion body encephalitis|Subacute sclerosing panencephalitis (disorder) [ambiguous]|Subacute sclerosing panencephalitis|Dawson's encephalitis|Dawson encephalitis|SSPE|subacute sclerosing leukoencephalopathy GARD:0007708|Orphanet:2806|ICD10:A81.1|NCIT:C85171|MESH:D013344|DOID:8970|OMIM:260470|EFO:0007502|ICD9:046.2|UMLS:C0038522 https://rarediseases.info.nih.gov/diseases/7708/subacute-sclerosing-panencephalitis owl:Class NCBITaxon:11234 biolink:NamedThing Measles morbillivirus tmpaxzxjjyw_mondo_relaxed.owl Cell-associated subacute sclerosing panencephalitis|subacute sclerose panencephalitis virus|subacute sclerosing panencephalitis virus, SSPEV|Measles virus|rubeola virus|measles virus MV|rougeole virus|Subacute sclerosing panencephalitis virus GC_ID:1 NCBITaxon:11230 ncbi_taxonomy owl:Class MONDO:0018852 biolink:NamedThing achromatopsia Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. tmpaxzxjjyw_mondo_relaxed.owl Pingelapese blindness|total color blindness|Rod monochromacy|achromatopsia|complete or incomplete color blindness|ACHM|Rod monochromatism|monochromatism DOID:13911|OMIM:610024|OMIM:613856|UMLS:C0152200|SCTID:102450007|ICD9:368.54|MedDRA:10000454|NCIT:C84528|Orphanet:49382|OMIM:262300|OMIM:616517|OMIM:216900|ICD10:H53.51|OMIM:613093|ICD10:H53.5 Editor note: we include incomplete forms here, such as BCM owl:Class HP:0000646 biolink:NamedThing Amblyopia Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. tmpaxzxjjyw_mondo_relaxed.owl Wandering eyes|Lazy eye|Wandering eye UMLS:C0002418|MSH:D000550|SNOMEDCT_US:387742006 Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes. human_phenotype owl:Class MONDO:0010260 biolink:NamedThing arthrogryposis, congenital, lower limb, X-linked tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis, congenital, LOWER limb, X-linked|ACLLX|arthrogryposis, X-linked, type V, formerly|arthrogryposis, X-linked, type V UMLS:C1846273|OMIM:300158|MESH:C564574 owl:Class ECTO:0000002 biolink:NamedThing exposure to electromagnetic radiation A exposure event involving the interaction of an exposure receptor to electromagnetic radiation. tmpaxzxjjyw_mondo_relaxed.owl electromagnetic radiation exposure owl:Class MONDO:0014658 biolink:NamedThing severe achondroplasia-developmental delay-acanthosis nigricans syndrome Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3). tmpaxzxjjyw_mondo_relaxed.owl severe achondroplasia with developmental delay and acanthosis nigricans|SADDAN|SADDAN dysplasia|achondroplasia, severe, with developmental delay and acanthosis nigricans url:https://ghr.nlm.nih.gov/condition/saddan|PMID:10053006|ICD10:Q77.4|ICD9:783.40|SCTID:699870002|Orphanet:85165|GARD:0009443|ICD9:757.39|OMIM:616482|DOID:0111158 owl:Class MONDO:0011193 biolink:NamedThing cone dystrophy 3 Any cone dystrophy in which the cause of the disease is a mutation in the GUCA1A gene. tmpaxzxjjyw_mondo_relaxed.owl GUCA1A cone dystrophy|cone-rod dystrophy 14|cone dystrophy type 3|cone dystrophy caused by mutation in GUCA1A|cone dystrophy 3|retinal cone dystrophy|COD3 UMLS:C1865869|OMIM:602093|Orphanet:1872|Orphanet:1871|DOID:0080314 owl:Class HGNC:4678 biolink:NamedThing GUCA1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012545 biolink:NamedThing neutral lipid storage myopathy tmpaxzxjjyw_mondo_relaxed.owl neutral lipid storage disease with myopathy|neutral lipid storage disease with myopathy without ichthyosis|triglyceride deposit cardiomyovasculopathy|neutral lipid storage disease without ichthyosis|NLSDM ICD10:E75.5|Orphanet:98908|GARD:0010288|OMIM:610717|SCTID:699315005 owl:Class HGNC:30802 biolink:NamedThing PNPLA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006351 biolink:NamedThing transcription, DNA-templated The cellular synthesis of RNA on a template of DNA. tmpaxzxjjyw_mondo_relaxed.owl transcription|DNA-dependent transcription|cellular transcription|cellular transcription, DNA-dependent|transcription regulator activity|transcription, DNA-dependent owl:Class MONDO:0008154 biolink:NamedThing osteomas of mandible tmpaxzxjjyw_mondo_relaxed.owl osteomas of mandible MESH:C563485|OMIM:166400|UMLS:C1833733 owl:Class OBO:CHR_9606-chr20p13 biolink:NamedThing 20p13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 5100000 0 hg38 owl:Class MONDO:0007762 biolink:NamedThing hyperlipoproteinemia type V A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma chylomicrons and triglycerides contained in very-low-density lipoproteins. Type V hyperlipoproteinemia is often associated with diabetes mellitus and is not caused by reduced lipoprotein lipase activity as in hyperlipoproteinemia type I. tmpaxzxjjyw_mondo_relaxed.owl hyperlipidemia type V|hyperlipoproteinemia, type 5|major hyperlipidemia|hyperlipemia, combined fat and carbohydrate-induced|hyperchylomicronemia with Hyperprebetalipoproteinemia, familial|hyperlipoproteinemia, type V|familial type 5 hyperlipoproteinemia|Fredrickson type V lipaemia|hyperchylomicronemia late onset|familial hyperlipoproteinemia type V|hyperlipemia combined fat and carbohydrate-induced|HLP type 5|type V hyperlipoproteinemia|hyperlipemia, mixed|hyperlipoproteinemia type 5|hyperlipidemia, type 5|hyperchylomicronemia, late-onset|hyperlipemia mixed|mixed hyperlipemia MESH:D006954|DOID:1171|SCTID:34349009|NCIT:C35645|OMIM:144650|ICD10:E78.3|Orphanet:70470|MedDRA:10060755|GARD:0006704 https://rarediseases.info.nih.gov/diseases/6704/hyperlipoproteinemia-type-5 owl:Class HGNC:17288 biolink:NamedThing APOA5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010760 biolink:NamedThing supraglenoid tubercle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006633 biolink:NamedThing coracoid process of scapula tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014456 biolink:NamedThing autosomal recessive severe congenital neutropenia due to JAGN1 deficiency tmpaxzxjjyw_mondo_relaxed.owl neutropenia, severe congenital, 6, autosomal recessive|SCN6 ICD10:D70|UMLS:C4014954|Orphanet:423384|OMIM:616022 owl:Class HGNC:26926 biolink:NamedThing JAGN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013923 biolink:NamedThing microcephaly 9, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene. tmpaxzxjjyw_mondo_relaxed.owl microcephaly 9, primary, autosomal recessive|CEP152 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in CEP152|MCPH9 UMLS:C3553886|OMIM:614852|DOID:0070292 owl:Class HGNC:29298 biolink:NamedThing CEP152 tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001393 biolink:NamedThing euploid A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:23657 biolink:NamedThing GNE tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001680 biolink:NamedThing gaseous front A fluid front which is composed primarily of gaseous material and separates at least two gaseous masses. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002831 biolink:NamedThing regulation of response to biotic stimulus Any process that modulates the frequency, rate, or extent of a response to biotic stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009624 biolink:NamedThing microcephaly and chorioretinopathy 1 An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy. tmpaxzxjjyw_mondo_relaxed.owl Pseudotoxoplasmosis syndrome|microcephaly and chorioretinopathy, autosomal recessive, type 1|microcephaly and chorioretinopathy caused by mutation in TUBGCP6|microcephaly and chorioretinopathy 1|MCCRP1|autosomal recessive chorioretinopathy-microcephaly syndrome|autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome|microcephaly and chorioretinopathy type 1|microcephaly and chorioretinopathy, autosomal recessive, 1|TUBGCP6 microcephaly and chorioretinopathy NCIT:C129306|DOID:0080105|OMIM:616335|ICD10:Q87.8|Orphanet:2518|OMIM:251270 owl:Class MONDO:0001251 biolink:NamedThing chronic apical periodontitis Chronic form of periapical periodontitis. tmpaxzxjjyw_mondo_relaxed.owl periapical periodontitis, chronic|chronic periapical periodontitis DOID:11269|ICD9:522.6|SCTID:718052004|UMLS:C0392492|ICD10:K04.5 owl:Class MONDO:0015795 biolink:NamedThing undifferentiated embryonal sarcoma of the liver Embryonal sarcoma of the liver is a rare primary malignant hepatic neoplasm of childhood of mesenchymal origin. It can rarely occur in adults. It is characterized by abdominal mass, right upper quadrant or epigastric pain, nausea, anorexia, intermittent fever or headache. tmpaxzxjjyw_mondo_relaxed.owl embryonal sarcoma of the liver|UES|undifferentiated sarcoma of the liver Orphanet:178315|ONCOTREE:UESL|SCTID:716648006 owl:Class MONDO:0010171 biolink:NamedThing Usher syndrome type 1C A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding harmonin on chromosome 11p15. It is inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl USH1C|USHER syndrome, type IC|Usher syndrome, Acadian variety|Usher syndrome type 1C|Usher syndrome type IC|Usher syndrome, type I, Acadian variety|Usher syndrome type I Acadian variety|Usher syndrome, type 1C OMIM:276904|ICD10:H35.5|GARD:0005437|DOID:0110830|Orphanet:231169|UMLS:C1848604|Orphanet:886 https://rarediseases.info.nih.gov/diseases/5437/usher-syndrome-type-1c owl:Class HGNC:12597 biolink:NamedThing USH1C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017985 biolink:NamedThing congenital radioulnar synostosis Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living. tmpaxzxjjyw_mondo_relaxed.owl radioulnar synostosis|radioulnar synostosis (disease)|proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius|radial-ulnar synostosis|radio-ulnar synostosis|radioulnar fusion|radio-ulnar synostosis type 1 ICD10:Q74.0|OMIM:179300|GARD:0010876|MESH:C562408|SCTID:33313004|HP:0002974|ICD9:755.53|GARD:0004630|DOID:9827|Orphanet:3269 owl:Class MONDO:0018715 biolink:NamedThing congenital hemangioma A hemangioma present and fully formed at birth. The different types are Rapidly involuting congenital hemangiomas (RICH), Partially involuting congenital hemangioma (PICH) and Non-involuting congenital hemangiomas (NICH). tmpaxzxjjyw_mondo_relaxed.owl congenital hemangioma|congenital angioma UMLS:C0235753|NCIT:C3841|SCTID:32361000119104|Orphanet:458775 Editor note: this is distinct from inflantile hemangioma owl:Class MONDO:0015017 biolink:NamedThing anterior segment dysgenesis 8 Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene. tmpaxzxjjyw_mondo_relaxed.owl anterior segment dysgenesis caused by mutation in CPAMD8|anterior segment dysgenesis type 8|CPAMD8 anterior segment dysgenesis|ASGD8|anterior segment dysgenesis 8 DOID:0080613|OMIM:617319|UMLS:C4310622 owl:Class HGNC:23228 biolink:NamedThing CPAMD8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011596 biolink:NamedThing future lower lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008747 biolink:NamedThing oculocutaneous albinism type 3 Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population. tmpaxzxjjyw_mondo_relaxed.owl oculocutaneous albinism type 3|Red oculocutaneous albinism|albinism, oculocutaneous, type 3|oculocutaneous albinism type III|Xanthism|albinism 3|albinism, oculocutaneous, type III|rufous OCA|xanthous oculocutaneous albinism|ROCA|oculocutaneous albinism caused by mutation in TYRP1|oculocutaneous albinism, type 3|OCA3|rufous oculocutaneous albinism|TYRP1 oculocutaneous albinism SCTID:63450009|ICD10:E70.3|DOID:0070097|MESH:C537731|ICD9:270.2|GARD:0004039|Orphanet:79433|OMIM:203290|GARD:0009641 owl:Class HGNC:12450 biolink:NamedThing TYRP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012512 biolink:NamedThing fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 3|fatal mitochondrial disease due to COXPD3|encephalomyopathy, respiratory failure, and lactic acidosis|TSFM combined oxidative phosphorylation deficiency|COXPD3|combined oxidative phosphorylation deficiency caused by mutation in TSFM|concentric cardiomyopathy, hypotonia, and lactic acidosis|combined oxidative phosphorylation deficiency 3 SCTID:720951008|OMIM:610505|MESH:C566467|DOID:0111486|Orphanet:168566|ICD10:E88.8 owl:Class UBERON:0000458 biolink:NamedThing endocervix tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000680 biolink:NamedThing polluted lake A lake which has concentrations of environmental contaminants high enough to harm the ecosystems associated with it. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002047 biolink:NamedThing pontine raphe nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003023 biolink:NamedThing pontine tegmentum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010238 biolink:NamedThing hearing loss, X-linked 4 Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the SMPX gene. tmpaxzxjjyw_mondo_relaxed.owl SMPX X-linked nonsyndromic deafness|deafness, X-linked 6, progressive|X-linked nonsyndromic deafness caused by mutation in SMPX|deafness, nonsyndromic sensorineural progressive 6|DFNX4|deafness, X-linked 4|deafness, X-linked type 4 DOID:0111735|UMLS:C1848204|Orphanet:90625|OMIM:300066|MESH:C564723 owl:Class HGNC:11122 biolink:NamedThing SMPX tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010894 biolink:NamedThing keratinous tooth tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045095 biolink:NamedThing keratin filament A filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. The keratins are the most diverse classes of IF proteins, with a large number of keratin isoforms being expressed. Each type of epithelium always expresses a characteristic combination of type I and type II keratins. tmpaxzxjjyw_mondo_relaxed.owl basic/neutral keratin|acidic keratin owl:Class CL:0000573 biolink:NamedThing retinal cone cell One of the two photoreceptor cell types in the vertebrate retina. In cones the photopigment is in invaginations of the cell membrane of the outer segment. Cones are less sensitive to light than rods, but they provide vision with higher spatial and temporal acuity, and the combination of signals from cones with different pigments allows color vision. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-0866|BTO:0001036|FMA:67748 cell owl:Class UBERON:0001789 biolink:NamedThing outer nuclear layer of retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008730 biolink:NamedThing congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension. tmpaxzxjjyw_mondo_relaxed.owl 17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete|17-Alpha-Hydroxylase deficiency|combined 17-hydroxylase/17,20-lyase deficiency|congenital adrenal hyperplasia type 5|adrenal hyperplasia 5|17,20-lyase deficiency, isolated|17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial|CAH due to 17-alpha-hydroxylase deficiency|adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency ICD9:277.6|ICD10:E25.0|Orphanet:90793|GARD:0001469|SCTID:124220008|Orphanet:418|OMIM:202110 https://rarediseases.info.nih.gov/diseases/1469/17-alpha-hydroxylase-deficiency owl:Class NCBITaxon:36087 biolink:NamedThing Trichuris trichiura tmpaxzxjjyw_mondo_relaxed.owl human whipworm GC_ID:1 ncbi_taxonomy owl:Class CL:0000557 biolink:NamedThing granulocyte monocyte progenitor cell A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1. tmpaxzxjjyw_mondo_relaxed.owl GMP|granulocyte/monocyte progenitor|granulocyte-macrophage progenitor|CFU-GM|granulocyte/monocyte precursor|colony forming unit granulocyte macrophage|CFU-C , Colony forming unit in culture Originally described in the dendritic cell ontology (DC_CL:0000042)(PMID:19243617). GMPs are reportedly CD16-positive, CD32-positive, CD34-positive, CD38-positive, CD45RA-positive, CD110-negative, CD117-positive, CD123-positive, and SCA1-negative. cell owl:Class CHEBI:26167 biolink:NamedThing polar amino acid Any amino acid whose side chain is capable of forming one or more hydrogen bonds. tmpaxzxjjyw_mondo_relaxed.owl polar amino-acid|polar amino-acids|polar amino acids|polar amino acid owl:Class CHEBI:62031 biolink:NamedThing polar amino acid zwitterion Zwitterionic form of a polar amino acid having an anionic carboxy group and a protonated amino group. tmpaxzxjjyw_mondo_relaxed.owl a polar amino acid owl:Class MONDO:0013895 biolink:NamedThing Adams-Oliver syndrome 3 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene. tmpaxzxjjyw_mondo_relaxed.owl AOS3|RBPJ Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in RBPJ|Adams-Oliver syndrome type 3|Adams-Oliver syndrome 3 Orphanet:974|UMLS:C3553748|OMIM:614814 owl:Class HGNC:5724 biolink:NamedThing RBPJ tmpaxzxjjyw_mondo_relaxed.owl owl:Class NBO:0000612 biolink:NamedThing communication behavior "A social behavior related to the activity of conveying information." [wikipedia:Communication] tmpaxzxjjyw_mondo_relaxed.owl communicating|signal exchange owl:Class UBERON:0011222 biolink:NamedThing intra-ocular muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003335 biolink:NamedThing serosa of colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003697 biolink:NamedThing abdominal wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014531 biolink:NamedThing amyotrophic lateral sclerosis type 22 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TUBA4A gene. tmpaxzxjjyw_mondo_relaxed.owl ALS 22|amyotrophic lateral sclerosis type 22|amyotrophic lateral sclerosis caused by mutation in TUBA4A|amyotrophic lateral sclerosis 22 with or without frontotemporal dementia|ALS22|amyotrophic lateral sclerosis 22|TUBA4A amyotrophic lateral sclerosis OMIM:616208|Orphanet:803|UMLS:C4015512|DOID:0060355 owl:Class MONDO:0003940 biolink:NamedThing Kummell disease A disease that presents as vertebral osteonecrosis typically affecting a thoracic vertebra with compression deformity, intravertebral vacuum cleft, and exaggerated kyphosis weeks to months after a minor traumatic injury. tmpaxzxjjyw_mondo_relaxed.owl bony vertebral centrum osteonecrosis|traumatic spondylopathy|Kummell's disease|avascular necrosis of a vertebral body|Kummell disease|osteonecrosis of bony vertebral centrum|Kummell's spondylitis ICD10:M48.3|DOID:6603|ICD9:721.7|SCTID:111232005|UMLS:C0152088 owl:Class UBERON:0001075 biolink:NamedThing bony vertebral centrum tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0097060 biolink:NamedThing synaptic membrane A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0097485 biolink:NamedThing neuron projection guidance The process in which the migration of a neuron projection is directed to a specific target site in response to a combination of attractive and repulsive cues. tmpaxzxjjyw_mondo_relaxed.owl neurite guidance|neuron protrusion guidance|neuron process guidance|neuronal cell projection guidance owl:Class GO:0048812 biolink:NamedThing neuron projection morphogenesis The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites. tmpaxzxjjyw_mondo_relaxed.owl neurite biosynthesis|neurite formation|neurite growth|neurite morphogenesis owl:Class MONDO:0012656 biolink:NamedThing lethal congenital contracture syndrome 3 Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement. tmpaxzxjjyw_mondo_relaxed.owl multiple contracture syndrome, Israeli Bedouin type B|lethal congenital contracture syndrome type 3|LCCS3|Israeli Bedouin type B multiple contracture syndrome|PIP5K1C lethal congenital contracture syndrome|lethal congenital contracture syndrome caused by mutation in PIP5K1C|lethal congenital contracture syndrome 3 SCTID:715420005|DOID:0060653|ICD10:Q68.8|GARD:0012644|UMLS:C1969655|MESH:C566961|Orphanet:137783|OMIM:611369|OMIM:614915|UMLS:C4275144 https://rarediseases.info.nih.gov/diseases/12644/lethal-congenital-contracture-syndrome-3 owl:Class MONDO:0013071 biolink:NamedThing Emery-Dreifuss muscular dystrophy 4, autosomal dominant Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene. tmpaxzxjjyw_mondo_relaxed.owl EMERY-Dreifuss muscular dystrophy 4, autosomal dominant|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1|EDMD4|SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy|Emery-Dreifuss muscular dystrophy 4 with variable features|Emery-Dreifuss muscular dystrophy 4, autosomal dominant UMLS:C2751807|DOID:0070249|MESH:C567831|Orphanet:261|Orphanet:98853|OMIM:612998 owl:Class UBERON:0001183 biolink:NamedThing inferior mesenteric artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010376 biolink:NamedThing pancreas ventral primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003921 biolink:NamedThing pancreas primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018247 biolink:NamedThing cervical thymic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009114 biolink:NamedThing cervical thymus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904729 biolink:NamedThing regulation of intestinal lipid absorption Any process that modulates the frequency, rate or extent of intestinal lipid absorption. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013033 biolink:NamedThing cerebral palsy, spastic quadriplegic, 2 Any spastic quadriplegia in which the cause of the disease is a mutation in the KANK1 gene. tmpaxzxjjyw_mondo_relaxed.owl CPSQ2|KANK1 spastic quadriplegia|cerebral palsy, spastic quadriplegic, type 2|spastic quadriplegia caused by mutation in KANK1|cerebral palsy, spastic quadriplegic, 2 UMLS:C2752061|MESH:C567867|OMIM:612900|Orphanet:210141 owl:Class HGNC:19309 biolink:NamedThing KANK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4298 biolink:NamedThing GLB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010394 biolink:NamedThing lymphocyte domain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018204 biolink:NamedThing 20q11.2 microduplication syndrome 20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptororchidism are often associated features. tmpaxzxjjyw_mondo_relaxed.owl dup(20)(q11.2) ICD10:Q93.5|UMLS:CN204718|SCTID:763061004|Orphanet:363659 owl:Class OBO:CHR_9606-chr20q11.2 biolink:NamedThing 20q11.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 39000000 30400000 hg38 owl:Class UBERON:8410032 biolink:NamedThing trabecular sinus of lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002195 biolink:NamedThing trabecula of lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0070002 biolink:NamedThing basket cell morphology A cell morphology that inheres in multipolar neurons with densely branched terminal axonal arborizations that form basket-like structures surrounding and synapsing to the somas of target cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004879 biolink:NamedThing nuclear receptor activity A DNA-binding transcription factor activity regulated by binding to a ligand that modulates the transcription of specific gene sets transcribed by RNA polymerase II. Nuclear receptor ligands are usually lipid-based (such as a steroid hormone) and the binding of the ligand to its receptor often occurs in the cytoplasm, which leads to its tranlocation to the nucleus. tmpaxzxjjyw_mondo_relaxed.owl glucocorticoid receptor activity|nuclear receptor activity|nuclear hormone receptor|1,25-(OH)2D3 receptor activity|ligand-dependent transcription factor activity|RXR|vitamin D3 receptor activity|vitamin A receptor activity|RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA binding|androgen receptor activity|RNA polymerase II transcription factor activity, glucocorticoid-activated sequence-specific DNA binding|calcitriol receptor activity|vitamin D receptor activity|ecdysteroid hormone receptor activity|estrogen nuclear receptor activity|thyroid hormone receptor activity|juvenile hormone receptor activity|9-cis retinoic acid receptor activity|retinoid-X receptor activity|retinoic acid receptor activity|ligand-dependent nuclear receptor activity|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity|RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding owl:Class GO:0030522 biolink:NamedThing intracellular receptor signaling pathway Any series of molecular signals initiated by a ligand binding to an receptor located within a cell. tmpaxzxjjyw_mondo_relaxed.owl intracellular receptor mediated signaling pathway|intracellular receptor-mediated signalling pathway|intracellular receptor-mediated signaling pathway owl:Class UBERON:0011757 biolink:NamedThing differentiated genital tubercle tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0003330 biolink:NamedThing regulation of extracellular matrix constituent secretion Any process that modulates the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070278 biolink:NamedThing extracellular matrix constituent secretion The controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell. tmpaxzxjjyw_mondo_relaxed.owl ECM secretion|ECM constituent secretion owl:Class GO:0006144 biolink:NamedThing purine nucleobase metabolic process The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. tmpaxzxjjyw_mondo_relaxed.owl purine base metabolism|purine metabolism|purine base metabolic process|purine metabolic process owl:Class MONDO:0023122 biolink:NamedThing familial prostate carcinoma Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma. tmpaxzxjjyw_mondo_relaxed.owl hereditary prostate cancer|familial prostate cancer|prostate cancer, familial|prostate cancer, hereditary|hereditary prostate carcinoma UMLS:C2931456|NCIT:C103817|UMLS:CN036094|Orphanet:1331|OMIM:601518|SCTID:715412008|OMIM:176807|GTR:AN0101369|GARD:0004520|GTR:AN0101368 Editor note: check OMIM https://rarediseases.info.nih.gov/diseases/4520/familial-prostate-cancer owl:Class GO:0007049 biolink:NamedThing cell cycle The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. tmpaxzxjjyw_mondo_relaxed.owl cell-division cycle owl:Class MONDO:0016708 biolink:NamedThing embryonal tumor of neuroepithelial tissue tmpaxzxjjyw_mondo_relaxed.owl Orphanet:251852|UMLS:CN201955 owl:Class GO:0071626 biolink:NamedThing mastication The process of biting and mashing food with the teeth prior to swallowing. tmpaxzxjjyw_mondo_relaxed.owl chewing owl:Class MONDO:0033948 biolink:NamedThing acquired angioedema with C1Inh deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:528663 owl:Class MONDO:0027751 biolink:NamedThing serpinopathy with loss of serpin function tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:250811 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: serpinopathy MONDO_0027749 owl:Class MONDO:0013756 biolink:NamedThing hypertrophic osteoarthropathy, primary, autosomal recessive, 2 Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the SLCO2A1 gene. tmpaxzxjjyw_mondo_relaxed.owl primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1|pachydermoperiostosis, autosomal recessive|hypertrophic osteoarthropathy, primary, autosomal recessive, 2|hypertrophic osteoarthropathy, primary, autosomal recessive, type 2|SLCO2A1 primary hypertrophic osteoarthropathy|PHOAR2|PDP, autosomal recessive OMIM:614441|Orphanet:2796|UMLS:C3280800 owl:Class HGNC:10955 biolink:NamedThing SLCO2A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16p12.1 biolink:NamedThing 16p12.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 28500000 24200000 hg38 owl:Class MONDO:0002326 biolink:NamedThing alcohol-induced mental disorder tmpaxzxjjyw_mondo_relaxed.owl ICD9:291.89|DOID:251|ICD9:291.8 owl:Class ECTO:0001082 biolink:NamedThing exposure to alcohol consumption An exposure event involving Alcohol Consumption tmpaxzxjjyw_mondo_relaxed.owl Alcohol Consumption exposure owl:Class NCBITaxon:7164 biolink:NamedThing Anopheles tmpaxzxjjyw_mondo_relaxed.owl Anopheles GC_ID:1 ncbi_taxonomy owl:Class UBERON:0013525 biolink:NamedThing stomach lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018481 biolink:NamedThing undifferentiated carcinoma of esophagus An esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation. tmpaxzxjjyw_mondo_relaxed.owl undifferentiated esophageal cancer|esophagus undifferentiated carcinoma|esophageal undifferentiated carcinoma|undifferentiated esophageal carcinoma ICD10:C15.4|NCIT:C27422|UMLS:CN237469|ICD10:C15.0|ICD10:C15.2|ICD10:C15.8|ICD10:C15.1|ICD10:C15.3|UMLS:C2188058|ICD10:C15.5|Orphanet:418951 owl:Class GO:0043025 biolink:NamedThing neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. tmpaxzxjjyw_mondo_relaxed.owl neuron cell body|neuronal cell soma owl:Class MONDO:0008503 biolink:NamedThing Worster-Drought syndrome Worster-Drought syndrome (WDS) is a form of cerebral palsy characterized by congenital pseudobulbar (suprabulbar) paresis manifesting as selective weakness of the lips, tongue and soft palate, dysphagia, dysphonia, drooling and jaw jerking. tmpaxzxjjyw_mondo_relaxed.owl Worster Drought syndrome|suprabulbar paresis, congenital|Worster-Drought syndrome|suprabulbar paresis congenital|congenital suprabulbar paresis Orphanet:3465|MESH:C536747|OMIM:185480|GARD:0005598|UMLS:C0796204|SCTID:716335003|ICD10:G80.8 https://rarediseases.info.nih.gov/diseases/5598/worster-drought-syndrome owl:Class CL:0002097 biolink:NamedThing cortical cell of adrenal gland A cell of the adrenal cortex. Cell types include those that synthesize and secrete chemical derivatives (steroids) of cholesterol. tmpaxzxjjyw_mondo_relaxed.owl adrenal cortex cell|adrenocortical cell FMA:69545 tmeehan 2010-08-24T01:37:44Z cell owl:Class UBERON:0001235 biolink:NamedThing adrenal cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014614 biolink:NamedThing cervical spinal cord white matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002223 biolink:NamedThing endolymphatic sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006226 biolink:NamedThing endolymphatic appendage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012906 biolink:NamedThing primary ciliary dyskinesia 9 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI2 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in DNAI2|ciliary dyskinesia, primary, type 9|CILD9|primary ciliary dyskinesia 9 with or without situs inversus|ciliary dyskinesia, primary, 9|ciliary dyskinesia, primary, 9, with or without situs inversus|DNAI2 primary ciliary dyskinesia|primary ciliary dyskinesia 9|primary ciliary dyskinesia type 9 ICD10:Q34.8|MESH:C567310|OMIM:612444|DOID:0110622|UMLS:C2676235 owl:Class HGNC:18744 biolink:NamedThing DNAI2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002376 biolink:NamedThing cranial muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:32761 biolink:NamedThing L-tyrosinate(2-) The L-enantiomer of tyrosinate(2-). tmpaxzxjjyw_mondo_relaxed.owl L-tyrosinate|(2S)-2-amino-3-(4-oxidophenyl)propanoate|L-tyrosine dianion|L-tyrosinate(2-) owl:Class MONDO:0014314 biolink:NamedThing sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome tmpaxzxjjyw_mondo_relaxed.owl SAVA|sacral agenesis with vertebral anomalies ICD10:Q87.5|Orphanet:397927|OMIM:615709|UMLS:C3810343 owl:Class HGNC:11515 biolink:NamedThing TBXT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013876 biolink:NamedThing basal cell carcinoma, susceptibility to, 7 Any skin basal cell carcinoma in which the cause of the disease is a mutation in the TP53 gene. tmpaxzxjjyw_mondo_relaxed.owl basal cell carcinoma, susceptibility to, type 7|basal cell carcinoma, susceptibility to, 7|TP53 skin basal cell carcinoma|susceptibility to basal cell carcinoma 7|BCC7|skin basal cell carcinoma caused by mutation in TP53 OMIM:614740 owl:Class UBERON:0004823 biolink:NamedThing intrahepatic bile duct epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002432 biolink:NamedThing CD24-positive, CD4 single-positive thymocyte A CD4-positive, CD8-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor. tmpaxzxjjyw_mondo_relaxed.owl CD24-positive, CD4 single-positive semimature thymocyte|T.4SP24int.Th Described in the immgene database as being CD24-intermediate. tmeehan 2010-10-21T02:43:52Z cell owl:Class MONDO:0011518 biolink:NamedThing Wiedemann-Steiner syndrome Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language. tmpaxzxjjyw_mondo_relaxed.owl hairy elbows, short stature, Facial Dysmorphism, and developmental delay|hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome|Wiedemann-Steiner syndrome|WDSTS|A syndrome of abnormal facies, short stature, and psychomotor retardation|Wiedemann Grosse Dibbern syndrome ICD10:Q87.1|OMIM:605130|Orphanet:319182|MESH:C536704|GARD:0005565 https://rarediseases.info.nih.gov/diseases/5565/wiedemann-steiner-syndrome owl:Class HGNC:7132 biolink:NamedThing KMT2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007411 biolink:NamedThing axon guidance The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. tmpaxzxjjyw_mondo_relaxed.owl axon chemotaxis|axon growth cone guidance|axon pathfinding owl:Class UBERON:0012477 biolink:NamedThing dorsal part of neck tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007646 biolink:NamedThing Gamstorp-Wohlfart syndrome Autosomal recessive axonal neuropathy with neuromyotonia is a rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment. tmpaxzxjjyw_mondo_relaxed.owl neuromyotonia and axonal neuropathy, autosomal recessive|ARAN-NM|NMAN|myokymia, myotonia, and muscle wasting|myokymia, myotonia and muscle wasting|autosomal recessive neuromyotonia and axonal neuropathy|autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia|Gamstorp-Wohlfart syndrome|ARCMT2-NM|autosomal recessive axonal neuropathy with neuromyotonia UMLS:CN074193|OMIM:137200|DOID:0050526|ICD10:G60.0|Orphanet:324442|GARD:0012353|SCTID:711406009 owl:Class HGNC:4912 biolink:NamedThing HINT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004733 biolink:NamedThing segmental subdivision of hindbrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:4469 biolink:NamedThing (S)-amphetamine A 1-phenylpropan-2-amine that has S configuration. tmpaxzxjjyw_mondo_relaxed.owl (+)-(S)-amphetamine|(+)-amphetamine|dexamphetamine|(alphaS)-alpha-methylbenzeneethanamine|(2S)-1-phenylpropan-2-amine|(S)-alpha-methylbenzeneethanamine|d-amphetamine|(S)-(+)-beta-phenylisopropylamine|(+)-alpha-methylphenethylamine|(S)-1-phenyl-2-aminopropane|(S)-amphetamine|(S)-(+)-amphetamine|(S)-1-phenyl-2-propylamine|Dextroamphetamine|(+)-alpha-methylphenylethylamine owl:Class MONDO:0014509 biolink:NamedThing vitelliform macular dystrophy 5 Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene. tmpaxzxjjyw_mondo_relaxed.owl macular dystrophy, vitelliform, 5|macular dystrophy, vitelliform, type 5|IMPG2 vitelliform macular dystrophy|VMD5|vitelliform macular dystrophy caused by mutation in IMPG2 Orphanet:99000|UMLS:C4015343|OMIM:616152 owl:Class MONDO:0014556 biolink:NamedThing congenital contractures of the limbs and face, hypotonia, and developmental delay tmpaxzxjjyw_mondo_relaxed.owl CLIFAHDD|congenital contractures of the limbs and face, hypotonia, and developmental delay EFO:1001868|UMLS:C4225398|OMIM:616266 owl:Class UBERON:0005469 biolink:NamedThing right thymus lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044991 biolink:NamedThing upper digestive tract disorder A disease or disorder that involves the upper digestive tract. tmpaxzxjjyw_mondo_relaxed.owl disease of upper digestive tract|upper digestive tract disease or disorder|upper gastrointestinal tract disease|disease or disorder of upper digestive tract|disorder of upper digestive tract|disorder of upper gastrointestinal tract SCTID:119291004 owl:Class UBERON:0003038 biolink:NamedThing thoracic spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019086 biolink:NamedThing carcinoma of esophagus Esophageal carcinoma (EC) is a tumor arising in the epithelial cells lining the esophagus and can be divided into two subtypes: esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC). tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the esophagus|esophageal cancer|esophageal carcinoma|carcinoma of oesophagus|esophagus carcinoma|cancer of the esophagus|carcinoma of esophagus|cancer of esophagus|cancer of oesophagus|esophageal cancer, NOS DOID:1107|NCIT:C3513|UMLS:C0546837|MedDRA:10030155|UMLS:C0152018|UMLS:C0014859|Orphanet:70482|EFO:0002916|SCTID:372138000 owl:Class MONDO:0018695 biolink:NamedThing avian influenza Infection of domestic and wild fowl and other birds with influenza A virus. Avian influenza usually does not sicken birds, but can be highly pathogenic and fatal in domestic poultry. tmpaxzxjjyw_mondo_relaxed.owl avian flu|bird flu MESH:D005585|EFO:0005222|Orphanet:454836|ICD10:J09.X|UMLS:CN237762|DOID:4492|ICD10:J09|UMLS:C0016627|SCTID:55604004 owl:Class NCBITaxon:11320 biolink:NamedThing Influenza A virus tmpaxzxjjyw_mondo_relaxed.owl Human Influenza A Virus|Influenza virus type A|FLUAV GC_ID:1 ncbi_taxonomy owl:Class HP:0007858 biolink:NamedThing Chorioretinal lacunae Punched out lesions in the pigmented layer of the retina. tmpaxzxjjyw_mondo_relaxed.owl Lacunar retinal depigmentation UMLS:C1844751|UMLS:C4072866 A chorioretinal lacuna can have the appearance of a pseudodisk in the retina. HP:0007786 human_phenotype owl:Class UBERON:0001276 biolink:NamedThing epithelium of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002424 biolink:NamedThing DN2b thymocyte A DN2 thymocyte that is Kit-low. tmpaxzxjjyw_mondo_relaxed.owl Observed in mice. tmeehan 2010-10-21T10:12:08Z cell owl:Class MONDO:0010759 biolink:NamedThing Wildervanck syndrome Wildervanck syndrome is characterized by the triad of cervical vertebral fusion (Klippel-Feil anomaly), bilateral abducens palsy with retracted eyes (Duane syndrome) and congenital perceptive deafness. tmpaxzxjjyw_mondo_relaxed.owl COA syndrome|cervico-oculo-acoustic dysplasia|Cervicooculoacoustic syndrome|Wildervanck syndrome|cervico-oculo-acoustic syndrome GARD:0005569|ICD9:759.89|Orphanet:3456|SCTID:79665007|UMLS:C0265239|MedDRA:10069402|ICD10:Q87.8|OMIM:314600 https://rarediseases.info.nih.gov/diseases/5569/wildervanck-syndrome owl:Class UBERON:0005753 biolink:NamedThing caudal part of nephrogenic cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004875 biolink:NamedThing nephrogenic cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032627 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 23 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23|MC1DN23 OMIM:618244 owl:Class HGNC:23987 biolink:NamedThing NDUFA12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045932 biolink:NamedThing negative regulation of muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of muscle contraction. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of muscle contraction|inhibition of muscle contraction|downregulation of muscle contraction|down regulation of muscle contraction owl:Class GO:0006936 biolink:NamedThing muscle contraction A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002029 biolink:NamedThing epithelium of gall bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002512 biolink:NamedThing corpus luteum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001305 biolink:NamedThing ovarian follicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003453 biolink:NamedThing conjunctival intraepithelial neoplasm tmpaxzxjjyw_mondo_relaxed.owl intraepithelial neoplasia of conjunctiva|conjunctival intraepithelial neoplasia|intraepithelial neoplasia of the conjunctiva|conjunctiva intraepithelial neoplasia NCIT:C6120|UMLS:C1333148|SCTID:418134006|ICD9:239.89|DOID:5465 owl:Class UBERON:0001811 biolink:NamedThing conjunctiva tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004834 biolink:NamedThing hepatic duct smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011630 biolink:NamedThing retinitis pigmentosa 28 Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene. tmpaxzxjjyw_mondo_relaxed.owl FAM161A retinitis pigmentosa|retinitis pigmentosa caused by mutation in FAM161A|retinitis pigmentosa 28|retinitis pigmentosa type 28|RP 28|RP28 OMIM:606068|ICD10:H35.5|GARD:0010394|UMLS:C1419614|DOID:0110365 https://rarediseases.info.nih.gov/diseases/10394/retinitis-pigmentosa-28 owl:Class HGNC:25808 biolink:NamedThing FAM161A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002100 biolink:NamedThing trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002451 biolink:NamedThing benign prostate phyllodes tumor A rare benign neoplasm that arises from the prostate gland and is characterized by the presence of hyperplastic glands and stroma that contains spindle-shaped cells. tmpaxzxjjyw_mondo_relaxed.owl benign phyllodes neoplasm of prostate|benign prostate phyllodes tumor|phyllodes neoplasm of the prostate|benign phyllodes tumor of prostate|benign prostate phyllodes neoplasm|benign phyllodes neoplasm of the prostate|prostate phyllodes tumor, benign|prostate phyllodes tumor|benign phyllodes tumor of the prostate UMLS:C1335409|NCIT:C7574|DOID:2885|UMLS:C1332535|NCIT:C5532 owl:Class MONDO:0007411 biolink:NamedThing cutis laxa, autosomal dominant 1 Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene. tmpaxzxjjyw_mondo_relaxed.owl ADCL1|cutis laxa, autosomal dominant 1|ELN autosomal dominant cutis laxa|autosomal dominant cutis laxa 1|autosomal dominant cutis laxa caused by mutation in ELN|cutis laxa, autosomal dominant type 1 OMIM:123700|DOID:0070130|ICD10:Q82.8|Orphanet:90348|UMLS:C3276539 owl:Class HGNC:3327 biolink:NamedThing ELN tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0009044 biolink:NamedThing lymphocyte of small intestine lamina propria A lymphocyte that resides in the lamina propria of the small intestine. Lamina propria leukocytes and intraepithelial lymphocytes are the effector compartments of the gut mucosal immune system. Lymphocytes circulate through gut associated lymphoid tissues until recruitment by intestinal antigens. They are involved in the gut immune response. tmpaxzxjjyw_mondo_relaxed.owl lamina propria lymphocyte of small intestine|small intestine lamina propria lymphocyte|gastrointestinal tract (lamina propria) lymphocyte of small intestine|small intestine lamina propria leukocyte|small intestine lamina propria leukocyte (LPL)|gastrointestinal tract small intestine (lamina propria) leukocyte owl:Class MONDO:0019740 biolink:NamedThing acquired thrombotic thrombocytopenic purpura Acquired thrombotic thrombocytopenic purpura is the non-hereditary form of thrombotic thrombocytopenic purpura (TTP), characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. tmpaxzxjjyw_mondo_relaxed.owl acquired thrombotic thrombocytopenic purpura|Moschowitz syndrome|acquired ADAMTS13 deficiency|autoimmune thrombotic thrombocytopenic purpura|acquired TTP|idiopathic thrombotic thrombocytopenic purpura|purpura, thrombotic thrombocytopenic|TTP UMLS:C2584777|MESH:C536901|Orphanet:93585|ICD10:M31.3|GARD:0004607|UMLS:C2584778|NCIT:C131653|SCTID:438476003 owl:Class MONDO:0006481 biolink:NamedThing ureter carcinoma A carcinoma that arises from epithelial cells of the ureter. tmpaxzxjjyw_mondo_relaxed.owl ureteral carcinoma|ureter cancer|carcinoma of ureter|ureter carcinoma|carcinoma of the ureter DOID:4939|SCTID:448864006|UMLS:C0600079|EFO:1000609|NCIT:C8993 owl:Class HGNC:7869 biolink:NamedThing NOL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008654 biolink:NamedThing phospholipid biosynthetic process The chemical reactions and pathways resulting in the formation of a phospholipid, a lipid containing phosphoric acid as a mono- or diester. tmpaxzxjjyw_mondo_relaxed.owl phospholipid biosynthesis|phospholipid synthesis|phospholipid anabolism|phospholipid formation owl:Class MONDO:0001325 biolink:NamedThing penile cancer A primary or metastatic malignant neoplasm that affects the penis. Representative examples include penile carcinoma and penile sarcoma. tmpaxzxjjyw_mondo_relaxed.owl malignant penis neoplasm|penile Ca|malignant penile neoplasm|malignant tumor of the penis|malignant penile tumor|malignant neoplasm of body of penis|malignant neoplasm of penis|malignant neoplasm of the penis|penis cancer|penile neoplasm|Ca penis|cancer of penis|penile cancer|malignant tumor of penis UMLS:CN226091|ICD10:C60.8|DOID:11615|ICD10:C60.2|Orphanet:398043|ICD10:C60|ICD9:187.4|NCIT:C7547|ICD10:C60.0|ICD10:C60.1|SCTID:363516004|ICD10:C60.9|MESH:D010412|ICD9:187.3 owl:Class UBERON:0010364 biolink:NamedThing dermal skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001184 biolink:NamedThing algal food product This food product type includes food products which are derived from a large, diverse group of photosynthetic organisms. tmpaxzxjjyw_mondo_relaxed.owl SUBSET_SIREN:F10419 http://langual.org subset_siren owl:Class CHEBI:16277 biolink:NamedThing haloacetic acid A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens has been replaced by a halogen atom. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:85638 biolink:NamedThing haloacetate(1-) A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of a haloacetic acid. tmpaxzxjjyw_mondo_relaxed.owl haloacetate (1-)|a haloacetate owl:Class GO:1900074 biolink:NamedThing negative regulation of neuromuscular synaptic transmission Any process that stops, prevents or reduces the frequency, rate or extent of neuromuscular synaptic transmission. tmpaxzxjjyw_mondo_relaxed.owl down regulation of neuromuscular synaptic transmission|down-regulation of neuromuscular synaptic transmission|downregulation of neuromuscular synaptic transmission|inhibition of neuromuscular synaptic transmission owl:Class UBERON:0005200 biolink:NamedThing thoracic mammary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:30746 biolink:NamedThing benzoic acid A compound comprising a benzene ring core carrying a carboxylic acid substituent. tmpaxzxjjyw_mondo_relaxed.owl Benzoic acid|benzoic acid|acide benzoique|Benzenecarboxylic acid|E210|Benzenemethanoic acid|Phenylformic acid|BENZOIC ACID|Dracylic acid|Benzoesaeure|Aromatic carboxylic acid|Benzeneformic acid|Phenylcarboxylic acid owl:Class CHEBI:88188 biolink:NamedThing drug allergen Any drug which causes the onset of an allergic reaction. tmpaxzxjjyw_mondo_relaxed.owl allergenic drug owl:Class MONDO:0014906 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; An autosomal recessive sub-type of Charcot-Marie-Tooth disease caused by compound heterozygous or homozygous mutation(s) in the MFN2 gene, encoding mitofusin-2. This condition is more severe and has an earlier onset as compared to Charcot-Marie-Tooth disease type 2A2A. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease type 2A2B|CMT2A2B|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B NCIT:C150647|UMLS:C4310725|DOID:0111557|OMIM:617087 owl:Class HGNC:16877 biolink:NamedThing MFN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2202 biolink:NamedThing COL4A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013519 biolink:NamedThing dyskeratosis congenita, autosomal recessive 2 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3. tmpaxzxjjyw_mondo_relaxed.owl DKCB2|dyskeratosis congenita, autosomal recessive type 2|dyskeratosis congenita, autosomal recessive 2|autosomal recessive dyskeratosis congenita 2 OMIM:613987|UMLS:C3151441|DOID:0070017|Orphanet:1775 owl:Class HGNC:14377 biolink:NamedThing NHP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020001 biolink:NamedThing respiratory or thoracic malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:97957 owl:Class MONDO:0017930 biolink:NamedThing mixed sclerosing bone dystrophy with extra-skeletal manifestations tmpaxzxjjyw_mondo_relaxed.owl Orphanet:324364|ICD10:M85.8 owl:Class MONDO:0021018 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6|LGMD1D|LGMD1E|muscular dystrophy, limb-girdle, type 1D, formerly|muscular dystrophy limb-girdle type 1E|muscular dystrophy limb-girdle type 1D|limb-girdle muscular dystrophy type 1D|muscular dystrophy, limb-girdle, type 1D|autosomal dominant limb-girdle muscular dystrophy type 1E|autosomal dominant limb-girdle muscular dystrophy type 1D|DNAJB6 autosomal dominant limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 1E|LGMD1E (Bushby and Beckmann, 2003)|LGMD1D (DNAJB6) Orphanet:34516|UMLS:C3148763|ICD10:G71.0|GARD:0012528|UMLS:C3501858|DOID:0110305|OMIM:603511|MESH:C566370 Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3 owl:Class HGNC:14888 biolink:NamedThing DNAJB6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:59871 biolink:NamedThing D-alpha-amino acid zwitterion Zwitterionic form of a D-alpha-amino acid having an anionic carboxy group and a protonated amino group. tmpaxzxjjyw_mondo_relaxed.owl a D-alpha-amino acid|D-alpha-amino acid zwitterions owl:Class HGNC:801 biolink:NamedThing ATP1A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002135 biolink:NamedThing Basal ganglia calcification The presence of calcium deposition affecting one or more structures of the basal ganglia. tmpaxzxjjyw_mondo_relaxed.owl Calcification of the basal ganglia|Basal ganglion calcification|Basal ganglia calcifications UMLS:C1389280 HP:0002485 human_phenotype owl:Class MONDO:0005797 biolink:NamedThing HIV wasting syndrome Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than hiv infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611). tmpaxzxjjyw_mondo_relaxed.owl Orphanet:90081|MESH:D019247|UMLS:C0343755|EFO:0007312 owl:Class HP:0004326 biolink:NamedThing Cachexia Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. tmpaxzxjjyw_mondo_relaxed.owl Wasting syndrome UMLS:C0006625|MSH:D002100|SNOMEDCT_US:238108007|SNOMEDCT_US:285384003 peter 2008-02-27T03:23:00Z human_phenotype owl:Class UBERON:0000930 biolink:NamedThing stomodeum tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001663 biolink:NamedThing Ventricular fibrillation Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042510|MSH:D014693|SNOMEDCT_US:71908006 HP:0005166 human_phenotype owl:Class MONDO:0004532 biolink:NamedThing auditory system cancer A malignant neoplasm involving the auditory system tmpaxzxjjyw_mondo_relaxed.owl auditory system cancer|malignant auditory system neoplasm|cancer of auditory system|malignant neoplasm of auditory system DOID:833 owl:Class UBERON:0003455 biolink:NamedThing inner renal medulla loop of Henle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001294 biolink:NamedThing inner medulla of kidney tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007566 biolink:NamedThing multiple self-healing squamous epithelioma Multiple self-healing squamous epithelioma (also known as Ferguson-Smith disease (FSD)) is a rare inherited skin cancer syndrome characterized by the development of multiple locally invasive skin tumors resembling keratoacanthomas of the face and limbs which usually heal spontaneously after several months leaving pitted scars. tmpaxzxjjyw_mondo_relaxed.owl familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type|multiple self-healing epithelioma of Ferguson-Smith|ESS1, formerly|multiple self healing epithelioma of Ferguson-Smith|Ferguson-Smith tumor|ESS1|Ferguson-Smith-type epithelioma|Ferguson-Smith disease|ESS1 (formerly)|multiple self-healing squamous epithelioma|multiple self healing squamous epithelioma|Ferguson-Smith type epithelioma|multiple self-healing squamous epithelioma, susceptibility to|MSSE|self-healing squamous epithelioma type 1|multiple keratoacanthoma, Ferguson-Smith type SCTID:254659009|ICD10:C44.3|MESH:C536150|ICD10:C44.6|Orphanet:65748|GARD:0003090|ICD10:C44.7|OMIM:132800|NCIT:C4461|DOID:5585|UMLS:C0345982 https://rarediseases.info.nih.gov/diseases/3090/multiple-self-healing-squamous-epithelioma owl:Class UBERON:8410017 biolink:NamedThing left colic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001215 biolink:NamedThing inferior mesenteric vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002357 biolink:NamedThing hepatic flexure cancer A malignant neoplasm involving the hepatic flexure of colon. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of hepatic flexure|malignant hepatic flexure of colon neoplasm|cancer of hepatic flexure of colon|Ca hepatic flexure - colon|malignant neoplasm of hepatic flexure of colon|malignant tumor of hepatic flexure|hepatic flexure of colon cancer UMLS:C0153433|ICD9:153.0|DOID:260|SCTID:363407001|ICD10:C18.3 owl:Class UBERON:0022277 biolink:NamedThing hepatic flexure of colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016856 biolink:NamedThing Mowat-Wilson syndrome due to a ZEB2 point mutation tmpaxzxjjyw_mondo_relaxed.owl Hirschsprung disease and intellectual disability due to a ZEB2 point mutation Orphanet:261552|UMLS:CN202199|ICD10:Q43.1 owl:Class CHEBI:78675 biolink:NamedThing fundamental metabolite Any metabolite produced by all living cells. tmpaxzxjjyw_mondo_relaxed.owl fundamental metabolites|essential metabolite|essential metabolites owl:Class MONDO:0012762 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 2 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene. tmpaxzxjjyw_mondo_relaxed.owl ventricular tachycardia, catecholaminergic polymorphic, type 2|catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2|CVPT2|CPVT2|catecholaminergic polymorphic ventricular tachycardia type 2|CASQ2 catecholaminergic polymorphic ventricular tachycardia|ventricular tachycardia, stress-induced polymorphic|catecholaminergic polymorphic ventricular tachycardia 2|ventricular tachycardia, catecholaminergic polymorphic, 2 OMIM:611938|ICD10:I47.2|UMLS:C2677794|Orphanet:3286|NCIT:C148368|DOID:0060676 owl:Class HGNC:1513 biolink:NamedThing CASQ2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011431 biolink:NamedThing MASS syndrome A genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individuals symptoms. tmpaxzxjjyw_mondo_relaxed.owl MASS phenotype|overlap connective tissue disease|OCTD|Mitral valve prolapse, Aortic enlargement, Skin and Skeletal findings|MASS syndrome MESH:C536030|OMIM:604308|UMLS:C1858556|GARD:0008489|Orphanet:99715 https://rarediseases.info.nih.gov/diseases/8489/mass-syndrome owl:Class MONDO:0009383 biolink:NamedThing transient familial neonatal hyperbilirubinemia tmpaxzxjjyw_mondo_relaxed.owl breast milk jaundice|HBLRTFN|Lucey-Driscoll syndrome|hyperbilirubinemia transient familial neonatal|hyperbilirubinemia, transient familial neonatal|transient familial hyperbilirubinemia MESH:C562692|ICD10:P59.8|OMIM:237900|GARD:0003304|UMLS:C0270210|Orphanet:2312|GARD:0002791 https://rarediseases.info.nih.gov/diseases/2791/hyperbilirubinemia-transient-familial-neonatal owl:Class MONDO:0020385 biolink:NamedThing congenitally uncorrected transposition of the great arteries with coarctation tmpaxzxjjyw_mondo_relaxed.owl TGA with coarctation|congenitally uncorrected transposition of the great vessels with coarctation Orphanet:99042|ICD10:Q20.3 owl:Class HsapDv:0000088 biolink:NamedThing human early adulthood stage Adult stage that refers to an adult who is under 45. tmpaxzxjjyw_mondo_relaxed.owl 19-44 years owl:Class HsapDv:0000087 biolink:NamedThing human adult stage Human developmental stage that refers to an adult who is over 19. tmpaxzxjjyw_mondo_relaxed.owl 19+ years owl:Class HP:0000988 biolink:NamedThing Skin rash A red eruption of the skin. tmpaxzxjjyw_mondo_relaxed.owl Skin rash|Rash MEDDRA:10037844|SNOMEDCT_US:271807003|SNOMEDCT_US:112625008|UMLS:C0015230|MSH:D005076 human_phenotype owl:Class GO:0140245 biolink:NamedThing regulation of translation at postsynapse Any process that regulates translation occurring at the postsynapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010011 biolink:NamedThing collection of basal ganglia tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:26708 biolink:NamedThing sodium atom tmpaxzxjjyw_mondo_relaxed.owl 11Na|sodio|sodium|natrium|Natrium|Na owl:Class CHEBI:33937 biolink:NamedThing macronutrient Any nutrient required in large quantities by organisms throughout their life in order to orchestrate a range of physiological functions. Macronutrients are usually chemical elements (carbon, hydrogen, nitrogen, oxygen, phosphorus and sulfur) that humans consume in the largest quantities. Calcium, sodium, magnesium and potassium are sometimes included as macronutrients because they are required in relatively large quantities compared with other vitamins and minerals. tmpaxzxjjyw_mondo_relaxed.owl macronutrients owl:Class MONDO:0009339 biolink:NamedThing congenital bile acid synthesis defect 2 Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins. tmpaxzxjjyw_mondo_relaxed.owl congenital bile acid synthesis defect, type 2|congenital bile acid synthesis defect caused by mutation in AKR1D1|congenital bile acid synthesis defect type 2|CBAS2|bile acid synthesis defect, congenital, 2|cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency|bile acid synthesis defect, congenital, type 2|cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency|BASD2|AKR1D1 congenital bile acid synthesis defect DOID:0111069|MESH:C535443|OMIM:235555|UMLS:C1856127|Orphanet:79303|ICD10:K76.8|GARD:0010045 owl:Class UBERON:0001064 biolink:NamedThing ventral pancreatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012662 biolink:NamedThing Usher syndrome type 2D Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene. tmpaxzxjjyw_mondo_relaxed.owl WHRN Usher syndrome|USH2D|Usher syndrome, type 2D|Usher syndrome type 2D|USHER syndrome, type IID|Usher syndrome caused by mutation in WHRN|Usher syndrome type IID DOID:0110840|OMIM:611383|Orphanet:231178|ICD10:H35.5|Orphanet:886 owl:Class HGNC:16361 biolink:NamedThing WHRN tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013759 biolink:NamedThing internal cervical os tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005411 biolink:NamedThing bony otic capsule tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070991 biolink:NamedThing medium-chain-acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a medium-chain fatty acid residue. A medium chain fatty acid is any fatty acid with a chain length of between C6 and C12. tmpaxzxjjyw_mondo_relaxed.owl MCAD activity owl:Class UBERON:0035498 biolink:NamedThing gastrophrenic ligament tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005448 biolink:NamedThing greater omentum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002069 biolink:NamedThing female breast axillary tail cancer A cancer that involves the UBERON:0035289. tmpaxzxjjyw_mondo_relaxed.owl cancer of axillary tail of breast|malignant axillary tail of breast neoplasm|malignant neoplasm of axillary tail of female breast|malignant neoplasm of axillary tail of breast|axillary tail of breast cancer ICD10:C50.6|SCTID:188156001|ICD9:174.6|UMLS:C0153554|DOID:1650|ICD10:C50.61 owl:Class UBERON:0035289 biolink:NamedThing axillary tail of breast tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007967 biolink:NamedThing melanoma and neural system tumor syndrome Melanoma and neural system tumor syndrome is an extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). tmpaxzxjjyw_mondo_relaxed.owl melanoma and neural system tumor syndrome|melanoma-astrocytoma syndrome|melanoma astrocytoma syndrome Orphanet:252206|OMIM:155755|SCTID:717968005|MESH:C536149|DOID:0111511|UMLS:C1835042|GARD:0008468 owl:Class OBO:CHR_9606-chr19p13.1 biolink:NamedThing 19p13.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 19900000 12600000 hg38 owl:Class UBERON:0003332 biolink:NamedThing submucosa of duodenum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012565 biolink:NamedThing Fanconi anemia complementation group N Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene. tmpaxzxjjyw_mondo_relaxed.owl FANCN|PALB2 Fanconi anemia|Fanconi Anemia, complementation group type N|Fanconi anemia caused by mutation in PALB2|Fanconi anemia complementation group type N|Fanconi anemia complementation group N|Fanconi anemia, complementation group N MESH:C563657|DOID:0111094|OMIM:610832|UMLS:C1835817 owl:Class HGNC:26144 biolink:NamedThing PALB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001417 biolink:NamedThing tracheal lymphoma A rare lymphoma that arises from the trachea. Signs and symptoms include dyspnea, cough, wheezing, and stridor. tmpaxzxjjyw_mondo_relaxed.owl tracheal lymphoma|primary tracheal lymphoma|trachea lymphoma|lymphoma of the trachea|lymphoma of trachea DOID:12001|UMLS:C1336773|NCIT:C6248 owl:Class OBO:CHR_9606-chr21q22.11-q22.12 biolink:NamedThing 21q22.11-q22.12 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0009734 biolink:NamedThing hyperinsulinemic hypoglycemia, familial, 1 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the ABCC8 gene. tmpaxzxjjyw_mondo_relaxed.owl Nesidioblastosis of pancreas|hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia|HHF1|persistent hyperinsulinemic hypoglycemia of infancy|hyperinsulinemic hypoglycemia, familial, 1|hyperinsulinemic hypoglycemia, familial, type 1|hyperinsulinemic hypoglycemia due to SUR1 deficiency|hyperinsulinism, congenital|hyperinsulinism, familial, with pancreatic Nesidioblastosis|ABCC8 hyperinsulinemic hypoglycemia (disease)|hyperinsulinemic hypoglycemia (disease) caused by mutation in ABCC8|hypoglycemia, hyperinsulinemic, of infancy DOID:0070219|SCTID:360339005|Orphanet:276575|OMIM:256450|Orphanet:79643|UMLS:C2931833|Orphanet:276598 owl:Class HGNC:59 biolink:NamedThing ABCC8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0014033 biolink:NamedThing neural crest cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012371 biolink:NamedThing Noonan syndrome 3 Any Noonan syndrome in which the cause of the disease is a mutation in the KRAS gene. tmpaxzxjjyw_mondo_relaxed.owl Noonan syndrome caused by mutation in KRAS|KRAS Noonan syndrome|NS3|Noonan syndrome 3|KRAS gene related Noonan syndrome|Noonan syndrome type 3 MESH:C537847|UMLS:C1860991|OMIM:609942|DOID:0060581|GARD:0009885|Orphanet:648 https://rarediseases.info.nih.gov/diseases/9885/noonan-syndrome-3 owl:Class HGNC:6407 biolink:NamedThing KRAS tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001868 biolink:NamedThing skin of chest tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010523 biolink:NamedThing microcirculatory vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011602 biolink:NamedThing gingiva of lower jaw tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020971 biolink:NamedThing gonococcal urethritis Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact. tmpaxzxjjyw_mondo_relaxed.owl Gonococcal urethritis|gc urethritis|gonococcal urethritis SCTID:236682002|UMLS:C0018078|NCIT:C26787 owl:Class ENVO:01000624 biolink:NamedThing hydrological condensation process Hydrological condensation is a process in which atmospheric water vapour undergoes a phase transition from the gas phase to the liquid phase. tmpaxzxjjyw_mondo_relaxed.owl condensation owl:Class ENVO:01000268 biolink:NamedThing atmospheric water vapour Atmospheric water vapour is water vapour that is part of an atmosphere. tmpaxzxjjyw_mondo_relaxed.owl atmospheric water vapor owl:Class UBERON:0005686 biolink:NamedThing caecum dorsal mesentery tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr4q25 biolink:NamedThing 4q25 (Human) tmpaxzxjjyw_mondo_relaxed.owl 113200000 106700000 hg38 owl:Class MONDO:0010217 biolink:NamedThing de Sanctis-Cacchione syndrome A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities. tmpaxzxjjyw_mondo_relaxed.owl xerodermic idiocy|de Sanctis-Cacchione syndrome UMLS:C0265201|UMLS:CN199649|Orphanet:1569|ICD9:759.89|NCIT:C84666|SCTID:414673004|GARD:0008276|MESH:C535992|OMIM:278800 https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome owl:Class MONDO:0012411 biolink:NamedThing giant axonal neuropathy 2 Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons|DCAF8 giant axonal neuropathy|giant axonal neuropathy type 2|GAN2|HMSN2 with giant axons|CMT2 with giant axons|giant axonal neuropathy caused by mutation in DCAF8|autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons|giant axonal neuropathy 2, autosomal dominant UMLS:CN226146|GARD:0012447|Orphanet:401964|ICD10:G60.0|UMLS:C1864695|OMIM:610100|DOID:0090069 owl:Class HGNC:24891 biolink:NamedThing DCAF8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006284 biolink:NamedThing early prosencephalic vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018326 biolink:NamedThing transient neonatal myasthenia gravis Transient neonatal myasthenia gravis (MG) is a rare form of MG occurring in neonates born to mothers who have the disorder or specific circulating autoantibodies. tmpaxzxjjyw_mondo_relaxed.owl NMG|transient neonatal acquired myasthenia|neonatal myasthenia gravis|transient neonatal autoimmune myasthenia gravis UMLS:C0495465|Orphanet:391504|ICD10:P94.0|NCIT:C117308 owl:Class GO:0001755 biolink:NamedThing neural crest cell migration The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0014032 biolink:NamedThing neural crest cell development The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003205 biolink:NamedThing renal pelvis adenocarcinoma A carcinoma that arises from glandular epithelial cells of the renal pelvis tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of kidney pelvis|kidney renal pelvis adenocarcinoma|adenocarcinoma of the kidney pelvis|adenocarcinoma of the renal pelvis|kidney pelvis adenocarcinoma|adenocarcinoma of renal pelvis|renal pelvis adenocarcinoma DOID:4918|UMLS:C1335748|NCIT:C6143 owl:Class UBERON:0001465 biolink:NamedThing knee tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007238 biolink:NamedThing 1st arch maxillary component tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003868 biolink:NamedThing proximal phalanx of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001466 biolink:NamedThing pedal digit tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005865 biolink:NamedThing pre-muscle condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008324 biolink:NamedThing cation transmembrane transporter activity Enables the transfer of cation from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl transmembrane cation transporter activity owl:Class GO:0098655 biolink:NamedThing cation transmembrane transport The process in which a cation is transported across a membrane. tmpaxzxjjyw_mondo_relaxed.owl ATP hydrolysis coupled cation transmembrane transport owl:Class MONDO:0013719 biolink:NamedThing cranioectodermal dysplasia 4 tmpaxzxjjyw_mondo_relaxed.owl CED4|cranioectodermal dysplasia 4|cranioectodermal dysplasia type 4 OMIM:614378|Orphanet:1515|UMLS:C3280616 owl:Class HP:0010884 biolink:NamedThing Acromelia Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023675 peter 2010-09-20T11:17:40Z human_phenotype owl:Class MONDO:0003759 biolink:NamedThing childhood ovarian yolk sac tumor A yolk sac tumor that arises from the ovary and occurs in children. tmpaxzxjjyw_mondo_relaxed.owl pediatric ovarian endodermal sinus neoplasm|ovary childhood endodermal sinus tumor|childhood ovarian yolk Sac neoplasm|childhood ovarian yolk sac tumor|childhood ovarian endodermal sinus tumor|childhood ovarian endodermal sinus neoplasm|pediatric ovarian yolk Sac neoplasm|pediatric ovarian endodermal sinus tumor|pediatric ovarian yolk Sac tumor DOID:6083|NCIT:C6551|UMLS:C1332993 owl:Class GO:0002020 biolink:NamedThing protease binding Binding to a protease or a peptidase. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003246 biolink:NamedThing epithelium of endolymphatic sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007336 biolink:NamedThing isolated cleft palate A cleft palate that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic cleft palate|cleft palate|dominant cleft palate|cleft palate, isolated|isolated cleft palate|CPI ICD10:Q35.5|OMIM:119540|GARD:0001896|ICD10:Q35.7|ICD10:Q35.1|ICD10:Q35.9|ICD10:Q35.3|Orphanet:2014|DOID:0110213|UMLS:CN234898 https://rarediseases.info.nih.gov/diseases/1896/dominant-cleft-palate owl:Class MONDO:0001869 biolink:NamedThing paraurethral gland cancer A malignant neoplasm involving the paraurethral gland. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of the paraurethral gland|malignant tumor of paraurethral gland|malignant paraurethral gland neoplasm|malignant neoplasm of paraurethral gland|paraurethral gland cancer|cancer of paraurethral gland UMLS:C0153621|SCTID:363460002|DOID:14059|ICD10:C68.1|ICD9:189.4 owl:Class HGNC:3600 biolink:NamedThing FBLN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010253 biolink:NamedThing 1st arch maxillary mesenchyme from neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00000111 biolink:NamedThing forested area An area with a high density of trees. A small forest may be called a wood. tmpaxzxjjyw_mondo_relaxed.owl wood|forest owl:Class ENVO:01001243 biolink:NamedThing forest ecosystem An ecosystem which is determined by communities of plants with a tree growth form and in which members of those communities form continuous or discontinuous regions of canopy cover. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000097 biolink:NamedThing mast cell A cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. Progenitors leave bone marrow and mature in connective and mucosal tissue. Mature mast cells are found in all tissues, except the bloodstream. Their phenotype is CD117-high, CD123-negative, CD193-positive, CD200R3-positive, and FceRI-high. Stem-cell factor (KIT-ligand; SCF) is the main controlling signal of their survival and development. tmpaxzxjjyw_mondo_relaxed.owl labrocyte|tissue basophil|histaminocyte|mastocyte CALOHA:TS-0603|FMA:66784|BTO:0000830 Mast cells are generally integrin beta-7-negative and positive for TLR2, TLR3, TLR4, TLR5, TLR7, TLR9, C3aR, C5aR, CR3, CR4, VEGF, FGF2, and renin. They can express MHC Class I and II on their surface. Activated murine mast cells (IgE+Antigen) were capable of expressing the following co-stimulatory molecules: CD95 (Fas), CD120b, CD137 (4-1BB), CD153 (CD30L), CD154 (CD40L), GITR, ICOSL, OX40L, PD-L1, and PD-L2. Note that there was some mouse strain variation. Mast cells have also been demonstrated to produce bFGF, CCL2, CCL4, CCL5, CCL11, CCL20, CXCL2, CXCL8, CXCL10, GM-CSF, IFN-gamma, IL-1, IL-2, IL-3, IL-8, IL-10, IL-11, IL-12, IL-13, IL-16, IL-25, IL-18, MIP-1, prostaglandin D2, SCF, TGF-beta, TNF-alpha, TSLP, VEGF, and XCL1. They express the transcription factors Transcription factors AP-1, GATA1, MITF, Notch2, PIAS3, PU.1, and STAT5. cell owl:Class GO:0002652 biolink:NamedThing regulation of tolerance induction dependent upon immune response Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. tmpaxzxjjyw_mondo_relaxed.owl regulation of immune response-dependent tolerance induction owl:Class MONDO:0043297 biolink:NamedThing vibrio vulnificus infectious disease An disease or disorder caused by infection with Vibrio vulnificus. tmpaxzxjjyw_mondo_relaxed.owl vibrio vulnificus infectious disease|vibrio vulnificus infection|Vibrio vulnificus caused disease or disorder|Vibrio vulnificus disease or disorder|Vibrio vulnificus infectious disease MESH:C536348|SCTID:402965002|GARD:0009584|UMLS:C1274377 owl:Class NCBITaxon:672 biolink:NamedThing Vibrio vulnificus tmpaxzxjjyw_mondo_relaxed.owl Beneckea vulnifica GC_ID:11|PMID:1015934|PMID:8186099 ncbi_taxonomy owl:Class MONDO:0013678 biolink:NamedThing EDICT syndrome EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl KTCNCT|EDICT syndrome|keratoconus with cataract|autosomal dominant keratoconus with early-onset anterior polar cataracts|endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning syndrome|endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome|EDICT|familial keratoconus with cataract|keratoconus, familial, with early-onset anterior polar cataract UMLS:C3280392|Orphanet:293936|SCTID:722439009|OMIM:614303 owl:Class HGNC:31555 biolink:NamedThing MIR184 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000320 biolink:NamedThing glandular tularemia A tularemia that involves the lymph node. tmpaxzxjjyw_mondo_relaxed.owl lymph node tularemia DOID:0050382|UMLS:C0275974|SCTID:21857006 owl:Class UBERON:0001962 biolink:NamedThing gut-associated lymphoid tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012994 biolink:NamedThing dopa-responsive dystonia due to sepiapterin reductase deficiency Dopa responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development. tmpaxzxjjyw_mondo_relaxed.owl dystonia, DOPA-responsive, due to sepiapterin reductase deficiency|DRD due to SRD|SPR deficiency|SRD|dopa-responsive dystonia due to sepiapterin reductase deficiency|sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient DRD|DYT-SPR Orphanet:70594|ICD10:G24.1|ICD9:277.89|MESH:C562657|DOID:0111168|GARD:0010365|SCTID:45116002|OMIM:612716|UMLS:C0268468 owl:Class GO:0004757 biolink:NamedThing sepiapterin reductase activity Catalysis of the reaction: 7,8-dihydrobiopterin + NADP+ = sepiapterin + NADPH + H+. tmpaxzxjjyw_mondo_relaxed.owl 7,8-dihydrobiopterin:NADP+ oxidoreductase activity owl:Class UBERON:0009917 biolink:NamedThing kidney corticomedullary boundary tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013446 biolink:NamedThing Leber congenital amaurosis 6 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPGRIP1 gene. tmpaxzxjjyw_mondo_relaxed.owl Leber congenital amaurosis 6|LCA6|Leber congenital amaurosis type 6|Leber congenital amaurosis caused by mutation in RPGRIP1|RPGRIP1 Leber congenital amaurosis OMIM:613826|MESH:C565327|GARD:0010490|ICD10:H35.5|DOID:0110329|HGNC:13436 https://rarediseases.info.nih.gov/diseases/10490/leber-congenital-amaurosis-6 owl:Class UBERON:0005254 biolink:NamedThing upper leg mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003693 biolink:NamedThing retroperitoneal space tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002085 biolink:NamedThing interatrial septum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034874 biolink:NamedThing air in respiratory system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001177 biolink:NamedThing left hepatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000391 biolink:NamedThing leptomeninx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006921 biolink:NamedThing Actinomycetales infectious disease Infections with bacteria of the order actinomycetales. tmpaxzxjjyw_mondo_relaxed.owl actinomycosis|actinomycetales caused disease or disorder|actinomycetales disease or disorder|actinomycotic infectious disease|actinomycete infections|actinomycetales infection|actinomycete infection|infections, actinomycete|actinomycotic infection|infection, actinomycetales|infections, actinomycetales|infection, actinomycete|actinomycetales infections|infection caused by actinomycetales NCIT:C84534|UMLS:C0001255|SCTID:721751007|SCTID:11817007|EFO:1001122|ICD9:039.9|ICD9:039.8|MESH:D000193 owl:Class HP:0000819 biolink:NamedThing Diabetes mellitus A group of abnormalities characterized by hyperglycemia and glucose intolerance. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011849|MSH:D003920|SNOMEDCT_US:73211009 HP:0008260|HP:0008217|HP:0004908|HP:0008234 human_phenotype owl:Class MONDO:0008368 biolink:NamedThing autosomal dominant distal renal tubular acidosis Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia. tmpaxzxjjyw_mondo_relaxed.owl distal renal tubular acidosis (disease), autosomal dominant|AD dRTA|RTA, gradient type|RTA, classic type|renal tubular acidosis, distal, autosomal dominant|renal tubular acidosis 1|autosomal dominant distal renal tubular acidosis (disease)|autosomal dominant SLC4A1-associated distal renal tubular acidosis|RTA, distal type, autosomal dominant Orphanet:93608|ICD10:N25.8|OMIM:179800|Orphanet:18|GARD:0004668 owl:Class HGNC:11027 biolink:NamedThing SLC4A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013411 biolink:NamedThing cranial cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013158 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life. tmpaxzxjjyw_mondo_relaxed.owl Walker-Warburg syndrome or muscle-eye-brain disease, large-related|MDDGA6|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 UMLS:C3150414|OMIM:613154|DOID:0111242|Orphanet:899|Orphanet:588|NCIT:C126743 owl:Class HGNC:6511 biolink:NamedThing LARGE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013766 biolink:NamedThing familial cold autoinflammatory syndrome 3 PLCG2-associated antibody deficiency and immune dysregulation is a rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. tmpaxzxjjyw_mondo_relaxed.owl FCAS3|plaid|PLCG2-associated antibody deficiency and immune dysregulation|familial atypical cold urticaria|familial cold autoinflammatory syndrome 3|familial cold autoinflammatory syndrome type 3|familial cold urticaria with common variable immunodeficiency|FACU|antibody deficiency and immune dysregulation, PLCG2-associated|PLCG2 familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome caused by mutation in PLCG2 ICD10:L50.2|OMIM:614468|UMLS:C3280914|Orphanet:300359|DOID:0090064 owl:Class HGNC:9066 biolink:NamedThing PLCG2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001020 biolink:NamedThing nervous system commissure tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000110 biolink:NamedThing 16-year-old human stage Adolescent stage that refers to an adolescent who is over 16 and under 17 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000360 biolink:NamedThing Tinnitus Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. tmpaxzxjjyw_mondo_relaxed.owl Ringing in ears|Ringing in the ears UMLS:C0040264|SNOMEDCT_US:162349004|MSH:D014012|SNOMEDCT_US:162352007|SNOMEDCT_US:60862001 human_phenotype owl:Class MONDO:0004278 biolink:NamedThing infiltrating bladder urothelial carcinoma sarcomatoid variant An invasive transitional cell carcinoma of the bladder that exhibits spindle cell sarcomatoid features. tmpaxzxjjyw_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, sarcomatoid variant without heterologous elements|sarcomatoid carcinoma of the urinary bladder|infiltrating bladder urothelial carcinoma, sarcomatoid variant with heterologous elements|infiltrating bladder urothelial carcinoma sarcomatoid variant UMLS:C1512745|DOID:7553|ONCOTREE:SCB|EFO:1000303|NCIT:C39824|UMLS:C1512744|UMLS:C1512743 owl:Class MONDO:0013930 biolink:NamedThing peroxisome biogenesis disorder 4A (Zellweger) tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group C|peroxisome biogenesis disorder, complementation group 6|PBD4A|classic peroxisome biogenesis disorder|peroxisome biogenesis disorder 4A (Zellweger)|peroxisome biogenesis disorder, complementation group 4 MESH:C563301|NCIT:C155754|DOID:0080479|OMIM:614862|UMLS:C3553936 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100356 biolink:NamedThing classic presentation A severe form of a genetic disease. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3221 owl:Class MONDO:0012474 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 4 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nocturnal frontal lobe epilepsy type 4|convulsions, benign familial infantile, 6|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2|ENFL4|nocturnal frontal lobe epilepsy 4|epilepsy, familial, with nocturnal wandering and Ictal fear|epilepsy, nocturnal frontal lobe, 4|seizures, benign familial infantile, 6|CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy|epilepsy, nocturnal frontal lobe, type 4 UMLS:C1835905|MESH:C563679|DOID:0060685|OMIM:610353|Orphanet:98784 owl:Class HGNC:1956 biolink:NamedThing CHRNA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:15924 biolink:NamedThing SALL4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:16716 biolink:NamedThing benzene A six-carbon aromatic annulene in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl [6]annulene|benzene|BENZENE|Mineral naphtha|Benzine|Pyrobenzol|Pyrobenzole|Benzene|cyclohexatriene|benzole|Benzol|Coal naphtha|Benzen|Bicarburet of hydrogen|Phene|phenyl hydride owl:Class UBERON:0001619 biolink:NamedThing ophthalmic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0033363 biolink:NamedThing secretory granule organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. tmpaxzxjjyw_mondo_relaxed.owl secretory granule organisation|secretory granule organization and biogenesis owl:Class GO:0010256 biolink:NamedThing endomembrane system organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system. tmpaxzxjjyw_mondo_relaxed.owl endomembrane system organisation|endomembrane organization owl:Class GO:0007276 biolink:NamedThing gamete generation The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. tmpaxzxjjyw_mondo_relaxed.owl gametogenesis owl:Class MONDO:0022948 biolink:NamedThing Deal Barratt Dillon syndrome tmpaxzxjjyw_mondo_relaxed.owl Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea UMLS:C2931773|MESH:C538206 owl:Class MONDO:0044343 biolink:NamedThing cervical disc degenerative disorder Any degenerative disorder affecting one or more vertebral discs of the cervical spine. tmpaxzxjjyw_mondo_relaxed.owl intervertebral disc degenerative disorder of cervical region of vertebral column|cervical Disc degenerative disease|cervical Disc degenerative disorder|cervical Disc Degeneration|degeneration of cervical intervertebral disc|cervical region of vertebral column intervertebral disc degenerative disorder UMLS:C0158262|UMLS:C0410606|SCTID:69195002|NCIT:C27156 owl:Class UBERON:0006072 biolink:NamedThing cervical region of vertebral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0041403 biolink:NamedThing toxic amblyopia A condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors. tmpaxzxjjyw_mondo_relaxed.owl nutritional optic neuropathy|tobacco amblyopia SCTID:30483005 owl:Class CL:0002420 biolink:NamedThing immature T cell A T cell that has not completed T cell selection. tmpaxzxjjyw_mondo_relaxed.owl immature T-cell CALOHA:TS-1042|BTO:0001372 tmeehan 2010-10-12T01:56:17Z cell owl:Class GO:0045058 biolink:NamedThing T cell selection The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. tmpaxzxjjyw_mondo_relaxed.owl T lymphocyte selection|T-lymphocyte selection|T-cell selection owl:Class HGNC:21699 biolink:NamedThing CERKL tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0001065 biolink:NamedThing innate lymphoid cell A lymphocyte that lacks characteristic T cell, B cell, myeloid cell, and dendritic cell markers, that functions as part of the innate immune response to produce cytokines and other effector responses. tmpaxzxjjyw_mondo_relaxed.owl 2017-01-30 20:20:48+00:00 cell owl:Class OBO:MF_0000017 biolink:NamedThing consciousness Consciousness is an inseparable part of all mental processes. It is that part of the mental process that: a) confers a subjective perspective, a phenomenology, an experience of the mental process of which it is a part; and b) intends the object or event that the mental process is about, should such exist; i.e., it confers intentionality on the mental process. tmpaxzxjjyw_mondo_relaxed.owl Note that while there are different modes of consciousness corresponding to the different senses, the whole of conscious experience at any one time is largely experienced as a unity, that is, as a fused whole. Mental processes which are simultaneously ongoing are separable only in fiat, not in essence. owl:Class MONDO:0012850 biolink:NamedThing hypophosphatemic nephrolithiasis/osteoporosis 1 tmpaxzxjjyw_mondo_relaxed.owl NPHLOP1|hypophosphatemic nephrolithiasis/osteoporosis type 1|nephrolithiasis/osteoporosis, hypophosphatemic, type 1|nephrolithiasis/osteoporosis, hypophosphatemic, 1 MESH:C567363|UMLS:C2676786|OMIM:612286|Orphanet:244305|DOID:0080077 owl:Class UBERON:0000978 biolink:NamedThing leg tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013952 biolink:NamedThing peroxisome biogenesis disorder 13A (Zellweger) tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder 13A (Zellweger)|peroxisome biogenesis disorder, complementation group K|PBD13A UMLS:C3554004|MESH:C566624|DOID:0080487|OMIM:614887 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class GO:0050884 biolink:NamedThing neuromuscular process controlling posture Any process in which an organism voluntarily modulates its posture, the alignment of its anatomical parts. tmpaxzxjjyw_mondo_relaxed.owl regulation of posture owl:Class GO:0050881 biolink:NamedThing musculoskeletal movement The movement of an organism or part of an organism using mechanoreceptors, the nervous system, striated muscle and/or the skeletal system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001068 biolink:NamedThing osteomalacia A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003 tmpaxzxjjyw_mondo_relaxed.owl osteomalacia (disease)|osteomalacia osteomalacia (disease) ICD9:268.2|HP:0002749|EFO:1002027|DOID:10573|GARD:0007285|MESH:D010018|SCTID:4598005|NCIT:C26838 owl:Class HP:0100512 biolink:NamedThing Low levels of vitamin D A reduced concentration of Vitamin D. tmpaxzxjjyw_mondo_relaxed.owl Deficient in vitamin D|Vitamin D deficiency MSH:D014808|UMLS:C0042870|SNOMEDCT_US:34713006 doelkens 2010-12-17T06:19:35Z human_phenotype owl:Class UBERON:0011899 biolink:NamedThing epimysium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012931 biolink:NamedThing focal segmental glomerulosclerosis 4, susceptibility to Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene. tmpaxzxjjyw_mondo_relaxed.owl FSGS4|focal segmental glomerulosclerosis caused by mutation in APOL1|susceptibility to focal segmental glomerulosclerosis 4|APOL1 focal segmental glomerulosclerosis|end-stage renal disease, nondiabetic, susceptibility to|focal segmental glomerulosclerosis 4, susceptibility to OMIM:612551 owl:Class HGNC:618 biolink:NamedThing APOL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6035 biolink:NamedThing Encephalitozoon cuniculi tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0022360 biolink:NamedThing male mammary gland duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6018 biolink:NamedThing IL6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002822 biolink:NamedThing regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004625 biolink:NamedThing phlebitis Inflammation of a vein. tmpaxzxjjyw_mondo_relaxed.owl inflammation of vein|vein inflammation NCIT:C38003|MESH:D010689|EFO:1001395|SCTID:61599003|DOID:864|ICD10:I80 owl:Class GO:1903294 biolink:NamedThing regulation of glutamate secretion, neurotransmission Any process that modulates the frequency, rate or extent of glutamate secretion, neurotransmission. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0061535 biolink:NamedThing glutamate secretion, neurotransmission The controlled release of glutamate by a cell, in which the glutamate acts as a neurotransmitter. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001306 biolink:NamedThing decreased temperature A temperature which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl cold|low temperature owl:Class MONDO:0009173 biolink:NamedThing congenital enteropathy due to enteropeptidase deficiency A rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated. tmpaxzxjjyw_mondo_relaxed.owl congenital enterokinase deficiency|enterokinase deficiency|enteropeptidase deficiency UMLS:C0268416|ICD9:277.89|DOID:0111667|MESH:C562649|ICD10:K90.8|OMIM:226200|Orphanet:168601|SCTID:190952002 owl:Class GO:0009896 biolink:NamedThing positive regulation of catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of catabolic process|stimulation of catabolic process|positive regulation of catabolism|positive regulation of degradation|positive regulation of breakdown|activation of catabolic process|upregulation of catabolic process|up regulation of catabolic process owl:Class GO:0009056 biolink:NamedThing catabolic process The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. tmpaxzxjjyw_mondo_relaxed.owl degradation|catabolism|breakdown|multicellular organismal catabolic process|single-organism catabolic process owl:Class UBERON:0012469 biolink:NamedThing external anal region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:8410048 biolink:NamedThing venule of colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:52090 biolink:NamedThing methoxide An organic anion that is the conjugate base of methanol. tmpaxzxjjyw_mondo_relaxed.owl methoxide ion owl:Class MONDO:0008562 biolink:NamedThing thumb deformity-alopecia-pigmentation anomaly syndrome Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. tmpaxzxjjyw_mondo_relaxed.owl hypotrichosis associated with congenital hypoplasia of the thumb|sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation|thumb deformity and alopecia|congenital deformity of the thumb and congenital alopecia|thumb deformity, alopecia, pigmentation anomaly MESH:C566054|UMLS:C2931366|Orphanet:2251|OMIM:188150|GARD:0005199 owl:Class GO:0045987 biolink:NamedThing positive regulation of smooth muscle contraction Any process that activates or increases the frequency, rate or extent of smooth muscle contraction. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of smooth muscle contraction|stimulation of smooth muscle contraction|up regulation of smooth muscle contraction|activation of smooth muscle contraction|upregulation of smooth muscle contraction owl:Class HGNC:28396 biolink:NamedThing TMEM67 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007691 biolink:NamedThing Guillain-Barre syndrome, familial A form of Guillain-Barre syndrome (GBS) that occurs in persons or families with a genetic predisposition to the acute or chronic forms of GBS. Note that GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors, and families with clear Mendelian inheritance have been rarely reported: a mutation in the PMP22 gene (601097) on chromosome 17 was identified in a single family with the acute (AIDP) and chronic (CIDP) forms of inflammatory demyelinating polyneuropathy. tmpaxzxjjyw_mondo_relaxed.owl polyneuropathy, inflammatory demyelinating, chronic|polyneuropathy, inflammatory demyelinating, acute|chronic inflammatory demyelinating polyneuropathy|AIDP|GBS|Guillain-Barre syndrome, familial|chronic inflammatory demyelinating polyradiculoneuropathy GARD:0006102|OMIM:139393|Orphanet:98916|SCTID:716723000|ICD10:G61.8|MedDRA:10057645 Editor note: check this https://github.com/monarch-initiative/mondo/issues/3467 owl:Class MONDO:0002943 biolink:NamedThing external ear basal cell carcinoma A basal cell carcinoma that arises from the skin of the external ear. tmpaxzxjjyw_mondo_relaxed.owl external Ear basal cell carcinoma|basal cell carcinoma of the external Ear|external ear skin basal cell carcinoma|basal cell carcinoma of external ear|basal cell carcinoma of external Ear|basal cell external ear carcinoma|basal cell carcinoma of the external ear|skin basal cell carcinoma of external ear DOID:4287|UMLS:C1333491|NCIT:C6082 owl:Class UBERON:0000110 biolink:NamedThing neurula stage Staged defined by the formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000298 biolink:NamedThing dioctophymiasis A disease caused by infection with Dioctophyme renale. tmpaxzxjjyw_mondo_relaxed.owl Dioctophyme renale caused disease or disorder|Dioctophyme renale infectious disease|giant kidney worm disease|dioctophyma renale infection|dioctophymosis|Dioctophyme renale infection|Dioctophyme renale disease or disorder SCTID:40410004|DOID:0050260|UMLS:C0012482 owl:Class MONDO:0014858 biolink:NamedThing intellectual disability, autosomal dominant 43 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the HIVEP2 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant intellectual disability-43|mental retardation, autosomal dominant type 43|intellectual disability, autosomal dominant 43|MRD43|autosomal dominant intellectual disability 43|HIVEP2-related intellectual disability|autosomal dominant mental retardation 43|intellectual disability, autosomal dominant type 43|HIVEP2 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2|autosomal dominant non-syndromic intellectual disability 43|mental retardation, autosomal dominant 43 GARD:0013179|SCTID:765434008|DOID:0070073|UMLS:C4310771|OMIM:616977 owl:Class HGNC:4921 biolink:NamedThing HIVEP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016144 biolink:NamedThing qualitative or quantitative defects of delta-sarcoglycan tmpaxzxjjyw_mondo_relaxed.owl delta-sarcoglycanopathy GARD:0001799|UMLS:CN072428|Orphanet:207070 owl:Class HGNC:10807 biolink:NamedThing SGCD tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001758 biolink:NamedThing periodontium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012627 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 13 An inherited susceptibility or predisposition to developing juvenile myclonic epilepsy, idiopathic generalized epilepsy, or childhood absence epilepsy in which the cause of the disease is a mutation in the GABRA1 gene. tmpaxzxjjyw_mondo_relaxed.owl susceptibility to idiopathic generalized epilepsy 13|epilepsy, juvenile myoclonic, susceptibility to, 5|epilepsy, idiopathic generalized, susceptibility to, 13|GABRA1 juvenile myoclonic epilepsy|EIG13|juvenile myoclonic epilepsy caused by mutation in GABRA1|epilepsy, idiopathic generalized, susceptibility to, type 13|epilepsy, childhood absence, susceptibility to, 4 Orphanet:64280|DOID:0111314|MESH:C567002|OMIM:611136|Orphanet:307 owl:Class UBERON:0001476 biolink:NamedThing deltoid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012807 biolink:NamedThing epidermolysis bullosa simplex with pyloric atresia Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa simplex with pyloric atresia|EBS-PA|EBS with pyloric atresia|EBSPA ICD10:Q81.0|MESH:C567408|OMIM:612138|SCTID:716701004|UMLS:C2677349|Orphanet:158684 owl:Class UBERON:0001649 biolink:NamedThing glossopharyngeal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0001024 biolink:NamedThing CD34-positive, CD38-negative hematopoietic stem cell CD133-positive hematopoietic stem cell is a hematopoietic stem cell that is CD34-positive, CD90-positive, and CD133-positive. tmpaxzxjjyw_mondo_relaxed.owl CD133-positive hematopoietic stem cell CALOHA:TS-0448|FMA:86475 Cell markers are associated with human hematopoietic stem cells. Originally described in the dendritic cell ontology (DC_CL:0000035)(PMID:19243617). cell owl:Class MONDO:0008136 biolink:NamedThing isolated optic nerve hypoplasia tmpaxzxjjyw_mondo_relaxed.owl optic nerve aplasia, bilateral|familial bilateral optic nerve hypoplasia|optic nerve hypoplasia, bilateral|isolated optic nerve hypoplasia/aplasia|optic nerve hypoplasia, familial bilateral DOID:0111531|ICD10:H47.0|GARD:0008419|Orphanet:137902|UMLS:C1833797|SCTID:724999003|OMIM:165550|UMLS:C4510723 owl:Class HGNC:8620 biolink:NamedThing PAX6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8729 biolink:NamedThing PCNA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010962 biolink:NamedThing diffuse nonepidermolytic palmoplantar keratoderma A rare, genetic, isolated diffuse palmoplantar keratoderma characterized by diffuse, mild to thick, finely demarcated hyperkeratosis of palms and soles. Additional clinical findings include knuckle pad-like keratoses on fingers, hyperkeratosis of umbilicus and areolae, diffuse dry skin, hyperhidrosis, hangnails and frequent fungal infections. Histological examination of lesions reveals orthokeratotic hyperkeratosis, acanthosis, hypergranulosis, and mild lymphocyte infiltrations in the upper dermis with no evidence of epidermolysis. tmpaxzxjjyw_mondo_relaxed.owl PPK diffusa circumscripta|nonepidermolytic palmoplantar keratoderma|Thost-Unna disease|palmoplantar keratoderma, nonepidermolytic|PPKNE|KRT1-related diffuse nonepidermolytic keratoderma|NEPPK|Thost-Unna palmoplantar keratoderma|keratoderma, nonepidermolytic palmoplantar|tylosis|Unna-Thost palmoplantar keratoderma|diffuse NEPPK|diffuse nonepidermolytic palmoplantar keratoderma GARD:0005186|OMIM:600962|Orphanet:496|Orphanet:530838 owl:Class HGNC:6412 biolink:NamedThing KRT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903565 biolink:NamedThing negative regulation of protein localization to cilium Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cilium. tmpaxzxjjyw_mondo_relaxed.owl downregulation of protein localization to cilium|down-regulation of protein localization to cilium|inhibition of protein localization to cilium|down regulation of protein localization to cilium owl:Class MONDO:0013909 biolink:NamedThing human herpesvirus 8, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl HUMAN HERPESVIRUS 8, susceptibility to|HHV8S|HHV-8, susceptibility to OMIM:614836 owl:Class UBERON:0002498 biolink:NamedThing deltopectoral crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012717 biolink:NamedThing renal hypomagnesemia 4 Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene. tmpaxzxjjyw_mondo_relaxed.owl EGF primary hypomagnesemia|hypomagnesemia 4, renal|hypomagnesemia, renal, Normocalciuric|renal hypomagnesemia type 4|HOMG4|primary hypomagnesemia caused by mutation in EGF|EGF familial primary hypomagnesemia|familial primary hypomagnesemia caused by mutation in EGF DOID:0060882|MESH:C567127|ICD10:E83.4|OMIM:611718|Orphanet:34527|UMLS:C2673648 owl:Class UBERON:0003529 biolink:NamedThing respiratory system lymphatic vessel endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002472 biolink:NamedThing stylopod tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011583 biolink:NamedThing stylopodial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001218 biolink:NamedThing middle colic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001138 biolink:NamedThing superior mesenteric vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001867 biolink:NamedThing phaeohyphomycosis An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions. tmpaxzxjjyw_mondo_relaxed.owl phaehyphomycosis|infection by dematiacious fungi [Phaehyphomycosis]|infection by dematiacious fungi DOID:14049|GARD:0012803|ICD9:117.8|MESH:D060446|SCTID:47158003 https://rarediseases.info.nih.gov/diseases/12803/phaeohyphomycosis owl:Class NCBITaxon:89940 biolink:NamedThing Cladophialophora bantiana tmpaxzxjjyw_mondo_relaxed.owl Xylohypha bantiana|Cladosporium bantianum|Cladosporium trichoides GC_ID:1 NCBITaxon:5590 ncbi_taxonomy owl:Class HGNC:8140 biolink:NamedThing OPA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010547 biolink:NamedThing pedal digit 1 metatarsal pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009550 biolink:NamedThing endoderm of foregut-midgut junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0019020 biolink:NamedThing extrahepatic cholangiocyte An epithelial cell of the extrahepatic bile ducts, including the left and right hepatic duct, common hepatic duct, and common bile duct. They are columnar in shape, and have a large nuclear-to-cytoplasmic ratio relative to small/intrahepatic cholangiocytes. tmpaxzxjjyw_mondo_relaxed.owl large bile duct cholangiocyte 2020-09-03 12:24:24+00:00 owl:Class OBO:CHR_9606-chr10q2 biolink:NamedThing 10q2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 133797422 51100000 hg38 owl:Class OBO:CHR_9606-chr10q biolink:NamedThing 10q (Human) tmpaxzxjjyw_mondo_relaxed.owl 133797422 39800000 hg38 owl:Class MONDO:0013544 biolink:NamedThing atrial fibrillation, familial, 11 Any familial atrial fibrillation in which the cause of the disease is a mutation in the GJA5 gene. tmpaxzxjjyw_mondo_relaxed.owl atrial fibrillation, familial, 11|GJA5 familial atrial fibrillation|familial atrial fibrillation caused by mutation in GJA5|atrial fibrillation, familial, type 11|ATFB11 OMIM:614049|UMLS:C3279693|Orphanet:334 owl:Class HGNC:4279 biolink:NamedThing GJA5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002389 biolink:NamedThing manual digit tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015214 biolink:NamedThing arcuate ligament tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001103 biolink:NamedThing diaphragm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012584 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 9 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the CR2 gene. tmpaxzxjjyw_mondo_relaxed.owl susceptibility to systemic lupus erythematosus 9|CR2 systemic lupus erythematosus (disease)|SLEB9|systemic lupus erythematosus, susceptibility to, 9|systemic lupus erythematosus (disease) caused by mutation in CR2|systemic lupus erythematosus, susceptibility to, type 9 OMIM:610927 owl:Class HGNC:2336 biolink:NamedThing CR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003658 biolink:NamedThing hip muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001464 biolink:NamedThing hip tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005661 biolink:NamedThing babesiosis Babesiosis refers to a condition caused by microscopic parasites that infect the red blood cells. Many people who are infected with Babesia parasites do not experience any symptoms of the condition. When present, signs and symptoms may include flu-like symptoms such as fever, chills, headache, body aches, nausea and fatigue. In severe cases, babesiosis can be associated with hemolytic anemia. Babesia parasites are primarily spread by infected ticks. Treatment is generally only required in people who develop symptoms of the condition. When necessary, affected people are often prescribed a combination of antimicrobial medications along with supportive care to manage symptoms. tmpaxzxjjyw_mondo_relaxed.owl Babesia parasite infection|piroplasmosis|Human babesiosis|infection by Babesia|Babesia infectious disease|Babesia disease or disorder|babesiasis|Babesia caused disease or disorder UMLS:C0004576|GARD:0005878|SCTID:21061004|ICD10:B60.0|MedDRA:10003965|Orphanet:108|EFO:0007162|ICD9:088.82|MESH:D001404|DOID:9643|NCIT:C84581 https://rarediseases.info.nih.gov/diseases/5878/babesiosis owl:Class UBERON:0002008 biolink:NamedThing cardiac nerve plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014796 biolink:NamedThing autosomal recessive early-onset Parkinson disease 23 Any young-onset Parkinson disease in which the cause of the disease is a mutation in the VPS13C gene. tmpaxzxjjyw_mondo_relaxed.owl PARK23|Parkinson disease 23, autosomal recessive early-onset|autosomal recessive early-onset Parksinson disease type 23|autosomal recessive early-onset Parkinson's disease 23|young-onset Parkinson disease caused by mutation in VPS13C|VPS13C young-onset Parkinson disease|autosomal recessive early-onset Parkinson disease 23 OMIM:616840|DOID:0060896|UMLS:C4225186|ICD10:G20 owl:Class HGNC:23594 biolink:NamedThing VPS13C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009346 biolink:NamedThing histidinuria due to a renal tubular defect tmpaxzxjjyw_mondo_relaxed.owl histidinuria due to a renal tubular defect|histidinuria-renal tubular defect syndrome Orphanet:2158|UMLS:C0268642|OMIM:235830|ICD10:E70.8|MESH:C538321|GARD:0002708 owl:Class MONDO:0021568 biolink:NamedThing renal tubule disorder A disease that involves the renal tubule. tmpaxzxjjyw_mondo_relaxed.owl renal tubular disease|renal tubular disorder|disorder of renal tubule|disease of renal tubule|renal tubule disease|disease or disorder of renal tubule|renal tubule disease or disorder UMLS:C0151747|SCTID:95568003|ICD9:588.89 owl:Class CHEBI:16998 biolink:NamedThing D-phenylalanine The D-enantiomer of phenylalanine. tmpaxzxjjyw_mondo_relaxed.owl phenylalanine D-form|DPN|D-PHENYLALANINE|D-Phenylalanine|(2R)-2-amino-3-phenylpropanoic acid|D-phenylalanine|D-alpha-Amino-beta-phenylpropionic acid|D-Phe owl:Class UBERON:0002133 biolink:NamedThing atrioventricular valve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013056 biolink:NamedThing developmental and epileptic encephalopathy, 39 A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial aspartate-glutamate carrier 1 deficiency|early infantile epileptic encephalopathy caused by mutation in SLC25A12|aspartate-glutamate carrier 1 deficiency|hypomyelination, global cerebral|DEE39|epileptic encephalopathy with global cerebral demyelination|epileptic encephalopathy, early infantile, 39|AGC1 deficiency|SLC25A12 early infantile epileptic encephalopathy|EIEE39 SCTID:726702005|Orphanet:353217|OMIM:612949|ICD10:G31.8|MESH:C567847|DOID:0080349|UMLS:C4512050|UMLS:C2751855 owl:Class HGNC:10982 biolink:NamedThing SLC25A12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032811 biolink:NamedThing negative regulation of epinephrine secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of epinephrine. tmpaxzxjjyw_mondo_relaxed.owl downregulation of epinephrine secretion|inhibition of epinephrine secretion|negative regulation of adrenaline secretion|down regulation of epinephrine secretion|down-regulation of epinephrine secretion owl:Class MONDO:0021630 biolink:NamedThing lipoma of face A lipoma that involves the face. tmpaxzxjjyw_mondo_relaxed.owl face lipoma SCTID:93159009|ICD9:214.0 owl:Class HP:0002226 biolink:NamedThing White eyebrow White color (lack of pigmentation) of the eyebrow. tmpaxzxjjyw_mondo_relaxed.owl Depigmented eyebrow|Blonde eyebrow|Hypopigmented eyebrow|Grey eyebrow|White eyebrow|Pale eyebrow UMLS:C4280579|UMLS:C4280580|UMLS:C1836737 HP:0004536|HP:0002228 human_phenotype owl:Class MONDO:0008158 biolink:NamedThing dacryocystitis-osteopoikilosis syndrome Dacryocystitis - osteopoikilosis is an exceedingly rare autosomal dominant disorder reported in only a few patients to date and is characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedr adiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter). tmpaxzxjjyw_mondo_relaxed.owl osteopoikilosis and dacryocystitis|dacryocystitis osteopoikilosis|Gunal-Seber-Basaran syndrome|Gunal Seber Basaran syndrome MESH:C536061|SCTID:721082002|Orphanet:1562|UMLS:C1833698|GARD:0000351|OMIM:166705 owl:Class MONDO:0002594 biolink:NamedThing monkeypox An infection that is caused by an Orthopoxvirus, which is transmitted by primates or rodents, and which is characterized by a prodromal syndrome of fever, chills, headache, myalgia, and lymphedema; initial symptoms are followed by a generalized papular rash that typically progresses from vesiculation through crusting over the course of two weeks. tmpaxzxjjyw_mondo_relaxed.owl Monkeypox virus infection|infections, Monkeypox virus GARD:0010722|UMLS:C0276180|MESH:D045908|DOID:3292|ICD9:059.01|SCTID:359814004|ICD9:136.8|NCIT:C128421|ICD10:B04 https://rarediseases.info.nih.gov/diseases/10722/monkeypox owl:Class NCBITaxon:10244 biolink:NamedThing Monkeypox virus tmpaxzxjjyw_mondo_relaxed.owl monkey pox virus GC_ID:1 ncbi_taxonomy owl:Class HGNC:23166 biolink:NamedThing PNPT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001804 biolink:NamedThing capsule of lens tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35722 biolink:NamedThing sulfated glycosaminoglycan tmpaxzxjjyw_mondo_relaxed.owl sulfated glycosaminoglycans|glycosaminoglycan sulfate|glycosaminoglycan sulfates owl:Class GO:0045779 biolink:NamedThing negative regulation of bone resorption Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of bone resorption|downregulation of bone resorption|down regulation of bone resorption|inhibition of bone resorption owl:Class MONDO:0014228 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 8 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene. tmpaxzxjjyw_mondo_relaxed.owl FECD8|AGBL1 Fuchs' endothelial dystrophy|Fuchs' endothelial dystrophy caused by mutation in AGBL1|corneal dystrophy, Fuchs endothelial, 8|corneal dystrophy, Fuchs endothelial, type 8 Orphanet:98974|OMIM:615523|UMLS:C3809798 owl:Class HGNC:26504 biolink:NamedThing AGBL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010315 biolink:NamedThing T-B+ severe combined immunodeficiency due to gamma chain deficiency Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive. tmpaxzxjjyw_mondo_relaxed.owl X-linked SCID|severe combined immunodeficiency T- B+ due to gamma chain deficiency|T-B+ severe combined immunodeficiency, X-linked|SCID-X1|severe combined immunodeficiency, X-linked|SCID, X-linked|X-linked severe combined immunodeficiency|thymic epithelial hypoplasia|immunodeficiency 4|SCIDX|XSCID|X-SCID|severe combined immunodeficiency T- B+, X-linked|T-B+ severe combined immunodeficiency due to gamma chain deficiency|severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative|SCIDX1|T-B+ SCID due to gamma chain deficiency SCTID:203592006|GARD:0005618|ICD10:D81.2|Orphanet:276|OMIM:300400|NCIT:C4682|DOID:0060013|EFO:0005555 owl:Class HP:0004430 biolink:NamedThing Severe combined immunodeficiency A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. tmpaxzxjjyw_mondo_relaxed.owl Immunodeficiency, severe combined SNOMEDCT_US:31323000|UMLS:C0085110|MSH:D016511 peter 2008-03-18T09:46:00Z human_phenotype owl:Class GO:0006935 biolink:NamedThing chemotaxis The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). tmpaxzxjjyw_mondo_relaxed.owl taxis in response to chemical stimulus owl:Class UBERON:0011166 biolink:NamedThing patellofemoral joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002446 biolink:NamedThing patella tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001735 biolink:NamedThing liquid configuration A physical quality inhering in a bearer by virtue of the bearer's parts having the arrangement which exhibits characteristics of liquids. tmpaxzxjjyw_mondo_relaxed.owl liquid owl:Class HGNC:28027 biolink:NamedThing WDPCP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006490 biolink:NamedThing vaginal squamous cell carcinoma A squamous cell carcinoma arising from the vagina. Human papillomavirus infection is associated with the development of vaginal intraepithelial neoplasia and invasive squamous cell carcinoma. Signs and symptoms include painless bleeding, postcoital bleeding, and urinary tract symptoms. Morphologically it resembles squamous cell carcinomas in other anatomic sites. Radiation therapy is the preferred treatment for most cases. The prognosis is related to the stage of the disease. tmpaxzxjjyw_mondo_relaxed.owl vaginal epidermoid cell carcinoma|vaginal squamous cell carcinoma|squamous cell carcinoma of the vagina|vagina squamous cell carcinoma|vagina epidermoid cell carcinoma|vaginal squamous cell cancer, NOS|epidermoid carcinoma of the vagina|carcinoma of vagina squamous cell|squamous cell carcinoma of the vulva/vagina|epidermoid cell carcinoma of vagina|vagina epidermoid carcinoma|epidermoid carcinoma of vagina|squamous cell carcinoma of vagina|vaginal epidermoid carcinoma|vaginal squamous cell cancer|epidermoid cell carcinoma of the vagina ONCOTREE:VSC|EFO:1000620|UMLS:C0238518|NCIT:C7736|SCTID:105121000119102 owl:Class MONDO:0015023 biolink:NamedThing MYPN-related myopathy Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions. tmpaxzxjjyw_mondo_relaxed.owl MYPN nemaline myopathy|NEM11|nemaline myopathy type 11|nemaline myopathy 11, autosomal recessive|MYPN-related myopathy|nemaline myopathy 11|nemaline myopathy caused by mutation in MYPN UMLS:C4479186|UMLS:CN240509|OMIM:617336|UMLS:C4479695|DOID:0110933 owl:Class CL:0000133 biolink:NamedThing neurectodermal cell Ectoderm destined to be nervous tissue. tmpaxzxjjyw_mondo_relaxed.owl neurectoderm cell cell owl:Class GO:0140014 biolink:NamedThing mitotic nuclear division A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. tmpaxzxjjyw_mondo_relaxed.owl mitosis owl:Class HP:0008066 biolink:NamedThing Abnormal blistering of the skin The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. tmpaxzxjjyw_mondo_relaxed.owl Blisters|Abnormal blistering of the skin|Blistering, generalized|Skin bullae|Skin blisters|Blistering, generalised|Blister UMLS:C0241054|UMLS:C2220104|UMLS:C2132198 A bulla is a large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm. In approaching blistering diseases, there are 3 fundamental criteria to consider: (1) the site or level of the blister (or the lowest level of vesiculation): subcorneal, midepidermis, suprabasal, subepidermal; (2) the findings that implicate the mechanism of blister formation (spongiosis, acantholysis, blistering degeneration, or epidermolysis); and (3) the type of inflammation (neutrophilic, lymphocytic, eosinophilic, mixed), if present. peter 2008-04-02T03:54:00Z HP:0007467|HP:0200038|HP:0007496 human_phenotype owl:Class UBERON:0006635 biolink:NamedThing anterior abdominal wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070459 biolink:NamedThing prolactin secretion The regulated release of prolactin, a peptide hormone that stimulates lactation, from secretory granules in the anterior pituitary. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011240 biolink:NamedThing megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl megalencephaly-cutis marmorata telangiectatica congenita|MCAP|M-CM|macrocephaly-capillary malformation syndrome|megalencephaly-capillary malformation syndrome|macrocephaly cutis marmorata telangiectatica congenita|megalencephaly cutis marmorata telangiectatica congenita|megalencephaly-capillary malformation-polymicrogyria syndrome|MCM|macrocephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-cutis marmorata telangiectatica congenita|M-CMTC|MCMTC|macrocephaly-capillary malformation|megalencephaly-cutis marmorata telangiectatica congenita syndrome|megalocephaly cutis marmorata telangiectatica congenita UMLS:C1865285|SCTID:703370002|ICD10:Q87.3|MESH:C536142|GARD:0006950|OMIM:602501|Orphanet:60040|ICD9:759.89 owl:Class MONDO:0043073 biolink:NamedThing Zadik-Barak-Levin syndrome tmpaxzxjjyw_mondo_relaxed.owl dermoid cysts, hypothyroidism, cleft palate and hypodontia|dermoid cysts, hypothyroidism, cleft palate, and hypodontia GARD:0000340|MESH:C536721|UMLS:C2931298 owl:Class MONDO:0002224 biolink:NamedThing malignant ovarian cyst A cystic cancerous tumor arising from the ovary. tmpaxzxjjyw_mondo_relaxed.owl malignant ovarian cyst|ovarian cyst (disease), malignant|malignant ovarian cyst (disease) UMLS:C0235770|DOID:2145|NCIT:C3843 owl:Class MONDO:0014004 biolink:NamedThing basal ganglia calcification, idiopathic, 4 tmpaxzxjjyw_mondo_relaxed.owl basal ganglia calcification, idiopathic, 4|basal ganglia calcification, idiopathic, type 4|IBGC4 UMLS:C3554321|OMIM:615007|Orphanet:1980 owl:Class HGNC:8804 biolink:NamedThing PDGFRB tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014542 biolink:NamedThing cervical division of cord spinal central canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0006476 biolink:NamedThing Abnormality of the pancreatic islet cells An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025043 peter 2008-03-28T04:41:00Z HP:0100567 human_phenotype owl:Class OBO:CHR_9606-chr5q3 biolink:NamedThing 5q3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 181538259 131200000 hg38 owl:Class MONDO:0007949 biolink:NamedThing Marshall syndrome Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis. tmpaxzxjjyw_mondo_relaxed.owl MRSHS|deafness, myopia, cataract, saddle nose-Marshall type|Marshall syndrome DOID:0111510|Orphanet:560|MESH:C536025|OMIM:154780|SCTID:33410002|GARD:0006984|ICD10:Q87.0|NCIT:C128115|UMLS:C0265235|ICD9:759.89 owl:Class HGNC:2186 biolink:NamedThing COL11A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019131 biolink:NamedThing ossification anomalies-psychomotor developmental delay syndrome Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:73230|UMLS:CN227577|ICD10:Q79.8 owl:Class MONDO:0012345 biolink:NamedThing acral peeling skin syndrome Acral peeling skin syndrome (PSS) is a form of PSS characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet. tmpaxzxjjyw_mondo_relaxed.owl PSS2|acral peeling skin syndrome|acral PSS|peeling skin syndrome type 2|localized PSS|peeling skin syndrome, acral type|acral deciduous skin|peeling skin syndrome 2|localized deciduous skin OMIM:609796|GARD:0012863|Orphanet:263534|ICD10:Q80.8|SCTID:709416009|UMLS:C1853354|MESH:C536316 https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome owl:Class HGNC:11781 biolink:NamedThing TGM5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006175 biolink:NamedThing pronephric distal tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class PO:0025131 biolink:NamedThing plant anatomical entity An anatomical entity that is or was part of a plant. tmpaxzxjjyw_mondo_relaxed.owl entidad anatómica vegetal (Spanish, exact)|植物 解剖学（形態）的実体 (Japanese, exact) PO_GIT:224 Includes both material entities such as plant structures and immaterial entities such as plant anatomical spaces. CARO:0000000 'anatomical entity' is defined as: A part of a cellular organism that is either an immaterial entity or a material entity with granularity aboove the level of a protein complex. Or, a substance produced by a cellular organism with granularity above the level of a protein complex. Refers to BFO:0000004 'independent continuant'. rwalls 2010-11-15T11:41:38Z plant_anatomy owl:Class MONDO:0006103 biolink:NamedThing benign adrenal gland pheochromocytoma A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral. tmpaxzxjjyw_mondo_relaxed.owl pheochromocytoma, benign|adrenal gland pheochromocytoma, benign|benign adrenal gland pheochromocytoma NCIT:C48305|EFO:1000106 owl:Class MONDO:0002282 biolink:NamedThing West Nile fever A mosquito-borne viral illness caused by the west nile virus, a flavivirus and endemic to regions of Africa, Asia, and Europe. Common clinical features include headache; fever; maculopapular rash; gastrointestinal symptoms; and lymphadenopathy. meningitis; encephalitis; and myelitis may also occur. The disease may occasionally be fatal or leave survivors with residual neurologic deficits. (From Joynt, Clinical Neurology, 1996, Ch26, p13; Lancet 1998 Sep 5;352(9130):767-71) tmpaxzxjjyw_mondo_relaxed.owl West Nile virus caused disease or disorder|West Nile virus infectious disease|West Nile virus disease or disorder ICD9:066.40|ICD10:A92.3|MESH:D014901|DOID:2366|SCTID:417093003|ICD10:A92.30|ICD9:066.4 owl:Class UBERON:0003959 biolink:NamedThing rete testis tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:32762 biolink:NamedThing L-tyrosinium An optically active form of tyrosinium having L-configuration. tmpaxzxjjyw_mondo_relaxed.owl L-tyrosine cation|L-tyrosinium|(1S)-1-carboxy-2-(4-hydroxyphenyl)ethanaminium owl:Class CHEBI:58315 biolink:NamedThing L-tyrosine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of L-tyrosine; major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl (2S)-2-ammonio-3-(4-hydroxyphenyl)propanoate|L-tyrosine|(2S)-2-azaniumyl-3-(4-hydroxyphenyl)propanoate owl:Class MONDO:0013114 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 50 An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has material basis in mutation in the MIRN96 gene on chromosome 7q32. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant type 50|autosomal dominant nonsyndromic deafness type 50|DFNA50|autosomal dominant deafness 50|autosomal dominant nonsyndromic deafness 50|deafness, autosomal dominant 50 ICD10:H90.3|DOID:0110576|OMIM:613074 owl:Class HGNC:31648 biolink:NamedThing MIR96 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005256 biolink:NamedThing trunk mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003281 biolink:NamedThing mesentery of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:23123 biolink:NamedThing chloroacetate A haloacetate(1-) resulting from the deprotonation of the carboxy group of chloroacetic acid. tmpaxzxjjyw_mondo_relaxed.owl Chloroacetic acid ion(1-)|chloroacetate(1-)|chloroacetate|monochloroacetate anion|monochloroacetic acid anion|mono-chloroacetate|chloroacetate anion owl:Class MONDO:0016271 biolink:NamedThing adenoid cystic carcinoma of the corpus uteri A adenoid cystic carcinoma that involves the body of uterus. tmpaxzxjjyw_mondo_relaxed.owl endometrial adenoid cystic carcinoma|body of uterus adenoid cystic carcinoma ICD10:C54.1|ICD10:C54.0|ICD10:C54.3|ICD10:C54.2|ICD10:C54.8|Orphanet:213741 owl:Class GO:0099240 biolink:NamedThing intrinsic component of synaptic membrane The component of the synaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpaxzxjjyw_mondo_relaxed.owl intrinsic to synaptic membrane owl:Class HGNC:18858 biolink:NamedThing PIGM tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:27902 biolink:NamedThing tetracycline A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria. tmpaxzxjjyw_mondo_relaxed.owl tetracyclinum|Tetracyclin|TETRACYCLINE|Tsiklomitsin|Anhydrotetracycline|Deschlorobiomycin|Abramycin|Tetrazyklin|Achromycin|tetracycline|(4S,4aS,5aS,6S,12aS)-4-(dimethylamino)-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide|Liquamycin|(4S,4aS,5aS,12aS)-4-(Dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-2-naphthacenecarboxamide|Tetracycline owl:Class MONDO:0024554 biolink:NamedThing D-2-hydroxyglutaric aciduria 1 Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene. tmpaxzxjjyw_mondo_relaxed.owl D2HGDH D-2-hydroxyglutaric aciduria|D-2-hydroxyglutaric aciduria 1|D2HGA1|D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH Orphanet:79315|DOID:0111351|UMLS:C3152055|OMIM:600721 owl:Class HGNC:28358 biolink:NamedThing D2HGDH tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0002299 biolink:NamedThing tubular A cylindrical shape that is hollow. tmpaxzxjjyw_mondo_relaxed.owl tube like|tubulate|tube-shaped owl:Class MONDO:0019209 biolink:NamedThing Japanese encephalitis A disease due to a virus transmitted by an arthropod). tmpaxzxjjyw_mondo_relaxed.owl JE|Japanese B encephalitis MESH:D004672|Orphanet:79139|MedDRA:10014596|ICD9:062.0|EFO:0007332|UMLS:C0014057|SCTID:52947006|GARD:0006797|ICD10:A83.0|NCIT:C34577|DOID:10844 https://rarediseases.info.nih.gov/diseases/6797/japanese-encephalitis owl:Class NCBITaxon:11072 biolink:NamedThing Japanese encephalitis virus tmpaxzxjjyw_mondo_relaxed.owl Japanese encephalitis (JE) virus|Japanese encephalitis virus JEV|Japanese encephalitis virus JE GC_ID:1 ncbi_taxonomy owl:Class GO:0003016 biolink:NamedThing respiratory system process A process carried out by the organs or tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. tmpaxzxjjyw_mondo_relaxed.owl respiratory gaseous exchange owl:Class MONDO:0032636 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 33 tmpaxzxjjyw_mondo_relaxed.owl MC1DN33|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 OMIM:618253 owl:Class HGNC:7690 biolink:NamedThing NDUFA6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11848 biolink:NamedThing TLR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:29202 biolink:NamedThing isocyanic acid A colourless, volatile, poisonous inorganic compound with the formula HNCO; the simplest stable chemical compound that contains carbon, hydrogen, nitrogen, and oxygen, the four most commonly-found elements in organic chemistry and biology. tmpaxzxjjyw_mondo_relaxed.owl methenamide|isocyanate|carbimide|isocyanic acid|ICA|isozyansaeure|oxidoazanediidocarbon|isocyansaeure|HNCO|[C(NH)O]|hydrogen isocyanate|HN=C=O owl:Class CHEBI:29195 biolink:NamedThing cyanate tmpaxzxjjyw_mondo_relaxed.owl cyanate|[C(N)O](-)|Cyanat|cyanate ion|nitridooxidocarbonate(1-)|OCN(-)|Zyanat owl:Class UBERON:0034705 biolink:NamedThing developing neuroepithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045766 biolink:NamedThing positive regulation of angiogenesis Any process that activates or increases angiogenesis. tmpaxzxjjyw_mondo_relaxed.owl up regulation of angiogenesis|up-regulation of angiogenesis|activation of angiogenesis|upregulation of angiogenesis|stimulation of angiogenesis owl:Class MONDO:0017838 biolink:NamedThing sclerosteosis Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure. tmpaxzxjjyw_mondo_relaxed.owl cortical hyperostosis with syndactyly|cortical hyperostosis-syndactyly syndrome OMIMPS:269500|OMIM:269500|MESH:C537525|OMIM:614305|SCTID:17568006|Orphanet:3152|ICD10:M85.2|NCIT:C131133|GARD:0004771|ICD9:756.59|DOID:0060251|UMLS:C0265301 owl:Class MONDO:0000500 biolink:NamedThing tongue squamous cell carcinoma A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis. tmpaxzxjjyw_mondo_relaxed.owl tongue squamous cell carcinoma|squamous cell carcinoma of tongue|squamous cell carcinoma of the tongue|scc of the tongue|scc of tongue|tongue scc EFO:1000055|UMLS:C0007137|NCIT:C4648|SCTID:402815007|SCTID:276952000|UMLS:C0349566|MESH:D002294|NCIT:C2929|DOID:0050865 owl:Class MONDO:0011560 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 3|SLEB3 OMIM:605480 owl:Class UBERON:0008947 biolink:NamedThing respiratory primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10591 biolink:NamedThing SCN4A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015091 biolink:NamedThing autosomal dominant spastic paraplegia type 9 Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. tmpaxzxjjyw_mondo_relaxed.owl cataracts, motor neuronopathy, short stature and skeletal abnormalities|bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy|autosomal dominant spastic paraparesis|spastic paraplegia 9|autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|ALDH18A1 autosomal dominant complex spastic paraplegia|cataracts-motor neuropathy-short stature-skeletal anomalies syndrome|SPG9 Orphanet:100990|OMIM:601162|GARD:0009583|ICD10:G11.4|MESH:C536868 owl:Class HGNC:9722 biolink:NamedThing ALDH18A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005695 biolink:NamedThing manual digit 5 mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013400 biolink:NamedThing Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the CYP11A1 gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels. tmpaxzxjjyw_mondo_relaxed.owl p450scc deficiency|XY sex reversal-adrenal failure|46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency|adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete|cholesterol side-chain cleavage deficiency|XY sex reversal-adrenal failure syndrome|46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome OMIM:613743|ICD10:Q56.1|NCIT:C131422|MESH:C566130|Orphanet:168558|DOID:0050546|UMLS:C3151055 owl:Class HGNC:2590 biolink:NamedThing CYP11A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006796 biolink:NamedThing phosphate-containing compound metabolic process The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. tmpaxzxjjyw_mondo_relaxed.owl phosphate metabolic process|phosphate metabolism owl:Class GO:0002820 biolink:NamedThing negative regulation of adaptive immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response. tmpaxzxjjyw_mondo_relaxed.owl down regulation of adaptive immune response|down-regulation of adaptive immune response|downregulation of adaptive immune response|inhibition of adaptive immune response owl:Class GO:0002250 biolink:NamedThing adaptive immune response An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). tmpaxzxjjyw_mondo_relaxed.owl immune memory response|acquired immune response owl:Class MONDO:0013186 biolink:NamedThing Noonan syndrome 6 Any Noonan syndrome in which the cause of the disease is a mutation in the NRAS gene. tmpaxzxjjyw_mondo_relaxed.owl NRAS gene related Noonan syndrome|NRAS Noonan syndrome|Noonan syndrome 6|Noonan syndrome type 6|Noonan syndrome caused by mutation in NRAS|NS6 OMIM:613224|GARD:0010701|MESH:C548084|DOID:0060584|UMLS:C2750732|Orphanet:648 https://rarediseases.info.nih.gov/diseases/10701/noonan-syndrome-6 owl:Class HGNC:7989 biolink:NamedThing NRAS tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005115 biolink:NamedThing metanephric cortical collecting duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005356 biolink:NamedThing Rathke's pouch tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004743 biolink:NamedThing pyruvate kinase activity Catalysis of the reaction: = ADP + H(+) + phosphoenolpyruvate => ATP + pyruvate. tmpaxzxjjyw_mondo_relaxed.owl ATP:pyruvate 2-O-phosphotransferase activity|phosphoenol transphosphorylase activity|phosphoenolpyruvate kinase activity owl:Class HGNC:25774 biolink:NamedThing TCTN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005660 biolink:NamedThing 2nd arch ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2001226 biolink:NamedThing negative regulation of chloride transport Any process that stops, prevents or reduces the frequency, rate or extent of chloride transport. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013377 biolink:NamedThing isolated microphthalmia 7 Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia, isolated type 7|isolated microphthalmia caused by mutation in GDF3|microphthalmia, isolated 7|isolated microphthalmia type 7|GDF3 isolated microphthalmia|MCOP7 Orphanet:2542|UMLS:C3150969|DOID:0060838|ICD10:Q11.0|OMIM:613704 owl:Class HGNC:4218 biolink:NamedThing GDF3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014186 biolink:NamedThing retinitis pigmentosa with or without situs inversus Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa caused by mutation in ARL2BP|ARL2BP retinitis pigmentosa|retinitis pigmentosa with or without situs inversus DOID:0110419|UMLS:C3809503|OMIM:615434|ICD10:H35.5 owl:Class HGNC:17146 biolink:NamedThing ARL2BP tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000608 biolink:NamedThing Macular degeneration A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. tmpaxzxjjyw_mondo_relaxed.owl Pigmented macular degeneration SNOMEDCT_US:422338006|UMLS:C0024437 HP:0007694|HP:0007868 human_phenotype owl:Class MONDO:0014396 biolink:NamedThing dilated cardiomyopathy 1NN Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RAF1 gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, type 1Nn|dilated cardiomyopathy type 1NN|cardiomyopathy, dilated, 1NN|familial isolated dilated cardiomyopathy caused by mutation in RAF1|CMD1NN|RAF1 familial isolated dilated cardiomyopathy OMIM:615916|DOID:0110432|ICD10:I42.0|UMLS:C4014656 owl:Class UBERON:0003897 biolink:NamedThing axial muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005944 biolink:NamedThing axial skeleton plus cranial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060156 biolink:NamedThing milk ejection reflex A reflex that occurs in response to suckling, beginning with a nerve impulse from a receptor in the mammary gland and ending with the ejection of milk from the gland. Signaling never reaches a level of consciousness. tmpaxzxjjyw_mondo_relaxed.owl milk ejection owl:Class UBERON:0018146 biolink:NamedThing transverse process of lumbar vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007175 biolink:NamedThing inferior angle of scapula tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011577 biolink:NamedThing myopathy, proximal, and ophthalmoplegia tmpaxzxjjyw_mondo_relaxed.owl myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|MYPOP|inclusion body myopathy 3, autosomal dominant|myopathy, proximal, and ophthalmoplegia|MYOPATHY, proximal, and ophthalmoplegia|inclusion body myopathy 3, autosomal dominant, formerly OMIM:605637|MESH:C565311|UMLS:C1854106|Orphanet:79091 owl:Class HGNC:7572 biolink:NamedThing MYH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010697 biolink:NamedThing pedal digit metatarsal cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010687 biolink:NamedThing pedal digit metatarsal pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021475 biolink:NamedThing benign neoplasm of nasal cavity A benign neoplasm that involves the nasal cavity. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the nasal cavity|benign tumor of nasal cavity|nasal cavity benign neoplasm|benign tumor of the nasal cavity|benign nasal cavity neoplasm|benign nasal cavity tumor SCTID:92241005|UMLS:C0347215|ICD9:212.0|NCIT:C4603 owl:Class UBERON:0000007 biolink:NamedThing pituitary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014949 biolink:NamedThing developmental and epileptic encephalopathy, 47 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene. tmpaxzxjjyw_mondo_relaxed.owl EIEE47|FGF12 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 47|epileptic encephalopathy, early infantile, type 47|DEE47|early infantile epileptic encephalopathy caused by mutation in FGF12|epileptic encephalopathy, early infantile, 47; EIEE47 DOID:0080425|OMIM:617166|UMLS:C4310685 owl:Class GO:0140242 biolink:NamedThing translation at postsynapse Translation that occurs at the postsynapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004206 biolink:NamedThing pulmonary vein leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the pulmonary vein. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of pulmonary vein|pulmonary vein leiomyosarcoma|leiomyosarcoma of the pulmonary vein DOID:7388|UMLS:C1335575|NCIT:C5374 owl:Class CL:0000117 biolink:NamedThing CNS neuron (sensu Vertebrata) tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0000031 biolink:NamedThing neuroblast (sensu Vertebrata) A cell that will develop into a neuron often after a migration phase. tmpaxzxjjyw_mondo_relaxed.owl neuroblast FMA:70563|BTO:0000930 CL:0000337 cell owl:Class MONDO:0012581 biolink:NamedThing osteogenesis imperfecta type 8 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene. tmpaxzxjjyw_mondo_relaxed.owl OI type VIII|osteogenesis imperfecta type 8|OI8|OI, type 8|osteogenesis imperfecta type VIII|osteogenesis imperfecta, type 8|osteogenesis imperfecta, type VIII|osteogenesis imperfecta caused by mutation in P3H1|P3H1 osteogenesis imperfecta Orphanet:216812|DOID:0110336|ICD10:Q78.0|OMIM:610915|Orphanet:216804|MESH:C536049|Orphanet:666|GARD:0010152 owl:Class HGNC:19316 biolink:NamedThing P3H1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007286 biolink:NamedThing spermatid development The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. tmpaxzxjjyw_mondo_relaxed.owl spermiogenesis|spermatid cell development owl:Class MONDO:0010761 biolink:NamedThing retinitis pigmentosa Y-linked Y-linked form of retinitis pigmentosa. tmpaxzxjjyw_mondo_relaxed.owl RPY|Y-linked retinitis pigmentosa|retinitis pigmentosa, Y-linked UMLS:C1839079|MESH:C564035|OMIM:400004|ICD10:H35.5|Orphanet:791|DOID:0110418 owl:Class HP:0001450 biolink:NamedThing Y-linked inheritance A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. tmpaxzxjjyw_mondo_relaxed.owl Y-linked MSH:D050173|UMLS:C0814045 human_phenotype owl:Class CL:0002153 biolink:NamedThing corneocyte The dead keratin-filled squamous cell of the stratum corneum. This cell type lacks a nucleus. tmpaxzxjjyw_mondo_relaxed.owl BTO:0001943|FMA:68650 tmeehan 2010-08-24T10:53:03Z cell owl:Class MONDO:0005954 biolink:NamedThing screw worm infectious disease Infection with larvae of the blow fly Cochliomyia hominivorax (Callitroga americanum), a common cause of disease in livestock in the southern and southwestern U.S.A. tmpaxzxjjyw_mondo_relaxed.owl infection, screw worm|Cochliomyia hominivorax caused disease or disorder|Cochliomyia hominivorax disease or disorder|screw worm infections|Cochliomyia hominivorax infectious disease|infections, screw worm MESH:D012610|DOID:12927|EFO:0007479 owl:Class NCBITaxon:115425 biolink:NamedThing Cochliomyia hominivorax tmpaxzxjjyw_mondo_relaxed.owl primary screw-worm GC_ID:1 ncbi_taxonomy owl:Class UBERON:0007724 biolink:NamedThing interphalangeal joint of pedal digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018112 biolink:NamedThing rectum smooth muscle tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000737 biolink:NamedThing striated muscle cell Muscle cell which has as its direct parts myofilaments organized into sarcomeres. tmpaxzxjjyw_mondo_relaxed.owl BTO:0002916|FMA:86936|CALOHA:TS-2157 cell owl:Class OBO:CHR_9606-chr11p biolink:NamedThing 11p (Human) tmpaxzxjjyw_mondo_relaxed.owl 53400000 0 hg38 owl:Class UBERON:0000400 biolink:NamedThing jejunal epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008343 biolink:NamedThing intestinal villus of jejunum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011111 biolink:NamedThing humeroradial joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002457 biolink:NamedThing intersomitic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014687 biolink:NamedThing temporal sulcus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002754 biolink:NamedThing Osteomyelitis Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. tmpaxzxjjyw_mondo_relaxed.owl Bone infection SNOMEDCT_US:60168000|UMLS:C0029443|MSH:D010019|UMLS:C2242472|SNOMEDCT_US:111253001 Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents. HP:0002755|HP:0005901 human_phenotype owl:Class MONDO:0014621 biolink:NamedThing Brugada syndrome 9 Any Brugada syndrome in which the cause of the disease is a mutation in the KCND3 gene. tmpaxzxjjyw_mondo_relaxed.owl Brugada syndrome type 9|Brugada syndrome 9|Brugada syndrome caused by mutation in KCND3|KCND3 Brugada syndrome|BRGDA9 UMLS:C4225340|ICD10:I49.8|Orphanet:130|OMIM:616399|DOID:0110226 owl:Class HGNC:6239 biolink:NamedThing KCND3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016463 biolink:NamedThing syndromic agammaglobulinemia A agammaglobulinemia that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with agammaglobulinemia|syndromic hypogammaglobulinemia|hypogammaglobulinemia|syndromic agammaglobulinemia NCIT:C26931|Orphanet:229720|UMLS:CN226939 owl:Class MONDO:0022394 biolink:NamedThing cervical intraepithelial neoplasia tmpaxzxjjyw_mondo_relaxed.owl Intraepithelial Neoplasms, Cervical|Uterine Cervix Intraepithelial Neoplasia|Cervix Intraepithelial Neoplasia|NEOPL CERVICAL INTRAEPITHELIAL|Cervical Intraepithelial Neoplasms|Cervical Intraepithelial Neoplasm|Cervical intraepithelial neoplasia|Intraepithelial Neoplasia of the Cervix|Intraepithelial Neoplasia of Cervix Uteri|Neoplasm, Cervical Intraepithelial|Cervical Intraepithelial Neoplasia|Intraepithelial Neoplasia of the Uterine Cervix|Neoplasms, Cervical Intraepithelial|Intraepithelial Neoplasia of Uterine Cervix|Neoplasia, Cervical Intraepithelial|Cervical Dysplasia|Intraepithelial Neoplasm, Cervical|Intraepithelial Neoplasia of the Cervix Uteri|Intraepithelial Neoplasia, Cervical|Cervix Uteri Intraepithelial Neoplasia|Intraepithelial Neoplasia of Cervix MEDGEN:60214|UMLS:C0206708|GARD:0009244|SCTID:285636001 owl:Class UBERON:0003957 biolink:NamedThing Bruch's membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013399 biolink:NamedThing blood vessel layer of choroid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008337 biolink:NamedThing familial pterygium of the conjunctiva Familial pterygium of the conjunctiva is a rare form of pterygium, which develops in early adulthood, characterized by a wing-like bulbar thickening of the conjunctiva in the interpalpebral fissure area that can be cured by surgical excision. tmpaxzxjjyw_mondo_relaxed.owl pterygium of conjunctiva and cornea|pterygium of the conjunctiva and cornea ICD10:H11.0|MESH:C566740|OMIM:178000|UMLS:C1867441|Orphanet:2989|GARD:0004569 owl:Class UBERON:0010061 biolink:NamedThing lumen of nasopharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013308 biolink:NamedThing CBL-related disorder CBL-related disorder is a genetic condition caused by pathogenic variants in the Cbl ubiquitin ligase gene, (CBL; HGNC:1541). Due to the proposed mechanism indicating the CBL gene's relationship to the RAS-MAPK pathway and the phenotypic presentation similar to that of the RASopathies, CBL-related disorder should be considered a RASopathy disorder. Though there is a wide spectrum of phenotypic variability, broadly, patients with CBL-related disorder have presented with developmental delay, intellectual disability, neurodevelopmental alterations, prenatal lymphatic anomalies, cardiac malformations as well as vascular anomalies particularly affecting the brain (e.g. Moya-moya arteriopathies), craniofacial features indicative of a RASopathy, hypotonia, feeding difficulties, edema of the legs, musculoskeletal and respiratory thorax abnormalities, ectodermal features including cafe-au-lait spots, immunological and hematological disorders and susceptibility to tumors diagnosed as juvenile myelomonocytic leukemia (JMML) that is usually self-remitting. Note tumor risk beyond JMML has not yet been thoroughly assessed. Due to the clinical presentation of a broad spectrum of these and other phenotypes in patients with variants in CBL, these conditions are currently defined by experts in reference to the causal gene, CBL. tmpaxzxjjyw_mondo_relaxed.owl Cbl syndrome|Cbl mutation-associated syndrome|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia|CBL-related disorder|Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia|Noonan syndrome-like disorder with JMML|NSLL|Noonan-like syndrome OMIM:613563|ICD10:Q87.1|UMLS:C4016301|UMLS:C3150803|Orphanet:363972 owl:Class HGNC:1541 biolink:NamedThing CBL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014901 biolink:NamedThing tooth agenesis, selective, 8 Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene. tmpaxzxjjyw_mondo_relaxed.owl WNT10B tooth agenesis|tooth agenesis, selective, 8; STHAG8|tooth agenesis, selective, type 8|tooth agenesis, selective, 8|STHAG8|tooth agenesis caused by mutation in WNT10B OMIM:617073|UMLS:C4310730 owl:Class MONDO:0012526 biolink:NamedThing hereditary angioedema type 3 Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpaxzxjjyw_mondo_relaxed.owl HAE3|inherited estrogen-dependent angioedema|HAE-III|hereditary angioedema type 3|angioedema, hereditary, type 3|inherited estrogen-associated angioneurotic edema|estrogen-sensitive Hae|F12 hereditary angioedema|inherited estrogen-associated angioedema|angioneurotic edema, hereditary, with normal C1 inhibitor concentration and function|HAE 3|angioedema, hereditary, type III|Hae with normal C1 inhibitor concentration and function|hereditary angioedema caused by mutation in F12|hereditary angioedema with normal C1 inhibitor activity|hereditary angioneurotic edema type 3|Hae 3|inherited estrogen-dependent angioneurotic edema|estrogen-related Hae ICD10:D84.1|Orphanet:100054|SCTID:427167008|ICD9:277.6|OMIM:610618|MESH:D056828|Orphanet:91378 owl:Class HGNC:3530 biolink:NamedThing F12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024341 biolink:NamedThing retinal cell neoplasm A neoplasm arising from the neural retina. This category includes retinoblastoma and retinocytoma. tmpaxzxjjyw_mondo_relaxed.owl retinal cell neoplasm|retinal neural cell neoplasm|retinal cell tumor NCIT:C7061|UMLS:C1335765 owl:Class UBERON:0001908 biolink:NamedThing optic tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012317 biolink:NamedThing vagina orifice tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015777 biolink:NamedThing transitional epithelium of prostatic urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014478 biolink:NamedThing rib skeletal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011138 biolink:NamedThing postcranial axial skeletal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013219 biolink:NamedThing hypophosphatemic rickets, autosomal recessive, 2 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene. tmpaxzxjjyw_mondo_relaxed.owl hypophosphatemic rickets, autosomal recessive, type 2|autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1|hypophosphatemic rickets, autosomal recessive, 2|ARHR2|ENPP1 autosomal recessive hypophosphatemic rickets MESH:C567647|Orphanet:289176|UMLS:C2750078|OMIM:613312 owl:Class HGNC:1802 biolink:NamedThing CDSN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001910 biolink:NamedThing ochronosis disorder A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis. tmpaxzxjjyw_mondo_relaxed.owl ochronosis GARD:0007231|ICD9:270.2|SCTID:410042009|ICD10:E70.29|DOID:14223|MESH:D009794|UMLS:C0028817|NCIT:C84938|HP:0030764 owl:Class HP:0030764 biolink:NamedThing Ochronosis Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028817|MSH:D009794|SNOMEDCT_US:410042009 human_phenotype owl:Class GO:0008015 biolink:NamedThing blood circulation The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. tmpaxzxjjyw_mondo_relaxed.owl hemolymph circulation owl:Class ENVO:09000004 biolink:NamedThing amount of carbon atom in environmental material The amount of a carbon atom when measured in environmental material. tmpaxzxjjyw_mondo_relaxed.owl environmental material carbon atom amount owl:Class N2dcd290805ad468192974b007c07d949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:CHR_9606-chr19 biolink:NamedThing chromosome 19 (Human) tmpaxzxjjyw_mondo_relaxed.owl 19 58617616 0 hg38 owl:Class UBERON:0004720 biolink:NamedThing cerebellar vermis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002129 biolink:NamedThing cerebellar cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045835 biolink:NamedThing negative regulation of meiotic nuclear division Any process that stops, prevents, or reduces the frequency, rate or extent of meiosis. tmpaxzxjjyw_mondo_relaxed.owl downregulation of meiosis|down regulation of meiosis|down-regulation of meiosis|negative regulation of meiosis|inhibition of meiosis owl:Class MONDO:0001358 biolink:NamedThing bronchial disorder A disease involving the bronchus. tmpaxzxjjyw_mondo_relaxed.owl bronchospasm|bronchus disease or disorder|disorder of bronchus|disease or disorder of bronchus|bronchus disease|disease of bronchus|bronchial disorder DOID:1176|NCIT:C34439|UMLS:C0006261|SCTID:41427001|EFO:1002018|MESH:D001982|ICD9:519.19 owl:Class UBERON:0006290 biolink:NamedThing scapula cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014705 biolink:NamedThing median lingual swelling epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8 biolink:NamedThing chromosome 8 (Human) tmpaxzxjjyw_mondo_relaxed.owl 8 145138636 0 hg38 owl:Class UBERON:0003507 biolink:NamedThing arm blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007076 biolink:NamedThing mitotic chromosome condensation The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014954 biolink:NamedThing Ehlers-Danlos syndrome, periodontal type 2 tmpaxzxjjyw_mondo_relaxed.owl EDSPD2|Ehlers-Danlos syndrome, periodontal type, 2 OMIM:617174 owl:Class HGNC:1247 biolink:NamedThing C1S tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019053 biolink:NamedThing peroxisomal disease A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia. tmpaxzxjjyw_mondo_relaxed.owl peroxisomal disorder|peroxisomal disease|disorder of peroxisomal function|peroxisomal function disorder NCIT:C85005|ICD10:E71.5|UMLS:C0282528|DOID:906|SCTID:238059005|ICD9:277.86|ICD10:E71.50|Orphanet:68373|ICD9:277.89 owl:Class GO:0005777 biolink:NamedThing peroxisome A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. tmpaxzxjjyw_mondo_relaxed.owl peroxisomal|peroxisome vesicle owl:Class MONDO:0005376 biolink:NamedThing membranous glomerulonephritis A slowly progressive inflammation of the glomeruli characterized by immune complex deposits at the glomerular basement membrane, resulting in a thickened membrane, and nephrotic syndrome. tmpaxzxjjyw_mondo_relaxed.owl membranous Glomerulonephropathy|membranous nephropathy ICD9:583.1|SCTID:77182004|UMLS:C0017665|DOID:10976|EFO:0004254|NCIT:C34645|ICD10:N03.2|ICD9:582.1|MESH:D015433 owl:Class UBERON:0015917 biolink:NamedThing superficial lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035549 biolink:NamedThing vasculature of integument tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042613 biolink:NamedThing MHC class II protein complex A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PO:0000019 biolink:NamedThing gynoecium primordium A floral structure primordium (PO:0025477) that is committed to the development of a gynoecium (PO:0009062). tmpaxzxjjyw_mondo_relaxed.owl portion of gynoecium primordium tissue (exact)|primordio de gineceo (Spanish, exact)|雌蕊原基(可視的） (Japanese, exact)|pistil primordium (exact) PO_GIT:465 Use carpel primordium (PO:0004703) for the primordium (PO:0025127) of an individual carpel (PO:0009030). plant_anatomy owl:Class UBERON:0012430 biolink:NamedThing tunica fibrosa of eyeball tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001773 biolink:NamedThing sclera tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr7q11.2 biolink:NamedThing 7q11.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 77900000 62100000 hg38 owl:Class OBO:CHR_9606-chr7q11 biolink:NamedThing 7q11 (Human) tmpaxzxjjyw_mondo_relaxed.owl 77900000 60100000 hg38 owl:Class MONDO:0013817 biolink:NamedThing preeclampsia/eclampsia 5 Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene. tmpaxzxjjyw_mondo_relaxed.owl preeclampsia/eclampsia 5|preeclampsia caused by mutation in Corin|PREECLAMPSIA/eclampsia 5|Corin preeclampsia|PEE5|Preeclampsia/eclampsia type 5|preeclampsia caused by mutation in CORIN|CORIN preeclampsia OMIM:614595|Orphanet:275555|UMLS:C3281288 owl:Class HGNC:19012 biolink:NamedThing CORIN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016959 biolink:NamedThing partial duplication of the long arm of chromosome 8 tmpaxzxjjyw_mondo_relaxed.owl partial duplication of chromosome 8q|partial trisomy of the long arm of chromosome 8|partial duplication of the long arm of chromosome type 8|partial trisomy of chromosome 8q Orphanet:262896 owl:Class OBO:CHR_9606-chr8q biolink:NamedThing 8q (Human) tmpaxzxjjyw_mondo_relaxed.owl 145138636 45200000 hg38 owl:Class MONDO:0012803 biolink:NamedThing diarrhea-vomiting due to trehalase deficiency This syndrome is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms. tmpaxzxjjyw_mondo_relaxed.owl isolated trehalose intolerance|trehalose intolerance|trehalase deficiency OMIM:612119|SCTID:84193000|UMLS:C0268187|Orphanet:103909|ICD10:E74.3|GARD:0010372|ICD9:271.8|MESH:C562603 owl:Class HGNC:12266 biolink:NamedThing TREH tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:24676 biolink:NamedThing hydroxybenzoic acid Any benzoic acid carrying one or more phenolic hydroxy groups on the benzene ring. tmpaxzxjjyw_mondo_relaxed.owl hydroxybenzoic acid|hydroxybenzoic acids owl:Class UBERON:0001165 biolink:NamedThing pyloric antrum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023541 biolink:NamedThing Kasznica-Carlson-Coppedge syndrome tmpaxzxjjyw_mondo_relaxed.owl Kasznica Carlson Coppedge syndrome|ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery|ectrodactyly spina bifida cardiopathy MESH:C537011|GARD:0003080|UMLS:C2931393 https://rarediseases.info.nih.gov/diseases/3080/kasznica-carlson-coppedge-syndrome owl:Class HP:0000822 biolink:NamedThing Hypertension The presence of chronic increased pressure in the systemic arterial system. tmpaxzxjjyw_mondo_relaxed.owl Systemic hypertension|Arterial hypertension|High blood pressure UMLS:C0497247|SNOMEDCT_US:24184005|MSH:D006973|SNOMEDCT_US:38341003|UMLS:C0020538 Hypertension is sustained elevation of resting systolic BP (140 mm Hg or higher), diastolic BP (90 mm Hg or higher), or both. HP:0005126|HP:0004949 human_phenotype owl:Class GO:1903108 biolink:NamedThing regulation of mitochondrial transcription Any process that modulates the frequency, rate or extent of transcription occuring in the mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl regulation of transcription from mitochondrial promoter|regulation of mitochondrial transcription owl:Class GO:0006390 biolink:NamedThing mitochondrial transcription The synthesis of RNA from a mitochondrial DNA template, usually by a specific mitochondrial RNA polymerase. tmpaxzxjjyw_mondo_relaxed.owl transcription from mitochondrial promoter owl:Class GO:0000278 biolink:NamedThing mitotic cell cycle Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. tmpaxzxjjyw_mondo_relaxed.owl mitosis owl:Class MONDO:0016007 biolink:NamedThing cocaine embryofetopathy A group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring. tmpaxzxjjyw_mondo_relaxed.owl fetal cocaine syndrome|cocaine antenatal exposure|prenatal cocaine exposure|cocaine fetopathy Orphanet:1911|GARD:0001413|SCTID:254250002|UMLS:C0432371|ICD9:760.75|ICD10:Q86.8 owl:Class MONDO:0007989 biolink:NamedThing congenital microcoria Congenital microcoria is a rare autosomal dominant ophthalmological disease caused by maldevelopment of the dilator muscle of the pupil that is characterized by small pupils (<2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma. tmpaxzxjjyw_mondo_relaxed.owl chromosome 13Q32 deletion syndrome|pinhole pupils|miosis, congenital|microcoria, congenital|Mcor|congenital miosis OMIM:156600|SCTID:400962005|GARD:0003635|MESH:C537550|Orphanet:566 https://rarediseases.info.nih.gov/diseases/3635/microcoria-congenital owl:Class UBERON:0015834 biolink:NamedThing duodenum lamina propria tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008342 biolink:NamedThing intestinal villus of duodenum tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr3p biolink:NamedThing 3p (Human) tmpaxzxjjyw_mondo_relaxed.owl 90900000 0 hg38 owl:Class HGNC:9768 biolink:NamedThing RAB28 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010700 biolink:NamedThing negative regulation of norepinephrine secretion Any process that decreases the frequency, rate or extent of the regulated release of norepinephrine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011807 biolink:NamedThing systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1|SLEH1|systemic lupus erythematosus, hemolytic Anemia-related OMIM:607279 owl:Class MONDO:0016352 biolink:NamedThing idiopathic inherited hypercalciuria tmpaxzxjjyw_mondo_relaxed.owl idiopathic hypercalciuria OMIM:143870|ICD10:E83.5|Orphanet:2197|OMIM:607258 Editor note: consider grouping class owl:Class HP:0002150 biolink:NamedThing Hypercalciuria tmpaxzxjjyw_mondo_relaxed.owl Elevated urine calcium levels|Hypercalcinuria UMLS:C0020438|SNOMEDCT_US:71938000|MSH:D053565 human_phenotype owl:Class MONDO:0009365 biolink:NamedThing hydrolethalus syndrome 1 Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene. tmpaxzxjjyw_mondo_relaxed.owl hydrolethalus syndrome caused by mutation in HYLS1|HYLS1 hydrolethalus syndrome|hydrolethalus syndrome 1|HLS1|hydrolethalus syndrome type 1 MESH:C565504|UMLS:C1856016|DOID:0111355|Orphanet:2189|OMIM:236680 owl:Class HGNC:26558 biolink:NamedThing HYLS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013290 biolink:NamedThing agammaglobulinemia 5, autosomal dominant Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the LRRC8A gene. tmpaxzxjjyw_mondo_relaxed.owl agammaglobulinemia 5, autosomal dominant|LRRC8A autosomal agammaglobulinemia|AGM5|autosomal agammaglobulinemia caused by mutation in LRRC8A|agammaglobulinemia, autosomal dominant, due to Lrrc8A defect Orphanet:33110|OMIM:613506|UMLS:C3150753|Orphanet:229717|DOID:0080588 owl:Class HGNC:19027 biolink:NamedThing LRRC8A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024312 biolink:NamedThing cancer of short bone of upper limb tmpaxzxjjyw_mondo_relaxed.owl ICD10:C40.1 owl:Class UBERON:0013630 biolink:NamedThing short bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr10p11.21-p12.31 biolink:NamedThing 10p11.21-p12.31 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class GO:0002384 biolink:NamedThing hepatic immune response An immune response taking place in the liver. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002241 biolink:NamedThing chondrocranium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004919 biolink:NamedThing external urethral sphincter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010170 biolink:NamedThing Usher syndrome type 3A Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene. tmpaxzxjjyw_mondo_relaxed.owl Usher syndrome type 3A|USH3A|Usher syndrome, type 3|Usher syndrome caused by mutation in CLRN1|Usher syndrome, type 3A|USHER syndrome, type IIIA|CLRN1 Usher syndrome|Usher syndrome type IIIA DOID:0110841|ICD10:H35.5|Orphanet:231183|Orphanet:886|UMLS:C1568248|OMIM:276902 owl:Class HGNC:12605 biolink:NamedThing CLRN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004221 biolink:NamedThing uterine corpus perivascular epithelioid cell tumor A neoplasm with perivascular epithelioid cell differentiation arising from the uterine corpus wall. tmpaxzxjjyw_mondo_relaxed.owl uterine corpus PEComa|uterus perivascular epithelioid cell tumor|body of uterus neoplasm with perivascular epithelioid cell differentiation|uterine corpus perivascular epithelioid cell tumor|uterine perivascular epithelioid cell tumor NCIT:C40180|UMLS:C1519862|DOID:7437|ONCOTREE:UPECOMA owl:Class UBERON:0003362 biolink:NamedThing epithelium of endolymphatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001860 biolink:NamedThing endolymphatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014551 biolink:NamedThing short stature with nonspecific skeletal abnormalities tmpaxzxjjyw_mondo_relaxed.owl short stature with nonspecific skeletal abnormalities|SNSK UMLS:C4225399|OMIM:616255 owl:Class HGNC:7944 biolink:NamedThing NPR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0004381 biolink:NamedThing Supravalvular aortic stenosis A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. tmpaxzxjjyw_mondo_relaxed.owl MSH:D021921|SNOMEDCT_US:268185002|UMLS:C0003499|Fyler:1430 peter 2008-03-18T08:54:00Z human_phenotype owl:Class MONDO:0024677 biolink:NamedThing pancreatic insulinoma An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. tmpaxzxjjyw_mondo_relaxed.owl insulinoma tumor suppressor GENE locus|tumor, beta-cell|adenomas, beta-cell|Insulinomas|beta-cell tumor|beta-cell adenomas|islet cell adenoma|Insulomas|beta cell tumor|tumors, beta-cell|adenoma, beta-cell|beta-cell adenoma|insulinoma|beta-cell tumors|insuloma|pancreatic insulinoma|adenoma, beta cell NCIT:C95598|DOID:3892|MESH:D007340|MedDRA:10022498|HP:0012197|EFO:0000549|GARD:0003010|SCTID:302822000|ICD10:E16.8 Editor note: NCIT definition core part identical to pancreatic insulin-producing neuroendocrine tumor. In mesh this is an adenoma owl:Class MONDO:0016050 biolink:NamedThing thiamine-responsive encephalopathy Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine. tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 SCTID:723557004|Orphanet:199348|OMIM:607483 Reason: duplicate. This will be merged with MONDO:0011841 owl:Class CHEBI:26948 biolink:NamedThing vitamin B1 Any member of the group of 1,3-thiazolium cations that exhibit biological activity against vitamin B1 deficiency in animals. Symptoms of vitamin B1 deficiency include constipation, loss of apetite, fatigue, nausea, delirium, blurry vision and muscle weakness. Severe vitamin B1 deficiency can also lead to a disease known as beriberi. Vitamin B1 consists of the vitamer thiamin and its acid, aldehyde and phosphorylated derivatives (and their corresponding ionized, salt and hydrate forms). tmpaxzxjjyw_mondo_relaxed.owl vitamin B1|vitamins B1|thiamins|vitamin B1 vitamer|thiamine|vitamin B1 vitamers|thiamines owl:Class GO:0010986 biolink:NamedThing positive regulation of lipoprotein particle clearance Any process that increases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0034381 biolink:NamedThing plasma lipoprotein particle clearance The process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpaxzxjjyw_mondo_relaxed.owl lipoprotein particle clearance owl:Class CL:0008002 biolink:NamedThing skeletal muscle fiber A transversely striated, synctial cell of skeletal muscle. It is formed when proliferating myoblasts exit the cell cycle, differentiate and fuse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0022361 biolink:NamedThing lung field tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001601 biolink:NamedThing extra-ocular muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002521 biolink:NamedThing elastic tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018352 biolink:NamedThing squamous cell carcinoma of penis A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004) tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of penis|penile squamous cell carcinoma|penis squamous cell carcinoma|PSCC|epidermoid cell carcinoma of penis|penile epidermoid carcinoma|penile squamous car.(epidermoid)|epidermoid carcinoma of penis|epidermoid carcinoma of the penis|epidermoid cell carcinoma of the penis|penile squamous cell cancer|penile squamous carcinoma (epidermoid)|squamous cell carcinoma of the penis|penile epidermoid cell carcinoma DOID:5518|ICD10:C60.9|ONCOTREE:PSCC|SCTID:403468003|UMLS:C0238348|ICD10:C60.8|ICD10:C60.2|NCIT:C7729|ICD10:C60.0|Orphanet:398058|ICD10:C60.1 owl:Class MONDO:0013653 biolink:NamedThing Parkinson disease 18, autosomal dominant, susceptibility to Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene. tmpaxzxjjyw_mondo_relaxed.owl EIF4G1 hereditary late onset Parkinson disease|hereditary late onset Parkinson disease caused by mutation in EIF4G1|PARK18|Parkinson disease 18, autosomal dominant, susceptibility to|susceptibility to autosomal dominant Parkinson disease 18 OMIM:614251|UMLS:C3280271|Orphanet:411602 owl:Class MONDO:0010995 biolink:NamedThing Charcot-Marie-Tooth disease type 1C Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF|Charcot-Marie-Tooth neuropathy, type 1C|Charcot Marie Tooth disease type 1C|HMSN IC|Charcot-Marie-Tooth neuropathy type 1C|neuropathy, hereditary motor and sensory, type 1C|neuropathy hereditary motor and sensory type 1C|CMT1C|CMT slow nerve conduction type C|HMSN 1C|LITAF Charcot-Marie-Tooth disease type 1|CMT, slow nerve conduction type C|CMT 1C|HMSN1C|Charcot-Marie-Tooth disease, demyelinating, type 1C GARD:0001247|MESH:C537984|DOID:0110151|Orphanet:101083|ICD10:G60.0|UMLS:C0270913|OMIM:601098 https://rarediseases.info.nih.gov/diseases/1247/charcot-marie-tooth-disease-type-1c owl:Class HGNC:20858 biolink:NamedThing SLC39A14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3146 biolink:NamedThing ECE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004168 biolink:NamedThing cribriform variant testicular seminoma A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in cribriform patterns and few lymphocytes. tmpaxzxjjyw_mondo_relaxed.owl testicular seminoma, cribriform variant NCIT:C40957|UMLS:C1515292|DOID:7269 owl:Class NCIT:C35920 biolink:NamedThing Cribriform Pattern tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008447 biolink:NamedThing hereditary spherocytosis type 1 Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene. tmpaxzxjjyw_mondo_relaxed.owl spherocytosis, hereditary, 1|HS1|hereditary spherocytosis caused by mutation in ANK1|ANK1 hereditary spherocytosis|hereditary spherocytosis 1|SPH1|spherocytosis, type 1|Sph Orphanet:822|UMLS:C2674218|OMIM:182900|DOID:0110916 owl:Class HGNC:492 biolink:NamedThing ANK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0150075 biolink:NamedThing negative regulation of protein-glutamine gamma-glutamyltransferase activity Any process that stops, prevents or reduces the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0003810 biolink:NamedThing protein-glutamine gamma-glutamyltransferase activity Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links. tmpaxzxjjyw_mondo_relaxed.owl fibrin stabilizing factor|glutaminylpeptide gamma-glutamyltransferase activity|R-glutaminyl-peptide:amine gamma-glutamyl transferase activity|factor XIIIa|fibrinoligase activity|protein-glutamine:amine gamma-glutamyltransferase|TGase activity|polyamine transglutaminase activity|tissue transglutaminase|transglutaminase activity owl:Class HGNC:1071 biolink:NamedThing BMP4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014105 biolink:NamedThing hypogonadotropic hypogonadism 19 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene. tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropic hypogonadism caused by mutation in DUSP6|hypogonadotropic hypogonadism 19 with or without anosmia|HH19|DUSP6 hypogonadotropic hypogonadism OMIM:615269|DOID:0090090|ICD10:E23.0|UMLS:C3808981 owl:Class HGNC:3072 biolink:NamedThing DUSP6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015880 biolink:NamedThing syndromic diaphragmatic or thoracic malformation tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226770|Orphanet:180779 owl:Class HsapDv:0000101 biolink:NamedThing 7-year-old human stage Child stage that refers to a child who is over 7 and under 8 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000085 biolink:NamedThing 6-12 year-old child stage Child stage that refers to a child who is over 6 and under 13 years old. tmpaxzxjjyw_mondo_relaxed.owl prepubescent owl:Class CL:2000053 biolink:NamedThing splenic endothelial cell Any endothelial cell that is part of a spleen. tmpaxzxjjyw_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=5500 TermGenie 2014-10-06T19:06:04Z cell owl:Class UBERON:0001394 biolink:NamedThing axillary artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001467 biolink:NamedThing shoulder tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021208 biolink:NamedThing endocrine alopecia tmpaxzxjjyw_mondo_relaxed.owl SCTID:54539003|UMLS:C0002176|ICD9:704.09 owl:Class GO:0009755 biolink:NamedThing hormone-mediated signaling pathway A series of molecular signals mediated by the detection of a hormone. tmpaxzxjjyw_mondo_relaxed.owl hormone mediated signalling owl:Class CHEBI:48705 biolink:NamedThing agonist Substance which binds to cell receptors normally responding to naturally occurring substances and which produces a response of its own. tmpaxzxjjyw_mondo_relaxed.owl agonista|agonist|agoniste|agonists owl:Class UBERON:0011108 biolink:NamedThing synovial joint of pectoral girdle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001421 biolink:NamedThing pectoral girdle region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001318 biolink:NamedThing inferior vesical vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010899 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 1 Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene. tmpaxzxjjyw_mondo_relaxed.owl CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy|ENFL1|autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4|autosomal dominant nocturnal frontal lobe epilepsy type 1|nocturnal frontal lobe epilepsy 1|epilepsy, nocturnal frontal lobe, type 1|epilepsy, nocturnal frontal lobe, 1 OMIM:600513|DOID:0060682|UMLS:C1838049|MESH:C563930|Orphanet:98784 owl:Class HGNC:1958 biolink:NamedThing CHRNA4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008798 biolink:NamedThing nonsyndromic congenital nail disorder 4 Any isolated congenital anonychia in which the cause of the disease is a mutation in the RSPO4 gene. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic congenital nail disorder type 4|isolated congenital anonychia caused by mutation in RSPO4|nonsyndromic congenital nail disorder 4|RSPO4 isolated congenital anonychia|nail disorder, nonsyndromic congenital, 4|nail disorder, nonsyndromic congenital, type 4|anonychia totalis|anonychia congenita totalis|anonychia congenita|NDNC4|HYPONYCHIA congenita|anonychia/hyponychia congenita ICD10:Q84.3|DOID:0050643|Orphanet:94150|MESH:C536377|Orphanet:79143|DOID:0080082|OMIM:206800 owl:Class HGNC:16175 biolink:NamedThing RSPO4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1990731 biolink:NamedThing UV-damage excision repair, DNA incision A process that results in the endonucleolytic cleavage of the damaged strand of DNA immediately 5' of a UV-induced damage site, and is the first part of a DNA repair process that acts on both cyclobutane pyrimidine dimers (CPDs) and pyrimidine-pyrimidone 6-4 photoproducts (6-4PPs). tmpaxzxjjyw_mondo_relaxed.owl DNA incision involved in alternative excision repair|UV-damaged DNA endonuclease-dependent excision repair, DNA incision|DNA incision involved in UV-damage excision repair|DNA incision involved in UVER|alternative excision repair, DNA incision|UVDE-dependent excision repair, DNA incision|DNA incision involved in UVDE-dependent excision repair|DNA incision involved in AER|DNA incision involved in UV-damaged DNA endonuclease-dependent excision repair|nucleic acid cleavage involved in UV-damage excision repair owl:Class UBERON:0010130 biolink:NamedThing embryonic autopod plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003924 biolink:NamedThing ventral pancreatic bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021301 biolink:NamedThing adenoma of nipple A adenoma that involves the nipple. tmpaxzxjjyw_mondo_relaxed.owl papillomatosis, subareolar duct|adenoma of the nipple|nipple adenoma|subareolar duct papillomatosis ICDO:8506/0|UMLS:C0334378|NCIT:C4192|SCTID:302829009 owl:Class MONDO:0007597 biolink:NamedThing factor VIII and Factor IX, combined deficiency of tmpaxzxjjyw_mondo_relaxed.owl factor 8 and Factor IX, combined deficiency of|F8F9D|familial multiple coagulation Factor deficiency 2|factor VIII and Factor IX, combined deficiency of|factor VIII and factor IX, combined deficiency OF MESH:C565024|UMLS:C1851376|OMIM:134510 owl:Class GO:0005355 biolink:NamedThing glucose transmembrane transporter activity Enables the transfer of the hexose monosaccharide glucose from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl lactose/glucose efflux transporter activity|galactose/glucose (methylgalactoside) porter activity|glucose permease activity owl:Class GO:1904659 biolink:NamedThing glucose transmembrane transport The process in which glucose is transported across a membrane. tmpaxzxjjyw_mondo_relaxed.owl glucose transport owl:Class NCBITaxon:33208 biolink:NamedThing Metazoa tmpaxzxjjyw_mondo_relaxed.owl Animalia|metazoans|animals|multicellular animals GC_ID:1 ncbi_taxonomy owl:Class GO:1903561 biolink:NamedThing extracellular vesicle Any vesicle that is part of the extracellular region. tmpaxzxjjyw_mondo_relaxed.owl microparticle owl:Class GO:0005576 biolink:NamedThing extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. tmpaxzxjjyw_mondo_relaxed.owl extracellular owl:Class UBERON:5001466 biolink:NamedThing pedal digit plus metapodial segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1908 biolink:NamedThing VPS13A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004851 biolink:NamedThing aorta endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002852 biolink:NamedThing mediastinum sarcoma A rare sarcoma that arises from the mediastinum. Examples include liposarcoma, leiomyosarcoma, and angiosarcoma. tmpaxzxjjyw_mondo_relaxed.owl mediastinal sarcoma|mediastinum sarcoma|sarcoma of mediastinum|sarcoma of the mediastinum UMLS:C1334678|DOID:4050|NCIT:C6606 owl:Class UBERON:5006052 biolink:NamedThing digit 5 plus metapodial segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:5003631 biolink:NamedThing pedal digit 1 plus metapodial segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013936 biolink:NamedThing peroxisome biogenesis disorder 6A (Zellweger) tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group 7|PBD6A|peroxisome biogenesis disorder, complementation group B|peroxisome biogenesis disorder 6A (Zellweger) DOID:0080481|UMLS:C3553947|MESH:C566422|OMIM:614870|Orphanet:912|NCIT:C155758 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0002916 biolink:NamedThing central sulcus tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000748 biolink:NamedThing retinal bipolar neuron A bipolar neuron found in the retina and having connections with photoreceptors cells and neurons in the inner plexiform layer. tmpaxzxjjyw_mondo_relaxed.owl owl:Class Nf76f8a168f1c46a99ffcec515a6698e3 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl CL:0002368 biolink:NamedThing respiratory epithelial cell An endo-epithelial cell of the respiratory tract. tmpaxzxjjyw_mondo_relaxed.owl airway epithelial cell BTO:0004533 tmeehan 2010-09-23T04:38:49Z cell owl:Class UBERON:0003389 biolink:NamedThing mesothelium of diaphragm tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0019017 biolink:NamedThing lymphatic vessel smooth muscle cell A smooth muscle cell that is part of any lymphatic vessel. tmpaxzxjjyw_mondo_relaxed.owl smooth muscle cell of lymphatic vessel 2020-07-21 12:29:51+00:00 owl:Class MONDO:0100449 biolink:NamedThing FLVCR1-related retinopathy with or without ataxia A disorder characterized by retinopathy with ataxia in most patients, caused by biallelic variants in the FLVCR1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive posterior column ataxia and retinitis pigmentosa|AXPC1|PCARP|ataxia, posterior column, with retinitis pigmentosa|posterior column ataxia with retinitis pigmentosa|posterior column ataxia-retinitis pigmentosa syndrome|FLVCR1 retinopathy with or without ataxia owl:Class HGNC:24682 biolink:NamedThing FLVCR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010286 biolink:NamedThing midbrain neural tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006053 biolink:NamedThing renal leiomyoma A leiomyoma that involves the kidney. tmpaxzxjjyw_mondo_relaxed.owl kidney leiomyoma|leiomyoma of kidney EFO:1000050 owl:Class MONDO:0007656 biolink:NamedThing Gerstmann-Straussler-Scheinker syndrome A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia. tmpaxzxjjyw_mondo_relaxed.owl encephalopathy subacute spongiform Gerstmann-Straussler type|Gerstmann-Straussler-Scheinker disease|subacute spongiform encephalopathy, Gerstmann-Straussler type|prion dementia|cerebral amyloid angiopathy, Prnp-related|GSD|amyloidosis cerebral with spongiform encephalopathy|cerebellar ataxia, progressive dementia, and amyloid deposits in CNS|amyloidosis, cerebral, with spongiform encephalopathy|encephalopathy, Subacute spongiform, Gerstmann-Straussler type|cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system|Gerstmann Straussler Scheinker syndrome|Gerstmann-Straussler disease MedDRA:10072075|GARD:0007690|DOID:4249|MESH:C535800|SCTID:67155006|ICD10:A81.82|ICD9:046.71|OMIM:137440|NCIT:C84727|Orphanet:356|ICD10:A81.8|UMLS:C0017495 Editor note: MESH considers as two diseases owl:Class GO:0060455 biolink:NamedThing negative regulation of gastric acid secretion Any process that decreases the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001696 biolink:NamedThing gastric acid secretion The regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpaxzxjjyw_mondo_relaxed.owl hydrochloric acid secretion owl:Class HGNC:3247 biolink:NamedThing EHHADH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009756 biolink:NamedThing Niemann-Pick disease type A Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders. tmpaxzxjjyw_mondo_relaxed.owl Niemann-Pick disease, Intermediate, protracted neurovisceral|sphingomyelinase deficiency|Niemann-PICK disease, type A|sphingomyelin lipidosis UMLS:C0268242|NCIT:C126561|Orphanet:77292|DOID:0070111|SCTID:52165006|ICD10:E75.2|MESH:D052536|GARD:0007206|OMIM:257200 owl:Class HGNC:11120 biolink:NamedThing SMPD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014187 biolink:NamedThing aortic aneurysm, familial thoracic 8 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the PRKG1 gene. tmpaxzxjjyw_mondo_relaxed.owl aortic aneurysm, familial thoracic type 8|aortic aneurysm, familial thoracic 8|familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1|AAT8|PRKG1 familial thoracic aortic aneurysm and aortic dissection UMLS:C3809513|Orphanet:91387|OMIM:615436 owl:Class HGNC:9414 biolink:NamedThing PRKG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012472 biolink:NamedThing Aicardi-Goutieres syndrome 4 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene. tmpaxzxjjyw_mondo_relaxed.owl Aicardi-Goutieres syndrome caused by mutation in RNASEH2A|AGS4|RNASEH2A-related Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 4|RNASEH2A Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome 4 UMLS:C1835912|GARD:0010896|Orphanet:51|MESH:C563681|OMIM:610333 owl:Class HGNC:18518 biolink:NamedThing RNASEH2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004340 biolink:NamedThing allantois tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005746 biolink:NamedThing mitochondrial respirasome The protein complexes that form the mitochondrial electron transport system (the respiratory chain), associated with the inner mitochondrial membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial respirasome|mitochondrial respiratory supercomplex|mitochondrial respiratory chain|mitochondrial electron transport chain|mitochondrial respiratory chain supercomplex owl:Class UBERON:0004204 biolink:NamedThing outer medullary collecting duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013215 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 79 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive type 79|TPRN autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 79|autosomal recessive nonsyndromic deafness 79|autosomal recessive nonsyndromic deafness type 79|autosomal recessive nonsyndromic deafness caused by mutation in TPRN|autosomal recessive deafness 79|DFNB79 MESH:C567651|DOID:0110526|UMLS:C2750082|ICD10:H90.3|OMIM:613307 owl:Class HGNC:26894 biolink:NamedThing TPRN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004837 biolink:NamedThing neurofibroma of the esophagus A non-metastasizing encapsulated neoplasm arising from nerves in the esophagus. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. tmpaxzxjjyw_mondo_relaxed.owl esophagus neurofibroma|esophageal neurofibroma|neurofibroma of esophagus|neurofibroma of the esophagus DOID:961|UMLS:C1333463|NCIT:C5704 owl:Class UBERON:0001423 biolink:NamedThing radius bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19077 biolink:NamedThing NCR3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021969 biolink:NamedThing Banti syndrome A syndrome characterized by hypochromic anemia with leukopenia, splenomegaly, late onset hepatic cirrhosis and death from gastric hemorrhages. tmpaxzxjjyw_mondo_relaxed.owl Banti's disease|Banti's syndrome|idiopathic portal hypertension|idiopathic congestive splenomegaly MESH:C537903|GARD:0005888 https://rarediseases.info.nih.gov/diseases/5888/bantis-syndrome owl:Class MONDO:0001529 biolink:NamedThing pancytopenia A finding of low numbers of red and white blood cells and platelets in the peripheral blood. tmpaxzxjjyw_mondo_relaxed.owl DOID:12450|NCIT:C34889|MESH:D010198|ICD10:D61.81|SCTID:127034005|ICD9:284.1|ICD9:284.89|UMLS:C0030312 owl:Class MONDO:0010032 biolink:NamedThing Sjogren-Larsson-like ichthyosis without CNS or eye involvement tmpaxzxjjyw_mondo_relaxed.owl Sjogren-Larsson-like ichthyosis without CNS or eye involvement|ichthyosis, Sjogren-Larsson-like, without CNS or eye involvement|Sjogren-Larsson-like syndrome MESH:C536668|OMIM:270220|UMLS:C1849195|GARD:0004885 owl:Class UBERON:0014930 biolink:NamedThing perivascular space tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009919 biolink:NamedThing ureter smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011417 biolink:NamedThing hemochromatosis type 3 Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. tmpaxzxjjyw_mondo_relaxed.owl hemochromatosis type 3|TFR2 hereditary hemochromatosis|hemochromatosis, type 3|TFR2-related hemochromatosis|hemochromatosis due to defect in transferrin receptor 2|hereditary hemochromatosis caused by mutation in TFR2|HFE3 DOID:0111030|ICD10:E83.1|OMIM:604250|Orphanet:225123|GARD:0010093|SCTID:719974003|UMLS:C1858664|MESH:C537248 https://rarediseases.info.nih.gov/diseases/10093/hemochromatosis-type-3 owl:Class GO:0099571 biolink:NamedThing postsynaptic cytoskeleton The portion of the cytoskeleton contained within the postsynapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2001223 biolink:NamedThing negative regulation of neuron migration Any process that stops, prevents or reduces the frequency, rate or extent of neuron migration. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of neuronal migration|negative regulation of neuron chemotaxis|negative regulation of neuron guidance owl:Class GO:0001764 biolink:NamedThing neuron migration The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature. tmpaxzxjjyw_mondo_relaxed.owl neuron chemotaxis|neuron guidance|neuronal migration owl:Class UBERON:0001716 biolink:NamedThing secondary palate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054698 biolink:NamedThing proteasome-associated autoinflammatory syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl proteasome-associated autoinflammatory syndrome 1|JMP syndrome|joint contractures, muscular atrophy, microcytic Anemia, and panniculitis-induced lipodystrophy|proteasome-associated autoinflammatory syndrome 1, digenic|PRAAS1|autoinflammation, lipodystrophy, and dermatosis syndrome|chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|Nakajo-Nishimura syndrome OMIM:256040 owl:Class HGNC:9545 biolink:NamedThing PSMB8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003704 biolink:NamedThing intrahepatic bile duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:77941 biolink:NamedThing EC 3.5.1.4 (amidase) inhibitor An EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor that interferes with the action of amidase (EC 3.5.1.4). tmpaxzxjjyw_mondo_relaxed.owl amidohydrolase inhibitors|acylamidase inhibitors|acylamidase inhibitor|EC 3.5.1.4 (amidase) inhibitors|EC 3.5.1.4 inhibitor|N-acetylaminohydrolase inhibitors|amidohydrolase inhibitor|EC 3.5.1.4 inhibitors|amidase inhibitors|deaminase inhibitor|amidase (EC 3.5.1.4) inhibitors|amidase inhibitor|N-acetylaminohydrolase inhibitor|amidase (EC 3.5.1.4) inhibitor|acylamide amidohydrolase inhibitor|acylamide amidohydrolase inhibitors|fatty acylamidase inhibitors|deaminase inhibitors|fatty acylamidase inhibitor owl:Class OBO:CHR_9606-chr7 biolink:NamedThing chromosome 7 (Human) tmpaxzxjjyw_mondo_relaxed.owl 7 159345973 0 hg38 owl:Class UBERON:0000995 biolink:NamedThing uterus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020738 biolink:NamedThing multiple benign circumferential skin creases on limbs 1 tmpaxzxjjyw_mondo_relaxed.owl CSCSC1|skin creases, congenital symmetric circumferential, 1 Orphanet:2505|OMIM:156610|UMLS:C0473586 owl:Class HGNC:20778 biolink:NamedThing TUBB tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8565 biolink:NamedThing PABPN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100438 biolink:NamedThing AIPL1-related retinopathy A retinopathy caused by biallelic variants in the AIPL1 gene. tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy, AIPL1-related|cone-rod dystrophy|Leber congenital amaurosis caused by mutation in AIPL1|AIPL1 Leber congenital amaurosis|LCA4|Leber congenital amaurosis 4|AIPL1 retinopathy|Leber congenital amaurosis type 4|retinitis pigmentosa, juvenile|amaurosis congenita of Leber, type 4|retinitis pigmentosa, juvenile, AIPL1-related http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class HGNC:359 biolink:NamedThing AIPL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022518 biolink:NamedThing autoimmune inner ear disease A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible. tmpaxzxjjyw_mondo_relaxed.owl AIED GARD:0008582 owl:Class HGNC:14025 biolink:NamedThing SLC5A7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060005 biolink:NamedThing vestibular reflex A reflex process in which a response to an angular or linear acceleration stimulus begins with an afferent nerve impulse from a receptor in the inner ear and ends with the compensatory action of eye muscles. Signaling never reaches a level of consciousness. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010848 biolink:NamedThing radius-ulna cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001788 biolink:NamedThing outer limiting layer of retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006686 biolink:NamedThing spinal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004619 biolink:NamedThing phosphoglycerate mutase activity Catalysis of the reaction: 2-phospho-D-glycerate = 3-phospho-D-glycerate. tmpaxzxjjyw_mondo_relaxed.owl MPGM|monophosphoglycerate mutase activity|D-phosphoglycerate 2,3-phosphomutase activity|monophosphoglyceromutase activity|diphosphoglycomutase|bisphosphoglyceromutase|PGA mutase activity|GriP mutase|PGAM activity|PGM|phosphoglyceromutase activity|phosphoglycerate phosphomutase activity owl:Class UBERON:0001958 biolink:NamedThing terminal bronchiole epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005971 biolink:NamedThing amniotic fold tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004874 biolink:NamedThing somatopleure tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004466 biolink:NamedThing musculature of leg tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011176 biolink:NamedThing intestinal hypomagnesemia 1 Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications. tmpaxzxjjyw_mondo_relaxed.owl TRPM6 primary hypomagnesemia|hypomagnesemia 1, intestinal|hypomagnesemia caused by selective magnesium malabsorption|TRPM6 familial primary hypomagnesemia|primary hypomagnesemia caused by mutation in TRPM6|PHSH|familial primary hypomagnesemia caused by mutation in TRPM6|hypomagnesemia with secondary hypocalcemia|primary hypomagnesemia with secondary hypocalcemia|hypomagnesemic tetany|HOMG1|intestinal hypomagnesemia type 1|hypomagnesemia intestinal type 1|Homg|intestinal hypomagnesemia with secondary hypocalcemia|HSH|hypomagnesemia, intestinal, with secondary hypocalcemia DOID:0060883|ICD10:E83.4|GARD:0013072|OMIM:602014|MESH:C566593|SCTID:190856003|UMLS:C1865974|Orphanet:30924 owl:Class HGNC:17995 biolink:NamedThing TRPM6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016684 biolink:NamedThing anaplastic astrocytoma Anaplastic astrocytoma is a rare, high-grade, malignant glial tumor, histologically characterized by abundance of pleomorphic astrocytes and multiple mitotic figures, often associated with diffuse infiltration of the surrounding tissue, considerable edema and mass effect and involvement of the contralateral brain. Depending on the primary localization of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), seizures, progressive neurological deficits, and/or behavioral changes. The tumor is most commonly localized in the frontal and temporal lobes, brain stem and spinal cord. tmpaxzxjjyw_mondo_relaxed.owl grade III astrocytic tumor|grade III astrocytic neoplasm|astrocytoma, anaplastic, malignant|malignant astrocytoma|anaplastic astrocytoma|grade III astrocytoma ONCOTREE:AASTR|EFO:0002499|ICD10:C71.9|MESH:D001254|NCIT:C9477|DOID:3078|MedDRA:10060971|GARD:0005860|ICDO:9401/3|MedDRA:10002224|Orphanet:251589|UMLS:C0334579 owl:Class GO:0033578 biolink:NamedThing protein glycosylation in Golgi The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. tmpaxzxjjyw_mondo_relaxed.owl protein amino acid glycosylation in Golgi|terminal glycosylation owl:Class GO:0005794 biolink:NamedThing Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. tmpaxzxjjyw_mondo_relaxed.owl Golgi complex|Golgi ribbon|Golgi owl:Class ENVO:01001273 biolink:NamedThing liquid layer A layer which is primarily composed of some liquid material. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011346 biolink:NamedThing xanthinuria type II Type II xanthinuria, a type of classical xanthinuria, is a rare autosomal recessive disorder of purine metabolism characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic. tmpaxzxjjyw_mondo_relaxed.owl type II xanthinuria|xanthinuria type 2|XAN2|xanthine dehydrogenase and aldehyde oxidase, combined deficiency of|XDH and AOX dual deficiency|type 2 xanthinuria|xanthinuria, type II|xanthine dehydrogenase and aldehyde oxidase combined deficiency of|xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency|xanthinuria, type 2 GARD:0005620|MESH:C566358|ICD10:E79.8|Orphanet:93602|UMLS:C1863688|Orphanet:3467|OMIM:603592 https://rarediseases.info.nih.gov/diseases/5620/xanthinuria-type-2 owl:Class HGNC:18234 biolink:NamedThing MOCOS tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:989 biolink:NamedThing BCL10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001802 biolink:NamedThing posterior segment of eyeball tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CARO_0010000 biolink:NamedThing multicellular anatomical structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:2000364 biolink:NamedThing hypural tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003061 biolink:NamedThing blood island tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002609 biolink:NamedThing neuron of cerebral cortex A CNS neuron of the cerebral cortex. tmpaxzxjjyw_mondo_relaxed.owl cortical neuron BTO:0004102|FMA:84104 tmeehan 2011-03-06T07:37:08Z cell owl:Class MONDO:0009203 biolink:NamedThing focal facial dermal dysplasia type III Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis. tmpaxzxjjyw_mondo_relaxed.owl bitemporal forceps marks syndrome|FFDD type 2|focal facial dermal dysplasia type 2|bitemporal forceps Marks syndrome|focal Facial dermal dysplasia, type II|focal Facial dermal dysplasia, type II, formerly|facial ectodermal dysplasia|focal facial dermal dysplasia type III|focal facial dermal dysplasia 3, Setleis type|Setleis syndrome|FFDD type III|FFDD3 OMIM:227260|ICD10:Q82.8|SCTID:403771007|GARD:0000121|Orphanet:1807|Orphanet:398166 owl:Class HGNC:20670 biolink:NamedThing TWIST2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010496 biolink:NamedThing X-linked intellectual disability-short stature-overweight syndrome X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterized by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioral problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consitent pattern has been noted. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked type 12|intellectual disability, X-linked 35|intellectual disability, X-linked type 12|intellectual disability, X-linked 12|mental retardation, X-linked 35|MRX12|mental retardation, X-linked 12 Orphanet:457240|UMLS:C0796218|OMIM:300957 owl:Class HGNC:19073 biolink:NamedThing THOC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:OBA_VT0010454 biolink:NamedThing organism trait The quality when measured in multicellular organism. tmpaxzxjjyw_mondo_relaxed.owl multicellular organism quality owl:Class MONDO:0013806 biolink:NamedThing familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome tmpaxzxjjyw_mondo_relaxed.owl telangiectasia, cutaneous, and cancer syndrome, familial|FCTCS|cutaneous telangiectasia and cancer syndrome, familial|familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome|familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome OMIM:614564|Orphanet:313846|UMLS:C3281203 owl:Class MONDO:0003030 biolink:NamedThing endometrioid stromal sarcoma of the cervix A rare sarcoma that arises from the cervix. This category includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma. tmpaxzxjjyw_mondo_relaxed.owl endometrioid stromal sarcoma of the cervix|uterine cervix endometrioid stromal sarcoma|endometrial stromal sarcoma of the cervix|endometrioid stromal sarcoma of uterine cervix|cervical endometrial stromal sarcoma UMLS:C3642326|NCIT:C40220|DOID:4520 owl:Class MONDO:0013630 biolink:NamedThing Meckel syndrome, type 9 Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene. tmpaxzxjjyw_mondo_relaxed.owl Meckel syndrome caused by mutation in B9D1|B9D1 Meckel syndrome|MKS9|Meckel syndrome, type 9 Orphanet:564|OMIM:614209|UMLS:C3280155 owl:Class OBO:CHR_9606-chr16q24.1 biolink:NamedThing 16q24.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 87000000 84100000 hg38 owl:Class MONDO:0003374 biolink:NamedThing laryngeal leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the larynx. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl laryngeal leiomyosarcoma|leiomyosarcoma of the larynx|larynx leiomyosarcoma|leiomyosarcoma of larynx UMLS:C1334371|NCIT:C6022|DOID:5288 owl:Class UBERON:0004893 biolink:NamedThing interalveolar septum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007721 biolink:NamedThing interphalangeal joint of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12442 biolink:NamedThing TYR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003014 biolink:NamedThing rhinitis An inflammation of the mucous membrane lining the nose, usually associated with nasal discharge. tmpaxzxjjyw_mondo_relaxed.owl runny nose|nasal cavity mucosa inflammation|inflammation of nasal cavity mucosa DOID:4483|UMLS:C0035455|EFO:0008521|MESH:D012220|ICD10:J30|SCTID:70076002|NCIT:C34986 owl:Class MONDO:0014273 biolink:NamedThing microcephaly-thin corpus callosum-intellectual disability syndrome Microcephaly-thin corpus callosum-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disease characterized by progressive postnatal microcephaly and global developmental delay, as well as moderate to profound intellectual disability, difficulty or inability to walk, pyramidal signs (including spasticity, hyperreflexia and extensor plantar response) and thin corpus callosum revealed by brain imaging. Ophthalmologic signs (including nystagmus, strabismus and abnormal retinal pigmentation), foot deformity and genital anomalies may also be associated. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal recessive 40|MRT40|intellectual disability, autosomal recessive type 40|mental retardation, autosomal recessive 40|microcephaly-thin corpus callosum-intellectual disability syndrome|mental retardation, autosomal recessive type 40 UMLS:C3810080|ICD10:Q87.8|Orphanet:397951|OMIM:615599 owl:Class CHEBI:46967 biolink:NamedThing L-erythro-sphingosine A (2R,3S)-2-aminooctadec-4-ene-1,3-diol in which the double bond has E geochemistry. tmpaxzxjjyw_mondo_relaxed.owl L-erythro-sphing-4-enine|(2R,3S,4E)-2-aminooctadec-4-ene-1,3-diol|L-Erythro-c18-sphingosine owl:Class UBERON:0001897 biolink:NamedThing dorsal plus ventral thalamus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017832 biolink:NamedThing mycobacterium xenopi infection A disease caused by infection with Mycobacterium xenopi. tmpaxzxjjyw_mondo_relaxed.owl Mycobacterium xenopi caused disease or disorder|Mycobacterium xenopi|M. xenopi|Mycobacterium xenopi disease or disorder|Mycobacterium xenopi infectious disease ICD10:A31.8|Orphanet:314946|GARD:0010550|UMLS:C0275715 owl:Class MONDO:0021253 biolink:NamedThing gallbladder neoplasm A neoplasm (disease) that involves the gall bladder. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of gall bladder|tumor of gallbladder|gall bladder neoplasm|neoplasm of gallbladder|gall bladder neoplasm (disease)|tumor of gall bladder|gall bladder tumor|gallbladder tumor|tumor of the gallbladder|neoplasm of the gallbladder NCIT:C3048|UMLS:C0016978 owl:Class UBERON:0005606 biolink:NamedThing hyaloid cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014410 biolink:NamedThing spinocerebellar ataxia type 37 Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia with altered vertical eye movements|SCA37|spinocerebellar ataxia 37 UMLS:C3889636|Orphanet:363710|GARD:0012368|UMLS:C4304821|SCTID:719301002|ICD10:G11.8|OMIM:615945|DOID:0050984 owl:Class HGNC:2661 biolink:NamedThing DAB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011915 biolink:NamedThing mitral valve prolapse, myxomatous 2 tmpaxzxjjyw_mondo_relaxed.owl mitral valve prolapse, myxomatous 2|mitral valve prolapse 2|MVP2|MMVP2|myxomatous mitral valve prolapse 2 UMLS:C1843003|OMIM:607829|MESH:C564326 owl:Class UBERON:0002193 biolink:NamedThing hemolymphoid system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008255 biolink:NamedThing right clavicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005802 biolink:NamedThing hymenolepiasis A parasitic infection caused by tapeworms. Most infected individuals do not have symptoms. When symptoms appear, they include diarrhea, abdominal pain, restlessness, and irritability. tmpaxzxjjyw_mondo_relaxed.owl hymenolepiasis|Hymenolepis infectious disease|dwarf tapeworm infection|Hymenolepsis infection ICD10:B71.0|NCIT:C84768|UMLS:C0277045|MESH:D006925|SCTID:44917000|UMLS:C0020413|DOID:10074|EFO:0007317|GARD:0002787|Orphanet:401|MedDRA:10020546|ICD9:123.6 https://rarediseases.info.nih.gov/diseases/2787/hymenolepiasis owl:Class MONDO:0020021 biolink:NamedThing diaphragmatic or abdominal wall malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98043 owl:Class MONDO:0013955 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12RB1 gene. tmpaxzxjjyw_mondo_relaxed.owl Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency|IMD30|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1|MSMD due to complete IL12RB1 deficiency|Mendelian susceptibility to mycobacterial infections due to IL12 deficiency|MSMD due to complete interleukin 12 receptor beta 1 deficiency|IL-12Râ1 deficiency|immunodeficiency 30|IL12RB1 deficiency|IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|immunodeficiency type 30 Orphanet:319552|UMLS:C4013949|GARD:0010984|OMIM:614891|ICD10:D84.8 owl:Class HGNC:5971 biolink:NamedThing IL12RB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013348 biolink:NamedThing cone-rod dystrophy 15 Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 65|cone-rod dystrophy 15|cone-rod dystrophy caused by mutation in CDHR1|CDHR1 cone-rod dystrophy|cone-rod dystrophy type 15|CORD15 DOID:0111021|OMIM:613660|UMLS:C3150912|Orphanet:791|Orphanet:1872 owl:Class HGNC:14550 biolink:NamedThing CDHR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:22271 biolink:NamedThing aflatoxin Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis(dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins tmpaxzxjjyw_mondo_relaxed.owl aflatoxins owl:Class CHEBI:25442 biolink:NamedThing mycotoxin Poisonous substance produced by fungi. tmpaxzxjjyw_mondo_relaxed.owl fungal toxins|mycotoxins owl:Class GO:1904172 biolink:NamedThing positive regulation of bleb assembly Any process that activates or increases the frequency, rate or extent of bleb assembly. tmpaxzxjjyw_mondo_relaxed.owl upregulation of cell blebbing|positive regulation of cell blebbing|up regulation of cell blebbing|upregulation of bleb assembly|activation of bleb assembly|up regulation of bleb assembly|up-regulation of cell blebbing|up-regulation of bleb assembly|activation of cell blebbing owl:Class GO:0032060 biolink:NamedThing bleb assembly The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. tmpaxzxjjyw_mondo_relaxed.owl blebbing|plasma membrane bleb assembly|cell blebbing|plasma membrane blebbing|membrane blebbing owl:Class MONDO:0013785 biolink:NamedThing intellectual disability, autosomal recessive 34 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal recessive type 34|intellectual disability, autosomal recessive 34, with variant lissencephaly|mental retardation, autosomal recessive type 34|MRT34|intellectual disability, autosomal recessive 34|mental retardation, autosomal recessive 34|autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD|CRADD autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 34, with variant lissencephaly UMLS:C3281044|NCIT:C153179|OMIM:614499 owl:Class HGNC:2340 biolink:NamedThing CRADD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014020 biolink:NamedThing hereditary spastic paraplegia 55 tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spastic paraplegia type 55|autosomal recessive spastic paraplegia 55|hereditary spastic paraplegia type 55|spastic paraplegia 55, autosomal recessive|SPG55 ICD10:G11.4|OMIM:615035|Orphanet:320375|UMLS:C4510214|UMLS:C3539506|SCTID:723825006|DOID:0110807 owl:Class HGNC:26784 biolink:NamedThing MTRFR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002672 biolink:NamedThing acinar prostate adenocarcinoma, signet ring variant A morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of signet ring malignant cells. tmpaxzxjjyw_mondo_relaxed.owl signet Ring cell carcinoma of the prostate|prostate signet Ring cell carcinoma|signet Ring cell carcinoma of prostate|prostate signet ring cell carcinoma|prostate signet ring cell adenocarcinoma|acinar prostate adenocarcinoma, signet Ring variant|prostate gland signet ring cell carcinoma NCIT:C5535|UMLS:C1335520|DOID:3504 owl:Class UBERON:0005989 biolink:NamedThing atrioventricular septum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002078 biolink:NamedThing right cardiac atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014970 biolink:NamedThing spermatogenic failure 17 Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene. tmpaxzxjjyw_mondo_relaxed.owl azoospermia caused by mutation in PLCZ1|spermatogenic failure 17; SPGF17|SPGF17|Male infertility due to oocyte Activation failure|spermatogenic failure type 17|spermatogenic failure 17|PLCZ1 azoospermia DOID:0070174|OMIM:617214|UMLS:C4310666 owl:Class HGNC:19218 biolink:NamedThing PLCZ1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:84735 biolink:NamedThing algal metabolite Any eukaryotic metabolite produced during a metabolic reaction in algae including unicellular organisms like chlorella and diatoms to multicellular organisms like giant kelps and brown algae. tmpaxzxjjyw_mondo_relaxed.owl algal metabolites owl:Class MONDO:0014984 biolink:NamedThing lung disease, immunodeficiency, and chromosome breakage syndrome; tmpaxzxjjyw_mondo_relaxed.owl LICS|lung disease, immunodeficiency, and chromosome breakage syndrome UMLS:C4310653|OMIM:617241 owl:Class HGNC:7677 biolink:NamedThing NSMCE3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024471 biolink:NamedThing non-inflammatory vasculopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:496924 owl:Class GO:0099569 biolink:NamedThing presynaptic cytoskeleton The portion of the cytoskeleton contained within the presynapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006538 biolink:NamedThing respiratory system fluid/secretion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020485 biolink:NamedThing King-Denborough syndrome King-Denborough syndrome is a rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use. tmpaxzxjjyw_mondo_relaxed.owl anesthetic-induced malignant hyperpyrexia in children|Noonan like contracture myopathy hyperpyrexia|Koussef-Nichols syndrome|King Denborough syndrome|Kousseff Nichols syndrome Orphanet:99741|GARD:0008561|OMIM:145600|SCTID:764957003|MESH:C536883|GARD:0008433|ICD10:G71.2|MESH:C537504 https://rarediseases.info.nih.gov/diseases/8561/kousseff-nichols-syndrome owl:Class GO:0060784 biolink:NamedThing regulation of cell proliferation involved in tissue homeostasis Any process that modulates the frequency, rate or extent of cell proliferation resulting in the maintenance of a steady-state number of cells within a tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11723 biolink:NamedThing Simian immunodeficiency virus tmpaxzxjjyw_mondo_relaxed.owl CIV|Chimpanzee immunodeficiency virus (SIV(CPZ))|SIV|Chimpanzee immunodeficiency virus|simian immunodeficiency viruses SIV|Simian immunodeficiency virus SIVcpz|simian immunodeficiency virus SIV|simian immunodeficiency virus, SIV GC_ID:1 NCBITaxon:11740|NCBITaxon:11677|NCBITaxon:11739 ncbi_taxonomy owl:Class MONDO:0014967 biolink:NamedThing heterotaxy, visceral, 8, autosomal Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene. tmpaxzxjjyw_mondo_relaxed.owl visceral heterotaxy caused by mutation in PKD1L1|PKD1L1 visceral heterotaxy|heterotaxy, visceral, 8, autosomal|HTX8|heterotaxy, visceral, 8, autosomal; HTX8 UMLS:C4310668|OMIM:617205 owl:Class HGNC:18053 biolink:NamedThing PKD1L1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001720 biolink:NamedThing cochlear nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004452 biolink:NamedThing carpal region tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000670 biolink:NamedThing primordial germ cell A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells. tmpaxzxjjyw_mondo_relaxed.owl gonocyte|primitive germ cell FMA:70567 cell owl:Class MONDO:0004108 biolink:NamedThing diaphragma sellae meningioma A meningioma that affects the diaphragma sellae. tmpaxzxjjyw_mondo_relaxed.owl diaphragma sellae meningioma (disease)|meningioma of diaphragm sellae|diaphragm sellae meningioma|meningioma of Diaphragma sellae|meningioma of the diaphragm sellae|meningioma of the Diaphragma sellae|meningioma (disease) of diaphragma sellae NCIT:C5283|UMLS:C1333283|DOID:7103 owl:Class UBERON:0035416 biolink:NamedThing diaphragma sellae tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0029133 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal dominant 4 tmpaxzxjjyw_mondo_relaxed.owl LGMDD4|muscular dystrophy, limb-girdle, type 1I|muscular dystrophy, limb-girdle, autosomal dominant 4 OMIM:618129 owl:Class HGNC:1480 biolink:NamedThing CAPN3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:37022 biolink:NamedThing amino-acid anion tmpaxzxjjyw_mondo_relaxed.owl amino-acid anion|amino acid anions|amino-acid anions owl:Class UBERON:0005363 biolink:NamedThing inferior vagus X ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032609 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 4 tmpaxzxjjyw_mondo_relaxed.owl MC1DN4|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 OMIM:618225 owl:Class HGNC:7716 biolink:NamedThing NDUFV1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0012211 biolink:NamedThing Abnormal renal physiology An abnormal functionality of the kidney. tmpaxzxjjyw_mondo_relaxed.owl Renal functional abnormality|Kidney function issue|Abnormality of renal physiology|Abnormal renal function|Abnormal kidney function UMLS:C0151746|SNOMEDCT_US:39539005 peter 2013-03-14T07:43:34Z HP:0000082|HP:0000087|HP:0005566|HP:0008646 human_phenotype owl:Class MONDO:0012894 biolink:NamedThing osteoarthritis susceptibility 6 tmpaxzxjjyw_mondo_relaxed.owl OS6|osteoarthritis susceptibility 6|osteoarthritis of knee UMLS:C0409959|OMIM:612401|SCTID:239873007|ICD9:715.96 owl:Class MONDO:0009725 biolink:NamedThing nemaline myopathy 2 An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness. tmpaxzxjjyw_mondo_relaxed.owl NEM2|nemaline myopathy type 2|NEB nemaline myopathy|nemaline myopathy 2|nemaline myopathy caused by mutation in NEB|nemaline myopathy 2, autosomal recessive MESH:C538349|DOID:0110928|Orphanet:607|UMLS:C1850569|OMIM:256030|UMLS:CN187052|NCIT:C118784 owl:Class HGNC:7720 biolink:NamedThing NEB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012415 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene. tmpaxzxjjyw_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2|progressive external ophthalmoplegia, autosomal dominant 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4|PEOA4|POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Orphanet:254892|UMLS:C1864668|MESH:C566437|DOID:0111525|OMIM:610131 owl:Class HGNC:9180 biolink:NamedThing POLG2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000459 biolink:NamedThing uterine wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001125 biolink:NamedThing acute gonococcal epididymo-orchitis Acute form of gonococcal epididymo-orchitis. tmpaxzxjjyw_mondo_relaxed.owl gonococcal epididymo-orchitis (acute)|gonococcal epididymo-orchitis, acute DOID:10802|UMLS:C0153193|SCTID:30168008|ICD9:098.13 owl:Class HGNC:3097 biolink:NamedThing DYSF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006576 biolink:NamedThing Ludwig's angina Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl cellulitis of floor of mouth|cellulitis (disease) of mouth floor|Ludwig angina|mouth floor cellulitis (disease) EFO:1000730|SCTID:196542004|UMLS:C3247204|UMLS:C0024081|ICD9:528.3|MESH:D008158|Wikipedia:Ludwig's_angina|DOID:4558 owl:Class UBERON:0003679 biolink:NamedThing mouth floor tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014070 biolink:NamedThing oculocutaneous albinism type 7 Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination. tmpaxzxjjyw_mondo_relaxed.owl albinism, oculocutaneous, type 7|albinism, oculocutaneous, type VII|oculocutaneous albinism caused by mutation in LRMDA|OCA7|LRMDA oculocutaneous albinism|oculocutaneous albinism type VII Orphanet:352745|UMLS:CN204524|OMIM:615179|UMLS:C3808786|DOID:0070100|ICD10:E70.3|SCTID:722059002 owl:Class HGNC:23405 biolink:NamedThing LRMDA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001123 biolink:NamedThing chronic sphenoidal sinusitis Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. tmpaxzxjjyw_mondo_relaxed.owl sphenoid sinusitis, chronic|sphenoidal sinus-chr.|chronic sphenoid sinusitis DOID:10793|NCIT:C34480|ICD10:J32.3|ICD9:473.3|UMLS:C0008712|SCTID:38961000 owl:Class UBERON:0002104 biolink:NamedThing visual system tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:30501 biolink:NamedThing beryllium atom Alkaline earth metal atom with atomic number 4. tmpaxzxjjyw_mondo_relaxed.owl beryllium|Beryllium|berilio|4Be|Be owl:Class CHEBI:50903 biolink:NamedThing carcinogenic agent A role played by a chemical compound which is known to induce a process of carcinogenesis by corrupting normal cellular pathways, leading to the acquistion of tumoral capabilities. tmpaxzxjjyw_mondo_relaxed.owl carcinogeno|carcinogens|cancerogene|carcinogen|carcinogene|agente carcinogeno|cancerigene|carcinogenic agents owl:Class UBERON:0001650 biolink:NamedThing hypoglossal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012928 biolink:NamedThing hereditary spastic paraplegia 42 Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia 42, autosomal dominant|hereditary spastic paraplegia type 42|SLC33A1 autosomal dominant pure spastic paraplegia|autosomal dominant spastic paraplegia 42|autosomal dominant spastic paraplegia type 42|SPG42|autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1 UMLS:C2675528|DOID:0110794|MESH:C567262|ICD10:G11.4|Orphanet:171863|OMIM:612539|SCTID:763070001 owl:Class UBERON:0007831 biolink:NamedThing pectoral girdle skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0026771 biolink:NamedThing developmental and epileptic encephalopathy, 85, with or without midline brain defects tmpaxzxjjyw_mondo_relaxed.owl EIEE85|DEE85, with or without midline brain defects|epileptic encephalopathy, early infantile, 85, with or without midline brain defects OMIM:301044 owl:Class UBERON:0005664 biolink:NamedThing 2nd arch endoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006476 biolink:NamedThing undifferentiated gallbladder carcinoma A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma. tmpaxzxjjyw_mondo_relaxed.owl anaplastic carcinoma of the gallbladder|anaplastic gallbladder carcinoma|undifferentiated gallbladder cancer|undifferentiated carcinoma of the gallbladder|undifferentiated carcinoma of gallbladder|gall bladder undifferentiated carcinoma|gallbladder undifferentiated carcinoma|undifferentiated gallbladder carcinoma|anaplastic carcinoma of gallbladder NCIT:C9167|EFO:1000604|UMLS:C0279653 owl:Class MONDO:0020164 biolink:NamedThing epicanthal fold tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98573|ICD10:Q10.3 owl:Class HP:0000286 biolink:NamedThing Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. tmpaxzxjjyw_mondo_relaxed.owl Plica palpebronasalis|Epicanthal fold|Prominent eye folds|Eye folds|Epicanthal folds|Epicanthic folds|Palpebronasal fold UMLS:C0678230 In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. HP:0007930|HP:0000624 human_phenotype owl:Class MONDO:0004324 biolink:NamedThing testicular fibroma A benign neoplasm that arises from the testis and is characterized by the presence of fusiform cells and collagenization. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515282|DOID:7675|NCIT:C39951 owl:Class MONDO:0000971 biolink:NamedThing chest wall lipoma A benign adipose tissue neoplasm of the chest wall. tmpaxzxjjyw_mondo_relaxed.owl lipoma of chest wall|chest wall lipoma|lipoma of the chest wall SCTID:448270009|UMLS:C1332932|DOID:10200|ICD9:214.8|NCIT:C6719 owl:Class MONDO:0012479 biolink:NamedThing congenital malabsorptive diarrhea 4 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported. tmpaxzxjjyw_mondo_relaxed.owl congenital diarrhea caused by mutation in NEUROG3|enteric anendocrinosis|NEUROG3 congenital diarrhea|congenital malabsorptive diarrhea due to paucity of enteroendocrine cells|congenital malabsorptive diarrhea type 4|diarrhea 4, malabsorptive, congenital|DIAR4 UMLS:C1835888|ICD10:P78.3|Orphanet:83620|OMIM:610370|SCTID:722392003|MESH:C563673|DOID:0060779 owl:Class HGNC:13806 biolink:NamedThing NEUROG3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21474 biolink:NamedThing INPP5E tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015065 biolink:NamedThing ileal neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the ileum. tmpaxzxjjyw_mondo_relaxed.owl ileal neuroendocrine neoplasm|ileal neuroendocrine tumor NCIT:C135092|UMLS:CN197358|Orphanet:100078 Editor note: TODO apply G1/G2 pattern owl:Class ENVO:00000073 biolink:NamedThing building A permanent walled and roofed construction. tmpaxzxjjyw_mondo_relaxed.owl building|BUILDING owl:Class OBO:CHR_9606-chr9q2 biolink:NamedThing 9q2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 99800000 65000000 hg38 owl:Class HGNC:25443 biolink:NamedThing C19orf12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019973 biolink:NamedThing persistent placoid maculopathy Persistent placoid maculopathy is characterised by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:97341|UMLS:C4304823|SCTID:719297006 owl:Class CL:1001569 biolink:NamedThing hippocampal interneuron An interneuron of the hippocampus. tmpaxzxjjyw_mondo_relaxed.owl FMA:84777 cl owl:Class UBERON:0001954 biolink:NamedThing Ammon's horn tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904227 biolink:NamedThing negative regulation of glycogen synthase activity, transferring glucose-1-phosphate Any process that stops, prevents or reduces the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. tmpaxzxjjyw_mondo_relaxed.owl downregulation of glycogen synthase activity, transferring glucose-1-phosphate|inhibition of glycogen synthase activity, transferring glucose-1-phosphate|down regulation of glycogen synthase activity, transferring glucose-1-phosphate|down-regulation of glycogen synthase activity, transferring glucose-1-phosphate owl:Class GO:0061547 biolink:NamedThing glycogen synthase activity, transferring glucose-1-phosphate Catalysis of the reaction: UDP-glucose + (1,4)-alpha-D-glucosyl(n) = UMP + (1,4)-alpha-D-glucosyl(n)-glucose-1-phosphate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018692 biolink:NamedThing dorsal side of post-anal tail tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002956 biolink:NamedThing granular layer of cerebellar cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0001031 biolink:NamedThing cerebellar granule cell Granule cell that is part of the cerebellum. tmpaxzxjjyw_mondo_relaxed.owl BTO:0004278 cell owl:Class MONDO:0001229 biolink:NamedThing small intestine diverticulitis A diverticulitis that involves the small intestine. tmpaxzxjjyw_mondo_relaxed.owl small intestine diverticulitis|diverticulosis of small intestine with hemorrhage|diverticulitis of small intestine ICD9:562.02|DOID:11223|SCTID:56165008|ICD9:562.01|UMLS:C0156164 owl:Class CL:1000281 biolink:NamedThing smooth muscle cell of cecum A smooth muscle cell that is part of the cecum. tmpaxzxjjyw_mondo_relaxed.owl non-striated muscle fiber of cecum|smooth muscle fiber of cecum FMA:15681 cell owl:Class MONDO:0002408 biolink:NamedThing hereditary hyperbilirubinemia An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome. tmpaxzxjjyw_mondo_relaxed.owl bilirubin metabolic disorder|hereditary hyperbilirubinemia|hyperbilirubinaemia|hyperbilirubinemia NCIT:C84761|DOID:2741|UMLS:C0020435|OMIMPS:237450|MESH:D006933 owl:Class HGNC:10295 biolink:NamedThing RPGR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019599 biolink:NamedThing primary lipodystrophy Primary lipodystrophies represent a heterogeneous group of very rare diseases characterized by a generalized or localized loss of body fat (lipoatrophy). tmpaxzxjjyw_mondo_relaxed.owl ICD10:E88.1|Orphanet:90970 owl:Class MONDO:0024522 biolink:NamedThing amyloidosis, primary localized cutaneous, 1 Any primary cutaneous amyloidosis in which the cause of the disease is a mutation in the OSMR gene. tmpaxzxjjyw_mondo_relaxed.owl amyloidosis 9|amyloidosis, primary localized cutaneous, type 1|lichen amyloidosis, familial|PCA|amyloidosis, familial cutaneous lichen|OSMR primary cutaneous amyloidosis|primary cutaneous amyloidosis caused by mutation in OSMR|PLCA1|amyloidosis, primary localized cutaneous, 1|amyloidosis, primary cutaneous, 1 OMIM:105250|UMLS:C0268398|Orphanet:353220 owl:Class HGNC:8507 biolink:NamedThing OSMR tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002338 biolink:NamedThing CD56-positive, CD161-positive immature natural killer cell, human A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-positive, CD117-positive, CD122-positive,and CD161-positive. tmpaxzxjjyw_mondo_relaxed.owl p-NK Human markers; killer cell immunoglobulin-like receptor 2DL1 is used as a representative example (PRO at this time lacks a KIR superfamily). tmeehan 2010-09-21T10:06:53Z cell owl:Class MONDO:0009803 biolink:NamedThing congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl osteogenesis imperfecta congenita, microcephaly, and cataracts MESH:C537558|OMIM:259410|Orphanet:2772|UMLS:C1850184|ICD10:Q78.0 owl:Class MONDO:0002073 biolink:NamedThing malignant pineal area germ cell neoplasm A malignant germ cell tumor that arises in the pineal region. Representative examples include germinoma, immature teratoma, choriocarcinoma, embryonal carcinoma and yolk sac tumor. tmpaxzxjjyw_mondo_relaxed.owl malignant germ cell tumor of pineal gland|malignant pineal region germ cell neoplasm|malignant pineal parenchymal germ cell tumor|malignant pineal parenchymal germ cell neoplasm|malignant germ cell tumor of the pineal gland|pineal germ cell tumor|malignant pineal gland germ cell neoplasm|malignant pineal region germ cell tumor|pineal region germinoma|malignant pineal area germ cell tumor|malignant germ cell neoplasm of the pineal gland|pineal cell tumor|malignant germ cell neoplasm of pineal gland|malignant pineal gland germ cell tumor|malignant germ cell neoplasm of pineal parenchyma|malignant germ cell tumor of the pineal parenchyma|malignant germ cell neoplasm of the pineal parenchyma|malignant germ cell tumor of pineal parenchyma|pineal germ cell neoplasm, malignant|pineal region germ cell tumor|pineal cell tumour SCTID:277508009|UMLS:C1334612|NCIT:C6767|GARD:0012017|UMLS:C0349621|DOID:1660|ICD9:239.7 owl:Class MONDO:0008538 biolink:NamedThing temporal arteritis Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries. tmpaxzxjjyw_mondo_relaxed.owl Horton disease|giant cell arteritis|Horton’s disease|Horton's giant cell arteritis|GCA|Horton's temporal arteritis|temporal arteritis|Horton's arteritis|Horton’s syndrome|temporal artery inflammation|arteritis temporalis|polymyalgia rheumatica|inflammation of temporal artery|Horton's disease|arteritis cranialis|cranial arteritis NCIT:C35065|SCTID:400130008|ICD10:M31.6|Orphanet:397|GARD:0009615|OMIM:187360|UMLS:C1956391|DOID:13375|MedDRA:10018250|MedDRA:10043207|ICD9:446.5|EFO:1001209 owl:Class UBERON:0001632 biolink:NamedThing temporal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004277 biolink:NamedThing eye muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001281 biolink:NamedThing hepatic sinusoid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000256 biolink:NamedThing systemic mycosis A mycosis that involves the lungs, abdominal viscera, bones and or central nervous system. tmpaxzxjjyw_mondo_relaxed.owl systemic fungal infection UMLS:C0553576|DOID:0050136|SCTID:399314004|ICD9:117.9 owl:Class MONDO:0014123 biolink:NamedThing primary ciliary dyskinesia 21 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DRC1 gene. tmpaxzxjjyw_mondo_relaxed.owl ciliary dyskinesia, primary, type 21|DRC1 primary ciliary dyskinesia|primary ciliary dyskinesia 21 without situs inversus|ciliary dyskinesia, primary, 21|primary ciliary dyskinesia caused by mutation in DRC1|ciliary dyskinesia, primary, 21, without situs inversus|primary ciliary dyskinesia type 21|CILD21 DOID:0110596|UMLS:C3809087|ICD10:Q34.8|OMIM:615294 owl:Class HGNC:24245 biolink:NamedThing DRC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005106 biolink:NamedThing metanephric tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014824 biolink:NamedThing craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl Loucks-Innes syndrome|developmental delay with short stature, dysmorphic features, and sparse hair|developmental delay-short stature-dysmorphic features-sparse hair syndrome|DEDSSH OMIM:616901|Orphanet:459061|UMLS:C4310801 owl:Class HGNC:3003 biolink:NamedThing DPH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001515 biolink:NamedThing thoracic aorta tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6715 biolink:NamedThing LTBP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13281 biolink:NamedThing ESPN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016141 biolink:NamedThing qualitative or quantitative defects of alpha-sarcoglycan tmpaxzxjjyw_mondo_relaxed.owl alpha-sarcoglycanopathy Orphanet:207060 owl:Class HGNC:10805 biolink:NamedThing SGCA tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006871 biolink:NamedThing embryonic footplate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013466 biolink:NamedThing orofacial cleft 13 tmpaxzxjjyw_mondo_relaxed.owl orofacial cleft 13|OFC13 DOID:0080406|UMLS:C3151222|OMIM:613857|Orphanet:1991 owl:Class MONDO:0016455 biolink:NamedThing virus-associated trichodysplasia spinulosa Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients. tmpaxzxjjyw_mondo_relaxed.owl trichodysplasia spinulosa|Cyclosporine-induced folliculodystrophy|pilomatrix dysplasia|TS|VATS UMLS:C3267126|Orphanet:228379 owl:Class MONDO:0015713 biolink:NamedThing idiopathic central precocious puberty tmpaxzxjjyw_mondo_relaxed.owl ICD10:E22.8|Orphanet:169615|ICD9:259.1|NCIT:C120372|SCTID:237817008|UMLS:C0342544 owl:Class NCBITaxon:1654 biolink:NamedThing Actinomyces tmpaxzxjjyw_mondo_relaxed.owl Actinocladothrix|Discomyces GC_ID:11|PMID:30186281 ncbi_taxonomy owl:Class MONDO:0021913 biolink:NamedThing aquagenic pruritus Aquagenic pruritus is a conditionin which contact with water of any temperature causes intense itching, without any visible skin changes. The symptoms may begin immediately after contact and can last for an hour or more. The cause of aquagenic pruritus is unknown; however, familial cases have been described. It may be a symptom of polycythemia vera or another underlying condition. Overall, treatment is a challenge. Antihistamines, UVB phototherapy, PUVA therapy and various medications have been tried with varying degrees of success. tmpaxzxjjyw_mondo_relaxed.owl aquagenic pruritus|water-induced itching GARD:0010278|SCTID:238695001|UMLS:C0406409|ICD9:698.8 https://rarediseases.info.nih.gov/diseases/10278/aquagenic-pruritus owl:Class HP:0000989 biolink:NamedThing Pruritus Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. tmpaxzxjjyw_mondo_relaxed.owl Itching|pruritis|Skin itching|Itchy skin SNOMEDCT_US:424492005|MSH:D011537|SNOMEDCT_US:279333002|SNOMEDCT_US:418363000|SNOMEDCT_US:418290006|UMLS:C0033774 human_phenotype owl:Class UBERON:0000411 biolink:NamedThing visual cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016540 biolink:NamedThing occipital cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013933 biolink:NamedThing peroxisome biogenesis disorder 5B tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder type 5B|PBD5B|peroxisome biogenesis disorder 5B Orphanet:772|OMIM:614867|NCIT:C155757|Orphanet:44|UMLS:C3542026 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100357 biolink:NamedThing non-classic presentation A mild or intermediate form of a genetic disease. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3221 owl:Class CL:0002013 biolink:NamedThing GlyA-positive basophillic erythroblast A basophilic erythroblast that is GlyA-positive. tmpaxzxjjyw_mondo_relaxed.owl Markers are associated with human cells. tmeehan 2010-04-26T10:41:15Z cell owl:Class CL:0002004 biolink:NamedThing CD34-negative, GlyA-negative proerythroblast A proerythoblast that is CD34-negative and GlyA-negative. tmpaxzxjjyw_mondo_relaxed.owl Cell surface markers are associated with human cells. tmeehan 2010-04-26T10:31:50Z cell owl:Class GO:0060047 biolink:NamedThing heart contraction The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. tmpaxzxjjyw_mondo_relaxed.owl hemolymph circulation|cardiac contraction|heart beating owl:Class MONDO:0007190 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl disrupted in B-cell malignancy|Clls2|B-cell malignancy, low-grade|leukemia, chronic lymphocytic, susceptibility to, 2|leukemia, chronic lymphocytic, susceptibility to, type 2|leukemia, chronic lymphocytic, B-cell Orphanet:67038|OMIM:109543 owl:Class CL:0000811 biolink:NamedThing CD8-positive, alpha-beta thymocyte An immature alpha-beta T cell that is located in the thymus and is CD8-positive and CD4-negative. tmpaxzxjjyw_mondo_relaxed.owl SP CD8 cell|CD8-positive, alpha-beta immature T cell|CD8-positive, alpha-beta immature T-cell|CD8-positive, alpha-beta immature T lymphocyte|CD8-positive, alpha-beta immature T-lymphocyte cell owl:Class UBERON:0000113 biolink:NamedThing post-juvenile adult stage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014230 biolink:NamedThing candidiasis, familial, 8 Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the TRAF3IP2 gene. tmpaxzxjjyw_mondo_relaxed.owl candidiasis, familial, type 8|TRAF3IP2 chronic mucocutaneous candidiasis (disease)|chronic mucocutaneous candidiasis (disease) caused by mutation in TRAF3IP2|CANDF8|candidiasis, familial chronic mucocutaneous, autosomal recessive|candidiasis, familial, 8 OMIM:615527|UMLS:C3714992 owl:Class HGNC:1343 biolink:NamedThing TRAF3IP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016002 biolink:NamedThing Ehlers-Danlos syndrome, kyphoscoliotic type 1 A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility. tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, ocular-scoliotic type|Ehlers-Danlos syndrome, type Via|EDS 6 (formerly)|Ehlers-Danlos syndrome, kyphoscoliotic type 1|Ehlers-Danlos syndrome, kyphoscoliosis type|Ehlers-Danlos syndrome, kyphoscoliotic type|EDSKSCL1|Ehlers-Danlos syndrome, type VIA, formerly|Ehlers-Danlos syndrome, kyphoscoliotic type, 1|Ehlers-Danlos syndrome type 6A (formerly)|Ehlers-Danlos syndrome kyphoscoliotic type|Ehlers-Danlos syndrome type 6A|Ehlers-Danlos syndrome, type VI|EDS, kyphoscoliotic type|Ehlers-Danlos syndrome, oculoscoliotic type|nevo syndrome|EDS 6|Ehlers-Danlos syndrome oculoscoliotic type|EDS6A, formerly|Ehlers-Danlos syndrome type 6 (formerly)|kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency|Ehlers-Danlos syndrome, type 6 A|kEDS|EDS, oculoscoliotic type|kyphoscoliotic EDS|Ehlers-Danlos syndrome, type VIA|EDS6|Ehlers-Danlos syndrome, type Via, formerly|EDS VI|kyphoscoliotic Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type 6|EDS VIA UMLS:C0268342|UMLS:CN202461|MESH:C536198|ICD10:Q79.6|Orphanet:1900|GARD:0002083|NCIT:C125700|SCTID:718211004|OMIM:225400 https://github.com/monarch-initiative/mondo/issues/4220 owl:Class UBERON:0003726 biolink:NamedThing thoracic nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011861 biolink:NamedThing aorta collagen fibril tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004664 biolink:NamedThing aorta tunica adventitia tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002806 biolink:NamedThing left occipital lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002921 biolink:NamedThing longitudinal fissure tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030279 biolink:NamedThing negative regulation of ossification Any process that stops, prevents, or reduces the frequency, rate or extent of ossification, the formation of bone or of a bony substance or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpaxzxjjyw_mondo_relaxed.owl downregulation of ossification|negative regulation of bone formation|down-regulation of ossification|negative regulation of bone biosynthesis|inhibition of ossification|down regulation of ossification owl:Class MONDO:0004509 biolink:NamedThing intrahepatic biliary papillomatosis A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic bile ducts. tmpaxzxjjyw_mondo_relaxed.owl intrahepatic bile duct papillomatosis|intrahepatic biliary papillomatosis|intrahepatic bile duct papillary neoplasm DOID:8230|UMLS:C1334258|NCIT:C7125 owl:Class UBERON:0002509 biolink:NamedThing mesenteric lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004645 biolink:NamedThing urinary bladder urothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010730 biolink:NamedThing combined immunodeficiency, X-linked tmpaxzxjjyw_mondo_relaxed.owl CIDX|immunodeficiency 6|Xcid|combined immunodeficiency, X-linked OMIM:312863 owl:Class HGNC:6010 biolink:NamedThing IL2RG tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8066 biolink:NamedThing NUP62 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000325 biolink:NamedThing jejunal goblet cell A goblet cell that is part of the epithelium proper of jejunum. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of epithelium proper of jejunum FMA:263065 cell owl:Class Nb78fc57345e548a5a488f40a95e038c2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0002401 biolink:NamedThing visceral pleura tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044347 biolink:NamedThing erythrocyte disorder A disease or disorder that involves the erythrocyte. tmpaxzxjjyw_mondo_relaxed.owl disease of erythrocyte|disease or disorder of erythrocyte|red blood cell disorder|erythrocyte disease|erythrocyte disease or disorder|red blood cell disease|disorder of erythrocyte UMLS:C0221016|ICD9:289.9|SCTID:38292009 owl:Class MONDO:0012268 biolink:NamedThing AIDS A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin lymphoma and Kaposi sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. tmpaxzxjjyw_mondo_relaxed.owl acquired immunodeficiency syndrome, AIDS|acquired immune deficiency|acquired immune deficiency syndrome|AIDS, acquired immunodeficiency syndrome|acquired immunodeficiency syndrome|AIDS|acquired immunodeficiency disease ICD10:B20|DOID:635|SCTID:62479008|MESH:D000163|NCIT:C2851|EFO:0000765 owl:Class NCBITaxon:12721 biolink:NamedThing Human immunodeficiency virus tmpaxzxjjyw_mondo_relaxed.owl HIV|AIDS virus GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004952 biolink:NamedThing submucosa of bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012083 biolink:NamedThing lumen of primary bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002182 biolink:NamedThing main bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001000 biolink:NamedThing vas deferens tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6391 biolink:NamedThing KIF22 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011272 biolink:NamedThing embryonic skin basal layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007158 biolink:NamedThing arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal. tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome|Arthogryposis with oculomotor limitation and electroretinal abnormalities|arthrogryposis ophthalmoplegia retinopathy|distal arthrogryposis type IIB|distal arthrogryposis with ophthalmoplegia|oculomelic amyoplasia|arthrogryposis with oculomotor limitation and electroretinal abnormalities|arthrogryposis, distal, type 5|arthrogryposis, distal, type 2B|distal arthrogryposis type 5|DA5|arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome UMLS:C1834523|GARD:0004047|SCTID:715217004|UMLS:C1862472|Orphanet:1154|OMIM:108145|ICD10:Q68.8 https://rarediseases.info.nih.gov/diseases/4047/distal-arthrogryposis-type-5 owl:Class HGNC:26270 biolink:NamedThing PIEZO2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060556 biolink:NamedThing joint laxity, short stature, and myopia tmpaxzxjjyw_mondo_relaxed.owl joint laxity, short stature, and myopia|JLSM Orphanet:527450|UMLS:C4540020|OMIM:617662 owl:Class HGNC:15808 biolink:NamedThing GZF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1001597 biolink:NamedThing seminal vesicle glandular cell Glandular cell of seminal vesicle epithelium. tmpaxzxjjyw_mondo_relaxed.owl seminal vesicle glandular cells CALOHA:TS-1283 owl:Class MONDO:0012763 biolink:NamedThing epilepsy, childhood absence, susceptibility to, 6 An inherited susceptibility or predisposition to developing child absence epilepsy or idiopathic generalized epilepsy, in which the cause of the disease is a mutation in the CACNA1H gene. tmpaxzxjjyw_mondo_relaxed.owl CACNA1H childhood absence epilepsy|susceptibility to childhood absence epilepsy 6|epilepsy, childhood absence, susceptibility to, type 6|epilepsy, childhood absence, susceptibility to, 6|epilepsy, idiopathic generalized, susceptibility to, 6|childhood absence epilepsy caused by mutation in CACNA1H|ECA6 OMIM:611942|Orphanet:64280 owl:Class UBERON:0003060 biolink:NamedThing pronephric duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019000 biolink:NamedThing perineural cyst Perineural (or Tarlov) cysts are cerebrospinal fluid-filled nerve root cysts most commonly found at the sacral level of the spine, although they can be found in any section of the spine, which can cause progressively painful radiculopathy. tmpaxzxjjyw_mondo_relaxed.owl sacral perineural cysts|Tarlov cyst|sacral Tarlov cysts|perineural cysts|Tarlov cysts|sacral neural cysts ICD10:G54.8|SCTID:81634008|EFO:1001858|GARD:0009258|Orphanet:65250|MESH:D052958 owl:Class MONDO:0013795 biolink:NamedThing fibrochondrogenesis 2 Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene. tmpaxzxjjyw_mondo_relaxed.owl fibrochondrogenesis type 2|fibrochondrogenesis caused by mutation in COL11A2|FBCG2|COL11A2 fibrochondrogenesis|fibrochondrogenesis 2 OMIM:614524|UMLS:C3281128|Orphanet:2021 owl:Class GO:0006206 biolink:NamedThing pyrimidine nucleobase metabolic process The chemical reactions and pathways involving pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases. tmpaxzxjjyw_mondo_relaxed.owl pyrimidine metabolic process|pyrimidine base metabolic process|pyrimidine metabolism|pyrimidine base metabolism owl:Class UBERON:8410050 biolink:NamedThing anorectum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008860 biolink:NamedThing beta-aminoisobutyric acid, urinary excretion of tmpaxzxjjyw_mondo_relaxed.owl Baib urinary excretion|BETA-aminoisobutyric aciduria|hyper-Beta-aminoisobutyric aciduria|Beta-aminoisobutyric aciduria|BAIBA|beta-aminoisobutyric acid, urinary excretion of UMLS:C1859518|MESH:C565904|OMIM:210100 owl:Class HGNC:14412 biolink:NamedThing AGXT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011537 biolink:NamedThing macrocephaly-autism syndrome An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23. tmpaxzxjjyw_mondo_relaxed.owl macrocephaly/autism syndrome|macrocephaly-intellectual disability-autism syndrome DOID:0060867|OMIM:605309|UMLS:C1854416|Orphanet:210548|MESH:C565342 owl:Class UBERON:0010708 biolink:NamedThing pectoral complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000010 biolink:NamedThing dermis blood vessel endothelial cell Any blood vessel endothelial cell that is part of a dermis. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-04T15:12:06Z cell owl:Class UBERON:0008886 biolink:NamedThing pulmonary vascular system tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000229 biolink:NamedThing cytoplasmic chromosome A chromosome found in the cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl cytoplasmic interphase chromosome owl:Class MONDO:0011355 biolink:NamedThing cone-rod dystrophy 7 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene. tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy caused by mutation in RIMS1|RIMS1 cone-rod dystrophy|cone-rod dystrophy type 7|cone-rod dystrophy 7|CORD7 MESH:C566350|OMIM:603649|UMLS:C1863634|DOID:0111012|Orphanet:1872 owl:Class HGNC:17282 biolink:NamedThing RIMS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003746 biolink:NamedThing ciliary body spindle cell melanoma A spindle cell melanoma that involves the ciliary body. tmpaxzxjjyw_mondo_relaxed.owl spindle cell melanoma of the ciliary body|ciliary body spindle cell melanoma|spindle cell melanoma of ciliary body DOID:6043|NCIT:C6117|UMLS:C1333052 owl:Class HGNC:11772 biolink:NamedThing TGFBR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006135 biolink:NamedThing myelinated nerve fiber tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043209 biolink:NamedThing myelin sheath An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl astrocyte sheath|Schwann cell myelin sheath|oligodendrocyte myelin sheath owl:Class MONDO:0014747 biolink:NamedThing familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome tmpaxzxjjyw_mondo_relaxed.owl RDICC|retinal dystrophy and iris coloboma with or without congenital cataract OMIM:616722|Orphanet:488197|UMLS:C4225233 owl:Class HGNC:31582 biolink:NamedThing MIR204 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014664 biolink:NamedThing Joubert syndrome 23 Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0586 gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome type 23|Joubert syndrome 23|JBTS23|KIAA0586 Joubert syndrome|Joubert syndrome caused by mutation in KIAA0586 UMLS:C4084822|DOID:0110992|OMIM:616490|Orphanet:475 owl:Class HGNC:19960 biolink:NamedThing KIAA0586 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005461 biolink:NamedThing levator scapulae muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001908 biolink:NamedThing multinucleate A nucleate quality inhering in a bearer by virtue of the bearer's having more than one nucleus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050866 biolink:NamedThing negative regulation of cell activation Any process that stops, prevents, or reduces the frequency, rate or extent of cell activation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of cell activation|down regulation of cell activation|down-regulation of cell activation|inhibition of cell activation owl:Class GO:0001775 biolink:NamedThing cell activation A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003196 biolink:NamedThing appendix carcinoma A carcinoma that arises from epithelial cells of the vermiform appendix tmpaxzxjjyw_mondo_relaxed.owl vermiform appendix carcinoma|carcinoma of the appendix|appendix cancer|Ca appendix|carcinoma of vermiform appendix|appendix carcinoma|carcinoma of appendix NCIT:C9330|UMLS:C0728951|SCTID:448992002|DOID:4902 owl:Class MONDO:0018617 biolink:NamedThing baroreflex failure Baroreflex failure is a rare disorder that causes fluctuations in blood pressure with episodes of severe hypertension (high blood pressure) and elevated heart rate in response to stress, exercise, and pain. Individuals may also have hypotension (low blood pressure) with normal or reduced heart rate during periods of rest. Symptoms of baroreflex failure may include headache, sweating, and a heart rate that does not respond to medications. The onset of baroreflex failure may be very abrupt or more gradual. In many cases, the cause of baroreflex failure is not known. However, baroreflex failure can result from surgery or radiation treatment for cancers of the neck, injury to the nerves involved in sensing blood pressure, or a degenerative neurologic disease. Treatment usually involves medications to control blood pressure and heart rate along with stress reduction techniques. tmpaxzxjjyw_mondo_relaxed.owl GARD:0010664|ICD10:G90.4|Orphanet:443084|UMLS:CN237655 https://rarediseases.info.nih.gov/diseases/10664/baroreflex-failure owl:Class MONDO:0009005 biolink:NamedThing complement component C1r/C1s deficiency Lack of production of either functional C1r or C1s protein, due to a genetic defect. Approximately 60% of patients with a C1r/C1s deficiency will develop a severe systemic lupus erythematosus at an early age. Patients also present with frequent sinopulmonary infections often with Streptococcus pneumoniae. tmpaxzxjjyw_mondo_relaxed.owl C1r/C1s deficiency|complement component C1r/C1s deficiency NCIT:C119991|OMIM:216950|UMLS:C3150274|Orphanet:169147 owl:Class HGNC:1246 biolink:NamedThing C1R tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013286 biolink:NamedThing immunodeficiency, common variable, 6 Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency, common variable, 6|antibody deficiency due to CD81 defect|immunodeficiency, common variable, type 6|common variable immunodeficiency caused by mutation in CD81|CVID6|CD81 common variable immunodeficiency UMLS:C3150741|OMIM:613496|Orphanet:1572 owl:Class HGNC:1701 biolink:NamedThing CD81 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010758 biolink:NamedThing subdivision of organism along appendicular axis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000026 biolink:NamedThing appendage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009277 biolink:NamedThing glaucoma 3A An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1. tmpaxzxjjyw_mondo_relaxed.owl glaucoma 3, primary congenital, type a|glaucoma, congenital|simple buphthalmos|glaucoma 3, primary congenital, A|Primary Congenital glaucoma 3A|buphthalmos|glaucoma, primary open angle, adult-onset|GLC3A|glaucoma, primary open angle, juvenile-onset Orphanet:98976|OMIM:231300|DOID:11211|NCIT:C148260|ICD9:743.21|Orphanet:98977 Editor note: check DO placement owl:Class ECTO:6000016 biolink:NamedThing exposure to personal behavior An exposure event involving Personal Behavior tmpaxzxjjyw_mondo_relaxed.owl Personal Behavior exposure owl:Class NCIT:C19683 biolink:NamedThing Personal Behavior The observable response of a person. tmpaxzxjjyw_mondo_relaxed.owl Personal Behavior|Personal Conduct owl:Class UBERON:0004124 biolink:NamedThing myocardium trabecular layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0036194 biolink:NamedThing muscle cell projection A prolongation or process extending from a muscle cell. A muscle cell is a mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. tmpaxzxjjyw_mondo_relaxed.owl muscle arm|myopodia|myocyte projection owl:Class MONDO:0018509 biolink:NamedThing squamous cell carcinoma of the small intestine A carcinoma that arises from the small intestine. It is composed of malignant squamous cells. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of the small bowel|small intestinal squamous cell carcinoma|small intestine squamous cell carcinoma|small intestinal squamous cell cancer ICD10:C17.3|ICD10:C17.8|Orphanet:423968|ICD10:C17.1|UMLS:C1710111|ICD10:C17.0|ICD10:C17.2|UMLS:CN237514|NCIT:C43534 owl:Class UBERON:0005381 biolink:NamedThing dentate gyrus granule cell layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr17q21 biolink:NamedThing 17q21 (Human) tmpaxzxjjyw_mondo_relaxed.owl 52100000 39800000 hg38 owl:Class UBERON:0002217 biolink:NamedThing synovial joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0045023 biolink:NamedThing acquired adrenogenital syndrome An instance of adrenogenital syndrome that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired adrenogenital syndrome SCTID:190512008|UMLS:C0237971 owl:Class HGNC:18712 biolink:NamedThing LGI4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013395 biolink:NamedThing retinitis pigmentosa 4 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RHO gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 4|retinitis pigmentosa caused by mutation in RHO|retinitis pigmentosa type 4|RP4|RHO retinitis pigmentosa|retinitis pigmentosa, rhodopsin-related|RP 4 ICD10:H35.5|UMLS:C3151001|OMIM:613731|HGNC:10012|DOID:0110372|GARD:0010405|MESH:C566706 https://rarediseases.info.nih.gov/diseases/10405/retinitis-pigmentosa-4 owl:Class HGNC:10012 biolink:NamedThing RHO tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014541 biolink:NamedThing thoracic division of spinal cord central canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006508 biolink:NamedThing proteolysis The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. tmpaxzxjjyw_mondo_relaxed.owl peptidolysis|ATP-dependent proteolysis owl:Class MONDO:0013387 biolink:NamedThing developmental and epileptic encephalopathy, 7 KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl EIEE7|KCNQ2-related neonatal epileptic encephalopathy|KCNQ2-NEE|KCNQ2-related epileptic encephalopathy|epileptic encephalopathy, early infantile, type 7|epileptic encephalopathy, early infantile, 7|DEE7|KCNQ2-related disorders ICD10:G40.4|DOID:0080462|Orphanet:439218|GARD:0013060|UMLS:C3150986|OMIM:613720 owl:Class HGNC:6296 biolink:NamedThing KCNQ2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr14q12 biolink:NamedThing 14q12 (Human) tmpaxzxjjyw_mondo_relaxed.owl 32900000 24100000 hg38 owl:Class UBERON:0001850 biolink:NamedThing lacrimal drainage system tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:78433 biolink:NamedThing refrigerant A substance used in a thermodynamic heat pump cycle or refrigeration cycle that undergoes a phase change from a gas to a liquid and back. Refrigerants are used in air-conditioning systems and freezers or refrigerators and are assigned a "R" number (by ASHRAE - formerly the American Society of Heating, Refrigerating and Air Conditioning Engineers), which is determined systematically according to their molecular structure. tmpaxzxjjyw_mondo_relaxed.owl refrigerants owl:Class MONDO:0015657 biolink:NamedThing inflammatory and autoimmune disease with epilepsy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:166484|UMLS:CN200066 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inflammatory disease' and 'autoimmune disease'. MONDO:0007179|MONDO_0021166 owl:Class N0cf212f806fa41a5b1ba676c01119db0 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl CL:1001428 biolink:NamedThing bladder urothelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001121 cell owl:Class MONDO:0014119 biolink:NamedThing intellectual disability-strabismus syndrome tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive type 36|MRT36|intellectual disability, autosomal recessive type 36|intellectual disability, autosomal recessive 36|mental retardation, autosomal recessive 36 UMLS:C3809039|OMIM:615286|ICD10:H50.8|Orphanet:363528 owl:Class CL:0000746 biolink:NamedThing cardiac muscle cell Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. In mammals, the contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei. tmpaxzxjjyw_mondo_relaxed.owl cardiac myocyte|heart muscle cell|cardiocyte|cardiac muscle fiber|cardiomyocyte BTO:0001539|CALOHA:TS-0115|FMA:14067 This class encompasses the muscle cells responsible for heart* contraction in both vertebrates and arthropods. The ultrastucture of a wide range of arthropod heart cells has been examined including spiders, horseshoe crabs, crustaceans (see Sherman, 1973 and refs therein) and insects (see Lehmacher et al (2012) and refs therein). According to these refs, the cells participating in heart contraction in all cases are transversely striated. Insects hearts additionally contain ostial cells, also transversely striated muscle cells, but which do not participate in heart contraction. FMA:83808 cell owl:Class HGNC:2865 biolink:NamedThing DHH tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016854 biolink:NamedThing dorsal part of optic cup tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010827 biolink:NamedThing retinitis pigmentosa 14 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TULP1 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 14|retinitis pigmentosa type 14|TULP1 retinitis pigmentosa|RP 14|retinitis pigmentosa caused by mutation in TULP1|RP14 GARD:0010385|UMLS:C1838603|DOID:0110381|ICD10:H35.5|OMIM:600132 https://rarediseases.info.nih.gov/diseases/10385/retinitis-pigmentosa-14 owl:Class HGNC:12423 biolink:NamedThing TULP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011648 biolink:NamedThing jaw muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005688 biolink:NamedThing lens vesicle cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005426 biolink:NamedThing lens vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045190 biolink:NamedThing isotype switching The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. tmpaxzxjjyw_mondo_relaxed.owl isotype switch recombination|class switching|class switch recombination owl:Class MONDO:0009337 biolink:NamedThing Hennekam lymphangiectasia-lymphedema syndrome 1 Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene. tmpaxzxjjyw_mondo_relaxed.owl HKLLS1|Hennekam syndrome caused by mutation in CCBE1|lymphatic dysplasia, generalized|Hennekam lymphangiectasia-lymphedema syndrome 1|CCBE1 Hennekam syndrome|Hennekam lymphangiectasia-lymphedema syndrome type 1|Hennekam lymphangiectasia-lymphedema syndrome Orphanet:2136|UMLS:C4012050|OMIM:235510|UMLS:C0340834 owl:Class HGNC:29426 biolink:NamedThing CCBE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q3 biolink:NamedThing 2q3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 242193529 168900000 hg38 owl:Class GO:0019953 biolink:NamedThing sexual reproduction A reproduction process that creates a new organism by combining the genetic material of two gametes, which may come from two organisms or from a single organism, in the case of self-fertilizing hermaphrodites, e.g. C. elegans, or self-fertilization in plants. It occurs both in eukaryotes and prokaryotes: in multicellular eukaryotic organisms, an individual is created anew; in prokaryotes, the initial cell has additional or transformed genetic material. In a process called genetic recombination, genetic material (DNA) originating from two gametes join up so that homologous sequences are aligned with each other, and this is followed by exchange of genetic information. After the new recombinant chromosome is formed, it is passed on to progeny. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1 biolink:NamedThing root tmpaxzxjjyw_mondo_relaxed.owl all GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010359 biolink:NamedThing Dent disease type 2 Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 associated with extra-renal features. tmpaxzxjjyw_mondo_relaxed.owl nephrolithiasis type 2|DENT disease 2|OCRL Dent disease|Dent disease type 2|Dent disease caused by mutation in OCRL ICD10:N25.8|Orphanet:1652|SCTID:717790004|Orphanet:93623|OMIM:300555|UMLS:C1845167|UMLS:C4305529|MESH:C564487 owl:Class HGNC:8108 biolink:NamedThing OCRL tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002451 biolink:NamedThing endometrial gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012276 biolink:NamedThing endometrium glandular epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019263 biolink:NamedThing gray matter of hindbrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014451 biolink:NamedThing tongue taste bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014243 biolink:NamedThing Schaaf-Yang syndrome tmpaxzxjjyw_mondo_relaxed.owl Prader-Willi syndrome due to point mutation|distal arthrogryposis with hypopituitarism, intellectual disability and facial anomalies|Chitayat-Hall syndrome|SHFYNG|Schaaf-Yang syndrome|arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies|PWS due to a point mutation|MAGEL2-related Prader-Willi-like syndrome|MAGEL2-related PWLS|arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies|Prader-Willi-like syndrome OMIM:615547|UMLS:C3809877|MESH:C535385|GARD:0013316|ICD10:Q87.1|Orphanet:739|Orphanet:398069|UMLS:C1859724|OMIM:208080|GARD:0010087 https://github.com/monarch-initiative/mondo/issues/3338 owl:Class MONDO:0011631 biolink:NamedThing hemochromatosis type 4 Hemochromatosis type 4 (also called ferroportin disease) is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin. tmpaxzxjjyw_mondo_relaxed.owl hemochromatosis due to defect in ferroportin|hemochromatosis, autosomal dominant|ferroportin disease|hereditary hemochromatosis caused by mutation in SLC40A1|SLC40A1 hereditary hemochromatosis|hemochromatosis, type 4|HFE4|autosomal dominant hereditary hemochromatosis ICD10:E83.1|UMLS:C1853733|GARD:0010094|Orphanet:139491|SCTID:719975002|MESH:C537249|OMIM:606069|DOID:0111028 https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4 owl:Class MONDO:0010879 biolink:NamedThing CODAS syndrome Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies. tmpaxzxjjyw_mondo_relaxed.owl cerebrooculodentoauriculoskeletal syndrome|CODAS syndrome|cerebro-oculo-dento-auriculo-skeletal syndrome|cerebral, ocular, dental, auricular, and skeletal syndrome|cerebral, ocular, dental, auricular, and skeletal anomalies syndrome Orphanet:1458|UMLS:C1838180|OMIM:600373|ICD10:Q87.8|MESH:C536434|SCTID:717772000|NCIT:C126744|GARD:0001418|DOID:0111274 https://rarediseases.info.nih.gov/diseases/1418/codas-syndrome owl:Class HGNC:9479 biolink:NamedThing LONP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005292 biolink:NamedThing colitis Inflammation of the colon. tmpaxzxjjyw_mondo_relaxed.owl colitis|colon inflammation|inflammation of colon|colitis (disease) colitis (disease) MESH:D003092|ICD10:K52.9|DOID:0060180|EFO:0003872|SCTID:64226004|OMIM:191390|UMLS:C0009319|NCIT:C26723|ICD9:558.9|HP:0002583 owl:Class GO:0001843 biolink:NamedThing neural tube closure The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003828 biolink:NamedThing growth hormone-producing pituitary gland carcinoma A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces growth hormone. It may be associated with acromegaly. tmpaxzxjjyw_mondo_relaxed.owl malignant Growth hormone secreting neoplasm of pituitary|malignant Growth hormone secreting neoplasm of the pituitary gland|malignant Growth hormone producing pituitary gland tumor|malignant pituitary somatotropinoma|malignant Growth hormone producing neoplasm of pituitary|Growth hormone-producing pituitary gland carcinoma|malignant Growth hormone secreting tumor of pituitary gland|malignant Somatotrophinoma of the pituitary gland|malignant Growth hormone producing neoplasm of the pituitary gland|malignant Growth hormone producing tumor of the pituitary gland|malignant Growth hormone producing pituitary neoplasm|malignant Growth hormone secreting pituitary tumor|malignant somatotropinoma|Growth hormone producing pituitary gland carcinoma|malignant pituitary gland somatotropinoma|malignant Growth hormone producing pituitary tumor|malignant Growth hormone producing neoplasm of the pituitary|malignant somatotropinoma of pituitary gland|malignant Growth hormone producing tumor of pituitary|malignant Growth hormone producing tumor|malignant pituitary gland Somatotrophinoma|malignant Growth hormone secreting neoplasm of the pituitary|malignant Growth hormone secreting tumor of the pituitary|malignant Growth hormone secreting tumor of pituitary|malignant Growth hormone producing tumor of the pituitary|malignant Growth hormone secreting pituitary neoplasm|malignant somatotropinoma of pituitary|malignant Growth hormone secreting pituitary gland neoplasm|malignant Somatotrophinoma of pituitary gland|malignant Growth hormone producing pituitary gland neoplasm|malignant somatotropinoma of the pituitary|malignant Growth hormone secreting pituitary gland tumor|malignant Growth hormone secreting neoplasm of pituitary gland|malignant pituitary Somatotrophinoma|malignant somatotropinoma of the pituitary gland|malignant Somatotrophinoma of pituitary|malignant Growth hormone producing neoplasm of pituitary gland|malignant Growth hormone secreting tumor of the pituitary gland|malignant Growth hormone producing tumor of pituitary gland DOID:6256|NCIT:C5963|UMLS:C1334587 owl:Class UBERON:0002033 biolink:NamedThing arrector muscle of hair tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903048 biolink:NamedThing regulation of acetylcholine-gated cation channel activity Any process that modulates the frequency, rate or extent of acetylcholine-gated cation channel activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0022848 biolink:NamedThing acetylcholine-gated cation-selective channel activity Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine. tmpaxzxjjyw_mondo_relaxed.owl ionotropic acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity|acetylcholine-gated cation channel activity|nicotinergic acetylcholine receptor activity|nAChR|acetylcholine-activated cation-selective channel activity owl:Class MONDO:0012231 biolink:NamedThing Charcot-Marie-Tooth disease type 2A2 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported. tmpaxzxjjyw_mondo_relaxed.owl hereditary motor and sensory neuropathy IIA2|HMSN IIa2|Charcot-Marie-Tooth disease type 2A2A|CMT2A2A|autosomal dominant Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth neuropathy, type 2A2|Charcot-Marie-Tooth disease, axonal, type 2A2|Charcot-Marie-Tooth neuronal type 2A2|HMSN2A2|Charcot-Marie-Tooth neuropathy type 2A2|CMT2A2|HMSN IIA2|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2|hereditary motor and sensory neuropathy IIa2|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A|autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2|Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2|Charcot-Marie-Tooth disease, neuronal, type 2A2|MFN2 Charcot-Marie-Tooth disease type 2 Orphanet:99947|MESH:C563757|ICD10:G60.0|UMLS:C1836485|SCTID:764850002|DOID:0110155|OMIM:609260|NCIT:C150646 owl:Class MONDO:0013093 biolink:NamedThing glioma susceptibility 3 Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene. tmpaxzxjjyw_mondo_relaxed.owl glioma susceptibility type 3|BRCA2 malignant glioma|malignant glioma caused by mutation in BRCA2|GLM3|glioma susceptibility 3 OMIM:613029|Orphanet:360|Orphanet:182067 owl:Class HGNC:1101 biolink:NamedThing BRCA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7976 biolink:NamedThing NR2F2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005855 biolink:NamedThing lumbar spinal cord ventral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1902669 biolink:NamedThing positive regulation of axon guidance Any process that activates or increases the frequency, rate or extent of axon guidance. tmpaxzxjjyw_mondo_relaxed.owl upregulation of axon growth cone guidance|activation of axon pathfinding|up-regulation of axon chemotaxis|upregulation of axon pathfinding|up-regulation of axon pathfinding|up regulation of axon guidance|activation of axon growth cone guidance|positive regulation of axon pathfinding|up regulation of axon chemotaxis|up regulation of axon pathfinding|positive regulation of axon growth cone guidance|activation of axon guidance|up-regulation of axon guidance|upregulation of axon guidance|activation of axon chemotaxis|up regulation of axon growth cone guidance|positive regulation of axon chemotaxis|up-regulation of axon growth cone guidance|upregulation of axon chemotaxis owl:Class MONDO:0018848 biolink:NamedThing IgG4-related retroperitoneal fibrosis Retroperitoneal fibrosis (RPF) is characterized by the development of a fibrotic mass surrounding retroperitoneal structures, such as aorta, vena cava, ureters and psoas muscle. tmpaxzxjjyw_mondo_relaxed.owl Ormond's disease|retroperitoneal fibrosis|idiopathic retroperitoneal fibrosis|Ormond disease ICD9:593.4|MESH:D012185|GARD:0009568|MedDRA:10038979|ICD10:N13.5|Orphanet:49041|SCTID:197808006|NCIT:C26876|OMIM:228800 Editor note: TODO consider splitting out RF as separate term owl:Class HP:0030852 biolink:NamedThing High pulse pressure Increased amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0855323 human_phenotype owl:Class MONDO:0017876 biolink:NamedThing Venezuelan hemorrhagic fever Venezuelan hemorrhagic fever (VHF), caused by the Guanarito virus, is a viral hemorrhagic disease characterized by fever, headache, arthralgia, sore throat, convulsions, and hemorrhagic manifestations. tmpaxzxjjyw_mondo_relaxed.owl Guanarito hemorrhagic fever UMLS:C0042470|Orphanet:319234|ICD10:A96.8|DOID:0050196|SCTID:359673001 owl:Class NCBITaxon:134742 biolink:NamedThing Sigmodon alstoni tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0036376 biolink:NamedThing wall of left ureter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001223 biolink:NamedThing left ureter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000211 biolink:NamedThing ligament tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003023 biolink:NamedThing aorta angiosarcoma A malignant vascular neoplasm arising from the aorta. tmpaxzxjjyw_mondo_relaxed.owl angiosarcoma (disease) of aorta|angiosarcoma of the aorta|hemangiosarcoma of aorta|hemangiosarcoma of the aorta|aortic hemangiosarcoma|angiosarcoma of aorta|aortic angiosarcoma|aorta angiosarcoma (disease) NCIT:C5376|UMLS:C1332312|DOID:4510 owl:Class UBERON:0007241 biolink:NamedThing tunica adventitia of vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014513 biolink:NamedThing nemaline myopathy 10 Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene. tmpaxzxjjyw_mondo_relaxed.owl NEM10|LMOD3 nemaline myopathy|nemaline myopathy caused by mutation in LMOD3|nemaline myopathy 10|nemaline myopathy type 10 OMIM:616165|DOID:0110931|UMLS:C4015360|Orphanet:607 owl:Class UBERON:0003724 biolink:NamedThing musculocutaneous nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001814 biolink:NamedThing brachial nerve plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009252 biolink:NamedThing essential fructosuria Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated. tmpaxzxjjyw_mondo_relaxed.owl ketohexokinase deficiency|fructosuria, essential|fructokinase deficiency|hepatic fructokinase deficiency OMIM:229800|MESH:C538068|ICD10:E74.11|UMLS:C0268160|ICD10:E74.1|SCTID:40278002|MedDRA:10015487|DOID:0111680|Orphanet:2056 owl:Class HGNC:6315 biolink:NamedThing KHK tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:20444 biolink:NamedThing MBD5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018756 biolink:NamedThing euthyroid Graves orbitopathy tmpaxzxjjyw_mondo_relaxed.owl euthyroid Graves ophthalmopathy Orphanet:466682|ICD10:H05.2 Editor note: complication of graves, no thyroid todo see https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898069/ and MESH:D049970 owl:Class UBERON:0003483 biolink:NamedThing thymus lymphoid tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002051 biolink:NamedThing epithelium of bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005039 biolink:NamedThing mucosa of bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008290 biolink:NamedThing porokeratosis 1, Mibelli type tmpaxzxjjyw_mondo_relaxed.owl porokeratosis 1, MIBELLI type|porokeratosis 1, multiple types|porokeratosis of Mibelli|POROK1 OMIM:175800|UMLS:C0949506|Orphanet:735 owl:Class HGNC:9141 biolink:NamedThing PMVK tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001507 biolink:NamedThing biceps brachii tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006913 biolink:NamedThing pneumococcal meningitis An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with otitis media; mastoiditis; sinusitis; respiratory tract infections; sickle cell disease (anemia, sickle cell); skull fractures; and other disorders. Clinical manifestations include fever; headache; neck stiffness; and somnolence followed by seizures; focal neurologic deficits (notably deafness); and coma. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111) tmpaxzxjjyw_mondo_relaxed.owl Streptococcus pneumoniae infectious meningitis|Streptococcus pneumoniae caused infectious meningitis ICD10:G00.1|MedDRA:10035645|MESH:D008586|EFO:1001114|SCTID:51169003|MedDRA:10027253|ICD9:320.1|UMLS:C0025295|Orphanet:55655 owl:Class HGNC:2770 biolink:NamedThing DES tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012979 biolink:NamedThing primary ciliary dyskinesia 12 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH9 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in RSPH9|CILD12|RSPH9 primary ciliary dyskinesia|primary ciliary dyskinesia type 12|ciliary dyskinesia, primary, 12, without situs inversus|ciliary dyskinesia, primary, 12|ciliary dyskinesia, primary, type 12|primary ciliary dyskinesia 12 without situs inversus OMIM:612650|ICD10:Q34.8|MESH:C567211|DOID:0110601|UMLS:C2675228 owl:Class HGNC:21057 biolink:NamedThing RSPH9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002330 biolink:NamedThing alcoholic psychosis A group of mental disorders associated with organic brain damage and caused by poisoning from alcohol. tmpaxzxjjyw_mondo_relaxed.owl alcoholic psychoses MESH:D011604|ICD9:291.8|ICD9:291.9|DOID:252|ICD9:291.89|SCTID:42344001|EFO:1001260 owl:Class UBERON:0003135 biolink:NamedThing male reproductive organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003357 biolink:NamedThing epithelium of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011192 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 18A Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive type 18A|autosomal recessive nonsyndromic deafness caused by mutation in USH1C|deafness, autosomal recessive 18|autosomal recessive nonsyndromic deafness 18A|autosomal recessive deafness 18A|autosomal recessive nonsyndromic deafness type 18A|DFNB18A|deafness, autosomal recessive 18A|USH1C autosomal recessive nonsyndromic deafness DOID:0110473|ICD10:H90.3|OMIM:602092|UMLS:C1865870|MESH:C566580 owl:Class MONDO:0012413 biolink:NamedThing syndromic microphthalmia type 5 Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations. tmpaxzxjjyw_mondo_relaxed.owl syndromic microphthalmia/anophthalmia due to OTX2 mutation|microphthalmia, syndromic 5|syndromic microphthalmia type 5|OTX2 syndromic microphthalmia|microphthalmia syndromic 5|microphthalmia, syndromic type 5|OTX2-related eye disorders|MCOPS5|syndromic microphthalmia caused by mutation in OTX2|retinal dystrophy, early-onset, with or without pituitary dysfunction Orphanet:178364|UMLS:C1864690|OMIM:610125|UMLS:C4305151|GARD:0003692|MESH:C566441|SCTID:718761007|ICD10:Q11.2 owl:Class HGNC:8522 biolink:NamedThing OTX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003698 biolink:NamedThing penis verrucous carcinoma A slow growing, locally recurring, very well differentiated papillary squamous cell carcinoma that arises from the penis. It is characterized by the presence of acanthosis and hyperkeratosis. The neoplastic infiltrate extends into the underlying stroma with a pushing border. Koilocytotic atypia is not present. tmpaxzxjjyw_mondo_relaxed.owl verrucous squamous carcinoma of the penis|verrucous penile carcinoma|verrucous penile squamous cell carcinoma|squamous carcinoma of the penis, verrucous type|verrucous carcinoma of penis|verrucous carcinoma of the penis|squamous carcinoma of penis, verrucous type|penis verrucous carcinoma|verrucous squamous carcinoma of penis|verrucous penile squamous carcinoma NCIT:C6982|DOID:5908|UMLS:C1336955|ONCOTREE:VPSCC owl:Class MONDO:0004337 biolink:NamedThing perianal skin Paget disease Paget disease involving the perianal skin. tmpaxzxjjyw_mondo_relaxed.owl perianal skin Paget's disease|perianal skin mammary Paget's disease|perianal skin Paget disease|Paget's disease of the anal margin|Paget disease of the anal margin|anal margin Paget's disease UMLS:C1332270|NCIT:C7476|DOID:7708 owl:Class UBERON:0012336 biolink:NamedThing perianal skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9587 biolink:NamedThing PTDSS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6181 biolink:NamedThing ITPR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class IAO:0000178 biolink:NamedThing material information bearer A material entity in which a concretization of an information content entity inheres. tmpaxzxjjyw_mondo_relaxed.owl owl:Class N8a0777c2d76e4f30a2c6ecb34eba587b biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0010890 biolink:NamedThing pelvic complex muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014792 biolink:NamedThing musculature of pelvic complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000060 biolink:NamedThing placental villous trophoblast A trophoblast of placental villi. These cells fuse to form synctial trophoplast - the placental side of the interface between the placenta and maternal blood sinusoids in the decidua. tmpaxzxjjyw_mondo_relaxed.owl vCTB|villous cytotrophoblast BTO:0006208|BTO:0006119 Same as synctial trophoblast? TermGenie 2014-10-07T17:48:27Z cell http://www.sciencellonline.com/site/productInformation.php?keyword=7120 owl:Class CL:0000351 biolink:NamedThing trophoblast cell A cell lining the outside of the blastocyst. After binding to the endometrium, trophoblast cells develop into two distinct layers, an inner layer of mononuclear cytotrophoblast cells and an outer layer of continuous multinuclear cytoplasm, the syncytiotrophoblast cells, which form the early fetal-maternal interface. tmpaxzxjjyw_mondo_relaxed.owl trophoblastic cell FMA:83028 cell owl:Class HGNC:10909 biolink:NamedThing SLC40A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004413 biolink:NamedThing proximal epiphysis of radius tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002775 biolink:NamedThing antimicrobial peptide production The synthesis or release of an antimicrobial peptide during an immune response, resulting in an increase in intracellular or extracellular levels. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C45980 biolink:NamedThing Absence of a Hormonal Syndrome tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000349 biolink:NamedThing extraembryonic cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0016864 biolink:NamedThing Okihiro syndrome due to a point mutation tmpaxzxjjyw_mondo_relaxed.owl Duane-radial ray syndrome due to a point mutation ICD10:Q87.8|Orphanet:261647|UMLS:CN202209 owl:Class UBERON:0009653 biolink:NamedThing trachea basement membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004695 biolink:NamedThing arterial system smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003597 biolink:NamedThing manual digit connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013720 biolink:NamedThing complement component 4b deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene. tmpaxzxjjyw_mondo_relaxed.owl C4BD|C4B deficiency|C4B classic complement early component deficiency|classic complement early component deficiency caused by mutation in C4B|complement component 4B deficiency|complement component 4b deficiency UMLS:C3280641|OMIM:614379|ICD10:D84.1|Orphanet:169147|DOID:0060298 owl:Class HGNC:1324 biolink:NamedThing C4B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0022288 biolink:NamedThing surface of eyeball tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008102 biolink:NamedThing sick sinus syndrome 2, autosomal dominant Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene. tmpaxzxjjyw_mondo_relaxed.owl sick sinus syndrome caused by mutation in HCN4|sick sinus syndrome 2, autosomal dominant|Sss, autosomal dominant|SSS2|sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation|HCN4 sick sinus syndrome|sinus bradycardia syndrome, familial, autosomal dominant|sick sinus syndrome 2|atrial fibrillation with Bradyarrhythmia|sinus node disease, familial, autosomal dominant Orphanet:166282|UMLS:C1834144|OMIM:163800|MESH:C563513 owl:Class HGNC:16882 biolink:NamedThing HCN4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:2002098 biolink:NamedThing hemal spine series tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100050 biolink:NamedThing Usher syndrome, type 1D/F Any Usher syndrome in which the cause of the disease is a mutation in the CDH23 and PCDH15 genes. tmpaxzxjjyw_mondo_relaxed.owl USH1D/F, CDH23/PCDH15, digenic|Usher syndrome, type 1D/F, CDH23/PCDH15, digenic OMIM:601067 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:14674 biolink:NamedThing PCDH15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014390 biolink:NamedThing hypotrichosis 13 Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene. tmpaxzxjjyw_mondo_relaxed.owl HYPT13|hypt13|KRT71 hypotrichosis|hypotrichosis 13|hypotrichosis type 13|hypotrichosis with woolly hair|hypotrichosis caused by mutation in KRT71 Orphanet:170|OMIM:615896|DOID:0110710|UMLS:C4014616 owl:Class HGNC:28927 biolink:NamedThing KRT71 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017849 biolink:NamedThing Siegler-Brewer-Carey syndrome Siegler-Brewer-Carey syndrome is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection, and failure to thrive. It has been recently described in two sibs born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed. tmpaxzxjjyw_mondo_relaxed.owl Siegler Brewer Carey syndrome|fatal multisystem syndrome involving the eyes, ears, lungs, intestines, and kidneys Orphanet:3167|GARD:0004867|SCTID:721076000|UMLS:C2931473|MESH:C537335 https://rarediseases.info.nih.gov/diseases/4867/siegler-brewer-carey-syndrome owl:Class MONDO:0013447 biolink:NamedThing retinitis pigmentosa 48 Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene. tmpaxzxjjyw_mondo_relaxed.owl GUCA1B retinitis pigmentosa|RP48|retinitis pigmentosa caused by mutation in GUCA1B|retinitis pigmentosa 48|retinitis pigmentosa type 48 ICD10:H35.5|UMLS:C3151190|OMIM:613827|DOID:0110382 owl:Class HGNC:4679 biolink:NamedThing GUCA1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023267 biolink:NamedThing goldstein hutt syndrome tmpaxzxjjyw_mondo_relaxed.owl long eyelashes, cataract, and hereditary spherocytosis|trichomegaly, cataract, and hereditary spherocytosis UMLS:C2931465|MESH:C537282 owl:Class MONDO:0019350 biolink:NamedThing hereditary spherocytosis Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis. tmpaxzxjjyw_mondo_relaxed.owl Minkowski Chauffard syndrome|congenital spherocytic hemolytic anemia|Minkowski-Chauffard disease|spherocytic anemia|congenital spherocytosis|hereditary spherocytosis Orphanet:822|UMLS:C0037889|NCIT:C97074|OMIM:270970|OMIM:616649|GARD:0006639|UMLS:CN206031|SCTID:55995005|OMIM:182900|MedDRA:10019904|OMIM:612690|ICD10:D58.0|OMIM:612653|DOID:12971|MESH:D013103|ICD9:282.0 https://rarediseases.info.nih.gov/diseases/6639/hereditary-spherocytosis owl:Class MONDO:0044723 biolink:NamedThing 3-methylglutaconic aciduria type 8 tmpaxzxjjyw_mondo_relaxed.owl MGA8|3-methylglutaconic aciduria type VIII|MGCA8|3-Methylglutaconic aciduria, type 8|3-methylglutaconic aciduria, type VIII|3-methylglutaconic aciduria type VIII, MGCA8|3-methylglutaconic aciduria, type VIII; MGCA8 DOID:0070000|UMLS:C4310650|OMIM:617248|Orphanet:505208 owl:Class HP:0002205 biolink:NamedThing Recurrent respiratory infections An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. tmpaxzxjjyw_mondo_relaxed.owl Multiple respiratory infections|Susceptibility to respiratory infections|Frequent respiratory infections|respiratory infections, recurrent|Recurrent respiratory infections UMLS:C3806482 HP:0002782|HP:0002873 human_phenotype owl:Class MONDO:0007164 biolink:NamedThing spastic ataxia 1 Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene. tmpaxzxjjyw_mondo_relaxed.owl VAMP1 autosomal dominant spastic ataxia|spastic ataxia type 1|autosomal dominant spastic ataxia caused by mutation in VAMP1|SPAX1|spastic ataxia 1, autosomal dominant|autosomal dominant spastic ataxia type 1 DOID:0050772|ICD10:G11.4|OMIM:108600|MESH:C566993|UMLS:C1970107|Orphanet:251282 owl:Class HGNC:12642 biolink:NamedThing VAMP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001202 biolink:NamedThing pyloric sphincter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008858 biolink:NamedThing pyloric canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012789 biolink:NamedThing dystonia 16 Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism. tmpaxzxjjyw_mondo_relaxed.owl DYT16|DYT-PRKRA|dystonia 16|dystonic disorder caused by mutation in PRKRA|early-onset dystonia parkinsonism|Young-onset dystonia-(parkinsonism)|PRKRA dystonic disorder|dystonia type 16 SCTID:722435003|ICD10:G24.1|DOID:0090048|UMLS:C2677567|Orphanet:210571|OMIM:612067|MESH:C567430|GARD:0010539 https://rarediseases.info.nih.gov/diseases/10539/dystonia-16 owl:Class HGNC:9438 biolink:NamedThing PRKRA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009868 biolink:NamedThing glycogen storage disease IXb Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency. tmpaxzxjjyw_mondo_relaxed.owl PHKB glycogen storage disease|glycogen storage disease type IXb|glycogenosis due to liver and muscle phosphorylase kinase deficiency|glycogenosis of liver and muscle, autosomal recessive|glycogenosis type 9B|glycogen storage disease due to liver and muscle phosphorylase kinase deficiency|GSD due to liver and muscle phosphorylase kinase deficiency|glycogen storage disease IXb|glycogenosis type IXb|GSD type IXb|GSD IXb|glycogen storage disease caused by mutation in PHKB|GSD9B|glycogen storage disease type 9B|GSD type 9B|PHKB-related glycogen storage disease type IX|phosphorylase kinase deficiency of liver and muscle, autosomal recessive UMLS:C0543514|OMIM:261750|DOID:0111041|ICD10:E74.0|Orphanet:79240|MESH:C563008 owl:Class HGNC:8927 biolink:NamedThing PHKB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013062 biolink:NamedThing long QT syndrome 12 Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene. tmpaxzxjjyw_mondo_relaxed.owl LQT12|SNTA1 long QT syndrome|long QT syndrome 12|long QT syndrome caused by mutation in SNTA1|long QT syndrome type 12 OMIM:612955|DOID:0110653|ICD10:I45.8|Orphanet:101016|MESH:C567842|Orphanet:768|UMLS:C2751830 owl:Class HGNC:11167 biolink:NamedThing SNTA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014164 biolink:NamedThing Meckel syndrome, type 11 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene. tmpaxzxjjyw_mondo_relaxed.owl MKS11|TMEM231 Meckel syndrome|Meckel syndrome caused by mutation in TMEM231|Meckel syndrome, type 11 Orphanet:564|OMIM:615397|UMLS:C3809352 owl:Class MONDO:0022926 biolink:NamedThing daentl towsend Siegel syndrome tmpaxzxjjyw_mondo_relaxed.owl hydrocephalus blue sclera nephropathy|familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome MESH:C535768|GARD:0000236 https://rarediseases.info.nih.gov/diseases/236/daentl-towsend-siegel-syndrome owl:Class UBERON:0007522 biolink:NamedThing striated muscle sphincter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010343 biolink:NamedThing 2nd arch mesenchyme from head mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001902 biolink:NamedThing congenital agammaglobulinemia An instance of agammaglobulinemia that is present from birth. tmpaxzxjjyw_mondo_relaxed.owl congenital hypogammaglobulinemia (finding)|congenital agammaglobulinemia|congenital hypogammaglobulinaemia DOID:14177|ICD9:279.04|UMLS:C1457897 owl:Class PO:0009010 biolink:NamedThing seed A multi-tissue plant structure (PO:0025496) that develops from a plant ovule (PO:0020003) and has as parts a plant embryo (PO:0009009) enclosed in a seed coat (PO:0009088). tmpaxzxjjyw_mondo_relaxed.owl 種子 (Japanese, exact)|pyrene (narrow)|diaspore (broad)|semilla (Spanish, exact) PO_GIT:405 A seed generally develops from an ovule (PO:0020003) after fertilization, but may develop without fertilization in the case of apogamy (e.g., adventitious embryos or somatic embryos). A seed is a reproductive unit of seed plants (gymnosperms, angiosperms, and fossil pteridosperms). plant_anatomy owl:Class MONDO:0700017 biolink:NamedThing chromosome 10 disorder Chromosomal disorder in which chromosome 10 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0001333 biolink:NamedThing male urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014248 biolink:NamedThing autism spectrum disorder - epilepsy - arthrogryposis syndrome SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21). tmpaxzxjjyw_mondo_relaxed.owl AMRS|arthrogryposis, mental retardation, and seizures|arthrogryposis, intellectual disability, and seizures|SLC35A3-CDG ICD10:Q87.8|OMIM:615553|Orphanet:370943|UMLS:C3809910 owl:Class MONDO:0012309 biolink:NamedThing parietal foramina 2 Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene. tmpaxzxjjyw_mondo_relaxed.owl parietal foramina 2|parietal foramina caused by mutation in ALX4|parietal foramina type 2|PFM2|ALX4 parietal foramina UMLS:C1865044|Orphanet:60015|OMIM:609597|MESH:C566510 owl:Class HGNC:450 biolink:NamedThing ALX4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000613 biolink:NamedThing basophil progenitor cell A progenitor cell committed to the basophil lineage. This cell lacks hematopoietic lineage markers (lin-negative) and is CD34-positive, T1/ST2-low, CD117-negative, and FceRIa-high. This cell also expresses Gata-1, Gata-2 and C/EBPa. tmpaxzxjjyw_mondo_relaxed.owl BaP|basophilic stem cell|CFU-Bas|colony forming unit basophil BaP are also CD13-low and integrin beta-7-low. They are lin-negative (CD2, CD3e, CD4, CD5, CD8, CD11b, CD14, CD19, CD20, ly6g, ly76, and NCAM-1). They also lack expression of mast cell protease 1 (MCP-1) and microphthalmia-associated transcription factor (mitf). cell owl:Class CL:0002028 biolink:NamedThing basophil mast progenitor cell A cell type that can give rise to basophil and mast cells. This cell is CD34-positive, CD117-positive, CD125-positive, FceRIa-negative, and T1/ST2-negative, and expresses Gata-1, Gata-2, C/EBPa tmpaxzxjjyw_mondo_relaxed.owl BMCP There may be an intermediate cell type. These cells also CD13-positive, CD16-positive, CD32-positive, and integrin beta 7-positive. Transcription factors: GATA1-positive, MCP-1-positive, mitf-positive, PU.1-positive, and CEBP/a-low. tmeehan 2010-04-27T12:46:33Z cell owl:Class CL:0000178 biolink:NamedThing Leydig cell A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis. tmpaxzxjjyw_mondo_relaxed.owl interstitial cell|interstitial cell of Leydig EMAPA:29655|CALOHA:TS-1150|FMA:72297|BTO:0000755 Note that the Amphibian Anatomy Ontology (AA) has a class 'leydig cells' but this is unrelated cell owl:Class UBERON:0003268 biolink:NamedThing tooth of lower jaw tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012816 biolink:NamedThing atrial fibrillation, familial, 6 Any familial atrial fibrillation in which the cause of the disease is a mutation in the NPPA gene. tmpaxzxjjyw_mondo_relaxed.owl atrial fibrillation, familial, type 6|NPPA familial atrial fibrillation|ATFB6|familial atrial fibrillation caused by mutation in NPPA|atrial fibrillation, familial, 6 UMLS:C2677294|OMIM:612201|Orphanet:334|MESH:C567400 owl:Class HGNC:7939 biolink:NamedThing NPPA tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042745 biolink:NamedThing circadian sleep/wake cycle The cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010506 biolink:NamedThing meningeal dura mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004779 biolink:NamedThing respiratory system lamina propria tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010172 biolink:NamedThing VACTERL with hydrocephalus VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association. tmpaxzxjjyw_mondo_relaxed.owl VACTERL association with hydrocephalus|VACTERL association with hydrocephaly|Vater association with hydrocephalus|Vater association with macrocephaly and ventriculomegaly|Sujansky-Leonard syndrome|VACTERL hydrocephaly|vertebral (V), anal (A), cardiac (C), tracheoesophageal (te), renal (R) and limb (L) anomalies and hydrocephaly|VACTERL-H OMIM:276950|OMIM:314390|UMLS:C1848599|ICD10:Q87.8|Orphanet:3412|GARD:0000272 owl:Class UBERON:0006913 biolink:NamedThing lip epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009844 biolink:NamedThing urogenital sinus lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002866 biolink:NamedThing duodenal disorder Pathological conditions in the duodenum region of the small intestine (intestine, small). tmpaxzxjjyw_mondo_relaxed.owl duodenum disease or disorder|disease or disorder of duodenum|disorder of duodenum|duodenum disorder|disease of duodenum|duodenum disease ICD9:537.9|ICD9:537.89|SCTID:52182008|DOID:4072|MESH:D004378|UMLS:C0013289 owl:Class MONDO:0018740 biolink:NamedThing drug-induced methemoglobinemia Methemoglobinemia that is caused by exposure to certain drugs (xylocaine and benzene). tmpaxzxjjyw_mondo_relaxed.owl drug induced methemoglobinemia|acquired methemoglobinemia UMLS:C0271905|SCTID:191390009|Orphanet:464453|ICD10:D74.8|NCIT:C101045 owl:Class GO:0007632 biolink:NamedThing visual behavior The behavior of an organism in response to a visual stimulus. tmpaxzxjjyw_mondo_relaxed.owl behavioral response to visual stimulus|visual behaviour|behavioural response to visual stimulus owl:Class MONDO:0008437 biolink:NamedThing hereditary spastic paraplegia 3A Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene. tmpaxzxjjyw_mondo_relaxed.owl Strümpell disease|ATL1 hereditary spastic paraplegia|spastic paraplegia 3, autosomal dominant|autosomal dominant spastic paraplegia type 3|SPG3A|spastic Paraplegia 3A|strumpell disease|hereditary spastic paraplegia type 3A|spastic paraplegia 3|autosomal dominant spastic paraplegia 3|FSP1|hereditary spastic paraplegia caused by mutation in ATL1|Spg3|Strumpell disease|familial spastic paraplegia, autosomal dominant, 1|autosomal dominant familial spastic paraplegia 1 MESH:C536864|DOID:0110791|NCIT:C142893|OMIM:182600|Orphanet:100984|ICD10:G11.4|GARD:0005041|UMLS:C2931355 owl:Class HGNC:11231 biolink:NamedThing ATL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045272 biolink:NamedThing plasma membrane respiratory chain complex I A subcomplex of the respiratory chain located in the plasma membrane. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. Examples of this component are found in bacterial species. tmpaxzxjjyw_mondo_relaxed.owl respiratory chain complex I|NADH dehydrogenase (ubiquinone) complex owl:Class GO:0070470 biolink:NamedThing plasma membrane respirasome A respiratory chain located in the plasma membrane of a cell; made up of the protein complexes that form the electron transport system (the respiratory chain), associated with the plasma membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. tmpaxzxjjyw_mondo_relaxed.owl plasma membrane electron transport chain|plasma membrane respiratory chain owl:Class MONDO:0016823 biolink:NamedThing mycetoma Mycetomas are subcutaneous inflammatory pseudotumors containing fungal or actinomycetic (bacteria with branched filaments) granules or grains. tmpaxzxjjyw_mondo_relaxed.owl Madura foot SCTID:410039003|ICD10:B47.9|ICD10:B47.0|ICD10:B47.1|GARD:0003862|UMLS:C0024449|NCIT:C85505|Orphanet:2583|MESH:D008271|MedDRA:10028427|ICD10:B47 owl:Class HGNC:12827 biolink:NamedThing XPR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr14q3 biolink:NamedThing 14q3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 107043718 78800000 hg38 owl:Class UBERON:0013247 biolink:NamedThing male paramesonephric duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008150 biolink:NamedThing osteoglophonic dwarfism Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth. tmpaxzxjjyw_mondo_relaxed.owl OGD|osteoglophonic dwarfism|Osteoglosphonic dysplasia|OSTEOGLOPHONIC dysplasia|Fairbank-Keats syndrome DOID:0111532|MESH:C536050|GARD:0004142|SCTID:254144002|ICD10:Q87.1|OMIM:166250|Orphanet:2645 owl:Class UBERON:0010709 biolink:NamedThing pelvic complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004883 biolink:NamedThing lung mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021537 biolink:NamedThing undifferentiated carcinoma of nasopharynx A undifferentiated carcinoma that involves the nasopharynx. tmpaxzxjjyw_mondo_relaxed.owl undifferentiated carcinoma of the nasopharynx|lymphoepithelioma of the nasopharynx|nasopharynx undifferentiated carcinoma|nasopharyngeal nonkeratinizing undifferentiated carcinoma|lymphoepithelioma of nasopharynx|nasopharyngeal lymphoepithelioma|undifferentiated nasopharyngeal throat cancer|nasopharyngeal undifferentiated carcinoma SCTID:422541001|UMLS:C0279748|NCIT:C8023 owl:Class GO:0006591 biolink:NamedThing ornithine metabolic process The chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis. tmpaxzxjjyw_mondo_relaxed.owl ornithine metabolism owl:Class UBERON:0004737 biolink:NamedThing metanephric collecting duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005110 biolink:NamedThing metanephric nephron tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:15365 biolink:NamedThing acetylsalicylic acid A member of the class of benzoic acids that is salicylic acid in which the hydrogen that is attached to the phenolic hydroxy group has been replaced by an acetoxy group. A non-steroidal anti-inflammatory drug with cyclooxygenase inhibitor activity. tmpaxzxjjyw_mondo_relaxed.owl Azetylsalizylsaeure|o-carboxyphenyl acetate|Acetylsalicylate|Acetylsalicylic acid|salicylic acid acetate|acide 2-(acetyloxy)benzoique|Aspirin|2-(ACETYLOXY)BENZOIC ACID|acide acetylsalicylique|o-acetoxybenzoic acid|ASA|Acetylsalicylsaeure|2-acetoxybenzoic acid|acidum acetylsalicylicum|2-Acetoxybenzenecarboxylic acid|Easprin|O-acetylsalicylic acid|acido acetilsalicilico|2-(acetyloxy)benzoic acid owl:Class MONDO:0014024 biolink:NamedThing hereditary spastic paraplegia 43 Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported. tmpaxzxjjyw_mondo_relaxed.owl C19orf12 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia type 43|hereditary spastic paraplegia type 43|autosomal recessive spastic paraplegia 43|autosomal recessive complex spastic paraplegia caused by mutation in C19orf12|spastic paraplegia 43, autosomal recessive|SPG43 ICD10:G11.4|UMLS:C2680446|Orphanet:320370|SCTID:764736001|OMIM:615043|DOID:0110795 owl:Class GO:0031268 biolink:NamedThing pseudopodium organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. tmpaxzxjjyw_mondo_relaxed.owl pseudopodium organization and biogenesis|pseudopodium organisation owl:Class MONDO:0013567 biolink:NamedThing atrial septal defect 3 Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene. tmpaxzxjjyw_mondo_relaxed.owl ASD3|atrial heart septal defect type 3|atrial septal defect 3|atrial heart septal defect caused by mutation in MYH6|atrial septal defect type 3|MYH6 atrial heart septal defect DOID:0110108|ICD10:Q21.1|UMLS:C3279790|MESH:C563540|OMIM:614089|Orphanet:1478 owl:Class HGNC:7576 biolink:NamedThing MYH6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr5q31 biolink:NamedThing 5q31 (Human) tmpaxzxjjyw_mondo_relaxed.owl 145100000 131200000 hg38 owl:Class MONDO:0012350 biolink:NamedThing complement factor H deficiency tmpaxzxjjyw_mondo_relaxed.owl Cfh deficiency|complement factor H deficiency|factor H deficiency|CFHD MESH:C562875|Orphanet:93579|Orphanet:93571|SCTID:234622003|Orphanet:2134|OMIM:609814|Orphanet:200421|ICD9:279.8|Orphanet:54370|Orphanet:329918 owl:Class MONDO:0019498 biolink:NamedThing tungiasis An disease or disorder caused by infection with Tunga penetrans. tmpaxzxjjyw_mondo_relaxed.owl Tunga penetrans infectious disease|Sarcopsylla penetrans|T penetrans|Tunga penetrans caused disease or disorder|S penetrans|Tunga penetrans disease or disorder|Tunga penetrans|chigger flea EFO:1001445|MESH:D058285|DOID:0050266|SCTID:64612002|UMLS:C0277356|ICD10:B88.1|Orphanet:879|ICD9:134.1|GARD:0000393 https://rarediseases.info.nih.gov/diseases/393/tungiasis owl:Class MONDO:0022173 biolink:NamedThing chromosome 11q trisomy tmpaxzxjjyw_mondo_relaxed.owl trisomy 11q|Duplication 11q MESH:C538297 owl:Class OBO:CHR_9606-chr11q biolink:NamedThing 11q (Human) tmpaxzxjjyw_mondo_relaxed.owl 135086622 53400000 hg38 owl:Class UBERON:0010701 biolink:NamedThing phalanx cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013255 biolink:NamedThing arthrogryposis, renal dysfunction, and cholestasis 2 Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene. tmpaxzxjjyw_mondo_relaxed.owl ARCS2|arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39|arthrogryposis, renal dysfunction, and cholestasis 2|VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome|arthrogryposis, renal dysfunction, and cholestasis type 2 UMLS:C3150672|OMIM:613404|DOID:0111354|Orphanet:2697 owl:Class HGNC:20347 biolink:NamedThing VIPAS39 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032879 biolink:NamedThing regulation of localization Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. tmpaxzxjjyw_mondo_relaxed.owl regulation of localisation owl:Class UBERON:0001768 biolink:NamedThing uvea tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006232 biolink:NamedThing facio-acoustic VII-VIII preganglion complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000805 biolink:NamedThing immature single positive thymocyte A thymocyte that has the phenotype CD4-negative, CD8-positive, CD44-negative, CD25-negative, and pre-TCR-positive. tmpaxzxjjyw_mondo_relaxed.owl immature single positive T lymphocyte|ISP|immature single positive T cell|immature single positive T-lymphocyte|T.ISP.th Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and rearranging the T cell receptor alpha chain and expressing the CD8 coreceptor. This stage comes between the DN4 and DP stages. cell owl:Class CL:0000808 biolink:NamedThing DN4 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, CD25-negative, and pre-TCR-positive. tmpaxzxjjyw_mondo_relaxed.owl DN4 cell|early cortical thymocyte|T.DN4.th|DN4 alpha-beta immature T-lymphocyte|DN4 alpha-beta immature T lymphocyte|DN4 immature T cell|DN4 immature T-cell|double negative 4 Note that this type of thymocyte has passed the beta-selection checkpoint and is rapidly proliferating and beginning to rearrange the T cell receptor alpha chain. cell owl:Class MONDO:0012258 biolink:NamedThing epidermolysis bullosa simplex with circinate migratory erythema Epidermolysis bullosa simplex with circinate migratory erythema (EBS-migr) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by belt-like areas of erythema with multiple vesicles and small blisters at the advancing edge of erythema. tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa simplex with migratory circinate erythema|EBS-migr Orphanet:158681|UMLS:C1836284|MESH:C563730|OMIM:609352|SCTID:716700003|ICD10:Q81.0 owl:Class UBERON:0000104 biolink:NamedThing life cycle An entire span of an organism's life, commencing with the zygote stage and ending in the death of the organism. tmpaxzxjjyw_mondo_relaxed.owl life|entire lifespan|lifespan|entire life cycle owl:Class UBERON:0000071 biolink:NamedThing death stage End of the life of an organism. tmpaxzxjjyw_mondo_relaxed.owl death owl:Class UBERON:0003111 biolink:NamedThing sphenoid region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100476 biolink:NamedThing lipodystrophy, partial, acquired, susceptibility to An inherited susceptibility or predisposition to developing aquired partial lipodystrophy. tmpaxzxjjyw_mondo_relaxed.owl lipodystrophy, partial, progressive|lipodystrophy, cephalothoracic type|barraquer-simons syndrome|lipodystrophy, partial, acquired, susceptibility|APLD, susceptibility to OMIM:608709|UMLS:C3887501 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:14604 biolink:NamedThing AMN tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005401 biolink:NamedThing cerebral hemisphere gray matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006266 biolink:NamedThing nasolacrimal groove tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012313 biolink:NamedThing 1st arch maxillary ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010882 biolink:NamedThing limb bone pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012521 biolink:NamedThing herpes simplex encephalitis Herpes simplex virus encephalitis (HSE) is caused by the infection of the central nervous system by Herpes simplex virus (HSV) that could have a devastating clinical course and a potentially fatal outcome particularly with delay or lack of treatment. HSV often involves the frontal and temporal lobes, usually asymmetrically, resulting in personality changes, cognitive impairment, aphasia, seizures, and focal weakness. tmpaxzxjjyw_mondo_relaxed.owl Herpes simplex meningo-encephalitis|Herpes simplex virus encephalitis|HSV encephalitis|herpetic encephalitis|Simplexvirus caused infectious encephalitis|Simplexvirus infectious encephalitis|HSE|HSVE|Herpes simplex neuroinvasion OMIM:614850|Orphanet:1930|GARD:0006649|OMIM:614849|MESH:D020803|OMIM:616532|NCIT:C84762|ICD10:G05.1*|OMIM:613002|ICD10:B00.4+|OMIM:610551 https://rarediseases.info.nih.gov/diseases/6649/herpes-simplex-encephalitis owl:Class GO:0047708 biolink:NamedThing biotinidase activity Catalysis of the reaction: biotin amide + H2O = biotin + NH3. tmpaxzxjjyw_mondo_relaxed.owl biotin-amide amidohydrolase activity|amidohydrolase biotinidase activity owl:Class OBO:CHR_9606-chr16p13 biolink:NamedThing 16p13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 16700000 0 hg38 owl:Class MONDO:0009787 biolink:NamedThing 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria. tmpaxzxjjyw_mondo_relaxed.owl OPA3, autosomal recessive|infantile optic atrophy with chorea and spastic paraplegia|3-methylglutaconic aciduria, type 3|autosomal recessive optic atrophy type 3|MGA type III|optic atrophy infantile with chorea and spastic paraplegia|OPA3 3-methylglutaconic aciduria|optic atrophy 3, autosomal recessive|Iraqi Jewish optic atrophy plus|OPA3 defect|MGCA3|Iraqi-Jewish 'optic atrophy plus'|3-methylglutaconic aciduria type III|Iraqi-Jewish optic atrophy plus|3-methylglutaconic aciduria caused by mutation in OPA3|Costeff syndrome|optic atrophy, infantile, with chorea and spastic paraplegia|MGA, type 3|optic atrophy plus syndrome|Costeff optic atrophy syndrome|autosomal recessive optic atrophy plus syndrome|3-methylglutaconic aciduria, type III|MGA3|3-alpha methylglutaconic aciduria type III OMIM:258501|Orphanet:67047|UMLS:C0574084|SCTID:297232009|MESH:C535311|ICD10:E71.1|DOID:0110004|GARD:0005663 owl:Class HGNC:8142 biolink:NamedThing OPA3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016937 biolink:NamedThing short-branched-chain-acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a short branched chain fatty acid residue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000726 biolink:NamedThing negative regulation of cardiac muscle cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cardiomyocyte differentiation|negative regulation of heart muscle cell differentiation owl:Class GO:0055007 biolink:NamedThing cardiac muscle cell differentiation The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. tmpaxzxjjyw_mondo_relaxed.owl cardiomyocyte differentiation|heart muscle cell differentiation owl:Class ENVO:02500031 biolink:NamedThing hydrological process An environmental process which has water - in any of its states - as a participant. tmpaxzxjjyw_mondo_relaxed.owl owl:Class Nfd2388bcbbe6456394cd1584610ceb7a biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0034996 biolink:NamedThing outer renal medulla loop of Henle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005343 biolink:NamedThing cortical plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001154 biolink:NamedThing volatile astrogeological material A material which is composed primarily of chemical elements and compounds with relatively low boiling points, equilibrium condensation temperatures below 1300 Kelvin, and which are part of the crust or atmosphere of a moon or planet. tmpaxzxjjyw_mondo_relaxed.owl volatile owl:Class N77f2553828424d4fa6123d7f07a12f4f biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0004140 biolink:NamedThing primary heart field tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000828 biolink:NamedThing thromboblast A progenitor cell of the thrombocyte, a nucleated blood cell involved in coagulation typically seen in birds and other non-mammalian vertebrates. tmpaxzxjjyw_mondo_relaxed.owl Note that this is a non-mammalian cell type. cell owl:Class MONDO:0013595 biolink:NamedThing hyperbiliverdinemia Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported. tmpaxzxjjyw_mondo_relaxed.owl HBLVD|green jaundice|hyperbiliverdinemia Orphanet:276405|UMLS:C3279964|OMIM:614156|ICD10:K76.8 owl:Class HGNC:1062 biolink:NamedThing BLVRA tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0140237 biolink:NamedThing translation at presynapse, modulating chemical synaptic transmission Translation that occurs at the presynapse, and that modulates chemical synaptic transmission. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016943 biolink:NamedThing partial duplication of the short arm of chromosome 6 Chromosome 6p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. This condition can occur sporadically or be inherited from aparent who is either mildy affected (has the deletion) or carries a balanced translocation. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl 6p trisomy|partial trisomy of the short arm of chromosome 6|trisomy 6p|partial trisomy 6p|Duplication 6p|partial duplication of the short arm of chromosome type 6|6p duplication|partial duplication of chromosome 6p|chromosome 6p duplication|partial trisomy of chromosome 6p UMLS:CN036641|Orphanet:262740|GARD:0005352|MESH:C537811 owl:Class MONDO:0000653 biolink:NamedThing integumentary system cancer A malignant neoplasm involving the integumental system tmpaxzxjjyw_mondo_relaxed.owl malignant integumental system neoplasm|malignant neoplasm of integumental system|cancer of integumental system|integumental system cancer DOID:0060122 owl:Class OBO:CHR_9606-chrXq2 biolink:NamedThing Xq2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 156040895 76800000 hg38 owl:Class OBO:CHR_9606-chrXq biolink:NamedThing Xq (Human) tmpaxzxjjyw_mondo_relaxed.owl 156040895 61000000 hg38 owl:Class MONDO:0007523 biolink:NamedThing Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS, a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations. tmpaxzxjjyw_mondo_relaxed.owl benign hypermobility syndrome|Ehlers-Danlos syndrome type 3|Ehlers-Danlos syndrome, hypermobile type|EDS 3|HT-EDS|hEDS|hypermobile EDS|Ehlers-Danlos syndrome, type III|BJHS|EDS III|Ehlers-Danlos syndrome, type 3|Ehlers-Danlos syndrome, hypermobility type|Ehlers-Danlos syndrome type 3 (formerly)|EDS3 (formerly)|EDSHMB|hypermobile Ehlers-Danlos syndrome|benign joint hypermobility syndrome MESH:C536196|Orphanet:285|NCIT:C125698|ICD10:Q79.6|SCTID:30652003|DOID:14757|OMIM:130020|GARD:0002081|UMLS:C0268337 owl:Class HGNC:2201 biolink:NamedThing COL3A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007984 biolink:NamedThing metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. tmpaxzxjjyw_mondo_relaxed.owl metaphyseal dysplasia maxillary hypoplasia brachydactyly|metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly|MDMHB DOID:0111513|OMIM:156510|UMLS:CN201864|ICD10:Q77.8|Orphanet:2504|GARD:0003568 https://rarediseases.info.nih.gov/diseases/3568/metaphyseal-dysplasia-maxillary-hypoplasia-brachydactyly owl:Class HGNC:10472 biolink:NamedThing RUNX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000921 biolink:NamedThing ampulla of vater neoplasm A benign or malignant neoplasm involving the ampulla of Vater. tmpaxzxjjyw_mondo_relaxed.owl hepatopancreatic ampulla neoplasm (disease)|tumor of the ampulla of Vater|tumor of ampulla of Vater|tumor of hepatopancreatic ampulla|neoplasm of ampulla of Vater|hepatopancreatic ampulla tumor|ampulla of Vater tumor|hepatopancreatic ampulla neoplasm|AMPULLAOFVATER|neoplasm of hepatopancreatic ampulla|neoplasm of the ampulla of Vater DOID:10022|SCTID:126858004|UMLS:C0345916|ONCOTREE:AMPULLAOFVATER|NCIT:C4443 owl:Class HGNC:1078 biolink:NamedThing BMPR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0100255 biolink:NamedThing Metaphyseal dysplasia The presence of dysplastic regions in metaphyseal regions. tmpaxzxjjyw_mondo_relaxed.owl MSH:C536252|UMLS:C0265294|SNOMEDCT_US:27837003 doelkens 2010-07-14T05:15:56Z HP:0006427|HP:0005002|HP:0000948|HP:0005704|HP:0005636 human_phenotype owl:Class MONDO:0014048 biolink:NamedThing Cowden syndrome 6 Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene. tmpaxzxjjyw_mondo_relaxed.owl AKT1 Cowden disease|Cowden syndrome 6|CWS6|Cowden syndrome type 6|Cowden disease caused by mutation in AKT1 UMLS:C3554519|Orphanet:201|OMIM:615109 owl:Class HGNC:391 biolink:NamedThing AKT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000296 biolink:NamedThing epithelial cell of urethra An epithelial cell that is part of the urethra. tmpaxzxjjyw_mondo_relaxed.owl FMA:256165 cell owl:Class UBERON:0016880 biolink:NamedThing future nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009191 biolink:NamedThing sphenoid bone pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006761 biolink:NamedThing corneo-scleral junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014862 biolink:NamedThing cerebral palsy, spastic quadriplegic, 3 Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene. tmpaxzxjjyw_mondo_relaxed.owl ADD3 spastic quadriplegia|CPSQ3|spastic quadriplegia caused by mutation in ADD3|cerebral palsy, spastic quadriplegic, 3|cerebral palsy, spastic quadriplegic, 3; CPSQ3|cerebral palsy, spastic quadriplegic, type 3 UMLS:C4310767|OMIM:617008 owl:Class MONDO:0012439 biolink:NamedThing Alagille syndrome due to a NOTCH2 point mutation tmpaxzxjjyw_mondo_relaxed.owl Alagille syndrome due to a NOTCH2 point mutation|Alagille syndrome 2|ALGS2|Arteriohepatic dysplasia due to a NOTCH2 point mutation|Alagille syndrome type 2|syndromic bile duct paucity due to a NOTCH2 point mutation|Alagille-Watson syndrome due to a NOTCH2 point mutation ICD10:Q44.7|OMIM:610205|Orphanet:52|UMLS:C1857761|Orphanet:261629 owl:Class HGNC:2711 biolink:NamedThing DCTN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032792 biolink:NamedThing neuropathy, hereditary motor and sensory, type VIc, with optic atrophy tmpaxzxjjyw_mondo_relaxed.owl HMSN6C|CMT 6C|HMSN 6C|Charcot-Marie-Tooth Disease, Type 6C|CMT6C|neuropathy, hereditary motor and sensory, type VIc, with optic atrophy OMIM:618511 owl:Class HGNC:8819 biolink:NamedThing PDXK tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13398 biolink:NamedThing NSDHL tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:26835 biolink:NamedThing sulfur molecular entity tmpaxzxjjyw_mondo_relaxed.owl sulfur molecular entity|sulfur molecular entities owl:Class CHEBI:26833 biolink:NamedThing sulfur atom tmpaxzxjjyw_mondo_relaxed.owl soufre|sulphur|16S|Elemental sulfur|sulfur|theion|S|Schwefel|azufre owl:Class MONDO:0000266 biolink:NamedThing pulmonary aspergilloma A aspergillosis that involves the lung. tmpaxzxjjyw_mondo_relaxed.owl lung aspergillosis DOID:0050153|UMLS:C2350529|MESH:D055732 owl:Class N829858ca98434c46a77b6ab44943fb78 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010092 biolink:NamedThing Filippi syndrome Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Filippi syndrome|syndactyly type I with microcephaly and mental retardation|syndactyly, type I, with microcephaly and intellectual disability|syndactyly type I with microcephaly and intellectual disability|FILIPPI syndrome|syndactyly, type I, with microcephaly and mental retardation|unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly|Scott craniodigital syndrome with mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome|FLPIS|unusual facial appearance, microcephaly, growth and mental retardation and syndactyly|Scott craniodigital syndrome with intellectual disability SCTID:720954000|MESH:C538152|UMLS:C0795940|ICD10:Q87.8|GARD:0000062|OMIM:272440|Orphanet:3255 owl:Class HGNC:26877 biolink:NamedThing CKAP2L tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001051 biolink:NamedThing acute otitis externa Acute form of otitis externa. tmpaxzxjjyw_mondo_relaxed.owl otitis externa, acute|acute bacterial inflammation of external ear|acute otitis externa|acute otitis externa, diffuse|acute swimmers' ear|beach ear|tank ear|acute swimmer's ear DOID:10518|MEDGEN:508459|ICD9:380.12|UMLS:C0149948|SCTID:30250000 owl:Class MONDO:0006059 biolink:NamedThing nasal cavity squamous cell carcinoma A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass. tmpaxzxjjyw_mondo_relaxed.owl nasal cavity squamous cell carcinoma|squamous cell carcinoma of nasal cavity|squamous cell carcinoma of the nasal cavity NCIT:C8192|EFO:1000057|UMLS:C0280333|DOID:5515 owl:Class UBERON:0001271 biolink:NamedThing pelvic girdle region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001832 biolink:NamedThing sublingual gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007384 biolink:NamedThing appendage lymph vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000071 biolink:NamedThing mammary microvascular endothelial cell Any microvascular endothelial cell that is part of a breast. tmpaxzxjjyw_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7600 TermGenie 2014-10-07T19:55:30Z cell owl:Class MONDO:0014329 biolink:NamedThing atrial standstill 2 Any atrial standstill in which the cause of the disease is a mutation in the NPPA gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, atrial dilated, with atrial standstill|ATRST2|atrial dilation and standstill|atrial standstill type 2|NPPA atrial standstill|atrial standstill caused by mutation in NPPA|atrial standstill 2 UMLS:C3810401|Orphanet:1344|OMIM:615745 owl:Class MONDO:0014790 biolink:NamedThing TMEM199-CDG tmpaxzxjjyw_mondo_relaxed.owl CDG IIp|congenital disorder of glycosylation type 2p|carbohydrate deficient glycoprotein syndrome type IIp|CDG-IIp|CDG2P|congenital disorder of glycosylation type IIp|congenital disorder of glycosylation, type IIp|CDG syndrome type IIp DOID:0070268|UMLS:C4225190|OMIM:616829|Orphanet:466703 owl:Class GO:0090285 biolink:NamedThing negative regulation of protein glycosylation in Golgi Any process that decreases the rate, frequency, or extent of the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of protein amino acid glycosylation in Golgi owl:Class MONDO:0012593 biolink:NamedThing brain-lung-thyroid syndrome Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC). tmpaxzxjjyw_mondo_relaxed.owl CAHTP|choreoathetosis-hypothyroidism-neonatal respiratory distress|BLT syndrome|choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome|choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction SCTID:719098007|Orphanet:209905|ICD10:E03.1|OMIM:610978|MESH:C567034|GARD:0012163 https://rarediseases.info.nih.gov/diseases/12163/brain-lung-thyroid-syndrome owl:Class HGNC:11825 biolink:NamedThing NKX2-1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009259 biolink:NamedThing gamma-glutamylcysteine synthetase deficiency Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported. tmpaxzxjjyw_mondo_relaxed.owl glutamate-cysteine ligase deficiency|rare inborn error of glutamate-cysteine ligase activity|inborn glutamate-cysteine ligase activity disorder|gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to|inborn error of glutamate-cysteine ligase activity Orphanet:33574|MESH:C565557|ICD9:270.8|SCTID:36799008|DOID:0111681|OMIM:230450|ICD10:D55.1 owl:Class HGNC:4311 biolink:NamedThing GCLC tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:57986 biolink:NamedThing riboflavin(1-) An organic anion that is the conjugate base of riboflavin resulting from the removal of a proton from the nitrogen at position 3 (between the two carbonyl groups). Major microspecies at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl riboflavin anion|7,8-dimethyl-2,4-dioxo-10-[(2S,3S,4R)-2,3,4,5-tetrahydroxypentyl]-2H,3H,4H,10H-benzo[g]pteridin-3-ide|riboflavin|1-deoxy-1-(7,8-dimethyl-2,4-dioxo-2H-benzo[g]pteridin-3-id-10(4H)-yl)-D-ribitol|vitamin B2(1-) owl:Class MONDO:0014245 biolink:NamedThing Diamond-Blackfan anemia 12 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL15 gene. tmpaxzxjjyw_mondo_relaxed.owl Diamond-Blackfan Anemia type 12|DBA12|Diamond-Blackfan anemia 12|RPL15 Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPL15 UMLS:C3809888|Orphanet:124|OMIM:615550 owl:Class HGNC:10306 biolink:NamedThing RPL15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009653 biolink:NamedThing anatomical structure morphogenesis The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. tmpaxzxjjyw_mondo_relaxed.owl anatomical structure organization|embryogenesis and morphogenesis|morphogenesis owl:Class UBERON:0003988 biolink:NamedThing thymus corticomedullary boundary tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000451 biolink:NamedThing dendritic cell A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. These cells are lineage negative (CD3-negative, CD19-negative, CD34-negative, and CD56-negative). tmpaxzxjjyw_mondo_relaxed.owl veiled cell|interdigitating cell CALOHA:TS-0194|BTO:0002042|FMA:83036 cell owl:Class MONDO:0011325 biolink:NamedThing Fanconi anemia complementation group F Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM. tmpaxzxjjyw_mondo_relaxed.owl FANCF|Fanconi anemia, complementation group F|Fanconi Anemia, complementation group type F|Fanconi anemia complementation group F|Fanconi anemia complementation group type F NCIT:C125707|EFO:0009045|DOID:0111088|OMIM:603467 owl:Class HGNC:3587 biolink:NamedThing FANCF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021962 biolink:NamedThing baetz-greenwalt syndrome tmpaxzxjjyw_mondo_relaxed.owl hypoplastic right-sided heart complex MESH:C537795|UMLS:C2931615|GARD:0009216 https://rarediseases.info.nih.gov/diseases/9216/baetz-greenwalt-syndrome owl:Class MONDO:0014745 biolink:NamedThing congenital myasthenic syndrome 19 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital myasthenic syndrome caused by mutation in COL13A1|CMS19|COL13A1 congenital myasthenic syndrome|myasthenic syndrome, congenital, type 19|congenital myasthenic syndrome type 19|myasthenic syndrome, congenital, 19 UMLS:C4225235|DOID:0110673|OMIM:616720 owl:Class HGNC:2190 biolink:NamedThing COL13A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr10q23 biolink:NamedThing 10q23 (Human) tmpaxzxjjyw_mondo_relaxed.owl 95300000 80300000 hg38 owl:Class MONDO:0010306 biolink:NamedThing X-linked intellectual disability, Cabezas type X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome. tmpaxzxjjyw_mondo_relaxed.owl MRXS15|Cabezas syndrome; syndromic X-linked intellectual disability 15|mental retardation, X-linked, with short stature|mental retardation, X-linked, syndromic, Cabezas type|X-linked intellectual disability with short stature, hypogonadism, and abnormal gait|Cul4B-related X-linked intellectual disability|intellectual disability, X-linked, syndromic 15 (Cabezas type)|Cabezas syndrome|MRSS|Cabezas syndrome; syndromic X-linked mental retardation 15|MRXSC|syndromic X-linked intellectual disability Cabezas type|Cabezas type of X-linked syndromic intellectual disability|X-linked mental retardation with short stature|X-linked intellectual disability, Cabezas type|intellectual disability, X-linked, syndromic, Cabezas type|intellectual disability, X-linked, syndromic 15|X-linked intellectual disability with short stature|mental retardation, X-linked, with short stature, hypogonadism, and abnormal Gait|mental retardation, X-linked, syndromic 15|intellectual disability, X-linked, with short stature, hypogonadism, and abnormal Gait|intellectual disability, X-linked, with short stature|mental retardation, X-linked, syndromic 15 (Cabezas type)|X-linked mental retardation with short stature, hypogonadism, and abnormal gait OMIM:300354|SCTID:719811001|UMLS:C1845861|UMLS:C1845845|Orphanet:85293|DOID:0060822|GARD:0013244|ICD10:Q87.8 OMIM obsoleted 300360 and moved this to 300354 so I merged these - smb. owl:Class HGNC:2555 biolink:NamedThing CUL4B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013976 biolink:NamedThing ectodermal dysplasia 9, hair/nail type Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the HOXC13 gene. tmpaxzxjjyw_mondo_relaxed.owl HOXC13 pure hair and nail ectodermal dysplasia|ECTD9|pure hair and nail ectodermal dysplasia caused by mutation in HOXC13|ectodermal dysplasia 9, hair/nail type Orphanet:69084|OMIM:614931|DOID:0111656|UMLS:C3554127 owl:Class HGNC:5125 biolink:NamedThing HOXC13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008477 biolink:NamedThing spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly. tmpaxzxjjyw_mondo_relaxed.owl Jequier-Kozlowski syndrome|Jequier Kozlowski skeletal dysplasia|skeletal dysplasia Jequier-Kozlowski type|SMDK|SmD Kozlowski type|Dysmorphism arthrogryposis skeletal maturation advanced|spondylometaphyseal dysplasia, Kozlowski type|SmD, Kozlowski type MESH:C535797|GARD:0003047|OMIM:184252|ICD10:Q77.8|Orphanet:93314|DOID:0111554 https://rarediseases.info.nih.gov/diseases/3047/spondylometaphyseal-dysplasia-kozlowski-type owl:Class MONDO:0008259 biolink:NamedThing familial spontaneous pneumothorax Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated. tmpaxzxjjyw_mondo_relaxed.owl pneumothorax, primary spontaneous|primary spontaneous pneumothorax|Psp|spontaneous pneumothorax UMLS:C1868193|SCTID:715219001|ICD10:J93.1|GARD:0004997|Orphanet:2903|OMIM:173600|DOID:0080218|MESH:C566795|UMLS:C4275252 owl:Class NCBITaxon:1280 biolink:NamedThing Staphylococcus aureus tmpaxzxjjyw_mondo_relaxed.owl Staphylococcus aureus subsp. anaerobius|Micrococcus pyogenes|Staphylococcus pyogenes aureus|Staphlococcus pyogenes citreus|Micrococcus aureus PMID:31023808|PMID:8573498|GC_ID:11 NCBITaxon:72759|NCBITaxon:46170|NCBITaxon:325213 ncbi_taxonomy owl:Class ECTO:9001712 biolink:NamedThing exposure to antiparasitic agent An exposure to antiparasitic agent. tmpaxzxjjyw_mondo_relaxed.owl exposure to antiparasitic agent owl:Class CHEBI:35442 biolink:NamedThing antiparasitic agent A substance used to treat or prevent parasitic infections. tmpaxzxjjyw_mondo_relaxed.owl parasiticides|antiparasitics|antiparasitic drugs owl:Class MONDO:0010797 biolink:NamedThing Pearson syndrome Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction. tmpaxzxjjyw_mondo_relaxed.owl sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)|Pearson's syndrome|Pearson's marrow/pancreas syndrome|Pearson marrow-pancreas syndrome|sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction Orphanet:699|ICD9:277.87|NCIT:C115326|UMLS:C0342784|SCTID:237985009|DOID:0060067|GARD:0007343|OMIM:557000|ICD10:D64.0|MedDRA:10062941 https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome owl:Class HP:0001924 biolink:NamedThing Sideroblastic anemia Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). tmpaxzxjjyw_mondo_relaxed.owl Sideroblastic anaemia|Hypersideremic anaemia|Hypersideremic anemia SNOMEDCT_US:41841004|UMLS:C0002896|MSH:D000756 Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low. HP:0100791 human_phenotype owl:Class HsapDv:0000118 biolink:NamedThing 24-year-old human stage Young adult stage that refers to an adult who is over 24 and under 25. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036264 biolink:NamedThing zygomaticotemporal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014566 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2U Autosomal dominant Charcot-Marie-Tooth disease type 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant axonal Charcot-Marie-Tooth disease type 2U|autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation|Charcot-Marie-Tooth neuropathy type 2U|autosomal dominant Charcot-Marie-Tooth disease type 2U|MARS Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U|Charcot-Marie-Tooth disease type 2 caused by mutation in MARS|Charcot-Marie-Tooth disease, axonal, type 2U|CMT2U|Charcot-Marie-Tooth neuropathy, type 2U Orphanet:397735|UMLS:C4084821|OMIM:616280|SCTID:765046002|ICD10:G60.0|DOID:0110173 owl:Class HGNC:6898 biolink:NamedThing MARS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009500 biolink:NamedThing periotic mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:10368 biolink:NamedThing Human betaherpesvirus 6 tmpaxzxjjyw_mondo_relaxed.owl Human herpesvirus type 6|herpesvirus 6 HHV-6|Herpesvirus type 6|Human herpesvirus 6|herpes simplex virus type 6|HHV-6|human herpesvirus 6 HHV-6|HHV6|human herpesvirus type 6 HHV-6 GC_ID:1 NCBITaxon:41670 ncbi_taxonomy owl:Class MONDO:0012353 biolink:NamedThing erythrocytosis, familial, 3 Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene. tmpaxzxjjyw_mondo_relaxed.owl ECYT3|familial polycythemia caused by mutation in EGLN1|EGLN1 familial polycythemia|erythrocytosis, familial, 3|erythrocytosis, familial, type 3 MESH:C565221|DOID:0080338|OMIM:609820|UMLS:C1853286|Orphanet:247511 owl:Class MONDO:0019865 biolink:NamedThing mosaic trisomy 4 Mosaic Trisomy 4 is a rare autosomal anomaly, due to the presence of an extra copy of chromosome 4 in a fraction of all cells, with a variable phenotype characterized by intrauterine growth retardation, low birth weight/length/OFC, mild intellectual deficit, congenital heart defects, hypertrophic cardiomyopathy, dysmorphic features (asymmetry of the face, eyebrow anomalies, low-set, posteriorally rotated, dysplastic ears, micro-/retrognathia), characteristic thumb abnormalities (aplasia, hypoplasia) and skin abnormalities (hypo/hyperpigmentation). Delayed puberty may be associated. tmpaxzxjjyw_mondo_relaxed.owl trisomy 4 mosaicism|Mosaic trisomy chromosome 4|Mosaic trisomy type 4 Orphanet:96059|ICD10:Q92.1|SCTID:764628000 owl:Class OBO:CHR_9606-chr4 biolink:NamedThing chromosome 4 (Human) tmpaxzxjjyw_mondo_relaxed.owl 4 190214555 0 hg38 owl:Class UBERON:0011925 biolink:NamedThing preganglionic autonomic fiber tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001382 biolink:NamedThing hepatorenal syndrome Hepatorenal syndrome is a form of impaired kidney function that occurs in individuals with advanced chronic liver disease. As many as 40% of individuals with cirrhosis and ascites will develop hepatorenal syndrome. Symptoms may include fatigue, abdominal pain, and a general feeling of ill health (malaise). There are two distinct types of hepatorenal syndrome. Type I progresses quickly (within days), leading to kidney failure. Individuals with type I typically have dramatically reduced urine output, edema, and jaundice, and often suffer from hepatic encephalopathy. Type II progresses more slowly, over weeks or months, and the symptoms are less severe. The cause of hepatorenal syndrome is unknown. A contributing factor seems to be a narrowing of the blood vessels that connect into the kidneys. This causes a decrease in blood flow to the kidneys, impairing their function. In some cases, triggers or precipitating factors (infections, blood loss from the gastrointestinal tract, low blood pressure) are involved. Treatment is aimed at helping the liver work better and maintaining kidney function. In many cases, a liver transplant is needed. In some cases, individuals also need a kidney transplant. tmpaxzxjjyw_mondo_relaxed.owl hepato-renal syndrome NCIT:C113400|ICD9:572.4|UMLS:C0019212|SCTID:51292008|ICD10:K76.7|GARD:0006610|DOID:11823|MESH:D006530 https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome owl:Class GO:0002717 biolink:NamedThing positive regulation of natural killer cell mediated immunity Any process that activates or increases the frequency, rate, or extent of natural killer cell mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of natural killer cell mediated immunity|positive regulation of NK cell mediated immunity|activation of natural killer cell mediated immunity|up regulation of natural killer cell mediated immunity|stimulation of natural killer cell mediated immunity|upregulation of natural killer cell mediated immunity|positive regulation of NK cell activity|positive regulation of natural killer cell activity owl:Class GO:0002228 biolink:NamedThing natural killer cell mediated immunity The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines. tmpaxzxjjyw_mondo_relaxed.owl NK cell mediated immunity owl:Class GO:0002433 biolink:NamedThing immune response-regulating cell surface receptor signaling pathway involved in phagocytosis An immune response-regulating cell surface receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes. tmpaxzxjjyw_mondo_relaxed.owl phagocytosis triggered by activation of immune response cell surface activating receptor|immune response-regulating cell surface receptor signalling pathway involved in phagocytosis owl:Class UBERON:0001212 biolink:NamedThing duodenal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1912 biolink:NamedThing CHAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020959 biolink:NamedThing Mansonella ozzardi infection An infection that is caused by the organism Mansonella ozzardi. tmpaxzxjjyw_mondo_relaxed.owl filariasis ozzardi|Filariasis ozzardi|Ozzardian filariasis|mansonella ozzardi infection ICD9:125.5|SCTID:30865009|UMLS:C0016089|NCIT:C34612 owl:Class NCBITaxon:122354 biolink:NamedThing Mansonella ozzardi tmpaxzxjjyw_mondo_relaxed.owl Mansonella (Mansonella) ozzardi GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100126 biolink:NamedThing P5CS deficiency An inborn error of proline/orinthine metabolism that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene. These variants lead to a variety of neurocutaneous and motor syndromes characterized by cutis laxa, connective tissue weakness, facial dysmorphism, growth restriction, developmental delay, cataracts, hypotonia, hypertonia, and amyotrophy. tmpaxzxjjyw_mondo_relaxed.owl P5CS deficiency|delta1-pyrroline-5-carboxylate synthetase deficiency http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0007606 biolink:NamedThing ciliated stratified columnar epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007556 biolink:NamedThing epidermolysis bullosa simplex with mottled pigmentation Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering with mottled or reticulate brown pigmentation. tmpaxzxjjyw_mondo_relaxed.owl speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering|EBSMP|epidermolysis bullosa simplex with mottled pigmentation|EBS-MP|speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering|EBS with mottled pigmentation MESH:C535959|Orphanet:79397|ICD9:757.39|GARD:0009737|OMIM:131960|SCTID:254180002|ICD10:Q81.0|DOID:0111346 https://rarediseases.info.nih.gov/diseases/9737/epidermolysis-bullosa-simplex-with-mottled-pigmentation owl:Class HP:0000726 biolink:NamedThing Dementia A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. tmpaxzxjjyw_mondo_relaxed.owl Dementia, progressive|Dementia|Progressive dementia MSH:D003704|UMLS:C0497327|SNOMEDCT_US:52448006 HP:0007122|HP:0007150|HP:0002274|HP:0007283 human_phenotype owl:Class MONDO:0020278 biolink:NamedThing metabolic disease associated with ocular features tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN207081|Orphanet:98710 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0014899 biolink:NamedThing adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism. tmpaxzxjjyw_mondo_relaxed.owl progressive external ophthalmoplegia, autosomal recessive 4|PEOB4|adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 Orphanet:329314|UMLS:C4310733|DOID:0111516|OMIM:617070|ICD10:G71.3|SCTID:733599009 owl:Class GO:1903489 biolink:NamedThing positive regulation of lactation Any process that activates or increases the frequency, rate or extent of lactation. tmpaxzxjjyw_mondo_relaxed.owl activation of lactation|up-regulation of lactation|up regulation of lactation|upregulation of lactation owl:Class MONDO:0005252 biolink:NamedThing heart failure Inability of the heart to pump blood at an adequate rate to meet tissue metabolic requirements. Clinical symptoms of heart failure include: unusual dyspnea on light exertion, recurrent dyspnea occurring in the supine position, fluid retention or rales, jugular venous distension, pulmonary edema on physical exam, or pulmonary edema on chest x-ray presumed to be cardiac dysfunction. tmpaxzxjjyw_mondo_relaxed.owl insufficiency, Cardiac|cardiac failure|cardiac insufficiency|failure, heart|heart failure EFO:0003144|UMLS:CN236639|ICD9:428.9|SCTID:84114007|MESH:D006333|ICD9:428|NCIT:C50577 owl:Class HGNC:14258 biolink:NamedThing CD2AP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001168 biolink:NamedThing spastic hemiplegia A type of spastic cerebral palsy characterized by increased muscle tone of the arm and leg on the same side of the body. tmpaxzxjjyw_mondo_relaxed.owl hemiplegic infantile cerebral palsy|spastic hemiplegic cerebral palsy|hemiplegic cerebral palsy|congenital hemiplegia UMLS:C0270805|ICD9:342.10|NCIT:C116905|ICD9:343.1|SCTID:79633009|DOID:10967 owl:Class MONDO:0001170 biolink:NamedThing hemiplegia Severe or complete loss of motor function on one side of the body. This condition is usually caused by brain diseases that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, brain stem lesions; cervical spinal cord diseases; peripheral nervous system diseases; and other conditions may manifest as hemiplegia. The term hemiparesis (see paresis) refers to mild to moderate weakness involving one side of the body. tmpaxzxjjyw_mondo_relaxed.owl infantile hemiplegia|postnatal infantile hemiplegia GARD:0006583|ICD9:343.4|MESH:D006429|DOID:10969|SCTID:1593000 https://rarediseases.info.nih.gov/diseases/6583/hemiplegia owl:Class UBERON:0001848 biolink:NamedThing auricular cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001867 biolink:NamedThing cartilage of external ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4026 biolink:NamedThing FXYD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013590 biolink:NamedThing Stickler syndrome, type 4 Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene. tmpaxzxjjyw_mondo_relaxed.owl COL9A1 autosomal recessive Stickler syndrome|autosomal recessive Stickler syndrome caused by mutation in COL9A1|STL4|STICKLER syndrome, type IV Orphanet:250984|OMIM:614134|Orphanet:828 owl:Class MONDO:0014924 biolink:NamedThing epilepsy, familial focal, with variable foci 2 Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene. tmpaxzxjjyw_mondo_relaxed.owl epilepsy, familial focal, with variable foci type 2|FFEVF2|epilepsy, familial focal, with variable foci 2; FFEVF2|epilepsy, familial focal, with variable foci caused by mutation in NPRL2|NPRL2 epilepsy, familial focal, with variable foci|epilepsy, familial focal, with variable foci 2 UMLS:C4310709|OMIM:617116 owl:Class HGNC:24969 biolink:NamedThing NPRL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015145 biolink:NamedThing pes hair tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013732 biolink:NamedThing glucocorticoid therapy, response to tmpaxzxjjyw_mondo_relaxed.owl glucocorticoid therapy, response to|GCTR OMIM:614400 owl:Class HGNC:18713 biolink:NamedThing GLCCI1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034971 biolink:NamedThing aortic body tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000171 biolink:NamedThing pancreatic A cell A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon. tmpaxzxjjyw_mondo_relaxed.owl pancreatic alpha cell|alpha cell of islet of Langerhans BTO:0000990|FMA:70585 cell owl:Class CL:0002351 biolink:NamedThing progenitor cell of endocrine pancreas A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1. tmpaxzxjjyw_mondo_relaxed.owl pancreatic islet progenitor cell|pancreatic endocrine progenitor tmeehan 2010-09-21T04:41:06Z cell owl:Class HGNC:11257 biolink:NamedThing SPR tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005463 biolink:NamedThing subcapsular sinus of lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012141 biolink:NamedThing manual digitopodium region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012039 biolink:NamedThing myocardial infarction, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl myocardial infarction, protection against|myocardial infarction, susceptibility to|myocardial infarction, susceptibility to, 1|susceptibility to myocardial infarction OMIM:608446 owl:Class MONDO:0004974 biolink:NamedThing adrenal gland pheochromocytoma A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present. tmpaxzxjjyw_mondo_relaxed.owl adrenal gland paraganglioma|adrenal gland pheochromocytoma|Intraadrenal paraganglioma|adrenal medullary pheochromocytoma|pheochromocytoma|adrenal pheochromocytoma|pheochromocytoma (adrenal)|PCC|adrenal medullary paraganglioma|chromaffin paraganglioma of the adrenal gland|adrenal gland chromaffin paraganglioma|adrenal gland Chromaffinoma OMIM:171300|EFO:0000239|DOID:0050892|NCIT:C3326|ICDO:8700/0 owl:Class MONDO:0014823 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies 3 A rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features. tmpaxzxjjyw_mondo_relaxed.owl hypotonia, infantile, with psychomotor retardation and characteristic facies 3|TBCK-related intellectual disability syndrome|IHPRF3|hypotonia, infantile, with psychomotor retardation and characteristic facies type 3 Orphanet:488632|OMIM:616900|UMLS:C4225161 owl:Class HGNC:28261 biolink:NamedThing TBCK tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr17p13.3 biolink:NamedThing 17p13.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 3400000 0 hg38 owl:Class MONDO:0019875 biolink:NamedThing Beckwith-Wiedemann syndrome due to 11p15 microduplication tmpaxzxjjyw_mondo_relaxed.owl Orphanet:96076|ICD10:Q87.3|UMLS:CN206810 owl:Class UBERON:0004936 biolink:NamedThing submucosa of pyloric antrum tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003351 biolink:NamedThing Decreased circulating renin level An decreased level of renin in the blood. tmpaxzxjjyw_mondo_relaxed.owl Decreased plasma renin activity|Suppressed plasma renin activity|Low plasma renin activity UMLS:C1845206 HP:0003263 human_phenotype owl:Class MONDO:0020138 biolink:NamedThing ataxia with dementia tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98538 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: HP:0001251 Ataxia HP_0001251 owl:Class UBERON:0006946 biolink:NamedThing efferent duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005967 biolink:NamedThing mitochondrial pyruvate dehydrogenase complex Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA in eukaryotes; includes subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). The This Eukaryotic form usually contains more subunits than its bacterial counterpart; for example, one known complex contains 30 E1 dimers, 60 E2 monomers, and 6 E3 dimers as well as a few copies of pyruvate dehydrogenase kinase and pyruvate dehydrogenase phosphatase. tmpaxzxjjyw_mondo_relaxed.owl pyruvate dehydrogenase complex (lipoamide) owl:Class GO:0005759 biolink:NamedThing mitochondrial matrix The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial lumen|mitochondrial stroma owl:Class MONDO:0011875 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 11 An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene. tmpaxzxjjyw_mondo_relaxed.owl epilepsy, juvenile absence, susceptibility to, 2|CLCN2 generalised epilepsy|epilepsy, idiopathic generalized, susceptibility to, type 11|EIG11|generalised epilepsy caused by mutation in CLCN2|epilepsy, idiopathic generalized, susceptibility to, 11|susceptibility to idiopathic generalized epilepsy 11|epilepsy, juvenile myoclonic, susceptibility to, 8 DOID:0111312|OMIM:607628|Orphanet:307 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class HGNC:2020 biolink:NamedThing CLCN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:26648 biolink:NamedThing BBS12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002230 biolink:NamedThing ovarian Wilms tumor An embryonal neoplasm arising from the ovary with morphologic features resembling Wilms tumor of the kidney. It occurs during the reproductive age and may present as a rapidly growing adnexal mass. tmpaxzxjjyw_mondo_relaxed.owl ovarian Wilms' cancer|ovarian Wilms' tumor|ovarian Wilms tumor|ovary Wilms tumor NCIT:C40443|UMLS:C1518746|DOID:2153 owl:Class UBERON:0035201 biolink:NamedThing gastrocolic ligament tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005418 biolink:NamedThing hindlimb bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014278 biolink:NamedThing immunodeficiency 18 Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency type 18|immunodeficiency 18, SCID variant|CD3-Epsilon deficiency|immunodeficiency 18|immunodeficiency 18, Severe combined immunodeficiency variant|IMD18 UMLS:C3810127|Orphanet:169160|OMIM:615615|DOID:0060017 owl:Class HGNC:1674 biolink:NamedThing CD3E tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001196 biolink:NamedThing middle colic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001157 biolink:NamedThing transverse colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004427 biolink:NamedThing supraglottis neoplasm A benign or malignant neoplasm that affects the supraglottic area of the larynx. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of supraglottis|supraglottic part of larynx neoplasm (disease)|supraglottic tumor|tumor of supraglottis|neoplasm of supraglottic part of larynx|supraglottic part of larynx neoplasm|supraglottis tumor|tumor of supraglottic part of larynx|supraglottic part of larynx tumor|tumor of the supraglottis|supraglottic neoplasm|neoplasm of the supraglottis|supraglottis neoplasm NCIT:C6793|SCTID:126697005|DOID:8002|UMLS:C0345726 owl:Class UBERON:0036263 biolink:NamedThing supraglottic part of larynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013235 biolink:NamedThing ventrum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0037872 biolink:NamedThing bordetellosis Any disease caused by infection with organisms of the genus Bordetella. tmpaxzxjjyw_mondo_relaxed.owl Bordetella infection|Bordetella Infections|Bordetella disease or disorder|Bordetella Infection|INFECT BORDETELLA|Bordetellosis|bordetellosis|Bordetella caused disease or disorder|Infection, Bordetella|Bordetella infectious disease|Infections, Bordetella ICD9:041.85|UMLS:C0006015|MESH:D001885|EFO:1001275|SCTID:26484003 B. bronchiseptica infects a wide range of mammals (including humans), whereas B. pertussis infects only humans and, under experimental conditions, mice and pigs. In contrast, B. parapertussis, also a causative agent of pertussis, displays a unique host specificity with 2 subgroups, one infecting only humans and the other infecting only sheep. MONDO:0020758 owl:Class NCBITaxon:517 biolink:NamedThing Bordetella tmpaxzxjjyw_mondo_relaxed.owl PMID:11491321|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0012720 biolink:NamedThing Krabbe disease, atypical, due to saposin A deficiency tmpaxzxjjyw_mondo_relaxed.owl saposin A deficiency|Krabbe disease, atypical, due to saposin A deficiency|Krabbe disease, atypical due to saposin A deficiency GARD:0010289|MESH:C567097|Orphanet:487|OMIM:611722|UMLS:C2673266 https://rarediseases.info.nih.gov/diseases/10289/krabbe-disease-atypical-due-to-saposin-a-deficiency owl:Class HGNC:9498 biolink:NamedThing PSAP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011816 biolink:NamedThing lathosterolosis Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. tmpaxzxjjyw_mondo_relaxed.owl sterol C5-desaturase deficiency|Sc5D deficiency|lathosterolosis OMIM:607330|ICD10:Q87.8|Orphanet:46059|UMLS:C1846421|SCTID:719257008|GARD:0009711|MESH:C537880 https://rarediseases.info.nih.gov/diseases/9711/lathosterolosis owl:Class GO:0033490 biolink:NamedThing cholesterol biosynthetic process via lathosterol The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, via the intermediate lathosterol. tmpaxzxjjyw_mondo_relaxed.owl cholesterol anabolism via lathosterol|cholesterol formation via lathosterol|cholesterol synthesis via lathosterol|cholesterol biosynthesis via lathosterol owl:Class MONDO:0015647 biolink:NamedThing thinking seizures Thinking seizures is a rare neurologic disease characterized by seizures induced by specific cognitive tasks, such as calculation or solving arithmetic problems (e.g Sudoku puzzle), playing thinking games (e.g. Rubik's cube, chess, cards), thinking, making decisions and abstract reasoning. Idiopathic generalized seizures are mainly involved, but partial epilepsies may, in rare cases, be observed. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:166424|UMLS:CN200057|ICD10:G40.8|SCTID:763622006 owl:Class OBO:MF_0000013 biolink:NamedThing thinking a mental process that involves the manipulation of mental language and/or mental images tmpaxzxjjyw_mondo_relaxed.owl act of thinking owl:Class MONDO:0013734 biolink:NamedThing microphthalmia, syndromic 11 Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene. tmpaxzxjjyw_mondo_relaxed.owl syndromic microphthalmia caused by mutation in VAX1|VAX1 syndromic microphthalmia|microphthalmia, syndromic type 11|microphthalmia, syndromic 11|MCOPS11 UMLS:C3553077|OMIM:614402 owl:Class HGNC:12660 biolink:NamedThing VAX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007665 biolink:NamedThing glaucoma 1, open angle, E A form of glaucoma in which there is no visible abnormality in the trabecular meshwork. tmpaxzxjjyw_mondo_relaxed.owl chronic simple glaucoma|glaucoma 1, open angle, E|glaucoma, primary open angle, adult-onset ICD10:H40.11|MESH:C562750|NCIT:C35394|OMIM:137760|ICD10:H40.1|DOID:1070|SCTID:77075001|ICD9:365.11 https://github.com/monarch-initiative/mondo/issues/2507 owl:Class HGNC:17142 biolink:NamedThing OPTN tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000958 biolink:NamedThing medulla of organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019098 biolink:NamedThing reproductive behavior The specific behavior of an organism that is associated with reproduction. tmpaxzxjjyw_mondo_relaxed.owl reproductive behaviour|single-organism reproductive behavior|multi-organism reproductive behavior|multicellular organism reproductive behavior|reproductive behavior in a multicellular organism owl:Class GO:0000003 biolink:NamedThing reproduction The production of new individuals that contain some portion of genetic material inherited from one or more parent organisms. tmpaxzxjjyw_mondo_relaxed.owl reproductive physiological process owl:Class OBO:CHR_9606-chr5q35 biolink:NamedThing 5q35 (Human) tmpaxzxjjyw_mondo_relaxed.owl 181538259 169000000 hg38 owl:Class UBERON:0006592 biolink:NamedThing transformed vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013993 biolink:NamedThing pontocerebellar hypoplasia type 7 Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype. tmpaxzxjjyw_mondo_relaxed.owl pontocerebellar hypoplasia-46,XY disorder of sex development syndrome|non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1|TOE1 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 7|PCH7 Orphanet:284339|UMLS:C3554226|ICD10:Q04.3|SCTID:718605009|DOID:0060276|OMIM:614969 owl:Class UBERON:0016612 biolink:NamedThing auditory hillocks, pharyngeal arch 2 derived tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005602 biolink:NamedThing ovarian teratoma A non-seminomatous germ cell tumor arising from the ovary. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). According to the level of differentiation of the tissues which comprise the tumor, ovarian teratomas are classified as mature or immature. Mature teratomas are composed of well differentiated, adult-type tissues. Immature teratomas are composed of immature, fetal type-tissues. Mature ovarian teratomas without a fetal-type component have an excellent outcome. The prognosis of immature ovarian teratomas is related to the grade and stage of the tumor. tmpaxzxjjyw_mondo_relaxed.owl teratoma of ovary|ovarian germ cell teratoma|germ cell teratoma of the ovary|teratoma of the ovary|germ cell teratoma of ovary|ovarian teratoma EFO:0006463|SCTID:716077006|UMLS:C0280131|NCIT:C8110|DOID:5567 owl:Class UBERON:0001213 biolink:NamedThing intestinal villus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011781 biolink:NamedThing spinocerebellar ataxia type 17 A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia type 17|OPCA with dementia and extrapyramidal signs|HDL4|olivopontocerebellar atrophy type 5|OPCA V|spinocerebellar ataxia 17|olivopontocerebellar atrophy 5|SCA 17|SCA17|Huntington disease-like 4|olivopontocerebellar atrophy V SCTID:719249005|UMLS:C1833995|OMIM:607136|OMIM:164700|MESH:C563505|ICD10:G11.8|Orphanet:98759|MESH:C564616|DOID:0050967|UMLS:C1846707|GARD:0010469 owl:Class HGNC:11588 biolink:NamedThing TBP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015060 biolink:NamedThing mosaic trisomy 3 Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Mosaic trisomy chromosome 3|trisomy 3 mosaicism|Mosaic trisomy type 3 GARD:0005342|ICD10:Q92.1|Orphanet:100071|UMLS:CN073992|SCTID:764627005 owl:Class GO:0033119 biolink:NamedThing negative regulation of RNA splicing Any process that stops, prevents, or reduces the frequency, rate or extent of RNA splicing. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035480 biolink:NamedThing surface of prostate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011090 biolink:NamedThing skeleton of right pelvic girdle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011092 biolink:NamedThing right pelvic girdle region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003461 biolink:NamedThing shoulder bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016884 biolink:NamedThing shoulder joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010483 biolink:NamedThing X-linked intellectual disability, Cantagrel type X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked type 98|mental retardation, X-linked 98|MRX98|mental retardation, X-linked type 98|intellectual disability, X-linked 98 SCTID:719016007|Orphanet:85277|ICD10:Q87.8|UMLS:C3806730|OMIM:300912 owl:Class HGNC:29433 biolink:NamedThing NEXMIF tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:8410000 biolink:NamedThing duodeno-jejunal junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007930 biolink:NamedThing Bernard-Soulier syndrome, type A2, autosomal dominant A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p. tmpaxzxjjyw_mondo_relaxed.owl Bernard-Soulier syndrome, type A2, autosomal dominant|BSSA2|Bernard-Soulier syndrome type A2 DOID:0111059|OMIM:153670|Orphanet:274|UMLS:C3277076 MONDO:0000915 owl:Class HGNC:4439 biolink:NamedThing GP1BA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013464 biolink:NamedThing episodic ataxia type 5 Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia characterized by recurrent episodes of vertigo and ataxia lasting several hours. tmpaxzxjjyw_mondo_relaxed.owl CACNB4 hereditary episodic ataxia|episodic ataxia, type 5|EA5|hereditary episodic ataxia caused by mutation in CACNB4 UMLS:C1866039|MESH:C566601|SCTID:718756005|DOID:0050993|ICD10:G11.8|Orphanet:211067|OMIM:613855 owl:Class HGNC:1404 biolink:NamedThing CACNB4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:186 biolink:NamedThing ADA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021002 biolink:NamedThing syndactyly A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms. tmpaxzxjjyw_mondo_relaxed.owl syndactyly (disease) syndactyly (disease) UMLS:C0039075|ICD10:Q70.2|ICD9:755.1|MedDRA:10042778|ICD10:Q70.1|ICD10:Q70.4|DOID:11193|NCIT:C87125|OMIM:186200|OMIM:186300|ICD10:Q70.9|HP:0001159|ICD10:Q70.0|OMIM:185900|ICD10:Q70.3|ICD10:Q70|OMIM:186100 https://github.com/monarch-initiative/mondo/issues/4051 owl:Class MONDO:0011323 biolink:NamedThing arhinia, choanal atresia, and microphthalmia tmpaxzxjjyw_mondo_relaxed.owl Bosma arhinia microphthalmia syndrome|BAMS|BOSMA arhinia microphthalmia syndrome|arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism|arhinia, choanal atresia, and microphthalmia SCTID:720511000|Orphanet:1135|MESH:C537429|Orphanet:2250|OMIM:603457 owl:Class UBERON:0013760 biolink:NamedThing external cervical os tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043373 biolink:NamedThing sudden sensorineural hearing loss Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning. tmpaxzxjjyw_mondo_relaxed.owl sudden sensorineural hearing loss|deafness, sudden|acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma|sudden deafness|sudden hearing loss MESH:D003639|SCTID:715239002|Orphanet:90059|GARD:0012927|UMLS:C4275242 owl:Class MONDO:0100003 biolink:NamedThing susceptibility to angioedema induced by ACE inhibitors An inherited susceptibility or predisposition to developing renin-angiotensin-aldosterone system-blocker-induced angioedema. tmpaxzxjjyw_mondo_relaxed.owl OMIM:300909 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2760 owl:Class HGNC:12823 biolink:NamedThing XPNPEP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3999 biolink:NamedThing FTL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000346 biolink:NamedThing Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type tmpaxzxjjyw_mondo_relaxed.owl Balkan hemorrhagic fever DOID:0050522 owl:Class NCBITaxon:54292 biolink:NamedThing Apodemus flavicollis tmpaxzxjjyw_mondo_relaxed.owl Sylvaemus flavicollis|Yellow-necked field mouse GC_ID:1 ncbi_taxonomy owl:Class HGNC:3192 biolink:NamedThing EEF1A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011762 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 22 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in OTOA|OTOA autosomal recessive nonsyndromic deafness|DFNB22|autosomal recessive nonsyndromic deafness 22|deafness, autosomal recessive 22|deafness, autosomal recessive type 22|autosomal recessive nonsyndromic deafness type 22|autosomal recessive deafness 22 ICD10:H90.3|DOID:0110480|OMIM:607039|MESH:C564633|UMLS:C1846896 owl:Class HGNC:16378 biolink:NamedThing OTOA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016287 biolink:NamedThing adenoid basal carcinoma of the cervix uteri A skin adenoid basal cell carcinoma that involves the uterine cervix. tmpaxzxjjyw_mondo_relaxed.owl skin adenoid basal cell carcinoma of uterine cervix|uterine cervix skin adenoid basal cell carcinoma|cervical adenoid basal carcinoma UMLS:CN201077|ICD10:C53.1|ICD10:C53.8|ICD10:C53.0|Orphanet:213828 owl:Class UBERON:0004391 biolink:NamedThing epiphysis of first metacarpal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003083 biolink:NamedThing trunk neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010743 biolink:NamedThing meningeal cluster tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20q13 biolink:NamedThing 20q13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 64444167 43100000 hg38 owl:Class OBO:CHR_9606-chr20q1 biolink:NamedThing 20q1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 64444167 28100000 hg38 owl:Class MONDO:0009783 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene. tmpaxzxjjyw_mondo_relaxed.owl POLG autosomal recessive progressive external ophthalmoplegia|progressive external ophthalmoplegia with cerebellar ataxia infantile|cerebellar ataxia infantile with progressive external ophthalmoplegia|autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1|arPEO|autosomal recessive progressive external ophthalmoplegia|progressive external ophthalmoplegia, autosomal recessive 1|PEOB1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1 GARD:0001191|Orphanet:254886|UMLS:C4225153|DOID:0111522|OMIM:258450 https://rarediseases.info.nih.gov/diseases/1191/progressive-external-ophthalmoplegia-autosomal-recessive-1 owl:Class MONDO:0018093 biolink:NamedThing arbovirus fever Arbovirosis are polymorphic diseases caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed. tmpaxzxjjyw_mondo_relaxed.owl arbovirus fever|Arbovirosis UMLS:CN227261|Orphanet:344|GARD:0000432 https://rarediseases.info.nih.gov/diseases/432/arbovirosis owl:Class MONDO:0009653 biolink:NamedThing mucolipidosis type IV A lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus. tmpaxzxjjyw_mondo_relaxed.owl ML4|ganglioside neuraminidase deficiency|mucolipidosis type 4|sialolipidosis|mucolipidosis type IV|Berman syndrome|mucolipidosis 4|ML IV|ganglioside sialidase deficiency|mucolipidosis IV|ML 4|MLIV GTR:AN1125033|UMLS:CN716584|SCTID:111384001|GARD:0000094|DOID:0080490|ICD10:E75.1|NCIT:C84896|UMLS:C0238286|GTR:AN1148743|GTR:AN1125032|OMIM:252650|GTR:AN1124590|Orphanet:578 owl:Class HGNC:6255 biolink:NamedThing KCNJ1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014873 biolink:NamedThing nevus comedonicus syndrome A rare developmental skin condition consisting of abnormal pilosebaceous follicle development. It is characterized by linear or band-like distributions of groups of comedones, usually on the face, neck, upper arm, chest, and abdomen, that appear at birth or in childhood. tmpaxzxjjyw_mondo_relaxed.owl Nevus comedonicus|acne Nevus|NC|comedo Nevus|pilosebaceous nevoid disorder|NEVUS comedonicus|acneiform Nevus Orphanet:64754|NCIT:C3946|ICD10:Q82.5|GARD:0013073|SCTID:35962006|OMIM:617025|UMLS:C0265987 owl:Class HGNC:18591 biolink:NamedThing NEK9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009235 biolink:NamedThing cobalamin metabolic process The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. tmpaxzxjjyw_mondo_relaxed.owl cobalamin metabolism|vitamin B12 metabolism|vitamin B12 reduction|vitamin B12 metabolic process owl:Class UBERON:0004404 biolink:NamedThing distal epiphysis of humerus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004363 biolink:NamedThing glutathione synthase activity Catalysis of the reaction: L-gamma-glutamyl-L-cysteine + ATP + glycine = ADP + glutathione + 2 H(+) + phosphate. tmpaxzxjjyw_mondo_relaxed.owl GSH synthetase activity|glutathione synthetase activity|gamma-L-glutamyl-L-cysteine:glycine ligase (ADP-forming) owl:Class GO:0006750 biolink:NamedThing glutathione biosynthetic process The chemical reactions and pathways resulting in the formation of glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins. tmpaxzxjjyw_mondo_relaxed.owl glutathione synthesis|glutathione anabolism|glutathione biosynthesis|glutathione formation owl:Class MONDO:0013724 biolink:NamedThing bacteremia, susceptibility to, 2 Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene. tmpaxzxjjyw_mondo_relaxed.owl CISH bacteremia, susceptibility|BACTS2|bacteremia, susceptibility to, type 2|bacteremia, susceptibility caused by mutation in CISH|bacteremia, susceptibility to, 2 OMIM:614383 owl:Class HGNC:1984 biolink:NamedThing CISH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010584 biolink:NamedThing dyskeratosis congenita, X-linked X-linked form of dyskeratosis congenita. tmpaxzxjjyw_mondo_relaxed.owl Hoyeraal Hreidarsson syndrome|cerebellar hypoplasia with pancytopenia|Zinsser-Cole-Engman syndrome|X-linked dyskeratosis congenita|Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia|DKCX|dyskeratosis congenita, X-linked|dyskeratosis congenita X-linked NCIT:C126352|GARD:0002007|DOID:0070025|Orphanet:3322|Orphanet:1775|OMIM:305000|SCTID:708536001|UMLS:C1846142 owl:Class CL:0002590 biolink:NamedThing smooth muscle cell of the brain vasculature A vascular associated smooth muscle cell of the brain vasculature. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T05:01:20Z cell owl:Class GO:0007417 biolink:NamedThing central nervous system development The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. tmpaxzxjjyw_mondo_relaxed.owl CNS development owl:Class MONDO:0012996 biolink:NamedThing AGAT deficiency L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy. tmpaxzxjjyw_mondo_relaxed.owl CCDS3|cerebral creatine deficiency syndrome 3|cerebral creatine deficiency syndrome type 3|creatine deficiency syndrome due to AGAT deficiency|GATM deficiency|disorder of glycine amidinotransferase activity|arginine:glycine amidinotransferase deficiency|AGAT deficiency|L-arginine:glycine amidinotransferase deficiency|glycine amidinotransferase activity disease GARD:0010323|SCTID:702440000|Orphanet:35704|DOID:0050712|ICD10:E72.8|MESH:C567192|UMLS:C2675179|OMIM:612718|ICD9:270.8 owl:Class HGNC:4175 biolink:NamedThing GATM tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001817 biolink:NamedThing lacrimal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:36908 biolink:NamedThing argon molecular entity tmpaxzxjjyw_mondo_relaxed.owl argon molecular entity|argon compounds|argon molecular entities owl:Class MONDO:0040674 biolink:NamedThing orgasm disorder tmpaxzxjjyw_mondo_relaxed.owl orgasmic dysfunction|orgasm disorder|abnormal orgasm ICD10:F52.3|SCTID:82636008 owl:Class UBERON:0010284 biolink:NamedThing lacrimal punctum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014171 biolink:NamedThing complex cortical dysplasia with other brain malformations 4 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene. tmpaxzxjjyw_mondo_relaxed.owl complex cortical dysplasia with other brain malformations caused by mutation in TUBG1|complex cortical dysplasia with other brain malformations type 4|TUBG1 complex cortical dysplasia with other brain malformations|CDCBM4|cortical dysplasia, complex, with other brain malformations 4|cortical dysplasia, Complex, with Other brain malformations type 4 DOID:0090138|UMLS:C3809420|OMIM:615412 owl:Class HGNC:12417 biolink:NamedThing TUBG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005131 biolink:NamedThing cervical carcinoma A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of cervix|cervical cancer|cancer of the uterine cervix|cervix cancer|carcinoma cervix uteri|carcinoma of the cervix uteri|uterine cervix carcinoma|cervical carcinoma|cancer of cervix|cervix uteri carcinoma|cancer of uterine cervix|carcinoma of the uterine cervix|uterine cervix cancer|cervical cancer, NOS|cancer of the cervix|carcinoma of uterine cervix|cervix carcinoma|carcinoma of cervix uteri|carcinoma of the cervix UMLS:C0302592|SCTID:285432005|NCIT:C9039|DOID:4362|OMIM:603956|DOID:2893|EFO:0001061 owl:Class MONDO:0000297 biolink:NamedThing baylisascariasis An infection that is caused by the raccoon nematode Baylisascaris procyonis, which is transmitted by the ingestion of embryonated eggs in contaminated soil; symptoms depend on larval migration sites (visceral organs, eye, or brain) provoking severe inflammatory responses. tmpaxzxjjyw_mondo_relaxed.owl raccoon roundworm infection|Baylisascaris procyonis infectious disease|Baylisascaris procyonis disease or disorder|Baylisascaris procyonis caused disease or disorder UMLS:C0162626|DOID:0050259|UMLS:C0277150|NCIT:C128397 owl:Class NCBITaxon:6259 biolink:NamedThing Baylisascaris procyonis tmpaxzxjjyw_mondo_relaxed.owl raccoon roundworm GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014180 biolink:NamedThing epidermolysis bullosa simplex due to BP230 deficiency tmpaxzxjjyw_mondo_relaxed.owl EBSB2|DST-related epidermolysis bullosa simplex|epidermolysis bullosa simplex, autosomal recessive type 2|epidermolysis bullosa simplex, autosomal recessive 2|EBS-AR BP230 UMLS:C3809470|OMIM:615425|ICD10:Q81.0|Orphanet:412181 owl:Class HGNC:1090 biolink:NamedThing DST tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:23116 biolink:NamedThing chlorine atom tmpaxzxjjyw_mondo_relaxed.owl Cl|chlorine|Chlor|cloro|chlore|17Cl|chlorum owl:Class GO:0031300 biolink:NamedThing intrinsic component of organelle membrane The component of the organelle membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpaxzxjjyw_mondo_relaxed.owl intrinsic to organelle membrane owl:Class HP:0001289 biolink:NamedThing Confusion Lack of clarity and coherence of thought, perception, understanding, or action. tmpaxzxjjyw_mondo_relaxed.owl Disorientation|Mental disorientation|Easily confused|Confusion MSH:D003221|SNOMEDCT_US:286933003|UMLS:C0009676 HP:0000731 human_phenotype owl:Class MONDO:0011797 biolink:NamedThing infantile-onset ascending hereditary spastic paralysis Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria. tmpaxzxjjyw_mondo_relaxed.owl IAHSP|spastic paralysis, infantile onset ascending|spastic paralysis, infantile-onset ascending MESH:C537217|Orphanet:293168|GARD:0004914|ICD9:343.8|UMLS:C2931441|OMIM:607225|ICD10:G12.2|SCTID:703543005 https://rarediseases.info.nih.gov/diseases/4914/infantile-onset-ascending-hereditary-spastic-paralysis owl:Class MONDO:0000336 biolink:NamedThing meningovascular neurosyphilis A tertiary neurosyphilis that results in inflammation located in arteries of the brain or located in arteries of spinal cord. The infection has symptom headache, has symptom neck stiffness, has symptom dizziness, has symptom behavioral abnormalities, has symptom poor concentration, has symptom memory loss, has symptom lassitude, has symptom insomnia, has symptom blurred vision, has symptom weakness and wasting of shoulder-girdle and arm muscles, has symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has symptom paralysis of the legs due to thrombosis of spinal arteries. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050491 owl:Class HP:0002607 biolink:NamedThing Bowel incontinence Involuntary fecal soiling in adults and children who have usually already been toilet trained. tmpaxzxjjyw_mondo_relaxed.owl Anal incontinence|Faecal incontinence|Fecal incontinence|Loss of bowel control MSH:D005242|SNOMEDCT_US:72042002|UMLS:C0015732 HP:0007147 human_phenotype owl:Class UBERON:0001471 biolink:NamedThing skin of prepuce of penis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003455 biolink:NamedThing bile duct papillary neoplasm A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the intrahepatic or extrahepatic bile ducts. tmpaxzxjjyw_mondo_relaxed.owl biliary papillomatosis|IPN|bile duct papillary epithelial neoplasm|bile duct papillomatosis|bile duct papillary neoplasm|intraductal papillary neoplasm ICDO:8503/0|DOID:5468|UMLS:C1879344|NCIT:C6881 owl:Class MONDO:0014237 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 76 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive deafness 76|deafness, autosomal recessive 76|autosomal recessive nonsyndromic deafness 76|deafness, autosomal recessive type 76|DFNB76|autosomal recessive nonsyndromic deafness type 76|SYNE4 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in SYNE4 OMIM:615540|Orphanet:90636|DOID:0110524|ICD10:H90.3|UMLS:C3147083 owl:Class HGNC:26703 biolink:NamedThing SYNE4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030221 biolink:NamedThing basophil differentiation The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. tmpaxzxjjyw_mondo_relaxed.owl basophil cell differentiation owl:Class MONDO:0024283 biolink:NamedThing Demodex folliculitis A demodicidosis that involves the hair follicle. tmpaxzxjjyw_mondo_relaxed.owl hair follicle demodicidosis SCTID:240894003|ICD9:704.8|ICD9:133.8|UMLS:C0392666 owl:Class NCBITaxon:481310 biolink:NamedThing Demodex folliculorum tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019586 biolink:NamedThing X-linked nonsyndromic hearing loss X-linked form of nonsyndromic deafness. tmpaxzxjjyw_mondo_relaxed.owl X-linked nonsyndromic genetic deafness|X-linked deafness|X-linked isolated sensorineural deafness type DFN|X-linked isolated neurosensory hearing loss type DFN|X-linked nonsyndromic deafness|X-linked non-syndromic neurosensory hearing loss type DFN|nonsyndromic genetic deafness, X-linked|X-linked isolated sensorineural hearing loss type DFN|X-linked non-syndromic sensorineural hearing loss type DFN|X-linked non-syndromic sensorineural deafness type DFN|X-linked isolated neurosensory deafness type DFN|X-linked non-syndromic neurosensory deafness type DFN|nonsyndromic deafness, X-linked OMIM:300614|Orphanet:90625|OMIM:300066|OMIM:304400|OMIM:304500|DOID:0050566|ICD10:H90.3|OMIM:300030|UMLS:CN206422|OMIM:300914 ORDO classification not correct: https://github.com/monarch-initiative/monarch-disease-ontology/issues/408 owl:Class MONDO:0001402 biolink:NamedThing vaginal cancer A primary or metastatic malignant neoplasm involving the vagina. Representative examples include carcinomas and sarcomas. tmpaxzxjjyw_mondo_relaxed.owl malignant vaginal tumor|malignant tumor of vagina|vaginal tumor|cancer of vagina|vagina cancer|malignant neoplasm of vagina|malignant vaginal neoplasm|malignant tumor of the vagina|malignant neoplasm of the vagina|vagina neoplasm|malignant vagina tumor|malignant vagina neoplasm SCTID:363445000|SCTID:126921000|NCIT:C7410|GARD:0009348|ICD10:C52|NCIT:C3437|DOID:119|MESH:D014625|ICD9:184.0 https://rarediseases.info.nih.gov/diseases/9348/vaginal-cancer owl:Class UBERON:0001836 biolink:NamedThing saliva tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007586 biolink:NamedThing digestion The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020591 biolink:NamedThing disorder of peritoneum A non-neoplastic or neoplastic disorder that affects the peritoneal cavity. Representative examples of non-neoplastic disorders include peritonitis and panniculitis. Representative examples of neoplastic disorders include adenomatoid tumor, primary peritoneal carcinoma, metastatic carcinoma to the peritoneum, and malignant mesothelioma. tmpaxzxjjyw_mondo_relaxed.owl peritoneal disorder|peritoneum disease|peritoneal disease|disease or disorder of peritoneum|disease of peritoneum|disorder of peritoneum|peritoneum disease or disorder NCIT:C26848|MESH:D010532|UMLS:C0031142|SCTID:66579008 owl:Class MONDO:0017379 biolink:NamedThing polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. tmpaxzxjjyw_mondo_relaxed.owl Lundberg syndrome|polyneuropathy intellectual disability acromicria premature menopause|polyneuropathy mental retardation acromicria premature menopause|polyneuropathy - intellectual deficit - acromicria - premature menopause GARD:0004424|Orphanet:2928|ICD10:Q87.8|UMLS:CN203094 Editor note: awaiting HPO owl:Class UBERON:0003536 biolink:NamedThing right lung alveolar duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013644 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2O Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the DYNC1H1 gene. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, type 2O|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O|Charcot-Marie-Tooth disease caused by mutation in DYNC1H1|Charcot-Marie-Tooth disease type 2O|CMT2O|DYNC1H1 Charcot-Marie-Tooth disease|autosomal dominant Charcot-Marie-Tooth disease type 2O|Charcot-Marie-Tooth neuropathy axonal type 2O|autosomal dominant axonal Charcot-Marie-Tooth disease type 2O|Charcot-Marie-Tooth neuropathy, axonal, type 2O GARD:0012434|OMIM:614228|DOID:0110175|UMLS:C3280220|ICD10:G60.0|Orphanet:284232 owl:Class CHEBI:58570 biolink:NamedThing D-tyrosine zwitterion A D-alpha-amino acid zwitterion that is D-tyrosine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl D-tyrosine|(2R)-2-ammonio-3-(4-hydroxyphenyl)propanoate owl:Class MONDO:0013140 biolink:NamedThing candidiasis, familial, 4 Any familial chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the CLEC7A gene. tmpaxzxjjyw_mondo_relaxed.owl candidiasis, familial, 4|candidiasis, familial, type 4|CLEC7A familial chronic mucocutaneous candidiasis|familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A|CANDF4|candidiasis, familial chronic mucocutaneous Orphanet:1334|OMIM:613108|UMLS:C0341024|SCTID:235073000 owl:Class HGNC:14558 biolink:NamedThing CLEC7A tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0098656 biolink:NamedThing anion transmembrane transport The process in which an anion is transported across a membrane. tmpaxzxjjyw_mondo_relaxed.owl ATP hydrolysis coupled anion transmembrane transport owl:Class MONDO:0014458 biolink:NamedThing Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene. tmpaxzxjjyw_mondo_relaxed.owl FRTS4|Fanconi syndrome caused by mutation in HNF4A|HNF4A Fanconi syndrome|FRTS4 with MODY|Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young Orphanet:93111|UMLS:C4014962|OMIM:616026 owl:Class HGNC:5024 biolink:NamedThing HNF4A tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6814 biolink:NamedThing MAGEL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035371 biolink:NamedThing retroperitoneal lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007026 biolink:NamedThing presumptive gut tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034878 biolink:NamedThing prechordal mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003068 biolink:NamedThing axial mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:29031 biolink:NamedThing Phlebotomus papatasi tmpaxzxjjyw_mondo_relaxed.owl Phlebotomus (Phlebotomus) papatasi|Phlebotomus papatasii GC_ID:1 ncbi_taxonomy owl:Class UBERON:0000159 biolink:NamedThing anal canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022932 biolink:NamedThing Davenport-Donlan syndrome An n-of-1 disease characterized by hearing loss, almost white hair, a psoriasiform rash with hyperkaratotic papillomata, muscle contractures, and depressed granulocyte and monocyte chemotaxis, dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and muscle contractures, and depressed granulocyte and monocyte chemotaxis. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl Davenport Donlan syndrome|dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis Orphanet:3215|GARD:0001672|UMLS:C2931076|MESH:C535988 Editor note: this is obsoleted in ORDO but not Orphanet. Orphanet, UMLS, GARD and MESH all have entries for this but with little metadata. The origin seems to be a 1979 publication describing a single family - PMID:526579 https://rarediseases.info.nih.gov/diseases/1672/davenport-donlan-syndrome owl:Class HGNC:6118 biolink:NamedThing IRF3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014828 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 3 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency-centromeric instability-Facial anomalies syndrome 3|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7|immunodeficiency-centromeric instability-Facial anomalies syndrome type 3|immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3|CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome type 3|ICF syndrome 3|ICF3 ICD10:D84.8|OMIM:616910|DOID:0090010|UMLS:C4310799 owl:Class UBERON:0004410 biolink:NamedThing distal epiphysis of fibula tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002432 biolink:NamedThing malignant neoplasm of acoustic nerve A malignant neoplasm involving the vestibulocochlear nerve. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the vestibulocochlear nerve|malignant tumour of acoustic vestibular nerve|malignant tumor of vestibulocochlear nerve|malignant tumor of the vestibulocochlear nerve|malignant acoustic nerve neoplasm|malignant neoplasm of the eighth cranial nerve|malignant neoplasm of the acoustic nerve|malignant vestibulocochlear nerve tumor|malignant neoplasm of eighth cranial nerve|malignant tumor of acoustic vestibular nerve|malignant vestibulocochlear nerve neoplasm|malignant tumor of the acoustic nerve|vestibulocochlear nerve cancer|malignant eighth cranial nerve neoplasm|malignant tumor of the eighth cranial nerve|malignant neoplasm of vestibulocochlear nerve|cancer of vestibulocochlear nerve|malignant acoustic nerve tumor|cancer of the vestibulocochlear nerve|malignant eighth cranial nerve tumor|malignant tumor of acoustic nerve|malignant tumor of eighth cranial nerve ICD10:C72.4|SCTID:254980001|UMLS:C0346331|DOID:2814|NCIT:C4539 owl:Class HGNC:3354 biolink:NamedThing ENO3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013749 biolink:NamedThing metaphysis of humerus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012637 biolink:NamedThing COG1-CDG COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl COG1-CDG (CDG-IIg)|CDG-IIg|COG1-CDG|congenital disorder of glycosylation type IIg|CDG syndrome type IIg|congenital disorder of glycosylation type 2g|CDG2G|carbohydrate deficient glycoprotein syndrome type IIg|Cdgii/Cog1 Cerebrocostomandibular-like syndrome|CDG 2G|congenital disorder of glycosylation, type IIg|CDG IIg MESH:C535756|DOID:0070259|ICD10:E77.8|Orphanet:263508|GARD:0010226|SCTID:718750004|OMIM:611209 owl:Class HGNC:6545 biolink:NamedThing COG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004549 biolink:NamedThing cork-handlers' disease An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. tmpaxzxjjyw_mondo_relaxed.owl cork-handlers' lung|Suberosis|cork-handlers' disease or lung|cork workers lung|cork worker's lung ICD10:J67.3|UMLS:C0152108|DOID:840|ICD9:495.3|SCTID:13394002 owl:Class HP:0002094 biolink:NamedThing Dyspnea Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. tmpaxzxjjyw_mondo_relaxed.owl Difficult to breathe|Shortness of breath|Difficulty breathing|Dyspnoea|Trouble breathing|Panting|Breathing difficulty|Abnormal breathing UMLS:C0013404|MSH:D004417|SNOMEDCT_US:267036007|SNOMEDCT_US:230145002 human_phenotype owl:Class GO:0032984 biolink:NamedThing protein-containing complex disassembly The disaggregation of a protein-containing macromolecular complex into its constituent components. tmpaxzxjjyw_mondo_relaxed.owl macromolecule complex disassembly|protein complex disassembly|cellular macromolecule complex disassembly owl:Class MONDO:0007333 biolink:NamedThing van der Woude syndrome 1 Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene. tmpaxzxjjyw_mondo_relaxed.owl VWS1|cleft lip and/or palate with mucous cysts of Lower lip|van der Woude syndrome caused by mutation in IRF6|van der Woude syndrome 1|IRF6 van der Woude syndrome|Vdws|Van Der Woude syndrome type 1|lip-pit syndrome|VAN DER Woude syndrome 1 UMLS:C0175697|Orphanet:888|OMIM:119300 owl:Class HGNC:6121 biolink:NamedThing IRF6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014383 biolink:NamedThing myopathy, tubular aggregate, 2 Any tubular aggregate myopathy in which the cause of the disease is a mutation in the ORAI1 gene. tmpaxzxjjyw_mondo_relaxed.owl tubular aggregate myopathy caused by mutation in ORAI1|TAM2|myopathy, tubular aggregate, 2|myopathy, tubular aggregate, type 2|ORAI1 tubular aggregate myopathy OMIM:615883|Orphanet:2593|UMLS:C4014557 owl:Class MONDO:0018543 biolink:NamedThing autosomal dominant hypocalcemia Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria. tmpaxzxjjyw_mondo_relaxed.owl hypocalcemia|hypocalcemia, autosomal dominant|AD hypocalcemia Orphanet:428|DOID:0090109|UMLS:CN205077|OMIM:615361|OMIM:601198|ICD10:E20.8|SCTID:711152006|OMIMPS:601198|GARD:0002877 https://rarediseases.info.nih.gov/diseases/2877/hypocalcemia-autosomal-dominant owl:Class ENVO:01000755 biolink:NamedThing aeroform A part of an astronomical body which is primarily composed of a continuous volume of gaseous or aerosolised material held in shape by one or more environmental processes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class N222c6324583d4d52b7d750f96a996b40 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl CHEBI:17996 biolink:NamedThing chloride A halide anion formed when chlorine picks up an electron to form an an anion. tmpaxzxjjyw_mondo_relaxed.owl Chloride ion|Chlorine anion|Chloride(1-)|Cl(-)|Chloride|Cl-|chloride|CHLORIDE ION|chloride(1-) owl:Class MONDO:0011390 biolink:NamedThing focal segmental glomerulosclerosis 2 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene. tmpaxzxjjyw_mondo_relaxed.owl focal segmental glomerulosclerosis type 2|TRPC6 focal segmental glomerulosclerosis|focal segmental glomerulosclerosis 2|FSGS2|focal segmental glomerulosclerosis caused by mutation in TRPC6|glomerulosclerosis, focal segmental, 2 OMIM:603965|DOID:0111129|MESH:C565831|ICD10:N04.1|UMLS:C1858915 owl:Class HGNC:12338 biolink:NamedThing TRPC6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009928 biolink:NamedThing pulmonary alveolar microlithiasis Pulmonary alveolar microlithiasis is a disorder in which tiny fragments (microliths) of calcium phosphate gradually accumulate in the small air sacs (alveoli) of the lungs. These deposits eventually cause widespread damage to the alveoli and surrounding lung tissue (interstitial lung disease). People with this disorder may also develop a persistent cough and difficulty breathing (dyspnea), especially during physical exertion. Chest pain that worsens when coughing, sneezing, or taking deep breaths is another common feature. People with pulmonary alveolar microlithiasismay also develop calcium phosphate deposits in other organs and tissue of the body. Though the course of the disease can be variable,many casesslowly progress to lung fibrosis, respiratory failure, or cor pulmonale. The only effective therapy is lung transplantation. In some cases, pulmonary alveolar microlithiasis is caused by mutations in the SLC34A2 gene and inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl pulmonary alveolar microlithiasis UMLS:C0155912|GARD:0011894|Orphanet:60025|MedDRA:10037315|ICD10:J84.02|DOID:12117|MESH:C562405|SCTID:87153008|ICD10:J84.0|OMIM:265100|ICD9:516.2 https://rarediseases.info.nih.gov/diseases/11894/pulmonary-alveolar-microlithiasis owl:Class HGNC:11020 biolink:NamedThing SLC34A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003700 biolink:NamedThing brachial plexus neoplasm A neoplasm (disease) that involves the brachial nerve plexus. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of brachial nerve plexus|brachial nerve plexus neoplasm|neoplasm of the brachial plexus|neoplasm of brachial plexus|brachial plexus neoplasm|tumor of brachial plexus|tumor of brachial nerve plexus|brachial nerve plexus neoplasm (disease)|brachial plexus tumor|brachial nerve plexus tumor|brachial plexus neoplasms|tumor of the brachial plexus DOID:5913|NCIT:C5823|UMLS:C1332602 owl:Class UBERON:0002135 biolink:NamedThing mitral valve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005966 biolink:NamedThing outflow part of left atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014986 biolink:NamedThing Fanconi anemia complementation group R Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene. tmpaxzxjjyw_mondo_relaxed.owl Fanconi Anemia, complementation group R|FANCR|Fanconi anemia complementation group type R|RAD51 Fanconi anemia|Fanconi anemia caused by mutation in RAD51|Fanconi anemia, complementation GROUP R|Fanconi Anemia, complementation group type R UMLS:C4284093|DOID:0111090|OMIM:617244 owl:Class UBERON:0003117 biolink:NamedThing pharyngeal arch 6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003619 biolink:NamedThing aorta tunica intima tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:8410021 biolink:NamedThing inguinal region skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002655 biolink:NamedThing cutaneous Paget disease A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. tmpaxzxjjyw_mondo_relaxed.owl cutaneous Paget's disease|cutaneous Paget disease|zone of skin Paget disease|extramammary Paget's disease DOID:3450 owl:Class HGNC:2876 biolink:NamedThing DIAPH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019454 biolink:NamedThing myelodysplastic syndrome with excess blasts A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: myelodysplastic syndrome with excess blasts-1 and myelodysplastic syndrome with excess blasts-2. tmpaxzxjjyw_mondo_relaxed.owl MDS-EB|refractory Anemia with Excess blasts|RAEB|refractory Anemia with an Excess of blasts|myelodysplastic syndrome with Excess blasts NCIT:C7506|MedDRA:10038270|UMLS:C0002894|MESH:D000754|EFO:0003811|SCTID:398623004|ICD10:D46.2|ICDO:9983/3|Orphanet:86839 owl:Class CL:0000049 biolink:NamedThing common myeloid progenitor A progenitor cell committed to myeloid lineage, including the megakaryocyte and erythroid lineages. tmpaxzxjjyw_mondo_relaxed.owl common myeloid precursor|CFU-S|pluripotent stem cell (bone marrow)|CFU-GEMM|myeloid stem cell|multipotential myeloid stem cell|CMP|colony forming unit granulocyte, erythrocyte, macrophage, and megakaryocyte BTO:0004730 This cell type is intended to be compatible with any vertebrate common myeloid progenitor. For mammalian CMP known to be CD34-positive, please use the term 'common myeloid progenitor, CD34-positive' (CL_0001059). cell owl:Class GO:0030425 biolink:NamedThing dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001557 biolink:NamedThing upper respiratory tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014618 biolink:NamedThing retinitis pigmentosa 71 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene. tmpaxzxjjyw_mondo_relaxed.owl IFT172 retinitis pigmentosa|retinitis pigmentosa caused by mutation in IFT172|RP71|retinitis pigmentosa type 71|retinitis pigmentosa 71 OMIM:616394|ICD10:H35.5|DOID:0110363|UMLS:C4225342 owl:Class HGNC:30391 biolink:NamedThing IFT172 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0056818 biolink:NamedThing skin adenosquamous carcinoma An uncommon carcinoma that arises from the skin. It is characterized by the presence of malignant glandular and malignant squamous cellular components. tmpaxzxjjyw_mondo_relaxed.owl skin adenosquamous carcinoma|skin adenosquamous cancer NCIT:C54250|UMLS:C1710103 owl:Class MONDO:0001356 biolink:NamedThing iron deficiency anemia Anemia caused by low iron intake, inefficient iron absorption in the gastrointestinal tract, or chronic blood loss. tmpaxzxjjyw_mondo_relaxed.owl iron-deficiency anemia MESH:D018798|ICD9:280.9|DOID:11758|SCTID:87522002|NCIT:C84484|ICD9:280.8|UMLS:C0162316 owl:Class GO:0006879 biolink:NamedThing cellular iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. tmpaxzxjjyw_mondo_relaxed.owl iron homeostasis owl:Class GO:1905951 biolink:NamedThing mitochondrion DNA recombination Any DNA recombination that takes place in mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl DNA recombination in mitochondria owl:Class GO:0006633 biolink:NamedThing fatty acid biosynthetic process The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. tmpaxzxjjyw_mondo_relaxed.owl fatty acid synthesis|fatty acid formation|fatty acid anabolism|fatty acid biosynthesis owl:Class MONDO:0022832 biolink:NamedThing congenital heart disease radio ulnar synostosis intellectual disability tmpaxzxjjyw_mondo_relaxed.owl GARD:0001484 https://rarediseases.info.nih.gov/diseases/1484/congenital-heart-disease-radio-ulnar-synostosis-mental-retardation owl:Class UBERON:0010849 biolink:NamedThing tibia cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004040 biolink:NamedThing urinary bladder inverted papilloma A neoplasm of the bladder in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria. tmpaxzxjjyw_mondo_relaxed.owl urinary bladder inverted papilloma|bladder inverted papilloma DOID:6932|UMLS:C1511190|SCTID:447765004|NCIT:C39859 owl:Class MONDO:0013475 biolink:NamedThing hypertrophic cardiomyopathy 18 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PLN gene. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic cardiomyopathy type 18|PLN hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in PLN|cardiomyopathy, familial hypertrophic, 18|cardiomyopathy familial hypertrophic 18|CMH18|cardiomyopathy, familial hypertrophic, type 18 DOID:0110324|UMLS:C3151265|OMIM:613874 owl:Class MONDO:0004255 biolink:NamedThing Wolffian adnexal tumor A benign or malignant epithelial neoplasm of probable Wolffian origin. It predominantly arises from the broad ligament and presents as a unilateral adnexal mass. tmpaxzxjjyw_mondo_relaxed.owl female adnexal tumor of probable Wolffian origin|Wolffian adnexal tumor|FATWO|Wolffian adenoma|Wolffian tumor|WAT|Wolffian adnexal neoplasm MESH:C536741|NCIT:C40141|UMLS:C1520159|DOID:7514|GARD:0008680 owl:Class OBO:CHR_9606-chr5q biolink:NamedThing 5q (Human) tmpaxzxjjyw_mondo_relaxed.owl 181538259 48800000 hg38 owl:Class HGNC:29420 biolink:NamedThing RSPRY1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010527 biolink:NamedThing cavity of bone organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014517 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 9 Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene. tmpaxzxjjyw_mondo_relaxed.owl STX1b generalized epilepsy with febrile seizures plus|Gefs+, type 9|generalized epilepsy with febrile seizures plus caused by mutation in STX1b|GEFSP9|STX1B generalized epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures plus, type 9|generalized epilepsy with febrile seizures plus caused by mutation in STX1B OMIM:616172|DOID:0111301|UMLS:C4015395|Orphanet:36387 owl:Class HGNC:18539 biolink:NamedThing STX1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018544 biolink:NamedThing adrenoleukodystrophy A peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency. tmpaxzxjjyw_mondo_relaxed.owl Siemerling-Creutzfeldt disease|encephalitis periaxialis concentrica|diffuse cerebral sclerosis of Schilder|adrenoleukodystrophy, X-linked|ABCD1 deficiency|X-linked adrenoleukodystrophy|ALD|X-linked ALD|sudanophilic cerebral sclerosis|Bronze-Schilder disease|diffuse sclerosis|X-ALD|encephalitis periaxialis, Schilder's|adrenoleukodystrophy|adrenomyeloneuropathy, adult Orphanet:43|OMIM:300100|MESH:D000326|ICD10:E71.52|GARD:0005758|MedDRA:10051260|ICD10:G37.0|OMIM:302700|DOID:10588|ICD10:E71.529|NCIT:C61252|ICD9:341.1|ICD10:E71.3 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0023283 biolink:NamedThing ovarian granulosa cell tumor A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl granulosa theca cell tumor|ovarian granulosa cell tumor|granulosa cell tumor of the ovary|ovarian granulosa cell neoplasm|granulosa cell neoplasm of the ovary|granulosa cell tumor of ovary|ovary granulosa cell tumor|adult granulosa cell tumor of the ovary|GCT of the ovary|granulosa theca cell tumor of the ovary|granulosa cell neoplasm of ovary EFO:1000421|NCIT:C6261|MESH:C537296|UMLS:C1370419|SCTID:254863004 owl:Class HGNC:18884 biolink:NamedThing TDP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013291 biolink:NamedThing glycogen storage disease XV Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. tmpaxzxjjyw_mondo_relaxed.owl Gyg1 deficiency|GSD 15|GSD type 15|glycogen storage disease type 15|GSD with severe cardiomyopathy due to glycogenin deficiency|GSD15|glycogen storage disease type XV|glycogenosis type 15|GSD type XV|glycogenosis with severe cardiomyopathy due to glycogenin deficiency|glycogen storage disease XV|glycogenin deficiency|glycogen storage disease 15|glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency|glycogenosis type XV DOID:0050579|UMLS:C3150754|ICD10:E74.0|SCTID:717821004|OMIM:613507|Orphanet:263297 owl:Class HGNC:4699 biolink:NamedThing GYG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011281 biolink:NamedThing congenital myasthenic syndrome 5 Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl myasthenic syndrome, congenital, 5|congenital myasthenic syndrome 5|myasthenic syndrome, congenital, type 5|congenital myasthenic syndrome caused by mutation in COLQ|Cms Ic|end plate acetylcholinesterase deficiency|EAD|congenital myasthenic syndrome type 5|COLQ congenital myasthenic syndrome|Engel congenital myasthenic syndrome|CMS Ic|Cms Ic, formerly|congenital myasthenic syndrome type Ic|congenital myasthenic syndrome Engel type|endplate acetylcholinesterase deficiency|CMS5|congenital myasthenic syndrome type Ic, formerly|myasthenic syndrome, congenital, Engel type DOID:0110667|Orphanet:98915|MESH:C566415|NCIT:C129304|Orphanet:590|OMIM:603034|UMLS:C1864233 owl:Class MONDO:0001651 biolink:NamedThing scrotum squamous cell carcinoma A rare squamous cell carcinoma that arises from the scrotum. It has been associated with exposure to environmental and industrial carcinogens. The prognosis depends on the extent of lymph node involvement. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of scrotum|scrotum squamous cell carcinoma|squamous cell carcinoma of the scrotum|scrotal squamous cell carcinoma UMLS:C0349551|DOID:13159|NCIT:C4643|SCTID:276860003 owl:Class HP:0003623 biolink:NamedThing Neonatal onset Onset of signs or symptoms of disease within the first 28 days of life. tmpaxzxjjyw_mondo_relaxed.owl Neonatal onset|Onset in neonatal period|Onset in first weeks of life UMLS:C1855106 HP:0003622 human_phenotype owl:Class MONDO:0013897 biolink:NamedThing Loeys-Dietz syndrome 4 Any Loeys-Dietz syndrome in which the cause of the disease is a mutation in the TGFB2 gene. tmpaxzxjjyw_mondo_relaxed.owl TGFB2 Loeys-Dietz syndrome|LDS4|Loeys-Dietz syndrome 4|Loeys-Dietz syndrome caused by mutation in TGFB2|aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations|Loeys-Dietz syndrome type 4 Orphanet:91387|OMIM:614816|DOID:0070233|UMLS:C3553762|GARD:0010588 owl:Class HGNC:11768 biolink:NamedThing TGFB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009751 biolink:NamedThing cardiac mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012677 biolink:NamedThing atrial fibrillation, familial, 4 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNE2 gene. tmpaxzxjjyw_mondo_relaxed.owl KCNE2 familial atrial fibrillation|atrial fibrillation, familial, type 4|familial atrial fibrillation caused by mutation in KCNE2|ATFB4|atrial fibrillation, familial, 4 MESH:C566244|OMIM:611493|UMLS:C1862394|Orphanet:334 owl:Class HGNC:6242 biolink:NamedThing KCNE2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0007003 biolink:NamedThing preodontoblast Skeletogenic cell that has the potential to form an odontoblast, deposits predentine, and arises from a cranial neural crest cell. tmpaxzxjjyw_mondo_relaxed.owl haendel 2012-06-15T05:15:11Z cell owl:Class CL:0000008 biolink:NamedThing migratory cranial neural crest cell Cell that is part of the migratory cranial neural crest population. Migratory cranial neural crest cells develop from premigratory cranial neural crest cells and have undergone epithelial to mesenchymal transition and delamination. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0012466 biolink:NamedThing Parkinson disease 13, autosomal dominant, susceptibility to Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene. tmpaxzxjjyw_mondo_relaxed.owl young-onset Parkinson disease caused by mutation in HTRA2|PARK13|susceptibility to autosomal dominant Parkinson disease 13|HTRA2 young-onset Parkinson disease|Parkinson disease 13, autosomal dominant, susceptibility to MESH:C565204|OMIM:610297|Orphanet:2828 owl:Class MONDO:0024888 biolink:NamedThing mesonephric neoplasm An epithelial neoplasm of the female reproductive system arising from mesonephric remnants. tmpaxzxjjyw_mondo_relaxed.owl Wolffian duct neoplasm|mesonephric tumor|mesonephric duct neoplasm|mesonephroma|mesonephric duct tumor|tumor of mesonephric duct|mesonephric neoplasm|Wolffian duct tumor|neoplasm of mesonephric duct NCIT:C4295|ICDO:9110/1 owl:Class MONDO:0022968 biolink:NamedThing dextrocardia with situs inversus Dextrocardia with situs inversus is a condition that is characterized by abnormal positioning of the heart and other internal organs. In people affected by dextrocardia, the tip of the heart points towards the right side of the chest instead of the left side. Situs inversus refers to the mirror-image reversal of the organs in the chest and abdominal cavity. Some affected people have no obvious signs or symptoms. However, a small percentage of people also have congenital heart defects, usually transposition of the great vessels. Dextrocardia with situs inversus can also be associated with primary ciliary dyskinesia (also known as Kartagener syndrome). Treatment typically depends on the heart or physical problems the person may have in addition to dextrocardia with situs inversus. tmpaxzxjjyw_mondo_relaxed.owl situs inversus totalis GARD:0006268 https://rarediseases.info.nih.gov/diseases/6268/dextrocardia-with-situs-inversus owl:Class MONDO:0010029 biolink:NamedThing situs inversus A congenital condition in which there is complete right-to-left reversal of the position of the major thoracic and abdominal organs (that is, they are arranged in a mirror image of the normal positioning). tmpaxzxjjyw_mondo_relaxed.owl situs ambiguus|situs inversus|complete transposition (morphologic abnormality)|complete situs inversus viscerum|HTX5|complete situs inversus|heterotaxy, visceral, 5, autosomal|situs inversus totalis (disease)|situs inversus totalis|SIV|laterality sequence|situs inversus viscerum DOID:758|SCTID:24614000|HP:0001696|MESH:D012857|Orphanet:101063|OMIM:270100|ICD9:759.3|ICD9:759.89|NCIT:C87121|Orphanet:450|GARD:0004883|ICD10:Q89.3 owl:Class MONDO:0007299 biolink:NamedThing Sotos syndrome 1 Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene. tmpaxzxjjyw_mondo_relaxed.owl chromosome 5Q35 deletion syndrome|SOTOS1|cerebral gigantism|Sotos syndrome type 1|Sotos syndrome caused by mutation in NSD1|Sotos syndrome 1|Sotos syndrome|NSD1 Sotos syndrome Orphanet:821|SCTID:75968004|OMIM:117550|UMLS:C0175695|UMLS:CN035106 owl:Class HGNC:14234 biolink:NamedThing NSD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007099 biolink:NamedThing hyoid neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001916 biolink:NamedThing endothelium of arteriole tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100255 biolink:NamedThing adenosine kinase deficiency A rare inborn error of metabolism characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement. tmpaxzxjjyw_mondo_relaxed.owl hypermethioninemia due to adenosine kinase deficiency|ADK deficiency|mental retardation, autosomal recessive 8; MRT8|mental retardation, autosomal recessive 8, formerly|hypermethioninemia encephalopathy due to adenosine kinase deficiency|autosomal recessive intellectual disability 8|hypermethioninemia encephalopathy due to ADK deficiency|ADK hypermethioninemia|adenosine kinase deficiency|mental retardation, autosomal recessive 8|autosomal recessive mental retardation 8|MRT8 MESH:C567015|OMIM:611094|ICD10:E72.1|OMIM:614300|UMLS:C1970196|Orphanet:289290|DOID:0111038|UMLS:C3280381 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2587 owl:Class HGNC:257 biolink:NamedThing ADK tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35780 biolink:NamedThing phosphate ion A phosphorus oxoanion that is the conjugate base of phosphoric acid. tmpaxzxjjyw_mondo_relaxed.owl phosphate|Pi|phosphate ions owl:Class MONDO:0015395 biolink:NamedThing congenital subglottic stenosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:141121|ICD10:Q31.1|SCTID:204552001|ICD9:748.3 owl:Class HP:0001607 biolink:NamedThing Subglottic stenosis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238441|SNOMEDCT_US:22668006 human_phenotype owl:Class GO:0030099 biolink:NamedThing myeloid cell differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018712 biolink:NamedThing composite hemangioendothelioma An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of spindle, plump, and epithelioid endothelial cells and cellular atypia. tmpaxzxjjyw_mondo_relaxed.owl composite hemangioendothelioma ICD10:D18.0|SCTID:403984006|NCIT:C45475|Orphanet:458758|UMLS:C1304513|UMLS:CN242120 owl:Class UBERON:0012082 biolink:NamedThing bronchial lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002093 biolink:NamedThing spinal dura mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012369 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 6|SLEB6 OMIM:609939 owl:Class MONDO:0004607 biolink:NamedThing vallecula cancer A cancer involving a epiglottic vallecula. tmpaxzxjjyw_mondo_relaxed.owl cancer of epiglottic vallecula|malignant neoplasm of epiglottic vallecula|malignant tumor of vallecula|epiglottic vallecula cancer|malignant epiglottic vallecula neoplasm ICD10:C10.0|UMLS:C0153386|ICD9:146.3|DOID:8556|SCTID:363395000 owl:Class MONDO:0005588 biolink:NamedThing chemotherapy-induced oral mucositis Inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment. tmpaxzxjjyw_mondo_relaxed.owl EFO:0006313 owl:Class MAXO:0000647 biolink:NamedThing chemotherapy The use of synthetic or naturally-occurring chemicals for the treatment of diseases. tmpaxzxjjyw_mondo_relaxed.owl treatment with a chemotherapeutic medication|treatment with a chemotherapeutic agent|treatment with a chemotherapeutic drug|chemotherapeutic drug treatment|chemotherapeutic agent treatment owl:Class CL:1001585 biolink:NamedThing appendix glandular cell Glandular cell of appendix epithelium. Example: Goblet cells; enterocytes or absorptive cells; enteroendocrine and M cells. tmpaxzxjjyw_mondo_relaxed.owl cecal appendix glandular cell|appendix glandular cells|vermiform appendix glandular cell|caecal appendix glandular cell CALOHA:TS-1271 owl:Class MONDO:0017863 biolink:NamedThing digitalis poisoning Digitalis (digoxin) poisoning is a potentially life-threatening poisoning that provokes conduction disturbances, characterized by increased automaticity and decreased conduction. Acute poisoning presents with the common initial manifestations of nausea and vomiting, cardiovascular manifestations (bradycardia, heart block and a variety of dysrhythmias), central nervous system manifestations (lethargy, confusion and weakness) and hyperkalemia. Chronic poisoning is more insidious, manifesting with gastrointestinal symptoms, altered mental status, and visual disturbances. tmpaxzxjjyw_mondo_relaxed.owl SCTID:12876009|UMLS:CN203897|Orphanet:31828|ICD10:T46.0 owl:Class CHEBI:4551 biolink:NamedThing digoxin A cardenolide glycoside that is digitoxin beta-hydroxylated at C-12. A cardiac glycoside extracted from the foxglove plant, Digitalis lanata, it is used to control ventricular rate in atrial fibrillation and in the management of congestive heart failure with atrial fibrillation, but the margin between toxic and therapeutic doses is small. tmpaxzxjjyw_mondo_relaxed.owl (3beta,5beta,12beta)-3-{[2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl]oxy}-12,14-dihydroxycard-20(22)-enolide|12beta-hydroxydigitoxin|digoxin owl:Class CL:2000082 biolink:NamedThing melanocyte of foreskin Any melanocyte of skin that is part of a skin of prepuce of penis. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-12-02T19:10:45Z cell owl:Class MONDO:0000637 biolink:NamedThing musculoskeletal system cancer A malignant neoplasm involving the musculoskeletal system tmpaxzxjjyw_mondo_relaxed.owl cancer of musculoskeletal system|musculoskeletal system cancer|malignant musculoskeletal system neoplasm|malignant neoplasm of musculoskeletal system|skeletal system cancer DOID:0060100 owl:Class MONDO:0010341 biolink:NamedThing autism, susceptibility to, X-linked 2 A class of genetic disorders resulting in intellectual disability that is associated either with mutations of genes located on the X chromosome or aberrations in the structure of the X chromosome (sex chromosome aberrations). tmpaxzxjjyw_mondo_relaxed.owl autism, susceptibility to, X-linked 2|susceptibility to X-linked autism 2|AUTSX2|autism, susceptibility to, X-linked type 2|mental retardation, X-linked|intellectual disability, X-linked MESH:D038901|OMIM:300495 owl:Class HGNC:14287 biolink:NamedThing NLGN4X tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001579 biolink:NamedThing olfactory nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018549 biolink:NamedThing late-onset scapuloperoneal muscular dystrophy with hyaline bodies tmpaxzxjjyw_mondo_relaxed.owl late-onset SPMD with hyaline bodies|late-onset scapuloperoneal syndrome, myopathic type 2022-03-01 Orphanet:431263|UMLS:CN237548 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: progressive muscular dystrophy' MONDO_0016106 owl:Class HP:0100306 biolink:NamedThing Muscle fiber hyaline bodies tmpaxzxjjyw_mondo_relaxed.owl Muscle fibre hyaline bodies UMLS:C4022155 doelkens 2010-08-10T02:49:13Z human_phenotype owl:Class CHEBI:27026 biolink:NamedThing toxin Poisonous substance produced by a biological organism such as a microbe, animal or plant. tmpaxzxjjyw_mondo_relaxed.owl toxins|toxin owl:Class MONDO:0043310 biolink:NamedThing amaurosis fugax Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245) tmpaxzxjjyw_mondo_relaxed.owl momentary blindness|monocular blindness, transient|transient monocular blindness|amaurosis fugax (one sided temporary vision loss)|amaurosis fugax|blindness, transient monocular|blindness, monocular, transient SCTID:88032003|GARD:0009660|MESH:D020757|NCIT:C84550 owl:Class MONDO:0001538 biolink:NamedThing retinal ischemia A ischemic disease that involves the retina. tmpaxzxjjyw_mondo_relaxed.owl ischemic disease of retina|retina ischemic disease UMLS:C0162291|SCTID:26468004|ICD9:362.84|DOID:12510|ICD10:H35.82 owl:Class MONDO:0010027 biolink:NamedThing free sialic acid storage disease, infantile form tmpaxzxjjyw_mondo_relaxed.owl infantile sialic acid storage disorder|infantile sialic acid storage disease|sialuria, infantile form|ISSD|N-acetylneuraminic acid storage disease|Nana storage disease|infantile free sialic acid storage disease Orphanet:309324|OMIM:269920|ICD10:E77.8|GARD:0000175|MedDRA:10067532|SCTID:34566007|Orphanet:834 owl:Class HGNC:10933 biolink:NamedThing SLC17A5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007034 biolink:NamedThing vacuolar transport The directed movement of substances into, out of or within a vacuole. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001070 biolink:NamedThing external carotid artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021562 biolink:NamedThing omphalitis Inflammation of the umbilical cord stump in newborns. tmpaxzxjjyw_mondo_relaxed.owl Omphalitis|omphalitis GTR:AN0533760|UMLS:C0028992|SCTID:239095007|NCIT:C116008 owl:Class UBERON:0001365 biolink:NamedThing sacro-iliac joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003745 biolink:NamedThing choroid spindle cell melanoma A spindle cell melanoma that involves the optic choroid. tmpaxzxjjyw_mondo_relaxed.owl optic choroid spindle cell melanoma|spindle cell melanoma of choroid|spindle cell melanoma of optic choroid|spindle cell melanoma of the choroid NCIT:C6099|DOID:6041|UMLS:C1333027 owl:Class MONDO:0015746 biolink:NamedThing male infertility due to globozoospermia Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent. tmpaxzxjjyw_mondo_relaxed.owl male infertility due to round-headed spermatozoa|globozoospermia|male infertility due to globozoospermia|Male infertility due to round-headed spermatozoa|round-headed sperm syndrome ICD10:N46|GARD:0012502|OMIM:613958|Orphanet:171709|DOID:0111156|OMIM:102530 owl:Class HP:0012205 biolink:NamedThing Globozoospermia Any structural anomaly of the acrosome resulting in a round sperm head. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:236818008|MSH:D000072660|UMLS:C0403825 peter 2013-03-12T12:21:08Z human_phenotype owl:Class ECTO:0000496 biolink:NamedThing exposure to alkylating agent An exposure to alkylating agent. tmpaxzxjjyw_mondo_relaxed.owl exposure to alkylating agent owl:Class CHEBI:22333 biolink:NamedThing alkylating agent Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0035931 biolink:NamedThing mineralocorticoid secretion The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:47868 biolink:NamedThing photosensitizing agent A chemical compound that can be excited by light of a specific wavelength and subsequently transfer energy to a chosen reactant. This is commonly molecular oxygen within a cancer tissue, which is converted to (highly rective) singlet state oxygen. This rapidly reacts with any nearby biomolecules, ultimately killing the cancer cells. tmpaxzxjjyw_mondo_relaxed.owl photosensitising agent owl:Class UBERON:0005988 biolink:NamedThing atrium myocardial trabecula tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002302 biolink:NamedThing myocardium of atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr3p25.3 biolink:NamedThing 3p25.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 11600000 8100000 hg38 owl:Class FOODON:00001172 biolink:NamedThing nut food product tmpaxzxjjyw_mondo_relaxed.owl SUBSET_SIREN:F16972 The default nut product is a whole, raw nut - meaning that the kernel is whole, and moderately or significantly dried, but not baked. Minimal references to nuts often leave ambiguous whether the shell is on or off. "I ate a peanut" doesn't clarify whether I ate a shell-off nut or whether I did the shelling. Damion Dooley owl:Class FOODON:03411213 biolink:NamedThing nut producing plant tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0072376 biolink:NamedThing protein activation cascade A response to a stimulus that consists of a sequential series of modifications to a set of proteins where the product of one reaction acts catalytically in the following reaction. The magnitude of the response is typically amplified at each successive step in the cascade. Modifications typically include proteolysis or covalent modification, and may also include binding events. tmpaxzxjjyw_mondo_relaxed.owl protein activation pathway|protein activitory cascade owl:Class HGNC:2436 biolink:NamedThing CSF2RB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003354 biolink:NamedThing heart sarcoma A malignant soft tissue neoplasm that arises from the heart. The majority of cases are angiosarcomas. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of heart|Cardiac sarcoma|cardiac sarcoma|heart sarcoma|sarcoma of the heart DOID:5262|NCIT:C7723|UMLS:C0238152 owl:Class MONDO:0012506 biolink:NamedThing arrhythmogenic right ventricular dysplasia 11 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the DSC2 gene. tmpaxzxjjyw_mondo_relaxed.owl arrhythmogenic right ventricular cardiomyopathy 11|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2|arrhythmogenic right ventricular dysplasia type 11|arrhythmogenic right ventricular dysplasia 11|arrhythmogenic right ventricular dysplasia, familial, 11, and mild palmoplantar keratoderma with or without woolly hair|arrhythmogenic right ventricular dysplasia, familial, 11|arrhythmogenic right ventricular dysplasia, familial, type 11|DSC2 familial isolated arrhythmogenic right ventricular dysplasia|ARVD11|ARVC11|familial arrhythmogenic right ventricular dysplasia 11|arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair MESH:C566471|ICD10:I42.8|Orphanet:217656|DOID:0110082|OMIM:610476 owl:Class HGNC:3036 biolink:NamedThing DSC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905125 biolink:NamedThing positive regulation of glucosylceramidase activity Any process that activates or increases the frequency, rate or extent of glucosylceramidase activity. tmpaxzxjjyw_mondo_relaxed.owl upregulation of glucosphingosine glucosylhydrolase activity|up-regulation of glucosylsphingosine beta-D-glucosidase activity|upregulation of psychosine hydrolase activity|activation of glucosphingosine glucosylhydrolase activity|up regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|up-regulation of psychosine hydrolase activity|activation of glucocerebrosidase activity|upregulation of glucosylsphingosine beta-glucosidase activity|positive regulation of glucosylsphingosine beta-D-glucosidase activity|up-regulation of ceramide glucosidase activity|upregulation of glucosylceramidase activity|upregulation of glucocerebrosidase activity|up-regulation of acid beta-glucosidase activity|up regulation of GlcCer-beta-glucosidase activity|activation of beta-D-glucocerebrosidase activity|positive regulation of beta-glucosylceramidase activity|upregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|up regulation of glucosylsphingosine beta-D-glucosidase activity|up-regulation of glucosphingosine glucosylhydrolase activity|positive regulation of glucosylcerebrosidase activity|up regulation of glucosylsphingosine beta-glucosidase activity|activation of glucosylcerebrosidase activity|up regulation of ceramide glucosidase activity|upregulation of GlcCer-beta-glucosidase activity|up regulation of glucocerebrosidase activity|activation of psychosine hydrolase activity|up-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|activation of beta-glucocerebrosidase activity|upregulation of glucosylsphingosine beta-D-glucosidase activity|activation of beta-glucosylceramidase activity|up regulation of acid beta-glucosidase activity|up regulation of glucosphingosine glucosylhydrolase activity|positive regulation of glucosylsphingosine beta-glucosidase activity|upregulation of acid beta-glucosidase activity|positive regulation of GlcCer-beta-glucosidase activity|positive regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|activation of glucosylceramidase activity|up regulation of beta-glucosylceramidase activity|up-regulation of glucosylcerebrosidase activity|positive regulation of beta-glucocerebrosidase activity|up-regulation of beta-glucosylceramidase activity|up-regulation of glucocerebrosidase activity|activation of ceramide glucosidase activity|up-regulation of beta-D-glucocerebrosidase activity|up regulation of beta-D-glucocerebrosidase activity|positive regulation of acid beta-glucosidase activity|positive regulation of GCase activity|upregulation of glucosylcerebrosidase activity|up regulation of psychosine hydrolase activity|activation of acid beta-glucosidase activity|up regulation of glucosylcerebrosidase activity|up regulation of beta-glucocerebrosidase activity|positive regulation of ceramide glucosidase activity|positive regulation of glucocerebrosidase activity|up regulation of glucosylceramidase activity|activation of glucosylsphingosine beta-glucosidase activity|activation of GlcCer-beta-glucosidase activity|positive regulation of psychosine hydrolase activity|upregulation of beta-glucocerebrosidase activity|up-regulation of glucosylceramidase activity|upregulation of ceramide glucosidase activity|up-regulation of beta-glucocerebrosidase activity|up-regulation of glucosylsphingosine beta-glucosidase activity|up-regulation of GlcCer-beta-glucosidase activity|upregulation of beta-D-glucocerebrosidase activity|activation of glucosylsphingosine beta-D-glucosidase activity|positive regulation of beta-D-glucocerebrosidase activity|activation of D-glucosyl-N-acylsphingosine glucohydrolase activity|upregulation of beta-glucosylceramidase activity|positive regulation of glucosphingosine glucosylhydrolase activity owl:Class GO:0004348 biolink:NamedThing glucosylceramidase activity Catalysis of the reaction: D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine. tmpaxzxjjyw_mondo_relaxed.owl GlcCer-beta-glucosidase activity|acid beta-glucosidase activity|ceramide glucosidase activity|glucosphingosine glucosylhydrolase activity|glucosylsphingosine beta-glucosidase activity|beta-glucosylceramidase activity|glucosylsphingosine beta-D-glucosidase activity|glucosylcerebrosidase activity|beta-D-glucocerebrosidase activity|psychosine hydrolase activity|D-glucosyl-N-acylsphingosine glucohydrolase activity|beta-glucocerebrosidase activity|glucocerebrosidase activity owl:Class HGNC:3092 biolink:NamedThing DYRK1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4315 biolink:NamedThing GLE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036146 biolink:NamedThing cardiopharyngeal field tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000124 biolink:NamedThing 30-year-old human stage Adult stage that refers to an adult who is over 30 and under 31. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051604 biolink:NamedThing protein maturation Any process leading to the attainment of the full functional capacity of a protein. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017723 biolink:NamedThing Sandhoff disease, adult form A Sandhoff disease that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl Hexosaminidases A and B deficiency, adult form|adult GM2 gangliosidosis 0 variant|Sandhoff disease of adults|adult Sandhoff disease Orphanet:309169|UMLS:CN203619|OMIM:268800|ICD10:E75.0 owl:Class MONDO:0024290 biolink:NamedThing enuresis An elimination disorder characterized by urinary incontinence, whether involuntary or intentional, which is not due to a medical condition and which occurs at or beyond an age at which continence is expected (usually 5 years). tmpaxzxjjyw_mondo_relaxed.owl enuresis NCIT:C34588|UMLS:C0014394|MESH:D004775 owl:Class OBO:MFOMD_0000105 biolink:NamedThing enuresis The habitual voiding of urine during the day or night into one's clothes, bed, or floor. The behaviour is generally involuntary, but in rare situations it may be intentional. "Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue. tmpaxzxjjyw_mondo_relaxed.owl The child must be at least five years old and must void inappropriately at least twice per week for at least three months owl:Class MONDO:0005912 biolink:NamedThing phencyclidine abuse The misuse of phencyclidine with associated psychological symptoms and impairment in social or occupational functioning. tmpaxzxjjyw_mondo_relaxed.owl PCP abuse|phencyclidine abuse SCTID:7071007|DOID:5062|MESH:D010623|ICD9:305.90|EFO:0007436 owl:Class CHEBI:8058 biolink:NamedThing phencyclidine A member of the class of piperidines that is piperidine in which the nitrogen is substituted with a 1-phenylcyclohexyl group. Formerly used as an anaesthetic agent, it exhibits both hallucinogenic and neurotoxic effects. tmpaxzxjjyw_mondo_relaxed.owl 1-(1-phenylcyclohexyl)piperidine|Phencyclidine|phencyclidine|PCP|phencyclidinum|fenciclidina owl:Class MONDO:0014323 biolink:NamedThing retinitis pigmentosa 68 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene. tmpaxzxjjyw_mondo_relaxed.owl RP68|retinitis pigmentosa caused by mutation in SLC7A14|SLC7A14 retinitis pigmentosa|retinitis pigmentosa 68|retinitis pigmentosa type 68 OMIM:615725|ICD10:H35.5|DOID:0110374|UMLS:C3810380 owl:Class HGNC:29326 biolink:NamedThing SLC7A14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014392 biolink:NamedThing developmental and epileptic encephalopathy, 25 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene. tmpaxzxjjyw_mondo_relaxed.owl EIEE25|epileptic encephalopathy, early infantile, type 25|DEE25|SLC13A5 deficiency|developmental and epileptic encephalopathy, 25|SLC13A5 early infantile epileptic encephalopathy|early infantile epileptic encephalopathy caused by mutation in SLC13A5|early infantile epileptic encephalopathy 25|epileptic encephalopathy, early infantile, 25 UMLS:C4014621|DOID:0080453|GARD:0012901|Orphanet:442835|OMIM:615905 https://rarediseases.info.nih.gov/diseases/12901/early-infantile-epileptic-encephalopathy-25 owl:Class MONDO:0008769 biolink:NamedThing neuronal ceroid lipofuscinosis 2 A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. tmpaxzxjjyw_mondo_relaxed.owl ceroid lipofuscinosis, neuronal, type 2|ceroid lipofuscinosis, neuronal, 2|neuronal ceroid lipofuscinosis, late infantile|neuronal ceroid lipofuscinosis type 2|TPP1 neuronal ceroid lipofuscinosis|late infantile neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis caused by mutation in TPP1|CLN2 disease|CLN2|neuronal ceroid lipofuscinosis 2 variable age at onset|CLN2 disease, juvenile (subtype)|ceroid lipofuscinosis, neuronal, 2, variable Age at onset|CLN2 disease, late infantile (subtype)|Jansky-Bielschowsky disease DOID:0110726|GARD:0003045|OMIM:204500|Orphanet:79264|Orphanet:228349|NCIT:C85864|Orphanet:168491|ICD10:E75.4 owl:Class HGNC:2073 biolink:NamedThing TPP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14374 biolink:NamedThing NLRP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012225 biolink:NamedThing Senior-Loken syndrome 5 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene. tmpaxzxjjyw_mondo_relaxed.owl Senior-Loken syndrome caused by mutation in IQCB1|IQCB1 Senior-Loken syndrome|Senior-Loken syndrome 5|SENIOR-Loken syndrome 5|Senior-Loken syndrome type 5|SLSN5 Orphanet:3156|MESH:C563763|UMLS:C1836517|OMIM:609254 owl:Class HGNC:28949 biolink:NamedThing IQCB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019290 biolink:NamedThing hypopigmentation of the skin A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections. tmpaxzxjjyw_mondo_relaxed.owl hypopigmentation of the skin|hypopigmentation of the skin (disease)|hypomelanoses|hypomelanosis hypopigmentation of the skin (disease) MedDRA:10040868|MESH:D017496|Orphanet:79376|HP:0001010 owl:Class HP:0001010 biolink:NamedThing Hypopigmentation of the skin A reduction of skin color related to a decrease in melanin production and deposition. tmpaxzxjjyw_mondo_relaxed.owl Hypopigmentation|Patchy lightened skin|Skin hypopigmentation|Hypopigmented skin SNOMEDCT_US:18655006|UMLS:C0162835|MSH:D017496|SNOMEDCT_US:23006000|SNOMEDCT_US:201284005|SNOMEDCT_US:89031001 HP:0005589|HP:0007622|HP:0007604 human_phenotype owl:Class MONDO:0007129 biolink:NamedThing tooth agenesis, selective, 1 Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene. tmpaxzxjjyw_mondo_relaxed.owl second premolars and third molars, absence of|tooth agenesis, familial|tooth agenesis, selective, with orofacial cleft|hypodontia/oligodontia 1|MSX1 tooth agenesis|hypodontia/oligodontia with orofacial cleft|tooth agenesis, selective, 1|tooth agenesis caused by mutation in MSX1|tooth agenesis, selective, type 1|STHAG1 OMIM:106600|Orphanet:99798 owl:Class HGNC:7391 biolink:NamedThing MSX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002029 biolink:NamedThing Fc-epsilon RIalpha-low mast cell progenitor A lineage-negative, Kit-positive, CD45-positive mast cell progenitor that is Fc-epsilon RIalpha-low. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-04-27T01:22:19Z cell owl:Class CL:0002044 biolink:NamedThing Kit-positive, integrin beta7-high basophil mast progenitor cell A basophil mast progenitor cell that is Beta-7 integrin-high, Kit-positive FcRgammaII/III-positive and Sca1-negative. tmpaxzxjjyw_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-04-27T01:22:38Z cell owl:Class MONDO:0010186 biolink:NamedThing vitamin D-dependent rickets, type 2A Rickets caused by a defect in the VDR gene, encoding the vitamin D receptor. This form of rickets is characterized by hypocalcemia, elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations and may also manifest with alopecia. tmpaxzxjjyw_mondo_relaxed.owl generalized resistance to 1,25-dihydroxyvitamin D|vitamin D-dependent rickets, type 2A, with or without alopecia|Pseudovitamin D-deficiency, type 2A|vitamin d-dependent rickets type II with alopecia|VDDR2A|vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol|Pddr 2A|vitamin D-dependent rickets, type 2 caused by mutation in VDR|rickets, hereditary vitamin D-resistant|vitamin D-dependent rickets, type 2A|vitamin D receptor deficiency rickets|vitamin D dependent rickets 2a|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor with alopecia|VDR vitamin D-dependent rickets, type 2|hypocalcemic vitamin D-resistant rickets|rickets-alopecia syndrome SCTID:237894002|OMIM:277440|Orphanet:93160|NCIT:C131075|UMLS:C0342646 owl:Class HGNC:12679 biolink:NamedThing VDR tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004758 biolink:NamedThing serine C-palmitoyltransferase activity Catalysis of the reaction: L-serine + H(+) + palmitoyl-CoA = 3-dehydrosphinganine + CO(2) + CoA. tmpaxzxjjyw_mondo_relaxed.owl acyl-CoA:serine C-2 acyltransferase decarboxylating|palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|serine palmitoyltransferase|SPT|3-oxosphinganine synthetase activity owl:Class ENVO:00002000 biolink:NamedThing slope A solid astronomical body part which is part of the planetary surface between the peak of an elevation or the bottom of a depression and relatively flat surrounding land. tmpaxzxjjyw_mondo_relaxed.owl side|flank owl:Class UBERON:0004176 biolink:NamedThing external genitalia tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:46787 biolink:NamedThing solvent A liquid that can dissolve other substances (solutes) without any change in their chemical composition. tmpaxzxjjyw_mondo_relaxed.owl solvents|Loesungsmittel|solvant owl:Class HGNC:25356 biolink:NamedThing SPRTN tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXq12-q13.3 biolink:NamedThing Xq12-q13.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0014411 biolink:NamedThing myopia 24, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl myopia 24, autosomal dominant|MYP24 UMLS:C4014762|OMIM:615946 owl:Class HGNC:20502 biolink:NamedThing SLC39A5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021373 biolink:NamedThing neoplasm of parietal lobe A neoplasm (disease) that involves the parietal lobe. tmpaxzxjjyw_mondo_relaxed.owl tumor of parietal lobe|neoplasm of parietal lobe|parietal lobe neoplasm|parietal lobe tumor|tumor of the parietal lobe|neoplasm of the parietal lobe|parietal lobe neoplasm (disease) NCIT:C5573|SCTID:126956001|UMLS:C1263888 owl:Class MONDO:0013748 biolink:NamedThing ventricular septal defect 2 Any ventricular septal defect in which the cause of the disease is a mutation in the CITED2 gene. tmpaxzxjjyw_mondo_relaxed.owl ventricular septal defect type 2|CITED2 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in CITED2|ventricular septal defect 2|VSD2 OMIM:614431 owl:Class HGNC:1987 biolink:NamedThing CITED2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010955 biolink:NamedThing trapezius pre-muscle mass tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020458 biolink:NamedThing hemolytic anemia due to erythrocyte adenosine deaminase overproduction Hemolytic anemia due to erythrocyte adenosine deaminase overproduction is a rare, genetic, hematologic disease characterized by mild, chronic hemolytic anemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinemia. Other cells and tissues are not affected. tmpaxzxjjyw_mondo_relaxed.owl adenosine deaminase, elevated, hemolytic anemia due to ICD10:D55.3|OMIM:102730|MESH:C566314|Orphanet:99138|UMLS:CN207319|UMLS:C1863235 owl:Class GO:0004000 biolink:NamedThing adenosine deaminase activity Catalysis of the reaction: adenosine + H2O = inosine + NH3. tmpaxzxjjyw_mondo_relaxed.owl adenosine deaminase reaction|adenosine aminohydrolase activity owl:Class MONDO:0001505 biolink:NamedThing alcoholic hepatitis Acute hepatitis resulting from ingestion of alcohol. tmpaxzxjjyw_mondo_relaxed.owl acute alcoholic Hepatitis|acute alcoholic hepatitis|alcoholic hepatitis|acute alcoholic liver disease|alcoholic Hepatitis UMLS:C0001306|ICD9:571.1|MESH:D006519|CSP:1754-6978|ICD10:K70.1|DOID:12351|SCTID:235875008|NCIT:C34684 owl:Class UBERON:0009854 biolink:NamedThing digestive tract diverticulum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013822 biolink:NamedThing acrodysostosis 2 with or without hormone resistance Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene. tmpaxzxjjyw_mondo_relaxed.owl acrodysostosis 2 with or without hormone resistance|ACRDYS2|PDE4D acrodysostosis|acrodysostosis caused by mutation in PDE4D Orphanet:280651|OMIM:614613|Orphanet:950|UMLS:C3553250 owl:Class UBERON:0001009 biolink:NamedThing circulatory system tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000488 biolink:NamedThing cholangiocyte An epithelial cell that is part of the bile duct. Cholangiocytes contribute to bile secretion via net release of bicarbonate and water. They are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts. tmpaxzxjjyw_mondo_relaxed.owl epithelial cell of bile duct FMA:86481 cell owl:Class GO:0090303 biolink:NamedThing positive regulation of wound healing Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002264 biolink:NamedThing type A cell of stomach A type of enteroendocrine cell found in the stomach that secretes glucagon. tmpaxzxjjyw_mondo_relaxed.owl FMA:83411 tmeehan 2010-09-10T10:54:42Z cell owl:Class GO:0030252 biolink:NamedThing growth hormone secretion The regulated release of growth hormone from secretory granules into the blood. tmpaxzxjjyw_mondo_relaxed.owl somatotropin secretion owl:Class MONDO:0030604 biolink:NamedThing cystic partially differentiated nephroblastoma A variant of Wilms tumor of the kidney characterized by the presence of cystic spaces separated by septa. The septa contain immature epithelial cells, immature stromal cells, and blastema cells. Surgical resection is usually curative. tmpaxzxjjyw_mondo_relaxed.owl malignant cystic nephroma|malignant multilocular cystic nephroma|cystic partially differentiated nephroblastoma NCIT:C6897|ICDO:8959/1|UMLS:C1266139|DOID:7571|ICDO:8959/3 owl:Class PATO:0001673 biolink:NamedThing cystic Structure quality that is the presence of closed epithelium bounded capsules containing one or more liquid or solid organism substances. tmpaxzxjjyw_mondo_relaxed.owl cysts owl:Class HGNC:12502 biolink:NamedThing SUMO1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024538 biolink:NamedThing basal ganglia calcification, idiopathic, 1 tmpaxzxjjyw_mondo_relaxed.owl idiopathic basal ganglia calcification 1|Fahr disease, familial|basal ganglia calcification, idiopathic, 3|striopallidodentate calcinosis, autosomal dominant, adult-onset|IBGC1|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|Fahr disease, familial, formerly|ferrocalcinosis, cerebrovascular|basal ganglia calcification, idiopathic, type 1|striopallidodentate calcinosis, bilateral|basal ganglia calcification, idiopathic, 1|basal ganglia calcification, idiopathic, 3, formerly OMIM:213600|UMLS:C0393590|NCIT:C129973|Orphanet:1980 owl:Class HGNC:10947 biolink:NamedThing SLC20A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015634 biolink:NamedThing isolated osteopoikilosis A osteopoikilosis (disease) that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl isolated osteopoikilosis (disease)|nonsyndromic osteopoikilosis (disease) ICD10:Q78.8|OMIM:166700|Orphanet:166119 owl:Class UBERON:0013159 biolink:NamedThing epithalamus mantle layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007290 biolink:NamedThing cataract 5 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the HSF4 gene. tmpaxzxjjyw_mondo_relaxed.owl cataract 5, multiple types|CTRCT5|HSF4 cataract (disease)|cataract, Marner type|cataract (disease) caused by mutation in HSF4|cataract, lamellar MESH:C535342|OMIM:116800|Orphanet:98995|Orphanet:91492|ICD10:Q12.0|DOID:0110255 owl:Class HGNC:5227 biolink:NamedThing HSF4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0098798 biolink:NamedThing mitochondrial protein-containing complex A protein complex that is part of a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial protein complex owl:Class MONDO:0011806 biolink:NamedThing osteofibrous dysplasia A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases. tmpaxzxjjyw_mondo_relaxed.owl osteofibrous dysplasia|osteofibrous dysplasia of bone|Kempson-Campanacci lesion|OFD|ossifying fibroma of long bones|cortical fibrous dysplasia|osteofibrous dysplasia, susceptibility to|tibia, bowing of, with pseudarthrosis and pectus excavatum|OSFD Orphanet:488265|UMLS:C1709353|OMIM:609143|NCIT:C53970|MESH:C563787|MESH:C563276|OMIM:607278|UMLS:C1836723 owl:Class UBERON:0012329 biolink:NamedThing keratinized stratified squamous epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003887 biolink:NamedThing intraembryonic coelom tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009843 biolink:NamedThing prostate epithelial cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043123 biolink:NamedThing positive regulation of I-kappaB kinase/NF-kappaB signaling Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. tmpaxzxjjyw_mondo_relaxed.owl stimulation of I-kappaB kinase/NF-kappaB cascade|up-regulation of I-kappaB kinase/NF-kappaB cascade|up regulation of I-kappaB kinase/NF-kappaB cascade|activation of I-kappaB kinase/NF-kappaB cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|upregulation of I-kappaB kinase/NF-kappaB cascade owl:Class UBERON:0001963 biolink:NamedThing bronchial-associated lymphoid tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001957 biolink:NamedThing submucosa of bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010598 biolink:NamedThing glycogen storage disease IXa1 Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes. tmpaxzxjjyw_mondo_relaxed.owl phosphorylase kinase deficiency of liver|GSD type IXa|liver glycogenosis, X-linked, type 1|glycogen storage disease 8|glycogenosis type 9A|GSD VIII|glycogenosis type IXa|GSD VIII, formerly|glycogen storage disease VIII|glycogen storage disease IXa1|glycogen storage disease VIII, formerly|glycogen storage disease type IXa|glycogen storage disease type 9A|glycogenosis type 8|hepatic glycogen phosphorylase kinase deficiency|glycogen storage disease IXa|GSD9A|glycogen storage disease type VIII|glycogen storage disease caused by mutation in PHKA2|PHKA2-related glycogen storage disease type IX|glycogenosis type VIII|GSD9A1|PYKL|hepatic phosphorylase kinase deficiency|PHKA2 glycogen storage disease|GSD type 9A EFO:1000952|SCTID:41527003|MESH:C564421|MedDRA:10053242|ICD10:E74.0|SCTID:235908005|OMIM:306000|Orphanet:264580|DOID:2751|GARD:0006538|MESH:D006015|DOID:0111042|UMLS:C0017927 https://github.com/monarch-initiative/mondo/issues/2128|https://rarediseases.info.nih.gov/diseases/6538/glycogen-storage-disease-8 owl:Class UBERON:0006003 biolink:NamedThing integumentary adnexa tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012351 biolink:NamedThing urachal lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002068 biolink:NamedThing urachus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001154 biolink:NamedThing Siberian tick typhus A spotted fever that has material basis in Rickettsia sibirica, which is transmitted by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has symptom fever, has symptom eschar, has symptom regional adenopathy, and has symptom maculopapular rash. tmpaxzxjjyw_mondo_relaxed.owl Rickettsia sibirica spotted fever|North Asian tick fever (disorder) [ambiguous]|Manchurian typhus|North Asian tick typhus|North Asian tick fever ICD10:A77.2|UMLS:C0549160|DOID:10921|SCTID:186781003|ICD9:082.2 owl:Class NCBITaxon:49202 biolink:NamedThing Dermacentor marginatus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:48356 biolink:NamedThing protic solvent A polar solvent that is capable of acting as a hydron (proton) donor. tmpaxzxjjyw_mondo_relaxed.owl protogenic solvent owl:Class GO:0140416 biolink:NamedThing transcription regulator inhibitor activity A molecular function regulator that inhibits the activity of a transcription regulator via direct binding and/or post-translational modification. tmpaxzxjjyw_mondo_relaxed.owl DNA-binding transcription factor inhibitor activity owl:Class MONDO:0017050 biolink:NamedThing intraocular medulloepithelioma Intraocular medulloepithelioma is a rare eye tumor characterized by a white, gray or yellow-colored cystic mass that arises from the primitive neuroectodermal, nonpigmented epithelium of the ciliary body, or occasionally from the optic nerve, optic disc, retina or iris. Typically it has a benign clinical course with good prognosis and generally presents with childhood onset of poor vision and pain, glaucoma, and/or cataract. Leukocoria, exotropia, exophthalmos, strabismus, epiphora, change in eye color, hyphema, and raised intraocular pressure are also remarkable manifestations. tmpaxzxjjyw_mondo_relaxed.owl orbital medulloepithelioma|intraocular medulloepithelioma UMLS:CN202409|UMLS:C1883694|NCIT:C66806|Orphanet:268139 owl:Class UBERON:0034932 biolink:NamedThing epithelium of biliary system tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:32760 biolink:NamedThing L-tyrosinate(1-) An optically active form of tyrosinate having L-configuration. tmpaxzxjjyw_mondo_relaxed.owl L-tyrosine monoanion|L-tyrosine anion|L-tyrosinate(1-)|(2S)-2-amino-3-(4-hydroxyphenyl)propanoate|hydrogen L-tyrosinate owl:Class HGNC:7765 biolink:NamedThing NF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004134 biolink:NamedThing proximal tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002183 biolink:NamedThing cytoplasmic translational initiation The process preceding formation of the peptide bond between the first two amino acids of a protein in the cytoplasm. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004292 biolink:NamedThing cardiac skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019480 biolink:NamedThing Langerhans cell sarcoma A neoplastic proliferation of Langerhans cells with overtly malignant cytologic features. It can be considered a higher grade variant of Langerhans cell histiocytosis (LCH) and it can present de novo or progress from antecedent LCH. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl malignant Langerhans cell sarcoma|LCS|Langerhans cell sarcoma|sarcoma of Langerhans cell GARD:0010491|SCTID:724649000|EFO:0007336|UMLS:C1260327|NCIT:C6921|ONCOTREE:LCS|MESH:D054752|ICD10:C96.4|Orphanet:86897|ICDO:9756/3|DOID:7146 https://rarediseases.info.nih.gov/diseases/10491/langerhans-cell-sarcoma owl:Class UBERON:0005194 biolink:NamedThing thoracic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001765 biolink:NamedThing mammary duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0041751 biolink:NamedThing multibacillary leprosy A lepromatous form of leprosy that is characterized by numerous infiltrated skin lesions displaying high bacillary loads, impaired peripheral nerves, possible involvement of internal organs, and a Th2-mediated immune response. tmpaxzxjjyw_mondo_relaxed.owl multibacillary leprosy|lepromatous leprosy SCTID:416257001 owl:Class GO:0042092 biolink:NamedThing type 2 immune response An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. tmpaxzxjjyw_mondo_relaxed.owl T-helper 2 type immune response|Th2 immune response owl:Class MONDO:0018211 biolink:NamedThing Balint syndrome Balint syndrome is a rare neurologic disease characterized by the triad of optic ataxia, ocular apraxia and simultanagnosia due to posterior parietal lobe lesions. Patients report ophthalmologic difficulties in the absence of underlying ophthalomologic anomalies and present severe visual and spatial disabilities in locating and reaching objects, initiating voluntary eye movements and perceiving more than one object at a time. tmpaxzxjjyw_mondo_relaxed.owl optic ataxia-gaze apraxia-simultanagnosia syndrome|psychic paralysis of visual fixation|Balint-Holmes syndrome UMLS:C0270706|Orphanet:363746|SCTID:765212008|ICD10:H51.8 Recent research in nonhuman primates (NHPs) suggests that many aspects of Balint's syndrome and optic ataxia are a result of damage to specific functional modules for reaching, saccades, grasp, attention, and state estimation. The deficits from large lesions in humans are probably composite effects from damage to combinations of these functional modules. Interactions between these modules, either within posterior parietal cortex or downstream within frontal cortex, may account for more complex behaviors such as hand-eye coordination and reach-to-grasp. owl:Class MONDO:0021183 biolink:NamedThing HTLV-2 infection tmpaxzxjjyw_mondo_relaxed.owl HTLV-II Infection|Infection, HTLV-II|Human T lymphotropic Virus 2 Infection|Human T-lymphotropic Virus 2 Infections|Human T-lymphotropic virus 2 infection|Human T lymphotropic Virus 2 Infections|Infections, HTLV-II|INFECT HTLV II|HTLV II INFECT|HTLV-2 infection|Human T-lymphotropic Virus 2 Infection|Infections, HTLV II|HTLV-II infection|HTLV-II Infections EFO:1001349|MESH:D015491|GARD:0009783|UMLS:C0020102|SCTID:425740005 owl:Class UBERON:0005661 biolink:NamedThing 3rd arch ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003114 biolink:NamedThing pharyngeal arch 3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001236 biolink:NamedThing adrenal medulla tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001532 biolink:NamedThing capillariasis A infectious disease involving the Capillaria. tmpaxzxjjyw_mondo_relaxed.owl infections, Capillaria|Capillaria infection SCTID:52979002|ICD9:127.5|UMLS:C0006897|ICD10:B81.1|DOID:12474 owl:Class NCBITaxon:119095 biolink:NamedThing Capillaria tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006849 biolink:NamedThing scapula tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009683 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2H Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32|muscular dystrophy, Hutterite type|muscular dystrophy Hutterite type|sarcotubular myopathy|autosomal recessive limb-girdle muscular dystrophy type 2H|TRIM32 autosomal recessive limb-girdle muscular dystrophy|LGMD2H|muscular dystrophy limb-girdle type 2H|muscular dystrophy, limb-girdle, type 2H|limb-girdle muscular dystrophy type 2H|Sarcotubular myopathy|limb-girdle muscular dystrophy due to TRIM32 deficiency ICD9:359.89|OMIM:254110|ICD10:G71.0|UMLS:C0270968|MESH:C535897|GARD:0003844|Orphanet:1878|DOID:0110282|SCTID:43226001 owl:Class HGNC:16380 biolink:NamedThing TRIM32 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008039 biolink:NamedThing tropical spastic paraparesis Tropical spastic paraparesis is a chronic systemic immune-mediated inflammatory myeloneuropathy, more frequently reported in women than in men, that usually presents in adulthood with slowly progressive spastic paraparesis of the lower limbs, bladder and bowel dysfunction, and sensory disturbances in the lower extremities (e.g. paresthesia and dysesthesia) and that is associated with a human T-cell lymphotropic virus type 1 (HTLV-1) infection. tmpaxzxjjyw_mondo_relaxed.owl Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis|HTLV-1-associated myelopathy/tropical spastic paraparesis|familial spastic paraparesis, HTLV-1-associated|tropical spastic paraparesis (formerly)|HTLV-1 associated myelopathy/tropical spastic paraparesis|HTLV-associated myelopathy|tropical spastic paraplegia|myelopathy, HTLV-1-associated|tropical spastic paralysis|Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis|Human T-cell leukemia virus type 1 associated myelopathy/tropical spastic paraparesis|ham|TSP|ham/TSP GARD:0008208|MESH:D015493|UMLS:C0030481|ICD9:323.01|Orphanet:289326|OMIM:159580|EFO:0007527|ICD10:G04.1|DOID:321|MedDRA:10044696|SCTID:714279000 owl:Class HP:0003552 biolink:NamedThing Muscle stiffness A condition in which muscles cannot be moved quickly without accompanying pain or spasm. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:16046003|UMLS:C0221170 HP:0009014 human_phenotype owl:Class MONDO:0011474 biolink:NamedThing progressive familial heart block type IB Any progressive familial heart block in which the cause of the disease is a mutation in the TRPM4 gene. tmpaxzxjjyw_mondo_relaxed.owl heart block progressive familial type 1B|progressive familial heart block caused by mutation in TRPM4|progressive familial heart block, type IB|progressive familial heart block type 1B|progressive familial heart block, type 1B|Pfhbib|TRPM4 progressive familial heart block|PFHB1B SCTID:698250005|Orphanet:871|OMIM:604559|DOID:0111076|MESH:C567037|ICD9:426.6|GARD:0002610 owl:Class HGNC:17993 biolink:NamedThing TRPM4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007267 biolink:NamedThing hypertrophic cardiomyopathy 3 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, type 3|cardiomyopathy, familial hypertrophic, 3|hypertrophic cardiomyopathy 3|hypertrophic cardiomyopathy type 3|CMH3|hypertrophic cardiomyopathy caused by mutation in TPM1|TPM1 hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 3 DOID:0110309|UMLS:C1861863|OMIM:115196|MESH:C566170 owl:Class HGNC:12010 biolink:NamedThing TPM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014409 biolink:NamedThing intellectual disability, autosomal recessive 44 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene. tmpaxzxjjyw_mondo_relaxed.owl METTL23 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 44|MRT44|mental retardation, autosomal recessive type 44|intellectual disability, autosomal recessive type 44|autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23|mental retardation, autosomal recessive 44 UMLS:C4014745|OMIM:615942 owl:Class HGNC:26988 biolink:NamedThing METTL23 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014019 biolink:NamedThing dystonia 24 Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene. tmpaxzxjjyw_mondo_relaxed.owl ANO3 dystonic disorder|DYT-ANO3|dystonia type 24|dystonia 24|dystonic disorder caused by mutation in ANO3|DYT24|cranio-cervical dystonia with laryngeal and upper-limb involvement ICD10:G24.8|DOID:0090052|Orphanet:420485|OMIM:615034|UMLS:C3554374|EFO:0009040 Editor note: DO classifies as purely focal owl:Class HGNC:14004 biolink:NamedThing ANO3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002124 biolink:NamedThing medulla of thymus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001999 biolink:NamedThing Abnormal facial shape An abnormal morphology (form) of the face or its components. tmpaxzxjjyw_mondo_relaxed.owl Malformation of face|Unusual facies|Facial dysmorphism|Deformity of face|Abnormal facial shape|Distortion of face|Dysmorphic facies|Abnormal morphology of the face|Dysmorphic facial features|Funny looking face|Distinctive facies|Unusual facial appearance UMLS:C0424503|UMLS:C0266617|SNOMEDCT_US:32003007|UMLS:C1385263|UMLS:C4072833|UMLS:C4072832|SNOMEDCT_US:398302004|SNOMEDCT_US:248200007|SNOMEDCT_US:398206004 This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. HP:0004652|HP:0004643|HP:0002260|HP:0002004|HP:0004675|HP:0004649|HP:0004655|HP:0005124 human_phenotype owl:Class MONDO:0008471 biolink:NamedThing spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia congenita|spondyloepiphyseal dysplasia tarda, X-linked; SEDT|SEDC|spondyloepiphyseal dysplasia, congenital type|SED congenita|congenital spondyloepiphyseal dysplasia|late spondyloepiphyseal dysplasia|Spranger-Wiedemann disease GARD:0004987|Orphanet:94068|OMIM:183900|ICD10:Q77.7|DOID:14789|MESH:C535788|MedDRA:10062920|SCTID:278713008|ICD9:756.9 https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita owl:Class HGNC:2200 biolink:NamedThing COL2A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012320 biolink:NamedThing cervical artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100457 biolink:NamedThing achalasia, familial esophageal An instance of achalsia that is caused by an inherited genomic modification in an individual. tmpaxzxjjyw_mondo_relaxed.owl achalasia, familial esophageal OMIM:200400|UMLS:C1860213 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4055 owl:Class MONDO:0000549 biolink:NamedThing cervical neuroblastoma A relatively uncommon neuroblastoma that is found in the neck. tmpaxzxjjyw_mondo_relaxed.owl neck neuroblastoma|neuroblastoma of neck DOID:0050935 owl:Class MONDO:0014623 biolink:NamedThing microcephaly 14, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene. tmpaxzxjjyw_mondo_relaxed.owl microcephaly 14, primary, autosomal recessive|SASS6 autosomal recessive primary microcephaly|autosomal recessive primary microcephaly caused by mutation in SASS6|MCPH14 DOID:0070279|OMIM:616402|UMLS:C4225338 owl:Class HGNC:25403 biolink:NamedThing SASS6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr5q14.3 biolink:NamedThing 5q14.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 93000000 83500000 hg38 owl:Class MONDO:0007776 biolink:NamedThing hypersensitivity pneumonitis, familial An instance of hypersensitivity pneumonitis that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hypersensitivity pneumonitis, familial|hereditary hypersensitivity pneumonitis OMIM:145300|MESH:C536846|UMLS:C1840386 owl:Class MONDO:0014283 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 56 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant deafness 56|TNC autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness 56|autosomal dominant nonsyndromic deafness caused by mutation in TNC|deafness, autosomal dominant type 56|autosomal dominant nonsyndromic deafness type 56|deafness, autosomal dominant 56|DFNA56 ICD10:H90.3|OMIM:615629|UMLS:C3810170|DOID:0110581 owl:Class HGNC:5318 biolink:NamedThing TNC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009293 biolink:NamedThing glycogen storage disease V Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5), is a severe form of glycogen storage disease characterized by exercise intolerance. tmpaxzxjjyw_mondo_relaxed.owl PYGM glycogen storage disease|McArdle's disease|Pygm deficiency|GSD type V|muscle glycogen phosphorylase deficiency|McArdle disease|glycogenosis type V|glycogen storage disease type V|McArdle type glycogen storage disease|glycogen storage disease V|GSD type 5|GSD5|glycogen storage disease type 5|myophosphorylase deficiency|glycogen storage disease, type V|glycogenosis due to muscle glycogen phosphorylase deficiency|GSD 5|glycogen storage disease due to muscle glycogen phosphorylase deficiency|GSD due to muscle glycogen phosphorylase deficiency|glycogen storage disease caused by mutation in PYGM|glycogen storage disease 5|Mcardle disease|glycogenosis type 5 OMIM:232600|MESH:D006012|NCIT:C84738|UMLS:C0017924|MedDRA:10018462|ICD10:E74.04|ICD10:E74.0|GARD:0006528|Orphanet:368|SCTID:55912009|DOID:2746 owl:Class MONDO:0011451 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene. tmpaxzxjjyw_mondo_relaxed.owl cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1|fatal infantile encephalocardiomyopathy caused by mutation in SCO2|SCO2 fatal infantile encephalocardiomyopathy|CEMCOX1 DOID:0080357|OMIM:604377|Orphanet:1561 owl:Class HGNC:10604 biolink:NamedThing SCO2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012246 biolink:NamedThing thyroid follicular lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:10407 biolink:NamedThing Hepatitis B virus tmpaxzxjjyw_mondo_relaxed.owl Human hepatitis B virus|hepatitis B virus HBV|HBV|human hepatitis B virus HBV|hepatitis B virus, HBV|hepatitis B virus (HBV) GC_ID:1 ncbi_taxonomy owl:Class UBERON:0014796 biolink:NamedThing common tendinous ring tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006141 biolink:NamedThing cervical villoglandular adenocarcinoma A cervical adenocarcinoma characterized by the presence of a prominent villoglandular pattern. tmpaxzxjjyw_mondo_relaxed.owl villoglandular variant cervical mucinous adenocarcinoma|cervical villoglandular carcinoma|cervical villoglandular adenocarcinoma|cervical adenocarcinoma, villoglandular variant|villoglandular adenocarcinoma of the cervix DOID:8338|NCIT:C40208|ONCOTREE:VGCE|UMLS:C4289808|EFO:1000170 owl:Class MONDO:0014861 biolink:NamedThing autoimmune disease, multisystem, infantile-onset, 2 Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene. tmpaxzxjjyw_mondo_relaxed.owl autoimmune disease, multisystem, infantile-onset, type 2|ZAP70 autoimmune disease, multisystem, infantile-onset|autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70|autoimmune disease, multisystem, infantile-onset, 2|ADMIO2|autoimmune disease, multisystem, infantile-onset, 2; ADMIO2 UMLS:C4310768|OMIM:617006 owl:Class HGNC:12858 biolink:NamedThing ZAP70 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005498 biolink:NamedThing primitive heart tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004291 biolink:NamedThing heart rudiment tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100101 biolink:NamedThing fetal akinesia deformation sequence 1 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene. tmpaxzxjjyw_mondo_relaxed.owl FADS1|Pena-Shokeir syndrome type 1|Pena-Shokeir syndrome, type 1 DOID:0111377|OMIM:208150|Orphanet:994 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:7525 biolink:NamedThing MUSK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0042497 biolink:NamedThing mycotoxicosis Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin). tmpaxzxjjyw_mondo_relaxed.owl Fungi poisoning|Poisonings, fungus|Fungi caused poisoning|fungus Poisonings|poisoning, fungus|Mycotoxicoses|fungus poisoning SCTID:26033009|MESH:D015651 owl:Class MONDO:0008334 biolink:NamedThing psoriasis 1, susceptibility to Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene. tmpaxzxjjyw_mondo_relaxed.owl psoriasis caused by mutation in HLA-C|psoriasis 1, susceptibility to|susceptibility to psoriasis 1|PSORS1|HLA-C psoriasis DOID:0111286|OMIM:177900 owl:Class MONDO:0014678 biolink:NamedThing intellectual disability, autosomal dominant 39 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L|intellectual disability, autosomal dominant type 39|mental retardation, autosomal dominant 39|chromosome 2P25.3 deletion syndrome|autosomal dominant non-syndromic intellectual disability 39|intellectual disability, autosomal dominant 39|autosomal dominant intellectual disability 39|MRD39|mental retardation, autosomal dominant type 39|chromosome 2P25.3 Duplication syndrome|MYT1L autosomal dominant non-syndromic intellectual disability|autosomal dominant mental retardation 39 Orphanet:178469|DOID:0070069|OMIM:616521|UMLS:C4225296 owl:Class HGNC:7623 biolink:NamedThing MYT1L tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011475 biolink:NamedThing Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma|Charcot Marie Tooth disease type 4B2|autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2|Charcot-Marie-Tooth disease type 4B2|Charcot-Marie-Tooth disease, type 4B2|Charcot-Marie-Tooth neuropathy, type 4B2|Charcot-Marie-Tooth neuropathy type 4B2|SBF2 Charcot-Marie-Tooth disease type 4|CMT4B2|Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma|Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2|CMT 4B2 UMLS:C1858278|MESH:C535421|GARD:0009200|ICD10:G60.0|SCTID:715800000|Orphanet:99956|OMIM:604563|DOID:0110190 https://rarediseases.info.nih.gov/diseases/9200/charcot-marie-tooth-disease-type-4b2 owl:Class HGNC:2135 biolink:NamedThing SBF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0000587 biolink:NamedThing decreased size A size quality which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl hypoplasia|reduced|underdeveloped|tiny|small owl:Class OBO:CHR_9606-chrXq22.3 biolink:NamedThing Xq22.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 109400000 104500000 hg38 owl:Class OBO:CHR_9606-chrXq22 biolink:NamedThing Xq22 (Human) tmpaxzxjjyw_mondo_relaxed.owl 109400000 99100000 hg38 owl:Class UBERON:0036343 biolink:NamedThing wall of gallbladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005026 biolink:NamedThing mucosa of middle ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013415 biolink:NamedThing chromosome 17p13.1 deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl 17p13.1 deletion syndrome|chromosome 17p13.1 deletion syndrome OMIM:613776|DOID:0060402|UMLS:C3151069|GARD:0010996 owl:Class OBO:CHR_9606-chr17p13.1 biolink:NamedThing 17p13.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 10800000 6500000 hg38 owl:Class MONDO:0002739 biolink:NamedThing extrahepatic bile duct mucinous adenocarcinoma An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. tmpaxzxjjyw_mondo_relaxed.owl bile duct colloidal carcinoma|colloidal carcinoma of bile duct|colloid extrahepatic bile duct adenocarcinoma|mucinous bile duct adenocarcinoma|colloid carcinoma of bile duct|colloidal adenocarcinoma of the bile duct|colloid carcinoma of the bile duct|colloidal bile duct adenocarcinoma|mucinous carcinoma of bile duct|colloid adenocarcinoma of the bile duct|colloid bile duct adenocarcinoma|colloidal carcinoma of the bile duct|colloidal extrahepatic bile duct adenocarcinoma|colloid adenocarcinoma of the extrahepatic bile duct|colloidal bile duct carcinoma|colloidal adenocarcinoma of bile duct|bile duct colloid carcinoma|mucinous adenocarcinoma of the bile duct|extrahepatic bile duct mucinous adenocarcinoma|mucinous extrahepatic bile duct adenocarcinoma|mucinous adenocarcinoma of extrahepatic bile duct|bile duct mucinous adenocarcinoma|colloidal adenocarcinoma of the extrahepatic bile duct|colloid adenocarcinoma of bile duct|colloid bile duct carcinoma|colloidal adenocarcinoma of extrahepatic bile duct|colloid adenocarcinoma of extrahepatic bile duct|mucinous adenocarcinoma of the extrahepatic bile duct|mucinous adenocarcinoma of bile duct|mucinous carcinoma of the bile duct UMLS:C0861856|DOID:3698|NCIT:C5846 owl:Class MONDO:0014494 biolink:NamedThing psoriasis 15, pustular, susceptibility to Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene. tmpaxzxjjyw_mondo_relaxed.owl psoriasis 15, pustular, susceptibility to|AP1S3 generalized pustular psoriasis|susceptibility to pustular psoriasis 15|generalized pustular psoriasis caused by mutation in AP1S3|PSORS15 OMIM:616106|Orphanet:247353|DOID:0111281 owl:Class OBO:CHR_9606-chr17q biolink:NamedThing 17q (Human) tmpaxzxjjyw_mondo_relaxed.owl 83257441 25100000 hg38 owl:Class MONDO:0100305 biolink:NamedThing bile acid CoA:amino acid N-acyltransferase deficiency Any disorder of bile acid aminotransferase in which the cause of the disease is a mutation in the BAAT gene. tmpaxzxjjyw_mondo_relaxed.owl bile acid CoA:amino acid N-acyltransferase deficiency|BAAT deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:932 biolink:NamedThing BAAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014564 biolink:NamedThing congenital bile acid synthesis defect 5 Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital bile acid synthesis defect 5|CBAS5|ABCD3 congenital bile acid synthesis defect|bile acid synthesis defect, congenital, 5|congenital bile acid synthesis defect type 5|bile acid synthesis defect, congenital, type 5|congenital bile acid synthesis defect caused by mutation in ABCD3 OMIM:616278|DOID:0111066 owl:Class HGNC:67 biolink:NamedThing ABCD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035548 biolink:NamedThing colic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013551 biolink:NamedThing hereditary spastic paraplegia 47 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene. tmpaxzxjjyw_mondo_relaxed.owl cerebral palsy, spastic quadriplegic, 5|hereditary spastic paraplegia type 47|autosomal recessive spastic paraplegia 47|cerebral palsy, spastic quadriplegic, 5, formerly|hereditary spastic paraplegia 47|CPSQ5|spastic quadriplegic cerebral palsy 5|SPG47|hereditary spastic paraplegia caused by mutation in AP4B1|spastic paraplegia 47, autosomal recessive|AP4B1 hereditary spastic paraplegia UMLS:C3279738|Orphanet:280763|DOID:0110799|NCIT:C164224|OMIM:614066 owl:Class HGNC:572 biolink:NamedThing AP4B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009254 biolink:NamedThing fucosidosis Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. tmpaxzxjjyw_mondo_relaxed.owl alpha fucosidase deficiency|fucosidosis|lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues|A-fucosidase deficiency|Alpha-L-fucosidase deficiency DOID:14500|ICD10:E77.1|GARD:0006473|OMIM:230000|UMLS:C0016788|ICD9:271.8|NCIT:C61274|MESH:D005645|Orphanet:349|SCTID:64716005 https://rarediseases.info.nih.gov/diseases/6473/fucosidosis owl:Class HGNC:4006 biolink:NamedThing FUCA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016740 biolink:NamedThing transferase activity Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014354 biolink:NamedThing intellectual disability, autosomal recessive 43 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene. tmpaxzxjjyw_mondo_relaxed.owl MRT43|WASHC4 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4|mental retardation, autosomal recessive type 43|mental retardation, autosomal recessive 43|intellectual disability, autosomal recessive type 43|intellectual disability, autosomal recessive 43 UMLS:C4014386|OMIM:615817 owl:Class HGNC:29174 biolink:NamedThing WASHC4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023551 biolink:NamedThing C1q nephropathy C1q nephropathy is a kidney disease in which a large amount of protein is lost in the urine. It is one of the many diseases that can cause the nephrotic syndrome. tmpaxzxjjyw_mondo_relaxed.owl C1q nephropathy GARD:0012136|SCTID:236412002|UMLS:C0403434 owl:Class MONDO:0013778 biolink:NamedThing pseudohypoaldosteronism type 2C Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene. tmpaxzxjjyw_mondo_relaxed.owl WNK1 pseudohypoaldosteronism type 2|pseudohypoaldosteronism, type IIC|pseudohypoaldosteronism, type 2C|PHA2C|pseudohypoaldosteronism type 2 caused by mutation in WNK1 ICD10:I15.1|Orphanet:757|MESH:C564162|UMLS:C1840391|OMIM:614492|Orphanet:88940 owl:Class HGNC:14540 biolink:NamedThing WNK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr18q biolink:NamedThing 18q (Human) tmpaxzxjjyw_mondo_relaxed.owl 80373285 18500000 hg38 owl:Class CL:0000561 biolink:NamedThing amacrine cell Interneuron of the vertebrate retina. They integrate, modulate, and interpose a temporal domain in the visual message presented to the retinal ganglion cells, with which they synapse in the inner plexiform layer. They lack large axons. tmpaxzxjjyw_mondo_relaxed.owl amacrine neuron FMA:67766|FBbt:00005127|BTO:0004044 Not clear if this term overlaps with retinal bipolar neuron (CL:0000748). cell owl:Class CL:0000740 biolink:NamedThing retinal ganglion cell The set of neurons that receives neural inputs via bipolar, horizontal and amacrine cells. The axons of these cells make up the optic nerve. tmpaxzxjjyw_mondo_relaxed.owl ganglion cell of retina|gangliocyte|RGC FMA:67765|BTO:0001800 cell owl:Class GO:0002715 biolink:NamedThing regulation of natural killer cell mediated immunity Any process that modulates the frequency, rate, or extent of natural killer cell mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl regulation of NK cell mediated immunity|regulation of natural killer cell activity owl:Class UBERON:0007689 biolink:NamedThing thyroid diverticulum tmpaxzxjjyw_mondo_relaxed.owl owl:Class N2782af61602348d5a86679570c717d8c biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013389 biolink:NamedThing developmental and epileptic encephalopathy, 12 An extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 12|PLCB1 early infantile epileptic encephalopathy|EIEE12|epileptic encephalopathy, early infantile, type 12|developmental and epileptic encephalopathy, 12|early infantile epileptic encephalopathy 12|early infantile epileptic encephalopathy caused by mutation in PLCB1|DEE12 UMLS:C3150988|DOID:0080459|Orphanet:293181|Orphanet:3451|GARD:0013318|OMIM:613722 https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12 owl:Class MONDO:0014937 biolink:NamedThing aniridia 2 tmpaxzxjjyw_mondo_relaxed.owl aniridia 2; AN2|aniridia 2|aniridia type 2|AN2 MESH:C536372|SCTID:253232000|OMIM:617141 owl:Class HGNC:1171 biolink:NamedThing ELP4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000138 biolink:NamedThing chondrocyte Skeletogenic cell that is terminally differentiated, secretes an avascular, GAG-rich matrix, is embedded in cartilage tissue matrix, retains the ability to divide, and develops from a chondroblast cell. tmpaxzxjjyw_mondo_relaxed.owl cartilage cell FMA:66782|CALOHA:TS-0138|BTO:0000249 cell owl:Class CL:2000014 biolink:NamedThing fibroblast of upper leg skin Any skin fibroblast that is part of a upper leg skin. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-04T15:19:44Z cell owl:Class GO:0045639 biolink:NamedThing positive regulation of myeloid cell differentiation Any process that activates or increases the frequency, rate or extent of myeloid cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl stimulation of myeloid cell differentiation|up regulation of myeloid cell differentiation|upregulation of myeloid cell differentiation|activation of myeloid cell differentiation|up-regulation of myeloid cell differentiation owl:Class OBO:CHR_9606-chr7q36 biolink:NamedThing 7q36 (Human) tmpaxzxjjyw_mondo_relaxed.owl 159345973 148200000 hg38 owl:Class MONDO:0023013 biolink:NamedThing Duker-Weiss-Siber syndrome tmpaxzxjjyw_mondo_relaxed.owl microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism|Duker Weiss Siber syndrome|microphthalmos, microencephaly, intellectual disability, agenesis of the corpus callosum, hypospadius, and cryptorchidism UMLS:C2930993|GARD:0001918|MESH:C535719 https://rarediseases.info.nih.gov/diseases/1918/duker-weiss-siber-syndrome owl:Class MONDO:0008891 biolink:NamedThing riboflavin transporter deficiency A progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy. tmpaxzxjjyw_mondo_relaxed.owl Brown-Vialetto-Van Laere syndrome 1|BVVLS1|riboflavin transmembrane transporter activity disease|Fazio-Londe syndrome|BVVLS|pontobulbar palsy and neurosensory deafness|Brown-Vialetto-van Laere syndrome|sensorineural hearing loss-pontobulbar palsy syndrome|disorder of riboflavin transmembrane transporter activity|progressive bulbar palsy with sensorineural deafness SCTID:699866005|Orphanet:97229|OMIM:211500|OMIMPS:211530|MESH:C537111|DOID:0050694|OMIM:614707|ICD10:G12.1|OMIM:211530|GARD:0009993 https://rarediseases.info.nih.gov/diseases/9993/riboflavin-transporter-deficiency owl:Class GO:0032217 biolink:NamedThing riboflavin transmembrane transporter activity Enables the transfer of riboflavin from one side of a membrane to the other. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. tmpaxzxjjyw_mondo_relaxed.owl riboflavin transporter activity owl:Class UBERON:0004301 biolink:NamedThing middle phalanx tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXp22 biolink:NamedThing Xp22 (Human) tmpaxzxjjyw_mondo_relaxed.owl 24900000 0 hg38 owl:Class UBERON:0002148 biolink:NamedThing locus ceruleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001967 biolink:NamedThing Diffuse mesangial sclerosis Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. tmpaxzxjjyw_mondo_relaxed.owl Mesangial sclerosis|Diffuse mesangial sclerosis glomerulopathy MSH:C537346|UMLS:C0268747|SNOMEDCT_US:111406002 This finding can be demonstrated by renal biopsy. HP:0004728 human_phenotype owl:Class MONDO:0013323 biolink:NamedThing cranioectodermal dysplasia 2 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene. tmpaxzxjjyw_mondo_relaxed.owl CED2|cranioectodermal dysplasia caused by mutation in WDR35|cranioectodermal dysplasia 2|Cranioectodermal dysplasia type 2|CRANIOECTODERMAL dysplasia 2|WDR35 cranioectodermal dysplasia Orphanet:1515|OMIM:613610|UMLS:C3150874 owl:Class MONDO:0010489 biolink:NamedThing intellectual disability, X-linked 101 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the MID2 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked type 101|intellectual disability, X-linked 101|MRX101|non-syndromic X-linked intellectual disability caused by mutation in MID2|MID2 non-syndromic X-linked intellectual disability|mental retardation, X-linked 101|intellectual disability, X-linked type 101 UMLS:C3890168|OMIM:300928 owl:Class UBERON:0003289 biolink:NamedThing meninx of telencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010215 biolink:NamedThing xeroderma pigmentosum group F Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene. tmpaxzxjjyw_mondo_relaxed.owl XP group F|xeroderma pigmentosum VI|XP, group F|ERCC4 xeroderma pigmentosum|xeroderma pigmentosum 6|xeroderma pigmentosum group F|XP6|XP-F|xeroderma pigmentosum, complementation group F|XPF|xeroderma pigmentosum, type 6|xeroderma pigmentosum group type F|xeroderma pigmentosum, type F/Cockayne syndrome|xeroderma pigmentosum, complementation group type F|xeroderma pigmentosum caused by mutation in ERCC4 SCTID:42530008|ICD10:Q82.1|NCIT:C3968|OMIM:278760|MESH:C562592|Orphanet:276264|Orphanet:910|GARD:0005628|Orphanet:220295|DOID:0110848 owl:Class HsapDv:0000102 biolink:NamedThing 8-year-old human stage Child stage that refers to a child who is over 8 and under 9 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100074 biolink:NamedThing norovirus infectious disease Infections caused by viruses of the genus in the family caliciviridae, which is associated with epidemic gastroenteritis in humans. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class NCBITaxon:142786 biolink:NamedThing Norovirus tmpaxzxjjyw_mondo_relaxed.owl Norwalk-like viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010363 biolink:NamedThing intellectual disability, X-linked 91 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene. tmpaxzxjjyw_mondo_relaxed.owl MRX91|intellectual disability, X-linked 91|mental retardation, X-linked 91|mental retardation, X-linked type 91|ZDHHC15 non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 91|non-syndromic X-linked intellectual disability caused by mutation in ZDHHC15 UMLS:C1845142|OMIM:300577|MESH:C564482 owl:Class GO:0060136 biolink:NamedThing embryonic process involved in female pregnancy A reproductive process occurring in the embryo or fetus that allows the embryo or fetus to develop within the mother. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009790 biolink:NamedThing embryo development The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. tmpaxzxjjyw_mondo_relaxed.owl embryogenesis|embryogenesis and morphogenesis|embryonal development owl:Class HGNC:10419 biolink:NamedThing RPS29 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009794 biolink:NamedThing orofaciodigital syndrome IV Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet. tmpaxzxjjyw_mondo_relaxed.owl Mohr-Majewski syndrome|Baraitser-Burn syndrome|orofaciodigital syndrome type 4|oral facial digital syndrome 4|oral-facial-digital syndrome type 4|orofaciodigital syndrome type IV|oral facial digital syndrome type 4|orofaciodigital syndrome 4|Ofd syndrome with tibial defects|oral-Facial-digital syndrome, type 4|OFD4|Ofds 4|orofaciodigital syndrome IV|Ofd syndrome, Baraitser-Burn type|orofaciodigital syndrome with tibial dysplasia|OFD syndrome 4 MESH:C537133|Orphanet:2753|ICD10:Q87.0|SCTID:239031000|DOID:0060374|OMIM:258860|GARD:0000816|UMLS:C0406727 https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 owl:Class MONDO:0012335 biolink:NamedThing obesity due to pro-opiomelanocortin deficiency Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin. tmpaxzxjjyw_mondo_relaxed.owl PROOPIOMELANOCORTIN deficiency|obesity, early-onset, with adrenal insufficiency and Red hair|POMC deficiency|obesity, early-onset, adrenal insufficiency, and Red hair|obesity, early-onset, with adrenal insufficiency and RED hair|OBAIRH Orphanet:71526|UMLS:C1857854|OMIM:609734|OMIM:601665|ICD9:255.5|GARD:0010823|SCTID:702949005|MESH:C565726|ICD10:E66.8 owl:Class HGNC:9201 biolink:NamedThing POMC tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10681 biolink:NamedThing SDHB tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0035051 biolink:NamedThing cardiocyte differentiation The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell that will form part of the cardiac organ of an individual. tmpaxzxjjyw_mondo_relaxed.owl cardiac cell differentiation|heart cell differentiation owl:Class MONDO:0020181 biolink:NamedThing mesenchymatous palpebral tumor tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207041|Orphanet:98591 owl:Class CL:2000032 biolink:NamedThing peripheral nervous system neuron Any neuron that is part of a peripheral nervous system. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-25T02:28:17Z cell owl:Class HGNC:1133 biolink:NamedThing BTK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007797 biolink:NamedThing hypoparathyroidism-deafness-renal disease syndrome The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease. tmpaxzxjjyw_mondo_relaxed.owl Barakat syndrome|nephrosis, nerve deafness, and hypoparathyroidism|HDR|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome|HDR syndrome|hypoparathyroidism, sensorineural deafness, and renal disease|hypoparathyroidism, deafness, and renal anomalies syndrome|hypoparathyroidism-deafness-renal disease syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia Orphanet:2237|ICD10:Q87.8|MESH:C537907|SCTID:724282009|NCIT:C130983|OMIM:146255|DOID:0060878|UMLS:C1840333|GARD:0002911 owl:Class HGNC:4172 biolink:NamedThing GATA3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005013 biolink:NamedThing mucosa of male urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000413 biolink:NamedThing endothelial cell of artery A blood vessel endothelial cell that is part of an arterial endothelium. tmpaxzxjjyw_mondo_relaxed.owl arterial endothelial cell FMA:67761|BTO:0004758|KUPO:0001095 CL:0002542 cell owl:Class GO:0023035 biolink:NamedThing CD40 signaling pathway A series of molecular signals initiated by the binding of the cell surface receptor CD40 to one of its physiological ligands, and ending with regulation of a downstream cellular process, e.g. transcription. tmpaxzxjjyw_mondo_relaxed.owl CD40 signalling pathway owl:Class MONDO:0007683 biolink:NamedThing Grant syndrome Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. tmpaxzxjjyw_mondo_relaxed.owl persistent wormian bones, blue sclerae, mandibular hypoplasia, shallow glenoid fossae and campomelia|Grant syndrome GARD:0002559|SCTID:723827003|Orphanet:2097|OMIM:138930|UMLS:C1841835|MESH:C537293|ICD10:Q87.5 https://rarediseases.info.nih.gov/diseases/2559/grant-syndrome owl:Class UBERON:0007214 biolink:NamedThing mesenchyme derived from trunk neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060986 biolink:NamedThing endocrine hormone secretion The regulated release of a hormone into the circulatory system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070588 biolink:NamedThing calcium ion transmembrane transport A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl calcium ion membrane transport|transmembrane calcium transport owl:Class HGNC:11023 biolink:NamedThing SLC35A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8772 biolink:NamedThing PDE10A tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:75769 biolink:NamedThing B vitamin Any member of the group of eight water-soluble vitamins originally thought to be a single compound (vitamin B) that play important roles in cell metabolism. The group comprises vitamin B1, B2, B3, B5, B6, B7, B9, and B12 (Around 20 other compounds were once thought to be B vitamins but are no longer classified as such). tmpaxzxjjyw_mondo_relaxed.owl B vitamins|B-group vitamins|B-group vitamin|vitamin B owl:Class CHEBI:50733 biolink:NamedThing nutraceutical A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance. tmpaxzxjjyw_mondo_relaxed.owl Nutritional supplement|Dietary Supplement|Food Supplementation owl:Class ENVO:00002006 biolink:NamedThing liquid water An environmental material primarily composed of dihydrogen oxide in its liquid form. tmpaxzxjjyw_mondo_relaxed.owl water owl:Class UBERON:0005015 biolink:NamedThing mucosa of prostatic urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014399 biolink:NamedThing sinusoidal space tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009791 biolink:NamedThing post-embryonic development The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1773 biolink:NamedThing CDK4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002508 biolink:NamedThing gingivitis A disorder involving inflammation of the gums; may affect surrounding and supporting structures of the teeth. tmpaxzxjjyw_mondo_relaxed.owl inflammation of gingiva|chronic gingivitis|gingiva inflammation|acute gingivitis|gingivitis ICD10:K05.1|ICD10:K05.0|SCTID:66383009|ICD9:523.1|ICD10:K05.10|UMLS:C0017574|ICD10:K05.00|ICD9:523.10|MESH:D005891|NCIT:C34636|DOID:3087|ICD9:523.0 owl:Class MONDO:0003275 biolink:NamedThing middle ear cancer A malignant neoplasm involving the middle ear tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of middle Ear|malignant middle Ear tumor|malignant tumor of the middle Ear|middle ear cancer|malignant neoplasm of middle ear|tumor of the middle ear|malignant middle ear neoplasm|cancer of middle ear|malignant neoplasm of the middle Ear NCIT:C4412|NCIT:C4765|DOID:5099|SCTID:127006003|SCTID:363359008 owl:Class MONDO:0019227 biolink:NamedThing inborn disorder of glycerol metabolism An acquired metabolic disease that is has its basis in the disruption of glycerol metabolic process. tmpaxzxjjyw_mondo_relaxed.owl inborn glycerol metabolic process disorder|disorder of glycerol metabolism|inborn error of glycerol metabolic process|rare inborn error of glycerol metabolic process Orphanet:79179 owl:Class GO:0006071 biolink:NamedThing glycerol metabolic process The chemical reactions and pathways involving glycerol, 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. tmpaxzxjjyw_mondo_relaxed.owl glycerol metabolism owl:Class CL:0009039 biolink:NamedThing colon goblet cell A goblet cell that is located in the colon. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of colon owl:Class MONDO:0014284 biolink:NamedThing short-rib thoracic dysplasia 10 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. tmpaxzxjjyw_mondo_relaxed.owl short-rib thoracic dysplasia 10 with or without polydactyly|SRTD10 OMIM:615630|ICD10:Q87.5|ICD10:Q77.2|Orphanet:474|DOID:0110091|UMLS:C3810175|Orphanet:140969 owl:Class HP:0002716 biolink:NamedThing Lymphadenopathy Enlargment (swelling) of a lymph node. tmpaxzxjjyw_mondo_relaxed.owl Lymph node hyperplasia|Swollen lymph nodes SNOMEDCT_US:30746006|UMLS:C0497156|MSH:D000072281 HP:0002735 human_phenotype owl:Class GO:0007588 biolink:NamedThing excretion The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011908 biolink:NamedThing juvenile myelomonocytic leukemia A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl leukemia, juvenile myelomonocytic|juvenile myelomonocytic leukemia|JMML|juvenile chronic myelogenous leukemia|juvenile chronic myelomonocytic leukemia|chronic myelomonocytic leukemia|juvenile chronic myeloid leukemia|leukemia, chronic myelomonocytic|JCML NCIT:C9233|ICDO:9946/3|Orphanet:86834|UMLS:C0349639|GARD:0009884|ICD10:C93.30|EFO:1000309|MedDRA:10023249|ICD10:C93.3|SCTID:445227008|OMIM:607785|UMLS:C0023480|ONCOTREE:JMML|MESH:D054429|DOID:0050458 owl:Class HGNC:9644 biolink:NamedThing PTPN11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013561 biolink:NamedThing chondrodysplasia with joint dislocations, gPAPP type tmpaxzxjjyw_mondo_relaxed.owl gPAPP deficiency|chondrodysplasia with joint dislocations, gPAPP type UMLS:C3279757|Orphanet:280586|GARD:0011009|OMIM:614078 owl:Class HGNC:26019 biolink:NamedThing BPNT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0037870 biolink:NamedThing valine metabolism disease A disease that has its basis in the disruption of valine metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of valine metabolism|disorder of valine metabolic process|valine metabolic process disease SCTID:444756000|UMLS:C2919304 owl:Class GO:0006573 biolink:NamedThing valine metabolic process The chemical reactions and pathways involving valine, 2-amino-3-methylbutanoic acid. tmpaxzxjjyw_mondo_relaxed.owl valine metabolism owl:Class MONDO:0008999 biolink:NamedThing Cohen syndrome Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity. tmpaxzxjjyw_mondo_relaxed.owl cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness|pepper syndrome|COH1|hypotonia, obesity, and prominent incisors|Coh|Chs1, formerly|Chs1|Cohen syndrome DOID:0111590|GARD:0006126|OMIM:216550|ICD10:Q87.8|Orphanet:193|UMLS:C1854061|MedDRA:10049066|SCTID:56604005|MESH:C536438|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/6126/cohen-syndrome owl:Class HGNC:2183 biolink:NamedThing VPS13B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013478 biolink:NamedThing PLIN1-related familial partial lipodystrophy tmpaxzxjjyw_mondo_relaxed.owl FPLD due to PLIN1 mutations|FPLD4|lipodystrophy, familial partial, type 4|familial partial lipodystrophy type 4|PLIN1-related FPLD|lipodystrophy, familial partial, associated with Plin1 mutations|familial partial lipodystrophy associated with PLIN1 mutations Orphanet:280356|ICD10:E88.1|UMLS:C3151268|GARD:0012601|OMIM:613877|DOID:0070205 owl:Class HGNC:9076 biolink:NamedThing PLIN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3954 biolink:NamedThing FRG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050746 biolink:NamedThing regulation of lipoprotein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. tmpaxzxjjyw_mondo_relaxed.owl regulation of lipoprotein metabolism owl:Class GO:0042157 biolink:NamedThing lipoprotein metabolic process The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. tmpaxzxjjyw_mondo_relaxed.owl lipoprotein metabolism owl:Class UBERON:0001885 biolink:NamedThing dentate gyrus of hippocampal formation tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002453 biolink:NamedThing oligodendrocyte precursor cell The cell type from which oligodendrocytes develop. This cell originates from multiple structures within the developing brain including the medial ganglion eminence and the lateral ganglionic eminence. These cells migrate throughout the central nervous system and persist into adulthood where they play an important role in remyelination of injured neurons. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-11-10T02:51:34Z cell owl:Class UBERON:0011299 biolink:NamedThing white matter of telencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019288 biolink:NamedThing skin pigmentation disorder A pigmentation disease that involves the zone of skin. tmpaxzxjjyw_mondo_relaxed.owl zone of skin pigmentation disease|pigmentation anomaly of the skin|pigmentation disease of zone of skin|pigmentation disease ICD9:709.09|DOID:10123|MESH:D010859|Orphanet:79374|EFO:1000755 owl:Class UBERON:0004315 biolink:NamedThing distal phalanx of pedal digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000127 biolink:NamedThing 33-year-old human stage Adult stage that refers to an adult who is over 33 and under 34. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017790 biolink:NamedThing gastric adenocarcinoma and proximal polyposis of the stomach A rare hereditary gastric cancer characterized by proximal gastric polyposis and increased risk of early-onset, intestinal-type adenocarcinoma of the gastric body, with no duodenal or colorectal polyposis. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl polyposis, gastric|familial fundic gland polyposis with gastric cancer|polyposis, gastric, Dos Santos and de Magalhaes 1980|fundic gland polyposis|GAPPS OMIM:619182|UMLS:C0236048|Orphanet:314022|UMLS:CN203740 owl:Class MONDO:0008277 biolink:NamedThing stomach polyp A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps). tmpaxzxjjyw_mondo_relaxed.owl polyps of stomach|gastric polyposa|polyps of the stomach|gastric polyposis|gastric polyp SCTID:87252009|NCIT:C3954|MESH:C562464 Editor note: consider splitting polyposis from polyp owl:Class UBERON:0001608 biolink:NamedThing dilatator pupillae tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006164 biolink:NamedThing purine nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine nucleotide anabolism|purine nucleotide biosynthesis|purine nucleotide synthesis|purine nucleotide formation owl:Class GO:0002582 biolink:NamedThing positive regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. tmpaxzxjjyw_mondo_relaxed.owl activation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|positive regulation of peptide or polysaccharide antigen processing and presentation via MHC class II|stimulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|upregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|up-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|up regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II owl:Class GO:0002504 biolink:NamedThing antigen processing and presentation of peptide or polysaccharide antigen via MHC class II The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. tmpaxzxjjyw_mondo_relaxed.owl peptide or polysaccharide antigen processing and presentation of via MHC class II owl:Class CL:0002576 biolink:NamedThing perineural cell A myofibroblast that lies in the connective tissue of the spinal cord that has a distinctly lamellar arrangement. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-02T03:03:58Z cell owl:Class UBERON:0000121 biolink:NamedThing perineurium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042640 biolink:NamedThing anagen The growth phase of the hair cycle. Lasts, for example, about 3 to 6 years for human scalp hair. tmpaxzxjjyw_mondo_relaxed.owl hair growth owl:Class UBERON:0004478 biolink:NamedThing musculature of larynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8846 biolink:NamedThing PER2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrX biolink:NamedThing chromosome X (Human) tmpaxzxjjyw_mondo_relaxed.owl X 156040895 0 hg38 owl:Class UBERON:0005672 biolink:NamedThing right lung endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr6q24-q25 biolink:NamedThing 6q24-q25 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class GO:0035228 biolink:NamedThing negative regulation of glutamate-cysteine ligase activity Any process that stops or reduces the activity of the enzyme glutamate-cysteine ligase. tmpaxzxjjyw_mondo_relaxed.owl inhibition of glutamate-cysteine ligase activity|down-regulation of glutamate-cysteine ligase activity|down regulation of glutamate-cysteine ligase activity|downregulation of glutamate-cysteine ligase activity owl:Class GO:0004357 biolink:NamedThing glutamate-cysteine ligase activity Catalysis of the reaction: L-cysteine + L-glutamate + ATP = L-gamma-glutamyl-L-cysteine + ADP + 2 H(+) + phosphate. tmpaxzxjjyw_mondo_relaxed.owl gamma-glutamyl-L-cysteine synthetase activity|gamma-glutamylcysteinyl synthetase activity|gamma-glutamylcysteine synthetase activity|L-glutamate:L-cysteine gamma-ligase (ADP-forming) activity owl:Class MONDO:0011569 biolink:NamedThing Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 2B1|autosomal recessive Charcot-Marie-Tooth disease type 2B1|Charcot-Marie-Tooth disease neuronal type 2B1|Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA|Charcot Marie Tooth disease type 2B1|autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1|CMT 2B1|autosomal recessive axonal CMT4C1|Charcot-Marie-Tooth disease, neuronal, type 2B1|Charcot-Marie-Tooth neuropathy, type 2B1|Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1|CMT2B1|Charcot-Marie-Tooth disease, axonal, type 2B1|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1|LMNA Charcot-Marie-Tooth disease type 2|AR-CMT2B1 GARD:0008548|ICD10:G60.0|UMLS:C1854154|MESH:C537990|Orphanet:98856|OMIM:605588|SCTID:725048002|DOID:0110156 https://rarediseases.info.nih.gov/diseases/8548/charcot-marie-tooth-disease-type-2b1 owl:Class MONDO:0008938 biolink:NamedThing early-onset cerebellar ataxia with retained tendon reflexes Early onset cerebellar ataxia with retained reflexes (EOCARR) or Harding ataxia is a cerebellar ataxia characterized by the progressive association of a cerebellar and pyramidal syndrome with progressive cerebellar ataxia, brisk tendon reflexes, and sometimes profound sensory loss. tmpaxzxjjyw_mondo_relaxed.owl ataxia, harding type|Harding ataxia|EOCARR|EOCA|cerebellar ataxia, early-onset, with retained tendon reflexes|cerebellar ataxia early onset with retained tendon reflex ICD9:334.3|MESH:C535633|OMIM:212895|ICD10:G11.1|SCTID:230228004|UMLS:C0393520|GARD:0002600|Orphanet:1177 owl:Class UBERON:0035827 biolink:NamedThing right adrenal gland cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008472 biolink:NamedThing spondyloepiphyseal dysplasia, MacDermot type Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome|spondyloepiphyseal dysplasia, myopia, and sensorineural deafness Orphanet:163668|OMIM:184000|MESH:C566659|UMLS:C1866719|ICD10:Q77.7 owl:Class MONDO:0008720 biolink:NamedThing congenital isolated adrenocorticotropic hormone deficiency A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl congenital isolated adrenocorticotropic hormone deficiency (disease)|ACTH deficiency, isolated|IAD|isolated ACTH deficiency|adrenocorticotropic hormone deficiency|isolated adrenocorticotropic hormone deficiency|congenital isolated ACTH deficiency congenital isolated adrenocorticotropic hormone deficiency (disease) GARD:0005727|OMIM:201400|DOID:0080150|HP:0011748|ICD10:E23.6|ICD9:255.41|EFO:1001979|UMLS:C0342388|Orphanet:199296|MESH:C535668|SCTID:237692001 owl:Class NCBITaxon:33630 biolink:NamedThing Alveolata tmpaxzxjjyw_mondo_relaxed.owl alveolates GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2698737 biolink:NamedThing Sar tmpaxzxjjyw_mondo_relaxed.owl SAR supergroup GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014832 biolink:NamedThing intellectual disability, autosomal recessive 53 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal recessive type 53|intellectual disability, autosomal recessive 53|mental retardation, autosomal recessive type 53|mental retardation, autosomal recessive 53|early-onset epilepsy-intellectual disability-brain anomalies syndrome|PIGG-CDG|congenital disorder of glycosylation due to PIGG deficiency|glycosylphosphatidylinositol biosynthesis defect 13|MRT53|GPIBD13 UMLS:C4310794|Orphanet:488635|OMIM:616917 MONDO:0024253 owl:Class MONDO:0009575 biolink:NamedThing thiamine-responsive megaloblastic anemia syndrome Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness. tmpaxzxjjyw_mondo_relaxed.owl thiamine responsive megaloblastic anemia syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1|megaloblastic Anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness|TRMA|megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness|thiamine-responsive Anemia syndrome|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|thiamine-responsive anemia syndrome|Rogers syndrome|THMD1|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type)|thiamine-responsive megaloblastic anemia syndrome|thiamine metabolism dysfunction syndrome 1 (megaloblastic Anemia, diabetes mellitus, and deafness type) OMIM:249270|SCTID:237617006|ICD10:Q21.0|GARD:0009210|GARD:9210|Orphanet:49827|DOID:0090117|MESH:C536510 https://rarediseases.info.nih.gov/diseases/9210/thiamine-responsive-megaloblastic-anemia-syndrome owl:Class GO:0000098 biolink:NamedThing sulfur amino acid catabolic process The chemical reactions and pathways resulting in the breakdown of amino acids containing sulfur, comprising cysteine, methionine and selenocysteine. tmpaxzxjjyw_mondo_relaxed.owl sulfur amino acid catabolism|sulphur amino acid catabolic process|sulfur amino acid degradation|sulfur amino acid breakdown|sulphur amino acid catabolism owl:Class MONDO:0008754 biolink:NamedThing alopecia - contractures - dwarfism - intellectual disability syndrome Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. tmpaxzxjjyw_mondo_relaxed.owl ACD intellectual disability syndrome|ACD-intellectual disability syndrome|ACD mental retardation syndrome|alopecia-contractures-dwarfism mental retardation syndrome|alopecia-contractures-dwarfism intellectual disability syndrome MESH:C537051|UMLS:C0795895|OMIM:203550|ICD10:Q87.8|Orphanet:1005|GARD:0000605 https://rarediseases.info.nih.gov/diseases/605/alopecia-contractures-dwarfism-intellectual-disability-syndrome owl:Class MONDO:0024744 biolink:NamedThing childhood choroid plexus neoplasm A neoplasm that arises from the choroid plexus in the brain and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl choroid plexus neoplasm of childhood|childhood choroid plexus neoplasm|pediatric choroid plexus neoplasm|choroid plexus neoplasm NCIT:C42080 owl:Class NCBITaxon:7147 biolink:NamedThing Diptera tmpaxzxjjyw_mondo_relaxed.owl flies GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016653 biolink:NamedThing 2q33.1 microdeletion syndrome 2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. tmpaxzxjjyw_mondo_relaxed.owl Del(2)(q33.1)|monosomy 2q33.1 UMLS:CN201882|ICD10:Q93.5|SCTID:763062006|Orphanet:251028 owl:Class MONDO:0009773 biolink:NamedThing odonto-onycho-dermal dysplasia A form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair. tmpaxzxjjyw_mondo_relaxed.owl odontoonychodermal dysplasia|ectodermal dysplasia|OODD GARD:0004054|ICD10:Q82.4|OMIM:257980|Orphanet:2721|MESH:C537742|UMLS:C0796093|SCTID:403762003 https://github.com/monarch-initiative/mondo/issues/3293 owl:Class MONDO:0009782 biolink:NamedThing ophthalmoplegia totalis with ptosis and miosis tmpaxzxjjyw_mondo_relaxed.owl ophthalmoplegia totalis with ptosis and miosis MESH:C564927|UMLS:C1850314|OMIM:258400 owl:Class HGNC:10648 biolink:NamedThing AIMP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018121 biolink:NamedThing mitochondrial DNA maintenance syndrome An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance. tmpaxzxjjyw_mondo_relaxed.owl rare inborn error of mitochondrial genome maintenance|mtDNA maintenance syndrome|inborn error of mitochondrial genome maintenance|inborn mitochondrial genome maintenance disorder UMLS:CN204491|Orphanet:352456 owl:Class MONDO:0004445 biolink:NamedThing bladder papillary clear cell adenocarcinoma A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a papillary pattern. tmpaxzxjjyw_mondo_relaxed.owl bladder papillary clear cell adenocarcinoma UMLS:C1511196|DOID:8051|NCIT:C39848 owl:Class MONDO:0010331 biolink:NamedThing coronary heart disease, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl coronary heart disease, susceptibility to, type 3|coronary heart disease, susceptibility to, 3|Chds3 OMIM:300464 owl:Class HGNC:17493 biolink:NamedThing GMNN tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0015008 biolink:NamedThing distensibility A quality inhering in a bearer by virtue of the extent to which the bearer is capable of being stretched or swollen. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014907 biolink:NamedThing short-rib thoracic dysplasia 15 with polydactyly tmpaxzxjjyw_mondo_relaxed.owl SRTD15|short-rib thoracic dysplasia 15 with polydactyly|short-rib thoracic dysplasia 15 with polydactyly; SRTD15 UMLS:C4310724|OMIM:617088 owl:Class HGNC:7419 biolink:NamedThing MT-CO1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003191 biolink:NamedThing rete ovarii adenocarcinoma An exceptionally rare adenocarcinoma that arises from the rete ovarii. tmpaxzxjjyw_mondo_relaxed.owl rete ovarii adenocarcinoma UMLS:C3840223|NCIT:C40017|DOID:4894 owl:Class MONDO:0003192 biolink:NamedThing rete ovarii neoplasm A benign or malignant neoplasm that arises from the rete ovarii which is located in the ovarian hilus. It includes adenoma, cystadenoma, cystadenofibroma, and adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl rete ovarii neoplasm (disease)|rete ovarii tumor|neoplasm of rete ovarii|tumor of rete ovarii DOID:4895|UMLS:C1514909|NCIT:C40016 owl:Class MONDO:0010961 biolink:NamedThing obesity due to prohormone convertase I deficiency Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones. tmpaxzxjjyw_mondo_relaxed.owl obesity and endocrinopathy due to impaired processing of prohormones|PCI deficiency|proprotein convertase 1/3 deficiency UMLS:C1833053|DOID:0111698|OMIM:600955|ICD10:E66.8|Orphanet:71528|SCTID:722053001|UMLS:C4302878|MESH:C563423 owl:Class OBO:MFOMD_0000013 biolink:NamedThing depressed mood episode A depressed mood episode is a pathological mental process characterised by persistent feelings of sadness, anxiety, guilt, anger, isolation or hopelessness and other negative valence emotions, disturbances in sleep and appetite, fatigue, loss of interest in usually enjoyable activities and morbid or suicidal ideation. tmpaxzxjjyw_mondo_relaxed.owl The criteria below are based on the formal DSM-IV criteria for a Major Depressive Episode. A diagnoses of major depressive episode requires that the patient has—over a two-week period—experienced five or more of the symptoms below, and these must be outside the patient's normal behaviour. Either depressed mood or decreased interest or pleasure must be one of the five (although both are frequently concomitant). Mood For the better part of nearly every day, the patient reports a depressed mood or appears depressed to others. The patient may state that he or she has been feeling sad, depressed, blue, empty, "down in the dumps," hopeless, etc. If the patient is in denial about these feelings, yet appears to be on the verge of tearfulness, manifests a depressed facial expression and disposition, or appears to be overly irritable, these may also indicate the presence of depressed mood. Some people may report physical complaints (i.e., aches, pains, headaches) rather than depressed mood, and physical symptoms without physical cause are sometimes indicators of depression. Anhedonia and loss of interest For most of nearly every day, interest or pleasure is markedly decreased in nearly all activities (noted by the patient or by others). People suffering with depression tend to lose interest in things they once found enjoyable. Activities are no longer enjoyable and there is often a loss of interest in or desire for sex. People who are depressed may say, "I just don't care anymore," or "nothing matters anymore." Friends and family of the depressed person may notice that he/she has withdrawn from friends, or has neglected or quit doing activities that were once a source of enjoyment. Change in eating, appetite, or weight Although not dieting, there is a marked loss or gain of weight (such as 5% in one month) or appetite is markedly decreased or increased nearly every day. Changes in appetite take on two manifestations: under- or over-eating. In the first instance, some people never feel hungry, can go long periods without wanting to eat, may forget to eat, or if they do eat a small amount of food may be sufficient. A reduction in weight is often associated with a melancholic type of depression. In the second instance, some people tend toward an increase in appetite and may gain significant amounts of weight. They may tend to crave certain types of food such as sweets or carbohydrates. People with seasonal affective disorder (SAD) often crave foods high in carbohydrates. Weight gain is often associated with atypical depression. Sleep Nearly every day the patient sleeps excessively, known as hypersomnia, or not enough, known as insomnia. Insomnia is the most common type of sleep disturbance for people who are clinically depressed. Having difficulty falling asleep at night is known as "initial" insomnia; waking in the middle of the night and being unable to go back to sleep as "middle insomnia", and; waking too early as "terminal insomnia". Insomnia is often associated with a melancholic type of depression. A less frequent sleeping problem is oversleeping (called "hypersomnia"). This may occur in the form of sleeping for prolonged periods at night or increased sleeping during the daytime. Even with excess sleep, a person may still feel tired and sluggish during the day. People with seasonal affective disorder (SAD) may sleep longer during the winter months. Hypersomnia is often associated with an atypical depression. Motor activity Nearly every day others can see that the patient's activity is agitated or slow. People suffering from depression may be either quite agitated (psychomotor agitation), or very lethargic (psychomotor retardation) in their mannerisms and behavior. If a person is agitated, he or she may find it difficult to sit still, may pace the room, wring his/her hands, or fidget with clothes or objects. Someone with psychomotor retardation tends to move sluggishly, may move across a room very slowly, avert his/her eyes, sit slumped in a chair and speak slowly, saying little. In terms of diagnosis, the agitation or slowing down of one's demeanor must be to the degree that it can be observed by others. Fatigue Nearly every day the person experiences extreme fatigue.[3] A decrease in energy and feeling fatigued are very common symptoms for those who are clinically depressed. A person may feel tired without having engaged in any physical activity, and day-to-day tasks become difficult, including getting washed and dressed in the morning. Job tasks or housework become very tiring, and the person finds that his/her work at home, school, or on the job suffers.[4] Self-worth Nearly every day the patient feels worthless or inappropriately guilty. These feelings are not just about being depressed, they may be delusional. Depressed people may think of themselves in very negative, unrealistic ways such as manifesting a preoccupation with past "failures", personalisation of trivial events, or believing that minor mistakes prove their inadequacy. They also may have an unrealistic sense of personal responsibility and see things beyond their control as being their fault. Additionally, self-loathing is common in clinical depression, and can lead to a downward spiral when combined with other symptoms. Concentration Noted by the patient or by others, nearly every day the patient is indecisive or has trouble thinking or concentrating. A person with depression frequently experiences negative and pessimistic thoughts, and reports that his/her ability to think, concentrate, or make decisions becomes impaired. Memory and distraction problems are common. This problem can be notably pronounced, causing significant difficulty in functioning for those involved in intellectually demanding activities. Thoughts of death The patient has had repeated thoughts about death (other than the fear of dying), suicide (with or without a plan) or has made a suicide attempt. The frequency and intensity of thoughts about suicide can range from believing that friends and family would be better off if one were dead, to frequent thoughts about committing suicide (generally related to wishing to stop the emotional pain), to detailed plans about how the suicide would be carried out. Less severely suicidal people may have regular thoughts of suicide, while those who are more severely suicidal may have made specific plans and decided upon a day and location for the suicide attempt. Thoughts of suicide occur mostly when triggered. Thoughts of suicide happen more frequently than normal. Diagnostic caveats In diagnosing the symptoms a trained therapist must take the following into account: These symptoms must cause clinically important distress, or impair work, social or personal functioning, and they should not fulfil the criteria for Mixed Episode. The symptoms are not due to the direct physiological effects of a substance (e.g., abuse of a drug or medication) or a general medical condition (e.g., hypothyroidism). Other than in the case of severe symptoms (severely impaired functioning, severe preoccupation with worthlessness, ideas of suicide, delusions or hallucinations or psychomotor retardation), the episode should not have begun within two months of the loss of a loved one. [Wikipedia: http://en.wikipedia.org/wiki/Major_depressive_episode] owl:Class OBO:MFOMD_0000024 biolink:NamedThing pathological mental process tmpaxzxjjyw_mondo_relaxed.owl http://www.jbiomedsem.com/content/1/1/10 owl:Class GO:0099080 biolink:NamedThing supramolecular complex A cellular component that consists of an indeterminate number of proteins or macromolecular complexes, organized into a regular, higher-order structure such as a polymer, sheet, network or a fiber. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017264 biolink:NamedThing syndromic recessive X-linked ichthyosis Syndromic recessive X-linked ichthyosis (RXLI) refers to the cases of RXLI that are associated with extracutaneous manifestations as part of a syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic recessive X-linked ichthyosis|recessive X-linked ichthyosis with extracutaneous manifestations|syndrome associated with recessive X-linked ichthyosis|syndromic RXLI|syndromic X-linked ichthyosis ICD10:Q80.1|UMLS:CN202782|Orphanet:281090|SCTID:717041008|OMIM:308100|UMLS:C4274085 owl:Class MONDO:0017269 biolink:NamedThing X-linked ichthyosis syndrome X-linked form of inherited ichthyosis syndromic form. tmpaxzxjjyw_mondo_relaxed.owl inherited ichthyosis syndromic form, X-linked|X-linked inherited ichthyosis syndromic form MedDRA:10048063|Orphanet:281210 Editor note: check relationship to syndromic recessive X-linked ichthyosis owl:Class UBERON:0003528 biolink:NamedThing brain gray matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007172 biolink:NamedThing atrial septal defect 1 An atrial heart septal defect type 1 associated with variation in the region 5p. tmpaxzxjjyw_mondo_relaxed.owl atrial septal defect, secundum type|ASD 1|ASD1|atrial heart septal defect type 1|atrial septal defect 1|atrial septal defect, primum type|ASD 2 ICD10:Q21.1|DOID:0110106|UMLS:C1862389|Orphanet:1478|OMIM:108800 owl:Class MONDO:0023048 biolink:NamedThing ectodermal dysplasia neurosensory deafness tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857068|GARD:0002053 https://rarediseases.info.nih.gov/diseases/2053/ectodermal-dysplasia-neurosensory-deafness owl:Class UBERON:0010321 biolink:NamedThing skeletal element of eye region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013207 biolink:NamedThing corneal dystrophy, fuchs endothelial, 7 tmpaxzxjjyw_mondo_relaxed.owl corneal dystrophy, Fuchs endothelial, 7|FECD7|corneal dystrophy, Fuchs endothelial, late-onset|Fcd4 locus OMIM:613271|UMLS:C2750447|Orphanet:98974 owl:Class MONDO:0005321 biolink:NamedThing Fuchs' endothelial dystrophy Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity. tmpaxzxjjyw_mondo_relaxed.owl Endoepithelial corneal dystrophy|Fuchs' endothelial corneal dystrophy|Fuchs endothelial dystrophy|late hereditary endothelial dystrophy|Fuchs' corneal dystrophy|Fuchs endothelial corneal dystrophy|FCED|corneal dystrophy, Fuchs endothelial|FECD MESH:D005642|UMLS:CN207231|ICD10:H18.51|Orphanet:98974|OMIM:615523|UMLS:C0016781|ICD10:H18.5|OMIM:136800|OMIM:613270|OMIMPS:136800|OMIM:613269|SCTID:193839007|OMIM:613271|OMIM:610158|DOID:11555|OMIM:613267|OMIM:613268|EFO:0003946|NCIT:C84721 owl:Class MONDO:0003735 biolink:NamedThing central nervous system immature teratoma A variant of teratoma composed of incompletely differentiated components resembling fetal tissues. Even if the immature component is only a minor element of an otherwise differentiated teratoma, the tumor is still classified as immature. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl immature teratoma of central nervous system|immature teratoma|immature teratoma of the central nervous system|CNS immature teratoma|central nervous system immature teratoma|immature teratoma of the CNS|immature teratoma of CNS UMLS:C1332883|DOID:6019|NCIT:C7014|ONCOTREE:BIMT owl:Class CL:0002082 biolink:NamedThing type II cell of adrenal medulla A chromaffin cell of the adrenal medulla that produces epinephrine. tmpaxzxjjyw_mondo_relaxed.owl adremergic chromaffin cell|epiniphrine secreting cell of the adrenal medulla|adrenal secreting cell of the adrenal medulla FMA:69322 tmeehan 2010-07-14T09:41:42Z cell owl:Class HP:0009116 biolink:NamedThing Aplasia/Hypoplasia involving bones of the skull tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4024591 peter 2008-04-05T10:53:00Z human_phenotype owl:Class MONDO:0019971 biolink:NamedThing melanoma of soft tissue tmpaxzxjjyw_mondo_relaxed.owl clear cell sarcoma of the tendons and aponeuroses Orphanet:97338 owl:Class MONDO:0032881 biolink:NamedThing premature ovarian failure 16 tmpaxzxjjyw_mondo_relaxed.owl POF16|PREMATURE OVARIAN FAILURE 16 OMIM:618723 owl:Class MONDO:0001502 biolink:NamedThing retroperitoneum carcinoma A carcinoma that arises from epithelial cells of the retroperitoneal space. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of retroperitoneum|carcinoma of the retroperitoneum|carcinoma of retroperitoneal space|retroperitoneal cancer|retroperitoneal carcinoma|retroperitoneal space carcinoma UMLS:C0948749|NCIT:C7352|DOID:12342 owl:Class MONDO:0017172 biolink:NamedThing mucopolysaccharidosis type 6, slowly progressing tmpaxzxjjyw_mondo_relaxed.owl MPSVI, slowly progressing|arylsulfatase B deficiency, slowly progressing|MPS6, slowly progressing|mucopolysaccharidosis type VI, slowly progressing Orphanet:276223|UMLS:CN202601|ICD10:E76.2 owl:Class MONDO:0009661 biolink:NamedThing mucopolysaccharidosis type 6 Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. tmpaxzxjjyw_mondo_relaxed.owl Mucopoly-saccharidosis type VI|MPSVI|MPS VI - Maroteaux-Lamy syndrome|N-acetylgalactosamine-4-sulfatase deficiency|deficiency of N-acetylgalactosamine-4-sulfatase|arylsulfatase B deficiency|Maroteaux-Lamy syndrome|mucopolysaccharidosis type VI|Arsb deficiency|Maroteaux - Lamy syndrome|MPS 6|mucopolysaccharidosis VI|ASB deficiency|ARSB deficiency|MPS VI|MPS6|Maroteaux Lamy syndrome|Maroteaux-Lamy disease|N-acetylgalactosamine 4-sulfatase deficiency GARD:0007095|MESH:D009087|MedDRA:10056892|OMIM:253200|ICD10:E76.2|DOID:12800|UMLS:C0026709|NCIT:C61264|SCTID:69463008|Orphanet:583 owl:Class MONDO:0022454 biolink:NamedThing angiosarcoma of the scalp Angiosarcoma of the scalp is a rare cancer which most commonly affects the elderly. This condition is characterized by bruise-like lesions that escalate to elevated, nodular, or ulcerated tumors. Extensive local growth is common and metastasis to regional lymph nodes and to the lungs may occur. The cause of angiosarcoma of the scalp is unknown, although several associations have been reported, including lymphedema, prior radiation treatment, and environmental exposures. Treatment may include surgery, radiation and chemotherapy. tmpaxzxjjyw_mondo_relaxed.owl scalp angiosarcoma (disease)|angiosarcoma (disease) of scalp GARD:0005814 https://rarediseases.info.nih.gov/diseases/5814/angiosarcoma-of-the-scalp owl:Class MONDO:0001236 biolink:NamedThing appendiceal neoplasm A benign or malignant neoplasm involving the appendix. tmpaxzxjjyw_mondo_relaxed.owl tumor of the appendix|neoplasm of appendix|tumor of vermiform appendix|tumor of appendix|vermiform appendix neoplasm|vermiform appendix neoplasm (disease)|vermiform appendix tumor|neoplasm of the appendix|appendix tumor|appendix neoplasm|neoplasm of vermiform appendix EFO:0003880|NCIT:C4434|DOID:11240|UMLS:C0003614|MESH:D001063|SCTID:126846004 owl:Class GO:0001990 biolink:NamedThing regulation of systemic arterial blood pressure by hormone The process in which hormones modulate the force with which blood passes through the circulatory system. A hormone is one of a group of substances formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells, in the same organism, upon which they have a specific regulatory action. tmpaxzxjjyw_mondo_relaxed.owl hormonal regulation of blood pressure|blood pressure regulation by hormone|hormonal control of blood pressure owl:Class GO:0003044 biolink:NamedThing regulation of systemic arterial blood pressure mediated by a chemical signal The regulation of blood pressure mediated by biochemical signaling: hormonal, autocrine or paracrine. tmpaxzxjjyw_mondo_relaxed.owl blood pressure regulation mediated by a chemical signal owl:Class MONDO:0017321 biolink:NamedThing pili torti-onychodysplasia syndrome Pili torti-onychodysplasia is a form of ectodermal dysplasia characterised by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:2890|UMLS:C2931483 owl:Class MONDO:0003103 biolink:NamedThing nerve root neoplasm Benign and malignant neoplasms arising from one or more of the cervical, thoracic, lumbar, sacral, or coccygeal nerve roots. The majority of these tumors are benign. Clinical manifestations may include pain, weakness and loss of sensation along the course of the involved nerve root. Large tumors may cause spinal cord compression. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the nerve Root|nerve root neoplasm (disease)|neoplasm of nerve root|tumor of nerve root|nerve Root tumors|nerve root tumor|nerve Root tumor|tumor of nerve Root|neoplasms, nerve Root|nerve Root neoplasms|tumor of the nerve Root|neoplasm of nerve Root DOID:4698|NCIT:C5119|UMLS:C1334946 owl:Class MONDO:0003786 biolink:NamedThing childhood testicular choriocarcinoma A choriocarcinoma that arises from the testis during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood choriocarcinoma of the testis|pediatric choriocarcinoma of the testis|pediatric choriocarcinoma of testis|pediatric testicular choriocarcinoma|childhood choriocarcinoma of testis|childhood testicular choriocarcinoma|choriocarcinoma of testis of childhood UMLS:C1333006|NCIT:C6544|DOID:6160 owl:Class MONDO:0022953 biolink:NamedThing delta-1-pyrroline-5-carboxylate dehydrogenase deficiency A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity. tmpaxzxjjyw_mondo_relaxed.owl disorder of 1-pyrroline-5-carboxylate dehydrogenase activity|1-pyrroline-5-carboxylate dehydrogenase activity disease GARD:0001798 https://rarediseases.info.nih.gov/diseases/1798/delta-1-pyrroline-5-carboxylate-dehydrogenase-deficiency owl:Class MONDO:0002340 biolink:NamedThing tactile epilepsy tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4687|SCTID:230449001|UMLS:C0393724|DOID:2550 owl:Class MONDO:0009043 biolink:NamedThing generalized resistance to thyroid hormone A thyroid hormone resistance syndrome characterized by resistance in the pituitary gland and in most or all of the peripheral tissues. tmpaxzxjjyw_mondo_relaxed.owl Refetoff syndrome|GRTH|deafness-thyroid hormone resistance syndrome OMIM:188570|OMIM:274300|Orphanet:3221|ICD10:E07.8 owl:Class MONDO:0009238 biolink:NamedThing hereditary folate malabsorption Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders. tmpaxzxjjyw_mondo_relaxed.owl folate malabsorption, hereditary|congenital folate malabsorption|folic acid transport defect|congenital defect of folate absorption Orphanet:90045|DOID:0111678|SCTID:62578003|OMIM:229050|MESH:C562799|UMLS:C0342705|GARD:0012983|ICD10:D52.8 https://rarediseases.info.nih.gov/diseases/12983/hereditary-folate-malabsorption owl:Class UBERON:0001866 biolink:NamedThing sebum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009418 biolink:NamedThing hypogonadism with low-grade mental deficiency and microcephaly tmpaxzxjjyw_mondo_relaxed.owl hypogonadism with low-grade mental deficiency and microcephaly UMLS:C1855858|OMIM:241000|MESH:C565482 owl:Class UBERON:0012481 biolink:NamedThing cloacal epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015494 biolink:NamedThing isolated dystonia A dystonia (disease) that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl Pure dystonia|isolated dystonic disorder|nonsyndromic dystonic disorder|nonsyndromic dystonia (disease) Orphanet:156159|ICD10:G24.1 owl:Class HP:0002047 biolink:NamedThing Malignant hyperthermia Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine. tmpaxzxjjyw_mondo_relaxed.owl Malignant hyperthermia with anesthesia|Malignant hyperthermia with anaesthesia SNOMEDCT_US:405501007|SNOMEDCT_US:213026003|UMLS:C0024591|MSH:D008305 HP:0004896 human_phenotype owl:Class MONDO:0011348 biolink:NamedThing non-syndromic polydactyly A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits. tmpaxzxjjyw_mondo_relaxed.owl polydactylia|Extra digits|isolated polydactyly|supernumerary digits|isolated polydactyly (disease)|nonsyndromic polydactyly|nonsyndromic polydactyly (disease) ICD10:Q69.1|Orphanet:2913|GARD:0004410|ICD10:Q69.2|MedDRA:10036063|ICD10:Q69.9|OMIM:603596|ICD10:Q69.0 Editor note: Orphanet calls this Polydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy owl:Class MONDO:0019714 biolink:NamedThing non-syndromic polydactyly, syndactyly and/or hyperphalangy tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic polydactyly, syndactyly and/or hyperphalangy|isolated polydactyly, syndactyly and/or hyperphalangy Orphanet:93458 owl:Class MONDO:0006700 biolink:NamedThing choroid cancer A malignant neoplasm involving the optic choroid. tmpaxzxjjyw_mondo_relaxed.owl malignant choroid neoplasm|optic choroid cancer|malignant neoplasm of the choroid|malignant tumor of choroid|malignant choroid tumor|malignant neoplasm of optic choroid|choroidal tumor|malignant optic choroid neoplasm|malignant neoplasm of choroid|choroid neoplasm|cancer of optic choroid|malignant tumor of the choroid MedDRA:10057405|NCIT:C3566|NCIT:C2949|EFO:1000866|MESH:D002830|ICD9:190.6|SCTID:363466008|ICD10:C69.3|DOID:12759 owl:Class FOODON:03309823 biolink:NamedThing shrimp paste definition: Shrimp paste or shrimp sauce is a fermented condiment commonly used in Southeast Asian, Northeastern South Asian and Southern Chinese cuisines. tmpaxzxjjyw_mondo_relaxed.owl kapi ngapi terasi belacan belachan blachang mắm ruốc mắm tép mắm tôm bagoong alamang bagoong aramang haa1 zoeng3/haa1 gou1 hom ha/hae ko sidol|shrimp sauce SUBSET_SIREN:F9823 SIREN DB annotation: * has quality 'semisolid' (http://purl.obolibrary.org/obo/FOODON_03430144) * has quality 'not heat-treated' (http://purl.obolibrary.org/obo/FOODON_03440003) * derives from 'whole animal or most parts used' (http://purl.obolibrary.org/obo/FOODON_03420173) * formed as a result of 'fermentation/modification process, multiple component' (http://purl.obolibrary.org/obo/FOODON_03460128) * formed as a result of 'water removal process' (http://purl.obolibrary.org/obo/FOODON_03460138) * formed as a result of 'salted' (http://purl.obolibrary.org/obo/FOODON_03460173) * formed as a result of 'preservation by fermentation' (http://purl.obolibrary.org/obo/FOODON_03470104) wikipedia:Shrimp_pastse Need to set languages of synonyms (japanese/thai ?) http://langual.org subset_siren http://orcid.org/0000-0002-1816-4260 owl:Class FOODON:00001054 biolink:NamedThing fermented fish or seafood food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003417 biolink:NamedThing mesenchyme of soft palate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001288 biolink:NamedThing endometriosis of rectovaginal septum and vagina Endometriosis that affects the vagina. It is characterized by the presence of endometrial stroma with or without endometrial-type glands in the vagina. tmpaxzxjjyw_mondo_relaxed.owl vaginal endometriosis DOID:11431|ICD10:N80.4|SCTID:198253003|ICD9:617.4|UMLS:C0156346|NCIT:C128064 owl:Class UBERON:0003331 biolink:NamedThing submucosa of colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007213 biolink:NamedThing Ballard syndrome Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. tmpaxzxjjyw_mondo_relaxed.owl Pitt Williams brachydactyly|brachydactyly Ballard type|brachydactyly, Ballard type|brachydactyly, combined B and E types|brachydactyly combined B and E types|Pitt-Williams brachydactyly|brachydactyly types B and E combined|Ballard type brachydactyly ICD10:Q73.8|MESH:C537094|DOID:0110963|OMIM:112440|UMLS:C1862163|GARD:0000959|SCTID:722298001|Orphanet:93395 owl:Class MONDO:0019142 biolink:NamedThing inherited porphyria Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. tmpaxzxjjyw_mondo_relaxed.owl hereditary porphyria|porphyria|disorder of porphyrin metabolism|disorder of porphyrin and heme metabolism|Hematoporphyria|disorder of porphyrin and hem metabolism|Porphyrinopathy ICD10:E80.20|DOID:13268|SCTID:29094004|ICD10:E80.2|SCTID:371628009|ICD10:E80.1|MedDRA:10036181|NCIT:C97096|MedDRA:10061356|UMLS:C0032708|Orphanet:738|ICD9:277.1|MESH:D011164|GARD:0010353|ICD10:E80.0 Editor notes: see notes for porphyria cutanea tarda for a discussion of inherited vs sporadic https://rarediseases.info.nih.gov/diseases/10353/porphyria owl:Class MONDO:0017754 biolink:NamedThing inborn disorder of porphyrin metabolism An acquired metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process. tmpaxzxjjyw_mondo_relaxed.owl inborn porphyrin-containing compound metabolic process disorder|inborn error of porphyrin-containing compound metabolic process|inherited disorder of porphyrin metabolism|inborn disorder of porphyrin and haem metabolism|disorder of porphyrin and haem metabolism|rare inborn error of porphyrin-containing compound metabolic process ICD10:E80.7|ICD10:E80.0|Orphanet:309813|ICD10:E80.2|ICD10:E80.6|ICD10:E80.5|ICD10:E80.1|UMLS:C1275125|ICD10:E80.4|ICD10:E80.3|SCTID:403832004 Editor note: we follow ORDO and treat this as inborn. However, some form of porphyria (e.g PCT) may be acquired. owl:Class UBERON:0004699 biolink:NamedThing outflow tract endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030872 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 8 tmpaxzxjjyw_mondo_relaxed.owl frontotemporal dementia and/or amyotrophic lateral sclerosis 8|FTDALS8 OMIM:619132 owl:Class MONDO:0030923 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:105500 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0018422 biolink:NamedThing autosomal recessive spastic paraplegia type 70 Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities. tmpaxzxjjyw_mondo_relaxed.owl SPG70 UMLS:CN226129|ICD10:G11.4|Orphanet:401835 owl:Class MONDO:0008842 biolink:NamedThing ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia. tmpaxzxjjyw_mondo_relaxed.owl APTX oculomotor apraxia or related oculomotor disease|ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia|ataxia-oculomotor apraxia syndrome|cerebellar ataxia, early-onset, with hypoalbuminemia|ataxia-oculomotor apraxia 1|ataxia, adult-onset, with oculomotor apraxia|AOA1|ataxia-oculomotor apraxia type 1|early-onset cerebellar ataxia with hypoalbuminemia|oculomotor apraxia or related oculomotor disease caused by mutation in APTX|EAOH|early-onset ataxia with oculomotor apraxia and hypoalbuminemia|ataxia-telangiectasia-like syndrome|EOCA-HA|ataxia with oculomotor apraxia type 1 OMIM:208920|GARD:0009283|DOID:0050754|Orphanet:1168|ICD10:G11.3|UMLS:C1859598|MESH:C538013 Editor note: see PMID:17094036 for a discussion of relationship to CoQ10 deficiency. This is not a primary CoQ10 deficiency, owl:Class MONDO:0011457 biolink:NamedThing ataxia-telangiectasia-like disorder An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. tmpaxzxjjyw_mondo_relaxed.owl ATLD|ataxia - telangiectasia-like disorder|ataxia-telangiectasia-like disorder type 1|ataxia-telangiectasia-like disorder 1|ATLD1 Orphanet:251347|ICD9:334.8|MESH:C565779|ICD10:G11.3|UMLS:C1859598|UMLS:CN239583|OMIM:604391|SCTID:700058006|NCIT:C132224|OMIMPS:604391 owl:Class MONDO:0000514 biolink:NamedThing bone squamous cell carcinoma A squamous cell carcinoma that involves the bone tissue. tmpaxzxjjyw_mondo_relaxed.owl bone tissue squamous cell carcinoma DOID:0050896 owl:Class MONDO:0010788 biolink:NamedThing Leber hereditary optic neuropathy Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers. tmpaxzxjjyw_mondo_relaxed.owl Leber optic atrophy|Leber hereditary optic neuropathy|optic atrophy, Leber type|Leber's optic atrophy|Leber Hereditary optic atrophy|Leber’s disease|Leber's hereditary optic neuropathy|LHON Orphanet:104|GARD:0006870|OMIM:535000|UMLS:C0917796|SCTID:58610003|ICD10:H47.2|OMIM:308905|NCIT:C84808|DOID:705|MESH:D029242|ICD10:H47.22 owl:Class MONDO:0011725 biolink:NamedThing Crigler-Najjar syndrome type 2 Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1. tmpaxzxjjyw_mondo_relaxed.owl Arias syndrome|Crigler Najjar syndrome, type 2|bilirubin-UGT deficiency type 2|Crigler-Najjar syndrome, type II|Crigler-Najjar syndrome, type 2|bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2|hereditary unconjugated hyperbilirubinemia type 2|UGT deficiency type 2|hyperbilirubinemia, Crigler-Najjar type 2 Orphanet:205|SCTID:68067009|MedDRA:10011387|Orphanet:79235|OMIM:606785|MESH:C536213|GARD:0008683|UMLS:C2931132|ICD10:E80.5 https://rarediseases.info.nih.gov/diseases/8683/crigler-najjar-syndrome-type-2 owl:Class MONDO:0009044 biolink:NamedThing Crigler-Najjar syndrome Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2. tmpaxzxjjyw_mondo_relaxed.owl bilirubin-UGT deficiency|bilirubin UDP glucuronyl transferase deficiency|UGT deficiency|bilirubin uridinediphosphate glucuronosyltransferase deficiency|Crigler Najjar syndrome|hereditary unconjugated hyperbilirubinemia|Crigler-Najjar syndrome DOID:3803|MedDRA:10011386|MESH:D003414|UMLS:CN119421|NCIT:C84656|OMIM:606785|SCTID:8933000|UMLS:C0010324|SCTID:28259009|ICD10:E80.5|OMIM:218800|Orphanet:205 owl:Class GO:0099123 biolink:NamedThing somato-dendritic dopamine secretion The regulated release of dopamine from the somatodendritic compartment (cell body or dendrites) of a neuron. tmpaxzxjjyw_mondo_relaxed.owl STD dopamine release|somatodendritic dopamine release|STD DA release owl:Class GO:0051649 biolink:NamedThing establishment of localization in cell Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. tmpaxzxjjyw_mondo_relaxed.owl establishment of localization within cell|establishment of cellular localization|positioning within cell|establishment of localisation in cell|establishment of intracellular localization owl:Class UBERON:0015052 biolink:NamedThing femur endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018919 biolink:NamedThing McCune-Albright syndrome McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafC)-au-lait skin spots, and precocious puberty (PP). tmpaxzxjjyw_mondo_relaxed.owl POFD|Albright's disease|PFD|gonadotropin-independent female-limited sexual precocity|polyostotic fibrous dysplasia|McCune Albright syndrome|MAS ICD10:Q78.1|Orphanet:562|DOID:1858|GARD:0006995|OMIM:174800|MESH:D005357|UMLS:C0016065|SCTID:726029005|NCIT:C48627|UMLS:C0242292 owl:Class HGNC:2501 biolink:NamedThing CTH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044696 biolink:NamedThing early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome tmpaxzxjjyw_mondo_relaxed.owl encephalopathy, progressive, early-onset, with brain atrophy and spasticity|PEBAS Orphanet:500144|OMIM:617669|UMLS:CN474476 owl:Class HP:0000492 biolink:NamedThing Abnormal eyelid morphology An abnormality of the eyelids. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the eyelids|Abnormality of the eyelid UMLS:C4021803 HP:0000285 human_phenotype owl:Class HP:0030669 biolink:NamedThing Abnormal ocular adnexa morphology A structural anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4073120 human_phenotype owl:Class HGNC:4805 biolink:NamedThing HAGH tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0033004 biolink:NamedThing negative regulation of mast cell activation Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007207 biolink:NamedThing Böök syndrome Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. tmpaxzxjjyw_mondo_relaxed.owl PHC syndrome|Böök syndrome|premolar aplasia, hyperhidrosis, and canities prematura|book syndrome UMLS:C0457014|SCTID:722296002|OMIM:112300|MESH:C562993|Orphanet:1262|ICD10:Q82.4|GARD:0000932 owl:Class CL:0002274 biolink:NamedThing histamine secreting cell A cell type that secretes histamine. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-09-10T03:04:42Z cell owl:Class CL:0000785 biolink:NamedThing mature B cell A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen. tmpaxzxjjyw_mondo_relaxed.owl mature B-cell|mature B-lymphocyte|mature B lymphocyte Mature B cells are also reportedly CD10-negative, CD19-positive, CD22-positive, CD34-negative, CD48-positive, CD79a-positive, CD84-positive, CD127-negative, CD352-positive, RAG-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Transcription factors expressed: Pax5-positive. cell owl:Class MONDO:0012798 biolink:NamedThing deafness, unilateral, with delayed endolymphatic hydrops tmpaxzxjjyw_mondo_relaxed.owl deafness, unilateral, with delayed endolymphatic hydrops UMLS:C2677512|MESH:C567420|OMIM:612097 owl:Class MONDO:0006219 biolink:NamedThing gallbladder small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gallbladder. It is characterized by the presence of malignant small cells. tmpaxzxjjyw_mondo_relaxed.owl gallbladder small cell NEC|small cell carcinoma of gallbladder|gallbladder small cell carcinoma|gallbladder Oat cell carcinoma|small cell carcinoma of the gallbladder|gallbladder small cell neuroendocrine carcinoma|Oat cell carcinoma of gallbladder|gall bladder small cell carcinoma|small cell carcinoma of gall bladder|Oat cell carcinoma of the gallbladder NCIT:C6763|DOID:7133|EFO:1000266|UMLS:C1333759 owl:Class MONDO:0004677 biolink:NamedThing tinea nigra A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. tmpaxzxjjyw_mondo_relaxed.owl microsporosis nigra|Tinea palmaris nigra|keratomycosis nigricans|infection by Cladosporium werneckii DOID:8912|SCTID:183342005|UMLS:C0152067|ICD9:111.1|ICD10:B36.1 owl:Class FOODON:00001109 biolink:NamedThing caprine dairy food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001107 biolink:NamedThing bovine dairy food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015736 biolink:NamedThing intermediate nemaline myopathy Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression. tmpaxzxjjyw_mondo_relaxed.owl Intermediate congenital nemaline myopathy|Intermediate congenital NM OMIM:615731|Orphanet:171433|OMIM:161800|OMIM:609284|ICD10:G71.2|OMIM:256030|GARD:0012823 owl:Class MONDO:0017303 biolink:NamedThing qualitative or quantitative defects of tropomyosin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:284790 owl:Class MONDO:0007335 biolink:NamedThing orofacial cleft 1 Cleft lip with or without cleft palate mapped to chromosome 6p24. tmpaxzxjjyw_mondo_relaxed.owl orofacial cleft, nonsyndromic|cleft lip with or without cleft palate, nonsyndromic, 1|OFC1|orofacial cleft 1|cleft Lip/palate, nonsyndromic UMLS:C1861537|DOID:0080395|MESH:C566121|NCIT:C124838|Orphanet:1991|OMIM:119530 owl:Class MONDO:0700023 biolink:NamedThing chromosome 16 disorder Chromosomal disorder in which chromosome 16 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0010168 biolink:NamedThing Usher syndrome type 1 A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa. tmpaxzxjjyw_mondo_relaxed.owl Usher syndrome type 1|USHER syndrome, type I|Usher syndrome, type I, French variety, formerly|Usher syndrome, type I, French variety|Usher syndrome, type Ia, formerly|Usher syndrome, type 1B|USH1|retinitis pigmentosa and congenital deafness|Usher syndrome, type 1|Usher syndrome, type 1A|US1|Usher syndrome, type Ia|USH1A OMIM:602097|Orphanet:886|GARD:0005435|OMIM:614869|SCTID:232057003|OMIM:606943|OMIM:602083|OMIM:612632|OMIM:276904|OMIM:276900|OMIM:601067|ICD10:H35.5|NCIT:C126327|Orphanet:231169|GARD:0005436|DOID:0110826|OMIM:614990 owl:Class MONDO:0018596 biolink:NamedThing systemic polyarteritis nodosa Systemic polyarteritis nodosa (PAN) is a chronic systemic necrotizingvasculitis of adults and childrenaffecting small- and medium-sized vessels and characterized by formation of microaneurysms leading to serious generalized disease and multi-organ involvement. tmpaxzxjjyw_mondo_relaxed.owl systemic PAN|systemic periarteritis nodosa UMLS:CN242146|Orphanet:439762|ICD10:M30.0|UMLS:C0031036 owl:Class MONDO:0013144 biolink:NamedThing antithrombin III deficiency A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism. tmpaxzxjjyw_mondo_relaxed.owl AT3D|AT III deficiency|antithrombin III deficiency|thrombophilia due to antithrombin III deficiency|hereditary antithrombin deficiency|congenital antithrombin III deficiency|antithrombin 3 deficiency|hereditary thrombophilia due to congenital antithrombin 3 deficiency|hereditary thrombophilia due to congenital antithrombin deficiency|inherited antithrombin deficiency|thrombophilia due to antithrombin 3 deficiency|congenital AT-III deficiency UMLS:C0272375|OMIM:613118|ICD10:D68.59|Orphanet:82|DOID:3755|NCIT:C98815|MESH:D020152|ICD9:286.9|ICD10:D68.5|GARD:0006148|SCTID:36351005 owl:Class MONDO:0018374 biolink:NamedThing secondary avascular necrosis tmpaxzxjjyw_mondo_relaxed.owl secondary AVN ICD10:M87.2|Orphanet:399169|ICD10:M87.3|ICD10:M87.1 owl:Class UBERON:0004183 biolink:NamedThing placental labyrinth blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016424 biolink:NamedThing progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is an extremely rare disorder described in one family to date that is characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy. tmpaxzxjjyw_mondo_relaxed.owl progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome|progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome|progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome Orphanet:228012|UMLS:CN201381|OMIM:606346 Editor note: Orphanet xrefs OMIM:606346 which is DFNA22, check this owl:Class MONDO:0003501 biolink:NamedThing external ear squamous cell carcinoma A squamous cell carcinoma that arises from the skin of the external ear. tmpaxzxjjyw_mondo_relaxed.owl external ear squamous cell carcinoma|squamous cell carcinoma of the external Ear|epidermoid carcinoma of the external Ear|external Ear squamous cell carcinoma|squamous cell carcinoma of external Ear|squamous cell carcinoma of external ear|epidermoid carcinoma of external Ear|external Ear epidermoid carcinoma|epidermoid carcinoma of the external ear UMLS:C1333494|NCIT:C6083|DOID:5538 owl:Class MONDO:0009656 biolink:NamedThing Sanfilippo syndrome type B A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. tmpaxzxjjyw_mondo_relaxed.owl Sanfilippo B|mucopolysaccharidosis type 3B|MPS III B|N-acetyl-alpha-glucosaminidase deficiency|mucopolysaccharidosis type IIIB|MPS3B|MPS 3B|mucopolysaccharidosis, type IIIB|mucopolysaccharidosis, type 3B|MPSIIIB|Mucopoly-saccharidosis type 3B|NAGLU deficiency|N-Acetyl-Alpha-D-glucosaminidase deficiency|Sanfilippo syndrome B|MPS IIIB Orphanet:581|ICD10:E76.2|DOID:0111394|SCTID:59990008|NCIT:C84898|Orphanet:79270|OMIM:252920|UMLS:C0086648|GARD:0007072 owl:Class MONDO:0018937 biolink:NamedThing mucopolysaccharidosis type 3 Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration. tmpaxzxjjyw_mondo_relaxed.owl Sanfilippo disease|mucopolysaccharidosis type III|N-acetyl-alpha-D-glucosaminidase deficiency|NAGLU deficiency|mucopolysaccharidosis, MPS-III-B|Sanfilippo syndrome B|mucopolysaccharidosis type IIIB|Sanfilippo syndrome A|MPS IIIC - Sanfilippo syndrome C|Sanfilippo syndrome|Sanfilippo's syndrome|mucopolysaccharidosis III|MPS3|heparan sulfate sulfatase deficiency|MPSIII|Mucopoly-saccharidosis type 3|N-sulphoglucosamine sulphohydrolase deficiency|mucopolysaccharidosis type IIIA|MPS IIID - Sanfilippo syndrome D|MPS IIIB - Sanfilippo syndrome B|mucopolysaccharidosis, MPS-III|MPS IIIA - Sanfilippo syndrome A UMLS:C0026706|ICD10:E76.22|NCIT:C84897|OMIM:252930|MedDRA:10056890|DOID:12801|NCIT:C84898|SCTID:41572006|OMIM:252900|NCIT:C61262|OMIM:252920|UMLS:C0086647|UMLS:C0086648|UMLS:CN205330|SCTID:88393000|ICD10:E76.2|GARD:0003807|OMIM:252940|Orphanet:581 owl:Class GO:0140244 biolink:NamedThing regulation of translation at presynapse Any process that regulates translation occurring at the presynapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903380 biolink:NamedThing positive regulation of mitotic chromosome condensation Any process that activates or increases the frequency, rate or extent of mitotic chromosome condensation. tmpaxzxjjyw_mondo_relaxed.owl up regulation of mitotic chromosome condensation|upregulation of mitotic chromosome condensation|up-regulation of mitotic chromosome condensation|activation of mitotic chromosome condensation owl:Class GO:1903379 biolink:NamedThing regulation of mitotic chromosome condensation Any process that modulates the frequency, rate or extent of mitotic chromosome condensation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0022357 biolink:NamedThing mesentery of ileum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011914 biolink:NamedThing hypotrichosis-lymphedema-telangiectasia syndrome tmpaxzxjjyw_mondo_relaxed.owl hypotrichosis-lymphedema-telangiectasia syndrome|HLTS MESH:C564327|UMLS:C1843004|Orphanet:69735|DOID:0111361|OMIM:607823 owl:Class MONDO:0007670 biolink:NamedThing hypotrichosis-lymphedema-telangiectasia syndrome (grouping) Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. tmpaxzxjjyw_mondo_relaxed.owl hypotrichosis lymphedema telangiectasia syndrome Orphanet:69735|GARD:0012827|OMIM:607823|OMIM:137940 owl:Class NCBITaxon:5878 biolink:NamedThing Ciliophora tmpaxzxjjyw_mondo_relaxed.owl ciliates|Ciliata GC_ID:6 ncbi_taxonomy owl:Class GO:0002823 biolink:NamedThing negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004924 biolink:NamedThing submucosa of pharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001099 biolink:NamedThing lactocele Single or multiple, milk-containing nodules in the breast. It is caused by obstruction of the breast ducts during lactation. Needle aspiration of the milk is the treatment of choice. tmpaxzxjjyw_mondo_relaxed.owl lacteal cyst|Galactocoele|galactocele NCIT:C3515|ICD10:N64.89|ICD9:611.5|MESH:C535998|SCTID:42385006|GARD:0008401|DOID:10686 owl:Class HGNC:29685 biolink:NamedThing IARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1783270 biolink:NamedThing FCB group tmpaxzxjjyw_mondo_relaxed.owl Fibrobacteres/Acidobacteria group|Fibrobacteres-Chlorobi-Bacteroidetes superphylum|Fibrobacter/Acidobacteria group GC_ID:11 NCBITaxon:131550 ncbi_taxonomy owl:Class MONDO:0005605 biolink:NamedThing transitional cell papilloma A benign papillary neoplasm composed of transitional cells which show preservation of the nuclear polarity. tmpaxzxjjyw_mondo_relaxed.owl transitional cell papilloma NOS (morphologic abnormality)|transitional cell papilloma, benign|transitional cell papilloma|transitional papilloma|papilloma, transitional cell, benign|transitional cell papilloma, benign (morphologic abnormality) NCIT:C4115|EFO:0006497|UMLS:C0334266|ICDO:8120/0|DOID:2670 owl:Class MONDO:0002363 biolink:NamedThing papilloma A benign epithelial neoplasm that projects above the surrounding epithelial surface and consists of villous or arborescent outgrowths of fibrovascular stroma. tmpaxzxjjyw_mondo_relaxed.owl papilloma (except papilloma of bladder M-81201) (morphologic abnormality)|papilloma, benign|papilloma|papillomatosis NOS (morphologic abnormality) UMLS:C0030354|NCIT:C7440|DOID:2615|NCIT:C3713|MESH:D010212|ICDO:8050/0|SCTID:711329002 owl:Class UBERON:5101463 biolink:NamedThing manual digit 1 digitopodial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001309 biolink:NamedThing internal iliac artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005609 biolink:NamedThing iliac artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017110 biolink:NamedThing isolated Dandy-Walker malformation with hydrocephalus tmpaxzxjjyw_mondo_relaxed.owl Orphanet:269212|ICD10:Q03.1 owl:Class MONDO:0009072 biolink:NamedThing Dandy-Walker syndrome Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle, presenting early in life with hydrocephalus, bulging occiput and posterior fossa signs such as cranial nerve palsies, nystagmus and ataxia. tmpaxzxjjyw_mondo_relaxed.owl Dandy-Walker complex|isolated Dandy-Walker malformation|Dandy-Walker syndrome or malformation (type of DW complex)|DW complex|Dandy-Walker variant (type of DW complex)|DWS|atresia of foramina of Magendie and Luschka|mega cisterna magna (type of DW complex)|Dandy-Walker malformation|Dandy-Walker syndrome DOID:2785|MedDRA:10048411|OMIM:220200|UMLS:C0010964|NCIT:C75012|EFO:1000890|MESH:D003616|Orphanet:217|ICD10:Q03.1|SCTID:14447001|GARD:0006242 owl:Class MONDO:0019317 biolink:NamedThing follicular atrophoderma-basal cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:79459|UMLS:CN205972|ICD10:L98.8 owl:Class MONDO:0010535 biolink:NamedThing Bazex-Dupre-Christol syndrome Bazex-Dupre-Christol syndrome is a rare genodermatosis (hereditary skin disease) with a predisposition to early-onset basal cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl Bazex syndrome|acrokeratosis paraneoplastica of Bazex|BDCS|acrokeratosis of Bazex|Bazex-Dupré-Christol syndrome|acrokeratosis paraneoplastica|follicular atrophoderma-basal cell carcinoma syndrome|Bazex-Dupre-Christol syndrome|follicular atrophoderma and basal cell carcinomas|follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome|BZX SCTID:254820002|OMIM:301845|UMLS:C0406355|SCTID:238640007|Orphanet:113|Orphanet:166113|GARD:0000838|UMLS:CN200039|ICD9:757.39|ICD10:L98.8 owl:Class UBERON:0005565 biolink:NamedThing facio-acoustic neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015641 biolink:NamedThing benign infantile focal epilepsy with midline spikes and wave during sleep Benign infantile focal epilepsy with midline spikes and waves during sleep is a rare infantile epilepsy syndrome characterized by age of onset between 4 and 30 months, partial sporadic seizures presenting with motion arrest, staring, cyanosis and, less common, automatisms and lateralizing signs, and characteristic interictal sleep EEG changes consisting of a spike followed by a bell-shaped slow wave in the midline region. tmpaxzxjjyw_mondo_relaxed.owl BIMSE|benign infantile focal epilepsy with midline spikes and waves during sleep Orphanet:166308 owl:Class MONDO:0060761 biolink:NamedThing neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum|NEDEHCC OMIM:618090 owl:Class MONDO:0019028 biolink:NamedThing amoebiasis due to Entamoeba histolytica A parasitic disease caused by the protozoa, Entamoeba histolytica, mainly occurring in tropical regions after the ingestion of an amoebic cyst, and resulting in clinical manifestations that may range from an asymptomatic state to amoebic colitis (violent abdominal pain, a painful contracted feeling around the anal sphincter, blood and mucus in the stools but without the presence of fever), or amoebic liver abscesses (fever, chills, abdominal pain, weight loss, hepatomegaly) that can be fatal if not immediately treated. Extraintestinal involvement elsewhere (i.e. thoracic, hepatic) is extremely rare. tmpaxzxjjyw_mondo_relaxed.owl ICD10:A06.2|ICD10:A06.8|ICD10:A06.0|ICD10:A06.9|ICD10:A06.7|ICD10:A06.1|Orphanet:67|ICD10:A06.5|ICD10:A06.4|ICD10:A06.6|MESH:C531613|ICD10:A06.3|UMLS:C2930799 owl:Class MONDO:0007698 biolink:NamedThing hand-foot-genital syndrome Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects. tmpaxzxjjyw_mondo_relaxed.owl hand-foot-genital syndrome|hand foot genital syndrome|HFU syndrome|HFGS|hand foot uterus syndrome|HFG|hand-foot-uterus syndrome|HFG syndrome ICD10:Q51.2|Orphanet:2438|UMLS:C1841679|MedDRA:10072361|GARD:0002594|ICD9:759.89|SCTID:702425002|OMIM:140000|MESH:C535627|DOID:0060739 owl:Class MONDO:0008806 biolink:NamedThing Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991. tmpaxzxjjyw_mondo_relaxed.owl Aphalangy of the hands and feet, hemivertebrae, and visceral malformations|APHALANGY with hemivertebrae|Johnson-Munson syndrome|Johnson Munson syndrome GARD:0003051|OMIM:207620|Orphanet:1112|UMLS:C1859754|MESH:C535881|SCTID:733118006|ICD10:Q87.8 owl:Class MONDO:0016990 biolink:NamedThing acquired prothrombin deficiency An instance of prothrombin deficiency that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired factor II deficiency|acquired hypoprothrombinemia|acquired prothrombin deficiency|hypoprothrombinemia, acquired SCTID:4152002|ICD10:D68.4|NCIT:C131622|UMLS:C0392610|MESH:C538174|Orphanet:26348|GARD:0000475 owl:Class MONDO:0024307 biolink:NamedThing prothrombin deficiency tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002624 biolink:NamedThing Abnormal venous morphology An anomaly of vein. tmpaxzxjjyw_mondo_relaxed.owl Venous abnormality|Abnormal vein UMLS:C0241665 human_phenotype owl:Class MONDO:0013690 biolink:NamedThing Pitt-Hopkins-like syndrome 2 Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene. tmpaxzxjjyw_mondo_relaxed.owl Pitt-Hopkins-like syndrome caused by mutation in NRXN1|Pitt-Hopkins-like syndrome 2|NRXN1 Pitt-Hopkins-like syndrome|PTHSL2|Pitt-Hopkins-like syndrome type 2 DOID:0111332|Orphanet:221150|UMLS:C3280479|OMIM:614325 owl:Class MONDO:0021495 biolink:NamedThing benign neoplasm of sublingual gland A benign neoplasm that involves the sublingual gland. tmpaxzxjjyw_mondo_relaxed.owl benign sublingual gland neoplasm|benign neoplasm of the sublingual gland|benign tumor of the sublingual gland|benign sublingual gland tumor|sublingual gland benign neoplasm|benign tumor of sublingual gland SCTID:92413008|NCIT:C4601|UMLS:C0347208 owl:Class UBERON:0004518 biolink:NamedThing muscle of vertebral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011576 biolink:NamedThing familial hyperaldosteronism type II Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism. tmpaxzxjjyw_mondo_relaxed.owl familial adrenal adenoma|familial hyperaldosteronism type 2|HALD2|FH 2|FH2|hyperaldosteronism, familial, type II|FH-II|FHII ICD10:E26.0|SCTID:703233008|Orphanet:404|MESH:C565312|UMLS:C1854107|GARD:0002789|UMLS:C3839212|OMIM:605635|NCIT:C127162 owl:Class MONDO:0036591 biolink:NamedThing adrenal cortex neoplasm A benign or malignant (primary or metastatic) neoplasm affecting the adrenal cortex. (NCI05) tmpaxzxjjyw_mondo_relaxed.owl adrenal cortex neoplasm|adrenocortical tumor|neoplasm of adrenal cortex|adrenal cortex tumor|adrenocortical neoplasm|tumor of adrenal cortex NCIT:C2858 owl:Class HGNC:10969 biolink:NamedThing SLC22A5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015592 biolink:NamedThing limbic encephalitis with LGI1 antibodies Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported. tmpaxzxjjyw_mondo_relaxed.owl limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies ICD10:G04.8|Orphanet:163908|SCTID:763794005|ICD10:G13.1 owl:Class MONDO:0019618 biolink:NamedThing Sheehan syndrome An uncommon cause of hypopituitarism seen after severe postpartum hemorrhaging. Prolonged hypovolemia leads to ischemic necrosis of the pituitary. Clinical signs typically present in the puerperium and include failure to begin lactation, fatigue, hypotension and eventual amenorrhea. Clinical course is usually mild, however extreme cases may progress to adrenal failure. Prognosis is most favorable when hormone replacement is initiated soon after symptom onset. tmpaxzxjjyw_mondo_relaxed.owl postpartum pituitary necrosis|postpartum panhypopituitary syndrome|Sheehan's syndrome|postpartum panhypopituitarism|postpartum hypopituitarism NCIT:C35300|UMLS:C0242342|ICD10:E23.0|DOID:9476|MedDRA:10036297|GARD:0007630|SCTID:290653008|Orphanet:91355 owl:Class MONDO:0019841 biolink:NamedThing pituitary hormone defiency from vascular origin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:95611|ICD10:E23.0 owl:Class GO:2000463 biolink:NamedThing positive regulation of excitatory postsynaptic potential Any process that enhances the establishment or increases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of excitatory post-synaptic membrane potential|positive regulation of EPSP owl:Class MONDO:0006391 biolink:NamedThing pyloric gland adenoma A rare neoplastic polyp that arises from the stomach. It is characterized by the presence of gastric epithelial differentiation and pyloric gland-type tubular structures, which are closely packed. tmpaxzxjjyw_mondo_relaxed.owl pyloric gastric gland adenoma|pyloric gland adenoma NCIT:C43526|UMLS:C1709780|EFO:1000501 owl:Class MONDO:0008939 biolink:NamedThing isolated cerebellar hypoplasia/agenesis Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures. tmpaxzxjjyw_mondo_relaxed.owl isolated cerebellar agenesis|Chiari IV malformation|cerebellar hypoplasia|Chiari 4 malformation|subtotal absence of cerebellum|near total absence of cerebellum|congenital cerebellar Hypoplasia ICD10:Q04.3|MESH:C562568|SCTID:16026008|MedDRA:10008033|DOID:0070338|Orphanet:2246|NCIT:C98890|OMIM:213000|GARD:0001194|Orphanet:1398 owl:Class MONDO:0009814 biolink:NamedThing osteopenia-intellectual disability-sparse hair syndrome Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. tmpaxzxjjyw_mondo_relaxed.owl osteopenia intellectual disability sparse hair|osteopenia and sparse hair|Kaler Garrity Stern syndrome|Kaler-Garrity-Stern syndrome|osteopenia mental retardation sparse hair SCTID:732954002|UMLS:C1850140|OMIM:259690|GARD:0000354|MESH:C537706|Orphanet:2324 owl:Class UBERON:0006264 biolink:NamedThing mouth-foregut junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2457 biolink:NamedThing CSNK2A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25018 biolink:NamedThing TMEM216 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009351 biolink:NamedThing homocarnosinosis Homocarnosinosis is a metabolic defect characterised by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl homocarnosinosis|Homocarnosinase deficiency ICD9:277.89|OMIM:236130|MESH:C535328|GARD:0002730|SCTID:61764000|Orphanet:2168|UMLS:C0268632|ICD10:E72.8|UMLS:C3495554|DOID:0060177 owl:Class MONDO:0019232 biolink:NamedThing inborn disorder of peptide metabolism tmpaxzxjjyw_mondo_relaxed.owl disorder of peptide metabolism UMLS:CN227597|Orphanet:79187 owl:Class MONDO:0017806 biolink:NamedThing 15q overgrowth syndrome 15q overgrowth syndrome is a rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:314585|ICD10:Q87.3|UMLS:CN203769|OMIM:614846 owl:Class HP:0010280 biolink:NamedThing Stomatitis Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. tmpaxzxjjyw_mondo_relaxed.owl Gingivostomatitis|Inflammation of the mouth UMLS:C0038362|UMLS:C0149704|MSH:D013280|SNOMEDCT_US:61170000|SNOMEDCT_US:20607006 peter 2009-07-12T09:48:56Z human_phenotype owl:Class HP:0012649 biolink:NamedThing Increased inflammatory response A abnormal increase in the inflammatory response to injury or infection. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4022803 peter 2014-02-01T01:29:58Z human_phenotype owl:Class MONDO:0002436 biolink:NamedThing nasal disorder A disease involving the nose. tmpaxzxjjyw_mondo_relaxed.owl nose disease|disorder of the nose|nose disease or disorder|disease of nose|disorder of nose|nasal disorder|disease or disorder of nose MESH:D009668|DOID:2825|UMLS:C0028432|SCTID:89488007|ICD9:478.19 owl:Class GO:0051176 biolink:NamedThing positive regulation of sulfur metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur or compounds containing sulfur. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of sulfur metabolic process|positive regulation of sulfur metabolism|positive regulation of sulphur metabolic process|positive regulation of sulphur metabolism|upregulation of sulfur metabolic process|activation of sulfur metabolic process|stimulation of sulfur metabolic process|up regulation of sulfur metabolic process owl:Class MONDO:0001987 biolink:NamedThing senile degeneration of brain tmpaxzxjjyw_mondo_relaxed.owl Senile brain degen. ICD9:331.2|DOID:14524|UMLS:C0154669|SCTID:45864009 owl:Class MONDO:0019827 biolink:NamedThing disease associated with non-acquired combined pituitary hormone deficiency tmpaxzxjjyw_mondo_relaxed.owl secondary non-acquired combined pituitary hormone deficiency 2022-03-01 Orphanet:95495|UMLS:CN206775 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: non-acquired combined pituitary hormone deficiency' MONDO_0018762 owl:Class UBERON:0007177 biolink:NamedThing lamina propria of mucosa of colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005493 biolink:NamedThing delayed encephalopathy after acute carbon monoxide poisoning Anoxic encephalopathy resulting from acute CO intoxication, developing within 2-6 weeks of the poisoning event tmpaxzxjjyw_mondo_relaxed.owl EFO:0005534 owl:Class MONDO:0016065 biolink:NamedThing cleft palate-short stature-vertebral anomalies syndrome Cleft palate- short stature- vertebral anomalies is a multiple congenital anomalies syndrome described in a father and son characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck, vertebral anomalies and intellectual disability. The transmission is presumed to be autosomal dominant. There have been no further descriptions in the literature since 1993. tmpaxzxjjyw_mondo_relaxed.owl cleft palate short stature vertebral anomalies|Mathieu-De Broca-Bony syndrome ICD10:Q87.0|Orphanet:2015|SCTID:719466009|GARD:0001392|UMLS:CN200784 https://rarediseases.info.nih.gov/diseases/1392/cleft-palate-short-stature-vertebral-anomalies owl:Class UBERON:0010557 biolink:NamedThing pedal digit 1 metatarsal cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015037 biolink:NamedThing pedal digit 1 metatarsal endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001928 biolink:NamedThing Abnormality of coagulation An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. tmpaxzxjjyw_mondo_relaxed.owl Haemorrhagic disorders|Coagulation abnormalities|Coagulation abnormality|Blood coagulation disorder|Abnormal blood coagulation studies SNOMEDCT_US:64779008|UMLS:C1846821|UMLS:C0005779|SNOMEDCT_US:362970003|MSH:D001778|UMLS:C0019087|MSH:D006474 human_phenotype owl:Class HP:0001871 biolink:NamedThing Abnormality of blood and blood-forming tissues An abnormality of the hematopoietic system. tmpaxzxjjyw_mondo_relaxed.owl Hematological abnormality|Haematological abnormality|Abnormality of blood and blood-forming tissues|Hematologic disease|Abnormality of the haematopoietic system|Abnormality of the hematopoietic system SNOMEDCT_US:191124002|UMLS:C0018939|SNOMEDCT_US:34093004|UMLS:C4020864|MSH:D006402|UMLS:C0850715 The hematopoietic system comprises the organs that are involved in the production of blood, primarily the bone marrow, spleen, tonsils, and lymph nodes. HP:0003135 human_phenotype owl:Class UBERON:0004790 biolink:NamedThing skin mucous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MAXO:0000058 biolink:NamedThing pharmacotherapy Use of a substance introduced into a living organism with therapeutic or diagnostic purpose. tmpaxzxjjyw_mondo_relaxed.owl pharmacological treatment|drug treatment|pharmaceutical drug|drug therapy|pharmaceutical treatment|medication therapy|treatment with drug owl:Class GO:0100002 biolink:NamedThing negative regulation of protein kinase activity by protein phosphorylation Any protein phosphorylation process that negatively regulates protein kinase activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005149 biolink:NamedThing pulmonary hypertension Increased pressure within the pulmonary circulation due to lung or heart disorder. tmpaxzxjjyw_mondo_relaxed.owl OMIM:615371|NCIT:C3120|MESH:D006976|DOID:6432|SCTID:70995007|EFO:0001361|ICD10:I27.2 owl:Class GO:0032278 biolink:NamedThing positive regulation of gonadotropin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of a gonadotropin. tmpaxzxjjyw_mondo_relaxed.owl stimulation of gonadotropin secretion|up regulation of gonadotropin secretion|up-regulation of gonadotropin secretion|positive regulation of gonadotrophin secretion|activation of gonadotropin secretion|upregulation of gonadotropin secretion owl:Class UBERON:0035529 biolink:NamedThing left common iliac artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001191 biolink:NamedThing common iliac artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012553 biolink:NamedThing cerebrooculofacioskeletal syndrome 2 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC2 gene. tmpaxzxjjyw_mondo_relaxed.owl cerebrooculofacioskeletal syndrome type 2|cerebrooculofacioskeletal syndrome 2|ERCC2 COFS syndrome|COFS syndrome caused by mutation in ERCC2|COFS2 UMLS:C1853102|Orphanet:191|Orphanet:1466|OMIM:610756|MESH:C565185 owl:Class MONDO:0008926 biolink:NamedThing COFS syndrome Cerebrooculofacioskeletal (COFS) syndrome is a rare genetic disorder, belonging to a family of diseases of DNA repair, characterized by a severe sensorineural involvement. tmpaxzxjjyw_mondo_relaxed.owl Pena-Shokeir syndrome type 2|cerebrooculofacioskeletal syndrome|COFS|cerebro-oculo-facio-skeletal syndrome ICD10:Q87.1|Orphanet:1466|UMLS:C0220722|OMIMPS:214150|OMIM:610756|NCIT:C3817|OMIM:610758|OMIM:278780|OMIM:616570|GARD:0006027|OMIM:214150 owl:Class MONDO:0044877 biolink:NamedThing paraneoplastic cerebellar degeneration A rare, immune-mediated disorder characterized by cerebellar degeneration due to the presence of an often undetected malignancy (usually carcinoma or lymphoma) in an anatomic site other than the cerebellum. Signs and symptoms include progressive ataxia, dysarthria, and nystagmus. tmpaxzxjjyw_mondo_relaxed.owl paraneoplastic cerebellar Degeneration NCIT:C4685 owl:Class MONDO:0022687 biolink:NamedThing cerebellar degeneration Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders. tmpaxzxjjyw_mondo_relaxed.owl cerebellar degeneration|cerebral degeneration|neurodegenerative disease of cerebellum|cerebellum neurodegenerative disease|Brain degeneration|cerebellar Degeneration UMLS:C0262404|SCTID:95646004|ICD9:331.9|SCTID:418143002|NCIT:C84624|DOID:1443|UMLS:C0154671|GARD:0006019 https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration owl:Class MONDO:0003255 biolink:NamedThing mediastinal granular cell myoblastoma An exceptionally rare, generally benign, granular cell tumor that arises from the mediastinum. All the reported cases were located in the posterior mediastinum. tmpaxzxjjyw_mondo_relaxed.owl granular cell tumor of the mediastinum|mediastinal granular cell myoblastoma|granular cell myoblastoma of the mediastinum|mediastinal granular cell tumor|granular cell myoblastoma of mediastinum|granular cell neoplasm of the mediastinum|granular cell neoplasm of mediastinum|granular cell tumor of mediastinum|mediastinal granular cell neoplasm|mediastinum granular cell tumor UMLS:C1334656|DOID:5046|NCIT:C6601 owl:Class MONDO:0006235 biolink:NamedThing granular cell tumor An unusual benign or malignant neoplasm characterized by the presence of neoplastic large polygonal cells with granular, eosinophilic cytoplasm which contains abundant lysosomes. It was originally thought to be a tumor originating from muscle cells and was named granular cell myoblastoma. Subsequent studies have suggested a derivation from Schwann cells. It affects females more often than males and it usually presents as a solitary mass. A minority of patients have multiple tumors. It can arise from many anatomic sites including the posterior pituitary gland, skin, oral cavity, esophagus, stomach, heart, mediastinum, and breast. tmpaxzxjjyw_mondo_relaxed.owl granular cell tumor NOS (morphologic abnormality)|granular cell tumor (morphologic abnormality)|neoplasm of granular cell|Abrikosov’s tumor|malignant variant of Abrikosov's tumor|Abrikosov's tumor|Abrikosoff's tumor|giant granulocellular Abrikosov's tumor|GCT|Abrikossoff tumor|granular cell schwannoma|granular cell nerve sheath tumor|granular cell myoblastoma|granular cell tumor|Abrikosoff's granulous cell tumor|Abrikossoff's tumor|granular cell neoplasm ICDO:9580/0|MESH:D016586|ICD9:215.9|UMLS:C0085167|SCTID:404035005|MESH:C535558|GARD:0009618|DOID:2411|ONCOTREE:GCT|EFO:1000284|NCIT:C3474 Editor note: MESH considers this a myoblastoma but we go with NCIT which states nerve sheath origin, consistent with GARD definition; also check ONCOTREE placement https://rarediseases.info.nih.gov/diseases/9618/granular-cell-tumor owl:Class MONDO:0015268 biolink:NamedThing medullary sponge kidney Medullary sponge kidney (MSK) is a birth defect of the tubules - tiny tubes inside the kidneys. In a normal kidney, urine flows through these tubules as it is being formed. In MSK, tiny sacs called cysts form in the medulla (the inner part of the kidney), creating a sponge-like appearance. The cysts keep urine from flowing freely through the tubules. MSK is present at birth but symptoms typically do not occur until adolescence or adulthood. Problems caused by MSK include blood in the urine, kidney stones, and urinary tract infections. MSK rarely leads to more serious problems, such as total kidney failure. There is no cure for this condition, so treatment is aimed at removing kidney stones and treating urinary tract infections with antibiotics. tmpaxzxjjyw_mondo_relaxed.owl Precalicial canalicular ectasia|Cacchi-Ricci syndrome|Cacchi-Ricci disease|cystic dilatation of renal collecting tubes|Precalyceal canalicular ectasia|MSK|sponge kidney|Cacchi Ricci disease Orphanet:1309|GARD:0000232|MESH:D007691|UMLS:C0022681|ICD10:Q61.5|OMIM:174000|SCTID:236443009|ICD9:753.17|MedDRA:10027104|NCIT:C34751 https://rarediseases.info.nih.gov/diseases/232/medullary-sponge-kidney owl:Class UBERON:0006331 biolink:NamedThing brainstem nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018154 biolink:NamedThing Madelung deformity Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q74.0|GARD:0012973|OMIM:127300|SCTID:4530000|MedDRA:10007700|Orphanet:35688|ICD9:755.54 owl:Class MONDO:0004377 biolink:NamedThing pancreatic non-functioning delta cell tumor A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It is not associated with a hormonal syndrome. tmpaxzxjjyw_mondo_relaxed.owl non-functioning pancreatic Delta cell neoplasm|nonfunctional Pancreatic Delta cell Neuroendocrine tumor|non-functioning pancreatic Delta cell tumor|non-functional pancreatic Delta cell neuroendocrine tumor|non-functional pancreatic Delta cell NET NCIT:C28333|DOID:7840|UMLS:C1335311 owl:Class MONDO:0002994 biolink:NamedThing pancreatic delta cell neuroendocrine tumor A usually malignant neuroendocrine tumor arising from the delta cells of the pancreas. It may be associated with inappropriate secretion of somatostatin and an associated clinical syndrome, or it may be hormonally inactive (non-functioning). tmpaxzxjjyw_mondo_relaxed.owl pancreatic Delta cell tumor|pancreatic delta cell neoplasm|pancreatic Delta cell neoplasm|pancreatic Delta cell neuroendocrine tumor|pancreatic Delta cell NET DOID:4433|NCIT:C28396|UMLS:C1335301 owl:Class NCBITaxon:333774 biolink:NamedThing unclassified Papillomaviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:151340 biolink:NamedThing Papillomaviridae tmpaxzxjjyw_mondo_relaxed.owl Papillomavirus PMID:20206957|GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004274 biolink:NamedThing lateral ventricle choroid plexus epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002630 biolink:NamedThing small cell osteogenic sarcoma An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable. tmpaxzxjjyw_mondo_relaxed.owl round cell osteosarcoma|SCOS|small cell osteosarcoma ICDO:9185/3|UMLS:C0279622|NCIT:C4023|DOID:3377|ONCOTREE:SCOS owl:Class MONDO:0006716 biolink:NamedThing coronary thrombosis Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction. tmpaxzxjjyw_mondo_relaxed.owl coronary vessel thrombotic disease|thrombotic disease of coronary vessel|coronary artery thrombosis UMLS:C0010072|ICD10:I22|EFO:1000883|MESH:D003328|ICD10:I21|MedDRA:10011108|SCTID:398274000|DOID:11847 owl:Class MONDO:0003442 biolink:NamedThing bladder papillary urothelial neoplasm A papillary epithelial neoplasm that involves the urinary bladder urothelium. tmpaxzxjjyw_mondo_relaxed.owl bladder papillary urothelial neoplasm|urinary bladder papillary transitional cell neoplasm|urinary bladder papillary urothelial neoplasm|bladder papillary transitional cell neoplasm|urinary bladder urothelium papillary epithelial neoplasm UMLS:C1511197|DOID:5432|NCIT:C39857 owl:Class MONDO:0017339 biolink:NamedThing exfoliative ichthyosis Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment. tmpaxzxjjyw_mondo_relaxed.owl exfoliative ichthyosis|autosomal recessive exfoliative ichthyosis|ichthyosis exfoliativa UMLS:C1838440|ICD10:Q80.8|Orphanet:289586|OMIM:607936|OMIM:617115 owl:Class GO:0042537 biolink:NamedThing benzene-containing compound metabolic process The chemical reactions and pathways involving benzene, C6H6, a volatile, very inflammable liquid, contained in the naphtha produced by the destructive distillation of coal, from which it is separated by fractional distillation, or any of its derivatives. tmpaxzxjjyw_mondo_relaxed.owl benzene-containing compound metabolism|benzene and derivative metabolic process|benzene and derivative metabolism owl:Class MONDO:0016651 biolink:NamedThing maternal uniparental disomy of chromosome 1 Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpaxzxjjyw_mondo_relaxed.owl UPD(1)mat|maternal uniparental disomy of chromosome type 1 Orphanet:251009|ICD10:Q99.8 owl:Class GO:0001870 biolink:NamedThing positive regulation of complement activation, lectin pathway Any process that activates or increases the frequency, rate or extent of complement activation by the lectin pathway. tmpaxzxjjyw_mondo_relaxed.owl activation of complement activation, lectin pathway|positive regulation of complement cascade, lectin pathway|up regulation of complement activation, lectin pathway|upregulation of complement activation, lectin pathway|up-regulation of complement activation, lectin pathway|stimulation of complement activation, lectin pathway owl:Class GO:0045917 biolink:NamedThing positive regulation of complement activation Any process that activates or increases the frequency, rate or extent of complement activation. tmpaxzxjjyw_mondo_relaxed.owl stimulation of complement activation|positive regulation of complement cascade|upregulation of complement activation|up regulation of complement activation|activation of complement activation|up-regulation of complement activation owl:Class UBERON:0004644 biolink:NamedThing fourth ventricle ependyma tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004553 biolink:NamedThing forelimb digital artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004552 biolink:NamedThing digital artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001838 biolink:NamedThing sublingual duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013996 biolink:NamedThing focal facial dermal dysplasia type II Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities. tmpaxzxjjyw_mondo_relaxed.owl focal facial dermal dysplasia 2, Brauer-Setleis type|FFDD type II|FFDD2|Brauer-Setleis syndrome Orphanet:398166|UMLS:C3554245|Orphanet:398173|ICD10:Q82.8|OMIM:614973 owl:Class HP:0002486 biolink:NamedThing Myotonia An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. tmpaxzxjjyw_mondo_relaxed.owl Delayed relaxation of muscle fibres after contraction|Delayed relaxation of muscle fibers after contraction UMLS:C0027125|SNOMEDCT_US:3434004|MSH:D009222 Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers. HP:0003754|HP:0003792|HP:0003632 human_phenotype owl:Class UBERON:0010299 biolink:NamedThing scleral mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005363 biolink:NamedThing focal segmental glomerulosclerosis A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure. tmpaxzxjjyw_mondo_relaxed.owl focal glomerular sclerosis|FGS (focal glomerular sclerosis)|FSGS|FSGS - focal segmental glomerulosclerosis|FGS|focal glomerulosclerosis OMIM:607832|MESH:D005923|SCTID:236403004|OMIM:603965|OMIMPS:603278|OMIM:616220|ICD9:582.1|DOID:1312|OMIM:612551|OMIM:614131|OMIM:616032|UMLS:CN043606|OMIM:613237|EFO:0004236|OMIM:616002|GARD:0006517|NCIT:C37308 owl:Class MONDO:0025488 biolink:NamedThing leukemia, feline A neoplastic disease of cats frequently associated with feline leukemia virus infection. tmpaxzxjjyw_mondo_relaxed.owl leukemias, Feline|Feline leukemias|Feline leukemia MESH:D016582|UMLS:C0085164 owl:Class MONDO:0014089 biolink:NamedThing corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome tmpaxzxjjyw_mondo_relaxed.owl corneal intraepithelial dyskeratosis and ectodermal dysplasia, formerly|MSPC|corneal intraepithelial dyskeratosis and ectodermal dysplasia|palmoplantar carcinoma, multiple self-healing; MSPC|palmoplantar carcinoma, multiple self-healing|CIDED UMLS:CN204511|ICD10:Q82.8|UMLS:C3808876|OMIM:615225|OMIM:616964|Orphanet:352662 owl:Class MONDO:0021280 biolink:NamedThing mucoepidermoid carcinoma of parotid gland A mucoepidermoid carcinoma that involves the parotid gland. tmpaxzxjjyw_mondo_relaxed.owl mucoepidermoid carcinoma of parotid|parotid mucoepidermoid carcinoma|mucoepidermoid carcinoma of the parotid gland|parotid gland mucoepidermoid carcinoma|mucoepidermoid carcinoma of the parotid UMLS:C1335363|NCIT:C5938|SCTID:423793008 owl:Class MONDO:0020236 biolink:NamedThing lens position anomaly Partial or complete displacement of the crystalline lens from its normal position in the eye. tmpaxzxjjyw_mondo_relaxed.owl ectopia lentis ICD10:Q12.1|HP:0001083|NCIT:C125484|Orphanet:98653 Editor note: consider obsoleting as is a phenotypic feature owl:Class MONDO:0019344 biolink:NamedThing antisynthetase syndrome Antisynthetase (AS) syndrome is a clinically heterogeneous form of idiopathic inflammatory myopathy characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease (ILD), and serum autoantibodies to aminoacyl transfer RNA synthetases (anti-ARS). tmpaxzxjjyw_mondo_relaxed.owl anti-Jo1 syndrome|AS syndrome ICD9:279.49|ICD10:M35.8|MedDRA:10068801|EFO:1001982|GARD:0000735|SCTID:445187004|UMLS:C2609059|MESH:C537778|Orphanet:81 https://rarediseases.info.nih.gov/diseases/735/antisynthetase-syndrome owl:Class OBO:CHR_9606-chrY biolink:NamedThing chromosome Y (Human) tmpaxzxjjyw_mondo_relaxed.owl Y 57227415 0 hg38 owl:Class GO:0000806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21022 biolink:NamedThing AARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019073 biolink:NamedThing hypotrichosis-lymphedema-telangiectasia-renal defect syndrome tmpaxzxjjyw_mondo_relaxed.owl glomerulonephritis with sparse hair and telangiectases|hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome|HLTRS|hypotrichosis-lymphedema-telangiectasia-renal defect syndrome|telangiectatic membranoproliferative glomerulonephritis UMLS:CN205563|MESH:C536825|GARD:0002492|OMIM:137940|DOID:0111360 owl:Class MONDO:0009511 biolink:NamedThing Larsen-like syndrome, B3GAT3 type Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported. tmpaxzxjjyw_mondo_relaxed.owl multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects|multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects|multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|JDSCD|Larsen syndrome, autosomal recessive|Larsen syndrome, autosomal recessive, formerly|multiple JOINT dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects OMIM:245600|DOID:0080575|MESH:C537874|ICD10:Q74.8|Orphanet:284139 owl:Class CL:0000021 biolink:NamedThing female germ cell Female germ cell is a germ cell that supports female gamete production. tmpaxzxjjyw_mondo_relaxed.owl ncithesaurus:Egg|MA:0000388|VHOG:0001530 cell owl:Class CL:0000439 biolink:NamedThing prolactin secreting cell A peptide hormone cell that secretes prolactin. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0014804 biolink:NamedThing sideroblastic anemia 3 tmpaxzxjjyw_mondo_relaxed.owl adult-onset autosomal recessive sideroblastic anemia|GLRX5-related sideroblastic anemia|anemia, sideroblastic, 3, pyridoxine-refractory|SIDBA3 DOID:0080343|ICD10:D64.0|SCTID:720465002|Orphanet:255132|OMIM:616860 owl:Class MONDO:0001365 biolink:NamedThing necrosis of ear ossicle tmpaxzxjjyw_mondo_relaxed.owl partial loss or necrosis of ear ossicles ICD9:385.24|DOID:11783 Editor note: TODO consider cede to HPO owl:Class MONDO:0005327 biolink:NamedThing hip fracture Traumatic or pathological injury to the hip in which the continuity of either the femoral head, femoral neck, intertrochanteric or subtrochanteric regions is broken. Symptoms include pain in the hip or groin, bruising and swelling in and around the hip area. The injured hip is turned outward and the leg appears shorter on that side. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26794|EFO:0003964|MESH:D006620|SCTID:263225007 owl:Class CHEBI:26714 biolink:NamedThing sodium salt Any alkali metal salt having sodium(1+) as the cation. tmpaxzxjjyw_mondo_relaxed.owl Natriumsalz|Natriumsalze|sodium salts owl:Class CHEBI:26712 biolink:NamedThing sodium molecular entity tmpaxzxjjyw_mondo_relaxed.owl sodium compounds|sodium molecular entities owl:Class MONDO:0017093 biolink:NamedThing unilateral focal polymicrogyria Unilateral focal polymicrogyria (BFPP) is the mildest sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q04.3|Orphanet:268947 owl:Class MONDO:0017092 biolink:NamedThing unilateral polymicrogyria Unilateral polymicrogyria is a cerebral cortical malformation characterized by unilateral excessive cortical folding and abnormal cortical layering. It comprises two sub-types depending on the areas affected: unilateral hemispheric and focal polymicrogyria. tmpaxzxjjyw_mondo_relaxed.owl SCTID:715905006|UMLS:C4024960|Orphanet:268943|ICD10:Q04.3 owl:Class MONDO:0000590 biolink:NamedThing autoimmune disorder of peripheral nervous system A hypersensitivity reaction type II disease that involves the peripheral nervous system. tmpaxzxjjyw_mondo_relaxed.owl peripheral nervous system hypersensitivity reaction type II disease|peripheral nervous system autoimmune disease DOID:0060033 owl:Class MONDO:0006416 biolink:NamedThing small intestinal Burkitt lymphoma A Burkitt lymphoma that arises from the small intestine. tmpaxzxjjyw_mondo_relaxed.owl Burkitt lymphoma of small intestine|Burkitts lymphoma of small intestine|small intestinal Burkitt lymphoma|small intestine Burkitt lymphoma|primary small intestinal Burkitt's lymphoma|small intestine Burkitt's lymphoma|small intestine Burkitts lymphoma|small intestinal Burkitt's lymphoma EFO:1000533|NCIT:C27409|UMLS:C1335991 owl:Class MONDO:0001852 biolink:NamedThing small intestine lymphoma A non-Hodgkin or Hodgkin lymphoma that arises from the small intestine. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of small bowel|lymphoma of small intestine|small bowel lymphoma|small intestine lymphoma|lymphoma of the small bowel|small intestinal lymphoma|lymphoma of the small intestine|primary small intestinal lymphoma DOID:13996|SCTID:449074003|UMLS:C0278805|NCIT:C4007|ICD9:202.80 owl:Class MONDO:0009500 biolink:NamedThing kuru, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl kuru, susceptibility to|susceptibility to kuru UMLS:C1855588|OMIM:245300 owl:Class MONDO:0016868 biolink:NamedThing partial deletion of chromosome 3 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 3|partial deletion of chromosome type 3 ICD10:Q93.5|Orphanet:261776 owl:Class GO:1903779 biolink:NamedThing regulation of cardiac conduction Any process that modulates the frequency, rate or extent of cardiac conduction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014675 biolink:NamedThing distal interphalangeal joint of pedal digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009768 biolink:NamedThing distal interphalangeal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002703 biolink:NamedThing regulation of leukocyte mediated immunity Any process that modulates the frequency, rate, or extent of leukocyte mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl regulation of leucocyte mediated immunity|regulation of immune cell mediated immunity owl:Class MONDO:0021451 biolink:NamedThing benign neoplasm of brain A benign neoplasm that involves the brain. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of brain|benign neoplasm of the brain|brain benign neoplasm|benign tumor of the brain|benign brain tumor|brain neoplasms, benign|benign brain neoplasm NCIT:C4781|EFO:1000107|SCTID:92030004|ICD9:225.0 owl:Class NCBITaxon:3758 biolink:NamedThing Prunus domestica tmpaxzxjjyw_mondo_relaxed.owl plum|Prunus domestica subsp. intermedia GC_ID:1 NCBITaxon:114938 ncbi_taxonomy owl:Class MONDO:0012152 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl attention Deficit-hyperactivity disorder, susceptibility to, type 4|Adhd4|attention deficit-hyperactivity disorder, susceptibility to, 4 OMIM:608906 owl:Class UBERON:0006647 biolink:NamedThing adventitia of ductus deferens tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000313 biolink:NamedThing gastric goblet cell A goblet cell that is part of the epithelium of stomach. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of epithelium of stomach FMA:263035 cell owl:Class MONDO:0007401 biolink:NamedThing craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl Braddock Jones Superneau syndrome|hydrocephalus, autosomal dominant|craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome|Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus|HDCPH1|sagittal craniosynostosis, Dandy-Walker malformation and hydrocephalus|Braddock-Jones-Superneau syndrome MESH:C563973|UMLS:CN199608|GARD:0001592|OMIM:123155|ICD10:Q03.1|ICD10:Q75.0|Orphanet:1538|SCTID:720813007|GARD:0000998 https://rarediseases.info.nih.gov/diseases/1592/dandy-walker-malformation-with-sagittal-craniosynostosis-and-hydrocephalus owl:Class HGNC:10729 biolink:NamedThing SEMA4A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004893 biolink:NamedThing hypertropia Vertical strabismus in which there is permanent upward deviation of the visual axis of one eye. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020575|SCTID:40608009|ICD10:H50.2|NCIT:C34716|ICD9:378.31|DOID:9837 owl:Class MONDO:0003432 biolink:NamedThing strabismus Strabismus is the intermittent or constant misalignment of an eye so that its line of vision is not pointed at the same object as the other eye. Strabismus is caused by an imbalance in the extraocular muscles which control the positioning of the eyes. Strabismus is normal in newborns but should resolve by the time the baby is 6 months old. In older children with strabismus, the brain may learn to ignore the input from one eye, and this may lead to amblyopia, a potentially permanent decrease in vision in that eye if not corrected. tmpaxzxjjyw_mondo_relaxed.owl strabismus|squint ICD9:378.7|ICD9:378.40|NCIT:C35040|UMLS:C0038379|DOID:540|ICD10:H50.89|SCTID:22066006|ICD10:H50.8 owl:Class MONDO:0033862 biolink:NamedThing primary autoimmune enteropathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:522037 owl:Class HP:0002113 biolink:NamedThing Pulmonary infiltrates tmpaxzxjjyw_mondo_relaxed.owl Pulmonic infiltration|Lung infiltrates UMLS:C0235896 human_phenotype owl:Class HP:0031983 biolink:NamedThing Abnormal pulmonary thoracic imaging finding This term groups terms representing abnormal findings derived from chest X-ray investigation of the lung. In general, lung abnormalities can manifest as opacities (areas of increased density) or as regions with decreased density. tmpaxzxjjyw_mondo_relaxed.owl Abnormal chest radiograph finding (lung) 2018-07-08 13:38:01+00:00 peter human_phenotype owl:Class UBERON:0003978 biolink:NamedThing valve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003241 biolink:NamedThing central nervous system hemangioma A hemangioma arising from the brain and spinal cord. tmpaxzxjjyw_mondo_relaxed.owl hemangioma of CNS|hemangioma of the central nervous system|hemangioma of the CNS|hemangioma of central nervous system|central nervous system hemangioma DOID:501|NCIT:C7004|UMLS:C1333957 owl:Class CL:1000504 biolink:NamedThing kidney medulla cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001017 cell owl:Class MONDO:0021311 biolink:NamedThing malignant tumor of parathyroid gland A cancer that involves the parathyroid gland. tmpaxzxjjyw_mondo_relaxed.owl malignant parathyroid gland tumor|malignant neoplasm of the parathyroid|malignant parathyroid neoplasm|malignant tumor of parathyroid|cancer of parathyroid gland|malignant neoplasm of parathyroid gland|malignant neoplasm of the parathyroid gland|parathyroid cancer|malignant tumor of the parathyroid|malignant parathyroid tumor|malignant parathyroid gland neoplasm|malignant tumor of the parathyroid gland|parathyroid gland cancer|malignant neoplasm of parathyroid NCIT:C9322|ONCOTREE:PTH|ICD9:194.1|SCTID:363481002 owl:Class HP:0001751 biolink:NamedThing Vestibular dysfunction An abnormality of the functioning of the vestibular apparatus. tmpaxzxjjyw_mondo_relaxed.owl Impaired vestibular function|Interictal vestibular dysfunction|Vestibular function defect UMLS:C1843865 The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body. HP:0006917|HP:0007921 human_phenotype owl:Class MONDO:0010278 biolink:NamedThing Christianson syndrome Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability microcephaly epilepsy and ataxia syndrome|X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy|mental retardation, X-linked, syndromic, Christianson type|intellectual disability, X-linked syndromic, Christianson type|X-linked Angelman-like syndrome|Christianson syndrome|intellectual disability, X-linked, syndromic, Christianson type|X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome|X-linked intellectual disability, South African type|intellectual disability, microcephaly, epilepsy, and ataxia syndrome|MRXS Christianson|intellectual disability x-linked syndromic Christianson type|MRXSCH|Angelman-like syndrome, X-linked|mental retardation, X-linked syndromic, Christianson type|Angelman-like syndrome x-linked|mental retardation, microcephaly, epilepsy, and ataxia syndrome MESH:C567484|UMLS:C2678194|ICD9:759.89|DOID:0060825|SCTID:702354007|ICD10:Q87.8|Orphanet:85278|OMIM:300243|GARD:0010572 https://rarediseases.info.nih.gov/diseases/10572/christianson-syndrome owl:Class MONDO:0044628 biolink:NamedThing six2-related frontonasal dysplasia tmpaxzxjjyw_mondo_relaxed.owl SIX2-related FND Orphanet:488437 owl:Class MONDO:0004383 biolink:NamedThing adult central nervous system germinoma A central nervous system germinoma that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl adult CNS germinoma|adult central nervous system germinoma|germinoma of adult CNS|central nervous system germinoma of adults|germinoma of the adult CNS|central nervous system germinoma|germinoma of adult central nervous system|germinoma of the adult central nervous system DOID:7867|UMLS:C1370504|NCIT:C5792 owl:Class MONDO:0041879 biolink:NamedThing staphylococcus aureus pneumonia An pneumonia caused by infection with Staphylococcus aureus. tmpaxzxjjyw_mondo_relaxed.owl pneumonia caused by staphylococcus aureus|staphylococcus aureus pneumonia|pneumonia due to staphylococcus aureus|Staphylococcus aureus pneumonia|Staphylococcus aureus caused pneumonia SCTID:441658007 owl:Class GO:0016620 biolink:NamedThing oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces NAD or NADP. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000094 biolink:NamedThing membrane organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001514 biolink:NamedThing descending aorta tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005800 biolink:NamedThing section of aorta tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002172 biolink:NamedThing otosalpingitis An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube. tmpaxzxjjyw_mondo_relaxed.owl pharyngotympanic tube inflammation|Eustachian salpingitis|Eustachian tube salpingitis|inflammation of pharyngotympanic tube ICD10:H68.009|ICD10:H68.00|DOID:2000|UMLS:C0155428|ICD9:381.50|ICD9:381.5|ICD10:H68.0|SCTID:270491006 owl:Class MONDO:0004693 biolink:NamedThing squamous carcinoma in situ A malignant epithelial neoplasm confined to the squamous epithelium, without invasion of the underlying tissues. tmpaxzxjjyw_mondo_relaxed.owl carcinoma, squamous cell, in situ, malignant|intraepithelial squamous cell carcinoma|CIN III|cervical intraepithelial neoplasia grade III with severe dysplasia|uterine cervix in situ carcinoma|carcinoma in situ of cervix|severe dysplasia of the cervix uteri|severe dysplasia of cervix|carcinoma in situ of uterine cervix|squamous intraepithelial neoplasia, grade III|stage 0 uterine cervix carcinoma|squamous cell carcinoma in-situ|grade 3 SIN|CIN III - carcinoma in situ of cervix|squamous carcinoma in situ|stage 0 squamous cell carcinoma|grade III squamous intraepithelial neoplasia|grade 3 squamous intraepithelial neoplasia|epidermoid carcinoma in situ|epidermoid cell carcinoma in situ|cervix Ca in situ|CIN III - severe dyskaryosis|grade III SIN|squamous cell carcinoma in situ ICDO:8070/2|ICDO:8077/2|UMLS:C0334245|NCIT:C27093 owl:Class MONDO:0008245 biolink:NamedThing piebald trait-neurologic defects syndrome Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. tmpaxzxjjyw_mondo_relaxed.owl piebald trait with neurologic defects|telfer Sugar Jaeger syndrome|piebald trait neurologic defects|White forelock and leukoderma with neurological impairment|telfer-Sugar-Jaeger syndrome UMLS:C1868311|GARD:0005133|MESH:C536955|Orphanet:2885|OMIM:172850 owl:Class MONDO:0020296 biolink:NamedThing congenital arteriovenous fistula An abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10003226|NCIT:C35377|Orphanet:98731|SCTID:234148007|MESH:D001164 owl:Class MONDO:0016230 biolink:NamedThing simple vascular malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:211243 owl:Class MONDO:0016010 biolink:NamedThing vitamin K-antagonist embryofetopathy A teratogenic disorder observed in a newborn or child of a mother who was exposed to warfarin during pregnancy. Manifestations include nasal bridge depression, nasal bones hypoplasia, microcephaly, congenital heart disorders, and brachydactyly. tmpaxzxjjyw_mondo_relaxed.owl fetal anticoagulant syndrome|fetal Coumadin syndrome|DiSala syndrome|di Sala syndrome|congenital warfarin syndrome|vitamin K antagonist embryopathy|vitamin K antagonists embryofetopathy|coumarin syndrome|warfarin embryofetopathy|embryofetopathy due to oral anticoagulant therapy|vitamin K-antagonist embryopathy|fetal warfarin syndrome|vitamin K-antagonist embryofetopathy|coumarin embryopathy|warfarin syndrome|warfarin embryopathy|vitamin K antagonist embryofetopathy ICD9:759.89|NCIT:C98906|Orphanet:1914|MESH:C536683|GARD:0008580|UMLS:C0265374|ICD10:Q86.2|SCTID:38323006|MedDRA:10051445 https://rarediseases.info.nih.gov/diseases/8580/warfarin-syndrome owl:Class GO:0004466 biolink:NamedThing long-chain-acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF. tmpaxzxjjyw_mondo_relaxed.owl long-chain-acyl-CoA:(acceptor) 2,3-oxidoreductase activity|long-chain-acyl-CoA:acceptor 2,3-oxidoreductase activity|palmitoyl-coenzyme A dehydrogenase activity|palmitoyl-CoA dehydrogenase activity|long-chain acyl-coenzyme A dehydrogenase activity owl:Class GO:0003995 biolink:NamedThing acyl-CoA dehydrogenase activity Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor. tmpaxzxjjyw_mondo_relaxed.owl acyl coenzyme A dehydrogenase activity|acyl CoA dehydrogenase activity|acyl-CoA:(acceptor) 2,3-oxidoreductase activity|medium-chain acyl-CoA dehydrogenase activity|general acyl CoA dehydrogenase activity|medium-chain acyl-coenzyme A dehydrogenase activity|acyl dehydrogenase activity|fatty-acyl-CoA dehydrogenase activity|fatty acyl coenzyme A dehydrogenase activity|long-chain acyl-CoA dehydrogenase activity|acyl-CoA reductase activity|acyl-CoA:acceptor 2,3-oxidoreductase activity|long-chain acyl coenzyme A dehydrogenase activity owl:Class UBERON:0004698 biolink:NamedThing vena cava endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000605 biolink:NamedThing hypersensitivity reaction disease An immune system disease that has basis in dysregulation of the hypersensitivity reaction, an inflammatory response to an exogenous environmental antigen or an endogenous antigen initiated by the adaptive immune system. tmpaxzxjjyw_mondo_relaxed.owl hypersensitivity|sensitivity|hypersensitivity reaction|allergic reaction|hypersensitive|sensitive NCIT:C3114|DOID:0060056|EFO:1002003|SCTID:473010000 owl:Class MONDO:0000340 biolink:NamedThing bulbospinal polio A paralytic poliomyelitis in which the site of paralysis is the bulbospinal tract. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050514 Editor note: TODO align with anatomy owl:Class MONDO:0000341 biolink:NamedThing paralytic poliomyelitis A poliomyelitis that results in destruction located in motor neurons of central nervous system, has material basis in Human poliovirus 1, has material basis in Human poliovirus 2, or has material basis in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050515 owl:Class GO:0002821 biolink:NamedThing positive regulation of adaptive immune response Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. tmpaxzxjjyw_mondo_relaxed.owl up regulation of adaptive immune response|stimulation of adaptive immune response|activation of adaptive immune response|upregulation of adaptive immune response|up-regulation of adaptive immune response owl:Class MONDO:0003322 biolink:NamedThing epithelial predominant Wilms' tumor Wilms tumor of the kidney characterized by the predominance of the epithelial component. The epithelial cells may form papillary and tubular patterns and pseudorosettes. tmpaxzxjjyw_mondo_relaxed.owl epithelial predominant renal Wilms' tumor|epithelial predominant renal Wilm's tumor|epithelial predominant kidney Wilms tumor|epithelial predominant Wilms tumor|epithelial predominant kidney adenosarcoma|epithelial predominant renal adenosarcoma|epithelial predominant nephroblastoma|epithelial predominant renal Wilms tumor DOID:5189|NCIT:C9146|UMLS:C0279608 owl:Class MONDO:0001457 biolink:NamedThing secondary vitreoretinal degeneration tmpaxzxjjyw_mondo_relaxed.owl DOID:12167|ICD9:362.66|SCTID:60676002|ICD10:H35.46|UMLS:C0154859 owl:Class HGNC:9143 biolink:NamedThing PHOX2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002676 biolink:NamedThing adult fibrosarcoma A malignant mesenchymal neoplasm composed of fibroblasts. It is characterized by collagen production and a herringbone architectural pattern. It is more commonly seen in middle-aged and older adults. It usually affects the deep soft tissues of extremities, trunk, head and neck. Adult fibrosarcomas may recur and metastasize to the lungs and bones. tmpaxzxjjyw_mondo_relaxed.owl adult fibrosarcoma|fibrosarcoma (disease) of adults|adult fibrosarcoma (disease)|fibrosarcoma UMLS:C0278595|NCIT:C7809|DOID:3516 owl:Class MONDO:0002677 biolink:NamedThing conventional fibrosarcoma A malignant mesenchymal neoplasm composed of fibroblasts, and characterized by collagen production and usually a herringbone architectural pattern. tmpaxzxjjyw_mondo_relaxed.owl classical fibrosarcoma|conventional fibrosarcoma|classic fibrosarcoma DOID:3517|NCIT:C9429|UMLS:C1333156 owl:Class CL:0001033 biolink:NamedThing hippocampal granule cell Granule cell that is part of the hippocampus. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0000120 biolink:NamedThing granule cell tmpaxzxjjyw_mondo_relaxed.owl BTO:0003393 cell owl:Class MONDO:0018258 biolink:NamedThing Angora hair nevus tmpaxzxjjyw_mondo_relaxed.owl Schauder syndrome ICD10:Q82.5|UMLS:CN204833|Orphanet:370039 owl:Class GO:0070469 biolink:NamedThing respirasome The protein complexes that form the electron transport system (the respiratory chain), associated with a cell membrane, usually the plasma membrane (in prokaryotes) or the inner mitochondrial membrane (on eukaryotes). The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. tmpaxzxjjyw_mondo_relaxed.owl respiratory chain|membrane electron transport chain owl:Class ECTO:9001813 biolink:NamedThing exposure to amphiprotic solvent An exposure to amphiprotic solvent. tmpaxzxjjyw_mondo_relaxed.owl exposure to amphiprotic solvent owl:Class ECTO:9001811 biolink:NamedThing exposure to protic solvent An exposure to protic solvent. tmpaxzxjjyw_mondo_relaxed.owl exposure to protic solvent owl:Class HGNC:4162 biolink:NamedThing GARS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000343 biolink:NamedThing altitudinal condition An altitudinal condition is an environmental condition in which ranges of factors such as temperature, humidity, soil composition, solar irradiation, and tree density vary with ranges in altitude. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000203 biolink:NamedThing environmental condition An environmental condition is a range of a determinate quality or combination of qualities that are present in an environmental system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009064 biolink:NamedThing ocular cystinosis Ocular cystinosis is the benign, adult form of cystinosis, a metabolic disease characterized by an accumulation of cystine crystals in the cornea and conjunctiva responsible for tearing and photophobia and associated with no other additional manifestations. tmpaxzxjjyw_mondo_relaxed.owl cystinosis, ADULT NONNEPHROPATHIC|non-nephropathic cystinosis|adult-onset cystinosis|cystinosis, benign Nonnephropathic|cystinosis, ocular Nonnephropathic|ocular cystinosis Orphanet:213|Orphanet:411641|ICD10:E72.0|OMIM:219750|UMLS:C2931013|MESH:C535765 owl:Class MONDO:0004901 biolink:NamedThing lingual-facial-buccal dyskinesia Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions. tmpaxzxjjyw_mondo_relaxed.owl oro-facial dyskinesia UMLS:C0152115|DOID:9854|ICD9:333.82|MESH:D009069|ICD10:G24.4|SCTID:49386006 owl:Class MONDO:0007366 biolink:NamedThing seizures, benign familial neonatal, 2 Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene. tmpaxzxjjyw_mondo_relaxed.owl BFNS2|seizures, benign familial neonatal, 2|benign neonatal seizures caused by mutation in KCNQ3|convulsions, benign familial neonatal, 2|KCNQ3 benign neonatal seizures|seizures, benign familial neonatal, type 2 OMIM:121201|Orphanet:1949|UMLS:C1852581 owl:Class HGNC:14124 biolink:NamedThing NPRL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020342 biolink:NamedThing congenital myopathy with excess of thin filaments tmpaxzxjjyw_mondo_relaxed.owl actin myopathy Orphanet:98904|MESH:C579880|OMIM:161800|ICD10:G71.2 owl:Class MONDO:0009140 biolink:NamedThing Silverman-Handmaker type dyssegmental dysplasia Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type|dyssegmental dwarfism Silverman-Handmaker type|dyssegmental dysplasia, Silverman-Handmaker type|dyssegmental dysplasia Silverman-Handmaker type|DDSH|Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type|dyssegmental dwarfism, Silverman-Handmaker type DOID:0090032|ICD9:759.89|Orphanet:1865|SCTID:93132001|MESH:C537998|ICD10:Q77.7|OMIM:224410|GARD:0002026 https://rarediseases.info.nih.gov/diseases/2026/dyssegmental-dysplasia-silverman-handmaker-type owl:Class MONDO:0019689 biolink:NamedThing perlecan-related bone disorder tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227675|Orphanet:93424 owl:Class MONDO:0015455 biolink:NamedThing gonococcal conjunctivitis Inflammation of the conjunctiva in a newborn due to Neisseria gonorrhoeae which was acquired during labor and delivery. tmpaxzxjjyw_mondo_relaxed.owl conjunctivitis gonococcal|gonococcal ophthalmia neonatorum ICD10:H13.1*|ICD10:A54.31|Orphanet:1482|ICD10:A54.3+|SCTID:231858009|GARD:0002546|NCIT:C116816 https://rarediseases.info.nih.gov/diseases/2546/gonococcal-conjunctivitis owl:Class GO:0009100 biolink:NamedThing glycoprotein metabolic process The chemical reactions and pathways involving glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpaxzxjjyw_mondo_relaxed.owl glycoprotein metabolism owl:Class MONDO:0005663 biolink:NamedThing Barre-Lieou syndrome A neurologic syndrome following injury of the spinal sympathetic nerves of the neck. The injury usually results from arthritis or pinching by the adjacent vertebrae. Symptoms include facial pain, chronic allergies, dizziness, neck pain, ear pain and vertigo. tmpaxzxjjyw_mondo_relaxed.owl posterior cervical sympathetic syndrome|Cervicocranial syndrome DOID:6692|ICD9:723.2|UMLS:C2355645|MESH:D055010|EFO:0007165|SCTID:17300000|NCIT:C34411|ICD10:M53.0|UMLS:C0376378 owl:Class MONDO:0012845 biolink:NamedThing inflammatory bowel disease 19 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene. tmpaxzxjjyw_mondo_relaxed.owl inflammatory bowel disease caused by mutation in IRGM|inflammatory bowel disease type 19|IBD19|IRGM inflammatory bowel disease|inflammatory bowel disease 19|inflammatory bowel disease (Crohn disease) 19 DOID:0110890|UMLS:C2677079|OMIM:612278|MESH:C567372 owl:Class GO:2000835 biolink:NamedThing negative regulation of androgen secretion Any process that stops, prevents or reduces the frequency, rate or extent of androgen secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000832 biolink:NamedThing negative regulation of steroid hormone secretion Any process that stops, prevents or reduces the frequency, rate or extent of steroid hormone secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11608 biolink:NamedThing TBXA2R tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019500 biolink:NamedThing extragonadal teratoma Extragonadal teratoma is an extremely rare, benign or malignant germ cell tumor characterized, clinically, by a teratoma presenting in an extragonadal location (e.g. retroperitoneum, mediastinum, craniofacial or sacrococcygeal region, intraosseous, solid organs) and, histologically, by displaying well-differentiated structures, as well as immature elements. Presenting symptoms are variable depending on size and location of tumor. tmpaxzxjjyw_mondo_relaxed.owl SCTID:768937006|Orphanet:883|MedDRA:10043276 owl:Class MONDO:0017168 biolink:NamedThing benign epithelial tumor of salivary glands tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202592|ICD10:D11.7|OMIM:181030|ICD10:D11.0|Orphanet:276148 owl:Class GO:0071331 biolink:NamedThing cellular response to hexose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071326 biolink:NamedThing cellular response to monosaccharide stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018280 biolink:NamedThing muscle-eye-brain disease with bilateral multicystic leucodystrophy Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts. tmpaxzxjjyw_mondo_relaxed.owl MEB disease with bilateral multicystic leucodystrophy ICD10:G71.2|Orphanet:370997|OMIM:616538 owl:Class MONDO:0018283 biolink:NamedThing primary qualitative or quantitative defects of alpha-dystroglycan tmpaxzxjjyw_mondo_relaxed.owl primary dystroglycanopathy|primary alpha-dystroglycanopathy Orphanet:371040|ICD10:G71.2 owl:Class UBERON:0034972 biolink:NamedThing jugular body tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006081 biolink:NamedThing anal melanoma A melanoma arising from the anus. Clinical presentation includes rectal bleeding, tenesmus, pain, and change in bowel habit. The prognosis is usually poor. tmpaxzxjjyw_mondo_relaxed.owl anal melanoma|melanoma of the anus|anal malignant melanoma|melanoma of anus|anus melanoma (disease)|anus melanoma|melanoma (disease) of anus|malignant anus melanoma|malignant melanoma of anus|malignant melanoma of the anus DOID:14145|ONCOTREE:ARMM|SCTID:276821000|EFO:1000080|NCIT:C4639|UMLS:C0349538 Editor note: TODO relationship to mucosa owl:Class MONDO:0060766 biolink:NamedThing anal polyp A non-neoplastic or neoplastic polypoid lesion that arises from the anus. Representative examples include the fibroepithelial polyp and squamous papilloma. tmpaxzxjjyw_mondo_relaxed.owl polyp of anus|anal polyp|polyp of the anus UMLS:C0267573|SCTID:88580009|NCIT:C3957 owl:Class MONDO:0009074 biolink:NamedThing facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY|Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY MESH:C535985|Orphanet:1970|OMIM:220219|ICD10:Q87.8|UMLS:C1857352 owl:Class UBERON:0035763 biolink:NamedThing cavity of cardiac chamber tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010688 biolink:NamedThing skeleton of manual acropodium tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:37332 biolink:NamedThing tropane alkaloid tmpaxzxjjyw_mondo_relaxed.owl tropane alkaloids owl:Class MONDO:0033925 biolink:NamedThing pediatric-onset Graves disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:525731 owl:Class MONDO:0005364 biolink:NamedThing Graves disease Graves' disease is an autoimmune disorder that leads to overactivity of the thyroid gland (hyperthyroidism).It is caused by an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormones. Graves disease is the most common cause of hyperthyroidism andoccurs mostoften in women over age 20. However, the disorder may occur at any age and may affect males as well.Treatmentmayinclude radioiodine therapy, antithyroid drugs, and/or thyroid surgery. tmpaxzxjjyw_mondo_relaxed.owl Graves' hyperthyroidism|Graves' disease|Basedow disease|Graves disease|grave's disease|parry disease|exophthalmic goiter|Basedow's disease DOID:10719|GARD:0006549|ICD9:242.0|EFO:0004237|NCIT:C3071|SCTID:267374005|SCTID:353295004|ICD10:E05.0|OMIM:300351|MESH:D006111|DOID:12361|OMIM:603388|OMIM:275000 https://rarediseases.info.nih.gov/diseases/6549/graves-disease owl:Class MONDO:0024884 biolink:NamedThing metastatic carcinoma in the bone A carcinoma that has spread to the bone from another, primary anatomic site. Bone is one of the most frequent sites of metastatic carcinoma. Common sites of origin include lung, breast, and prostate. tmpaxzxjjyw_mondo_relaxed.owl metastatic carcinoma in the bone|metastatic carcinoma to the bone UMLS:C0700110|NCIT:C36082 owl:Class MONDO:0002415 biolink:NamedThing bone carcinoma A carcinoma that involves the bone element. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of bone element|bone element carcinoma DOID:2762 owl:Class MONDO:0016368 biolink:NamedThing Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer. tmpaxzxjjyw_mondo_relaxed.owl Poikiloderma Atrophicans and Cataract|RTS1|ROTHMUND-THOMSON SYNDROME, TYPE 1|poikiloderma of Rothmund-Thomson type 1 Orphanet:221008|ICD10:Q82.8|UMLS:CN201233|OMIM:618625 MONDO:0032840 owl:Class MONDO:0032882 biolink:NamedThing Heyn-Sproul-Jackson syndrome tmpaxzxjjyw_mondo_relaxed.owl Microcephaly, Short Stature, and Impaired Intellectual Development|HEYN-SPROUL-JACKSON SYNDROME|HESJAS OMIM:618724 owl:Class MONDO:0007079 biolink:NamedThing alcohol dependence Physical and psychological dependence on alcohol. tmpaxzxjjyw_mondo_relaxed.owl Aerodigestive tract cancer, squamous cell, alcohol-related, protection against|alcohol dependence|alcohol dependence, protection against|alcoholism OMIM:103780|DOID:0050741|KEGG:05034|EFO:0003829|SCTID:66590003|NCIT:C93040|ICD9:303.90|ICD9:305.0 owl:Class MONDO:0005303 biolink:NamedThing drug dependence Drug dependence - replaced the term "drug addiction" and is defined as a state, psychic and sometimes also physical, resulting from the interaction between a living organism and a drug, characterized by behavioral and other responses that always include a compulsion to take the drug on a continuous or periodic basis in order to experience its psychic effects, and sometimes to avoid the discomfort of its absence. Tolerance may or may not be present. A person may be dependent on more than one drug. tmpaxzxjjyw_mondo_relaxed.owl chemical dependence ICD9:304.6|SCTID:191816009|ICD9:304|ICD9:304.60|EFO:0003890|MESH:D019966|DOID:9974|ICD9:304.90|NCIT:C3894 owl:Class CL:0000501 biolink:NamedThing granulosa cell A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors. tmpaxzxjjyw_mondo_relaxed.owl granulosa cell of ovary FMA:18718|CALOHA:TS-0729|BTO:0000542 cell owl:Class GO:1902020 biolink:NamedThing negative regulation of cilium-dependent cell motility Any process that stops, prevents or reduces the frequency, rate or extent of cilium-dependent cell motility. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of ciliary cell motility|downregulation of ciliary cell motility|down regulation of ciliary cell motility|inhibition of ciliary cell motility|negative regulation of ciliary cell motility|negative regulation of cilium cell motility owl:Class HP:0000219 biolink:NamedThing Thin upper lip vermilion Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). tmpaxzxjjyw_mondo_relaxed.owl Decreased volume of upper lip|Decreased volume of upper lip vermilion|Thin vermilion border of upper lip|Thin red part of the upper lip|Thin upper lip|Decreased height of upper lip vermilion|Thin upper lips UMLS:C1865017 Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately. HP:0200062|HP:0200086 human_phenotype owl:Class UBERON:0002673 biolink:NamedThing vestibular nuclear complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29347 biolink:NamedThing KLHL15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1129771 biolink:NamedThing Leptotrichiaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:203491 biolink:NamedThing Fusobacteriales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0004601 biolink:NamedThing ulcer of lower limbs Ulcer of lower limbs is a chronic ulcer of skin where the ulcer is not a decubitus ulcer. tmpaxzxjjyw_mondo_relaxed.owl Ulcer of thigh|Ulcer of heel and midfoot|Ulcer of ankle|Ulcer of calf DOID:8529|ICD9:707.13|EFO:0007068|SCTID:419193008 owl:Class MONDO:0008762 biolink:NamedThing autosomal recessive Alport syndrome Autosomal recessive Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance. About15 percentof Alport syndrome cases are inherited in an autosomal recessive pattern and are caused bymutations in both copies of the COL4A3 or COL4A4 genes. Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed. tmpaxzxjjyw_mondo_relaxed.owl Alport syndrome autosomal recessive|Alport syndrome recessive type|nephropathy and deafness|Alport syndrome, autosomal recessive Orphanet:88919|SCTID:717767009|Orphanet:63|MedDRA:10001843|ICD10:Q87.8|DOID:0110033|OMIM:203780|GARD:0000625 https://rarediseases.info.nih.gov/diseases/625/autosomal-recessive-alport-syndrome owl:Class ENVO:01000319 biolink:NamedThing rocky slope A rocky slope is a slope which has a surface primarily composed of rock. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:779 biolink:NamedThing ATCAY tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002928 biolink:NamedThing dentate gyrus polymorphic layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002304 biolink:NamedThing layer of dentate gyrus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011458 biolink:NamedThing Leber congenital amaurosis 4 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene. tmpaxzxjjyw_mondo_relaxed.owl Leber congenital amaurosis type 4|retinitis pigmentosa, juvenile, Aipl1-related|cone-rod dystrophy, Aipl1-related|Leber congenital amaurosis caused by mutation in AIPL1|AIPL1 Leber congenital amaurosis|amaurosis congenita of Leber, type 4|LCA4|Leber congenital amaurosis 4 Orphanet:65|UMLS:C1858386|DOID:0110332|GARD:0009662|ICD10:H35.5|MESH:C565778|Orphanet:791|Orphanet:1872|OMIM:604393 https://rarediseases.info.nih.gov/diseases/9662/leber-congenital-amaurosis-4 owl:Class NBO:0000455 biolink:NamedThing attention behavior "The sustained focus of cognitive resources on information while filtering or ignoring extraneous information. Intended to encompass only attention to perceptual stimuli. " [wikipedia:Attention] tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015368 biolink:NamedThing neuro-ophthalmological disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:140653|UMLS:CN199459 owl:Class MONDO:0018601 biolink:NamedThing autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237631|Orphanet:440354 owl:Class UBERON:0011976 biolink:NamedThing epiphysis of distal phalanx of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004446 biolink:NamedThing epiphysis of phalanx tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002110 biolink:NamedThing B220-low CD38-positive naive B cell A B220-low CD38-positive naive B cell is a CD38-positive naive B cell that has the phenotype B220-low, CD38-positive, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0030702 biolink:NamedThing autoimmune atherosclerosis An autoimmune form of atherosclerosis. tmpaxzxjjyw_mondo_relaxed.owl DOID:0040096 owl:Class MONDO:0010378 biolink:NamedThing X-linked hereditary sensory and autonomic neuropathy with hearing loss This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. tmpaxzxjjyw_mondo_relaxed.owl X-linked hereditary sensory and autonomic neuropathy with deafness|X-linked HSAN with deafness|DFNX5|auditory neuropathy, X-linked, 1, with peripheral sensory neuropathy|deafness, X-linked 5|X-linked auditory neuropathy with peripheral sensory neuropathy type 1 Orphanet:139583|SCTID:719838008|UMLS:C1845095|MESH:C564472|ICD10:G60.8|GARD:0012731|UMLS:C4304400|OMIM:300614 https://rarediseases.info.nih.gov/diseases/12731/x-linked-hereditary-sensory-and-autonomic-neuropathy-with-deafness owl:Class UBERON:0008775 biolink:NamedThing proximal epiphysis of fibula tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004388 biolink:NamedThing epiphysis of fibula tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007420 biolink:NamedThing autosomal dominant deafness - onychodystrophy syndrome Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges. tmpaxzxjjyw_mondo_relaxed.owl deafness, congenital, with onychodystrophy, autosomal dominant|Robinson-Miller-Bensimon syndrome|deafness and onychodystrophy, dominant form|autosomal dominant deafness-onychodystrophy syndrome|familial ectodermal dysplasia with sensori-neural deafness and other anomalies|deafness-onychodystrophy syndrome, autosomal dominant|DDOD|DDOD syndrome|deafness, congenital, and onychodystrophy, autosomal dominant|Robinson Miller Bensimon syndrome|Ddod syndrome ICD10:Q87.8|OMIM:124480|UMLS:C2675730|GARD:0004732|Orphanet:79499|Orphanet:3231 https://rarediseases.info.nih.gov/diseases/4732/autosomal-dominant-deafness-onychodystrophy-syndrome owl:Class UBERON:0003841 biolink:NamedThing autopod joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004516 biolink:NamedThing bulbomembranous urethral cancer tmpaxzxjjyw_mondo_relaxed.owl bulbomembranous urethral malignant neoplasm NCIT:C39869|DOID:8259|UMLS:C1511339 owl:Class MONDO:0019017 biolink:NamedThing short fifth metacarpals-insulin resistance syndrome Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205478|Orphanet:66518|ICD10:E13 owl:Class HP:0002983 biolink:NamedThing Micromelia The presence of abnormally small extremities. tmpaxzxjjyw_mondo_relaxed.owl Smaller or shorter than typical limbs SNOMEDCT_US:74370006|MEDDRA:10027546|UMLS:C0025995 HP:0005753|HP:0003030 human_phenotype owl:Class HP:0009826 biolink:NamedThing Limb undergrowth Limb shortening because of underdevelopment of one or more bones of the extremities. tmpaxzxjjyw_mondo_relaxed.owl Limb undergrowth|Hypoplasia involving bones of the extremities|Short limb|Short limbs|limb shortening UMLS:C0239399 doelkens 2009-02-23T05:16:44Z HP:0003058|HP:0005057|HP:0005049 human_phenotype owl:Class MONDO:0002969 biolink:NamedThing ciliary body cancer A malignant neoplasm involving the ciliary body. tmpaxzxjjyw_mondo_relaxed.owl cancer of ciliary body|ciliary body cancer|malignant ciliary body tumor|tumor of the ciliary body|malignant tumor of ciliary body|malignant ciliary body neoplasm|malignant tumor of the ciliary body|malignant neoplasm of the ciliary body|malignant neoplasm of ciliary body NCIT:C4766|UMLS:C0339349|ICD10:C69.4|UMLS:C0496833|SCTID:188263008|DOID:4352|NCIT:C4364 owl:Class MONDO:0021229 biolink:NamedThing ciliary body neoplasm A neoplasm (disease) that involves the ciliary body. tmpaxzxjjyw_mondo_relaxed.owl ciliary body neoplasm (disease)|neoplasm of the ciliary body|ciliary body tumor|tumor of ciliary body|tumor of the ciliary body|neoplasm of ciliary body NCIT:C4364|UMLS:C0339349 owl:Class MONDO:0003633 biolink:NamedThing malignant mesenchymoma A term describing a malignant soft tissue tumor which consists of two or more mesenchymal lines of differentiation, excluding a fibroblastic line of differentiation. tmpaxzxjjyw_mondo_relaxed.owl mesenchymoma, malignant (morphologic abnormality)|mesenchymoma, malignant ICDO:8990/3|DOID:5758|NCIT:C4268|GARD:0003369 owl:Class GO:0090181 biolink:NamedThing regulation of cholesterol metabolic process Any process that modulates the rate, frequency, or extent of cholesterol metabolism, the chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019490 biolink:NamedThing progressive familial heart block A hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, dizziness, syncope, abdominal pain, heart failure or sudden death. tmpaxzxjjyw_mondo_relaxed.owl familial PCCD|familial progressive cardiac conduction defect|familial progressive heart block|familial Lenègre disease|hereditary bundle branch defect|familial Lev-Lenègre disease|familial Lenegre disease|PFHB|familial Lev disease|familial Lev-Lenegre disease OMIM:113900|ICD9:426.6|UMLS:CN206278|SCTID:93130009|OMIM:140400|OMIM:612838|DOID:0111073|OMIM:115080|Orphanet:871|OMIMPS:113900|OMIM:604559|ICD10:I45.8|GARD:0010005|SCTID:698249005 owl:Class NCBITaxon:1980517 biolink:NamedThing Orthonairovirus tmpaxzxjjyw_mondo_relaxed.owl Nairovirus|Nairoviruses GC_ID:1 NCBITaxon:11592 ncbi_taxonomy owl:Class HGNC:8923 biolink:NamedThing PHGDH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003760 biolink:NamedThing pediatric ovarian germ cell tumor A germ cell tumor that arises from the ovary and occurs in children. tmpaxzxjjyw_mondo_relaxed.owl childhood ovarian germ cell tumor|childhood ovarian germ cell neoplasm|ovarian germ cell tumor|pediatric ovarian germ cell tumor|pediatric ovarian germ cell neoplasm|ovarian germ cell tumor of childhood UMLS:C0796664|DOID:6084|NCIT:C8588 owl:Class MONDO:0011366 biolink:NamedThing ovarian germ cell tumor A neoplasm that arises from the ovary and originates from germ cells. Representative examples include teratoma, embryonal carcinoma, yolk sac tumor, and dysgerminoma. tmpaxzxjjyw_mondo_relaxed.owl ovarian germ cell cancer|germ cell neoplasm of the ovary|germ cell neoplasm of ovary|ovarian germ cell tumor|ovarian germ cell neoplasm|germ cell tumor of the ovary|germ cell tumor of ovary|ovary germ cell tumor EFO:1000419|UMLS:C0238324|GARD:0009330|NCIT:C3873|Orphanet:35807|DOID:2156|ONCOTREE:OGCT|UMLS:C0346180|SCTID:237059008|OMIM:603737|ICD9:239.5 Editor note: we make this equivalent to DOID:2156, despite the fact the DOID has 'cancer' in the label it's placement in the ontology is consistent with the broader 'tumor' owl:Class UBERON:0004590 biolink:NamedThing sphincter muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000787 biolink:NamedThing memory B cell A memory B cell is a mature B cell that is long-lived, readily activated upon re-encounter of its antigenic determinant, and has been selected for expression of higher affinity immunoglobulin. This cell type has the phenotype CD19-positive, CD20-positive, MHC Class II-positive, and CD138-negative. tmpaxzxjjyw_mondo_relaxed.owl memory B lymphocyte|memory B-lymphocyte|memory B-cell Memory B-cells are also reportedly CD5-negative, CD10-negative, CD21-positive, CD22-positive, CD23-negative, CD24-positive, CD25-positive, CD27-positive, CD34-negative, CD38-negative, CD40-positive, CD43-negative, CD44-positive, CD45-positive, CD53-positive, CD80-negative, CD81-negative, CD86-positive, and CD196/CCR6-positive. cell owl:Class HGNC:25740 biolink:NamedThing CEP78 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016991 biolink:NamedThing acute necrotizing encephalopathy of childhood Acute necrotizing encephalopathy of childhood is a rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointesitnal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases. tmpaxzxjjyw_mondo_relaxed.owl ANEC|isolated ANE|isolated acute necrotizing encephalopathy SCTID:763310000|Orphanet:263524|OMIM:614212|ICD10:G31.8 owl:Class NCBITaxon:51028 biolink:NamedThing Enterobius vermicularis tmpaxzxjjyw_mondo_relaxed.owl human pinworm GC_ID:1 ncbi_taxonomy owl:Class GO:0010185 biolink:NamedThing regulation of cellular defense response Any process that modulates the frequency, rate or extent of cellular defense response. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular defence response owl:Class MONDO:0011359 biolink:NamedThing acromelic frontonasal dysostosis Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism. tmpaxzxjjyw_mondo_relaxed.owl AFND|Toriello syndrome|acromelic frontonasal dysostosis|frontonasal dysplasia acromelic|acromelic frontonasal dysplasia MESH:C566345|DOID:0060342|SCTID:715427008|OMIM:603671|Orphanet:1827|ICD10:Q75.8|GARD:0005539|GARD:0002393|UMLS:C1863616 https://rarediseases.info.nih.gov/diseases/2393/frontonasal-dysplasia-acromelic owl:Class MONDO:0012674 biolink:NamedThing age related macular degeneration 10 Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene. tmpaxzxjjyw_mondo_relaxed.owl macular degeneration, age-related, 10|ARMD10|macular Degeneration, age-related, type 10|TLR4 age-related macular degeneration|age-related macular degeneration caused by mutation in TLR4|age related macular degeneration type 10 DOID:0110022|MESH:C566935|UMLS:C1969108|OMIM:611488 owl:Class MONDO:0002939 biolink:NamedThing skin pigmented basal cell carcinoma A basal cell carcinoma that contains large amounts of melanin. The melanin is produced by symbiotic nontumoral proliferating melanocytes. - 2002. tmpaxzxjjyw_mondo_relaxed.owl pigmented basal cell carcinoma|skin pigmented basal cell carcinoma DOID:4282|UMLS:C1368275|NCIT:C9359|SCTID:403909004 owl:Class MONDO:0007384 biolink:NamedThing congenital trigeminal anesthesia Congenital trigeminal anesthesia is a rare neuro-ophtalmological disorder characterized by a congenital sensory deficit involving all or some of the sensory components of the trigeminal nerve. Due to corneal anesthesia, it usually presents with recurrent, painless eye infections, painless corneal opacities and/or poorly healing, ulcerated wounds on the facial skin and mucosa (typically the buccal mucosa and/or nasal septum). tmpaxzxjjyw_mondo_relaxed.owl trigeminal anesthesia, familial|familial trigeminal anesthesia|corneal hypesthesia, familial ICD10:G50.8|Orphanet:231013|GARD:0010034|UMLS:C1852541|OMIM:122450|MESH:C536440|SCTID:763218005 owl:Class UBERON:0010499 biolink:NamedThing pseudostratified ciliated columnar epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000357 biolink:NamedThing stratified epithelial stem cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0007089 biolink:NamedThing Alzheimer disease 2 An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer disease associated with APOE4|late-onset familial alzheimer disease|Alzheimer's disease type 2|Alzheimer disease 2, late-onset|AD2|Alzheimer's disease 2|Alzheimer disease type 2|LOFAD|Alzheimer disease-2|Alzheimer disease associated with APOE E4|Alzheimer disease 2|Alzheimer disease 2, late onset|late onset Alzheimer disease|late onset familial Alzheimer disease Orphanet:1020|DOID:0110035|GARD:0009467|ICD10:G30|GARD:0012799|OMIM:104310|MESH:C536595|UMLS:C1863051 owl:Class MONDO:0100087 biolink:NamedThing familial Alzheimer disease A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer disease, familial|GARD:0000632|FAD http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010491 biolink:NamedThing X-linked acrogigantism due to Xq26 microduplication tmpaxzxjjyw_mondo_relaxed.owl chromosome Xq26.3 DUPLICATION syndrome|familial infantile gigantism due to Xq26 microduplication|familial infantile gigantism due to dup(X)q(26)|chromosome Xq26 microduplication syndrome|X-linked acrogigantism|X-LAG (X-linked acrogigantism) due to dup(X)q(26) UMLS:CN237731|SCTID:768472004|UMLS:C3891556|ICD10:E22.0|Orphanet:300373|Orphanet:448372|OMIM:300942 owl:Class MONDO:0017581 biolink:NamedThing familial infantile gigantism tmpaxzxjjyw_mondo_relaxed.owl hereditary pituitary hyperplasia|infantile gigantism due to pituitary hyperplasia|X-LAG (X-linked acrogigantism)|hereditary infantile gigantism ICD10:E22.0|Orphanet:300373|OMIM:300942|UMLS:CN203384 owl:Class UBERON:0004909 biolink:NamedThing epithelium of gonad tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010665 biolink:NamedThing Wilson-Turner syndrome Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked, with gynecomastia and obesity (formerly)|intellectual disability, X-linked, syndromic 6|mental retardation, X-linked, with gynecomastia and obesity (formerly)|WTS|mental retardation, X-linked, with gynecomastia and obesity|MRXS6|mental retardation, X-linked, syndromic 6|intellectual disability, X-linked, syndromic 6 (formerly)|Wilson-TURNER X-linked mental retardation syndrome|X-linked intellectual disability - gynecomastia - obesity|intellectual disability, X-linked, with gynecomastia and obesity|Wilson-TURNER X-linked intellectual disability syndrome|mental retardation, X-linked, syndromic 6 (formerly)|Wilson Turner mental retardation syndrome (formerly)|X-linked intellectual disability-gynecomastia-obesity syndrome|Wilson Turner intellectual disability syndrome (formerly) Orphanet:3459|MESH:C536708|OMIM:309585|SCTID:719834005|GARD:0005579|DOID:0060814 https://rarediseases.info.nih.gov/diseases/5579/wilson-turner-syndrome owl:Class MONDO:0019346 biolink:NamedThing sialidosis type 1 Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life. tmpaxzxjjyw_mondo_relaxed.owl lipomucopolysaccharidosis|sialidosis type I|cherry red spot myoclonus syndrome|myoclonus cherry red spot syndrome|Normomorphic sialidosis|cherry-red spot-myoclonus syndrome|normosomatic sialidosis UMLS:CN206021|SCTID:34960006|GARD:0007639|Orphanet:812|UMLS:C0023806|ICD10:E77.1|OMIM:256550 owl:Class MONDO:0003336 biolink:NamedThing acute necrotizing encephalitis A fulminant and often fatal demyelinating disease of the brain which primarily affects young adults and children. Clinical features include the rapid onset of weakness, seizures, and coma. It may follow a viral illness or mycoplasma pneumoniae infections but in most instances there is no precipitating event. Pathologic examination reveals marked perivascular demyelination and necrosis of white matter with microhemorrhages. (Adams et al., Principles of Neurology, 6th ed, pp924-5) tmpaxzxjjyw_mondo_relaxed.owl ANE|acute necrotizing encephalopathy|acute necrotizing encephalitis UMLS:C0338418|NCIT:C35383|DOID:5222|SCTID:111897007|ICD9:049.8|GARD:0013233 owl:Class MONDO:0003837 biolink:NamedThing TSH producing pituitary tumor An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces thyrotropin. tmpaxzxjjyw_mondo_relaxed.owl TSH secreting tumor of the pituitary gland|TSH-producing pituitary gland neoplasm|TSH secreting tumor of the pituitary|TSH secreting neoplasm of pituitary gland|TSH producing pituitary neoplasm|TSH producing pituitary gland tumor|thyrotropin-secreting pituitary adenoma|TSH secreting tumor of pituitary gland|thyrotroph adenoma|thyroid stimulating hormone producing neoplasm of pituitary|thyroid stimulating hormone secreting neoplasm of the pituitary|thyrotropin producing pituitary gland neoplasm|thyroid stimulating hormone producing tumor of the pituitary gland|thyroid stimulating hormone secreting pituitary tumor|thyroid stimulating hormone secreting pituitary gland tumor|thyroid stimulating hormone secreting tumor of pituitary gland|thyroid stimulating hormone producing pituitary gland neoplasm|TSH secreting neoplasm of the pituitary gland|TSH secreting pituitary neoplasm|TSH-producing pituitary gland tumor|TSH secreting pituitary gland tumor|thyroid stimulating hormone producing neoplasm of the pituitary gland|thyroid stimulating hormone producing neoplasm of pituitary gland|TSH secreting tumor of pituitary|TSH-oma|TSH secreting pituitary gland neoplasm|thyroid stimulating hormone producing tumor of pituitary gland|thyroid stimulating hormone secreting tumor of the pituitary|thyroid stimulating hormone producing pituitary gland tumor|thyroid stimulating hormone producing pituitary tumor|TSH secreting neoplasm of the pituitary|thyroid stimulating hormone secreting tumor of the pituitary gland|thyroid stimulating hormone producing pituitary neoplasm|thyroid stimulating hormone secreting neoplasm of the pituitary gland|TSH producing tumor of pituitary|TSH secreting adenoma of the pituitary|thyroid stimulating hormone producing neoplasm of the pituitary|TSH producing neoplasm of pituitary gland|TSH producing tumor of the pituitary gland|TSH producing neoplasm of the pituitary gland|thyroid stimulating hormone secreting neoplasm of pituitary gland|TSH producing tumor of pituitary gland|thyroid stimulating hormone producing tumor of pituitary|thyroid stimulating hormone secreting pituitary neoplasm|thyroid stimulating hormone secreting pituitary gland neoplasm|TSH producing pituitary tumor|thyroid stimulating hormone producing tumour|TSH producing neoplasm of the pituitary|TSH producing pituitary gland neoplasm|TSH producing neoplasm of pituitary|thyroid stimulating hormone producing tumor of the pituitary|TSH secreting neoplasm of pituitary|thyroid stimulating hormone secreting neoplasm of pituitary|TSH producing tumor of the pituitary|thyroid stimulating hormone secreting tumor of pituitary|TSH secreting pituitary tumor DOID:6275|NCIT:C7915|UMLS:C2362538|NCIT:C8011|UMLS:C0346303|SCTID:254959007 owl:Class MONDO:0008313 biolink:NamedThing pelvic organ prolapse, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl pelvic organ prolapse, susceptibility to, 1|vaginal prolapse|rectal prolapse|pelvic organ prolapse, susceptibility to|prolapse of vagina and rectum OMIM:176780 owl:Class NCBITaxon:83141 biolink:NamedThing Parasitengona tmpaxzxjjyw_mondo_relaxed.owl velvet mites|Parasitengonae GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:83138 biolink:NamedThing Anystina tmpaxzxjjyw_mondo_relaxed.owl Anystides GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004619 biolink:NamedThing measles A highly contagious viral infection caused by the measles virus. Symptoms appear 8-12 days after exposure and include a rash, cough, fever and muscle pains that can last 4-7 days. Measles vaccines are available to provide prophylaxis, usually combined with mumps and rubella vaccines (MMR). tmpaxzxjjyw_mondo_relaxed.owl Measles morbillivirus disease or disorder|Measles morbillivirus infectious disease|Measles morbillivirus caused disease or disorder|rubeola infection|rubeola|morbilli SCTID:14189004|MESH:D008457|ICD10:B05|DOID:8622|UMLS:C0025007|NCIT:C96406|ICD10:B05.9|EFO:1002025|ICD9:055|GARD:0003434 https://rarediseases.info.nih.gov/diseases/3434/measles owl:Class MONDO:0014113 biolink:NamedThing cardiofaciocutaneous syndrome 3 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene. tmpaxzxjjyw_mondo_relaxed.owl MAP2K1 cardiofaciocutaneous syndrome|CFC3|cardiofaciocutaneous syndrome caused by mutation in MAP2K1|cardiofaciocutaneous syndrome 3|cardiofaciocutaneous syndrome type 3 UMLS:C3809006|DOID:0111462|OMIM:615279|Orphanet:1340 owl:Class HP:0012091 biolink:NamedThing Abnormality of pancreas physiology An anomaly of the function of the pancreas. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023048 peter 2012-08-20T09:17:10Z human_phenotype owl:Class MONDO:0011117 biolink:NamedThing iris pigment epithelium anomalies tmpaxzxjjyw_mondo_relaxed.owl ruffles and cysts of iris pigment epithelium|cysts of iris pigment epithelium|iris pigment epithelium anomalies MESH:C566651|UMLS:C1866608|OMIM:601616 owl:Class MONDO:0016713 biolink:NamedThing central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor A rare Ewing sarcoma/peripheral primitive neuroectodermal tumor that affects the central nervous system either as a primary dural neoplasm or by direct extension from adjacent soft tissues or bone. tmpaxzxjjyw_mondo_relaxed.owl central nervous system PNET|central nervous system primitive neuroectodermal tumor|CNS PNET|central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor NCIT:C129537|MedDRA:10057846|Orphanet:251870 Editor note: this is a leaf class in NCIT but Orphanet includes various classifications, e.g. ependymoblastoma owl:Class MONDO:0021038 biolink:NamedThing Ewing sarcoma/peripheral primitive neuroectodermal tumor A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. tmpaxzxjjyw_mondo_relaxed.owl Ewing sarcoma/peripheral primitive neuroectodermal tumor|Ewing sarcoma family of tumors|tumors of the Ewing's family|Ewing's sarcoma/peripheral primitive neuroectodermal tumor|Ewing family of tumors|Ewing sarcoma/peripheral PNET|EFTs|tumors of Ewing's family|Ewing's family of tumours|Ewing's family of tumors NCIT:C27291|UMLS:C3536893|UMLS:C0684337 owl:Class UBERON:0002428 biolink:NamedThing limb bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008847 biolink:NamedThing atrichia with papular lesions Atrichia with papular lesions is a rare inherited form of alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body, later associated with the development of papular lesions all over the body and preferentially on the face and extensor surfaces of the extremities. tmpaxzxjjyw_mondo_relaxed.owl APL|atrichia with papular lesions|papular atrichia DOID:0060689|UMLS:C1859592|OMIM:209500|SCTID:715963002|ICD10:L65.8|MESH:C565924|Orphanet:86819 owl:Class NCBITaxon:33988 biolink:NamedThing Rickettsieae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:8240958|PMID:11760958 ncbi_taxonomy owl:Class NCBITaxon:775 biolink:NamedThing Rickettsiaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:2592342|PMID:8240958|PMID:11760958 ncbi_taxonomy owl:Class GO:2000194 biolink:NamedThing regulation of female gonad development Any process that modulates the frequency, rate or extent of female gonad development. tmpaxzxjjyw_mondo_relaxed.owl regulation of ovary development|regulation of ovarian development owl:Class GO:1905939 biolink:NamedThing regulation of gonad development Any process that modulates the frequency, rate or extent of gonad development. tmpaxzxjjyw_mondo_relaxed.owl regulation of gonadogenesis owl:Class HP:0005561 biolink:NamedThing Abnormality of bone marrow cell morphology An anomaly of the form or number of cells in the bone marrow. tmpaxzxjjyw_mondo_relaxed.owl Bone marrow disease|Anomaly of the bone marrow cells UMLS:C0005956|UMLS:C4021634|MSH:D001855|SNOMEDCT_US:127035006 peter 2008-03-27T10:46:00Z human_phenotype owl:Class ECTO:0500025 biolink:NamedThing exposure to manufactured product A exposure event involving the interaction of an exposure receptor to manufactured product. tmpaxzxjjyw_mondo_relaxed.owl manufactured product exposure owl:Class MONDO:0016754 biolink:NamedThing vestibular schwannoma Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness. tmpaxzxjjyw_mondo_relaxed.owl vestibular schwannoma (disease)|acoustic neuroma|vestibular schwannoma|acoustic neurilemoma|acoustic neurinoma vestibular schwannoma (disease) 2022-03-01 ICD10:D33.3|Orphanet:252175|MedDRA:10000523|HP:0009588 Reason: duplicate. This will be merged with MONDO:0001569 owl:Class GO:0015693 biolink:NamedThing magnesium ion transport The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl magnesium transport owl:Class MONDO:0006435 biolink:NamedThing submandibular gland adenocarcinoma An adenocarcinoma that arises from the submandibular gland. Representative examples include polymorphic low-grade adenocarcinoma and acinic cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of submandibular gland|adenocarcinoma of the submandibular gland|submandibular gland adenocarcinoma EFO:1000554|UMLS:C1336521|NCIT:C5940 owl:Class UBERON:0005055 biolink:NamedThing zone of long bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2995 biolink:NamedThing DPAGT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014093 biolink:NamedThing retinitis pigmentosa 66 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 66|retinitis pigmentosa 66|RBP3 retinitis pigmentosa|RP66|retinitis pigmentosa caused by mutation in RBP3 ICD10:H35.5|Orphanet:791|DOID:0110393|OMIM:615233|UMLS:C3715216 owl:Class MONDO:0011856 biolink:NamedThing spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl SmD with bowed forearms and Facial Dysmorphism|SmD with with bowed forearms and facial dysmorphism|spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism ICD10:Q77.8|Orphanet:168552|GARD:0008719|OMIM:607543|MESH:C535791|UMLS:C1843706 owl:Class MONDO:0019144 biolink:NamedThing hereditary thrombophilia due to congenital protein S deficiency Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S. tmpaxzxjjyw_mondo_relaxed.owl severe hereditary thrombophilia due to congenital protein S deficiency|hereditary thrombophilia due to congenital protein S deficiency|autosomal recessive thrombophilia due to congenital protein S deficiency ICD10:D68.5|OMIM:612336|Orphanet:743|OMIM:614514 owl:Class FOODON:03420177 biolink:NamedThing gluten Extract, concentrate or isolate high in gluten, the predominant protein of wheat or corn. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=C0177 http://langual.org owl:Class MONDO:0022414 biolink:NamedThing allain-babin-demarquez syndrome tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis synostoses hypertensive nephropathy|acro cephalo synostosis Orphanet:1526|GARD:0000124 https://rarediseases.info.nih.gov/diseases/124/allain-babin-demarquez-syndrome owl:Class NCBITaxon:555864 biolink:NamedThing unclassified Bornaviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:178830 biolink:NamedThing Bornaviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:25449305 ncbi_taxonomy owl:Class MONDO:0016727 biolink:NamedThing extraventricular neurocytoma Extraventricular neurocytoma (EVN), a variant of central neurocytoma, is a rare neuronal neoplasm, composed of round cells with neuronal differentiation, which is located outside of the ventricular system, usually within the spinal cord or cerebral hemispheres and that manifests with headache, nausea, vomiting, complex partial seizures or focal neurological deficits. In some cases it may exhibit atypical features consistent with aggressive clinical behavior. tmpaxzxjjyw_mondo_relaxed.owl extraventricular neurocytoma (WHO grade II)|EVN UMLS:C2985175|Orphanet:251927|ONCOTREE:EVN|NCIT:C92555|SCTID:716787002|ICDO:9506/1|UMLS:CN201975 owl:Class UBERON:0015010 biolink:NamedThing sacral vertebra endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002540 biolink:NamedThing childhood oligodendroglioma An oligodendroglioma that arises from the central nervous system and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl oligodendroglioma|oligodendroglioma of childhood|pediatric oligodendroglioma NCIT:C4045|MESH:D009837|DOID:3183|UMLS:C0280475 owl:Class MONDO:0009333 biolink:NamedThing mullerian derivatives-lymphangiectasia-polydactyly syndrome Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure. tmpaxzxjjyw_mondo_relaxed.owl MULLERIAN derivatives, persistence of, with lymphangiectasia and postaxial polydactyly|renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly|persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly|Müllerian derivatives-lymphangiectasia-polydactyly syndrome|Urioste syndrome Orphanet:1655|MESH:C536478|GARD:0005430|UMLS:C1856159|OMIM:235255 owl:Class HP:0003111 biolink:NamedThing Abnormal blood ion concentration Abnormality of the homeostasis (concentration) of a monoatomic ion. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of ion homeostasis|Electrolyte disorders UMLS:C1704431|SNOMEDCT_US:237840007|UMLS:C4025654 HP:0003253 human_phenotype owl:Class MONDO:0011414 biolink:NamedThing Peters anomaly Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane. tmpaxzxjjyw_mondo_relaxed.owl Peters anomaly (disease)|anterior segment dysgenesis 5|Peters congenital glaucoma|ASGD5|Peters anomaly Peters anomaly (disease) DOID:0060673|OMIM:612968|ICD10:Q13.4|MedDRA:10059202|Orphanet:708|GARD:0007377|MESH:C537884|ICD9:743.44|OMIM:604229|HP:0000659|SCTID:204153003 owl:Class MONDO:0003704 biolink:NamedThing uterine corpus diffuse leiomyomatosis An unusual condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body of the uterus. tmpaxzxjjyw_mondo_relaxed.owl uterine corpus diffuse leiomyomatosis|body of uterus leiomyomatosis|leiomyomatosis of body of uterus|uterine corpus leiomyomatosis NCIT:C40170|UMLS:C1519855|DOID:5917|DOID:5916 owl:Class MONDO:0003295 biolink:NamedThing leiomyomatosis A condition characterized by the presence of numerous small benign smooth muscle neoplasms located throughout the body. tmpaxzxjjyw_mondo_relaxed.owl leiomyomatosis, no ICD-O subtype (morphologic abnormality)|leiomyomatosis|leiomyomatosis, no ICD-O subtype NCIT:C3748|ICDO:8890/1|DOID:5138|UMLS:C0206654|MESH:D018231 owl:Class UBERON:0001752 biolink:NamedThing enamel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:4000013 biolink:NamedThing mineralized skeletal tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010026 biolink:NamedThing ventral part of pharyngeal pouch 3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:28862 biolink:NamedThing NIPBL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020468 biolink:NamedThing paternal uniparental disomy of chromosome 13 Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. tmpaxzxjjyw_mondo_relaxed.owl UPD(13)pat|paternal uniparental disomy of chromosome type 13 Orphanet:99324|ICD10:Q99.8 owl:Class MONDO:0021510 biolink:NamedThing benign neoplasm of prostate A benign neoplasm that involves the prostate gland. tmpaxzxjjyw_mondo_relaxed.owl benign prostate tumor|benign tumor of the prostate|prostate gland benign neoplasm|benign prostate neoplasm|benign tumor of prostate|benign neoplasm of the prostate|benign prostatic neoplasm ICD10:D29.1|NCIT:C3613|SCTID:92308005|UMLS:C0154009|ICD9:222.2 owl:Class MONDO:0003245 biolink:NamedThing aflatoxin-related hepatocellular carcinoma A hepatocellular carcinoma that develops following exposure to aflatoxin. tmpaxzxjjyw_mondo_relaxed.owl aflatoxins-related hepatocellular cancer|aflatoxins-related hepatocellular carcinoma DOID:5022|UMLS:C1332222|NCIT:C27922 owl:Class CHEBI:33352 biolink:NamedThing manganese group element atom tmpaxzxjjyw_mondo_relaxed.owl group 7 elements|manganese group elements|manganese group element owl:Class UBERON:0007529 biolink:NamedThing loose mesenchyme tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043254 biolink:NamedThing regulation of protein-containing complex assembly Any process that modulates the frequency, rate or extent of protein complex assembly. tmpaxzxjjyw_mondo_relaxed.owl regulation of protein complex assembly owl:Class MONDO:0016283 biolink:NamedThing leiomyosarcoma of the cervix uteri Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor of smooth muscle origin, macroscopically appearing as a large, poorly circumscribed mass, often protruding from the cervical canal or expanding it circumferentially. The most common presenting symptoms are vaginal discharge or bleeding, pain in the lower abdomen and a bulky cervical mass. There is a reported tendency to metastatsize hematogenously, especially to the lungs, peritoneum, bones and the liver. tmpaxzxjjyw_mondo_relaxed.owl cervical leiomyosarcoma|CELI|leiomyosarcoma of uterine cervix|uterine cervix leiomyosarcoma Orphanet:213807|ICD10:C53.8|SCTID:763771009|ONCOTREE:CELI|ICD10:C53.0|NCIT:C128047|UMLS:CN201073|UMLS:C4289817|ICD10:C53.1 owl:Class MONDO:0016280 biolink:NamedThing sarcoma of cervix uteri A sarcoma involving a uterine cervix. tmpaxzxjjyw_mondo_relaxed.owl uterine cervix sarcoma|sarcoma of uterine cervix|cervical malignant mesenchymal tumor|cervical sarcoma|malignant mesenchymal tumor of cervix uteri ICD10:C53.1|Orphanet:213797|ICD10:C53.8|ICD10:C53.0|UMLS:CN201070 owl:Class MONDO:0013745 biolink:NamedThing Joubert syndrome 14 Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene. tmpaxzxjjyw_mondo_relaxed.owl TMEM237 Joubert syndrome|Joubert syndrome type 14|JBTS14|Joubert syndrome caused by mutation in TMEM237|Joubert syndrome 14 DOID:0110983|Orphanet:220497|Orphanet:220493|OMIM:614424|Orphanet:475|UMLS:C3280766|Orphanet:2318 owl:Class UBERON:0004395 biolink:NamedThing epiphysis of first metatarsal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004727 biolink:NamedThing vestibule of mouth cancer A cancer that involves the oral opening. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of oral opening|oral opening cancer|malignant tumor of vestibule of mouth|cancer of oral opening|malignant oral opening neoplasm|malignant neoplasm of vestibule of mouth UMLS:C0153374|SCTID:187658004|ICD9:145.1|ICD10:C06.1|DOID:9188 owl:Class MONDO:0041295 biolink:NamedThing acute papillary necrosis Acute form of kidney papillary necrosis. tmpaxzxjjyw_mondo_relaxed.owl acute renal medullary necrosis|acute kidney papillary necrosis|acute papillary necrosis|acute necrotizing papillitis|kidney papillary necrosis, acute SCTID:270494003 owl:Class MONDO:0006001 biolink:NamedThing urinary schistosomiasis A bladder infection that occurs as a manifetation of a systemic infection with one or more species of the parasitic worms of the Schistosoma type; this can progress to bladder cancer in time. tmpaxzxjjyw_mondo_relaxed.owl schistosomiasis of bladder|Schistosoma hematobium infectious disease|Schistosoma haematobium (& vesical schistosomiasis)|schistosomiasis due to Schistosoma haematobium|vesical schistosomiasis|cystitis with bilharziasis|bladder schistosomiasis|Schistosoma haematobium|Schistosoma haematobium infection|Schistosoma hematobium infection|urinary schistosomiasis|urinary bladder schistosomiasis DOID:1394|NCIT:C39294|MESH:D012553|EFO:0007530|SCTID:236706006|ICD9:120.0|UMLS:C0276926|UMLS:C1704430 owl:Class GO:0062125 biolink:NamedThing regulation of mitochondrial gene expression Any process that modulates the frequency, rate or extent of mitochondrial gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000692 biolink:NamedThing kidney interstitial fibroblast tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001102 cell owl:Class CL:1000500 biolink:NamedThing kidney interstitial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001013 cell owl:Class HGNC:21498 biolink:NamedThing ATG16L1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:203691 biolink:NamedThing Spirochaetes tmpaxzxjjyw_mondo_relaxed.owl Spirochaetaeota|Spirochaetota|Spirochaetae GC_ID:11|PMID:11837318|PMID:26654112|PMID:29458499 ncbi_taxonomy owl:Class PATO:0000963 biolink:NamedThing opaque A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy. tmpaxzxjjyw_mondo_relaxed.owl clouding|non-transparent|cloudy owl:Class MONDO:0016861 biolink:NamedThing Alagille syndrome due to 20p12 microdeletion tmpaxzxjjyw_mondo_relaxed.owl Alagille-Watson syndrome due to monosomy 20p12|syndromic bile duct paucity due to monosomy 20p12|Alagille syndrome due to monosomy 20p12|Alagille syndrome due to del(20)(p12)|Arteriohepatic dysplasia due to monosomy 20p12 OMIM:118450|Orphanet:261600|ICD10:Q44.7|UMLS:CN202205 owl:Class HGNC:17348 biolink:NamedThing PRPF3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002850 biolink:NamedThing central nervous system rhabdomyosarcoma A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl rhabdomyosarcoma of the central nervous system|rhabdomyosarcoma of the CNS|central nervous system rhabdomyosarcoma|rhabdomyosarcoma (disease) of central nervous system|rhabdomyosarcoma of CNS|rhabdomyosarcoma of central nervous system|CNS rhabdomyosarcoma|central nervous system rhabdomyosarcoma (disease) NCIT:C5464|UMLS:C1332891|DOID:4048 owl:Class UBERON:0004949 biolink:NamedThing submucosa of main bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33560 biolink:NamedThing p-block element atom Any main group element atom belonging to the p-block of the periodic table. tmpaxzxjjyw_mondo_relaxed.owl p-block elements|p-block element owl:Class HP:0100963 biolink:NamedThing Hyperesthesia Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. tmpaxzxjjyw_mondo_relaxed.owl Hyperaesthesia UMLS:C0020453|SNOMEDCT_US:14151009|MSH:D006941 Hyperesthesia is a common symptom of neuropathic pain. Neuropathic pain is defined by the International Association for the Study of Pain as pain caused by a lesion or disease of the somatosensory system. The neuropathic pain phenotype contains a spectrum of symptoms that can be roughly categorized into positive and negative symptoms. Hyperesthesia is a positive symptom of neuropathic pain. Positive symptoms are categorized as stimulus-dependent pain, stimulus-independent pain, and paresthesias. doelkens 2012-01-18T06:11:19Z human_phenotype owl:Class HP:0033747 biolink:NamedThing Abnormal exteroceptive sensation A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. tmpaxzxjjyw_mondo_relaxed.owl 2021-04-21 10:58:44+00:00 peter human_phenotype owl:Class MONDO:0000411 biolink:NamedThing electroclinical syndrome An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. tmpaxzxjjyw_mondo_relaxed.owl electro-clinical syndrome DOID:0050701 owl:Class UBERON:0003473 biolink:NamedThing thoracic cavity artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000226 biolink:NamedThing microtubule cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. tmpaxzxjjyw_mondo_relaxed.owl microtubule cytoskeleton organization and biogenesis|microtubule dynamics|microtubule cytoskeleton organisation owl:Class MONDO:0003145 biolink:NamedThing supratentorial primitive neuroectodermal tumor A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region. tmpaxzxjjyw_mondo_relaxed.owl CNS/supratentorial PNET|supratentorial primitive neuroectodermal tumor|supratent. primitive neuro. tumor|supratentorial PNET SCTID:699318007|GARD:0007366|DOID:4791|ICD9:209.30|NCIT:C6968|UMLS:C1336538 owl:Class MONDO:0013815 biolink:NamedThing FGFR2-related bent bone dysplasia tmpaxzxjjyw_mondo_relaxed.owl bent bone dysplasia (BBD)-FGFR2 type|perinatal lethal bent bone dysplasia|bent bone dysplasia syndrome|BBDS Orphanet:313855|UMLS:C3281247|GARD:0010965|OMIM:614592 owl:Class GO:0019902 biolink:NamedThing phosphatase binding Binding to a phosphatase. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003713 biolink:NamedThing angiokeratoma circumscriptum tmpaxzxjjyw_mondo_relaxed.owl DOID:5949|SCTID:21848000|UMLS:C0263638|NCIT:C7751 owl:Class MONDO:0003143 biolink:NamedThing angiokeratoma A vascular lesion in the papillary dermis resulting from ectasia of pre-existing vessels. It is associated with secondary proliferative changes in the overlying epidermis (hyperkeratosis). It can present with widespread lesions (angiokeratoma corporis diffusum, often associated with inborn errors of metabolism) or as a localized lesion (angiokeratoma of Fordyce, angiokeratoma circumscriptum, and angiokeratoma of Mibelli). tmpaxzxjjyw_mondo_relaxed.owl skin angiokeratoma|angiokeratoma of skin|cutaneous angiokeratoma|angiokeratoma (morphologic abnormality)|angiokeratoma of the skin NCIT:C4488|CSP:2007-0683|SCTID:254788004|UMLS:C0002985|MESH:D000794|DOID:479|UMLS:C0346075 owl:Class MONDO:0007329 biolink:NamedThing cirrhosis, familial Cirrhosis in which no causative agent can be identified. tmpaxzxjjyw_mondo_relaxed.owl cryptogenic cirrhosis|cirrhosis, familial, with pulmonary hypertension|copper toxicosis, idiopathic|copper-overload cirrhosis|Sen syndrome|hereditary cirrhosis of liver|cirrhosis, cryptogenic|cirrhosis, familial|Indian childhood cirrhosis|cirrhosis, Noncryptogenic, susceptibility to|endemic Tyrolean infantile cirrhosis NCIT:C84411|SCTID:6183001|OMIM:215600|Orphanet:209919 owl:Class HP:0004308 biolink:NamedThing Ventricular arrhythmia tmpaxzxjjyw_mondo_relaxed.owl Ventricular arrhythmias SNOMEDCT_US:44103008|UMLS:C0085612 peter 2008-02-20T01:28:00Z human_phenotype owl:Class MONDO:0003609 biolink:NamedThing seminal vesicle cystadenoma A rare benign cystadenoma that arises from the seminal vesicle. tmpaxzxjjyw_mondo_relaxed.owl seminal vesicle cystadenoma DOID:5724|NCIT:C39907|UMLS:C1519234 owl:Class MONDO:0010851 biolink:NamedThing Lowry-MacLean syndrome Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. tmpaxzxjjyw_mondo_relaxed.owl Lowry MacLean syndrome|mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure|intellectual disability, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis and growth failure|Lowry-MacLean syndrome ICD10:Q87.8|Orphanet:2409|UMLS:C0796020|MESH:C537037|GARD:0003300|SCTID:721974000|OMIM:600252 owl:Class MONDO:0022854 biolink:NamedThing congenital unilateral pulmonary hypoplasia tmpaxzxjjyw_mondo_relaxed.owl GARD:0001507 https://rarediseases.info.nih.gov/diseases/1507/congenital-unilateral-pulmonary-hypoplasia owl:Class CHEBI:33655 biolink:NamedThing aromatic compound A cyclically conjugated molecular entity with a stability (due to delocalization) significantly greater than that of a hypothetical localized structure (e.g. Kekule structure) is said to possess aromatic character. tmpaxzxjjyw_mondo_relaxed.owl aromatische Verbindungen|aromatic compounds|aromatic molecular entity|aromatics owl:Class CHEBI:33595 biolink:NamedThing cyclic compound Any molecule that consists of a series of atoms joined together to form a ring. tmpaxzxjjyw_mondo_relaxed.owl cyclic compounds owl:Class MONDO:0004732 biolink:NamedThing kidney carcinoma in situ A carcinoma in situ involving a kidney. tmpaxzxjjyw_mondo_relaxed.owl carcinoma in situ of kidney|stage 0 kidney carcinoma|kidney in situ carcinoma UMLS:C0686172|DOID:9234|ICD10:D09.1|SCTID:92624000|ICD9:233.9 owl:Class NCBITaxon:121759 biolink:NamedThing Paracoccidioides brasiliensis tmpaxzxjjyw_mondo_relaxed.owl Loboa loboi GC_ID:1 NCBITaxon:71432|NCBITaxon:70254 ncbi_taxonomy owl:Class NCBITaxon:38946 biolink:NamedThing Paracoccidioides tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:49637 biolink:NamedThing hydrogen atom tmpaxzxjjyw_mondo_relaxed.owl hydrogen|hidrogeno|hydrogene|Wasserstoff|H|1H owl:Class GO:0048864 biolink:NamedThing stem cell development The process whose specific outcome is the progression of the stem cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to its specific fate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013313 biolink:NamedThing ectodermal dysplasia-cutaneous syndactyly syndrome tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia-syndactyly syndrome 2|EDCS|EDSS2 UMLS:C3150809|Orphanet:247827|ICD10:Q82.8|OMIM:613576 owl:Class MONDO:0013311 biolink:NamedThing ectodermal dysplasia-syndactyly syndrome Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet. tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia-syndactyly syndrome type 1|EDSS|EDSS1|ectodermal dysplasia-syndactyly syndrome 1 UMLS:CN228599|ICD10:Q82.8|Orphanet:247820|OMIMPS:613573|OMIM:613573 owl:Class MONDO:0017601 biolink:NamedThing diffuse large B-cell lymphoma with chronic inflammation Diffuse large B-cell lymphoma with chronic inflammation is an Epstein-Barr virus-associated malignant lymphoproliferative disorder, developing in a context of long-standing or slow-growing, chronically inflamed lesions, such as chronic pyothorax, metallic implants in bones and joints, chronic osteomyelitis, chronic venous ulcer, or, rarely granulomatous inflammation. The tumor is usually primarily localized, with no involvement of other organs. tmpaxzxjjyw_mondo_relaxed.owl DLBCL with chronic inflammation Orphanet:300888|ICD10:C83.3 owl:Class MONDO:0007447 biolink:NamedThing autosomal dominant vibratory urticaria An autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum. tmpaxzxjjyw_mondo_relaxed.owl dermodistortive urticaria|DDU|vibratory angioedema|angioedema, vibratory|vibratory urticaria, autosomal dominant|VBU ICD9:995.1|OMIM:193050|MESH:C536347|SCTID:238694002|Orphanet:493342|OMIM:125630|UMLS:C1852146|UMLS:C0473546 owl:Class GO:0043471 biolink:NamedThing regulation of cellular carbohydrate catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates, carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000213 biolink:NamedThing lining cell A cell within an epithelial cell sheet whose main function is to act as an internal or external covering for a tissue or an organism. tmpaxzxjjyw_mondo_relaxed.owl boundary cell cell owl:Class MONDO:0006034 biolink:NamedThing gastric adenosquamous carcinoma A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation. tmpaxzxjjyw_mondo_relaxed.owl gastric adenosquamous carcinoma|stomach adenosquamous carcinoma|adenosquamous carcinoma of stomach|adenosquamous carcinoma of the stomach|STAS|gastric (stomach) adenosquamous cancer EFO:1000029|UMLS:C1333761|DOID:5635|NCIT:C5474|ONCOTREE:STAS owl:Class MONDO:0008816 biolink:NamedThing Chiari malformation type II Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache. tmpaxzxjjyw_mondo_relaxed.owl Arnold-Chiari malformation|Chiari malformation type II|Arnold-Chiari malformation type II|Chiari malformation type 2|Arnold-Chiari malformation type 2|Cm2|Arnold Chiari malformation type II|Chiari type II malformation OMIM:207950|GARD:0009232|ICD10:Q07.0|MedDRA:10056945|SCTID:373587001|Orphanet:1136 owl:Class NCBITaxon:1399770 biolink:NamedThing Entomophthoromycetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1264859 biolink:NamedThing Entomophthoromycotina tmpaxzxjjyw_mondo_relaxed.owl Entomophthoromycota|Zygomycota GC_ID:1|PMID:17572334|PMID:17051209|PMID:27738200 NCBITaxon:451824 ncbi_taxonomy owl:Class MONDO:0012291 biolink:NamedThing immunoglobulin A deficiency 2 Any selective IgA deficiency disease in which the cause of the disease is a mutation in the TNFRSF13B gene. tmpaxzxjjyw_mondo_relaxed.owl Immunoglobulin a deficiency type 2|Immunoglobulin A, selective deficiency of, TACI related|Immunoglobulin A, selective deficiency of, TACI-related|IGAD2|TNFRSF13B selective IgA deficiency disease|IgA, selective deficiency of, TACI-related|selective IgA deficiency disease caused by mutation in TNFRSF13B|IMMUNOGLOBULIN A deficiency 2|IgA, selective deficiency of, TACI related|immunoglobulin a deficiency 2 GARD:0010198|UMLS:C1836032|MESH:C536291|OMIM:609529 https://rarediseases.info.nih.gov/diseases/10198/immunoglobulin-a-deficiency-2 owl:Class MONDO:0021736 biolink:NamedThing proctosigmoiditis Inflammation of the sigmoid colon and rectum. tmpaxzxjjyw_mondo_relaxed.owl Rectosigmoiditis|rectosigmoiditis|Proctosigmoiditis|proctosigmoiditis NCIT:C34950|SCTID:41364008|UMLS:C0033252|ICD9:569.89 owl:Class ECTO:0400000 biolink:NamedThing exposure to environmental layer A exposure event involving the interaction of an exposure receptor to layer. tmpaxzxjjyw_mondo_relaxed.owl layer exposure owl:Class MONDO:0018469 biolink:NamedThing pulmonary non-tuberculous mycobacterial infection tmpaxzxjjyw_mondo_relaxed.owl nontuberculous mycobacterial lung disease|non-tuberculous mycobacterial lung disease Orphanet:411703|UMLS:CN237452|GARD:0012829|ICD10:A31.0 owl:Class MONDO:0019774 biolink:NamedThing Holmes-Gang syndrome Holmes-Gang syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.0|UMLS:CN206715|Orphanet:93970|OMIM:309580 Editor note: check GARD assignment owl:Class SO:0000651 biolink:NamedThing cytosolic_LSU_rRNA Cytosolic LSU rRNA is an RNA component of the large subunit of cytosolic ribosomes. tmpaxzxjjyw_mondo_relaxed.owl cytosolic large subunit rRNA|cytosolic LSU RNA|cytosolic LSU rRNA owl:Class SO:0002343 biolink:NamedThing cytosolic_rRNA Cytosolic rRNA is an RNA component of the small or large subunits of cytosolic ribosomes. tmpaxzxjjyw_mondo_relaxed.owl cytosolic ribosomal RNA|cytosolic rRNA owl:Class MONDO:0012911 biolink:NamedThing pseudohypoparathyroidism type 1C Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha). tmpaxzxjjyw_mondo_relaxed.owl PHP1C|Php 1C|pseudohypoparathyroidism, type IC|pseudohypoparathyroidism, type 1C MESH:C548076|GARD:0010681|OMIM:612462|ICD10:E20.1|UMLS:C2932716|Orphanet:79444|SCTID:717792007 https://rarediseases.info.nih.gov/diseases/10681/pseudohypoparathyroidism-type-1c owl:Class MONDO:0015977 biolink:NamedThing agammaglobulinemia A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes. tmpaxzxjjyw_mondo_relaxed.owl agammaglobulinemia|hypogammaglobulinemia|IGHM|mu heavy chain deficiency|Gammaglobulin Deficiency|antibody Deficiency|Immunoglobulin Deficiency Orphanet:183669|ICD10:D80.1|OMIM:613506|DOID:2583|OMIM:613500|ICD9:279.00|OMIM:612692|OMIM:613502|OMIM:615214|OMIM:601495|MESH:D000361|OMIM:613501|OMIMPS:601495|MedDRA:10001471|NCIT:C26931|GARD:0007455 owl:Class UBERON:0014389 biolink:NamedThing gustatory papilla of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001726 biolink:NamedThing papilla of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19380 biolink:NamedThing RNU12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046579 biolink:NamedThing positive regulation of Ras protein signal transduction Any process that activates or increases the frequency, rate or extent of Ras protein signal transduction. tmpaxzxjjyw_mondo_relaxed.owl up regulation of Ras protein signal transduction|upregulation of Ras protein signal transduction|up-regulation of Ras protein signal transduction|activation of Ras protein signal transduction|stimulation of Ras protein signal transduction owl:Class MONDO:0003663 biolink:NamedThing uterine ligament endometrioid adenocarcinoma A rare endometrioid adenocarcinoma that arises from the uterine ligament. Some of the reported cases were associated with endometriosis. tmpaxzxjjyw_mondo_relaxed.owl endometrioid adenocarcinoma of uterine ligament|uterine ligament endometrioid adenocarcinoma NCIT:C40138|UMLS:C1519868|DOID:5829 owl:Class MONDO:0024663 biolink:NamedThing primary skin meningioma tmpaxzxjjyw_mondo_relaxed.owl primary skin meningioma|primary meningioma of skin|primary meningioma of the skin|primary cutaneous meningioma UMLS:C1335481|NCIT:C5277 owl:Class GO:0030155 biolink:NamedThing regulation of cell adhesion Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. tmpaxzxjjyw_mondo_relaxed.owl cell adhesion receptor regulator activity owl:Class GO:1904115 biolink:NamedThing axon cytoplasm Any cytoplasm that is part of a axon. tmpaxzxjjyw_mondo_relaxed.owl axoplasm owl:Class GO:0120111 biolink:NamedThing neuron projection cytoplasm All of the contents of a plasma membrane bounded neuron projection, excluding the plasma membrane surrounding the projection. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019983 biolink:NamedThing multiloculated renal cyst tmpaxzxjjyw_mondo_relaxed.owl multilocular renal cyst|multilocular cyst of the kidney Orphanet:97366|SCTID:86463003 owl:Class MONDO:0032570 biolink:NamedThing Joubert syndrome 35 tmpaxzxjjyw_mondo_relaxed.owl JBTS35|JOUBERT SYNDROME 35 OMIM:618161 owl:Class HGNC:4440 biolink:NamedThing GP1BB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006644 biolink:NamedThing alcoholic liver cirrhosis A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages. tmpaxzxjjyw_mondo_relaxed.owl portal cirrhosis|alcoholic cirrhosis of liver|alcoholic cirrhosis|Laennec's cirrhosis, alcoholic|Laennec's cirrhosis UMLS:C1622502|CSP:1754-7677|EFO:1000802|SCTID:419728003|UMLS:C0023891|ICD10:K70.3|NCIT:C34782|DOID:14018|MESH:D008104|ICD9:571.2|MedDRA:10001618 owl:Class MONDO:0043693 biolink:NamedThing alcoholic liver diseases A disorder caused by damage to the liver parenchyma due to alcohol consumption. It may present with an acute onset or follow a chronic course, leading to cirrhosis. tmpaxzxjjyw_mondo_relaxed.owl alcoholic liver diseases|alcoholic liver damage|liver disease, alcoholic|alcoholic liver disease MESH:D008108|NCIT:C34783|EFO:0008573|SCTID:41309000 owl:Class MONDO:0020109 biolink:NamedThing constitutional megaloblastic anemia due to vitamin B12 metabolism disorder tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98396|ICD10:D51.8|ICD10:D51.3|ICD10:D51.0|ICD10:D51.9|UMLS:CN227785|ICD10:D51.2|ICD10:D51.1 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: HP_0001889 Megaloblastic anemia' HP_0001889 owl:Class MONDO:0010409 biolink:NamedThing syndromic X-linked intellectual disability Shrimpton type X-linked intellectual disability, Shrimpton type is characterised by the association of severe intellectual deficit with microcephaly, strabismus and short stature. It has been described in three boys from two unrelated families. Transmission is X-linked recessive and the causative gene has been localised to the q12-Xq21.31 region of the X-chromosome. tmpaxzxjjyw_mondo_relaxed.owl MRXS9|X-linked intellectual disability, Shrimpton type|mental retardation, X-linked, syndromic 9|intellectual disability, X-linked, syndromic 9 ICD10:Q87.8|OMIM:300709|Orphanet:85324|DOID:0060813|MESH:C567474|UMLS:C2678039 owl:Class MONDO:0014635 biolink:NamedThing microphthalmia, isolated, with coloboma 10 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the RBP4 gene. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia, isolated, with coloboma type 10|microphthalmia, isolated, with coloboma caused by mutation in RBP4|microphthalmia, isolated, with coloboma 10|MCOPCB10|RBP4 microphthalmia, isolated, with coloboma Orphanet:98938|OMIM:616428|UMLS:C4225330 owl:Class MONDO:0014276 biolink:NamedThing combined immunodeficiency due to CD3gamma deficiency Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations. tmpaxzxjjyw_mondo_relaxed.owl SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive|CD3 deficiency|CD3gamma deficiency|immunodeficiency 17|combined immunodeficiency due to CD3gamma deficiency|CD3-gamma deficiency|IMD17|immunodeficiency type 17 DOID:0060018|OMIM:615607|UMLS:C3810107|GARD:0009521|UMLS:C4510864|Orphanet:169082|ICD10:D81.2|SCTID:725135004 Editor note: check GARD https://rarediseases.info.nih.gov/diseases/9521/cd3-deficiency owl:Class MONDO:0032894 biolink:NamedThing neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY|NEDESBA OMIM:618741 owl:Class MONDO:0016494 biolink:NamedThing regional variant of Guillain-Barre syndrome tmpaxzxjjyw_mondo_relaxed.owl regional variant of Guillain-Barré syndrome|regional variant of GBS ICD10:G61.0|Orphanet:231416|UMLS:CN201496 owl:Class HGNC:4044 biolink:NamedThing FZD6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904100 biolink:NamedThing positive regulation of protein O-linked glycosylation Any process that activates or increases the frequency, rate or extent of protein O-linked glycosylation. tmpaxzxjjyw_mondo_relaxed.owl up regulation of protein amino acid O-linked glycosylation|positive regulation of protein amino acid O-linked glycosylation|activation of protein O-linked glycosylation|up-regulation of protein amino acid O-linked glycosylation|up regulation of protein O-linked glycosylation|upregulation of protein O-linked glycosylation|upregulation of protein amino acid O-linked glycosylation|activation of protein amino acid O-linked glycosylation|up-regulation of protein O-linked glycosylation owl:Class HGNC:2843 biolink:NamedThing DGAT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002344 biolink:NamedThing CD56-negative, CD161-positive immature natural killer cell, human A natural killer cell that is developmentally immature, has the phenotype CD34-negative, CD56-negative, CD117-positive, CD122-positive,and CD161-positive. tmpaxzxjjyw_mondo_relaxed.owl p-NK Human markers; killer cell immunoglobulin-like receptor 2DL1 is used as a representative example (PRO at this time lacks a KIR superfamily). tmeehan 2010-09-20T04:33:11Z cell owl:Class CL:0000823 biolink:NamedThing immature natural killer cell A natural killer cell that is developmentally immature and expresses natural killer cell receptors (NKR). tmpaxzxjjyw_mondo_relaxed.owl p-NK|immature NK cell In mouse the NKR are Ly49 molecules and in human these cells express KIR molecules. cell owl:Class MONDO:0017180 biolink:NamedThing 10q22.3q23.3 microduplication syndrome tmpaxzxjjyw_mondo_relaxed.owl trisomy 10q22.3q23.3|dup(10)(q22.3q23.3) Orphanet:276422|UMLS:CN202619|ICD10:Q92.3 owl:Class GO:0045668 biolink:NamedThing negative regulation of osteoblast differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of osteoblast differentiation|down regulation of osteoblast differentiation|down-regulation of osteoblast differentiation|inhibition of osteoblast differentiation owl:Class HGNC:6460 biolink:NamedThing KRT83 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044765 biolink:NamedThing steroid-resistant nephrotic syndrome Nephrotic syndrome, occurring in the pediatric population, in which proteinuria does not normalize with administration of steroids; this condition is unresponsive to a minimum of four weeks administration of oral corticosteroids. tmpaxzxjjyw_mondo_relaxed.owl nephrotic syndrome-steroid-resistant|NPHS2|steroid-unresponsive nephrotic syndrome|nephrotic syndrome of childhood - steroid resistant|steroid-resistant nephrotic syndrome|SRNS - steroid-resistant nephrotic syndrome|nephrotic syndrome, steroid-resistant, autosomal recessive|nephrotic syndrome, idiopathic, steroid-resistant UMLS:CN034406|GTR:AN0096391|SCTID:236381000|GTR:AN0255485|NCIT:C122798|GTR:AN0096395|GTR:AN0200342 owl:Class UBERON:0004795 biolink:NamedThing pancreas secretion tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0023056 biolink:NamedThing positive regulation of signaling Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of signaling process|positive regulation of signalling process owl:Class MONDO:0015551 biolink:NamedThing basal epidermolysis bullosa simplex A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes. tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa simplex of stratum basale of epidermis|stratum basale of epidermis epidermolysis bullosa simplex ICD10:Q81.0|Orphanet:158665|SCTID:723163000|UMLS:C4302031 owl:Class GO:0050770 biolink:NamedThing regulation of axonogenesis Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002450 biolink:NamedThing Abnormal motor neuron morphology Any structural anomaly that affects the motor neuron. tmpaxzxjjyw_mondo_relaxed.owl Abnormal shape of motor neuron UMLS:C4025707 human_phenotype owl:Class HP:0012757 biolink:NamedThing Abnormal neuron morphology A structural anomaly of a neuron. tmpaxzxjjyw_mondo_relaxed.owl Abnormal neuron shape|Abnormal neuronal morphology UMLS:C4022739 peter 2014-04-02T05:12:30Z human_phenotype owl:Class HGNC:18708 biolink:NamedThing GRIP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002487 biolink:NamedThing breast granular cell tumor A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl granular cell tumor of breast|breast granular cell tumor UMLS:C1511312|DOID:3011|NCIT:C40400 owl:Class HGNC:9023 biolink:NamedThing PKP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7376 biolink:NamedThing MSR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009940 biolink:NamedThing pycnodysostosis Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery. tmpaxzxjjyw_mondo_relaxed.owl Pycd|pycnodysostosis|Pyknodysostosis|PKND SCTID:89647000|DOID:0080038|GARD:0004611|MESH:D058631|UMLS:C0238402|OMIM:265800|Orphanet:763|ICD10:Q78.8|NCIT:C131187 https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis owl:Class GO:0090274 biolink:NamedThing positive regulation of somatostatin secretion Any process that increases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0090273 biolink:NamedThing regulation of somatostatin secretion Any process that modulates the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021641 biolink:NamedThing Bunyaviridae infectious disease Virus diseases caused by the bunyaviridae. tmpaxzxjjyw_mondo_relaxed.owl Bunyaviridae caused disease or disorder|Bunyavirus infections|disease caused by Bunyaviridae|infections, Bunyaviridae|disease caused by Bunyavirus|Bunyaviridae infection|infections, Bunyavirus|disease due to Bunyavirus|Bunyavirus infection|Bunyaviridae disease or disorder|disease due to Bunyaviridae|Bunyaviridae infectious disease EFO:0007188|MESH:D002044|SCTID:105632002 owl:Class MONDO:0007839 biolink:NamedThing Aase-Smith syndrome Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. tmpaxzxjjyw_mondo_relaxed.owl Aase-Smith syndrome 1|hydrocephalus-cleft palate-joint contractures syndrome|Joint contractures with Other abnormalities|Aase-Smith syndrome|Aase-Smith syndrome type 1|Aase-Smith I syndrome|Aase-Smith syndrome I GARD:0005642|Orphanet:916|UMLS:C0220686|SCTID:718576001|ICD10:Q87.8|MESH:C535332|MedDRA:10063429|OMIM:147800 owl:Class GO:0045983 biolink:NamedThing positive regulation of purine nucleobase metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving purine bases. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of purine base metabolism|activation of purine base metabolic process|positive regulation of purine base metabolic process|up-regulation of purine base metabolic process|upregulation of purine base metabolic process|stimulation of purine base metabolic process|up regulation of purine base metabolic process owl:Class MONDO:0019789 biolink:NamedThing cytophagic histiocytic panniculitis Cytophagic histiocytic panniculitis (CHP) is a very rare form of panniculitis manifesting as recurrent multiple subcutaneous nodules (which may progressively become ecchymotic and ulcerated), and histologically characterized by lobular panniculitis with lymphocytic and histiocytic infiltration in the subcutaneous adipose tissue. tmpaxzxjjyw_mondo_relaxed.owl CHP|Winkelmann cytophagic panniculitis SCTID:238883003|Orphanet:94087|ICD10:M35.8|UMLS:C0406594 owl:Class MONDO:0006591 biolink:NamedThing panniculitis Inflammation of the subcutaneous adipose tissue. tmpaxzxjjyw_mondo_relaxed.owl subcutaneous adipose tissue inflammation|Subcutaneous tissue|inflammation of subcutaneous adipose tissue|Subcutaneous adipose tissue|subcutis SCTID:22125009|NCIT:C33645|ICD10:M79.3|NCIT:C112112|EFO:1000746|UMLS:C0030326|MESH:D015434|ICD9:729.3|ICD9:729.39|Wikipedia:Panniculitis|ICD9:729.30|DOID:1526 owl:Class MONDO:0008284 biolink:NamedThing polyposis of gastric fundus without polyposis coli tmpaxzxjjyw_mondo_relaxed.owl polyposis of gastric fundus without polyposis coli|fundic gland polyposis UMLS:C1868001|OMIM:175505|MESH:C566775 owl:Class MONDO:0010268 biolink:NamedThing X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl lissencephaly, X-linked, 2|lissencephaly, X-linked, type 2|Xlisg|X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|hydranencephaly and abnormal genitalia|XLAG syndrome|XLAG (X-linked lissencephaly with abnormal genitalia) syndrome|X-linked lissencephaly with abnormal genitalia|X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome|hydranencephaly with abnormal genitalia|X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies|lissencephaly, X-linked 2|LISX2|lissencephaly, X-linked, with ambiguous genitalia|X-linked lissencephaly with ambiguous genitalia ICD10:Q04.3|OMIM:300215|GARD:0012491|SCTID:717632002|MESH:C564563|Orphanet:452 https://rarediseases.info.nih.gov/diseases/12491/x-linked-lissencephaly-with-abnormal-genitalia owl:Class MONDO:0014891 biolink:NamedThing hyperuricemic nephropathy, familial juvenile type 4 Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene. tmpaxzxjjyw_mondo_relaxed.owl hyperuricemic NEPHROPATHY, familial juvenile, 4|hyperuricemic nephropathy, familial juvenile, 4|HNFJ4|ADTKD-SEC61A1|SEC61A1-related autosomal dominant tubulointerstitial kidney disease|familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1|SEC61A1 familial juvenile hyperuricemic nephropathy|hyperuricemic nephropathy, familial juvenile, type 4 UMLS:C4310741|OMIM:617056 owl:Class HGNC:6341 biolink:NamedThing KISS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024183 biolink:NamedThing wet beriberi tmpaxzxjjyw_mondo_relaxed.owl DOID:0070317|ICD10CM:E51.12 owl:Class MONDO:0006676 biolink:NamedThing beriberi Beriberi is a condition that occurs in people who are deficient in thiamine (vitamin B1). There are two major types of beriberi: wet beriberi which affects the cardiovascular system and dry beriberi which affects the nervous system. People with wet beriberi may experience increased heart rate, shortness of breath, and swelling of the lower legs. Signs and symptoms of dry beriberi include difficulty walking; loss of feeling in the hands and/or feet; paralysis of the lower legs; mental confusion; speech difficulty; pain; and/or vomiting. Beriberi is rare in the United States since many foods are now vitamin enriched; however, alcohol abuse, dialysis and taking high doses of diuretics increases the risk of developing the condition. In most cases,beriberi occurs sporadically in people with no family history of the condition. A rare condition known as genetic beriberi is inherited (passed down through families) and is associated with an inability to absorb thiamine from foods. Treatment generally includes thiamine supplementation, given by injection or taken by mouth. tmpaxzxjjyw_mondo_relaxed.owl thiamine deficiency|vitamin B1 deficiency|Beri Beri DOID:0070313|NCIT:C34418|DOID:13725|UMLS:C0005122|EFO:1000837|ICD9:265.0|GARD:0009948|MESH:D001602|MedDRA:10004482|SCTID:36656008|ICD10:E51.1|ICD10:E51.11 Editor note: check if beriberi should be made a subclass of TD https://rarediseases.info.nih.gov/diseases/9948/beriberi owl:Class MONDO:0018946 biolink:NamedThing rhombencephalosynapsis Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres. tmpaxzxjjyw_mondo_relaxed.owl ICD9:742.4|ICD10:Q04.3|Orphanet:59315|UMLS:C1866130|SCTID:442300000 owl:Class MONDO:0015915 biolink:NamedThing cerebellar malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:182061 owl:Class MONDO:0010246 biolink:NamedThing developmental and epileptic encephalopathy, 9 Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. tmpaxzxjjyw_mondo_relaxed.owl female restricted epilepsy with intellectual deficit|epilepsy, female restricted, with intellectual disability|early infantile epileptic encephalopathy caused by mutation in PCDH19|epilepsy, female restricted, with mental retardation|Juberg-Hellman syndrome|female restricted epilepsy with mental retardation|epilepsy and intellectual disability limited to females|PCDH19-related female-limited epilepsy|Juberg Hellman syndrome|developmental and epileptic encephalopathy, 9|DEE9|familial epilepsy and intellectual disability limited to females|PCDH19-related infantile epileptic encephalopathy|epilepsy, female-restricted, with intellectual disability|early infantile female-limited epilecptic encephalopathy|PCDH19-related FLE|epilepsy and mental retardation limited to females|PCDH19 early infantile epileptic encephalopathy|epilepsy, female-restricted, with mental retardation|EFMR|familial epilepsy and mental retardation limited to females|female restricted epilepsy with intellectual disability|epileptic encephalopathy, early infantile, 9|epileptic encephalopathy, early infantile, type 9|early infantile epileptic encephalopathy type 9|EIEE9|early infantile epileptic encephalopathy 9 Orphanet:101039|MESH:C564715|DOID:0060848|GARD:0010806|UMLS:C1848137|OMIM:300088 owl:Class MONDO:0016160 biolink:NamedThing X-linked intellectual disability-epilepsy syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIM:300607|Orphanet:2076|OMIM:300423|OMIM:300088|UMLS:CN226857 owl:Class UBERON:0003861 biolink:NamedThing neural arch tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:57 biolink:NamedThing ABCC6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013527 biolink:NamedThing lissencephaly 4 Any lissencephaly in which the cause of the disease is a mutation in the NDE1 gene. tmpaxzxjjyw_mondo_relaxed.owl NDE1 lissencephaly (disease)|lissencephaly 4|lissencephaly type 4|lissencephaly 4 with microcephaly|lissencephaly (disease) caused by mutation in NDE1|LIS4|lissencephaly 4, with microcephaly UMLS:C3151461|OMIM:614019|Orphanet:1083 owl:Class MONDO:0015204 biolink:NamedThing microlissencephaly Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting with spasticity, severe developmental delay, and seizures and with survival varying from days to years. tmpaxzxjjyw_mondo_relaxed.owl OMIM:616212|OMIM:614019|Orphanet:1083|UMLS:C1956147|ICD10:Q04.3 owl:Class CHEBI:33327 biolink:NamedThing silicon oxide tmpaxzxjjyw_mondo_relaxed.owl oxides of silicon|silicon oxides owl:Class CHEBI:24836 biolink:NamedThing inorganic oxide tmpaxzxjjyw_mondo_relaxed.owl inorganic oxides owl:Class MONDO:0012128 biolink:NamedThing dextro-looped transposition of the great arteries 1 Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene. tmpaxzxjjyw_mondo_relaxed.owl MED13L dextro-looped transposition of the great arteries|transposition of the great arteries, dextro-looped 1|D-TGA|transposition of the great arteries, dextro-looped type 1|dextro-looped transposition of the great arteries type 1|dextro-looped transposition of the great arteries caused by mutation in MED13L|DTGA1 DOID:0060771|ICD10:Q20.3|OMIM:608808|GARD:0007795|Orphanet:860|UMLS:C1837341|MESH:C563853 owl:Class MONDO:0019443 biolink:NamedThing dextro-looped transposition of the great arteries Congenitally uncorrected transposition of the great arteries (congenitally uncorrected TGA), also referred to as complete transposition, is a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial (VA) discordance. tmpaxzxjjyw_mondo_relaxed.owl congenitally uncorrected transposition of the great vessels|isolated ventriculoarterial discordance|congenitally uncorrected transposition of the great arteries|D-TGA|ventriculoarterial discordance with atrioventricular concordance|DTGA DOID:0060770|OMIM:613854|ICD10:Q20.3|OMIMPS:608808|OMIM:608808|Orphanet:860 owl:Class HGNC:32925 biolink:NamedThing ATXN8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017638 biolink:NamedThing manganese poisoning Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include confusion; hallucinations; and an extrapyramidal syndrome (parkinson disease, secondary) that includes rigidity; dystonia; retropulsion; and tremor. (Adams, Principles of Neurology, 6th ed, p1213) tmpaxzxjjyw_mondo_relaxed.owl manganese intoxication|Manganism ICD10:T57.2|Orphanet:306682|EFO:1001808|ICD9:503|MESH:D020149|MedDRA:10058951|SCTID:88687001 owl:Class MONDO:0021520 biolink:NamedThing benign neoplasm of floor of mouth A benign neoplasm that involves the mouth floor. tmpaxzxjjyw_mondo_relaxed.owl benign floor of mouth tumor|benign tumor of floor of mouth|benign floor of mouth neoplasm|benign floor of the mouth neoplasm|benign tumor of the floor of the mouth|mouth floor benign neoplasm|benign neoplasm of the floor of the mouth|benign floor of the mouth tumor UMLS:C0153934|ICD9:210.3|ICD10:D10.2|NCIT:C3593|SCTID:92109005 owl:Class MONDO:0001747 biolink:NamedThing tibial collateral ligament bursitis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158315|SCTID:44245003|DOID:13566|ICD9:726.62 owl:Class MONDO:0005312 biolink:NamedThing pouchitis Acute inflammation in the intestinal mucosa of the continent ileal reservoir (or pouch) in patients who have undergone ileostomy and restorative proctocolectomy (proctocolectomy, restorative). tmpaxzxjjyw_mondo_relaxed.owl MESH:D019449|ICD10:K91.850|ICD9:569.71|EFO:0003921|Orphanet:217067|UMLS:C0376620 owl:Class MONDO:0024635 biolink:NamedThing small intestine disorder A disease that involves the small intestine. tmpaxzxjjyw_mondo_relaxed.owl disorder of small intestine|small intestine disease or disorder|disease or disorder of small intestine|disease of small intestine UMLS:C0341268|SCTID:119522002 owl:Class MONDO:0005977 biolink:NamedThing tabes dorsalis A form of neurosyphilis characterized by slowly progressive degeneration of the spinal cord. Signs and symptoms include pain, ataxia, loss of coordination, personality changes, blindness, urinary incontinence, dementia, and degeneration of the joints. tmpaxzxjjyw_mondo_relaxed.owl tabes dorsalis - neurosyphilis|syphilitic myelopathy|posterior spinal sclerosis ICD9:094.0|MESH:D013606|DOID:10027|ICD10:A52.11|EFO:0007505|UMLS:C0039223|SCTID:316841006|GARD:0008730|NCIT:C35057 owl:Class MONDO:0018586 biolink:NamedThing zinc-responsive necrolytic acral erythema tmpaxzxjjyw_mondo_relaxed.owl NAE|necrolytic acral erythema ICD10:L53.8|Orphanet:439196|SCTID:762543009|UMLS:CN237615 owl:Class MONDO:0001206 biolink:NamedThing aqueous misdirection tmpaxzxjjyw_mondo_relaxed.owl DOID:11149|ICD9:365.83|ICD10:H40.83 owl:Class HGNC:5950 biolink:NamedThing IGSF3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021468 biolink:NamedThing benign neoplasm of adrenal medulla A benign neoplasm that involves the adrenal medulla. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of the adrenal medulla|adrenal medulla benign neoplasm|benign adrenal medulla neoplasm|benign tumor of adrenal medulla|benign adrenal medulla tumor|benign neoplasm of the adrenal medulla NCIT:C4895|SCTID:91968002|UMLS:C0686512 owl:Class HGNC:17168 biolink:NamedThing RAB3GAP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003271 biolink:NamedThing Visceromegaly Abnormal increased size of the viscera of the abdomen. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:28543008|UMLS:C0042782 Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas. human_phenotype owl:Class UBERON:0006916 biolink:NamedThing non-keratinized epithelium of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006919 biolink:NamedThing tongue squamous epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5389 biolink:NamedThing IDS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015075 biolink:NamedThing thyroid gland carcinoma A carcinoma arising from the thyroid gland. It is usually an adenocarcinoma and includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the thyroid|thyroid carcinoma|carcinoma of thyroid|cancer of the thyroid|carcinoma of the thyroid gland|carcinoma of thyroid gland|cancer of thyroid|thyroid gland carcinoma|thyroid cancer|head and neck cancer, thyroid|thyroid gland cancer DOID:3963|EFO:1000586|HP:0002890|NCIT:C4815|SCTID:448216007|Orphanet:100088|UMLS:C0549473|MedDRA:10007476 owl:Class UBERON:0007530 biolink:NamedThing migrating mesenchyme population tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11630 biolink:NamedThing HNF1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007679 biolink:NamedThing GMS syndrome GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992. tmpaxzxjjyw_mondo_relaxed.owl Goniodysgenesis-intellectual disability-short stature syndrome|Goniodysgenesis--mental retardation--short stature syndrome|GMS syndrome|Goniodysgenesis--intellectual disability--short stature syndrome MESH:C564214|Orphanet:2090|ICD10:Q87.8|UMLS:C1841854|GARD:0002523|OMIM:138770|SCTID:716024001 https://rarediseases.info.nih.gov/diseases/2523/gms-syndrome owl:Class HGNC:24587 biolink:NamedThing FAM126A tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0098800 biolink:NamedThing inner mitochondrial membrane protein complex Any protein complex that is part of the inner mitochondrial membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006090 biolink:NamedThing appendix hyperplastic polyp A non-neoplastic polyp that arises from the appendix. It is characterized by the presence of elongated serrated crypts and the absence of atypia or dysplasia. tmpaxzxjjyw_mondo_relaxed.owl vermiform appendix hyperplastic polyp|appendix metaplastic polyp EFO:1000091|NCIT:C96416|UMLS:C3272761 owl:Class MONDO:0006249 biolink:NamedThing hyperplastic polyp A polyp found mainly in the stomach and colon. Microscopically, it is characterized by elongated, serrated crypts lined by proliferative epithelium. Hyperplastic polyps are traditionally considered non-neoplastic, but ras mutation is common, clonality has been demonstrated and biochemical abnormalities and epidemiological associations that occur in colorectal adenomas and carcinomas have been found (WHO Tumors of the Digestive System, 2000). tmpaxzxjjyw_mondo_relaxed.owl MP|metaplastic polyp|HP EFO:1000299|UMLS:C0333983|NCIT:C4083 owl:Class MONDO:0010807 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 2 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in MYO7A|autosomal recessive nonsyndromic deafness 2|neurosensory nonsyndromic recessive deafness 2|deafness, autosomal recessive type 2|autosomal recessive nonsyndromic deafness type 2|MYO7A autosomal recessive nonsyndromic deafness|DFNB2|autosomal recessive deafness 2|deafness, autosomal recessive 2 MESH:C564007|ICD10:H90.3|DOID:0110477|UMLS:C1838701|OMIM:600060 owl:Class UBERON:0010377 biolink:NamedThing mesenchyme from somatopleure tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004474 biolink:NamedThing musculature of arm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004481 biolink:NamedThing musculature of upper limb tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012589 biolink:NamedThing Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea|Pitt Hopkins syndrome|encephalopathy, Severe epileptic, with autonomic dysfunction|PTHS|intellectual disability, Syndromal, with intermittent hyperventilation|Pitt-Hopkins syndrome|mental retardation, Syndromal, with intermittent hyperventilation ICD10:Q87.0|MESH:C537403|Orphanet:2896|OMIM:610954|SCTID:702344008|GARD:0004372|DOID:0060488|NCIT:C129872|UMLS:C1970431|ICD9:758.5 https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome owl:Class MONDO:0002794 biolink:NamedThing adult medulloblastoma A medulloblastoma arising from the brain, occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl medulloblastoma|medulloblastoma of adults|adult brain medulloblastoma UMLS:C1332188|DOID:3864|NCIT:C4011|MESH:D008527|UMLS:C0278876 owl:Class MONDO:0016022 biolink:NamedThing early myoclonic encephalopathy Early myoclonic encephalopathy (EME) is characterized clinically by the onset of fragmentary myoclonus appearing in the first month of life, often associated with erratic focal seizures and a suppression-burst EEG pattern. tmpaxzxjjyw_mondo_relaxed.owl myoclonic epilepsy|eme|myoclonus epilepsy|epileptic seizures - myoclonic|epileptic seizures, myoclonic|myoclonia epileptica|myoclonic seizure|myoclonic seizure disorder|early myoclonic encephalopathy with suppression-bursts|early myoclonic encephalopathy UMLS:C0270855|OMIM:609304|EFO:1001900|GARD:0007142|NCIT:C116593|DOID:308|OMIM:616341|SCTID:44423001|OMIM:617105|ICD10:G40.4|Orphanet:1935|UMLS:C0014550 owl:Class UBERON:0006536 biolink:NamedThing male reproductive gland secretion tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0022293 biolink:NamedThing reproductive gland secretion tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007188 biolink:NamedThing mesothelium of serous pericardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009206 biolink:NamedThing factor V and factor VIII, combined deficiency of, type 1 Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene. tmpaxzxjjyw_mondo_relaxed.owl multiple coagulation Factor deficiency 1|combined deficiency of factor V and factor VIII caused by mutation in LMAN1|factor 5 and Factor VIII, combined deficiency of, 1|FMFD 1|F5F8D1|factor V and factor VIII, combined deficiency of, type 1|LMAN1 combined deficiency of factor V and factor VIII|familial multiple coagulation Factor deficiency 1|factor V and factor VIII, combined deficiency of, 1 OMIM:227300|Orphanet:35909|UMLS:C1856883|SCTID:84048006 owl:Class MONDO:0018175 biolink:NamedThing combined deficiency of factor V and factor VIII Combined deficiency of factor V and factor VIII is an inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate bleeding symptoms. tmpaxzxjjyw_mondo_relaxed.owl familial multiple coagulation factor deficiency|FV and FVIII combined deficiency|F5F8D|combined deficiency of factor V and factor type VIII SCTID:715559004|ICD10:D68.8|OMIM:227300|Orphanet:35909|OMIM:227310|OMIM:613625|UMLS:C1856883 owl:Class HGNC:10606 biolink:NamedThing SCP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002218 biolink:NamedThing temporal lobe cancer A cancer that involves the temporal lobe. tmpaxzxjjyw_mondo_relaxed.owl malignant temporal lobe neoplasm|temporal lobe cancer|malignant neoplasm of temporal lobe|cancer of temporal lobe|temporal lobe neoplasm DOID:2135|UMLS:C1263887|UMLS:C0153636|SCTID:126955002|SCTID:363468009|ICD9:191.2|ICD10:C71.2|NCIT:C5567 owl:Class HGNC:5960 biolink:NamedThing IKBKB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000589 biolink:NamedThing autoimmune disorder of musculoskeletal system A hypersensitivity reaction type II disease that involves the musculoskeletal system. tmpaxzxjjyw_mondo_relaxed.owl musculoskeletal system hypersensitivity reaction type II disease|musculoskeletal system autoimmune disease DOID:0060032 owl:Class MONDO:0020070 biolink:NamedThing neonatal epilepsy syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:G40.4|UMLS:CN206974|Orphanet:98257 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class UBERON:0004652 biolink:NamedThing humerus diaphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:22881 biolink:NamedThing biopterins tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020172 biolink:NamedThing palpebral epidermal tumor A neoplasm (disease) that involves the skin of eyelid. tmpaxzxjjyw_mondo_relaxed.owl skin of eyelid tumor|skin of eyelid neoplasm|skin of eyelid neoplasm (disease)|neoplasm of skin of eyelid|tumor of skin of eyelid UMLS:CN207033|Orphanet:98581|SCTID:126499002 owl:Class MONDO:0000568 biolink:NamedThing autoimmune disorder of central nervous system A hypersensitivity reaction type II disease that involves the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl central nervous system autoimmune disease|central nervous system hypersensitivity reaction type II disease DOID:0060004 owl:Class MONDO:0012487 biolink:NamedThing alopecia-intellectual disability syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl AMR syndrome 2|APMR2|alopecia with mild to moderate intellectual deficit|alopecia-mental retardation syndrome 2|alopecia-intellectual disability syndrome 2|alopecia intellectual disability syndrome 2 UMLS:C1835852|OMIM:610422|MESH:C563668|GARD:0004291|Orphanet:2850|DOID:0080629 owl:Class MONDO:0008756 biolink:NamedThing alopecia - intellectual disability syndrome Alopecia-intellectual deficit syndrome is an extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. tmpaxzxjjyw_mondo_relaxed.owl alopecia intellectual disbility syndrome 1|Amr syndrome|alopecia-mental retardation syndrome|AMR syndrome 1|Perniola-Krajewska-Carnevale syndrome|alopecia with severe intellectual deficit|alopecia-intellectual disability syndrome GARD:0000612|ICD10:Q87.8|UMLS:C1859878|Orphanet:2850|OMIM:203650|OMIM:613930|OMIMPS:203650|SCTID:716191002|DOID:0080627|OMIM:610422 owl:Class MONDO:0006581 biolink:NamedThing miliaria rubra Miliaria rubraor prickly heat occurs deeper in the epidermis (outside layer of skin) and results in very itchy red papules (bumps). tmpaxzxjjyw_mondo_relaxed.owl sudamina|prickly heat - miliaria|miliaria crystallina ICD10:L74.0|MESH:D008883|EFO:1000735|UMLS:C0162423|ICD9:705.1|ICD10:L74.2|SCTID:44279002|UMLS:C3241961|DOID:11153 owl:Class GO:0051930 biolink:NamedThing regulation of sensory perception of pain Any process that modulates the frequency, rate or extent of the sensory perception of pain, the series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005956 biolink:NamedThing outflow part of left ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005337 biolink:NamedThing outflow tract of ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015432 biolink:NamedThing ring chromosome 12 Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. tmpaxzxjjyw_mondo_relaxed.owl chromosome 12 ring|Ring chromosome 12 syndrome|R12|Ring chromosome type 12|Ring 12 MESH:C538298|UMLS:C0795843|GARD:0001325|Orphanet:1439|ICD10:Q93.2 https://rarediseases.info.nih.gov/diseases/1325/ring-chromosome-12 owl:Class MONDO:0015593 biolink:NamedThing limbic encephalitis with nCMAgs antibodies tmpaxzxjjyw_mondo_relaxed.owl limbic encephalitis with novel cell membrane antigen antibodies Orphanet:163914|ICD10:G13.1 owl:Class MONDO:0015591 biolink:NamedThing limbic encephalitis associated with antibodies to cell membrane antigens tmpaxzxjjyw_mondo_relaxed.owl ICD10:G13.1|Orphanet:163903 owl:Class CHEBI:76414 biolink:NamedThing propellant A compressed gas or liquid with a boiling point lower than room temperature which to used to propel and dispense liquids such as deodorants, insecticides, paints, etc. from aerosol cans. tmpaxzxjjyw_mondo_relaxed.owl propellants owl:Class NCBITaxon:9989 biolink:NamedThing Rodentia tmpaxzxjjyw_mondo_relaxed.owl rodents|rodent GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014461 biolink:NamedThing hypogonadotropic hypogonadism 22 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene. tmpaxzxjjyw_mondo_relaxed.owl HH22|hypogonadotropic hypogonadism caused by mutation in FEZF1|FEZF1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 22 with or without anosmia UMLS:C4014988|Orphanet:478|DOID:0090081|OMIM:616030|ICD10:E23.0 owl:Class MONDO:0007958 biolink:NamedThing familial medullary thyroid carcinoma An instance of thyroid medullary carcinoma that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl thyroid carcinoma, familial medullary|familial medullary thyroid carcinoma|Mtc1|MTC|Fmtc|familial MTC|hereditary thyroid medullary carcinoma|hereditary medullary thyroid gland carcinoma Orphanet:99361|UMLS:C1833921|Orphanet:653|OMIM:155240|MESH:C536911|DOID:0050547|ICD10:C73 owl:Class UBERON:0005178 biolink:NamedThing thoracic cavity element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005407 biolink:NamedThing sublingual ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016514 biolink:NamedThing cavity of left ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030067 biolink:NamedThing treacher collins syndrome 4 tmpaxzxjjyw_mondo_relaxed.owl TREACHER COLLINS SYNDROME 4|TCS4|treacher collins syndrome 4 OMIM:618939 owl:Class CL:0000068 biolink:NamedThing duct epithelial cell An epithelial cell that is part of a duct. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0054868 biolink:NamedThing meconium ileus Small intestinal obstruction that results from the impaction of thick meconium in the distal small intestine. tmpaxzxjjyw_mondo_relaxed.owl meconium ileus SCTID:206523001|NCIT:C98979 owl:Class MONDO:0018821 biolink:NamedThing X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability tmpaxzxjjyw_mondo_relaxed.owl X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females|X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females Orphanet:480880|UMLS:CN776923 owl:Class MONDO:0024480 biolink:NamedThing dermatosis of eyelid tmpaxzxjjyw_mondo_relaxed.owl dermatosis of eyelid SCTID:402700001|UMLS:C1274150 owl:Class NCBITaxon:41819 biolink:NamedThing Ceratopogonidae tmpaxzxjjyw_mondo_relaxed.owl no-see-ums|biting midges GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:41828 biolink:NamedThing Chironomoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0046676 biolink:NamedThing negative regulation of insulin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin. tmpaxzxjjyw_mondo_relaxed.owl downregulation of insulin secretion|down regulation of insulin secretion|inhibition of insulin secretion|down-regulation of insulin secretion owl:Class CHEBI:35604 biolink:NamedThing carbon oxoanion A negative ion consisting solely of carbon and oxygen atoms, and therefore having the general formula CxOy(n-) for some integers x, y and n. tmpaxzxjjyw_mondo_relaxed.owl oxocarbon anions|oxocarbon anion|carbon oxoanion|carbon oxoanions owl:Class MONDO:0024246 biolink:NamedThing syringofibroadenoma A rare, benign eccrine neoplasm usually arising on acral areas as a solitary papular or nodular lesion. Multiple lesions are referred as syringofibroadenomatosis. It is characterized by the presence of epithelial cuboidal cells forming anastomosing cords in a fibrovascular stroma. tmpaxzxjjyw_mondo_relaxed.owl acrosyringeal adenomatosis|syringofibroadenoma|eccrine syringofibroadenoma of skin|eccrine syringofibroadenoma|eccrine syringofibroadenomatous hyperplasia|acrosyringeal nevus NCIT:C43356|SCTID:403936002|UMLS:C1266060|HP:0031018|ICDO:8392/0|UMLS:C0473578 owl:Class MONDO:0021110 biolink:NamedThing sweat gland adenoma A benign epithelial neoplasm arising from the sweat glands. Representative examples include tubular apocrine adenoma, syringofibroadenoma, and hidradenoma. tmpaxzxjjyw_mondo_relaxed.owl adenoma, sweat gland, benign|adenoma of sweat gland|adenoma of the sweat gland|sweat gland adenoma ICDO:8400/0|NCIT:C7560 owl:Class MONDO:0014557 biolink:NamedThing ataxia - oculomotor apraxia type 4 Any oculomotor apraxia or related oculomotor disease in which the cause of the disease is a mutation in the PNKP gene. tmpaxzxjjyw_mondo_relaxed.owl PNKP oculomotor apraxia or related oculomotor disease|ataxia-oculomotor apraxia-4|ataxia-oculomotor apraxia 4|ataxia - oculomotor apraxia type 4|AOA4|oculomotor apraxia or related oculomotor disease caused by mutation in PNKP UMLS:C4225397|Orphanet:459033|EFO:0009016|GARD:0013111|OMIM:616267 https://rarediseases.info.nih.gov/diseases/13111/ataxia-oculomotor-apraxia-type-4 owl:Class ENVO:03000055 biolink:NamedThing desublimation of water vapour into ice A desublimation process during which water vapour is frozen into water ice. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002720 biolink:NamedThing positive regulation of cytokine production involved in immune response Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cytokine production during immune response|up-regulation of cytokine production during immune response|positive regulation of cytokine secretion involved in immune response|positive regulation of cytokine biosynthetic process involved in immune response|stimulation of cytokine production during immune response|upregulation of cytokine production during immune response|up regulation of cytokine production during immune response|activation of cytokine production during immune response owl:Class GO:2000181 biolink:NamedThing negative regulation of blood vessel morphogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of blood vessel morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901343 biolink:NamedThing negative regulation of vasculature development Any process that stops, prevents or reduces the frequency, rate or extent of vasculature development. tmpaxzxjjyw_mondo_relaxed.owl inhibition of vasculature development|down regulation of vasculature development|down-regulation of vasculature development|downregulation of vasculature development|down-regulation of vascular system development|downregulation of vascular system development|inhibition of vascular system development|down regulation of vascular system development|negative regulation of vascular system development owl:Class MONDO:0006516 biolink:NamedThing sarcopenia Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10063024|EFO:1000653|MESH:D055948|ICD10:M62.84|UMLS:C0872084 owl:Class MONDO:0019595 biolink:NamedThing 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect tmpaxzxjjyw_mondo_relaxed.owl 46,XY DSD due to adrenal and testicular steroidogenesis defect 2022-03-01 UMLS:CN227657|Orphanet:90786 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class GO:0016248 biolink:NamedThing channel inhibitor activity Binds to and stops, prevents, or reduces the activity of a channel. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012348 biolink:NamedThing maturity-onset diabetes of the young type 8 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the CEL gene. tmpaxzxjjyw_mondo_relaxed.owl MODY type 8|diabetes-pancreatic exocrine dysfunction syndrome|maturity-onset diabetes of the young type 8 with exocrine dysfunction|type 8 maturity-onset diabetes of the young|maturity-onset diabetes of the young (disease) caused by mutation in CEL|diabetes and pancreatic exocrine|MODY8|diabetes mellitus MODY type 8|CEL maturity-onset diabetes of the young (disease)|diabetes and pancreatic exocrine dysfunction|DPED|maturity-onset diabetes of the young, type 8, with exocrine dysfunction|maturity-onset diabetes of the young, type 8 DOID:0111105|OMIM:609812|GARD:0010662|SCTID:609575003|MESH:C565225|Orphanet:552 https://rarediseases.info.nih.gov/diseases/10662/maturity-onset-diabetes-of-the-young-type-8 owl:Class CL:2000007 biolink:NamedThing articular chondrocyte of knee joint Chondrocyte forming the hyaline cartilage found in the knee joint. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-04T14:40:11Z cell owl:Class CL:1001607 biolink:NamedThing articular chondrocyte Chondrocyte forming the hyaline cartilage found in joints. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-0056 owl:Class GO:0071623 biolink:NamedThing negative regulation of granulocyte chemotaxis Any process that decreases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071622 biolink:NamedThing regulation of granulocyte chemotaxis Any process that modulates the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031982 biolink:NamedThing vesicle Any small, fluid-filled, spherical organelle enclosed by membrane. tmpaxzxjjyw_mondo_relaxed.owl membrane-bounded vesicle|membrane-enclosed vesicle owl:Class HP:0000164 biolink:NamedThing Abnormality of the dentition Any abnormality of the teeth. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the teeth|Dental problem|Dental abnormalities|Dental abnormality|Tooth abnormalities|Abnormal teeth|Abnormal dentition|Dental problems|Dental anomalies MSH:D014071|SNOMEDCT_US:422775003|UMLS:C0040427|UMLS:C0262444 Any abnormality of the primary (deciduous) or permanent teeth. HP:0006348|HP:0001567|HP:0006296 human_phenotype owl:Class MONDO:0022618 biolink:NamedThing burning mouth syndrome type 3 tmpaxzxjjyw_mondo_relaxed.owl Psychiatric disorders coexisting with burning mouth syndrome|BMS-3|type 3 burning mouth syndrome UMLS:C2931487|MESH:C537413|GARD:0008558 https://rarediseases.info.nih.gov/diseases/8558/burning-mouth-syndrome-type-3 owl:Class MONDO:0054763 biolink:NamedThing neurodegeneration with brain iron accumulation 7 tmpaxzxjjyw_mondo_relaxed.owl neurodegeneration with brain iron accumulation 7|NBIA7 UMLS:CN895590|OMIM:617916 owl:Class MONDO:0003742 biolink:NamedThing heart fibrosarcoma A usually aggressive malignant neoplasm arising from the heart. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpaxzxjjyw_mondo_relaxed.owl heart fibrosarcoma (disease)|Cardiac fibrosarcoma|heart fibrosarcoma|cardiac fibrosarcoma|fibrosarcoma of the heart|fibrosarcoma of heart UMLS:C1332844|NCIT:C5361|DOID:6033 owl:Class UBERON:0007385 biolink:NamedThing pectoral appendage lymph vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002305 biolink:NamedThing layer of hippocampus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9461 biolink:NamedThing PRPH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021331 biolink:NamedThing carcinoma of parotid gland A carcinoma that involves the parotid gland. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the parotid|carcinoma of parotid|parotid gland cancer|carcinoma of parotid gland|carcinoma of the parotid gland|parotid carcinoma|parotid gland carcinoma EFO:1000460|SCTID:254462001|NCIT:C6791|UMLS:C0345602 owl:Class UBERON:0005362 biolink:NamedThing vagus X ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018103 biolink:NamedThing Quinquaud's folliculitis decalvans Folliculitis decalvans is a rare chronic inflammatory cicatricial alopecia of the scalp occurring in middle-aged adults and characterized by the development of alopecic patches with slowly centrifugal spread predominantly in the vertex and occipital area of the scalp, associated with perifollicular erythema, follicular pustules and hemorrhagic crusts. tmpaxzxjjyw_mondo_relaxed.owl Quinquaud's decalvans folliculitis|folliculitis decalvans|Quinquaud’s disease|Quinquaud's disease GARD:0000373|SCTID:53593008|UMLS:CN227263|Orphanet:346|ICD10:L66.2|ICD9:704.09 https://rarediseases.info.nih.gov/diseases/373/quinquauds-decalvans-folliculitis owl:Class GO:0045907 biolink:NamedThing positive regulation of vasoconstriction Any process that activates or increases the frequency, rate or extent of vasoconstriction. tmpaxzxjjyw_mondo_relaxed.owl stimulation of vasoconstriction|upregulation of vasoconstriction|up regulation of vasoconstriction|up-regulation of vasoconstriction|activation of vasoconstriction owl:Class MONDO:0001586 biolink:NamedThing mucopolysaccharidosis type 1 The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome). tmpaxzxjjyw_mondo_relaxed.owl mucopolysaccharidosis type 1|Hurler syndrome|attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome)|iduronidase deficiency disease|mucopolysaccharidosis I|MPSI|IDUA deficiency|Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V)|MPS 1|Hurler syndrome (subtype)|severe MPS I (subtype, also known as Hurler syndrome)|mucopolysaccharidosis, type 1|mucopolysaccharidosis, MPS-I|mucopolysaccharidosis type I|MPS I - Hurler syndrome|Hurler-Scheie syndrome (subtype)|lipochondrodystrophy|MPS I|MPS1|Alpha-L-iduronidase deficiency GARD:0010335|OMIM:607015|OMIM:607016|ICD10:E76.0|NCIT:C85053|DOID:12802|MedDRA:10056886|SCTID:75610003|OMIM:607014|Orphanet:579 owl:Class MONDO:0004016 biolink:NamedThing pineal region mature teratoma tmpaxzxjjyw_mondo_relaxed.owl pineal area mature teratoma|mature teratoma of the pineal region|mature teratoma of pineal region|mature teratoma of pineal area|mature teratoma of the pineal area UMLS:C1335417|NCIT:C6754|DOID:6857 owl:Class MONDO:0002463 biolink:NamedThing lacrimal gland carcinoma A carcinoma that arises from epithelial cells of the lacrimal gland. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the lacrimal gland|carcinoma of lacrimal gland|lacrimal gland carcinoma NCIT:C6129|UMLS:C1334358|DOID:293 owl:Class MONDO:0002464 biolink:NamedThing lacrimal gland cancer A malignant neoplasm involving the lacrimal gland. tmpaxzxjjyw_mondo_relaxed.owl malignant lacrimal gland tumor|malignant tumor of lacrimal gland|malignant lacrimal gland neoplasm|cancer of lacrimal gland|tumor of the lacrimal gland|malignant neoplasm of lacrimal gland|malignant tumour of lacrimal gland|malignant tumor of the lacrimal gland|malignant neoplasm of the lacrimal gland|lacrimal gland cancer NCIT:C3563|DOID:294|NCIT:C4360|ICD9:190.2|ICD9:239.89|SCTID:127004000 owl:Class MONDO:0019904 biolink:NamedThing ring chromosome 3 Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias. tmpaxzxjjyw_mondo_relaxed.owl rose cluster 3|Ring chromosome type 3|R3|Ring 3|Ring chromosome 3 syndrome|chromosome 3 ring ICD10:Q93.2|UMLS:C4050314|GARD:0010839|SCTID:765486004|NCIT:C121982|Orphanet:96172 https://rarediseases.info.nih.gov/diseases/10839/ring-chromosome-3 owl:Class MONDO:0005872 biolink:NamedThing nervous system cancer A primary or metastatic malignant neoplasm involving the nervous system. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of nervous system|tumor of the nervous system|malignant nervous system neoplasm|neural neoplasm|nervous system cancer|cancer of nervous system|malignant neoplasm of nervous system|malignant tumor of the nervous system|nervous system neoplasms, malignant|neural tumor|malignant nervous system tumor|malignant neoplasm of the nervous system|nervous system neoplasm NCIT:C4788|SCTID:372063002|ICD9:192|ICD9:192.8|DOID:3093|MESH:D009423|EFO:0007392|ICD9:192.9 owl:Class MONDO:0045024 biolink:NamedThing cancer or benign tumor Any disorder that features disrupted cell proliferation. Includes hyperplasia, neoplastic syndrome and isolated neoplasm diseases as well as precancerous conditions. tmpaxzxjjyw_mondo_relaxed.owl cell proliferation disorder|neoplasm owl:Class HGNC:15860 biolink:NamedThing PRPF6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000987 biolink:NamedThing cholesterolosis of gallbladder A disorder characterized by a change in the gallbladder wall due to excess cholesterol. tmpaxzxjjyw_mondo_relaxed.owl strawberry gallbladder DOID:10254|ICD9:575.6|ICD10:K82.4|UMLS:C0152456|SCTID:61565001 owl:Class MONDO:0035008 biolink:NamedThing isolated splenic vein thrombosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:583856 owl:Class MONDO:0019797 biolink:NamedThing acrodysostosis Acrodysostosis (ACRDYS) is a rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay. tmpaxzxjjyw_mondo_relaxed.owl peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome|Arkless-Graham syndrome|acrodysplasia|Maroteaux-Malamut syndrome|nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome UMLS:C0220659|MESH:C538179|GARD:0005724|SCTID:66758006|ICD9:756.59|OMIMPS:101800|OMIM:101800|DOID:14669|ICD10:Q75.4|OMIM:614613|Orphanet:950 https://rarediseases.info.nih.gov/diseases/5724/acrodysostosis owl:Class MONDO:0012984 biolink:NamedThing PHARC syndrome Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. tmpaxzxjjyw_mondo_relaxed.owl polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome|polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract|PHARC syndrome|polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract|PHARC|peripheral neuropathy, Fiskerstrand type MESH:C567203|OMIM:612674|UMLS:C2675204|SCTID:723452007|DOID:0080181|Orphanet:171848 owl:Class MONDO:0006327 biolink:NamedThing ocular sebaceous carcinoma Ocular sebaceous carcinoma is a rare condition and accounts for 1% to 5.5% of eyelid malignancies and is the third most common eyelid malignancy after basal cell and squamous cell carcinoma. It usually affects elderly women, has a high rate of local recurrence, and a tendency to regional and distant metastases. tmpaxzxjjyw_mondo_relaxed.owl eye sebaceous carcinoma|ocular sebaceous carcinoma NCIT:C43340|UMLS:C1709308|EFO:1000405 owl:Class MONDO:0001996 biolink:NamedThing steroid-induced glaucoma - borderline tmpaxzxjjyw_mondo_relaxed.owl borderline glaucoma steroid responder|steroid responders borderline glaucoma SCTID:302895007|UMLS:C0339572|ICD9:365.03|DOID:14548 owl:Class CHEBI:36914 biolink:NamedThing inorganic ion tmpaxzxjjyw_mondo_relaxed.owl inorganic ions owl:Class MONDO:0003542 biolink:NamedThing dental pulp calcification tmpaxzxjjyw_mondo_relaxed.owl pulpal calcifications|pulp calcification|pulp calcifications UMLS:C0011401|ICD10:K04.2|SCTID:57602001|MESH:D003784|DOID:5608 owl:Class GO:0003354 biolink:NamedThing negative regulation of cilium movement Any process that decreases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of flagellum movement|negative regulation of microtubule-based flagellum movement owl:Class UBERON:0011679 biolink:NamedThing proximal tarsal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017811 biolink:NamedThing severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion tmpaxzxjjyw_mondo_relaxed.owl Del(5)(q31.3)|monosomy 5q31.3|5q31.3 microdeletion syndrome UMLS:CN203780|Orphanet:314655|SCTID:768555009|ICD10:Q93.5 owl:Class MONDO:0015410 biolink:NamedThing nasal dorsum fistula/cyst tmpaxzxjjyw_mondo_relaxed.owl Orphanet:141219|ICD10:Q18.8 owl:Class UBERON:0000087 biolink:NamedThing inner cell mass tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010243 biolink:NamedThing X-linked immunoneurologic disorder X-linked immunoneurologic disorder is characterized by immune deficiency and neurological disorders in females, and by neonatal death in males. tmpaxzxjjyw_mondo_relaxed.owl Woods-Black-Norbury syndrome|immunoneurologic disorder, X-linked|X-linked immunoneurological disorder|neonatal death immune deficiency|Woods Black Norbury syndrome Orphanet:2571|OMIM:300076|GARD:0000274|ICD10:D82.8|UMLS:C1848144|MESH:C536743|SCTID:719827008 owl:Class MONDO:0004472 biolink:NamedThing breast columnar cell mucinous carcinoma An invasive breast adenocarcinoma characterized by the presence of tall columnar neoplastic cells that contain intracytoplasmic mucin. Grossly, cystic changes are not identified. tmpaxzxjjyw_mondo_relaxed.owl breast columnar cell mucinous carcinoma DOID:8130|NCIT:C40355|UMLS:C1511305 owl:Class MONDO:0002707 biolink:NamedThing breast mucinous carcinoma An invasive adenocarcinoma of the breast characterized by the presence of islands of small and uniform cells, surrounded by large amounts of mucin. Pure mucinous breast carcinomas generally have a favorable prognosis. tmpaxzxjjyw_mondo_relaxed.owl colloid carcinoma of the breast|infiltrating colloid breast carcinoma|colloid carcinoma of breast|breast mucinous carcinoma|invasive colloid breast carcinoma|mucinous breast carcinoma|infiltrating mucinous breast carcinoma|breast invasive mixed mucinous carcinoma|colloid breast carcinoma|mucinous breast cancer|mucinous carcinoma of the breast|invasive mucinous breast carcinoma|mucinous carcinoma of breast NCIT:C9131|ONCOTREE:IMMC|SCTID:444712000|UMLS:C1334807|DOID:3610 owl:Class MONDO:0000950 biolink:NamedThing asthenopia Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches. tmpaxzxjjyw_mondo_relaxed.owl accommodative strain UMLS:C0004095|MESH:D001248|DOID:10141|ICD10:H53.14 owl:Class MONDO:0018097 biolink:NamedThing West syndrome West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development. tmpaxzxjjyw_mondo_relaxed.owl X-linked infantile spasms|tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG|X-linked infantile spasm syndrome|Infantile spasms syndrome|intellectual disability-hypsarrhythmia syndrome|infantile spasms|West's syndrome OMIM:616139|ICD9:345.60|MedDRA:10021750|OMIM:308350|DOID:0050562|ICD9:348.89|SCTID:28055006|OMIM:300672|OMIM:616341|Orphanet:3451|NCIT:C84788|OMIM:613477|OMIM:617065|GARD:0007887|OMIM:613722|ICD10:G40.4|UMLS:C0037769|OMIM:615006 Editor note: check placement of OMIM IDs and EIEE subtypes owl:Class GO:0035303 biolink:NamedThing regulation of dephosphorylation Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007664 biolink:NamedThing glaucoma 1, open angle, A Any juvenile glaucoma in which the cause of the disease is a mutation in the MYOC gene. tmpaxzxjjyw_mondo_relaxed.owl juvenile glaucoma caused by mutation in MYOC|MYOC juvenile open angle glaucoma|glaucoma 1, open angle, A|JOAG1|glaucoma, primary open angle, juvenile-onset, 1|GLC1A|glaucoma hereditary, juvenile|glaucoma 1, open angle, type A|glaucoma 1, open angle, 50|primary open angle glaucoma juvenile onset 1|MYOC juvenile glaucoma|juvenile open angle glaucoma caused by mutation in MYOC|JOAG1A GARD:0009485|Orphanet:98977|OMIM:137750|MESH:C564234|UMLS:C1842028 owl:Class MONDO:0012910 biolink:NamedThing age-related hearing impairment 1 tmpaxzxjjyw_mondo_relaxed.owl presbycusis 1|ARHI1|age-related hearing impairment 1 MESH:C567305|OMIM:612448|UMLS:C2676230 owl:Class MONDO:0001603 biolink:NamedThing paralytic lagophthalmos tmpaxzxjjyw_mondo_relaxed.owl paralytic lagophthalmos|paralytic lagophthalmos (disease) paralytic lagophthalmos (disease) HP:0030003|UMLS:C0155197|ICD9:374.21|DOID:12958|ICD10:H02.23 owl:Class GO:0003331 biolink:NamedThing positive regulation of extracellular matrix constituent secretion Any process that increases the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008701 biolink:NamedThing achondrogenesis type IA Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage. tmpaxzxjjyw_mondo_relaxed.owl achondrogenesis, type 1A|achondrogenesis Houston-Harris type|achondrogenesis type 1A|achondrogenesis, type IA|ACG1A|Houston-Harris achondrogenesis|achondrogenesis, Houston-Harris type GARD:0000459|Orphanet:93299|DOID:0080054|SCTID:42725006|Orphanet:932|OMIM:200600|ICD9:756.9|ICD10:Q77.0|MESH:C536015 owl:Class MONDO:0019648 biolink:NamedThing achondrogenesis Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10066122|UMLS:C0001079|DOID:0080043|GARD:0002882|ICD10:Q77.0|NCIT:C84527|OMIM:600972|OMIM:200610|OMIMPS:200600|SCTID:2391001|OMIM:200600|Orphanet:932|MESH:C579878 https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis owl:Class MONDO:0021111 biolink:NamedThing ureter neoplasm A benign or malignant neoplasm that affects the ureter. tmpaxzxjjyw_mondo_relaxed.owl tumor of ureter|neoplasms of ureter|neoplasms of the ureter|ureter tumor|ureteral tumor|ureter neoplasm|ureter neoplasm (disease)|neoplasm of the ureter|ureteral neoplasm|tumor of the ureter|neoplasm of ureter EFO:0003844|SCTID:126882009|NCIT:C3427|ICD9:239.5 owl:Class CHEBI:22492 biolink:NamedThing amino aldehyde Any aldehyde which contains an amino group. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:17478 biolink:NamedThing aldehyde A compound RC(=O)H, in which a carbonyl group is bonded to one hydrogen atom and to one R group. tmpaxzxjjyw_mondo_relaxed.owl RC(=O)H|aldehyde|aldehydes|aldehido|RCHO|aldehydum|an aldehyde|aldehidos|Aldehyde|Aldehyd owl:Class MONDO:0008795 biolink:NamedThing aniridia-cerebellar ataxia-intellectual disability syndrome Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl GILLESPIE syndrome|aniridia, cerebellar ataxia, and intellectual disability|Gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation|aniridia, cerebellar ataxia and mental deficiency|GLSP ICD9:759.89|MESH:C536370|Orphanet:1065|SCTID:253176002|GARD:0000013|DOID:0111578|ICD10:G11.0|OMIM:206700|UMLS:C0431401 owl:Class MONDO:0020148 biolink:NamedThing syndromic aniridia A aniridia that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic aniridia|syndrome associated with aniridia UMLS:CN227798|Orphanet:98557 owl:Class MONDO:0019328 biolink:NamedThing macrocystic lymphatic malformation A lymphangioma characterized by the presence of thin-walled cavernous lymphatic spaces. tmpaxzxjjyw_mondo_relaxed.owl cavernous lymphatic malformation|cavernous lymphangioma|macrocystic lymphangioma ICD10:D18.1|NCIT:C53316|Orphanet:79489|GARD:0006010 owl:Class MONDO:0018720 biolink:NamedThing common cystic lymphatic malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:458833 owl:Class MONDO:0011540 biolink:NamedThing spinocerebellar ataxia type 14 Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive ataxia, dysarthria and nystagmus. tmpaxzxjjyw_mondo_relaxed.owl SCA14|spinocerebellar ataxia 14|spinocerebellar ataxia type 14 MESH:C537196|SCTID:719210007|UMLS:C4304883|GARD:0009867|UMLS:C1854369|Orphanet:98763|DOID:0050964|ICD10:G11.2|OMIM:605361 owl:Class MONDO:0019358 biolink:NamedThing encephalopathy due to sulfite oxidase deficiency Encephalopathy due to sulfite oxidase deficiency is a rare neurometabolic disorder characterized by seizures, progressive encephalopathy and lens dislocation. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:833|ICD10:E72.1|OMIM:252150|UMLS:C4275019|OMIM:252160|OMIM:272300|OMIM:615501|SCTID:715980003 owl:Class MONDO:0044663 biolink:NamedThing aquagenic palmoplantar keratoderma Aquagenic syringeal acrokeratoderma is a rare condition affecting the palms of the hands. It is characterized by the appearance or worsening of a palmar eruption, following brief exposure to water. The palmar eruption is made up of small, white or shining pimples that can conjoin into plaques. The feet are unaffected. Symptoms include a burning pain and a tightening sensation in the palms, as well as too much sweating. There are two variants. Most commonly, it is a temporary and recurrent condition that appears after submersion in water, known as the bhand in the bucket sign,b that gets better within minutes to hours of drying. A less common variant is characterized by persistent lesions that are worsened after water submersion. The cause of aquagenic syringeal acrokeratoderma is unknown, but likely relates to sweating. Several studies have found that it is present in about 40% to 84% of cystic fibrosis patients and also in carriers, which suggest that it may be caused by mutations in the CFTR gene. It is more often found in young women. Besides cystic fibrosis, it is also seen in wasting (marasmus) and nephrotic syndrome and also with the use of aspirin and other drugs such as rofecoxib and celecoxib. In most cases it does not need any treatment and resolves spontaneously. When necessary, it can be treated with topical aluminum chloride or salicylic acid ointment or with tap water iontophoresis. tmpaxzxjjyw_mondo_relaxed.owl aquagenic keratoderma|aquagenic syringeal acrokeratoderma|Transient reactive papulotranslucent acrokeratoderma|aquagenic wrinkling of the hands|aquagenic wrinkling of the palms|aquagenic palmoplantar keratoderma|transient reactive papulotranslucent acrokeratoderma GARD:0012991|Orphanet:498359 owl:Class MONDO:0006590 biolink:NamedThing palmoplantar keratosis A group of autosomal dominant, autosomal recessive, X-linked inherited or acquired disorders characterized by the thickening of the palms and soles due to hyperkeratosis. tmpaxzxjjyw_mondo_relaxed.owl keratosis palmaris et plantaris|keratoderma, palmoplantar|palmoplantar keratoderma ICD9:757.39|DOID:3390|SCTID:706885006|ICD10:L85.2|GARD:0008167|EFO:1000745|NCIT:C34748 owl:Class MONDO:0003111 biolink:NamedThing gastric neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the stomach. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpaxzxjjyw_mondo_relaxed.owl NET of stomach|stomach neuroendocrine tumor, well differentiated, low or intermediate grade|stomach NET|neuroendocrine tumor of stomach|stomach neuroendocrine tumor|neuroendocrine neoplasm of stomach|gastric neuroendocrine neoplasm|neuroendocrine neoplasm of the stomach|neuroendocrine tumor of the stomach|stomach neuroendocrine neoplasm DOID:4715|SCTID:721194008|Orphanet:100075|NCIT:C5696|UMLS:C1333783 owl:Class MONDO:0007435 biolink:NamedThing dentatorubral-pallidoluysian atrophy Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation. tmpaxzxjjyw_mondo_relaxed.owl dentatorubral-pallidoluysian atrophy|Naito-Oyanagi disease|haw River syndrome|myoclonic epilepsy with choreoathetosis|Naito Oyanagi disease|DRPLA|Dentatorubropallidoluysian atrophy|dentatorubral pallidoluysian atrophy|NOD|ataxia, chorea, seizures, and dementia GARD:0005643|Orphanet:101|ICD9:333.99|ICD10:G11.8|DOID:0060162|OMIM:125370|NCIT:C122653|SCTID:68116008|UMLS:C0751781 https://rarediseases.info.nih.gov/diseases/5643/dentatorubral-pallidoluysian-atrophy owl:Class MONDO:0021464 biolink:NamedThing benign neoplasm of cecum A benign neoplasm that involves the caecum. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of cecum|benign tumor of the cecum|benign cecum neoplasm|benign neoplasm of the cecum|benign cecum tumor|caecum benign neoplasm UMLS:C0496859|ICD10:D12.0|SCTID:92040001|NCIT:C4772 owl:Class MONDO:0011396 biolink:NamedThing loricrin keratoderma A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission. tmpaxzxjjyw_mondo_relaxed.owl keratoderma hereditarium mutilans with ichthyosis|Vohwinkel syndrome, variant form|Camisa disease|keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome|Vohwinkel syndrome with ichthyosis|mutilating keratoderma with ichthyosis|loricrin keratoderma ICD10:Q82.8|SCTID:717183001|MESH:C565826|Orphanet:79395|OMIM:604117|UMLS:C1858805 https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0002189 biolink:NamedThing nodular hidradenoma A benign epithelial neoplasm arising from the sweat glands. It presents as a nodular lesion usually in the scalp, trunk, and proximal extremities. It is characterized by a nodular growth pattern. Complete excision is curative. tmpaxzxjjyw_mondo_relaxed.owl nodular hidradenoma|solid and cystic hidradenoma|eccrine nodular hidradenoma DOID:2061|ICDO:8402/0|SCTID:253020008|NCIT:C7568 owl:Class MONDO:0012030 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 43 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p12. tmpaxzxjjyw_mondo_relaxed.owl DFNA43|autosomal dominant nonsyndromic deafness type 43|autosomal dominant nonsyndromic deafness 43|deafness, autosomal dominant 43|autosomal dominant deafness 43 DOID:0110568|ICD10:H90.3|UMLS:C1842108|OMIM:608394|MESH:C564246 owl:Class CHEBI:75768 biolink:NamedThing mammalian metabolite Any animal metabolite produced during a metabolic reaction in mammals. tmpaxzxjjyw_mondo_relaxed.owl mammalian metabolites owl:Class MONDO:0019680 biolink:NamedThing genochondromatosis type 2 Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. tmpaxzxjjyw_mondo_relaxed.owl OMIM:137360|UMLS:CN206604|SCTID:725904009|UMLS:C4511481|Orphanet:93398 owl:Class CL:0000035 biolink:NamedThing single fate stem cell A stem cell that self-renews as well as give rise to a single mature cell type. tmpaxzxjjyw_mondo_relaxed.owl unipotent stem cell|unipotential stem cell FMA:70569 cell owl:Class MONDO:0010325 biolink:NamedThing X-linked intellectual disability, Stocco dos Santos type tmpaxzxjjyw_mondo_relaxed.owl SDSX|mental retardation, X-linked, Stocco Dos Santos type|intellectual disability, Stocco dos Santos type|intellectual disability, X-linked, Stocco Dos Santos type|mental retardation, Stocco dos Santos type|Stocco dos Santos syndrome|Stocco DOS Santos X-linked intellectual disability syndrome|Sdsx|Stocco DOS Santos X-linked mental retardation syndrome OMIM:300434|ICD10:Q87.8|Orphanet:85288|SCTID:718910006|UMLS:C1845530|MESH:C537495|GARD:0001133 owl:Class GO:0001960 biolink:NamedThing negative regulation of cytokine-mediated signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the cytokine mediated signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cytokine mediated signalling pathway|down regulation of cytokine mediated signaling pathway|downregulation of cytokine mediated signaling pathway|negative regulation of cytokine mediated signaling pathway|negative regulation of cytokine and chemokine mediated signaling pathway|down-regulation of cytokine mediated signaling pathway|inhibition of cytokine mediated signaling pathway owl:Class MONDO:0011035 biolink:NamedThing neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS). tmpaxzxjjyw_mondo_relaxed.owl Noonan neurofibromatosis syndrome|neurofibromatosis type 1-Noonan syndrome|neurofibromatosis with Noonan phenotype|neurofibromatosis-Noonan syndrome|Noonan-neurofibromatosis syndrome|NFNS Orphanet:638|OMIM:601321|ICD10:Q87.1|GARD:0000372|MESH:D009456|SCTID:715344006|DOID:0111683|MESH:C537393 https://rarediseases.info.nih.gov/diseases/372/neurofibromatosis-noonan-syndrome owl:Class MONDO:0044926 biolink:NamedThing oropharyngeal carcinoma Carcinoma, predominantly squamous cell, arising from the epithelial cells of the oropharynx. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of oropharynx|oropharyngeal carcinoma|oropharyngeal throat cancer|carcinoma of the oropharynx|cancer of the oropharynx|oropharyngeal cancer|cancer of oropharynx|oropharynx carcinoma NCIT:C9105 owl:Class MONDO:0007908 biolink:NamedThing multiple symmetric lipomatosis Multiple symmetric lipomatosis (MSL) is a rare subcutaneous tissue disease characterized by growth of symmetric non-encapsulated masses of adipose tissue mostly around the face and neck with variable clinical repercussions (e.g. reduced neck mobility, compression of respiratory structures). tmpaxzxjjyw_mondo_relaxed.owl benign symmetrical lipomatosis|cervical symmetrical lipomatosis|Madelung disease|multiple symmetrical lipomatosis|Madelung's disease|Launois-Bensaude's lipomatosis|Madelung's neck|cephalothoracic lipodystrophy|lipomatosis, multiple symmetric|multiple symmetric lipomatosis|lipomatosis, familial benign cervical|familial benign cervical lipomatosis|familial symmetric lipomatosis|Launois-Bensaude syndrome|MSL|Launois-Bensaude lipomatosis|lipodystrophy, cephalothoracic ICD10:E88.8|SCTID:238902007|Orphanet:2398|DOID:14116|UMLS:C0023804|EFO:1000737|NCIT:C4392|GARD:0006957|UMLS:CN201658|UMLS:C0024445|OMIM:151800 https://rarediseases.info.nih.gov/diseases/6957/multiple-symmetric-lipomatosis owl:Class CL:0000306 biolink:NamedThing crystallin accumulating cell tmpaxzxjjyw_mondo_relaxed.owl lens cell FBbt:00004193 cell owl:Class UBERON:0000127 biolink:NamedThing facial nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005582 biolink:NamedThing binge eating disorder Recurrent episodes of over-eating. tmpaxzxjjyw_mondo_relaxed.owl binge eating disorder|binge eating MESH:D002032|SCTID:439960005|NCIT:C97162|EFO:0005924 owl:Class MONDO:0014345 biolink:NamedThing retinitis pigmentosa 69 Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 69|KIZ retinitis pigmentosa|RP69|retinitis pigmentosa caused by mutation in KIZ|retinitis pigmentosa type 69 OMIM:615780|DOID:0110410|ICD10:H35.5|UMLS:C4014312 owl:Class MONDO:0006345 biolink:NamedThing palmar fibromatosis A superficial fibromatosis arising from the soft tissue of the palm. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It predominantly affects adult males. tmpaxzxjjyw_mondo_relaxed.owl Dupuytren contracture (disease)|Dupuytren's contracture|palmar fibromatosis|Dupuytren contracture|palmar part of manus fibromatosis HP:0005679|EFO:0004229|SCTID:203045001|NCIT:C3469|MESH:D004387|SCTID:274142002|EFO:1000438 owl:Class GO:0099500 biolink:NamedThing vesicle fusion to plasma membrane Fusion of the membrane of a vesicle with the plasma membrane, thereby releasing its contents into the extracellular space. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006906 biolink:NamedThing vesicle fusion Fusion of the membrane of a transport vesicle with its target membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012182 biolink:NamedThing skeletal dysplasia, rhizomelic, with retinitis pigmentosa tmpaxzxjjyw_mondo_relaxed.owl skeletal dysplasia, rhizomelic, with retinitis pigmentosa MESH:C563806|UMLS:C1836898|OMIM:609047 owl:Class MONDO:0013325 biolink:NamedThing COG5-CDG COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. tmpaxzxjjyw_mondo_relaxed.owl CDG III|CDG syndrome type 3|congenital disorder of glycosylation type III|congenital disorder of glycosylation type 2i|CDG2I|congenital disorder of glycosylation, type III|carbohydrate deficient glycoprotein syndrome type III|CDG syndrome type III|COG5-CDG (CDG-III)|CDG-III UMLS:C3150876|ICD10:E77.8|DOID:0070261|GARD:0001173|Orphanet:263487|SCTID:721100009|OMIM:613612|GARD:0012348 https://rarediseases.info.nih.gov/diseases/1173/cdg-syndrome-type-3 owl:Class MONDO:0015637 biolink:NamedThing benign non-familial infantile seizures tmpaxzxjjyw_mondo_relaxed.owl ICD10:G40.4|Orphanet:166295|UMLS:CN226716 owl:Class MONDO:0016136 biolink:NamedThing cerebellar ataxia with peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 ICD10:G60.2|Orphanet:207028 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: cerebellar ataxia' MONDO_0000437 owl:Class MONDO:0700119 biolink:NamedThing distal chromosome 18q deletion syndrome Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. tmpaxzxjjyw_mondo_relaxed.owl distal 18q deletion syndrome|distal 18q-|distal 18q deletion GARD:0010865 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0011147 biolink:NamedThing chromosome 18q deletion syndrome A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts. tmpaxzxjjyw_mondo_relaxed.owl partial deletion of the long arm of chromosome 18|18q deletion syndrome|proximal 18q deletion|monosomy 18q|proximal 18q deletion syndrome|partial monosomy of the long arm of chromosome 18|chromosome 18q deletion|deletion 18q|partial monosomy of chromosome 18q|chromosome 18q deletion syndrome|partial deletion of the long arm of chromosome type 18|proximal chromosome 18q deletion syndrome|chromosome 18Q- syndrome|monosomy type 18q|monosomy 18q syndrome|18Q- syndrome|deletion 18q syndrome|18q-syndrome|partial deletion of chromosome 18q|proximal 18q-|18Q syndrome SCTID:270889005|UMLS:C0432443|ICD10:Q93.5|OMIM:601808|NCIT:C84522|MESH:C536580|ICD9:758.39|GARD:0010866|GARD:0013000|DOID:0060407|Orphanet:262146|Orphanet:1600 owl:Class HGNC:29508 biolink:NamedThing KIDINS220 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000196 biolink:NamedThing positive regulation of female gonad development Any process that activates or increases the frequency, rate or extent of female gonad development. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of ovarian development|positive regulation of ovary development owl:Class MONDO:0006970 biolink:NamedThing sialolithiasis A concretion in the salivary gland. tmpaxzxjjyw_mondo_relaxed.owl salivary gland Stone|sialolith|Stone of salivary gland or duct MESH:D015494|ICD10:K11.5|UMLS:C0036091|ICD9:527.5|EFO:1001180|SCTID:28826002|MedDRA:10040631|DOID:12905|NCIT:C34994 owl:Class MONDO:0006663 biolink:NamedThing perinatal asphyxia A disorder caused by a lack of blood flow or gas exchange to or from the fetus in the period immediately before, during, or after the birth process. tmpaxzxjjyw_mondo_relaxed.owl fetal asphyxia|hypoxic-ischemic encephalopathy|asphyxia - birth|perinatal hypoxia|postnatal asphyxia|hypoxic and ischemic brain injury in the newborn|asphyxia, in liveborn infant|HIE|hypoxia neonatorum|asphyxia neonatorum|neonatal hypoxic and ischemic brain injury|birth asphyxia|perinatal depression|perinatal asphyxia|birth depression|intrapartum asphyxia MESH:D001238|ICD9:768.9|DOID:11088|NCIT:C116313|SCTID:28314004|Orphanet:137577|EFO:1000824|UMLS:C0004045|ICD10:P84|GARD:0005857 Pathophysiology: There are three stages to brain injury in hypoxic-ischemic encephalopathy. First, there is an immediate primary neuronal injury that occurs due to interruption of oxygen and glucose to the brain. This decreases ATP and results in failure of the ATP-dependent NaK pump. Sodium enters the cell followed by water, causing cell swelling, widespread depolarization, and cell death. Cell death and lysis cause release of glutamate, an excitatory amino acid, which causes an increase in intracellular calcium and further cell death. Following the immediate injury is a latent period of about six hours, during which reperfusion occurs, and some cells recover. Late secondary neuronal injury occurs over the next 24-48 hours as reperfusion results in blood flow to and from damaged areas, spreading toxic neurotransmitters and widening the area of brain affected.[NBK430782] https://rarediseases.info.nih.gov/diseases/5857/asphyxia-neonatorum owl:Class HGNC:10942 biolink:NamedThing SLC1A4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019567 biolink:NamedThing Ehlers-Danlos syndrome, classic type, 1 Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene. tmpaxzxjjyw_mondo_relaxed.owl EDS I|type I Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type I|Ehlers-Danlos syndrome, classic type, 1|EDSCL1|Ehlers-Danlos syndrome, type 1 DOID:14720|OMIM:130000|ICD10:Q79.6|Orphanet:90309|NCIT:C125696|MESH:C536194|UMLS:C0268335|SCTID:83470009 owl:Class MONDO:0007522 biolink:NamedThing Ehlers-Danlos syndrome, classic type Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility. tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, gravis type|Ehlers-Danlos syndrome classical type|Ehlers Danlos syndrome, mitis type, formerly|Ehlers-Danlos syndrome, type II, formerly|Ehlers Danlos syndrome, mild classic type, formerly|EDS I|EDS, classic type|EDS II|Ehlers-Danlos syndrome type 1 (formerly)|Ehlers-Danlos syndrome, type II|Ehlers-Danlos syndrome, type I|Ehlers-Danlos syndrome, severe classic type, formerly|Ehlers-Danlos syndrome, gravis type, formerly|classical Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, severe classic type|classic Ehlers-Danlos syndrome|Ehlers-Danlos syndrome classic type|EDS I, formerly|EDS II, formerly|Ehlers Danlos syndrome, mild classic type|Ehlers Danlos syndrome, mitis type|Ehlers-Danlos syndrome, type I, formerly|Ehlers-Danlos syndrome type 2|Ehlers-Danlos syndrome type 2 (formerly)|Ehlers-Danlos syndrome, classic type GARD:0002088|Orphanet:287|UMLS:C0220679|ICD10:Q79.6|UMLS:C4225429|Orphanet:90309|SCTID:715318006|UMLS:C0268335 owl:Class GO:0019637 biolink:NamedThing organophosphate metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. tmpaxzxjjyw_mondo_relaxed.owl organophosphate metabolism owl:Class GO:0006793 biolink:NamedThing phosphorus metabolic process The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). tmpaxzxjjyw_mondo_relaxed.owl phosphorus metabolism owl:Class MONDO:0019802 biolink:NamedThing secondary short bowel syndrome Secondary short bowel syndrome is an intestinal failure caused by any condition that results in a functional small intestine of less than 200 cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206757|Orphanet:95427|ICD10:K91.2 owl:Class MONDO:0015183 biolink:NamedThing short bowel syndrome Short bowel syndrome is an intestinal failure due to either a congenital defect, intestinal infarction or extensive surgical resection of the intestinal tract that results in a functional small intestine of less than 200cm in length and is characterized by diarrhea, nutrient malabsoption, bowel dilation and dysmobility. tmpaxzxjjyw_mondo_relaxed.owl acquired short bowel syndrome|short gut syndrome Orphanet:104008|DOID:10605|MESH:D012778|ICD9:579.3|MedDRA:10049416|SCTID:26629001|UMLS:C0036992|NCIT:C99059|GARD:0001502 https://rarediseases.info.nih.gov/diseases/1502/short-bowel-syndrome owl:Class MONDO:0011238 biolink:NamedThing chondrodysplasia punctata, brachytelephalangic, autosomal tmpaxzxjjyw_mondo_relaxed.owl brachytelephalangic chondrodysplasia punctata|chondrodysplasia punctata, brachytelephalangic, autosomal OMIM:602497 owl:Class MONDO:0019161 biolink:NamedThing pseudohypoaldosteronism type 1 Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration. tmpaxzxjjyw_mondo_relaxed.owl PHA1B|PHA type 1|pseudohypoaldosteronism type I autosomal recessive OMIM:177735|SCTID:43941006|UMLS:C0268436|ICD9:275.8|ICD10:N25.8|Orphanet:756|MESH:D011546|NCIT:C123251|OMIM:264350 owl:Class MONDO:0003937 biolink:NamedThing spondylitis The inflammation of a vertebra. tmpaxzxjjyw_mondo_relaxed.owl inflammation of vertebra|vertebra inflammation ICD9:720.8|NCIT:C116779|ICD9:720.89|MESH:D013166|ICD10:M46|DOID:6590|SCTID:84172003 owl:Class MONDO:0017465 biolink:NamedThing congenital pseudoarthrosis of the radius tmpaxzxjjyw_mondo_relaxed.owl congenital pseudarthrosis of the radius ICD10:Q74.0|Orphanet:295024 owl:Class MONDO:0021979 biolink:NamedThing Basaran Yilmaz syndrome A congenital hypotrichosis that is characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. Other features include progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region. tmpaxzxjjyw_mondo_relaxed.owl keratoderma, hypotrichosis and leukonychia totalis GARD:0000833|UMLS:C2931577|MESH:C537660 https://rarediseases.info.nih.gov/diseases/833/basaran-yilmaz-syndrome owl:Class MONDO:0024633 biolink:NamedThing hypertensive nephropathy Kidney damage that results from chronically elevated blood pressure; complications include glomerular damage resulting in proteinuria and hematuria. tmpaxzxjjyw_mondo_relaxed.owl hypertensive nephropathy|HNP1|hypertensive renal disease OMIM:608026|MESH:C563161|ICD9:403.90|NCIT:C4757|SCTID:38481006|UMLS:C0848548 owl:Class UBERON:0001898 biolink:NamedThing hypothalamus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020805 biolink:NamedThing benign basal cell neoplasm A neoplasm composed of basal cells that remains localized and does not metastasize to other anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl benign basal cell tumor NCIT:C4743 owl:Class CHEBI:50584 biolink:NamedThing alkyl alcohol An aliphatic alcohol in which the aliphatic alkane chain is substituted by a hydroxy group at unspecified position. tmpaxzxjjyw_mondo_relaxed.owl hydroxyalkanes|alkyl alcohols|hydroxyalkane owl:Class CHEBI:2571 biolink:NamedThing aliphatic alcohol An alcohol derived from an aliphatic compound. tmpaxzxjjyw_mondo_relaxed.owl Aliphatic alcohol|aliphatic alcohols|an aliphatic alcohol owl:Class MONDO:0032762 biolink:NamedThing hearing loss, autosomal recessive 115 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 115|DFNB115 OMIM:618457|DOID:0111643 owl:Class MONDO:0017347 biolink:NamedThing plasmablastic lymphoma An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone. tmpaxzxjjyw_mondo_relaxed.owl Plasmablastic lymphoma|PBL|PLBL ICDO:9735/3|NCIT:C7224|MESH:D000069293|ONCOTREE:PLBL|MedDRA:10065039|UMLS:C3472614|GARD:0012125|ICD10:C83.3|Orphanet:289666|ICDO:9684/3|SCTID:724648008 https://rarediseases.info.nih.gov/diseases/12125/plasmablastic-lymphoma owl:Class SO:0000001 biolink:NamedThing region A sequence_feature with an extent greater than zero. A nucleotide region is composed of bases and a polypeptide region is composed of amino acids. tmpaxzxjjyw_mondo_relaxed.owl sequence owl:Class GO:0008611 biolink:NamedThing ether lipid biosynthetic process The chemical reactions and pathways resulting in the formation of ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol. tmpaxzxjjyw_mondo_relaxed.owl ether lipid synthesis|ether lipid anabolism|ether lipid biosynthesis|ether lipid formation|plasmalogen biosynthetic process owl:Class MONDO:0007286 biolink:NamedThing cataract 30 A cataract that has material basis in heterozygous mutation in the VIM gene on chromosome 10p13. tmpaxzxjjyw_mondo_relaxed.owl cataract 30, pulverulent|CTRCT30|cataract 30|cataract Coppock-like|cataract 30 pulverulent|cataract type 30|cataract 30, multiple types OMIM:116300|MESH:C566157|Orphanet:98984|DOID:0110248|Orphanet:91492|ICD10:Q12.0|UMLS:C3805411 owl:Class MONDO:0001446 biolink:NamedThing low compliance bladder tmpaxzxjjyw_mondo_relaxed.owl low bladder compliance|hyperactivity of bladder|hypertonic bladder|hypertonicity of bladder DOID:12144|ICD9:596.52|UMLS:C0489967|SCTID:9009001 owl:Class HGNC:21014 biolink:NamedThing ANTXR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002936 biolink:NamedThing scrotum basal cell carcinoma A scrotal carcinoma that involves the basal cell. tmpaxzxjjyw_mondo_relaxed.owl basal cell carcinoma of the scrotum|scrotum skin basal cell carcinoma|basal cell carcinoma of scrotum|basal cell scrotal carcinoma|skin basal cell carcinoma of scrotum|scrotal basal cell carcinoma UMLS:C1335934|NCIT:C6386|DOID:4278 owl:Class UBERON:0001176 biolink:NamedThing right hepatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024456 biolink:NamedThing anterior segment dysgenesis 3 An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1) tmpaxzxjjyw_mondo_relaxed.owl IRID1|iridogoniodysgenesis type 1|glaucoma iridogoniodysplasia, familial|IGDA syndrome|anterior segment dysgenesis 3|glaucoma iridogoniodysgenesia|iridogoniodysgenesis anomaly, autosomal dominant|iris hypoplasia with glaucoma|FOXC1 iridogoniodysgenesis|iridogoniodysgenesis caused by mutation in FOXC1|ASGD3|IGDA|iridogoniodysgenesis, type 1 GARD:0002482|MESH:C535535|OMIM:601631|DOID:0080608|GARD:0002978|UMLS:C1839928 Editor note: check GARD re 2482 https://rarediseases.info.nih.gov/diseases/2482/glaucoma-iridogoniodysgenesia owl:Class MONDO:0002289 biolink:NamedThing iris disorder A disease involving the iris. tmpaxzxjjyw_mondo_relaxed.owl disease of iris|disease or disorder of iris|disorder of iris|iris disease or disorder|iris disorder|iris disease NCIT:C34737|UMLS:C0022078|MESH:D007499|SCTID:85478004|DOID:240 owl:Class HGNC:11812 biolink:NamedThing TRIM24 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011110 biolink:NamedThing humeroulnar joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6740 biolink:NamedThing LYZ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002896 biolink:NamedThing primary syphilis The subclinical or symptomatic stage of syphilis, occurring at an average of three weeks after contact with an infected individual. It manifests with one or more painless, indurated ulcers (chancres) of the skin or mucous membranes at the site of inoculation. These lesions heal spontaneously within a few weeks. tmpaxzxjjyw_mondo_relaxed.owl early syphilis, symptomatic|early symptomatic syphilis|symptomatic early syphilis DOID:4156|UMLS:C0153139|ICD9:091|UMLS:C2931317|NCIT:C128412|SCTID:186846005|MESH:C536772 owl:Class MONDO:0021607 biolink:NamedThing eyelid seborrheic keratosis A seborrheic keratosis that involves the eyelid. tmpaxzxjjyw_mondo_relaxed.owl basal cell papilloma of the eyelid|seborrheic keratosis of eyelid|eyelid seborrheic keratosis|basal cell papilloma of eyelid|seborrheic keratosis of the eyelid|eyelid basal cell papilloma SCTID:231826004|NCIT:C4356|UMLS:C0339109 owl:Class MONDO:0001463 biolink:NamedThing splenic flexure cancer A malignant neoplasm involving the splenic flexure of colon. tmpaxzxjjyw_mondo_relaxed.owl splenic flexure of colon cancer|malignant neoplasm of splenic flexure|malignant splenic flexure of colon neoplasm|malignant tumor of splenic flexure|cancer of splenic flexure of colon|Ca splenic flexure - colon|malignant neoplasm of splenic flexure of colon ICD9:153.7|ICD10:C18.5|UMLS:C0153440|SCTID:363413005|DOID:12191 owl:Class MONDO:0001462 biolink:NamedThing descending colon cancer A malignant neoplasm involving the descending colon. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of descending colon|descending colon cancer|cancer of descending colon|malignant tumor of descending colon|malignant neoplasm of left colon|malignant descending colon neoplasm|Ca descending colon UMLS:C0153435|ICD9:153.2|SCTID:363409003|DOID:12190|ICD10:C18.6 owl:Class MONDO:0002472 biolink:NamedThing carcinoma ex pleomorphic adenoma A carcinoma arising in a pre-existing pleomorphic adenoma. It most often occurs in the parotid gland and less often in the submandibular gland and minor salivary gland. Patients usually present with a history of a long-standing mass which recently had undergone rapid growth. The prognosis depends on the invasiveness of the malignant component. Patients with non-invasive or minimally invasive tumors usually have a good prognosis following surgical resection. Invasive tumors are usually aggressive and are associated with recurrences and metastases. tmpaxzxjjyw_mondo_relaxed.owl carcinoma ex pleomorphic adenoma|carcinoma in pleomorphic adenoma|carcinoma ex pleomorphic adenoma (morphologic abnormality) ICDO:8941/3|NCIT:C4397|UMLS:C0344460 owl:Class MONDO:0004489 biolink:NamedThing fallopian tube gestational choriocarcinoma A malignant trophoblastic tumor that arises from the fallopian tube during pregnancy. tmpaxzxjjyw_mondo_relaxed.owl gestational choriocarcinoma of the fallopian tube|fallopian tube gestational choriocarcinoma|gestational choriocarcinoma of fallopian tube NCIT:C6278|DOID:8186|UMLS:C1333593 owl:Class MONDO:0006206 biolink:NamedThing fallopian tube carcinoma A carcinoma that arises from epithelial cells of the fallopian tube. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of fallopian tube|carcinoma of the fallopian tube|fallopian tube Ca|fallopian tube carcinoma|cancer of the fallopian tube|fallopian tube cancer|cancer of fallopian tube DOID:1963|NCIT:C3867|SCTID:276870001|UMLS:C0238122|EFO:1000251 owl:Class MONDO:0017884 biolink:NamedThing papillary renal cell carcinoma A rare subtype of renal cell carcinoma, arising from the renal tubular epithelium and showing a papillary growth pattern, which typically manifests with hematuria, flank pain, palpable abdominal mass or nonspecific symptoms, such as fatigue, weight loss or fever. Symptoms related to metastatic spread, such as bone pain or persistent cough, are frequently associated since early diagnosis is not common. It is typically multifocal, bilateral, and in most cases sporadic, although different hereditary syndromes, such as Hereditary leiomyoma renal cell carcinoma, Birt-Hogg-DubC) syndrome and Tuberous sclerosis, may predispose to the development of papillary renal cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl papillary renal cell cancer|chromophil RCC|chromophil carcinoma of the kidney|papillary renal cell adenocarcinoma|HPRCC|RCCP1|renal adenocarcinoma|papillary (chromophil) renal cell carcinoma|renal cell carcinoma, papillary, type 1|papillary kidney carcinoma|papillary renal cell carcinoma, sporadic - (subtype)|papillary renal cell carcinoma|chromophil carcinoma of kidney|sporadic papillary renal cell carcinoma|chromophil renal cell carcinoma|papillary renal carcinoma, malignant - (subtype)|papillary renal cell carcinoma, familial - (subtype)|RCCP|papillary renal cell carcinoma, multiple - (subtype)|renal cell carcinoma, papillary, 1|papillary renal cell carcinoma, bilateral - (subtype) OMIM:605074|NCIT:C6975|Orphanet:319298|UMLS:C0879257|EFO:0000640|GARD:0009572|UMLS:C1336078|GARD:0009575|SCTID:733608000|Orphanet:47044|DOID:4465|ONCOTREE:PRCC|UMLS:C1306837|ICD10:C64|UMLS:CN205129|MESH:D002292 https://rarediseases.info.nih.gov/diseases/9572/papillary-renal-cell-carcinoma owl:Class MONDO:0026045 biolink:NamedThing prurigo nodularis Prurigonodularis (PN) is a skin disease in which hard crusty lumps are formed on the skin that itches intensely. Repetitive rubbing, scratching, and touching results in more lesions in the skin. The itching is so intense that people scratch themselves to the point of bleeding or pain. The lumps formed in the skin are hard, and have about a half inch across, with a dry and rough top that is often scratched open. They tend to be located in the areas most easily reached and are worse on the outer sides: arms, shoulders and legs. The trunk, face and even palms can also be affected. The exact cause is unknown but some factors triggering PN include liver and kidneys problems, nervous and mental conditions and other skin diseases. Prurigo nodulares, in some cases, can be seen in other diseases such as lymphoma, chronic autoimmune cholestatic hepatitis, HIV infection, severe anemia,or a chronic kidney disease-related itching known as uremic pruritus. Treatment is very difficult, and may include corticoids, antihistaminic and other medication such as thalidomide and similar (Lenalidomide). In some cases, cryotherapy, photochemotherapy and habit reversal therapy for the itch-scratch cycle has improved the symptoms. PN can last for many years, and the itching is so intense that may affect all the everyday activities. tmpaxzxjjyw_mondo_relaxed.owl GARD:0007480 owl:Class MONDO:0044887 biolink:NamedThing central nervous system non-hodgkin lymphoma A non-Hodgkin lymphoma that arises from the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl Primary Central nervous system non-Hodgkin lymphoma|non-Hodgkin lymphoma of central nervous system|Central nervous system non-Hodgkin lymphoma|central nervous system non-Hodgkin lymphoma NCIT:C114779|SCTID:448254007|UMLS:C2213246 owl:Class MONDO:0002571 biolink:NamedThing primary central nervous system lymphoma A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis. tmpaxzxjjyw_mondo_relaxed.owl primary brain lymphoma|lymphoma of central nervous system|PCNSL|malignant lymphomas of CNS|microglioma|central nervous system lymphoma|primary central nervous system lymphoma|malignant lymphomas of the CNS|CNS lymphoma|primary lymphoma, CNS|primary CNS lymphoma MedDRA:10036685|ONCOTREE:PCNSL|DOID:3234|EFO:1000157|NCIT:C9301|SCTID:307649006|ICD9:200.5|GARD:0009318|Orphanet:46135|UMLS:C0742472|ICD10:C83.3 MONDO:0018732 owl:Class MONDO:0019169 biolink:NamedThing pyruvate dehydrogenase deficiency Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency. tmpaxzxjjyw_mondo_relaxed.owl PDHC|pyruvate dehydrogenase complex deficiency disease|deficiency of pyruvic dehydrogenase|pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pyruvate dehydrogenase complex deficiency|PDH ICD9:277.89|OMIM:614111|ICD10:E74.4|SCTID:46683007|OMIM:246900|SCTID:124593001|OMIM:245349|EFO:0007459|OMIMPS:312170|OMIM:312170|NCIT:C103968|Orphanet:79243|DOID:3649|OMIM:608782|OMIM:245348|GARD:0007513|Orphanet:765 owl:Class MONDO:0024659 biolink:NamedThing colorectal Kaposi sarcoma A Kaposi sarcoma that arises from the colon or rectum. tmpaxzxjjyw_mondo_relaxed.owl large intestine Kaposi's sarcoma (disease)|large intestinal Kaposi sarcoma|Kaposi's sarcoma (disease) of large intestine|colorectal Kaposi sarcoma NCIT:C96510|UMLS:C3272833 owl:Class MONDO:0100165 biolink:NamedThing permanent neonatal diabetes mellitus 1 A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well. tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, permanent, of infancy|PDMI|PNDM1 OMIM:606176 http://orcid.org/0000-0001-5208-3432 owl:Class HP:0004378 biolink:NamedThing Abnormality of the anus Abnormality of the anal canal. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the anus UMLS:C4025329 The anal canal is continuous proximally with the rectum and distally terminates with the anus. peter 2008-03-18T08:11:00Z human_phenotype owl:Class HP:0012732 biolink:NamedThing Anorectal anomaly An abnormality of the anus or rectum. tmpaxzxjjyw_mondo_relaxed.owl MSH:D000071056|UMLS:C3495676|SNOMEDCT_US:33225004 peter 2014-03-23T02:48:00Z human_phenotype owl:Class UBERON:8400024 biolink:NamedThing subcapsular region of liver tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014433 biolink:NamedThing Bardet-Biedl syndrome 4 tmpaxzxjjyw_mondo_relaxed.owl BBS4|Bardet-Biedl syndrome type 4|Bardet-Biedl syndrome 4 EFO:0009024|UMLS:C2936864|Orphanet:110|OMIM:615982|ICD10:Q87.89|DOID:0110126|MESH:C537912|OMIM:209900|GARD:0000823 https://rarediseases.info.nih.gov/diseases/823/bardet-biedl-syndrome-4 owl:Class MONDO:0002317 biolink:NamedThing central nervous system origin vertigo An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (ear, inner); vestibular nerve; brainstem; or cerebral cortex. Lesions in the temporal lobe and parietal lobe may be associated with focal seizures that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1) tmpaxzxjjyw_mondo_relaxed.owl vertigo of central origin|central vestibular vertigo UMLS:C0155503|SCTID:38403006|ICD9:386.2|DOID:2479|ICD10:H81.4|ICD10:H81.49 owl:Class MONDO:0009016 biolink:NamedThing band keratopathy The deposition of calcium on the cornea, resulting in pain and decreased visual acuity. tmpaxzxjjyw_mondo_relaxed.owl band-shaped keratopathy|corneal dystrophy, band-SHAPED|band keratopathy UMLS:C0155120|DOID:11164|SCTID:35055000|ICD10:H18.42|NCIT:C118765|ICD9:371.43|MESH:C562399|OMIM:217500 owl:Class MONDO:0006825 biolink:NamedThing kuru A prion disease found exclusively among the Fore linguistic group natives of the highlands of new guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773) tmpaxzxjjyw_mondo_relaxed.owl kuru encephalopathy ICD9:046.0|GARD:0007617|DOID:648|SCTID:86188000|MedDRA:10023497|MESH:D007729|EFO:1001008|ICD10:A81.81|Orphanet:454745|ICD10:A81.8|OMIM:245300|UMLS:C0022802 https://rarediseases.info.nih.gov/diseases/7617/kuru owl:Class UBERON:0036243 biolink:NamedThing vaginal fluid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012562 biolink:NamedThing holoprosencephaly 7 Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene. tmpaxzxjjyw_mondo_relaxed.owl holoprosencephaly 7|PTCH1 holoprosencephaly|HPE7|holoprosencephaly caused by mutation in PTCH1|holoprosencephaly type 7 UMLS:C1835820|Orphanet:2162|OMIM:610828|DOID:0110876|MESH:C563660 owl:Class MONDO:0003303 biolink:NamedThing neurofibroma of gallbladder A non-metastasizing encapsulated neoplasm arising from nerves in the gallbladder. Morphologically, it is characterized by the presence of fibroblasts and Schwann cells. tmpaxzxjjyw_mondo_relaxed.owl neurofibroma of the gallbladder|neurofibroma of gall bladder|gallbladder neurofibroma|neurofibroma of gallbladder|gall bladder neurofibroma NCIT:C5746|UMLS:C1333751|DOID:5150 owl:Class UBERON:0011593 biolink:NamedThing maxillary tooth tmpaxzxjjyw_mondo_relaxed.owl owl:Class IAO:0000033 biolink:NamedThing directive information entity An information content entity whose concretizations indicate to their bearer how to realize them in a process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class IAO:0000030 biolink:NamedThing information content entity A generically dependent continuant that is about some thing. tmpaxzxjjyw_mondo_relaxed.owl information content entity owl:Class UBERON:0002168 biolink:NamedThing left lung tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000277 biolink:NamedThing Abnormality of the mandible Any abnormality of the mandible, the bone of the lower jaw. tmpaxzxjjyw_mondo_relaxed.owl Anomaly of the mandible|Malformation of the lower jaw bone|Abnormality of the mandible|Deformity of the lower jaw bone|Abnormality of the lower jaw bone|Malformation of the mandible|Deformity of the mandible UMLS:C4025870 HP:0000209 human_phenotype owl:Class MONDO:0100090 biolink:NamedThing congenital alveolar dysplasia due to FGF10 Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the FGF10 gene. tmpaxzxjjyw_mondo_relaxed.owl CAD due to FGF10 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3190 owl:Class MONDO:0021447 biolink:NamedThing benign neoplasm of testis A benign neoplasm that involves the testis. tmpaxzxjjyw_mondo_relaxed.owl testis benign neoplasm|benign tumor of testis|benign testicular neoplasm|benign testicular tumor|benign neoplasm of the testis|benign tumor of the testis NCIT:C3612|UMLS:C0154007|SCTID:92428008|ICD9:222.0 owl:Class MONDO:0002899 biolink:NamedThing differentiating neuroblastoma A neuroblastoma in which the differentiating neuroblasts constitute more than five-percent of the tumor cells. tmpaxzxjjyw_mondo_relaxed.owl differentiating neuroblastoma NCIT:C42048|DOID:4160|UMLS:C1511934 owl:Class GO:1901698 biolink:NamedThing response to nitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to nitrogen molecular entity owl:Class MONDO:0015658 biolink:NamedThing cerebral diseases of vascular origin with epilepsy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:166487|UMLS:CN200067 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: nervous system disorder' MONDO_0005071 owl:Class HP:0005607 biolink:NamedThing Abnormal tracheobronchial morphology tmpaxzxjjyw_mondo_relaxed.owl Tracheobronchial anomalies UMLS:C4021631|Fyler:4232 peter 2008-03-28T09:03:00Z HP:0005940 human_phenotype owl:Class MONDO:0011669 biolink:NamedThing hypotonia-cystinuria syndrome A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl hypotonia-cystinuria syndrome|homozygous 2P16 deletion syndrome, formerly|hypotonia-cystinuria syndrome type 1|homozygous 2P16 deletion syndrome|HCS|hypotonia-cystinuria type 1 syndrome|cystinuria with mitochondrial disease|homozygous 2P21 deletion syndrome ICD10:E72.0|Orphanet:163693|UMLS:CN226952|DOID:0060858|MESH:C564710|Orphanet:238517|OMIM:606407|Orphanet:238523|EFO:0007550|Orphanet:163690|SCTID:721173005 owl:Class MONDO:0003860 biolink:NamedThing cerebellopontine angle meningioma A meningioma that affects the cerebellopontine angle. tmpaxzxjjyw_mondo_relaxed.owl meningioma of the cerebellar Pontine angle|meningioma of the cerebellopontine angle|meningioma of the C-P angle|meningioma of cerebellopontine angle|C-P angle meningioma|meningioma of cerebellar Pontine angle|meningioma (disease) of cerebellopontine angle|meningioma of C-P angle|cerebellopontine angle meningioma (disease)|cerebellar Pontine angle meningioma DOID:6337|SCTID:126948004|UMLS:C1263882|NCIT:C5300 owl:Class MONDO:0019796 biolink:NamedThing acrocephalosyndactyly Acrocephalosyndactyly (ACS) syndromes represent a group of inherited congenital malformation disorders characterized by craniosynostosis and fusion or webbing of the fingers or toes, often with other associated manifestations. tmpaxzxjjyw_mondo_relaxed.owl ACS|acrocephalosyndactylia|acrocephalosyndactyly OMIM:101200|SCTID:268262006|Orphanet:946|ICD9:755.55|OMIM:101120|NCIT:C34348|DOID:12960|MedDRA:10000590|OMIM:101600|EFO:0004123|ICD10:Q87.0|GARD:0000486|OMIM:101400|MESH:D000168 owl:Class MONDO:0025096 biolink:NamedThing malignant catarrh A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte. tmpaxzxjjyw_mondo_relaxed.owl catarrhal fevers, malignant|malignant Catarrhs|Catarrhs, malignant|malignant catarrhal fever|catarrhal fever, malignant|malignant catarrhal fevers|catarrh, malignant|fevers, malignant catarrhal|fever, malignant catarrhal SCTID:24043009|UMLS:C0276241|MESH:D008304 owl:Class MONDO:0020648 biolink:NamedThing rubella encephalitis tmpaxzxjjyw_mondo_relaxed.owl SCTID:192689006 owl:Class MONDO:0002749 biolink:NamedThing extracranial neuroblastoma A neuroblastoma arising from an anatomic site other than the brain. tmpaxzxjjyw_mondo_relaxed.owl extracranial neuroblastoma UMLS:C1333499|DOID:371|NCIT:C5437 owl:Class MONDO:0008168 biolink:NamedThing ovarian fibroma A benign neoplasm arising from soft tissue of the ovary. It is characterized by the presence of spindle-shaped fibroblasts. tmpaxzxjjyw_mondo_relaxed.owl ovarian fibromata|fibroma of the ovary|ovarian fibroma|ovarian fibroma (disease)|fibroma of ovary ovarian fibroma (disease) ICD10:D27|OMIM:166970|Orphanet:314473|MedDRA:10064257|HP:0010618|UMLS:C0149951|NCIT:C3498|SCTID:254865006|MESH:C562391 owl:Class MONDO:0007310 biolink:NamedThing Charcot-Marie-Tooth disease, Guadalajara neuronal type tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, Guadalajara neuronal type OMIM:118230|MESH:C566137|UMLS:C1861673 Editor note: consider relationship to type 2 owl:Class MONDO:0004997 biolink:NamedThing chondroblastoma A benign, chondroid-producing, well-circumscribed, lytic neoplasm usually arising from the epiphysis of long bones. It is characterized by the presence of chondroblasts, osteoclast-like giant cells, chondroid formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. It occurs most frequently in children and young adults and rarely metastasizes. tmpaxzxjjyw_mondo_relaxed.owl chondroblastoma of bone|chondroblastoma|chondroblastoma (disease)|CHBL chondroblastoma (disease) EFO:0000331|ONCOTREE:CHBL|MESH:D002804|GARD:0006047|UMLS:C0008441|HP:0030432|ICDO:9230/0|NCIT:C2945|DOID:2649 owl:Class MONDO:0024470 biolink:NamedThing benign chondrogenic neoplasm A non-metastasizing cartilaginous matrix-producing neoplasm characterized by the presence of neoplastic chondrocytes. Representative examples include osteochondroma and chondroma. tmpaxzxjjyw_mondo_relaxed.owl chondrogenic neoplasm, benign|benign chondrogenic neoplasm|benign cartilaginous tumor|benign chondrogenic tumor|benign neoplasm of the cartilage|benign cartilaginous neoplasm|benign neoplasm of cartilage|benign tumor of the cartilage|benign tumor of cartilage UMLS:C0852519|SCTID:722690001|NCIT:C8592 owl:Class MONDO:0031439 biolink:NamedThing short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:617877 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0008207 biolink:NamedThing chondromalacia patellae Familial chondromalacia patellae is an inherited bone disorder described in 5 families in 1963 and is characterized by localized patellar pain and male-to-male transmission. tmpaxzxjjyw_mondo_relaxed.owl softening of articular cartilage of patella|chondromalacia patellae|familial chondromalacia patellae|chondromalacia of patella|patella, chondromalacia OF|patella chondromalacia ICD9:717.7|UMLS:C0008475|Orphanet:1428|SCTID:36071006|DOID:13357|OMIM:168900|ICD10:M22.4|MESH:D046789 owl:Class MONDO:0002342 biolink:NamedThing chondromalacia Pathological processes involving the chondral tissue (cartilage). tmpaxzxjjyw_mondo_relaxed.owl ICD9:733.92|ICD10:M94.2|DOID:2557|MESH:D002357|UMLS:C0085700|SCTID:63198006|ICD10:M94.20 owl:Class UBERON:0004537 biolink:NamedThing blood vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016509 biolink:NamedThing microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome tmpaxzxjjyw_mondo_relaxed.owl microcornea posterior megalolenticonus persistent fetal vasculature coloboma|MPPC syndrome GARD:0010938|ICD10:Q15.8|UMLS:CN201521|Orphanet:231736 owl:Class MONDO:0015664 biolink:NamedThing idiopathic pulmonary artery dilatation Idiopathic pulmonary artery dilatation is a rare developmental defect during embryogenesis characterized by the dilatation of the main pulmonary artery, with or without dilatation of the right and left pulmonary artery branches, and not attributed to any other cardiac, pulmonary and/or arterial wall disease. It may present with exertional dyspnea, fatigue, cough, hemoptysis, palpitation and chest pain, but may also be asymptomatic. In serious cases, trachea constriction due to postural changes may lead to attacks of cyanosis with severe dyspnea. Sudden cardiac death has been reported in some cases. tmpaxzxjjyw_mondo_relaxed.owl idiopathic dilatation of the pulmonary artery GARD:0006757|Orphanet:1676|ICD10:E25.7 https://rarediseases.info.nih.gov/diseases/6757/idiopathic-dilatation-of-the-pulmonary-artery owl:Class MONDO:0014055 biolink:NamedThing epilepsy, familial adult myoclonic, 4 tmpaxzxjjyw_mondo_relaxed.owl FAME4|cortical myoclonic tremor with epilepsy, familial, 4|epilepsy, familial ADULT myoclonic, 4 DOID:0111693|OMIM:615127|Orphanet:86814|UMLS:C3554560 owl:Class UBERON:0003968 biolink:NamedThing peripheral lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014536 biolink:NamedThing thrombocytopenia 5 Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene. tmpaxzxjjyw_mondo_relaxed.owl thrombocytopenia caused by mutation in ETV6|THC5|thrombocytopenia 5|thrombocytopenia 5 with increased susceptibility to malignancy|thrombocytopenia, autosomal dominant, 5|ETV6 thrombocytopenia|thrombocytopenia type 5 OMIM:616216|UMLS:C4015537 owl:Class GO:0022839 biolink:NamedThing ion gated channel activity Enables the transmembrane transfer of a solute by a channel that opens in response to a specific ion stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0022836 biolink:NamedThing gated channel activity Enables the transmembrane transfer of a solute by a channel that opens in response to a specific stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050865 biolink:NamedThing regulation of cell activation Any process that modulates the frequency, rate or extent of cell activation, the change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008628 biolink:NamedThing ureterocele A cystic and dysplastic dilation of the distal ureter within the bladder that may extend into the bladder neck and urethra. tmpaxzxjjyw_mondo_relaxed.owl ureterocele|ureterocele (disease) ureterocele (disease) HP:0000070|SCTID:12818004|DOID:4022|OMIM:191650|ICD9:593.89|EFO:1001227|MESH:D014518|MedDRA:10056433|NCIT:C123159 owl:Class MONDO:0018572 biolink:NamedThing severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.8|Orphanet:436141|UMLS:CN237585 owl:Class MONDO:0021394 biolink:NamedThing polyp of vagina A polyp that involves the vagina. tmpaxzxjjyw_mondo_relaxed.owl vagina polyp|polyp of the vagina|vaginal polyp|polyp, vaginal, benign UMLS:C0156390|ICD10:N84.2|SCTID:29609001|NCIT:C3664|ICD9:623.7 owl:Class HGNC:30242 biolink:NamedThing TUSC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905747 biolink:NamedThing negative regulation of saliva secretion Any process that stops, prevents or reduces the frequency, rate or extent of saliva secretion. tmpaxzxjjyw_mondo_relaxed.owl downregulation of salivation|inhibition of saliva secretion|down regulation of saliva secretion|down regulation of salivation|inhibition of salivation|downregulation of saliva secretion|negative regulation of salivation|down-regulation of saliva secretion|down-regulation of salivation owl:Class MONDO:0012045 biolink:NamedThing myopia 5, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl myopia 5, autosomal dominant|MYP5 OMIM:608474|MESH:C563922|UMLS:C1837972 owl:Class MONDO:0019593 biolink:NamedThing 46,XX disorder of sex development induced by fetal androgens excess tmpaxzxjjyw_mondo_relaxed.owl 46,XX DSD induced by fetal androgens excess ICD10:E25.0|UMLS:CN227655|Orphanet:90776 owl:Class MONDO:0600018 biolink:NamedThing acinar dysplasia caused by mutation in FGFR2 Any acinar dysplasia in which the cause of the disease is a mutation in the FGFR2 gene. tmpaxzxjjyw_mondo_relaxed.owl FGFR2 related acinar dysplasia|FGFR2 acinar dysplasia http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3188 owl:Class MONDO:0600016 biolink:NamedThing acinar dysplasia A lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4. tmpaxzxjjyw_mondo_relaxed.owl AcDys http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3188 owl:Class MONDO:0010727 biolink:NamedThing Russell-silver syndrome, X-linked tmpaxzxjjyw_mondo_relaxed.owl Russell-Silver-like syndrome with skin pigmentation|Partington syndrome|Russell-silver syndrome, X-linked ICD9:758.81|SCTID:702412005|Orphanet:813|OMIM:312780 owl:Class MONDO:0012467 biolink:NamedThing cold-induced sweating syndrome 2 Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene. tmpaxzxjjyw_mondo_relaxed.owl cold-induced sweating syndrome caused by mutation in CLCF1|CISS2|cold-induced sweating syndrome type 2|CLCF1 cold-induced sweating syndrome|CRISPONI/cold-induced sweating syndrome 2|Crisponi/cold-induced sweating syndrome 2|cold-induced sweating syndrome 2 OMIM:610313|MESH:C564791|Orphanet:157820|UMLS:C1853198|DOID:0080330 owl:Class GO:0000963 biolink:NamedThing mitochondrial RNA processing The conversion of a primary RNA molecule transcribed from a mitochondrial genome into one or more mature RNA molecules; occurs in the mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002165 biolink:NamedThing rectal neoplasm A benign or malignant neoplasm that affects the rectum. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Rectal adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. tmpaxzxjjyw_mondo_relaxed.owl tumor of the rectum|rectum neoplasm|rectum neoplasm (disease)|neoplasm of the rectum|tumor of rectum|neoplasm of rectum|rectal tumor|rectum tumor|rectal neoplasm UMLS:C0034885|SCTID:126847008|NCIT:C3350|MESH:D012004|DOID:1984 owl:Class MONDO:0001779 biolink:NamedThing vaginal squamous papilloma A benign papillary neoplasm that arises from the vagina and is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. There is no evidence of atypia or relation to human papillomavirus. tmpaxzxjjyw_mondo_relaxed.owl squamous papilloma of the vagina|squamous papilloma of vagina|vagina squamous papilloma|vaginal squamous papilloma DOID:137|NCIT:C6374|UMLS:C1336943 owl:Class MONDO:0001806 biolink:NamedThing vaginal squamous tumor A benign or malignant neoplasm that arises from the squamous epithelium of the vagina. Representative examples include condyloma acuminatum, squamous papilloma, and squamous cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl vagina squamous cell neoplasm|vaginal squamous neoplasm|vaginal squamous tumor DOID:138|UMLS:C1519931|NCIT:C40242 owl:Class MONDO:0018026 biolink:NamedThing tetraploidy syndrome The presence of four sets of chromosomes. It is associated with abnormalities, multiple; and miscarrages. tmpaxzxjjyw_mondo_relaxed.owl tetraploidy SCTID:726363000|GARD:0005151|ICD10:Q92.7|MESH:D057891|UMLS:C0795884|Orphanet:3305 https://rarediseases.info.nih.gov/diseases/5151/tetraploidy owl:Class MONDO:0007757 biolink:NamedThing hyperkeratosis-hyperpigmentation syndrome Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993. tmpaxzxjjyw_mondo_relaxed.owl hyperkeratosis-hyperpigmentation syndrome MESH:C564172|Orphanet:1336|OMIM:144190|ICD10:Q82.8|UMLS:C1840428 owl:Class MONDO:0006865 biolink:NamedThing necrotizing ulcerative gingivitis A bacterial infectious process affecting the gums. It is characterized by the development of necrotic, ulcerated, and painful lesions with creation of pseudomembranes extending along the gingival margins. tmpaxzxjjyw_mondo_relaxed.owl phagedenic gingivitis|acute ulceromembranous gingivitis|Vincent's angina - pharyngitis|Vincent's angina|acute necrotizing ulcerative gingivitis|acute necrotizing ulcerative gingivostomatitis|Vincent's infection, any site|acute necrotising ulcerative gingivitis|acute necrotising ulcerative gingivostomatitis|Vincent's infection|Vincent angina|early acute necrotising gingivitis|trench mouth|acute necrotising ulcerative gingivitis [ambiguous]|acute membranous gingivitis|Vincent's gingivitis|Fusospirillary gingivitis|angina - Vincents|Vincent's stomatitis|Vincent's disease|acute necrotising ulcerative gingivostomatitis [ambiguous]|ANUG|Fusospirillosis NCIT:C34637|ICD10:A69.1|UMLS:C0017575|ICD9:101|GARD:0005736|EFO:1001058|SCTID:186963008|MESH:D005892|DOID:13924 owl:Class UBERON:0015147 biolink:NamedThing pinna hair tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022735 biolink:NamedThing choroid plexus cyst tmpaxzxjjyw_mondo_relaxed.owl CPC - choroid plexus cyst|choroid plexus cyst GARD:0001309|SCTID:230790004|NCIT:C4351 https://rarediseases.info.nih.gov/diseases/1309/choroid-plexus-cyst owl:Class MONDO:0005262 biolink:NamedThing central nervous system cyst A congenital or acquired cyst that is present in the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl cyst of CNS|cysts, Rathke cleft|Rathke's cleft cysts|cleft cysts, Rathke's|Rathkes cleft cysts|cysts, central nervous system|suprasellar cyst|cysts, suprasellar|cyst of the Central nervous system|cyst, suprasellar|Rathke cleft cysts|cyst of Central nervous system|cyst of the CNS|central nervous system cyst|suprasellar cysts|central nervous system cyst (disease)|CNS cyst central nervous system cyst (disease) MESH:D020863|UMLS:C0349606|NCIT:C4657|SCTID:277333006|EFO:0003760|HP:0030724 owl:Class MONDO:0009240 biolink:NamedThing formiminoglutamic aciduria Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia. tmpaxzxjjyw_mondo_relaxed.owl glutamate formiminotransferase deficiency|formiminotransferase deficiency syndrome|FTCD deficiency|formiminoglutamic aciduria|Arakawa syndrome 1|Formiminoglutamicaciduria (FIGLU-Uria)|Figlu-Uria|formiminotransferase cyclodeaminase deficiency|formiminotransferase deficiency|formiminoglutamic acidemia GARD:0009279|DOID:0111679|MESH:C537425|UMLS:C0268609|Orphanet:51208|OMIM:229100|SCTID:59761008|ICD10:E70.8|ICD9:270.8 owl:Class UBERON:0005637 biolink:NamedThing pyloric region epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019385 biolink:NamedThing steroid-responsive encephalopathy associated with autoimmune thyroiditis tmpaxzxjjyw_mondo_relaxed.owl SREAT|Hashimoto's encephalopathy|Hashimoto's encephalitis|steroid-responsive encephalopathy associated with thyroid disease|Hashimoto encephalitis Orphanet:83601|ICD10:G04.8|MESH:C535841|GARD:0008570|UMLS:C0393639 Editor note: TODO DP for chebi roles owl:Class HP:0011028 biolink:NamedThing Abnormality of blood circulation An abnormality of blood circulation. tmpaxzxjjyw_mondo_relaxed.owl Blood circulation disorder UMLS:C4020760|UMLS:C4023585 peter 2011-03-03T10:25:21Z human_phenotype owl:Class GO:1903706 biolink:NamedThing regulation of hemopoiesis Any process that modulates the frequency, rate or extent of hemopoiesis. tmpaxzxjjyw_mondo_relaxed.owl regulation of blood cell biosynthesis|regulation of blood cell formation|regulation of haemopoiesis|regulation of hematopoiesis owl:Class MONDO:0017267 biolink:NamedThing self-healing collodion baby Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life. tmpaxzxjjyw_mondo_relaxed.owl self-improving collodion baby|SHCB|SICI|self-improving congenital ichthyosis OMIM:242100|ICD10:Q80.2|SCTID:718632004|Orphanet:281122|OMIM:242300|OMIM:606545|UMLS:C1855789 owl:Class MONDO:0043494 biolink:NamedThing arteritis An inflammatory process affecting an artery. tmpaxzxjjyw_mondo_relaxed.owl Inflammation, arterial|arteritis|Arteritides|artery inflammation|inflammation of artery|arterial Inflammation NCIT:C34399|SCTID:52089001|EFO:0009011|HP:0012089|MESH:D001167 owl:Class MONDO:0004675 biolink:NamedThing mitochondrial encephalomyopathy A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162666|SCTID:447292006|MESH:D017237|DOID:890|ICD9:277.87 owl:Class MONDO:0021027 biolink:NamedThing genetic hair anomaly An instance of hair anomaly that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic hair anomaly Orphanet:183450 owl:Class MONDO:0004458 biolink:NamedThing bladder mixed adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511192|NCIT:C39839|DOID:8096 owl:Class GO:0045540 biolink:NamedThing regulation of cholesterol biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. tmpaxzxjjyw_mondo_relaxed.owl regulation of cholesterol anabolism|regulation of cholesterol formation|regulation of cholesterol biosynthesis|regulation of cholesterol synthesis owl:Class GO:0000803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17228 biolink:NamedThing RAD54B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010896 biolink:NamedThing pigment dispersion syndrome Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women. Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance. At least one gene locus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed. tmpaxzxjjyw_mondo_relaxed.owl pigment dispersion syndrome|glaucoma-RELATED pigment dispersion syndrome|pigment-dispersion syndrome|glaucoma-related pigment dispersion syndrome|pigment-dispersion type glaucoma|glaucoma, pigment-dispersion type|GPDS1 UMLS:C1271398|Orphanet:26823|OMIM:600510|MESH:C563184|SCTID:392133001|DOID:0060680|GARD:0004356 https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome owl:Class GO:0009068 biolink:NamedThing aspartate family amino acid catabolic process The chemical reactions and pathways resulting in the breakdown of amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. tmpaxzxjjyw_mondo_relaxed.owl aspartate family amino acid catabolism|aspartate family amino acid degradation|aspartate family amino acid breakdown owl:Class CHEBI:33848 biolink:NamedThing polycyclic arene A polycyclic aromatic hydrocarbon. tmpaxzxjjyw_mondo_relaxed.owl PAHs|polycyclic aromatic hydrocarbons|PAH|polycyclic arenes owl:Class CHEBI:33666 biolink:NamedThing polycyclic hydrocarbon tmpaxzxjjyw_mondo_relaxed.owl polycyclic hydrocarbons|polycyclic hydrocarbon owl:Class MONDO:0012469 biolink:NamedThing myopia 14 tmpaxzxjjyw_mondo_relaxed.owl myopia 14|MYP14 UMLS:C1853196|MESH:C565202|OMIM:610320 owl:Class MONDO:0020567 biolink:NamedThing apnea of prematurity Apnea of prematurity is a developmental disorder affecting premature infants, likely secondary to an immaturity of respiratory control resulting in idiopathic pauses in breathing often associated with reduced heart rate and arterial blood oxygen levels. It may be exacerbated by concurrent neonatal diseases. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98823|Orphanet:99981|SCTID:276544005|ICD10:P28.4 owl:Class MONDO:0019092 biolink:NamedThing infantile apnea Infantile apnea is a cessation of respiratory air flow that may affect newborns or older children because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms include cyanosis, pallor or bradycardia and snoring in case of obstructive apnea. tmpaxzxjjyw_mondo_relaxed.owl apnea of infancy UMLS:C0745261|UMLS:CN205590|Orphanet:70590|GARD:0006779|SCTID:724229002 owl:Class MONDO:0017418 biolink:NamedThing chronic intestinal failure Chronic intestinal failure (CIF) is a chronic type of intestinal failure characterized by a nonfunctioning small bowel (that may be reversible or irreversal) where the body is unable to maintain energy and nutritional needs through absorption of food or nutrients via the intestinal tract (despite being metabolically stable) and which therefore necessitates long-term parenteral feeding. CIF may be the result of congenital digestive diseases (such as gastroschisis, atresia of small intestine), short bowel syndrome, intra-abdominal or pelvic cancer, or progressive and devastating gastrointestinal or systemic benign diseases (such as Crohn disease). tmpaxzxjjyw_mondo_relaxed.owl CIF SCTID:716665002|UMLS:CN203168|UMLS:C4274352|Orphanet:294422 owl:Class UBERON:0008819 biolink:NamedThing inferior mediastinum tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6692 biolink:NamedThing Pleocyemata tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6683 biolink:NamedThing Decapoda tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001021 biolink:NamedThing ametropic amblyopia tmpaxzxjjyw_mondo_relaxed.owl refractive amblyopia SCTID:90927000|DOID:10377|ICD9:368.03|ICD10:H53.02|UMLS:C0152190 owl:Class MONDO:0001020 biolink:NamedThing amblyopia Decreased vision that results from abnormal visual development. tmpaxzxjjyw_mondo_relaxed.owl amblyopia|lazy eye|amblyopia (disease) amblyopia (disease) ICD9:368.00|CSP:1114-9655|ICD10:H53.00|DOID:10376|SCTID:387742006|HP:0000646|NCIT:C118764|UMLS:C0002418 owl:Class MONDO:0011790 biolink:NamedThing Amish lethal microcephaly Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year. tmpaxzxjjyw_mondo_relaxed.owl Amish lethal microcephaly|MCPHA|thiamine metabolism dysfunction syndrome 3 (microcephaly type)|microcephaly, Amish type ICD10:Q02|MESH:C538247|UMLS:C1846648|SCTID:702437000|OMIM:607196|GARD:0008606|Orphanet:99742 https://rarediseases.info.nih.gov/diseases/8606/amish-lethal-microcephaly owl:Class MONDO:0017119 biolink:NamedThing syndrome with microcephaly as major feature tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:269528|UMLS:CN202469 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class HGNC:8858 biolink:NamedThing PEX3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054860 biolink:NamedThing hearing loss, autosomal recessive 110 tmpaxzxjjyw_mondo_relaxed.owl DFNB110|deafness, autosomal recessive 110 OMIM:618094|DOID:0111644 owl:Class MONDO:0014110 biolink:NamedThing cataract 15 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MIP gene. tmpaxzxjjyw_mondo_relaxed.owl MIP early-onset non-syndromic cataract|cataract 15, multiple types|CTRCT15|early-onset non-syndromic cataract caused by mutation in MIP Orphanet:98989|Orphanet:98991|Orphanet:91492|Orphanet:98995|UMLS:C3809001|ICD10:Q12.0|OMIM:615274|DOID:0110251|Orphanet:98985|Orphanet:98994 owl:Class MONDO:0032575 biolink:NamedThing diarrhea 9 tmpaxzxjjyw_mondo_relaxed.owl DIAR9|DIARRHEA 9 OMIM:618168 owl:Class HGNC:2548 biolink:NamedThing CUBN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015585 biolink:NamedThing cryptogenic late-onset epileptic spasms Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity. tmpaxzxjjyw_mondo_relaxed.owl late-onset infantile spasms Orphanet:163708 owl:Class MONDO:0020072 biolink:NamedThing childhood-onset epilepsy syndrome A epilepsy syndrome that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric epilepsy syndrome|childhood epilepsy syndrome|childhood-onset epilepsy syndrome|epilepsy syndrome of childhood ICD10:G40.4|Orphanet:98259|UMLS:CN206976 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class MONDO:0019488 biolink:NamedThing myoclonic epilepsy in non-progressive encephalopathies A rare epilepsy syndrome characterized by recurrent, long-lasting myoclonic status in infants and young children with a non-progressive encephalopathy, associated with transient and recurring motor, cognitive and/or behavioral disturbances. tmpaxzxjjyw_mondo_relaxed.owl myoclonus epilepsy in non-progressive encephalopathies|myoclonic status in non-progressive encephalopathies ICD10:G40.4|Orphanet:86913 owl:Class GO:0018130 biolink:NamedThing heterocycle biosynthetic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). tmpaxzxjjyw_mondo_relaxed.owl heterocycle anabolism|heterocycle formation|heterocycle biosynthesis|heterocycle synthesis owl:Class MONDO:0020557 biolink:NamedThing pleuropulmonary blastoma type 3 A pleuropulmonary blastoma characterized by a solid pattern and sarcomatous features. It usually follows an aggressive clinical course. tmpaxzxjjyw_mondo_relaxed.owl type III pleuropulmonary blastoma ICD10:C34.9|NCIT:C45628|ICD10:C34.3|Orphanet:99935|ICD9:162.9|ICD10:C34.1|SCTID:707673006|ICD10:C34.8|ICD10:C34.2|UMLS:CN207459 owl:Class MONDO:0008749 biolink:NamedThing pseudohypoparathyroidism type 2 Pseudohypoparathyroidism type 2 (PHP2) is a type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH), which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy (AHO), and normal expression of the Gs protein with a normal urinary cAMP response. tmpaxzxjjyw_mondo_relaxed.owl PHP II|PHP2|Php 2|pseudohypoparathyroidism, type II OMIM:203330|SCTID:42183005|UMLS:C2932717|GARD:0010682|UMLS:CN206737|MESH:C548077|ICD10:E20.1|Orphanet:94090|ICD9:275.49 https://rarediseases.info.nih.gov/diseases/10682/pseudohypoparathyroidism-type-2 owl:Class MONDO:0007398 biolink:NamedThing craniorhiny tmpaxzxjjyw_mondo_relaxed.owl craniorhiny OMIM:123050|MESH:C565144|Orphanet:157832|UMLS:C1852501|ICD10:Q30.8 owl:Class MONDO:0044797 biolink:NamedThing desmoplastic nevus A benign melanocytic nevus characterized by the presence of desmoplastic stroma. tmpaxzxjjyw_mondo_relaxed.owl Desmoplastic Nevus NCIT:C4497|UMLS:C0346098 owl:Class MONDO:0044794 biolink:NamedThing benign melanocytic skin nevus A benign, circumscribed proliferation of melanocytes in the skin. Variants include the Spitz nevus, halo nevus, blue nevus, and balloon cell nevus. tmpaxzxjjyw_mondo_relaxed.owl benign nevus of the skin|benign melanocytic nevus of the skin|benign melanocytic nevus|benign melanocytic skin nevus|benign mole|benign nevus of skin|benign skin nevus|benign melanocytic nevus of skin NCIT:C7571|UMLS:C1456781 Editor note: TODO logical def owl:Class GO:0051119 biolink:NamedThing sugar transmembrane transporter activity Enables the transfer of a sugar from one side of a membrane to the other. A sugar is any member of a class of sweet, water-soluble, crystallizable carbohydrates, which are the monosaccharides and smaller oligosaccharides. tmpaxzxjjyw_mondo_relaxed.owl sugar/polyol channel activity owl:Class GO:0015144 biolink:NamedThing carbohydrate transmembrane transporter activity Enables the transfer of carbohydrate from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl carbohydrate transporter activity|sugar transporter owl:Class MONDO:0004188 biolink:NamedThing iris spindle cell melanoma A spindle cell melanoma that involves the iris. tmpaxzxjjyw_mondo_relaxed.owl spindle cell melanoma of the iris|iris spindle cell melanoma|spindle cell melanoma of iris DOID:7328|NCIT:C6098|UMLS:C1334287 owl:Class HGNC:2372 biolink:NamedThing MED23 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003206 biolink:NamedThing acquired hemangioma A hemangioma that is not present at birth but develops later in life. tmpaxzxjjyw_mondo_relaxed.owl acquired hemangioma DOID:492|UMLS:C0856897|NCIT:C27018 owl:Class UBERON:0004796 biolink:NamedThing prostate gland secretion tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0140112 biolink:NamedThing extracellular vesicle biogenesis The assembly and secretion a set of components to form an extracellular vesicule, a membrane-bounded vesicle that is released into the extracellular region. Extracellular vesicles include exosomes, microvesicles and apoptotic bodies, based on the mechanism by which they are released from cells and differentiated based on their size and content. tmpaxzxjjyw_mondo_relaxed.owl extracellular vesicle assembly owl:Class GO:0044085 biolink:NamedThing cellular component biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. tmpaxzxjjyw_mondo_relaxed.owl cellular component biogenesis at cellular level owl:Class MONDO:0010436 biolink:NamedThing chromosome Xq28 duplication syndrome tmpaxzxjjyw_mondo_relaxed.owl chromosome Xq28 duplication syndrome UMLS:C2749007|Orphanet:1762|OMIM:300815|MESH:C567580 owl:Class MONDO:0010283 biolink:NamedThing syndromic X-linked intellectual disability Lubs type Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, syndromic, Lubs type|MECP2 duplication syndrome|Lubs X-linked intellectual disability syndrome|intellectual disability, X-linked, Lubs type (formerly)|X-linked intellectual disability-hypotonia-recurrent infections syndrome|trisomy Xq28|XLMR syndrome, Lubs type|MECP2 Duplication syndrome|distal duplication Xq|Lubs X-linked mental retardation syndrome|Lubs X-linked intellectual disability syndrome (formerly)|syndromic X-linked intellectual disability Lubs type|telomeric duplication Xq|MRXSL|intellectual disability, X-linked, syndromic, Lubs type|mental retardation, X-linked, with recurrent respiratory infections|mental retardation, X-linked, Lubs type (formerly)|Lubs X-linked mental retardation syndrome (formerly)|intellectual disability, X-linked, with recurrent respiratory infections DOID:0060799|NCIT:C126747|OMIM:300815|ICD10:Q99.8|ICD9:758.89|UMLS:C1846058|OMIM:300260|GARD:0009781|SCTID:702816000|ICD10:Q87.8|MESH:C537723|Orphanet:1762 owl:Class HGNC:19194 biolink:NamedThing HMCN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035815 biolink:NamedThing paracardial fat tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030024 biolink:NamedThing neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities tmpaxzxjjyw_mondo_relaxed.owl NEDASB|NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISTIC FEATURES AND/OR STRUCTURAL BRAIN ABNORMALITIES|neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities OMIM:618859 owl:Class MONDO:0017765 biolink:NamedThing disorder of magnesium transport An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport. tmpaxzxjjyw_mondo_relaxed.owl inborn magnesium ion transport disorder|inborn error of magnesium ion transport|rare inborn error of magnesium ion transport UMLS:CN227207|ICD10:E83.4|Orphanet:309848 owl:Class MONDO:0000432 biolink:NamedThing lymphoplasmacytic lymphoma A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein. tmpaxzxjjyw_mondo_relaxed.owl lymphoplasmacytic lymphoma|lymphoma, plasmacytic|lymphoplasmacytic lymphoma (Waldenstrom macroglobulinemia)|lymphoma, lymphoplasmacytic, malignant|lymphoplasmacytoid lymphoma|Immunocytoma, lymphoplasmacytic type ICDO:9761/3|OMIM:153600|DOID:0050747|NCIT:C80307|ICD10:C88.0|MESH:D008258|UMLS:C0024419|OMIM:610430|ICDO:9671/3|UMLS:C0334633|NCIT:C3212|ONCOTREE:LPL|Orphanet:33226|ICD9:273.3 owl:Class HP:0031258 biolink:NamedThing Delirium A state of sudden and severe confusion. tmpaxzxjjyw_mondo_relaxed.owl 2017-08-12 16:00:36+00:00 peter human_phenotype owl:Class GO:0030100 biolink:NamedThing regulation of endocytosis Any process that modulates the frequency, rate or extent of endocytosis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001164 biolink:NamedThing greater curvature of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008961 biolink:NamedThing Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 4A|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A|Charcot-Marie-Tooth disease, type 4A|CMT4A|GDAP1 Charcot-Marie-Tooth disease type 4|Charcot Marie Tooth disease type 4A|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive|Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1|Charcot-Marie-Tooth neuropathy, type 4A OMIM:214400|GARD:0001252|Orphanet:99948|SCTID:715796006|ICD10:G60.0|DOID:0110185|MESH:C535419|UMLS:C1859198 https://rarediseases.info.nih.gov/diseases/1252/charcot-marie-tooth-disease-type-4a owl:Class MONDO:0034127 biolink:NamedThing IgA pemphigus tmpaxzxjjyw_mondo_relaxed.owl Orphanet:555905 owl:Class UBERON:0014452 biolink:NamedThing gustatory epithelium of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10856 biolink:NamedThing SI tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002760 biolink:NamedThing positive regulation of antimicrobial humoral response Any process that activates or increases the frequency, rate, or extent of an antimicrobial humoral response. tmpaxzxjjyw_mondo_relaxed.owl up regulation of antimicrobial humoral response|up-regulation of antimicrobial humoral response|upregulation of antimicrobial humoral response|stimulation of antimicrobial humoral response|activation of antimicrobial humoral response owl:Class MONDO:0009499 biolink:NamedThing Krabbe disease A lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms. tmpaxzxjjyw_mondo_relaxed.owl Krabbe disease|galactosylceramidase deficiency|Krabbe leukodystrophy|Krabbe's leukodystrophy|galactosylceramide lipidosis|galactocerebrosidase deficiency|diffuse globoid body sclerosis|GLD|beta galactocerebrosidase deficiency|globoid cell leukoencephalopathy|globoid cell leukodystrophy|Krabbe's disease|galactosylceramide Beta-galactosidase deficiency|GALC deficiency GARD:0006844|NCIT:C61254|MESH:D007965|MedDRA:10023492|SCTID:189979005|ICD10:E75.23|OMIM:245200|Orphanet:487|ICD10:E75.2|UMLS:C0023521|OMIM:611722|DOID:10587 Pathogenesis: rapid and nearly complete disappearance of myelin and myelin-forming cells--the oligodendrocytes in the central nervous system and the Schwann cells in the peripheral nervous system, reactive astroytic gliosis, and infiltration of the unique and often multinucleated macrophages ("globoid cells") that contain strongly periodic acid-Schiff (PAS)-positive materials. A normally insignificant but highly cytotoxic metabolite, galactosylsphingosine (psychosine), is also a substrate of galactosylceramidase and is considered to play a critical role in the pathogenesis[PMID:14572137] owl:Class MONDO:0016887 biolink:NamedThing partial deletion of the short arm of chromosome 5 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 5p|partial deletion of the short arm of chromosome type 5|partial deletion of chromosome 5p|partial monosomy of the short arm of chromosome 5 UMLS:C0010314|ICD10:Q93.4|Orphanet:261893 owl:Class MONDO:0016870 biolink:NamedThing partial deletion of chromosome 5 tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome type 5|partial monosomy of chromosome 5 Orphanet:261786 owl:Class GO:0045254 biolink:NamedThing pyruvate dehydrogenase complex Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). tmpaxzxjjyw_mondo_relaxed.owl dihydrolipoyl dehydrogenase complex|pyruvate dehydrogenase complex (lipoamide) owl:Class OBO:CHR_9606-chr9q31.1-q31.3 biolink:NamedThing 9q31.1-q31.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0016159 biolink:NamedThing Gemignani syndrome tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia-amyotrophy-deafness syndrome|spinocerebellar ataxia associated amyotrophy of the hands and sensorineural deafness Orphanet:2074|UMLS:C2931587|MESH:C537678|GARD:0002451 https://rarediseases.info.nih.gov/diseases/2451/gemignani-syndrome owl:Class MONDO:0013069 biolink:NamedThing autosomal recessive optic atrophy, OPA7 type tmpaxzxjjyw_mondo_relaxed.owl optic atrophy 7 with or without auditory neuropathy|OPA7 UMLS:C2751812|ICD10:H47.2|Orphanet:227976|OMIM:612989|DOID:0111437|MESH:C567833 owl:Class GO:1902644 biolink:NamedThing tertiary alcohol metabolic process The chemical reactions and pathways involving tertiary alcohol. tmpaxzxjjyw_mondo_relaxed.owl tertiary alcohol metabolism owl:Class GO:0097503 biolink:NamedThing sialylation The covalent attachment of sialic acid to a substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043412 biolink:NamedThing macromolecule modification The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5285 biolink:NamedThing HTOR tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002535 biolink:NamedThing epithelial cell of cervix An epithelial cell of the cervix. tmpaxzxjjyw_mondo_relaxed.owl cervical canal epithelial cell|cervix of uterus epithelial cell|epithelial cell of cervical canal of uterus|epithelial cell of neck of uterus|uterine cervix epithelial cell|epithelial cell of cervix of uterus|cervical canal of uterus epithelial cell|cervix epithelial cell|epithelial cell of uterine cervix|neck of uterus epithelial cell|epithelial cell of cervical canal tmeehan 2011-02-24T08:20:08Z cell owl:Class MONDO:0030909 biolink:NamedThing intellectual disability, X-linked, syndromic, Houge type tmpaxzxjjyw_mondo_relaxed.owl MRXSHG|mental retardation, X-linked, syndromic, Houge type|mental retardation, X-linked, syndromic, HOUGE type|intellectual disability, X-linked, syndromic, Houge type|intellectual disability, X-linked, syndromic, HOUGE type|syndromic X-linked mental retardation Hough type|syndromic X-linked intellectual disability Hough type UMLS:CN679647|OMIM:301008|DOID:0080242 owl:Class MONDO:0002554 biolink:NamedThing sympathetic neurilemmoma A benign tumor derived from schwann cells of the peripheral sympathetic nervous system, including the sympathetic plexus. tmpaxzxjjyw_mondo_relaxed.owl sympathetic schwannoma NCIT:C5421|UMLS:C1336543|DOID:3201 owl:Class MONDO:0002366 biolink:NamedThing autonomic nervous system neoplasm Benign and malignant neoplasms which arise from or directly involve the central or peripheral elements of the autonomic nervous system. tmpaxzxjjyw_mondo_relaxed.owl autonomic nervous system neoplasm (disease)|neoplasm of autonomic nervous system|autonomic nervous system neoplasm|tumor of the autonomic nervous system|autonomic nervous system neoplasms|tumor of autonomic nervous system|autonomic nervous system tumor|neoplasm of the autonomic nervous system UMLS:C1332356|NCIT:C5112|DOID:2621 owl:Class MONDO:0001266 biolink:NamedThing erysipelas An infection of the upper layers of the skin caused by species of streptococcus. Erysipelas results in a fiery red rash with raised edges that can easily be distinguished from the skin around it. The affected skin may be warm to the touch. tmpaxzxjjyw_mondo_relaxed.owl MESH:D004886|SCTID:44653001|GARD:0006370|ICD10:A46|ICD9:035|EFO:1001462|HP:0001055|DOID:11330|UMLS:C0014733 The most common cause is group A streptococcal bacteria, especially Streptococcus pyogenes https://rarediseases.info.nih.gov/diseases/6370/erysipelas owl:Class NCBITaxon:1717 biolink:NamedThing Corynebacterium diphtheriae tmpaxzxjjyw_mondo_relaxed.owl Bacterium diphtheriae|Pacinia loeffleri|Bacillus diphtheriae|Microsporon diphtheriticum|Microsporon diphthericum|Mycobacterium diphtheriae PMID:7729671|GC_ID:11 ncbi_taxonomy owl:Class CHEBI:35107 biolink:NamedThing azane Saturated acyclic nitrogen hydrides having the general formula NnHn+2. tmpaxzxjjyw_mondo_relaxed.owl azanes owl:Class UBERON:0003609 biolink:NamedThing aorta elastic tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004564 biolink:NamedThing thyroid malformation An anatomic abnormality of the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl thyroid gland malformation DOID:8433|NCIT:C27331 owl:Class MONDO:0003430 biolink:NamedThing prolactin producing pituitary tumor An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces prolactin. tmpaxzxjjyw_mondo_relaxed.owl prolactin producing neoplasm of pituitary|prolactin producing neoplasm of the pituitary gland|prolactin producing tumor of the pituitary gland|prolactin producing neoplasm of the pituitary|prolactin secreting tumor of pituitary gland|prolactin secreting pituitary neoplasm|prolactin producing pituitary tumor|prolactin secreting tumor of the pituitary gland|prolactin producing tumor of pituitary|prolactin producing pituitary neoplasm|malignant prolactinoma|prolactin secreting tumor of pituitary|prolactin producing pituitary tumour|prolactin secreting neoplasm of the pituitary gland|prolactin-producing pituitary gland neoplasm|prolactin secreting neoplasm of pituitary|prolactin producing tumor of the pituitary|malignant prolactin producing neoplasm of pituitary gland|PRL producing pituitary gland neoplasm|prolactin secreting pituitary gland neoplasm|prolactin producing neoplasm of pituitary gland|prolactin secreting tumor of the pituitary|prolactin secreting pituitary gland tumor|prolactin-producing pituitary gland tumor|prolactin secreting neoplasm of pituitary gland|prolactin producing pituitary gland tumor|prolactin producing tumor of pituitary gland|prolactin producing pituitary gland neoplasm|prolactin secreting neoplasm of the pituitary|prolactin secreting pituitary tumor UMLS:C0278863|DOID:5396|UMLS:C1334614|NCIT:C7910|NCIT:C5962 owl:Class HGNC:7797 biolink:NamedThing NFKBIA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022900 biolink:NamedThing athyreotic congenital hypothyroidism Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia) tmpaxzxjjyw_mondo_relaxed.owl cretinism athyreotic GARD:0001610 https://rarediseases.info.nih.gov/diseases/1610/cretinism-athyreotic owl:Class NCBITaxon:2732559 biolink:NamedThing Rowavirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732529 biolink:NamedThing Tectiliviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0007278 biolink:NamedThing presumptive sinus venosus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0098976 biolink:NamedThing excitatory chemical synaptic transmission Synaptic transmission that results in an excitatory postsynaptic potential. tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001882 biolink:NamedThing fruit based alcoholic beverage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010647 biolink:NamedThing spermatogenic failure, X-linked, 2 Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene. tmpaxzxjjyw_mondo_relaxed.owl azoospermia caused by mutation in TEX11|SPGFX2|spermatogenic failure, X-linked, 2|TEX11 azoospermia|spermatogenic failure, X-linked, type 2|Male infertility from defect in meiosis UMLS:C1839841|OMIM:309120|DOID:0070185 owl:Class MONDO:0016386 biolink:NamedThing hypogonadotropic hypogonadism-retinitis pigmentosa syndrome This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents. tmpaxzxjjyw_mondo_relaxed.owl Chang-Davidson-Carlson syndrome Orphanet:2235|UMLS:C2931722|MESH:C538075 owl:Class HGNC:6283 biolink:NamedThing KCNK9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11139 biolink:NamedThing SNCAIP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022653 biolink:NamedThing cardiomyopathy due to anthracyclines tmpaxzxjjyw_mondo_relaxed.owl GARD:0001107 https://rarediseases.info.nih.gov/diseases/1107/cardiomyopathy-due-to-anthracyclines owl:Class NCBITaxon:5752 biolink:NamedThing Heterolobosea tmpaxzxjjyw_mondo_relaxed.owl Lobosa GC_ID:1 ncbi_taxonomy owl:Class PO:0009013 biolink:NamedThing portion of meristem tissue A portion of plant tissue (PO:0009007) in which plant cells (PO:0009002) have retained their embryonic characteristics, or have reverted to them secondarily, and that divide to produce new cells that can undergo differentiation to form mature tissues, i.e. they have a capacity for morphogenesis and growth. tmpaxzxjjyw_mondo_relaxed.owl meristem (exact)|分裂組織 (Japanese, exact)|meristematic tissue (exact)|meristema (Spanish, exact) PO_GIT:472 plant_anatomy owl:Class PO:0009007 biolink:NamedThing portion of plant tissue A plant structure (PO:0009011) that consists predominantly of similarly specialized plant cells (PO:0009002) of one or more types. tmpaxzxjjyw_mondo_relaxed.owl 植物組織の一部 (Japanese, exact)|tissue (broad)|portion of tissue (broad)|porción de un tejido vegetal (Spanish, exact)|plant tissue (related) PO_GIT:59 A portion of plant tissue may contain one or several types of cells that are organized in a specific spatial arrangement into a structural unit (which includes a mass of callus) and may include an intercellular matrix. May include other types of isolated cells, such as idioblasts. plant_anatomy owl:Class HGNC:11226 biolink:NamedThing SPG11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002731 biolink:NamedThing cerebral hemisphere cancer A cancer that involves the cerebral hemisphere. tmpaxzxjjyw_mondo_relaxed.owl cancer of cerebral hemisphere|malignant neoplasm of cerebrum|malignant tumor of the cerebral hemispheres|malignant neoplasm of telencephalon|malignant tumor of cerebral hemispheres|malignant tumor of the cerebrum|malignant neoplasm of cerebral hemisphere|malignant tumor of cerebrum|malignant neoplasm of the cerebral hemispheres|malignant neoplasm of cerebral hemispheres|malignant neoplasm of the cerebrum|malignant cerebral neoplasm|tumor of cerebrum|malignant cerebral hemisphere neoplasm|malignant cerebral tumor|malignant cerebral hemispheric tumor|malignant cerebral hemispheric neoplasm|telencephalon cancer|cancer of telencephalon|cerebral cancer|cerebrum cancer|malignant telencephalon neoplasm DOID:368|NCIT:C4874|NCIT:C4577|SCTID:429033009|ICD9:191.8|SCTID:126953009 owl:Class MONDO:0009198 biolink:NamedThing congenital lethal erythroderma A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992. tmpaxzxjjyw_mondo_relaxed.owl lethal congenital erythroderma|congenital exfoliative erythroderma resistant to treatment|erythroderma, lethal congenital|erythroderma lethal congenital SCTID:722391005|GARD:0002192|ICD10:Q82.8|MESH:C535513|Orphanet:1954|OMIM:227090 https://rarediseases.info.nih.gov/diseases/2192/erythroderma-lethal-congenital owl:Class MONDO:0020860 biolink:NamedThing faucial diphtheria Infection of the fauces by Corynebacterium diphtheriae. tmpaxzxjjyw_mondo_relaxed.owl diphtheritic membrane|diphtheritic membranous angina|Faucial Diphtheria|Diphtheritic membranous angina|Faucial diphtheria|faucial diphtheria|Diphtheritic membrane NCIT:C34545|UMLS:C0012556|ICD9:032.0|SCTID:3419005 owl:Class MONDO:0020409 biolink:NamedThing univentricular heart with single atrio-ventricular valve tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99069|ICD10:Q20.4 owl:Class MONDO:0015451 biolink:NamedThing univentricular heart Univentricular heart (UVH) is a severe congenital cardiac malformation characterized by both atria related entirely or almost entirely to one functionally single ventricular chamber. The clinical manifestations include congestive heart failure, failure to thrive, cyanosis, hypoxemia and neurodevelopmental disabilities. tmpaxzxjjyw_mondo_relaxed.owl Double inlet left ventricle ICD9:746.89|Orphanet:1464|MedDRA:10045545|ICD10:Q20.4|SCTID:253283000 owl:Class MONDO:0007608 biolink:NamedThing desmoid tumor A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential. tmpaxzxjjyw_mondo_relaxed.owl deep fibromatosis|desmoid tumor caused by somatic mutation|desmoid tumor|desmoid disorder, hereditary|fibromatosis, familial infiltrative|desmoid fibromatosis|desmoid type fibromatosis|familial infiltrative fibromatosis|deep fibromatosis/desmoid tumor|desmoid-type fibromatosis|aggressive fibromatosis|desmoid disease, hereditary|desmoid/aggressive fibromatosis|FIF DOID:0080366|ONCOTREE:DES|NCIT:C9182|UMLS:C0079218|ICD10:D48.1|Orphanet:873|UMLS:C1851124|UMLS:CN072436|ICDO:8821/1|OMIM:135290|GARD:0001820 Editor note: consider separate class for inherited disease owl:Class NCBITaxon:2497576 biolink:NamedThing Ellioviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:1903488 biolink:NamedThing negative regulation of lactation Any process that stops, prevents or reduces the frequency, rate or extent of lactation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of lactation|down regulation of lactation|down-regulation of lactation|inhibition of lactation owl:Class MONDO:0800001 biolink:NamedThing delayed sleep phase syndrome, susceptibility to An inherited susceptibility or predisposition to developing delayed sleep phase syndrome. tmpaxzxjjyw_mondo_relaxed.owl OMIM:614163 http://orcid.org/0000-0001-8314-2140 https://github.com/monarch-initiative/mondo/issues/2863 owl:Class HP:0100491 biolink:NamedThing Abnormality of lower limb joint tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the joints of the lower limbs|Abnormality of lower limb joint UMLS:C4020971 doelkens 2010-12-14T10:58:11Z HP:0100239 human_phenotype owl:Class HP:0001367 biolink:NamedThing Abnormal joint morphology An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. tmpaxzxjjyw_mondo_relaxed.owl Anomaly of the joints|Joint disease|Abnormality of the joints|Abnormal shape of joints UMLS:C0022408|UMLS:C0240083|MSH:D007592|SNOMEDCT_US:399269003 human_phenotype owl:Class MONDO:0013043 biolink:NamedThing atypical hemolytic-uremic syndrome with C3 anomaly tmpaxzxjjyw_mondo_relaxed.owl D-HUS with C3 anomaly|atypical HUS with C3 anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 5|hemolytic uremic syndrome, atypical, susceptibility to, 5|susceptibility to atypical hemolytic uremic syndrome 5|Ahus, susceptibility to, 5|aHUS with C3 anomaly|hemolytic-uremic syndrome without diarrhea with C3 anomaly|AHUS5 ICD10:D58.8|OMIM:612925|Orphanet:93575|Orphanet:2134 owl:Class MONDO:0008180 biolink:NamedThing congenital velopharyngeal incompetence Failure of the soft palate to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (adenoidectomy; cleft palate) or an incompetent palatopharyngeal sphincter. It is characterized by hypernasal speech. tmpaxzxjjyw_mondo_relaxed.owl palatopharyngeal incompetence|velopharyngeal insufficiency|velopharyngeal incompetence Orphanet:2291|UMLS:C0042454|ICD10:J39.2|OMIM:167500|GARD:0005470|MESH:D014681 owl:Class MONDO:0016411 biolink:NamedThing hypothyroidism due to deficient transcription factors involved in pituitary development or function Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:226307|UMLS:CN201345|ICD10:E03.1 owl:Class MONDO:0016410 biolink:NamedThing central congenital hypothyroidism Central or secondary congenital hypothyroidism is a type of permanent congenital hypothyroidism characterized by permanent thyroid hormone deficiency that is present from birth and secondary to a disorder in the thyroid-stimulating hormone (TSH) - thyrotropin-releasing hormone (TRH) system. tmpaxzxjjyw_mondo_relaxed.owl secondary hypothyroidism|thyroid stimulating hormone deficiency|TSH deficiency|central hypothyroidism|hypothalamic-pituitary hypothyroidism|thyrotropin deficiency Orphanet:226298|GARD:0012280|ICD10:E03.1|NCIT:C113144 https://rarediseases.info.nih.gov/diseases/12280/central-congenital-hypothyroidism owl:Class MONDO:0100328 biolink:NamedThing microcephaly, epilepsy, and diabetes syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:614231 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0012778 biolink:NamedThing celiac disease, susceptibility to, 9 tmpaxzxjjyw_mondo_relaxed.owl CELIAC9|gluten-sensitive enteropathy, susceptibility to, 9|celiac disease, susceptibility to, 9 OMIM:612007 owl:Class MONDO:0018965 biolink:NamedThing Alport syndrome A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Alport deafness-nephropathy|hereditary nephritis|Alport's syndrome|Alport syndrome OMIM:203780|ICD10:Q87.81|DOID:10983|UMLS:C1567741|Orphanet:63|OMIM:104200|NCIT:C34842|OMIMPS:301050|MedDRA:10001843|OMIM:301050|ICD10:Q87.8 https://github.com/monarch-initiative/mondo/issues/3367 owl:Class NCBITaxon:2085 biolink:NamedThing Mycoplasmatales tmpaxzxjjyw_mondo_relaxed.owl Pleuropneumoniales|Mycoplasmas|Paramycetales|Mollicutales|Borrelomycetales|The Mycoplasmas PMID:16350067|GC_ID:4 NCBITaxon:2091 ncbi_taxonomy owl:Class UBERON:0003485 biolink:NamedThing vagina sebaceous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005398 biolink:NamedThing female reproductive gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001959 biolink:NamedThing regulation of cytokine-mediated signaling pathway Any process that modulates the frequency, rate or extent of the cytokine mediated signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl regulation of cytokine mediated signaling pathway|regulation of cytokine and chemokine mediated signaling pathway|regulation of cytokine mediated signalling pathway owl:Class HGNC:2592 biolink:NamedThing CYP11B2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004412 biolink:NamedThing proximal epiphysis of femur tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:777 biolink:NamedThing ZFHX3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015596 biolink:NamedThing non-herpetic acute limbic encephalitis Non-herpetic acute limbic encephalitis is a rare neuroinflammatory/neuroautoimmune disease characterized by an acute (or subacute) onset of disturbance of consciousness (occasionally presenting as convulsions) and high fever, associated with cerebral lesions (on magnetic resonance imaging) that are restricted to the limbic system (particularly the hippocampi and amygdalae), in the absence of viral, bacterial, fungal, paraneoplastic and other disorders. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:163924|SCTID:764998005|ICD10:G04.8 owl:Class CL:3000000 biolink:NamedThing ciliated epithelial cell of esophagus A ciliated epithelial cell of the esophagus. tmpaxzxjjyw_mondo_relaxed.owl CellBLAST 2019-02-09T16:40:30Z cell owl:Class MONDO:0009455 biolink:NamedThing immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes OMIM:242870|UMLS:C1855762|MESH:C565468 owl:Class UBERON:0009914 biolink:NamedThing renal lobule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009911 biolink:NamedThing lobule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021579 biolink:NamedThing neoplasm of femur A neoplasm (disease) that involves the femur. tmpaxzxjjyw_mondo_relaxed.owl tumor of femur|neoplasm of femur|femur neoplasm (disease)|femur tumor|femur neoplasm SCTID:126583006|ICD9:239.2 owl:Class GO:1903507 biolink:NamedThing negative regulation of nucleic acid-templated transcription Any process that stops, prevents or reduces the frequency, rate or extent of nucleic acid-templated transcription. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of nucleic acid-templated transcription|inhibition of nucleic acid-templated transcription|down regulation of nucleic acid-templated transcription|downregulation of nucleic acid-templated transcription owl:Class UBERON:0000487 biolink:NamedThing simple squamous epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013840 biolink:NamedThing encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. tmpaxzxjjyw_mondo_relaxed.owl coenzyme Q10 deficiency, primary, 5|coenzyme Q10 deficiency, primary, type 5|COQ10D5 DOID:0070242|OMIM:614654|ICD10:E88.8|UMLS:C3553374|Orphanet:319678 owl:Class HGNC:18481 biolink:NamedThing ATP6V0A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002141 biolink:NamedThing cutaneous undifferentiated pleomorphic sarcoma An undifferentiated pleomorphic sarcoma arising from the skin. It is characterized by the presence of spindle cells in a storiform pattern and histiocytes with abundant cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl zone of skin undifferentiated pleomorphic sarcoma|cutaneous malignant fibrous histiocytoma|malignant fibrous histiocytoma of the skin|cutaneous undifferentiated pleomorphic sarcoma|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous)|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "malignant fibrous histiocytoma")|malignant cutaneous fibrous histiocytoma|undifferentiated pleomorphic sarcoma of zone of skin|cutaneous unclassified pleomorphic sarcoma|malignant fibrous histiocytoma of skin|cutaneous unclassified pleomorphic sarcoma (formerly cutaneous "MFH")|malignant skin fibrous histiocytoma EFO:1000212|SCTID:404014008|DOID:1906|ICD9:171.9|UMLS:C1275254|NCIT:C5576 owl:Class MONDO:0013974 biolink:NamedThing ectodermal dysplasia 6, hair/nail type tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia 6, hair/nail type|ECTD6 UMLS:C3554111|Orphanet:69084|DOID:0111659|OMIM:614928 owl:Class MONDO:0019071 biolink:NamedThing pure hair and nail ectodermal dysplasia Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl PHNED|HNED|hair-nail ectodermal dysplasia DOID:0111655|OMIM:602032|Orphanet:69084|OMIM:614929|OMIM:614931|OMIM:614928 owl:Class MONDO:0021652 biolink:NamedThing diffuse type adenocarcinoma An adenocarcinoma characterized by the presence of a diffuse cellular infiltrate which is composed of poorly cohesive cells with minimal or no glandular formations. Representative example is the gastric diffuse adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl diffuse type carcinoma|diffuse type adenocarcinoma ICDO:8145/3|NCIT:C4127 owl:Class CHEBI:16336 biolink:NamedThing hyaluronic acid A mucopolysaccharide composed of N-acetylglucosamine and glucuronic acid subunits. It is found in the connective tissues of vertebrates. A principal constituent of the extracellular matrix (ECM), it mediates the growth and metastasis of tumour cells. tmpaxzxjjyw_mondo_relaxed.owl acido hialuronico|Hyaluronsaeure|hyaluronan|[beta-D-glucopyranuronosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)]n|acide hyaluronique|[beta-N-Acetyl-D-glucosaminyl(1,4)beta-D-glucuronosyl(1,3)]n|Hyaluronic acid owl:Class FOODON:03411142 biolink:NamedThing aquatic invertebrate animal (excluding shellfish) Aquatic animals other than fish and shellfish tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043233 biolink:NamedThing exfoliative dermatitis The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl erythroderma|Erythrodermas|exfoliative dermatitis|dermatitis exfoliativa|Dermatitides, exfoliative|exfoliative Dermatitides MESH:D003873|GARD:0006393|UMLS:C0011606|NCIT:C39646|SCTID:399992009 owl:Class MONDO:0022742 biolink:NamedThing occupational asthma Asthma attacks caused, triggered, or exacerbated by OCCUPATIONAL EXPOSURE. tmpaxzxjjyw_mondo_relaxed.owl Asthma, Occupational|Occupational Asthma|Occupational Asthmas|Occupational asthma|industrial asthma|Industrial asthma|occupational asthma|Asthmas, Occupational UMLS:C0264423|MESH:D059366|SCTID:57607007 owl:Class MONDO:0011103 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 3A Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 3A|deafness, autosomal dominant 3A|autosomal dominant nonsyndromic deafness caused by mutation in GJB2|deafness, autosomal dominant type 3A|autosomal dominant deafness 3A|autosomal dominant nonsyndromic deafness type 3A|neurosensory nonsyndromic dominant deafness 1|deafness, autosomal dominant nonsyndromic sensorineural 3|DFNA3|NSRD1|GJB2 autosomal dominant nonsyndromic deafness|DFNA3A MESH:C567277|GARD:0009933|DOID:0110564|ICD10:H90.3|OMIM:601544|UMLS:C2675750 Editor note: consider adding grouping for 3A/3B owl:Class HGNC:30578 biolink:NamedThing EXPH5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:02000101 biolink:NamedThing fibrous dust Dust which is composed of fibrous material. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0700118 biolink:NamedThing proximal chromosome 18q deletion syndrome Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18. tmpaxzxjjyw_mondo_relaxed.owl proximal 18q-|proximal 18q deletion|proximal 18q deletion syndrome GARD:0010866 http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0014285 biolink:NamedThing congenital dyserythropoietic anemia type type 1B tmpaxzxjjyw_mondo_relaxed.owl CDAN1B|congenital dyserythropoietic anemia type type 1B|CDA, type IB|anemia, congenital dyserythropoietic, type IB DOID:0111397|OMIM:615631|Orphanet:98869|UMLS:C3810185 owl:Class HGNC:21641 biolink:NamedThing TSPAN12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:493 biolink:NamedThing ANK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009247 biolink:NamedThing glycolipid biosynthetic process The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). tmpaxzxjjyw_mondo_relaxed.owl glycolipid synthesis|glycolipid formation|glycolipid biosynthesis|glycolipid anabolism owl:Class GO:0046467 biolink:NamedThing membrane lipid biosynthetic process The chemical reactions and pathways resulting in the formation of membrane lipids, any lipid found in or associated with a biological membrane. tmpaxzxjjyw_mondo_relaxed.owl membrane lipid formation|membrane lipid synthesis|membrane lipid anabolism|membrane lipid biosynthesis owl:Class MONDO:0019907 biolink:NamedThing ring chromosome 13 Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia. tmpaxzxjjyw_mondo_relaxed.owl Ring chromosome type 13|Ring chromosome 13 syndrome|Ring 13|chromosome 13 ring|R13 ICD10:Q93.2|SCTID:726723004|GARD:0006069|Orphanet:96176|MESH:C538303 https://rarediseases.info.nih.gov/diseases/6069/ring-chromosome-13 owl:Class CL:0000055 biolink:NamedThing non-terminally differentiated cell A precursor cell with a limited number of potential fates. tmpaxzxjjyw_mondo_relaxed.owl blast cell BTO:0000125|FMA:84782 define using PATO mulit-potent or oligopotent? cell owl:Class MONDO:0014027 biolink:NamedThing hypotrichosis 11 Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene. tmpaxzxjjyw_mondo_relaxed.owl hypotrichosis 11|HYPT11|SNRPE hypotrichosis|hypotrichosis type 11|hypotrichosis caused by mutation in SNRPE|hypt11 OMIM:615059|UMLS:C3554409|DOID:0110708|Orphanet:55654 owl:Class MONDO:0015383 biolink:NamedThing cervicofacial fibrochondroma tmpaxzxjjyw_mondo_relaxed.owl cervicofacial enchondroma Orphanet:141067 owl:Class MONDO:0003529 biolink:NamedThing acute pyelonephritis Sudden onset pyelonephritis. tmpaxzxjjyw_mondo_relaxed.owl pyelonephritis, acute SCTID:36689008|DOID:559|ICD9:590.1|ICD10:N10|NCIT:C123215|UMLS:C0520575 owl:Class MONDO:0008807 biolink:NamedThing apnea, central sleep tmpaxzxjjyw_mondo_relaxed.owl sleep apnea, lethal central|apnea, central sleep OMIM:207720|OMIM:107640|UMLS:C0520680 See https://github.com/monarch-initiative/mondo/issues/46 owl:Class MONDO:0032606 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 2 tmpaxzxjjyw_mondo_relaxed.owl MC1DN2|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 OMIM:618222 owl:Class GO:0034760 biolink:NamedThing negative regulation of iron ion transmembrane transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl inhibition of transmembrane iron ion transport|downregulation of transmembrane iron ion transport|down-regulation of transmembrane iron ion transport|negative regulation of transmembrane iron transport|negative regulation of iron ion membrane transport|negative regulation of transmembrane iron ion transport|down regulation of transmembrane iron ion transport owl:Class GO:0034759 biolink:NamedThing regulation of iron ion transmembrane transport Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl regulation of transmembrane iron ion transport|regulation of transmembrane Fe transport|regulation of iron ion membrane transport|regulation of transmembrane iron transport owl:Class MONDO:0014512 biolink:NamedThing PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal dominant type 31|intellectual disability, autosomal dominant 31|autosomal dominant mental retardation 31|PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation|autosomal dominant non-syndromic intellectual disability 31|mental retardation, autosomal dominant 31|intellectual disability, autosomal dominant type 31|autosomal dominant intellectual disability 31|MRD31 Orphanet:438216|OMIM:616158|UMLS:C4015357|UMLS:CN237609|ICD10:G40.4|DOID:0070061 owl:Class MONDO:0011453 biolink:NamedThing ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia tmpaxzxjjyw_mondo_relaxed.owl ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia UMLS:C1858422|OMIM:604380|MESH:C565783 owl:Class MONDO:0005126 biolink:NamedThing tuberculoid leprosy A principal or polar form of leprosy in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (leprosy, lepromatous), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others. tmpaxzxjjyw_mondo_relaxed.owl tuberculoid leprosy [type T]|type T leprosy|smooth leprosy ICD10:A30.1|MESH:D015441|ICD9:030.1|UMLS:C0023351|SCTID:70143003|DOID:1025|EFO:0001056 owl:Class NCIT:C12919 biolink:NamedThing Organ System tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011621 biolink:NamedThing acropectoral syndrome Acro-pectoral syndrome is characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. It has been described in 22 patients from a six-generation Turkish family. It is transmitted as an autosomal dominant trait and the causative gene is located at 7q36. tmpaxzxjjyw_mondo_relaxed.owl syndactyly, preaxial polydactyly and sternal deformity|ACRP syndrome|syndactyly, preaxial polydactyly, and sternal deformity|syndactyly-preaxial polydactyly-sternal deformity syndrome|ACRPS|acropectoral syndrome|Dundar Acropectoral syndrome|acro-pectoral syndrome Orphanet:85203|OMIM:605967|ICD10:Q74.0|SCTID:720412009|MESH:C535664|UMLS:C1853812|GARD:0008485 https://rarediseases.info.nih.gov/diseases/8485/acropectoral-syndrome owl:Class MONDO:0011061 biolink:NamedThing chorea, remitting, with nystagmus and cataract tmpaxzxjjyw_mondo_relaxed.owl chorea, remitting, with nystagmus and cataract|familial remitting chorea, nystagmus and cataracts|chorea, remitting with nystagmus and cataracts UMLS:C1832422|OMIM:601372|MESH:C535355|GARD:0009606 owl:Class NCBITaxon:85819 biolink:NamedThing Phthiraptera tmpaxzxjjyw_mondo_relaxed.owl lice GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016646 biolink:NamedThing autosomal dominant optic atrophy and peripheral neuropathy Autosomal dominant optic atrophy and peripheral neuropathy (ADOAPN) is a form of autosomal dominant optic atrophy (ADOA), characterized by progressive and isolated visual loss in the first decade of life, decreased reflexes in the lower limbs and a mild cerebellar stance. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:250932|UMLS:CN201872|ICD10:H47.2 owl:Class GO:0071305 biolink:NamedThing cellular response to vitamin D Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus. tmpaxzxjjyw_mondo_relaxed.owl cellular response to calciferol|cellular response to cholecalciferol|cellular response to ergocalciferol owl:Class GO:1901701 biolink:NamedThing cellular response to oxygen-containing compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an oxygen-containing compound stimulus. tmpaxzxjjyw_mondo_relaxed.owl cellular response to oxygen molecular entity owl:Class MONDO:0011096 biolink:NamedThing autosomal agammaglobulinemia Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea. tmpaxzxjjyw_mondo_relaxed.owl agammaglobulinemia, autosomal recessive, due to IGHM defect|agammaglobulinemia, non-Bruton type|AGM OMIM:616941|OMIM:613501|Orphanet:229717|GARD:0009640|MESH:C538056|Orphanet:33110|OMIM:613506|ICD10:D80.0|OMIM:613500|OMIM:612692|OMIM:613502|OMIM:615214|UMLS:C1832241|OMIM:601495 owl:Class CL:0000072 biolink:NamedThing non-branched duct epithelial cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0016046 biolink:NamedThing familial clubfoot with or without associated lower limb anomalies Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q66.8|Orphanet:199315|UMLS:CN200725|OMIM:119800|OMIM:613618 owl:Class CHEBI:83056 biolink:NamedThing Daphnia magna metabolite A Daphnia metabolite produced by the species Daphnia magna. tmpaxzxjjyw_mondo_relaxed.owl Daphnia magna metabolites owl:Class CHEBI:83057 biolink:NamedThing Daphnia metabolite A crustacean metabolite produced by the genus of small planktonic arthropods, Daphnia tmpaxzxjjyw_mondo_relaxed.owl Daphnia metabolites owl:Class MONDO:0044988 biolink:NamedThing hip region disorder A disease or disorder that involves the hip. tmpaxzxjjyw_mondo_relaxed.owl hip disease|disorder of hip region|disease of hip|hip disease or disorder|disorder of hip|disease or disorder of hip 2022-04-01 UMLS:C1290862|SCTID:118935006 Reason: grouping class. Term to consider: none owl:Class CHEBI:35472 biolink:NamedThing anti-inflammatory drug A substance that reduces or suppresses inflammation. tmpaxzxjjyw_mondo_relaxed.owl antiinflammatory agent|anti-inflammatory drugs|antiinflammatory drug|antiinflammatory drugs owl:Class MONDO:0004430 biolink:NamedThing penis mixed squamous cell carcinoma A squamous cell carcinoma that arises from the penis and is characterized by a mixture of morphologic patterns (e.g., high grade squamous cell carcinoma and verrucous carcinoma or warty-basaloid carcinoma). tmpaxzxjjyw_mondo_relaxed.owl mixed squamous cell carcinoma of the penis UMLS:C1513369|DOID:8009|NCIT:C39959 owl:Class MONDO:0019479 biolink:NamedThing histiocytic sarcoma An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. tmpaxzxjjyw_mondo_relaxed.owl histiocytic sarcoma|sarcoma, histiocytic, malignant SCTID:109988003|NCIT:C27349|ONCOTREE:HS|UMLS:C0334663|ICDO:9755/3|ICD10:C96.A|Orphanet:86896|ICD9:171.9|MESH:D054747|ICD10:C96.8 owl:Class MONDO:0020081 biolink:NamedThing macrophage or histiocytic tumor tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98288|UMLS:CN206983 owl:Class HP:0009887 biolink:NamedThing Abnormality of hair pigmentation An abnormality of hair pigmentation (color). tmpaxzxjjyw_mondo_relaxed.owl Abnormality of hair color|Abnormality of hair pigmentation|Abnormality of hair colour UMLS:C4024172 peter 2009-04-30T06:00:53Z human_phenotype owl:Class HP:0001595 biolink:NamedThing Abnormal hair morphology An abnormality of the hair. tmpaxzxjjyw_mondo_relaxed.owl Hair abnormality|Abnormality of the hair shaft|Abnormality of the hair UMLS:C0157733|UMLS:C2677869 human_phenotype owl:Class MONDO:0003821 biolink:NamedThing ovarian biphasic or triphasic teratoma A germ cell tumor that arises from the ovary and is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. tmpaxzxjjyw_mondo_relaxed.owl ovarian biphasic or triphasic teratoma NCIT:C39992|UMLS:C1518691|DOID:6232 owl:Class UBERON:0015172 biolink:NamedThing endometrial blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018823 biolink:NamedThing X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776924|Orphanet:480907 owl:Class GO:0045992 biolink:NamedThing negative regulation of embryonic development Any process that stops, prevents, or reduces the frequency, rate or extent of embryonic development. tmpaxzxjjyw_mondo_relaxed.owl downregulation of embryonic development|inhibition of embryonic development|down-regulation of embryonic development|down regulation of embryonic development owl:Class MONDO:0000756 biolink:NamedThing parameningeal embryonal rhabdomyosarcoma An embryonal rhabdomyosarcoma located in the parameningeal region. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060338 Editor note: check subclasses, does not appear to be complete owl:Class MONDO:0009993 biolink:NamedThing embryonal rhabdomyosarcoma A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. tmpaxzxjjyw_mondo_relaxed.owl spindle cell rhabdomyosarcomas (type of ERMS)|rhabdomyosarcoma chromosomal region|rhabdomyosarcoma, embryonal, 1|embryonal rhabdomyosarcoma|rhabdomyosarcoma 1|botryoid rhabdomyosarcoma (type of ERMS)|embryonal rhabdomyosarcoma (disease)|rhabdomyosarcoma embryonal|rhabdomyosarcoma, embryonal, type 1|ERMS|RMSE1 embryonal rhabdomyosarcoma (disease) Orphanet:99757|UMLS:C0206656|MedDRA:10065868|SCTID:404051002|NCIT:C8971|DOID:3246|OMIM:268210|Orphanet:780|ONCOTREE:ERMS|ICD10:C49.9|GARD:0004702|HP:0006743|EFO:0000437|ICDO:8910/3|ICD9:171.9 owl:Class MONDO:0025114 biolink:NamedThing protozoan infections, animal Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary. tmpaxzxjjyw_mondo_relaxed.owl animal protozoan infections|animal protozoan infection|infections, animal protozoan|protozoan infection, animal|infection, animal protozoan UMLS:C0033741|MESH:D011529 owl:Class MONDO:0003234 biolink:NamedThing optic nerve astrocytoma A astrocytoma (excluding glioblastoma) that involves the cranial nerve II. tmpaxzxjjyw_mondo_relaxed.owl cranial nerve II astrocytoma (excluding glioblastoma)|astrocytoma of the optic nerve|optic nerve astrocytoma|optic tract astrocytoma (excluding glioblastoma)|optic tract astrocytoma|astrocytic tumor of optic nerve|astrocytoma (excluding glioblastoma) of cranial nerve II|astrocytoma of optic nerve DOID:4991|NCIT:C6769|NCIT:C7533|UMLS:C1335114|UMLS:C1336971 owl:Class PATO:0001857 biolink:NamedThing concave A shape quality in a bearer by virtue of the bearer's curving inward. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0002005 biolink:NamedThing concavity Surface shape that refers to the inward or outward curvature of the surface. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0034756 biolink:NamedThing regulation of iron ion transport Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl regulation of iron transport|regulation of iron ion import|regulation of iron import|regulation of Fe transport owl:Class HP:0012639 biolink:NamedThing Abnormal nervous system morphology A structural anomaly of the nervous system. tmpaxzxjjyw_mondo_relaxed.owl Abnormal nervous system morphology|Abnormal shape of nervous system|Abnormality of nervous system morphology UMLS:C4022810|Fyler:4300|Fyler:4135 peter 2014-01-19T08:03:08Z human_phenotype owl:Class CL:0000948 biolink:NamedThing IgE memory B cell A class switched memory B cell that expresses IgE on the cell surface. tmpaxzxjjyw_mondo_relaxed.owl memory IgE B-lymphocyte|IgE memory B-cell|memory IgE B lymphocyte|memory IgE B cell|IgE memory B lymphocyte|IgE memory B-lymphocyte|memory IgE B-cell cell owl:Class GO:0006816 biolink:NamedThing calcium ion transport The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial sodium/calcium ion exchange|sodium:calcium exchange|calcium transport owl:Class UBERON:2007013 biolink:NamedThing preplacodal ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005497 biolink:NamedThing non-neural ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016772 biolink:NamedThing transferase activity, transferring phosphorus-containing groups Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013836 biolink:NamedThing familial steroid-resistant nephrotic syndrome with sensorineural deafness tmpaxzxjjyw_mondo_relaxed.owl coenzyme Q10 deficiency, primary, 6|coenzyme Q10 deficiency, primary, type 6|COQ10D6 DOID:0070243|OMIM:614650|UMLS:C3553349|ICD10:N04.8|Orphanet:280406 owl:Class MONDO:0012960 biolink:NamedThing intellectual disability, autosomal dominant 5 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal dominant type 5|SYNGAP1-related non-syndromic intellectual disability|mental retardation, autosomal dominant 5|autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1|SYNGAP1-related NSID|SYNGAP1 syndrome|intellectual disability, autosomal dominant type 5|SYNGAP1 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 5|autosomal dominant non-syndromic intellectual disability 5|SYNGAP1 Gene mutation linked to intellectual disability, schizophrenia and autism|autosomal dominant mental retardation 5|MRD5|autosomal dominant intellectual disability 5 UMLS:C2675473|DOID:0070035|GARD:0012558|MESH:C567234|OMIM:612621 owl:Class UBERON:0007243 biolink:NamedThing tunica media of vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018945 biolink:NamedThing McLeod neuroacanthocytosis syndrome A form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. tmpaxzxjjyw_mondo_relaxed.owl McLeod syndrome|X-linked McLeod syndrome|MLS|neuroacanthocytosis, McLeod type|McLeod phenotype|McLeod syndrome with chronic granulomatous disease|MCLDS ICD9:289.89|Orphanet:59306|HGNC:12811|ICD10:G10|MESH:C564038|SCTID:234411007|GARD:0010731|OMIM:300842 https://rarediseases.info.nih.gov/diseases/10731/mcleod-neuroacanthocytosis-syndrome owl:Class MONDO:0000169 biolink:NamedThing microphthalmia, isolated, with cataract tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:156850 owl:Class UBERON:0005017 biolink:NamedThing mucosa of lacrimal sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005043 biolink:NamedThing mucosa of nasolacrimal duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003510 biolink:NamedThing malignant testicular germ cell tumor A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor. tmpaxzxjjyw_mondo_relaxed.owl testicular cancer|testicular germ cell cancer|malignant germ cell neoplasm of testis|malignant testicular germ cell neoplasm|testicular cancer (excluding germ cell or trophoblastic cancer)|malignant testicular germ cell tumor|testicular malignant germ cell cancer|testicular ca. (no germ/tropho.)|malignant germ cell tumor of testis|malignant germ cell neoplasm of the testis|malignant germ cell tumor of the testis NCIT:C9063|SCTID:713646001|ICD9:186.9|DOID:5556|UMLS:C0855197 owl:Class MONDO:0016967 biolink:NamedThing partial duplication of the long arm of chromosome 17 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy 17q|partial duplication of the long arm of chromosome type 17|17q trisomy|trisomy 17q|partial duplication of chromosome 17q|17q duplication|Duplication 17q|chromosome 17q duplication|partial trisomy of chromosome 17q|partial trisomy of the long arm of chromosome 17 UMLS:CN035860|Orphanet:262968|GARD:0005320 owl:Class UBERON:0003118 biolink:NamedThing pharyngeal arch artery 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009438 biolink:NamedThing hypouricemia, hypercalcinuria, and decreased bone density tmpaxzxjjyw_mondo_relaxed.owl hypouricemia, hypercalcinuria, and decreased bone density Orphanet:94088|MESH:C565475|UMLS:C1855793|OMIM:242050 owl:Class UBERON:0005491 biolink:NamedThing glossopharyngeal neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008975 biolink:NamedThing otospondylomegaepiphyseal dysplasia An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. tmpaxzxjjyw_mondo_relaxed.owl otospondylomegaepiphyseal dysplasia|oto-spondylo-mega-epiphyseal dysplasia|Nance Sweeney chondrodysplasia|otospondylmegaepiphyseal dysplasia|Nance-Sweeney chondrodysplasia|OSMED|Insley-Astley syndrome|OSMED syndrome|chondrodystrophy with sensorineural deafness|Nance-Insley syndrome OMIM:215150|Orphanet:1427|ICD9:759.89|ICD10:Q77.7|DOID:0080026|GARD:0004130|OMIMPS:184840|SCTID:254060000 owl:Class HGNC:3661 biolink:NamedThing FGA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032877 biolink:NamedThing neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures|NEDBAS|NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES OMIM:618709 owl:Class MONDO:0023094 biolink:NamedThing exogenous ochronosis Exogenous ochronosis refers tothe bluish-black discoloration of certain tissues, such as the ear cartilage, the ocular (eye) tissue, and other body locations when it is due toexposure to various substances.It has been reported most commonly with topical application of hydroquinones to the skin. The discolorationmay becaused byan effect ontyrosinase(an enzyme located in melanocytes, which are skincells that produce pigment), or by inhibiting homogentisic acid oxidase, resulting in the accumulation and deposition of homogentisic acid (HGA) in cartilage. The discoloration is often permanent, but when exogenous ochronosis is caused by topical hydroquinones, carbon dioxide lasers and dermabrasion have been reported to be helpful. Exogenous ochronosis is different from hereditary ochronosis, which is an inherited condition that occurs with alkaptonuria. tmpaxzxjjyw_mondo_relaxed.owl ochronosis, acquired|ocular ochronosis|pseudo-ochronosis|exogenous ochronosis SCTID:410041002|MESH:C531762|ICD9:270.2|GARD:0010757 https://rarediseases.info.nih.gov/diseases/10757/exogenous-ochronosis owl:Class MONDO:0007450 biolink:NamedThing neurohypophyseal diabetes insipidus Hereditary central diabetes insipidus is a rare genetic subtype of central diabetes insipidus (CDI) characterized by polyuria and polydipsia due to a deficiency in vasopressin (AVP) synthesis. tmpaxzxjjyw_mondo_relaxed.owl pituitary gland diabetes insipidus|diabetes insipidus, cranial type|diabetes insipidus of pituitary gland|hereditary CDI|AVP deficiency|hereditary central diabetes insipidus|vasopressin defective diabetes insipidus|neurogenic diabetes insipidus|hereditary neurogenic diabetes insipidus|diabetes insipidus, neurohypophyseal|ADH deficiency|Arginine vasopressin deficiency|vasopressin deficiency|pituitary diabetes insipidus|antidiuretic hormone deficiency|diabetes insipidus, primary central DOID:12388|SCTID:45369008|NCIT:C84933|Orphanet:30925|OMIM:125700|ICD10:E23.2|SCTID:15771004|Orphanet:178029 owl:Class HGNC:5101 biolink:NamedThing HOXA11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016827 biolink:NamedThing myopathy-growth delay-intellectual disability-hypospadias syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN230273|Orphanet:2601|ICD10:G71.8 owl:Class MONDO:0017771 biolink:NamedThing Mayer-Rokitansky-Kuster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome describes a spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper 2/3 of the vagina in otherwise phenotypically normal females. It can be classified as either MRKH syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations). tmpaxzxjjyw_mondo_relaxed.owl Mayer-Rokitansky-Küster-Hauser syndrome|Mullerian aplasia/dysgenesis|MRKH syndrome|MRKH|Rokitansky syndrome Orphanet:3109|OMIM:601076|MedDRA:10065148|OMIM:277000|ICD10:Q51.8|NCIT:C124853 owl:Class MONDO:0004552 biolink:NamedThing microinvasive cervical squamous cell carcinoma A cervical squamous cell carcinoma with minimal stromal invasion. The risk of lymph node metastasis is low. tmpaxzxjjyw_mondo_relaxed.owl early invasive cervical squamous cell carcinoma NCIT:C36094|DOID:8409|UMLS:C1333370 owl:Class MONDO:0006143 biolink:NamedThing cervical squamous cell carcinoma A squamous cell carcinoma arising from the cervical epithelium. It usually evolves from a precancerous cervical lesion. Increased numbers of sexual partners and human papillomavirus (HPV) infection are risk factors for cervical squamous cell carcinoma. The following histologic patterns have been described: conventional squamous cell carcinoma, papillary squamous cell carcinoma, transitional cell carcinoma, lymphoepithelioma-like carcinoma, verrucous carcinoma, condylomatous carcinoma and spindle cell carcinoma. Survival is most closely related to the stage of disease at the time of diagnosis. tmpaxzxjjyw_mondo_relaxed.owl cervix squamous cell carcinoma|squamous cell carcinoma of the uterine cervix|cervix uteri squamous cell carcinoma|cervical squamous cell carcinoma|squamous cell carcinoma of the cervix uteri|squamous cell carcinoma of the cervix|CESC|squamous cell carcinoma of cervix|cervical squamous cell cancer|squamous cell carcinoma of uterine cervix|squamous cell carcinoma of cervix uteri|squamous cervical cancer|uterine cervix squamous cell carcinoma ICD10:C53.0|ONCOTREE:CESC|UMLS:C0279671|EFO:1000172|Orphanet:213767|ICD10:C53.1|NCIT:C4028|SCTID:254886006|DOID:3744|ICD10:C53.8 owl:Class MONDO:0019025 biolink:NamedThing extracutaneous mastocytoma A localized tumor consisting of mature mast cells. (WHO, 2001) -- 2003 tmpaxzxjjyw_mondo_relaxed.owl extracutaneous mastocytoma ICD10:C96.2|UMLS:C0272202|SCTID:63175003|DOID:4659|EFO:1000932|ICDO:9740/1|NCIT:C7136|Orphanet:66662 owl:Class MONDO:0003079 biolink:NamedThing mastocytoma A localized tumor composed of sheets of mast cells without atypia. It includes the cutaneous mastocytoma which involves the dermis and subcutaneous tissue, and the extracutaneous mastocytoma. Most cases of extracutaneous mastocytoma have been reported in the lung. tmpaxzxjjyw_mondo_relaxed.owl mastocytoma ICDO:9740/1|NCIT:C9303|ICD9:238.5|UMLS:C0024897|SCTID:404171008 owl:Class MONDO:0005621 biolink:NamedThing vascular brain injury Damage to the blood vessels of the brain tmpaxzxjjyw_mondo_relaxed.owl trauma, cerebrovascular|injury, Brain Vascular|Brain Vascular injury|injury, Vascular Brain|Vascular trauma, Brain|Brain Vascular trauma|Vascular Brain injury|Brain injury, Vascular|trauma, Brain Vascular|Vascular injury, Brain|Vascular Traumas, Brain|Vascular Brain Injuries|injury, Vascular, Brain EFO:0006791|MESH:D020214 owl:Class MONDO:0043510 biolink:NamedThing brain injury Acute and chronic (see also brain INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and brain STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits. tmpaxzxjjyw_mondo_relaxed.owl brain Traumas|brain injury|brain trauma|injury of brain MESH:D001930 owl:Class MONDO:0020807 biolink:NamedThing ovarian sertoli-stromal cell tumor A sex cord-stromal tumor that arises from the ovary and is composed entirely of, or in various combinations of, Sertoli cells, Leydig cells, and fibroblast-like cells. tmpaxzxjjyw_mondo_relaxed.owl Ovarian Sertoli-Stromal Cell Tumor|Ovarian Sertoli-Stromal Tumor NCIT:C39966 owl:Class MONDO:0021657 biolink:NamedThing ovarian sex cord-stromal tumor A benign or malignant neoplasm that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. Representative examples include thecoma, fibroma, Sertoli cell tumor, and granulosa cell tumor. tmpaxzxjjyw_mondo_relaxed.owl ovarian Sex cord-stromal neoplasm|Sex cord-stromal neoplasm of the ovary|sex cord stromal tumor|Sex cord-stromal tumor of the ovary|ovarian sex cord tumor with annular tubules|Sex cord-stromal neoplasm of ovary|ovarian Sex cord-stromal tumor|Sex cord-stromal tumor of ovary|ovary sex cord-stromal tumor|sex cord-stromal tumor of ovary ONCOTREE:SCST|UMLS:C0600113|EFO:1000430|NCIT:C4862|DOID:0080369|GARD:0012285 owl:Class MONDO:0010203 biolink:NamedThing intellectual disability, Wolff type Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias. tmpaxzxjjyw_mondo_relaxed.owl WOLFF mental retardation syndrome|WOLFF intellectual disability syndrome|Wolff-Zimmermann syndrome Orphanet:3080|ICD10:Q87.0|UMLS:C1848439|MESH:C537448|OMIM:277990 owl:Class GO:0032024 biolink:NamedThing positive regulation of insulin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. tmpaxzxjjyw_mondo_relaxed.owl activation of insulin secretion|up regulation of insulin secretion|up-regulation of insulin secretion|stimulation of insulin secretion|upregulation of insulin secretion owl:Class GO:0050714 biolink:NamedThing positive regulation of protein secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. tmpaxzxjjyw_mondo_relaxed.owl stimulation of protein secretion|up regulation of protein secretion|activation of protein secretion|up-regulation of protein secretion|upregulation of protein secretion owl:Class MONDO:0015357 biolink:NamedThing secondary hypoparathyroidism due to impaired parathormon secretion tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242104|Orphanet:140286|ICD10:E20.8 owl:Class MONDO:0014847 biolink:NamedThing spermatogenic failure 15 Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene. tmpaxzxjjyw_mondo_relaxed.owl azoospermia caused by mutation in SYCE1|spermatogenic failure 15; SPGF15|spermatogenic failure type 15|SYCE1 azoospermia|spermatogenic failure 15|SPGF15 DOID:0070172|UMLS:C4310779|OMIM:616950 owl:Class MONDO:0006896 biolink:NamedThing peptic esophagitis Inflammation of the esophagus that is caused by the reflux of gastric juice with contents of the stomach and duodenum. tmpaxzxjjyw_mondo_relaxed.owl reflux esophagitis|peptic reflux disease|reflux oesophagitis|peptic esophagitis EFO:1001095|ICD9:530.11|MESH:D004942|UMLS:C0014869|SCTID:57643001|DOID:13976 owl:Class MONDO:0002112 biolink:NamedThing benign peritoneal mesothelioma A rare, benign neoplasm that arises from the peritoneum and is characterized by the presence of gland like structures. Cytologic atypia is absent. tmpaxzxjjyw_mondo_relaxed.owl mesothelioma of peritoneum|peritoneal adenomatoid tumor|peritoneum benign mesothelioma NCIT:C7354|NCIT:C7633|DOID:1789 owl:Class CHEBI:36093 biolink:NamedThing inorganic chloride tmpaxzxjjyw_mondo_relaxed.owl inorganic chloride salt|inorganic chloride salts|inorganic chlorides owl:Class HGNC:14294 biolink:NamedThing SHANK3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003762 biolink:NamedThing malignant leptomeningeal tumor A primary or metastatic malignant tumor involving the leptomeninges. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the leptomeninges|malignant tumor of leptomeninges|malignant tumor of the leptomeninges|malignant neoplasm of leptomeninx|malignant neoplasm of leptomeninges|cancer of leptomeninx|malignant leptomeninx neoplasm|malignant leptomeningeal tumor|malignant leptomeningeal neoplasm|leptomeningeal cancer|leptomeninx cancer NCIT:C8506|UMLS:C1334596|DOID:6086 owl:Class UBERON:0001232 biolink:NamedThing collecting duct of renal tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044314 biolink:NamedThing retinitis pigmentosa 78 tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 78|RP78 Orphanet:791|UMLS:C4479481|OMIM:617433 owl:Class UBERON:0012281 biolink:NamedThing perianal sebaceous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005179 biolink:NamedThing pelvic region element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009840 biolink:NamedThing Partington-Anderson syndrome tmpaxzxjjyw_mondo_relaxed.owl Partington-Anderson syndrome OMIM:260555|UMLS:CN202825|MESH:C536299|Orphanet:2829|UMLS:C1850075 owl:Class UBERON:0000011 biolink:NamedThing parasympathetic nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016826 biolink:NamedThing hydrolase activity, acting on acid sulfur-nitrogen bonds Catalysis of the hydrolysis of any acid sulfur-nitrogen bond. tmpaxzxjjyw_mondo_relaxed.owl hydrolase activity, acting on acid sulphur-nitrogen bonds owl:Class MONDO:0012880 biolink:NamedThing hypogonadotropic hypogonadism 5 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene. tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropic hypogonadism caused by mutation in CHD7|CHD7 hypogonadotropic hypogonadism|Kallmann syndrome 5|HH5|KAL5|hypogonadotropic hypogonadism 5 with or without anosmia UMLS:C3552553|GARD:0010773|DOID:0090084|ICD10:E23.0|OMIM:612370|MESH:C567220 https://rarediseases.info.nih.gov/diseases/10773/kallmann-syndrome-5 owl:Class MONDO:0018534 biolink:NamedThing squamous cell carcinoma of liver and intrahepatic biliary tract Squamous cell carcinoma of liver and intrahepatic biliary tract is an extremely rare, primary, malignant liver and biliray tract epithelial tumor originating in the intrahepatic bile duct epithelium histologically characterized by the presence of keratinization and/or intracellular bridges. Patients typically present abdominal pain in the right upper quadrant, jaundice, nausea, vomiting, anorexia, weight loss, fever and/or dyspepsia. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of liver and IBT ICD10:C22.1|ICD10:C22.0|Orphanet:424975|UMLS:CN242131 owl:Class NCBITaxon:190765 biolink:NamedThing Ochlerotatus tmpaxzxjjyw_mondo_relaxed.owl Ochlerotatus GC_ID:1|PMID:15264635 ncbi_taxonomy owl:Class NCBITaxon:1056966 biolink:NamedThing Aedini tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class PATO:0070026 biolink:NamedThing multipolar neuron morphology A cell morphology that inheres in neurons which possess a single axon and many dendrites and dendritic branches. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021569 biolink:NamedThing Emery-Dreifuss muscular dystrophy 2, autosomal dominant Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant|muscular dystrophy, limb-girdle, type 1B|EMD2|EDMD2|muscular dystrophy, proximal, type 1B|autosomal dominant limb-girdle muscular dystrophy type 1B|Emery-Dreifuss muscular dystrophy 2, autosomal dominant|Hauptmann-Thannhauser muscular dystrophy|benign scapuloperoneal muscular dystrophy with cardiomyopathy|limb-girdle muscular dystrophy due to lamin A/C deficiency|LGMD1B|proximal muscular dystrophy type 1B|LMNA autosomal dominant limb-girdle muscular dystrophy|Emery-Dreifuss muscular dystrophy, autosomal dominant|limb-girdle muscular dystrophy type 1B|autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA|muscular dystrophy, limb-girdle type 1B|scapuloilioperoneal atrophy with cardiopathy OMIM:159001|SCTID:240072005|MESH:C535898|DOID:0070247|NCIT:C126745|Orphanet:261|SCTID:718178006|UMLS:C2750035|OMIM:181350|UMLS:C1834653|ICD10:G71.0|Orphanet:264|ICD9:425.4|Orphanet:98853|DOID:0110301|UMLS:C0410190|GARD:0010230 https://rarediseases.info.nih.gov/diseases/10230/limb-girdle-muscular-dystrophy-type-1b owl:Class CHEBI:33608 biolink:NamedThing hydrogen molecular entity tmpaxzxjjyw_mondo_relaxed.owl hydrogen compounds|hydrogen molecular entities owl:Class CHEBI:33674 biolink:NamedThing s-block molecular entity An s-block molecular entity is a molecular entity containing one or more atoms of an s-block element. tmpaxzxjjyw_mondo_relaxed.owl s-block molecular entity|s-block compounds|s-block molecular entities owl:Class MONDO:0007943 biolink:NamedThing Nager acrofacial dysostosis Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects. tmpaxzxjjyw_mondo_relaxed.owl Nager syndrome|AFD, Nager type|Nager acrofacial dysostosis|preaxial acrodysostosis|acrofacial dysostosis 1, Nager type|mandibulofacial dysostosis, Treacher Collins type, with limb anomalies|preaxial acrofacial dysostosis|AFD|preaxial manibulofacial dysostosis|AFD1|mandibulofacial dysostosis with preaxial limb anomalies|split hand deformity-mandibulofacial dysostosis|NAFD|Nager acrofacial dysostosis syndrome ICD10:Q75.4|OMIM:154400|Orphanet:245|NCIT:C35795|SCTID:35520007|UMLS:C1332140|UMLS:C0265245|MESH:C538184|GARD:0000498|DOID:5768 https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis owl:Class MONDO:0020157 biolink:NamedThing syndromic palpebral coloboma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98566|UMLS:CN227802 owl:Class GO:0014063 biolink:NamedThing negative regulation of serotonin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of serotonin. tmpaxzxjjyw_mondo_relaxed.owl inhibition of serotonin secretion|down-regulation of serotonin secretion|down regulation of serotonin secretion|positive regulation of serotonin release|downregulation of serotonin secretion owl:Class MONDO:0008152 biolink:NamedThing multicentric carpo-tarsal osteolysis with or without nephropathy Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities. tmpaxzxjjyw_mondo_relaxed.owl osteolysis, hereditary, of carpal bones with or without nephropathy|MCTO|multicentric carpo-tarsal osteolysis with or without nephropathy|idiopathic multicentric osteolysis with or without nephropathy|multicentric osteolysis, autosomal dominant|multicentric osteolysis nephropathy|Carnevale canun Mendoza syndrome|multicentric carpotarsal osteolysis syndrome Orphanet:2774|SCTID:766992008|MESH:C567171|UMLS:C2674705|GARD:0013042|GARD:0003818|DOID:0111534|OMIM:166300 https://rarediseases.info.nih.gov/diseases/3818/multicentric-osteolysis-nephropathy owl:Class UBERON:0010000 biolink:NamedThing multicellular anatomical structure An anatomical structure that has more than one cell as a part. tmpaxzxjjyw_mondo_relaxed.owl multicellular structure owl:Class NCBITaxon:41283 biolink:NamedThing Chrysosporium parvum tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:40411 biolink:NamedThing Chrysosporium tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0060589 biolink:NamedThing nucleoside-triphosphatase regulator activity Binds to and modulates the activity of an NTPase. tmpaxzxjjyw_mondo_relaxed.owl NTPase regulator activity owl:Class UBERON:0004951 biolink:NamedThing submucosa of segmental bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000573 biolink:NamedThing recombinase activating gene 2 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. tmpaxzxjjyw_mondo_relaxed.owl recombinase activating gene 2 deficiency DOID:0060012 owl:Class CL:0000624 biolink:NamedThing CD4-positive, alpha-beta T cell A mature alpha-beta T cell that expresses an alpha-beta T cell receptor and the CD4 coreceptor. tmpaxzxjjyw_mondo_relaxed.owl CD4-positive, alpha-beta T lymphocyte|CD4-positive, alpha-beta T-cell|CD4-positive, alpha-beta T-lymphocyte cell owl:Class MONDO:0019650 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome with minimal change tmpaxzxjjyw_mondo_relaxed.owl steroid-sensitive MCNS ICD10:N04.0|UMLS:CN206522|Orphanet:93207 owl:Class MONDO:0030880 biolink:NamedThing mandibuloacral dysplasia progeroid syndrome tmpaxzxjjyw_mondo_relaxed.owl MDPS OMIM:619127 owl:Class MONDO:0013721 biolink:NamedThing complement component 4a deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene. tmpaxzxjjyw_mondo_relaxed.owl C4A classic complement early component deficiency|complement component 4a deficiency|classic complement early component deficiency caused by mutation in C4A|complement component 4A deficiency|C4A deficiency|C4AD OMIM:614380|DOID:0060297|MESH:C565167|ICD10:D84.1|UMLS:C3280642|Orphanet:169147 owl:Class GO:0002784 biolink:NamedThing regulation of antimicrobial peptide production Any process that modulates the frequency, rate, or extent of antimicrobial peptide production. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000757 biolink:NamedThing glucocorticoid-induced osteoporosis An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. tmpaxzxjjyw_mondo_relaxed.owl steroid-induced osteoporosis DOID:0060343 owl:Class MONDO:0024651 biolink:NamedThing corticosteroid-induced osteoporosis tmpaxzxjjyw_mondo_relaxed.owl osteoporosis caused by corticosteroid|osteoporosis due to corticosteroid ICD9:733.09|SCTID:390833005|UMLS:C1272167 owl:Class MONDO:0014193 biolink:NamedThing primary ciliary dyskinesia 23 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia 23 with or without situs inversus|primary ciliary dyskinesia caused by mutation in ARMC4|ARMC4 primary ciliary dyskinesia|ciliary dyskinesia, primary, 23, with or without situs inversus|ciliary dyskinesia, primary, type 23|primary ciliary dyskinesia type 23|CILD23|ciliary dyskinesia, primary, 23 OMIM:615451|Orphanet:244|DOID:0110609|UMLS:C3809548|ICD10:Q34.8 owl:Class UBERON:0039228 biolink:NamedThing sigmoid vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001638 biolink:NamedThing Cardiomyopathy A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. tmpaxzxjjyw_mondo_relaxed.owl Disease of the heart muscle Fyler:1840|SNOMEDCT_US:57809008|SNOMEDCT_US:85898001|UMLS:C0878544|MSH:D009202 human_phenotype owl:Class MONDO:0004851 biolink:NamedThing toxic myocarditis tmpaxzxjjyw_mondo_relaxed.owl DOID:9694|ICD9:422.93|UMLS:C0155691|SCTID:31993003 owl:Class MONDO:0002815 biolink:NamedThing acute myocarditis The sudden onset of inflammation of heart muscle with myocellular necrosis; this is generally secondary to an infectious cause, and patients often have a recent history of a flu-like illness. tmpaxzxjjyw_mondo_relaxed.owl myocarditis, acute NCIT:C35206|ICD9:422|DOID:3951|SCTID:46701001|ICD10:I40|ICD9:422.90|ICD9:422.99|ICD10:I40.9|UMLS:C0155686 owl:Class MONDO:0005380 biolink:NamedThing osteonecrosis A none disease characterized by death of bone tissue due to a lack of blood supply. tmpaxzxjjyw_mondo_relaxed.owl aseptic necrosis|bone necrosis|ischemic bone disease|osteonecrosis ICD9:733.4|ICD10:M87|DOID:10159|ICD9:733.49|ICD9:732.3|ICD9:733.44|MESH:D010020|NCIT:C34841|ICD10:M87.0|ICD9:733.43|SCTID:397758007|GARD:0012057|EFO:0004259|ICD10:M87.2|ICD9:733.41|SCTID:240196003|ICD10:M87.3|ICD10:M87.1|ICD10:M87.8|ICD9:733.42|Orphanet:399158|NCIT:C34880|DOID:0080008|ICD10:M87.9|NCIT:C35476 owl:Class MONDO:0007885 biolink:NamedThing Legg-Calve-Perthes disease A hip region disease that is characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. In a small percentage of cases, mutations in the COL2A1 gene were found to be responsible. tmpaxzxjjyw_mondo_relaxed.owl juvenile osteochond-hip/pelvis|juvenile osteochondrosis of hip and/or pelvis|osteochondritis of the capital femoral epiphysis|juvenile osteochondrosis of hip and pelvis|osteochondritis deformans|Legg-Calve-Perthes disease|Osteochondrosis of the capital femoral epiphysis|osteochondrosis of Legg-Calve-Perthes|aseptic necrosis of the capital femoral epiphysis|Legg-Calve-Perthes symptom|Lcp|LCPD|Calve - Perthes' disease|Perthes disease|Legg-CALVE-Perthes disease|Legg-Calve-Perthes syndrome|Legg-Perthes disease|Perthe's disease|Pseudocoxalgia|Legg-Calvé-Perthes disease|pseudocoxalgia|coxa plana Orphanet:2380|ICD10:M91.3|SCTID:15739006|NCIT:C34766|DOID:14415|ICD10:M91.1|MESH:D007873|UMLS:C0023234|ICD10:M91.2|MedDRA:10034735|GARD:0006874|OMIM:150600|EFO:0007341 https://rarediseases.info.nih.gov/diseases/6874/legg-calve-perthes-disease|https://github.com/monarch-initiative/mondo/issues/521 owl:Class NCBITaxon:506 biolink:NamedThing Alcaligenaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:80840 biolink:NamedThing Burkholderiales tmpaxzxjjyw_mondo_relaxed.owl Burkholderia/Oxalobacter/Ralstonia group PMID:16403855|GC_ID:11 ncbi_taxonomy owl:Class GO:0022890 biolink:NamedThing inorganic cation transmembrane transporter activity Enables the transfer of inorganic cations from one side of a membrane to the other. Inorganic cations are atoms or small molecules with a positive charge that do not contain carbon in covalent linkage. tmpaxzxjjyw_mondo_relaxed.owl divalent inorganic cation transmembrane transporter activity|monovalent inorganic cation transmembrane transporter activity|trivalent inorganic cation transmembrane transporter activity|di-, tri-valent inorganic cation transmembrane transporter activity owl:Class UBERON:8410056 biolink:NamedThing capillary of anorectum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0017261 biolink:NamedThing intertarsal sesamoid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044705 biolink:NamedThing paranasal sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid, frontal, maxillary, or sphenoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of the nasal cavity and sinuses|paranasal sinus epidermoid carcinoma|paranasal sinus squamous cell carcinoma|epidermoid carcinoma of paranasal sinus|squamous cell carcinoma of the paranasal sinus|epidermoid carcinoma of the paranasal sinus|squamous cell carcinoma of the nasal cavity and paranasal sinuses|squamous cell carcinoma of paranasal sinus NCIT:C8193|Orphanet:500464|UMLS:C0280334 owl:Class MONDO:0044724 biolink:NamedThing 3-methylglutaconic aciduria type 9 tmpaxzxjjyw_mondo_relaxed.owl 3-METHYLGLUTACONIC aciduria, type IX|MGA9|3-Methylglutaconic aciduria, type 9|3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|3-methylglutaconic acuduria type IX, MGCA9|3-methylglutaconic acuduria type IX|MGCA9 UMLS:CN510468|Orphanet:505216|OMIM:617698|DOID:0070002 owl:Class MONDO:0020248 biolink:NamedThing vitreoretinal degeneration tmpaxzxjjyw_mondo_relaxed.owl degenerative vitreoretinopathy Orphanet:98670|ICD10:H35.5|HP:0007964|SCTID:247182006|UMLS:C0344290|GARD:0005506 https://rarediseases.info.nih.gov/diseases/5506/vitreoretinal-degeneration owl:Class NCBITaxon:7387 biolink:NamedThing Oestridae tmpaxzxjjyw_mondo_relaxed.owl botflies|bot flies|warble flies GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43755 biolink:NamedThing Oestroidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020532 biolink:NamedThing spirillary rat-bite fever Spirillary rat-bite fever (RBF), also known as Sodoku (Japanese for so: rat and doku: poison), is caused by the gram-negative bacillus Spirillum minus and is transmitted to humans through the bites and scratches of rats. The disease is mostly present in Asia. tmpaxzxjjyw_mondo_relaxed.owl Spirillary fever|sodoku disease|spirillosis|sodoku ICD10:A25.0|MESH:D011906|SCTID:19044004|DOID:12096|Orphanet:99903|ICD9:026.0 owl:Class MONDO:0006941 biolink:NamedThing rat-bite fever An infectious disease that is caused transmitted by the bite of a rat. Two species of bacteria can cause the infection: Streptobacillus moniliformis and Spirillum minus. tmpaxzxjjyw_mondo_relaxed.owl rat bite fever|spirillosis|Streptobacillosis NCIT:C34971|SCTID:1685005|MESH:D011906|ICD10:A25.9|ICD10:A25.1|MedDRA:10037904|EFO:1001144|ICD9:026.9|UMLS:C0034686|GARD:0009557|ICD10:A25.0|Orphanet:31205 https://rarediseases.info.nih.gov/diseases/9557/rat-bite-fever owl:Class MONDO:0019771 biolink:NamedThing oromandibular dystonia Oromandibular dystonia (OMD) is a form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393607|ICD10:G24.4|DOID:0050843|Orphanet:93958 owl:Class MONDO:0004264 biolink:NamedThing acute gonococcal endometritis tmpaxzxjjyw_mondo_relaxed.owl gonococcal endometritis|uterus - acute gonorrhoea|gonococcal endometritis (acute)|acute gonorrhea of uterus ICD9:098.16|DOID:7527|SCTID:65295003|UMLS:C0341829|UMLS:C0153196 owl:Class MONDO:0004265 biolink:NamedThing acute endometritis An acute, usually bacterial infection affecting the endometrium. It is characterized by the presence of neutrophils or microabscesses in the endometrial glands. Symptoms include fever, lower abdominal pain, and vaginal discharge. tmpaxzxjjyw_mondo_relaxed.owl endometritis, acute SCTID:67667007|NCIT:C27022|UMLS:C0238103|ICD9:615.0|DOID:7528 owl:Class MONDO:0021360 biolink:NamedThing tumor of parathyroid gland A neoplasm (disease) that involves the parathyroid gland. tmpaxzxjjyw_mondo_relaxed.owl parathyroid gland tumor|neoplasm of parathyroid|parathyroid gland neoplasm|parathyroid gland neoplasm (disease)|parathyroid tumor|tumor of the parathyroid gland|tumor of parathyroid|tumor of parathyroid gland|tumor of the parathyroid|neoplasm of the parathyroid|neoplasm of parathyroid gland|neoplasm of the parathyroid gland|parathyroid neoplasm ICD9:239.7|NCIT:C3313|SCTID:127020005 owl:Class HGNC:130 biolink:NamedThing ACTA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013875 biolink:NamedThing 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene. tmpaxzxjjyw_mondo_relaxed.owl 3-methylglutaconic aciduria type VI|3-MGCA type IV (formerly)|3-methylglutaconic aciduria type 6|3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome|MGCA6|3-MGCA-4 (formerly)|3-methylglutaconic aciduria caused by mutation in SERAC1|3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome|3-Methylglutaconic aciduria, type 6|MEGDEL syndrome|MEGDEL|SERAC1 defect|SERAC1 3-methylglutaconic aciduria|3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome OMIM:614739|Orphanet:352328|ICD10:E71.1|GARD:0012963|DOID:0110001|SCTID:711409002|UMLS:C3553597 Present because it is in the OMIM series. owl:Class MONDO:0014145 biolink:NamedThing Leber congenital amaurosis 17 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene. tmpaxzxjjyw_mondo_relaxed.owl Leber congenital amaurosis 17|Leber congenital amaurosis caused by mutation in GDF6|Leber congenital amaurosis type 17|GDF6 Leber congenital amaurosis|LCA17 UMLS:C3715164|DOID:0110217|OMIM:615360|ICD10:H35.5 owl:Class MONDO:0020040 biolink:NamedThing 46,XY disorder of sex development Differences of sex development in individuals with 46,XY karyotype. tmpaxzxjjyw_mondo_relaxed.owl 46, XY DSD|46, XY female|46,XY disorders of Sex development|XY female|46,XY DSD|46,XY differences of Sex development|46, XY disorders of sexual development NCIT:C127171|UMLS:C2751824|SCTID:8234004|GARD:0008538|MESH:D058490|Orphanet:98085 owl:Class MONDO:0016880 biolink:NamedThing partial deletion of chromosome 18 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 18|partial deletion of chromosome type 18 ICD10:Q93.5|Orphanet:261836 owl:Class MONDO:0018866 biolink:NamedThing Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis. tmpaxzxjjyw_mondo_relaxed.owl Aicardi Goutieres syndrome|AGS|encephalopathy with basal ganglia calcification|pseudotoxoplasmosis syndrome|Aicardi-Goutières syndrome|encephalopathy, familial infantile, with calcification of basal ganglia and chronic cerebrospinal fluid lymphocytosis|Cree encephalitis|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid SCTID:230312006|DOID:0050629|OMIM:615010|GARD:0000575|MESH:C535607|OMIM:225750|ICD10:G31.8|OMIM:114100|OMIM:612952|ICD9:333.0|OMIM:615846|Orphanet:51|OMIM:610181|OMIM:610329|OMIM:610333|OMIMPS:225750 owl:Class MONDO:0003095 biolink:NamedThing laryngeal mucoepidermoid carcinoma A rare mucoepidermoid carcinoma of the larynx. It usually arises from the supraglottic area. Hoarseness and dysphagia are the presenting symptoms. tmpaxzxjjyw_mondo_relaxed.owl laryngeal throat mucoepidermoid cancer|mucoepidermoid carcinoma of the larynx|larynx mucoepidermoid carcinoma|laryngeal mucoepidermoid carcinoma|mucoepidermoid carcinoma of larynx NCIT:C9463|UMLS:C1334373|DOID:4688 owl:Class HGNC:24671 biolink:NamedThing FLAD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017489 biolink:NamedThing ulnar hemimelia, unilateral tmpaxzxjjyw_mondo_relaxed.owl ulnar longitudinal meromelia, unilateral Orphanet:295075|ICD10:Q71.5 owl:Class MONDO:0019670 biolink:NamedThing ulnar hemimelia Ulnar hemimelia is a congenital ulnar deficiency of the forearm characterized by complete or partial absence of the ulna bone. tmpaxzxjjyw_mondo_relaxed.owl ulnar longitudinal meromelia|congenital longitudinal deficiency of the ulna|ulnar clubhand Orphanet:93320|SCTID:21893008|ICD9:755.59|ICD10:Q71.5 owl:Class UBERON:0005044 biolink:NamedThing mucosa of pharyngotympanic tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18540 biolink:NamedThing CPT1C tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002708 biolink:NamedThing positive regulation of lymphocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of lymphocyte mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of lymphocyte mediated immunity|up regulation of lymphocyte mediated immunity|stimulation of lymphocyte mediated immunity|activation of lymphocyte mediated immunity|upregulation of lymphocyte mediated immunity owl:Class HGNC:15964 biolink:NamedThing DAZ2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015768 biolink:NamedThing trisomy 5p Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl Duplication of the short arm of chromosome 5|5p duplication|5p trisomy|partial trisomy 5p|trisomy type 5p|chromosome 5p duplication|Duplication 5p|trisomy of the short arm of chromosome 5 Orphanet:1742|GARD:0006093|ICD10:Q92.2 owl:Class MONDO:0022011 biolink:NamedThing bobble-head doll syndrome Bobble-head doll syndrome (BHDS) is a rare neurological condition thatis typically first seen in childhood. The signs and symptoms of BHDS includecharacteristic up and downhead movements that increase during walking and excitement and decrease during concentration.Although the specific cause of this condition is unknown, BHDS is often seen with cysts in the third ventricle of the brain that alsocause hydrocephalus (water on the brain). Treatment for BHDS may involve surgical removal of the cyst causing the condition or using a shunt to drain excess water on the brain. tmpaxzxjjyw_mondo_relaxed.owl bobble head doll syndrome|BHDS GARD:0009731|MESH:C536241 https://rarediseases.info.nih.gov/diseases/9731/bobble-head-doll-syndrome owl:Class MONDO:0005807 biolink:NamedThing idiopathic CD4-positive T-lymphocytopenia A rare immunodeficiency syndrome characterized by the decrease of the CD4-positive lymphocytes below 300 per cubic millimeter in the absence of identifiable immunodeficiency causes. Patients with this syndrome are at an increased risk of opportunistic infections. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206744|DOID:3109|MESH:D018344|EFO:0007322|NCIT:C84780 owl:Class MONDO:0003783 biolink:NamedThing lymphopenia Reduction in the number of lymphocytes. tmpaxzxjjyw_mondo_relaxed.owl lymphopenia|lymphopenia (disease)|lymphocytopenia lymphopenia (disease) DOID:614|SCTID:48813009|ICD9:288.8|MESH:D008231|UMLS:C0024312|ICD10:D72.810|ICD9:288.51|HP:0001888 owl:Class UBERON:0004203 biolink:NamedThing cortical collecting duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010047 biolink:NamedThing oral gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005278 biolink:NamedThing serous adenocarcinoma An adenocarcinoma that is characterized by the presence of papillary patterns and cellular budding. Psammoma bodies may be present. Representative examples include cervical serous adenocarcinoma, endometrial serous adenocarcinoma, ovarian serous adenocarcinoma, and primary peritoneal serous adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl serous adenocarcinoma|serous carcinoma|serous cystadenocarcinoma, NOS (morphologic abnormality)|serous cystadenocarcinoma NCIT:C3778|EFO:0003825|DOID:3114|NCIT:C40101|UMLS:C0206701 owl:Class MONDO:0008706 biolink:NamedThing Ackerman syndrome Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers. tmpaxzxjjyw_mondo_relaxed.owl pyramidal molars, glaucoma, abnormal upper lip|Ackerman syndrome|juvenile glaucoma with unusual upper lip and dental roots|molar roots, pyramidal, with juvenile glaucoma and unusual upper lip|glaucoma, juvenile, with unusual upper lip and dental roots|Ackerman fused molar rooth syndrome|pyramidal molar-glaucoma-upper abnormal lip syndrome OMIM:200970|Orphanet:2561|SCTID:722280000|UMLS:C1860167|GARD:0000469|MESH:C538170|ICD10:K00.2 https://rarediseases.info.nih.gov/diseases/469/ackerman-syndrome owl:Class MONDO:0007636 biolink:NamedThing frontorhiny Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed. tmpaxzxjjyw_mondo_relaxed.owl frontonasal dysplasia 1|median Facial cleft syndrome|frontonasal malformation|FND1|ALX3-related frontonasal dysplasia|frontonasal dysplasia type 1|frontorhiny|frontonasal dysplasia|isolated median cleft face syndrome|isolated median cleft syndrome NCIT:C129028|GARD:0012642|Orphanet:391474|ICD10:Q75.8|OMIM:136760|UMLS:C1876203 owl:Class MONDO:0015583 biolink:NamedThing 2p21 microdeletion syndrome The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. tmpaxzxjjyw_mondo_relaxed.owl monosomy 2p21|2p21 deletion syndrome|Del(2)(p21) ICD10:Q93.5|SCTID:719652007|Orphanet:163693|UMLS:C4304537|UMLS:CN199952|OMIM:606407 https://github.com/monarch-initiative/mondo/issues/3777 owl:Class MONDO:0011786 biolink:NamedThing allergic rhinitis Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life. tmpaxzxjjyw_mondo_relaxed.owl Perenial allergic rhinitis|allergic rhinitis|seasonal allergic rhinitis|atopic rhinitis|allergic form of rhinitis|non-seasonal allergic rhinitis|pollenosis|perennial allergic rhinitis|Alrh OMIM:607154|ICD9:477|DOID:4481|SCTID:61582004|HP:0003193|EFO:0003956|ICD9:477.9|NCIT:C79532|EFO:0005854|ICD9:477.8|UMLS:C2607914 owl:Class MONDO:0006779 biolink:NamedThing heart aneurysm A localized bulging or dilatation in the muscle wall of a heart (myocardium), usually in the left ventricle. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are hematoma caused by myocardial rupture. tmpaxzxjjyw_mondo_relaxed.owl cardiac aneurysm EFO:1000959|MESH:D006322|SCTID:65340007|ICD9:414.10|ICD9:414.19|DOID:9768|ICD10:I25.3|MedDRA:10002350|UMLS:C0018789 owl:Class MONDO:0007806 biolink:NamedThing hypotrichosis 4 Any hypotrichosis in which the cause of the disease is a mutation in the HR gene. tmpaxzxjjyw_mondo_relaxed.owl hypotrichosis 4|HYPT4|hypotrichosis caused by mutation in HR|Marie Unna hereditary hypotrichosis 1|hypotrichosis type 4|Muhh1|hypt4|hypotrichosis, Marie Unna type, 1|HR hypotrichosis Orphanet:444|UMLS:C2750815|OMIM:146550|MESH:C567718|DOID:0110701 Editor note: consider merging into MUHH owl:Class FOODON:00001327 biolink:NamedThing pu dong Pu dong is fermented crab tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-1816-4260 owl:Class FOODON:00001785 biolink:NamedThing crab food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008071 biolink:NamedThing autosomal dominant progressive nephropathy with hypertension tmpaxzxjjyw_mondo_relaxed.owl renal failure, progressive, with hypertension|RFH1|nephropathy, familial|renal failure, adult-onset|nephritis, familial, without deafness or ocular defect ICD10:I15.1|MESH:C562889|UMLS:C0403443|UMLS:C3839782|ICD9:583.9|Orphanet:88659|SCTID:703310005|OMIM:161900 owl:Class MONDO:0013914 biolink:NamedThing hypogonadotropic hypogonadism 12 with or without anosmia A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21. tmpaxzxjjyw_mondo_relaxed.owl eunuchoidism, familial hypogonadotropic|familial hypogonadotrophic eunuchoidism|familial hypogonadotropic eunuchoidism|HH12|gonadotropin deficiency, familial idiopathic|FIGD|eunuchoidism familial hypogonadotropic|hypogonadotropic hypogonadism 12 with or without anosmia|gonadotropin deficiency familial idiopathic|familial idiopathic gonadotrpin deficiency UMLS:C1856897|GARD:0000276|DOID:0090072|MESH:C535764|OMIM:614841|ICD10:E23.0 https://rarediseases.info.nih.gov/diseases/276/eunuchoidism-familial-hypogonadotropic owl:Class GO:0019217 biolink:NamedThing regulation of fatty acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. tmpaxzxjjyw_mondo_relaxed.owl regulation of fatty acid metabolism owl:Class GO:0045577 biolink:NamedThing regulation of B cell differentiation Any process that modulates the frequency, rate or extent of B cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl regulation of B-cell differentiation|regulation of B lymphocyte differentiation|regulation of B-lymphocyte differentiation|regulation of B cell development owl:Class MONDO:0032645 biolink:NamedThing trichohepatoneurodevelopmental syndrome tmpaxzxjjyw_mondo_relaxed.owl TRICHOHEPATONEURODEVELOPMENTAL SYNDROME|THNS OMIM:618268 owl:Class NCIT:C147564 biolink:NamedThing Hormone Resistance tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071333 biolink:NamedThing cellular response to glucose stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000938 biolink:NamedThing gastric leiomyoma A rare benign smooth muscle neoplasm arising from the wall of the stomach. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. Unlike gastrointestinal stromal tumors, gastric leiomyomas are by definition negative for CD34 and CD117 (C-KIT). tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of the stomach|stomach leiomyoma|leiomyoma of stomach|gastric leiomyoma SCTID:276812001|UMLS:C0238440|DOID:10087|NCIT:C3876 owl:Class MONDO:0021449 biolink:NamedThing benign neoplasm of stomach A benign neoplasm that involves the stomach. tmpaxzxjjyw_mondo_relaxed.owl stomach tumors, benign|benign stomach neoplasms|stomach benign neoplasm|benign gastric tumors|benign tumor of stomach|benign tumor of the stomach|benign stomach tumors|benign tumors of the stomach|benign neoplasm of the stomach|benign gastric tumor|gastric tumors, benign|gastric neoplasms, benign|stomach neoplasms, benign|benign tumors of stomach|benign gastric neoplasm ICD9:211.1|SCTID:92411005|NCIT:C3599|UMLS:C0153943|ICD10:D13.1 owl:Class ENVO:01000271 biolink:NamedThing clastic sedimentary rock Clastic sedimentary rocks are sedimentary rocks that are composed of silicate minerals and rock fragments that were transported by moving fluids. Clastic rocks are composed largely of quartz, feldspar, rock (lithic) fragments, clay minerals, and mica; numerous other minerals may be present as accessories and may be important locally. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004604 biolink:NamedThing Hodgkin's lymphoma, lymphocytic-histiocytic predominance A subtype of classical Hodgkin lymphoma with scattered Hodgkin and Reed-Sternberg cells and a nodular or less often diffuse cellular background consisting of small lymphocytes and with an absence of neutrophils and eosinophils. (WHO, 2008) tmpaxzxjjyw_mondo_relaxed.owl classic Hodgkin lymphoma, lymphocyte-rich type|lymphocyte rich classical Hodgkin's disease|Hodgkin's disease, lymphocyte predominance|lymphocyte-rich classical Hodgkin's lymphoma|lymphocyte rich Hodgkin's lymphoma|LRCHL|Hodgkin lymphoma, lymphocytic-histiocytic predominance|lymphocyte rich Hodgkin's disease|Hodgkin's disease, lymphocyte predominance [obs]|lymphocyte rich Hodgkin lymphoma|lymphocyte-rich classical Hodgkin lymphoma|lymphocyte rich classical Hodgkin's lymphoma|lymphocyte rich classical Hodgkin lymphoma|Hodgkin lymphoma, lymphocyte-rich|lymphocyte-rich Classic Hodgkin lymphoma MESH:D006689|ICDO:9651/3|ICD9:201.4|SCTID:118607005|NCIT:C6913|Orphanet:98845|ONCOTREE:LRCHL|ICD10:C81.4|DOID:8543|MedDRA:10020231 owl:Class MONDO:0009348 biolink:NamedThing classic Hodgkin lymphoma Classical Hodgkin lymphoma (CHL) is a B-cell lymphoma characterized histologically by the presence of large mononuclear Hodgkin cells and multinucleated Reed-Sternberg (HRS) cells. tmpaxzxjjyw_mondo_relaxed.owl Chl|classic Hodgkin disease|Hodgkin disease|classical Hodgkin lymphoma|lymphoma, Hodgkin, classic|classical Hodgkin's lymphoma OMIM:236000|Orphanet:391|NCIT:C7164|ICD10:C81.7|ICD10:C81.0|ONCOTREE:CHL|ICD10:C81.1|ICD10:C81.4|UMLS:CN204952|ICD10:C81.3|OMIM:300221|OMIM:400021|ICD10:C81.2|ICD10:C81.9 owl:Class MONDO:0011745 biolink:NamedThing duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery tmpaxzxjjyw_mondo_relaxed.owl duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery|duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery GARD:0009227|UMLS:C1847196|OMIM:606894|MESH:C535722 https://rarediseases.info.nih.gov/diseases/9227/duodenojejunal-atresia-with-volvulus-absent-dorsal-mesentery-and-absent-superior-mesenteric-artery owl:Class GO:0051253 biolink:NamedThing negative regulation of RNA metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving RNA. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of RNA metabolism|downregulation of RNA metabolic process|inhibition of RNA metabolic process|down regulation of RNA metabolic process|down-regulation of RNA metabolic process owl:Class GO:0014051 biolink:NamedThing gamma-aminobutyric acid secretion The regulated release of gamma-aminobutyric acid by a cell or a tissue. The gamma-aminobutyric acid is the principal inhibitory neurotransmitter in the brain but is also found in several extraneural tissues. tmpaxzxjjyw_mondo_relaxed.owl GABA secretion owl:Class GO:0001961 biolink:NamedThing positive regulation of cytokine-mediated signaling pathway Any process that activates or increases the frequency, rate or extent of a cytokine mediated signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl stimulation of cytokine mediated signaling pathway|upregulation of cytokine mediated signaling pathway|positive regulation of cytokine mediated signalling pathway|positive regulation of cytokine mediated signaling pathway|positive regulation of cytokine and chemokine mediated signaling pathway|activation of cytokine mediated signaling pathway|up-regulation of cytokine mediated signaling pathway|up regulation of cytokine mediated signaling pathway owl:Class GO:0060760 biolink:NamedThing positive regulation of response to cytokine stimulus Any process that increases the rate, frequency, or extent of a response to cytokine stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003493 biolink:NamedThing thymus squamous cell carcinoma A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of Thymus|Thymus squamous cell carcinoma|thymus squamous cell carcinoma|epidermoid thymic carcinoma|squamous cell carcinoma of the Thymus|thymic squamous cell carcinoma NCIT:C6455|DOID:5530|UMLS:C1336082|EFO:1000579 owl:Class MONDO:0012319 biolink:NamedThing major affective disorder 3 tmpaxzxjjyw_mondo_relaxed.owl MAJOR affective disorder 3|bipolar affective disorder, early-onset|MAFD3|major affective disorder 3 UMLS:C1864994|OMIM:609633|MESH:C566501 owl:Class MONDO:0100230 biolink:NamedThing fatty acyl-CoA reductase 1 dysregulation A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids. tmpaxzxjjyw_mondo_relaxed.owl fatty acyl-CoA reductase 1 dysregulation|FAR1 dysregulation https://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100275 biolink:NamedThing fatty acyl-CoA reductase defects Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene. tmpaxzxjjyw_mondo_relaxed.owl fatty acyl-CoA reductase defects|FAR1 defect http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0008522 biolink:NamedThing nasal muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001577 biolink:NamedThing facial muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0400000 biolink:NamedThing small intestinal bacterial overgrowth The presence of excessive bacteria in the small intestine that can result from result from failure of the gastric acid barrier, failure of small intestinal motility, anatomic alterations, or impairment of systemic and local immunity. tmpaxzxjjyw_mondo_relaxed.owl SIBO owl:Class MONDO:0004914 biolink:NamedThing celiac artery stenosis from compression by median arcuate ligament of diaphragm A syndromic disease that involves the median arcuate ligament. tmpaxzxjjyw_mondo_relaxed.owl celiac artery compression syndrome|Marable's syndrome|median arcuate ligament syndromic disease|celiac access syndrome|median arcuate ligament syndrome|syndromic disease of median arcuate ligament|Harjola-Marable syndrome|celiac artery stenosis from compression by median arcuate ligament of diaphragm OMIM:116870|ICD9:447.4|UMLS:C1861783|SCTID:9250002|DOID:9892|ICD10:I77.4|GARD:0012308|MESH:C566151 https://github.com/monarch-initiative/mondo/issues/3691 owl:Class UBERON:0004427 biolink:NamedThing proximal epiphysis of first metatarsal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17091 biolink:NamedThing NCSTN tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0007754 biolink:NamedThing Macular dystrophy Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0730292 HP:0007919|HP:0007638|HP:0007798|HP:0007999|HP:0007914 human_phenotype owl:Class UBERON:0006955 biolink:NamedThing uterine epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10964 biolink:NamedThing SLC22A18 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003261 biolink:NamedThing thyroid primordium endoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000488 biolink:NamedThing atypical epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020500 biolink:NamedThing Marburg hemorrhagic fever Marburg hemorrhagic fever (MHF), caused by Marburg virus, is a severe viral hemorrhagic disease characterized by initial fever and malaise followed by gastrointestinal symptoms, bleeding, shock, and multi-organ system failure. tmpaxzxjjyw_mondo_relaxed.owl Marburg disease|Marburg virus disease|MHF|Green monkey disease MedDRA:10026822|MESH:D008379|GARD:0009444|Orphanet:99826|SCTID:77503002|ICD10:A98.3|ICD9:078.89|EFO:0007358|NCIT:C84883|DOID:4327|UMLS:C0024788 https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever owl:Class HGNC:15454 biolink:NamedThing SHOC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000844 biolink:NamedThing negative regulation of testosterone secretion Any process that stops, prevents or reduces the frequency, rate or extent of testosterone secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003404 biolink:NamedThing adult yolk sac tumor A yolk sac tumor that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl adult endodermal sinus neoplasm|adult endodermal sinus tumor|yolk Sac tumor|yolk sac tumor of adults|adult yolk Sac neoplasm|adult yolk Sac tumor NCIT:C27241|DOID:5348|UMLS:C1332221 owl:Class MONDO:0044878 biolink:NamedThing adult germ cell tumor A germ cell tumor that occurs during adulthood. tmpaxzxjjyw_mondo_relaxed.owl germ cell tumor|germ cell tumor of adults|Adult germ cell tumor NCIT:C114777 owl:Class GO:0030217 biolink:NamedThing T cell differentiation The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. tmpaxzxjjyw_mondo_relaxed.owl T lymphocyte differentiation|T-cell differentiation|T cell development|T-lymphocyte differentiation owl:Class NCBITaxon:6752 biolink:NamedThing Brachyura tmpaxzxjjyw_mondo_relaxed.owl true crabs|short-tailed crabs GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100421 biolink:NamedThing acute myeloid leukemia, GATA1 gene mutation Any acute myeloid leukemia that has the chromosomal anomaly GATA1 gene mutation. (A change in the nucleotide sequence of the GATA1 gene.) tmpaxzxjjyw_mondo_relaxed.owl AML, GATA Binding Protein 1 Gene Mutation|AML, GF1 Gene Mutation|AML, NFE1 Gene Mutation|AML, GATA1 Mutation|AML, NF-E1 Gene Mutation|AML, GF-1 Gene Mutation|AML, ERYF1 Gene Mutation|AML, GATA-1 Gene Mutation|AML, GATA1 gene mutation NCIT:C82340 owl:Class NCBITaxon:2732506 biolink:NamedThing Pisoniviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008689 biolink:NamedThing dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema tmpaxzxjjyw_mondo_relaxed.owl Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema|xerocytosis, hereditary|dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema|Desiccytosis, hereditary|pseudohyperkalemia, familial, 1, due to Red cell leak|DEHYDRATED hereditary stomatocytosis 1 with or without pseudohyperkalemia and/OR perinatal edema|DHS|pseudohyperkalemia Edinburgh|DHS1|Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/Or perinatal edema|DEHYDRATED hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema|dehydrated hereditary stomatocytosis GARD:0010676|Orphanet:3202|OMIM:194380 https://rarediseases.info.nih.gov/diseases/10676/dehydrated-hereditary-stomatocytosis-pseudohyperkalemia-and-perinatal-edema owl:Class MONDO:0001805 biolink:NamedThing female breast central part cancer tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of central portion of female breast|malignant neoplasm of central part of female breast DOID:13799|UMLS:C0153549|SCTID:188151006|ICD10:C50.11|ICD9:174.1 owl:Class MONDO:0014818 biolink:NamedThing nephrotic syndrome, type 13 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene. tmpaxzxjjyw_mondo_relaxed.owl NPHS13|nephrotic syndrome, type 13; NPHS13|NUP205 familial nephrotic syndrome|familial nephrotic syndrome caused by mutation in NUP205|nephrotic syndrome, type 13 OMIM:616893|UMLS:C4225165|DOID:0080381 owl:Class MONDO:0011472 biolink:NamedThing epidermolysis bullosa simplex due to plakophilin deficiency Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized superficial erosions and less commonly blistering. tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia skin fragility syndrome|McGrath syndrome|Mcgrath syndrome|ectodermal dysplasia - skin fragility syndrome|ectodermal dysplasia/skin fragility syndrome|ectodermal dysplasia-skin fragility syndrome MESH:C536183|OMIM:604536|Orphanet:158668|UMLS:C1858302|GARD:0009705|ICD10:Q81.0|SCTID:716699004 owl:Class HGNC:7908 biolink:NamedThing NPHS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020823 biolink:NamedThing infantile miliaria tmpaxzxjjyw_mondo_relaxed.owl SCTID:402824003 owl:Class NCBITaxon:39054 biolink:NamedThing Enterovirus A71 tmpaxzxjjyw_mondo_relaxed.owl EV71|Human enterovirus 71|enterovirus type 71|Human enterovirus type 71|Human enterovirus A71|EV-71|Enterovirus EV-A71|EV-A71|Enterovirus 71 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019405 biolink:NamedThing facial onset sensory and motor neuronopathy Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. tmpaxzxjjyw_mondo_relaxed.owl facial onset sensory and motor neuronopathy syndrome|FOSMN syndrome|facial onset sensorimotor neuronopathy syndrome ICD10:G60.0|Orphanet:85162|SCTID:723306004|GARD:0012036|UMLS:CN206118 https://rarediseases.info.nih.gov/diseases/12036/facial-onset-sensory-and-motor-neuronopathy owl:Class MONDO:0015805 biolink:NamedThing intestinal botulism A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism). tmpaxzxjjyw_mondo_relaxed.owl intestinal toxin-mediated botulism|intestinal colonization botulism|intestinal toxemia botulism SCTID:409563004|DOID:0050141|UMLS:C1443901|ICD10:A05.1|Orphanet:178481 owl:Class MONDO:0016468 biolink:NamedThing toxin-mediated infectious botulism Aform of botulism (see this term), a rare acquired neuromuscular junction disease, characterized by descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), produced in vivo leading to toxin-mediated infection. Infectious botulism includes wound botulism and intestinal toxemia botulism (infant botulism and adult intestinal botulism). tmpaxzxjjyw_mondo_relaxed.owl toxin-mediated infective botulism Orphanet:230800|ICD10:A05.1 owl:Class CL:0009022 biolink:NamedThing stromal cell of lamina propria of small intestine A stromal cell found in the lamina propria of the small intestine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060455 biolink:NamedThing X-linked congenital hemolytic anemia tmpaxzxjjyw_mondo_relaxed.owl hemolytic anemia, congenital, X-linked OMIM:301015 owl:Class MONDO:0011211 biolink:NamedThing axial spondylometaphyseal dysplasia Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion. tmpaxzxjjyw_mondo_relaxed.owl spondylometaphyseal dysplasia axial type|SmD axial|SmD, axial|axial SmD|SMDAX|spondylometaphyseal dysplasia, axial ICD10:Q77.8|UMLS:C1865695|OMIM:602271|MESH:C535795|GARD:0008720|Orphanet:168549 https://rarediseases.info.nih.gov/diseases/8720/axial-spondylometaphyseal-dysplasia owl:Class HP:0002239 biolink:NamedThing Gastrointestinal hemorrhage Hemorrhage affecting the gastrointestinal tract. tmpaxzxjjyw_mondo_relaxed.owl GI haemorrhage|Gastrointestinal haemorrhage|GI hemorrhage|Gastrointestinal bleeding MSH:D006471|UMLS:C0017181|SNOMEDCT_US:74474003 human_phenotype owl:Class MONDO:0012907 biolink:NamedThing blindness - scoliosis - arachnodactyly syndrome This syndrome associates progressive visual loss with scoliosis or kyphoscoliosis and arachnodactyly of the fingers and toes. tmpaxzxjjyw_mondo_relaxed.owl scoliosis, arachnodactyly, and blindness SCTID:717920004|Orphanet:171844|MESH:C567309|UMLS:C2676234|OMIM:612445 owl:Class GO:1904951 biolink:NamedThing positive regulation of establishment of protein localization Any process that activates or increases the frequency, rate or extent of establishment of protein localization. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of protein positioning|activation of protein positioning|up-regulation of protein positioning|up-regulation of establishment of protein localisation|positive regulation of protein recruitment|activation of establishment of protein localisation|upregulation of protein recruitment|activation of protein recruitment|up regulation of establishment of protein localization|up regulation of protein positioning|activation of establishment of protein localization|up regulation of protein recruitment|positive regulation of establishment of protein localisation|upregulation of establishment of protein localisation|up-regulation of establishment of protein localization|upregulation of establishment of protein localization|up-regulation of protein recruitment|upregulation of protein positioning|up regulation of establishment of protein localisation owl:Class GO:0070201 biolink:NamedThing regulation of establishment of protein localization Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location. tmpaxzxjjyw_mondo_relaxed.owl regulation of establishment of protein localisation owl:Class MONDO:0018142 biolink:NamedThing pyruvate carboxylase deficiency, severe neonatal type Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy. tmpaxzxjjyw_mondo_relaxed.owl pyruvate carboxylase deficiency type B UMLS:CN204539|Orphanet:353314|OMIM:266150|ICD10:E74.4 owl:Class MONDO:0009949 biolink:NamedThing pyruvate carboxylase deficiency disease Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients. tmpaxzxjjyw_mondo_relaxed.owl Leigh syndrome due to pyruvate carboxylase deficiency|pyruvate carboxylase deficiency disease|deficiency of pyruvic carboxylase|ataxia with lactic acidosis 2|Pc deficiency|Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis type 2|Leigh syndrome due to PC deficiency|pyruvate carboxylase deficiency|ataxia with lactic acidosis type II GARD:0007512|DOID:3651|UMLS:CN203409|MESH:D015324|SCTID:87694001|UMLS:C2931141|NCIT:C85040|OMIM:266150|Orphanet:3008|UMLS:C0034341|ICD9:277.89|ICD10:E74.4|EFO:1001142 owl:Class UBERON:0004269 biolink:NamedThing upper arm connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003573 biolink:NamedThing arm connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003821 biolink:NamedThing metapodium bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008909 biolink:NamedThing congenital disorder of glycosylation, type i/IIx tmpaxzxjjyw_mondo_relaxed.owl congenital disorder of glycosylation type I/IIX|CDG X|congenital disorder of glycosylation, type i/IIx|CDG-X UMLS:C0349655|OMIM:212067|MESH:C562844|GARD:0009840 https://rarediseases.info.nih.gov/diseases/9840/congenital-disorder-of-glycosylation-type-iiix owl:Class UBERON:0003715 biolink:NamedThing splanchnic nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13210 biolink:NamedThing ARL6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000047 biolink:NamedThing simple eye tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007712 biolink:NamedThing oculoauriculovertebral spectrum with radial defects Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported. tmpaxzxjjyw_mondo_relaxed.owl Oavs with radial defect|oculoauriculovertebral spectrum with radial defect|Moeschler Clarren syndrome|microsomia hemifacial radial defects|Moeschler-Clarren syndrome|hemifacial microsomia with radial defects|Goldenhar syndrome with ipsilateral radial defect|hemifacial microsomia-radial defects syndrome UMLS:C0265240|OMIM:141400|Orphanet:2549|SCTID:726722009|ICD10:Q75.8|GARD:0003653 owl:Class MONDO:0016499 biolink:NamedThing acute pandysautonomia Acute pandysautonomia is a rare variant of Guillain-Barré syndrome characterized by acute post-ganglionic sympathetic and parasympathetic failure presenting several weeks after acute infection with gastrointestinal symptoms (abdominal pain, vomiting, constipation, diarrhea, gastroparesis, ileus), orthostatic hypotension, erectile dysfunction, urinary frequency, urgency or retention, vasomotor instability with acrocyanosis and reduced salivation, lacrimation and sweating. tmpaxzxjjyw_mondo_relaxed.owl acute panautonomic neuropathy|acute panautonomic Guillain-BarrC) syndrome|acute panautonomic GBS|acute panautonomic Guillain-Barré syndrome SCTID:430042004|Orphanet:231457|ICD10:G61.0|UMLS:C2315246 owl:Class HGNC:28472 biolink:NamedThing TMEM43 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030300 biolink:NamedThing cardiomyopathy, dilated, 2D tmpaxzxjjyw_mondo_relaxed.owl CMD2D|cardiomyopathy, dilated, 2D OMIM:619371 owl:Class MONDO:0100111 biolink:NamedThing focal segmental glomerulosclerosis and neurodevelopmental syndrome A Mendelian diseases characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed. tmpaxzxjjyw_mondo_relaxed.owl FSGSNEDS OMIM:619428 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3530 owl:Class MONDO:0021493 biolink:NamedThing benign neoplasm of minor salivary gland A benign neoplasm that involves the minor salivary gland. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of minor salivary gland|benign minor salivary gland neoplasm|benign minor salivary gland tumor|benign neoplasm of the minor salivary gland|minor salivary gland benign neoplasm|benign tumor of the minor salivary gland NCIT:C4411|ICD9:210.4|UMLS:C0345615|SCTID:92220004 owl:Class MONDO:0100248 biolink:NamedThing rapidly progressive primary central nervous system vasculitis A subset of primary central nervous system vasculitis where disease is rapidly progressive after onset that is characterized by bilateral, multiple, large cerebral vessel lesions and multiple CNS infarctions. tmpaxzxjjyw_mondo_relaxed.owl rapidly progressive PCNSV owl:Class MONDO:0015374 biolink:NamedThing primary central nervous system vasculitis tmpaxzxjjyw_mondo_relaxed.owl primary vasculitis of the central nervous system|primary central nervous system vasculitis|PCNSV|isolated angiitis of the central nervous system|granulomatous angiitis of the central nervous system|primary angiitis of the central nervous system|primary CNS vasculitis|PACNS ICD10:I67.7|GARD:0008703|Orphanet:140989|MESH:C537295 https://rarediseases.info.nih.gov/diseases/8703/primary-angiitis-of-the-central-nervous-system owl:Class NCBITaxon:41705 biolink:NamedThing Protacanthopterygii tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1489388 biolink:NamedThing Euteleosteomorpha tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030105 biolink:NamedThing galactosemia 4 tmpaxzxjjyw_mondo_relaxed.owl galactosemia iv|GALACTOSEMIA IV|GALAC4|Galactose Mutarotase Deficiency OMIM:618881|Orphanet:570422 owl:Class HGNC:8063 biolink:NamedThing NUP155 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012357 biolink:NamedThing glaucoma 1, open angle, G Any open-angle glaucoma in which the cause of the disease is a mutation in the WDR36 gene. tmpaxzxjjyw_mondo_relaxed.owl GLC1G|glaucoma 1, open angle, G|open-angle glaucoma caused by mutation in WDR36|WDR36 open-angle glaucoma|glaucoma 1, open angle, type G UMLS:C1835933|OMIM:609887|MESH:C563692 owl:Class MONDO:0005338 biolink:NamedThing open-angle glaucoma Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. tmpaxzxjjyw_mondo_relaxed.owl pigmentary glaucoma|open angle glaucoma|primary open angle glaucoma|wide-angle glaucoma|POAG|glaucoma simplex|glaucoma, primary open angle OMIM:606657|OMIM:602429|ICD9:365.1|OMIM:609745|OMIM:613100|OMIM:137750|MESH:D005902|DOID:1067|OMIM:611276|OMIM:611274|OMIM:603383|OMIM:137760|OMIM:177700|OMIM:609887|OMIM:606689|SCTID:46168003|NCIT:C34641|SCTID:84494001|ICD10:H40.10|OMIM:608695|OMIM:601682|ICD9:365.10|OMIM:608696|ICD10:H40.13|OMIM:610535|UMLS:C0017612|ICD10:H40.1|ICD9:365.13|EFO:0004190 https://github.com/monarch-initiative/mondo/issues/2507 owl:Class UBERON:0004243 biolink:NamedThing prostate gland smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005996 biolink:NamedThing monosaccharide metabolic process The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. tmpaxzxjjyw_mondo_relaxed.owl monosaccharide metabolism owl:Class HGNC:1241 biolink:NamedThing C1QA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014920 biolink:NamedThing patterned macular dystrophy 3 Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene. tmpaxzxjjyw_mondo_relaxed.owl MCRPE|patterned macular dystrophy caused by mutation in MAPKAPK3|MDPT3|Martinique crinkled retinal pigment epitheliopathy|macular dystrophy, patterned, type 3|patterned macular dystrophy type 3|macular dystrophy, patterned, 3|MAPKAPK3 patterned macular dystrophy ICD10:H35.5|Orphanet:466718|DOID:0060865|OMIM:617111|UMLS:C4310713 owl:Class MONDO:0020381 biolink:NamedThing patterned macular dystrophy A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. tmpaxzxjjyw_mondo_relaxed.owl patterned dystrophy of retinal pigment epithelium|macular dystrophy, patterned UMLS:C4511237|ICD10:H35.5|SCTID:725590001|OMIM:608970|DOID:0060863|UMLS:CN207254|OMIM:169150|OMIMPS:169150|OMIM:610125 owl:Class GO:0071322 biolink:NamedThing cellular response to carbohydrate stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007540 biolink:NamedThing multiple endocrine neoplasia type 1 Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN, a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients. tmpaxzxjjyw_mondo_relaxed.owl multiple endocrine neoplasia caused by mutation in MEN1|multiple endocrine neoplasia type 1 syndrome|MEA 1|MEN1 syndrome|MEN1 multiple endocrine neoplasia|men type I|men type 1|multiple endocrine neoplasia, type I|multiple endocrine neoplasia, type 1|multiple endocrine adenomatosis, type I|MEA type 1|multiple endocrine adenomatosis type 1|MEN1 somatic mutations|endocrine adenomatosis multiple|multiple endocrine neoplasia type 1|MEA type I|endocrine adenomatosis, multiple|Wermer's syndrome|multiple endocrine adenomatosis type I|men 1|multiple endocrine adenomatosis|MEN1|multiple endocrine neoplasia type I|Wermer syndrome Orphanet:652|OMIM:131100|ICD9:237.4|MESH:D018761|GARD:0003829|MedDRA:10028190|SCTID:30664006|ICD9:258.01|ICD10:D44.8|DOID:10017|ICD10:E31.21|NCIT:C3225|UMLS:C0025267 https://rarediseases.info.nih.gov/diseases/3829/multiple-endocrine-neoplasia-type-1 owl:Class MONDO:0017169 biolink:NamedThing multiple endocrine neoplasia Multiple endocrine neoplasia (MEN) is a group of rare inherited cancer syndromes characterized by the development of two or more endocrine gland tumors, sometimes with tumor development in other tissues or organs. tmpaxzxjjyw_mondo_relaxed.owl multiple endocrine neoplasia syndrome(s)|men syndrome|multiple endocrine neoplasia syndrome|men syndromes|men|multiple endocrine adenomatosis|multiple endocrine neoplasia SCTID:46724008|ICD9:258.0|Orphanet:276161|ICD10:D44.8|NCIT:C6432|UMLS:C0027662|ICDO:8360/1|MedDRA:10061299|OMIMPS:131100 owl:Class GO:2000215 biolink:NamedThing negative regulation of proline metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of proline metabolic process. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of proline metabolism owl:Class MONDO:0004584 biolink:NamedThing maple bark strippers' lung tmpaxzxjjyw_mondo_relaxed.owl maple-bark strippers' lung|maple bark disease|maple bark stripper's lung|maple bark-strippers' lung|maple bark stripper's disease|alveolitis due to cryptostroma corticale ICD9:495.6|SCTID:86638007|UMLS:C0155890|DOID:8484|ICD10:J67.6 owl:Class MONDO:0020439 biolink:NamedThing patent foramen ovale A persistent opening in the atrial septum after birth. While a normal part of fetal circulation, the foramen ovale should close once the newborn begins breathing and the pressure in the left atrium exceeds that of the right atrium. While a PFO is generally asymptomatic, it can lead to the passage of clots from the venous circulation into the artierial circulation, resulting in paradoxical emboli, and possible strokes. tmpaxzxjjyw_mondo_relaxed.owl patent foramen ovale (disease)|persistent ostium secundum|atrial septal defect within oval fossa|foramen ovale patent|defect, patent or persistent, ostium secundum|ostium secundum type atrial septal defect|patent foramen ovale patent foramen ovale (disease) UMLS:C0016522|MedDRA:10016982|HP:0001655|MESH:D054092|NCIT:C34619|DOID:13620|Orphanet:99108|ICD10:Q21.1 owl:Class MONDO:0012208 biolink:NamedThing congenital reticular ichthyosiform erythroderma tmpaxzxjjyw_mondo_relaxed.owl Aarau disease|ichthyosis variegata|CRIE|erythroderma, ichthyosiform, congenital reticular|IWC|erythrokeratoderma, reticular|ichthyosis with confetti Orphanet:281190|UMLS:C3665704|OMIM:609165|MESH:C563781|SCTID:703504006 owl:Class MONDO:0009066 biolink:NamedThing juvenile nephropathic cystinosis Nephropathic juvenile cystinosis is the intermediate form, in regards to severity and age of onset, of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes. tmpaxzxjjyw_mondo_relaxed.owl cystinosis, intermediate|juvenile cystinosis|cystinosis, late-onset juvenile or adolescent nephropathic type|intermediate cystinosis|juvenile nephropathic cystinosis ICD10:E72.0+|UMLS:C0268626|ICD10:N16.3*|Orphanet:411634|SCTID:22830006|OMIM:219900|EFO:0009049|MESH:C562683|Orphanet:213 owl:Class MONDO:0020346 biolink:NamedThing synaptic congenital myasthenic syndrome tmpaxzxjjyw_mondo_relaxed.owl synaptic congenital myasthenic syndromes OMIM:603034|Orphanet:98915|ICD10:G70.2 owl:Class MONDO:0009963 biolink:NamedThing Ulbright-Hodes syndrome Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl renal dysplasia-limb defects syndrome|RL syndrome|renal dysplasia, mesomelia, and radiohumeral fusion|renal dysplasia limb defects syndrome|Ulbright Hodes syndrome|renal dysplasia-mesomelia-radiohumeral fusion syndrome GARD:0005394|UMLS:C1849438|MESH:C537754|ICD10:Q87.8|OMIM:266910|SCTID:719840003|Orphanet:3404 owl:Class MONDO:0012224 biolink:NamedThing febrile seizures, familial, 6 tmpaxzxjjyw_mondo_relaxed.owl febrile seizures, familial, 6|FEB6|convulsions, familial febrile, 6 DOID:0111309|OMIM:609253|UMLS:C1836518|MESH:C563764 owl:Class FOODON:00002373 biolink:NamedThing food product by meal type A meal type is the name of an eating occasion that may have location, food type, or other customary contextual features. (Damion's 1st draft definition) tmpaxzxjjyw_mondo_relaxed.owl Damion Dooley owl:Class MONDO:0016090 biolink:NamedThing late-infantile/juvenile Krabbe disease tmpaxzxjjyw_mondo_relaxed.owl Krabbe disease, late-onset SCTID:41142009|Orphanet:206443|ICD10:E75.2|UMLS:CN200855 owl:Class MONDO:0011582 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 1 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene. tmpaxzxjjyw_mondo_relaxed.owl NFU1 deficiency|MMDS1|NFU1 fatal multiple mitochondrial dysfunctions syndrome|multiple mitochondrial dysfunctions syndrome type 1|multiple mitochondrial dysfunctions syndrome 1|Mmds|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1 UMLS:CN226135|Orphanet:289573|Orphanet:401869|OMIM:605711|UMLS:C3276432|DOID:0080133|ICD10:E88.8 owl:Class MONDO:0008162 biolink:NamedThing otitis media, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl come/Rom|otitis Media, chronic/recurrent|otitis media, susceptibility to|OMS OMIM:166760 owl:Class PATO:0000140 biolink:NamedThing position A spatial quality inhering in a bearer by virtue of the bearer's spatial location relative to other objects in the vicinity. tmpaxzxjjyw_mondo_relaxed.owl relational spatial quality|placement|location owl:Class NCBITaxon:11050 biolink:NamedThing Flaviviridae tmpaxzxjjyw_mondo_relaxed.owl Flavivirus (arbovirus group B) GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004304 biolink:NamedThing mixed cell type adenoma of parathyroid A parathyroid gland adenoma that contains a mixture of neoplastic cells (chief cells, oncocytes, and clear cells). tmpaxzxjjyw_mondo_relaxed.owl mixed cell type adenoma of the parathyroid gland|mixed cell type adenoma of the parathyroid|parathyroid mixed cell type adenoma|mixed cell type adenoma of parathyroid|parathyroid gland mixed cell type adenoma|mixed cell type adenoma of parathyroid gland NCIT:C7994|DOID:7610|UMLS:C0279701 owl:Class MONDO:0018316 biolink:NamedThing fatal post-viral neurodegenerative disorder tmpaxzxjjyw_mondo_relaxed.owl Orphanet:391343|ICD10:G04.8|UMLS:CN204961 owl:Class MONDO:0002197 biolink:NamedThing minor vestibular glands adenoma A rare, benign neoplasm that arises from the vulva It is characterized by the presence of clusters of small glands lined by mucinous epithelial cells. Bartholin duct structures are not present. tmpaxzxjjyw_mondo_relaxed.owl adenoma of minor vestibular glands|minor vestibular gland adenoma DOID:2075|UMLS:C1510791|NCIT:C40301 owl:Class NCBITaxon:59848 biolink:NamedThing Chrysopsini tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43920 biolink:NamedThing Chrysopsinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003410 biolink:NamedThing Wolffian duct adenocarcinoma A cervical adenocarcinoma that arises from mesonephric remnants. It is usually characterized by the presence of tubular glands lined by cuboidal epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl mesonephric duct adenocarcinoma|Wolffian duct adenocarcinoma|cervical mesonephric adenocarcinoma UMLS:C1516419|NCIT:C40254|DOID:5368 owl:Class GO:0016712 biolink:NamedThing oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from reduced flavin or flavoprotein and one other donor, and one atom of oxygen is incorporated into one donor. tmpaxzxjjyw_mondo_relaxed.owl flavoprotein-linked monooxygenase activity|cytochrome P450 CYP19|cytochrome p450 activity|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidizing)|aryl-4-monooxygenase activity|xenobiotic monooxygenase activity|unspecific monooxygenase activity|aryl hydrocarbon hydroxylase activity|microsomal p450 activity|microsomal P-450|flavoprotein monooxygenase activity|microsomal monooxygenase activity owl:Class UBERON:0003575 biolink:NamedThing wrist connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003598 biolink:NamedThing manus connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019187 biolink:NamedThing Axenfeld-Rieger syndrome Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies. tmpaxzxjjyw_mondo_relaxed.owl Axenfeldt-Rieger syndrome|Rieger's anomaly|iridogoniodysgenesis with somatic anomalies|Rieger syndrome|Axenfeld syndrome|Hagedoom syndrome|anomaly, Rieger's|goniodysgenesis hypodontia|RGS - Rieger syndrome ICD10:Q13.8|ICD9:743.44|OMIM:180500|UMLS:CN776842|MedDRA:10059255|OMIM:602482|UMLS:C3495488|Orphanet:782|OMIM:601499|DOID:14686|MESH:C535679|SCTID:47507006|GARD:0005701|OMIMPS:180500|ICD10:Q13.81|NCIT:C131001 https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome owl:Class MONDO:0000584 biolink:NamedThing B cell linker protein deficiency A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation. tmpaxzxjjyw_mondo_relaxed.owl BLNK deficiency|B-cell linker protein deficiency DOID:0060027 owl:Class CL:0005000 biolink:NamedThing spinal cord interneuron A CNS interneuron located in the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl Is_a interneuron, part_of UBERON:0002240. cell owl:Class GO:0071396 biolink:NamedThing cellular response to lipid Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006102 biolink:NamedThing basaloid carcinoma A malignant epithelial neoplasm characterized by the presence of neoplastic cells with hyperchromatic nuclei, small amount of cytoplasm, and peripheral nuclear palisading. tmpaxzxjjyw_mondo_relaxed.owl basaloid carcinoma EFO:1000105|ICDO:8123/3|NCIT:C4121 owl:Class MONDO:0009863 biolink:NamedThing BH4-deficient hyperphenylalaninemia A An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits. tmpaxzxjjyw_mondo_relaxed.owl hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency|BH4-deficient hyperphenylalaninemia A|hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|hyperphenylalaninemia, Bh4-deficient, type a|6-pyruvoyl tetrahydropterin synthase deficiency|PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included|tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency|hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency|hyperphenylalaninemia, BH4-deficient, type A|Bh4-deficient hyperphenylalaninemia type A|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency|HPABH4A|PTS deficiency|hyperphenylalaninemia, BH4-deficient A|hyperphenylalaninemia, BH4-deficient, A|hyperphenylalanemia, BH4-deficient, A MESH:C535325|DOID:0090106|Orphanet:13|Orphanet:238583|OMIM:261640|NCIT:C138171|SCTID:237914002|GARD:0005682|GARD:5682|UMLS:C0878676|ICD10:E70.1 owl:Class MONDO:0016543 biolink:NamedThing hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninemia (HPA) due to tetrahydrobiopterin (BH4) deficiency, also known as malignant HPA is an amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine. tmpaxzxjjyw_mondo_relaxed.owl hyperphenylalaninemia|hyperphenylalaninemia due to tetrahydrobiopterin deficiency|non-phenylketonuric hyperphenylalaninemia|hyperphenylalaninemia due to BH4 deficiency UMLS:C0751435|ICD10:E70.1|SCTID:68528007|OMIM:264070|Orphanet:238583|OMIM:233910|GARD:0007751|OMIM:261630|OMIM:261640 owl:Class HGNC:20474 biolink:NamedThing TMC8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:138951 biolink:NamedThing Enterovirus D tmpaxzxjjyw_mondo_relaxed.owl Enterovirus EV-D|Human enterovirus D GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003420 biolink:NamedThing mesenchyme of sublingual gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002685 biolink:NamedThing regulation of leukocyte migration Any process that modulates the frequency, rate, or extent of leukocyte migration. tmpaxzxjjyw_mondo_relaxed.owl regulation of leucocyte migration|regulation of immune cell migration owl:Class GO:0002884 biolink:NamedThing negative regulation of hypersensitivity Any process that stops, prevents, or reduces the frequency, rate, or extent of hypersensitivity. tmpaxzxjjyw_mondo_relaxed.owl downregulation of hypersensitivity|down regulation of hypersensitivity|inhibition of hypersensitivity|down-regulation of hypersensitivity owl:Class MONDO:0002291 biolink:NamedThing cutaneous granular cell tumor A granular cell tumor that involves the zone of skin. tmpaxzxjjyw_mondo_relaxed.owl granular cell neoplasm of the skin|cutaneous granular cell tumor|granular cell tumor of zone of skin|granular cell tumor of the skin|skin granular cell tumor|granular cell neoplasm of skin|granular cell skin tumor|skin granular cell neoplasm|zone of skin granular cell tumor|granular cell tumor of skin|cutaneous granular cell neoplasm DOID:2410|ICD9:215.9|SCTID:254763007|NCIT:C5617|UMLS:C0346060 owl:Class MONDO:0024535 biolink:NamedThing Singleton-Merten syndrome 1 Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene. tmpaxzxjjyw_mondo_relaxed.owl IFIH1 singleton-Merten dysplasia|singleton-Merten dysplasia caused by mutation in IFIH1|singleton-Merten syndrome 1|SGMRT1 UMLS:C4225427|OMIM:182250|Orphanet:85191 owl:Class MONDO:0008449 biolink:NamedThing spina bifida A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae. tmpaxzxjjyw_mondo_relaxed.owl spinal myelomeningocele|NTD|rachischisis|spinal meningocele|spina bifida (disease)|spinal myelocele|neural tube defects, susceptibility to|spina bifida spina bifida (disease) EFO:0003105|Orphanet:823|MESH:D016135|Orphanet:268357|SCTID:67531005|NCIT:C101214|DOID:0080016|HP:0002414|ICD9:741 owl:Class MONDO:0008957 biolink:NamedThing cervical vertebrae, agenesis of tmpaxzxjjyw_mondo_relaxed.owl cervical vertebrae, agenesis of MESH:C562952|OMIM:214290 owl:Class MONDO:0006507 biolink:NamedThing hereditary hemochromatosis An inherited metabolic disorder characterized by iron accumulation in the tissues. tmpaxzxjjyw_mondo_relaxed.owl hemochromatosis, hereditary|diabetes bronze|hemochromatosis|haemochromatosis|iron storage disorder MESH:D006432|SCTID:35400008|NCIT:C84481|DOID:2352|GARD:0010746|EFO:1000642|OMIMPS:235200|ICD10:E83.119|ICD10:E83.11|ICD10:E83.110|OMIM:231100 Editor notes: HH1 is not rare, so the current placement of generic HH under rare inborn errors of metabolism is technically incorrect. However, reclassifying on the basis of prelvalence does not make biological sense since the mechanism is the same. See notes on MONDO:0019052 https://github.com/monarch-initiative/mondo/issues/3557 owl:Class MONDO:0006097 biolink:NamedThing atypical lipomatous tumor An intermediate, locally aggressive lipomatous neoplasm. Microscopically, the adipose tissue contains large and pleomorphic lipoblasts, and is dissected by fibrous septa containing spindle cells. It requires a wide local excision, may recur locally, but never metastasizes. tmpaxzxjjyw_mondo_relaxed.owl well differentiated liposarcoma of superficial soft tissue|lipoma-like liposarcoma|Atypical lipoma|superficial well differentiated liposarcoma|well differentiated liposarcoma|ALT|liposarcoma, well differentiated (morphologic abnormality) DOID:5690|EFO:1000099|NCIT:C6505|ICDO:8850/1 owl:Class HGNC:25491 biolink:NamedThing FRMD4A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000476 biolink:NamedThing generalized dystonia tmpaxzxjjyw_mondo_relaxed.owl Oppenheim Ziehen disease|torsion disease, childhood|symptomatic torsion dystonia|torsion dystonia, Idiopathic|spasm, Progressive torsion|Idiopathic torsion dystonia|dystonia deformans progressiva|Progressive torsion spasm|idiopathic torsion dystonia|dystonia deformans musculorum|torsion disease of childhood|torsion spasm, Progressive|dystonias, torsion|idiopathic non-familial dystonia|dystonia, Idiopathic torsion|Idiopathic torsion dystonias|childhood torsion disease|torsion dystonia|dystonia musculorum deformans|fragments of torsion dystonia|Oppenheim-Ziehen disease|dystonia 12|familial dystonia|idiopathic familial dystonia|dystonias, Idiopathic torsion UMLS:C0013423|DOID:0050835|ICD9:333.6|ICD9:333.89|ICD10:G24.2|SCTID:425492002|MESH:D004422|ICD10:G24.1|MESH:D020821|ICD9:333.8 Editor note: TODO owl:Class MONDO:0010596 biolink:NamedThing membranoproliferative glomerulonephritis, X-linked tmpaxzxjjyw_mondo_relaxed.owl Mesangiocapillary glomerulonephritis, X-linked|membranoproliferative glomerulonephritis, X-linked Orphanet:54370|UMLS:C1844501|OMIM:305800|MESH:C564423 owl:Class MONDO:0018904 biolink:NamedThing primary membranoproliferative glomerulonephritis A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded. tmpaxzxjjyw_mondo_relaxed.owl MPGN|Mesangiocapillary glomerulonephritis|membranoproliferative glomerulonephritis OMIM:615008|ICD9:583.2|MedDRA:10018370|ICD10:N00.5|OMIM:305800|OMIM:614809|OMIM:609814|GARD:0011982|Orphanet:54370 owl:Class HGNC:1965 biolink:NamedThing CHRND tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019228 biolink:NamedThing inborn disorder of histidine metabolism An acquired metabolic disease that is has its basis in the disruption of histidine metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of histidine metabolism|histidine metabolism disease|inborn error of histidine metabolism|rare inborn error of histidine metabolic process|inborn histidine metabolic process disorder|disturbances of histidine metabolism|inborn error of histidine metabolic process ICD9:270.5|ICD10:E70.40|DOID:9265|ICD10:E70.8|ICD10:E70.4|Orphanet:79181 owl:Class HGNC:4392 biolink:NamedThing GNAS tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903025 biolink:NamedThing regulation of RNA polymerase II regulatory region sequence-specific DNA binding Any process that modulates the frequency, rate or extent of RNA polymerase II regulatory region sequence-specific DNA binding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13481 biolink:NamedThing UNC93B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002249 biolink:NamedThing thrombocytosis disease A disease characterized by higher than normal platelet counts in the peripheral blood. tmpaxzxjjyw_mondo_relaxed.owl elevated Platelet count|Thrombocythaemia|Platelet count increased|thrombocytosis ICD9:289.9|MESH:D013922|UMLS:C0836924|SCTID:6631009|DOID:2228|NCIT:C35530 owl:Class MONDO:0003378 biolink:NamedThing liver leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the liver. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of liver|hepatic leiomyosarcoma|liver leiomyosarcoma|leiomyosarcoma of the liver NCIT:C5756|DOID:5296|UMLS:C1333969 owl:Class UBERON:0005000 biolink:NamedThing mucosa of common bile duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060049 biolink:NamedThing regulation of protein glycosylation Any process that modulates the frequency, rate or extent of protein glycosylation. Protein glycosylation is the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. tmpaxzxjjyw_mondo_relaxed.owl regulation of protein amino acid glycosylation owl:Class GO:0010559 biolink:NamedThing regulation of glycoprotein biosynthetic process Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of a glycoprotein, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021221 biolink:NamedThing vestibulocochlear nerve neoplasm A neoplasm (disease) that involves the vestibulocochlear nerve. tmpaxzxjjyw_mondo_relaxed.owl Vestibuloacoustic nerve neoplasms|tumor of eighth cranial nerve|neoplasm of acoustic nerve|neoplasm of vestibulocochlear nerve|acoustic nerve neoplasm|eighth cranial nerve neoplasms|tumor of vestibulocochlear nerve|vestibulocochlear nerve neoplasm (disease)|eighth cranial nerve neoplasm|tumor of the eighth cranial nerve|vestibulocochlear nerve tumor|tumor of the vestibulocochlear nerve|acoustic nerve tumor|neoplasm of eighth cranial nerve|cranial nerve eight neoplasms|neoplasm of the acoustic nerve|eighth cranial nerve tumor|neoplasm of the vestibulocochlear nerve|neoplasm of the eighth cranial nerve|tumor of acoustic nerve|tumor of the acoustic nerve|vestibulocochlear nerve neoplasms UMLS:C0346330|SCTID:387891008|NCIT:C5120 owl:Class MONDO:0012063 biolink:NamedThing ulnar/fibula ray defect-brachydactyly syndrome Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl Morava-Mehes syndrome|ulnar/fibular RAY defect and brachydactyly SCTID:719843001|ICD10:Q73.8|Orphanet:52056|OMIM:608571|MESH:C563905 owl:Class HGNC:28072 biolink:NamedThing LYRM7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014722 biolink:NamedThing Roifman syndrome tmpaxzxjjyw_mondo_relaxed.owl ROIFMAN syndrome|spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency|RFMN|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency|Roifman syndrome|spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome ICD10:Q77.7|OMIM:616651|Orphanet:353298|MESH:C535866|UMLS:C1846059|GARD:0009163 https://rarediseases.info.nih.gov/diseases/9163/roifman-syndrome owl:Class MONDO:0032821 biolink:NamedThing myopathy, congenital, progressive, with scoliosis tmpaxzxjjyw_mondo_relaxed.owl MYOSCO|MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS OMIM:618578 owl:Class MONDO:0006878 biolink:NamedThing Moraxellaceae infectious disease Infections with bacteria of the family moraxellaceae. tmpaxzxjjyw_mondo_relaxed.owl Moraxella infections|infections, Psychobacter|infections, Moraxella|Moraxellaceae infection|Moraxella infection|Psychobacter infections|infections, Moraxellaceae|infection, Psychobacter|Moraxellaceae disease or disorder|Psychobacter infection|infection, Moraxellaceae|Moraxellaceae caused disease or disorder|infection, Moraxella MESH:D045828|EFO:1001072 owl:Class MONDO:0004587 biolink:NamedThing hereditary night blindness An instance of night blindness that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl congenital night blindness|hereditary night blindness|Oguchi's disease DOID:8498|ICD9:368.61|ICD10:H53.63|SCTID:193687000 owl:Class GO:0015696 biolink:NamedThing ammonium transport The directed movement of ammonium into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Ammonium is the cation NH4+ which is formed from N2 by root-nodule bacteria in leguminous plants and is an excretory product in ammonotelic animals. tmpaxzxjjyw_mondo_relaxed.owl ammonia transport owl:Class MONDO:0006769 biolink:NamedThing gastroparesis Paralysis of the muscles of the stomach wall resulting in delayed emptying of the gastric contents into the small intestine. tmpaxzxjjyw_mondo_relaxed.owl gastroparesis syndrome|gastroparalysis|gastroparesis (disease)|gastric atonia|gastroparesis gastroparesis (disease) ICD10:K31.84|HP:0002578|NCIT:C80512|ICD9:536.3|MESH:D018589|MedDRA:10018043|EFO:1000948|DOID:11914|SCTID:196753007|UMLS:C0152020 owl:Class MONDO:0001318 biolink:NamedThing functional gastric disease tmpaxzxjjyw_mondo_relaxed.owl functional gastric disorder|disorder of function of stomach|functional gastric disturbance|disorder of stomach function|disorder of gastric function ICD9:306.4|DOID:1159|ICD9:536.8|ICD9:536.9|SCTID:150541000119104|SCTID:386211005 owl:Class UBERON:0007823 biolink:NamedThing appendage girdle region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009075 biolink:NamedThing Dandy-Walker malformation-postaxial polydactyly syndrome Dandy-Walker malformation with postaxial polydactyly syndrome is a syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals. tmpaxzxjjyw_mondo_relaxed.owl Dandy-Walker malformation with postaxial polydactyly|Pierquin syndrome|DWM with postaxial polydactyly OMIM:220220|ICD10:Q87.8|Orphanet:1566|SCTID:733094005|UMLS:C1857351|GARD:0001669|MESH:C535771 owl:Class MONDO:0001660 biolink:NamedThing proliferative diabetic retinopathy Advanced retinopathy due to diabetes mellitus characterized by the formation of new vessels in the retina. The new vessels are abnormal and fragile. If hemorrhage occurs due to the vascular fragility, there is increased risk of vision loss or blindness. tmpaxzxjjyw_mondo_relaxed.owl ICD9:362.02|DOID:13207|NCIT:C84457|UMLS:C0154830|SCTID:59276001 owl:Class MONDO:0000387 biolink:NamedThing hypochromic microcytic anemia Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic). tmpaxzxjjyw_mondo_relaxed.owl hypochromic microcytic anemia|hypochromic microcytic anemia (disease) hypochromic microcytic anemia (disease) DOID:0050642|UMLS:C0271901|MESH:C536357|OMIM:206100|OMIM:615234|SCTID:44666001|HP:0004840 owl:Class MONDO:0008696 biolink:NamedThing acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome This syndrome is characterised by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. tmpaxzxjjyw_mondo_relaxed.owl acanthosis nigricans muscle cramps acral enlargement|acanthosis nigricans with muscle cramps and acral enlargement|familial insulin resistance with acanthosis nigricans, acral hypertrophy and muscle cramps MESH:C536000|UMLS:C1860215|GARD:0000453|Orphanet:90301|OMIM:200170 owl:Class UBERON:0034708 biolink:NamedThing cerebellum marginal layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005109 biolink:NamedThing metanephric smooth muscle tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000380 biolink:NamedThing paranasal sinus carcinoma A malignant epithelial neoplasm arising in the paranasal sinus. tmpaxzxjjyw_mondo_relaxed.owl epidermoid carcinoma of the paranasal sinus|paranasal sinus adenocarcinoma|malignant paranasal sinus neoplasm|accessory sinus carcinoma|squamous cell carcinoma of paranasal sinus|adenoid cystic carcinoma of accessory sinus|carcinoma of the accessory sinus|carcinoma of the paranasal sinus|malignant neoplasm of paranasal sinus|mucoepidermoid carcinoma of accessory sinus|paranasal sinus mucoepidermoid carcinoma|cancer of paranasal sinus|paranasal sinus carcinoma|accessory sinus cancer|paranasal sinus cancer|paranasal sinus adenoid cystic carcinoma|carcinoma of paranasal sinus|adenoid cystic carcinoma of paranasal sinus|carcinoma of accessory sinus|paranasal sinus squamous cell carcinoma NCIT:C6014|UMLS:C0854995|UMLS:C0280334|DOID:0050619|NCIT:C8193 owl:Class MONDO:0012542 biolink:NamedThing psoriasis 8, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl PSORS8|psoriasis 8, susceptibility to OMIM:610707|DOID:0111288 owl:Class MONDO:0015595 biolink:NamedThing posttransplant acute limbic encephalitis Posttransplant acute limbic encephalitis is a rare, acquired, non-paraneoplastic limbic encephalitis disorder, that develops in the setting of treatment-related immunosuppression, typically after allogeneic hemapoietic stem cell transplantation, characterized by onset of confusion, headache, anterograde amnesia, seizures and/or loss of consciousness 2-6 weeks following transplantation. Bilateral, non-enhancing T2 hyperintensities in limbic structures are observed on magnetic resonance imaging. Mild cerebrospinal fluid pleocytosis and syndrome of inappropriate antidiuretic hormone secretion may also be associated. tmpaxzxjjyw_mondo_relaxed.owl pale Orphanet:163921|ICD10:A86 owl:Class GO:0070858 biolink:NamedThing negative regulation of bile acid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of bile acid synthesis|negative regulation of bile acid anabolism|downregulation of bile acid biosynthetic process|negative regulation of bile acid formation|negative regulation of bile acid biosynthesis|inhibition of bile acid biosynthetic process|down-regulation of bile acid biosynthetic process|down regulation of bile acid biosynthetic process owl:Class GO:1904252 biolink:NamedThing negative regulation of bile acid metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of bile acid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl downregulation of bile acid metabolic process|down-regulation of bile acid metabolic process|downregulation of bile acid metabolism|inhibition of bile acid metabolic process|down regulation of bile acid metabolism|negative regulation of bile acid metabolism|inhibition of bile acid metabolism|down regulation of bile acid metabolic process|down-regulation of bile acid metabolism owl:Class MONDO:0009202 biolink:NamedThing Thakker-Donnai syndrome tmpaxzxjjyw_mondo_relaxed.owl dysmorphic facial features and multiple structural abnormalities|Dysmorphism multiple structural anomalies|Dysmorphism-multiple structural anomalies syndrome|facial dysmorphism with multiple malformations OMIM:227255|GARD:0005158|UMLS:C2931219|Orphanet:1780|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/5158/thakker-donnai-syndrome owl:Class CL:0002118 biolink:NamedThing CD38-negative IgG-negative class switched memory B cell A CD38-negative IgG-negative memory B cell is a IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD38-negative and IgG-negative. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class GO:0006839 biolink:NamedThing mitochondrial transport Transport of substances into, out of or within a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial alpha-ketoglutarate/malate transport|mitochondrial sodium/calcium ion exchange|mitochondrial aspartate/glutamate transport owl:Class UBERON:0006716 biolink:NamedThing mesopodium region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003004 biolink:NamedThing macular degeneration Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration. tmpaxzxjjyw_mondo_relaxed.owl macular degeneration of retina|macula lutea retinal degeneration|macula retinal degeneration|retinal degeneration of macula lutea DOID:4448|SCTID:422338006|UMLS:C0024437|NCIT:C123330|MESH:D057135|MESH:D008268 owl:Class MONDO:0008836 biolink:NamedThing ataxia with myoclonic epilepsy and presenile dementia tmpaxzxjjyw_mondo_relaxed.owl ataxia with myoclonic epilepsy and presenile dementia UMLS:C1859646|MESH:C565933|OMIM:208700 owl:Class MONDO:0043358 biolink:NamedThing engraftment syndrome A toxicity of hematopoietic stem cell transplantation that manifests as fever, rash and pulmonary deterioration which becomes evident at marrow engraftment. It occurs unexpectedly and is occasionally fatal. It can occur after an autogeneic or an allogeneic hematopoietic cell transplantation. tmpaxzxjjyw_mondo_relaxed.owl engraftment syndrome NCIT:C63324|GARD:0011909|UMLS:C0919746|SCTID:426768001 owl:Class MONDO:0031012 biolink:NamedThing autoimmune uveitis An autoimmune form of uveitis (disease). tmpaxzxjjyw_mondo_relaxed.owl autoimmune uveitis (disease) DOID:0040088 owl:Class MONDO:0012423 biolink:NamedThing MORM syndrome MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34. tmpaxzxjjyw_mondo_relaxed.owl MORMS|mental retardation, truncal obesity, retinal dystrophy and micropenis|mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome|mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome|intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome|MORM syndrome|intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome|intellectual disability, truncal obesity, retinal dystrophy and micropenis OMIM:610156|MESH:C536984|Orphanet:75858|GARD:0010121|SCTID:715628009|UMLS:C1857802 https://rarediseases.info.nih.gov/diseases/10121/morm-syndrome owl:Class MONDO:0015487 biolink:NamedThing fatal infantile encephalocardiomyopathy Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy. tmpaxzxjjyw_mondo_relaxed.owl fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency|fatal infantile cytochrome C oxidase deficiency|fatal infantile COX deficiency|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency|fatal infantile encephalomyopathy|fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency OMIM:616501|OMIM:604377|ICD10:G71.3|SCTID:718124006|OMIM:615119|Orphanet:1561|GARD:0001113|DOID:0050713|OMIM:616500 Editor note: check GARD xref https://rarediseases.info.nih.gov/diseases/1113/fatal-infantile-encephalomyopathy owl:Class MONDO:0011456 biolink:NamedThing nephronophthisis 3 Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene. tmpaxzxjjyw_mondo_relaxed.owl NPHP3 nephronophthisis (disease)|NPH3|nephronophthisis 3|nephronophthisis type 3|nephronophthisis (disease) caused by mutation in NPHP3|Nph3|NPHP3 OMIM:604387|DOID:0111114|UMLS:C1858392|MESH:C565780|Orphanet:655 owl:Class MONDO:0100005 biolink:NamedThing primary mast cell activation syndrome Mast cell activation syndrome where KIT-mutated and clonal mast cells are detected. tmpaxzxjjyw_mondo_relaxed.owl primary MACS 2018-07-17 21:43:00+00:00 owl:Class MONDO:0100004 biolink:NamedThing mast cell activation syndrome A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS). tmpaxzxjjyw_mondo_relaxed.owl MACS|disorder of mast cell activation|mast cell activation disease 2018-07-17 21:32:53+00:00 GARD:0012981 owl:Class MONDO:0007909 biolink:NamedThing familial multiple lipomatosis Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported. tmpaxzxjjyw_mondo_relaxed.owl lipoma|lipomatosis, familial multiple|lipomatosis, multiple SCTID:766888002|ICD9:214.9|ICD10:E88.2|GARD:0012925|OMIM:151900|Orphanet:199276|ICD9:214.8 owl:Class MONDO:0020101 biolink:NamedThing constitutional hemolytic anemia due to membrane defect A group of inherited hemolytic anemias caused by erythrocyte membrane defects. This includes hereditary pyropoikilocytosis, hereditary spherocytosis and hereditary elliptocytosis. tmpaxzxjjyw_mondo_relaxed.owl hemolytic anemia due to erythrocyte membrane defect|rare constitutional hemolytic anemia due to a red cell membrane anomaly|anemia due to membrane defect|hemolytic anemia due to membrane defect 2022-03-01 NCIT:C101218|SCTID:111575000|Orphanet:98364|UMLS:CN227780 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemolytic anemia' MONDO_0003664 owl:Class MONDO:0016035 biolink:NamedThing Nelson syndrome A syndrome that develops following bilateral adrenalectomy for Cushing syndrome. The signs and symptoms result from the presence of an adenocorticotropin-secreting pituitary gland adenoma, and include enlargement of the sella turcica and pressure on the adjacent structures, and skin hyperpigmentation. tmpaxzxjjyw_mondo_relaxed.owl dermal Ridges|Nelson's syndrome|Ridges-off-the-end syndrome MedDRA:10028913|MESH:D009347|NCIT:C84917|MESH:C531754|Orphanet:199244|SCTID:43019009|ICD10:E24.1|UMLS:C0027577|GARD:0007170|DOID:4968 https://rarediseases.info.nih.gov/diseases/7170/nelson-syndrome owl:Class MONDO:0002407 biolink:NamedThing capillary hemangioma A common hemangioma characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. tmpaxzxjjyw_mondo_relaxed.owl strawberry nevus of skin|congenital vascular naevus|congenital vascular hamartoma|infantile hemangioma|cellular hemangioma of infancy (strawberry nevus)|strawberry nevus|strawberry haemangioma|capillary hemangioma|juvenile hemangioma|capillary hemangioma (morphologic abnormality)|capillary angioma|cellular hemangioma of infancy MESH:D018324|SCTID:56975005|DOID:2725|NCIT:C7457|ICDO:9131/0|ICD10:Q82.5|UMLS:C0206733 owl:Class MONDO:0015431 biolink:NamedThing ring chromosome 10 Ring chromosome 10 syndrome is characterized by intellectual deficit, growth retardation, and various dysmorphic features. Less than 20 cases have been described. The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. Congenital heart disease, hydronephrosis or renal hypoplasia was present in some of the cases. tmpaxzxjjyw_mondo_relaxed.owl Ring 10|Ring chromosome 10 syndrome|Ring chromosome type 10|chromosome 10 ring|r10 UMLS:CN037257|ICD10:Q93.2|GARD:0001322|SCTID:86997002|MESH:C538086|Orphanet:1438|UMLS:C0265438 https://rarediseases.info.nih.gov/diseases/1322/ring-chromosome-10 owl:Class MONDO:0008048 biolink:NamedThing autosomal dominant centronuclear myopathy Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. tmpaxzxjjyw_mondo_relaxed.owl DNM2-related centronuclear myopathy|myopathy, centronuclear, type 1|centronuclear myopathy, autosomal dominant|myopathy, centronuclear, autosomal dominant|autosomal dominant centronuclear myopathy|myopathy, centronuclear, 1|CNM1|AD-CNM|myotubular myopathy, autosomal dominant|centronuclear myopathy 1 UMLS:C1834558|SCTID:716696006|ICD10:G71.2|OMIM:614408|OMIM:160150|GARD:0012719|Orphanet:169189|DOID:0111217|NCIT:C126689 https://rarediseases.info.nih.gov/diseases/12719/autosomal-dominant-centronuclear-myopathy owl:Class MONDO:0005402 biolink:NamedThing lymphoid leukemia A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. tmpaxzxjjyw_mondo_relaxed.owl lymphogenous leukemia|leukemia, LYMPHOCYTIC, malignant|lymphoid leukemia|lymphocytic leukemia|lymphoid leukemia (disease)|subacute lymphoid leukemia lymphoid leukemia (disease) DOID:10747|ICD9:204.20|ICD9:204.2|SCTID:188726003|NCIT:C7539|ICDO:981-983|EFO:0004289|ICD9:204|HP:0005526|MESH:D007945|UMLS:C0152271|UMLS:C0023448|ICDO:9820/3 owl:Class GO:0019627 biolink:NamedThing urea metabolic process The chemical reactions and pathways involving urea, the water soluble compound O=C-(NH2)2. tmpaxzxjjyw_mondo_relaxed.owl urea metabolism owl:Class GO:1901860 biolink:NamedThing positive regulation of mitochondrial DNA metabolic process Any process that activates or increases the frequency, rate or extent of mitochondrial DNA metabolic process. tmpaxzxjjyw_mondo_relaxed.owl activation of mitochondrial DNA metabolic process|upregulation of mitochondrial DNA metabolism|up-regulation of mitochondrial DNA metabolic process|activation of mtDNA metabolic process|activation of mitochondrial DNA metabolism|activation of mtDNA metabolism|positive regulation of mitochondrial DNA metabolism|up regulation of mtDNA metabolism|up regulation of mitochondrial DNA metabolism|up-regulation of mitochondrial DNA metabolism|upregulation of mtDNA metabolic process|up regulation of mitochondrial DNA metabolic process|up-regulation of mtDNA metabolism|positive regulation of mtDNA metabolic process|upregulation of mitochondrial DNA metabolic process|upregulation of mtDNA metabolism|positive regulation of mtDNA metabolism|up-regulation of mtDNA metabolic process|up regulation of mtDNA metabolic process owl:Class GO:0010822 biolink:NamedThing positive regulation of mitochondrion organization Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of mitochondrion organisation owl:Class UBERON:0004522 biolink:NamedThing vasculature of musculoskeletal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004927 biolink:NamedThing dacryocystocele A congenital or acquired mucocele that develops in the lacrimal sac. It is usually the result of nasolacrimal duct abnormalities or obstruction. tmpaxzxjjyw_mondo_relaxed.owl lacrimal mucocele NCIT:C98968|ICD9:375.43|DOID:9939 owl:Class ECTO:0000515 biolink:NamedThing exposure to herbicide An exposure to herbicide. tmpaxzxjjyw_mondo_relaxed.owl exposure to herbicide owl:Class MONDO:0011542 biolink:NamedThing psoriasis 6, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl PSORS6|psoriasis 6, susceptibility to DOID:0111290|OMIM:605364 owl:Class MONDO:0010557 biolink:NamedThing choroideremia Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium (RPE) and retina. tmpaxzxjjyw_mondo_relaxed.owl choroideremia|TCD|progressive tapetochoroidal dystrophy|choroidal sclerosis|CHM|Tapetochoroidal dystrophy, progressive|Tapetochoroidal dystrophy|progressive choroidal atrophy ICD10:H31.2|GARD:0006061|ICD10:H31.21|MESH:D015794|SCTID:75241009|ICD9:363.55|MedDRA:10008791|Orphanet:180|UMLS:C0008525|DOID:9821|NCIT:C34469|OMIM:303100 https://rarediseases.info.nih.gov/diseases/6061/choroideremia owl:Class HGNC:26054 biolink:NamedThing SLC25A38 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014883 biolink:NamedThing hypertrophic cardiomyopathy 26 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the FLNC gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, familial restrictive, 5|CMH26|cardiomyopathy, familial hypertrophic, 26|cardiomyopathy familial hypertrophic 26|FLNC hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, type 26|hypertrophic cardiomyopathy caused by mutation in FLNC|hypertrophic cardiomyopathy type 26 UMLS:C4310749|OMIM:617047|DOID:0110327 owl:Class MONDO:0012514 biolink:NamedThing hypomyelinating leukodystrophy 5 Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl leukodystrophy, hypomyelinating, 5|hypomyelinating leukodystrophy type 5|HLD5|hypomyelination - congenital cataract|leukodystrophy caused by mutation in FAM126A|leukodystrophy, hypomyelinating, type 5|hypomyelination and congenital cataract|hypomyelination and congenital cataract: HCC|FAM126A leukodystrophy|hypomyelination-congenital cataract syndrome Orphanet:85163|OMIM:610532|ICD10:G37.8|MESH:C567166|DOID:0060793|SCTID:702379005|GARD:0011980|UMLS:C1864663|ICD9:341.8 owl:Class MONDO:0021099 biolink:NamedThing intraductal papillomatosis A neoplastic process characterized by the presence of multiple intraductal papillomas. tmpaxzxjjyw_mondo_relaxed.owl intraductal papillomatosis|duct papillomatosis NCIT:C7363|UMLS:C0334377|ICDO:8505/0 owl:Class MONDO:0019642 biolink:NamedThing vitamin D-dependent rickets, type 2 Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia. tmpaxzxjjyw_mondo_relaxed.owl vitamin D dependent rickets 2|HVDRR|vitamin D-dependent rickets type II|vitamin D-resistant rickets type II|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal Vitamin D receptor|VDDR II|VDRR II|hypocalcemic vitamin D-resistant rickets|VDDR2|vitamin D receptor deficiency|hereditary vitamin D-resistant rickets|vitamin D-dependent rickets, type 2 OMIM:277440|Orphanet:93160|OMIM:600785|ICD10:E83.3|NCIT:C131077|SCTID:72831007 Editor note: ORDO uses dependent-vs-resistant to name types 2 and 1. NCIT seems to confuse type 2 with type 2A owl:Class MONDO:0012073 biolink:NamedThing ribose-5-P isomerase deficiency Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy. tmpaxzxjjyw_mondo_relaxed.owl ribose 5-phosphate isomerase deficiency OMIM:608611|ICD9:277.6|SCTID:124667004|MESH:C563212|Orphanet:440706|UMLS:C1291609 owl:Class MONDO:0019231 biolink:NamedThing inborn disorder of pentose phosphate metabolism tmpaxzxjjyw_mondo_relaxed.owl disorder of pentose phosphate metabolism Orphanet:79186|ICD10:E74.8|UMLS:CN227596 owl:Class UBERON:0010171 biolink:NamedThing strand of hair of face tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016446 biolink:NamedThing hair of head tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004075 biolink:NamedThing infiltrating lipoma A benign tumor, composed of lobules of mature adipocytes, that penetrates the surrounding tissue from which it arises. There is usually a higher local recurrence rate when compared with non-infiltrating lipomas. tmpaxzxjjyw_mondo_relaxed.owl intramuscular lipoma|intramuscular lipoma (morphologic abnormality) UMLS:C0334473|DOID:7014|NCIT:C7451 owl:Class MONDO:0015573 biolink:NamedThing subacute cutaneous lupus erythematosus Subacute cutaneous lupus erythematosus (SCLE) is a form of cutaneous lupus erythematosus (CLE) that can present either as a non-scarring, annular photo-distributed dermatosis or psoriasiform plaques. SCLE is associated with anti-Ro/SSA antibodies and can be drug-induced. tmpaxzxjjyw_mondo_relaxed.owl ICD10:L93.1|SCTID:239891002|MedDRA:10057903|NCIT:C117111|UMLS:C0024140|Orphanet:163525 owl:Class MONDO:0005282 biolink:NamedThing cutaneous lupus erythematosus An autoimmune disorder that manifests as different lupus-specific skin disorders; it can occur with systemic lupus erythematosus, or as a singular disease. tmpaxzxjjyw_mondo_relaxed.owl lupus erythematosus, cutaneous NCIT:C26819|GARD:0006225|UMLS:C0024137|SCTID:7119001|DOID:0050169|MESH:D008178|EFO:0003834 https://rarediseases.info.nih.gov/diseases/6225/cutaneous-lupus-erythematosus owl:Class GO:0007623 biolink:NamedThing circadian rhythm Any biological process in an organism that recurs with a regularity of approximately 24 hours. tmpaxzxjjyw_mondo_relaxed.owl circadian process|circadian response|response to circadian rhythm owl:Class CL:0001066 biolink:NamedThing erythroid progenitor cell, mammalian A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative). tmpaxzxjjyw_mondo_relaxed.owl erythroid stem cell|colony forming unit erythroid|CFU-E|blast forming unit erythroid|burst forming unit erythroid|BFU-E BTO:0004911 cell owl:Class FOODON:00001046 biolink:NamedThing seafood product A seafood product is a vertebrate or invertibrate organism from an aquatic environment. tmpaxzxjjyw_mondo_relaxed.owl Some of the subclasses are currently freshwater organisms. Damion Dooley owl:Class OBO:CHR_9606-chr5q22.2 biolink:NamedThing 5q22.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 113800000 112200000 hg38 owl:Class UBERON:0008844 biolink:NamedThing gubernaculum (female) tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000724 biolink:NamedThing condensation process Condensation is a process during which a gas undergoes a phase transition into a liquid. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006404 biolink:NamedThing salivary gland large cell carcinoma A rare, highly aggressive carcinoma that arises from the salivary gland, predominantly the parotid gland. It is characterized by the presence of large pleomorphic malignant cells with abundant cytoplasm. Patients usually present with a rapidly growing mass. tmpaxzxjjyw_mondo_relaxed.owl saliva-secreting gland large cell carcinoma|large cell undifferentiated salivary gland carcinoma|salivary gland large cell carcinoma|large cell salivary gland carcinoma EFO:1000517|UMLS:C2111671|NCIT:C35735 owl:Class MONDO:0000521 biolink:NamedThing salivary gland carcinoma A carcinoma that arises from the major or minor salivary glands. Representative examples include carcinoma ex pleomorphic adenoma, adenocarcinoma, adenoid cystic carcinoma, and mucoepidermoid carcinoma. tmpaxzxjjyw_mondo_relaxed.owl saliva-secreting gland carcinoma|carcinoma of the salivary gland|salivary carcinoma|salivary gland carcinoma|salivary gland cancer|carcinoma of saliva-secreting gland|carcinoma of salivary gland ONCOTREE:SACA|DOID:0050904|NCIT:C9272|UMLS:C0948750 owl:Class MONDO:0017409 biolink:NamedThing fetal cytomegalovirus syndrome An infection with the Cytomegalovirus that is present from birth. tmpaxzxjjyw_mondo_relaxed.owl antenatal CMV infection|mother-to-child transmission of cytomegalovirus syndrome|congenital cytomegalovirus|congenital Cytomegaloviral infection|CMV antenatal infection|antenatal cytomegalovirus infection SCTID:276701009|NCIT:C122427|GARD:0001409|Orphanet:294|GARD:0001480|ICD10:P35.1|UMLS:C0349499 https://rarediseases.info.nih.gov/diseases/1480/congenital-cytomegalovirus|https://rarediseases.info.nih.gov/diseases/1409/cmv-antenatal-infection owl:Class UBERON:0009552 biolink:NamedThing distal segment of manual digit tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009551 biolink:NamedThing distal segment of digit tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004309 biolink:NamedThing sarcomatosis The occurrence of several sarcomas in different anatomic locations. tmpaxzxjjyw_mondo_relaxed.owl sarcomatosis NOS (morphologic abnormality)|sarcomatosis (morphologic abnormality)|sarcomatosis UMLS:C0334451|ICDO:8800/9|NCIT:C4243|DOID:7615 owl:Class GO:0030853 biolink:NamedThing negative regulation of granulocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl inhibition of granulocyte differentiation|down-regulation of granulocyte differentiation|downregulation of granulocyte differentiation|down regulation of granulocyte differentiation owl:Class GO:0002762 biolink:NamedThing negative regulation of myeloid leukocyte differentiation Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of myeloid leukocyte differentiation|down-regulation of myeloid leukocyte differentiation|down regulation of myeloid leukocyte differentiation|inhibition of myeloid leukocyte differentiation owl:Class MONDO:0015198 biolink:NamedThing aniridia-ptosis-intellectual disability-familial obesity syndrome Aniridia - ptosis - intellectual disability - familial obesity is an extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. tmpaxzxjjyw_mondo_relaxed.owl aniridia - ptosis - intellectual disability - familial obesity UMLS:CN226622|SCTID:720987001|GARD:0000689|Orphanet:1067 owl:Class MONDO:0054727 biolink:NamedThing spermatogenic failure 23 tmpaxzxjjyw_mondo_relaxed.owl SPGF23|spermatogenic failure 23 OMIM:617707|DOID:0070181|UMLS:C4540185 owl:Class MONDO:0002721 biolink:NamedThing necrosis of pituitary Ischemic or hemorrhagic necrosis of the pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl pituitary gland Necrosis|pituitary necrosis NCIT:C27066|UMLS:C0271558|SCTID:59572000|DOID:3646 owl:Class MONDO:0016366 biolink:NamedThing maternal phenylketonuria Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations. tmpaxzxjjyw_mondo_relaxed.owl maternal hyperphenylalaninemia|phenylketonuric embryopathy|maternal PKU|hyperphenylalaninemic embryopathy ICD10:E70.1|GARD:0003413|Orphanet:2209|OMIM:261600 owl:Class HGNC:6638 biolink:NamedThing LMNB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007285 biolink:NamedThing cataract 1 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the GJA8 gene. tmpaxzxjjyw_mondo_relaxed.owl cataract, zonular pulverulent, 1|cataract 1, multiple types|CAE1|GJA8 cataract (disease)|Duffy linked cataract|zonular pulverulent cataract 1|cataract 1, multiple types, with or without microcornea|CTRCT1|cataract, Duffy-linked|CZP1|cataract (disease) caused by mutation in GJA8 UMLS:C1861828|DOID:0110231|Orphanet:98984|Orphanet:91492|ICD10:Q12.0|Orphanet:1377|OMIM:116200|MESH:C566158 owl:Class GO:0060249 biolink:NamedThing anatomical structure homeostasis A homeostatic process involved in the maintenance of an internal steady state within a defined anatomical structure of an organism, including control of cellular proliferation and death and control of metabolic function. An anatomical structure is any biological entity that occupies space and is distinguished from its surroundings. Anatomical structures can be macroscopic such as a carpel, or microscopic such as an acrosome. tmpaxzxjjyw_mondo_relaxed.owl anatomical structure maintenance owl:Class MONDO:0002414 biolink:NamedThing gastric hemangioma A hemangioma arising from the stomach. tmpaxzxjjyw_mondo_relaxed.owl gastric angioma|hemangioma of the stomach|angioma of the stomach|gastric hemangioma|stomach hemangioma|angioma of stomach|hemangioma of stomach DOID:275|NCIT:C5481|UMLS:C1333770 owl:Class HGNC:11875 biolink:NamedThing TMPO tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018962 biolink:NamedThing common mesentery tmpaxzxjjyw_mondo_relaxed.owl universal mesentery UMLS:C0266235|Orphanet:620|ICD10:Q43.3|SCTID:52159006 owl:Class MONDO:0030134 biolink:NamedThing oculopharyngodistal myopathy 2 tmpaxzxjjyw_mondo_relaxed.owl OCULOPHARYNGODISTAL MYOPATHY 2|oculopharyngodistal myopathy 2|OPDM2 OMIM:618940 owl:Class MONDO:0013183 biolink:NamedThing congenital stationary night blindness 1C Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital stationary night blindness 1C autosomal recessive|TRPM1 congenital stationary night blindness|night blindness, congenital stationary, type 1C|congenital stationary night blindness type 1C|CSNB1C|congenital stationary night blindness caused by mutation in TRPM1|CSNB, complete, autosomal recessive|congenital stationary night blindness 1C OMIM:613216|MESH:C567704|DOID:0110867|UMLS:C2750747 owl:Class MONDO:0007759 biolink:NamedThing hyperlipidemia, familial combined, LPL related tmpaxzxjjyw_mondo_relaxed.owl familial combined hyperlipidemia|FCHL|hyperlipidemia, familial combined OMIM:144250 Editor note: the OMIM:144250 entry refers to the LPL-caused form owl:Class ENVO:01001057 biolink:NamedThing environment associated with a plant part or small plant An environmental system determined by part of a living or dead plant, or a whole small plant. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:317865 biolink:NamedThing Rickettsia conorii subsp. indica tmpaxzxjjyw_mondo_relaxed.owl PMID:15766388|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:781 biolink:NamedThing Rickettsia conorii tmpaxzxjjyw_mondo_relaxed.owl PMID:15766388|PMID:15879256|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0100405 biolink:NamedThing acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive Any acute myeloid leukemia that has the chromosomal anomaly Non-KMT2A MLLT10 rearrangement positive. (An indication that a cytogenetic rearrangement involving MLLT10 but not involving KMT2A was detected in a sample.) tmpaxzxjjyw_mondo_relaxed.owl AML, Non-KMT2A MLLT10 rearrangement positive|AML, Non-MLL MLLT10 Rearrangement|AML, Non-KMT2A MLLT10 Rearrangement|AML, Non-MLL MLLT10 Rearrangement Positive NCIT:C168771 owl:Class MONDO:0005077 biolink:NamedThing pertussis A contagious bacterial respiratory infection caused by Bordetella pertussis. It is characterized by severe and uncontrollable cough, resulting in a whooping sound during breathing following the cough. tmpaxzxjjyw_mondo_relaxed.owl Bordetella infection|WC - whooping cough|infection due to Bordetella pertussis|Bordetella pertussis infectious disease|Bordetella pertussis infection|Bordetella pertussis disease or disorder|pertussis|Bordetella pertussis caused disease or disorder|whooping cough ICD9:033.0|KEGG:05133|SCTID:26484003|MedDRA:10034738|NCIT:C85231|EFO:0000650|UMLS:C0043167|MedDRA:10047974|SCTID:27836007|MESH:D014917|ICD10:A37.1|ICD10:A37.0|ICD9:033|Orphanet:1489|ICD10:A37.8|DOID:1116|GARD:0008692|ICD9:033.9|ICD10:A37.9 https://rarediseases.info.nih.gov/diseases/8692/whooping-cough owl:Class MONDO:0019031 biolink:NamedThing thrombocytopenia with congenital dyserythropoietic anemia Thrombocytopenia with congenital dyserythropoietic anemia (CDA) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia. tmpaxzxjjyw_mondo_relaxed.owl congenital dyserythropoietic anemia with thombocytopenia|X-linked congenital dyserythropoietic anemia with thrombocytopenia|XDAT UMLS:C4302508|ICD10:D69.4|OMIM:300367|Orphanet:67044|SCTID:722475006 owl:Class MONDO:0010308 biolink:NamedThing thrombocytopenia, X-linked, with or without dyserythropoietic anemia An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present. tmpaxzxjjyw_mondo_relaxed.owl XLTDA|thrombocytopenia, X-linked, with or without dyserythropoietic anemia|X-linked thrombocytopenia, with or without dyserythropoietic Anemia UMLS:C3550789|NCIT:C136653|OMIM:300367|Orphanet:67044 owl:Class MONDO:0005909 biolink:NamedThing pestivirus infectious disease Infections with viruses of the genus pestivirus, family flaviviridae. tmpaxzxjjyw_mondo_relaxed.owl infections, Pestivirus|Pestivirus disease or disorder|Pestivirus caused disease or disorder|Pestivirus infectious disease|Pestivirus infection|infection, Pestivirus MESH:D018182|UMLS:C0206611|EFO:0007432 owl:Class MONDO:0001383 biolink:NamedThing degenerative myopia Excessive axial myopia associated with complications (especially posterior staphyloma and choroidal neovascularization) that can lead to blindness. tmpaxzxjjyw_mondo_relaxed.owl progressive high myopia|pathological myopia|progressive high (degenerative) myopia|degenerative progressive high myopia EFO:0004207|MESH:D047728|DOID:11829|SCTID:32022003|ICD10:H44.2|UMLS:C0154778|ICD9:360.21 owl:Class UBERON:0009292 biolink:NamedThing embryonic nasal process tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12682 biolink:NamedThing VEGFC tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1902116 biolink:NamedThing negative regulation of organelle assembly Any process that stops, prevents or reduces the frequency, rate or extent of organelle assembly. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of organelle assembly|down regulation of organelle assembly|inhibition of organelle assembly|downregulation of organelle assembly owl:Class UBERON:0010390 biolink:NamedThing lumen of urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035298 biolink:NamedThing tuberculum sellae tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014691 biolink:NamedThing Noonan syndrome 9 Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene. tmpaxzxjjyw_mondo_relaxed.owl Noonan syndrome type 9|SOS2 Noonan syndrome|NS9|Noonan syndrome caused by mutation in SOS2|Noonan syndrome 9 Orphanet:648|DOID:0060587|UMLS:C4225282|OMIM:616559 owl:Class GO:0002711 biolink:NamedThing positive regulation of T cell mediated immunity Any process that activates or increases the frequency, rate, or extent of T cell mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of T-lymphocyte mediated immunity|upregulation of T cell mediated immunity|up regulation of T cell mediated immunity|up-regulation of T cell mediated immunity|activation of T cell mediated immunity|positive regulation of T lymphocyte mediated immunity|positive regulation of T-cell mediated immunity|stimulation of T cell mediated immunity owl:Class MONDO:0009910 biolink:NamedThing Wiedemann-Rautenstrauch syndrome Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl Wiedemann-Rautenstrauch syndrome|progeroid syndrome, neonatal|neonatal progeroid syndrome|progeroid syndrome neonatal|Wiedemann Rautenstrauch syndrome Orphanet:3455|NCIT:C121565|GARD:0000330|MESH:C536423|ICD9:259.8|SCTID:238874008|OMIM:264090|UMLS:C0406586|ICD10:E34.8 owl:Class MONDO:0020732 biolink:NamedThing progeria tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:176670 owl:Class MONDO:0007948 biolink:NamedThing marfanoid hypermobility syndrome tmpaxzxjjyw_mondo_relaxed.owl marfanoid hypermobility syndrome UMLS:C0268365|MESH:C531742|OMIM:154750|GARD:0003387 https://rarediseases.info.nih.gov/diseases/3387/marfanoid-hypermobility-syndrome owl:Class MONDO:0011940 biolink:NamedThing mycobacterium tuberculosis, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl Mycobacterium tuberculosis, susceptibility to infection by|Mycobacterium tuberculosis, protection against|mycobacterium tuberculosis, susceptibility to OMIM:607948|Orphanet:3389|MESH:C536092|GARD:0002456 Editor note: consider merge with parent. This OMIM ID seems to represent the whole series owl:Class UBERON:0003291 biolink:NamedThing meninx of hindbrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032224 biolink:NamedThing positive regulation of synaptic transmission, cholinergic Any process that activates, maintains or increases the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of synaptic transmission, cholinergic|upregulation of synaptic transmission, cholinergic|stimulation of synaptic transmission, cholinergic|up regulation of synaptic transmission, cholinergic|activation of synaptic transmission, cholinergic owl:Class MONDO:0019561 biolink:NamedThing lupus erythematosus panniculitis A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45. tmpaxzxjjyw_mondo_relaxed.owl lupus profundus|lupus panniculitis|lupus erythematosus profundus Orphanet:90285|NCIT:C82884|SCTID:15084002|MESH:D015435|UMLS:C0030327|ICD10:L93.2 owl:Class HGNC:11892 biolink:NamedThing TNF tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10923 biolink:NamedThing SLC16A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010572 biolink:NamedThing occipital horn syndrome Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect. tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, occipital horn type (formerly)|occipital horn syndrome|EDS IX, formerly|Ehlers-Danlos syndrome type 9|Ehlers-Danlos syndrome type IX|EDS IX|Ehlers-Danlos syndrome, occipital horn type, formerly|EDS9, formerly|Ehlers-Danlos syndrome, occipital horn type|X-linked cutis laxa|EDS IX (formerly)|cutis laxa, X-linked|cutis laxa, X-linked, formerly|EDS9|cutis laxa X-linked|OHS OMIM:304150|Orphanet:198|MESH:C537860|GARD:0004017|SCTID:59399004|ICD10:E83.0|DOID:0111272 owl:Class MONDO:0017762 biolink:NamedThing disorder of copper metabolism An acquired metabolic disease that is has its basis in the disruption of cellular copper ion homeostasis. tmpaxzxjjyw_mondo_relaxed.owl inborn error of cellular copper ion homeostasis|rare inborn error of cellular copper ion homeostasis|copper Transport disorders|inborn cellular copper ion homeostasis disorder UMLS:C0012714|MedDRA:10061091|Orphanet:309839|SCTID:79886009|UMLS:CN043585|ICD9:275.1|ICD10:E83.0 owl:Class MONDO:0000212 biolink:NamedThing hypercalcemia, infantile A hypercalcemia disease that occurs between 28 days to one year of life.. tmpaxzxjjyw_mondo_relaxed.owl hypercalcemia, infantile|hypercalcemia disease of infancy|familial infantile hypercalcemia with suppressed intact parathyroid hormone|autosomal recessive infantile hypercalcemia|autosomal recessive hypercalcemia, infantile|idiopathic infantile hypercalcemia|hypercalcemia, infantile, autosomal recessive|infantile hypercalcemia disease|infantile onset hypercalcemia disease|hypercalcemia, idiopathic, of infancy|infantile hypercalcemia SCTID:34225008|ICD10:E83.5|OMIM:616963|Orphanet:300547|UMLS:C4329374|OMIM:143880|OMIMPS:143880|NCIT:C129734|MESH:C562999|UMLS:CN203398|SCTID:276645004 owl:Class MONDO:0010424 biolink:NamedThing surfactant metabolism dysfunction, pulmonary, 4 tmpaxzxjjyw_mondo_relaxed.owl Csf2Ra deficiency|Pap due to Csf2Ra deficiency|surfactant metabolism dysfunction, pulmonary, type 4|surfactant metabolism dysfunction, pulmonary, 4|pulmonary alveolar proteinosis, congenital, 4|SMDP4 Orphanet:264675|MESH:C567461|OMIM:300770|UMLS:C2677877 owl:Class MONDO:0018644 biolink:NamedThing autosomal dominant complex spastic paraplegia type 9B tmpaxzxjjyw_mondo_relaxed.owl AD-SPG9B ICD10:G11.4|UMLS:CN237702|Orphanet:447757 Editor note: check this owl:Class MONDO:0001858 biolink:NamedThing Tietze syndrome Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease. tmpaxzxjjyw_mondo_relaxed.owl Chondropathia tuberosa|Costalchondritis|costochondral joint syndromic disease|costochondral junction syndrome|Costochondritis|slipping rib syndrome|Tietze syndrome|syndromic disease of costochondral joint|Tietze's syndrome|Tietze's disease NCIT:C168333|SCTID:30128009|MESH:D013991|GARD:0010100|DOID:14021|UMLS:C0040213|ICD10:M94.0|ICD9:733.6 owl:Class CL:0000790 biolink:NamedThing immature alpha-beta T cell An alpha-beta T cell that has an immature phenotype and has not completed T cell selection. tmpaxzxjjyw_mondo_relaxed.owl immature alpha-beta T lymphocyte|immature alpha-beta T-lymphocyte|immature alpha-beta T-cell cell owl:Class UBERON:0009856 biolink:NamedThing sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017896 biolink:NamedThing familial nonmedullary thyroid carcinoma Familial nonmedullary thyroid carcinoma (fNMTC) is a rare non-syndromic form of thyroid cancer characterized by occurrence of thyroid carcinoma (TC) as the primary feature in a familial setting. tmpaxzxjjyw_mondo_relaxed.owl thyroid cancer, nonmedullary ICD10:C73|UMLS:CN227216|Orphanet:319494|UMLS:C3501843|OMIMPS:188550 Note the OMIM phenotypic series lacks a member classified by ORDO owl:Class MONDO:0030603 biolink:NamedThing Klebsiella infectious disease Infections with bacteria of the genus KLEBSIELLA. tmpaxzxjjyw_mondo_relaxed.owl infection, Klebsiella|infections, Klebsiella|Klebsiella disease or disorder|Klebsiella caused disease or disorder|Klebsiella infection MESH:D007710|GARD:0010085|SCTID:721756002|EFO:1001353 owl:Class MONDO:0008283 biolink:NamedThing Cronkhite-Canada syndrome Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation. tmpaxzxjjyw_mondo_relaxed.owl gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|Cronkhite-Canada disease|gastric Cronkhite Canada polyposis|polyposis, skin pigmentation, alopecia, and fingernail changes|polyposis skin pigmentation alopecia fingernail changes|Cronkhite-Canada syndrome|gastrointestinal polyposis-ectodermal changes syndrome Orphanet:2930|NCIT:C7035|ICD10:D12.6|MedDRA:10062907|SCTID:76304001|OMIM:175500|GARD:0004427|DOID:6225|MESH:D044483|UMLS:C0282207 https://rarediseases.info.nih.gov/diseases/4427/cronkhite-canada-disease owl:Class UBERON:0006535 biolink:NamedThing skin secretion tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:10278 biolink:NamedThing Molluscipoxvirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0008436 biolink:NamedThing thoracic vertebral arch tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013915 biolink:NamedThing hypogonadotropic hypogonadism 13 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1 gene. tmpaxzxjjyw_mondo_relaxed.owl KISS1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 13 with or without anosmia|HH13|hypogonadotropic hypogonadism caused by mutation in KISS1 ICD10:E23.0|OMIM:614842|DOID:0090073|UMLS:C3541462 owl:Class MONDO:0043003 biolink:NamedThing familial acanthosis nigricans An instance of acanthosis nigricans (disease) that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary acanthosis nigricans (disease)|acanthosis nigricans OMIM:100600|UMLS:C0000889|MESH:C531598|UMLS:C2930792 owl:Class MONDO:0007035 biolink:NamedThing acanthosis nigricans A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy. tmpaxzxjjyw_mondo_relaxed.owl keratosis nigricans|acanthosis nigricans (disease)|an - acanthosis nigricans|acanthosis nigricans acanthosis nigricans (disease) NCIT:C26687|Wikipedia:Acanthosis_nigricans|HP:0000956|DOID:3138|Orphanet:924|UMLS:C0000889|ICD10:L83|EFO:1000660|OMIM:200170|SCTID:402599005|MESH:D000052 owl:Class CL:2000021 biolink:NamedThing sebaceous gland cell Any native cell that is part of a sebaceous gland. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-24T23:17:00Z cell owl:Class MONDO:0014263 biolink:NamedThing 8q24.3 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl chromosome 8Q24.3 deletion syndrome|Verheij syndrome|VRJS GARD:0012814|OMIM:615583|UMLS:C3810023|Orphanet:508488 owl:Class MONDO:0016907 biolink:NamedThing partial deletion of the long arm of chromosome 8 Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 8q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 8q|monosomy 8q|partial monosomy 8q|partial deletion of the long arm of chromosome type 8|8q deletion|8q monosomy|chromosome 8q deletion|partial deletion of chromosome 8q|deletion 8q|partial monosomy of the long arm of chromosome 8 MESH:C537828|UMLS:C0795828|GARD:0003770|ICD10:Q93.5|Orphanet:262065 owl:Class MONDO:0019814 biolink:NamedThing straddling or overriding tricuspid valve Straddling or overriding tricuspid valve is a rare, congenital, tricuspid valve malformation characterized by the tricuspid valve that overrides the ventricular septum and communicates with both ventricles, as part of the tension apparatus of the valve crosses the ventricular septal defect and is attached in the left ventricle. The anomaly occurs with other congenital heart defects (transposition of great vessels, left ventricle outflow tract obstruction, double outlet right ventricle, hypoplastic right ventricle), which determine the main clinical manifestation. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q22.8|Orphanet:95461 owl:Class HGNC:11133 biolink:NamedThing SNAP29 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0003824 biolink:NamedThing catalytic activity Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. tmpaxzxjjyw_mondo_relaxed.owl enzyme activity owl:Class HP:0000927 biolink:NamedThing Abnormality of skeletal maturation The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of skeletal maturation UMLS:C4025818 human_phenotype owl:Class MONDO:0013530 biolink:NamedThing atrial fibrillation, familial, 10 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN5A gene. tmpaxzxjjyw_mondo_relaxed.owl atrial fibrillation, familial, type 10|atrial fibrillation, familial, 10|SCN5A familial atrial fibrillation|ATFB10|familial atrial fibrillation caused by mutation in SCN5A OMIM:614022|Orphanet:334|UMLS:C3151464 owl:Class MONDO:0018054 biolink:NamedThing familial atrial fibrillation An autosomal dominant heart condition that causes disruptions in the heart's normal rhythm. This condition is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular. tmpaxzxjjyw_mondo_relaxed.owl atrial fibrillation, familial|hereditary atrial fibrillation (disease)|ATFB|autosomal dominant atrial fibrillation|atrial fibrillation autosomal dominant OMIMPS:608583|SCTID:715395008|ICD10:I48.9|OMIM:608583|OMIM:614050|OMIM:607554|OMIM:611819|OMIM:612201|OMIM:611494|DOID:0050650|OMIM:611493|OMIM:614049|OMIM:613980|OMIM:613055|OMIM:615770|OMIM:615378|OMIM:608988|OMIM:614022|GARD:0009740|Orphanet:334|OMIM:615377|UMLS:CN204347|OMIM:612240|OMIM:613120 Editor note: DO def states this as being in ATFB but this is not correct owl:Class UBERON:0003837 biolink:NamedThing thoracic segment connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020779 biolink:NamedThing cartilage development disorder Any dysfunction in the growth of cartilage. tmpaxzxjjyw_mondo_relaxed.owl Congenital anomaly of cartilage|abnormal development of cartilage|chondrodystrophy|cartilage development disorder NCIT:C34466|SCTID:67988000|ICD9:756.4|UMLS:C0008449|ICD9:756.9 owl:Class MONDO:0017202 biolink:NamedThing acute endophthalmitis Acute form of endophthalmitis. tmpaxzxjjyw_mondo_relaxed.owl endophthalmitis, acute ICD9:360.01|Orphanet:279888|UMLS:C0154773|ICD10:H44.1|SCTID:1493002|DOID:11752|ICD10:H44.0|MedDRA:10000730 owl:Class MONDO:0006140 biolink:NamedThing cervical mucinous adenocarcinoma, minimal deviation variant A rare, extremely well differentiated cervical mucinous adenocarcinoma in which most of the neoplastic glands cannot be distinguished from the normal endocervical glands. tmpaxzxjjyw_mondo_relaxed.owl cervical adenoma malignum|cervical mucinous adenocarcinoma, minimal deviation variant|cervical mucinous adenocarcinoma, minimal deviation type UMLS:C1516423|DOID:6627|NCIT:C40206|EFO:1000169 owl:Class MONDO:0002742 biolink:NamedThing cervical mucinous adenocarcinoma A usually well to moderately differentiated cervical adenocarcinoma characterized by the presence of malignant glandular cells that contain significant amount of intracytoplasmic mucin. tmpaxzxjjyw_mondo_relaxed.owl uterine cervix mucinous adenocarcinoma|cervical mucinous adenocarcinoma DOID:3701|UMLS:C1332919|NCIT:C36095 owl:Class MONDO:0015279 biolink:NamedThing chronic mucocutaneous candidiasis tmpaxzxjjyw_mondo_relaxed.owl familial CMC|chronic mucocutaneous candidiasis (disease)|chronic mucocutaneous candidiasis|familial chronic mucocutaneous candidiasis|CMC|CANDF|familial candidiasis chronic mucocutaneous candidiasis (disease) SCTID:234568006|NCIT:C34444|OMIM:252250|OMIM:212050|MESH:D002178|ICD10:B37.2|OMIM:615527|UMLS:C0006845|OMIM:614162|DOID:2058|OMIM:613953|OMIMPS:114580|Orphanet:1334|OMIM:114580|OMIM:613956|OMIM:613108|OMIM:607644|OMIM:616445|MedDRA:10009007|HP:0002728|OMIM:247650 owl:Class MONDO:0054737 biolink:NamedThing Fraser syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl cryptophthalmos-syndactyly syndrome|cryptophthalmos with Other malformations|Fraser syndrome|Fraser syndrome 1|FRASRS1 DOID:0111405|OMIM:219000 owl:Class MONDO:0009046 biolink:NamedThing Fraser syndrome Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly. tmpaxzxjjyw_mondo_relaxed.owl cryptophthalmos with Other malformations|cryptophthalmos-syndactyly syndrome|Ulrich-Feichtiger syndrome|Fraser-Francois syndrome|Fraser syndrome|cryptophthalmos with other malformations|cryptophthalmos syndrome|Meyer-Schwickerath's syndrome|cyclopism DOID:0090001|OMIMPS:219000|UMLS:C0265233|MESH:D058497|GARD:0006465|SCTID:204102004|Orphanet:2052|NCIT:C118436|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/6465/fraser-syndrome owl:Class MONDO:0001079 biolink:NamedThing pancreatic steatorrhea tmpaxzxjjyw_mondo_relaxed.owl pancreatic steatorrhoea DOID:10610|SCTID:54576000|ICD10:K90.3|UMLS:C0152166|ICD9:579.4 Editor note: consider obsoleting owl:Class MONDO:0008542 biolink:NamedThing tetralogy of fallot Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. tmpaxzxjjyw_mondo_relaxed.owl tetralogy of FALLOT|ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle|tetralogy of fallot|Fallot tetralogy|TOF GARD:0002245|OMIM:187500|ICD9:745.2|ICD10:Q21.3|Orphanet:3303|SCTID:86299006|MedDRA:10016193|UMLS:C0039685|MESH:D013771|NCIT:C84505|DOID:6419 https://rarediseases.info.nih.gov/diseases/2245/tetralogy-of-fallot owl:Class MONDO:0015614 biolink:NamedThing dermatitis herpetiformis Dermatitis herpetiformis (DH) is a chronic autoimmune subepidermal bullous disease characterized by grouped pruritic lesions such as papules, urticarial plaques, erythema, and herpetiform vesiculae, with a predominantly symmetrical distribution on extensor surfaces of the elbows (90%), knees (30%), shoulders, buttocks, sacral region, and face of children and adults. Erosions, excoriations and hyperpigmentation usually follow. DH may also appear as a consequence of gluten intolerance. tmpaxzxjjyw_mondo_relaxed.owl Duhring's disease|Durhing-Brocq disease|dermatosis herpetiformis|dermatitis herpetiformis Orphanet:1656|DOID:8505|OMIM:601230|UMLS:C0011608|SCTID:111196000|Wikipedia:Dermatitis_herpetiformis|EFO:1000684|ICD9:694.0|MedDRA:10012468|ICD10:L13.0|NCIT:C26742|MESH:D003874 owl:Class UBERON:0006834 biolink:NamedThing uterus or analog tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043470 biolink:NamedThing regulation of carbohydrate catabolic process Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017805 biolink:NamedThing intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:314575|UMLS:CN203768 owl:Class MONDO:0100239 biolink:NamedThing inherited hypertrophic pyloric stenosis An instance of hypertrophic pyloric stenosis that is inherited. tmpaxzxjjyw_mondo_relaxed.owl hereditary hypertrophic pyloric stenosis OMIM:610260|OMIM:300711|OMIMPS:179010|OMIM:612525|OMIM:612017|OMIM:179010 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0003606 biolink:NamedThing limb long bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005780 biolink:NamedThing hantavirus infectious disease Any infection caused by a virus of the genus Hantavirus, which is transmitted by aerosolized rodent excreta or rodent bites, that can result in a variety of clinical manifestations from hemorrhagic fever with renal syndrome to a pulmonary syndrome. tmpaxzxjjyw_mondo_relaxed.owl infections, Hantavirus|Hantavirus caused disease or disorder|disease caused by hantavirus|Hantavirus infection|Hantavirus disease or disorder|disease due to hantavirus|Hantavirus infectious disease UMLS:C0242994|EFO:0007295|MESH:D018778|SCTID:359761005|NCIT:C3899|ICD9:079.81 MONDO:0042492 owl:Class MONDO:0003360 biolink:NamedThing small intestine leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the small intestine. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of small intestine|small intestinal leiomyosarcoma|small bowel leiomyosarcoma|leiomyosarcoma of the small bowel|leiomyosarcoma of the small intestine|small intestine leiomyosarcoma|smooth muscle connective tissue tumor|leiomyosarcoma of small bowel Orphanet:104076|ICD10:C17.1|ICD10:C17.8|ICD10:C17.0|DOID:5271|ICD10:C17.2|SCTID:716651004|ICD10:C17.3|NCIT:C7085|UMLS:C0920305 owl:Class MONDO:0002332 biolink:NamedThing splenic disorder A disease involving the spleen. tmpaxzxjjyw_mondo_relaxed.owl spleen disease or disorder|splenic disorder|disease of spleen|disease or disorder of spleen|disorder of spleen|Dyssplenism|spleen disorder|spleen disease|splenic disease EFO:0009002|NCIT:C35823|DOID:2529|ICD10:D73.9|SCTID:58381000|MESH:D013158|ICD9:289.50|UMLS:C0037997|ICD10:D73|SCTID:51244008 owl:Class MONDO:0001673 biolink:NamedThing diarrheal disease The condition of having at least three loose or liquid bowel movements each day. tmpaxzxjjyw_mondo_relaxed.owl diarrheal disorder|diarrhoea|frequent stools|loose stools|diarrhea of presumed infectious origin|diarrhea|diarrheal disease ICD9:009.2|NCIT:C2987|MESH:D003967|HP:0002014|DOID:13250|SCTID:128333008 owl:Class MONDO:0017619 biolink:NamedThing congenital sucrase-isomaltase deficiency with minimal starch tolerance tmpaxzxjjyw_mondo_relaxed.owl congenital sucrase-isomaltose malabsorption with minimal starch tolerance|congenital sucrose intolerance with minimal starch tolerance|CSID with minimal starch tolerance|disaccharide intolerance with minimal starch tolerance ICD10:E74.3|Orphanet:306446 owl:Class UBERON:0010186 biolink:NamedThing male urethral gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010747 biolink:NamedThing X-linked dystonia-parkinsonism X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder characterized by adult-onset parkinsonism that is frequently accompanied by focal dystonia, which becomes generalized over time, and that has a highly variable clinical course. tmpaxzxjjyw_mondo_relaxed.owl DYT3|X-linked torsion dystonia-Parkinsonism syndrome|Lubag|dystonia 3, torsion, X-linked|X-linked dystonia Parkinsonism|dystonia-Parkinsonism, X-linked|XDP|X-linked dystonia-parkinsonism/Lubag|X-linked dystonia-Parkinsonism syndrome|Lubag syndrome|DYT-TAF1|torsion dystonia-Parkinsonism, Filipino type ICD10:G24.1|DOID:0090057|UMLS:C1839130|SCTID:698279003|Orphanet:53351|OMIM:314250|NCIT:C126330|GARD:0010533|MESH:C564048 owl:Class UBERON:0016517 biolink:NamedThing lumen of jejunum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013776 biolink:NamedThing skin of palmar/plantar part of autopod tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012114 biolink:NamedThing Ehlers-Danlos syndrome, Beasley-Cohen type tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, Beasley-Cohen type|Ehlers-Danlos syndrome with intellectual disability, deafness, and cataract|Ehlers-Danlos syndrome with mental retardation, deafness, and cataract MESH:C536199|OMIM:608763|UMLS:C1837462 owl:Class HGNC:12269 biolink:NamedThing TREX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011297 biolink:NamedThing autosomal dominant nocturnal frontal lobe epilepsy 2 An autosomal dominant nocturnal frontal lobe epilepsy that has material basis in variation in the chromosome region 15q24. tmpaxzxjjyw_mondo_relaxed.owl epilepsy, nocturnal frontal lobe, 2|nocturnal frontal lobe epilepsy 2|autosomal dominant nocturnal frontal lobe epilepsy type 2|ENFL2 MESH:C566400|UMLS:C1864125|OMIM:603204|Orphanet:98784|DOID:0060683 owl:Class MONDO:0032920 biolink:NamedThing juvenile arthritis due to defect in LACC1 tmpaxzxjjyw_mondo_relaxed.owl JUVAR|JUVENILE ARTHRITIS OMIM:618795 owl:Class PATO:0000025 biolink:NamedThing composition A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts. tmpaxzxjjyw_mondo_relaxed.owl composed of|content|structure, composition|compositionality owl:Class GO:0046320 biolink:NamedThing regulation of fatty acid oxidation Any process that modulates the frequency, rate or extent of fatty acid oxidation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2805591 biolink:NamedThing Tropherymataceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class GO:0034622 biolink:NamedThing cellular protein-containing complex assembly The aggregation, arrangement and bonding together of a set of components to form a protein complex, occurring at the level of an individual cell. tmpaxzxjjyw_mondo_relaxed.owl cellular macromolecule complex assembly|cellular protein complex assembly owl:Class MONDO:0007406 biolink:NamedThing cryofibrinogenemia, familial primary tmpaxzxjjyw_mondo_relaxed.owl cryofibrinogenemia, familial primary OMIM:123540|UMLS:C1852457|MESH:C565142 owl:Class NCBITaxon:1783272 biolink:NamedThing Terrabacteria group tmpaxzxjjyw_mondo_relaxed.owl PMID:23851394|GC_ID:11|PMID:18988685 ncbi_taxonomy owl:Class MONDO:0016340 biolink:NamedThing familial restrictive cardiomyopathy An instance of restrictive cardiomyopathy that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary restrictive cardiomyopathy SCTID:233878008|OMIMPS:115210|Orphanet:217635|ICD9:425.4 owl:Class CHEBI:83812 biolink:NamedThing non-proteinogenic amino acid derivative Any derivative of a non-proteinogenic amino acid resulting from reaction at an amino group or carboxy group, or from the replacement of any hydrogen by a heteroatom. tmpaxzxjjyw_mondo_relaxed.owl non-canonical amino acid derivative|non-canonical amino-acid derivatives|non-proteinogenic amino-acid derivatives owl:Class CHEBI:83821 biolink:NamedThing amino acid derivative Any derivative of an amino acid resulting from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing amino acid residues. tmpaxzxjjyw_mondo_relaxed.owl modified amino acids|amino acid derivatives owl:Class UBERON:0003359 biolink:NamedThing epithelium of submandibular gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016194 biolink:NamedThing qualitative or quantitative defects of nebulin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209182 owl:Class HGNC:11153 biolink:NamedThing SNRPB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002752 biolink:NamedThing ovarian adenocarcinoma An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of the ovary|adenocarcinoma of ovary|ovary adenocarcinoma|ovarian adenocarcinoma Orphanet:213504|NCIT:C7700|EFO:0006460|DOID:3713|MedDRA:10051938|ICD10:C56 owl:Class MONDO:0002651 biolink:NamedThing anal Paget disease A slowly spreading, erythematous eczematoid plaque in the anal region. Histologically, the basal part or whole thickness of the squamous epithelium is infiltrated by large cells with abundant pale cytoplasm and large nuclei. Half of the cases are associated with an internal malignancy, most often a colorectal adenocarcinoma. The other half of the cases, have a high local recurrence rate and they may become invasive (WHO). tmpaxzxjjyw_mondo_relaxed.owl Paget's disease of anus|anus mammary Paget's disease|Paget disease of the anus|Paget's disease of the anus|anus Paget disease|anal Paget disease|anal Paget's disease NCIT:C5598|UMLS:C1332274|DOID:3446 owl:Class MONDO:0005007 biolink:NamedThing colon mucinous adenocarcinoma An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. tmpaxzxjjyw_mondo_relaxed.owl colloid adenocarcinoma of the colon|colon colloid adenocarcinoma|colonic mucinous adenocarcinoma|colloid colon adenocarcinoma|colonic colloid adenocarcinoma|colon mucinous adenocarcinoma|colloidal adenocarcinoma of colon|colonic colloidal adenocarcinoma|colloidal adenocarcinoma of the colon|mucinous colon adenocarcinoma|colon colloidal adenocarcinoma|colloid adenocarcinoma of colon|mucinous adenocarcinoma of colon|colloidal colon adenocarcinoma|mucinous adenocarcinoma of the colon NCIT:C7966|DOID:3029|UMLS:C0279639|EFO:0000364 owl:Class MONDO:0014135 biolink:NamedThing pulmonary hypertension, primary, 3 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene. tmpaxzxjjyw_mondo_relaxed.owl CAV1 primary pulmonary hypertension|primary pulmonary hypertension caused by mutation in CAV1|pulmonary hypertension, primary, type 3|PPH3|pulmonary hypertension, primary, 3 UMLS:C3809192|Orphanet:422|OMIM:615343 owl:Class MONDO:0017148 biolink:NamedThing heritable pulmonary arterial hypertension Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal. tmpaxzxjjyw_mondo_relaxed.owl FPAH|HpaH|hereditary pulmonary arterial hypertension|familial pulmonary arterial hypertension NCIT:C121945|SCTID:697897003|UMLS:CN202575|Orphanet:275777|ICD10:I27.0|OMIMPS:178600 owl:Class UBERON:0010192 biolink:NamedThing genital artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6218 biolink:NamedThing KCNA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009008 biolink:NamedThing heart defect - tongue hamartoma - polysyndactyly syndrome tmpaxzxjjyw_mondo_relaxed.owl Ostravik-Lindemann-Solberg syndrome|CHDTHP|heart defect, tongue hamartoma and polysyndactyly|heart defect - tongue hamartoma - polysyndactyly syndrome|congenital heart defects, hamartomas of tongue, and polysyndactyly|Orstavik Lindemann Solberg syndrome GARD:0002612|DOID:0111591|MESH:C535849|Orphanet:1338|ICD10:Q87.8|OMIM:217085|UMLS:C2931046|GARD:0004166 owl:Class MONDO:0015719 biolink:NamedThing severe hemophilia A Severe hemophilia A is a form of hemophilia A characterized by a large deficiency of factor VIII leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpaxzxjjyw_mondo_relaxed.owl severe factor VIII deficiency|severe hemophilia type A SCTID:16872008|ICD10:D66|Orphanet:169802|UMLS:C0272322 owl:Class MONDO:0015796 biolink:NamedThing acute lung injury A condition of lung damage that is characterized by bilateral pulmonary infiltrates (pulmonary edema) rich in neutrophils, and in the absence of clinical heart failure. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological). tmpaxzxjjyw_mondo_relaxed.owl EFO:0004610|Orphanet:178320|MESH:D055371|NCIT:C155766|SCTID:315345002|MedDRA:10069351 owl:Class MONDO:0043789 biolink:NamedThing serum sickness Delayed-type hypersensitivity reaction to foreign proteins derived from an animal serum. It occurs approximately six to twenty one days following the administration of the foreign antigen. Symptoms include fever, arthralgias, myalgias, skin eruptions, lymphadenopathy, chest pain, and dyspnea. Certain drugs (e.g., antibiotics, anticancer agents, and anti-inflammatory medications) and infectious disorders (e.g., hepatitis B) may also cause serum sickness-like reaction. tmpaxzxjjyw_mondo_relaxed.owl sickness, serum|serum sickness|protein sickness|serum reaction|transfusion reaction due to serum protein reaction|Sicknesses, serum|intoxication by serum|serum Sicknesses EFO:1001845|UMLS:C0036830|NCIT:C79718|SCTID:72284000|MESH:D012713 owl:Class MONDO:0007052 biolink:NamedThing growth hormone secreting pituitary adenoma 1 tmpaxzxjjyw_mondo_relaxed.owl pituitary adenoma, growth hormone-secreting, type 1|PITA1|somatotropinoma, familial isolated|pituitary adenoma 1, multiple types|pituitary adenoma, growth hormone-secreting, 1|pituitary adenoma, familial isolated|Somatotrophinoma, familial|PAGH1|acromegaly due to pituitary adenoma 1|isolated familial somatotropinoma|familial isolated pituitary adenoma syndrome|pituitary adenoma predisposition Orphanet:96256|Orphanet:99725|GARD:0010959|Orphanet:314777|Orphanet:963|OMIM:102200 Editor note: consider splitting OMIM owl:Class NCIT:C35867 biolink:NamedThing Morphologic Finding tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C83490 biolink:NamedThing Microscopic Finding tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044727 biolink:NamedThing pancreatic carcinoma with mixed differentiation A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss. tmpaxzxjjyw_mondo_relaxed.owl mixed exocrine-endocrine carcinoma of the pancreas|pancreatic carcinoma with mixed differentiation|MiNEN of pancreas|pancreatic MiNEN|pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm|mixed neuroendocrine-nonneuroendocrine neoplasm of pancreas NCIT:C45843|UMLS:C1709050|Orphanet:506112 owl:Class HP:0000223 biolink:NamedThing Abnormality of taste sensation tmpaxzxjjyw_mondo_relaxed.owl Abnormality of taste sensation UMLS:C4025879 human_phenotype owl:Class HP:0030810 biolink:NamedThing Abnormal tongue physiology Any functional anomaly of the tongue. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4280754 human_phenotype owl:Class HGNC:3700 biolink:NamedThing FH tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0002062 biolink:NamedThing physical quality of a process tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001344 biolink:NamedThing epithelium of vagina tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004804 biolink:NamedThing oviduct epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046173 biolink:NamedThing polyol biosynthetic process The chemical reactions and pathways resulting in the formation of a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms. tmpaxzxjjyw_mondo_relaxed.owl polyhydric alcohol biosynthetic process|polyol synthesis|polyol formation|polyol anabolism|polyol biosynthesis owl:Class MONDO:0007219 biolink:NamedThing brachydactyly type A6 Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, type A6|OSEBOLD-Remondini syndrome|Osebold-Remondini syndrome|Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities|brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities|BDA6 Orphanet:93382|UMLS:C1862130|ICD10:Q73.8|MESH:C537092|DOID:0110968|SCTID:715722003|GARD:0000983|OMIM:112910 https://rarediseases.info.nih.gov/diseases/983/brachydactyly-type-a6 owl:Class MONDO:0011604 biolink:NamedThing spondylo-ocular syndrome Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows. tmpaxzxjjyw_mondo_relaxed.owl SOS|spondyloocular syndrome SCTID:715653007|ICD10:Q87.5|Orphanet:85194|OMIM:605822 owl:Class CL:1001588 biolink:NamedThing colon glandular cell Glandular cell of colon epithelium. Example: Goblet cells; enterocytes or absorptive cells; enteroendocrine and M cells. tmpaxzxjjyw_mondo_relaxed.owl colon glandular cells CALOHA:TS-1274 owl:Class GO:1901706 biolink:NamedThing mesenchymal cell differentiation involved in bone development The process in which relatively unspecialized cells acquire specialized structural and/or functional features that characterize the mesenchymal cells of bone as it progresses from its formation to the mature state. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048762 biolink:NamedThing mesenchymal cell differentiation The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012261 biolink:NamedThing autism, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl autism, susceptibility to, 6|AUTS6 OMIM:609378|UMLS:C1836271 owl:Class CL:0000906 biolink:NamedThing activated CD8-positive, alpha-beta T cell A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, CD25-positive, and CCR7-negative. tmpaxzxjjyw_mondo_relaxed.owl activated CD8-positive, alpha-beta T-lymphocyte|activated CD8-positive, alpha-beta T-cell|activated CD8-positive, alpha-beta T lymphocyte cell owl:Class MONDO:0003422 biolink:NamedThing lung adenoma A benign, well circumscribed epithelial neoplasm that arises from the bronchus or the lung parenchyma. Representative examples include alveolar adenoma, papillary adenoma, and mucus gland adenoma. tmpaxzxjjyw_mondo_relaxed.owl pulmonary adenoma|lung adenoma|adenoma of lung|adenoma of the lung SCTID:254642004|UMLS:C0345964|NCIT:C4455|DOID:5386 owl:Class NCBITaxon:135623 biolink:NamedThing Vibrionales tmpaxzxjjyw_mondo_relaxed.owl Vibrionaceae group|'Vibrionales' GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:1236 biolink:NamedThing Gammaproteobacteria tmpaxzxjjyw_mondo_relaxed.owl gamma proteobacteria|Proteobacteria gamma subdivision|gamma subgroup|g-proteobacteria|Purple bacteria, gamma subdivision|gamma subdivision PMID:16280474|PMID:23334881|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0033311 biolink:NamedThing Joubert syndrome 33 tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome 33|JBTS33 UMLS:CN601375|DOID:0080279|OMIM:617767 owl:Class MONDO:0004880 biolink:NamedThing bowel dysfunction Any disease in which the causes of the disease is a perturbation of the lower digestive tract leading to its dysfunction. tmpaxzxjjyw_mondo_relaxed.owl disease of lower digestive tract|lower digestive tract disease UMLS:C2004461|DOID:9779|SCTID:235594008|ICD9:564.9|ICD10:K59.9 owl:Class MONDO:0017969 biolink:NamedThing 46,XY disorder of sex development of endocrine origin tmpaxzxjjyw_mondo_relaxed.owl 46,XY DSD of endocrine origin UMLS:CN227232|Orphanet:325351 owl:Class MONDO:0018708 biolink:NamedThing squamous cell carcinoma of the oral tongue tmpaxzxjjyw_mondo_relaxed.owl OTSCC|oral tongue squamous cell carcinoma ICD10:C02.2|Orphanet:457252|ICD10:C02.8|ICD10:C02.0|ICD10:C02.1|ICD10:C02.4|UMLS:CN242132|ICD10:C02.3 owl:Class MONDO:0005098 biolink:NamedThing stroke disorder A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. tmpaxzxjjyw_mondo_relaxed.owl stroke syndrome|stroke|syndrome, stroke|CVA, cerebrovascular accident|CVA|cerebrovascular accident|cerebral infarction|undetermined stroke|cerebrovascular accident, (CVA) OMIM:601367|HP:0001297|EFO:0000712|MESH:D020521|NCIT:C3390|NIFSTD:birnlex_12783|SCTID:230690007 Stroke includes two main types, hemorrhagic and ischemic. Both types of stroke can cause acute seizures at the time of the acute event, as well as epilepsy as a long-term complication. In the elderly, cerebrovascular disease and stroke are the most common cause of acute seizures and epilepsy. owl:Class GO:0002441 biolink:NamedThing histamine secretion involved in inflammatory response The regulated release of histamine by a cell as part of an inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl histamine secretion involved in acute inflammatory response owl:Class MONDO:0015848 biolink:NamedThing septate vagina tmpaxzxjjyw_mondo_relaxed.owl Orphanet:180154|ICD10:Q52.1|HP:0001153|ICD9:752.49|SCTID:47054003 Editor note: consider ceding this and subclasses to HPO owl:Class GO:0045259 biolink:NamedThing proton-transporting ATP synthase complex A proton-transporting two-sector ATPase complex that catalyzes the phosphorylation of ADP to ATP during oxidative phosphorylation. The complex comprises a membrane sector (F0) that carries out proton transport and a cytoplasmic compartment sector (F1) that catalyzes ATP synthesis by a rotational mechanism; the extramembrane sector (containing 3 a and 3 b subunits) is connected via the d-subunit to the membrane sector by several smaller subunits. Within this complex, the g and e subunits and the 9-12 c subunits rotate by consecutive 120 degree angles and perform parts of ATP synthesis. This movement is driven by the hydrogen ion electrochemical potential gradient. tmpaxzxjjyw_mondo_relaxed.owl hydrogen-transporting ATP synthase complex|hydrogen-translocating F-type ATPase complex|proton-transporting F-type ATPase complex|F1-F0 complex owl:Class HP:0011895 biolink:NamedThing Anemia due to reduced life span of red cells A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days. tmpaxzxjjyw_mondo_relaxed.owl Anaemia due to reduced life span of red cells UMLS:C4021112 peter 2012-06-03T09:26:17Z human_phenotype owl:Class HGNC:29673 biolink:NamedThing MFAP5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000632 biolink:NamedThing uterine benign neoplasm A non-metastasizing neoplasm that arises from the uterine corpus or the cervix. Representative examples include leiomyoma, adenomyoma, and endocervical polyp. tmpaxzxjjyw_mondo_relaxed.owl benign uterus neoplasms|benign uterus tumor|benign neoplasm of the uterus|benign uterine neoplasms|benign uterine tumor|benign uterine tumors|uterus benign neoplasm|uterine tumors, benign|Uterous neoplasms, benign|Uterous tumors, benign|uterine neoplasms, benign|benign tumor of the uterus|benign uterus tumors|benign uterus neoplasm|benign uterine neoplasm|benign neoplasm of uterus|benign tumor of uterus DOID:0060095|SCTID:92470003|UMLS:C0153999|NCIT:C3609|ICD9:219.8|ICD9:219.9 owl:Class MONDO:0007859 biolink:NamedThing palmoplantar keratoderma i, striate, focal, or diffuse tmpaxzxjjyw_mondo_relaxed.owl SPPK1|palmoplantar keratoderma i, striate, focal, or diffuse|palmoplantar keratoderma I, striate, focal, or diffuse|striate palmoplantar keratoderma 1|keratosis palmoplantaris striata 1|keratoderma, palmoplantar, striate form 1|PPKS1|keratoderma, palmoplantar striate form 1 Orphanet:50942|Orphanet:370002|Orphanet:369999|GARD:0009172|OMIM:148700|MESH:C536162 https://github.com/monarch-initiative/mondo/issues/3108 owl:Class MONDO:0019272 biolink:NamedThing hereditary palmoplantar keratoderma An instance of palmoplantar keratosis that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary keratosis palmoplantaris|hereditary PPK|hereditary palmoplantar keratosis|hereditary palmoplantar hyperkeratosis ICD9:757.39|SCTID:239066003|ICD10:Q82.8|Orphanet:79357 owl:Class CL:0002199 biolink:NamedThing oxyphil cell of parathyroid gland An oncocyte located in the parathyroid gland. tmpaxzxjjyw_mondo_relaxed.owl FMA:69084 tmeehan 2010-09-02T11:33:23Z cell owl:Class CL:0002260 biolink:NamedThing epithelial cell of parathyroid gland An epithelial cell of the parathyroid gland. tmpaxzxjjyw_mondo_relaxed.owl FMA:70547 tmeehan 2010-09-08T02:29:38Z CL:1000429 cell owl:Class HP:0012243 biolink:NamedThing Abnormal reproductive system morphology A structural or developmental anomaly of any of the tissues involved in the genital system. tmpaxzxjjyw_mondo_relaxed.owl Abnormal genital system morphology UMLS:C4021096 peter 2013-04-02T07:02:20Z human_phenotype owl:Class MONDO:0003932 biolink:NamedThing childhood optic nerve glioma A glioma affecting the optic tract and occurring in childhood. tmpaxzxjjyw_mondo_relaxed.owl optic nerve glioma of childhood|visual pathway and hypothalamic glioma, childhood|childhood visual pathway glioma|pediatric optic nerve glioma|glioma of pediatric visual pathway|pediatric visual pathway glioma|glioma of the childhood visual pathway|glioma of the pediatric visual pathway|pediatric optic tract glioma|glioma of childhood visual pathway|visual pathway glioma|childhood optic tract glioma GARD:0009309|NCIT:C7535|MESH:D020339|DOID:6576 owl:Class MONDO:0022934 biolink:NamedThing Davis Lafer syndrome tmpaxzxjjyw_mondo_relaxed.owl mental retardation unusual facies Davis Lafer type|Lafer Davis syndrome|intellectual disability unusual facies Davis Lafer type UMLS:C2931077|GARD:0001674|MESH:C535989 https://rarediseases.info.nih.gov/diseases/1674/davis-lafer-syndrome owl:Class GO:0042762 biolink:NamedThing regulation of sulfur metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur, the nonmetallic element sulfur or compounds that contain sulfur. tmpaxzxjjyw_mondo_relaxed.owl regulation of sulfur metabolism|regulation of sulphur metabolism|regulation of sulphur metabolic process owl:Class CHEBI:24662 biolink:NamedThing hydroxy-amino acid A non-proteinogenic alpha-amino acid bearing one or more hydroxy groups at unspecified positions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:83925 biolink:NamedThing non-proteinogenic alpha-amino acid Any alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. tmpaxzxjjyw_mondo_relaxed.owl non-proteinogenic alpha-amino-acids|non-proteinogenic alpha-amino-acid|non-proteinogenic alpha-amino acids owl:Class MONDO:0014729 biolink:NamedThing hereditary spastic paraplegia 75 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene. tmpaxzxjjyw_mondo_relaxed.owl SPG75|autosomal recessive spastic paraplegia 75|hereditary spastic paraplegia type 75|MAG hereditary spastic paraplegia|autosomal recessive spastic paraplegia type 75|hereditary spastic paraplegia caused by mutation in MAG|spastic paraplegia 75, autosomal recessive DOID:0110820|EFO:0009018|Orphanet:459056|ICD10:G11.4|UMLS:C4225250|OMIM:616680 owl:Class MONDO:0030036 biolink:NamedThing leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome tmpaxzxjjyw_mondo_relaxed.owl leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome|LEMSPAD|Lemspad Syndrome|LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME OMIM:618878 owl:Class GO:0043624 biolink:NamedThing cellular protein complex disassembly The disaggregation of a protein complex into its constituent components, occurring at the level of an individual cell. Protein complexes may have other associated non-protein prosthetic groups, such as nucleic acids, metal ions or carbohydrate groups. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:746 biolink:NamedThing ASL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016795 biolink:NamedThing mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA tmpaxzxjjyw_mondo_relaxed.owl OXPHOS disease due to a duplication of mtDNA|mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA|OXPHOS disease due to a duplication of mitochondrial DNA 2022-03-01 UMLS:CN202051|Orphanet:254793 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO_0016387 owl:Class MONDO:0016791 biolink:NamedThing mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies tmpaxzxjjyw_mondo_relaxed.owl mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies|OXPHOS disease due to mitochondrial DNA anomalies|OXPHOS disease due to mtDNA anomalies 2022-03-01 Orphanet:254758|UMLS:CN202048 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO_0016387 owl:Class NCBITaxon:59140 biolink:NamedThing Myzomyia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019990 biolink:NamedThing non-amyloid fibrillary glomerulopathy Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy (ITG) are often grouped together as pathogenetically related diseases. tmpaxzxjjyw_mondo_relaxed.owl non-amyloid fibrillary glomerulonephritis|Congo red-negative amyloidosis-like glomerulopathy|fibrillary glomerulonephritis Orphanet:97566|UMLS:C4273674|ICD10:N03.6|GARD:0012740|SCTID:718192000 owl:Class MONDO:0019605 biolink:NamedThing immunotactoid or fibrillary glomerulopathy Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG. tmpaxzxjjyw_mondo_relaxed.owl Immunotactoid or fibrillary glomerulonephritis|fibrillary glomerulonephritis and immunotactoid glomerulopathy ICD10:N03.6|GARD:0012741|Orphanet:91137 https://rarediseases.info.nih.gov/diseases/12741/immunotactoid-or-fibrillary-glomerulopathy owl:Class MONDO:0019534 biolink:NamedThing mixed-type autoimmune hemolytic anemia Mixed autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) defined by the presence of both warm and cold autoantibodies, which have a deleterious effect on red blood cells at either body temperature or at lower temperatures. tmpaxzxjjyw_mondo_relaxed.owl mixed AIHA UMLS:C4305257|ICD10:D59.1|Orphanet:90036|SCTID:718716008 owl:Class MONDO:0020108 biolink:NamedThing autoimmune hemolytic anemia Autoimmune hemolytic anemia (AIHA) is an autoimmune disorder in which various types of auto-antibodies are directed against red blood cells causing their survival to be shortened and resulting in hemolytic anemia. tmpaxzxjjyw_mondo_relaxed.owl immuno-hemolytic anemia|AHA|anemia, autoimmune hemolytic|autoimmune haemolytic anaemia|idiopathic autoimmune hemolytic anemia|autoimmune hemolytic anemia|AIHA|acquired autoimmune hemolytic anemia|anemia hemolytic autoimmune|familial auto-immune hemolytic anemia (subtype) ICD10:D59.1|ICD10:D59.0|EFO:1001264|DOID:718|SCTID:413603009|ICD9:283.0|NCIT:C34378|Orphanet:98375|OMIM:205700|UMLS:C0002880|MESH:D000744|MedDRA:10002046|CSP:0427-1178|GARD:0005870 owl:Class MONDO:0006499 biolink:NamedThing hamartoma A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern. tmpaxzxjjyw_mondo_relaxed.owl hamartoma (disease)|hamartoma hamartoma (disease) NCIT:C3075|MESH:D006222|UMLS:C0018552|EFO:1000634|HP:0010566|SCTID:400006008|ICD9:759.6 owl:Class UBERON:0005486 biolink:NamedThing venous dural sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006615 biolink:NamedThing venous sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:250 biolink:NamedThing ADH1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017897 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Autosomal recessive (AR) mendelian susceptibility to mycobacterial diseases (MSMD) due to a complete deficiency describes a group of genetic variants of MSMD comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive MSMD due to a complete deficiency|mendelian susceptibility to mycobacterial diseases due to a complete deficiency, autosomal recessive 2022-03-01 ICD10:D84.8|Orphanet:319535|UMLS:CN203953 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited disease susceptibility' MONDO_0020573 owl:Class HGNC:12632 biolink:NamedThing USP9X tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045671 biolink:NamedThing negative regulation of osteoclast differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation. tmpaxzxjjyw_mondo_relaxed.owl inhibition of osteoclast differentiation|down regulation of osteoclast differentiation|down-regulation of osteoclast differentiation|downregulation of osteoclast differentiation owl:Class MONDO:0016808 biolink:NamedThing mitochondrial DNA depletion syndrome, hepatocerebral form tmpaxzxjjyw_mondo_relaxed.owl deoxyguanosine kinase deficiency|mtDNA depletion syndrome, hepatocerebral form UMLS:CN069134|MESH:C580039|Orphanet:254871|UMLS:C3711385 Editor note: consider merging with MONDO:0014943 owl:Class MONDO:0001945 biolink:NamedThing postencephalitic Parkinson disease A disease believed to be caused by a viral illness that triggers degeneration of the nerve cells in the substantia nigra. Overall, this degeneration leads to clinical parkinsonism. tmpaxzxjjyw_mondo_relaxed.owl postencephalitic parkinsonism|postencephalitic Parkinsonism MESH:D010301|ICD10:G21.3|Orphanet:97349|UMLS:C0030568|NCIT:C34898|DOID:14332|EFO:1001402|SCTID:19972008 owl:Class MONDO:0008800 biolink:NamedThing microphthalmia with limb anomalies Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly. tmpaxzxjjyw_mondo_relaxed.owl Ophthalmoacromelic syndrome|anophthalmos with limb anomalies|OAS|microphthalmia with limb anomalies|anophthalmia-syndactyly|MLA|anophthalmos-syndactyly|Waardenburg anophthalmia syndrome|ophthalmoacromelic syndrome|anophthalmia-syndactyly syndrome|anophthalmia Waardenburg syndrome OMIM:206920|ICD9:755.8|MESH:C537769|Orphanet:1106|GARD:0000722|DOID:0060861|ICD10:Q87.2|SCTID:703403003 owl:Class NCBITaxon:526524 biolink:NamedThing Erysipelotrichia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:23606477 ncbi_taxonomy owl:Class MONDO:0044753 biolink:NamedThing lumbar spinal stenosis A spinal stenosis that involves the lumbar region of vertebral column. tmpaxzxjjyw_mondo_relaxed.owl lumbar spinal stenosis|spinal stenosis of lumbar region of vertebral column|spinal stenosis of lumbar region|lumbar region of vertebral column spinal stenosis HP:0004610|UMLS:C0158288|ICD9:724.02|SCTID:18347007 owl:Class MONDO:0014087 biolink:NamedThing Smith-McCort dysplasia 2 Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene. tmpaxzxjjyw_mondo_relaxed.owl RAB33B Smith-McCort dysplasia|Smith-McCort dysplasia type 2|Smith-McCort dysplasia caused by mutation in RAB33B|Smc2|SMITH-McCort dysplasia 2|Smith-McCort dysplasia 2 Orphanet:178355|UMLS:C3714896|OMIM:615222 owl:Class MONDO:0015799 biolink:NamedThing Smith-McCort dysplasia Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC. tmpaxzxjjyw_mondo_relaxed.owl Smith McCort dysplasia|Smith-McCort dwarfism MESH:C564589|Orphanet:178355|GARD:0010620|OMIMPS:607326|OMIM:607326|SCTID:715862006|ICD10:Q77.7|OMIM:615222|DOID:0060247 https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia owl:Class GO:0032105 biolink:NamedThing negative regulation of response to extracellular stimulus Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an extracellular stimulus. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of response to extracellular stimulus|down regulation of response to extracellular stimulus|downregulation of response to extracellular stimulus|inhibition of response to extracellular stimulus owl:Class MONDO:0021381 biolink:NamedThing neoplasm of pericardium A neoplasm (disease) that involves the pericardium. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the pericardium|tumor of pericardium|neoplasm of pericardium|pericardial tumor|pericardium tumor|pericardial neoplasm|pericardium neoplasm (disease)|pericardium neoplasm|tumor of the pericardium NCIT:C4651|ICD9:239.89|SCTID:126734005 owl:Class MONDO:0024863 biolink:NamedThing small size posterior uveal melanoma tmpaxzxjjyw_mondo_relaxed.owl small size posterior uveal melanoma NCIT:C9089|UMLS:C0278867 owl:Class GO:2000083 biolink:NamedThing negative regulation of L-ascorbic acid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of L-ascorbic acid biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of vitamin C biosynthetic process|negative regulation of L-ascorbic acid biosynthesis|negative regulation of L-ascorbic acid synthesis|negative regulation of vitamin C biosynthesis|negative regulation of L-ascorbic acid formation|negative regulation of ascorbate biosynthetic process|negative regulation of L-ascorbic acid anabolism|negative regulation of ascorbate biosynthesis owl:Class MONDO:0006832 biolink:NamedThing limited scleroderma The least progressive form of systemic scleroderma with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The crest syndrome is a form of limited scleroderma. tmpaxzxjjyw_mondo_relaxed.owl systemic sclerosis, limited SCTID:298285004|DOID:1577|UMLS:C0748540|EFO:1001017|MESH:D045745|SCTID:299276009 owl:Class MONDO:0018665 biolink:NamedThing X-linked acrogigantism due to a point mutation tmpaxzxjjyw_mondo_relaxed.owl X-LAG (X-linked acrogigantism) due to a point mutation|familial infantile gigantism due to a point mutation UMLS:CN237730|ICD10:E22.0|Orphanet:448348 owl:Class MONDO:0045013 biolink:NamedThing disorder of extraembryonic membrane A disease or disorder that involves the extraembryonic membrane. tmpaxzxjjyw_mondo_relaxed.owl disorder of extraembryonic membrane|disease or disorder of extraembryonic membrane|extraembryonic membrane disease or disorder|disease of extraembryonic membrane|extraembryonic membrane disease UMLS:C3662139|SCTID:609522002 owl:Class MONDO:0035370 biolink:NamedThing ALPI-related inflammatory bowel disease Any inflammatory bowel disease in which the cause of the disease is a mutation in the ALPI gene. tmpaxzxjjyw_mondo_relaxed.owl 2022-12-01 Orphanet:597887 Reason: out of scope. Term to consider: MONDO_0005265 'inflammatory bowel disease'. https://github.com/monarch-initiative/mondo/issues/3543 owl:Class CL:0002341 biolink:NamedThing basal cell of prostate epithelium An undifferentiated cell of the prostate epithelium that lacks secretory activity. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-09-20T03:34:10Z cell owl:Class CL:0002231 biolink:NamedThing epithelial cell of prostate An epithelial cell of the prostate. tmpaxzxjjyw_mondo_relaxed.owl prostate epithelial cell FMA:66817|FMA:256163 tmeehan 2010-09-07T01:49:29Z CL:1000295|CL:1000408 cell owl:Class UBERON:0006934 biolink:NamedThing sensory epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016657 biolink:NamedThing 8p11.2 deletion syndrome 8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism. tmpaxzxjjyw_mondo_relaxed.owl monosomy 8p11.2|Del(8)(p11.2) Orphanet:251066|SCTID:719646006|UMLS:CN201887|ICD10:Q93.5|UMLS:C4304505 owl:Class MONDO:0009146 biolink:NamedThing ectodermal dysplasia-sensorineural deafness syndrome Ectodermal dysplasia-sensorineural deafness syndrome is characterised by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. It has been described in brother and sister born to consanguineous parents. The girl also presented with thoracic scoliosis. The mode of inheritance is likely to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl congenital ectodermal dysplasia with hearing loss|Mikaelian syndrome|hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers|ectodermal dysplasia and neurosensory deafness|ectodermal dysplasia-sensorineural hearing loss syndrome Orphanet:1883|MESH:C535757|OMIM:224800|UMLS:C1857068|GARD:0009723|MESH:C565606 https://rarediseases.info.nih.gov/diseases/9723/congenital-ectodermal-dysplasia-with-hearing-loss owl:Class MONDO:0010946 biolink:NamedThing hypertrophic cardiomyopathy 6 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the PRKAG2 gene. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic cardiomyopathy type 6|PRKAG2 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic 6|hypertrophic cardiomyopathy 6|hypertrophic cardiomyopathy caused by mutation in PRKAG2|CMH6|cardiomyopathy, familial hypertrophic, 6|cardiomyopathy, familial hypertrophic, type 6 DOID:0110312|MESH:C563436|OMIM:600858|UMLS:C1833236 owl:Class MONDO:0014112 biolink:NamedThing cardiofaciocutaneous syndrome 2 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene. tmpaxzxjjyw_mondo_relaxed.owl kras cardiofaciocutaneous syndrome|CFC2|cardiofaciocutaneous syndrome caused by mutation in KRAS|cardiofaciocutaneous syndrome caused by mutation in kras|cardiofaciocutaneous syndrome type 2|KRAS cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome 2 UMLS:C3809005|DOID:0111461|OMIM:615278|Orphanet:1340 owl:Class GO:0019814 biolink:NamedThing immunoglobulin complex A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpaxzxjjyw_mondo_relaxed.owl antibody owl:Class MONDO:0018971 biolink:NamedThing isolated oxycephaly Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull. tmpaxzxjjyw_mondo_relaxed.owl turricephaly|acrocephaly|hypsicephaly|hypsocephaly|pyrgocephaly SCTID:48069004|Orphanet:63440|ICD10:Q75.0|OMIM:123100|OMIM:616602 owl:Class HP:0000504 biolink:NamedThing Abnormality of vision Abnormality of eyesight (visual perception). tmpaxzxjjyw_mondo_relaxed.owl Abnormality of vision|Abnormality of sight|Vision issue UMLS:C4025846 human_phenotype owl:Class HGNC:21061 biolink:NamedThing SERAC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003395 biolink:NamedThing testicular granulosa cell tumor A rare sex cord-stromal tumor that arises from the testis. It is characterized by the presence of granulosa-like cells and Call-Exner bodies. There are two variants described, the adult and the juvenile. tmpaxzxjjyw_mondo_relaxed.owl granulosa cell neoplasm of testis|granulosa cell tumor of the testis|testicular granulosa cell tumor|testis granulosa cell tumor|testicular granulosa cell neoplasm|granulosa cell tumor of testis|granulosa cell neoplasm of the testis EFO:1000567|DOID:5331|NCIT:C6357|UMLS:C1336709 owl:Class MONDO:0015210 biolink:NamedThing syndromic gastroduodenal malformation A gastroduodenal malformation that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with gastroduodenal malformation|syndromic gastroduodenal malformation UMLS:CN226627|Orphanet:108965 owl:Class MONDO:0024461 biolink:NamedThing angiomatosis A benign diffuse vascular proliferation usually occurring in young adults. It is characterized by the formation of capillary-sized and cavernous vascular spaces. Patients present with diffuse persistent swelling. tmpaxzxjjyw_mondo_relaxed.owl angiomatosis|diffuse angiomatosis|diffuse hemangioma|multiple hemangiomas|angiomatoses UMLS:C0002992|SCTID:205562004|NCIT:C27503|MESH:D000798 Editor note: check this owl:Class MONDO:0017864 biolink:NamedThing congenital pulmonary veins atresia or stenosis Congenital pulmonary vein (PV) stenosis or atresia is a rare progressive life-threatening great vessels anomaly characterized by narrowing and obstruction of one or more normally positioned PV at their junction with the left atrium, that usually presents during early infancy with dyspnea, tachypnea, and repeated pulmonary infections, and eventually, when all PV of one lung are affected, results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects. tmpaxzxjjyw_mondo_relaxed.owl pulmonary veins stenosis|pulmonary vein stenosis UMLS:C0340756|ICD10:Q26.3|GARD:0004598|SCTID:234062003|Orphanet:3188 owl:Class HGNC:3858 biolink:NamedThing FRA16B tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901568 biolink:NamedThing fatty acid derivative metabolic process The chemical reactions and pathways involving fatty acid derivative. tmpaxzxjjyw_mondo_relaxed.owl fatty acid derivative metabolism owl:Class HGNC:32940 biolink:NamedThing NKX2-6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019383 biolink:NamedThing acute disseminated encephalomyelitis Acute disseminated encephalomyelitis (ADEM) is a demyelinating disorder of the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl ADE|acute disseminated encephalomyelitis|acute disseminated encephalitis|ADEM NCIT:C34578|ICD10:G04.0|DOID:639|ICD9:136.9|MESH:D004673|UMLS:C0014059|GARD:0008639|Orphanet:83597|SCTID:83942000|EFO:0007130 https://rarediseases.info.nih.gov/diseases/8639/acute-disseminated-encephalomyelitis owl:Class UBERON:0000080 biolink:NamedThing mesonephros tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009818 biolink:NamedThing autosomal recessive osteopetrosis 3 Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis, renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive osteopetrosis 3 with renal tubular acidosis|OPTB3|carbonic anhydrase II deficiency|carbonic anhydrase 2 deficiency|osteopetrosis autosomal recessive 3|osteopetrosis, autosomal recessive type 3|marble brain disease|Autosomal Recessive osteopetrosis, type 3|mixed renal tubular acidosis|autosomal recessive osteopetrosis type 3|CA2 osteopetrosis (disease)|Guibaud-Vainsel syndrome|osteopetrosis with renal tubular acidosis|osteopetrosis (disease) caused by mutation in CA2|Guibaud Vainsel syndrome|osteopetrosis, autosomal recessive 3|renal tubular acidosis type 3|mixed RTA SCTID:254122007|Orphanet:2785|OMIM:259730|GARD:0004154|OMIM:267200|ICD10:Q78.2|MESH:C536058|DOID:0110941|NCIT:C118438|ICD9:588.89 https://rarediseases.info.nih.gov/diseases/4154/osteopetrosis-autosomal-recessive-3 owl:Class MONDO:0010500 biolink:NamedThing intellectual disability, X-linked, syndromic 33 Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, syndromic type 33|TAF1 X-linked syndromic intellectual disability|intellectual disability, X-linked, syndromic type 33|MRXS33|intellectual disability, X-linked, syndromic 33|mental retardation, X-linked, syndromic 33|X-linked syndromic intellectual disability caused by mutation in TAF1 OMIM:300966|UMLS:C4225418 owl:Class MONDO:0016346 biolink:NamedThing hydrocephalus-obesity-hypogonadism syndrome This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. tmpaxzxjjyw_mondo_relaxed.owl hydrocephalus obesity hypogonadism|congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism|Sengers-Hamel-Otten syndrome SCTID:721231007|Orphanet:2183|GARD:0002775|UMLS:CN201182 owl:Class GO:1902491 biolink:NamedThing negative regulation of sperm capacitation Any process that stops, prevents or reduces the frequency, rate or extent of sperm capacitation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of sperm capacitation|down-regulation of sperm capacitation|inhibition of sperm capacitation|negative regulation of sperm activation|down regulation of sperm activation|inhibition of sperm activation|down-regulation of sperm activation|down regulation of sperm capacitation|downregulation of sperm activation owl:Class MONDO:0015271 biolink:NamedThing idiopathic camptocormia Idiopathic camptocormia is a postural disease characterized by an anterior flexion of the torso (during walking or standing) that resolves in the supine position and that is caused by weakness of the lumbar paraspinal muscles (spinal extensors), due to massive fatty infiltrations of posterior spinal muscles, without an identifiable etiology. tmpaxzxjjyw_mondo_relaxed.owl bent spine|camptocormism|camptocormia|bent spine syndrome|idiopathic progressive lumbar kyphosis|idiopathic camptocormism Orphanet:1320|GARD:0001063|ICD10:M43.8|MedDRA:10069646|SCTID:13534001|MESH:C537968 owl:Class MONDO:0018436 biolink:NamedThing megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities characterized by clonal proliferation of myeloid blasts with predominantly megakaryoblastic differentiation in the bone marrow and blood, often with extensive infiltration of the abdominal organs. It occurs typically in infants and usually presents with hepatosplenomegaly, anemia, thrombocytopenia and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections). Myelofibrosis and fibrosis of other infiltrated organs is also characteristic of this disease. tmpaxzxjjyw_mondo_relaxed.owl megakaryoblastic AML with t(1;22)(p13;q13) ICD10:C94.2|SCTID:763796007|Orphanet:402023 owl:Class MONDO:0032721 biolink:NamedThing spondyloepiphyseal dysplasia, kondo-fu type tmpaxzxjjyw_mondo_relaxed.owl SEDKF|Sed With Elevated Blood Lysosomal Enzymes|SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE OMIM:618392 owl:Class HGNC:29068 biolink:NamedThing KATNIP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010547 biolink:NamedThing X-linked progressive cerebellar ataxia tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia, X-linked 1|spinocerebellar ataxia, X-linked type 1|OPCA, X-linked|SCAX1|olivopontocerebellar atrophy, X-linked ICD10:G11.1|MESH:C563134|UMLS:C0796205|OMIM:302500|Orphanet:1175 owl:Class UBERON:0005037 biolink:NamedThing mucosa of lobar bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017837 biolink:NamedThing multiple sclerosis-ichthyosis-factor VIII deficiency syndrome Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203814|ICD10:G37.8|Orphanet:3151 owl:Class CL:1000681 biolink:NamedThing kidney cortex interstitial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001091 cell owl:Class MONDO:0021009 biolink:NamedThing salivary gland mucoepidermoid carcinoma A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome. tmpaxzxjjyw_mondo_relaxed.owl mucoepidermoid carcinoma of salivary gland|mucoepidermoid carcinoma of the salivary gland|saliva-secreting gland mucoepidermoid carcinoma|salivary gland mucoepidermoid carcinoma NCIT:C5908|UMLS:C1335903|SCTID:423708008 owl:Class MONDO:0020604 biolink:NamedThing X-linked dominant disease X-linked dominant form of disease. tmpaxzxjjyw_mondo_relaxed.owl DOID:0080009 owl:Class MONDO:0007061 biolink:NamedThing acylase, cobalt-activated tmpaxzxjjyw_mondo_relaxed.owl acylase, cobalt-activated OMIM:102590 owl:Class MONDO:0020091 biolink:NamedThing male infertility due to obstructive azoospermia tmpaxzxjjyw_mondo_relaxed.owl Male infertility due to impaired sperm transport 2022-03-01 ICD10:N46|Orphanet:98343 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class GO:0070626 biolink:NamedThing (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide. tmpaxzxjjyw_mondo_relaxed.owl adenylosuccinate lyase activity|succino AMP-lyase activity|adenylosuccinase activity owl:Class GO:0016842 biolink:NamedThing amidine-lyase activity Catalysis of the release of amides or amidines by the cleavage of a carbon-nitrogen bond or the reverse reaction with an amide or amidine as a substrate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012727 biolink:NamedThing mucocutaneous lymph node syndrome Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood. tmpaxzxjjyw_mondo_relaxed.owl MLNS|infantile polyarteritis nodosa|Kawasaki's disease|Kawasaki disease|mucocutaneous lymph node syndrome|Kd|infantile polyarteritis|acute febrile MCLS|acute febrile mucocutaneous lymph node syndrome|acute febrile mucocutaneous lymph node syndrome [MCLS]|Kawasaki syndrome EFO:0004246|ICD10:M30.3|OMIM:611775|SCTID:75053002|DOID:13378|GARD:0006816|ICD9:446.1|Orphanet:2331|MedDRA:10023320|NCIT:C34825|UMLS:C0026691|MESH:D009080 owl:Class MONDO:0015489 biolink:NamedThing predominantly medium-vessel vasculitis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156143 owl:Class MONDO:0008580 biolink:NamedThing toes, space between first and second tmpaxzxjjyw_mondo_relaxed.owl toes, space between first and second OMIM:189230 owl:Class MONDO:0004452 biolink:NamedThing childhood central nervous system germinoma A germinoma arising from the central nervous system during childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric central nervous system germinoma|central nervous system germinoma of childhood|Central nervous system germinoma NCIT:C27406|DOID:8078|UMLS:C1332953 owl:Class HGNC:1759 biolink:NamedThing CDH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005844 biolink:NamedThing spinal cord segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12469 biolink:NamedThing UBA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013305 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 51 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has material basis in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant 51|autosomal dominant nonsyndromic deafness 51|chromosome 9q21.11 duplication syndrome|deafness, autosomal dominant type 51|autosomal dominant nonsyndromic deafness type 51|autosomal dominant deafness 51|DFNA51|chromosome 9Q21.11 Duplication syndrome DOID:0110577|UMLS:C3160736|OMIM:613558|ICD10:H90.3 owl:Class UBERON:0008408 biolink:NamedThing distal tubular epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018899 biolink:NamedThing posterior cortical atrophy Posterior Cortical Atrophy (PCA) is a rare progressive neurodegenerative disorder with a typical onset between 50-65 years of age characterized by progressive impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities. tmpaxzxjjyw_mondo_relaxed.owl PCA|Benson syndrome|biparietal Alzheimer disease UMLS:CN205270|Orphanet:54247|SCTID:715574002|ICD10:G31.1 owl:Class HP:0001679 biolink:NamedThing Abnormal aortic morphology An abnormality of the aorta. tmpaxzxjjyw_mondo_relaxed.owl Abnormal aorta morphology|Abnormality of the aorta Fyler:1453|UMLS:C4025756 HP:0030963 human_phenotype owl:Class MONDO:0020175 biolink:NamedThing malignant tumor of palpebral epidermis A cancer that involves the skin of eyelid. tmpaxzxjjyw_mondo_relaxed.owl malignant skin of eyelid neoplasm|malignant neoplasm of skin of eyelid|cancer of skin of eyelid|skin of eyelid cancer SCTID:423425006|Orphanet:98584|UMLS:CN207035 owl:Class HGNC:6494 biolink:NamedThing LAMC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0098662 biolink:NamedThing inorganic cation transmembrane transport A process in which an inorganic cation is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl divalent inorganic cation transport|inorganic cation membrane transport|transmembrane inorganic cation transport|monovalent inorganic cation transport owl:Class MONDO:0010156 biolink:NamedThing Troyer syndrome Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin. tmpaxzxjjyw_mondo_relaxed.owl SPG20|spastic paraplegia, autosomal recessive, Troyer type|spastic paraplegia 20 (Troyer syndrome)|spastic paraparesis, childhood-onset, with distal muscle wasting|childhood-onset spastic paraparesis with distal muscle wasting|spastic paraplegia 20|Cross-McKusick syndrome|autosomal recessive spastic paraplegia Troyer type|spastic paraplegia 20, autosomal recessive|hereditary spastic paraplegia 20|autosomal recessive spastic paraplegia type 20|autosomal recessive spastic paraplegia 20|spastic paraplegia type 20|childhood-onset spastic paraparesis-distal muscle wasting syndrome|Troyer syndrome DOID:0050886|ICD9:335.29|Orphanet:101000|OMIM:275900|ICD10:G11.4|GARD:0005372|UMLS:C0393559|MESH:C536858|SCTID:230264003 https://rarediseases.info.nih.gov/diseases/5372/troyer-syndrome owl:Class HGNC:12509 biolink:NamedThing UBQLN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0035176 biolink:NamedThing social behavior Behavior directed towards society, or taking place between members of the same species. Occurs predominantly, or only, in individuals that are part of a group. tmpaxzxjjyw_mondo_relaxed.owl social behaviour|cooperative behavior owl:Class UBERON:0005205 biolink:NamedThing lamina propria of vagina tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024392 biolink:NamedThing anaerobic balanitis tmpaxzxjjyw_mondo_relaxed.owl anaerobic balanitis UMLS:C0403764|SCTID:236746000 owl:Class CHEBI:37949 biolink:NamedThing azacycloalkane tmpaxzxjjyw_mondo_relaxed.owl azacycloalkanes owl:Class MONDO:0016663 biolink:NamedThing overlapping connective tissue disease tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10027754|Orphanet:251312|UMLS:C1858556|UMLS:C0026272|UMLS:CN201903|ICD10:M35.1 owl:Class MONDO:0700011 biolink:NamedThing chromosome 4 disorder Chromosomal disorder in which chromosome 4 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0012704 biolink:NamedThing dilated cardiomyopathy 1X Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the FKTN gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, with mild or No proximal muscle weakness|CMD1X|FKTN familial isolated dilated cardiomyopathy|familial isolated dilated cardiomyopathy caused by mutation in FKTN|cardiomyopathy, dilated, 1X|dilated cardiomyopathy type 1X|dilated cardiomyopathy with mild or no proximal muscle weakness|cardiomyopathy, dilated, type 1X MESH:C566907|ICD10:I42.0|DOID:0110444|UMLS:C1969024|OMIM:611615|Orphanet:154 owl:Class MONDO:0042600 biolink:NamedThing Sammartino-Decreccio syndrome tmpaxzxjjyw_mondo_relaxed.owl Sammartino Decreccio syndrome|superficial annular corneal dystrophy, ichthyosis nigrans, microcephaly and mild mental subnormality GARD:0000150 owl:Class UBERON:0011971 biolink:NamedThing calcaneofibular ligament tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001946 biolink:NamedThing hyperestrogenism Abnormally high level of estrogen. tmpaxzxjjyw_mondo_relaxed.owl estrogen Excess|hyperestrogenism ICD10:E28.0|UMLS:C0154209|NCIT:C113344|DOID:14336|EFO:0009004|ICD9:256.0|SCTID:37295009 Editor note: consider obsoleting and replacing with HPO class. Note the equivalent class in NCIT is a finding. owl:Class MONDO:0001889 biolink:NamedThing ovarian dysfunction The inability of the ovaries to function. tmpaxzxjjyw_mondo_relaxed.owl ovarian insufficiency|ovarian failure|ovarian hypofunction SCTID:37102008|ICD9:256.9|ICD10:E28|EFO:0009003|DOID:1414|ICD9:256.3|ICD9:256.39|NCIT:C113351|ICD9:256.8 owl:Class MONDO:0016515 biolink:NamedThing Kallmann syndrome-heart disease syndrome Kallmann syndrome with cardiopathy is characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:2326|UMLS:CN201538|ICD10:Q24.8 owl:Class UBERON:0001542 biolink:NamedThing inguinal lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044113 biolink:NamedThing bullous systemic lupus erythematosus A manifestation of systemic lupus erythematosus with a widespread vesiculobullous eruption. tmpaxzxjjyw_mondo_relaxed.owl bullous systemic lupus erythematosus|BSLE NCIT:C117104|Orphanet:46489|SCTID:239889005|EFO:0008619|UMLS:C0409977 owl:Class MONDO:0015045 biolink:NamedThing alpha-heavy chain disease Alpha-heavy chain disease (alpha-HCD) is a type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption. tmpaxzxjjyw_mondo_relaxed.owl Seligmann's disease|Mediterranean lymphoma|IPSID|Mediterranean abdominal lymphoma|alpha chain disease|Alpha heavy chain disease|Mediterraneanl lymphoma|Alpha-HCD|Immunoproliferative small intestinal disease ICDO:9764/3|ICDO:9760/3|DOID:0060126|ICD10:C88.3|UMLS:C0021071|NCIT:C3132|EFO:1001798|Orphanet:100025|MESH:D007161 owl:Class MONDO:0016450 biolink:NamedThing autoimmune hemolytic anemia, cold type Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH). tmpaxzxjjyw_mondo_relaxed.owl cold AIHA|cAHA|cAIHA Orphanet:228312|ICD10:D59.1|UMLS:CN201401 owl:Class GO:0043229 biolink:NamedThing intracellular organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008202 biolink:NamedThing bone of hip region tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000804 biolink:NamedThing astronomical object An object which is composed of one or more gravitationally bound structures that are associated with a position in space. tmpaxzxjjyw_mondo_relaxed.owl celestial object owl:Class MONDO:0012735 biolink:NamedThing Temple-Baraitser syndrome Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, severe, and absent nails of hallux and pollex|severe mental retardation and absent nails of hallux and pollex|severe intellectual disability and absent nails of hallux and pollex|severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome|Temple-Baraitser syndrome|TMBTS|mental retardation, severe, and absent nails of hallux and pollex MESH:C567516|EFO:0009062|UMLS:C2678486|OMIM:611816|GARD:0009441|ICD10:Q87.2|Orphanet:420561 owl:Class CHEBI:33679 biolink:NamedThing helium molecular entity tmpaxzxjjyw_mondo_relaxed.owl helium molecular entity|helium molecular entities|helium compounds owl:Class MONDO:0016796 biolink:NamedThing mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. tmpaxzxjjyw_mondo_relaxed.owl mtDNA depletion syndrome, encephalomyopathic form OMIM:612075|Orphanet:254803|UMLS:CN202052|UMLS:CN230130|OMIM:612073 owl:Class UBERON:0003834 biolink:NamedThing thoracic segment blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016373 biolink:NamedThing isolated facial myokymia tmpaxzxjjyw_mondo_relaxed.owl ICD10:G51.4|Orphanet:221106 Editor note: todo check MESH owl:Class UBERON:0000975 biolink:NamedThing sternum tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18475 biolink:NamedThing ZDHHC9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0001500 biolink:NamedThing heritable_phenotypic_marker A biological_region characterized as a single heritable trait in a phenotype screen. The heritable phenotype may be mapped to a chromosome but generally has not been characterized to a specific gene locus. tmpaxzxjjyw_mondo_relaxed.owl phenotypic marker|heritable phenotypic marker owl:Class SO:0001645 biolink:NamedThing genetic_marker A measurable sequence feature that varies within a population. tmpaxzxjjyw_mondo_relaxed.owl genetic marker owl:Class MONDO:0011889 biolink:NamedThing Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2I (CMT2I) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a late onset with severe sensory loss (paresthesia and hypoesthesia) associated with distal weakness, mainly of the legs, and absent or reduced deep tendon reflexes. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, type 2I|CMT2I|CMT 2I|Charcot Marie Tooth disease type 2I|Charcot-Marie-Tooth neuropathy type 2I|autosomal dominant Charcot-Marie-Tooth disease type 2I|Charcot-Marie-Tooth disease, axonal, type 2I SCTID:717013009|Orphanet:99942|GARD:0009197|ICD10:G60.0|OMIM:607677|UMLS:C1837552|UMLS:CN207466|DOID:0110158 https://rarediseases.info.nih.gov/diseases/9197/charcot-marie-tooth-disease-type-2i owl:Class HGNC:29843 biolink:NamedThing NSMF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018278 biolink:NamedThing congenital muscular dystrophy with intellectual disability tmpaxzxjjyw_mondo_relaxed.owl CMD-MR|CMD with intellectual disability Orphanet:370968|OMIM:606612|OMIM:613156|OMIM:613155|ICD10:G71.2|OMIM:608840|OMIM:615351 owl:Class NCIT:C35886 biolink:NamedThing Morphologic Architectural Pattern tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002031 biolink:NamedThing epithelium of bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1618 biolink:NamedThing CCT5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014444 biolink:NamedThing Bardet-Biedl syndrome 16 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene. tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome type 16|Bardet-Biedl syndrome 16|SDCCAG8 Bardet-Biedl syndrome|BBS16|Bardet-Biedl syndrome caused by mutation in SDCCAG8 UMLS:C3889474|DOID:0110138|Orphanet:110|ICD10:Q87.89|OMIM:615993 owl:Class UBERON:0011846 biolink:NamedThing acinus of sebaceous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045725 biolink:NamedThing positive regulation of glycogen biosynthetic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of glycogen biosynthesis|positive regulation of glycogen synthesis|upregulation of glycogen biosynthetic process|activation of glycogen biosynthetic process|positive regulation of glycogen formation|up-regulation of glycogen biosynthetic process|stimulation of glycogen biosynthetic process|up regulation of glycogen biosynthetic process|positive regulation of glycogen anabolism owl:Class HP:0010917 biolink:NamedThing Abnormal circulating tyrosine concentration Any deviation from the normal concentration of tyrosine in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023653 peter 2010-12-08T09:13:53Z human_phenotype owl:Class HP:0004338 biolink:NamedThing Abnormal circulating aromatic amino acid concentration Any deviation from the normal concentration of a aromatic amino acid in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of aromatic amino acid family metabolism UMLS:C4025352 peter 2008-03-08T07:55:00Z human_phenotype owl:Class MONDO:0031006 biolink:NamedThing neurodegeneration with ataxia and late-onset optic atrophy tmpaxzxjjyw_mondo_relaxed.owl NDAXOA OMIM:619259 owl:Class NCBITaxon:36734 biolink:NamedThing Unikaryonidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6032 biolink:NamedThing Apansporoblastina tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007766 biolink:NamedThing Morgagni-Stewart-Morel syndrome Morgagni-Stewart-Morel syndrome is characterised by thickening of the inner table of the frontal bone, sometimes associated with obesity and hypertrichosis. It mainly affects women over 35 years of age. The prevalence and clinical significance of hyperostosis frontalis interna is unknown. Transmission is either X-linked or autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl hyperostosis frontalis interna|hyperostosis frontalis interna, obesity, shortness and cognitive impairment|Morgagni-Stewart-Morel syndrome|MSM syndrome SCTID:82054006|NCIT:C84772|GARD:0008593|Orphanet:77296|OMIM:144800|ICD10:M85.2|MESH:D006957 https://rarediseases.info.nih.gov/diseases/8593/morgagni-stewart-morel-syndrome owl:Class NCBITaxon:2560066 biolink:NamedThing Matonaviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0045656 biolink:NamedThing negative regulation of monocyte differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of monocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of monocyte differentiation|down-regulation of monocyte differentiation|downregulation of monocyte differentiation|inhibition of monocyte differentiation owl:Class MONDO:0007968 biolink:NamedThing melanoma tumor antigen Gp90 tmpaxzxjjyw_mondo_relaxed.owl melanoma tumor antigen Gp90|Class 1 unique tumor antigen of melanoma OMIM:155770 owl:Class MONDO:0013784 biolink:NamedThing lethal neonatal spasticity-epileptic encephalopathy syndrome tmpaxzxjjyw_mondo_relaxed.owl rigidity and multifocal seizure syndrome, lethal neonatal|lethal neonatal spasticity-epileptic encephalopathy syndrome|RMFSL|lethal neonatal rigidity-multifocal seizure syndrome ICD10:G40.4|OMIM:614498|EFO:0009144|UMLS:C3281029|Orphanet:435845 owl:Class MONDO:0013398 biolink:NamedThing acne inversa, familial, 3 Any familial acne inversa in which the cause of the disease is a mutation in the PSEN1 gene. tmpaxzxjjyw_mondo_relaxed.owl PSEN1 familial acne inversa|ACNINV3|familial acne inversa caused by mutation in PSEN1|acne inversa, familial, 3|acne inversa, familial, type 3 OMIM:613737|UMLS:C3151038 owl:Class MONDO:0024516 biolink:NamedThing familial acne inversa An instance of hidradenitis suppurativa that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl familial hidradenitis suppurativa|hereditary hidradenitis suppurativa|ACNINV OMIMPS:142690 owl:Class MONDO:0015182 biolink:NamedThing congenital enteropathy involving intestinal mucosa development tmpaxzxjjyw_mondo_relaxed.owl Orphanet:104007 owl:Class MONDO:0021113 biolink:NamedThing respiratory failure The significant impairment of gas exchange within the lungs resulting in hypoxia, hypercarbia, or both, to the extent that organ tissue perfusion is severely compromised. Causes include chronic obstructive pulmonary disease, asthma, emphysema, acute respiratory distress syndrome, pneumonia, pulmonary edema, pneumothorax, and congestive heart failure. Treatment requires intubation and mechanical ventilation until the time the lungs recover sufficient function. tmpaxzxjjyw_mondo_relaxed.owl respiratory failure|chronic respiratory failure|respiratory insufficiency/failure|failure, respiratory|acute-on-chronic respiratory failure|acute respiratory failure|acute and chronic respiratory failure MESH:D012131|ICD10:J96.0|SCTID:65710008|NCIT:C26872|DOID:11162|SCTID:39871006|ICD9:518.83|ICD9:518.81|UMLS:C0264490|NCIT:C27043|UMLS:C1145670 owl:Class NCBITaxon:694002 biolink:NamedThing Betacoronavirus tmpaxzxjjyw_mondo_relaxed.owl Coronavirus group 2|Coronavirus|Group 2 species GC_ID:1 NCBITaxon:156439 ncbi_taxonomy owl:Class MONDO:0019910 biolink:NamedThing maternal uniparental disomy of chromosome 2 Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpaxzxjjyw_mondo_relaxed.owl UPD(2)mat|maternal uniparental disomy of chromosome type 2 Orphanet:96179|ICD10:Q99.8|SCTID:766237006 owl:Class UBERON:0005004 biolink:NamedThing mucosa of right ureter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005787 biolink:NamedThing hepatic tuberculosis Infection of the liver with species of mycobacterium, most often mycobacterium tuberculosis. It is characterized by localized small tuberculous miliary lesions or tumor-like mass (tuberculoma), and abnormalities in liver function tests. tmpaxzxjjyw_mondo_relaxed.owl tuberculosis of liver ICD9:017.90|UMLS:C0041313|EFO:0007302|DOID:407|MESH:D014386|SCTID:186273003 owl:Class MONDO:0000369 biolink:NamedThing abdominal tuberculosis An extrapulmonary tuberculosis that is located in gastrointestinal tract, located in peritoneum, located in omentum, located in mesentery, located in liver, located in spleen or located in pancreas. tmpaxzxjjyw_mondo_relaxed.owl tuberculosis of abdomen SCTID:447330002|DOID:0050599|UMLS:C0740652|ICD9:014.80 owl:Class GO:0001906 biolink:NamedThing cell killing Any process in an organism that results in the killing of its own cells or those of another organism, including in some cases the death of the other organism. Killing here refers to the induction of death in one cell by another cell, not cell-autonomous death due to internal or other environmental conditions. tmpaxzxjjyw_mondo_relaxed.owl necrosis owl:Class GO:0010829 biolink:NamedThing negative regulation of glucose transmembrane transport Any process that decreases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of glucose transport owl:Class MONDO:0043479 biolink:NamedThing adenoviridae infectious disease An infectious process caused by adenovirus. The virus may cause respiratory illness, conjunctivitis, gastroenteritis, and cystitis. tmpaxzxjjyw_mondo_relaxed.owl infection, adenovirus|infections, adenovirus|adenovirus infections|disease caused by adenovirus|adenoviridae infectious disease|Adenoviridae disease or disorder|adenovirus infection|Adenoviridae infection|infection, Adenoviridae|infections, Adenoviridae|Adenoviridae infectious disease|disease due to adenovirus|Adenoviridae caused disease or disorder SCTID:25225006|UMLS:C0001486|NCIT:C115149|MESH:D000257 Editor note: check adenovirus vs adenoviridae owl:Class MONDO:0001298 biolink:NamedThing congenital mitral valve insufficiency Dysfunction of the mitral valve characterized by incomplete valve closure. tmpaxzxjjyw_mondo_relaxed.owl mitral insufficiency|mitral valve insufficiency|congenital mitral insufficiency|mitral valve incompetence|mitral regurgitation|congenital mitral regurgitation|insufficiency, mitral|congenital insufficiency of mitral valve NCIT:C50888|ICD10:Q23.3|MESH:D008944|UMLS:C0158619|DOID:11502|SCTID:29928006|ICD9:746.6|ICD9:396.3 owl:Class MONDO:0014368 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 10 tmpaxzxjjyw_mondo_relaxed.owl CMM10|melanoma, cutaneous malignant, susceptibility to, 10|melanoma, cutaneous malignant, susceptibility to, type 10|susceptibility to cutaneous malignant melanoma 10 OMIM:615848|Orphanet:618 owl:Class MONDO:0013926 biolink:NamedThing hypogonadotropic hypogonadism 14 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the WDR11 gene. tmpaxzxjjyw_mondo_relaxed.owl HH14|hypogonadotropic hypogonadism caused by mutation in WDR11|WDR11 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 14 with or without anosmia UMLS:C3540450|OMIM:614858|DOID:0090087|ICD10:E23.0 owl:Class UBERON:0003548 biolink:NamedThing forebrain meninges tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010578 biolink:NamedThing deafness dystonia syndrome Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards. tmpaxzxjjyw_mondo_relaxed.owl deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|Mohr-Tranebjaerg syndrome|MOHR-Tranebjaerg syndrome|DDP|deafness dystonia syndrome|deafness dystonia optic neuronopathy syndrome (DDON)|deafness dystonia optic neuronopathy syndrome|deafness-dystonia-optic neuronopathy syndrome|MTS|dystonia deafness syndrome|deafness-Dystonia-optic atrophy syndrome|DDON syndrome|deafness-dystonia-optic neuronopathy (DDON) syndrome|deafness dystonia optic atrophy syndrome|dystonia-deafness syndrome|deafness - dystonia - optic neuronopathy syndrome SCTID:702423009|UMLS:C0796074|MESH:C535808|OMIM:304700|DOID:0050757|ICD9:759.89|Orphanet:52368|ICD10:G31.8|GARD:0008331 owl:Class MONDO:0018569 biolink:NamedThing X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237580|Orphanet:435938|ICD10:Q87.8 owl:Class NCIT:C16149 biolink:NamedThing Progesterone Receptor Status tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C94299 biolink:NamedThing Receptor Status tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0100851 biolink:NamedThing Abnormal emotion/affect behavior An abnormality of emotional behaviour. tmpaxzxjjyw_mondo_relaxed.owl Abnormal emotion/affect behaviour UMLS:C4020949 doelkens 2011-06-23T11:07:13Z human_phenotype owl:Class MONDO:0024337 biolink:NamedThing urothelial neoplasm A neoplasm involving a urothelium. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of urothelium|urothelial neoplasm|urothelium tumor|transitional cell neoplasm of the urinary tract|urothelium neoplasm (disease)|urothelium neoplasm|tumor of urothelium UMLS:C1519840|NCIT:C39852 owl:Class MONDO:0018884 biolink:NamedThing Roch-Leri mesosomatous lipomatosis Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984. tmpaxzxjjyw_mondo_relaxed.owl Roch-Leri syndrome SCTID:716772007|GARD:0004733|ICD10:E88.2|Orphanet:529|UMLS:C4274284 https://rarediseases.info.nih.gov/diseases/4733/roch-leri-mesosomatous-lipomatosis owl:Class MONDO:0013111 biolink:NamedThing acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia. tmpaxzxjjyw_mondo_relaxed.owl LFIT|transient infantile liver failure|acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins|acute infantile liver failure|liver failure, infantile, transient|acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins|infantile liver failure caused by mutation in TRMU|TRMU infantile liver failure UMLS:C3278664|OMIM:613070|ICD10:K72.0|Orphanet:217371|GARD:0010593 Editor note: add transient course owl:Class MONDO:0017324 biolink:NamedThing autosomal recessive hypophosphatemic rickets Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. tmpaxzxjjyw_mondo_relaxed.owl hypophosphatemic rickets, autosomal recessive|autosomal recessive hereditary hypophosphatemic rickets|hereditary hypophosphatemic rickets, autosomal recessive|ARHR OMIM:241520|UMLS:CN202957|DOID:0050949|ICD10:E83.3|SCTID:90505000|Orphanet:289176|OMIM:613312 owl:Class MONDO:0014548 biolink:NamedThing long QT syndrome 14 Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene. tmpaxzxjjyw_mondo_relaxed.owl long QT syndrome 14|long QT syndrome caused by mutation in CALM1|LQT14|CALM1 long QT syndrome|long QT syndrome type 14 DOID:0110655|UMLS:C4015671|OMIM:616247|ICD10:I45.8|Orphanet:101016|Orphanet:768 owl:Class GO:0046496 biolink:NamedThing nicotinamide nucleotide metabolic process The chemical reactions and pathways involving nicotinamide nucleotides, any nucleotide that contains combined nicotinamide. tmpaxzxjjyw_mondo_relaxed.owl nicotinamide nucleotide metabolism owl:Class MONDO:0014477 biolink:NamedThing developmental and epileptic encephalopathy, 26 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 26|EIEE26|DEE26|epileptic encephalopathy, early infantile, type 26|early infantile epileptic encephalopathy 26|early infantile epileptic encephalopathy caused by mutation in KCNB1|KCNB1 early infantile epileptic encephalopathy GARD:0012391|OMIM:616056|UMLS:C4015119|DOID:0080461 https://rarediseases.info.nih.gov/diseases/12391/early-infantile-epileptic-encephalopathy-26 owl:Class MONDO:0000639 biolink:NamedThing cartilage cancer A cancer involving a cartilage tissue. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of cartilage tissue|malignant cartilage tissue neoplasm|cartilage tissue cancer|cartilaginous cancer|cancer of cartilage tissue GARD:0006004|DOID:0060102 https://rarediseases.info.nih.gov/diseases/6004/cartilaginous-cancer owl:Class MONDO:0022606 biolink:NamedThing branchial arch disease A disease that involves the pharyngeal system development. tmpaxzxjjyw_mondo_relaxed.owl disease of pharyngeal system development|pharyngeal system development disease|disorder of pharyngeal system development GARD:0001001 owl:Class MONDO:0005340 biolink:NamedThing alopecia areata Loss of scalp and body hair involving microscopically inflammatory patchy areas. tmpaxzxjjyw_mondo_relaxed.owl patchy loss of hair|alopecia circumscripta|alopecia areata|circumscribed alopecia|alopecia Circumscripta DOID:986|ICD10:L63.9|ICD10:L63|MESH:D000506|UMLS:C0002171|OMIM:610753|ICD9:704.01|OMIM:104000|EFO:0004192|SCTID:68225006|GARD:0005782 owl:Class NCBITaxon:136 biolink:NamedThing Spirochaetales tmpaxzxjjyw_mondo_relaxed.owl spirochetes PMID:23908650|PMID:16558735|GC_ID:11|PMID:1917844|PMID:11075904|PMID:11542017 ncbi_taxonomy owl:Class NCBITaxon:203692 biolink:NamedThing Spirochaetia tmpaxzxjjyw_mondo_relaxed.owl Spirochaetes|"Leptospiria" Cavalier-Smith 2020 PMID:26654112|GC_ID:11|PMID:25288668|PMID:11837318 ncbi_taxonomy owl:Class MONDO:0000385 biolink:NamedThing benign digestive system neoplasm A non-metastasizing neoplasm arising from any part of the digestive system. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of gastrointestinal system|benign gastrointestinal neoplasm|benign tumor of GI system|benign GI neoplasm|benign tumor of the GI system|benign neoplasm of gastrointestinal system|benign gastrointestinal tumor|benign GI system neoplasm|benign GI system tumor|benign tumor of the digestive system|benign neoplasm of digestive system|benign gastrointestinal system tumor|benign neoplasm of the digestive system|benign GI tumor|gastrointestinal system benign neoplasm|benign tumor of the gastrointestinal system|alimentary part of gastrointestinal system benign neoplasm|benign digestive system tumor|benign tumor of digestive system NCIT:C4787|DOID:0050624|UMLS:C0497538 owl:Class MONDO:0001790 biolink:NamedThing spinal cord lipoma A benign adipose tissue neoplasm of the spinal cord. It is usually associated with dysraphism in which the intraspinal component communicates with a subcutaneous lipoma through a defect in the posterior elements of the spine. Non-dysraphic intramedullary spinal cord lipomas are very rare. tmpaxzxjjyw_mondo_relaxed.owl spinal cord lipoma|lipoma of spinal cord UMLS:C0347446|NCIT:C4619|DOID:13743|ICD9:214.8|SCTID:189017000 owl:Class MONDO:0008958 biolink:NamedThing Klippel-Feil syndrome 2, autosomal recessive Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene. tmpaxzxjjyw_mondo_relaxed.owl KFS2|isolated Klippel-Feil syndrome caused by mutation in MEOX1|cervical vertebral fusion, autosomal recessive|MEOX1 isolated Klippel-Feil syndrome|Kfs, autosomal recessive|Klippel-Feil syndrome 2, autosomal recessive|Klippel-FEIL syndrome 2, autosomal recessive DOID:0080590|OMIM:214300|UMLS:C1859209|MESH:C536888|Orphanet:2345 owl:Class MONDO:0016520 biolink:NamedThing isolated Klippel-Feil syndrome Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic Klippel-Feil syndrome|Klippel-Feil malformation|congenital fused cervical segments|congenital cervical vertebral fusion|Klippel-Feil sequence ICD10:Q76.1|OMIM:118100|OMIM:214300|OMIM:613702|Orphanet:2345 owl:Class MONDO:0004310 biolink:NamedThing adult embryonal tumor with multilayered rosettes, c19mc-altered An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl ependymoblastoma of adults|adult ependymoblastoma|embryonal tumor with multilayered rosettes, C19MC-altered|adult embryonal tumor with multilayered rosettes, C19MC-altered DOID:7631|NCIT:C8290|UMLS:C0281330 owl:Class MONDO:0002795 biolink:NamedThing adult central nervous system primitive neuroectodermal neoplasm A central nervous system embryonal tumor, not otherwise specified that occurs in adults. tmpaxzxjjyw_mondo_relaxed.owl adult central primitive neuroectodermal tumour|adult central nervous system primitive neuroectodermal neoplasm|adult central nervous system primitive neuroectodermal tumor|adult CNS primitive neuroectodermal neoplasm|adult CNS primitive neuroectodermal tumor|adult central primitive neuroectodermal neoplasm|central nervous system primitive neuroectodermal neoplasm of adults|adult CNS PNET UMLS:C1332196|NCIT:C5411|DOID:3865 owl:Class GO:1901293 biolink:NamedThing nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. tmpaxzxjjyw_mondo_relaxed.owl nucleoside phosphate synthesis|nucleoside phosphate formation|nucleoside phosphate biosynthesis|nucleoside phosphate anabolism owl:Class GO:0006753 biolink:NamedThing nucleoside phosphate metabolic process The chemical reactions and pathways involving any phosphorylated nucleoside. tmpaxzxjjyw_mondo_relaxed.owl nucleoside phosphate metabolism owl:Class MONDO:0021105 biolink:NamedThing NAFLD1 tmpaxzxjjyw_mondo_relaxed.owl liver disease, alcoholic, susceptibility to, 1|NAFLD1|fatty liver disease, nonalcoholic, susceptibility to, 1 OMIM:613282 owl:Class MONDO:0013209 biolink:NamedThing non-alcoholic fatty liver disease A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. tmpaxzxjjyw_mondo_relaxed.owl non-alcoholic fatty liver|liver disease, alcoholic, susceptibility to, 1|NAFLD - nonalcoholic fatty liver disease|NAFLD1|fatty liver disease, nonalcoholic, susceptibility to, 1|non-alcoholic fatty liver disease|nonalcoholic fatty liver disease|fatty liver disease, nonalcoholic|NAFLD EFO:0003095|DOID:0080208|EFO:1001248|MedDRA:10029530|OMIM:613282|MESH:D065626|SCTID:197315008|ICD9:571.8|OMIM:613387|NCIT:C84444|Orphanet:33271 owl:Class MONDO:0005517 biolink:NamedThing pharynx cancer A primary or metastatic malignant neoplasm that affects the pharynx. tmpaxzxjjyw_mondo_relaxed.owl pharynx neoplasm|cancer of chordate pharynx|malignant neoplasm of chordate pharynx|malignant tumor of the pharynx|malignant pharynx tumor|malignant pharyngeal tumor|malignant tumor of pharynx|malignant chordate pharynx neoplasm|cancer of pharynx|malignant pharynx neoplasm|pharyngeal cancer|chordate pharynx cancer|pharynx cancer|malignant neoplasm of pharynx|malignant pharyngeal neoplasm|pharyngeal neoplasm EFO:0005577|NCIT:C7545|NCIT:C3325|MESH:D010610|DOID:0060119 owl:Class MONDO:0017023 biolink:NamedThing secondary interstitial lung disease specific to childhood associated with a granulomatous disease tmpaxzxjjyw_mondo_relaxed.owl secondary ILD specific to childhood associated with a granulomatous disease 2022-03-01 UMLS:CN202336|Orphanet:264714 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0017020 biolink:NamedThing secondary interstitial lung disease specific to childhood associated with a systemic disease tmpaxzxjjyw_mondo_relaxed.owl secondary ILD specific to childhood associated with a systemic disease 2022-03-01 UMLS:CN202333|Orphanet:264699 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class CL:0002364 biolink:NamedThing cortical thymic epithelial cell An epithelial cell of the cortical portion of the thymus. Epithelial cells in this region are required for positive selection of CD8-positive T cells. tmpaxzxjjyw_mondo_relaxed.owl cTEC BTO:0004562 tmeehan 2010-09-23T03:17:12Z cell owl:Class MONDO:0007764 biolink:NamedThing autosomal dominant osteosclerosis, Worth type Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture. tmpaxzxjjyw_mondo_relaxed.owl hyperostosis corticalis generalisata, benign form of Worth, with torus palatinus|osteosclerosis, autosomal dominant|Ostéosclérose autosomique dominante type Worth|hyperostosis corticalis generalisata, benign form of Worth with torus palatinus|endosteal hyperostosis, Worth type|Worth syndrome|endosteal hyperostosis, autosomal dominant|osteosclerosis, autosomal dominant, Worth type GARD:0000390|ICD10:Q78.2|Orphanet:2790|OMIM:144750 owl:Class HGNC:12765 biolink:NamedThing FOXN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014540 biolink:NamedThing white matter lamina of cerebellum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018658 biolink:NamedThing 19p13.3 microduplication syndrome 19p13.3 microduplication syndrome is a rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features. tmpaxzxjjyw_mondo_relaxed.owl dup(19)(p13.13) UMLS:CN237720|Orphanet:447980|ICD10:Q92.3|OMIM:613638 owl:Class MONDO:0024935 biolink:NamedThing foot rot A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see dichelobacter nodosus). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed) tmpaxzxjjyw_mondo_relaxed.owl foot Rots|Rots, foot|rot, foot MESH:D005535|UMLS:C0016513 owl:Class MONDO:0015248 biolink:NamedThing ataxia-photosensitivity-short stature syndrome Ataxia-photosensitivity-short stature syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. tmpaxzxjjyw_mondo_relaxed.owl Fenton-Wilkinson-Toselano syndrome UMLS:CN237421|Orphanet:1184 owl:Class UBERON:0007257 biolink:NamedThing intervertebral disk of sacral vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002691 biolink:NamedThing liver cancer An epithelial or non-epithelial malignant neoplasm that arises from the liver. Representative examples include hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and sarcoma. tmpaxzxjjyw_mondo_relaxed.owl malignant liver neoplasm|Ca liver - primary|ca liver - primary|primary cancer of liver|malignant neoplasm of liver, not specified as primary or secondary|primary liver cancer|Resectable malignant neoplasm of liver|resectable malignant neoplasm of the liver|liver cancer|primary malignant liver neoplasm|malignant hepato-biliary neoplasm|malignant neoplasm of liver|cancer of liver|primary malignant neoplasm of liver|non-resectable primary hepatic malignant neoplasm|malignant neoplasm of liver, primary|malignant tumor of liver|hepatic neoplasm|primary tumor of the liver|hepatic cancer DOID:3571|NCIT:C34803|ICD10:C22.9|ICD9:155.2|GARD:0006608|ICD10:C22.0|UMLS:C0024620|ICD9:155.0|UMLS:C0345904|SCTID:93870000|UMLS:C0854795 owl:Class NCBITaxon:1485168 biolink:NamedThing Longamoebia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010162 biolink:NamedThing post-anal tail tip tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002279 biolink:NamedThing mast cell activation involved in immune response The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors, leading to the initiation or perpetuation of an immune response. tmpaxzxjjyw_mondo_relaxed.owl mast cell activation during immune response owl:Class MONDO:0006339 biolink:NamedThing ovarian microcystic stromal tumor A benign, unilateral tumor that arises from the ovary and is characterized by the presence of conspicuous microcystic changes, cellular areas, and a fibrous stroma. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4054287|NCIT:C121953|EFO:1000424 owl:Class MONDO:0004829 biolink:NamedThing Krukenberg carcinoma Metastatic signet-ring cell carcinoma to the ovary. The primary site is the gastrointestinal tract or breast. tmpaxzxjjyw_mondo_relaxed.owl Krukenberg neoplasm|Krukenberg’s tumor|Krukenberg tumor NCIT:C3153|MESH:D007725|UMLS:C0022790|EFO:1000316|SCTID:359987004|DOID:9597|GARD:0008627 MONDO:0006261 owl:Class HGNC:15901 biolink:NamedThing IFT52 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015067 biolink:NamedThing amidinotransferase activity Catalysis of the reversible transfer of an amidino group to an acceptor. tmpaxzxjjyw_mondo_relaxed.owl transamidinase activity owl:Class GO:0016741 biolink:NamedThing transferase activity, transferring one-carbon groups Catalysis of the transfer of a one-carbon group from one compound (donor) to another (acceptor). tmpaxzxjjyw_mondo_relaxed.owl methyltransferase activity owl:Class MONDO:0013437 biolink:NamedThing retinitis pigmentosa 43 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene. tmpaxzxjjyw_mondo_relaxed.owl PDE6A retinitis pigmentosa|retinitis pigmentosa caused by mutation in PDE6A|RP43|retinitis pigmentosa 43|retinitis pigmentosa type 43 DOID:0110379|ICD10:H35.5|UMLS:C3151139|OMIM:613810 owl:Class ECTO:0000259 biolink:NamedThing exposure to glucocorticoid An exposure to glucocorticoid. tmpaxzxjjyw_mondo_relaxed.owl exposure to glucocorticoid owl:Class MONDO:0015588 biolink:NamedThing limbic encephalitis Limbic encephalitis represents a group of autoimmune conditions characterized by inflammation of the limbic system and other parts of the brain.The cardinal sign of limbic encephalitis is a severe impairment of short-term memory; however,symptoms may also include confusion, psychiatric symptoms, and seizures.The symptomstypically develop over a few weeks or months, but they may evolve over a few days. Limbic encephalitis is often associated with an underlying neoplasm (paraneoplastic limbic encephalitis); however some cases never have a neoplasm identified (non-paraneoplastic limbic encephalitis). Delayed diagnosis is common, but improvements are being made to assist in early detection. Various tests including imaging studies (MRI, PET) laboratory tests (CSF analysis), and tests that measure the electrical activity of the brain (EEG) may be utilized to confirm a diagnosis. Treatment includes removal of the neoplasm (if identified) and immunotherapy. tmpaxzxjjyw_mondo_relaxed.owl ICD9:323.9|MESH:D020363|SCTID:230192003|GARD:0008742|Orphanet:163892 https://rarediseases.info.nih.gov/diseases/8742/limbic-encephalitis owl:Class GO:2000146 biolink:NamedThing negative regulation of cell motility Any process that stops, prevents, or reduces the frequency, rate or extent of cell motility. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cell movement|negative regulation of movement of a cell|negative regulation of cell locomotion owl:Class UBERON:0004099 biolink:NamedThing joint space of elbow tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12786 biolink:NamedThing WNT7A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013720 biolink:NamedThing dartos muscle of labia majora tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011023 biolink:NamedThing hereditary mixed polyposis syndrome Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated. tmpaxzxjjyw_mondo_relaxed.owl HMPS|hereditary mixed polyposis syndrome ICD10:D12.6|OMIM:610069|Orphanet:157794|UMLS:CN240759|OMIM:601228|MESH:C563365|OMIMPS:601228|DOID:0111684 owl:Class MONDO:0007746 biolink:NamedThing orthostatic hypotensive disorder, Streeten type tmpaxzxjjyw_mondo_relaxed.owl OHDS|orthostatic hypotensive disorder|orthostatic hypotensive disorder, Streeten type|hyperbradykininism UMLS:C1840438|MESH:C564174|OMIM:143850 owl:Class MONDO:0002101 biolink:NamedThing facial nerve neoplasm A neoplasm involving a facial nerve. tmpaxzxjjyw_mondo_relaxed.owl facial nerve neoplasm|facial nerve tumor|facial nerve neoplasm (disease)|seventh cranial nerve neoplasms|tumor of facial nerve|neoplasm of seventh cranial nerve|neoplasm of the Facial nerve|tumor of the Facial nerve|VIIth cranial nerve neoplasms|tumor of the seventh cranial nerve|seventh cranial nerve tumors|facial nerve neoplasms|neoplasm of Facial nerve|tumor of Facial nerve|seventh cranial nerve neoplasm|VIIth cranial nerve tumors|neoplasm of the seventh cranial nerve|seventh cranial nerve tumor|neoplasm of facial nerve|tumor of seventh cranial nerve|facial nerve tumors NCIT:C5827|UMLS:C1263899|SCTID:126973004|DOID:1760|ICD9:239.7 owl:Class MONDO:0010563 biolink:NamedThing blue cone monochromacy Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia. tmpaxzxjjyw_mondo_relaxed.owl X-chromosome-linked achromatopsia|X-linked incomplete achromatopsia|color blindness blue mono cone monochromatic type|S cone monochromacy|CBBM|achromatopsia incomplete X-linked|color blindness, blue monocone monochromatic type|BCM|cone dystrophy 5, X-linked|atypical X-linked achromatopsia|S cone monochromatism|blue cone monochromacy|colorblindness, blue-Mono-cone-monochromatic type|blue cone monochromatism|X-linked achromatopsia incomplete|incomplete achromatopsia X-linked UMLS:CN036572|SCTID:24704003|DOID:0050679|ICD10:H53.5|GARD:0000917|MESH:C536238|OMIM:303700|Orphanet:16 https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism owl:Class GO:0048565 biolink:NamedThing digestive tract development The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed. tmpaxzxjjyw_mondo_relaxed.owl gut development|intestine development|intestinal development owl:Class GO:0035295 biolink:NamedThing tube development The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0100852 biolink:NamedThing Abnormal fear/anxiety-related behavior An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. tmpaxzxjjyw_mondo_relaxed.owl Abnormal fear/anxiety-related behaviour UMLS:C4018849 doelkens 2011-06-23T11:13:16Z HP:0001296 human_phenotype owl:Class HP:0031466 biolink:NamedThing Impairment in personality functioning A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. tmpaxzxjjyw_mondo_relaxed.owl 2017-09-17 16:30:45+00:00 The emergence of the self in childhood and adolescence is based on experience and perception, which then becomes organized into identity, which organizes further experience and perception. Identity is related to the individual's selfsameness and continuity in time. peter human_phenotype owl:Class MONDO:0005250 biolink:NamedThing placental villitis Inflammatory process that involves the chorionic villi (villitis) of the placenta. tmpaxzxjjyw_mondo_relaxed.owl EFO:0003110|SCTID:388604008|UMLS:C1270169 owl:Class MONDO:0021577 biolink:NamedThing malignant mediastinal neural neoplasm tmpaxzxjjyw_mondo_relaxed.owl malignant neuroma of mediastinum SCTID:278044006|UMLS:C0349665 owl:Class MONDO:0015337 biolink:NamedThing isolated craniosynostosis A craniosynostosis that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic craniosynostosis Orphanet:139390|ICD10:Q75.0|UMLS:C0010278 owl:Class ECTO:0000371 biolink:NamedThing exposure to oxygen molecular entity An exposure to oxygen molecular entity. tmpaxzxjjyw_mondo_relaxed.owl exposure to oxygen molecular entity owl:Class GO:0032838 biolink:NamedThing plasma membrane bounded cell projection cytoplasm All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008379 biolink:NamedThing retinitis pigmentosa 10 Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 10|retinitis pigmentosa type 10|retinitis pigmentosa caused by mutation in IMPDH1|IMPDH1 retinitis pigmentosa|RP10 UMLS:C1867299|ICD10:H35.5|DOID:0110388|OMIM:180105|MESH:C566715 owl:Class PATO:0001154 biolink:NamedThing elongated A quality inhering in a bearer by virtue of the bearer's length being notably higher than its width. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10817 biolink:NamedThing SGPL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008923 biolink:NamedThing autosomal recessive palmoplantar keratoderma and congenital alopecia Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. tmpaxzxjjyw_mondo_relaxed.owl PPKCA2|cataract, alopecia, sclerodactyly syndrome|autosomal recessive palmoplantar hyperkeratosis and congenital alopecia|palmoplantar keratoderma and congenital alopecia type 2|Ppkca, Wallis type|cataract-alopecia-sclerodactyly syndrome|cass|cataract, alopecia, sclerodactyly|palmoplantar keratoderma and congenital alopecia 2|PPK-CA, Wallis type|palmoplantar keratoderma and congenital alopecia, Wallis type UMLS:C1859316|DOID:0111245|GARD:0001139|OMIM:212360|ICD10:Q82.8|Orphanet:1366|MESH:C535336|ICD10:Q84.0 https://rarediseases.info.nih.gov/diseases/1139/autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia owl:Class GO:0032058 biolink:NamedThing positive regulation of translational initiation in response to stress Any process that activates or increases the frequency, rate or extent of translation initiation as a result of a stimulus indicating the organism is under stress. tmpaxzxjjyw_mondo_relaxed.owl stimulation of translation initiation in response to stress|up regulation of translation initiation in response to stress|upregulation of translation initiation in response to stress|activation of translation initiation in response to stress|up-regulation of translation initiation in response to stress owl:Class GO:0045948 biolink:NamedThing positive regulation of translational initiation Any process that activates or increases the frequency, rate or extent of translational initiation. tmpaxzxjjyw_mondo_relaxed.owl upregulation of translational initiation|up regulation of translational initiation|stimulation of translational initiation|activation of translational initiation|up-regulation of translational initiation owl:Class MONDO:0018888 biolink:NamedThing congenital cornea plana tmpaxzxjjyw_mondo_relaxed.owl Orphanet:53691|OMIM:121400|ICD10:Q13.4|OMIM:217300 owl:Class MONDO:0000733 biolink:NamedThing cornea plana tmpaxzxjjyw_mondo_relaxed.owl flat cornea ICD10:Q13.4|HP:0007720|OMIM:217300|DOID:0060287|SCTID:204145006|Orphanet:53691|OMIM:121400|OMIMPS:121400 owl:Class MONDO:0008742 biolink:NamedThing autosomal dominant severe congenital neutropenia Autosomal dominant form of severe congenital neutropenia. tmpaxzxjjyw_mondo_relaxed.owl severe congenital neutropenia autosomal dominant|severe congenital neutropenia, autosomal dominant OMIM:613107|ICD10:D70|OMIM:202700|OMIM:257100|GARD:0009558|UMLS:C1859966|Orphanet:486 https://rarediseases.info.nih.gov/diseases/9558/severe-congenital-neutropenia-autosomal-dominant owl:Class PATO:0002143 biolink:NamedThing sloped downward tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001626 biolink:NamedThing Abnormality of the cardiovascular system Any abnormality of the cardiovascular system. tmpaxzxjjyw_mondo_relaxed.owl Cardiovascular disease|Abnormality of the cardiovascular system|Cardiovascular abnormality UMLS:C0243050|MSH:D018376|MSH:D002318|SNOMEDCT_US:49601007|UMLS:C0007222 The cardiovascular system consists of the heart, vasculature, and the lymphatic system. human_phenotype owl:Class MONDO:0015235 biolink:NamedThing arachnodactyly-intellectual disability-dysmorphism syndrome Arachnodactyly-intellectual disability-dysmorphism syndrome is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus with extremely long, thin fingers and toes, and hypoplastic external genitalia. It has been described in three patients. tmpaxzxjjyw_mondo_relaxed.owl De Die-Smulders-Vles-Fryns syndrome|arachnodactyly - intellectual disability - dysmorphism Orphanet:1130|GARD:0000764|ICD10:Q87.8|SCTID:720502000|UMLS:CN197590 owl:Class MONDO:0012009 biolink:NamedThing coronary heart disease, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl coronary heart disease, susceptibility to, 2|coronary heart disease, susceptibility to, type 2|Chds2 OMIM:608316|UMLS:C1842260 owl:Class HGNC:7551 biolink:NamedThing MYBPC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000895 biolink:NamedThing naive thymus-derived CD4-positive, alpha-beta T cell An antigen inexperienced CD4-positive, alpha-beta T cell with the phenotype CCR7-positive, CD127-positive and CD62L-positive. This cell type develops in the thymus. This cell type is also described as being CD25-negative, CD62L-high, and CD44-low. tmpaxzxjjyw_mondo_relaxed.owl naive thymus-derived CD4-positive, alpha-beta T-cell|Th0|naive thymus-derived CD4-positive, alpha-beta T-lymphocyte|T.4Nve.Sp|naive thymus-derived CD4-positive, alpha-beta T lymphocyte|naive CD4+ T cell These cells have not been exposed to antigen following thymic T-cell selection; found in blood and secondary lymphoid organs. This cell type is compatible with the HIPC Lyoplate markers for 'naive CD4+ T cell', but includes additional markers known to be expressed on naive CD4+ T cells. cell owl:Class MONDO:0017778 biolink:NamedThing lamellar ichthyosis A keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma. tmpaxzxjjyw_mondo_relaxed.owl classic lamellar ichthyosis|congenital lamellar ichthyosis|LI MESH:D017490|NCIT:C84805|OMIM:242300|OMIM:606545|OMIM:612281|OMIM:601277|MedDRA:10023686|OMIM:146750|OMIM:604777|Orphanet:313|ICD10:Q80.2|GARD:0010803|OMIM:613943 https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0014056 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 9 tmpaxzxjjyw_mondo_relaxed.owl melanoma, cutaneous malignant, susceptibility to, type 9|susceptibility to cutaneous malignant melanoma 9|melanoma, cutaneous malignant, susceptibility to, 9|CMM9 OMIM:615134|Orphanet:618 owl:Class MONDO:0018793 biolink:NamedThing primary condylar hyperplasia tmpaxzxjjyw_mondo_relaxed.owl type 1 condylar hyperplasia Orphanet:477781 owl:Class MONDO:0016221 biolink:NamedThing temporomandibular joint anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:210581 owl:Class MONDO:0008907 biolink:NamedThing PMM2-CDG PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults. tmpaxzxjjyw_mondo_relaxed.owl CDG1A|phosphomannomutase 2 deficiency|CDG 1A|congenital disorder of glycosylation type Ia|carbohydrate-deficient glycoprotein syndrome, type Ia|Jaeken syndrome|PMM2-CDG|carbohydrate deficient glycoprotein syndrome type Ia|carbohydrate-deficient glycoprotein syndrome type 1A|carbohydrate-deficient glycoprotein syndrome, type Ia, formerly|CDG-IA|congenital disorder of glycosylation, type Ia|carbohydrate-deficient glycoprotein syndrome type 1A (formerly)|CDG syndrome type Ia|congenital disorder of glycosylation type 1a|PMM2-CDG (CDG-Ia) DOID:0080552|NCIT:C126868|UMLS:C0349653|GARD:0009826|SCTID:459063003|MESH:C535739|Orphanet:79318|ICD10:E77.8|OMIM:212065 owl:Class MONDO:0004483 biolink:NamedThing thyroid gland oncocytic adenoma A thyroid gland adenoma composed of large cells with abundant granular eosinophilic cytoplasm and large nuclei with prominent nucleoli. tmpaxzxjjyw_mondo_relaxed.owl thyroid follicular adenoma of oxyphilic cell type|thyroid gland oncocytic adenoma|OAT|Hurthle cell adenoma of thyroid gland|benign oncocytoma of the thyroid gland|thyroid follicular adenoma of the oxyphilic cell type|benign thyroid gland oncocytoma|Hurthle cell adenoma of thyroid|follicular adenoma of the thyroid of the oxyphilic cell type|benign oncocytoma of thyroid|thyroid Hurthle cell adenoma|follicular adenoma of thyroid of oxyphilic cell type|oncocytic adenoma of the thyroid gland|benign oncocytoma of the thyroid|oncocytic adenoma of thyroid|thyroid oncocytic adenoma|Hurthle cell adenoma|Hurthle cell adenoma of the thyroid gland|thyroid gland Hurthle cell adenoma|thyroid gland follicular adenoma of the oxyphilic cell type|follicular adenoma of thyroid gland of oxyphilic cell type|benign thyroid oncocytoma|oncocytic adenoma of thyroid gland|follicular adenoma of the thyroid gland of the oxyphilic cell type|Hurthle cell adenoma of the thyroid|thyroid gland follicular adenoma of oxyphilic cell type|benign oncocytoma of thyroid gland|oncocytic adenoma of the thyroid ONCOTREE:OAT|DOID:8162|UMLS:C1336750|NCIT:C6042 owl:Class MONDO:0005032 biolink:NamedThing follicular thyroid adenoma A benign, encapsulated tumor, arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics. tmpaxzxjjyw_mondo_relaxed.owl follicular adenoma (morphologic abnormality)|follicular adenoma of the thyroid gland|thyroid gland adenoma|follicular adenoma of the thyroid|thyroid follicular adenoma|follicular adenoma of thyroid|follicular thyroid adenoma|adenoma of thyroid gland|thyroid follicle adenoma|thyroid gland follicular adenoma|adenoma of the thyroid|follicular adenoma of thyroid gland|adenoma of the thyroid gland|adenoma of thyroid|thyroid adenoma|follicular adenoma|adenoma, follicular cell, benign UMLS:C0151468|MESH:D000236|EFO:0000499|DOID:6204|UMLS:C0205647|SCTID:255034006|ICDO:8330/0|NCIT:C3502 owl:Class MONDO:0015326 biolink:NamedThing night blindness-skeletal anomalies-dysmorphism syndrome This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia). tmpaxzxjjyw_mondo_relaxed.owl Hunter-Thompson-Reed syndrome|Hunter Thompson Reed syndrome Orphanet:1390|ICD10:Q87.8|GARD:0003994|UMLS:CN199356 https://rarediseases.info.nih.gov/diseases/3994/night-blindness-skeletal-anomalies-dysmorphism-syndrome owl:Class MONDO:0016976 biolink:NamedThing well-differentiated thymic neuroendocrine carcinoma tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202278|Orphanet:263331|SCTID:717922007|ICD10:C37 owl:Class GO:1901292 biolink:NamedThing nucleoside phosphate catabolic process The chemical reactions and pathways resulting in the breakdown of a nucleoside phosphate. tmpaxzxjjyw_mondo_relaxed.owl nucleoside phosphate breakdown|nucleoside phosphate degradation|nucleoside phosphate catabolism owl:Class MONDO:0011615 biolink:NamedThing East Texas bleeding disorder tmpaxzxjjyw_mondo_relaxed.owl Bdet|bleeding disorder, EAST Texas type OMIM:605913|Orphanet:391320|MESH:C565275|UMLS:C1853831|ICD10:D68.2 owl:Class GO:1900015 biolink:NamedThing regulation of cytokine production involved in inflammatory response Any process that modulates the frequency, rate or extent of cytokine production involved in inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl regulation of cytokine production involved in acute inflammatory response owl:Class MONDO:0013391 biolink:NamedThing sterol carrier protein 2 deficiency A peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. tmpaxzxjjyw_mondo_relaxed.owl sterol carrier protein 2 deficiency|leukoencephalopathy - dystonia - motor neuropathy|leukoencephalopathy-dystonia-motor neuropathy syndrome|SCP2 deficiency|LKDMN|leukoencephalopathy with dystonia and motor neuropathy UMLS:C3150990|GARD:0012471|OMIM:613724|Orphanet:163684|ICD10:E75.2 owl:Class MONDO:0015874 biolink:NamedThing benign ductal tumor of breast tmpaxzxjjyw_mondo_relaxed.owl ICD10:D24|Orphanet:180284|UMLS:CN200479 owl:Class MONDO:0000677 biolink:NamedThing semantic agnosia An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060147 owl:Class MONDO:0005112 biolink:NamedThing malignant pleural mesothelioma A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive. tmpaxzxjjyw_mondo_relaxed.owl pleural malignant mesothelioma|malignant pleural mesothelioma|malignant mesothelioma of pleura|pleura mesothelioma|pleural diffuse malignant mesothelioma|malignant mesothelioma of the pleura ICD10:C45.0|DOID:7474|EFO:0000770|NCIT:C7376|UMLS:C0812413|SCTID:254645002 owl:Class MONDO:0006294 biolink:NamedThing pleural cancer A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of the pleura|pleural cancer|malignant pleura neoplasm|pleura cancer|malignant pleural tumor|malignant neoplasm of pleura|cancer of the pleura|cancer of pleura|neoplasm of pleura|malignant pleural neoplasm|malignant tumor of pleura|pleural tumor|malignant neoplasm of the pleura ICD9:163.9|SCTID:126719004|SCTID:363433009|UMLS:C0032229|NCIT:C3332|ICD10:C38.4|EFO:1000362|ICD9:163.8|UMLS:C0153494|ICD9:163|NCIT:C3547|DOID:5158 owl:Class MONDO:0007467 biolink:NamedThing DNA, low-repetitive sequences of tmpaxzxjjyw_mondo_relaxed.owl repetitive sequence DNA|DNA, low-repetitive sequences of OMIM:126390 Editor note: TODO check owl:Class HGNC:1736 biolink:NamedThing CDC42 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011814 biolink:NamedThing Smith-McCort dysplasia 1 Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene. tmpaxzxjjyw_mondo_relaxed.owl Smith-McCort dysplasia 1|SMC|Smc1|SMITH-McCort dysplasia 1|Smith-McCort dysplasia type 1|DYM Smith-McCort dysplasia|Smith-McCort dysplasia caused by mutation in DYM OMIM:607326|UMLS:C3888088|Orphanet:178355 owl:Class MONDO:0017222 biolink:NamedThing Pelizaeus-Merzbacher disease, classic form The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD. tmpaxzxjjyw_mondo_relaxed.owl classic PMD ICD10:E75.2|SCTID:87607002|Orphanet:280219 owl:Class CL:0000355 biolink:NamedThing multi-potent skeletal muscle stem cell A multifate stem cell found in skeletal muscle than can differentiate into many different cell types, including muscle. Distinct cell type from satellite cell. tmpaxzxjjyw_mondo_relaxed.owl FMA:86767 Multi-potency demonstrated ex vivo. At the time of writing, it is unclear whether the endogenous population differentiates into multiple cell types in vivo. cell owl:Class MONDO:0003304 biolink:NamedThing plexiform neurofibroma An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.) tmpaxzxjjyw_mondo_relaxed.owl plexiform neurofibroma (disease)|plexiform neurofibroma plexiform neurofibroma (disease) MESH:D018318|ICDO:9550/0|EFO:0000658|ICD9:215.9|UMLS:C0206728|NCIT:C3797|DOID:5151|HP:0009732|SCTID:403818001 owl:Class MONDO:0016755 biolink:NamedThing neurofibroma An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors. tmpaxzxjjyw_mondo_relaxed.owl neurofibroma, benign|neurofibroma (WHO grade I)|NFIB|neurofibroma ICD9:215.9|EFO:0000622|NCIT:C3272|ONCOTREE:NFIB|SCTID:404029005|Orphanet:252183|MESH:D009455|MedDRA:10029267|UMLS:C0027830|ICDO:9540/0|GARD:0007191|DOID:962 https://rarediseases.info.nih.gov/diseases/7191/neurofibroma owl:Class MONDO:0004460 biolink:NamedThing thyroid gland fetal adenoma A thyroid gland adenoma composed of microfollicular structures. tmpaxzxjjyw_mondo_relaxed.owl microfollicular adenoma (morphologic abnormality)|thyroid fetal adenoma|microfollicular adenoma|thyroid gland microfollicular adenoma NCIT:C4160|DOID:8102|ICDO:8333/0|UMLS:C0334328 owl:Class MONDO:0024504 biolink:NamedThing enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor A usually slow-growing, grade 1 pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver, it produces the clinical symptoms of the carcinoid syndrome. tmpaxzxjjyw_mondo_relaxed.owl carcinoid tumor of the pancreas|serotonin-producing tumor of pancreas|EC cell, serotonin producing pancreatic neuroendocrine tumor|EC cell, serotonin producing pancreatic NET|pancreatic serotonin producing neoplasm|serotonin-producing pancreatic NET|carcinoid neoplasm of pancreas|serotonin-producing tumor of the pancreas|carcinoid tumor of pancreas|carcinoid neoplasm of the pancreas|pancreatic serotonin producing tumor|serotonin-producing PNET|serotonin-producing pancreatic neuroendocrine tumor|serotonin-producing neuroendocrine tumor of pancreas|enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor|pancreatic carcinoid tumor NCIT:C4446|Orphanet:506090 owl:Class MONDO:0003353 biolink:NamedThing heart leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the heart. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl Cardiac leiomyosarcoma|leiomyosarcoma of the heart|leiomyosarcoma of heart|heart leiomyosarcoma NCIT:C5364|DOID:5261|UMLS:C1332848 owl:Class GO:1903509 biolink:NamedThing liposaccharide metabolic process The chemical reactions and pathways involving liposaccharide. tmpaxzxjjyw_mondo_relaxed.owl liposaccharide metabolism owl:Class MONDO:0011109 biolink:NamedThing multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus. tmpaxzxjjyw_mondo_relaxed.owl multiple epiphyseal dysplasia with Robin phenotype|epiphyseal dysplasia, multiple, with Robin phenotype|multiple epiphyseal dysplasia with ROBIN phenotype ICD10:Q78.8|Orphanet:166016|OMIM:601560|MESH:C563291|UMLS:C1832112|SCTID:768935003 owl:Class MONDO:0013643 biolink:NamedThing hyperuricemic nephropathy, familial juvenile type 3 tmpaxzxjjyw_mondo_relaxed.owl HNFJ3|hyperuricemic nephropathy, familial juvenile, 3 OMIM:614227|UMLS:C3280216 owl:Class MONDO:0013302 biolink:NamedThing nephronophthisis 11 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. tmpaxzxjjyw_mondo_relaxed.owl nephronophthisis 11|NPHP11|nephronophthisis type 11 OMIM:613550|Orphanet:84081|DOID:0111118|UMLS:C3150796 owl:Class MONDO:0019394 biolink:NamedThing Senior-Boichis syndrome Boichis syndrome consists of the association of congenital nephronophthisis leading to renal failure, and hepatic fibrosis. It has been described in five members of one family, two of whom died from renal failure. The association of Boichis syndrome with tapetoretinal degeneration and intellectual deficit has also been reported in one family: the so-called Senior-Boichis syndrome could be in fact the same entity, and was later reported in a 12 year-old child. tmpaxzxjjyw_mondo_relaxed.owl nephronophthisis-hepatic fibrosis syndrome|Boichis disease Orphanet:84081|OMIM:616217|SCTID:717187000|UMLS:CN206093|OMIM:613550 owl:Class MONDO:0010129 biolink:NamedThing thymic-renal-anal-lung dysplasia This syndrome is characterised by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. tmpaxzxjjyw_mondo_relaxed.owl thymic-renal-anal-lung dysplasia|syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR) UMLS:C1848812|GARD:0005202|MESH:C536907|OMIM:274265|Orphanet:3326|ICD10:Q87.8|SCTID:723555007 https://rarediseases.info.nih.gov/diseases/5202/thymic-renal-anal-lung-dysplasia owl:Class MONDO:0016009 biolink:NamedThing fetal trimethadione syndrome Fetal trimethadione syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265373|MESH:C537798|ICD9:759.89|ICD10:Q86.8|SCTID:66351003|Orphanet:1913 owl:Class MONDO:0013268 biolink:NamedThing frontonasal dysplasia with alopecia and genital anomaly Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism. tmpaxzxjjyw_mondo_relaxed.owl frontonasal dysplasia 2|frontonasal dysplasia with alopecia and genital abnomality|FND2|ALX4-related FNDAG|craniofrontonasal dysplasia with alopecia and hypogonadism|frontonasal dysplasia type 2 Orphanet:228390|UMLS:C3150703|SCTID:725029001|OMIM:613451|GARD:0012641|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/12641/frontonasal-dysplasia-with-alopecia-and-genital-anomaly owl:Class UBERON:0034726 biolink:NamedThing trunk taste bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015164 biolink:NamedThing acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent is a subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). tmpaxzxjjyw_mondo_relaxed.owl AML and myelodysplastic syndromes related to alkylating agent ICD10:C92.8|UMLS:CN197504|Orphanet:102379 owl:Class MONDO:0009496 biolink:NamedThing Kniest-like dysplasia with pursed lips and ectopia lentis tmpaxzxjjyw_mondo_relaxed.owl burton syndrome|Kniest-like dysplasia with pursed lips and ectopia lentis UMLS:C1855606|OMIM:245160|GARD:0010512 owl:Class UBERON:0009881 biolink:NamedThing anterior lateral plate mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:204429 biolink:NamedThing Chlamydiia tmpaxzxjjyw_mondo_relaxed.owl Chlamydiae PMID:26179278|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:204428 biolink:NamedThing Chlamydiae tmpaxzxjjyw_mondo_relaxed.owl Chlamydaeota|Chlamydiota PMID:26654112|PMID:24185849|PMID:29458499|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0012737 biolink:NamedThing long QT syndrome 10 Any long QT syndrome in which the cause of the disease is a mutation in the SCN4B gene. tmpaxzxjjyw_mondo_relaxed.owl atrial fibrillation, familial, 17|long QT syndrome 10|long QT syndrome type 10|SCN4B long QT syndrome|long QT syndrome caused by mutation in SCN4B|LQT10 ICD10:I45.8|Orphanet:101016|UMLS:C2678484|MESH:C567514|Orphanet:768|OMIM:611819|DOID:0110651|GARD:0010436|Orphanet:334 https://rarediseases.info.nih.gov/diseases/10436/long-qt-syndrome-10 owl:Class NCBITaxon:431838 biolink:NamedThing Intramacronucleata tmpaxzxjjyw_mondo_relaxed.owl GC_ID:6 ncbi_taxonomy owl:Class UBERON:0014392 biolink:NamedThing sweat of palm tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051155 biolink:NamedThing positive regulation of striated muscle cell differentiation Any process that activates or increases the frequency, rate or extent of striated muscle cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl stimulation of striated muscle cell differentiation|upregulation of striated muscle cell differentiation|up-regulation of striated muscle cell differentiation|up regulation of striated muscle cell differentiation|activation of striated muscle cell differentiation owl:Class GO:0014821 biolink:NamedThing phasic smooth muscle contraction A process in which force is generated within phasic smooth muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the phasic smooth muscle, the muscle contraction occurs without an ordered sarcomeric structure. Phasic smooth muscle contraction occurs in a series of discrete contractions and relaxations. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021509 biolink:NamedThing benign neoplasm of myocardium A benign neoplasm that involves the myocardium. tmpaxzxjjyw_mondo_relaxed.owl benign myocardial neoplasm|myocardium benign neoplasm|benign tumor of the myocardium|benign tumor of myocardium|benign neoplasm of the myocardium|benign myocardial tumor SCTID:92238001|NCIT:C4607|UMLS:C0347253 owl:Class MONDO:0011779 biolink:NamedThing laryngeal atresia, encephalocele, and limb deformities tmpaxzxjjyw_mondo_relaxed.owl Lel|laryngeal atresia, encephalocele, and limb deformities OMIM:607132|UMLS:C1846721|MESH:C564620 owl:Class UBERON:0009477 biolink:NamedThing associated mesenchyme of otic placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060322 biolink:NamedThing head development The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012089 biolink:NamedThing ichthyosis prematurity syndrome Ichthyosis prematurity syndrome is a rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy. tmpaxzxjjyw_mondo_relaxed.owl ichthyosis congenita 4|congenital ichthyosis type 4|ichthyosis-prematurity syndrome|idiopathic pneumonia syndrome|IPS|ichthyosis prematurity syndrome|ichthyosis congenita IV SCTID:12381000132107|MESH:C536271|Orphanet:88621|GARD:0009886|UMLS:C1837610|OMIM:608649|UMLS:C1504431|NCIT:C62590 https://rarediseases.info.nih.gov/diseases/9886/ichthyosis-prematurity-syndrome owl:Class MONDO:0700003 biolink:NamedThing obstetric disorder Disorder associated with pregnancy, childbirth, and puerperium. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0018453 biolink:NamedThing familial atypical multiple mole melanoma syndrome tmpaxzxjjyw_mondo_relaxed.owl melanoma-pancreatic cancer syndrome|familial atypical multiple mole melanoma-pancreatic carcinoma syndrome|familial atypical mole melanoma syndrome|B-K mole syndrome|FAMM-PC syndrome|familial dysplastic nevus syndrome|familial Clark nevus syndrome|FAMM syndrome|FAMMM syndrome|familial atypical mole syndrome NCIT:C27264|ICD10:D22.9|OMIM:155600|Orphanet:404560|OMIM:606719 owl:Class NCBITaxon:693997 biolink:NamedThing Alphacoronavirus 1 tmpaxzxjjyw_mondo_relaxed.owl Alphacoronavirus-1 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2509514 biolink:NamedThing Tegacovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:2000252 biolink:NamedThing negative regulation of feeding behavior Any process that stops, prevents or reduces the frequency, rate or extent of feeding behavior. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of eating|negative regulation of behavioral response to food|negative regulation of behavioural response to food|negative regulation of feeding behaviour|negative regulation of drinking owl:Class GO:0044272 biolink:NamedThing sulfur compound biosynthetic process The chemical reactions and pathways resulting in the formation of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. tmpaxzxjjyw_mondo_relaxed.owl sulfur biosynthesis|sulfur biosynthetic process|sulfur compound formation|sulfur compound anabolism|sulfur compound biosynthesis|sulfur compound synthesis owl:Class MONDO:0018689 biolink:NamedThing plasma cell leukemia An aggressive plasma cell neoplasm characterized by the presence of neoplastic plasma cells in the peripheral blood. It is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count. tmpaxzxjjyw_mondo_relaxed.owl leukemia, plasma cell|leukemia plasmacytic|plasmacytic leukemia|PCL|plasma cell leukemia ICDO:9733/3|DOID:9513|GARD:0009373|Orphanet:454714|ICD10:C90.10|ICD9:203.1|SCTID:95210003|MESH:D007952|ICD9:203.10|EFO:0006475|ICD10:C90.1|UMLS:C0023484|NCIT:C3180 https://rarediseases.info.nih.gov/diseases/9373/plasma-cell-leukemia owl:Class MONDO:0012061 biolink:NamedThing familial sick sinus syndrome Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients. tmpaxzxjjyw_mondo_relaxed.owl sick sinus syndrome 1, autosomal recessive|hereditary sick sinus syndrome|SSS1|familial sinus node dysfunction MESH:C563907|ICD10:I49.5|SCTID:233913007|OMIM:163800|MedDRA:10040639|MESH:D012804|OMIM:182190|OMIM:614090|OMIMPS:608567|Orphanet:166282|OMIM:608567 owl:Class MONDO:0006131 biolink:NamedThing cerebellar liponeurocytoma A rare, WHO grade II cerebellar neoplasm which shows consistent neuronal, variable astrocytic and focal lipomatous differentiation. It occurs in adults, has a low proliferative potential and usually has a favorable prognosis. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl lipomatous medulloblastoma|cerebellar liponeurocytoma (WHO grade II)|cerebellar liponeurocytoma|lipomatous medulloblastoma (formerly)|CLNC EFO:1000159|GARD:0010642|NCIT:C6905|ICDO:0000/0|UMLS:C1370507|DOID:6458|ONCOTREE:CLNC|SCTID:716592003|Orphanet:251931 https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma owl:Class MONDO:0002913 biolink:NamedThing cerebellar neoplasm A benign or malignant (primary or metastatic) tumor involving the cerebellum. -- 2003 tmpaxzxjjyw_mondo_relaxed.owl cerebellum neoplasm (disease)|malignant tumor of cerebellum|cerebellum cancer|cerebellar tumor|tumor of cerebellum|tumor of the cerebellum|neoplasm of the cerebellum|neoplasm of cerebellum|cerebellar neoplasm|cerebellum neoplasm|cerebellum tumor ICD10:C71.6|SCTID:449420002|NCIT:C3569|SCTID:126960003|MESH:D002528|UMLS:C0007762|DOID:4205|NCIT:C2935|ICD9:191.6 owl:Class MONDO:0007620 biolink:NamedThing fish eye disease Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. tmpaxzxjjyw_mondo_relaxed.owl alpha-LCAT deficiency|alpha-lecithin cholesterol acyltransferase deficiency|alpha-lecithin:cholesterol acyltransferase deficiency|dyslipoproteinemic corneal dystrophy|fish-eye disease|fed|fish eye disease|partial LCAT deficiency|LCATA deficiency SCTID:238092004|GARD:0006450|ICD10:E78.6|Orphanet:650|OMIM:136120|UMLS:C0342895|Orphanet:79292 https://rarediseases.info.nih.gov/diseases/6450/fish-eye-disease owl:Class MONDO:0020232 biolink:NamedThing musculoskeletal disease with cataract tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN207060|Orphanet:98648 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: musculoskeletal system disease' MONDO_0002081 owl:Class GO:1900543 biolink:NamedThing negative regulation of purine nucleotide metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of purine nucleotide metabolic process. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of purine nucleotide metabolism|down regulation of purine metabolic process|negative regulation of purine metabolic process|down-regulation of purine nucleotide metabolism|down-regulation of purine metabolic process|inhibition of purine nucleotide metabolic process|inhibition of purine metabolic process|downregulation of purine nucleotide metabolism|downregulation of purine metabolic process|down regulation of purine metabolism|negative regulation of purine metabolism|down regulation of purine nucleotide metabolic process|inhibition of purine metabolism|down-regulation of purine nucleotide metabolic process|down-regulation of purine metabolism|downregulation of purine nucleotide metabolic process|inhibition of purine nucleotide metabolism|downregulation of purine metabolism|down regulation of purine nucleotide metabolism owl:Class HP:0100511 biolink:NamedThing Abnormality of vitamin D metabolism tmpaxzxjjyw_mondo_relaxed.owl Abnormality of vitamin D metabolism UMLS:C4022035 doelkens 2010-12-17T06:19:15Z human_phenotype owl:Class MONDO:0016259 biolink:NamedThing carcinosarcoma of the corpus uteri An aggressive malignant mixed epithelial and mesenchymal tumor that arises from the uterine corpus. It usually affects elderly postmenopausal women and presents with vaginal bleeding. It is characterized by the presence of a malignant epithelial component that is usually glandular and a sarcomatous component. tmpaxzxjjyw_mondo_relaxed.owl uterine corpus carcinosarcoma|uterine corpus malignant mixed mesodermal tumor|malignant mixed mesodermal tumor of the uterine corpus|uterine body carcinosarcoma|uterine malignant mixed mesodermal neoplasm|malignant mixed Müllerian tumor of the corpus uteri|uterine corpus malignant mixed Mullerian tumor|uterine body malignant mixed mesodermal neoplasm|uterine malignant mixed mesodermal tumor|malignant mixed mesodermal tumor of the uterus|carcinosarcoma of uterine body|uterine carcinosarcoma|uterine corpus malignant mixed mesodermal (Mullerian) tumor|malignant mixed müllerian tumor of corpus uteri|malignant mixed mesodermal neoplasm of the uterine body|malignant mixed mesodermal neoplasm of uterine corpus|mixed Müllerian sarcoma of uterus|uterine corpus malignant mixed mesodermal (Müllerian) tumor|uterine mixed Müllerian sarcoma|mixed Mullerian cancer of corpus uteri|malignant mixed mesodermal neoplasm of uterine body|malignant mixed mesodermal neoplasm of uterus|carcinosarcoma of uterus|malignant mixed mesodermal tumor of uterine corpus|body of uterus carcinosarcoma|carcinosarcoma of the corpus uteri|uterine corpus malignant mixed Mullerian neoplasm|corpus uteri malignant mixed mesodermal tumor|carcinosarcoma of the uterus|carcinosarcoma of corpus uteri|malignant mixed mesodermal tumor of uterus|mixed Mullerian sarcoma of the uterus|mixed Müllerian sarcoma of the uterus|malignant mixed mesodermal tumor of uterine body|mixed Mullerian sarcoma of uterus|uterine corpus malignant mixed Müllerian tumor|malignant mixed mesodermal tumor of the uterine body|carcinosarcoma of the uterine corpus|carcinosarcoma of the uterine body|carcinosarcoma of uterine corpus|uterine body malignant mixed mesodermal tumor|malignant mixed mesodermal neoplasm of the uterus|malignant mixed mesodermal neoplasm of the uterine corpus|uterine corpus malignant mixed Müllerian neoplasm|mixed Müllerian cancer of corpus uteri|uterine corpus malignant mixed mesodermal neoplasm|malignant mixed Mullerian tumor of the corpus uteri|uterine mixed Mullerian sarcoma Orphanet:213610|GARD:0012335|ICD10:C54.9|NCIT:C9180 owl:Class MONDO:0006485 biolink:NamedThing uterine carcinosarcoma A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma. tmpaxzxjjyw_mondo_relaxed.owl uterine malignant mixed mesodermal (Müllerian) tumor|malignant mixed mesodermal (Müllerian) tumor of the uterus|uterine carcinosarcoma|malignant mixed mesodermal (Mullerian) tumor of the uterus|mixed mullerian sarcoma of uterus|uterine malignant mixed mesodermal (Mullerian) tumor|uterus carcinosarcoma|carcinosarcoma of the uterus|uterine carcinosarcoma/uterine malignant mixed mullerian tumor DOID:6171|MESH:D012192|EFO:1000613|UMLS:C0280630|NCIT:C42700|ONCOTREE:UCS|SCTID:702369008 owl:Class MONDO:0016401 biolink:NamedThing energy metabolism disorder with epilepsy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:225696|UMLS:CN226915 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn disorder of energy metabolism' MONDO_0019243 owl:Class MONDO:0016601 biolink:NamedThing adult-onset citrullinemia type I Adult-onset citrullinemia type I is a form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur. tmpaxzxjjyw_mondo_relaxed.owl adult-onset citrullinemia type 1|late-onset citrullinemia type I|late-onset citrullinemia type 1 UMLS:CN201794|Orphanet:247573|ICD10:E72.2 owl:Class MONDO:0011144 biolink:NamedThing ceroid lipofuscinosis, neuronal, 6A A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpaxzxjjyw_mondo_relaxed.owl vLINCL|ceroid lipofuscinosis, neuronal, type 6|ceroid lipofuscinosis, neuronal, 6, variable age at onset|neuronal ceroid lipofuscinosis 6 variable age of onset|CLN6 disease, adult Kufs type A (subtype)|neuronal ceroid lipofuscinosis 6|neuronal ceroid lipofuscinosis type 6|neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant|CLN6A|ceroid lipofuscinosis, neuronal, 6|CLN6 disease, late infantile (subtype)|neuronal ceroid lipofuscinosis, late infantile, variant|CLN6|CLN6 disease|CLN6 late infantile neuronal ceroid lipofuscinosis|late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6 ICD10:E75.4|GARD:0001224|MESH:C566627|Orphanet:228363|DOID:0110729|Orphanet:79262|Orphanet:168491|OMIM:601780 https://rarediseases.info.nih.gov/diseases/1224/neuronal-ceroid-lipofuscinosis-6 owl:Class MONDO:0019374 biolink:NamedThing CAMOS syndrome CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl CAMOS|cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities|SCAR5|cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome|spinocerebellar ataxia autosomal recessive 5|cerebellar ataxia with mental retardation optic atrophy and skin abnormalities GARD:0009977|Orphanet:83472|UMLS:C4511633|ICD10:G11.1|UMLS:C1847114|SCTID:726031001 owl:Class MONDO:0020043 biolink:NamedThing autosomal recessive congenital cerebellar ataxia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98095 owl:Class MONDO:0021473 biolink:NamedThing benign neoplasm of epididymis A benign neoplasm that involves the epididymis. tmpaxzxjjyw_mondo_relaxed.owl benign epididymal tumor|benign epididymal neoplasm|benign tumor of epididymis|benign neoplasm of the epididymis|benign tumor of the epididymis|epididymis benign neoplasm NCIT:C3614|UMLS:C0154010|SCTID:92088003|ICD9:222.3 owl:Class MONDO:0003283 biolink:NamedThing epididymal neoplasm A benign or malignant neoplasm that affects the epididymis. Representative examples include epididymal adenomatoid tumor and epididymal adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl epididymis neoplasm (disease)|neoplasm of epididymis|tumor of epididymis|neoplasm of epididymus|epididymis neoplasm|epididymis tumor|epididymal neoplasm SCTID:126902008|UMLS:C0346239|NCIT:C39958|DOID:512|ICD9:239.5 owl:Class MONDO:0010311 biolink:NamedThing Becker muscular dystrophy Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle. tmpaxzxjjyw_mondo_relaxed.owl Becker's muscular dystrophy|benign pseudohypertrophic muscular dystrophy|Becker muscular dystrophy|muscular dystrophy pseudohypertrophic progressive, Becker type|muscular dystrophy, Becker type|benign congenital myopathy|muscular dystrophy, pseudohypertrophic progressive, Becker type|BMD|Becker dystrophinopathy UMLS:C3490459|OMIM:159050|UMLS:C0699741|ICD10:G71.0|GARD:0005900|DOID:9883|OMIM:300376|SCTID:387732009|MedDRA:10059117|MESH:C570377|Orphanet:98895|NCIT:C84587 https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy owl:Class ECTO:9002131 biolink:NamedThing exposure to flame retardant An exposure to flame retardant. tmpaxzxjjyw_mondo_relaxed.owl exposure to flame retardant owl:Class HP:0003496 biolink:NamedThing Increased circulating IgM level An abnormally increased level of immunoglobulin M in blood. tmpaxzxjjyw_mondo_relaxed.owl Increased IgM levels|Increased levels of IgM UMLS:C1839972 HP:0002962 human_phenotype owl:Class HP:0010702 biolink:NamedThing Increased circulating antibody level An increased level of gamma globulin (immunoglobulin) in the blood. tmpaxzxjjyw_mondo_relaxed.owl Hyperglobulinemia|Increased antibody level in blood|Elevated immunoglobulin levels|Increased gamma globulin|Increased immunoglobulin level|Hypergammaglobulinemia|Increased serum gamma globulin|Raised immunoglobulin levels|Hypergammaglobulinaemia UMLS:C0541985|UMLS:C1306857|UMLS:C2048011|MSH:D006942|UMLS:C0020455|UMLS:C0151669|SNOMEDCT_US:127388009|SNOMEDCT_US:129646001 In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. peter 2010-03-22T08:20:07Z HP:0004314|HP:0002852|HP:0004435 human_phenotype owl:Class MONDO:0010350 biolink:NamedThing premature ovarian failure 2A Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ovarian failure caused by mutation in DIAPH2|premature ovarian failure 2A|POF2A|DIAPH2 primary ovarian failure|premature ovarian failure type 2A OMIM:300511|MESH:C564498|UMLS:C1845293 owl:Class MONDO:0018794 biolink:NamedThing cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder tmpaxzxjjyw_mondo_relaxed.owl platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency|GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS|PLA2G4A-related platelet dysfunction|cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder|Phospholipase A2, Group Iva, Deficiency of|GURDP Orphanet:477787|UMLS:CN776897|OMIM:618372 owl:Class UBERON:0001753 biolink:NamedThing cementum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024566 biolink:NamedThing febrile seizures, familial, 11 tmpaxzxjjyw_mondo_relaxed.owl febrile seizures, familial, 11|convulsions, familial febrile, 11|FEB11 OMIM:614418|Orphanet:165805|UMLS:C3280734|DOID:0111308 owl:Class CHEBI:61313 biolink:NamedThing C21-steroid A steroid that has a structure based on a 21-carbon (pregnane) skeleton. Note that individual examples may have ring substituents at other positions and/or contain double bonds, aromatic A-rings, expanded/contracted rings etc., so the formula and mass may vary from that given for the generic structure. tmpaxzxjjyw_mondo_relaxed.owl a C21-steroid owl:Class HP:0010541 biolink:NamedThing Cutis gyrata of scalp The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. tmpaxzxjjyw_mondo_relaxed.owl Scalp furrows|Scalp folds|Cutis verticis gyrata|Thickening of the scalp|Furrows in thickened skin on top of scalp|Thickened folds on top of scalp UMLS:C4280378|UMLS:C0263417|UMLS:C4072877|SNOMEDCT_US:51603000 peter 2009-09-23T10:15:33Z human_phenotype owl:Class HP:0011356 biolink:NamedThing Regional abnormality of skin An abnormality of the skin that is restricted to a particular body region. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023402 peter 2012-03-01T02:39:14Z human_phenotype owl:Class MONDO:0010126 biolink:NamedThing thymic aplasia with fetal death tmpaxzxjjyw_mondo_relaxed.owl thymic aplasia with fetal death UMLS:C1848815|MESH:C564768|OMIM:274210 owl:Class MONDO:0019234 biolink:NamedThing peroxisome biogenesis disorder Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). tmpaxzxjjyw_mondo_relaxed.owl Zellweger syndrome spectrum|peroxisome biogenesis disorder spectrum|peroxisome biogenesis disorder|Zellweger spectrum disorders|cerebrohepatorenal syndrome|peroxisomal biogenesis disorders, Zellweger syndrome spectrum|ZSD|PBD, ZSS|Zellweger spectrum disorder|PBD-Zellweger spectrum disorder|peroxisome biogenesis disorder-Zellweger syndrome spectrum|PBD-ZSD|Zellweger spectrum|PBD-ZSS|peroxisomal biogenesis disorders|peroxisome biogenesis disorders, Zellweger syndrome spectrum|disorders of peroxisome biogenesis GARD:0011890|SCTID:742876007|MESH:C536664|GARD:0009473|NCIT:C146639|DOID:0080377|Orphanet:79189|MESH:C531857|OMIMPS:214100 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0010057 biolink:NamedThing spinal muscular atrophy, Ryukyuan type tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy, Ryukyuan type|spinal muscular atrophy Ryukyuan type|Ryukyuan muscular atrophy GARD:0009646|UMLS:C1849102|MESH:C536881|OMIM:271200 https://rarediseases.info.nih.gov/diseases/9646/spinal-muscular-atrophy-ryukyuan-type owl:Class MONDO:0019857 biolink:NamedThing congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies Congenital hypothyroidism due to transplacental passage of maternal thyroid-stimulating hormone (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4273914|SCTID:717333002|ICD10:P72.2|Orphanet:95715 owl:Class MONDO:0016555 biolink:NamedThing transient congenital hypothyroidism due to maternal factor tmpaxzxjjyw_mondo_relaxed.owl Orphanet:238696|ICD10:P72.2 owl:Class MONDO:0006251 biolink:NamedThing inclusion body fibromatosis A rare benign neoplasm arising from the soft tissues of the digits, in young children. It is characterized by the presence of fibroblastic spindle cells, and intracytoplasmic eosinophilic spherical inclusions. tmpaxzxjjyw_mondo_relaxed.owl infantile digital fibroma/fibromatosis|infantile digital fibromatosis|Reye's tumor|digital fibrous tumor of Reye|inclusion body fibromatosis|Reye tumor|inclusion body fibromatosis (disease) inclusion body fibromatosis (disease) 2022-03-01 HP:0025197|EFO:1000301|NCIT:C3456 Reason: duplicate. This will be merged with MONDO:0016039 owl:Class MONDO:0012096 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2L Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, axonal, type 2L|Charcot-Marie-Tooth disease type 2L|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L|CMT2L|HSPB8 Charcot-Marie-Tooth disease type 2|autosomal dominant axonal Charcot-Marie-Tooth disease type 2L|Charcot-Marie-Tooth disease, axonal, type 2L|autosomal dominant Charcot-Marie-Tooth disease type 2L|Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB8|Charcot-Marie-Tooth neuropathy axonal type 2L Orphanet:99945|OMIM:608673|ICD10:G60.0|UMLS:C4304673|UMLS:C1837552|DOID:0110174|SCTID:719513008|GARD:0012432 owl:Class UBERON:8410044 biolink:NamedThing vein of appendix tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022500 biolink:NamedThing arthrogryposis multiplex congenita CNS calcification A syndrome characterized by congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death, as well as extensive deposits of calcium compounds in the nervous system and of skeletal muscle. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000785 https://rarediseases.info.nih.gov/diseases/785/arthrogryposis-multiplex-congenita-cns-calcification owl:Class UBERON:0003832 biolink:NamedThing esophagus muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:84124 biolink:NamedThing D-tyrosine derivative A non-proteinogenic amino acid derivative resulting from reaction of D-tyrosine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-tyrosine by a heteroatom. tmpaxzxjjyw_mondo_relaxed.owl D-tyrosine derivatives owl:Class MONDO:0013651 biolink:NamedThing intellectual disability, autosomal recessive 18 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic mental retardation-18|autosomal recessive non-syndromic intellectual disability caused by mutation in MED23|intellectual disability, autosomal recessive 18|MED23|autosomal recessive nonsyndromic intellectual disability-18|mental retardation, autosomal recessive 18|intellectual disability, autosomal recessive type 18|MED23 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 18|MRT18 UMLS:C3280265|GARD:0012233|OMIM:614249 owl:Class HGNC:286 biolink:NamedThing ADRB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1718 biolink:NamedThing CDC14A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011783 biolink:NamedThing ALG12-CDG A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33). tmpaxzxjjyw_mondo_relaxed.owl ALG12-CDG (CDG-Ig)|CDG Ig|CDG 1G|carbohydrate deficient glycoprotein syndrome type Ig|congenital disorder of glycosylation, type Ig|CDG syndrome type Ig|mannosyltransferase 8 deficiency|CDGIg|ALG12-CDG|congenital disorder of glycosylation type Ig|ALG12-congenital disorder of glycosylation|CDG1G|congenital disorder of glycosylation type 1g|CDG-Ig ICD9:271.8|MESH:C535745|UMLS:C2931001|NCIT:C126873|SCTID:711155008|GARD:0009833|Orphanet:79324|OMIM:607143|ICD10:E77.8|DOID:0080559 owl:Class MONDO:0015837 biolink:NamedThing Unicervical bicornuate uterus tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q51.3|Orphanet:180114 owl:Class MONDO:0015842 biolink:NamedThing bicornuate uterus tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q51.3|MedDRA:10004550|SCTID:31401003|Orphanet:180134 owl:Class CHEBI:33636 biolink:NamedThing bicyclic compound A molecule that features two fused rings. tmpaxzxjjyw_mondo_relaxed.owl bicyclic compounds owl:Class MONDO:0012825 biolink:NamedThing extraskeletal myxoid chondrosarcoma A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs. tmpaxzxjjyw_mondo_relaxed.owl extraosseous chondrosarcoma|extraskeletal chondrosarcoma|myxoid extraosseous chondrosarcoma|myxoid extraskeletal chondrosarcoma|chondrosarcoma, extraskeletal myxoid|EMC ICD9:171.9|OMIM:612237|UMLS:C1275278|DOID:6496|ONCOTREE:EMCHS|MESH:C563195|SCTID:404079008|Orphanet:209916|ICD10:C49.9|NCIT:C27502 owl:Class NCBITaxon:11018 biolink:NamedThing Togaviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732544 biolink:NamedThing Martellivirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0004377 biolink:NamedThing Hematological neoplasm Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). tmpaxzxjjyw_mondo_relaxed.owl Blood tumor|Haematological neoplasm|Blood tumour UMLS:C0376545|MSH:D019337|SNOMEDCT_US:269475001|SNOMEDCT_US:129154003 peter 2008-03-18T07:44:00Z human_phenotype owl:Class MONDO:0010887 biolink:NamedThing isolated anterior cervical hypertrichosis Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood. tmpaxzxjjyw_mondo_relaxed.owl hypertrichosis, anterior cervical|Tsukahara Kajii syndrome|hairy throat|hairy throat syndrome|Tsukahara-Kajii syndrome|anterior cervical hypertrichosis Orphanet:3387|OMIM:600457|MESH:C538390|UMLS:C1838123|SCTID:717963001|GARD:0008438|ICD10:L68.2 https://rarediseases.info.nih.gov/diseases/8438/isolated-anterior-cervical-hypertrichosis owl:Class MONDO:0010622 biolink:NamedThing recessive X-linked ichthyosis A genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. tmpaxzxjjyw_mondo_relaxed.owl X-linked recessive ichthyosis|placental steroid sulfatase deficiency|XLI|steroid sulfatase deficiency|RXLI|STS deficiency|X-linked ichthyosis with steryl-sulphatase deficiency|recessive X-linked ichthyosis|X-linked ichthyosis|X linked ichthyosis|ichthyosis, X-linked|ichthyosis (disease), X-linked|steroid sulfatase deficiency disease|X-linked placental steryl-sulphatase deficiency|ichthyosis, X-linked, complicated|SSDD SCTID:3944006|ICD10:Q80.1|UMLS:C0079588|Orphanet:281090|OMIM:300001|DOID:1700|NCIT:C84779|GARD:0007904|Orphanet:461|OMIM:308100|MedDRA:10048063 There are both syndromic and non-syndromic forms of this disease (PMID:20643494). https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0003627 biolink:NamedThing rheumatic pulmonary valve disease A rheumatologic disorder that involves the pulmonary valve. tmpaxzxjjyw_mondo_relaxed.owl rheumatologic disorder of pulmonary valve|pulmonary valve rheumatologic disorder|rheumatic disease of pulmonary valve|rheumatic pulmonary incompetence ICD9:397.1|UMLS:C0155579|ICD10:I09.89|SCTID:18687009|DOID:5748 owl:Class MONDO:0008063 biolink:NamedThing nasal alar collapse, bilateral tmpaxzxjjyw_mondo_relaxed.owl nasal alar collapse, bilateral MESH:C563533|OMIM:161470|UMLS:C1834371 owl:Class GO:0055072 biolink:NamedThing iron ion homeostasis Any process involved in the maintenance of an internal steady state of iron ions within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl iron homeostasis owl:Class GO:0010259 biolink:NamedThing multicellular organism aging An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005865 biolink:NamedThing mushroom workers' lung An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. tmpaxzxjjyw_mondo_relaxed.owl pholiota worker's lung|mushroom workers lung|bunashimeji worker's lung|shimeji worker's lung|pleurotus worker's lung|shiitaki worker's lung SCTID:52333004|EFO:0007385|ICD9:495.5|UMLS:C0155889|DOID:2708|ICD10:J67.5 owl:Class MONDO:0003931 biolink:NamedThing childhood optic tract astrocytoma An astrocytoma that arises from the visual pathway and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood visual pathway astrocytoma|optic tract astrocytoma of childhood|pediatric visual pathway astrocytoma|pediatric optic tract astrocytoma|childhood optic tract astrocytoma DOID:6575|UMLS:C1333014|NCIT:C7534 owl:Class MONDO:0012497 biolink:NamedThing congenital stationary night blindness autosomal dominant 3 A congenital stationary night blindness characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the GNAT1 gene on chromosome 3p21. tmpaxzxjjyw_mondo_relaxed.owl night blindness, congenital stationary, Nougaret type|CSNBAD3|Nougaret type congenital stationary night blindness|night blindness, congenital stationary, autosomal dominant type 3|night blindness, congenital stationary, autosomal dominant 3|congenital stationary night blindness autosomal dominant type 3 UMLS:C1864870|MESH:C566475|OMIM:610444|DOID:0110715 owl:Class MONDO:0013409 biolink:NamedThing age related macular degeneration 5 Any age-related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene. tmpaxzxjjyw_mondo_relaxed.owl ARMD5|age-related macular degeneration caused by mutation in ERCC6|age related macular degeneration type 5|macular degeneration, age-related, 5|macular Degeneration, age-related, type 5|ERCC6 age-related macular degeneration UMLS:C3151063|DOID:0110028|OMIM:613761 owl:Class MONDO:0015141 biolink:NamedThing disorder of medulla oblongata A disease that involves the medulla oblongata. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of medulla oblongata|disease of medulla oblongata|medulla oblongata disease|medulla oblongata disease or disorder|medullar disease|disorder of medulla oblongata UMLS:CN197487|Orphanet:102000 owl:Class MONDO:0007773 biolink:NamedThing hyperproglucagonemia tmpaxzxjjyw_mondo_relaxed.owl hyperproglucagonemia|glucagon, large molecular weight species of OMIM:145270|UMLS:C1840388|MESH:C564159 owl:Class MONDO:0015255 biolink:NamedThing blepharophimosis-radioulnar synostosis syndrome tmpaxzxjjyw_mondo_relaxed.owl Jorgenson Lenz syndrome|blepharophimosis radioulnar synostosis|ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature/dwarfism|mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis|Jorgenson-Lenz syndrome Orphanet:1256|UMLS:C2931162|GARD:0003057|ICD10:Q87.2|MESH:C536292 owl:Class MONDO:0011001 biolink:NamedThing Brugada syndrome 1 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN5A gene. tmpaxzxjjyw_mondo_relaxed.owl Cardiac conduction defect, nonspecific|SCN5A Brugada syndrome|Brugada syndrome caused by mutation in SCN5A|Brugada syndrome type 1|Brugada syndrome 1|BRGDA1|sudden unexplained nocturnal death syndrome|right bundle branch block, St segment elevation, and sudden death syndrome Orphanet:130|UMLS:C1142166|DOID:0110218|UMLS:CN029323|OMIM:601144|ICD10:I49.8 owl:Class MONDO:0012747 biolink:NamedThing glycogen storage disease due to aldolase A deficiency Glycogen storage disease due to aldolase A deficiency is an extremely rare glycogen storage disease characterized by hemolytic anemia with or without myopathy or intellectual deficit. Myopathy can be severe enough to result in fatal rhabdomyolysis in some patients. A family with episodic rhabdomyolysis (triggerd by fever) without hemolytic anemia has recently been reported. tmpaxzxjjyw_mondo_relaxed.owl glycogen storage disease due to aldolase A deficiency|Aldoa deficiency|glycogenosis type 12|aldolase deficiency red cell|aldolase deficiency, Red cell|GSD due to aldolase A deficiency|glycogen storage disease XII|aldolase a deficiency|GSD 12|GSD type 12|glycogen storage disease type 12|glycogen storage disease 12|glycogenosis due to aldolase A deficiency|glycogen storage disease type XII|GSD type XII|glycogenosis type XII|Red cell aldolase deficiency|GSD12 ICD9:282.3|Orphanet:57|UMLS:C0272066|MESH:C562718|GARD:0000600|ICD10:E74.0|OMIM:611881|SCTID:111578003 owl:Class OGMS:0000087 biolink:NamedThing extended organism An object aggregate consisting of an organism and all material entities located within the organism, overlapping the organism, or occupying sites formed in part by the organism. tmpaxzxjjyw_mondo_relaxed.owl From OGMS: http://purl.obolibrary.org/obo/OGMS_0000087 creation date: 2010-01-25T04:51:11Z http://code.google.com/p/ogms/issues/detail?id=3 Albert Goldfain owl:Class MONDO:0013150 biolink:NamedThing parkinsonism-dystonia, infantile Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. tmpaxzxjjyw_mondo_relaxed.owl PARKINSONISM-dystonia, infantile|infantile Parkinsonism-dystonia|dopamine transporter deficiency syndrome|IPD|PKDYS|parkinsonism-dystonia, infantile|Parkinsonism-dystonia infantile UMLS:C2751067|Orphanet:238455|GARD:0010484|NCIT:C129866|SCTID:722763000|MESH:C567730|OMIMPS:613135 https://rarediseases.info.nih.gov/diseases/10484/infantile-parkinsonism-dystonia owl:Class MONDO:0018329 biolink:NamedThing persistent combined dystonia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:391711|ICD10:G24.1 owl:Class MONDO:0022096 biolink:NamedThing pyogenic granuloma A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma. tmpaxzxjjyw_mondo_relaxed.owl Granuloma, Pyogenic|PG - Pyogenic granuloma|Granulomata Pyogenicum|Pyogenic Granuloma|Capillary hemangioma of granulation tissue type|Capillary Hemangioma, Lobular|Granuloma telangiectaticum|Granulation Tissue-Type Hemangioma|Pyogenic granuloma|angiogranulomas|Lobular capillary hemangioma|Lobular Capillary Hemangioma|angiogranuloma|Granuloma Pyogenicum|Lobular Hemangioma|hemangiomatous Granulation Tissue|Granuloma Telangiecticum|hemangioma, Lobular Capillary|Granuloma pyogenicum MESH:D017789|UMLS:C0085653|GARD:0010963|SCTID:200722003 owl:Class MONDO:0006254 biolink:NamedThing intestinal type adenocarcinoma An adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas. tmpaxzxjjyw_mondo_relaxed.owl intestinal type carcinoma|intestinal-type adenocarcinoma UMLS:C0334279|ICDO:8144/3|EFO:1000304|NCIT:C4126 owl:Class MONDO:0000944 biolink:NamedThing cerebral artery occlusion tmpaxzxjjyw_mondo_relaxed.owl ICD9:434|ICD9:434.90|ICD9:434.9|DOID:10127|SCTID:20059004|ICD9:434.91 owl:Class HP:0007700 biolink:NamedThing Ocular anterior segment dysgenesis Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. tmpaxzxjjyw_mondo_relaxed.owl Anterior segment dysgenesis|Anterior segment mesencyhmal dysgenesis|Anterior segment developmental abnormality|Anterior chamber mesodermal anomalies|Anterior chamber cleavage disorder|Anterior segment ocular dysgenesis|Anterior chamber cleavage defect|Anterior chamber malformation SNOMEDCT_US:65075004|UMLS:C0266525 In anterior segment mesenchymal ocular dysgenesis (ASMOD), multiple tissues are affected, including the iris, cornea, and lens as well as the Schlemm's canal and trabecular meshwork drainage structures located at the anterior segment angle where the iris and cornea meet. These abnormalities may result from a primary defect in the migration and/or differentiation of the mesenchymal cells that contribute to development of the cornea, iris, and drainage structures. HP:0008040|HP:0007696|HP:0007699 human_phenotype owl:Class NCBITaxon:5691 biolink:NamedThing Trypanosoma brucei tmpaxzxjjyw_mondo_relaxed.owl Trypanosoma brucei subgroup|Trypanosoma (Trypanozoon) brucei GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:39700 biolink:NamedThing Trypanozoon tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0025085 biolink:NamedThing hepatitis, viral, animal Inflammation of the liver in animals due to viral infection. tmpaxzxjjyw_mondo_relaxed.owl MESH:D006524 owl:Class GO:0040016 biolink:NamedThing embryonic cleavage The first few specialized divisions of an activated animal egg. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013055 biolink:NamedThing Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features tmpaxzxjjyw_mondo_relaxed.owl Stargardt macular degeneration, absent or hypoplastic corpus callosum, mental retardation, and dysmorphic features|Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features|Stargardt macular degeneration absent or hypoplastic corpus callosum intellectual disability and dysmorphic features|Stargardt macular degeneration, absent or hypoplastic corpus callosum, intellectual disability, and dysmorphic features OMIM:612948|UMLS:C2751864|MESH:C548086|GARD:0010683 https://rarediseases.info.nih.gov/diseases/10683/stargardt-macular-degeneration-absent-or-hypoplastic-corpus-callosum-mental-retardation-and-dysmorphic-features owl:Class PATO:0000992 biolink:NamedThing viscosity A physical quality of a liquid inhering in a bearer by virtue of the bearer's disposition to internal resistance to flow. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001548 biolink:NamedThing quality of a liquid A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. tmpaxzxjjyw_mondo_relaxed.owl liquidity owl:Class UBERON:0004405 biolink:NamedThing distal epiphysis of tibia tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044675 biolink:NamedThing LRP5-related primary osteoporosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:498481 owl:Class CL:0011108 biolink:NamedThing colon epithelial cell Epithelial cell that is part of the colon epithelium. tmpaxzxjjyw_mondo_relaxed.owl colonic epithelial cell owl:Class MONDO:0008509 biolink:NamedThing distal symphalangism Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet. tmpaxzxjjyw_mondo_relaxed.owl Sym2|symphalangism, distal|distal symphalangism (disease)|distal symphalangism distal symphalangism (disease) ICD10:Q70.9|UMLS:C1861401|MESH:C566099|Orphanet:3248|OMIM:185700|HP:0100263 owl:Class MONDO:0000151 biolink:NamedThing symphalangism tmpaxzxjjyw_mondo_relaxed.owl SCTID:253975004 owl:Class MONDO:0003978 biolink:NamedThing colon small cell neuroendocrine carcinoma An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells. tmpaxzxjjyw_mondo_relaxed.owl colon Oat cell carcinoma|Oat cell carcinoma of the colon|Oat cell carcinoma of colon|colonic small cell carcinoma|colonic Oat cell carcinoma|small cell carcinoma of the colon|Oat cell colon carcinoma|colon small cell neuroendocrine cancer|small cell colon carcinoma|colon small cell neuroendocrine carcinoma|small cell carcinoma of colon|colon small cell carcinoma NCIT:C6761|DOID:6727|UMLS:C1333099 owl:Class MONDO:0007626 biolink:NamedThing familial congenital palsy of trochlear nerve An instance of fourth cranial nerve palsy that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl superior oblique oculomotor palsy, familial congenital|strabismus from Superior oblique palsy|hereditary fourth cranial nerve palsy|fourth cranial nerve palsy, familial congenital|trochlear nerve palsy, familial congenital UMLS:C1850996|ICD10:H49.1|GARD:0010355|Orphanet:91498|MESH:C565007|OMIM:136480 https://rarediseases.info.nih.gov/diseases/10355/familial-congenital-palsy-of-trochlear-nerve owl:Class MONDO:0005978 biolink:NamedThing theileriasis Infection of cattle, sheep, or goats with protozoa of the genus theileria. This infection results in an acute or chronic febrile condition. tmpaxzxjjyw_mondo_relaxed.owl infection by Theileria|theileriosis SCTID:68771000|DOID:3733|UMLS:C0039753|MESH:D013801|ICD9:136.8|EFO:0007506 owl:Class UBERON:0014463 biolink:NamedThing cardiac ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001808 biolink:NamedThing parasympathetic ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0034147 biolink:NamedThing neonatal epileptic encephalopathy due to glutaminase deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:557064 owl:Class MONDO:0012021 biolink:NamedThing myopia 17, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl MYP17|myopia 4|myopia 4, formerly|myopia 17, autosomal dominant OMIM:608367|UMLS:C3888211 owl:Class MONDO:0006630 biolink:NamedThing osteoarthritis, spine A degenerative joint disease involving the spine. It is characterized by progressive deterioration of the spinal articular cartilage (cartilage, articular), usually with hardening of the subchondral bone and outgrowth of bone spurs (osteophyte). tmpaxzxjjyw_mondo_relaxed.owl EFO:1000787|SCTID:8847002|MESH:D055013 owl:Class MONDO:0012515 biolink:NamedThing glaucoma 1, open angle, M tmpaxzxjjyw_mondo_relaxed.owl glaucoma 1, open angle, M|JOAG1M|GLC1M OMIM:610535|MESH:C566436|UMLS:C1864653|Orphanet:98977 owl:Class MONDO:0016917 biolink:NamedThing partial deletion of the long arm of chromosome 19 tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome 19q|partial monosomy of the long arm of chromosome 19|partial monosomy of chromosome 19q|partial deletion of the long arm of chromosome type 19 Orphanet:262155|ICD10:Q93.5 owl:Class GO:0006323 biolink:NamedThing DNA packaging Any process in which DNA and associated proteins are formed into a compact, orderly structure. tmpaxzxjjyw_mondo_relaxed.owl DNA organization|DNA organisation|DNA condensation owl:Class CHEBI:33860 biolink:NamedThing aromatic amine An amino compound in which the amino group is linked directly to an aromatic system. tmpaxzxjjyw_mondo_relaxed.owl arylamine|arylamines|aryl amines|aromatic amines|aryl amine owl:Class MONDO:0007654 biolink:NamedThing genu valgum, st. Helena familial tmpaxzxjjyw_mondo_relaxed.owl St. Helena familial genu valgum|hereditary pubertal genu valgum|genu valgum, st Helena familial|severe 'knock-knees' and variable lesser malalignment at the elbows and wrists|genu valgum, st. Helena familial|genu valgum, hereditary pubertal MESH:C537685|OMIM:137370|GARD:0008429|UMLS:C1842052 https://rarediseases.info.nih.gov/diseases/8429/genu-valgum-st-helena-familial owl:Class NCBITaxon:2731342 biolink:NamedThing Monodnaviria tmpaxzxjjyw_mondo_relaxed.owl single-stranded DNA viruses GC_ID:1 ncbi_taxonomy owl:Class GO:0002705 biolink:NamedThing positive regulation of leukocyte mediated immunity Any process that activates or increases the frequency, rate, or extent of leukocyte mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl activation of leukocyte mediated immunity|up-regulation of leukocyte mediated immunity|upregulation of leukocyte mediated immunity|positive regulation of immune cell mediated immunity|positive regulation of leucocyte mediated immunity|up regulation of leukocyte mediated immunity|stimulation of leukocyte mediated immunity owl:Class GO:0050679 biolink:NamedThing positive regulation of epithelial cell proliferation Any process that activates or increases the rate or extent of epithelial cell proliferation. tmpaxzxjjyw_mondo_relaxed.owl up regulation of epithelial cell proliferation|up-regulation of epithelial cell proliferation|upregulation of epithelial cell proliferation|stimulation of epithelial cell proliferation|activation of epithelial cell proliferation owl:Class CHEBI:76042 biolink:NamedThing aromatic amino-acid zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any aromatic amino-acid. tmpaxzxjjyw_mondo_relaxed.owl aromatic amino-acid zwitterions|an aromatic amino-acid owl:Class UBERON:0018674 biolink:NamedThing heart vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010527 biolink:NamedThing Astereognosia Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. tmpaxzxjjyw_mondo_relaxed.owl Somatosensory agnosia|Astereognosis SNOMEDCT_US:25094008|UMLS:C0234505|MSH:D000377 peter 2009-09-20T11:41:58Z human_phenotype owl:Class HP:0011730 biolink:NamedThing Abnormal central sensory function An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of central sensory function UMLS:C4023215 peter 2012-04-19T07:44:18Z human_phenotype owl:Class HGNC:714 biolink:NamedThing ARSB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013809 biolink:NamedThing cerebellar ataxia, neuropathy, and vestibular areflexia syndrome tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia, neuropathy, and vestibular areflexia syndrome|CANVAS OMIM:614575|UMLS:C3281223 owl:Class MONDO:0001232 biolink:NamedThing orbital osteomyelitis tmpaxzxjjyw_mondo_relaxed.owl orbital osteomyelitis UMLS:C0155258|SCTID:65875003|ICD10:H05.02|DOID:11232|ICD9:376.03 owl:Class NCBITaxon:5152 biolink:NamedThing Ophiostomataceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:117573 ncbi_taxonomy owl:Class NCBITaxon:5151 biolink:NamedThing Ophiostomatales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016219 biolink:NamedThing dysmorphism-pectus carinatum-joint laxity syndrome Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown. tmpaxzxjjyw_mondo_relaxed.owl Guízar Vázquez-Sánchez-Manzano syndrome|Guizar Vasquez Sanchez Manzano syndrome|dysmorphism-pectus carinatum-joint laxity syndrome GARD:0000352|ICD10:Q87.8|Orphanet:2104|UMLS:CN237430 https://rarediseases.info.nih.gov/diseases/352/guizar-vasquez-sanchez-manzano-syndrome owl:Class MONDO:0021227 biolink:NamedThing adrenal gland neoplasm A neoplasm (disease) that involves the adrenal gland. tmpaxzxjjyw_mondo_relaxed.owl ADRENALGLAND|adrenal tumor|adrenal gland tumor|neoplasm of adrenal gland|neoplasm of the adrenal gland|adrenal gland neoplasm (disease)|adrenal neoplasms|adrenal neoplasm|tumor of the adrenal gland|tumor of adrenal gland EFO:0003850|ONCOTREE:ADRENALGLAND|NCIT:C2859 owl:Class MONDO:0014904 biolink:NamedThing congenital disorder of glycosylation, type IAA tmpaxzxjjyw_mondo_relaxed.owl congenital disorder of glycosylation, type IAA|CDG1AA|congenital disorder of glycosylation, type IAA; CDG1AA DOID:0080553|OMIM:617082|UMLS:C4310727 owl:Class UBERON:0010893 biolink:NamedThing median external naris tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11791 biolink:NamedThing TCHH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032891 biolink:NamedThing aneurysm, intracranial berry, 12 tmpaxzxjjyw_mondo_relaxed.owl ANEURYSM, INTRACRANIAL BERRY, 12|ANIB12 OMIM:618734 owl:Class MONDO:0021656 biolink:NamedThing nongerminomatous germ cell tumor A term that refers to teratoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, or mixed forms of these tumors. tmpaxzxjjyw_mondo_relaxed.owl non-germinomatous germ cell tumor|non-dysgerminomatous germ cell tumor|non-seminomatous germ cell tumor|Nongerminomatous germ cell tumor|Nongerminomatous germ cell tumor Including central nervous system|NSGCT GARD:0010165|ONCOTREE:NSGCT|NCIT:C121619 owl:Class GO:0051461 biolink:NamedThing positive regulation of corticotropin secretion Any process that activates or increases the frequency, rate or extent of the regulated release of corticotropin hormone from a cell. tmpaxzxjjyw_mondo_relaxed.owl up regulation of adrenocorticotropin secretion|upregulation of adrenocorticotropin secretion|positive regulation of adrenotropic hormone secretion|up-regulation of adrenocorticotropin secretion|positive regulation of ACTH secretion|positive regulation of adrenocorticotropin secretion|stimulation of adrenocorticotropin secretion|positive regulation of adrenocorticotropic hormone secretion|activation of adrenocorticotropin secretion|positive regulation of adrenotropin secretion|positive regulation of corticotropic hormone secretion owl:Class UBERON:0007181 biolink:NamedThing serosa of infundibulum of uterine tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:85007 biolink:NamedThing Corynebacteriales tmpaxzxjjyw_mondo_relaxed.owl Corynebacterineae|Mycobacteriales GC_ID:11|PMID:19244447|PMID:31157615|PMID:1736962|PMID:30186281|PMID:11837321 NCBITaxon:1761 ncbi_taxonomy owl:Class MONDO:0016824 biolink:NamedThing infantile myofibromatosis A benign, multifocal, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. tmpaxzxjjyw_mondo_relaxed.owl IMS|infantile myofibromatosis|multicentric myofibromatosis|infantile hemangiopericytoma|myofibromatosis MESH:D018224|Orphanet:2591|ONCOTREE:IMS|OMIM:615293|SCTID:254146000|OMIMPS:228550|DOID:0080109|NCIT:C3742|GARD:0002998|ICDO:8824/1|ICD10:D48.1|UMLS:C0206648|OMIM:228550 https://rarediseases.info.nih.gov/diseases/2998/infantile-myofibromatosis owl:Class GO:0099547 biolink:NamedThing regulation of translation at synapse, modulating synaptic transmission Any process that modulates synaptic transmission by regulating translation occurring at the synapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008921 biolink:NamedThing carnosinemia Carnosinemia is a very rare inherited disorder that presents with serum carnosinase deficiency. tmpaxzxjjyw_mondo_relaxed.owl carnosinemia|homocarnosinosis|Carnosinase deficiency Orphanet:1361|NCIT:C125661|ICD10:E70.8|UMLS:C3495555|UMLS:C0268632|OMIM:212200|UMLS:C3495554|GARD:0006001|SCTID:410052008 owl:Class MONDO:0015783 biolink:NamedThing Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200365|Orphanet:177901|ICD10:Q87.1 owl:Class MONDO:0014142 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2T Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related|muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related|LGMD-GMPPB related|muscular dystrophy limb-girdle type 2T|GMPPB autosomal recessive limb-girdle muscular dystrophy|LGMD2T|muscular dystrophy-dystroglycanopathy (limb-girdle) type C14|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14|limb-girdle muscular dystrophy type 2T|autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB|muscular dystrophy, limb-girdle, type 2T|MDDGC14 ICD10:G71.0|DOID:0110294|UMLS:C3714932|Orphanet:363623|OMIM:615352|ICD10:G71.2|GARD:0012544 owl:Class GO:0006584 biolink:NamedThing catecholamine metabolic process The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. tmpaxzxjjyw_mondo_relaxed.owl catecholamine metabolism owl:Class MONDO:0018253 biolink:NamedThing intellectual disability-facial dysmorphism-hand anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204829|Orphanet:370010|ICD10:Q87.0 owl:Class CL:1000410 biolink:NamedThing myocyte of atrioventricular node A muscle cell that is part of the atrioventricular node. tmpaxzxjjyw_mondo_relaxed.owl atrioventricular node cell|atrioventricular node myocyte|AV nodal myocyte|AV node cell|AV node cardiac muscle cell FMA:67106 cell owl:Class CL:0002072 biolink:NamedThing nodal myocyte A specialized cardiac myocyte in the sinoatrial and atrioventricular nodes. The cell is slender and fusiform confined to the nodal center, circumferentially arranged around the nodal artery. tmpaxzxjjyw_mondo_relaxed.owl P cell|cardiac pacemaker cell|myocytus nodalis|pacemaker cell FMA:67101|BTO:0004190 tmeehan 2010-06-29T11:41:37Z cell owl:Class UBERON:0034926 biolink:NamedThing anatomical row tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018599 biolink:NamedThing congenital oculomotor nerve palsy tmpaxzxjjyw_mondo_relaxed.owl congenital CNIII lesion|congenital third cranial nerve palsy Orphanet:440221|ICD10:Q07.8 owl:Class MONDO:0015083 biolink:NamedThing nuclear oculomotor paralysis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:100932 Editor note: see notes for supranuclear owl:Class MONDO:0012779 biolink:NamedThing celiac disease, susceptibility to, 10 tmpaxzxjjyw_mondo_relaxed.owl celiac disease, susceptibility to, 10|CELIAC10|gluten-sensitive enteropathy, susceptibility to, 10 OMIM:612008 owl:Class MONDO:0020493 biolink:NamedThing Haddad syndrome Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease. tmpaxzxjjyw_mondo_relaxed.owl congenital central alveolar hypoventilation-Hirschsprung disease syndrome|ondine-Hirschsprung disease|Haddad syndrome|ondine-Hirschsprung syndrome OMIM:209880|SCTID:719972004|Orphanet:99803|ICD10:G47.3 owl:Class MONDO:0010267 biolink:NamedThing episodic muscle weakness, X-linked tmpaxzxjjyw_mondo_relaxed.owl episodic muscle weakness, X-linked|EMWX UMLS:C1846173|MESH:C564565|OMIM:300211 owl:Class MONDO:0008210 biolink:NamedThing patterned macular dystrophy 1 Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. tmpaxzxjjyw_mondo_relaxed.owl macular dystrophy, butterfly-Shaped pigmentary|patterned dystrophy of retinal pigment epithelium|butterfly dystrophy of retinal pigment epithelium|butterfly-shaped pigmentary maculary dystrophy 1|MDPT1|patterned macular dystrophy type 1|patterned macular dystrophy caused by mutation in PRPH2|macular dystrophy, patterned, 1|PRPH2 patterned macular dystrophy|butterfly-shaped pigment dystrophy of the fovea|macular dystrophy, butterfly-shaped pigmentary|macular dystrophy, patterned, type 1 UMLS:C1868569|Orphanet:99001|OMIM:169150|DOID:0060866 owl:Class MONDO:0022777 biolink:NamedThing cleft lip palate dysmorphism kumar type tmpaxzxjjyw_mondo_relaxed.owl GARD:0001375 https://rarediseases.info.nih.gov/diseases/1375/cleft-lip-palate-dysmorphism-kumar-type owl:Class CHEBI:33839 biolink:NamedThing macromolecule A macromolecule is a molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpaxzxjjyw_mondo_relaxed.owl polymer molecule|polymers|macromolecule|macromolecules|polymer owl:Class CHEBI:36357 biolink:NamedThing polyatomic entity Any molecular entity consisting of more than one atom. tmpaxzxjjyw_mondo_relaxed.owl polyatomic entities owl:Class MONDO:0006233 biolink:NamedThing gonadal teratoma A teratoma that arises from the testis or ovary. tmpaxzxjjyw_mondo_relaxed.owl gonadal teratoma|teratoma, gonads EFO:1000282|NCIT:C98291|UMLS:C3273942 owl:Class CL:1000418 biolink:NamedThing myoepithelial cell of lactiferous alveolus A myoepithelial cell that is part of the mammary gland alveolus. tmpaxzxjjyw_mondo_relaxed.owl basal cell of alveolus of lactiferous gland|myoepithelial cell of mammary alveolus FMA:67802 cell owl:Class HGNC:11817 biolink:NamedThing TIMM8A tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903487 biolink:NamedThing regulation of lactation Any process that modulates the frequency, rate or extent of lactation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000195 biolink:NamedThing negative regulation of female gonad development Any process that stops, prevents, or reduces the frequency, rate or extent of female gonad development. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of ovarian development|negative regulation of ovary development owl:Class MONDO:0008050 biolink:NamedThing MYH7-related skeletal myopathy Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. tmpaxzxjjyw_mondo_relaxed.owl myopathy, distal, early-onset, autosomal dominant|myopathy, distal, type 1|Gowers disease|MYH7-related skeletal myopathy|myosin storage myopathy|Laing early-onset distal myopathy|Laing distal myopathy|myopathy, late distal hereditary|MPD1|distal myopathy type 1|myopathy distal, type 1|myopathy, distal, 1 SCTID:764859001|UMLS:CN074249|DOID:0070197|Orphanet:59135|GARD:0010769|OMIM:160500|ICD10:G71.0 owl:Class MONDO:0007360 biolink:NamedThing branchiootic syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl bo syndrome 2|branchiootic syndrome 2|branchiootic syndrome type 2 Orphanet:52429|MESH:C565171|OMIM:120502|UMLS:C1852718 owl:Class MONDO:0018878 biolink:NamedThing branchiootic syndrome Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space). tmpaxzxjjyw_mondo_relaxed.owl branchiootic dysplasia|bor|bo syndrome UMLS:CN205225|Orphanet:52429|GARD:0010148|OMIM:602588|OMIM:120502|DOID:0060232|SCTID:764810000|ICD10:Q87.0|OMIM:608389 owl:Class CHEBI:43474 biolink:NamedThing hydrogenphosphate A phosphate ion that is the conjugate base of dihydrogenphosphate. tmpaxzxjjyw_mondo_relaxed.owl hydroxidotrioxidophosphate(2-)|HYDROGENPHOSPHATE ION|[PO3(OH)](2-)|hydrogentetraoxophosphate(V)|[P(OH)O3](2-)|hydrogenphosphate|hydrogentetraoxophosphate(2-)|phosphate|hydrogen phosphate|INORGANIC PHOSPHATE GROUP|hydrogen(tetraoxidophosphate)(2-)|HPO4(2-) owl:Class MONDO:0012340 biolink:NamedThing celiac disease, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl gluten-sensitive enteropathy, susceptibility to, 2|celiac disease, susceptibility to, 2|CELIAC2 OMIM:609754 owl:Class CHEBI:33702 biolink:NamedThing polyatomic cation A cation consisting of more than one atom. tmpaxzxjjyw_mondo_relaxed.owl polyatomic cations owl:Class CL:0000174 biolink:NamedThing steroid hormone secreting cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class GO:0045829 biolink:NamedThing negative regulation of isotype switching Any process that stops, prevents, or reduces the frequency, rate or extent of isotype switching. tmpaxzxjjyw_mondo_relaxed.owl down regulation of isotype switching|negative regulation of isotype switch recombination|inhibition of isotype switching|negative regulation of class switch recombination|down-regulation of isotype switching|downregulation of isotype switching|negative regulation of class switching owl:Class UBERON:0014400 biolink:NamedThing hepatic sinusoidal space tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009567 biolink:NamedThing Marinesco-Sjogren syndrome Marinesco-Sjogren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development. tmpaxzxjjyw_mondo_relaxed.owl Marinesco-Sjogren syndrome-myopathy|Marinesco-Sjogren-Garland syndrome|Marinesco-Sjögren syndrome|Marinesco-Sjogren syndrome|Marinesco-Sjogren syndrome-Hypergonadotrophic hypogonadism|Marinesco-Garland syndrome|oligophrenic cerebellolenticular degeneration|hereditary oligophrenic cerebello-lental degeneration|MSS|Garland-Moorhouse syndrome ICD9:742.4|DOID:0080195|ICD10:G11.1|GARD:0008341|UMLS:C0024814|Orphanet:559|OMIM:248800|SCTID:80734006 owl:Class MONDO:0700064 biolink:NamedThing aneuploidy A chromosomal abnormality in which there is an addition or loss of chromosomes within a set. tmpaxzxjjyw_mondo_relaxed.owl chromosome number anomaly NCIT:C2873 http://orcid.org/0000-0002-4142-7153 owl:Class CL:1000450 biolink:NamedThing epithelial cell of glomerular capsule An epithelial cell that is part of the glomerular capsule. tmpaxzxjjyw_mondo_relaxed.owl epithelial cell of Bowman's capsule|Bowmans capsule epithelial cell KUPO:0001034|FMA:70966 cell owl:Class CL:1000510 biolink:NamedThing kidney glomerular epithelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001023 cell owl:Class MONDO:0014417 biolink:NamedThing spinocerebellar ataxia type 38 Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia type 38|spinocerebellar ataxia 38|SCA38 DOID:0050985|UMLS:C4518337|EFO:0009056|UMLS:C4014812|Orphanet:423296|SCTID:734021001|GARD:0012369|ICD10:G11.8|OMIM:615957 owl:Class NCBITaxon:9605 biolink:NamedThing Homo tmpaxzxjjyw_mondo_relaxed.owl humans GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:207598 biolink:NamedThing Homininae tmpaxzxjjyw_mondo_relaxed.owl Homo/Pan/Gorilla group GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004531 biolink:NamedThing sclerosing adenosis of breast Breast adenosis characterized by the proliferation of acini, a lobulated architectural pattern, and stromal sclerosis. The luminal epithelial and myopepithelial cells are preserved. Microcalcifications and foci of apocrine metaplasia may be present. tmpaxzxjjyw_mondo_relaxed.owl sclerosing breast adenosis|breast sclerosing adenosis|sclerosing adenosis of the breast|sclerosing adenosis UMLS:C1335931|DOID:8310|SCTID:105261000119101|NCIT:C5205 owl:Class MONDO:0008068 biolink:NamedThing navicular bone, accessory tmpaxzxjjyw_mondo_relaxed.owl navicular bone, accessory 2022-04-01 MESH:C536002|GARD:0008543|OMIM:161600 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class UBERON:0007005 biolink:NamedThing cardiogenic splanchnic mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003397 biolink:NamedThing gingival hypertrophy Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells. tmpaxzxjjyw_mondo_relaxed.owl hypertrophy of gingivae MESH:D005886|SCTID:54711002|UMLS:C0017567|DOID:5338 owl:Class MONDO:0002507 biolink:NamedThing gingival overgrowth Excessive growth of the gingiva either by an increase in the size of the constituent cells (gingival hypertrophy) or by an increase in their number (gingival hyperplasia). (From Jablonski's Dictionary of Dentistry, 1992, p574) tmpaxzxjjyw_mondo_relaxed.owl gingival enlargement DOID:3086|ICD10:K06.1|SCTID:54711002|MESH:D019214|ICD9:523.8 owl:Class MONDO:0014953 biolink:NamedThing gnb5-related intellectual disability-cardiac arrhythmia syndrome tmpaxzxjjyw_mondo_relaxed.owl intellectual developmental disorder with cardiac arrhythmia; IDDCA|IDDCA|intellectual developmental disorder with cardiac arrhythmia UMLS:C4310682|OMIM:617173|Orphanet:542306 owl:Class MONDO:0014281 biolink:NamedThing cholangiocarcinoma, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl Chlc, susceptibility to|cholangiocarcinoma, susceptibility to OMIM:615619|Orphanet:70567 owl:Class ENVO:01000324 biolink:NamedThing planetary surface A planetary surface is a surface layer where the solid or liquid material of a planet comes into contact with an atmosphere or outer space. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009813 biolink:NamedThing chronic recurrent multifocal osteomyelitis Chronic non bacterial osteomyelitis (CNO), also known as chronic recurrent multifocal osteomyelitis (CRMO), is a chronic autoinflammatory syndrome that is characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. tmpaxzxjjyw_mondo_relaxed.owl non-bacterial osteomyelitis|chronic recurrent multifocal osteomyelitis (disease)|CMO|chronic multifocal osteomyelitis|chronic recurrent multifocal osteomyelitis|multifocal osteomyelitis, chronic|CNO/CRMO|CRMO|NBO|chronic nonbacterial osteomyelitis/chronic recurrent multifocal osteomyelitis|osteomyelitis, chronic multifocal chronic recurrent multifocal osteomyelitis (disease) GARD:0006108|NCIT:C119042|Orphanet:324964|MESH:C535456|ICD10:M86.3|SCTID:240151005|DOID:0060645|HP:0002754|OMIM:259680|UMLS:C0410422 owl:Class UBERON:0007010 biolink:NamedThing cleaving embryo tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:22868 biolink:NamedThing bile salt A sodium salt of the conjugate of any bile acid with either glycine or taurine. tmpaxzxjjyw_mondo_relaxed.owl bile salts|Bile acid owl:Class CHEBI:36078 biolink:NamedThing cholanoid tmpaxzxjjyw_mondo_relaxed.owl bile acids and derivatives|cholanoids owl:Class MONDO:0007019 biolink:NamedThing vulvovaginitis An inflammatory pathologic process that affects the vulva and the vagina. tmpaxzxjjyw_mondo_relaxed.owl Vulvo-vaginitis UMLS:C0042998|MedDRA:10047794|NCIT:C35131|EFO:1001240|MESH:D014848|DOID:2273|ICD10:N76.0|SCTID:53277000 owl:Class HGNC:24624 biolink:NamedThing SIL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006271 biolink:NamedThing orbital fissure tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33266 biolink:NamedThing diatomic nitrogen tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11530 biolink:NamedThing TACSTD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:84642 biolink:NamedThing Aeromonadaceae tmpaxzxjjyw_mondo_relaxed.owl Aeromonas group GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:135624 biolink:NamedThing Aeromonadales tmpaxzxjjyw_mondo_relaxed.owl Aeromonadaceae/Succinivibrionaceae group GC_ID:11|PMID:16280474 ncbi_taxonomy owl:Class MONDO:0024552 biolink:NamedThing linear skin defects with multiple congenital anomalies 1 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia with linear skin defects syndrome caused by mutation in HCCS|Midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia, syndromic 7|microphthalmia with linear skin defects|LSDMCA1|linear skin defects with multiple congenital anomalies 1|HCCS microphthalmia with linear skin defects syndrome Orphanet:2556|OMIM:309801 Editor note: this is in two OMIMPSs, see notes on parent owl:Class UBERON:0015054 biolink:NamedThing iliac endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016350 biolink:NamedThing hydrocephalus-blue sclerae-nephropathy syndrome Hydrocephalus-blue sclera-nephropathy syndrome is a rare, genetic, renal or urinary tract malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. tmpaxzxjjyw_mondo_relaxed.owl Daentl-Townsend-Siegel syndrome Orphanet:2186|ICD10:Q87.8 owl:Class MONDO:0016890 biolink:NamedThing partial deletion of the short arm of chromosome 8 Chromosome 8p deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 8 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl 8p deletion|partial deletion of chromosome 8p|chromosome 8p deletion|monosomy 8p|partial monosomy of the short arm of chromosome 8|partial deletion of the short arm of chromosome type 8|partial monosomy 8p|partial monosomy of chromosome 8p|deletion 8p|8p monosomy ICD10:Q93.5|Orphanet:261920|MESH:C537826|GARD:0003768 owl:Class MONDO:0016873 biolink:NamedThing partial deletion of chromosome 8 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 8|partial deletion of chromosome type 8 ICD10:Q93.5|Orphanet:261801 owl:Class MONDO:0030998 biolink:NamedThing hearing loss, autosomal dominant 80 tmpaxzxjjyw_mondo_relaxed.owl DFNA80|deafness, autosomal dominant 80 OMIM:619274 owl:Class MONDO:0006227 biolink:NamedThing gastric neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the stomach. The vast majority of cases arise from the corpus-fundus region. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. It may be associated with autoimmune chronic atrophic gastritis, multiple endocrine neoplasia type 1, or it may be sporadic. tmpaxzxjjyw_mondo_relaxed.owl gastric ECL cell NET|gastric enterochromaffin-like cell neuroendocrine tumor|grade 1 neuroendocrine neoplasm of stomach|gastric NET G1|gastric ECL-cell carcinoid tumor|gastric enterochromaffin-like cell carcinoid tumor|stomach neuroendocrine neoplasm G1|gastric ECL cell NET G1|gastric ECL cell, histamine-producing NET|stomach carcinoid tumor|stomach NET G1|gastric carcinoid tumor|stomach neuroendocrine tumor, well differentiated, low grade NCIT:C4635|EFO:1000275|UMLS:C0349529 owl:Class MONDO:0024539 biolink:NamedThing choroidal dystrophy, central areolar, 1 Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. tmpaxzxjjyw_mondo_relaxed.owl central areolar choroidal dystrophy caused by mutation in GUCY2D|CACD1|choroidal sclerosis|GUCY2D central areolar choroidal dystrophy|choroidal dystrophy, central areolar, 1|choroidal dystrophy, central areolar Orphanet:75377|OMIM:215500 owl:Class UBERON:0006855 biolink:NamedThing muscular coat of ureter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005971 biolink:NamedThing staphyloenterotoxemia Food poisoning that is caused by Staphylococcal infection. tmpaxzxjjyw_mondo_relaxed.owl staphyloenterotoxicosis|staphylococcal toxaemia due to food|staphylococcal food poisoning UMLS:C0038159|MESH:D013202|ICD10:A05.0|EFO:0007497|SCTID:84622004|DOID:96|NCIT:C35037|GARD:0009559|ICD9:005.0 owl:Class MONDO:0014857 biolink:NamedThing neurodevelopmental disorder with or without anomalies of the brain, eye, or heart tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with or without anomalies of the brain, eye, or heart; NEDBEH|neurodevelopmental disorder with or without anomalies of the brain, eye, or heart|rere-related neurodevelopmental syndrome|NEDBEH OMIM:616975|Orphanet:494344|UMLS:C4310772 owl:Class MONDO:0017792 biolink:NamedThing 7p22.1 microduplication syndrome 7p22.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial microduplication of the short arm of chromosome 7, characterized by intellectual disability, psychomotor and speech delays, craniofacial dysmorphism (including macrocephaly, frontal bossing, hypertelorism, abnormally slanted palpebral fissures, anteverted nares, low-set ears, microretrognathia) and cryptorchidia. Cardiac (e.g., patent foramen ovale and atrial septal defect), as well as renal, skeletal and ocular abnormalities may also be associated. tmpaxzxjjyw_mondo_relaxed.owl dup(7)(p22.1)|trisomy 7p22.1 SCTID:764703002|ICD10:Q92.3|Orphanet:314034|UMLS:CN203742 owl:Class HGNC:26821 biolink:NamedThing CCDC141 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014874 biolink:NamedThing pontocerebellar hypoplasia, type 2F Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene. tmpaxzxjjyw_mondo_relaxed.owl TSEN15 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 2F|pontocerebellar hypoplasia, type 2F; PCH2F|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15|PCH2F UMLS:C4310757|OMIM:617026 owl:Class MONDO:0028226 biolink:NamedThing autosomal recessive severe congenital neutropenia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:439849 owl:Class MONDO:0018542 biolink:NamedThing severe congenital neutropenia tmpaxzxjjyw_mondo_relaxed.owl neutropenia, severe congenital|SCN OMIM:300299|OMIM:616022|SCTID:89655007|Orphanet:42738|DOID:0050590|Orphanet:486|Orphanet:86788|OMIM:613107|ICD10:D70|MedDRA:10052210|OMIM:610738|OMIM:202700|ICD9:288.01|OMIM:612541|OMIMPS:202700|OMIM:615285 owl:Class MONDO:0013552 biolink:NamedThing hereditary spastic paraplegia 52 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene. tmpaxzxjjyw_mondo_relaxed.owl cerebral palsy, spastic quadriplegic, 6|spastic quadriplegic cerebral palsy 6|SPG52|CPSQ6|autosomal recessive spastic paraplegia 52|hereditary spastic paraplegia 52|AP4S1 hereditary spastic paraplegia|hereditary spastic paraplegia type 52|hereditary spastic paraplegia caused by mutation in AP4S1|cerebral palsy, spastic quadriplegic, 6, formerly|spastic paraplegia 52, autosomal recessive DOID:0110804|Orphanet:280763|UMLS:C3279743|OMIM:614067 owl:Class MONDO:0011951 biolink:NamedThing amyotrophic lateral sclerosis type 6 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive amyotrophic lateral sclerosis 6|amyotrophic lateral sclerosis caused by mutation in FUS|amyotrophic lateral sclerosis 6 with or without frontotemporal dementia|FUS amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 6, with or without frontotemporal dementia|ALS6 DOID:0060198|MESH:C567699|GARD:0009874|Orphanet:275872|Orphanet:803|OMIM:608030 https://rarediseases.info.nih.gov/diseases/9874/amyotrophic-lateral-sclerosis-type-6 owl:Class MONDO:0004425 biolink:NamedThing hyperthyroidism Overactivity of the thyroid gland resulting in overproduction of thyroid hormone and increased metabolic rate. Causes include diffuse hyperplasia of the thyroid gland (Graves' disease), single nodule in the thyroid gland, and thyroiditis. The symptoms are related to the increased metabolic rate and include weight loss, fatigue, heat intolerance, excessive sweating, diarrhea, tachycardia, insomnia, muscle weakness, and tremor. tmpaxzxjjyw_mondo_relaxed.owl overactive thyroid DOID:7998|NCIT:C3123|EFO:0009189|OMIM:603373|OMIM:609152|Orphanet:99819|SCTID:34486009|ICD9:242.90|MESH:D006980|ICD10:E05.9 owl:Class HGNC:24415 biolink:NamedThing BOLA3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:50949 biolink:NamedThing serotonin uptake inhibitor A compound that specifically inhibits the reuptake of serotonin in the brain. This increases the serotonin concentration in the synaptic cleft which then activates serotonin receptors to a greater extent. tmpaxzxjjyw_mondo_relaxed.owl serotonin reuptake inhibitor|SSRI owl:Class CHEBI:48278 biolink:NamedThing serotonergic drug tmpaxzxjjyw_mondo_relaxed.owl serotonergic agents|serotonin drugs|serotonergic drugs owl:Class MONDO:0019581 biolink:NamedThing acral persistent papular mucinosis Acral persistent papular mucinosis is a rare chronic form of localized lichen myxedematosus characterized by the development of multiple symmetrical skin-colored mucinous papules exclusively on the extensor surface of the hands and distal forearms. tmpaxzxjjyw_mondo_relaxed.owl SCTID:238949006|ICD10:L98.5|Orphanet:90396|UMLS:C0406660|ICD9:701.8 owl:Class NCBITaxon:772 biolink:NamedThing Bartonellaceae tmpaxzxjjyw_mondo_relaxed.owl Bartonella group GC_ID:11|PMID:8240958 ncbi_taxonomy owl:Class MONDO:0005949 biolink:NamedThing roseolovirus infectious disease Infection with roseolovirus, the most common in humans being exanthema subitum, a benign disease of infants and young children. tmpaxzxjjyw_mondo_relaxed.owl Roseolovirus disease or disorder|Roseolovirus caused disease or disorder|Roseolovirus infectious disease EFO:0007474|MESH:D019349|UMLS:C0376549 owl:Class MONDO:0006270 biolink:NamedThing lobular breast carcinoma in situ A non-invasive adenocarcinoma of the breast characterized by a proliferation of monomorphic cells completely filling the lumina. The overall lobular architecture is preserved. It is frequently multifocal (90% in some series) and bilateral. It seldom becomes invasive; however there is an increased risk of infiltrating ductal adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl non-infiltrating lobular breast carcinoma|LCIS|lobular carcinoma in situ (LCIS)|non-invasive lobular carcinoma of the breast|lobular carcinoma in situ|lobular carcinoma in situ of breast|lobular Ca in situ of breast|lobular Ca in situ of the breast|non-infiltrating lobular carcinoma of the breast|lobular carcinoma in situ of the breast|lobular breast carcinoma in situ|non-infiltrating lobular carcinoma|non-infiltrating lobular carcinoma of breast|non-invasive lobular breast carcinoma|non-invasive lobular carcinoma of breast|lobular carcinoma in situ of the breast (LCIS)|breast lobular carcinoma in situ NCIT:C4018|EFO:1000326|UMLS:C0334381|SCTID:109888004|ONCOTREE:LCIS|ICDO:8520/2|UMLS:C0279563 owl:Class MONDO:0002486 biolink:NamedThing lobular neoplasia A spectrum of non-invasive neoplastic lesions that arise from the terminal ductal lobular units of the breast. There is atypical small epithelial cell proliferation. Pagetoid involvement of the terminal ducts may or may not be present. In the minority of cases, there is a risk for subsequent development of invasive ductal or invasive lobular carcinoma. tmpaxzxjjyw_mondo_relaxed.owl lobular intraepithelial neoplasia|lobular neoplasia|LN|LIN NCIT:C27939|UMLS:C0861352|DOID:3010 owl:Class UBERON:0004000 biolink:NamedThing tarsal gland acinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036274 biolink:NamedThing tonsillar pillar tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011421 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type|MC5DN1|mitochondrial complex V deficiency|mitochondrial complex V (ATP synthase) deficiency, nuclear type 1|ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2|Complex 5 mitochondrial respiratory chain deficiency|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1 DOID:0050768|Orphanet:254913|UMLS:C3276276|ICD10:E88.8|GARD:0001459|OMIM:604273 https://rarediseases.info.nih.gov/diseases/1459/mitochondrial-complex-v-deficiency owl:Class MONDO:0000066 biolink:NamedThing mitochondrial complex deficiency tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000526 biolink:NamedThing exposure to neurotransmitter An exposure to neurotransmitter. tmpaxzxjjyw_mondo_relaxed.owl exposure to neurotransmitter owl:Class UBERON:0001774 biolink:NamedThing skeletal muscle of trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014291 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 54 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 5q31. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant 54|autosomal dominant nonsyndromic deafness type 54|DFNA54|autosomal dominant nonsyndromic deafness 54|autosomal dominant deafness 54 ICD10:H90.3|OMIM:615649|DOID:0110580 owl:Class MONDO:0002130 biolink:NamedThing upper limb mononeuronitis A disease affecting a single peripheral nerve of the upper limb. tmpaxzxjjyw_mondo_relaxed.owl mononeuritis of upper limb, unspecified|mononeuritis upper limb|mononeuritis simplex of forelimb|mononeuritis of upper limb|forelimb mononeuritis simplex DOID:1844|ICD9:354.9 owl:Class MONDO:0019458 biolink:NamedThing acute basophilic leukemia A rare acute myeloid leukemia in which the immature cells differentiate towards basophils. tmpaxzxjjyw_mondo_relaxed.owl leukemia basophilic|basophilic leukemia ICD10:C94.7|NCIT:C3164|UMLS:C0221292|UMLS:C0023437|MESH:D015471|Orphanet:86849|SCTID:307592006|EFO:0003029|ONCOTREE:ABL|ICDO:9870/3 owl:Class MONDO:0018737 biolink:NamedThing catastrophic antiphospholipid syndrome tmpaxzxjjyw_mondo_relaxed.owl catastrophic APS|caps SCTID:609329007|ICD9:289.81|UMLS:C3662487|Orphanet:464343|GARD:0009820|ICD10:D68.6|UMLS:CN242096 owl:Class MONDO:8000010 biolink:NamedThing antiphospholipid syndrome A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease. tmpaxzxjjyw_mondo_relaxed.owl Hughes syndrome|lupus anticoagulant, familial|familial lupus anticoagulant|antiphospholipid antibody syndrome|antiphospholipid syndrome DOID:2988|NCIT:C61283|ICD10:D68.61|MESH:D016736|OMIM:107320|SCTID:26843008|UMLS:C0085278|ICD9:279.49|GARD:0005824|Orphanet:80 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:29205 biolink:NamedThing ERGIC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010947 biolink:NamedThing Budd-Chiari syndrome Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. tmpaxzxjjyw_mondo_relaxed.owl membranous obstruction of the inferior vena cava|BDCHS|Budd-Chiari syndrome|membranous obstruction of Inferior vena cava GARD:0005968|MedDRA:10006537|UMLS:C0856761|MESH:D006502|ICD9:453.0|SCTID:82385007|ICD10:I82.0|OMIM:600880|Orphanet:131 https://rarediseases.info.nih.gov/diseases/5968/budd-chiari-syndrome owl:Class UBERON:0007271 biolink:NamedThing appendage musculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017424 biolink:NamedThing non-syndromic brachydactyly tmpaxzxjjyw_mondo_relaxed.owl brachydactyly|nonsyndromic brachydactyly|isolated brachydactyly SCTID:43476002|Orphanet:294937 Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy owl:Class MONDO:0017421 biolink:NamedThing non-syndromic terminal limb defects tmpaxzxjjyw_mondo_relaxed.owl terminal meromelia|isolated terminal limb defects|terminal limb defects|nonsyndromic terminal limb defects Orphanet:294929 owl:Class CL:0002605 biolink:NamedThing astrocyte of the cerebral cortex An astrocyte of the cerebral cortex. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T06:57:36Z cell owl:Class CL:1001579 biolink:NamedThing cerebral cortex glial cell Glial cell of cerebral cortex. tmpaxzxjjyw_mondo_relaxed.owl cerebral cortex glial cells|cerebrum cortex glial cell|brain cortex glial cell CALOHA:TS-1256 owl:Class MONDO:0010570 biolink:NamedThing craniofrontonasal syndrome Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism. tmpaxzxjjyw_mondo_relaxed.owl craniofrontonasal dysostosis|CFND|CFNS|craniofrontonasal syndrome|craniofrontonasal dysplasia Orphanet:1520|OMIM:304110|ICD10:Q87.1|SCTID:715421009|DOID:14737|MESH:C536456|GARD:0001578|UMLS:C0220767 owl:Class MONDO:0020256 biolink:NamedThing congenital trochlear nerve palsy tmpaxzxjjyw_mondo_relaxed.owl congenital superior oblique palsy|congenital fourth cranial nerve palsy|congenital CNIV palsy Orphanet:98686|ICD10:H49.1 owl:Class MONDO:0020446 biolink:NamedThing coronary sinus stenosis tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q21.1|Orphanet:99117 owl:Class MONDO:0019831 biolink:NamedThing congenital anomaly of the coronary sinus tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q21.1|Orphanet:95500 owl:Class MONDO:0014090 biolink:NamedThing polydactyly, postaxial, type A6 tmpaxzxjjyw_mondo_relaxed.owl polydactyly, postaxial, type A6|PAPA6 Orphanet:93334|OMIM:615226|UMLS:C3808889 owl:Class MONDO:0021240 biolink:NamedThing tongue neoplasm A neoplasm (disease) that involves the tongue. tmpaxzxjjyw_mondo_relaxed.owl tumor of the tongue|tongue neoplasm (disease)|neoplasm of tongue|tumor of tongue|tongue tumor|neoplasm of the tongue NCIT:C3416|SCTID:126778001|EFO:0003871 owl:Class GO:1904427 biolink:NamedThing positive regulation of calcium ion transmembrane transport Any process that activates or increases the frequency, rate or extent of calcium ion transmembrane transport. tmpaxzxjjyw_mondo_relaxed.owl upregulation of transmembrane calcium transport|up-regulation of transmembrane calcium transport|up regulation of transmembrane calcium transport|up-regulation of calcium ion membrane transport|up regulation of calcium ion transmembrane transport|up-regulation of calcium ion transmembrane transport|activation of calcium ion membrane transport|positive regulation of calcium ion membrane transport|upregulation of calcium ion transmembrane transport|up regulation of calcium ion membrane transport|upregulation of calcium ion membrane transport|positive regulation of transmembrane calcium transport|activation of transmembrane calcium transport|activation of calcium ion transmembrane transport owl:Class GO:1904064 biolink:NamedThing positive regulation of cation transmembrane transport Any process that activates or increases the frequency, rate or extent of cation transmembrane transport. tmpaxzxjjyw_mondo_relaxed.owl upregulation of cation transmembrane transport|up-regulation of cation transmembrane transport|activation of cation transmembrane transport|up regulation of cation transmembrane transport owl:Class GO:0070507 biolink:NamedThing regulation of microtubule cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. tmpaxzxjjyw_mondo_relaxed.owl regulation of microtubule cytoskeleton organisation|regulation of microtubule dynamics owl:Class MONDO:0024890 biolink:NamedThing pineal parenchymal cell neoplasm A neoplasm arising from the pineocyte, a cell with photosensory and neuroendocrine functions. It may be composed of mature elements or primitive, immature cells. The cellular composition determines the biological behavior and clinical outcome. Three types are recognized: pineoblastoma, pineocytoma, and pineal parenchymal tumor of intermediate differentiation (Adapted from WHO.) tmpaxzxjjyw_mondo_relaxed.owl pineal parenchymal tumor|pineal parenchymal neoplasm|pineal parenchymal cell tumor|pineocytic neoplasm|pineal gland tumor|neoplasm of pineal gland|pineal parenchymal cell neoplasm|tumor of the pineal gland|pineal gland neoplasm|pineocytic tumor|neoplasm of the pineal gland|tumor of pineal gland ICDO:9360/1|UMLS:C0031941|NCIT:C6965 owl:Class CL:0002365 biolink:NamedThing medullary thymic epithelial cell An epithelial cell of the medullary thymus. This cell type expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output. tmpaxzxjjyw_mondo_relaxed.owl mTEC BTO:0004563 tmeehan 2010-09-23T03:17:14Z cell owl:Class MONDO:0014605 biolink:NamedThing microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant mental retardation 36|autosomal dominant intellectual disability 36|mental retardation, autosomal dominant 36|intellectual disability, autosomal dominant type 36|mental retardation, autosomal dominant type 36|intellectual disability, autosomal dominant 36|autosomal dominant non-syndromic intellectual disability 36|MRD36 DOID:0070066|Orphanet:457284|OMIM:616362 owl:Class NCBITaxon:66360 biolink:NamedThing Cochliomyia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:54281 biolink:NamedThing Chrysomyini tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030947 biolink:NamedThing neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities tmpaxzxjjyw_mondo_relaxed.owl CONRIBA OMIM:619173 owl:Class UBERON:0000118 biolink:NamedThing lung bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000428 biolink:NamedThing Y-linked disease Y-linked form of disease. tmpaxzxjjyw_mondo_relaxed.owl diseases, Y-linked genetic|genetic disease, Y-linked|disease or disorder, Y-linked|disease, Y-linked genetic|genetic diseases, Y chromosome linked|Y-linked genetic diseases|genetic diseases, Y linked|disease, Y-linked|Y-linked genetic disease|genetic diseases, Y-chromosome linked|Y-linked disease or disorder|Y linked genetic diseases MESH:D050174|UMLS:C1563751|DOID:0050738 owl:Class MONDO:0014439 biolink:NamedThing Bardet-Biedl syndrome 11 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene. tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome type 11|BBS11|Bardet-Biedl syndrome caused by mutation in TRIM32|TRIM32 Bardet-Biedl syndrome|Bardet-Biedl syndrome 11 DOID:0110133|GARD:0010210|MESH:C565920|ICD10:Q87.89|UMLS:C1859569|OMIM:615988 owl:Class GO:0070009 biolink:NamedThing serine-type aminopeptidase activity Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004177 biolink:NamedThing aminopeptidase activity Catalysis of the hydrolysis of a single N-terminal amino acid residue from a polypeptide chain. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002563 biolink:NamedThing jejunal somatostatinoma A somatostatin-producing neuroendocrine tumor that arises from the jejunum. It is characterized by the presence of tubulo-glandular structures. tmpaxzxjjyw_mondo_relaxed.owl Delta cell tumor of jejunum|Somatosatinoma of the jejunum|jejunal somatostatin-producing NET|Delta cell tumor of the jejunum|jejunal delta cell somatostatin producing tumor|jejunal somatostatin producing tumor|jejunal somatostatin-producing neuroendocrine tumor|Somatosatinoma of jejunum NCIT:C5787|UMLS:C1334297|DOID:3216 owl:Class MONDO:0015064 biolink:NamedThing jejunal neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the jejunum. tmpaxzxjjyw_mondo_relaxed.owl jejunal neuroendocrine tumor|jejunal neuroendocrine neoplasm UMLS:CN197357|NCIT:C135090|Orphanet:100077 Editor note: TODO apply G1/G2 pattern owl:Class MONDO:0012190 biolink:NamedThing nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome tmpaxzxjjyw_mondo_relaxed.owl nephropathy with pretibial epidermolysis bullosa and deafness|nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome OMIM:609057|Orphanet:300333|UMLS:C1836823|MESH:C563798 owl:Class GO:0046928 biolink:NamedThing regulation of neurotransmitter secretion Any process that modulates the frequency, rate or extent of the regulated release of a neurotransmitter from a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016711 biolink:NamedThing desmoplastic/nodular medulloblastoma A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache. tmpaxzxjjyw_mondo_relaxed.owl desmoplastic medulloblastoma|Desmoplastic medulloblastoma|desmoplastic nodular medulloblastoma|desmoplastic/nodular medulloblastoma OMIM:155255|NCIT:C4956|UMLS:C0751291|ONCOTREE:DMBL|EFO:0005699|ICD10:C71.6|Orphanet:251863|ICDO:9471/3 owl:Class MONDO:0012199 biolink:NamedThing posterior polymorphous corneal dystrophy 2 Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene. tmpaxzxjjyw_mondo_relaxed.owl PPCD2|COL8A2 posterior polymorphous corneal dystrophy|posterior polymorphous corneal dystrophy type 2|Ppcd2|corneal dystrophy, posterior polymorphous, type 2|corneal dystrophy, POSTERIOR polymorphous, 2|posterior polymorphous corneal dystrophy caused by mutation in COL8A2 DOID:0110856|UMLS:C1852795|ICD10:H18.50|MESH:C565176|Orphanet:98973|OMIM:609140 owl:Class MONDO:0005715 biolink:NamedThing congenital toxoplasmosis Toxoplasma infection that is present from birth. tmpaxzxjjyw_mondo_relaxed.owl toxoplasmosis - congen.|mother-to-child transmission of toxoplasmosis|congenital toxoplasmosis|toxoplasmosis, congenital|Toxoplasma embryofetopathy|Toxoplasma embryopathy GARD:0010326|UMLS:C0040560|Orphanet:858|SCTID:73893000|NCIT:C50503|ICD10:P37.1|EFO:0007220|ICD9:771.2|MESH:D014125|DOID:13336|MedDRA:10010652 owl:Class MONDO:0016393 biolink:NamedThing hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. tmpaxzxjjyw_mondo_relaxed.owl Bosma-Henkin-Christiansen syndrome|Bosma arhinia-microphthalmia syndrome Orphanet:2250|OMIM:603457|UMLS:CN201299|ICD10:Q87.8 owl:Class MONDO:0010444 biolink:NamedThing X-linked dyserythropoetic anemia with abnormal platelets and neutropenia tmpaxzxjjyw_mondo_relaxed.owl XLANP|anemia, X-linked, with or without neutropenia and/or platelet abnormalities Orphanet:363727|ICD10:D64.4|OMIM:300835 owl:Class CHEBI:36339 biolink:NamedThing baryon Baryon is a fermion that does experience the strong force (strong interaction). The term is derived from the Greek betaalpharhoupsilonsigma (heavy). tmpaxzxjjyw_mondo_relaxed.owl baryons owl:Class MONDO:0003707 biolink:NamedThing distal biliary tract carcinoma A carcinoma that arises from the common bile duct distal to the insertion of the cystic duct. tmpaxzxjjyw_mondo_relaxed.owl extrahepatic (distal) bile duct cancer|distal bile duct carcinoma|carcinoma of the distal biliary tract|carcinoma of distal biliary tract|distal biliary tract carcinoma|distal bile duct cancer NCIT:C7109|UMLS:C1333308|DOID:5923 owl:Class MONDO:0007460 biolink:NamedThing discrimination, Two-point, reduction 1N tmpaxzxjjyw_mondo_relaxed.owl discrimination, TWO-point, reduction IN|discrimination, Two-point, reduction type 1N|sensory discrimination OMIM:126180 owl:Class CHEBI:24433 biolink:NamedThing group A defined linked collection of atoms or a single atom within a molecular entity. tmpaxzxjjyw_mondo_relaxed.owl grupo|Gruppe|grupos|group|groupe|Rest owl:Class MONDO:0001991 biolink:NamedThing malignant cardiac germ cell tumor A rare malignant germ cell tumor that arises from the pericardium. tmpaxzxjjyw_mondo_relaxed.owl malignant heart germ cell neoplasm|malignant germ cell neoplasm of heart|malignant heart germ cell tumor|malignant Cardiac germ cell neoplasm|malignant germ cell tumor of heart|malignant germ cell tumor of the heart|malignant germ cell neoplasm of the heart|malignant Cardiac germ cell tumor DOID:14535|NCIT:C5371|UMLS:C1334566 owl:Class MONDO:0700018 biolink:NamedThing chromosome 11 disorder Chromosomal disorder in which chromosome 11 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:2973 biolink:NamedThing DNM1L tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017468 biolink:NamedThing congenital shoulder dislocation tmpaxzxjjyw_mondo_relaxed.owl ICD9:755.59|ICD10:Q68.8|SCTID:23876003|Orphanet:295030 owl:Class MONDO:0017430 biolink:NamedThing non-syndromic congenital joint dislocations tmpaxzxjjyw_mondo_relaxed.owl congenital joint dislocations Orphanet:294951 owl:Class MONDO:0001979 biolink:NamedThing dumping syndrome A disorder of the gastrointestinal tract. It is typically caused by the rapid emptying of undigested food from the stomach to the small intestine following gastroesophageal surgery but may be seen secondary to diabetes or the use of certain medications. Clinical signs may be seen 30-60 minutes after eating (early dumping): cramping, nausea, vomiting and diarrhea or they may be seen 1-3 hours later as a result of hyperinsulinemic hypoglycemia (late dumping): sweating, dizziness, confusion and heart palpitations. Untreated, the clinical course progresses to malnutrition and weight loss. tmpaxzxjjyw_mondo_relaxed.owl dumping (jejunal) syndrome|jejunal syndrome DOID:14495|EFO:1001307|MESH:D004377|ICD10:K91.1|NCIT:C2994|UMLS:C0013288|SCTID:80193009 owl:Class ENVO:01001677 biolink:NamedThing fluid interface layer A surface layer which separates two portions of fluid with respect to either 1) a discontinuity of some fluid property or 2) some derivative of one of these properties in a direction normal to the interface. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008286 biolink:NamedThing crossed polysyndactyly Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994. tmpaxzxjjyw_mondo_relaxed.owl polysyndactyly, crossed|crossed polydactyly GARD:0001617|UMLS:C1867999|OMIM:175690|ICD10:Q70.4|Orphanet:2935|MESH:C566773 https://rarediseases.info.nih.gov/diseases/1617/crossed-polysyndactyly owl:Class MONDO:0000671 biolink:NamedThing finger agnosia An agnosia characterized by an inabilty to distinguish, name, or recognize the fingers tmpaxzxjjyw_mondo_relaxed.owl finger agnosia (disease)|finger agnosia|manual digit agnosia finger agnosia (disease) HP:0010525|DOID:0060141 It is one of a tetrad of symptoms in Gerstmann syndrome, although it is also possible for finger agnosia to exist on its own without any other disorder: Della Sala, S, and Spinnler, H. Finger Agnosia: fiction or reality? Archives of Neurology 51.5 (1994): 448–50. owl:Class MONDO:0015133 biolink:NamedThing quantitative and/or qualitative congenital phagocyte defect tmpaxzxjjyw_mondo_relaxed.owl Orphanet:101985 Editor note: check how relates to phagocytosis terms owl:Class ENVO:01001022 biolink:NamedThing natural lake A lake which has formed as the result of processes that are not or are only minimally driven by human activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018351 biolink:NamedThing adenocarcinoma of penis A adenocarcinoma that involves the penis. tmpaxzxjjyw_mondo_relaxed.owl penile adenocarcinoma|adenocarcinoma of the penis|penis adenocarcinoma ICD10:C60.9|ICD10:C60.2|ICD10:C60.8|ICD10:C60.0|Orphanet:398053|ICD10:C60.1 Editor note: consider merging with Paget disease of penis owl:Class MONDO:0006360 biolink:NamedThing penile carcinoma A carcinoma that arises from epithelial cells of the penis tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the penis|cancer of the penis|cancer penis|penile carcinoma|cancer of penis|penile cancer|penile cancer, adult|penis carcinoma|carcinoma of penis GARD:0009366|DOID:3449|EFO:1000465|NCIT:C9061|SCTID:372106005 owl:Class MONDO:0009974 biolink:NamedThing familial hemophagocytic lymphohistiocytosis type 1 Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth. tmpaxzxjjyw_mondo_relaxed.owl familial hemophagocytic lymphohistiocytosis 1|familial HLH|familial hemophagocytic lymphohistiocytosis|Hplh1|HLH1|hemophagocytic lymphohistiocytosis, familial|hemophagocytic lymphohistiocytosis, familial, 1|Erythrophagocytic lymphohistiocytosis, familial|HPLH1|FHL1|familial hemophagocytic lymphohistiocytosis type 1|reticulosis, familial histiocytic|Hlh1|hemophagocytic reticulosis, familial UMLS:CN205265|OMIM:603553|DOID:0110921|OMIM:608898|Orphanet:540|OMIM:267700|NCIT:C61276|UMLS:C0272199|UMLS:CN034020|OMIM:613101|OMIM:603552|ICD10:D76.1|MedDRA:10070904 Editor note: type 1 split out owl:Class NCBITaxon:11029 biolink:NamedThing Ross River virus tmpaxzxjjyw_mondo_relaxed.owl RRV GC_ID:1 ncbi_taxonomy owl:Class GO:0010985 biolink:NamedThing negative regulation of lipoprotein particle clearance Any process that decreases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043541 biolink:NamedThing viral conjunctivitis Conjunctivitis resulting from viral infection. tmpaxzxjjyw_mondo_relaxed.owl viral Conjunctivitides|viral conjunctivitis|Viruses caused conjunctivitis (disease)|Conjunctivitides, viral|Viruses conjunctivitis (disease) UMLS:C0009774|NCIT:C34509|SCTID:45261009|MESH:D003236 owl:Class MONDO:0016226 biolink:NamedThing specific language disorder tmpaxzxjjyw_mondo_relaxed.owl dysphasia|specific language disorder UMLS:CN200992|Orphanet:211053 owl:Class MONDO:0016225 biolink:NamedThing specific learning disability Diagnosed when there are specific deficits in an individualbs ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individualbs performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from dsm-V) tmpaxzxjjyw_mondo_relaxed.owl specific learning difficulty|specific learning disorder UMLS:CN226885|Orphanet:211047|MESH:D000067559 owl:Class CHEBI:23443 biolink:NamedThing cyclic amide tmpaxzxjjyw_mondo_relaxed.owl cyclic amide|cyclic amides owl:Class MONDO:0009731 biolink:NamedThing nephrosis-deafness-urinary tract-digital malformations syndrome Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant. tmpaxzxjjyw_mondo_relaxed.owl nephrosis deafness urinary tract digital malformation|Braun-Bayer syndrome|nephrosis with deafness and urinary tract and digital malformations GARD:0003943|MESH:C536402|ICD10:Q87.8|OMIM:256200|Orphanet:2669|UMLS:C1850552 owl:Class MONDO:0020283 biolink:NamedThing uveitis An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision. tmpaxzxjjyw_mondo_relaxed.owl inflammation of uvea|uveitis (disease)|uvea inflammation|uveitis uveitis (disease) DOID:13141|SCTID:75614007|ICD10:H20.9|Orphanet:98715|NCIT:C26909|SCTID:128473001|MESH:D014605|MedDRA:10046851|HP:0000554|EFO:1001231|UMLS:C0042164 owl:Class MONDO:0015743 biolink:NamedThing idiopathic bilateral vestibulopathy Idiopathic bilateral vestibulopathy is a rare otorhinolaryngologic disease characterized by dysfunction of both peripheral labyrinths or of the eighth nerves, which presents with persistent unsteadiness of gait (particularly in darkness, during eye closure or under impaired visual conditions, or when standing/walking on uneven, soft or wobbly ground) and oscillopsia associated with head movements. The disease may be progressive, presenting no episodes of vertigo, or sequential, presenting recurrent episodes of vertigo. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:171684|ICD10:H81.8|SCTID:737580004|UMLS:C4545229 owl:Class UBERON:0003519 biolink:NamedThing thoracic cavity blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:26031 biolink:NamedThing PIGV tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004312 biolink:NamedThing suprasellar meningioma A meningioma that affects the suprasellar region. tmpaxzxjjyw_mondo_relaxed.owl meningioma (disease) of sella turcica|sella turcica meningioma (disease) UMLS:C1336535|NCIT:C6776|DOID:7634 owl:Class GO:0002865 biolink:NamedThing negative regulation of acute inflammatory response to antigenic stimulus Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. tmpaxzxjjyw_mondo_relaxed.owl inhibition of acute inflammatory response to antigenic stimulus|down regulation of acute inflammatory response to antigenic stimulus|downregulation of acute inflammatory response to antigenic stimulus|down-regulation of acute inflammatory response to antigenic stimulus owl:Class MONDO:0023182 biolink:NamedThing Franceschini Vardeu Guala syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0002371|MESH:C537272|UMLS:C2931463 https://rarediseases.info.nih.gov/diseases/2371/franceschini-vardeu-guala-syndrome owl:Class MONDO:0060507 biolink:NamedThing retinal dystrophy with or without macular staphyloma tmpaxzxjjyw_mondo_relaxed.owl retinal dystrophy with or without macular staphyloma|RDMS OMIM:617547|UMLS:C4479651 owl:Class MONDO:0011075 biolink:NamedThing retinitis pigmentosa 18 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene. tmpaxzxjjyw_mondo_relaxed.owl RP 18|RP18|PRPF3 retinitis pigmentosa|retinitis pigmentosa caused by mutation in PRPF3|retinitis pigmentosa type 18|retinitis pigmentosa 18 DOID:0110356|MESH:C563320|OMIM:601414|UMLS:C1832378|GARD:0010392|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10392/retinitis-pigmentosa-18 owl:Class MONDO:0010867 biolink:NamedThing PARC syndrome PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. tmpaxzxjjyw_mondo_relaxed.owl PARC syndrome|poikiloderma-alopecia-retrognathism-cleft palate syndrome|poikiloderma, alopecia, retrognathism, and cleft palate Orphanet:2825|GARD:0004223|ICD10:Q87.8|UMLS:C1838256|MESH:C537174|OMIM:600331 https://rarediseases.info.nih.gov/diseases/4223/parc-syndrome owl:Class MONDO:0005966 biolink:NamedThing spleen cancer A malignant neoplasm involving the spleen tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of spleen|splenic cancer|malignant tumor of spleen|malignant splenic tumor|malignant neoplasm of the spleen|cancer of spleen|splenic neoplasm|spleen neoplasm|spleen cancer|malignant tumour of spleen|malignant tumor of the spleen|malignant spleen neoplasm|cancer of the spleen|malignant splenic neoplasm EFO:0007491|DOID:672|SCTID:127230005|ICD10:C26.1|MESH:D013160|NCIT:C3539 owl:Class GO:0048635 biolink:NamedThing negative regulation of muscle organ development Any process that stops, prevents, or reduces the frequency, rate or extent of muscle development. tmpaxzxjjyw_mondo_relaxed.owl inhibition of muscle development|down-regulation of muscle development|downregulation of muscle development|down regulation of muscle development owl:Class CHEBI:33434 biolink:NamedThing elemental halogen tmpaxzxjjyw_mondo_relaxed.owl elemental halogens|elemental halogen owl:Class MONDO:0009124 biolink:NamedThing Dubowitz syndrome Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. tmpaxzxjjyw_mondo_relaxed.owl dwarfism-eczema-peculiar facies syndrome|Dubowitz's syndrome|intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci|Dubowitz syndrome|intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci ICD10:Q87.1|OMIM:223370|Orphanet:235|NCIT:C125591|UMLS:C0175691|MedDRA:10059589|GARD:0006290|ICD9:742.8|DOID:14796|MESH:C535718|SCTID:2593002 https://rarediseases.info.nih.gov/diseases/6290/dubowitz-syndrome owl:Class CHEBI:33303 biolink:NamedThing chalcogen Any p-block element belonging to the group 16 family of the periodic table. tmpaxzxjjyw_mondo_relaxed.owl calcogenos|chalcogene|Chalkogene|chalcogens|group 16 elements|calcogeno|Chalkogen|chalcogen|chalcogenes|group VI elements|anfigeno|anfigenos owl:Class MONDO:8000019 biolink:NamedThing vertigo, benign recurrent, 1 tmpaxzxjjyw_mondo_relaxed.owl vertigo, benign recurrent, 1 owl:Class MONDO:0033643 biolink:NamedThing inflammatory bowel disease 30 tmpaxzxjjyw_mondo_relaxed.owl IBD30 OMIM:619079 owl:Class UBERON:0004987 biolink:NamedThing mucosa of laryngopharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050864 biolink:NamedThing regulation of B cell activation Any process that modulates the frequency, rate or extent of B cell activation. tmpaxzxjjyw_mondo_relaxed.owl regulation of B lymphocyte activation|regulation of B-lymphocyte activation|regulation of B-cell activation owl:Class GO:0051249 biolink:NamedThing regulation of lymphocyte activation Any process that modulates the frequency, rate or extent of lymphocyte activation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006736 biolink:NamedThing dysplasia of cervix Abnormal development of immature squamous epithelial cells of the uterine cervix, a term used to describe premalignant cytological changes in the cervical epithelium. These atypical cells do not penetrate the epithelial basement membrane. tmpaxzxjjyw_mondo_relaxed.owl SCTID:73391008|ICD9:622.10|MedDRA:10013957|ICD9:622.11|UMLS:C0007868|ICD10:N87|MESH:D002578|ICD9:622.1|EFO:1000910 owl:Class CHEBI:50267 biolink:NamedThing protective agent Synthetic or natural substance which is given to prevent a disease or disorder or are used in the process of treating a disease or injury due to a poisonous agent. tmpaxzxjjyw_mondo_relaxed.owl chemoprotective agent|chemoprotectant|chemoprotectants|chemoprotective agents|protective agents owl:Class MONDO:0002226 biolink:NamedThing tuberculous oophoritis An urogenital tuberculosis involving a pathogenic inflammatory response in the ovary. tmpaxzxjjyw_mondo_relaxed.owl DOID:2148|SCTID:84194006|UMLS:C0275932|ICD9:016.6|ICD9:016.60|ICD10:A18.17 owl:Class UBERON:0000105 biolink:NamedThing life cycle stage A spatiotemporal region encompassing some part of the life cycle of an organism. tmpaxzxjjyw_mondo_relaxed.owl stage|developmental stage owl:Class UBERON:0000000 biolink:NamedThing processual entity An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019318 biolink:NamedThing hexose metabolic process The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. tmpaxzxjjyw_mondo_relaxed.owl hexose metabolism owl:Class MONDO:0020753 biolink:NamedThing Orthocoronavirinae infectious disease Infectious disease causes by viruses in the subfamily Orthocoronavirinae (coronaviruses). In humans, coronaviruses cause respiratory tract infections that can be mild, such as some cases of the common cold (among other possible causes, predominantly rhinoviruses), and others that can be lethal, such as SARS, MERS, and COVID-19. tmpaxzxjjyw_mondo_relaxed.owl coronavirus infectious disease DOID:0080599 owl:Class MONDO:0025514 biolink:NamedThing livedoid vasculopathy Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. These symptoms can persist for months to years and the ulcers often recur.Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Symptoms tend to worsen in the winter and summer months, and affect women more often then men. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia. tmpaxzxjjyw_mondo_relaxed.owl livedo reticularis with summer ulcerations|livedo vasculitis|white atrophy|segmental hyalinizing vasculopathy|livedoid vasculitis|livedoid vasculopathy|idiopathic atrophic blanche|livedo reticularis with winter ulcerations ICD9CM:709.1|GARD:0012784|ICD10:L95.0|DOID:0040099|ICD10CM:L95.0|SCTID:238762002|UMLS:C0343081|Orphanet:542643|ICD9:709.1 owl:Class UBERON:0036656 biolink:NamedThing wall of third ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036661 biolink:NamedThing wall of ventricular system of brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019756 biolink:NamedThing lobar holoprosencephaly Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally. tmpaxzxjjyw_mondo_relaxed.owl OMIM:610829|OMIM:609637|ICD10:Q04.2|Orphanet:93924|SCTID:253136007|OMIM:157170 owl:Class MONDO:0001039 biolink:NamedThing tonsillitis Inflammation of the tonsillar tissue. tmpaxzxjjyw_mondo_relaxed.owl inflammation of tonsil|throat infection - tonsillitis|chronic tonsillitis|tonsil inflammation|tonsilitis UMLS:C0040425|MESH:D014069|UMLS:C0149517|SCTID:90979004|DOID:10456|ICD9:474.00|ICD10:J35.01|NCIT:C116006 owl:Class MONDO:0009584 biolink:NamedThing intellectual disability, Buenos-Aires type Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe. tmpaxzxjjyw_mondo_relaxed.owl Mutchinick syndrome|intellectual deficit Buenos-Aires type|mental retardation Buenos Aires type|intellectual disability Buenos Aires type|intellectual disability, Buenos Aires type|mental retardation, Buenos Aires type Orphanet:3079|SCTID:725906006|MESH:C563095|GARD:0003485|OMIM:249630|UMLS:C0796080|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/3485/intellectual-deficit-buenos-aires-type owl:Class CHEBI:35605 biolink:NamedThing carbon oxoacid tmpaxzxjjyw_mondo_relaxed.owl carbon oxoacids|oxoacids of carbon owl:Class MONDO:0003017 biolink:NamedThing malignant peritoneal solitary fibrous tumor A malignant form of peritoneal solitary fibrous tumor. tmpaxzxjjyw_mondo_relaxed.owl peritoneal solitary fibrous tumor, malignant|pleural and peritoneal solitary fibrous tumor DOID:4490 owl:Class MONDO:0037737 biolink:NamedThing peritoneal solitary fibrous tumor A rare, usually benign fibroblastic neoplasm that arises from the peritoneum. It is characterized by the presence of prominent hemangiopericytoma-like vessels. tmpaxzxjjyw_mondo_relaxed.owl peritoneal solitary fibrous tumor NCIT:C126357|UMLS:C4288403 owl:Class MONDO:0003606 biolink:NamedThing adrenal medulla cancer A malignant neoplasm involving the adrenal medulla tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of adrenal medulla|malignant tumor of the adrenal medulla|malignant adrenal medulla neoplasm|adrenal medulla tumor|malignant tumor of adrenal medulla|adrenal medulla cancer|adrenal medulla neoplasm|malignant neoplasm of the adrenal medulla|cancer of adrenal medulla|malignant adrenal medulla tumor DOID:5719|GARD:0005755|UMLS:C0596046|UMLS:C0344456|NCIT:C4396|ICD10:C74.1|SCTID:371965009|NCIT:C4856 https://rarediseases.info.nih.gov/diseases/5755/adrenal-medulla-cancer owl:Class MONDO:0033203 biolink:NamedThing nephrotic syndrome 14 tmpaxzxjjyw_mondo_relaxed.owl NPHS14|familial steroid-resistant nephrotic syndrome with adrenal insufficiency|nephrotic syndrome 14|nephrotic syndrome, type 14|primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency DOID:0080265|UMLS:CN339707|Orphanet:506334|OMIM:617575 owl:Class MONDO:0012321 biolink:NamedThing Alzheimer disease 10 An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. tmpaxzxjjyw_mondo_relaxed.owl Ad10|AD10|Alzheimer disease, familial, 10|Alzheimer disease type 10|Alzheimer disease 10|Alzheimer disease familial 10|Alzheimer's disease 10|Alzheimer's disease type 10 MESH:C566465|OMIM:609636|ICD10:G30|DOID:0110043|UMLS:C1864828 owl:Class MONDO:0015140 biolink:NamedThing early-onset autosomal dominant Alzheimer disease Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old. tmpaxzxjjyw_mondo_relaxed.owl early-onset familial autosomal dominant Alzheimer disease|EOFAD|early-onset, autosomal dominant Alzheimer disease OMIM:104310|OMIM:605526|OMIM:609790|ICD10:G30.0|OMIM:104300|OMIM:611155|OMIM:607822|OMIM:602096|OMIM:611073|Orphanet:1020|UMLS:CN043596|GARD:0012798|OMIM:606187|OMIM:609636|OMIM:607116|OMIM:611154|OMIM:606889|OMIM:611152|OMIM:605055 owl:Class MONDO:0013005 biolink:NamedThing EAST syndrome SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia). tmpaxzxjjyw_mondo_relaxed.owl seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance|seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance|SESAMES|EAST syndrome|sesame syndrome|seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance|seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance|epilepsy, ataxia, sensorineural deafness and tubulopathy|epilepsy, ataxia, sensorineural deafness, and tubulopathy|seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome|seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance OMIM:612780|UMLS:C2748572|DOID:0060484|Orphanet:199343|GARD:0010514|SCTID:721207002|MESH:C557674 owl:Class CL:0019002 biolink:NamedThing tracheobronchial chondrocyte Any chondrocyte that is part of the tracheobronchial tree. tmpaxzxjjyw_mondo_relaxed.owl chondrocyte of tracheobronchial tree 2020-05-07 17:29:51+00:00 owl:Class MONDO:0009622 biolink:NamedThing Jawad syndrome Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated. tmpaxzxjjyw_mondo_relaxed.owl microcephaly with intellectual disability and digital anomalies|JAWAD syndrome|Kelly syndrome|microcephaly with mental retardation and digital anomalies|Jawad syndrome|JWDS OMIM:251255|UMLS:C0796063|Orphanet:313795 owl:Class GO:0002921 biolink:NamedThing negative regulation of humoral immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of a humoral immune response. tmpaxzxjjyw_mondo_relaxed.owl down regulation of humoral immune response|down-regulation of humoral immune response|inhibition of humoral immune response|downregulation of humoral immune response owl:Class MONDO:0011038 biolink:NamedThing cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements. tmpaxzxjjyw_mondo_relaxed.owl CAPOS|cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss|cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss|CAPOS syndrome|cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss MESH:C535351|Orphanet:1171|SCTID:720634003|OMIM:601338|GARD:0001188 owl:Class MONDO:0003100 biolink:NamedThing nerve plexus neoplasm A neoplasm (disease) that involves the nerve plexus. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of nerve plexus|nerve plexus neoplasm (disease)|nerve plexus tumors|neural plexus neoplasms|nerve plexus neoplasm|tumor of the nerve plexus|tumor of nerve plexus|neoplasm of the nerve plexus|neural plexus tumors|nerve plexus tumor|nerve plexus neoplasms DOID:4693|NCIT:C5822|UMLS:C1334945 owl:Class MONDO:0011218 biolink:NamedThing autosomal recessive congenital ichthyosis 11 tmpaxzxjjyw_mondo_relaxed.owl ARCI11|autosomal recessive ichthyosis with hypotrichosis|IFAH syndrome|ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome|ichthyosis with hypotrichosis, autosomal recessive|ichthyosis, congenital, autosomal recessive type 11|ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis|hypotrichosis-congenital ichthyosis syndrome|ichthyosis-follicular atrophoderma-hypotrichosis syndrome|autosomal recessive congenital ichthyosis 11|ichthyosis-hypotrichosis syndrome|ichthyosis, congenital, autosomal recessive 11|ARIH|autosomal recessive congenital ichthyosis type 11|IHS ICD10:Q80.8|Orphanet:91132|MESH:C536273|OMIM:602400|DOID:0060720|GARD:0010116|UMLS:C1835851 owl:Class UBERON:0007182 biolink:NamedThing muscle layer of infundibulum of uterine tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005983 biolink:NamedThing heart layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010622 biolink:NamedThing Neoplasm of the skeletal system A tumor (abnormal growth of tissue) of the skeleton. tmpaxzxjjyw_mondo_relaxed.owl Neoplasia of the skeletal system|Skeletal tumour|Skeletal tumor|Bone neoplasm NCIT:C3262|UMLS:C4020771|UMLS:C2732838|SNOMEDCT_US:442868003 peter 2010-06-25T08:54:46Z human_phenotype owl:Class ENVO:01001242 biolink:NamedThing canopy A vegetation layer which is formed by a collection of individual plant crowns, themselves constituting part of the aboveground portion of a plant community. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1044 biolink:NamedThing BGN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002712 biolink:NamedThing epidural spinal canal angiolipoma An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal. tmpaxzxjjyw_mondo_relaxed.owl epidural space angiolipoma|angiolipoma of extradural spinal canal|angiolipoma of epidural space|extradural spinal canal angiolipoma|angiolipoma of the epidural spinal canal|angiolipoma of the extradural spinal canal|angiolipoma of epidural spinal canal NCIT:C5424|UMLS:C1333416|DOID:3617 owl:Class MONDO:0002713 biolink:NamedThing epidural spinal canal neoplasm A primary or metastatic neoplasm that involves the space between the vertebral periosteum and dura mater that surrounds the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl epidural tumor|extradural spinal tumors|tumor of epidural spinal canal|extradural neoplasm|tumor of the epidural spinal canal|epidural spinal canal tumors|tumor of the extradural spinal canal|neoplasm of epidural spinal canal|epidural spinal neoplasms|extradural spinal canal tumor|epidural space neoplasm|epidural space tumor|neoplasm of the extradural spinal canal|tumor of epidural space|epidural spinal canal tumor|extradural tumor|epidural spinal canal neoplasm|extradural spinal canal neoplasms|tumor of extradural spinal canal|epidural spinal tumors|neoplasm of extradural spinal canal|neoplasm of the epidural spinal canal|extradural spinal neoplasms|neoplasm of epidural space|epidural neoplasm|extradural spinal canal neoplasm EFO:1000923|DOID:3618|MESH:D015174|UMLS:C0014536|NCIT:C3019 owl:Class MONDO:0002693 biolink:NamedThing lateral sinus thrombosis Formation or presence of a blood clot (thrombus) in the lateral sinuses. This condition is often associated with ear infections (otitis media or mastoiditis) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from craniocerebral trauma; brain neoplasms; neurosurgical procedures; thrombophilia; and other conditions. Clinical features include headache; vertigo; and increased intracranial pressure. tmpaxzxjjyw_mondo_relaxed.owl thrombosis transverse sinus|thrombosis of lateral venous sinus SCTID:192761004|UMLS:C0270639|DOID:3574|MESH:D020227 owl:Class MONDO:0002692 biolink:NamedThing intracranial sinus thrombosis Formation or presence of a blood clot (thrombus) in the cranial sinuses, large endothelium-lined venous channels situated within the skull. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe headache; seizure; and other neurological defects. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037198|MESH:D012851|DOID:3572 owl:Class MONDO:0020348 biolink:NamedThing acute motor and sensory axonal neuropathy Acute motor-sensory axonal neuropathy (AMSAN) is a motor-sensory, axonal form of Guillain-BarrC) syndrome (GBS). tmpaxzxjjyw_mondo_relaxed.owl acute motor-sensory axonal Guillain-BarrC) syndrome|AMSAN|acute motor-sensory axonal neuropathy|acute motor-sensory axonal Guillain-Barré syndrome|acute motor-sensory axonal GBS SCTID:716722005|ICD10:G61.0|NCIT:C116927|UMLS:CN207195|Orphanet:98917 owl:Class MONDO:0003494 biolink:NamedThing ovarian squamous cell carcinoma A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor. tmpaxzxjjyw_mondo_relaxed.owl ovarian squamous cell cancer|ovary squamous cell carcinoma|ovarian squamous cell carcinoma DOID:5531|UMLS:C2019443|NCIT:C40093|EFO:1000432 owl:Class MONDO:0003495 biolink:NamedThing ovarian squamous cell neoplasm A squamous cell tumor that arises from the ovary and is not associated with a germ cell tumor. tmpaxzxjjyw_mondo_relaxed.owl ovarian squamous cell neoplasm|ovary squamous cell neoplasm|ovarian squamous cell tumor NCIT:C40092|DOID:5532|UMLS:C1518739 owl:Class MONDO:0008791 biolink:NamedThing isolated anencephaly/exencephaly Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days. tmpaxzxjjyw_mondo_relaxed.owl absence of a large part of the brain and the skull|ANPH|anencephaly 2022-12-01 ICD9:740.0|OMIM:206500|ICD10:Q00.0|GARD:0005808|SCTID:89369001|Orphanet:1048 This will be obsoleted in the 2021-12-01 release. The term will be split into two terms: MONDO:8000007 anencephaly 1 and MONDO:0023893 anencephaly. owl:Class MONDO:0022823 biolink:NamedThing congenital contractures tmpaxzxjjyw_mondo_relaxed.owl GARD:0001477 https://rarediseases.info.nih.gov/diseases/1477/congenital-contractures owl:Class NCBITaxon:137 biolink:NamedThing Spirochaetaceae tmpaxzxjjyw_mondo_relaxed.owl Treponemataceae PMID:23908650|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0000940 biolink:NamedThing trypanosomiasis Infection with protozoa of the genus trypanosoma. tmpaxzxjjyw_mondo_relaxed.owl Trypanosomiases|Trypanosoma disease or disorder|Trypanosoma caused disease or disorder|Trypanosoma infectious disease DOID:10113|ICD10:B56|UMLS:C0041227|SCTID:78940002|ICD9:086|ICD10:B57.2|ICD9:086.9|MESH:D014352 owl:Class MONDO:0011760 biolink:NamedThing Scheie syndrome Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. tmpaxzxjjyw_mondo_relaxed.owl mucopolysaccharidosis type V, formerly|MPS I S|MPSIS|MPS1S|MPS V|MPS1-S|MPS5, formerly|mucopolysaccharidosis type IS|mucopolysaccharidosis Is|Scheie syndrome|MPS V, formerly|mucopolysaccharidosis type 1S|mucopolysaccharidosis type V NCIT:C61265|Orphanet:93474|ICD10:E76.0|OMIM:607016|UMLS:C0026708|GARD:0012561|Orphanet:579|DOID:0060222 https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome owl:Class NCBITaxon:52283 biolink:NamedThing Sarcoptes scabiei tmpaxzxjjyw_mondo_relaxed.owl Sarcoptes scabiei var. suis|Sarcoptes scabiei var. wombati|Sarcoptes scabiei var. wallaby|Sarcoptes scabiei var. chimp|Sarcoptes scabiei type suis|Sarcoptes scabiei var. hominis|Sarcoptes scabiei var. canis|Sarcoptes scabiei type hominis|Sarcoptes scabiei var. nyctereutis|Sarcoptes scabiei type chimp|Sarcoptes scabiei type canis|Sarcoptes scabiei type wallaby|Sarcoptes scabiei type wombati GC_ID:1 NCBITaxon:268761|NCBITaxon:197185|NCBITaxon:268762|NCBITaxon:337908|NCBITaxon:198574|NCBITaxon:268763 ncbi_taxonomy owl:Class NCBITaxon:52282 biolink:NamedThing Sarcoptes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002199 biolink:NamedThing benign mixed tumor of the vulva A benign neoplasm that arises from the vulva and is characterized by the presence of epithelial cells forming nests and tubules in a fibrotic stroma. It may recur locally and complete excision is recommended. tmpaxzxjjyw_mondo_relaxed.owl benign mixed tumor of the vulva|chondroid syringoma of the vulva DOID:2078|UMLS:C1511091|NCIT:C40302 owl:Class MONDO:0003716 biolink:NamedThing renal pelvis papillary urothelial carcinoma A papillary transitional cell carcinoma that arises from the renal pelvis. tmpaxzxjjyw_mondo_relaxed.owl papillary carcinoma of renal pelvis|renal pelvis papillary urothelial carcinoma|renal pelvis papillary carcinoma|kidney pelvis papillary carcinoma|papillary carcinoma of the renal pelvis|papillary carcinoma of kidney pelvis|papillary carcinoma of the kidney pelvis UMLS:C1377909|DOID:5973|NCIT:C6148 owl:Class MONDO:0006350 biolink:NamedThing papillary transitional cell carcinoma A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis. tmpaxzxjjyw_mondo_relaxed.owl papillary transitional carcinoma|papillary transitional cell carcinoma (morphologic abnormality) DOID:4012|ICDO:8130/3|EFO:1000450|UMLS:C0334274|NCIT:C4122 owl:Class HGNC:2705 biolink:NamedThing DCN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014660 biolink:NamedThing microcephaly 15, primary, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl MCPH15|microcephaly 15, primary, autosomal recessive UMLS:C4225310|DOID:0070277|OMIM:616486|Orphanet:2512 owl:Class HGNC:31670 biolink:NamedThing ENO4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6125 biolink:NamedThing IRS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005392 biolink:NamedThing scoliosis A congenital or acquired spinal deformity characterized by lateral curvature of the spine. tmpaxzxjjyw_mondo_relaxed.owl ICD10:M41.9|MESH:D012600|ICD10:M41|NCIT:C78603|DOID:0060249|HP:0002650|ICD9:737.43|SCTID:298382003|EFO:0004273 owl:Class MONDO:0023119 biolink:NamedThing familial myelofibrosis tmpaxzxjjyw_mondo_relaxed.owl GARD:0008516|UMLS:C2931351|MESH:C536848 https://rarediseases.info.nih.gov/diseases/8516/familial-myelofibrosis owl:Class MONDO:0009174 biolink:NamedThing protein-losing enteropathy Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine. tmpaxzxjjyw_mondo_relaxed.owl complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy|enteropathy, PROTEIN-losing|enteropathy, exudative|protein-losing enteropathy|CHAPLE|complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy|exudative enteropathy|protein-losing enteropathy (disease) protein-losing enteropathy (disease) MESH:D011504|DOID:10611|Orphanet:566175|SCTID:22542007|ICD9:579.8|OMIM:226300|HP:0002243|UMLS:C0033680 owl:Class MONDO:0017304 biolink:NamedThing ocular albinism Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. tmpaxzxjjyw_mondo_relaxed.owl ocular albinism (disease)|XLOA|ocular albinism ocular albinism (disease) DOID:0050633|ICD10:E70.3|SCTID:26399002|ICD9:270.2|HP:0001107|Orphanet:284804|MedDRA:10065276|MESH:D016117 owl:Class MONDO:0018134 biolink:NamedThing disorder of melanin metabolism tmpaxzxjjyw_mondo_relaxed.owl Orphanet:352728|UMLS:CN227269 owl:Class MONDO:0011411 biolink:NamedThing Chudley-McCullough syndrome tmpaxzxjjyw_mondo_relaxed.owl deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts|Chudley-McCullough syndrome|deafness, autosomal recessive 82|deafness, autosomal recessive 82, formerly|CMCS|deafness, bilateral sensorineural, and hydrocephalus due to foramen of Monro obstruction GARD:0000086|MESH:C535459|OMIM:604213|UMLS:C1858695|Orphanet:314597 owl:Class MONDO:0015201 biolink:NamedThing ankyloblepharon filiforme-imperforate anus syndrome An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993. tmpaxzxjjyw_mondo_relaxed.owl Aughton-Hufnagle syndrome|ankyloblepharon filiforme adnatum-imperforate anus syndrome Orphanet:1074|ICD10:Q87.8|UMLS:CN197555 owl:Class MONDO:0009880 biolink:NamedThing short stature-pituitary and cerebellar defects-small sella turcica syndrome Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). tmpaxzxjjyw_mondo_relaxed.owl pituitary hormone deficiency, combined, 4|pituitary hormone deficiency, combined with or without cerebellar defects|CPHD4|short stature, pituitary and cerebellar defects and small sella turcica|short stature, pituitary and cerebellar defects, and small sella turcica|pituitary hormone deficiency, combined 4|pituitary hormone deficiency, combined, type 4|pituitary hormone deficiency, combined, with or without cerebellar defects Orphanet:85442|OMIM:262700|UMLS:C2678408|MESH:C567492|GARD:0010604 owl:Class HGNC:25568 biolink:NamedThing FANCI tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:23905 biolink:NamedThing monoatomic anion tmpaxzxjjyw_mondo_relaxed.owl monoatomic anions owl:Class CHEBI:76413 biolink:NamedThing greenhouse gas A gas in an atmosphere that absorbs and emits radiation within the thermal infrared range, so contributing to the 'greenhouse effect'. tmpaxzxjjyw_mondo_relaxed.owl greenhouse gases owl:Class ENVO:03000015 biolink:NamedThing geographic basin A depression which is part of a planetary crust, is of geographic scale, and is partially or completely enclosed. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013522 biolink:NamedThing dyskeratosis congenita, autosomal dominant 3 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12. tmpaxzxjjyw_mondo_relaxed.owl dyskeratosis congenita, autosomal dominant type 3|DKCA3|dyskeratosis congenita, autosomal dominant 3|autosomal dominant dyskeratosis congenita 3 Orphanet:1775|Orphanet:3322|DOID:0070018|OMIM:613990|UMLS:C3151445 owl:Class MONDO:0018395 biolink:NamedThing male infertility due to sperm motility disorder tmpaxzxjjyw_mondo_relaxed.owl Male infertility due to asthenozoospermia 2022-03-01 ICD10:N46|Orphanet:399813|UMLS:CN227341 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 owl:Class MONDO:0019470 biolink:NamedThing aggressive NK-cell leukemia A rare, highly aggressive, Epstein-Barr virus-associated leukemia, also known as aggressive NK-cell leukemia/lymphoma; it may represent the leukemic counterpart of nasal type extranodal NK/T-cell lymphomas. It affects primarily teenagers and young adults. It is characterized by the systemic proliferation of NK cells in the peripheral blood, bone marrow, liver, and spleen. tmpaxzxjjyw_mondo_relaxed.owl aggressive NK-cell leukemia (morphologic abnormality)|natural killer cell leukemia|aggressive NK-cell lymphoma|NK cell leukemia|leukemia (disease) of natural killer cell|aggressive NK-cell leukemia/lymphoma|natural Killer cell leukemia|NK-cell LGL leukemia|aggressive NK-cell leukemia|natural killer cell leukemia (disease)|large granular lymphocyte leukemia, NK-cell type|aggressive NK cell leukemia|ANKL|NK-cell large granular lymphocyte leukemia|aggressive natural killer cell leukemia|ANKCL|NK-cell leukemia ICD10:C94.7|NCIT:C8647|ICD10:C94.8|DOID:1035|ONCOTREE:ANKL|ICDO:9948/3|UMLS:C1292777|UMLS:C1522378|MedDRA:10028811|GARD:0010493|SCTID:721310007|Orphanet:86873 https://rarediseases.info.nih.gov/diseases/10493/aggressive-nk-cell-leukemia owl:Class UBERON:0001823 biolink:NamedThing nasal cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:77956 biolink:NamedThing L-erythro-sphingosine(1+) A cationic sphingoid resulting from the protonation of the amino group of L-erythro-sphingosine; major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl (2R,3S,4E)-1,3-dihydroxyoctadec-4-en-2-aminium|L-erythro-sphing-4-enine|L-erythro-sphing-4-enine(1+) owl:Class CHEBI:83876 biolink:NamedThing cationic sphingoid An organic cation obtained by protonation of the amino function of any sphingoid tmpaxzxjjyw_mondo_relaxed.owl sphingoid cations|cationic sphingoids|sphingoid cation owl:Class MONDO:0002378 biolink:NamedThing dermoid cyst A mature teratoma characterized by the presence of a cyst which is lined by mature tissue resembling the epidermis and the epidermal appendages. It occurs in the ovary, testis, and extragonadal sites including central nervous system and skin. tmpaxzxjjyw_mondo_relaxed.owl dermoid cyst, benign|teratoma, benign|cystic dermoid choristoma|dermoid choristoma|subcutaneous cystic teratoma|dermoid|benign cystic teratoma|mature cystic teratoma|dermoid cyst|dermoid tumor|dermoid tumour|teratoma, benign (morphologic abnormality) EFO:1000894|NCIT:C9011|MESH:D003884|ICD10:K09.8|UMLS:C2355625|SCTID:441459009|DOID:2658|ICDO:9084/0|UMLS:C0011649|UMLS:C2700593 owl:Class MONDO:0013767 biolink:NamedThing autoimmune lymphoproliferative syndrome type 4 RAS-associated autoimmune leukoproliferative disease (RALD) is a rare genetic disorder characterized by monocytosis, autoimmune cytopenias, lymphoproliferation, hepatosplenomegaly, and hypergammaglobulinemia. tmpaxzxjjyw_mondo_relaxed.owl autoimmune lymphoproliferative syndrome caused by mutation in NRAS|RAS-associated autoimmune leukoproliferative disorder|ALPS type IV|ALPS type 4|autoimmune lymphoproliferative syndrome type IV|ALPS4|RAS-associated autoimmune leukoproliferative disease|RALD|autoimmune lymphoproliferative syndrome, type 4|NRAS autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome type 4 DOID:0110117|OMIM:614470|UMLS:C2674723|SCTID:723508002|Orphanet:268114|ICD10:D72.8 owl:Class GO:0005231 biolink:NamedThing excitatory extracellular ligand-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002919 biolink:NamedThing posterior cranial fossa meningioma A meningioma that affects the posterior cranial fossa. tmpaxzxjjyw_mondo_relaxed.owl meningioma of the posterior cranial fossa|meningioma of posterior cranial fossa|posterior cranial fossa meningioma (disease)|meningioma (disease) of posterior cranial fossa DOID:4211|UMLS:C1335448|NCIT:C6775 owl:Class MONDO:0021845 biolink:NamedThing Aloi Tomasini Isaia syndrome A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization|basal cell nevus, anodontia, abnormal bone mineralization|basal cell nevus anodontia abnormal bone mineralization UMLS:C2931405|MESH:C537049|GARD:0000417|GARD:0000831 https://github.com/monarch-initiative/mondo/issues/3700|https://rarediseases.info.nih.gov/diseases/417/aloi-tomasini-isaia-syndrome owl:Class UBERON:0011159 biolink:NamedThing primary subdivision of cranial skeletal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012455 biolink:NamedThing Kleefstra syndrome A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. tmpaxzxjjyw_mondo_relaxed.owl 9q34.3 microdeletion syndrome|chromosome 9Q34.3 deletion syndrome|Kleefstra syndrome|9q-syndrome|9q34 deletion syndrome|9Q subtelomeric deletion syndrome|chromosome 9q deletion syndrome|9Q- syndrome DOID:0060352|ICD10:Q87.8|OMIMPS:610253|GARD:0008672|OMIM:610253|Orphanet:261494 https://rarediseases.info.nih.gov/diseases/8672/kleefstra-syndrome owl:Class MONDO:0013496 biolink:NamedThing IgA nephropathy, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl IGAN2|IgA nephropathy, susceptibility to, 2 OMIM:613944 owl:Class MONDO:0005342 biolink:NamedThing IgA glomerulonephritis Inflammation of a specific segment of glomeruli within the kidney. tmpaxzxjjyw_mondo_relaxed.owl primary IgA nephropathy|berger's disease|focal glomerulonephritis|IgA nephropathy|segmental glomerulonephritis|IgA glomerulonephritis|berger's IgA or IgG nephropathy MESH:D005922|DOID:2986|OMIMPS:161950|EFO:0004194|UMLS:C0017661|SCTID:68779003|ICD9:583.9|NCIT:C34643|Orphanet:34145|OMIM:161950 owl:Class MONDO:0018343 biolink:NamedThing periodic paralysis with later-onset distal motor neuropathy tmpaxzxjjyw_mondo_relaxed.owl ICD10:G72.3|Orphanet:397750 owl:Class GO:0050879 biolink:NamedThing multicellular organismal movement Any physiological process involved in changing the position of a multicellular organism or an anatomical part of a multicellular organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018681 biolink:NamedThing neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome Orphanet:453499|OMIM:616580|UMLS:CN237747 owl:Class MONDO:0006471 biolink:NamedThing tracheal adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the trachea. It spreads to the submucosal tracheal tissue and to regional lymph nodes. tmpaxzxjjyw_mondo_relaxed.owl tracheal adenoid cystic carcinoma|trachea adenoid cystic carcinoma|adenoid cystic carcinoma of trachea|adenoid cystic carcinoma of the trachea NCIT:C6051|SCTID:254619006|UMLS:C0345945|DOID:4875|EFO:1000598 owl:Class MONDO:0003184 biolink:NamedThing trachea carcinoma A carcinoma that arises from epithelial cells of the trachea. tmpaxzxjjyw_mondo_relaxed.owl tracheal carcinoma|cancer of trachea|cancer of the trachea|carcinoma of the trachea|trachea cancer|carcinoma of trachea|trachea carcinoma EFO:1000599|UMLS:C1744708|NCIT:C9347|DOID:4876 owl:Class MONDO:0002100 biolink:NamedThing cardiovascular cancer A primary or metastatic malignant neoplasm involving the cardiovascular system. tmpaxzxjjyw_mondo_relaxed.owl cancer of cardiovascular system|malignant cardiovascular neoplasm|malignant cardiovascular system neoplasm|malignant neoplasm of cardiovascular system|cardiovascular system cancer|cardiovascular neoplasm|cardiovascular tumors UMLS:C0497243|NCIT:C114940|UMLS:C3898472|DOID:176|NCIT:C4784 owl:Class MONDO:0001918 biolink:NamedThing epiphora due to excess lacrimation tmpaxzxjjyw_mondo_relaxed.owl ICD10:H04.21|ICD9:375.21|SCTID:31788005|DOID:14244|UMLS:C0155233 owl:Class MONDO:0001793 biolink:NamedThing excessive tearing Diseases of the lacrimal apparatus. tmpaxzxjjyw_mondo_relaxed.owl excessive tear production|apparatus diseases, lacrimal|diseases, lacrimal apparatus|watering eye|apparatus disease, lacrimal|epiphora|lacrimal apparatus disease|disease, lacrimal apparatus SCTID:193982009|NCIT:C50552|ICD9:375.2|UMLS:C0152227|ICD10:H04.20|MESH:D007766|ICD10:H04.2|ICD9:375.20|DOID:13757 owl:Class HGNC:9652 biolink:NamedThing PTPN22 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:4000029 biolink:NamedThing exposure to increased soil temperature A exposure event involving the interaction of an exposure receptor to increased amount of temperature of soil. tmpaxzxjjyw_mondo_relaxed.owl exposure to increased amount in temperature of soil owl:Class NCBITaxon:11653 biolink:NamedThing Ovine/caprine lentivirus group tmpaxzxjjyw_mondo_relaxed.owl Ovine/caprine lentiviruses|Ovine/caprine lentivirus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11646 biolink:NamedThing Lentivirus tmpaxzxjjyw_mondo_relaxed.owl Lentivirinae GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002878 biolink:NamedThing uterine corpus adenosarcoma A primary polypoid malignant neoplasm of the uterine corpus characterized by the presence of a sarcomatous mesenchymal component and a benign epithelial component. Patients usually present with abnormal vaginal bleeding. It is considered a low grade malignant neoplasm and may recur following resection. tmpaxzxjjyw_mondo_relaxed.owl uterine body adenosarcoma|adenosarcoma of the uterus|adenosarcoma of body of uterus|uterine adenosarcoma|uterine corpus mullerian adenosarcoma|body of uterus adenosarcoma|adenosarcoma of uterine body|adenosarcoma of the uterine body|adenosarcoma of the uterine corpus|adenosarcoma of the corpus uteri|uterine corpus adenosarcoma|uterine corpus Mullerian adenosarcoma|adenosarcoma of the body of uterus|adenosarcoma of uterine corpus|uterine corpus Müllerian adenosarcoma|Mullerian adenosarcoma of the uterus UMLS:CN201046|DOID:4113|ONCOTREE:UAS|NCIT:C6336|MESH:C538232|Orphanet:213600|UMLS:C1336917|GARD:0009636|ICD10:C54.2 Editor note: check ONCOTREE mapping https://rarediseases.info.nih.gov/diseases/9636/adenosarcoma-of-the-uterus owl:Class MONDO:0002569 biolink:NamedThing gastric dilatation Abnormal distention of the stomach due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of gastric outlet obstruction; ileus; gastroparesis; or denervation. tmpaxzxjjyw_mondo_relaxed.owl stomach dilatation MESH:D013271|UMLS:C0038353|DOID:3229 owl:Class MONDO:0019713 biolink:NamedThing non-syndromic limb reduction defect tmpaxzxjjyw_mondo_relaxed.owl isolated limb reduction defect|non-syndromic limb hypoplasia|nonsyndromic limb reduction defect ICD10:Q72.8|ICD10:Q72.4|ICD10:Q71.9|ICD10:Q71.1|ICD10:Q72.1|ICD10:Q72.7|ICD10:Q71.6|ICD10:Q72.2|ICD10:Q71.8|ICD10:Q72.6|ICD10:Q71.3|ICD10:Q72.0|ICD10:Q71.2|ICD10:Q71.0|ICD10:Q73.0|ICD10:Q72.3|ICD10:Q71.4|Orphanet:93457|ICD10:Q72.9|ICD10:Q73.1|ICD10:Q71.5|ICD10:Q73.8|ICD10:Q72.5 owl:Class UBERON:0001324 biolink:NamedThing common fibular nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035652 biolink:NamedThing fibular nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013873 biolink:NamedThing IMAGe syndrome IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, and genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities|intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies|IMAGe syndrome|intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies ICD10:Q87.1|UMLS:C1846009|SCTID:702384004|Orphanet:85173|DOID:0050885|ICD9:759.89|GARD:0012312|NCIT:C130988|OMIM:614732 https://rarediseases.info.nih.gov/diseases/12312/image-syndrome owl:Class MONDO:0002968 biolink:NamedThing lymphocele A cystic lesion containing lymph. It usually results from injury, gynecologic surgery, or urologic surgery. tmpaxzxjjyw_mondo_relaxed.owl lymph cyst UMLS:C0024248|DOID:4347|ICD9:457.8|NCIT:C78442|SCTID:234110002|MESH:D008210 owl:Class MONDO:0006966 biolink:NamedThing secondary Parkinson disease A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication. tmpaxzxjjyw_mondo_relaxed.owl symptomatic parkinsonism|secondary parkinsonism (disorder) [ambiguous]|disorder presenting primarily with parkinsonism|secondary Parkinsonism|secondary parkinsonism, unspecified DOID:13548|SCTID:265377002|ICD9:332.1|EFO:1001175|NCIT:C34899|ICD10:G21.9|UMLS:C0030569|ICD10:G21|MESH:D010302 owl:Class MONDO:0008184 biolink:NamedThing pancreas, dorsal, agenesis of tmpaxzxjjyw_mondo_relaxed.owl agenesis of the dorsal pancreas|pancreas agenesis, dorsal|partial agenesis of the dorsal pancreas|congenital short pancreas|pancreas, dorsal, agenesis of|complete agenesis of the dorsal pancreas MESH:C538109|UMLS:C1868659|GARD:0004203|OMIM:167755|Orphanet:2805 owl:Class MONDO:0009446 biolink:NamedThing ichthyosis-intellectual disability-dwarfism-renal impairment syndrome Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl ichthyosis, mental retardation, dwarfism and renal impairment|ichthyosis, intellectual disability, dwarfism, and renal impairment|ichthyosis intellectual deficit dwarfism renal impairment|ichthyosis, mental retardation, dwarfism, and renal impairment|ichthyosis, intellectual disability, dwarfism and renal impairment|Passwell-Goodman-Siprkowski syndrome OMIM:242530|Orphanet:2278|GARD:0004641|UMLS:C1855787|MESH:C536274 owl:Class MONDO:0004557 biolink:NamedThing congenital fibrosarcoma A fibrosarcoma that occurs in infants. It shares identical morphologic features with adult fibrosarcoma but carries the t(12;15)(p13;q25) translocation that results in ETV6-NTRK3 gene fusion. It usually affects the superficial and deep soft tissues of the extremities. The prognosis is generally much more favorable than for adult fibrosarcoma, and it rarely metastasizes. tmpaxzxjjyw_mondo_relaxed.owl infantile fibrosarcoma (congenital fibrosarcoma)|infantile fibrosarcoma|infantile fibrosarcoma (morphologic abnormality)|congenital fibrosarcoma|IFS DOID:8418|ONCOTREE:IFS|ICD9:171.9|NCIT:C4244|SCTID:403996004|UMLS:C0334459|ICDO:8814/3 owl:Class UBERON:0014610 biolink:NamedThing thoracic spinal cord ventral horn tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002257 biolink:NamedThing ventral horn of spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011902 biolink:NamedThing Charcot-Marie-Tooth disease type 1F A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2).. tmpaxzxjjyw_mondo_relaxed.owl Charcot Marie Tooth disease type 1F|CMT1F|Charcot-Marie-Tooth disease, demyelinating, type 1F|Charcot-Marie-Tooth neuropathy, type 1F|Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL|Charcot-Marie-Tooth neuropathy type 1F|CMT 1F|NEFL Charcot-Marie-Tooth disease type 1 Orphanet:101085|OMIM:607734|SCTID:719980006|DOID:0110149|UMLS:C1843164|MESH:C537987|GARD:0009191|ICD10:G60.0 https://rarediseases.info.nih.gov/diseases/9191/charcot-marie-tooth-disease-type-1f owl:Class MONDO:0017345 biolink:NamedThing Epstein-Barr virus-associated mesenchymal tumor tmpaxzxjjyw_mondo_relaxed.owl EBV-associated mesenchymal tumor Orphanet:289656|UMLS:CN203006 owl:Class MONDO:0017342 biolink:NamedThing Epstein-Barr virus-related tumor tmpaxzxjjyw_mondo_relaxed.owl EBV-related tumor UMLS:CN203004|Orphanet:289638 owl:Class MONDO:0008034 biolink:NamedThing muscular dystrophy, pseudohypertrophic, with Internalized capillaries tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, pseudohypertrophic, with Internalized capillaries UMLS:C1834652|Orphanet:98895|MESH:C563554|OMIM:159050 owl:Class HGNC:11743 biolink:NamedThing TFAP2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008046 biolink:NamedThing autosomal dominant myoglobinuria Autosomal dominant myoglobinuria is a rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997. tmpaxzxjjyw_mondo_relaxed.owl myoglobinuria, autosomal dominant UMLS:C1834567|OMIM:160010|SCTID:725903003|Orphanet:99846|MESH:C563546|ICD10:R82.1 owl:Class GO:0071971 biolink:NamedThing extracellular exosome assembly The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. tmpaxzxjjyw_mondo_relaxed.owl extracellular vesicular exosome assembly owl:Class GO:0016050 biolink:NamedThing vesicle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. tmpaxzxjjyw_mondo_relaxed.owl vesicle organization and biogenesis|vesicle organisation owl:Class MONDO:0011658 biolink:NamedThing autosomal recessive early-onset Parkinson disease 7 Any Parkinson disease in which the cause of the disease is a mutation in the PARK7 gene. tmpaxzxjjyw_mondo_relaxed.owl PARK7 Parkinson disease|PARK7|autosomal recessive early-onset Parkinson's disease 7|Parkinson disease caused by mutation in PARK7|autosomal recessive early-onset Parkinson disease 7|autosomal recessive early-onset Parkinson disease type 7|Parkinson disease 7, autosomal recessive early-onset UMLS:C1853445|DOID:0060370|Orphanet:2828|MESH:C565238|OMIM:606324 owl:Class GO:0006012 biolink:NamedThing galactose metabolic process The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. tmpaxzxjjyw_mondo_relaxed.owl galactose metabolism owl:Class PATO:0001655 biolink:NamedThing osmolarity A concentration quality inhering in a bearer by virtue of the bearer's amount of osmoles of solute per liter of solution. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007871 biolink:NamedThing familial congenital nasolacrimal duct obstruction tmpaxzxjjyw_mondo_relaxed.owl nasolacrimal duct obstruction|lacrimal duct defect|LCDD|lacrimal puncta, absence of Orphanet:141083|ICD10:Q10.5|Orphanet:451612|MESH:C566703|OMIM:149700 owl:Class MONDO:0030919 biolink:NamedThing intellectual disability, autosomal dominant 53 tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant mental retardation 53|intellectual disability, autosomal dominant 53|mental retardation, autosomal dominant 53|MRD53|autosomal dominant intellectual disability 53 DOID:0080228|Orphanet:178469|OMIM:617798|EFO:0009165 owl:Class HGNC:11506 biolink:NamedThing SYP tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001636 biolink:NamedThing posterior cerebral artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007137 biolink:NamedThing isolated congenital anosmia This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome. tmpaxzxjjyw_mondo_relaxed.owl anosmia, isolated congenital|ANIC|congenital anosmia|anosmia, congenital ICD10:Q07.8|OMIM:107200|GARD:0009486|Orphanet:88620|SCTID:230502003|MESH:C535983 https://github.com/monarch-initiative/mondo/issues/3834 owl:Class MONDO:0010528 biolink:NamedThing anosmia Loss of or impaired ability to smell. This may be caused by olfactory nerve diseases; paranasal sinus diseases; viral respiratory tract infections; craniocerebral trauma; smoking; and other conditions. tmpaxzxjjyw_mondo_relaxed.owl anosmia (disease)|anosmia anosmia (disease) UMLS:C0003126|MESH:D000857|OMIM:301700|SCTID:44169009|HP:0000458 https://github.com/monarch-initiative/mondo/issues/3834 owl:Class MONDO:0004346 biolink:NamedThing signet ring cell intrahepatic cholangiocarcinoma An intrahepatic cholangiocarcinoma characterized by the presence of signet ring adenocarcinoma cells. tmpaxzxjjyw_mondo_relaxed.owl signet Ring cell intrahepatic cholangiocarcinoma DOID:7733|NCIT:C41619|UMLS:C1519321 owl:Class MONDO:0002664 biolink:NamedThing extrahepatic bile duct signet ring cell carcinoma An adenocarcinoma that arises from the extrahepatic bile ducts. It is characterized by the presence of signet ring malignant epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl signet Ring cell carcinoma of bile duct|bile duct signet ring cell carcinoma|signet Ring cell bile duct carcinoma|bile duct signet Ring cell carcinoma|extrahepatic bile duct signet Ring cell carcinoma|signet Ring cell carcinoma of the bile duct NCIT:C5776|DOID:3494|UMLS:C0861859 owl:Class UBERON:0009213 biolink:NamedThing pharyngeal membrane of 1st arch tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009210 biolink:NamedThing pharyngeal membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008594 biolink:NamedThing familial multiple discoid fibromas A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominently located on the face, ears, neck and trunk, not associated with systemic organ involvement, associated malignancies or FLCN gene locus mutation. tmpaxzxjjyw_mondo_relaxed.owl small benign fibrovascular tumor of the dermal part of the hair disk|familial multiple trichodiscomas|FMDF|hereditary multiple trichodiscomas|discoid fibromas, familial multiple|trichodiscomas, familial multiple Orphanet:538756|GARD:0008479|UMLS:C1860850|OMIM:190340|MESH:C536847 owl:Class MONDO:0023015 biolink:NamedThing duodenal atresia tetralogy of fallot tmpaxzxjjyw_mondo_relaxed.owl GARD:0001919 https://rarediseases.info.nih.gov/diseases/1919/duodenal-atresia-tetralogy-of-fallot owl:Class GO:1904774 biolink:NamedThing negative regulation of ubiquinone biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of ubiquinone biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl inhibition of coenzyme Q6 biosynthesis|down-regulation of coenzyme Q9 biosynthetic process|down regulation of coenzyme Q6 biosynthetic process|down regulation of coenzyme Q8 biosynthesis|inhibition of coenzyme Q8 biosynthesis|down regulation of ubiquinone biosynthetic process|inhibition of ubiquinone anabolism|negative regulation of coenzyme Q9 biosynthesis|down regulation of ubiquinone formation|inhibition of coenzyme Q8 biosynthetic process|inhibition of coenzyme Q6 biosynthetic process|negative regulation of coenzyme Q10 biosynthesis|down-regulation of ubiquinone anabolism|down-regulation of ubiquinone formation|negative regulation of coenzyme Q8 biosynthetic process|down-regulation of coenzyme Q8 biosynthetic process|down-regulation of coenzyme Q biosynthetic process|negative regulation of coenzyme Q8 biosynthesis|negative regulation of coenzyme Q9 biosynthetic process|down regulation of coenzyme Q biosynthesis|negative regulation of coenzyme Q10 biosynthetic process|inhibition of coenzyme Q9 biosynthetic process|down-regulation of coenzyme Q10 biosynthetic process|down regulation of ubiquinone biosynthesis|downregulation of coenzyme Q biosynthesis|negative regulation of coenzyme Q biosynthesis|downregulation of ubiquinone synthesis|down regulation of coenzyme Q9 biosynthetic process|downregulation of coenzyme Q6 biosynthetic process|inhibition of coenzyme Q biosynthetic process|negative regulation of coenzyme Q biosynthetic process|inhibition of coenzyme Q10 biosynthesis|downregulation of coenzyme Q9 biosynthetic process|inhibition of coenzyme Q9 biosynthesis|down-regulation of coenzyme Q6 biosynthetic process|inhibition of ubiquinone synthesis|downregulation of coenzyme Q8 biosynthetic process|down-regulation of ubiquinone biosynthesis|downregulation of ubiquinone biosynthetic process|negative regulation of ubiquinone synthesis|down regulation of coenzyme Q10 biosynthesis|negative regulation of coenzyme Q6 biosynthetic process|downregulation of ubiquinone formation|down regulation of coenzyme Q8 biosynthetic process|down regulation of ubiquinone synthesis|down regulation of ubiquinone anabolism|down-regulation of coenzyme Q8 biosynthesis|down-regulation of ubiquinone synthesis|inhibition of ubiquinone biosynthesis|downregulation of coenzyme Q biosynthetic process|inhibition of ubiquinone formation|inhibition of ubiquinone biosynthetic process|downregulation of coenzyme Q9 biosynthesis|downregulation of coenzyme Q10 biosynthetic process|downregulation of coenzyme Q10 biosynthesis|down-regulation of coenzyme Q9 biosynthesis|down regulation of coenzyme Q6 biosynthesis|downregulation of coenzyme Q8 biosynthesis|down-regulation of coenzyme Q6 biosynthesis|down regulation of coenzyme Q10 biosynthetic process|down-regulation of coenzyme Q10 biosynthesis|downregulation of ubiquinone anabolism|inhibition of coenzyme Q10 biosynthetic process|down regulation of coenzyme Q biosynthetic process|negative regulation of ubiquinone biosynthesis|negative regulation of coenzyme Q6 biosynthesis|negative regulation of ubiquinone anabolism|downregulation of coenzyme Q6 biosynthesis|downregulation of ubiquinone biosynthesis|down-regulation of ubiquinone biosynthetic process|inhibition of coenzyme Q biosynthesis|down-regulation of coenzyme Q biosynthesis|down regulation of coenzyme Q9 biosynthesis|negative regulation of ubiquinone formation owl:Class GO:0031327 biolink:NamedThing negative regulation of cellular biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cellular formation|negative regulation of cellular biosynthesis|negative regulation of cellular synthesis|down regulation of cellular biosynthetic process|down-regulation of cellular biosynthetic process|inhibition of cellular biosynthetic process|downregulation of cellular biosynthetic process|negative regulation of cellular anabolism owl:Class GO:2001025 biolink:NamedThing positive regulation of response to drug Any process that activates or increases the frequency, rate or extent of response to drug. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of drug susceptibility/resistance|positive regulation of drug resistance owl:Class GO:2001023 biolink:NamedThing regulation of response to drug Any process that modulates the frequency, rate or extent of response to drug. tmpaxzxjjyw_mondo_relaxed.owl regulation of drug susceptibility/resistance|regulation of drug resistance owl:Class GO:0060973 biolink:NamedThing cell migration involved in heart development The orderly movement of a cell from one site to another that will contribute to the progression of the heart over time, from its initial formation, to the mature organ. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016477 biolink:NamedThing cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:4564 biolink:NamedThing Triticum tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1648030 biolink:NamedThing Triticinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:26666 biolink:NamedThing short-chain fatty acid An aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid. tmpaxzxjjyw_mondo_relaxed.owl SCFAs|short-chain fatty acids|SCFA owl:Class MONDO:0011584 biolink:NamedThing Fanconi anemia complementation group D1 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML. tmpaxzxjjyw_mondo_relaxed.owl FANCD1|Fanconi anemia, complementation group D1|Fanconi anemia complementation group D1|FAD1|Fad1|inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations DOID:0111089|OMIM:605724|SCTID:766707003|UMLS:C1838457|NCIT:C125705|Orphanet:319462|MESH:C563980 owl:Class MONDO:0044689 biolink:NamedThing recurrent idiopathic neuroretinitis tmpaxzxjjyw_mondo_relaxed.owl RINR Orphanet:499103 owl:Class MONDO:0044685 biolink:NamedThing autoimmune/inflammatory optic neuropathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:499047 owl:Class NCBITaxon:446 biolink:NamedThing Legionella pneumophila tmpaxzxjjyw_mondo_relaxed.owl PMID:434652|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:445 biolink:NamedThing Legionella tmpaxzxjjyw_mondo_relaxed.owl PMID:434652|PMID:16166707|GC_ID:11|PMID:8573522|PMID:9734026 NCBITaxon:29550 ncbi_taxonomy owl:Class NCIT:C37109 biolink:NamedThing Malignant Epithelial Spindle Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C36849 biolink:NamedThing Neoplastic Epithelial Spindle Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004977 biolink:NamedThing angioimmunoblastic T-cell lymphoma A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes and extranodal sites. The clinical course is typically aggressive. tmpaxzxjjyw_mondo_relaxed.owl angioimmunoblastic lymphadenopathy|angioimmunoblastic lymphadenopathy with Dysproteinemia|angioimmunoblastic T-cell lymphoma|angioimmunoblastic lymphadenopathy type T-cell lymphoma|AITL|AILT|lymphogranulomatosis X|AILD|immunoblastic lymphadenopathy|T-cell lymphoma, AILD type MEDDRA:10002449|ONCOTREE:AITL|DOID:0111147|MESH:D007119|ICD9:202.70|GARD:11973|ICD10:C86.5|UMLS:C0020981|ICDO:9705/3|EFO:0000255|NCIT:C7528|Orphanet:86886|SCTID:413537009|ICDO:9767/1|GARD:0011973|MedDRA:10002449 https://rarediseases.info.nih.gov/diseases/11973/angioimmunoblastic-t-cell-lymphoma owl:Class MONDO:0000430 biolink:NamedThing mature T-cell and NK-cell non-Hodgkin lymphoma This type of lymphoma is not frequently seen in the western hemisphere. Clinically, with the exception of anaplastic large cell lymphoma, mature T- and NK-cell lymphomas are among the most aggressive of all hematopoietic neoplasms. Representative disease entities include mycosis fungoides, angioimmunoblastic T-cell lymphoma, hepatosplenic T-cell lymphoma, and anaplastic large cell lymphoma. tmpaxzxjjyw_mondo_relaxed.owl mature T-cell and natural killer cell lymphoma|NK-T cell lymphoma|mature T-and NK-cell lymphoma|mature T-cell and NK-cell non-Hodgkin lymphoma|mature T-cell and NK-cell non-Hodgkin's lymphoma|peripheral T-cell lymphoma|mature T-cell lymphoma|PTCL|mature T-cell and NK-cell lymphoma|mature T-cell non-Hodgkin's lymphoma GARD:0007368|SCTID:109977009|ICD10:C84.4|DOID:0050743|ICDO:9702/3|MESH:D016411|NCIT:C3468|DOID:0050749 https://rarediseases.info.nih.gov/diseases/7368/peripheral-t-cell-lymphoma owl:Class MONDO:0005152 biolink:NamedThing hypopituitarism A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. tmpaxzxjjyw_mondo_relaxed.owl pituitary hormone deficiency|pituitary hypofunction|pituitary insufficiency MESH:D007018|Orphanet:95494|OMIM:262700|SCTID:74728003|NCIT:C62591|DOID:9406|GARD:0002917|OMIM:613986|EFO:0001380|OMIM:262600|UMLS:C0020635|OMIM:613038|ICD10:E23.0|OMIM:221750 https://rarediseases.info.nih.gov/diseases/2917/hypopituitarism owl:Class UBERON:0003689 biolink:NamedThing sella turcica tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004337 biolink:NamedThing distal phalanx of manual digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009217 biolink:NamedThing Fanconi-like syndrome A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. tmpaxzxjjyw_mondo_relaxed.owl Fanconi-like syndrome MESH:C536855|UMLS:C0151638|DOID:0090066|SCTID:236469003|OMIM:227850 owl:Class MONDO:0001501 biolink:NamedThing retroperitoneal sarcoma A sarcoma involving a retroperitoneal space. tmpaxzxjjyw_mondo_relaxed.owl retroperitoneal space sarcoma|sarcoma of retroperitoneal space|retroperitoneal sarcoma NCIT:C4832|DOID:12341|UMLS:C0585129|SCTID:307219002 owl:Class MONDO:0011419 biolink:NamedThing camera-Marugo-Cohen syndrome tmpaxzxjjyw_mondo_relaxed.owl camera-Marugo-Cohen syndrome|obesity, intellectual disability, body asymmetry, and muscle weakness|obesity, mental retardation, body asymmetry, and muscle weakness|camera Marugo Cohen syndrome OMIM:604257|GARD:0008413|UMLS:C1858661|MESH:C537964 https://rarediseases.info.nih.gov/diseases/8413/camera-marugo-cohen-syndrome owl:Class GO:0034440 biolink:NamedThing lipid oxidation The removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030258 biolink:NamedThing lipid modification The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004426 biolink:NamedThing frontal convexity meningioma A meningioma that affects the frontal sulcus. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333643|DOID:8000|NCIT:C5292 owl:Class MONDO:0003774 biolink:NamedThing cerebral convexity meningioma A meningioma that affects the cerebral sulcus. tmpaxzxjjyw_mondo_relaxed.owl cerebral hemispheric convexity meningioma MESH:D008579|NCIT:C4959|DOID:6114|UMLS:C0751303 owl:Class MONDO:0016452 biolink:NamedThing idiopathic hypersomnia without long sleep time Idiopathic hypersomnia without long sleep time is a sleep disorder characterized almost entirely by constant excessive daytime drowsiness lasting more than 3 months, with involuntary more or less restorative daytime naps. Night rest is of normal length or slightly prolonged but is less than 10 hours in duration, with often normal awakening. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G47.12|ICD10:F51.1|SCTID:442292004|Orphanet:228318|ICD9:327.12|UMLS:C1561855 owl:Class MONDO:0018044 biolink:NamedThing idiopathic hypersomnia Idiopathic hypersomnia is a sleep disorder classified in two forms: idiopathic hypersomnia with long sleep time and idiopathic hypersomnia without long sleep time. tmpaxzxjjyw_mondo_relaxed.owl primary hypersomnia|idiopathic hypersomnolence NCIT:C116343|UMLS:C0751757|GARD:0008737|SCTID:3731000119107|ICD10:F51.1|Orphanet:33208|MESH:D020177 https://rarediseases.info.nih.gov/diseases/8737/idiopathic-hypersomnia owl:Class HGNC:8031 biolink:NamedThing NTRK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018768 biolink:NamedThing familial cold autoinflammatory syndrome Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. tmpaxzxjjyw_mondo_relaxed.owl FCU|familial cold autoinflammatory syndrome|familial polymorphous cold eruption|familial cold urticaria|FCAS GARD:0009535|OMIMPS:120100|NCIT:C119053|UMLS:CN230757|ICD10:L50.2|DOID:0090061|Orphanet:47045|UMLS:C0343068|OMIM:616115|MedDRA:10064570|OMIM:120100 owl:Class MONDO:0011085 biolink:NamedThing Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported. tmpaxzxjjyw_mondo_relaxed.owl HMSN, Lom type|HMSN Lom type|HMSN4D|Charcot-Marie-Tooth disease, type 4D|NDRG1 Charcot-Marie-Tooth disease type 4|HMSNL|Charcot-Marie-Tooth disease type 4D|Charcot-Marie-Tooth neuropathy, type 4D|hereditary motor and sensory neuropathy, Lom type|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D|Charcot-Marie-Tooth neuropathy type 4D|CMT4D|Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1|NMSL|hereditary motor ABD sensory neuropathy Lom type|neuropathy, hereditary motor and sensory, Lom type|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D|HMSN-Lom Orphanet:99950|UMLS:C1832334|MESH:C535716|SCTID:715798007|ICD10:G60.0|DOID:0110186|GARD:0003973|OMIM:601455 https://rarediseases.info.nih.gov/diseases/3973/charcot-marie-tooth-disease-type-4d owl:Class MONDO:0007838 biolink:NamedThing Jacobsen syndrome Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. tmpaxzxjjyw_mondo_relaxed.owl distal monosomy 11q|distal deletion 11q|Del(11)(qter)|chromosome 11q deletion syndrome|monosomy 11qter|11q terminal deletion disorder|Jacobsen syndrome|Del(11)(q23.3)|partial 11q monosomy syndrome|JBS|telomeric deletion 11q NCIT:C75457|DOID:0111723|ICD10:Q93.5|Orphanet:2308|SCTID:715438008|GARD:0000307|OMIM:147791|UMLS:C0795841 owl:Class MONDO:0016910 biolink:NamedThing partial deletion of the long arm of chromosome 11 A cytogenetic abnormality that refers to the allelic loss of all or part of the long arm of chromosome 11. tmpaxzxjjyw_mondo_relaxed.owl chromosome 11q deletion|partial monosomy of chromosome 11q|monosomy 11q partial|monosomy 11q|partial monosomy 11q|partial deletion of the long arm of chromosome type 11|chromosome 11q partial deletion|11q deletion|11q monosomy|loss of chromosome 11q|partial deletion of chromosome 11q|partial monosomy of the long arm of chromosome 11|deletion 11q|Deletion 11q partial|del(11q) GARD:0001735|NCIT:C37312|GTR:AN0100480|Orphanet:262092|UMLS:CN035778|GTR:AN0100478|ICD10:Q93.5|MESH:C538296|GTR:AN0100479 owl:Class MONDO:0014000 biolink:NamedThing congenital heart defects, multiple types, 2 Any congenital heart malformation in which the cause of the disease is a mutation in the TAB2 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital heart malformation caused by mutation in TAB2|TAB2 congenital heart malformation|congenital heart defects, multiple types, 2|CHTD2 UMLS:C3554279|OMIM:614980 owl:Class HGNC:27365 biolink:NamedThing TECRL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009735 biolink:NamedThing Netherton syndrome Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations. tmpaxzxjjyw_mondo_relaxed.owl NS|neth|erythroderma, ichthyosiform, with hypotrichosis and hyper-IgE|Netherton syndrome|Netherton disease|bamboo hair syndrome|Comel-Netherton syndrome|Comèl-Netherton syndrome MedDRA:10062909|SCTID:54336006|OMIM:256500|NCIT:C84922|DOID:0050474|Orphanet:634|GARD:0007182|ICD10:Q80.8|MESH:D056770|SCTID:312514006 https://rarediseases.info.nih.gov/diseases/7182/netherton-syndrome owl:Class MONDO:0017271 biolink:NamedThing autosomal ichthyosis syndrome with prominent hair abnormalities tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:281222|UMLS:CN202792 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited ichthyosis' MONDO_0015947 owl:Class GO:1903430 biolink:NamedThing negative regulation of cell maturation Any process that stops, prevents or reduces the frequency, rate or extent of cell maturation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of cell maturation|down regulation of functional differentiation|inhibition of functional differentiation|down-regulation of cell maturation|inhibition of cell maturation|downregulation of cell maturation|downregulation of functional differentiation|down-regulation of functional differentiation|negative regulation of functional differentiation owl:Class HGNC:23026 biolink:NamedThing GNPTG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013613 biolink:NamedThing Leber congenital amaurosis 16 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene. tmpaxzxjjyw_mondo_relaxed.owl KCNJ13 Leber congenital amaurosis|Leber congenital amaurosis 16|LCA16|Leber congenital amaurosis type 16|Leber congenital amaurosis caused by mutation in KCNJ13 ICD10:H35.5|OMIM:614186|GARD:0010885|Orphanet:65|UMLS:C3280062|DOID:0110118 https://rarediseases.info.nih.gov/diseases/10885/leber-congenital-amaurosis-16 owl:Class MONDO:0012211 biolink:NamedThing MPDU1-CDG The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. tmpaxzxjjyw_mondo_relaxed.owl CDG syndrome type If|MPDU1-CDG (CDG-If)|congenital disorder of glycosylation type 1f|CDGIf|CDG 1F|carbohydrate deficient glycoprotein syndrome type If|carbohydrate-deficient glycoprotein syndrome type 1F|CDG If|CDG-If|congenital disorder of glycosylation, type If|congenital disorder of glycosylation type If|CDG1F NCIT:C126872|OMIM:609180|UMLS:C1836669|DOID:0080558|SCTID:724096007|GARD:0009832|ICD10:E77.8|Orphanet:79323|MESH:C535744 owl:Class MONDO:0002012 biolink:NamedThing methylmalonic acidemia A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease. tmpaxzxjjyw_mondo_relaxed.owl methylmalonic aciduria, mut type|methylmalonic aciduria|METHYLMALONICACIDURIA due to methylmalonic CoA mutase deficiency|methylmalonic aciduria cblB type|methylmalonic aciduria mut type|METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl A|methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type|methylmalonic aciduria type cblA|methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type|METHYLMALONICACIDURIA, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--Cbl B|methylmalonic aciduria type cblB|methylmalonic acidemia, cblA type|methylmalonic acidemia, cblB type GARD:0007033|ICD10:E71.120|NCIT:C98986|UMLS:C0268583|SCTID:42393006|UMLS:C1855119|ICD9:270.7|DOID:14749 owl:Class MONDO:0006014 biolink:NamedThing vulvovaginal candidiasis Infection of the vulva and vagina with a fungus of the genus CANDIDA. It is a disease associated with HIV infection. tmpaxzxjjyw_mondo_relaxed.owl candidiasis of vulva and vagina|candidal: [vulvovaginitis NOS] or [cervix]|vulvovaginal candidiasis|candidal: cervix|vaginal candidiasis|monilial vulvovaginitis|candidal vulvovaginitis SCTID:72605008|ICD9:112.1|NCIT:C2914|EFO:0007543|UMLS:C0700345|DOID:2272|MESH:D002181|ICD10:B37.3 owl:Class UBERON:0018707 biolink:NamedThing bladder organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004133 biolink:NamedThing salivatory nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:8000018 biolink:NamedThing benign paroxysmal positional vertigo Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed. tmpaxzxjjyw_mondo_relaxed.owl familial vestibulopathy|BPPV|vertigo, benign paroxysmal positional|vertigo, benign recurrent|vestibulopathy, familial|BRV|benign paroxysmal positional nystagmus|benign paroxysmal positional vertigo|familial benign recurrent vertigo GARD:0005915|SCTID:111541001|ICD9:386.11|UMLS:C0155502|DOID:13941|OMIM:193007 owl:Class MONDO:0004900 biolink:NamedThing peripheral vertigo tmpaxzxjjyw_mondo_relaxed.owl ICD9:386.10|DOID:9847|ICD10:H81.39|SCTID:50438001|ICD9:386.19|ICD10:H81.3|ICD10:H81.399|UMLS:C0155501|ICD9:386.1 owl:Class NCBITaxon:11308 biolink:NamedThing Orthomyxoviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0016535 biolink:NamedThing white matter of occipital lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016032 biolink:NamedThing femoral agenesis/hypoplasia Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur. tmpaxzxjjyw_mondo_relaxed.owl congenital short femur|femoral intercalary meromelia SCTID:93255008|ICD9:755.34|GARD:0001503|Orphanet:1987|ICD10:Q72.4 owl:Class MONDO:0044014 biolink:NamedThing postpartum thyroiditis A transient autoimmune Inflammatory disorder of thyroid gland that occurs postpartum due to any partum problem. It is characterized by the presence of high titers of autoantibodies against thyroid peroxidase and thyroglobulin. Clinical signs include the triphasic thyroid hormone pattern: beginning with thyrotoxicosis, followed with hypothyroidism, then return to euthyroid state by 1 year postpartum tmpaxzxjjyw_mondo_relaxed.owl thyroiditis, postpartum|postpartum thyroiditis|thyroiditides, post-partum|thyroiditis, post-partum|post-partum thyroiditides|postpartum thyroiditides|post-partum thyroiditis|thyroiditides, postpartum|post partum thyroiditis UMLS:C0271815|SCTID:52772002|MESH:D050032|NCIT:C114389 owl:Class MONDO:0011093 biolink:NamedThing mucopolysaccharidosis type 9 An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency. tmpaxzxjjyw_mondo_relaxed.owl mucopolysaccharidosis IX|hyaluronidase deficiency|MPSIX|MPS9|mucopolysaccharidosis type IX|MPS 9|mucopolysaccharidosis, type 9|mucopolysaccharidosis, type IX|mucopolysaccharidosis type 9 UMLS:C1291490|Orphanet:67041|ICD9:277.6|SCTID:124473006|MESH:C563209|NCIT:C129073|ICD10:E76.2|OMIM:601492|DOID:0050809 owl:Class CHEBI:62761 biolink:NamedThing tyrosine derivative An amino acid derivative resulting from reaction of tyrosine at the amino group or the carboxy group, any substitution of phenyl hydrogens, or from the replacement of any hydrogen of tyrosine by a heteroatom. The definition normally excludes peptides containing tyrosine residues. tmpaxzxjjyw_mondo_relaxed.owl tyrosine derivatives owl:Class MONDO:0004978 biolink:NamedThing aortic stenosis In the same amount or manner; to the same degree; in the role, function, or capacity of. tmpaxzxjjyw_mondo_relaxed.owl rheumatic aortic valve stenosis|aortic valve stenosis|aortic stenosis|rheumatic aortic stenosis|AS ICD10:Q23.0|NCIT:C64938|ICD9:746.3|OMIM:109730|DOID:1712|NCIT:C50462|ICD9:395.0|ICD10:I06.0|OMIM:614823|Orphanet:402075|UMLS:C0155567|EFO:0000266 owl:Class MONDO:0001257 biolink:NamedThing retinal microaneurysm tmpaxzxjjyw_mondo_relaxed.owl ICD9:362.14|DOID:11295|UMLS:C0154834|SCTID:34037000 Will be obsoleted in favor of HP class, see https://github.com/obophenotype/human-phenotype-ontology/issues/4265 owl:Class MONDO:0014594 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 67 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant type 67|autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2|deafness, autosomal dominant 67|autosomal dominant nonsyndromic deafness 67|autosomal dominant deafness 67|autosomal dominant nonsyndromic deafness type 67|DFNA67|OSBPL2 autosomal dominant nonsyndromic deafness UMLS:C4084712|ICD10:H90.3|OMIM:616340|DOID:0110588 owl:Class HP:0008055 biolink:NamedThing Aplasia/Hypoplasia affecting the uvea Absence or underdevelopment of the uvea, the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. tmpaxzxjjyw_mondo_relaxed.owl Absent/underdeveloped uvea UMLS:C4024746 peter 2008-04-02T03:24:00Z human_phenotype owl:Class MONDO:0002759 biolink:NamedThing bladder verrucous carcinoma A verrucous carcinoma that involves the urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl urinary bladder verrucous carcinoma|bladder verrucous squamous cell carcinoma|bladder verrucous carcinoma UMLS:C1511208|NCIT:C39832|DOID:3741 owl:Class MONDO:0044743 biolink:NamedThing major salivary gland cancer A primary or metastatic malignant neoplasm affecting the major salivary glands. Representative examples include carcinoma, lymphoma, and sarcoma. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the Major salivary gland|malignant neoplasm of major salivary gland|malignant tumor of major salivary gland|malignant major salivary gland tumor|malignant neoplasm of major salivary glands|malignant tumor of the major salivary gland|malignant neoplasm of Major salivary gland|malignant major salivary gland neoplasm|cancer of major salivary gland UMLS:C0496763|SCTID:363378008|NCIT:C4762|DOID:8850 owl:Class MONDO:0015440 biolink:NamedThing ring chromosome 6 Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported. tmpaxzxjjyw_mondo_relaxed.owl chromosome 6 ring|Ring chromosome type 6|Ring 6|Ring chromosome 6 syndrome|rose cluster 6|R6 GARD:0006095|SCTID:765488003|MESH:C537763|NCIT:C121985|ICD10:Q93.2|Orphanet:1448 https://rarediseases.info.nih.gov/diseases/6095/ring-chromosome-6 owl:Class GO:0009260 biolink:NamedThing ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpaxzxjjyw_mondo_relaxed.owl ribonucleotide synthesis|ribonucleotide formation|ribonucleotide anabolism|ribonucleotide biosynthesis owl:Class FOODON:03400217 biolink:NamedThing meat, poultry, seafood or related product (us cfr) Products of the flesh of animals. [FDA CFSAN 1995] tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0217 http://langual.org owl:Class FOODON:03401270 biolink:NamedThing U.S. code of federal regulations, title 21 food product type Food and Drugs, title 21, Code of Federal Regulations. Original food classification in LanguaL. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A1270 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org https://www.ecfr.gov/cgi-bin/text-idx?SID=87f720ce0d0b6c4548f4bbfd1f8e4c3d&mc=true&tpl=/ecfrbrowse/Title21/21chapterI.tpl owl:Class UBERON:0007367 biolink:NamedThing surface of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036215 biolink:NamedThing anatomical surface region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000561 biolink:NamedThing spinocerebellar ataxia type 16 An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP. tmpaxzxjjyw_mondo_relaxed.owl SCAR16 NCIT:C150250|UMLS:CN229296|Orphanet:98770|DOID:0050966 Editor notes: Consider merging into 15/16 owl:Class HGNC:10806 biolink:NamedThing SGCB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011405 biolink:NamedThing poikiloderma with neutropenia A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13. tmpaxzxjjyw_mondo_relaxed.owl PN|poikiloderma with neutropenia Clericuzio type|poikiloderma with neutropenia, Clericuzio type|Clericuzio type poikiloderma with neutropenia|poikiloderma with neutropenia, Clericuzio-type|poikiloderma with neutropenia ICD10:D82.8|GARD:0004085|Orphanet:221046|DOID:0060551|OMIM:604173 owl:Class MONDO:0043133 biolink:NamedThing microcephaly micropenis convulsions tmpaxzxjjyw_mondo_relaxed.owl microcephaly micropenis seizures|microcephaly micropenis convulsions|microcephaly seizures genital hypoplasia UMLS:C2931525|GARD:0003628|MESH:C537540 owl:Class NCBITaxon:13373 biolink:NamedThing Burkholderia mallei tmpaxzxjjyw_mondo_relaxed.owl Pseudomonas mallei|Loefferella mallei|Acinetobacter mallei|Pfeifferella mallei|Actinobacillus mallei|Bacillus mallei|Malleomyces mallei PMID:12734250|PMID:1283774|GC_ID:11|PMID:16558776 ncbi_taxonomy owl:Class NCBITaxon:111527 biolink:NamedThing pseudomallei group tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0002975 biolink:NamedThing malignant breast melanoma A melanoma that arises usually from the breast skin and less often from the breast glandular tissue. Primary breast melanomas are rare. tmpaxzxjjyw_mondo_relaxed.owl malignant melanoma of breast|malignant melanoma of the breast|breast melanoma (disease)|malignant breast melanoma|melanoma (disease) of breast|breast melanoma UMLS:C0346787|NCIT:C8410|SCTID:188050009|DOID:4364 owl:Class MONDO:0000525 biolink:NamedThing cecum villous adenoma A neoplasm that arises from the glandular epithelium of the cecal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. tmpaxzxjjyw_mondo_relaxed.owl villous adenoma of cecum|cecal villous adenoma|villous adenoma of the cecum|caecum villous adenoma|cecum adenoma|caecum adenoma|cecum villous adenoma EFO:1000155|UMLS:C1332869|NCIT:C5520|DOID:0050910 owl:Class HGNC:7710 biolink:NamedThing NDUFS3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:27573 biolink:NamedThing silicon atom tmpaxzxjjyw_mondo_relaxed.owl silicon|silicio|Silicon|Silizium|14Si|silicium|Si owl:Class MONDO:0032658 biolink:NamedThing macrocephaly, acquired, with impaired intellectual development tmpaxzxjjyw_mondo_relaxed.owl Macrocephaly, Acquired, With Mental Retardation|MACID|MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT OMIM:618286 owl:Class MONDO:0008374 biolink:NamedThing retinal cone dystrophy type 1 tmpaxzxjjyw_mondo_relaxed.owl retinal cone dystrophy 1|cone dystrophy, autosomal dominant|retinal cone Degeneration|RCD1|cone dystrophy autosomal dominant MESH:C566719|OMIM:180020|GARD:0003196|Orphanet:1871 owl:Class MONDO:0000455 biolink:NamedThing cone dystrophy An inherited ocular disorder characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. tmpaxzxjjyw_mondo_relaxed.owl stationary cone dystrophy|progressive cone dystrophy|retinal cone dystrophy|cone dystrophy OMIM:602093|GARD:0011897|SCTID:312917007|OMIM:300085|Orphanet:1871|UMLS:C0730290|OMIM:180020|OMIM:613093|DOID:0050795|ICD9:362.75|ICD10:H35.5|OMIM:304030 owl:Class MONDO:0013177 biolink:NamedThing congenital muscular dystrophy due to integrin alpha-7 deficiency Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency|ITGA7 congenital muscular dystrophy|congenital myopathy due to integrin alpha-7 deficiency|muscular dystrophy, congenital, due to ITGA7 deficiency|congenital muscular dystrophy with ITGA7 deficiency|congenital muscular dystrophy caused by mutation in ITGA7|myopathy, congenital, due to integrin Alpha-7 deficiency|congenital muscular dystrophy with integrin alpha-7 deficiency GARD:0012587|MESH:C567709|OMIM:613204|Orphanet:34520|UMLS:C2750786|ICD10:G71.2|DOID:0110639 owl:Class GO:0061036 biolink:NamedThing positive regulation of cartilage development Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016177 biolink:NamedThing systemic inflammatory disease associated with an acquired peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN200929|Orphanet:209007 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inflammatory disease' MONDO_0021166 owl:Class MONDO:0022758 biolink:NamedThing chromosome 22, monosome mosaic tmpaxzxjjyw_mondo_relaxed.owl Mosaic monosome 22|chromosome 22 mosaic monosomy MESH:C536798|UMLS:CN036765 owl:Class GO:0016868 biolink:NamedThing intramolecular transferase activity, phosphotransferases Catalysis of the transfer of a phosphate group from one position to another within a single molecule. tmpaxzxjjyw_mondo_relaxed.owl phosphomutase activity|phosphotransferase activity, with regeneration of donors, apparently catalyzing intramolecular transfers owl:Class GO:0016866 biolink:NamedThing intramolecular transferase activity Catalysis of the transfer of a functional group from one position to another within a single molecule. tmpaxzxjjyw_mondo_relaxed.owl mutase activity|intramolecular transferase activity, transferring other groups owl:Class UBERON:0036290 biolink:NamedThing myocardium of anterior wall of left ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032878 biolink:NamedThing neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia tmpaxzxjjyw_mondo_relaxed.owl NEDBASH|NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA OMIM:618718 owl:Class MONDO:0000889 biolink:NamedThing haemophilus meningitis Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults. tmpaxzxjjyw_mondo_relaxed.owl Haemophilus influenzae bacterial meningitis|Haemophilus influenzae caused bacterial meningitis DOID:0080179|MESH:D008583|SCTID:5900006|SCTID:192643004|MedDRA:10018953|ICD9:320.0|ICD10:G00.0|EFO:1000955 owl:Class MONDO:0021108 biolink:NamedThing meningitis A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. tmpaxzxjjyw_mondo_relaxed.owl meningitis|meningitis (disease)|meninx inflammation|inflammation of meninx meningitis (disease) NCIT:C26828|ICD9:322.9|SCTID:7180009 owl:Class MONDO:0006069 biolink:NamedThing ACTH-producing pituitary gland carcinoma A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces corticotropin. It may be associated with Cushing disease. tmpaxzxjjyw_mondo_relaxed.owl malignant ACTH secreting neoplasm of pituitary|malignant ACTH producing pituitary tumor|malignant ACTH producing neoplasm of the pituitary|malignant ACTH secreting neoplasm of pituitary gland|malignant ACTH secreting tumor of pituitary gland|malignant Corticotropinoma of pituitary|malignant ACTH secreting neoplasm of the pituitary gland|malignant adrenocorticotropin producing tumor of pituitary|malignant adrenocorticotropin secreting pituitary tumor|malignant Corticotropinoma of pituitary gland|malignant ACTH producing pituitary neoplasm|malignant ACTH producing pituitary gland neoplasm|malignant adrenocorticotropin producing neoplasm of the pituitary gland|malignant adrenocorticotropin producing pituitary gland neoplasm|ACTH producing pituitary gland carcinoma|malignant ACTH secreting tumor of pituitary|malignant pituitary Corticotropinoma|malignant adrenocorticotropin producing pituitary tumor|malignant ACTH secreting pituitary gland tumor|malignant ACTH secreting neoplasm of the pituitary|malignant adrenocorticotropin secreting pituitary neoplasm|malignant ACTH producing neoplasm of pituitary gland|malignant ACTH secreting pituitary tumor|malignant adrenocorticotropin producing tumor of pituitary gland|malignant adrenocorticotropin producing pituitary neoplasm|malignant pituitary gland Corticotropinoma|malignant ACTH secreting pituitary neoplasm|malignant adrenocorticotropin producing tumor of the pituitary gland|malignant Corticotropinoma of the pituitary gland|malignant adrenocorticotropin producing neoplasm of pituitary|malignant adrenocorticotropin producing neoplasm of pituitary gland|malignant ACTH producing pituitary gland tumor|malignant ACTH producing tumor of the pituitary gland|malignant adrenocorticotropin secreting pituitary gland tumor|malignant ACTH producing tumor of the pituitary|malignant adrenocorticotropin producing tumor of the pituitary|malignant ACTH secreting tumor of the pituitary|malignant ACTH secreting tumor of the pituitary gland|malignant Corticotropinoma of the pituitary|malignant ACTH producing neoplasm of pituitary|malignant ACTH producing tumor of pituitary|malignant adrenocorticotropin producing pituitary gland tumor|malignant ACTH producing neoplasm of the pituitary gland|malignant adrenocorticotropin producing neoplasm of the pituitary|malignant adrenocorticotropin secreting pituitary gland neoplasm|malignant ACTH producing tumor of pituitary gland|malignant corticotropin secreting pituitary gland neoplasm UMLS:C1334556|NCIT:C5964|DOID:6276|EFO:1000067 owl:Class MONDO:0004024 biolink:NamedThing spinal cord neuroblastoma A neuroblastoma that affects the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl neuroblastoma of the spinal cord|neuroblastoma of spinal cord|spinal cord neuroblastoma NCIT:C5155|DOID:6871|UMLS:C1336046 owl:Class MONDO:0037738 biolink:NamedThing cauda equina cancer A cancer that involves the cauda equina. tmpaxzxjjyw_mondo_relaxed.owl cancer of cauda equina|malignant cauda equina neoplasm|malignant neoplasm of cauda equina SCTID:363477002|UMLS:C0349017 owl:Class MONDO:0022654 biolink:NamedThing cardiomyopathy hypogonadism collagenoma syndrome tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy-hypogonadism-collagenoma syndrome MESH:C535582 owl:Class MONDO:0017570 biolink:NamedThing leukocyte adhesion deficiency Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. tmpaxzxjjyw_mondo_relaxed.owl congenital leukocyte adherence deficiency|LAD OMIM:612840|Orphanet:2968|ICD10:D84.8|OMIM:116920|OMIM:266265|DOID:6612|GARD:0009544|UMLS:C0272187|SCTID:77358003|UMLS:C0398738|NCIT:C27874 owl:Class ENVO:03000111 biolink:NamedThing snow mass A mass of snow. tmpaxzxjjyw_mondo_relaxed.owl snow accumulation|accumulation of snow owl:Class MONDO:0019909 biolink:NamedThing ring chromosome 16 Ring chromosome 16 is characterized bypostnatal growthdeficiency, intellectual disability, microcephaly, broad flat nasal bridge, down-turned mouth, low-set and dysmorphic (abnormally-shaped) ears and speech delay.To date, less than 10 cases have been reported in the medical literature. tmpaxzxjjyw_mondo_relaxed.owl Ring 16|chromosome 16 ring|Ring chromosome 16 syndrome|R16|Ring chromosome type 16 ICD10:Q93.2|GARD:0010855|Orphanet:96178|SCTID:763406004 https://rarediseases.info.nih.gov/diseases/10855/ring-chromosome-16 owl:Class HGNC:3529 biolink:NamedThing F11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013557 biolink:NamedThing Hermansky-Pudlak syndrome 5 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene. tmpaxzxjjyw_mondo_relaxed.owl HPS5|Hermansky-Pudlak syndrome caused by mutation in HPS5|HPS5 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome type 5|Hermansky-Pudlak syndrome 5 UMLS:C3888004|DOID:0060543|OMIM:614074|Orphanet:79430|Orphanet:231512 owl:Class MONDO:0016502 biolink:NamedThing Hermansky-Pudlak syndrome without pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis. tmpaxzxjjyw_mondo_relaxed.owl HPS without pulmonary fibrosis OMIM:614072|UMLS:CN201507|OMIM:614075|OMIM:614074|Orphanet:231512|ICD10:E70.3 owl:Class MONDO:0016414 biolink:NamedThing hypotrichosis-intellectual disability, Lopes type Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Lopes-Marques de Faria syndrome UMLS:CN201347|Orphanet:2266 owl:Class UBERON:0004912 biolink:NamedThing biliary bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007741 biolink:NamedThing congenital hydronephrosis Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy. tmpaxzxjjyw_mondo_relaxed.owl ICD9:753.29|ICD10:Q62.0|NCIT:C102979|UMLS:C0266316|Orphanet:2190|MedDRA:10050975|SCTID:16297002 Editor note: TODO check relationship to OMIM:143400 owl:Class MONDO:0005510 biolink:NamedThing hydronephrosis Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces. It is caused by obstruction of urine flow, nephrolithiasis, or vesicoureteral reflux. Signs and symptoms include flank pain, nausea, vomiting, fever, and dysuria. tmpaxzxjjyw_mondo_relaxed.owl SCTID:43064006|NCIT:C26796|ICD9:591|DOID:11111|ICD10:N13.30|EFO:0005562|MESH:D006869|UMLS:C0020295 owl:Class MONDO:0012111 biolink:NamedThing hypertrophic cardiomyopathy 8 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL3 gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, type 8|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1|MYL3 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 8|hypertrophic cardiomyopathy type 8|hypertrophic cardiomyopathy caused by mutation in MYL3|CMH8|cardiomyopathy hypertrophic mid-left ventricular chamber type 1|hypertrophic cardiomyopathy 8 DOID:0110314|MESH:C563866|UMLS:C1837471|OMIM:608751 owl:Class MONDO:0009281 biolink:NamedThing glutaryl-CoA dehydrogenase deficiency Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder. tmpaxzxjjyw_mondo_relaxed.owl glutaric acidemia type 1|glutaryl-coenzyme A dehydrogenase deficiency|GA1|glutaric aciduria 1|GCDHD|glutaric acidemia type I|glutaryl-CoA dehydrogenase deficiency|glutaric acidemia, type 1|glutaric aciduria type I|glutaric aciduria type 1|Ga 1|glutaric acidemia I|glutaric acidemia 1|glutaric aciduria, type 1 NCIT:C99101|UMLS:C0268595|Orphanet:25|ICD10:E72.3|DOID:0111254|MESH:C536833|SCTID:76175005|GARD:0006522|OMIM:231670 owl:Class MONDO:0007491 biolink:NamedThing dystelephalangy tmpaxzxjjyw_mondo_relaxed.owl congenital bilateral metadiaphyseal acrodysplasia of the little finger|Kirner deformity|dystelephalangy UMLS:C1851955|GARD:0010059|OMIM:128000|MESH:C538000 https://rarediseases.info.nih.gov/diseases/10059/dystelephalangy owl:Class HGNC:3791 biolink:NamedThing FOLR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class IAO:8000002 biolink:NamedThing editors ontology module An ontology module that is intended to be directly edited, typically managed in source control, and typically not intended for direct consumption by end-users. tmpaxzxjjyw_mondo_relaxed.owl source ontology module editors ontology module owl:Class IAO:8000000 biolink:NamedThing ontology module tmpaxzxjjyw_mondo_relaxed.owl ontology file This class and it's subclasses are applied to OWL ontologies. Using an rdf:type triple will result in problems with OWL-DL. I propose that dcterms:type is instead used to connect an ontology URI with a class from this hierarchy. The class hierarchy is not disjoint, so multiple assertions can be made about a single ontology. I have placed this under 'data about an ontology part', but this can be discussed. I think this is OK if 'part' is interpreted reflexively, as an ontology module is the whole ontology rather than part of it. ontology module owl:Class MONDO:0014928 biolink:NamedThing Joubert syndrome 28 Any Joubert syndrome in which the cause of the disease is a mutation in the MKS1 gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome type 28|Joubert syndrome caused by mutation in MKS1|MKS1 Joubert syndrome|Joubert syndrome 28|JBTS28 UMLS:C4310705|DOID:0110997|OMIM:617121 owl:Class MONDO:0002744 biolink:NamedThing fallopian tube mucinous adenocarcinoma An extremely rare adenocarcinoma that arises from the fallopian tube. It is characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin. The cases that have been reported are predominantly in situ mucinous adenocarcinomas. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube mucinous adenocarcinoma UMLS:C1517119|NCIT:C40103|DOID:3704 owl:Class MONDO:0006904 biolink:NamedThing phimosis A condition in which there is constriction in the tip of the foreskin resulting in inability to fully retract the foreskin over the glans penis. Causes include balanoposthitis, balanitis xerotica obliterans, and untreated diabetes. tmpaxzxjjyw_mondo_relaxed.owl tight frenulum|tight foreskin MESH:D010688|EFO:1001104|NCIT:C26852|MedDRA:10034878|ICD10:N47.1|DOID:2712|SCTID:449826002 owl:Class MONDO:0018766 biolink:NamedThing chronic enteropathy associated with SLCO2A1 gene tmpaxzxjjyw_mondo_relaxed.owl CEAS Orphanet:468641 owl:Class HGNC:325 biolink:NamedThing AGPAT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008244 biolink:NamedThing piebaldism Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. tmpaxzxjjyw_mondo_relaxed.owl PBT|piebaldism|piebald trait|partial albinism ICD9:270.2|SCTID:6479008|ICD10:E70.39|Orphanet:2884|DOID:3263|OMIM:172800|GARD:0004344|NCIT:C85009|UMLS:C0080024|ICD10:E70.3|MESH:D016116 https://rarediseases.info.nih.gov/diseases/4344/piebaldism owl:Class MONDO:0018330 biolink:NamedThing mucinous adenocarcinoma of the appendix Mucinous adenocarcinoma of the appendix is a very rare, slow growing, well-differentiated epithelial neoplasm of the appendix characterized by abundant mucin production. Clinically, it presents as acute appendicitis (with abdominal pain, fever, leukocytosis) or as pseudomyxoma peritonei (wide-spread presence of mucin within the peritoneal cavity), however some patients may be completely asymptomatic at the time of diagnosis. In many cases, a second gastrointestinal malignancy is present. tmpaxzxjjyw_mondo_relaxed.owl appendiceal mucinous adenocarcinoma|appendix mucinous adenocarcinoma|vermiform appendix mucinous adenocarcinoma NCIT:C43558|UMLS:C1706832|Orphanet:391723|ONCOTREE:MAAP|ICD10:C18.1 owl:Class MONDO:0006087 biolink:NamedThing appendix adenocarcinoma A carcinoma that arises from glandular epithelial cells of the vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl APAD|vermiform appendix adenocarcinoma|adenocarcinoma of appendix|appendix adenocarcinoma|adenocarcinoma of the appendix|appendiceal adenocarcinoma EFO:1000088|SCTID:413445002|GARD:0010564|ONCOTREE:APAD|UMLS:C0238003|DOID:3608|NCIT:C7718 owl:Class MONDO:0032883 biolink:NamedThing intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES|IDDBCS OMIM:618725 owl:Class NCBITaxon:422676 biolink:NamedThing Aconoidasida tmpaxzxjjyw_mondo_relaxed.owl Hematozoa Vivier 1982 GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5794 biolink:NamedThing Apicomplexa tmpaxzxjjyw_mondo_relaxed.owl apicomplexans GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016942 biolink:NamedThing partial trisomy/tetrasomy of the short arm of chromosome 5 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy/tetrasomy of chromosome 5p|partial trisomy/tetrasomy of the short arm of chromosome type 5|partial duplication/triplication of the short arm of chromosome 5|partial duplication/triplication of chromosome 5p Orphanet:262725 owl:Class MONDO:0010300 biolink:NamedThing intellectual disability, X-linked 53 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked 53|MRX53|mental retardation, X-linked 53 UMLS:C1845889|MESH:C564533|OMIM:300324|Orphanet:777 owl:Class MONDO:0030877 biolink:NamedThing cardioacrofacial dysplasia 2 tmpaxzxjjyw_mondo_relaxed.owl CAFD2|cardioacrofacial dysplasia 2 OMIM:619143 owl:Class MONDO:0031386 biolink:NamedThing cardioacrofacial dysplasia tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:619142 owl:Class HP:0100639 biolink:NamedThing Erectile dysfunction A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. tmpaxzxjjyw_mondo_relaxed.owl Abnormal erection|Erectile abnormalities doelkens 2010-12-29T05:45:28Z human_phenotype owl:Class HP:0040307 biolink:NamedThing Male sexual dysfunction A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity tmpaxzxjjyw_mondo_relaxed.owl human_phenotype owl:Class GO:0006704 biolink:NamedThing glucocorticoid biosynthetic process The chemical reactions and pathways resulting in the formation of glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. tmpaxzxjjyw_mondo_relaxed.owl glucocorticoid anabolism|glucocorticoid synthesis|glucocorticoid formation|glucocorticoid biosynthesis owl:Class HP:0002072 biolink:NamedThing Chorea Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. tmpaxzxjjyw_mondo_relaxed.owl Choreic movements|Choreiform movements|Choreatic disease UMLS:C4020858|UMLS:C0008489|SNOMEDCT_US:271700006|MSH:D002819 HP:0002397 human_phenotype owl:Class HP:0004305 biolink:NamedThing Involuntary movements Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. tmpaxzxjjyw_mondo_relaxed.owl Involuntary movements|Involuntary muscle contractions SNOMEDCT_US:102542000|UMLS:C0235086 peter 2008-02-20T12:18:00Z HP:0007120 human_phenotype owl:Class MONDO:0000155 biolink:NamedThing triglyceride storage disease An acquired metabolic disease that is has its basis in the disruption of sequestering of triglyceride. tmpaxzxjjyw_mondo_relaxed.owl inborn error of sequestering of triglyceride|rare inborn error of sequestering of triglyceride|inborn sequestering of triglyceride disorder See text of OMIM 190430. owl:Class MONDO:0010481 biolink:NamedThing angioedema Swelling involving the deep dermis, subcutaneous, or submucosal tissues, representing localized edema. Angioedema often occurs in the face, lips, tongue, and larynx. tmpaxzxjjyw_mondo_relaxed.owl edema, Quincke's|giant urticaria|Quincke's edema|giant Urticarias|Urticarias, giant|angioedemas|Edemas, angioneurotic|angioneurotic oedema|Quinckes edema|edema, angioneurotic|angioneurotic Edemas|angioneurotic edema|Quincke edema|urticaria, giant ICD9:995.1|DOID:1558|NCIT:C112175|HP:0100665|ICD10:T78.3|CSP:2716-7007|EFO:0005532|SCTID:400075008|SCTID:41291007|MESH:D000799 owl:Class MONDO:0024228 biolink:NamedThing miliaria profunda A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. tmpaxzxjjyw_mondo_relaxed.owl SCTID:47317002|DOID:0070320 owl:Class HGNC:17192 biolink:NamedThing TIRAP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016529 biolink:NamedThing duplication of urethra Duplication of the urethra is a rare congenital genitourinary anomaly, encompassing a wide spectrum of anatomic variants in which the urethra is partially or totally duplicated, which may be asymptomatic or cause symptoms such as incontinence, recurrent urinary infections and difficulty urinating. tmpaxzxjjyw_mondo_relaxed.owl urethral duplication ICD9:753.8|SCTID:69015003|GARD:0001975|Orphanet:237|ICD10:Q64.7 https://rarediseases.info.nih.gov/diseases/1975/duplication-of-urethra owl:Class UBERON:0016570 biolink:NamedThing lamina of gray matter of spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33671 biolink:NamedThing heteropolycyclic compound A polycyclic compound in which at least one of the rings contains at least one non-carbon atom. tmpaxzxjjyw_mondo_relaxed.owl polyheterocyclic compounds|heteropolycyclic compounds owl:Class MONDO:0054588 biolink:NamedThing Noonan syndrome-like disorder with loose anagen hair 2 tmpaxzxjjyw_mondo_relaxed.owl NSLH2|Noonan syndrome-like disorder with loose anagen hair 2 OMIM:617506 owl:Class MONDO:0001786 biolink:NamedThing uterine inflammatory disease tmpaxzxjjyw_mondo_relaxed.owl inflammatory disease of the uterus ICD10:N71.9|ICD9:615.9|SCTID:28783002|UMLS:C0269047|DOID:13736 owl:Class MONDO:0014754 biolink:NamedThing primary coenzyme Q10 deficiency 8 Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene. tmpaxzxjjyw_mondo_relaxed.owl coenzyme Q10 deficiency, primary, 8|primary coenzyme Q10 deficiency 8|COQ10D8|coenzyme Q10 deficiency, primary, type 8|COQ7 coenzyme Q10 deficiency|coenzyme Q10 deficiency caused by mutation in COQ7 DOID:0070245|UMLS:C4225226|OMIM:616733 owl:Class MONDO:0010062 biolink:NamedThing spinocerebellar ataxia-dysmorphism syndrome Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia with dysmorphism UMLS:C1849088|MESH:C564802|OMIM:271270|GARD:0004958|ICD10:G11.8|Orphanet:1185 owl:Class MONDO:0010930 biolink:NamedThing anophthalmia plus syndrome Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia with facial clefting|anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder|anophthalmia-plus syndrome|Leichtman Wood Rohn syndrome|Fryns anophthalmia syndrome|Fryns microphthalmia syndrome OMIM:600776|Orphanet:1104|UMLS:C1833339|ICD10:Q87.8|GARD:0000719|MESH:C537767|SCTID:720496006 https://rarediseases.info.nih.gov/diseases/719/anophthalmia-plus-syndrome owl:Class GO:0070254 biolink:NamedThing mucus secretion The regulated release of mucus by the mucosa. Mucus is a viscous slimy secretion consisting of mucins and various inorganic salts dissolved in water, with suspended epithelial cells and leukocytes. The mucosa, or mucous membrane, is the membrane covered with epithelium that lines the tubular organs of the body. Mucins are carbohydrate-rich glycoproteins that have a lubricating and protective function. tmpaxzxjjyw_mondo_relaxed.owl mucus production owl:Class HP:0012418 biolink:NamedThing Hypoxemia An abnormally low level of blood oxygen. tmpaxzxjjyw_mondo_relaxed.owl Low blood oxygen level|Hypoxia SNOMEDCT_US:389087006|MSH:D000860|UMLS:C0700292 Note that hypoxemia is defined as a condition where arterial oxygen tension is below normal (80-100mmHg). Hypoxia is defined as the failure of oxygenation at the tissue level. Hypoxia is not measured directly by a standard laboratory value. peter 2013-11-10T05:07:07Z human_phenotype owl:Class NCBITaxon:39824 biolink:NamedThing Klebsiella granulomatis tmpaxzxjjyw_mondo_relaxed.owl Calymmatobacterium granulomatis|Encapsulatus inguinalis|Donovania granulomatis PMID:10555350|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:570 biolink:NamedThing Klebsiella tmpaxzxjjyw_mondo_relaxed.owl Donovania|Calymmatobacterium|Hyalococcus PMID:10555350|PMID:11411716|GC_ID:11|PMID:12635932 NCBITaxon:39823 ncbi_taxonomy owl:Class MONDO:0002953 biolink:NamedThing skin infiltrative basal cell carcinoma A variant of basal cell carcinoma presenting as a pale, indurated plaque, usually in the upper trunk or face. Morphologically, it is characterized by the presence of strands, cords, and columns of basaloid cells infiltrating the dermis. Perineural invasion may be present and the basaloid cell infiltrate may extend into deeper tissues. tmpaxzxjjyw_mondo_relaxed.owl skin infiltrating basal cell carcinoma|infiltrative basal cell carcinoma|infiltrating basal cell carcinoma UMLS:C0334257|NCIT:C27539|ICDO:8092/3|DOID:4299 owl:Class MONDO:0005491 biolink:NamedThing Chagas cardiomyopathy A disease of the cardiac muscle developed subsequent to the initial protozoan infection by trypanosoma cruzi. After infection, less than 10% develop acute illness such as myocarditis (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced chagas disease include conduction defects (heart block) and cardiomegaly. tmpaxzxjjyw_mondo_relaxed.owl Trypanosoma cruzi cardiomyopathy|Trypanosoma cruzi caused cardiomyopathy MESH:D002598|EFO:0005529|SCTID:998008|ICD9:086.0 owl:Class MONDO:0012868 biolink:NamedThing thrombophilia due to protein S deficiency, autosomal dominant Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency. tmpaxzxjjyw_mondo_relaxed.owl thrombophilia due to protein S deficiency, autosomal dominant|autosomal dominant hereditary thrombophilia due to congenital protein S deficiency|THPH5|protein S acquired deficiency|hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant OMIM:612336|Orphanet:26349|MedDRA:10068370|Orphanet:743|ICD10:D68.8|MESH:C567077|UMLS:C3278211 Note that ORDO appears to classify as hereditary and acquired. owl:Class GO:0010923 biolink:NamedThing negative regulation of phosphatase activity Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010921 biolink:NamedThing regulation of phosphatase activity Any process that modulates the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0012863 biolink:NamedThing Abnormal male germ cell morphology A structural anomaly of a male reproductive cell. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4022703 hecht 2014-06-09T10:05:33Z human_phenotype owl:Class MONDO:0003420 biolink:NamedThing bile duct cystadenoma An epithelial, usually multiloculated neoplasm arising from the intrahepatic or extrahepatic bile ducts. It occurs predominantly in females. Signs and symptoms include abdominal mass, abdominal pain, and jaundice. Morphologically, the cystic spaces are lined by columnar epithelium and contain mucinous or serous fluid. tmpaxzxjjyw_mondo_relaxed.owl cystadenoma of the bile duct|cystadenoma of bile duct|bile duct cystadenoma (morphologic abnormality)|bile duct mucinous cystic neoplasm|bile duct cystadenoma UMLS:C0334285|ICDO:8161/0|DOID:5384|NCIT:C4129 owl:Class GO:0098916 biolink:NamedThing anterograde trans-synaptic signaling Cell-cell signaling from pre to post-synapse, across the synaptic cleft. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0099537 biolink:NamedThing trans-synaptic signaling Cell-cell signaling in either direction across the synaptic cleft. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:52651 biolink:NamedThing Chabertiidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:27829 biolink:NamedThing Strongyloidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0013122 biolink:NamedThing distal epiphysis of phalanx of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011973 biolink:NamedThing epiphysis of phalanx of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014703 biolink:NamedThing anal membrane ectodermal component tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003866 biolink:NamedThing liver extraskeletal osteosarcoma An osteosarcoma arising from the liver. tmpaxzxjjyw_mondo_relaxed.owl hepatic osteogenic sarcoma|osteosarcoma of liver|liver extraskeletal osteosarcoma|osteogenic sarcoma of the liver|liver osteogenic sarcoma|hepatic osteosarcoma|osteogenic sarcoma of liver|osteosarcoma of the liver|hepatic extraskeletal osteosarcoma|liver osteosarcoma (disease)|liver osteosarcoma DOID:6370|UMLS:C1333974|NCIT:C5833 owl:Class CL:0002275 biolink:NamedThing pancreatic PP cell A PP cell located in the islets of the pancreas. tmpaxzxjjyw_mondo_relaxed.owl pancreatic polypeptide-secreting cell|PP cell of pancreatic islet|PP-cell of pancreatic islet BTO:0000805|FMA:70588 The term PP cell of pancreatic acinus was obsoleted due to a lack of evidence, making PP cell of pancreatic islets synonymous with pancreatic PP cell. tmeehan 2010-09-10T03:30:31Z cell owl:Class HGNC:16644 biolink:NamedThing IFITM5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011055 biolink:NamedThing distal monosomy 10p Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. tmpaxzxjjyw_mondo_relaxed.owl monosomy 10pter|distal monosomy type 10p|DiGeorge syndrome/velocardiofacial syndrome Complex type 2|chromosome 10p deletion|telomeric deletion 10p|deletion 10p|monosomy 10p|10p deletion|10p monosomy|distal 10p deletion|DiGeorge syndrome/velocardiofacial syndrome complex 2|Dgs2|partial monosomy 10p|10p13-p14 Deletion syndrome|DiGeorge syndrome type 2 ICD10:Q93.5|Orphanet:1580|GARD:0001323|UMLS:C1832431|UMLS:C4304502|OMIM:601362|NCIT:C130982|MESH:C563337|SCTID:719686003 owl:Class MONDO:0016892 biolink:NamedThing partial deletion of the short arm of chromosome 10 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of the short arm of chromosome 10|partial monosomy of chromosome 10p|partial deletion of chromosome 10p|partial deletion of the short arm of chromosome type 10 Orphanet:261938|ICD10:Q93.5|UMLS:C0795836 owl:Class GO:0015837 biolink:NamedThing amine transport The directed movement of amines, including polyamines, organic compounds containing one or more amino groups, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl amine/polyamine transport owl:Class MONDO:0012468 biolink:NamedThing rhizomelic dysplasia, scoliosis, and retinitis pigmentosa tmpaxzxjjyw_mondo_relaxed.owl rhizomelic dysplasia, scoliosis, and retinitis pigmentosa MESH:C537610|GARD:0009968|OMIM:610319|UMLS:C1853197 https://rarediseases.info.nih.gov/diseases/9968/rhizomelic-dysplasia-scoliosis-and-retinitis-pigmentosa owl:Class MONDO:0100130 biolink:NamedThing adult acute respiratory distress syndrome A very severe form of acute pulmonary failure secondary to capillary permeability impairment. The symptoms include dyspnea, hypotension and multivisceral failure. The disease is characterized by bilateral pulmonary infiltrates and severe hypoxemia due to increased alveolar-capillary permeability. The severity depends on the degree of alveolar epithelial injury, with a mortality rate of 30-50%. tmpaxzxjjyw_mondo_relaxed.owl adult ARDS|adult acute respiratory distress syndrome|respiratory distress syndrome, adult|adult respiratory distress syndrome, ARDS|adult RDS|adult respiratory distress syndrome|ARDS SCTID:67782005|MESH:D012128|UMLS:C0035222|Orphanet:70578|DOID:11394 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0018434 biolink:NamedThing acute myeloid leukemia with t(9;11)(p22;q23) tmpaxzxjjyw_mondo_relaxed.owl AML with t(9;11)(p22;q23) Orphanet:402017|ICD10:C92.0 owl:Class CL:1000376 biolink:NamedThing Purkinje myocyte of interventricular septum A Purkinje myocyte that is part of the interventricular septum. tmpaxzxjjyw_mondo_relaxed.owl FMA:263182 cell owl:Class MONDO:0014340 biolink:NamedThing atrial fibrillation, familial, 15 Any familial atrial fibrillation in which the cause of the disease is a mutation in the NUP155 gene. tmpaxzxjjyw_mondo_relaxed.owl atrial fibrillation, familial, type 15|ATFB15|NUP155 familial atrial fibrillation|atrial fibrillation, familial, 15|familial atrial fibrillation caused by mutation in NUP155 UMLS:C4014269|OMIM:615770|Orphanet:334 owl:Class MONDO:0024565 biolink:NamedThing ectodermal dysplasia-syndactyly syndrome 1 Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene. tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4|EDSS1|ectodermal dysplasia-syndactyly syndrome 1|NECTIN4 ectodermal dysplasia-syndactyly syndrome Orphanet:247820|OMIM:613573|UMLS:C3150807 owl:Class GO:0043232 biolink:NamedThing intracellular non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. tmpaxzxjjyw_mondo_relaxed.owl intracellular non-membrane-enclosed organelle owl:Class MONDO:0100156 biolink:NamedThing Imerslund-Grasbeck syndrome type 1 An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances. tmpaxzxjjyw_mondo_relaxed.owl Imerslund-Grasbeck syndrome type 1|MGA-1|pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|megaloblastic anemia, 1|megaloblastic anemia, Finnish type|enterocyte cobalamin malabsorption|Mga1|megaloblastic Anemia type 1|enterocyte intrinsic factor receptor, defect of|MGA1 OMIM:261100|NCIT:C131677 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0009853 biolink:NamedThing Imerslund-Grasbeck syndrome Imerslund-Grasbeck syndrome (IGS) or selective vitamin B12 (cobalamin) malabsorption with proteinuria is a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in childhood. tmpaxzxjjyw_mondo_relaxed.owl familial megaloblastic anemia|Gräsbeck-Imerslund disease|selective cobalamin malabsorption with proteinuria|Imerslund-Grasbeck syndrome|juvenile megaloblastic Anemia|Imerslund-Gräsbeck syndrome|enterocyte cobalamin malabsorption|defect of enterocyte intrinsic factor receptor ICD10:D51.1|GARD:0007006|SCTID:360495000|ICD9:281.3|OMIMPS:261100|Orphanet:35858 owl:Class GO:0015291 biolink:NamedThing secondary active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. tmpaxzxjjyw_mondo_relaxed.owl energizer of outer membrane receptor-mediated transport activity|galactose/glucose (methylgalactoside) porter activity|porters|active transporter|nitrite/nitrate porter activity|electrochemical potential-driven transporter activity|multidrug endosomal transmembrane transporter activity|heavy metal ion porter activity|porter activity|secondary carrier-type facilitators|coupled carrier|ion-gradient-driven energizer activity owl:Class GO:0022804 biolink:NamedThing active transmembrane transporter activity Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. tmpaxzxjjyw_mondo_relaxed.owl pump activity|active carrier activity|permease activity|carrier activity owl:Class GO:0032113 biolink:NamedThing regulation of carbohydrate phosphatase activity Any process that modulates the frequency, rate or extent of carbohydrate phosphatase activity, the catalysis of the hydrolysis of phosphate from a carbohydrate phosphate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033637 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 7 tmpaxzxjjyw_mondo_relaxed.owl MC4DN7 OMIM:619051 owl:Class NCBITaxon:33993 biolink:NamedThing Neorickettsia tmpaxzxjjyw_mondo_relaxed.owl PMID:7537065|GC_ID:11|PMID:11760958 NCBITaxon:106180 ncbi_taxonomy owl:Class CL:1000415 biolink:NamedThing epithelial cell of gall bladder An epithelial cell that is part of the gallbladder. tmpaxzxjjyw_mondo_relaxed.owl FMA:67780 cell owl:Class HGNC:10542 biolink:NamedThing SBF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014782 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2X Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome|muscular dystrophy, limb-girdle, type 2x|BVES autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES|muscular dystrophy, limb-girdle, type 2X|LGMD2X UMLS:C4225199|OMIM:616812|DOID:0110290|Orphanet:476084 owl:Class MONDO:0044299 biolink:NamedThing myasthenic syndrome, congenital, 22 tmpaxzxjjyw_mondo_relaxed.owl Prepl deficiency|myasthenic syndrome, congenital, 22|CMS22 UMLS:C4479088|OMIM:616224|DOID:0080587|Orphanet:590 owl:Class CHEBI:65212 biolink:NamedThing polysaccharide derivative A carbohydrate derivative that is any derivative of a polysaccharide. tmpaxzxjjyw_mondo_relaxed.owl polysaccharide derivatives owl:Class MONDO:0008827 biolink:NamedThing progressive pseudorheumatoid arthropathy of childhood Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED. tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia tarda with progressive arthropathy|progressive pseudorheumatoid dysplasia|progressive pseudorheumatoid chondrodysplasia|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|spondyloepiphyseal dysplasia tarda - progressive arthropathy|PPD|SEDT-PA|progressive pseudorheumatoid arthropathy of childhood|PPAC|arthropathy, progressive pseudorheumatoid, of childhood Orphanet:1159|ICD10:Q77.7|DOID:0090004|OMIM:208230|SCTID:254065005|GARD:0009184|MESH:C535387|ICD9:756.9 owl:Class MONDO:0042489 biolink:NamedThing disease susceptibility A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. tmpaxzxjjyw_mondo_relaxed.owl diathesis|diatheses|susceptibility, disease|susceptibilities, disease|disease susceptibilities MESH:D004198 owl:Class MONDO:0012853 biolink:NamedThing Fontaine progeroid syndrome A rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated. tmpaxzxjjyw_mondo_relaxed.owl craniofacial dysostosis, hypertrichosis, Hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome|Petty Laxova Wiedemann syndrome|Petty-Laxova-Wiedemann syndrome|dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome|GCMS|dental and eye anomalies, patent ductus arteriosus, and normal intelligence|progeroid syndrome, congenital, Petty type|progeroid syndrome, Petty type|cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome|Gorlin Chaudhry Moss syndrome|Petty syndrome|progeroid syndrome Petty type|progeroid syndrome congenital Petty type|GCM syndrome|Fontaine progeroid syndrome|Gorlin-Chaudhry-Moss syndrome|FPS ICD10:Q87.0|UMLS:C2931653|Orphanet:2095|ICD9:759.89|SCTID:205800003|MESH:C537290|GARD:0000066|OMIM:233500|GARD:0004497|OMIM:612289|ICD10:E34.8 https://rarediseases.info.nih.gov/diseases/4497/progeroid-syndrome-petty-type owl:Class NCBITaxon:28216 biolink:NamedThing Betaproteobacteria tmpaxzxjjyw_mondo_relaxed.owl Proteobacteria beta subdivision|beta subgroup|beta subdivision|Purple bacteria, beta subdivision|b-proteobacteria|beta proteobacteria PMID:16403855|GC_ID:11|PMID:28581923 ncbi_taxonomy owl:Class CL:0002077 biolink:NamedThing ecto-epithelial cell An epithelial cell derived from ectoderm. tmpaxzxjjyw_mondo_relaxed.owl FMA:69074 tmeehan 2010-06-29T03:38:22Z cell owl:Class MONDO:0009495 biolink:NamedThing Keutel syndrome Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl pulmonic stenosis, brachytelephalangism, and calcification of cartilages|pulmonic stenosis brachytelephalangism and calcification of cartilages|pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome|Keutel syndrome|KEUTEL syndrome|KTLS MESH:C536167|Orphanet:85202|OMIM:245150|GARD:0008449|UMLS:C1855607|SCTID:724208006|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/8449/keutel-syndrome owl:Class MONDO:0021077 biolink:NamedThing cystic neoplasm A benign or malignant neoplasm that contains a single or multiple cystic spaces. Examples include cystadenoma, mucinous cystadenocarcinoma, and serous cystadenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl cystic neoplasm|cystic tumor UMLS:C1333190|NCIT:C6784 owl:Class MONDO:0008411 biolink:NamedThing ulnar-mammary syndrome Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described. tmpaxzxjjyw_mondo_relaxed.owl ums|Pallister ulnar-mammary syndrome|ulnar-mammary syndrome|Schinzel syndrome|ulnar-mammary syndrome of Pallister UMLS:C1866994|ICD10:Q71.8|ICD9:759.89|MESH:C536937|GARD:0000118|SCTID:700211007|OMIM:181450|DOID:0060614|Orphanet:3138 https://rarediseases.info.nih.gov/diseases/118/ulnar-mammary-syndrome owl:Class MONDO:0017758 biolink:NamedThing disorder of vitamin and non-protein cofactor absorption and transport tmpaxzxjjyw_mondo_relaxed.owl disorder of vitamin and non-protein cofactor absorption and transport UMLS:CN227203|Orphanet:309827 owl:Class MONDO:0017757 biolink:NamedThing disorder of metabolite absorption and transport tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227202|Orphanet:309824 owl:Class GO:0010942 biolink:NamedThing positive regulation of cell death Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0006753 biolink:NamedThing Neoplasm of the stomach A tumor (abnormal growth of tissue) of the stomach. tmpaxzxjjyw_mondo_relaxed.owl Stomach tumour|Neoplasia of the stomach|Stomach tumor MSH:D013274|SNOMEDCT_US:126824007|NCIT:C3262|UMLS:C4020813|UMLS:C0038356 human_phenotype owl:Class HP:0002577 biolink:NamedThing Abnormal stomach morphology An abnormality of the stomach. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the stomach UMLS:C4025699 The stomach is the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine. human_phenotype owl:Class UBERON:0003259 biolink:NamedThing endoderm of midgut tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044956 biolink:NamedThing paranasal sinus mucoepidermoid carcinoma A rare carcinoma that arises from the paranasal sinus. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. tmpaxzxjjyw_mondo_relaxed.owl mucoepidermoid carcinoma of accessory sinus|paranasal sinus mucoepidermoid carcinoma|mucoepidermoid carcinoma of the accessory sinus|mucoepidermoid carcinoma of the paranasal sinus|accessory sinus mucoepidermoid carcinoma|mucoepidermoid carcinoma of paranasal sinus NCIT:C6018 owl:Class GO:0070161 biolink:NamedThing anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. tmpaxzxjjyw_mondo_relaxed.owl anchoring cell junction owl:Class NCBITaxon:222543 biolink:NamedThing Hypocreomycetidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:17572334 NCBITaxon:673183 ncbi_taxonomy owl:Class MONDO:0008041 biolink:NamedThing myoclonic epilepsy, Hartung type tmpaxzxjjyw_mondo_relaxed.owl myoclonic epilepsy, Hartung type UMLS:C1834581|MESH:C563550|OMIM:159600 owl:Class GO:0098651 biolink:NamedThing basement membrane collagen trimer Any collagen timer that is part of a basement membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005581 biolink:NamedThing collagen trimer A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9046 biolink:NamedThing PLAGL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048260 biolink:NamedThing positive regulation of receptor-mediated endocytosis Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. tmpaxzxjjyw_mondo_relaxed.owl upregulation of receptor mediated endocytosis|activation of receptor mediated endocytosis|up-regulation of receptor mediated endocytosis|up regulation of receptor mediated endocytosis|stimulation of receptor mediated endocytosis|positive regulation of receptor mediated endocytosis owl:Class HP:0000939 biolink:NamedThing Osteoporosis Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:64859006|UMLS:C0029456|MSH:D010024 Osteoporosis is a disease that is characterized by low bone mass, deterioration of bone tissue, and disruption of bone microarchitecture: it can lead to compromised bone strength and an increase in the risk of fractures. HP:0002774 human_phenotype owl:Class MONDO:0023273 biolink:NamedThing pigmented dermatofibrosarcoma protuberans A morphologic variant of dermatofibrosarcoma protuberans characterized by the presence of melanin-pigmented dendritic cells. tmpaxzxjjyw_mondo_relaxed.owl Protuberan, Pigmented Dermatofibrosarcoma|Bednar's Tumor|Tumor, Bednar's|Protuberans, Pigmented Dermatofibrosarcoma|pigmented dermatofibrosarcoma protuberans (bednar tumor)|Pigmented dermatofibrosarcoma protuberans of skin|Dermatofibrosarcoma Protuberan, Pigmented|Bednars Tumor|Tumor, Bednar|Pigmented Dermatofibrosarcoma Protuberans (Bednar Tumor)|Pigmented DFSP|DFSP, Pigmented|Pigmented Dermatofibrosarcoma Protuberan|Pigmented Dermatofibrosarcoma Protuberans|Pigmented dermatofibrosarcoma protuberans|Pigmented DFSPs|Pigmented dermatofibrosarcoma|Dermatofibrosarcoma Protuberans, Pigmented|Bednar tumor|DFSPs, Pigmented|pigmented dermatofibrosarcoma protuberans|Pigmented storiform neurofibroma|bednar tumor|Bednar Tumor GARD:0009624|NCIT:C9430|UMLS:C0334464|SCTID:398670003 owl:Class MONDO:0003332 biolink:NamedThing malignant struma ovarii An ovarian mature teratoma characterized by the presence of aberrant thyroid tissue with morphologic changes identical to thyroid carcinoma. Patients may present with abdominal mass and unusual symptoms due to thyrotoxicosis, or with Meigs syndrome (ascites and pleural effusion). tmpaxzxjjyw_mondo_relaxed.owl struma ovarii, malignant (morphologic abnormality)|struma ovarii, malignant ICDO:9090/3|DOID:5208|NCIT:C4291|UMLS:C0334525 owl:Class MONDO:0017824 biolink:NamedThing familial isolated pituitary adenoma tmpaxzxjjyw_mondo_relaxed.owl FIPA OMIM:102200|SCTID:702375004|OMIM:600634|UMLS:CN239192|UMLS:CN244420|OMIMPS:102200|Orphanet:314777|ICD10:D35.2 Editor note: TODO check this owl:Class MONDO:0024265 biolink:NamedThing Duane syndrome type 1 Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery. tmpaxzxjjyw_mondo_relaxed.owl Duane anomaly|retraction syndrome|Duane syndrome|DURS1|Duane retraction syndrome 1|Drs OMIM:126800|Orphanet:233|UMLS:C0013261|GARD:0010763|SCTID:128082002 https://rarediseases.info.nih.gov/diseases/10763/duane-syndrome-type-1 owl:Class MONDO:0007473 biolink:NamedThing Duane retraction syndrome Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia. tmpaxzxjjyw_mondo_relaxed.owl Stilling-Turk-Duane syndrome|Duane's syndrome|Duane syndrome|Duane retraction syndrome|Duane anomaly|retraction syndrome|DURS|DRS SCTID:60318001|MedDRA:10013799|NCIT:C84678|Orphanet:233|MESH:D004370|UMLS:C0013261|OMIM:617041|ICD10:H50.81|OMIM:616219|OMIMPS:126800|GARD:0006288|DOID:12557|ICD10:H50.8|OMIM:604356|OMIM:126800|ICD9:378.71 https://rarediseases.info.nih.gov/diseases/6288/duane-syndrome owl:Class GO:0006505 biolink:NamedThing GPI anchor metabolic process The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. tmpaxzxjjyw_mondo_relaxed.owl GPI/GSI anchor metabolic process|glycosylphosphatidylinositol metabolism|GPI/GSI anchor metabolism|GPI anchor metabolism|glycosylphosphatidylinositol metabolic process owl:Class GO:0006664 biolink:NamedThing glycolipid metabolic process The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. tmpaxzxjjyw_mondo_relaxed.owl glycolipid metabolism owl:Class MONDO:0022843 biolink:NamedThing congenital mumps tmpaxzxjjyw_mondo_relaxed.owl GARD:0001498 https://rarediseases.info.nih.gov/diseases/1498/congenital-mumps owl:Class CL:2000065 biolink:NamedThing ovarian microvascular endothelial cell Any microvascular endothelial cell that is part of a female urethra. tmpaxzxjjyw_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7300 TermGenie 2014-10-07T18:18:01Z cell owl:Class CL:2000008 biolink:NamedThing microvascular endothelial cell Any blood vessel endothelial cell that is part of a microvascular endothelium. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-04T15:07:42Z cell owl:Class MONDO:0007479 biolink:NamedThing dwarfism, Levi type tmpaxzxjjyw_mondo_relaxed.owl dwarfism Levi type|dwarfism, Levi type|dwarfism Levi's type|snub-nosed type of dwarfism GARD:0006294|OMIM:127100|MESH:C565081|UMLS:C1851994 https://rarediseases.info.nih.gov/diseases/6294/dwarfism-levi-type owl:Class HGNC:13508 biolink:NamedThing BPY2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0034976 biolink:NamedThing iatrogenic Creutzfeldt-Jakob disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:576379 owl:Class MONDO:0043544 biolink:NamedThing nosocomial infection An infection acquired in a hospital or other healthcare setting. tmpaxzxjjyw_mondo_relaxed.owl infections, hospital|associated infection, Healthcare|health care associated infections|Healthcare-associated infection|associated infections, Healthcare|hospital-onset infection|infection, Healthcare associated|hospital-acquired infection|infection, Cross|infection, nosocomial|infection, hospital|health care associated infection|nosocomial infection|hospital infections|Cross infections|Healthcare associated infections|hospital infection|infections, Cross|Healthcare associated infection|infections, Healthcare associated|HAI|nosocomial infections|infections, nosocomial|nosocomial infectious disease MESH:D003428|EFO:1001299|UMLS:C0205721|NCIT:C115164|SCTID:19168005 owl:Class MONDO:0008178 biolink:NamedThing inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia. tmpaxzxjjyw_mondo_relaxed.owl pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with Paget disease of bone|IBMPFD1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 1|lower motor neuron degeneration with Paget-like bone disease Orphanet:52430|NCIT:C122663|MESH:C563476|OMIM:167320|DOID:0111385 owl:Class MONDO:0009817 biolink:NamedThing autosomal recessive osteopetrosis 5 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the OSTM1 gene. tmpaxzxjjyw_mondo_relaxed.owl osteopetrosis, autosomal recessive 5|osteopetrosis infantile malignant 3|osteopetrosis autosomal recessive 5|osteopetrosis, infantile malignant 3|autosomal recessive osteopetrosis type 5|OSTM1 osteopetrosis (disease)|OPTB5|osteopetrosis (disease) caused by mutation in OSTM1|osteopetrosis, autosomal recessive type 5|infantile malignant osteopetrosis 3|autosomal recessive osteopetrosis 5 Orphanet:85179|OMIM:259720|MESH:C566883|DOID:0110939|GARD:0004153 https://rarediseases.info.nih.gov/diseases/4153/osteopetrosis-autosomal-recessive-5 owl:Class MONDO:0010866 biolink:NamedThing infantile osteopetrosis with neuroaxonal dysplasia This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. tmpaxzxjjyw_mondo_relaxed.owl osteopetrosis and infantile neuroaxonal dystrophy MESH:C536055|Orphanet:85179|SCTID:724226009|GARD:0010082|OMIM:259720|UMLS:C1838258|OMIM:600329|ICD10:Q78.2 owl:Class MONDO:0033010 biolink:NamedThing erythrokeratodermia variabilis et progressiva 1 tmpaxzxjjyw_mondo_relaxed.owl erythrokeratodermia variabilis ET progressiva 1|erythrokeratodermia variabilis|EKVP1|erythrokeratodermia, progressive symmetric|Greither disease|erythrokeratodermia variabilis Et progressiva|erythrokeratodermia variabilis with erythema Gyratum Repens|erythrokeratodermia Figurata, congenital familial, in plaques|keratosis palmoplantaris transgrediens Et progrediens OMIM:133200|Orphanet:495|DOID:0111195|Orphanet:316|Orphanet:317|UMLS:C0265961 owl:Class GO:0106119 biolink:NamedThing negative regulation of sterol biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of a sterol biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008989 biolink:NamedThing submucosal esophageal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011148 biolink:NamedThing submucosal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001010 biolink:NamedThing hydrometeor A meteor which is primarily composed of water. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001008 biolink:NamedThing meteor A meteor is any matter- or energy-based entity which is located in the atmosphere of an astronomical body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:715989 biolink:NamedThing sordariomyceta tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:2000727 biolink:NamedThing positive regulation of cardiac muscle cell differentiation Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cardiomyocyte differentiation|positive regulation of heart muscle cell differentiation owl:Class GO:0002719 biolink:NamedThing negative regulation of cytokine production involved in immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of cytokine production contributing to an immune response. tmpaxzxjjyw_mondo_relaxed.owl inhibition of cytokine production during immune response|downregulation of cytokine production during immune response|down regulation of cytokine production during immune response|negative regulation of cytokine secretion involved in immune response|down-regulation of cytokine production during immune response|negative regulation of cytokine production during immune response|negative regulation of cytokine biosynthetic process involved in immune response owl:Class MONDO:0018432 biolink:NamedThing lichen myxedematosus tmpaxzxjjyw_mondo_relaxed.owl lichen myxoedematosus|lichenoid myxedema|papular mucinosis UMLS:C0263390|ICD9:701.8|SCTID:111197009|Orphanet:402007|ICD10:L98.5 owl:Class MONDO:0018950 biolink:NamedThing 3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. tmpaxzxjjyw_mondo_relaxed.owl 3-methylcrotonyl-CoA carboxylase deficiency|methylcrotonylglycinuria|3MCC deficiency|BMCC deficiency|Methylcrotonyl-CoA carboxylase deficiency|MCCD|3-MCC deficiency|3-methylcrotonylglycinuria|MCC deficiency MESH:C535308|OMIM:210200|SCTID:13144005|ICD10:E71.1|DOID:0050710|UMLS:C0268600|GARD:0010954|UMLS:CN239165|OMIMPS:210200|OMIM:210210|Orphanet:6|NCIT:C98674 owl:Class MONDO:0017014 biolink:NamedThing interstitial lung disease specific to childhood A interstitial lung disease that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl chILD|interstitial lung disease of childhood|childhood interstitial lung disease|chILD syndrome|ILD specific to childhood|pediatric interstitial lung disease UMLS:CN202324|Orphanet:264656|SCTID:328661000119108 The terms chILD or chILD syndrome (not preferred) have been coined to memorize easily and to identify a phenotype that requires prompt and expert evaluation. https://github.com/monarch-initiative/mondo/issues/4389 owl:Class HGNC:6842 biolink:NamedThing MAP2K2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1489341 biolink:NamedThing Osteoglossocephalai tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:32443 biolink:NamedThing Teleostei tmpaxzxjjyw_mondo_relaxed.owl teleost fishes GC_ID:1 ncbi_taxonomy owl:Class CL:0002232 biolink:NamedThing epithelial cell of prostatic duct An epithelial cell of prostatic duct. tmpaxzxjjyw_mondo_relaxed.owl ductal epithelial cell of prostate FMA:74224 tmeehan 2010-09-07T01:55:51Z CL:1000462 cell owl:Class MONDO:0044737 biolink:NamedThing autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive complex SPG due to Kennedy pathway dysfunction Orphanet:506353 owl:Class HP:0025015 biolink:NamedThing Abnormal vascular morphology tmpaxzxjjyw_mondo_relaxed.owl 2016-08-12 11:24:56+00:00 HPO:probinson human_phenotype owl:Class NCBITaxon:28556 biolink:NamedThing Pleosporaceae tmpaxzxjjyw_mondo_relaxed.owl Pyrenophoraceae GC_ID:1 NCBITaxon:117568 ncbi_taxonomy owl:Class NCBITaxon:715340 biolink:NamedThing Pleosporineae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0100658 biolink:NamedThing Cellulitis A bacterial infection and inflammation of the skin und subcutaneous tissues. tmpaxzxjjyw_mondo_relaxed.owl Bacterial infection of skin|Skin infections|Skin infection SNOMEDCT_US:385627004|UMLS:C0162627|MSH:D002481|UMLS:C0007642|SNOMEDCT_US:128936008|SNOMEDCT_US:128045006|MSH:D017192 In contrast to impetigo, which is a very superficial skin infection, cellulitis involves both the dermis and the underlying subcutaneous tissue. doelkens 2010-12-30T10:11:51Z HP:0003553 human_phenotype owl:Class HP:0003549 biolink:NamedThing Abnormality of connective tissue Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025596 human_phenotype owl:Class MONDO:0004631 biolink:NamedThing tongue cancer A malignant neoplasm affecting the tongue. The vast majority of cases are carcinomas. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the tongue|malignant neoplasm of tongue|malignant neoplasm of dorsal surface of tongue|tongue neoplasm, malignant|tongue neoplasm malignant|malignant tumor of the tongue|malignant neoplasm of fixed part of tongue NOS|malignant neoplasm of anterior 2/3 of tongue|malignant tongue tumor|malignant neoplasm of tongue NOS|malignant neoplasm of dorsal tongue|malignant neoplasm of dorsum of tongue|malignant neoplasm of base of tongue|malignant neoplasm of border of tongue|cancer of tongue|malignant neoplasm of other sites of tongue|tongue neoplasm malignant stage unspecified|malignant neoplasm of ventral surface of tongue|malignant neoplasm of tip and lateral border of tongue|malignant neoplasm of anterior two-thirds of tongue, part unspecified|tongue cancer|malignant tumor of tongue|malignant tumor of mobile part of tongue|malignant neoplasm of anterior two-thirds of tongue|malignant tumor of lingual tonsil (disorder)|malignant neoplasm of tongue, NOS|malignant tumor of base of tongue|malignant tumor of lingual tonsil|malignant tongue neoplasm|tongue carcinoma|malignant neoplasm of ventral tongue surface|malignant tumor of anterior two-thirds of tongue|malignant neoplasm of tongue, tip and lateral border|malignant neoplasm of tip and/or lateral border of tongue|malignant neoplasm of fixed part of tongue|malignant neoplasm of lingual tonsil|malignant neoplasm of dorsal tongue NOS|malignant neoplasm of junctional zone of tongue|malignant neoplasm of mobile part of tongue|malignant neoplasm of mobile part of tongue NOS|malignant tumor of posterior tongue ICD9:141.1|ICD9:141.5|ICD10:C02.9|ICD9:141|ICD9:141.2|ICD9:141.0|MESH:D014062|NCIT:C9345|ICD9:141.4|ICD10:C02.4|GARD:0007779|SCTID:363360003|ICD10:C02.2|DOID:8649|ICD9:141.9|ICD10:C02.0|ICD9:141.6|ICD9:141.3|ICD10:C01|ICD10:C02.1 https://rarediseases.info.nih.gov/diseases/7779/tongue-cancer owl:Class HGNC:4189 biolink:NamedThing GCDH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100112 biolink:NamedThing acyl-CoA binding domain containing protein 5 deficiency A disorder of a single peroxisomal protein, acyl-CoA binding domain containing protein 5, which forms a contact site between the peroxisomes and the ER. The deficiency is characterized by elevated blood very long-chain fatty acids (VLCFAs), retinal dystrophy, cerebral white matter disease and psychomotor delay. tmpaxzxjjyw_mondo_relaxed.owl ACBD5 deficiency|acyl-CoA binding domain containing protein 5 deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0019233 biolink:NamedThing disorder of peroxisomal beta oxidation tmpaxzxjjyw_mondo_relaxed.owl disorder of peroxisomal beta oxidation UMLS:CN227598|ICD10:E71.3|GARD:0012470|Orphanet:79188 https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/12470/peroxisomal-beta-oxidation-disorder owl:Class HP:0002904 biolink:NamedThing Hyperbilirubinemia An increased amount of bilirubin in the blood. tmpaxzxjjyw_mondo_relaxed.owl High blood bilirubin levels UMLS:C0311468|SNOMEDCT_US:26165005 human_phenotype owl:Class HP:0033479 biolink:NamedThing Abnormal circulating bilirubin concentration tmpaxzxjjyw_mondo_relaxed.owl 2021-01-09 23:02:44+00:00 peter human_phenotype owl:Class NCBITaxon:2212966 biolink:NamedThing Echinococcus granulosus group tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012216 biolink:NamedThing foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome tmpaxzxjjyw_mondo_relaxed.owl foveal hypoplasia 2|foveal hypoplasia 2 with optic nerve decussation defects and anterior segment dysgenesis without albinism|FHONDA syndrome|foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome|foveal hypoplasia type 2|FVH2|foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis MESH:C563774|Orphanet:397618|ICD10:Q15.8|OMIM:609218 owl:Class HGNC:3519 biolink:NamedThing EYA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000177 biolink:NamedThing testosterone secreting cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0016564 biolink:NamedThing progressive supranuclear palsy-progressive non-fluent aphasia syndrome PSP-progressive non fluent aphasia (PSP-PNFA) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. Unlike classic PSP (Richardson syndrome) patients present with an isolated speech production problem years before developing other motor features of PSP. tmpaxzxjjyw_mondo_relaxed.owl progressive supranuclear palsy-apraxia of speech syndrome|PSP-AOS|PSP-PNFA ICD10:G23.1|UMLS:CN226962|Orphanet:240112 owl:Class MONDO:0001877 biolink:NamedThing infertility due to extratesticular cause tmpaxzxjjyw_mondo_relaxed.owl infertility due to extratesticular causes DOID:14096|SCTID:84245004|UMLS:C0021360|ICD9:606.8 owl:Class MONDO:0009548 biolink:NamedThing renal hypomagnesemia 5 with ocular involvement Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities. tmpaxzxjjyw_mondo_relaxed.owl hypercalciuria-bilateral macular coloboma syndrome|Meier Blumberg Imahorn syndrome|bilateral macular coloboma with hypercalciuria|hypomagnesemia 5, renal, with ocular involvement|hypomagnesemia, renal, with ocular involvement|familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement|Meier-Blumberg-Imahorn syndrome|HOMG5|familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement|FHHNC with severe ocular involvement|FHHNCOI|hypomagnesemia, familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement|macular coloboma, bilateral, with hypercalciuria|idiopathic hypercalciuria with bilateral macular colobomata MESH:C536148|DOID:0060881|ICD10:E83.4|OMIM:248190|Orphanet:2196|GARD:0003451 https://rarediseases.info.nih.gov/diseases/3451/meier-blumberg-imahorn-syndrome owl:Class MONDO:0017624 biolink:NamedThing familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN). tmpaxzxjjyw_mondo_relaxed.owl FHHNC|Michellis-Castrillo syndrome Orphanet:306516|UMLS:CN203511|ICD10:E83.4|GARD:0009891 https://rarediseases.info.nih.gov/diseases/9891/familial-primary-hypomagnesemia-with-hypercalciuria-and-nephrocalcinosis owl:Class MONDO:0017190 biolink:NamedThing sporadic pheochromocytoma/secreting paraganglioma Sporadic pheochromocytoma/secreting paraganglioma are isolated, non-familial, catecholamin-producing tumors arising from neuroendocrine chromaffin cells in the adrenal medulla or in extra-adrenal chromaffin tissue, respectively. The majority of these tumors are benign and the presenting symptoms are typically caused by the increased catecholamine production of the tumor, including hypertension (often paroxysmal), tachycardia, anxiety and/or excessive sweating. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202630|GARD:0007385|ICD10:D35.0|Orphanet:276621|ICD10:C74.1 owl:Class UBERON:0014780 biolink:NamedThing palatine aponeurosis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006614 biolink:NamedThing aponeurosis tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7698 biolink:NamedThing NDUFB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017626 biolink:NamedThing familial primary hypomagnesemia with normocalcuria Familial primary hypomagnesemia with normocalcuria (FPHN) is a form of familial primary hypomagnesemia (FPH) which is characterized by low magnesium values but normal calcium values in the serum. The disorder consists of three distinct forms which are: autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia (ARPHN), familial primary hypomagnesemia with normocalcuria and normocalcemia (FPHNN) and isolated autosomal dominant hypomagnesemia, Glaudemans type. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227164|Orphanet:306522|ICD10:E83.4 owl:Class MONDO:0018100 biolink:NamedThing familial primary hypomagnesemia A hereditary disorder that leads to a selective defect in renal or intestinal magnesium absorption, resulting in a low serum magnesium concentration. tmpaxzxjjyw_mondo_relaxed.owl HOMG|hypomagnesemia|familial primary hypomagnesemia|primary familial hypomagnesemia ICD10:E83.4|SCTID:80710001|OMIMPS:602014|NCIT:C123263|GARD:0002906|Orphanet:34526|DOID:0060879 owl:Class MONDO:0008895 biolink:NamedThing hereditary arterial and articular multiple calcification syndrome Hereditary arterial and articular multiple calcification syndrome is a very rare genetic vascular disease of autosomal recessive inheritance, described in less than 20 patients to date, characterized by adult-onset (as early as the second decade of life) isolated calcification of the arteries of the lower extremities (including the iliac, femoral, and tibial arteries) as well as the capsule joints of the fingers, wrists, ankles and feet, and that usually manifests with mild paresthesias of the lower extremities, intense joint pain and swelling, and early onset arthritis of affected joints. tmpaxzxjjyw_mondo_relaxed.owl arterial calcification due to CD73 deficiency|calcification of joints and arteries|ACDC|arterial calcification and distal joint calcification|CALJA|arterial calcification due to deficiency of Cd73 MESH:C565891|OMIM:211800|Orphanet:289601|GARD:0010762|SCTID:718602007|DOID:0111582|UMLS:C1859372|UMLS:C4305347 owl:Class MONDO:0044782 biolink:NamedThing esophageal ulcer An ulcerated lesion in the esophageal wall. tmpaxzxjjyw_mondo_relaxed.owl esophagus ulcer disease|esophagus ulcer|esophageal ulcer|ulcer disease of esophagus HP:0004791|NCIT:C26950 owl:Class MONDO:0003749 biolink:NamedThing esophageal disorder A non-neoplastic or neoplastic disorder that affects the esophagus. Representative examples of non-neoplastic disorders include esophagitis and esophageal ulcer. Representative examples of neoplastic disorders include carcinomas, lymphomas, and melanomas. tmpaxzxjjyw_mondo_relaxed.owl esophagus disease|disease of esophagus|esophageal ulcer|esophagus disease or disorder|esophageal disorder|disorder of esophagus|disease or disorder of esophagus SCTID:30811009|ICD10:K22.9|ICD9:530|NCIT:C3027|ICD9:530.9|UMLS:C0014852|DOID:6050|MESH:D004935|ICD9:530.20|SCTID:37657006|ICD9:530.2 owl:Class MONDO:0008254 biolink:NamedThing platelet disorder, undefined tmpaxzxjjyw_mondo_relaxed.owl platelet disorder, undefined MESH:C566799|UMLS:C1868258|OMIM:173420 owl:Class MONDO:0017932 biolink:NamedThing muscular hypertrophy-hepatomegaly-polyhydramnios syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:324416|UMLS:CN204070 owl:Class MONDO:0021323 biolink:NamedThing malignant neoplasm of chest wall A cancer that involves the chest wall. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of chest wall|cancer of chest wall|malignant neoplasm of the chest wall|malignant tumor of chest wall|malignant chest wall neoplasm|malignant chest wall tumor|malignant tumor of the chest wall|chest wall cancer SCTID:712750007|UMLS:C0346948|NCIT:C4580 owl:Class CHEBI:48730 biolink:NamedThing aluminosilicate mineral Silicate minerals that contain aluminium, silicon, and oxygen, together with other ions. They are a major component of clay minerals. tmpaxzxjjyw_mondo_relaxed.owl aluminosilicato|aluminosilicates|Alumosilikat|Alumosilikate owl:Class UBERON:0004439 biolink:NamedThing proximal epiphysis of middle phalanx of manual digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014725 biolink:NamedThing spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome tmpaxzxjjyw_mondo_relaxed.owl spastic tetraplegia, thin corpus callosum, and progressive microcephaly|SPATCCM|spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome|ASCT1 deficiency Orphanet:447997|ICD10:Q02|UMLS:C4225254|OMIM:616657 owl:Class MONDO:0006701 biolink:NamedThing chromophobe adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells do not stain with acidic or basic dyes. tmpaxzxjjyw_mondo_relaxed.owl pituitary chromophobe adenoma|pituitary gland chromophobe adenoma|chromophobe adenoma of the pituitary gland|chromophobe adenoma of pituitary gland DOID:3828|EFO:1000867|ICDO:8270/0|MESH:D000238|NCIT:C2857|UMLS:C0001432 owl:Class MONDO:0019873 biolink:NamedThing 4p16.3 microduplication syndrome 4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported. tmpaxzxjjyw_mondo_relaxed.owl trisomy 4pter|distal duplication 4p|distal trisomy 4p|telomeric duplication 4p Orphanet:96072|SCTID:726706008|ICD10:Q92.3|UMLS:CN206808|UMLS:C4512053 owl:Class MONDO:0002260 biolink:NamedThing hidradenitis An inflammatory disease involving a pathogenic inflammatory response in the apocrine sweat gland. tmpaxzxjjyw_mondo_relaxed.owl Hydradenitis|apocrine sweat gland|apocrine sweat gland inflammation|inflammation of apocrine sweat gland SCTID:69741000|ICD9:705.83|NCIT:C112190|NCIT:C32132|DOID:2282|MESH:D016575|UMLS:C0085160 owl:Class MONDO:0100078 biolink:NamedThing resistant hypertension A severe medical condition which is estimated to appear in 9-18% of hypertensive patients, in which treatement with 3 or more antihypertensive drugs including diuretics are ineffective. tmpaxzxjjyw_mondo_relaxed.owl drug resistant hypertension owl:Class GO:0030162 biolink:NamedThing regulation of proteolysis Any process that modulates the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. tmpaxzxjjyw_mondo_relaxed.owl regulation of peptidolysis owl:Class MONDO:0013940 biolink:NamedThing primary ciliary dyskinesia 18 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF5 gene. tmpaxzxjjyw_mondo_relaxed.owl ciliary dyskinesia, primary, 18, with or without situs inversus|ciliary dyskinesia, primary, type 18|DNAAF5 primary ciliary dyskinesia|primary ciliary dyskinesia 18 with or without situs inversus|ciliary dyskinesia, primary, 18|primary ciliary dyskinesia type 18|primary ciliary dyskinesia caused by mutation in DNAAF5|CILD18 ICD10:Q34.8|OMIM:614874|UMLS:C3543825|DOID:0110604 owl:Class MONDO:0010304 biolink:NamedThing Graves disease, susceptibility to, X-linked 1 tmpaxzxjjyw_mondo_relaxed.owl Graves disease, susceptibility to, X-linked 2|Grdx1|Graves disease, susceptibility to, X-linked 1|Graves disease, susceptibility to, X-linked type 1 OMIM:300351 owl:Class MONDO:0009664 biolink:NamedThing mulibrey nanism A prenatal onset growth disorder with multiorgan manifestations. tmpaxzxjjyw_mondo_relaxed.owl muscle-liver-brain-eye nanism|Perheentupa syndrome|MUL|pericardial constriction and growth failure|pericardial constriction and Growth failure|mulibrey nanism|pericardial constriction-growth failure syndrome|mulibrey dwarfism OMIM:253250|MESH:D050336|UMLS:C2931895|Orphanet:2576|ICD10:Q87.1|UMLS:C0524582|GARD:0000095|SCTID:81604003|ICD9:759.89|DOID:0050436|NCIT:C84906 https://rarediseases.info.nih.gov/diseases/95/mulibrey-nanism|https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0014224 biolink:NamedThing developmental delay with autism spectrum disorder and gait instability Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior. tmpaxzxjjyw_mondo_relaxed.owl developmental delay with ASD and gait instability|mental retardation, autosomal recessive 38|MRT38|intellectual disability, autosomal recessive type 38|mental retardation, autosomal recessive type 38|intellectual disability, autosomal recessive 38 OMIM:615516|UMLS:C3809753|Orphanet:329195 owl:Class OBO:MF_0000030 biolink:NamedThing representation A dependent continuant which is about a portion of reality. tmpaxzxjjyw_mondo_relaxed.owl http://www.jbiomedsem.com/content/1/1/10 owl:Class MONDO:0021631 biolink:NamedThing brain astrocytoma A astrocytoma (excluding glioblastoma) that involves the brain. tmpaxzxjjyw_mondo_relaxed.owl brain astrocytoma (excluding glioblastoma)|brain astrocytoma|astrocytoma (excluding glioblastoma) of brain NCIT:C60780|SCTID:254938000|UMLS:C3695127 owl:Class MONDO:0060502 biolink:NamedThing neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies|NDMSBA Orphanet:521426|OMIM:617527|UMLS:C4479631 owl:Class UBERON:0009200 biolink:NamedThing limb epidermis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:3000981 biolink:NamedThing limb external integument structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000534 biolink:NamedThing Abnormal eyebrow morphology An abnormality of the eyebrow. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the eyebrow UMLS:C4011556 human_phenotype owl:Class HGNC:6182 biolink:NamedThing ITPR3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002614 biolink:NamedThing bone inflammation disease Inflammation of the bone. tmpaxzxjjyw_mondo_relaxed.owl osteitis|bone inflammatory disease|inflammatory disorder of bone UMLS:C0029400|SCTID:274144001|DOID:3342|MESH:D010000 owl:Class MONDO:0010460 biolink:NamedThing syndromic X-linked intellectual disability 17 Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals. tmpaxzxjjyw_mondo_relaxed.owl X-linked intellectual disability with alacrima and achalasia|mental retardation, X-linked, syndromic 17|intellectual disability, X-linked, syndromic 17|intellectual disability, X-linked, with alacrima and achalasia|syndromic X-linked intellectual disability type 17|X-linked mental retardation with alacrima and achalasia|mental retardation, X-linked, with alacrima and achalasia|intellectual disability-alacrima-achalasia syndrome|MRXS17 Orphanet:289483|UMLS:C3275460|DOID:0060803|OMIM:300858 owl:Class MONDO:0018701 biolink:NamedThing congenital nemaline myopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:457074 owl:Class UBERON:0004711 biolink:NamedThing jugular vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001584 biolink:NamedThing ocular motility disease tmpaxzxjjyw_mondo_relaxed.owl eye movement disorder|disorder of eye movements SCTID:45030009|EFO:1001990|DOID:1279|ICD9:378.9|GARD:0007237 owl:Class PATO:0001579 biolink:NamedThing contractility A physical quality that is the ability to contract or shrink. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000407 biolink:NamedThing malignant pleural solitary fibrous tumor A malignant form of pleural solitary fibrous tumor. tmpaxzxjjyw_mondo_relaxed.owl pleural solitary fibrous tumor, malignant DOID:0050695 owl:Class MONDO:0021041 biolink:NamedThing pleural solitary fibrous tumor A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen. tmpaxzxjjyw_mondo_relaxed.owl localized fibrous mesothelioma of the pleura|pleural Submesothelial fibroma|pleural fibroma|solitary fibrous tumor of the pleura|localized fibrous mesothelioma of pleura|fibroma of the pleura|pleural solitary fibrous tumor|pleural cavity solitary fibrous tumor|pleura solitary fibrous tumor|fibroma of pleura|solitary fibrous tumor of pleura EFO:1000835|NCIT:C4457|SCTID:254646001 owl:Class MONDO:0014550 biolink:NamedThing long QT syndrome 15 Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene. tmpaxzxjjyw_mondo_relaxed.owl CALM2 long QT syndrome|LQT15|long QT syndrome type 15|long QT syndrome caused by mutation in CALM2|long QT syndrome 15 DOID:0110656|Orphanet:101016|ICD10:I45.8|OMIM:616249|Orphanet:768|UMLS:C4015695 owl:Class HGNC:5320 biolink:NamedThing HYAL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013158 biolink:NamedThing foregut-midgut junction gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007369 biolink:NamedThing hereditary coproporphyria Hereditary coproporphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions. tmpaxzxjjyw_mondo_relaxed.owl hereditary coproporphyria porphyria|coproporphyria, hereditary|hereditary coproporphyria|coproporphyrinogen oxidase deficiency|CPRO deficiency|coproporphyria|Cpox deficiency|porphyria hepatica coproporphyria|porphyria hepatica II|Cpx deficiency|coproporphyria hereditary|HCP|Cpo deficiency|Harderoporphyria Orphanet:79273|ICD10:E80.29|MedDRA:10019866|SCTID:7425008|ICD10:E80.2|DOID:13269|MESH:D046349|GARD:0006619|UMLS:C0162531|NCIT:C84759|OMIM:121300 https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria owl:Class HGNC:10360 biolink:NamedThing RPL5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29216 biolink:NamedThing ARHGAP31 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019991 biolink:NamedThing immunotactoid glomerulopathy Immunotactoid glomerulopathy (ITG) is a very rare condition characterized by glomerular accumulation of microtubules in the mesangium and the glomerular basement membrane, that mainly presents with proteinuria, micro-hematuria, nephrotic syndrome, renal insufficiency and hematologic malignancy. ITG and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) are often grouped together as pathogenetically related diseases. tmpaxzxjjyw_mondo_relaxed.owl fibrillary glomerulonephritis|Immunotactoid glomerulonephritis|FGN NCIT:C96182|ICD9:583.9|Orphanet:97567|SCTID:73305009|ICD10:N03.6|GARD:0012048 https://rarediseases.info.nih.gov/diseases/12048/immunotactoid-glomerulopathy owl:Class HP:0001650 biolink:NamedThing Aortic valve stenosis The presence of a stenosis (narrowing) of the aortic valve. tmpaxzxjjyw_mondo_relaxed.owl Narrowing of aortic valve|Valvular aortic stenosis|Aortic stenosis Fyler:1411|SNOMEDCT_US:60573004|MSH:D001024|UMLS:C0003507 Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. HP:0005140 human_phenotype owl:Class HP:0031652 biolink:NamedThing Abnormal aortic valve physiology tmpaxzxjjyw_mondo_relaxed.owl 2017-12-17 15:20:51+00:00 peter human_phenotype owl:Class MONDO:0015819 biolink:NamedThing indolent primary cutaneous B-cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:178557 owl:Class MONDO:0003292 biolink:NamedThing anus leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the anus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl anus leiomyoma|leiomyoma of the anus|leiomyoma of anus|anal leiomyoma UMLS:C1332266|NCIT:C5608|DOID:5134 owl:Class MONDO:0019666 biolink:NamedThing spondyloepimetaphyseal dysplasia, PAPSS2 type Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. tmpaxzxjjyw_mondo_relaxed.owl spondyloepimetaphyseal dysplasia Pakistani type|SEMD, Pakistani type|spondyloepimetaphyseal dysplasia, Pakistani type|BCYM4|spondylodysplasia and premature pubarche|brachyolmia type 4 with mild epiphyseal and metaphyseal changes DOID:0050812|SCTID:719172003|OMIM:612847|Orphanet:93282|ICD10:Q77.7 owl:Class CL:0000511 biolink:NamedThing androgen binding protein secreting cell A peptide hormone secreting cell that secretes androgen binding protein. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0023243 biolink:NamedThing glass-chapman-hockley syndrome The Glass-Chapman-Hockley syndrome is a very rare disease. To date, the syndrome has only been reported in one family with five members affected in three generations. The first patients were two brothers that had an abnormally-shaped head due to coronal craniosynostosis. Their mother, maternal aunt, and maternal grandmother were also found to have the syndrome. The signs and symptoms varied from person to person; however, the signs and symptoms included coronal craniosynostosis, small middle part of the face (midfacial hypoplasia), and short fingers (brachydactyly).The inheritance is thought to be autosomal dominant. No genes have been identified for this syndrome. Treatment included surgery to correct the craniosynostosis. No issues with development and normal intelligence were reported. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis brachydactyly|craniosynostosis with facial dysmorphism and brachydactyly syndrome|craniosynostosis-dysmorphism-brachydactyly syndrome|glass chapman hockley syndrome|craniosynostosis - dysmorphism - brachydactyly UMLS:C4303810|GARD:0002479|Orphanet:1535|SCTID:720814001 https://rarediseases.info.nih.gov/diseases/2479/glass-chapman-hockley-syndrome owl:Class UBERON:0009603 biolink:NamedThing right lung associated mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042446 biolink:NamedThing hormone biosynthetic process The chemical reactions and pathways resulting in the formation of any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. tmpaxzxjjyw_mondo_relaxed.owl hormone anabolism|hormone formation|hormone synthesis|hormone biosynthesis owl:Class MONDO:0001650 biolink:NamedThing acute cystitis An acute infection of the bladder. It is usually caused by bacteria. Signs and symptoms include increased frequency of urination, pain or burning during urination, fever, cloudy or bloody urine, and suprapubic pain. tmpaxzxjjyw_mondo_relaxed.owl acute cystitis|acute cystitis (disease)|cystitis, acute acute cystitis (disease) NCIT:C26934|SCTID:68226007|DOID:13148|ICD10:N30.0|ICD9:595.0|UMLS:C0149523 owl:Class MONDO:0012626 biolink:NamedThing Meckel syndrome, type 4 Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene. tmpaxzxjjyw_mondo_relaxed.owl Meckel syndrome caused by mutation in CEP290|MKS4|Meckel syndrome, type 4|Meckel syndrome 4|Meckel-like Cerebrorenodigital syndrome|Meckel-Gruber syndrome, type 4|CEP290 Meckel syndrome Orphanet:564|OMIM:611134|UMLS:C1970161|ICD10:Q61.9|DOID:0070118 owl:Class UBERON:0010001 biolink:NamedThing cell cluster organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009013 biolink:NamedThing convulsive disorder, familial, with prenatal or early onset tmpaxzxjjyw_mondo_relaxed.owl convulsive disorder, familial, with prenatal or early onset MESH:C565678|UMLS:C1857575|OMIM:217200 owl:Class MONDO:0011105 biolink:NamedThing alacrima, congenital, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl alacrima, congenital, autosomal recessive OMIM:601549|Orphanet:91416|UMLS:C4012597 owl:Class MONDO:0019627 biolink:NamedThing isolated congenital alacrima Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic congenital alacrima SCTID:717262004|ICD10:Q10.6|Orphanet:91416|UMLS:C4273963|OMIM:103420|OMIM:601549 owl:Class MONDO:0016040 biolink:NamedThing harlequin syndrome Harlequin syndrome (HSD) is an autonomic disorder occurring at any age and characterized by unilateral flushing and sweating, involving the face and sometimes arm and chest, in condition of thermal, exercise or emotional stress without sympathetic ocular manifestations. However, tonic pupils, parasympathetic oculomotor lesion and pre- or postganglionic sudomotor sympathetic deficit can rarely occur. tmpaxzxjjyw_mondo_relaxed.owl unilateral loss of facial flushing and sweating with contralateral anhidrosis|progressive isolated segmental anhidrosis|sudden onset of unilateral flushing and sweating Orphanet:199282|SCTID:14070001000004105|GARD:0008610|ICD9:705.89|UMLS:C2029348|MESH:C535634|ICD10:G90.8 https://rarediseases.info.nih.gov/diseases/8610/harlequin-syndrome owl:Class MONDO:0009081 biolink:NamedThing deafness, congenital, with total albinism tmpaxzxjjyw_mondo_relaxed.owl deafness, congenital, with total albinism MESH:C565646|UMLS:C1857343|OMIM:220900 owl:Class GO:0010648 biolink:NamedThing negative regulation of cell communication Any process that decreases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018332 biolink:NamedThing multiple acyl-CoA dehydrogenase deficiency, severe neonatal type tmpaxzxjjyw_mondo_relaxed.owl MADD, severe neonatal type|glutaric aciduria type 2, severe neonatal type|MAD deficiency, severe neonatal type UMLS:CN205004|ICD10:E71.3|Orphanet:394529 owl:Class HP:0030972 biolink:NamedThing Abnormal systemic blood pressure A chronic deviation from normal pressure in the systemic arterial system. tmpaxzxjjyw_mondo_relaxed.owl Abnormal systemic BP 2017-04-18 13:55:40+00:00 robinp human_phenotype owl:Class MONDO:0009924 biolink:NamedThing vitamin D-dependent rickets, type 1 Hypocalcemic vitamin D-dependent rickets (VDDR-I) is an early-onset hereditary vitamin D metabolism disorder characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia. tmpaxzxjjyw_mondo_relaxed.owl 1 Alpha-hydroxylase deficiency|VDDI|pseudovitamin D-deficient rickets|VDDR1|hypocalcemic vitamin D-dependent rickets|vitamin D-dependent rickets type 1|1-alpha-hydroxylase deficiency|vitamin D-dependency type I|VDDR-I|vitamin D 1 Alpha-Hydroxylase deficiency|vitamin D dependency, type 1|selective 1-alpha, 25-hydroxyvitamin D3 deficiency|PDDRI|pseudo vitamin-D deficient rickets|vitamin D dependent rickets type I MESH:C562688|SCTID:67049004|NCIT:C131073|OMIM:264700|Orphanet:289157|ICD10:E55.0|OMIM:600081 owl:Class GO:0040013 biolink:NamedThing negative regulation of locomotion Any process that stops, prevents, or reduces the frequency, rate or extent of locomotion of a cell or organism. tmpaxzxjjyw_mondo_relaxed.owl downregulation of locomotion|inhibition of locomotion|down regulation of locomotion|down-regulation of locomotion owl:Class GO:0060341 biolink:NamedThing regulation of cellular localization Any process that modulates the frequency, rate or extent of a process in which a cell, a substance, or a cellular entity is transported to, or maintained in a specific location within or in the membrane of a cell. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular localisation owl:Class MONDO:0020061 biolink:NamedThing chromosome Y structural anomaly tmpaxzxjjyw_mondo_relaxed.owl 2022-04-01 Orphanet:98158|ICD10:Q98.6 Reason: grouping class. Term to consider: none owl:Class MONDO:0008864 biolink:NamedThing Biemond syndrome type 2 Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. tmpaxzxjjyw_mondo_relaxed.owl Biemond syndrome type 2|hypogonadism-short stature-coloboma-preaxial polydactyly syndrome|Biemond syndrome 2|BIEMOND syndrome II|iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly|iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly|BS2 OMIM:210350|Orphanet:141333|GARD:0000882|UMLS:C1859487|SCTID:717887003|MESH:C565902 Editor note: see also type 1, e.g. GARD:0000881 https://rarediseases.info.nih.gov/diseases/882/biemond-syndrome-2 owl:Class MONDO:0000218 biolink:NamedThing preimplantation embryonic lethality tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN282827|OMIMPS:616814 Editor note: this is a phenotypic feature rather than disease, consider obsoleting owl:Class MONDO:0010418 biolink:NamedThing hereditary spastic paraplegia 34 X-linked spastic paraplegia type 34 is a pure form of hereditary spastic paraplegia characterized by late childhood- to early adulthood-onset of slowly progressive spastic paraplegia with spastic gait and lower limb hyperreflexia, brisk tendon reflexes and ankle clonus. Lower limb pain and reduced lower limb vibratory sense is also reported in some older adult patients. tmpaxzxjjyw_mondo_relaxed.owl X-linked spastic paraplegia 34|X-linked spastic paraplegia type 34|spastic paraplegia 34, X-linked|hereditary spastic paraplegia type 34|SPG34 Orphanet:171607|OMIM:300750|MESH:C567465|SCTID:763370008|DOID:0110785|UMLS:C2677897|ICD10:G11.4 owl:Class MONDO:0009253 biolink:NamedThing Fryns syndrome Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations. tmpaxzxjjyw_mondo_relaxed.owl diaphragmatic hernia-abnormal face-distal limb anomalies syndrome|Moerman Van den Berghe Fryns syndrome|FRNS|diaphragmatic hernia, abnormal face, and distal limb anomalies|Fryns syndrome ICD10:Q87.8|OMIM:229850|MESH:C538070|UMLS:C0220730|NCIT:C98932|Orphanet:2059|SCTID:702432006|ICD9:759.89|GARD:0003699 https://rarediseases.info.nih.gov/diseases/3699/fryns-syndrome owl:Class MONDO:0002048 biolink:NamedThing thrombocytopenia due to immune destruction A general class of thrombocytopenia due to immune destruction of platelets. It includes idiopathic thrombocytopenic purpura, as well as immune destruction-related thrombocytopenias due to other reasons (e.g., AIDS, transfusion, lupus erythematosus). tmpaxzxjjyw_mondo_relaxed.owl thrombocytopenia due to immune destruction|immune thrombocytopenia|thrombocytopenia due to platelet alloimmunization|auto-immune thrombocytopenia NCIT:C3991|DOID:1587|GARD:0006768 owl:Class MONDO:0002049 biolink:NamedThing thrombocytopenia A laboratory test result indicating that there is an abnormally small number of platelets in the circulating blood. tmpaxzxjjyw_mondo_relaxed.owl thrombocytopenic disorder|platelet count decreased DOID:1588|OMIM:612004|UMLS:CN130080|MESH:D013921|OMIM:188000|OMIM:313900|Orphanet:852|NCIT:C3408|OMIM:273900|UMLS:C0040034|ICD10:D69.6|OMIM:300367|ICD9:287.5|SCTID:302215000 owl:Class MONDO:0007710 biolink:NamedThing facial hemiatrophy Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved. tmpaxzxjjyw_mondo_relaxed.owl PHA|parry-Romberg syndrome|hemifacial atrophy|hemifacial atrophy, progressive|progressive facial hemiatrophy|progressive hemifacial atrophy|Romberg hemi-facial atrophy|HFA|Romberg syndrome ICD10:G51.8|NCIT:C84703|DOID:1757|OMIM:141300|NCIT:C116916|UMLS:C0015458|SCTID:718224004|GARD:0007338|Orphanet:1214|MESH:D005150 owl:Class HGNC:6186 biolink:NamedThing IVD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017726 biolink:NamedThing Tay-Sachs disease, b variant, adult form tmpaxzxjjyw_mondo_relaxed.owl GM2 gangliosidosis, B variant, adult form|hexosaminidase A deficiency, adult form Orphanet:309192|UMLS:C1848914|ICD10:E75.0 owl:Class MONDO:0013004 biolink:NamedThing hypotonia, seizures, and precocious puberty tmpaxzxjjyw_mondo_relaxed.owl hypotonia, seizures, and precocious puberty MESH:C567566|UMLS:C2748586|OMIM:612777 owl:Class MONDO:0017987 biolink:NamedThing syringomyelia Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS). tmpaxzxjjyw_mondo_relaxed.owl hydromyelia MedDRA:10042928|DOID:327|NCIT:C85179|Orphanet:3280|ICD10:Q06.4|SCTID:111496009|UMLS:C0039144|OMIM:186700|GARD:0007725|ICD10:G95.0|MESH:D013595 https://rarediseases.info.nih.gov/diseases/7725/syringomyelia owl:Class HGNC:7715 biolink:NamedThing NDUFS8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015175 biolink:NamedThing autoimmune pancreatitis Autoimmune pancreatitis (AIP) is a rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type 1 AIP which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 AIP which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels. tmpaxzxjjyw_mondo_relaxed.owl lymphoplasmocytic sclerosing pancreatitis|AIP ICD10:K86.1|SCTID:448542008|MedDRA:10069002|DOID:0040091|Orphanet:103919|GARD:0010911|UMLS:C2609129 owl:Class MONDO:0016947 biolink:NamedThing partial duplication of the short arm of chromosome 10 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome 10p|partial trisomy of the short arm of chromosome 10|partial duplication of chromosome 10p Orphanet:262776 owl:Class MONDO:0016931 biolink:NamedThing partial duplication of chromosome 10 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome 10 Orphanet:262648|SCTID:726349006 owl:Class CHEBI:36841 biolink:NamedThing 11-hydroxy steroid tmpaxzxjjyw_mondo_relaxed.owl 11-hydroxy steroids owl:Class CHEBI:35350 biolink:NamedThing hydroxy steroid tmpaxzxjjyw_mondo_relaxed.owl Hydroxysteroid|hydroxysteroids|hydroxy steroids owl:Class UBERON:0007773 biolink:NamedThing scrotal sweat gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015420 biolink:NamedThing ureteral valve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020110 biolink:NamedThing pulmonary agenesis An uncommon congenital abnormality characterized by either lethal complete absence of the lungs or varying degrees of underdevelopment of the lung parenchyma. It may be associated with other congenital abnormalities. tmpaxzxjjyw_mondo_relaxed.owl unilateral lobar pulmonary agenesis|unilateral lung agenesis|congenital absence of lung|congenital lung agenesis SCTID:66489009|NCIT:C99028|ICD10:Q33.3|UMLS:C0265780|Orphanet:984|GARD:0009119|ICD9:748.5|MedDRA:10037322 owl:Class MONDO:0013831 biolink:NamedThing keratoconus 6 tmpaxzxjjyw_mondo_relaxed.owl KTCN6|keratoconus 6 OMIM:614623|UMLS:C3553306 owl:Class UBERON:0012489 biolink:NamedThing muscle layer of colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036253 biolink:NamedThing orifice of skull tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021028 biolink:NamedThing genetic nail anomaly An instance of nail anomaly that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic nail anomaly Orphanet:183454 owl:Class MONDO:0005851 biolink:NamedThing Miller Fisher syndrome An autoimmune process characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. tmpaxzxjjyw_mondo_relaxed.owl cranial variant of Guillain-Barré syndrome|syndrome, Miller Fisher|syndrome, Miller-Fisher|Fisher's syndrome|Guillain-Barre syndrome, Miller Fisher variant|Miller-Fisher variant of Guillain-Barre syndrome|cranial variant of Guillain-Barre syndrome|Miller-Fisher syndrome|Miller Fisher variant of Guillain Barre syndrome|cranial variant of GBS|Fisher syndrome|syndrome, Fisher|ophthalmoplegia, ataxia and areflexia syndrome|Guillain Barre syndrome, Miller Fisher variant NCIT:C116958|MedDRA:10049567|GARD:0003668|EFO:0007371|DOID:12889|Orphanet:98919|ICD10:G61.0|UMLS:C0393799|SCTID:1767005|MESH:D019846 owl:Class MONDO:0002427 biolink:NamedThing cerebellar disorder Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia. tmpaxzxjjyw_mondo_relaxed.owl cerebellum disease or disorder|disorder of cerebellum|disease or disorder of cerebellum|disease of cerebellum|cerebellum disease UMLS:C0007760|SCTID:223176004|MESH:D002526|DOID:2786 owl:Class HGNC:11535 biolink:NamedThing TAF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6654 biolink:NamedThing LMX1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class NBO:0000010 biolink:NamedThing reproductive behavior Behavior directly related to the production of offspring [NBO:AC] tmpaxzxjjyw_mondo_relaxed.owl reproductive behaviour|reproduction owl:Class MONDO:0024540 biolink:NamedThing Jervell and Lange-Nielsen syndrome 1 Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene. tmpaxzxjjyw_mondo_relaxed.owl Surdo-Cardiac syndrome|KCNQ1 Jervell and Lange-Nielsen syndrome|Jervell and Lange-Nielsen syndrome 1|deafness, congenital, and functional heart disease|Cardioauditory syndrome of Jervell and Lange-Nielsen|Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1|JLNS1|prolonged QT interval in Ekg and sudden death OMIM:220400|UMLS:C0022387|UMLS:CN034131|Orphanet:90647|Orphanet:768 owl:Class HGNC:4455 biolink:NamedThing GPD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009080 biolink:NamedThing split hand-foot malformation 1 with sensorineural hearing loss Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl split hand-foot malformation 1 with sensorineural hearing loss|split hand-split foot-deafness syndrome|congenital deafness with split hands and feet|deafness, congenital, with split hands and feet|split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive|SHFM1D DOID:0090024|MESH:C565647|UMLS:C1857344|Orphanet:71271|SCTID:723611008|ICD10:Q87.2|OMIM:220600 DO classifies under split hand-foot malformation, but we enforce disjointness between syndromes and features owl:Class MONDO:0010590 biolink:NamedThing FG syndrome 1 Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|Keller syndrome|FG syndrome caused by mutation in MED12|FG syndrome type 1|MED12 FG syndrome|FG syndrome|OKS|Opitz-Kaveggia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|FG syndrome 1 UMLS:C0220769|Orphanet:323|OMIM:305450|Orphanet:93932 owl:Class MONDO:0006498 biolink:NamedThing adenomatous colon polyp A polypoid adenoma that arises from and protrudes into the lumen of the colon. Epithelial dysplasia is always present. According to the architectural pattern it is classified as tubular, tubulovillous, or villous. tmpaxzxjjyw_mondo_relaxed.owl adenomatous polyp of the colon|colonic adenomatous polyp|colon adenomatous polyp|adenomatous polyp of colon NCIT:C96479|SCTID:428054006|HP:0005227|EFO:1000633 owl:Class MONDO:0004889 biolink:NamedThing total central choroidal atrophy tmpaxzxjjyw_mondo_relaxed.owl choroidal dystrophy, serpiginous|helicoid choroid dystrophy|total central dystrophy of choroid|central gyrate choroidal dystrophy|total central choroid atrophy|total central choroidal atrophy UMLS:C0154898|ICD9:363.54|SCTID:392049002|DOID:9820 owl:Class HGNC:3642 biolink:NamedThing FDXR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009950 biolink:NamedThing pyruvate kinase deficiency of red cells Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia. tmpaxzxjjyw_mondo_relaxed.owl pyruvate kinase deficiency of erythrocyte|pyruvate kinase deficiency|pyruvate kinase deficiency of red cells|hemolytic anemia due to red cell pyruvate kinase deficiency|PK deficiency|Pk deficiency|pyruvate kinase deficiency of erythrocytes|hemolytic Anemia due to pyruvate Kinase deficiency ICD10:D55.2|DOID:0111077|OMIM:266200|NCIT:C99037|MESH:C564858|SCTID:124331002|UMLS:C0340968|Orphanet:766|GARD:0007514 owl:Class MONDO:0100409 biolink:NamedThing acute myeloid leukemia, t(3;5)(q25;q34) Any acute myeloid leukemia that has the chromosomal anomaly t(3;5)(q25;q34). (A cytogenetic abnormality that refers to the translocation of the long arm (q25) of chromosome 3 and the long arm (q34) of chromosome 5. It is associated with the development of acute myeloid leukemia arising from myelodysplastic syndrome, acute myeloid leukemia with multilineage dysplasia, and acute myeloid leukemia with myelodysplasia-related changes.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(3;5)(q25;q34) NCIT:C7600|NCIT:C36415 owl:Class ECTO:9000364 biolink:NamedThing exposure to tetracycline An exposure to tetracycline. tmpaxzxjjyw_mondo_relaxed.owl exposure to tetracycline owl:Class ECTO:9000026 biolink:NamedThing exposure to alcohol An exposure to alcohol. tmpaxzxjjyw_mondo_relaxed.owl exposure to alcohol owl:Class MONDO:0024431 biolink:NamedThing bilirubin metabolism disease tmpaxzxjjyw_mondo_relaxed.owl disorder of bilirubin metabolism SCTID:80006005 owl:Class UBERON:0001201 biolink:NamedThing serosa of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024291 biolink:NamedThing vascular malformation A non-neoplastic disorder that is the result of defects of vascular morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl vascular malformation|malformations, vascular|malformation, vascular MESH:D054079 The majority are present at birth. Some can be acquired. owl:Class MONDO:0019582 biolink:NamedThing self-healing papular mucinosis Self-healing papular mucinosis is a rare form of localized lichen myxedematosus occurring primarily in children and characterized by the development of mucinous papules on various parts of the body (face, neck, trunk, and limbs) that resolve spontaneously within some weeks to months. Systemic symptoms can be observed such as fever, arthralgias and weakness. tmpaxzxjjyw_mondo_relaxed.owl ICD10:L98.5|Orphanet:90397 owl:Class MONDO:0007483 biolink:NamedThing dyschromatosis symmetrica hereditaria Acropigmentation of Dohi is a genodermatosis characterised by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs. tmpaxzxjjyw_mondo_relaxed.owl reticulate acropigmentation of Dohi|familial reticulate acropigmentation of Dohi|dyschromatosis symmetrica hereditaria|dyschromatosis symmetrica hereditaria 1|DSH1|DSH|RAD|acropigmentation of Dohi|symmetric dyschromatosis of the extremities UMLS:C0406775|OMIM:127400|Orphanet:41|MESH:C535729|NCIT:C118435|EFO:0008878|DOID:0060257|SCTID:239085000|GARD:0000334|ICD10:L81.8 owl:Class HGNC:11071 biolink:NamedThing SLC9A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012241 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene. tmpaxzxjjyw_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3|TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia, autosomal dominant 3|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK|PEOA3 UMLS:C1836439|DOID:0111520|OMIM:609286|Orphanet:254892|MESH:C563747 owl:Class MONDO:0005164 biolink:NamedThing fibrosarcoma A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone. tmpaxzxjjyw_mondo_relaxed.owl fibrosarcoma - not infantile|fibrosarcoma of soft tissue|fibrous tissue neoplasm|fibrocytic tumor|malignant fibromatous neoplasm|fibrosarcoma (disease)|fibrosarcoma (excluding infantile fibrosarcoma)|fibrosarcoma|fibrosarcoma, malignant fibrosarcoma (disease) SCTID:443250000|DOID:3355|UMLS:C0016057|ICD9:171.9|EFO:0002087|HP:0100244|OMIM:117600|ONCOTREE:FIBS|NCIT:C7075|Orphanet:2030|ICDO:8810/3|NCIT:C3043|ICD10:C49.9|GARD:0002327|MedDRA:10016632 owl:Class CHEBI:13850 biolink:NamedThing apoprotein An apoprotein is a protein devoid of its characteristic prosthetic group or metal. tmpaxzxjjyw_mondo_relaxed.owl apoprotein|apoproteins owl:Class CHEBI:38560 biolink:NamedThing simple protein tmpaxzxjjyw_mondo_relaxed.owl simple proteins owl:Class MONDO:0002553 biolink:NamedThing cerebellopontine angle tumor A neoplasm that affects the cerebellopontine angle. Representative examples include vestibular schwannoma and meningioma. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the C-P angle|tumor of cerebellopontine angle|tumor of the cerebellar Pontine angle|tumor of the C-P angle|neoplasm of the cerebellopontine angle|tumor of the cerebellopontine angle|neoplasm of the cerebellar Pontine angle|cerebellopontine angle tumor|neoplasm of cerebellopontine angle|cerebellar Pontine angle neoplasm|cerebellopontine angle neoplasm|neoplasm of C-P angle|C-P angle tumor|neoplasm of cerebellar Pontine angle|tumor of C-P angle|C-P angle neoplasm|cerebellar Pontine angle tumor|cerebellopontine angle neoplasm (disease)|tumor of cerebellar Pontine angle SCTID:126947009|DOID:3200|NCIT:C5414 owl:Class MONDO:0010664 biolink:NamedThing syndromic X-linked intellectual disability Snyder type Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed. tmpaxzxjjyw_mondo_relaxed.owl MRXSSR|Snyder-Robinson syndrome|intellectual disability, X-linked, syndromic, Snyder-Robinson type|X-linked intellectual disability, Snyder type|spermine synthase deficiency|SRS|X-linked intellectual disability Snyder-Robinson type|syndromic X-linked intellectual disability Snyder type|Snyder-Robinson intellectual disability syndrome|X-linked mental retardation Snyder-Robinson type|intellectual disability, X-linked, Snyder-Robinson type|Snyder-Robinson mental retardation syndrome|mental retardation, X-linked, syndromic, Snyder-Robinson type|mental retardation, X-linked, Snyder-Robinson type Orphanet:3063|OMIM:309583|UMLS:C0796160|MESH:C536678|DOID:0060802|SCTID:702416008|ICD9:758.89|GARD:0005615|ICD10:Q87.8 owl:Class MONDO:0017746 biolink:NamedThing atypical Rett syndrome Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT). tmpaxzxjjyw_mondo_relaxed.owl Rett like syndrome|Rett syndrome variant|atypical RTT OMIM:613454|UMLS:C2748910|OMIM:300672|SCTID:718393002|ICD10:F84.2|GARD:0004694|OMIM:312750|Orphanet:3095 owl:Class UBERON:0012378 biolink:NamedThing muscle layer of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:24866 biolink:NamedThing salt A salt is an assembly of cations and anions. tmpaxzxjjyw_mondo_relaxed.owl sels|ionic compounds|sel|salts|sales|salt|Salze|ionic compound|sal|Salz owl:Class CHEBI:37577 biolink:NamedThing heteroatomic molecular entity A molecular entity consisting of two or more chemical elements. tmpaxzxjjyw_mondo_relaxed.owl chemical compound|heteroatomic molecular entities owl:Class HGNC:5394 biolink:NamedThing CFI tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:494 biolink:NamedThing ANK3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024892 biolink:NamedThing soft tissue amyloid neoplasm A soft tissue neoplasm composed of acellular amyloid material. tmpaxzxjjyw_mondo_relaxed.owl amyloid tumor (morphologic abnormality)|soft tissue amyloid tumor|soft tissue amyloid neoplasm|amyloid neoplasm|amyloid tumor DOID:6755|NCIT:C8323|UMLS:C0333572|ICD9:714.32|UMLS:C1706802 owl:Class HP:0002435 biolink:NamedThing Meningocele Protrusion of the meninges through a defect of the vertebral column. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:171131006|MSH:D008588|UMLS:C0025299 human_phenotype owl:Class HP:0010651 biolink:NamedThing Abnormal meningeal morphology An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the meninges UMLS:C4023758 peter 2010-02-25T10:19:40Z human_phenotype owl:Class MONDO:0017012 biolink:NamedThing partial duplication of the short arm of chromosome 1 tmpaxzxjjyw_mondo_relaxed.owl partial duplication of chromosome 1p|partial duplication of the short arm of chromosome type 1|partial trisomy of chromosome 1p Orphanet:264431 owl:Class UBERON:0006190 biolink:NamedThing mesonephric distal tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000976 biolink:NamedThing paratesticular lipoma A rare benign adipose tissue neoplasm of the paratesticular tissues. It is incidentally discovered and presents as a non-tender scrotal mass. It affects patients over a wide age range. tmpaxzxjjyw_mondo_relaxed.owl paratesticular lipoma DOID:10207|UMLS:C1335348|NCIT:C6384 owl:Class HGNC:11110 biolink:NamedThing ARID1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001403 biolink:NamedThing labium majus cancer A malignant neoplasm involving the labium majora. tmpaxzxjjyw_mondo_relaxed.owl malignant labia majora tumor|malignant labium majora neoplasm|malignant labia majora neoplasm|malignant tumor of the labia majora|labium majora cancer|malignant neoplasm of labia majora|malignant tumor of labia majora|malignant neoplasm of the labia majora|malignant neoplasm of labium majora|cancer of labium majora NCIT:C7638|ICD10:C51.0|SCTID:363446004|DOID:11905|UMLS:C0496814|ICD9:184.1 owl:Class HGNC:10471 biolink:NamedThing RUNX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018854 biolink:NamedThing acquired purpura fulminans A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. PF may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of PF that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic PF. tmpaxzxjjyw_mondo_relaxed.owl acquired PF|acquired purpura fulminans Orphanet:49566|UMLS:C4510896|ICD10:D65|MedDRA:10037556|SCTID:725157006|UMLS:CN205163 owl:Class NCBITaxon:2497571 biolink:NamedThing Polyploviricotina tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2497569 biolink:NamedThing Negarnaviricota tmpaxzxjjyw_mondo_relaxed.owl Negative-strand RNA viruses GC_ID:1 ncbi_taxonomy owl:Class HGNC:6619 biolink:NamedThing LIPC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017211 biolink:NamedThing infectious panuveitis tmpaxzxjjyw_mondo_relaxed.owl ICD10:H44.1|Orphanet:279925 owl:Class MONDO:0008853 biolink:NamedThing Barber-Say syndrome Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia. tmpaxzxjjyw_mondo_relaxed.owl Barber Say syndrome|BBRSAY|Bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|BARBER-SAY syndrome|Barber-Say syndrome|hypertrichosis atrophic skin ectropion macrostomia|hypertrichosis, atrophic skin, ectropion, and macrostomia ICD10:Q87.0|MESH:C537908|OMIM:209885|UMLS:C1319466|SCTID:408537003|Orphanet:1231|GARD:0000819|DOID:0060549 https://rarediseases.info.nih.gov/diseases/819/barber-say-syndrome owl:Class MONDO:0020154 biolink:NamedThing microblepharon-ablephara syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237783|Orphanet:98563|ICD10:Q10.3 owl:Class MONDO:0100055 biolink:NamedThing intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements Intraosseous spindle cell rhabdomyosarcoma characterized by the fusion of the EWSR1 or FUS gene with the TFCP2 gene, or the MEIS1 gene with the NCOA2 gene. tmpaxzxjjyw_mondo_relaxed.owl intraosseous rhabdomyosarcoma with FUS-TFCP2 fusion|intraosseous rhabdomyosarcoma defined by FUS-TFCP2 fusion NCIT:C178236 http://orcid.org/0000-0001-5208-3432 owl:Class HP:0011799 biolink:NamedThing Abnormality of facial soft tissue tmpaxzxjjyw_mondo_relaxed.owl Abnormality of facial soft tissue|Anomaly of facial soft tissue|Deformity of facial soft tissue|Malformation of facial soft tissue UMLS:C4023183 peter 2012-04-23T07:27:57Z human_phenotype owl:Class MONDO:0010891 biolink:NamedThing lethal hemolytic anemia-genital anomalies syndrome Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin. tmpaxzxjjyw_mondo_relaxed.owl water-West syndrome|hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities|hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities MESH:C563935|GARD:0002642|UMLS:C1838120|ICD10:D58.8|Orphanet:1046|OMIM:600461 owl:Class HGNC:26300 biolink:NamedThing ODAPH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010941 biolink:NamedThing nocturnal enuresis, 2 Nocturnal enuresis where the child has been dry for at least 6 months but enuresis has recurred. tmpaxzxjjyw_mondo_relaxed.owl ENUR2|enuresis, nocturnal, 2 UMLS:C1833268|MESH:C563439|OMIM:600808 owl:Class UBERON:0003336 biolink:NamedThing serosa of duodenum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033047 biolink:NamedThing Perrault syndrome 6 tmpaxzxjjyw_mondo_relaxed.owl PRLTS6|Perrault syndrome 6 UMLS:C4479656|OMIM:617565|DOID:0080256|Orphanet:2855 owl:Class MONDO:0022609 biolink:NamedThing bronchial adenomas/carcinoids childhood tmpaxzxjjyw_mondo_relaxed.owl bronchial carcinoids UMLS:C4013426|GARD:0009313 https://rarediseases.info.nih.gov/diseases/9313/bronchial-adenomascarcinoids-childhood owl:Class UBERON:0000078 biolink:NamedThing mixed ectoderm/mesoderm/endoderm-derived structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054742 biolink:NamedThing combined oxidative phosphorylation deficiency 35 tmpaxzxjjyw_mondo_relaxed.owl COXPD35|combined oxidative phosphorylation deficiency 35 DOID:0111464|OMIM:617873|UMLS:CN807948 owl:Class HP:0000234 biolink:NamedThing Abnormality of the head An abnormality of the head. tmpaxzxjjyw_mondo_relaxed.owl Abnormal head|Abnormality of the head|Head abnormality UMLS:C4021812 human_phenotype owl:Class HGNC:11180 biolink:NamedThing SOD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010588 biolink:NamedThing exudative vitreoretinopathy 2, X-linked Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene. tmpaxzxjjyw_mondo_relaxed.owl exudative vitreoretinopathy 2, X-linked|Fevr, X-linked|Evrx|exudative vitreoretinopathy, familial, 2|EVR2|NDP exudative vitreoretinopathy|exudative vitreoretinopathy caused by mutation in NDP DOID:0111413|UMLS:C1844579|OMIM:305390|Orphanet:891|MESH:C564428 owl:Class MONDO:0015689 biolink:NamedThing myeloid neoplasm associated with PDGFRA rearrangement A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRA gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic eosinophilic leukemia or, less commonly, as acute myeloid leukemia or T-lymphoblastic leukemia with eosinophilia. Patients usually present with eosinophilia, anemia, thrombocytopenia, neutrophilia, splenomegaly, lymphadenopathy, fever, sweating and/or weight loss. Tissue infiltration by eosinophils can manifest with skin rash, erythema, cough, neurological alterations, gastrointestinal symptoms or, rarely, endomyocardial fibrosis and restrictive cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl myeloid and lymphoid neoplasms with PDGFRA rearrangement|myeloid/lymphoid neoplasms with PDGFRA rearrangement|myeloid/lymphoid neoplasm associated with PDGFRA rearrangement|myeloid and lymphoid neoplasms associated with PDGFRA rearrangement NCIT:C84275|UMLS:C4545381|Orphanet:168947|DOID:0080165|ICDO:9965/3|UMLS:C2827360|ICD10:D47.1|ONCOTREE:MLNPDGFRA|SCTID:738527001 owl:Class CL:0000941 biolink:NamedThing thymic conventional dendritic cell A dendritic cell arising in thymus that has the phenotype CD11c-positive, CD11b-negative, and CD45RA-negative. tmpaxzxjjyw_mondo_relaxed.owl In the mouse this cell expresses CD8-alpha-alpha. cell owl:Class NCBITaxon:41665 biolink:NamedThing Neopterygii tmpaxzxjjyw_mondo_relaxed.owl Neopterygi GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:186623 biolink:NamedThing Actinopteri tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001653 biolink:NamedThing facial vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0035004 biolink:NamedThing serine biosynthesis pathway deficiency, infantile/juvenile form tmpaxzxjjyw_mondo_relaxed.owl Orphanet:583595 owl:Class UBERON:0015035 biolink:NamedThing pedal digit 5 phalanx endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0062012 biolink:NamedThing regulation of small molecule metabolic process Any process that modulates the rate, frequency or extent of a small molecule metabolic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of small molecule metabolism owl:Class UBERON:0003692 biolink:NamedThing acromioclavicular joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905706 biolink:NamedThing regulation of mitochondrial ATP synthesis coupled proton transport Any process that modulates the frequency, rate or extent of mitochondrial ATP synthesis coupled proton transport. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019134 biolink:NamedThing central neurocytoma Central neurocytoma is a very rare brain tumor of young adults (over 100 cases reported worldwide). It is typically found in the lateral ventricles and occasionally in the third ventricle. Symptoms are those of increased intracranial pressure: headache, nausea and vomiting, drowsiness, vision problems and mental changes. Total removal of the tumor is the therapy of choice. Post-operative prognosis is generally good. tmpaxzxjjyw_mondo_relaxed.owl CNC|central neurocytoma (WHO grade II)|Neurolipocytoma ONCOTREE:CNC|UMLS:C0206719|ICDO:9506/1|NCIT:C3791|Orphanet:73256|DOID:14174|GARD:0010641|MESH:D018306|EFO:1000856 https://rarediseases.info.nih.gov/diseases/10641/central-neurocytoma owl:Class MONDO:0011959 biolink:NamedThing sweet syndrome Sweet's syndrome (the eponym for acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include fever, neutrophilia, tender erythematous skin lesions (papules, nodules, and plaques), and a diffuse infiltrate consisting predominantly of mature neutrophils that are typically located in the upper dermis. tmpaxzxjjyw_mondo_relaxed.owl Afnd|acute febrile neutrophilic dermatosis|neutrophilic dermatosis, acute febrile|Gomm button disease|sweet syndrome|Gomm-button disease OMIM:608068|ICD10:L98.2|MESH:D016463|ICD9:702.8|UMLS:C0085077|SCTID:84625002|NCIT:C85177|MedDRA:10000748|Orphanet:3243|GARD:0000521 owl:Class MONDO:0003193 biolink:NamedThing bile duct adenocarcinoma A carcinoma that arises from glandular epithelial cells of the bile duct tmpaxzxjjyw_mondo_relaxed.owl bile duct adenocarcinoma UMLS:C1370800|DOID:4896|NCIT:C27813 owl:Class MONDO:0006952 biolink:NamedThing retinopathy of prematurity A bilateral retinopathy characterized by neovascularization, scarring, retinal detachment, and eventually blindness. It may be mild or severe. It occurs in babies born prematurely. Causes include oxygen toxicity and hypoxia. tmpaxzxjjyw_mondo_relaxed.owl ROP|premature retinopathy|Terry syndrome|retrolental fibroplasia ICD9:362.20|UMLS:C0035344|GARD:0005695|EFO:1001158|OMIM:133780|ICD10:H35.17|ICD10:H35.1|NCIT:C34982|MESH:D012178|SCTID:415297005|ICD9:362.21|MedDRA:10038933|Orphanet:90050|ICD10:H35.10|DOID:13025 owl:Class NCBITaxon:241475 biolink:NamedThing Dioctophymatoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2044726 biolink:NamedThing Dioctophymatida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class PATO:0001291 biolink:NamedThing electromagnetic (EM) radiation quality A physical quality that inheres in an bearer by virtue of how that bearer interacts with electromagnetic radiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002868 biolink:NamedThing bile duct mucinous cystic neoplasm with an associated invasive carcinoma A mucinous cystic neoplasm that arises from the intrahepatic or extrahepatic bile ducts and it is associated with an invasive carcinomatous component. tmpaxzxjjyw_mondo_relaxed.owl biliary cystadenocarcinoma|bile duct cystadenocarcinoma (morphologic abnormality)|cystadenocarcinoma of the bile duct|bile duct mucinous cystic neoplasm with an associated invasive carcinoma|bile duct cystadenocarcinoma|cystadenocarcinoma of bile duct DOID:4075|NCIT:C4130|UMLS:C0334286|ICDO:8161/3 Editor note: adenocarcinoma and adenoma are disjoint in MONDO, we represent carcinoma as a distint component owl:Class HP:0011354 biolink:NamedThing Generalized abnormality of skin An abnormality of the skin that is not localized to any one particular region. tmpaxzxjjyw_mondo_relaxed.owl Generalised abnormality of skin|Generalized abnormality of skin UMLS:C4021157 peter 2012-03-01T01:55:07Z human_phenotype owl:Class MONDO:0004103 biolink:NamedThing tall cell variant thyroid gland papillary carcinoma A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. Necrotic changes and high mitotic activity are present. tmpaxzxjjyw_mondo_relaxed.owl tall cell variant papillary carcinoma|tall cell variant thyroid gland papillary carcinoma UMLS:C1336695|DOID:7089|NCIT:C35558 owl:Class MONDO:0017905 biolink:NamedThing X-linked mendelian susceptibility to mycobacterial diseases X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKBKG) or the cytochrome b-245, beta polypeptide (CYBB) genes. They are characterized by mycobacterial infections, occuring in males. tmpaxzxjjyw_mondo_relaxed.owl mendelian susceptibility to mycobacterial diseases, X-linked|X-linked MSMD OMIM:300636|OMIM:300645|SCTID:719814009|ICD10:D84.8|UMLS:C4304413|UMLS:CN203967|Orphanet:319605 owl:Class MONDO:0018654 biolink:NamedThing idiopathic dropped head syndrome tmpaxzxjjyw_mondo_relaxed.owl isolated neck extensor myopathy Orphanet:447881|UMLS:CN237712 owl:Class MONDO:0001084 biolink:NamedThing primary optic atrophy tmpaxzxjjyw_mondo_relaxed.owl ICD9:377.11|SCTID:21098003|UMLS:C0155291|ICD10:H47.21|DOID:10627 owl:Class ECTO:9001694 biolink:NamedThing exposure to antibacterial agent An exposure to antibacterial agent. tmpaxzxjjyw_mondo_relaxed.owl exposure to antibacterial agent owl:Class GO:0035148 biolink:NamedThing tube formation Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. tmpaxzxjjyw_mondo_relaxed.owl lumen formation in an anatomical structure|tube lumen formation owl:Class MONDO:0032566 biolink:NamedThing squalene synthase deficiency tmpaxzxjjyw_mondo_relaxed.owl SQSD|Neurodevelopmental Disorder With Low Cholesterol and Abnormal Urine Organic Acids|SQUALENE SYNTHASE DEFICIENCY OMIM:618156 owl:Class CL:0002680 biolink:NamedThing PP cell of intestine A PP cell found in intestine. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-09-27T11:59:01Z cell owl:Class GO:0003677 biolink:NamedThing DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). tmpaxzxjjyw_mondo_relaxed.owl structure-specific DNA binding|structure specific DNA binding|plasmid binding|microtubule/chromatin interaction owl:Class GO:0003676 biolink:NamedThing nucleic acid binding Binding to a nucleic acid. tmpaxzxjjyw_mondo_relaxed.owl base pairing owl:Class HsapDv:0000125 biolink:NamedThing 31-year-old human stage Adult stage that refers to an adult who is over 31 and under 32. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035048 biolink:NamedThing parotid gland excretory duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2001141 biolink:NamedThing regulation of RNA biosynthetic process Any process that modulates the frequency, rate or extent of RNA biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of RNA biosynthesis|regulation of RNA anabolism|regulation of RNA synthesis|regulation of RNA formation owl:Class MONDO:0004795 biolink:NamedThing otitis externa Inflammation of the anatomical structures of the outer ear and ear canal secondary to an infectious process. Bacterial etiology is most common, but fungal infection is also possible. Symptoms include erythema, edema, and pain. tmpaxzxjjyw_mondo_relaxed.owl otitis externa|outer Ear infection|infectious otitis externa|swimmer's Ear|external Ear infection|swimmer's ear MESH:D010032|ICD9:380.1|ICD9:380.10|NCIT:C3299|SCTID:3135009|DOID:9463|ICD10:H60 owl:Class MONDO:0020702 biolink:NamedThing autosomal dominant epidermolytic ichthyosis tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29605 biolink:NamedThing SH2B3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002105 biolink:NamedThing CD38-positive IgG memory B cell A CD38-positive IgG memory B cell is a class switched memory B cell that expresses IgG on the cell surface with the phenotype CD38-positive and IgG-positive. tmpaxzxjjyw_mondo_relaxed.owl CD38+ IgG memory B lymphocyte|CD38+ IgG memory B cell|CD38-positive IgG memory B-cell|CD38-positive IgG memory B-lymphocyte|CD38+ IgG memory B-cell|CD38-positive IgG memory B lymphocyte|CD38+ IgG memory B-lymphocyte cell owl:Class CL:0000979 biolink:NamedThing IgG memory B cell An IgG memory B cell is a class switched memory B cell that is class switched and expresses IgG on the cell surface. tmpaxzxjjyw_mondo_relaxed.owl memory IgG B-cell|IgG memory B-cell|IgG memory B lymphocyte|IgG memory B-lymphocyte|memory IgG B cell|memory IgG B lymphocyte|memory IgG B-lymphocyte cell owl:Class MONDO:0001182 biolink:NamedThing idiopathic corneal edema tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155109|ICD9:371.21|DOID:11033|ICD10:H18.22|SCTID:1794009 owl:Class HGNC:21698 biolink:NamedThing RNF216 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019900 biolink:NamedThing non-distal monosomy 12q tmpaxzxjjyw_mondo_relaxed.owl non-telomeric monosomy 12q|non-distal deletion 12q|non-distal monosomy type 12q ICD10:Q93.5|Orphanet:96160 owl:Class MONDO:0016877 biolink:NamedThing partial deletion of the long arm of chromosome 12 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 12q|partial deletion of chromosome 12q|partial monosomy of the long arm of chromosome 12|partial deletion of the long arm of chromosome type 12 Orphanet:261821|ICD10:Q93.5 owl:Class MONDO:0018120 biolink:NamedThing disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN227267|Orphanet:352312 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited lipid metabolism disorder' MONDO_0002525 owl:Class MONDO:0013687 biolink:NamedThing autosomal recessive spinocerebellar ataxia 12 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 12|SCAR12|spinocerebellar ataxia, autosomal recessive type 12|WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX|WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome|autosomal recessive spinocerebellar ataxia type 12|autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency|autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX|autosomal recessive spinocerebellar ataxia 12|spinocerebellar ataxia with mental retardation and epilepsy|spinocerebellar ataxia with intellectual disability and epilepsy DOID:0080060|OMIM:614322|ICD10:G11.1|Orphanet:284282|UMLS:C3280452 owl:Class MONDO:0018446 biolink:NamedThing autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:404481|UMLS:CN226191|ICD10:G11.1 owl:Class HGNC:12373 biolink:NamedThing TSHR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012064 biolink:NamedThing choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome. tmpaxzxjjyw_mondo_relaxed.owl Burn-McKeown syndrome|oculootofacial dysplasia|BMKS|bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance|choanal atresia deafness cardiac defects dysmorphism MESH:C563682|OMIM:608572|GARD:0010041|OMIM:616462|UMLS:C1835913|ICD10:Q87.8|Orphanet:1200 https://rarediseases.info.nih.gov/diseases/10041/choanal-atresia-hearing-loss-cardiac-defects-craniofacial-dysmorphism-syndrome owl:Class UBERON:0004040 biolink:NamedThing cortical intermediate zone tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17966 biolink:NamedThing CEP83 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001698 biolink:NamedThing tinea profunda A dermatophytosis that involves the deep dermal layers. tmpaxzxjjyw_mondo_relaxed.owl granuloma trichophyticum|deep seated dermatophytosis|Majocchi's granuloma SCTID:214600002|UMLS:C1279621|DOID:13368 owl:Class MONDO:0004678 biolink:NamedThing dermatophytosis A common fungal infection of the stratum corneum of the skin, hair, or nails by a dermatophyte. It is characterized by itching, inflammation, redness of the skin, small papular vesicles, central clearing, fissures, scaling, and/or hair loss in the affected area. tmpaxzxjjyw_mondo_relaxed.owl fungal skin diseases|ringworm|skin disease, fungal|skin diseases, fungal|dermatomycosis|fungal skin disease ICD9:110.9|UMLS:C0011636|DOID:8913|ICD9:110.8|ICD10:B35|ICD10:B35.9|SCTID:47382004|ICD9:110|NCIT:C26745 Editor note: check cutaneous vs superficial owl:Class MONDO:0045070 biolink:NamedThing digestive system melanoma A melanoma that arises from any part of the digestive system. tmpaxzxjjyw_mondo_relaxed.owl digestive system melanoma (disease)|melanoma (disease) of digestive system|digestive system melanoma|gastrointestinal melanoma NCIT:C7091|GARD:0010409|UMLS:C1333798 owl:Class CHEBI:18367 biolink:NamedThing phosphate(3-) A phosphate ion that is the conjugate base of hydrogenphosphate. tmpaxzxjjyw_mondo_relaxed.owl PO4(3-)|Phosphate|tetraoxophosphate(V)|tetraoxidophosphate(3-)|Orthophosphate|[PO4](3-)|PHOSPHATE ION|tetraoxophosphate(3-)|phosphate owl:Class GO:0043388 biolink:NamedThing positive regulation of DNA binding Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). tmpaxzxjjyw_mondo_relaxed.owl up regulation of DNA binding|stimulation of DNA binding|activation of DNA binding|up-regulation of DNA binding|upregulation of DNA binding owl:Class MONDO:0017073 biolink:NamedThing cervical spina bifida cystica tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268762 owl:Class MONDO:0019773 biolink:NamedThing myelomeningocele Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a persons head grows too big, and theymay have brain damage. Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect. tmpaxzxjjyw_mondo_relaxed.owl meningomyelocele ICD10:Q05.3|ICD10:Q05.8|ICD10:Q05.7|SCTID:414667000|EFO:1001369|ICD10:Q05|HP:0002475|MESH:D008591|ICD10:Q05.4|GARD:0003475|NCIT:C101201|DOID:0060326|Orphanet:93969|ICD10:Q05.0|ICD10:Q05.9|SCTID:203994003|ICD10:Q05.6|ICD10:Q05.2|ICD10:Q05.5|ICD10:Q05.1 https://rarediseases.info.nih.gov/diseases/3475/myelomeningocele owl:Class CHEBI:134179 biolink:NamedThing volatile organic compound Any organic compound having an initial boiling point less than or equal to 250 degreeC (482 degreeF) measured at a standard atmospheric pressure of 101.3 kPa. tmpaxzxjjyw_mondo_relaxed.owl volatile organic compounds|VOCs|VOC owl:Class UBERON:0001675 biolink:NamedThing trigeminal ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014728 biolink:NamedThing combined oxidative phosphorylation defect type 27 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency 27|combined oxidative phosphorylation deficiency caused by mutation in CARS2|combined oxidative phosphorylation deficiency type 27|COXPD27|CARS2 combined oxidative phosphorylation deficiency UMLS:C4225251|EFO:0009037|DOID:0111489|Orphanet:477774|OMIM:616672 owl:Class MONDO:0019294 biolink:NamedThing mixed dermis disorder tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227617|Orphanet:79380 Editor note: check if genetic owl:Class GO:0050891 biolink:NamedThing multicellular organismal water homeostasis Any process involved in the maintenance of an internal steady state of water within a tissue, organ, or a multicellular organism. tmpaxzxjjyw_mondo_relaxed.owl body fluid osmoregulation owl:Class MONDO:0025404 biolink:NamedThing coronaviral enteritis of turkeys An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a coronavirus. tmpaxzxjjyw_mondo_relaxed.owl coronaviral enteritis of turkeys|enteritis, transmissible, of turkeys|Bluecomb of turkeys|transmissible enteritis of turkeys UMLS:C0014342|MESH:D004753 owl:Class MONDO:0012566 biolink:NamedThing autism, susceptibility to, 11 tmpaxzxjjyw_mondo_relaxed.owl autism, susceptibility to, 11|AUTS11 OMIM:610836 owl:Class MONDO:0019953 biolink:NamedThing mega-cisterna magna tmpaxzxjjyw_mondo_relaxed.owl Orphanet:97252|ICD10:Q07.8 owl:Class MONDO:0007980 biolink:NamedThing metachromasia of fibroblasts tmpaxzxjjyw_mondo_relaxed.owl metachromasia of fibroblasts OMIM:156300 owl:Class MONDO:0003032 biolink:NamedThing superior vena cava angiosarcoma A malignant vascular neoplasm arising from the superior vena cava. tmpaxzxjjyw_mondo_relaxed.owl anterior vena cava angiosarcoma (disease)|angiosarcoma of the Superior vena cava|angiosarcoma (disease) of anterior vena cava|angiosarcoma of Superior vena cava NCIT:C5378|UMLS:C1336530|DOID:4522 owl:Class MONDO:0020698 biolink:NamedThing inborn error of biotin metabolism tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016179 biolink:NamedThing acquired amyloid peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209013 owl:Class UBERON:0010257 biolink:NamedThing 6th arch mesenchyme from neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:117570 biolink:NamedThing Teleostomi tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006810 biolink:NamedThing intracranial hypertension A finding characterized by increased cerebrospinal fluid pressure within the skull. tmpaxzxjjyw_mondo_relaxed.owl raised intracranial pressure MESH:D019586|UMLS:C0151740|MedDRA:10022764|EFO:1000992|DOID:9428|NCIT:C84791 owl:Class MONDO:0012113 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 9|EIG3|epilepsy, idiopathic generalized, susceptibility to, 3 OMIM:608762|DOID:0111318 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0008369 biolink:NamedThing proximal renal tubular acidosis Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis. tmpaxzxjjyw_mondo_relaxed.owl RTA, proximal type|RTA, rate type|Type 2 renal tubular acidosis|pRTA|renal tubular acidosis, proximal|renal tubular acidosis 2|renal tubular acidosis type 2|Type 2 RTA ICD10:N25.8|OMIM:604278|OMIM:179830|SCTID:24790002|ICD9:588.89|MedDRA:10037080|Orphanet:47159 owl:Class UBERON:0003560 biolink:NamedThing spinal cord arachnoid mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024645 biolink:NamedThing retroperitoneal neoplasm A benign or malignant neoplasm that affects the retroperitoneum. tmpaxzxjjyw_mondo_relaxed.owl retroperitoneal space neoplasm|retroperitoneal neoplasm|tumor of retroperitoneal space|retroperitoneal space tumor|neoplasm of retroperitoneal space NCIT:C3357 owl:Class MONDO:0022809 biolink:NamedThing Colver Steer Godman syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001448 https://rarediseases.info.nih.gov/diseases/1448/colver-steer-godman-syndrome owl:Class UBERON:0006210 biolink:NamedThing body-wall mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:9001628 biolink:NamedThing exposure to gas molecular entity An exposure to gas molecular entity. tmpaxzxjjyw_mondo_relaxed.owl exposure to gas molecular entity owl:Class MONDO:0003122 biolink:NamedThing striatonigral degeneration A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements. tmpaxzxjjyw_mondo_relaxed.owl OMIM:271930|OMIM:609161|SCTID:29618004|DOID:4751|UMLS:C0270733|NCIT:C125695|MESH:D020955|ICD10:G23.2|OMIMPS:271930|OMIM:500003|ICD9:333.0 owl:Class MONDO:0017024 biolink:NamedThing secondary interstitial lung disease specific to childhood associated with a metabolic disease tmpaxzxjjyw_mondo_relaxed.owl secondary ILD specific to childhood associated with a metabolic disease 2022-03-01 Orphanet:264719|UMLS:CN202337 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0010690 biolink:NamedThing congenital stationary night blindness 1A Any congenital stationary night blindness in which the cause of the disease is a mutation in the NYX gene. tmpaxzxjjyw_mondo_relaxed.owl hemeralopia-myopia|congenital stationary night blindness 1A|NYX congenital stationary night blindness|congenital stationary night blindness 1A X-linked|CSNB1A|congenital stationary night blindness with myopia|congenital stationary night blindness type 1A|myopia-night blindness|nyctalopia|night blindness, congenital stationary, type 1A|NBMI|CSNB, complete, X-linked|congenital stationary night blindness caused by mutation in NYX|night blindness, congenital stationary, with myopia|complete CSNB X-linked DOID:0110870|OMIM:310500|UMLS:C0028077|Orphanet:215 owl:Class MONDO:0044749 biolink:NamedThing X-linked congenital stationary night blindness X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus,and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There aretwo major types of XLCSNB: the complete form and the incomplete form. Bothtypes have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause. tmpaxzxjjyw_mondo_relaxed.owl congenital stationary night blindness, X-linked|XLCSNB|X-linked CSNB UMLS:CN043584|GARD:0003995|OMIM:310500 owl:Class MONDO:0042726 biolink:NamedThing macrogyria, pseudobulbar palsy and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl Kuzniecky Andermann syndrome GARD:0000174|UMLS:C2931598|MESH:C537722 owl:Class CL:0000745 biolink:NamedThing retina horizontal cell A neuron that laterally connects other neurons in the inner nuclear layer of the retina. tmpaxzxjjyw_mondo_relaxed.owl horizontal cell BTO:0004120 cell owl:Class MONDO:0001690 biolink:NamedThing parasitic conjunctivitis tmpaxzxjjyw_mondo_relaxed.owl ICD9:372.15|DOID:13341|SCTID:13816006|UMLS:C0155148 owl:Class MONDO:0009406 biolink:NamedThing hypertrichotic osteochondrodysplasia Cantu type Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl Craniofaciocardioskeletal syndrome|Cantu syndrome|hypertrichotic osteochondrodysplasia, Cantu type|hypertrichotic osteochondrodysplasia OMIM:239850|DOID:0060569|SCTID:239087008|ICD10:Q87.3|Orphanet:1517|GARD:0008585|MESH:C535572|UMLS:C0795905 https://rarediseases.info.nih.gov/diseases/8585/cantu-syndrome owl:Class MONDO:0003278 biolink:NamedThing inner ear cancer A malignant neoplasm involving the internal ear. tmpaxzxjjyw_mondo_relaxed.owl malignant internal ear neoplasm|internal ear cancer|malignant neoplasm of internal ear|cancer of internal ear NCIT:C39784|DOID:5102|UMLS:C1512779 owl:Class UBERON:0005046 biolink:NamedThing mucosa of hard palate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001075 biolink:NamedThing steatorrhea A finding of an excessive amount of fat in the stool. tmpaxzxjjyw_mondo_relaxed.owl fatty stool|steatorrhea|steatorrhea (disease)|fatty stool (finding) steatorrhea (disease) NCIT:C86917|SCTID:27868004|DOID:10602|MESH:D045602|HP:0002570 owl:Class MONDO:0015586 biolink:NamedThing benign familial mesial temporal lobe epilepsy Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication. tmpaxzxjjyw_mondo_relaxed.owl benign FMTLE OMIM:615697|OMIM:611630|OMIM:614417|Orphanet:163717|UMLS:CN226709 owl:Class MONDO:0013583 biolink:NamedThing occipital pachygyria and polymicrogyria tmpaxzxjjyw_mondo_relaxed.owl occipital malformations of cortical development|cortical malformations, occipital|occipital MCD|OCCM UMLS:C3279875|ICD10:Q04.3|OMIM:614115|Orphanet:280640 owl:Class MONDO:0016876 biolink:NamedThing partial deletion of chromosome 11 tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome type 11|partial monosomy of chromosome 11 ICD10:Q93.5|Orphanet:261816 owl:Class MONDO:0000953 biolink:NamedThing cancer of short bone of lower limb tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of short bones of leg|malignant neoplasm of short bone of lower limb ICD9:170.8|SCTID:712525007|UMLS:C0153518|ICD10:C40.3|DOID:10151 owl:Class UBERON:5001463 biolink:NamedThing manual digit 1 plus metapodial segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044885 biolink:NamedThing tonsillar lipoma A benign adipose tissue neoplasm of the tonsils. tmpaxzxjjyw_mondo_relaxed.owl lipoma of tonsil|tonsillar lipoma|tonsil lipoma|lipoma of the tonsil UMLS:C1336764|NCIT:C5989 owl:Class MONDO:0002022 biolink:NamedThing disorder of orbital region A disease that involves the orbital region. tmpaxzxjjyw_mondo_relaxed.owl orbital region disease|orbital region disease or disorder|disorder of orbital region|ophthalmological disorder|disorder of eye region|eye and adnexa disease|disease of orbital region|disease or disorder of orbital region ICD10:H35.00|SCTID:371409005|DOID:1492|ICD9:362.10|ICD10:H00.H59 owl:Class MONDO:0020685 biolink:NamedThing infratentorial ependymal tumor An ependymal tumor arising from the infratentorial region of the brain. tmpaxzxjjyw_mondo_relaxed.owl infratentorial ependymal tumor NCIT:C131612 owl:Class MONDO:0017435 biolink:NamedThing popliteal pterygium syndrome A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora. tmpaxzxjjyw_mondo_relaxed.owl PPS|facio-genito-popliteal syndrome MESH:C562509|SCTID:66783006|DOID:0060055|Orphanet:1300|NCIT:C118786|UMLS:C0265259|ICD9:756.89|Orphanet:294963|OMIM:119500|OMIM:263650 Editor notes: DO and ordo classifies as AD, however there is an AR subclass (Bartsocas-Papas) owl:Class MONDO:0015225 biolink:NamedThing arthrogryposis syndrome tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis syndrome Orphanet:109007|ICD10:Q68.8 owl:Class UBERON:0003574 biolink:NamedThing elbow connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:16990 biolink:NamedThing bilirubin IXalpha A member of the class of biladienes that is a linear tetrapyrrole with the dipyrrole units being of both exovinyl and endovinyl type. A product of heme degradation, it is produced in the reticuloendothelial system by the reduction of biliverdin and transported to the liver as a complex with serum albumin. tmpaxzxjjyw_mondo_relaxed.owl bilirubin-IXalpha|3,18-diethenyl-2,7,13,17-tetramethyl-1,19-dioxo-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid|1,10,19,22,23,24-hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinylbiline-8,12-dipropionic acid|bilirubin(Z,Z)|bilirubin|2,17-diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-biline-8,12-dipropanoic acid|Bilirubin|8,12-bis(2-carboxyethyl)-2,7,13,17-tetramethyl-3,18-divinylbiladiene-ac-1,19(21H,24H)-dione|2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid owl:Class MONDO:0012992 biolink:NamedThing pancreatic insufficiency-anemia-hyperostosis syndrome This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. tmpaxzxjjyw_mondo_relaxed.owl exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis|pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome OMIM:612714|UMLS:C2675184|UMLS:C4302747|Orphanet:199337|MESH:C567195|SCTID:722207000 owl:Class MONDO:0022513 biolink:NamedThing atrophoderma of Pierini and Pasini Atrophoderma of Pierini and Pasini is thought to possibly represent a late stage of morphea a type of localized scleroderma. Signs and symptoms ofatrophoderma of Pierini and Pasini include multiple oval, darkened (hyperpigmented) plaques in which tissue under the skin breaks downso that there is a depression (dent) within the skin. Some findings suggest that atrophoderma of Pierini and Pasini may be associated with B burgdorferi, a bacteria that causesLyme disease, in some cases. tmpaxzxjjyw_mondo_relaxed.owl idiopathic atrophoderma of Pasini and Pierini|congenital atrophoderma of Pasini and Pierini SCTID:711524008|GARD:0005866|ICD10:L90.3 https://rarediseases.info.nih.gov/diseases/5866/atrophoderma-of-pierini-and-pasini owl:Class NCBITaxon:121225 biolink:NamedThing Pediculus humanus tmpaxzxjjyw_mondo_relaxed.owl human lice|body lice|human louse|head lice PMID:23049889|GC_ID:1|PMID:18434207 ncbi_taxonomy owl:Class NCBITaxon:121222 biolink:NamedThing Pediculus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004403 biolink:NamedThing periosteum of epiphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005817 biolink:NamedThing Kluver-Bucy syndrome Kluver Bucy syndrome is a rare behavioral impairment characterized byinappropriate sexual behaviors and mouthing of objects. Other signs and symptoms, includea diminished ability to visually recognize objects,loss of normal fear and anger responses, memory loss, distractibility, seizures, and dementia. It is associated with damage to the anterior temporal lobes of the brain. Cases have been reported in association with herpes encephalitis and head trauma. Treatment is symptomatic and may include the use of psychotropic medications. tmpaxzxjjyw_mondo_relaxed.owl syndrome, Kluver-Bucy|Kluver Bucy syndrome|KLuever-Bucy syndrome|KLüver-Bucy syndrome|post-encephalitic Kluver Bucy syndrome (type)|Klver-Bucy syndrome|temporal lobectomy behavior syndrome|post-traumatic Kluver Bucy syndrome (type)|bilateral temporal lobe disorder|memory loss, extreme sexual behavior, placidity, and visual distractibility MESH:D020232|GARD:0006840|DOID:2510|SCTID:10651001|NCIT:C84802|Orphanet:157823|MedDRA:10066431|EFO:0007335 MONDO:0015527 https://rarediseases.info.nih.gov/diseases/6840/kluver-bucy-syndrome owl:Class MONDO:0025149 biolink:NamedThing encephalopathy, bovine spongiform A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ataxia. This disorder has been associated with consumption of scrapie infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant creutzfeldt-jakob syndrome. (Vet Rec 1998 Jul 25;143(41):101-5) tmpaxzxjjyw_mondo_relaxed.owl Mad cow diseases|bovine spongiform encephalitis|Mad cow disease|encephalitis, bovine spongiform|BSEs (bovine spongiform encephalopathy)|BSE (bovine spongiform encephalopathy)|bovine spongiform encephalopathy|spongiform encephalopathy, bovine MESH:D016643 owl:Class MONDO:0017508 biolink:NamedThing congenital absence/hypoplasia of fingers excluding thumb, bilateral tmpaxzxjjyw_mondo_relaxed.owl Adactyly of hand, bilateral|digits 2-5 oligodactyly, bilateral|digits 2-5 hypodactyly, bilateral Orphanet:295114|ICD10:Q71.3 owl:Class MONDO:0017448 biolink:NamedThing congenital absence/hypoplasia of fingers excluding thumb tmpaxzxjjyw_mondo_relaxed.owl digits 2-5 oligodactyly|digits 2-5 hypodactyly ICD10:Q71.3|OMIM:102650|Orphanet:294990 owl:Class UBERON:0001331 biolink:NamedThing skin of penis tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903715 biolink:NamedThing regulation of aerobic respiration Any process that modulates the frequency, rate or extent of aerobic respiration. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010672 biolink:NamedThing linear skin defects with multiple congenital anomalies A genetic condition that affects the eyes and skin. It is mainly found in females and is characterized by small or poorly developed eyes (microphthalmia) and characteristic linear skin markings on the head and neck. The signs and symptoms of this condition may include abnormalities of the brain, heart, and genitourinary system. Other symptoms may include short stature, developmental delay, and finger and toenails that do not grow normally (nail dystrophy). MLS syndrome is typically caused by either a deletion of certain genetic material on the p (short) arm of the X chromosome or by a mutation in the HCCS gene. In some cases, it may be caused by mutations in the COX7B and NDUFB11 genes, (also located on the X chromosome). According to the mutated gene, the disease may be classified in three subtypes. This condition is inherited in an X-linked manner and is thought to result in serious early developmental concerns in males, leading to almost no males with this condition surviving to delivery.Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person's symptoms. tmpaxzxjjyw_mondo_relaxed.owl linear skin defects with multiple congenital anomalies|microphthalmia-dermal aplasia-sclerocornea syndrome|LSDMCA1|linear skin defects with multiple congenital anomalies 1|MIDAS syndrome|Micropthalmia syndromic 7|MLS syndrome|linear skin defects with multiple congenital anomalies type 1|microphthalmia dermal aplasia and sclerocornea syndrome|MCOPS7|syndromic microphthalmia type 7|microphthalmia with linear skin defects syndrome Orphanet:2556|OMIM:309801|OMIM:300887|GARD:0003659|OMIM:300952|OMIMPS:309801|SCTID:721879006|ICD10:Q11.2|MESH:C537466 Editor notes: Renamed from MICROPHTHALMIA, SYNDROMIC 7; MCOPS7 by OMIM on 5/15/15. Placed in both PS309801 and PS309800 by OMIM. https://rarediseases.info.nih.gov/diseases/3659/microphthalmia-with-linear-skin-defects-syndrome owl:Class MONDO:0043452 biolink:NamedThing chromosome 8, trisomy A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells. tmpaxzxjjyw_mondo_relaxed.owl chromosome 8 duplication|trisomy 8 SCTID:205649008|MESH:C537942|NCIT:C36396 owl:Class MONDO:0002133 biolink:NamedThing chronic rheumatic pericarditis Chronic form of rheumatic pericarditis. tmpaxzxjjyw_mondo_relaxed.owl rheumatic pericarditis, chronic SCTID:78069008|DOID:1869|ICD9:393|UMLS:C0155561|ICD10:I09.2 owl:Class MONDO:0007399 biolink:NamedThing TWIST1-related craniosynostosis Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene. tmpaxzxjjyw_mondo_relaxed.owl TWIST1-related craniosynostosis|craniosynostosis 1|craniostenosis|CRS|craniosynostosis type 1|CRS1 SCTID:57219006|UMLS:C0010278|Orphanet:63440|Orphanet:35099|OMIM:123100|UMLS:CN029978|Orphanet:35093 https://github.com/monarch-initiative/mondo/issues/2659 owl:Class UBERON:0001082 biolink:NamedThing epicardium of ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016675 biolink:NamedThing distal arthrogryposis type 10 tmpaxzxjjyw_mondo_relaxed.owl short Achilles tendon|short tendo calcaneus|tendo calcaneus, short|DA10|congenital plantar contractures|distal arthrogryposis type 10|arthrogryposis, distal, type 10|plantar flexion contracture DOID:0111593|ICD10:Q68.8|SCTID:275336002|MESH:C566069|Orphanet:251515|OMIM:187370|UMLS:C1861238 owl:Class UBERON:0011930 biolink:NamedThing preganglionic parasympathetic fiber tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14263 biolink:NamedThing RAB23 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003256 biolink:NamedThing neurohypophysis granular cell tumor A generally benign intrasellar and/or suprasellar mass arising from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. It generally has a slow progression and lacks invasive growth. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl granular cell tumor of neurohypophysis|neurohypophysis granular cell tumor|granular cell tumor of Neurohypophysis|granular cell tumor of the Neurohypophysis (WHO grade I)|granular cell tumor of the neurohypophysis|granular cell tumor of the posterior pituitary gland SCTID:699331002|DOID:5047|EFO:1000285|ICDO:9582/0|NCIT:C7017|UMLS:C1333873 owl:Class MONDO:0013438 biolink:NamedThing pontocerebellar hypoplasia type 2D Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS|PCH2D|pontocerebellar hypoplasia, type 2D|SEPSECS non-syndromic pontocerebellar hypoplasia|cerebello-cerebral atrophy, progressive|Cerebellocerebral atrophy, progressive|pontocerebellar hypoplasia type 2D DOID:0060270|OMIM:613811|UMLS:C3151140|Orphanet:2524|ICD10:Q04.3 owl:Class MONDO:0007842 biolink:NamedThing Ehlers-Danlos syndrome type 11 Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance. tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, type Xi|Ehlers-Danlos syndrome, type 11 (formerly)|EDS XI|EDS Xi, formerly|Joint instability syndrome|JOINT laxity, familial|EDS11, formerly|EDS Xi|EDS 11 (formerly)|articular hypermobility syndrome|familial joint instability syndrome|familial Joint instability syndrome|Ehlers-Danlos syndrome, type Xi, formerly|familial joint laxity|EDS11 Orphanet:2295|MESH:C535884|ICD10:Q79.6|OMIM:147900|SCTID:71322004|UMLS:C0268349|GARD:0003054 owl:Class UBERON:0003850 biolink:NamedThing telencephalon neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019396 biolink:NamedThing collagen type III glomerulopathy Collagen type III glomerulopathy is a rare glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. In some cases progression to end-stage renal failure is observed. tmpaxzxjjyw_mondo_relaxed.owl Collagenofibrotic glomerulopathy Orphanet:84087|ICD10:N07.6|SCTID:708127008|UMLS:CN206095|ICD9:583.89|UMLS:C3872695 owl:Class HGNC:15889 biolink:NamedThing FERMT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015892 biolink:NamedThing growth hormone insensitivity syndrome Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency. tmpaxzxjjyw_mondo_relaxed.owl GHIS|Growth hormone insensitivity syndromes|short stature due to a defect in growth hormone receptor or post-receptor pathway NCIT:C129867|UMLS:CN200504|GARD:0003924|UMLS:C0271568|ICD10:E34.3|UMLS:C4318479|Orphanet:181393 owl:Class MONDO:0000870 biolink:NamedThing childhood acute lymphoblastic leukemia An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias. tmpaxzxjjyw_mondo_relaxed.owl pediatric acute lymphocytic leukemia|acute lymphoblastic leukemia (ALL)|childhood acute lymphoblastic leukemia|pediatric acute lymphogenous leukemia|childhood acute lymphocytic leukemia|childhood ALL|pediatric ALL|pediatric acute lymphoblastic leukemia|pediatric acute lymphocytic leukemia (ALL)|pediatric acute lymphoid leukemia|childhood acute lymphogenous leukemia|childhood precursor lymphoblastic leukemia|childhood acute lymphoid leukemia DOID:0080144|GARD:0009240|NCIT:C3168|Orphanet:513 https://rarediseases.info.nih.gov/diseases/9240/childhood-acute-lymphoblastic-leukemia owl:Class MONDO:0002722 biolink:NamedThing olfactory nerve neoplasm Benign and malignant neoplasms which arise from or metastasize to the olfactory or first cranial nerve. Clinical features may include facial pain and impairments of taste or smell. tmpaxzxjjyw_mondo_relaxed.owl olfactory neural tumor|neoplasm of olfactory nerve|neoplasm of the olfactory nerve|first cranial nerve neoplasm|tumor of first cranial nerve|olfactory nerve neoplasms|olfactory nerve neoplasm (disease)|olfactory nerve tumor|tumor of the olfactory nerve|tumor of the first cranial nerve|tumor of olfactory nerve|first cranial nerve tumor|olfactory nerve neoplasm|neoplasms, olfactory nerve|first cranial nerve neoplasms|olfactory neural neoplasm|cranial nerve I neoplasms|neoplasms, cranial nerve I|neoplasm of the first cranial nerve|neoplasm of first cranial nerve NCIT:C5121|DOID:366|ICD9:239.7|SCTID:126967000|UMLS:C0346319|DOID:8256 owl:Class MONDO:0004759 biolink:NamedThing bestiality tmpaxzxjjyw_mondo_relaxed.owl zoophilia SCTID:81463002|ICD9:302.1|DOID:9336 owl:Class MONDO:0000596 biolink:NamedThing paraphilic disorder Disorders that include recurrent, intense sexually arousing fantasies, sexual urges, or behaviors generally involving nonhuman objects, suffering of oneself or partners, or children or other nonconsenting partners. (from DSM-V) tmpaxzxjjyw_mondo_relaxed.owl paraphilic disorder|Deviations, Sex|Sex deviation|paraphilia disorder|Paraphilias|disorder, Paraphilic|Sex Deviations|disorder of sexual preference|paraphilia|deviation, Sex|disorders, Paraphilic MESH:D010262|SCTID:50299009|DOID:0060044 owl:Class UBERON:0001483 biolink:NamedThing skin of shoulder tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005030 biolink:NamedThing fetal growth restriction A fetus that does not grow beyond the 10th percentile of conventionally accepted weight for gestational age. tmpaxzxjjyw_mondo_relaxed.owl fetal Growth retardation|intrauterine Growth restriction|intrauterine Growth retardation|fetal growth retardation|IUGR|fetal small for gestational Age|fetal SGA|fetus small for gestational Age EFO:0000495|ICD9:764.92|ICD9:764.94|ICD9:764.91|ICD9:764.95|NCIT:C80083|NCIT:C114875|ICD9:764.98|ICD9:764.97|ICD9:764.93|ICD9:764.96|ICD9:764.90|ICD9:764.9|MESH:D005317|SCTID:22033007|ICD9:764.99 Editor note: check if should be a disease owl:Class HGNC:4335 biolink:NamedThing GLUD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002262 biolink:NamedThing myeloid cell homeostasis The process of regulating the proliferation and elimination of myeloid cells such that the total number of myeloid cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048872 biolink:NamedThing homeostasis of number of cells Any biological process involved in the maintenance of the steady-state number of cells within a population of cells. tmpaxzxjjyw_mondo_relaxed.owl homeostasis of cell number|cell population homeostasis owl:Class CHEBI:25741 biolink:NamedThing oxide An oxide is a chemical compound of oxygen with other chemical elements. tmpaxzxjjyw_mondo_relaxed.owl oxide|oxides owl:Class CHEBI:25806 biolink:NamedThing oxygen molecular entity tmpaxzxjjyw_mondo_relaxed.owl oxygen molecular entities|oxygen molecular entity owl:Class MONDO:0000355 biolink:NamedThing Ullrich congenital muscular dystrophy Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence. tmpaxzxjjyw_mondo_relaxed.owl late onset scleroatonic familial myopathy (subtype)|Ullrich scleroatonic muscular dystrophy|congenital muscular dystrophy, Ullrich type|Ullrich disease|scleroatonic Ullrich disease|UCMD|scleroatonic muscular dystrophy GARD:0004769|OMIM:254090|ICD10:G71.2|UMLS:C0410179|DOID:0050558|OMIM:616470|SCTID:240062007|OMIMPS:254090|NCIT:C123438|MESH:C537521|Orphanet:75840 owl:Class GO:1901857 biolink:NamedThing positive regulation of cellular respiration Any process that activates or increases the frequency, rate or extent of cellular respiration. tmpaxzxjjyw_mondo_relaxed.owl activation of cellular respiration|activation of oxidative metabolism|activation of respiration|positive regulation of respiration|up regulation of respiration|upregulation of cellular respiration|upregulation of respiration|up-regulation of respiration|up-regulation of oxidative metabolic process|up regulation of oxidative metabolism|up regulation of cellular respiration|up-regulation of oxidative metabolism|positive regulation of oxidative metabolic process|up-regulation of cellular respiration|positive regulation of oxidative metabolism|up regulation of oxidative metabolic process|upregulation of oxidative metabolism|activation of oxidative metabolic process|upregulation of oxidative metabolic process owl:Class GO:0043457 biolink:NamedThing regulation of cellular respiration Any process that modulates the frequency, rate or extent of cellular respiration, the enzymatic release of energy from organic compounds. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016268 biolink:NamedThing papillary carcinoma of the corpus uteri A papillary carcinoma that involves the body of uterus. tmpaxzxjjyw_mondo_relaxed.owl endometrial capillary carcinoma|body of uterus papillary carcinoma ICD10:C54.1|Orphanet:213726|UMLS:CN201057 Editor note: check relationship to MONDO:0006196 owl:Class MONDO:0005213 biolink:NamedThing uterine carcinoma A carcinoma involving a uterus. tmpaxzxjjyw_mondo_relaxed.owl uterus carcinoma|carcinoma of uterus UMLS:C2960452|SCTID:446022000|EFO:0002919 owl:Class MONDO:0010587 biolink:NamedThing epidermodysplasia verruciformis, X-linked X-linked form of epidermodysplasia verruciformis. tmpaxzxjjyw_mondo_relaxed.owl epidermodysplasia verruciformis, X-linked|EDV2|X-linked epidermodysplasia verruciformis|EDVX Orphanet:302|OMIM:305350|UMLS:C1844589|MESH:C564430 owl:Class MONDO:0009176 biolink:NamedThing epidermodysplasia verruciformis Epidermodysplasia verruciformis (EV) is a rare inherited genodermatosis characterized by chronic infection with human papillomavirus (HPV) leading to polymorphous cutaneous lesions and high risk of developing non melanoma skin cancer. tmpaxzxjjyw_mondo_relaxed.owl ever|Lutz-Lewandowsky epidermodysplasia verruciformis|Lewandowsky-Lutz syndrome|Lewandowsky-Lutz dysplasia|epidermodysplasia verruciformis|EV OMIM:305350|ICD9:078.19|MedDRA:10052339|MESH:D004819|NCIT:C126877|OMIM:226400|ICD10:B07|GARD:0006357|DOID:13777|SCTID:19138001|OMIMPS:226400|UMLS:C0014522|ICD9:757.8|Orphanet:302 https://rarediseases.info.nih.gov/diseases/6357/epidermodysplasia-verruciformis owl:Class MONDO:0012166 biolink:NamedThing autosomal dominant sensory ataxia 1 Any hereditary ataxia in which the cause of the disease is a mutation in the RNF170 gene. tmpaxzxjjyw_mondo_relaxed.owl RNF170 hereditary ataxia|hereditary ataxia caused by mutation in RNF170|Adsa|SNAX1|ADSA|ataxia, sensory, 1, autosomal dominant UMLS:C1837015|DOID:0111170|OMIM:608984 owl:Class UBERON:0035316 biolink:NamedThing prostatic capsule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008441 biolink:NamedThing spastic paraplegia with associated extrapyramidal signs tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia with associated extrapyramidal signs OMIM:182800|UMLS:C1866852|MESH:C566681 owl:Class MONDO:0016875 biolink:NamedThing partial deletion of chromosome 10 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 10 ICD10:Q93.5|Orphanet:261811 owl:Class MONDO:0010544 biolink:NamedThing cataract 40 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene. tmpaxzxjjyw_mondo_relaxed.owl cataract 40, X-linked|cataract 40|NHS early-onset non-syndromic cataract|cataract, congenital, X-linked|cataract type 40|cataract congenital X-linked|CTRCT40|cataract, congenital, with microcornea or slight microphthalmia|cataract, congenital total, with posterior sutural opacities in heterozygotes|early-onset non-syndromic cataract caused by mutation in NHS|cataract 40 X-linked|cataract 40 with or without microcornea MESH:C535338|DOID:0110272|ICD10:Q12.0|OMIM:302200|Orphanet:98994|GARD:0008278|Orphanet:98991|Orphanet:91492 owl:Class MONDO:0002117 biolink:NamedThing pancreas sarcoma A rare malignant soft tissue neoplasm that occurs primarily in the pancreas. tmpaxzxjjyw_mondo_relaxed.owl pancreas sarcoma|pancreatic sarcoma|sarcoma of pancreas|sarcoma of the pancreas DOID:1796|UMLS:C1096346|NCIT:C5715 owl:Class MONDO:0021530 biolink:NamedThing benign neoplasm of subglottis A benign neoplasm that involves the subglottis. tmpaxzxjjyw_mondo_relaxed.owl benign subglottic neoplasm|benign tumor of the subglottis|subglottis benign neoplasm|benign subglottis tumor|benign subglottic tumor|benign subglottis neoplasm|benign neoplasm of the subglottis|benign tumor of subglottis NCIT:C4427|SCTID:92412003|UMLS:C0345749 owl:Class MONDO:0001221 biolink:NamedThing esophageal varices Abnormally dilated veins of the esophagus. tmpaxzxjjyw_mondo_relaxed.owl esophageal varices with bleeding in disease EC|bleeding oesophageal varices|esophageal varices without mention of bleeding|varicose disease of esophagus|esophageal varix|bleeding esophageal varices|esophagus varicose disease|esophageal varices|esophageal varices in disease classified elsewhere, with bleeding NCIT:C53506|SCTID:28670008|SCTID:17709002|ICD10:I85.01|ICD10:I85|DOID:112|ICD9:456.0|ICD9:456.20|ICD9:456.2|NCIT:C78282|GARD:0006384|MESH:D004932 owl:Class MONDO:0015909 biolink:NamedThing aplastic anemia Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors. tmpaxzxjjyw_mondo_relaxed.owl ICD10:D61.0|NCIT:C2870|ICD9:284.9|ICD10:D61.1|SCTID:306058006|ICD10:D61.3|Orphanet:182040|MESH:D000741|DOID:12449|ICD10:D61.9|ICD10:D61.2|ICD10:D61.8|ICD9:284.8 owl:Class MONDO:0000771 biolink:NamedThing allergic respiratory disease A respiratory system disease with a basis in a pathological type I hypersensitivity reaction. tmpaxzxjjyw_mondo_relaxed.owl allergic form of respiratory system disease|allergic respiratory system disease|respiratory allergy|airway allergy DOID:0060496 owl:Class GO:0048609 biolink:NamedThing multicellular organismal reproductive process The process, occurring above the cellular level, that is pertinent to the reproductive function of a multicellular organism. This includes the integrated processes at the level of tissues and organs. tmpaxzxjjyw_mondo_relaxed.owl reproductive process in a multicellular organism|organismal reproductive process owl:Class MONDO:0042977 biolink:NamedThing trichoepithelioma, multiple familial, 1 tmpaxzxjjyw_mondo_relaxed.owl epithelioma, hereditary multiple benign cystic|MFT1|trichoepithelioma multiple familial 1|epithelioma adenoides cysticum of Brooke|multiple familial trichoepithelioma 1|trichoepithelioma, multiple familial, 1|Brooke-Fordyce Trichoepitheliomas Orphanet:867|Orphanet:79493|UMLS:C1275122|GARD:0005262|OMIM:601606 owl:Class MONDO:0011114 biolink:NamedThing familial multiple trichoepithelioma tmpaxzxjjyw_mondo_relaxed.owl epithelioma adenoides cysticum|trichoepithelioma multiple familial|Brooke-Fordyce Trichoepitheliomas|epithelioma Adenoides Cysticum of Brooke|hereditary multiple benign cystic epithelioma|multiple familial trichoepithelioma|epithelioma, hereditary multiple benign cystic ICD10:D23.3|Orphanet:79493|OMIM:612099|UMLS:C1275122|SCTID:403825008|GARD:0010867|OMIM:601606|Orphanet:867 owl:Class GO:0045780 biolink:NamedThing positive regulation of bone resorption Any process that activates or increases the frequency, rate or extent of bone resorption. tmpaxzxjjyw_mondo_relaxed.owl upregulation of bone resorption|up-regulation of bone resorption|stimulation of bone resorption|activation of bone resorption|up regulation of bone resorption owl:Class MONDO:0011049 biolink:NamedThing fine-Lubinsky syndrome Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies. tmpaxzxjjyw_mondo_relaxed.owl brachycephaly, deafness, cataract, microstomia, and intellectual disability|fine-Lubinsky syndrome|brachycephaly, deafness, cataract and intellectual disability|brachycephaly, deafness, cataract and mental retardation|brachycephaly-deafness-cataract-intellectual disability syndrome|brachycephaly, deafness, cataract, microstomia, and mental retardation SCTID:720955004|ICD10:Q87.8|UMLS:C0795941|GARD:0000958|Orphanet:1272|OMIM:601353|MESH:C537933 https://rarediseases.info.nih.gov/diseases/958/fine-lubinsky-syndrome owl:Class MONDO:0015094 biolink:NamedThing subependymal nodular heterotopia tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3160906|ICD10:Q04.8|MedDRA:10071150|GARD:0005050|ICD9:742.4|Orphanet:101030|SCTID:699812002 https://rarediseases.info.nih.gov/diseases/5050/subependymal-nodular-heterotopia owl:Class UBERON:0003404 biolink:NamedThing lobar bronchus of right lung tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001046 biolink:NamedThing imperforate anus A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities. tmpaxzxjjyw_mondo_relaxed.owl anal atresia|anorectal malformations|anal stenosis|congenital or infantile occlusion of anus|congenital atresia of anus|anus, imperforate|imperforate anus OMIM:207500|Orphanet:557|OMIM:301800|GARD:0006769|NCIT:C84784|ICD10:Q42.3|DOID:10488|SCTID:204731006|MESH:D001006 owl:Class MONDO:0018916 biolink:NamedThing isolated anorectal malformation Anorectal malformations (ARM) comprise a wide spectrum of malformations involving the distal anus and rectum as well as the urinary and genital tracts, which can affect boys and girls. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic anorectal malformation OMIM:107100|MESH:C537771|ICD10:Q42.1|OMIM:207500|Orphanet:557|OMIM:301800|ICD10:Q42.2|ICD10:Q42.0|ICD10:Q42.3 owl:Class MONDO:0300000 biolink:NamedThing SSR3-CDG A congenital disorder of glycosylation with a SSR3 deficiency that affects the brain, lungs and gastrointestinal system, and presents with clinical phenotypes such as seizures, intellectual disability, developmental delay, microcephaly and abnormal brain structure. tmpaxzxjjyw_mondo_relaxed.owl SSR3 congenital disorder of glycosylation|SSR3 deficiency http://orcid.org/0000-0001-9969-8610 http://orcid.org/0000-0003-2338-2550 owl:Class UBERON:0019221 biolink:NamedThing digit 1 or 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013476 biolink:NamedThing hypertrophic cardiomyopathy 19 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene. tmpaxzxjjyw_mondo_relaxed.owl CMH19|hypertrophic cardiomyopathy caused by mutation in CALR3|CALR3 hypertrophic cardiomyopathy|cardiomyopathy, familial hypertrophic, 19|cardiomyopathy, familial hypertrophic, type 19|cardiomyopathy familial hypertrophic 19|hypertrophic cardiomyopathy type 19 DOID:0110325|OMIM:613875|UMLS:C3151266 owl:Class GO:0071621 biolink:NamedThing granulocyte chemotaxis The movement of a granulocyte in response to an external stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18337 biolink:NamedThing PADI3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014881 biolink:NamedThing distal epiphysis of distal phalanx of manual digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019088 biolink:NamedThing post-transplant lymphoproliferative disease Post-transplant lymphoproliferative disorder (PTLD) is a polyclonal (benign) or clonal (malignant) proliferation of lymphoid cells that develops as a consequence of immunosuppression in a recipient of a solid organ or bone marrow allograft. PTLDs comprise a spectrum ranging from early, Epstein-Barr virus (EBV)-driven polyclonal lymphoid proliferations to EBV-positive or EBV- negative lymphomas of predominantly B-cell or less often T-cell type. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl post-transplant lymphoproliferative disorder|PTLD ICD10:D47.9|Orphanet:70568|UMLS:C0432487|GARD:0009553|MedDRA:10051358|NCIT:C4727|SCTID:254290004|ICDO:9971/1 https://rarediseases.info.nih.gov/diseases/9553/post-transplant-lymphoproliferative-disease owl:Class GO:0050908 biolink:NamedThing detection of light stimulus involved in visual perception The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl sensory detection of light during visual perception|sensory detection of light stimulus during visual perception|sensory transduction of light stimulus during visual perception|sensory transduction of light during visual perception|visual perception, detection of light stimulus|visual perception, sensory transduction during perception of light|visual perception, sensory transduction of light stimulus owl:Class GO:0009584 biolink:NamedThing detection of visible light The series of events in which a visible light stimulus is received by a cell and converted into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm. tmpaxzxjjyw_mondo_relaxed.owl perception of visible light owl:Class UBERON:0010393 biolink:NamedThing T cell domain tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0004354 biolink:NamedThing Abnormal circulating carboxylic acid concentration Any deviation from the normal concentration of a carboxylic acid in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025344 Carboxylic acid refers to an organic compound that contains a carboxyl group (-COOH). peter 2008-03-17T01:11:00Z human_phenotype owl:Class MONDO:0013934 biolink:NamedThing combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency). tmpaxzxjjyw_mondo_relaxed.owl Mst1 deficiency|STK4 deficiency|TIIAC|T-cell immunodeficiency, recurrent infections, and autoimmunity with or without CARDIAC malformations|Cid due to STK4 deficiency UMLS:C3553943|OMIM:614868|Orphanet:314689|ICD10:D81.8 owl:Class GO:0000791 biolink:NamedThing euchromatin A dispersed and relatively uncompacted form of chromatin. tmpaxzxjjyw_mondo_relaxed.owl nuclear euchromatin owl:Class GO:0000785 biolink:NamedThing chromatin The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. tmpaxzxjjyw_mondo_relaxed.owl chromosome scaffold|nuclear chromatin|cytoplasmic chromatin owl:Class MONDO:0034022 biolink:NamedThing Bethlem myopathy 2 tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, myopathic type|Bethlem myopathy type 2|Bethlem myopathy 2|COL12A1 Bethlem myopathy|BTHLM2|myopathic Ehlers-Danlos syndrome|myopathic EDS|EDS, myopathic type|Bethlem myopathy caused by mutation in COL12A1 Orphanet:536516|UMLS:C4225313|OMIM:616471|Orphanet:610 owl:Class MONDO:0100014 biolink:NamedThing autoimmune retinopathy An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss. tmpaxzxjjyw_mondo_relaxed.owl AIR|retina autoimmune disease|autoimmune disease of retina 2018-05-23 00:32:51+00:00 SCTID:724809006|GARD:0012034|UMLS:C3203657 owl:Class MONDO:0017516 biolink:NamedThing brachydactyly of fingers, bilateral tmpaxzxjjyw_mondo_relaxed.owl short fingers, bilateral Orphanet:295130|ICD10:Q71.8 owl:Class MONDO:0017451 biolink:NamedThing non-syndromic brachydactyly of fingers A non-syndromic brachydactyly that involves the manus. tmpaxzxjjyw_mondo_relaxed.owl short fingers|non-syndromic brachydactyly of manus|manus non-syndromic brachydactyly ICD10:Q71.8|Orphanet:294996 owl:Class MONDO:0006960 biolink:NamedThing sciatic neuropathy Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363) tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149940|MESH:D020426|SCTID:52585001|EFO:1001166|DOID:11446|MedDRA:10048950 owl:Class HGNC:4795 biolink:NamedThing H6PD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011804 biolink:NamedThing autoimmune lymphoproliferative syndrome type 2B Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses. tmpaxzxjjyw_mondo_relaxed.owl caspase 8 deficiency syndrome|caspase-8 deficiency|CEDS|Ceds|autoimmune lymphoproliferative syndrome with recurrent viral infections|autoimmune lymphoproliferative syndrome caused by mutation in CASP8|autoimmune lymphoproliferative syndrome, type 2B|ALPS2B|CASP8 autoimmune lymphoproliferative syndrome|caspase eight deficiency state|ALPS with recurrent viral infections|caspase 8 deficiency|autoimmune lymphoproliferative syndrome type IIB Orphanet:275517|OMIM:607271|GARD:0009796|SCTID:722290008|DOID:0110116|ICD10:D47.9 owl:Class UBERON:0013773 biolink:NamedThing right nipple tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019016 biolink:NamedThing maternally-inherited progressive external ophthalmoplegia tmpaxzxjjyw_mondo_relaxed.owl maternally-inherited chronic progressive external ophthalmoplegia|maternally-inherited CPEO UMLS:CN924917|Orphanet:663|ICD10:H49.4 owl:Class MONDO:0001894 biolink:NamedThing spinal cord sarcoma A sarcoma that arises from the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of spinal cord|spinal cord sarcoma|sarcoma of the spinal cord UMLS:C1336049|NCIT:C5152|DOID:14152 owl:Class MONDO:0700014 biolink:NamedThing chromosome 7 disorder Chromosomal disorder in which chromosome 7 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class CHEBI:73182 biolink:NamedThing plant activator Any compound that protects plants by activating their defence mechanisms. tmpaxzxjjyw_mondo_relaxed.owl plant activators owl:Class CHEBI:33286 biolink:NamedThing agrochemical An agrochemical is a substance that is used in agriculture or horticulture. tmpaxzxjjyw_mondo_relaxed.owl agrichemical|agricultural chemicals|agrochemicals|agrichemicals owl:Class GO:1904675 biolink:NamedThing regulation of somatic stem cell division Any process that modulates the frequency, rate or extent of somatic stem cell division. tmpaxzxjjyw_mondo_relaxed.owl regulation of somatic stem cell renewal owl:Class GO:2000035 biolink:NamedThing regulation of stem cell division Any process that modulates the frequency, rate or extent of stem cell division. tmpaxzxjjyw_mondo_relaxed.owl regulation of stem cell renewal owl:Class UBERON:0003248 biolink:NamedThing epithelium of footplate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011046 biolink:NamedThing short stature, Brussels type This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl Mievis Verellen-Dumoulin syndrome|short stature syndrome, Brussels type|familial short stature with facial dysmorphism and osteochondrodysplastic lesions|Mievis-Verellen-Dumoulin syndrome SCTID:719213009|ICD10:Q87.1|OMIM:601350|UMLS:C1832439|GARD:0004838|MESH:C537121|Orphanet:2867 owl:Class UBERON:0010707 biolink:NamedThing appendage girdle complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010263 biolink:NamedThing Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome tmpaxzxjjyw_mondo_relaxed.owl ATS-MR|AMME syndrome|chromosome Xq22.3 telomeric deletion syndrome|AMME complex|Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|Ats-Mr|Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis SCTID:720982007|Orphanet:86818|UMLS:C1846242|MESH:C564570|ICD10:Q87.8|OMIM:300194|OMIM:300990 owl:Class MONDO:0022103 biolink:NamedThing chronic prostatitis An infectious or non-infectious chronic inflammatory process that affects the prostate gland. tmpaxzxjjyw_mondo_relaxed.owl chronic prostatitis|Chronic prostatitis|Chronic Prostatitis SCTID:19905009|UMLS:C0085696|NCIT:C26930|ICD9:601.1 owl:Class MONDO:0000809 biolink:NamedThing purpura fulminans A severe, rapidly fatal reaction occurring most commonly in children following an infectious illness. It is characterized by large, rapidly spreading skin hemorrhages, fever, or shock. Purpura fulminans often accompanies or is triggered by disseminated intravascular coagulation. tmpaxzxjjyw_mondo_relaxed.owl fibrinolytic purpura|purpura gangrenosa ICD10:D65|DOID:0060538|EFO:1001913|SCTID:13507004|MESH:D055665 owl:Class UBERON:0034908 biolink:NamedThing scapular muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003352 biolink:NamedThing epithelium of midgut tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0017750 biolink:NamedThing proximal mesopodial endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019012 biolink:NamedThing Carpenter syndrome An extremely rare autosomal recessive syndrome characterized by premature closure of cranial sutures leading to cone-shaped head, fusion of the digits, and the presence of more digits than normal. It may be associated with heart defects, single horseshoe-shaped kidney, short stature, undescended testes, and mild mental retardation. tmpaxzxjjyw_mondo_relaxed.owl type II Acrocephalopolysyndactyly|acrocephalopolysyndactyly type II|Carpenter 's syndrome|acrocephalosyndactyly, type II|ACPS2|acrocephalopolysyndactyly type 2|Carpenter syndrome ICD10:Q87.0|NCIT:C98873|SCTID:403767009|OMIM:201000|UMLS:C1275078|GARD:0006003|DOID:0060234|OMIM:614976|SCTID:205813009|UMLS:CN229565|Orphanet:65759|OMIMPS:201000 owl:Class MONDO:0008188 biolink:NamedThing papillomatosis, confluent and reticulated tmpaxzxjjyw_mondo_relaxed.owl papillomatosis, reticulated and confluent, of Gougerot and Carteaud|carp|papillomatosis, confluent and reticulated|papillomatosis, familial cutaneous UMLS:C0263385|OMIM:167900|MESH:C566832 owl:Class MONDO:0035362 biolink:NamedThing TRIM22-related inflammatory bowel disease Any inflammatory bowel disease in which the cause of the disease is a mutation in the TRIM22 gene. tmpaxzxjjyw_mondo_relaxed.owl TRIM22-related IBD Orphanet:597201 This was considered for obsoletion but upon further review it seems like a valid disease. https://github.com/monarch-initiative/mondo/issues/3540 owl:Class MONDO:0019309 biolink:NamedThing late-onset junctional epidermolysis bullosa Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB) occurring in childhood or young adulthood. tmpaxzxjjyw_mondo_relaxed.owl JEB-lo|EB progressive UMLS:CN205949|SCTID:719432000|Orphanet:79406|ICD10:Q81.8|UMLS:C4304724|GARD:0012921 https://rarediseases.info.nih.gov/diseases/12921/late-onset-junctional-epidermolysis-bullosa owl:Class MONDO:0006348 biolink:NamedThing pancreatic small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells. tmpaxzxjjyw_mondo_relaxed.owl small cell carcinoma of endocrine pancreas|pancreatic small cell neuroendocrine carcinoma|pancreatic small cell NEC G3|endocrine pancreas small cell carcinoma|pancreatic small cell NEC UMLS:C2987240|EFO:1000444|NCIT:C95583 owl:Class HGNC:11509 biolink:NamedThing SYT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18576 biolink:NamedThing CCNO tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020533 biolink:NamedThing streptobacillary rat-bite fever Streptobacillary rat-bite fever (RBF) is a systemic zoonosis caused by the aerobic gram-negative bacterium Streptobacillus moniliformis and is transmitted to humans through the bites and scratches of infected rats. tmpaxzxjjyw_mondo_relaxed.owl Streptobacillosis|Streptobacillary fever|Haverhill fever|streptobacillary rat-bite fever UMLS:C0152063|DOID:13238|Orphanet:99905|UMLS:CN207435|ICD10:A25.1|ICD9:026.1|SCTID:52138004 owl:Class MONDO:0018273 biolink:NamedThing XYLT1-CDG tmpaxzxjjyw_mondo_relaxed.owl XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation UMLS:CN204859|ICD10:E77.8|Orphanet:370930 owl:Class MONDO:0018782 biolink:NamedThing type 1 interferonopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:477647 owl:Class UBERON:0014907 biolink:NamedThing intersomitic vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008829 biolink:NamedThing chylous ascites Chylous ascites is a rare form of ascites caused by accumulation of lymph in the peritoneal cavity, usually due to intra-abdominal malignancy, liver cirrhosis or abdominal surgery complications, and present with painless but progressive abdominal distension, dyspnea and weight gain. tmpaxzxjjyw_mondo_relaxed.owl congenital chylous ascites|ascites, chylous Orphanet:1160|GARD:0001359|OMIM:208300|MedDRA:10003446|SCTID:52985009|MESH:D002915|UMLS:C0008732|ICD10:I89.8|NCIT:C34482|ICD9:457.8 https://rarediseases.info.nih.gov/diseases/1359/chylous-ascites owl:Class GO:2000066 biolink:NamedThing positive regulation of cortisol biosynthetic process Any process that activates or increases the frequency, rate or extent of cortisol biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cortisol anabolism|positive regulation of cortisol biosynthesis|positive regulation of cortisol synthesis|positive regulation of cortisol formation owl:Class GO:1902932 biolink:NamedThing positive regulation of alcohol biosynthetic process Any process that activates or increases the frequency, rate or extent of alcohol biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl up regulation of alcohol anabolism|upregulation of alcohol formation|upregulation of alcohol synthesis|up-regulation of alcohol synthesis|activation of alcohol biosynthetic process|upregulation of alcohol biosynthetic process|up regulation of alcohol biosynthesis|positive regulation of alcohol biosynthesis|positive regulation of alcohol anabolism|up-regulation of alcohol anabolism|activation of alcohol anabolism|upregulation of alcohol biosynthesis|up regulation of alcohol biosynthetic process|positive regulation of alcohol synthesis|up-regulation of alcohol formation|positive regulation of alcohol formation|activation of alcohol biosynthesis|upregulation of alcohol anabolism|positive regulation of solventogenesis|up regulation of alcohol synthesis|up-regulation of alcohol biosynthesis|up regulation of alcohol formation|up-regulation of alcohol biosynthetic process|activation of alcohol formation|activation of alcohol synthesis owl:Class MONDO:0014099 biolink:NamedThing nephrotic syndrome, type 8 Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene. tmpaxzxjjyw_mondo_relaxed.owl NPHS8|nephrotic syndrome caused by mutation in ARHGDIA|ARHGDIA nephrotic syndrome|nephrotic syndrome, type 8 UMLS:C3808953|Orphanet:656|DOID:0080389|OMIM:615244 owl:Class MONDO:0015463 biolink:NamedThing craniodigital syndrome-intellectual disability syndrome Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl craniodigital syndrome-mental retardation, Scott type|Scott craniodigital syndrome with mental retardation|Scott Bryant Graham syndrome|craniodigital syndrome with mental retardation|craniodigital-intellectual disability syndrome|Scott-Bryant-Graham syndrome|Scott craniodigital syndrome|Scott craniodigital syndrome with intellectual disability|craniodigital syndrome with intellectual disability|craniodigital syndrome-intellectual disability, Scott type GARD:0004776|SCTID:763665007|MESH:C537528|ICD10:Q87.0|Orphanet:1514|UMLS:C1839311 https://rarediseases.info.nih.gov/diseases/4776/scott-bryant-graham-syndrome owl:Class MONDO:0004917 biolink:NamedThing internal hordeolum A hordeolum that results from infection of a meibomian gland. tmpaxzxjjyw_mondo_relaxed.owl infection of meibomian gland|infected chalazion|infected meibomian cyst|meibomian adenitis|internal hordeolum|hordeolum internum|infected cyst of meibomian gland|tarsal gland hordeolum|hordeolum of tarsal gland ICD10:H00.02|SCTID:414521009|ICD9:373.12|DOID:9908|UMLS:C0085690 owl:Class MONDO:0008134 biolink:NamedThing autosomal dominant optic atrophy, classic form One of the most common forms of hereditary optic neuropathy characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects. tmpaxzxjjyw_mondo_relaxed.owl optic atrophy 1|Kjer optic atrophy|OAK|OPA1|optic atrophy type 1|autosomal dominant optic atrophy, Kjer type|optic atrophy, juvenile|optic atrophy, Kjer type|Kjer-type optic atrophy OMIM:605293|OMIM:165500|OMIM:610708|ICD10:H47.2|GARD:0009890|Orphanet:98673|DOID:0111441|UMLS:C0338508|SCTID:717336005|UMLS:CN207069 owl:Class UBERON:0016392 biolink:NamedThing mastoid lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003115 biolink:NamedThing subglottic hemangioma A hemangioma arising from the subglottic area. tmpaxzxjjyw_mondo_relaxed.owl hemangioma of the subglottis|subglottic angioma|hemangioma of subglottis|subglottic hemangioma|angioma of the subglottis|subglottis angioma|subglottis hemangioma|angioma of subglottis UMLS:C1336518|DOID:472|NCIT:C6026 owl:Class UBERON:0001616 biolink:NamedThing maxillary artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006190 biolink:NamedThing endolymphatic sac tumor An aggressive epithelial neoplasm arising from the temporal bone. It is characterized by the presence of a papillary pattern, and has been described as an adenoma or carcinoma in the literature. There is disagreement regarding its relationship to endolymphatic sac tumor. tmpaxzxjjyw_mondo_relaxed.owl endolymphatic sac tumor|aggressive papillary tumor of the temporal bone|endolymphatic sac tumor (disease)|neoplasm of endolymphatic sac|ELST|endolymphatic sac neoplasm|endolymphatic sac neoplasm (disease)|tumor of endolymphatic sac endolymphatic sac tumor (disease) NCIT:C67560|UMLS:C2348239|EFO:1000230|ICD9:212.0|HP:0030393|SCTID:699817008|ICDO:8260/1|GARD:0009270 owl:Class UBERON:0003522 biolink:NamedThing manual digit blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0010002 biolink:NamedThing exposure to environmental process quality A exposure event involving the interaction of an exposure receptor to process quality. tmpaxzxjjyw_mondo_relaxed.owl process quality exposure owl:Class GO:0009448 biolink:NamedThing gamma-aminobutyric acid metabolic process The chemical reactions and pathways involving gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. tmpaxzxjjyw_mondo_relaxed.owl 4-aminobutyrate metabolism|GABA metabolic process|4-aminobutyrate metabolic process|GABA metabolism|gamma-aminobutyric acid metabolism|4-aminobutanoate metabolic process|4-aminobutanoate metabolism owl:Class HP:0010461 biolink:NamedThing Abnormality of the male genitalia Abnormality of the male genital system. tmpaxzxjjyw_mondo_relaxed.owl Abnormal male genitals|Abnormality of the male genitalia UMLS:C4023819 peter 2009-09-15T08:33:20Z human_phenotype owl:Class MONDO:0012493 biolink:NamedThing restless legs syndrome, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl RLS 4|restless legs syndrome, susceptibility to, 4|RLS4 OMIM:610439|GARD:0010271 owl:Class MONDO:0011202 biolink:NamedThing RHYNS syndrome RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. tmpaxzxjjyw_mondo_relaxed.owl RHYNS syndrome|retinitis pigmentosa syndrome|retinitis pigmentosa, hypopituitarism, nephronophthisis, and mild skeletal dysplasia|retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome SCTID:723999009|Orphanet:140976|MESH:C537612|UMLS:C1865794|GARD:0009681|OMIM:602152 owl:Class MONDO:0014756 biolink:NamedThing tremor, hereditary essential, 5 Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene. tmpaxzxjjyw_mondo_relaxed.owl TENM4 essential tremor|ETM5|tremor, hereditary essential, 5; ETM5|essential tremor caused by mutation in TENM4|tremor, hereditary essential, type 5|tremor, hereditary essential, 5 OMIM:616736|DOID:0111432|UMLS:C4225223 owl:Class MONDO:0003233 biolink:NamedThing essential tremor A relatively common disorder characterized by a fairly specific pattern of tremors which are most prominent in the upper extremities and neck, inducing titubations of the head. The tremor is usually mild, but when severe may be disabling. An autosomal dominant pattern of inheritance may occur in some families (i.e., familial tremor). (Mov Disord 1988;13(1):5-10) tmpaxzxjjyw_mondo_relaxed.owl shaky hand syndrome|benign essential tremor|tremor, hereditary essential|essential hereditary tremor Orphanet:862|UMLS:C0270736|OMIM:602134|OMIM:190300|SCTID:609558009|OMIM:611456|DOID:4990|MESH:D020329|EFO:0003108|ICD10:G25.0|OMIM:614782|ICD9:333.1|OMIMPS:190300 owl:Class GO:0043648 biolink:NamedThing dicarboxylic acid metabolic process The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing two carboxyl (COOH) groups or anions (COO-). tmpaxzxjjyw_mondo_relaxed.owl dicarboxylate metabolism|dicarboxylate metabolic process|dicarboxylic acid metabolism owl:Class MONDO:0008972 biolink:NamedThing rhizomelic chondrodysplasia punctata type 1 A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause. tmpaxzxjjyw_mondo_relaxed.owl rhizomelic chondrodysplasia punctata type 1|peroxisome biogenesis disorder 9|Rcdp1|Pbd9|chondrodystrophia calcificans punctata|rhizomelic chondrodysplasia punctata caused by mutation in PEX7|rhizomelic chondrodysplasia punctata, type 1|chondrodysplasia punctata, rhizomelic form|RCDP1|PEX7 rhizomelic chondrodysplasia punctata GARD:0006049|Orphanet:309789|Orphanet:177|ICD10:Q77.3|DOID:0110851|OMIM:215100|UMLS:C1859133 https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1|https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0009300 biolink:NamedThing Perrault syndrome 1 Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene. tmpaxzxjjyw_mondo_relaxed.owl Perrault syndrome caused by mutation in HSD17B4|Perrault syndrome 1|PRLTS1|ovarian dysgenesis with sensorineural deafness|Perrault syndrome type 1|gonadal dysgenesis, 20 type, with deafness|HSD17B4 Perrault syndrome Orphanet:2855|OMIM:233400|UMLS:C0685838 owl:Class MONDO:0000152 biolink:NamedThing thiamine-responsive dysfunction syndrome tmpaxzxjjyw_mondo_relaxed.owl thiamine-responsive dysfunction syndrome OMIMPS:249270 owl:Class MONDO:0021525 biolink:NamedThing benign neoplasm of corpus uteri A benign neoplasm that involves the body of uterus. tmpaxzxjjyw_mondo_relaxed.owl benign corpus uteri neoplasm|benign tumor of uterine body|benign tumor of the body of uterus|benign uterine body neoplasm|benign neoplasm of the corpus uteri|benign uterine corpus tumor|benign uterine corpus neoplasm|body of uterus benign neoplasm|benign neoplasm of uterine body|benign neoplasm of the uterine body|benign tumor of the uterine corpus|benign corpus uteri tumor|benign neoplasm of the body of uterus|benign neoplasm of the uterine corpus|benign neoplasm of body of uterus|benign tumor of uterine corpus|benign tumor of body of uterus|benign tumor of the corpus uteri|benign uterine body tumor|benign tumor of the uterine body|benign neoplasm of uterine corpus|benign tumor of corpus uteri NCIT:C3608|ICD9:219.1|SCTID:92021007|UMLS:C0153998 owl:Class MONDO:0018092 biolink:NamedThing Vogt-Koyanagi-Harada disease A bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations. tmpaxzxjjyw_mondo_relaxed.owl uveomeningoencephalitic syndrome|Vogt-Koyanagi syndrome|Harada's disease|Uveomenigitic syndrome|Vogt-Koyanagi-Harada syndrome|VKH disease|VKH syndrome ICD10:H20.8|MESH:D014607|DOID:12297|ICD10:H30.8|NCIT:C85218|GARD:0007862|ICD9:364.24|ICD9:363.22|Orphanet:3437|SCTID:193497004|UMLS:C0042170|ICD10:H30.81|ICD10:H20.82 https://rarediseases.info.nih.gov/diseases/7862/vogt-koyanagi-harada-disease owl:Class MONDO:0008408 biolink:NamedThing scapuloperoneal spinal muscular atrophy, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl SPSMA|scapuloperoneal neuronopathy|amyotrophy, neurogenic scapuloperoneal, New England type|scapuloperoneal spinal muscular atrophy|neurogenic scapuloperoneal amyotrophy, New England type EFO:1001992|Orphanet:431255|SCTID:230248006|ICD10:G12.1|DOID:0111552|OMIM:181405|ICD9:335.19|GARD:0010314 owl:Class MONDO:0008508 biolink:NamedThing symphalangism, C. S. Lewis type tmpaxzxjjyw_mondo_relaxed.owl thumbs, stiff|symphalangism, C. S. Lewis type MESH:C566100|OMIM:185650|UMLS:C1861404 owl:Class UBERON:0001777 biolink:NamedThing substantia propria of cornea tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025381 biolink:NamedThing avian leukosis A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere. tmpaxzxjjyw_mondo_relaxed.owl leukoses, Avian|leukosis, Avian|Avian Leukoses UMLS:C0004421|MESH:D001353 owl:Class MONDO:0024905 biolink:NamedThing bird disease Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from poultry diseases which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc. tmpaxzxjjyw_mondo_relaxed.owl diseases, Bird|disease, Avian|disease, Bird|Avian disease|Avian diseases|bird disease|diseases, Avian UMLS:C0005591|MESH:D001715 owl:Class MONDO:0030366 biolink:NamedThing cardiomyopathy, dilated, 2E tmpaxzxjjyw_mondo_relaxed.owl CMD2E|cardiomyopathy, dilated, 2E OMIM:619492 owl:Class NCBITaxon:39107 biolink:NamedThing Murinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:109679 ncbi_taxonomy owl:Class MONDO:0006067 biolink:NamedThing acinar prostate mucinous adenocarcinoma A usually aggressive morphologic variant of acinar adenocarcinoma of the prostate gland characterized by the presence of lakes of extracellular mucin. This diagnosis applies when at least 25% of the resected tumor contains extracellular mucin. tmpaxzxjjyw_mondo_relaxed.owl colloid adenocarcinoma of the prostate|mucinous adenocarcinoma of the prostate|colloidal adenocarcinoma of prostate|colloidal prostate adenocarcinoma|colloid adenocarcinoma of prostate|colloidal adenocarcinoma of the prostate|mucinous adenocarcinoma of prostate|acinar colloid prostate adenocarcinoma|prostate colloid adenocarcinoma UMLS:C1335513|EFO:1000065|DOID:3703|NCIT:C5537 owl:Class MONDO:0011687 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2F Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop. tmpaxzxjjyw_mondo_relaxed.owl HSPB1 Charcot-Marie-Tooth disease type 2|CMT 2F|Charcot Marie Tooth disease type 2F|Charcot-Marie-Tooth disease, axonal, type 2F|Charcot-Marie-Tooth neuropathy type 2F|Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1|autosomal dominant Charcot-Marie-Tooth disease type 2F|Charcot-Marie-Tooth neuronal type 2F|Charcot-Marie-Tooth neuropathy, type 2F|Charcot-Marie-Tooth disease, neuronal, type 2F|Charcot-Marie-Tooth disease type 2F|CMT2F OMIM:606595|ICD10:G60.0|MESH:C535413|SCTID:719510006|GARD:0009194|UMLS:C1847823|Orphanet:99940|DOID:0110163|UMLS:C4304675 https://rarediseases.info.nih.gov/diseases/9194/charcot-marie-tooth-disease-type-2f owl:Class UBERON:0005563 biolink:NamedThing trigeminal neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005045 biolink:NamedThing mucosa of ethmoidal sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002262 biolink:NamedThing capillary lymphangioma A lymphangioma that involves the capillary. tmpaxzxjjyw_mondo_relaxed.owl cutaneous lymphangioma|capillary lymphangioma DOID:2286|SCTID:445492005|NCIT:C27509|UMLS:C1333176 owl:Class MONDO:0009885 biolink:NamedThing Scott syndrome Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity. tmpaxzxjjyw_mondo_relaxed.owl SCTS|bleeding abnormality due to deficiency of platelet biding of factor X|familial prothrombin consumption inhibitor|prothrombin consumption deficiency|Scott syndrome|prothrombin conversion defect, familial|BDPLT7|familial prothrombin conversion defect|prothrombin consumption inhibitor, familial|bleeding Abnormality due to deficiency of Platelet binding of Factor 10|Platelet factor X receptor deficiency|bleeding disorder, Platelet-type, 7|platelet-type bleeding disorder 7 GARD:0004777|MESH:C563120|OMIM:262890|UMLS:C0796149|SCTID:128098009|ICD10:D69.8|Orphanet:806|DOID:0111052 https://rarediseases.info.nih.gov/diseases/4777/scott-syndrome owl:Class MONDO:0024348 biolink:NamedThing pityriasis capitis tmpaxzxjjyw_mondo_relaxed.owl pityriasis capitis 2022-02-01 SCTID:400201008 Reason: out of scope. owl:Class MONDO:0025013 biolink:NamedThing non-human primate disease Diseases of animals within the order primates. This term includes diseases of Haplorhini and Strepsirhini. tmpaxzxjjyw_mondo_relaxed.owl disease, Primate|diseases, Primate|Primate disease MESH:D018419|UMLS:C0242634 owl:Class HGNC:11114 biolink:NamedThing KDM5C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044652 biolink:NamedThing optic atrophy-peripheral neuropathy-developmental delay syndrome tmpaxzxjjyw_mondo_relaxed.owl Harel-Yoon syndrome Orphanet:496790 owl:Class MONDO:0016197 biolink:NamedThing qualitative or quantitative defects of selenoprotein N1 tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209193 owl:Class HGNC:3616 biolink:NamedThing FCGR2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032901 biolink:NamedThing Catifa syndrome tmpaxzxjjyw_mondo_relaxed.owl Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder|CATIFA SYNDROME|CATIFA OMIM:618761 owl:Class CHEBI:51374 biolink:NamedThing GABA agent A substance, such as agonists, antagonists, degradation or uptake inhibitors, depleters, precursors, and modulators of receptor function, used for its pharmacological actions on GABAergic systems. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6345 biolink:NamedThing KLF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032898 biolink:NamedThing spermatogenic failure 43 tmpaxzxjjyw_mondo_relaxed.owl SPGF43|SPERMATOGENIC FAILURE 43 OMIM:618751 owl:Class MONDO:0013236 biolink:NamedThing pancreatic cancer, susceptibility to, 3 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene. tmpaxzxjjyw_mondo_relaxed.owl susceptibility to pancreatic cancer 3|pancreatic cancer, susceptibility to, type 3|Pnca3|PALB2 familial pancreatic carcinoma|pancreatic cancer, susceptibility to, 3|familial pancreatic carcinoma caused by mutation in PALB2 Orphanet:1333|OMIM:613348 owl:Class GO:0002863 biolink:NamedThing positive regulation of inflammatory response to antigenic stimulus Any process that activates or increases the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. tmpaxzxjjyw_mondo_relaxed.owl activation of inflammatory response to antigenic stimulus|up regulation of inflammatory response to antigenic stimulus|up-regulation of inflammatory response to antigenic stimulus|stimulation of inflammatory response to antigenic stimulus|upregulation of inflammatory response to antigenic stimulus owl:Class GO:0050729 biolink:NamedThing positive regulation of inflammatory response Any process that activates or increases the frequency, rate or extent of the inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl upregulation of inflammatory response|up regulation of inflammatory response|activation of inflammatory response|stimulation of inflammatory response|up-regulation of inflammatory response owl:Class MONDO:0010992 biolink:NamedThing Ayme-Gripp syndrome tmpaxzxjjyw_mondo_relaxed.owl cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability|AYGRP|AYME-Gripp syndrome|Ayme-Gripp syndrome|Aymé-Gripp syndrome|cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation MESH:C563390|UMLS:C1832812|Orphanet:477668|EFO:0009020|OMIM:601088|DOID:0111688 owl:Class MONDO:0007382 biolink:NamedThing Ramos-Arroyo syndrome Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation|Ramos-Arroyo syndrome|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and intellectual disability|corneal anesthesia-deafness-intellectual disability syndrome|Ramos Arroyo Clark syndrome|corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and intellectual disability|congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation GARD:0004636|MESH:C535286|Orphanet:1051|OMIM:122430|ICD10:Q87.8|UMLS:C2930866 owl:Class UBERON:0003288 biolink:NamedThing meninx of midbrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11103 biolink:NamedThing Hepacivirus C tmpaxzxjjyw_mondo_relaxed.owl hepatitis C virus HCV|human hepatitis C virus|post-transfusion hepatitis non A non B virus|Hepatitis C virus|HCV|human hepatitis virus C HCV|human hepatitis C virus HCV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11102 biolink:NamedThing Hepacivirus tmpaxzxjjyw_mondo_relaxed.owl Hepatitis C-like viruses|Hepatitis C viruses|Hepatitis C virus group GC_ID:1 ncbi_taxonomy owl:Class GO:0033145 biolink:NamedThing positive regulation of intracellular steroid hormone receptor signaling pathway Any process that activates or increases the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of steroid hormone receptor signalling pathway|positive regulation of steroid hormone receptor signaling pathway owl:Class CHEBI:83813 biolink:NamedThing proteinogenic amino acid Any of the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. Apart from glycine, which is non-chiral, all have L configuration. tmpaxzxjjyw_mondo_relaxed.owl canonical amino acids|proteinogenic amino acids|canonical amino acid owl:Class GO:0015804 biolink:NamedThing neutral amino acid transport The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002832 biolink:NamedThing endometrial transitional cell carcinoma A rare primary carcinoma of the endometrium characterized by the presence of malignant epithelial cells resembling urothelial transitional cells. The malignant transitional cells constitute at least 90% of the tumor cells. tmpaxzxjjyw_mondo_relaxed.owl endometrial transitional cell carcinoma NCIT:C40154|DOID:4005|UMLS:C1516864 owl:Class MONDO:0002447 biolink:NamedThing endometrial carcinoma A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation. tmpaxzxjjyw_mondo_relaxed.owl carcinoma, endometrial, malignant|endometrial carcinoma|endometrium carcinoma|endometrial carcinoma (disease)|endometrial cancer|carcinoma of endometrium|carcinoma of the endometrium endometrial carcinoma (disease) ONCOTREE:UCEC|NCIT:C7558|UMLS:C0476089|SCTID:254878006|DOID:2871|HP:0012114 owl:Class MONDO:0001412 biolink:NamedThing conjunctival concretion tmpaxzxjjyw_mondo_relaxed.owl SCTID:13706005|ICD9:372.54|ICD10:H11.12|DOID:11988 owl:Class MONDO:0060592 biolink:NamedThing Sweeney-Cox syndrome tmpaxzxjjyw_mondo_relaxed.owl Sweeney-Cox syndrome|SWCOS OMIM:617746|DOID:0080538|UMLS:C4540299 owl:Class MONDO:0022551 biolink:NamedThing Basedow's coma A polygenic and multifactorial disease that develops as a result of a complex interplay between genetic susceptibility and environmental and endogenous factors, which leads to the loss of immune tolerance to thyroid antigens and in particular to the TSH receptor. tmpaxzxjjyw_mondo_relaxed.owl Karl Adolph von Basedow|Coma basedovicum GARD:0008177 https://rarediseases.info.nih.gov/diseases/8177/basedows-coma owl:Class MONDO:0017991 biolink:NamedThing Takayasu arteritis Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm. tmpaxzxjjyw_mondo_relaxed.owl TA|pharyngeal arch artery syndromic disease|aortic arch arteritis|Takayasu arteritis|Takayasu's arteritis|Young female arteritis|pulseless disease|idiopathic aortitis|Takayasu disease|aortic Arch syndrome|Takayasu's disease NCIT:C34391|Orphanet:3287|MedDRA:10043097|DOID:2508|SCTID:239937004|UMLS:C0039263|ICD10:M31.4|GARD:0007730|EFO:1001857|NCIT:C35062|ICD9:446.7|MESH:D013625|OMIM:207600 owl:Class MONDO:0000376 biolink:NamedThing respiratory system cancer A malignant neoplasm involving the respiratory system tmpaxzxjjyw_mondo_relaxed.owl respiratory system cancer|malignant neoplasm of respiratory system|cancer of respiratory system|malignant respiratory system neoplasm SCTID:449096009|UMLS:C3164456|ICD9:165.9|ICD9:165.8|DOID:0050615 owl:Class MONDO:0021761 biolink:NamedThing acral dysostosis dyserythropoiesis syndrome An erythrocytic disorder that is characterized by macrocytosis and megaloblastic changes of the bone marrow cells, with additional morphological defects of hands and feet. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000478 https://rarediseases.info.nih.gov/diseases/478/acral-dysostosis-dyserythropoiesis-syndrome owl:Class HGNC:14508 biolink:NamedThing MRPS22 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003647 biolink:NamedThing atrophic flaccid tympanic membrane tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155470|DOID:5781|ICD10:H73.81|ICD9:384.81|SCTID:38645004 owl:Class MONDO:0009012 biolink:NamedThing multiple pterygium-malignant hyperthermia syndrome Malignant hyperthermia-arthrogryposis-torticollisis an extremely rare arthrogryposis syndrome, described in only two pairs of siblings from two unrelated families to date, and characterized by the association of arthrogryposis, congenital torticollis, dysmorphic facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988. tmpaxzxjjyw_mondo_relaxed.owl froster-Iskenius-Waterson syndrome|contractures, congenital, torticollis, and malignant hyperthermia|malignant hyperthermia arthrogryposis torticollis|froster-Iskenius-Waterson-Hall syndrome|malignant hyperthermia - arthrogryposis - torticollis|malignant hyperthermia-arthrogryposis-torticollis syndrome OMIM:217150|MESH:C565679|GARD:0003361|UMLS:C1857576|Orphanet:2215|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/3361/malignant-hyperthermia-arthrogryposis-torticollis owl:Class MONDO:0017263 biolink:NamedThing inherited ichthyosis syndromic form A inherited ichthyosis that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic inherited ichthyosis|syndrome associated with inherited ichthyosis Orphanet:281085 owl:Class MONDO:0008890 biolink:NamedThing progressive bulbar palsy Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms. tmpaxzxjjyw_mondo_relaxed.owl Fazio-Londe disease|bulbar palsy, progressive, of childhood|progressive bulbar atrophy ICD10:G12.22|Orphanet:56965|MESH:D010244|NCIT:C85026|GARD:0010928|DOID:681|ICD9:335.22|UMLS:C0030442|EFO:0003783|SCTID:54304004|OMIM:211500 https://rarediseases.info.nih.gov/diseases/10928/progressive-bulbar-palsy|https://github.com/monarch-initiative/mondo/issues/127 owl:Class MONDO:0006973 biolink:NamedThing skin appendage carcinoma A carcinoma arising from the sebaceous glands, sweat glands, or the hair follicles. Representative examples include sebaceous carcinoma, apocrine carcinoma, eccrine carcinoma, and pilomatrical carcinoma. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of adnexa|skin appendage carcinoma|skin adnexal carcinoma|carcinoma, adnexal, malignant|cutaneous appendage carcinoma|carcinoma of skin appendage|adnexal carcinoma|carcinoma of cutaneous appendage EFO:1001183|ONCOTREE:SKAC|UMLS:C0206697|MedDRA:10040798|MESH:D018280|ICDO:8390/3|NCIT:C3775 owl:Class NCBITaxon:11089 biolink:NamedThing Yellow fever virus tmpaxzxjjyw_mondo_relaxed.owl YFV|Flavivirus febricis|yellow fever virus YFV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:140564 biolink:NamedThing Ornithodoros parkeri tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6937 biolink:NamedThing Ornithodoros tmpaxzxjjyw_mondo_relaxed.owl relapsing fever ticks|Alectorobius GC_ID:1 NCBITaxon:352063 ncbi_taxonomy owl:Class MONDO:0018098 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1E (DES) Autosomal dominant limb-girdle muscular dystrophy type 1E (LGMD1E) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult onset of progressive cardiac conduction defects that begin with cardiac dysrhythmia. Congestive heart failure and symptoms of progressive muscle weakness (present in a proximal distribution) tend to occur later. Affected patients may present only the cardiac features of the disease. Additional features include exertional dyspnea, calf hypertrophy, elevated creatine kinase serum levels and muscle cytoplasmic inclusions. tmpaxzxjjyw_mondo_relaxed.owl limb-girdle muscular dystrophy type 1E|LGMD1E DOID:0110305|GARD:0012529|UMLS:C3148763|Orphanet:34517|ICD10:G71.0 Terminology notes: See comments for LGMD1D owl:Class UBERON:5102389 biolink:NamedThing manual digit digitopodial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024266 biolink:NamedThing patent ductus arteriosus 3 Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene. tmpaxzxjjyw_mondo_relaxed.owl PDA3|patent ductus arteriosus caused by mutation in PRDM6|patent ductus arteriosus 3|PRDM6 patent ductus arteriosus OMIM:617039|Orphanet:466729 owl:Class MONDO:0011827 biolink:NamedThing patent ductus arteriosus A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure. tmpaxzxjjyw_mondo_relaxed.owl persistent patency of the arterial duct|patent ductus arteriosus familial (type)|patency of the ductus arteriosus|PDA|patent ductus botalli|ductus arteriosus, patent|patent ductus arteriosus NCIT:C84492|ICD10:Q25.0|OMIM:607411|OMIMPS:607411|SCTID:83330001|MESH:D004374|ICD9:747.0|GARD:0007342|DOID:13832|Orphanet:706 https://rarediseases.info.nih.gov/diseases/7342/patent-ductus-arteriosus owl:Class GO:0070562 biolink:NamedThing regulation of vitamin D receptor signaling pathway Any process that modulates the frequency, rate or extent of vitamin D receptor signaling pathway activity. tmpaxzxjjyw_mondo_relaxed.owl regulation of VDR signaling pathway|regulation of vitamin D receptor signalling pathway owl:Class MONDO:0020128 biolink:NamedThing motor neuron disorder A disease involving the motor neuron. tmpaxzxjjyw_mondo_relaxed.owl disorder of motor neuron|motor neuron disease|disease or disorder of motor neuron|motor neuron disease or disorder|disease of motor neuron|anterior horn cell disease ICD9:335.2|ICD10:G12.2|EFO:0003782|DOID:231|ICD9:335.8|SCTID:37340000|MESH:D016472|Orphanet:98503|ICD9:335.9|ICD10:G12.20|MedDRA:10028003 owl:Class MONDO:0007927 biolink:NamedThing congenital macroglossia tmpaxzxjjyw_mondo_relaxed.owl macroglossia ICD9:750.15|ICD10:Q38.2|Orphanet:2430|MESH:C531735|SCTID:270516002|UMLS:C0024421|OMIM:153630 owl:Class MONDO:0015496 biolink:NamedThing macroglossia The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992) tmpaxzxjjyw_mondo_relaxed.owl giant tongue|enlarged tongue Orphanet:156207|GARD:0003342|MESH:C531735|UMLS:C0024421|MedDRA:10025391|MESH:D008260|ICD10:Q38.2 owl:Class NBO:0000011 biolink:NamedThing social behavior "A behavior that occurs predominantly or only, in individuals that are part of a group." [Wikipedia:Social_behavior] tmpaxzxjjyw_mondo_relaxed.owl social behaviour owl:Class MONDO:0015555 biolink:NamedThing plaque-form urticaria pigmentosa tmpaxzxjjyw_mondo_relaxed.owl Orphanet:158769|ICD10:Q82.2 owl:Class MONDO:0019316 biolink:NamedThing maculopapular cutaneous mastocytosis Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. tmpaxzxjjyw_mondo_relaxed.owl urticaria pigmentosa/maculopapular cutaneous mastocytosis|telangiectatic cutaneous mastocytosis|Paucicellular mastocytosis|telangiectasia macularis eruptive perstans|UP/MPCM|urticaria pigmentosa ICD9:708.8|UMLS:C0042111|MedDRA:10046752|NCIT:C3433|OMIM:154800|GARD:0013079|ICD10:Q82.2|SCTID:78745000|DOID:12309|Orphanet:79457|ICDO:9740/1 owl:Class MONDO:0010358 biolink:NamedThing hypophosphatemic rickets, X-linked recessive Any X-linked hypophosphatemic rickets in which the cause of the disease is a mutation in the CLCN5 gene. tmpaxzxjjyw_mondo_relaxed.owl hypophosphatemic rickets, X-linked recessive|X-linked hypophosphatemic rickets caused by mutation in CLCN5|CLCN5 X-linked hypophosphatemic rickets DOID:0080353|OMIM:300554 Editor note: ORDO inclides a btnt xref to this from Dent disease type 1, presumably due to the fact rickets is sometimes a feature of dent disease. We capture this separately in annotations owl:Class GO:0043558 biolink:NamedThing regulation of translational initiation in response to stress Any process that modulates the frequency, rate or extent of translation initiation, as a result of a stimulus indicating the organism is under stress. tmpaxzxjjyw_mondo_relaxed.owl regulation of translation initiation in response to stress owl:Class MONDO:0009334 biolink:NamedThing hemolytic anemia with thermal sensitivity of red cells tmpaxzxjjyw_mondo_relaxed.owl hemolytic anemia with thermal sensitivity of red cells MESH:C565522|Orphanet:288|UMLS:C1856158|OMIM:235370 owl:Class MONDO:0001668 biolink:NamedThing internal pathological resorption of tooth tmpaxzxjjyw_mondo_relaxed.owl pink tooth of mummery|internal pathologic resorption|pink spot lesion of tooth|internal granuloma of pulp|internal resorption of tooth|internal resorption of crown of tooth|pathological tooth resorption - internal|internal pathological resorption DOID:13239|SCTID:52994003|ICD9:521.41 owl:Class MONDO:0001129 biolink:NamedThing nasal cavity olfactory neuroblastoma An olfactory neuroblastoma arising in the nasal cavity. tmpaxzxjjyw_mondo_relaxed.owl olfactory neuroblastoma of the nasal cavity|nasal cavity olfactory neuroblastoma|olfactory neuroblastoma of nasal cavity NCIT:C7604|UMLS:C1334923|DOID:10812 owl:Class UBERON:4000020 biolink:NamedThing mineralized extracellular matrix tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2212703 biolink:NamedThing Mucoromycetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008876 biolink:NamedThing Bloom syndrome Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer. tmpaxzxjjyw_mondo_relaxed.owl growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability|MGRISCE1|congenital telangiectatic erythema|BLM|Bloom syndrome|Bloom-Torre-Machacek syndrome|congenital telangiectatic erythema syndrome|BSyn|BLS|BS|microcephaly, growth restriction, and increased sister chromatid exchange 1 ICD9:757.39|UMLS:C0005859|MESH:D001816|DOID:2717|NCIT:C2903|GARD:0000915|OMIM:210900|ICD10:Q82.2|Orphanet:125|SCTID:4434006 https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome owl:Class MONDO:0014035 biolink:NamedThing severe intellectual disability-progressive spastic diplegia syndrome Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal dominant type 19|severe intellectual disability-progressive spastic diplegia syndrome|CTNNB1-related intellectual disability|intellectual disability, autosomal dominant type 19|autosomal dominant intellectual disability 19|intellectual disability, autosomal dominant 19|autosomal dominant non-syndromic intellectual disability 19|mental retardation, autosomal dominant 19|MRD19|autosomal dominant mental retardation 19 DOID:0070049|ICD10:G11.4|UMLS:C3554449|GARD:0003505|Orphanet:404473|OMIM:615075 https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome owl:Class GO:0032892 biolink:NamedThing positive regulation of organic acid transport Any process that activates or increases the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl stimulation of organic acid transport|up regulation of organic acid transport|activation of organic acid transport|up-regulation of organic acid transport|upregulation of organic acid transport owl:Class MONDO:0019254 biolink:NamedThing inborn disorder of purine or pyrimidine metabolism tmpaxzxjjyw_mondo_relaxed.owl inborn errors of purine-pyrimidine metabolism|purine-pyrimidine metabolic disorder|inborn purine-pyrimidine metabolic disorder|disorder of purine or pyrimidine metabolism ICD9:277.2|Orphanet:79224|ICD10:E79.9|ICD10:E79.8|ICD10:E79.0|ICD10:E79.1|UMLS:C0034139|MESH:D011686|MedDRA:10037546|DOID:653 owl:Class GO:1901861 biolink:NamedThing regulation of muscle tissue development Any process that modulates the frequency, rate or extent of muscle tissue development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010417 biolink:NamedThing syndromic X-linked intellectual disability Najm type Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. tmpaxzxjjyw_mondo_relaxed.owl mental retardation and microcephaly with PONTINE and cerebellar hypoplasia|Micpch syndrome|X-linked intellectual disability, Najm type|syndromic X-linked intellectual disability Najm type|mental retardation, X-linked, syndromic, Najm type|MICPCH|mental retardation and microcephaly with pontine and cerebellar hypoplasia|X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia|microcephaly with pontine and cerebellar hypoplasia|intellectual disability and microcephaly with pontine and cerebellar hypoplasia|X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia|intellectual disability, X-linked, syndromic, Najm type UMLS:C2677903|MESH:C567466|OMIM:300749|ICD10:Q04.3|Orphanet:163937|GARD:0012669|DOID:0060807 owl:Class UBERON:0000093 biolink:NamedThing sulcus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010805 biolink:NamedThing bladder exstrophy Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. tmpaxzxjjyw_mondo_relaxed.owl bladder exstrophy|bladder exstrophy and epispadias Complex|bladder exstrophy (disease)|exstrophy of bladder|ectopia vesicae|exstrophy of the bladder|classic exstrophy of the bladder bladder exstrophy (disease) DOID:0080174|Orphanet:322|ICD10:Q64.1|UMLS:C0005689|HP:0002836|UMLS:C1838703|SCTID:61758007|OMIM:600057|GARD:0006398|ICD9:753.5|NCIT:C123207|Orphanet:93930 owl:Class MONDO:0017919 biolink:NamedThing bladder exstrophy-epispadias-cloacal exstrophy complex A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus. tmpaxzxjjyw_mondo_relaxed.owl EEC|bladder exstrophy-epispadias-cloacal extrophy complex|BEEC|exstrophy-epispadias complex Orphanet:322|ICD10:Q64.1|UMLS:C1838703|GARD:0002207|OMIM:600057|DOID:0080173|OMIM:258040 owl:Class MONDO:0017314 biolink:NamedThing Ehlers-Danlos syndrome, vascular type Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome type 4 (formerly)|Ehlers-Danlos syndrome type 4|Ehlers Danlos syndrome, sack-Barabas type|sack-Barabas syndrome|EDS IV|Ehlers-Danlos syndrome, type IV|EDS4 (formerly)|Ehlers-Danlos syndrome type IV|EDS type 4|Ehlers-Danlos syndrome type IV (formerly)|Ehlers-Danlos syndrome, vascular type|EDS IV (formerly)|vEDS|vascular EDS|Ehlers Danlos syndrome, ecchymotic type|Ehlers Danlos syndrome, arterial type|vascular Ehlers-Danlos syndrome|EDS type 4 (formerly) NCIT:C125699|ICD10:Q79.6|SCTID:17025000|Orphanet:286|OMIM:130050|GARD:0002082 owl:Class MONDO:0021184 biolink:NamedThing deltaretrovirus infections Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED). tmpaxzxjjyw_mondo_relaxed.owl infections, Deltaretrovirus|HTLV-BLV infection|HTLV BLV infections|Deltaretrovirus infection|HTLV-BLV infections|BLV infection|HTLV infections|HTLV infection|BLV infections|infection, Deltaretrovirus MESH:D006800 owl:Class MONDO:0040675 biolink:NamedThing myofibroblastoma A benign, well circumscribed soft tissue neoplasm characterized by the presence of spindle shaped myofibroblasts and mast cells in a collagenous stroma. tmpaxzxjjyw_mondo_relaxed.owl myofibroblastoma NCIT:C49012|ICDO:8825/0 owl:Class MONDO:0700090 biolink:NamedThing epilepsy, familial temporal lobe, 1 An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations. tmpaxzxjjyw_mondo_relaxed.owl ETL1|epilepsy, lateral temporal lobe, autosomal dominant|epilepsy, familial temporal lobe, type 1|epilepsy, partial, with auditory features OMIM:600512|NCIT:C141441 http://orcid.org/0000-0002-4142-7153 https://github.com/monarch-initiative/mondo/issues/2614 owl:Class MONDO:0010898 biolink:NamedThing Autosomal dominant epilepsy with auditory features A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution. tmpaxzxjjyw_mondo_relaxed.owl familial temporal lobe epilepsy 1|ADLTE|ADEAF|epilepsy, familial temporal lobe, 1|epilepsy, lateral temporal lobe, autosomal dominant|ETL1|familial temporal lobe epilepsy type 1|autosomal dominant epilepsy with auditory features|partial epilepsy with auditory features|epilepsy, familial temporal lobe, type 1|autosomal dominant partial epilepsy with auditory features|epilepsy, partial, with auditory features|epilepsy, familial temporal lobe 1|ADPEAF|autosomal dominant lateral temporal lobe epilepsy|partial epilepsy with auditory aura|Autosomal dominant epilepsy with auditory features UMLS:C1838062|GARD:0002257|DOID:0060748|OMIM:616461|OMIM:616436|Orphanet:101046|MESH:C537297|OMIM:600512|NCIT:C141441 Editor note: split out generic type https://github.com/monarch-initiative/mondo/issues/1134|https://github.com/monarch-initiative/mondo/issues/2614 owl:Class MONDO:0020020 biolink:NamedThing visceral malformation of the liver, biliary tract, pancreas or spleen tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98041 owl:Class MONDO:0010824 biolink:NamedThing disorder of sex development-intellectual disability syndrome Verloes-Gillerot-Fryns syndrome is a rare association of malformations. tmpaxzxjjyw_mondo_relaxed.owl male pseudohermaphroditism/mental retardation syndrome, Verloes type|pseudohermaphroditism-intellectual disability syndrome|Verloes Gillerot Fryns syndrome|Verloes syndrome|Male pseudohermaphroditism intellectual disability syndrome, Verloes type|Verloes-Gillerot-Fryns syndrome|disorder of sex development intellectual disability|male pseudohermaphroditism/intellectual disability syndrome, Verloes type MESH:C535693|GARD:0004550|ICD10:Q56.3|SCTID:719450007|Orphanet:2983|OMIM:600122 owl:Class MONDO:0009177 biolink:NamedThing late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa, late-onset localized junctional, with mental retardation|epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders|epidermolysis bullosa, late-onset localized junctional, with intellectual disability OMIM:226440|UMLS:C1856969|GARD:0000299|ICD10:Q81.8|Orphanet:231556|MESH:C535492 owl:Class MONDO:0019725 biolink:NamedThing pediatric systemic lupus erythematosus tmpaxzxjjyw_mondo_relaxed.owl SLE, pediatric onset ICD10:M32.0|ICD10:M32.9|ICD10:M32.8|Orphanet:93552|ICD10:M32.1 owl:Class MONDO:0011813 biolink:NamedThing polydactyly, postaxial, type A3 tmpaxzxjjyw_mondo_relaxed.owl postaxial polydactyly, type A3|Papa3|PAPA3|polydactyly, postaxial, type A3 MESH:C564590|OMIM:607324|UMLS:C1846452|Orphanet:93334 owl:Class MONDO:0012288 biolink:NamedThing iridogoniodysgenesis and skeletal anomalies tmpaxzxjjyw_mondo_relaxed.owl iridogoniodysgenesis and skeletal anomalies MESH:C535534|OMIM:609515|UMLS:C1836074|GARD:0010058 https://rarediseases.info.nih.gov/diseases/10058/iridogoniodysgenesis-and-skeletal-anomalies owl:Class MONDO:0006763 biolink:NamedThing frozen shoulder Inflammation or irritation of a bursa, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin. tmpaxzxjjyw_mondo_relaxed.owl adhesions-capsulitis,shoulder|adhesive capsulitis of shoulder SCTID:399114005|ICD9:726.0|UMLS:C0311223|ICD10:M75.0|MedDRA:10017391|DOID:14188|EFO:1000941 owl:Class MONDO:0006632 biolink:NamedThing osteoarthritis, hand Osteoarthritis of the hands usually happens as part of nodal osteoarthritis (a form of osteoarthritis that runs in families). This mainly affects women and often starts in your 40s or 50s, around the menopause (the time when menstruation ends and it’s no longer possible to have children). tmpaxzxjjyw_mondo_relaxed.owl EFO:1000789 owl:Class MONDO:0013016 biolink:NamedThing leukocyte adhesion deficiency 3 Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD characterized by both severe bacterial infections and a severe bleeding disorder. tmpaxzxjjyw_mondo_relaxed.owl leukocyte adhesion deficiency, type 3|LAD1 variant|leukocyte adhesion deficiency, type III|leukocyte adhesion deficiency 3|integrin activation deficiency disease|FERMT3 leukocyte adhesion deficiency|IADD|LAD1V|LAD3|leukocyte adhesion deficiency type 3|leukocyte adhesion deficiency-1 variant|lad-1 variant|leukocyte adhesion deficiency 1 variant|integrin Activation deficiency disease|lad-III|leukocyte adhesion deficiency caused by mutation in FERMT3|leukocyte adhesion deficiency type III DOID:0110912|UMLS:C2748536|MESH:C567555|OMIM:612840|Orphanet:2968|ICD10:D84.8|Orphanet:99844 owl:Class GO:0050982 biolink:NamedThing detection of mechanical stimulus The series of events by which a mechanical stimulus is received and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:8410018 biolink:NamedThing right colic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002017 biolink:NamedThing portal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002757 biolink:NamedThing acute allergic sanguinous otitis media A acute sanguinous otitis media caused by an allergen. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155420|DOID:3728|SCTID:17866004|ICD9:381.06 owl:Class MONDO:0002737 biolink:NamedThing acute sanguinous otitis media A acute transudative otitis media which involves bloody effusion. tmpaxzxjjyw_mondo_relaxed.owl ICD9:381.03|UMLS:C0395865|DOID:3696|SCTID:77478005 owl:Class GO:0032891 biolink:NamedThing negative regulation of organic acid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl down regulation of organic acid transport|inhibition of organic acid transport|downregulation of organic acid transport|down-regulation of organic acid transport owl:Class HGNC:7427 biolink:NamedThing MT-CYB tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045702 biolink:NamedThing positive regulation of spermatid nuclear differentiation Any process that activates or increases the frequency, rate or extent of spermatid nuclear differentiation. tmpaxzxjjyw_mondo_relaxed.owl upregulation of spermatid nuclear differentiation|activation of spermatid nuclear differentiation|up regulation of spermatid nuclear differentiation|stimulation of spermatid nuclear differentiation|up-regulation of spermatid nuclear differentiation owl:Class HGNC:9879 biolink:NamedThing RASGRP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010981 biolink:NamedThing absent tibia-polydactyly-arachnoid cyst syndrome Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. tmpaxzxjjyw_mondo_relaxed.owl Holmes-Collins syndrome|tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies|absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies|Holmes Collins syndrome|tibia, absence or hypoplasia of, with polydactyly, RETROCEREBELLAR arachnoid cyst, and other anomalies|tibia absent polydactyly arachnoid cyst GARD:0005210|OMIM:601027|MESH:C563403|SCTID:733068001|Orphanet:3328 https://rarediseases.info.nih.gov/diseases/5210/tibia-absent-polydactyly-arachnoid-cyst owl:Class MONDO:0006754 biolink:NamedThing esophageal diverticulosis A pathological condition characterized by the presence of a number of esophageal diverticula in the esophagus. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0917875|DOID:13185|MESH:D045723|EFO:1000930 owl:Class MONDO:0015295 biolink:NamedThing intractable diarrhea-choanal atresia-eye anomalies syndrome Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226653|ICD10:Q87.8|Orphanet:137622 owl:Class MONDO:0016474 biolink:NamedThing drug-induced lupus erythematosus An autoimmune disorder, similar to systemic lupus erythematosus, that is caused by certain drugs. tmpaxzxjjyw_mondo_relaxed.owl drug induced lupus|drug induced lupus erythematosus|DIL|drug-induced lupus|DILE Orphanet:231111|UMLS:C0263591|NCIT:C114354|DOID:0040093|MedDRA:10013706|ICD10:M32.0|SCTID:80258006 owl:Class PATO:0000998 biolink:NamedThing viscous A viscosity quality inhering in a bearer by virtue of the bearer's having viscosity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0030236 biolink:NamedThing Abnormality of muscle size Abnormalities of the overall muscle bulk based on clinical observation. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of muscle size UMLS:C4022563 human_phenotype owl:Class MONDO:0006645 biolink:NamedThing alcoholic polyneuropathy Any disease affecting more than one nerve. tmpaxzxjjyw_mondo_relaxed.owl alcohol-related polyneuropathy|alcoholic neuropathy ICD10:G62.1|ICD9:357.5|MESH:D020269|SCTID:7916009|UMLS:C0085677|NCIT:C26926|EFO:1000803|DOID:14183 owl:Class UBERON:0013192 biolink:NamedThing ovarian medulla tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017045 biolink:NamedThing neuroectodermal-endocrine syndrome Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar. tmpaxzxjjyw_mondo_relaxed.owl neuroectodermal endocrine syndrome|Oerter-Friedman-Anderson syndrome ICD10:E31.8|SCTID:724090001|GARD:0003959|Orphanet:2676|UMLS:CN202391 https://rarediseases.info.nih.gov/diseases/3959/neuroectodermal-endocrine-syndrome owl:Class ECTO:9001793 biolink:NamedThing exposure to anaesthetic An exposure to anaesthetic. tmpaxzxjjyw_mondo_relaxed.owl exposure to anaesthetic owl:Class MONDO:0007791 biolink:NamedThing familial hypocalciuric hypercalcemia 1 Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene. tmpaxzxjjyw_mondo_relaxed.owl hypocalciuric hypercalcemia, acquired|familial benign hypercalcemia 1|hypocalciuric hypercalcemia, familial, type I|FBH1|familial benign hypercalcemia type 1|hypocalciuric hypercalcemia, familial, type 1|familial hypocalciuric hypercalcemia type I|FHH type 1|HHC1|Fhh1|CASR familial hypocalciuric hypercalcemia|familial hypocalciuric hypercalcemia type 1|familial hypocalciuric hypercalcemia caused by mutation in CASR|hypercalcemia, familial benign|hypercalcemia, familial benign type 1|hypocalciuric hypercalcemia type I Orphanet:405|SCTID:704166007|GARD:0002796|MESH:C537145|MedDRA:10068704|UMLS:C1809471|DOID:0060700|ICD10:E83.5|UMLS:C0342637|OMIM:145980|Orphanet:93372 owl:Class MONDO:0033672 biolink:NamedThing Duane anomaly-myopathy-scoliosis syndrome Duane anomaly-myopathy-scoliosis syndrome is characterised by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:50817 owl:Class MONDO:0011182 biolink:NamedThing trimethylaminuria A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. tmpaxzxjjyw_mondo_relaxed.owl TMAU|TMAuria|trimethylaminuria|trimethylaminuria (disease)|fish malodor syndrome|stale fish syndrome|fish odor syndrome|fish-odor syndrome trimethylaminuria (disease) Orphanet:35056|GARD:0006447|MESH:C536561|OMIM:602079|DOID:0080361|SCTID:237959005|HP:0003614|UMLS:C0342739 https://github.com/monarch-initiative/mondo/issues/3448 owl:Class MONDO:0011610 biolink:NamedThing dimethylglycine dehydrogenase deficiency An extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl Dmgdh deficiency|dimethylglycine dehydrogenase activity disease|DMGDH deficiency|DMGDHD|dimethylglycine dehydrogenase deficiency|DMG dehydrogenase deficiency|disorder of dimethylglycine dehydrogenase activity SCTID:719449007|Orphanet:243343|UMLS:C1853892|ICD10:E72.5|OMIM:605850|MESH:C565278 owl:Class NCBITaxon:318477 biolink:NamedThing Dracunculidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:55872 biolink:NamedThing Dracunculoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005309 biolink:NamedThing spinal fracture Traumatic or pathological injury to the spine in which the continuity of a vertebral bone is broken. Symptoms include back pain and difficulty bending and twisting. tmpaxzxjjyw_mondo_relaxed.owl vertebral column bone fracture|bone fracture of vertebral column EFO:0003902|NCIT:C80516|MESH:D016103|SCTID:50448004 owl:Class HP:0009473 biolink:NamedThing Joint contracture of the hand Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. tmpaxzxjjyw_mondo_relaxed.owl Contractures involving the hands|Contractures of the hands SNOMEDCT_US:86414002|MEDDRA:10010821|UMLS:C0158113 doelkens 2009-01-15T09:59:59Z HP:0004094|HP:0009472|HP:0006255|HP:0006238|HP:0001237|HP:0001160|HP:0006096|HP:0005814|HP:0006173|HP:0010563|HP:0009409|HP:0006215 human_phenotype owl:Class HP:0009810 biolink:NamedThing Abnormality of upper limb joint tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the joints of the upper limbs|Abnormality of upper limb joint UMLS:C4021387 doelkens 2009-02-23T04:57:56Z human_phenotype owl:Class MONDO:0011830 biolink:NamedThing lissencephaly due to LIS1 mutation Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. tmpaxzxjjyw_mondo_relaxed.owl lissencephaly type 1|PAFAH1B1-related lissencephaly|lissencephaly, classic|subcortical band heterotopia|lissencephaly sequence, isolated|LIS1|subcortical laminar heterotopia|lissencephaly 1 Orphanet:99796|UMLS:CN228917|OMIM:607432|ICD10:Q04.3|Orphanet:95232 owl:Class MONDO:0015146 biolink:NamedThing classic lissencephaly tmpaxzxjjyw_mondo_relaxed.owl ILS|lissencephaly type 1|lissencephaly sequence isolated|lissencephaly classic GARD:0005049|Orphanet:102009|ICD10:Q04.3 owl:Class MONDO:0004562 biolink:NamedThing breast apocrine carcinoma in situ A ductal breast carcinoma in situ, characterized by the presence of neoplastic epithelial cells with apocrine differentiation. tmpaxzxjjyw_mondo_relaxed.owl apocrine carcinoma in situ of breast|apocrine carcinoma in situ of the breast|apocrine breast carcinoma in situ UMLS:C1332315|NCIT:C5140|DOID:8428 owl:Class MONDO:0004658 biolink:NamedThing breast carcinoma in situ A in situ carcinoma that involves the breast. tmpaxzxjjyw_mondo_relaxed.owl stage 0 carcinoma of the breast|stage 0 breast carcinoma in situ|in situ breast cancer|stage 0 breast cancer aJCC v6|stage 0 breast cancer aJCC v7|non-infiltrating carcinoma of the breast|breast in situ carcinoma|carcinoma in situ of breast|non-invasive carcinoma of the breast|non-invasive carcinoma of breast|carcinoma in situ of the breast|breast cancer stage 0|stage 0 breast cancer|stage 0 breast carcinoma|non-infiltrating breast carcinoma|stage 0 carcinoma of breast|breast cancer in situ|stage 0 breast cancer aJCC v6 and v7|breast carcinoma in situ|non-infiltrating carcinoma of breast|non-invasive breast carcinoma SCTID:189336000|ICD10:D05.9|ICD10:D05|UMLS:C0154084|ICD9:233.0|NCIT:C3641|DOID:8791 owl:Class MONDO:0017537 biolink:NamedThing Preaxial polydactyly of toes, unilateral tmpaxzxjjyw_mondo_relaxed.owl bifid halluces, unilateral|bifid great toes, unilateral|bifid hallux, unilateral Orphanet:295175|ICD10:Q69.2 owl:Class GO:1903829 biolink:NamedThing positive regulation of cellular protein localization Any process that activates or increases the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpaxzxjjyw_mondo_relaxed.owl up regulation of cellular protein localisation|up regulation of cellular protein localization|activation of cellular protein localization|up-regulation of channel localizer activity|upregulation of cellular protein localisation|positive regulation of channel localizer activity|upregulation of channel localizer activity|activation of cellular protein localisation|activation of channel localizer activity|up-regulation of cellular protein localization|up regulation of channel localizer activity|upregulation of cellular protein localization|up-regulation of cellular protein localisation|positive regulation of cellular protein localisation owl:Class MONDO:0017735 biolink:NamedThing congenital aortic valve stenosis tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q23.0|SCTID:18546004|Orphanet:3093|MedDRA:10010371|ICD9:746.3 owl:Class MONDO:0042981 biolink:NamedThing aortic valve stenosis tmpaxzxjjyw_mondo_relaxed.owl aortic valve stenosis|stenosed aortic valve|aortic stenosis|valvular aortic stenosis GARD:0005830|HP:0001650|SCTID:60573004 owl:Class MONDO:0002806 biolink:NamedThing bronchogenic carcinoma A lung carcinoma arising from the bronchial epithelium. tmpaxzxjjyw_mondo_relaxed.owl bronchial carcinoma|bronchogenic lung cancer|bronchiogenic carcinoma|bronchogenic lung carcinoma|BC - bronchogenic carcinoma|bronchogenic carcinoma|carcinoma, bronchial, malignant|bronchus carcinoma|carcinoma of bronchus SCTID:363493006|NCIT:C35875|EFO:1001942|UMLS:C0007121|DOID:3904|MESH:D002283|CSP:2017-6052|ICD9:162.9|SCTID:254622008 owl:Class MONDO:0003607 biolink:NamedThing neuritis of upper limb A neuritis that involves the forelimb. tmpaxzxjjyw_mondo_relaxed.owl forelimb neuritis|neuritis of forelimb ICD9:354|DOID:572 owl:Class HGNC:18451 biolink:NamedThing MCFD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012004 biolink:NamedThing parathyroid gland carcinoma Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors. tmpaxzxjjyw_mondo_relaxed.owl parathyroid adenocarcinoma|adenocarcinoma of the parathyroid|cancer of parathyroid gland|carcinoma of the parathyroid gland|malignant neoplasm of parathyroid gland|parathyroid gland carcinoma|carcinoma of the parathyroid|parathyroid gland neoplasm|parathyroid cancer|parathyroid neoplasm|parathyroid gland adenocarcinoma|carcinoma of parathyroid|adenocarcinoma of the parathyroid gland|adenocarcinoma of parathyroid|parathyroid gland cancer|adenocarcinoma of parathyroid gland|parathyroid carcinoma|cancer of the parathyroid gland|carcinoma of parathyroid gland|malignant neoplasm of the parathyroid|PRTC GARD:0007329|EFO:1000456|ONCOTREE:PTHC|NCIT:C3313|Orphanet:143|ICD9:194.1|NCIT:C4906|ICD10:C75.0|SCTID:363481002|DOID:1540|SCTID:127020005|SCTID:255037004|NCIT:C9322|OMIM:608266 owl:Class MONDO:0005695 biolink:NamedThing central nervous system AIDS arteritis Inflammation of arteries in the central nervous system that occurs in patients with acquired immunodeficiency syndrome or aids-related opportunistic infections. tmpaxzxjjyw_mondo_relaxed.owl Vasculitides, HIV-1-associated CNS|CNS Vasculitides, HIV-associated|Vasculitides, HIV-associated CNS|vasculitis of the central nervous system, HIV associated|CNS vasculitis, HIV-associated|HIV-1-associated CNS vasculitis|CNS vasculitis, HIV-1-associated|CNS Vasculitides, HIV-1-associated|HIV 1 associated CNS vasculitis|HIV-associated CNS Vasculitides|vasculitis of the central nervous system, HIV-associated|CNS vasculitis, HIV associated|HIV associated vasculitis of the central nervous system|HIV-1-associated CNS Vasculitides|central nervous system AIDS arteritis|HIV-associated vasculitis of the central nervous system|cerebral aneurysmal arteriopathy, AIDS associated|vasculitis, HIV-associated CNS|cerebral aneurysmal arteriopathy, AIDS-associated|HIV-associated CNS vasculitis|AIDS-associated cerebral aneurysmal arteriopathy|AIDS associated cerebral aneurysmal arteriopathy|vasculitis, HIV-1-associated CNS UMLS:C0752330|UMLS:C0752329|EFO:0007198|UMLS:C0752331|MESH:D020943 owl:Class MONDO:0011653 biolink:NamedThing thyroid cancer, nonmedullary, 3 tmpaxzxjjyw_mondo_relaxed.owl thyroid cancer, nonmedullary, 1, formerly|NMTC3|thyroid cancer, nonmedullary, 3|thyroid cancer, nonmedullary, 1 OMIM:606240|UMLS:C1853488|Orphanet:319487 owl:Class MONDO:0017895 biolink:NamedThing familial papillary or follicular thyroid carcinoma A papillary or follicular thyroid gland carcinoma with a genetic component that develops within the same family. Current studies suggest that it is inherited in an autosomal dominant pattern. It is often multifocal and bilateral and usually affects younger patients. tmpaxzxjjyw_mondo_relaxed.owl familial pure nonmedullary thyroid carcinoma|familial nonmedullary thyroid gland carcinoma|FNMTC NCIT:C118829|ICD10:C73|OMIM:606240|OMIM:188550|OMIM:603386|OMIM:603744|UMLS:CN227215|Orphanet:319487|OMIM:616534|OMIM:616535|OMIM:188470|UMLS:C3896673 owl:Class MONDO:0013276 biolink:NamedThing Reynolds syndrome Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). tmpaxzxjjyw_mondo_relaxed.owl primary biliary cirrhosis and systemic scleroderma|Reynolds syndrome|primary biliary cirrhosis, Scleroderma, Raynaud disease, and telangiectasia SCTID:715401008|ICD10:L94.0|Orphanet:779|UMLS:C0748397|OMIM:613471|ICD10:K74.3|GARD:0004697 https://rarediseases.info.nih.gov/diseases/4697/reynolds-syndrome owl:Class OBO:CHR_9606-chr14q1 biolink:NamedThing 14q1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 37400000 17200000 hg38 owl:Class UBERON:0010391 biolink:NamedThing parametrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003885 biolink:NamedThing mesometrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004451 biolink:NamedThing trunk or cervical vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:186802 biolink:NamedThing Eubacteriales tmpaxzxjjyw_mondo_relaxed.owl Clostridiales PMID:16558750|PMID:24480908|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0028618 biolink:NamedThing gastroenteric neuroendocrine neoplasm tmpaxzxjjyw_mondo_relaxed.owl Orphanet:481508 owl:Class MONDO:0002468 biolink:NamedThing hyperimmunoglobulin syndrome tmpaxzxjjyw_mondo_relaxed.owl hyperimmunoglobulin syndrome UMLS:C1334069|NCIT:C27579|DOID:2959 owl:Class MONDO:0009533 biolink:NamedThing Dahlberg-Borer-Newcomer syndrome Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. tmpaxzxjjyw_mondo_relaxed.owl lymphedema hypoparathyroidism syndrome|hypoparathyroidism-lymphedema syndrome|lymphedema-hypoparathyroidism syndrome|hypoparathyroidism lymphedema syndrome|Dahlberg Borer Newcomer syndrome|Dahlberg syndrome OMIM:247410|GARD:0000237|MESH:C535769|UMLS:C1855477|SCTID:721083007|Orphanet:1563|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/237/dahlberg-borer-newcomer-syndrome owl:Class MONDO:0004548 biolink:NamedThing adult type testicular granulosa cell tumor A rare sex cord-stromal tumor that arises from the testis in adults. Gynecomastia is present in approximately a quarter of the patients. Several morphologic patterns have been identified and include insular, gyriform, trabecular, pseudosarcomatous, and solid. Metastases occur in approximately twenty percent of the cases. tmpaxzxjjyw_mondo_relaxed.owl adult testicular granulosa cell tumor|adult type testicular granulosa cell tumor DOID:8394|UMLS:C1515284|NCIT:C39946 owl:Class CHEBI:33637 biolink:NamedThing ortho-fused compound A polycyclic compound in which two rings have two, and only two, atoms in common. Such compounds have n common faces and 2n common atoms. tmpaxzxjjyw_mondo_relaxed.owl ortho-fused compounds|ortho-fused polycyclic compounds owl:Class MONDO:0001023 biolink:NamedThing prolymphocytic leukemia A mature B- or T- cell leukemia with progressive clinical course. It is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. tmpaxzxjjyw_mondo_relaxed.owl prolymphocytic leukemia (B or T-cell)|prolymphocytic leukemia|PLL|prolymphocytic leukemia (B or T) ICDO:9832/3|GARD:0011965|MESH:D015463|UMLS:C0023486|ICD9:204.80|SCTID:110006004|NCIT:C3181|DOID:1039 owl:Class MONDO:0007799 biolink:NamedThing hypophosphatemic bone disease tmpaxzxjjyw_mondo_relaxed.owl HBD|hypophosphatemic bone disease OMIM:146350|UMLS:C1840321|MESH:C564145 owl:Class MONDO:0008113 biolink:NamedThing Schilbach-Rott syndrome Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males. tmpaxzxjjyw_mondo_relaxed.owl cleft palate, hypotelorism, and hypospadias|hypotelorism-cleft palate-hypospadias syndrome|Schilbach-Rott syndrome|BRSS|hypotelorism cleft palate hypospadias|ocular hypotelorism, submucosal cleft palate, and hypospadias|blepharofacioskeletal syndrome ICD10:Q87.8|SCTID:721902002|MESH:C563509|Orphanet:2353|OMIM:164220|GARD:0002930 https://rarediseases.info.nih.gov/diseases/2930/hypotelorism-cleft-palate-hypospadias owl:Class GO:0002866 biolink:NamedThing positive regulation of acute inflammatory response to antigenic stimulus Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. tmpaxzxjjyw_mondo_relaxed.owl up regulation of acute inflammatory response to antigenic stimulus|activation of acute inflammatory response to antigenic stimulus|upregulation of acute inflammatory response to antigenic stimulus|up-regulation of acute inflammatory response to antigenic stimulus|stimulation of acute inflammatory response to antigenic stimulus owl:Class GO:0002675 biolink:NamedThing positive regulation of acute inflammatory response Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl activation of acute inflammatory response|up-regulation of acute inflammatory response|stimulation of acute inflammatory response|upregulation of acute inflammatory response|up regulation of acute inflammatory response owl:Class GO:0016504 biolink:NamedThing peptidase activator activity Binds to and increases the activity of a peptidase, any enzyme that catalyzes the hydrolysis peptide bonds. tmpaxzxjjyw_mondo_relaxed.owl protease activator activity owl:Class MONDO:0009125 biolink:NamedThing dopamine beta-hydroxylase, plasma, thermolability of tmpaxzxjjyw_mondo_relaxed.owl dopamine beta-hydroxylase, plasma, thermolability of 2022-04-01 OMIM:223380 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0017972 biolink:NamedThing classic congenital lipoid adrenal hyperplasia due to STAR deficency tmpaxzxjjyw_mondo_relaxed.owl classic CLAH Orphanet:325524|ICD10:E25.0 owl:Class MONDO:0004520 biolink:NamedThing intratubular embryonal carcinoma Stage 0 includes: pTis, N0, M0, S0. pTis: Intratubular germ cell neoplasia (carcinoma in situ). N0: regional lymph node metastasis. M0: No distant metastasis. S0: Marker study levels within normal limits. (AJCC 6th and 7th eds.) tmpaxzxjjyw_mondo_relaxed.owl stage 0 testicular embryonal carcinoma aJCC v6 and v7|stage 0 testicular embryonal carcinoma aJCC v6|stage 0 testicular embryonal carcinoma|intratubular embryonal carcinoma|stage 0 testicular embryonal carcinoma aJCC v7 NCIT:C7325|UMLS:C1336096|DOID:8275 owl:Class MONDO:0010274 biolink:NamedThing testicular germ cell tumor 1 tmpaxzxjjyw_mondo_relaxed.owl testicular germ cell tumor 1|TGCT1 UMLS:C1846164|OMIM:300228|MESH:C564559 owl:Class HP:0009124 biolink:NamedThing Abnormal adipose tissue morphology An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of fat tissue|Abnormality of adipose tissue|Abnormality of fatty tissue UMLS:C4021524 peter 2008-04-05T11:40:00Z human_phenotype owl:Class MONDO:0044870 biolink:NamedThing acquired torsion dystonia An instance of torsion dystonia that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired torsion dystonia SCTID:433493000|UMLS:C1719382 owl:Class MONDO:0044843 biolink:NamedThing torsion dystonia tmpaxzxjjyw_mondo_relaxed.owl torsion dystonia SCTID:431034009 owl:Class MONDO:0006344 biolink:NamedThing ovarian yolk sac tumor A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular. tmpaxzxjjyw_mondo_relaxed.owl ovarian yolk Sac neoplasm|ovarian yolk sac tumor|germ cell endodermal sinus neoplasm of the ovary|ovarian germ cell endodermal sinus neoplasm|yolk sac tumor|yolk Sac neoplasm of the ovary|yolk Sac tumor of the ovary|germ cell endodermal sinus tumor of the ovary|ovarian endodermal sinus tumor|yolk Sac tumor of ovary|endodermal sinus tumor of ovary|germ cell endodermal sinus tumor of ovary|ovarian endodermal sinus neoplasm|yolk Sac neoplasm of ovary|ovary yolk sac tumor|endodermal sinus neoplasm of ovary|ovarian germ cell endodermal sinus tumor|endodermal sinus neoplasm of the ovary|endodermal sinus tumor of the ovary|germ cell endodermal sinus neoplasm of ovary DOID:5350|UMLS:C0346188|ONCOTREE:OYST|NCIT:C8107|EFO:1000437|SCTID:254876005 owl:Class GO:0017171 biolink:NamedThing serine hydrolase activity Catalysis of the hydrolysis of a substrate by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0008009 biolink:NamedThing transversely striated visceral muscle cell A visceral muscle that is transversely striated. Examples include the visceral muscle cells of arthropods. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0008007 biolink:NamedThing visceral muscle cell A muscle cell that is part of some visceral muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012986 biolink:NamedThing bilateral parasagittal parieto-occipital polymicrogyria tmpaxzxjjyw_mondo_relaxed.owl BTOP|polymicrogyria, bilateral temporooccipital MESH:C567201|Orphanet:208441|ICD10:Q04.3|UMLS:C2675191|OMIM:612691|Orphanet:268940|GARD:0010785 https://rarediseases.info.nih.gov/diseases/10785/bilateral-parasagittal-parieto-occipital-polymicrogyria owl:Class MONDO:0017091 biolink:NamedThing bilateral polymicrogyria Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection. tmpaxzxjjyw_mondo_relaxed.owl OMIM:615752|OMIM:606854|Orphanet:268940|OMIM:616531|OMIM:610031|ICD10:Q04.3|OMIM:614833|SCTID:765757003|OMIM:300388|OMIM:612691 owl:Class MONDO:0100133 biolink:NamedThing mitochondrial complex I deficiency A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene. tmpaxzxjjyw_mondo_relaxed.owl isolated NADH-ubiquinone reductase deficiency|isolated complex I deficiency|complex 1 mitochondrial respiratory chain deficiency|isolated NADH-CoQ reductase deficiency|isolated NADH-coenzyme Q reductase deficiency|isolated mitochondrial respiratory chain complex I deficiency|NADH coenzyme Q reductase deficiency MESH:C537475|Orphanet:2609|GARD:0003908|UMLS:C2936907|DOID:0060536 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/3908/mitochondrial-complex-i-deficiency owl:Class MONDO:0001598 biolink:NamedThing benign lymphoepithelial lesion of salivary gland A benign lesion that involves the salivary glands, usually the parotid gland. It affects females more often than males and it may be a manifestation of autoimmune diseases such as Sjogren syndrome. There is an increased incidence of benign lymphoepithelial lesions in HIV-positive patients. It is characterized by the presence of a marked lymphocytic infiltrate and epi-myoepithelial islands in the affected salivary gland. Patients usually present with firm and painless swelling of the affected salivary gland. There is an increased risk for development of lymphoma. tmpaxzxjjyw_mondo_relaxed.owl Godwin tumor|benign lymphoepithelial lesion of salivary gland|benign salivary gland lymphoepithelial lesion|benign lymphoepithelial lesion of the salivary gland ICD10:K11.8|SCTID:45517002|UMLS:C0266995|NCIT:C3949|DOID:12899|ICD9:527.8 owl:Class MONDO:0000586 biolink:NamedThing autoimmune disorder of exocrine system A hypersensitivity reaction type II disease that involves the exocrine system. tmpaxzxjjyw_mondo_relaxed.owl exocrine system hypersensitivity reaction type II disease|exocrine system autoimmune disease DOID:0060029 owl:Class UBERON:0014775 biolink:NamedThing prosomere tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004731 biolink:NamedThing neuromere tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4341 biolink:NamedThing GLUL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001955 biolink:NamedThing protozoal dysentery A dysentery that involves protozoan infection. tmpaxzxjjyw_mondo_relaxed.owl ICD10:B50.B64|DOID:14397|ICD9:007.8|ICD10:A07.8 owl:Class GO:0045986 biolink:NamedThing negative regulation of smooth muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of smooth muscle contraction. tmpaxzxjjyw_mondo_relaxed.owl smooth muscle relaxation|downregulation of smooth muscle contraction|down regulation of smooth muscle contraction|inhibition of smooth muscle contraction|down-regulation of smooth muscle contraction owl:Class MONDO:0024945 biolink:NamedThing hepatitis, non-human animal Inflammation of the liver in non-human animals. tmpaxzxjjyw_mondo_relaxed.owl Hepatitides, animal|animal Hepatitides|animal Hepatitis MESH:D006520 owl:Class MONDO:0009002 biolink:NamedThing coloboma, ocular, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl coloboma, ocular, autosomal recessive UMLS:C4011974|OMIM:216820|Orphanet:194 owl:Class MONDO:0002577 biolink:NamedThing extrahepatic bile duct rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation, arising from the extrahepatic bile ducts. tmpaxzxjjyw_mondo_relaxed.owl bile duct rhabdomyosarcoma|extrahepatic bile duct rhabdomyosarcoma (disease)|rhabdomyosarcoma of the extrahepatic bile duct|extrahepatic bile duct rhabdomyosarcoma|rhabdomyosarcoma (disease) of extrahepatic bile duct|rhabdomyosarcoma of extrahepatic bile duct|rhabdomyosarcoma of the bile duct|bile duct rhabdomyosarcoma (disease) NCIT:C5860|UMLS:C2064434|DOID:3254 owl:Class MONDO:0024658 biolink:NamedThing extrahepatic bile duct sarcoma A malignant soft tissue neoplasm that arises from the extrahepatic bile ducts. Representative examples include Kaposi sarcoma, leiomyosarcoma, and rhabdomyosarcoma. tmpaxzxjjyw_mondo_relaxed.owl extrahepatic bile duct sarcoma|sarcoma of the extrahepatic bile duct|sarcoma of extrahepatic bile duct UMLS:C2205442|NCIT:C5029 owl:Class MONDO:0009891 biolink:NamedThing acquired polycythemia vera Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production. tmpaxzxjjyw_mondo_relaxed.owl polycythemia rubra vera|proliferative polycythaemia|Osler-Vaquez syndrome|polycythemia vera|PRV|primary polycythemia|PV|acquired primary erythrocytosis|polycythaemia rubra vera|Osler-Vaquez disease|Vaquez disease UMLS:C0032463|MESH:D011087|ICDO:9950/3|ICD10:D45|MedDRA:10036057|NCIT:C3336|OMIM:263300|Orphanet:729|DOID:8997|ICD9:238.4|ONCOTREE:PV|EFO:0002429|GARD:0007422 owl:Class MONDO:0024551 biolink:NamedThing X-linked lymphoproliferative disease due to SH2D1A deficiency A rare, genetic, primary immunodeficiency disorder characterized by an abnormal immune response to Epstein-Barr virus (EBV) infection, caused by hemizygous mutations in the X-linked SH2D1A gene, resulting in B cell lymphoproliferation and manifesting with various phenotypes which include EBV-driven severe or fulminant mononucleosis, hemophagocytic lymphohistiocytosis (presenting with fulminant hepatitis, hepatic necrosis, bone marrow hypoplasia, and neurological involvement), hypogammaglobulinemia, and B-cell lymphoma. Additional variable manifestations include vasculitis, lymphomatoid granulomatosis, aplastic anemia, and chronic gastritis. Occasionally, T-cell lymphoma may be observed. Laboratory findings include normal or increased activated T cells and reduced memory B cells. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 5|lymphoproliferative disease, X-linked|Purtilo syndrome|Lyp|lymphoproliferative syndrome, X-linked, 1|Duncan disease|Epstein-Barr Virus infection, familial fatal|immunodeficiency, X-linked progressive combined variable|X-linked lymphoproliferative disease due to SH2D1A deficiency|Xlp|infectious mononucleosis, Severe, susceptibility to|EBV infection, Severe, susceptibility to|XLP1 Orphanet:2442|UMLS:C0549463|OMIM:308240|Orphanet:538931 owl:Class MONDO:0022941 biolink:NamedThing deafness hypospadias metacarpal and metatarsal syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001692 https://rarediseases.info.nih.gov/diseases/1692/deafness-hypospadias-metacarpal-and-metatarsal-syndrome owl:Class GO:0002894 biolink:NamedThing positive regulation of type II hypersensitivity Any process that activates or increases the frequency, rate, or extent of type II hypersensitivity. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of type II hypersensitivity|activation of type II hypersensitivity|upregulation of type II hypersensitivity|up regulation of type II hypersensitivity|stimulation of type II hypersensitivity owl:Class GO:0002891 biolink:NamedThing positive regulation of immunoglobulin mediated immune response Any process that activates or increases the frequency, rate, or extent of an immunoglobulin mediated immune response. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of immunoglobulin mediated immune response|up regulation of immunoglobulin mediated immune response|stimulation of immunoglobulin mediated immune response|upregulation of immunoglobulin mediated immune response|activation of immunoglobulin mediated immune response owl:Class MONDO:0006573 biolink:NamedThing lipodystrophy A congenital or acquired disorder characterized by abnormal loss or redistribution of the adipose tissue in the body. tmpaxzxjjyw_mondo_relaxed.owl lipodystrophy (disease)|lipodsystrophic syndromes|lipodystrophy|lipodsystrophic syndrome lipodystrophy (disease) HP:0009125|SCTID:71325002|ICD10:E88.1|EFO:1000727|DOID:811|Wikipedia:Lipodystrophy|NCIT:C97093|UMLS:C0023787|MESH:D008060|ICD9:272.6 owl:Class UBERON:0003516 biolink:NamedThing hindlimb blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:09000018 biolink:NamedThing concentration of nitrogen atom in water The concentration of a nitrogen atom when measured in water. tmpaxzxjjyw_mondo_relaxed.owl water nitrogen atom concentration owl:Class MONDO:0005963 biolink:NamedThing sparganosis A condition resulting from infection with the second stage larvae of the parasite Spirometra. tmpaxzxjjyw_mondo_relaxed.owl Spirometra infectious disease|Spirometra caused disease or disorder|sparganosis [larval diphyllobothriasis]|infection by sparganum|Spirometra disease or disorder MESH:D013031|UMLS:C0037753|ICD9:123.5|ICD10:B70.1|NCIT:C35030|DOID:10080|SCTID:31659000|EFO:0007488 owl:Class MONDO:0021063 biolink:NamedThing malignant colon neoplasm A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of colon|malignant colon neoplasm|malignant neoplasm of colon|malignant colonic neoplasm|malignant tumor of the colon|colon neoplasm, malignant|colon tumor, malignant|colon cancer|cancer of colon|malignant neoplasm of the colon|malignant colonic tumor|malignant colon tumor UMLS:C0007102|ICD10:C18|SCTID:363406005|NCIT:C9242|ICD9:153.9|DOID:219|ICD10:C18.9|ICD9:153|ICD9:153.8 owl:Class MONDO:0024182 biolink:NamedThing dry beriberi tmpaxzxjjyw_mondo_relaxed.owl endemic neuritis DOID:0070318|ICD10CM:E51.11 owl:Class GO:0060453 biolink:NamedThing regulation of gastric acid secretion Any process that modulates the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0007369 biolink:NamedThing Atrophy/Degeneration affecting the cerebrum The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4024898 peter 2008-04-01T10:28:00Z human_phenotype owl:Class HP:0002977 biolink:NamedThing Aplasia/Hypoplasia involving the central nervous system Absence or underdevelopment of tissue in the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl Aplasia/Hypoplasia involving the CNS|Absent/underdeveloped central nervous system tissue UMLS:C4025665 peter 2008-03-31T05:13:00Z HP:0001323 human_phenotype owl:Class MONDO:0007456 biolink:NamedThing diarrhea, glucose-stimulated secretory, with common variable immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl diarrhea, glucose-stimulated secretory, with common variable immunodeficiency MESH:C565099|OMIM:125890|UMLS:C1852087 owl:Class MONDO:0012558 biolink:NamedThing epiphyseal dysplasia, Baumann type tmpaxzxjjyw_mondo_relaxed.owl epiphyseal dysplasia, Baumann type MESH:C563664|OMIM:610797|UMLS:C1835830 owl:Class NCBITaxon:10293 biolink:NamedThing Alphaherpesvirinae tmpaxzxjjyw_mondo_relaxed.owl Alphaherpesviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032757 biolink:NamedThing ciliary dyskinesia, primary, 41 tmpaxzxjjyw_mondo_relaxed.owl CILIARY DYSKINESIA, PRIMARY, 41|CILD41 OMIM:618449 owl:Class MONDO:0003281 biolink:NamedThing ovarian cystic teratoma A teratoma that arises from the ovary and is characterized by the presence of cystic structures. Representative example is the dermoid cyst. tmpaxzxjjyw_mondo_relaxed.owl ovary cystic teratoma UMLS:C1335155|DOID:5118|NCIT:C7283 owl:Class MONDO:0002379 biolink:NamedThing cystic teratoma tmpaxzxjjyw_mondo_relaxed.owl cystic teratoma UMLS:C1368903|NCIT:C9014|DOID:2660 owl:Class MONDO:0018735 biolink:NamedThing multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome Human MALT1 wild-type allele is located in the vicinity of 18q21 and is approximately 79 kb in length. This allele, which encodes mucosa associated lymphoid tissue lymphoma translocation gene 1 protein, plays a role in the modulation of the nuclear factor kappa B complex signaling cascade. The gene is involved in a chromosomal translocation t(11;18)(q21;q21) with the BIRC2 gene in mucosa-associated lymphoid tissue lymphomas. tmpaxzxjjyw_mondo_relaxed.owl MALT1 wt allele|multifocal lymphangioendotheliomatosis with thrombocytopenia|mucosa associated lymphoid tissue lymphoma translocation Gene 1 wt allele|cutaneovisceral angiomatosis-thrombocytopenia syndrome|MLT|MLT1|DKFZp434L132 ICD10:D18.1|Orphanet:464321|NCIT:C60672|GARD:0010467|UMLS:CN242151 owl:Class MONDO:0020524 biolink:NamedThing primary parathyroid hyperplasia tmpaxzxjjyw_mondo_relaxed.owl hereditary parathyroids hyperplasia|familial parathyroids hyperplasia OMIM:600166|ICD10:E21.0|Orphanet:99878 owl:Class HP:0008905 biolink:NamedThing Rhizomelia Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). tmpaxzxjjyw_mondo_relaxed.owl Rhizomelic limb shortening|Disproportionately short upper portion of limb|Rhizomelic short limbs|Symmetrical rhizomelic limb shortening|Rhizomelic dwarfism|Short stature, rhizomelic|Rhizomelic shortening|Rhizomelic short stature UMLS:C1866730 HP:0003520|HP:0002968|HP:0008877|HP:0008852 human_phenotype owl:Class MONDO:0000819 biolink:NamedThing anencephaly A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus. tmpaxzxjjyw_mondo_relaxed.owl anencephalus ICD10:00.0|NCIT:C84560|DOID:0060668|OMIMPS:206500|Orphanet:1048|OMIM:206500 owl:Class CHEBI:27363 biolink:NamedThing zinc atom tmpaxzxjjyw_mondo_relaxed.owl zincum|zinc|Zn(II)|Zn2+|cinc|30Zn|Zn|Zink owl:Class MONDO:0015696 biolink:NamedThing Good syndrome Good syndrome, also known as thymoma-immunodeficiency, is a very rare acquired immunodeficiency syndrome characterized by the association of thymoma and combined B-cell and T-cell immunodeficiency of adult onset with increased susceptibility to infections. tmpaxzxjjyw_mondo_relaxed.owl thymoma-immunodeficiency syndrome|thymoma with hypogammaglobulinemia|thymoma-immunodeficiency|immunodeficiency with thymoma SCTID:9893005|UMLS:C0221027|GARD:0008622|DOID:0060028|Orphanet:169105 owl:Class MONDO:0018979 biolink:NamedThing multifocal motor neuropathy Multifocal motor neuropathy (MMN) is a rare acquired immune-mediatedneuropathy characterized clinically by a purely motor deficit with conduction block and asymmetric multifocal weakness, fasciculations, and cramping. tmpaxzxjjyw_mondo_relaxed.owl MMN|MMNCB|multifocal motor neuropathy with conduction block ICD10:G61.82|ICD9:357.89|UMLS:C0393847|ICD10:G61.8|SCTID:230591002|GARD:0011011|Orphanet:641 https://rarediseases.info.nih.gov/diseases/11011/multifocal-motor-neuropathy owl:Class HP:0003468 biolink:NamedThing Abnormal vertebral morphology An abnormality of one or more of the vertebrae. tmpaxzxjjyw_mondo_relaxed.owl Multiple vertebral anomalies|Abnormal vertebral bodies|Abnormal vertebrae|Abnormality of the vertebrae|Vertebral anomalies Fyler:4108|UMLS:C0158775|UMLS:C4020839|UMLS:C4020840|SNOMEDCT_US:74877002|SNOMEDCT_US:205043005 A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone). HP:0005719 human_phenotype owl:Class MONDO:0008812 biolink:NamedThing AREDYLD syndrome AREDYLD stands for acral-renal-ectodermal-dysplasia-lipoatrophic-diabetes. This syndrome has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl acrorenal defect-ectodermal dysplasia-diabetes syndrome|acrorenal Field defect, ectodermal dysplasia, and lipoatrophic diabetes|acral renal ectodermal dysplasia lipoatrophic diabetes|AREDYLD MESH:C537427|ICD10:Q87.8|GARD:0008509|ICD9:753.3|Orphanet:1133|SCTID:237610008|OMIM:207780|UMLS:C0342280 owl:Class MONDO:0700034 biolink:NamedThing mosaic trisomy 13 Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism. tmpaxzxjjyw_mondo_relaxed.owl trisomy 13 mosaicism http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0013761 biolink:NamedThing childhood encephalopathy due to thiamine pyrophosphokinase deficiency tmpaxzxjjyw_mondo_relaxed.owl encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency|THMD5|childhood encephalopathy due to thiamine pyrophosphokinase deficiency|thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) Orphanet:293955|UMLS:C3280866|OMIM:614458 owl:Class HGNC:7477 biolink:NamedThing MT-TC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003286 biolink:NamedThing extrahepatic bile duct leiomyoma A benign smooth muscle neoplasm arising from an extrahepatic bile duct. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl extrahepatic bile duct leiomyoma|leiomyoma of the extrahepatic bile duct|leiomyoma of extrahepatic bile duct DOID:5125|NCIT:C5855|UMLS:C1333507 owl:Class HGNC:7499 biolink:NamedThing MT-TT tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:29987 biolink:NamedThing glutamate(2-) A dicarboxylic acid dianion that is the conjugate base of glutamate(1-). tmpaxzxjjyw_mondo_relaxed.owl glutamate|glutamic acid dianion|glutamate(2-)|2-aminopentanedioate owl:Class CHEBI:28965 biolink:NamedThing dicarboxylic acid dianion A carboxylic acid dianion obtained by deprotonation of both carboxy groups of any dicarboxylic acid. tmpaxzxjjyw_mondo_relaxed.owl dicarboxylic acid dianions|dicarboxylate|dicarboxylic acid dianion|a dicarboxylate|dicarboxylates owl:Class GO:0033673 biolink:NamedThing negative regulation of kinase activity Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of kinase activity|kinase inhibitor|downregulation of kinase activity|down regulation of kinase activity|inhibition of kinase activity owl:Class MONDO:0011235 biolink:NamedThing pelvic dysplasia-arthrogryposis of lower limbs syndrome tmpaxzxjjyw_mondo_relaxed.owl Ray-Peterson-Scott syndrome|pelvic hypoplasia with LOWER-limb arthrogryposis|pelvic hypoplasia with lower limb arthrogryposis|pelvic hypoplasia with arthrogryposis of lower limbs|pelvic dysplasia arthrogryposis of lower limbs GARD:0004269|UMLS:C1865294|Orphanet:2840|OMIM:602484 owl:Class MONDO:0003801 biolink:NamedThing corneal intraepithelial neoplasm A squamous cell intraepithelial neoplasia that involves the cornea. tmpaxzxjjyw_mondo_relaxed.owl cornea intraepithelial neoplasia|corneal intraepithelial neoplasia|cornea squamous cell intraepithelial neoplasia|intraepithelial neoplasia of cornea|intraepithelial neoplasia of the cornea SCTID:420835009|UMLS:C1333159|NCIT:C6093|DOID:6198 owl:Class MONDO:0024475 biolink:NamedThing squamous cell intraepithelial neoplasia tmpaxzxjjyw_mondo_relaxed.owl sil|squamous cell intraepithelial neoplasia|SIN|squamous intraepithelial lesion NCIT:C8334 owl:Class MONDO:0020780 biolink:NamedThing cone-rod dystrophy and hearing loss 2 tmpaxzxjjyw_mondo_relaxed.owl CONE-ROD DYSTROPHY AND HEARING LOSS 2|CRDHL2 OMIM:618358 owl:Class MONDO:0014980 biolink:NamedThing cone-rod dystrophy and hearing loss tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy and hearing loss|CRDHL|cone-rod dystrophy and hearing loss; CRDHL UMLS:C4310657|EFO:0009151|OMIMPS:617236 owl:Class HGNC:565 biolink:NamedThing AP2S1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012117 biolink:NamedThing ALG9-CDG A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23). tmpaxzxjjyw_mondo_relaxed.owl congenital disorder of glycosylation type 1L|carbohydrate deficient glycoprotein syndrome type IL|CDG1L|CDG syndrome type IL|carbohydrate deficient glycoprotein syndrome type 1L|congenital disorder of glycosylation, type IL|CDG-IL|CDG IL|CDG 1L|ALG9-CDG (CDG-IL)|mannosyltransferase 7-9 deficiency|congenital disorder of glycosylation type IL UMLS:C2931006|OMIM:608776|OMIM:263210|DOID:0080564|ICD10:E77.8|Orphanet:79328|MESH:C535750|SCTID:720978005|GARD:0009839 owl:Class GO:1900542 biolink:NamedThing regulation of purine nucleotide metabolic process Any process that modulates the frequency, rate or extent of purine nucleotide metabolic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of purine metabolism|regulation of purine nucleotide metabolism|regulation of purine metabolic process owl:Class MONDO:0018498 biolink:NamedThing double outlet right ventricle with subaortic or doubly committed ventricular septal defect tmpaxzxjjyw_mondo_relaxed.owl DORV with subaortic or doubly committed VSD ICD10:Q20.1|Orphanet:423693 owl:Class MONDO:0011705 biolink:NamedThing lymphangioleiomyomatosis A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites. tmpaxzxjjyw_mondo_relaxed.owl lymphangioleiomyomatosis|lung lymphangioleiomyomatosis|pulmonary lymphangioleiomyomatosis|lymphangio-myomatosis|LAM|lymphangiomyomatosis OMIM:606690|ICD10:J84.81|NCIT:C3725|ICDO:9174/1|NCIT:C38153 https://github.com/monarch-initiative/mondo/issues/4016|https://rarediseases.info.nih.gov/diseases/3319/lymphangioleiomyomatosis owl:Class MONDO:0007098 biolink:NamedThing ACys amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages. tmpaxzxjjyw_mondo_relaxed.owl amyloidosis 6|hereditary cystatin C amyloid angiopathy|amyloidosis, Cerebroarterial, Icelandic type|hereditary cerebral hemorrhage with amyloidosis|cystatin amyloidosis|HCHWA, Icelandic type|cerebral amyloid angiopathy, CST3-related|cerebral hemorrhage, hereditary, with amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Icelandic type|amyloidosis VI|CST3-related cerebral amyloid angiopathy|CST3-related amyloidosis SCTID:703220002|ICD10:E85.4+|OMIM:105150|ICD10:I68.0*|DOID:0070027|Orphanet:85458|ICD9:437.8|Orphanet:100008|ICD9:277.39 owl:Class UBERON:0007590 biolink:NamedThing cuboidal oviduct epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:29989 biolink:NamedThing D-glutamate(2-) tmpaxzxjjyw_mondo_relaxed.owl D-glutamate(2-)|D-glutamic acid dianion|D-glutamate|(2R)-2-aminopentanedioate owl:Class MONDO:0011327 biolink:NamedThing neuronal intranuclear inclusion disease Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss. tmpaxzxjjyw_mondo_relaxed.owl neuronal intranuclear hyaline inclusion disease|neuronal intranuclear inclusion disease|Niid NCIT:C122655|OMIM:603472|SCTID:715437003|MESH:C537395|ICD10:G31.0|GARD:0003971|Orphanet:2289|UMLS:C1863843 https://rarediseases.info.nih.gov/diseases/3971/neuronal-intranuclear-inclusion-disease owl:Class MAXO:0000014 biolink:NamedThing radiation therapy Treatment of a disease by means of exposure of the target or the whole body to radiation. Radiation therapy is often used as part of curative therapy and occasionally as a component of palliative treatment for cancer. Other uses include total body irradiation prior to transplantation. tmpaxzxjjyw_mondo_relaxed.owl radiotherapy|radiation therapy procedure|radiotherapeutics|radiation|RT owl:Class MONDO:0016686 biolink:NamedThing diffuse astrocytoma A low-grade (WHO grade II) astrocytic neoplasm. It is characterized by diffuse infiltration of neighboring central nervous system structures. These lesions typically affect young adults and have a tendency for progression to anaplastic astrocytoma and glioblastoma. Based on the IDH genes mutation status, diffuse astrocytomas are classified as IDH-mutant, IDH-wildtype, and not otherwise specified. tmpaxzxjjyw_mondo_relaxed.owl gemistocytic astrocytoma (histologic variant)|grade II astrocytic neoplasm|astrocytoma, diffuse, malignant|low-grade diffuse astrocytoma|grade II astrocytic tumor|astrocytoma, diffuse|protoplasmic astrocytoma (histologic variant)|WHO grade II astrocytoma|diffuse astrocytoma|grade II astrocytoma|fibrillary astrocytoma (histologic variant) ICD10:C71.9|NCIT:C7173|Orphanet:251595|ONCOTREE:DASTR|GARD:0005907|UMLS:C0280785 owl:Class MONDO:0100125 biolink:NamedThing hallucinogen-persisting perception disorder A perceptual disorder caused by intoxication with hallucinogen drugs, especially LSD. It is characterized by the recurrence of perceptive disturbances that first develop during intoxication. The contents of the perception and visual imagery range extensively and symptoms may include visual disturbances, hallucinations, and psychoses. tmpaxzxjjyw_mondo_relaxed.owl hallucinogen abuse with hallucinogen persisting perception disorder ICD10:F16.183 owl:Class MONDO:0005656 biolink:NamedThing Ascaridida infectious disease Infections with nematodes of the order ascaridida. tmpaxzxjjyw_mondo_relaxed.owl Ascaridida infection|infection, Ascaridida|infections, Ascaridida|Ascaridida disease or disorder|Ascaridida caused disease or disorder EFO:0007156|MESH:D017191 owl:Class MONDO:0006248 biolink:NamedThing hydatidiform mole A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes. tmpaxzxjjyw_mondo_relaxed.owl hydatid Mole|molar pregnancy|hydatidiform mole, recurrent|HYDM|hydatidiform mole ICD9:631|OMIMPS:231090|ICD10:O01.9|GARD:0010263|UMLS:C0020217|OMIM:614293|ICD10:O01.1|NCIT:C3110|MedDRA:10020481|OMIM:231090|MESH:D006828|ICDO:9100/0|Orphanet:99927|ONCOTREE:MP|ICD10:O01.0|EFO:1000298|SCTID:44782008 owl:Class MONDO:0016784 biolink:NamedThing gestational trophoblastic disease tmpaxzxjjyw_mondo_relaxed.owl ICD9:631|UMLS:C1135868|ONCOTREE:GTD|SCTID:416402001|Orphanet:254685 Grouping for hydatidiform mole and gestational trophoblastic neoplasm owl:Class MONDO:0020196 biolink:NamedThing anomaly of the secretory and excretory apparatus of the lacrimal system tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98608 owl:Class MONDO:0009927 biolink:NamedThing 3MC syndrome 2 Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene. tmpaxzxjjyw_mondo_relaxed.owl 3Mc syndrome type 2|ptosis of eyelids with diastasis recti and hip dysplasia|Carnevale syndrome, formerly|Carnevale syndrome|3MC syndrome caused by mutation in COLEC11|COLEC11 3MC syndrome|3MC syndrome type 2|3MC2|oculo-skeletal-abdominal syndrome|Osa syndrome|3MC syndrome 2 DOID:0060576|Orphanet:2998|MESH:C535586|EFO:1001977|OMIM:265050|Orphanet:293843 owl:Class MONDO:0017398 biolink:NamedThing 3MC syndrome 3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect), caudal appendage, umbilical hernia/omphalocele and diastasis recti. tmpaxzxjjyw_mondo_relaxed.owl craniofacial-ulnar-renal syndrome|oculopalatoskeletal syndrome|Malpuech-Michels-Mingarelli-Carnevale syndrome DOID:0060225|OMIMPS:257920|UMLS:CN230015|OMIM:257920|ICD10:Q87.8|OMIM:248340|SCTID:720756005|OMIM:265050|Orphanet:293843|GARD:0001118 https://rarediseases.info.nih.gov/diseases/1118/3mc-syndrome owl:Class UBERON:0008801 biolink:NamedThing parotid gland primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012836 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 12 tmpaxzxjjyw_mondo_relaxed.owl SLEB12|systemic lupus erythematosus, susceptibility to, 12 OMIM:612254 owl:Class MONDO:0016113 biolink:NamedThing bulbospinal muscular atrophy tmpaxzxjjyw_mondo_relaxed.owl bulbospinal muscular atrophy|spinal-bulbar muscular atrophy|spinal and bulbal muscular atrophy|SBMA SCTID:230253001|Orphanet:206701|ICD10:G12.2 owl:Class GO:0110111 biolink:NamedThing negative regulation of animal organ morphogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of animal organ morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6033 biolink:NamedThing Encephalitozoon tmpaxzxjjyw_mondo_relaxed.owl Septata GC_ID:1 NCBITaxon:27985 ncbi_taxonomy owl:Class MONDO:0017335 biolink:NamedThing microtriplication 11q24.1 Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia. tmpaxzxjjyw_mondo_relaxed.owl tetrasomy 11q24.1 ICD10:Q99.8|Orphanet:289522 owl:Class GO:1903047 biolink:NamedThing mitotic cell cycle process A process that is part of the mitotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025489 biolink:NamedThing enzootic bovine leukosis A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding. tmpaxzxjjyw_mondo_relaxed.owl bovine lymphosarcoma|bovine leukemias|bovine leukosis|enzootic bovine Leukoses|bovine lymphoma|lymphosarcomas, bovine|leukoses, bovine|bovine Lymphosarcomas|leukosis, enzootic bovine|lymphoma, bovine|leukosis, bovine|leukoses, enzootic bovine|bovine leukosis, enzootic|leukemia, bovine|lymphosarcoma, bovine|bovine leukemia|leukemias, bovine|bovine Leukoses, enzootic|lymphomas, bovine|bovine Leukoses|bovine Lymphomas MESH:D016583|EFO:1001315 owl:Class MONDO:0015715 biolink:NamedThing severe hemophilia B Severe hemophilia B is a form of hemophilia B characterized by a large deficiency of factor IX leading to frequent spontaneous hemorrhage and abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpaxzxjjyw_mondo_relaxed.owl severe factor IX deficiency|severe hemophilia type B ICD10:D67|Orphanet:169793|UMLS:CN200227 owl:Class MONDO:0010604 biolink:NamedThing hemophilia B Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency. tmpaxzxjjyw_mondo_relaxed.owl congenital factor IX disorder|Christmas disease|factor IX deficiency|deficiency, functional factor IX|factor 9 deficiency|hemophilia B Leyden|HEMB|hereditary Factor IX deficiency|hemophilia B|plasma thromboplastin component deficiency|hemophilia type B|F9 deficiency|hereditary Factor IX deficiency disease|hem B|congenital factor IX deficiency|hemophilia B(M) ICD9:286.1|Orphanet:98879|OMIM:306900|GARD:0008732|UMLS:C0008533|MedDRA:10016077|ICD10:D67|SCTID:41788008|EFO:0009154|NCIT:C26721|DOID:12259|MESH:D002836 https://rarediseases.info.nih.gov/diseases/8732/hemophilia-b owl:Class MONDO:0012289 biolink:NamedThing myofibrillar myopathy 5 Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases. tmpaxzxjjyw_mondo_relaxed.owl myofibrillar myopathy type 5|FLNC myofibrillar myopathy (disease)|MFM5|myopathy, myofibrillar, type 5|muscle filaminopathy|myopathy, myofibrillar, filamin C-related|myofibrillar myopathy 5|filaminopathy, autosomal dominant|myopathy, myofibrillar, 5|myofibrillar myopathy (disease) caused by mutation in FLNC|filaminopathy DOID:0080096|Orphanet:171445|ICD10:G71.8|OMIM:609524|MESH:C537932 owl:Class MONDO:0016189 biolink:NamedThing qualitative or quantitative defects of filamin C tmpaxzxjjyw_mondo_relaxed.owl qualitative or quantitative defects of filamin type C Orphanet:209047 owl:Class MONDO:0020675 biolink:NamedThing ischemic bowel disorder Disease of the large or small intestine that is caused by inadequate blood supply. tmpaxzxjjyw_mondo_relaxed.owl ischemic bowel disease NCIT:C35212 owl:Class MONDO:0003390 biolink:NamedThing glycogen-rich clear cell breast carcinoma An uncommon, usually aggressive adenocarcinoma of the breast characterized by the presence of clear cells that contain glycogen. tmpaxzxjjyw_mondo_relaxed.owl Glycogen-rich, clear cell breast carcinoma|glycogen-rich carcinoma (morphologic abnormality)|glycogen-rich carcinoma NCIT:C40368|ICDO:8315/3|DOID:5310|UMLS:C1512224 https://github.com/monarch-initiative/mondo/issues/3710 owl:Class MONDO:0009862 biolink:NamedThing dihydropteridine reductase deficiency Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties. tmpaxzxjjyw_mondo_relaxed.owl hyperphenylalaninemia, BH-4-deficient, C|hyperphenylalaninemia, Bh4-deficient, type C|quinoid dihydropteridine reductase deficiency|6,7-dihydropteridine reductase activity disease|DHPR deficiency|hyperphenylalaninemia due to dihydropteridine reductase deficiency|Qdpr deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency|hyperphenylalaninemia, BH4-deficient, C|disorder of 6,7-dihydropteridine reductase activity|hyperphenylalaninemia, BH4-deficient C|PKU type 2|HPABH4C|phenylketonuria type 2|dihydropteridine reductase deficiency Orphanet:238583|GARD:0004319|OMIM:261630|ICD10:E70.1|SCTID:58256000|NCIT:C138173|Orphanet:226 https://rarediseases.info.nih.gov/diseases/4319/dihydropteridine-reductase-deficiency owl:Class HP:0001944 biolink:NamedThing Dehydration tmpaxzxjjyw_mondo_relaxed.owl Dehydration|Exsiccosis UMLS:C0011175|SNOMEDCT_US:34095006|MSH:D003681 human_phenotype owl:Class HGNC:9173 biolink:NamedThing POLA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005191 biolink:NamedThing metastatic melanoma A melanoma that has spread from its primary site to another anatomic site. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. tmpaxzxjjyw_mondo_relaxed.owl metastatic melanoma|metastatic malignant melanoma EFO:0002617|SCTID:443493003|UMLS:C0278883|NCIT:C8925 owl:Class MONDO:0018264 biolink:NamedThing oculocutaneous albinism type 6 A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. tmpaxzxjjyw_mondo_relaxed.owl albinism, oculocutaneous, type VI|skin/hair/eye pigmentation, variation In, 4|skin/hair/eye pigmentation 4, fair/dark skin|OCA6 OMIM:113750|ICD10:E70.3|Orphanet:370097|DOID:0080614|SCTID:722058005|UMLS:C3805375 owl:Class CL:0000244 biolink:NamedThing transitional epithelial cell A cell characteristically found lining hollow organs that are subject to great mechanical change due to contraction and distention; originally thought to represent a transition between stratified squamous and columnar epithelium. tmpaxzxjjyw_mondo_relaxed.owl FMA:66778 cell owl:Class GO:1904538 biolink:NamedThing regulation of glycolytic process through fructose-6-phosphate Any process that modulates the frequency, rate or extent of glycolytic process through fructose-6-phosphate. tmpaxzxjjyw_mondo_relaxed.owl regulation of glycolysis through fructose-6-phosphate owl:Class MONDO:0100274 biolink:NamedThing alkylglycerone-phosphate synthase deficiency Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene. tmpaxzxjjyw_mondo_relaxed.owl AGPS deficiency|alkylglycerone-phosphate synthase deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class GO:2000470 biolink:NamedThing positive regulation of peroxidase activity Any process that activates or increases the frequency, rate or extent of peroxidase activity. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of donor:hydrogen-peroxide oxidoreductase activity|positive regulation of peroxidase reaction|positive regulation of oxyperoxidase activity owl:Class MONDO:0010691 biolink:NamedThing Norrie disease Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. tmpaxzxjjyw_mondo_relaxed.owl NDP|Episkopi blindness|Norrie disease|Norrie-Warburg syndrome|pseudoglioma|nd|Norrie-Warburg disease|atrophia bulborum hereditaria|Norrie syndrome|fetal iritis syndrome|ND|Anderson-Warburg syndrome Orphanet:649|MESH:C537849|NCIT:C118634|OMIM:310600|DOID:0060844|SCTID:15228007|MedDRA:10069760|ICD9:743.8|ICD10:H35.5|GARD:0007224 https://rarediseases.info.nih.gov/diseases/7224/norrie-disease owl:Class MONDO:0007421 biolink:NamedThing deafness-ear malformation-facial palsy syndrome Deafness-ear malformation-facial palsy syndrome is characterized by profound conductive deafness due to stapedial abnormalities associated with variable malformations of the external ears and facial paralysis. It has been described in three sibs and their mother. Inheritance is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl Sellars-Beighton syndrome|deafness, conductive stapedial, with EAR malformation and facial palsy SCTID:716243005|MESH:C565123|OMIM:124490|ICD10:Q87.0|Orphanet:3232 owl:Class MONDO:0021324 biolink:NamedThing malignant neoplasm of abdominal esophagus A cancer that involves the abdominal part of esophagus. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of abdominal part of esophagus|malignant abdominal part of esophagus neoplasm|cancer of abdominal part of esophagus|malignant neoplasm of the abdominal esophagus|malignant tumor of the abdominal esophagus|abdominal part of esophagus cancer NCIT:C4764|ICD9:150.2|UMLS:C0496775|SCTID:187724003 owl:Class MONDO:0016353 biolink:NamedThing palmoplantar keratoderma-spastic paralysis syndrome tmpaxzxjjyw_mondo_relaxed.owl palmoplantar hyperkeratosis-spastic paralysis syndrome|Powell-Venencie-Gordon syndrome|keratoderma palmoplantar spastic paralysis OMIM:148360|MESH:C536153|Orphanet:2201|MESH:C538358|GARD:0003095 owl:Class MONDO:0007853 biolink:NamedThing palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome tmpaxzxjjyw_mondo_relaxed.owl axonal neuropathy with palmoplantar keratoderma|Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy|keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy OMIM:148360|MESH:C536153|Orphanet:2201|Orphanet:538574 owl:Class MONDO:0044304 biolink:NamedThing hyperphenylalaninemia due to DNAJC12 deficiency Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}). tmpaxzxjjyw_mondo_relaxed.owl hyperphenylalaninemia, mild, non-BH4-deficient|HPANBH4|hyperphenylalaninemia due to DNAJC12 deficiency OMIM:617384|Orphanet:508523|UMLS:C4479270 owl:Class NCBITaxon:693996 biolink:NamedThing Alphacoronavirus tmpaxzxjjyw_mondo_relaxed.owl Coronavirus|Coronavirus group 1|Group 1 species GC_ID:1 NCBITaxon:156438|NCBITaxon:446038 ncbi_taxonomy owl:Class MONDO:0015821 biolink:NamedThing mycosis fungoides and variants Mycosis fungoides (MF) and its variants represent the most common forms of cutaneous T-cell lymphomas. The term MF is restricted to the classical form characterized by the slow progression of patches, plaques and tumors, and to variants with a similar indolent course. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226743|ICD10:C84.0|Orphanet:178566 owl:Class HGNC:27960 biolink:NamedThing SLC6A19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006776 biolink:NamedThing vitamin A metabolic process The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene. tmpaxzxjjyw_mondo_relaxed.owl vitamin A metabolism owl:Class GO:0006775 biolink:NamedThing fat-soluble vitamin metabolic process The chemical reactions and pathways involving of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. tmpaxzxjjyw_mondo_relaxed.owl fat-soluble vitamin metabolism owl:Class MONDO:0011018 biolink:NamedThing brachyolmia-amelogenesis imperfecta syndrome An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition. tmpaxzxjjyw_mondo_relaxed.owl dental anomalies and short stature|skeletal dysplasia with amelogenesis imperfecta and platyspondyly|platyspondyly-amelogenesis imperfecta syndrome|STHAG6|selective tooth agenesis 5|tooth agenesis, selective, 6|Verloes-Bourguignon syndrome|Verloes Bourguignon syndrome|amelogenesis imperfecta and platyspondyly|platyspondyly with amelogenesis imperfecta|tooth agenesis, selective, 6, formerly|DASS GARD:0005478|OMIM:601216|SCTID:716195006|Orphanet:2899|ICD10:Q76.3|DOID:0090143|GARD:5478 owl:Class GO:0030202 biolink:NamedThing heparin metabolic process The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. tmpaxzxjjyw_mondo_relaxed.owl heparin metabolism|heparan sulfate metabolic process owl:Class GO:0006790 biolink:NamedThing sulfur compound metabolic process The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. tmpaxzxjjyw_mondo_relaxed.owl sulphur metabolism|sulfur metabolism|sulphur metabolic process owl:Class HGNC:7762 biolink:NamedThing NEUROD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100368 biolink:NamedThing RPE65-related recessive retinopathy A retinopathy, which may include conditions described as retinitis pigmentosa and Leber congenital amaurosis, caused by biallelic variants in the RPE65 gene. tmpaxzxjjyw_mondo_relaxed.owl Leber congenital amaurosis 2|retinitis pigmentosa caused by mutation in RPE65|Leber congenital amaurosis type 2|RPE65 Leber congenital amaurosis|retinitis pigmentosa 20|amaurosis congenita of Leber II|amaurosis congenita of Leber 2|amaurosis congenita of Leber, type 2|RP20|RPE65 retinitis pigmentosa|LCA2|Leber congenital amaurosis caused by mutation in RPE65|recessive RPE65 retinopathy https://github.com/monarch-initiative/mondo/issues/3898 owl:Class MONDO:0014246 biolink:NamedThing episodic pain syndrome, familial, 2 Any familial episodic pain syndrome in which the cause of the disease is a mutation in the SCN10A gene. tmpaxzxjjyw_mondo_relaxed.owl episodic pain syndrome, familial, 2|familial episodic pain syndrome caused by mutation in SCN10A|FEPS2|SCN10A familial episodic pain syndrome|episodic pain syndrome, familial, type 2 OMIM:615551|UMLS:C3809893|Orphanet:306577|DOID:0111730 owl:Class MONDO:0017629 biolink:NamedThing sodium channelopathy-related small fiber neuropathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:306577|OMIM:133020|OMIM:615551 owl:Class MONDO:0007971 biolink:NamedThing delayed membranous cranial ossification Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development. tmpaxzxjjyw_mondo_relaxed.owl membranous cranial ossification, delayed|Gonzales-del Angel syndrome MESH:C563592|GARD:0001727|UMLS:C1835030|OMIM:155980|Orphanet:3034|SCTID:715524004|ICD10:Q75.8 https://rarediseases.info.nih.gov/diseases/1727/delayed-membranous-cranial-ossification owl:Class MONDO:0010233 biolink:NamedThing heterotopia, periventricular, X-linked dominant tmpaxzxjjyw_mondo_relaxed.owl heterotopia periventricular X-linked dominant|heterotopia, periventricular, Ehlers-Danlos variant|nodular heterotopia, bilateral periventricular|periventricular nodular heterotopia 1|nodular heterotopia bilateral periventricular|heterotopia, familial nodular|heterotopia familial nodular|X-linked periventricular heterotopia|periventricular nodular heterotopia 4|NHBP|PVNH1|BPNH|bilateral periventricular nodular heterotopia|periventricular nodular heterotopia 4, formerly|heterotopia, periventricular, X-linked dominant|heterotopia, periventricular nodular, with Frontometaphyseal dysplasia ICD9:742.4|GARD:0007371|Orphanet:98892|SCTID:448227009|OMIM:300049|Orphanet:2149 owl:Class MONDO:0010937 biolink:NamedThing isoproterenol-mediated vasodilatation tmpaxzxjjyw_mondo_relaxed.owl isoproterenol-mediated vasodilatation UMLS:C1833276|OMIM:600801 owl:Class GO:0001944 biolink:NamedThing vasculature development The process whose specific outcome is the progression of the vasculature over time, from its formation to the mature structure. The vasculature is an interconnected tubular multi-tissue structure that contains fluid that is actively transported around the organism. tmpaxzxjjyw_mondo_relaxed.owl vascular system development owl:Class GO:0048731 biolink:NamedThing system development The process whose specific outcome is the progression of an organismal system over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002404 biolink:NamedThing liver hemangioma A hemangioma arising from the liver. tmpaxzxjjyw_mondo_relaxed.owl liver angioma|hepatic angioma|angioma of the liver|hepatic hemangioma|liver hemangioma|hemangioma of liver|angioma of liver|hemangioma of the liver NCIT:C3869|UMLS:C0238246|SCTID:93469006|DOID:271 owl:Class MONDO:0006436 biolink:NamedThing submandibular gland adenoid cystic carcinoma An aggressive carcinoma that arises from the submandibular gland. It is characterized by the presence of malignant epithelial and myoepithelial cells forming cribriform, tubular, and solid patterns. It usually presents as a slow growing mass. Patients develop pain because of the tendency of these carcinomas to invade perineural tissues. tmpaxzxjjyw_mondo_relaxed.owl adenoid cystic carcinoma of the submandibular gland|submandibular gland adenoid cystic carcinoma|adenoid cystic carcinoma of submandibular gland NCIT:C5935|EFO:1000555|SCTID:423189008|UMLS:C1336522 owl:Class GO:1905038 biolink:NamedThing regulation of membrane lipid metabolic process Any process that modulates the frequency, rate or extent of membrane lipid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of membrane lipid metabolism owl:Class MONDO:0005142 biolink:NamedThing Pseudomonas aeruginosa CF5 infection A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5. tmpaxzxjjyw_mondo_relaxed.owl EFO:0001077 owl:Class GO:0033280 biolink:NamedThing response to vitamin D Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin D stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to cholecalciferol|response to calciferol|response to ergocalciferol owl:Class GO:0033993 biolink:NamedThing response to lipid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010427 biolink:NamedThing ciliary processes tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019436 biolink:NamedThing psoriasis-related juvenile idiopathic arthritis Childhood arthritis typically associated with psoriasis. tmpaxzxjjyw_mondo_relaxed.owl psoriasis-related JIA|juvenile psoriatic arthritis|JPsA GARD:0010970|Orphanet:85436|ICD10:L40.5+|SCTID:239802003|NCIT:C114361|ICD10:M09.0* owl:Class MONDO:0009984 biolink:NamedThing late-adult onset retinitis pigmentosa A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa, late-ADULT onset|senile retinitis pigmentosa|retinitis pigmentosa, 'Senile' DOID:0110421|MESH:C564840|ICD10:H35.5|UMLS:C1849400|OMIM:268025 owl:Class MONDO:0030012 biolink:NamedThing Diets-Jongmans syndrome tmpaxzxjjyw_mondo_relaxed.owl diets-jongmans syndrome|DIJOS|DIETS-JONGMANS SYNDROME|Intellectual Developmental Disorder With Distinctive Facial Dysmorphism OMIM:618846 owl:Class MONDO:0006879 biolink:NamedThing optic papillitis Swelling of the optic disk, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause optic atrophy and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175) tmpaxzxjjyw_mondo_relaxed.owl retinal Edemas|retinal edema|inflammation of optic disc|increased intracranial pressure associated papilledema|optic discitis|Choked disk|papilledema associated with decreased intraocular pressure|edema, optic disk|edema, optic papilla|disks, Choked|Edemas, optic disk|papillitis, optic|papilledema associated with increased intracranial pressure|optic disc inflammation|optic nerve papillitis|disk, Choked|Edemas, retinal|optic papilla edema|increased intracranial pressure-associated papilledema|papillitis|papillitis, optic nerve|edema, retinal|optic papillitis|optic disk edema|edema of the optic disc|Choked disks|decreased intraocular pressure associated papilledema|decreased intraocular pressure-associated papilledema NCIT:C3307|ICD10:H47.1|EFO:1001074|MESH:D010211|ICD10:H46.0|MedDRA:10030948|ICD10:H47.10|ICD10:H47.11|SCTID:6141006|ICD9:377.00|ICD9:377.0|ICD9:362.83|ICD9:377.31|SCTID:73221001|ICD10:H35.81|ICD9:377.01|DOID:10175 owl:Class MONDO:0009135 biolink:NamedThing anemia, congenital dyserythropoietic, type 1a tmpaxzxjjyw_mondo_relaxed.owl anemia, congenital dyserythropoietic, type 1|CDAN1A|anemia, congenital dyserythropoietic, type 1a|dyserythropoietic Anemia, congenital, type Ia|anemia, congenital dyserythropoietic, type Ia|CDA Ia OMIM:224120|DOID:0111398|Orphanet:98869 owl:Class MONDO:0001576 biolink:NamedThing telangiectasis Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes. tmpaxzxjjyw_mondo_relaxed.owl telangiectasia MESH:D013684|SCTID:247479008|NCIT:C28194|DOID:1272|UMLS:C0039446 owl:Class MONDO:0021658 biolink:NamedThing vascular ectasia tmpaxzxjjyw_mondo_relaxed.owl vascular ectasia NCIT:C45481|UMLS:C0002959 owl:Class MONDO:0011510 biolink:NamedThing Bohring-Opitz syndrome Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported. tmpaxzxjjyw_mondo_relaxed.owl Bohring syndrome|BOHRING-Opitz syndrome|C-like syndrome|Oberklaid-Danks syndrome|Bohring-Opitz syndrome|Bos syndrome|BOPS|Opitz trigonocephaly-like syndrome NCIT:C131533|UMLS:C0796232|OMIM:605039|ICD10:Q87.8|GARD:0010140|Orphanet:97297|SCTID:720565000|MESH:C537419 https://rarediseases.info.nih.gov/diseases/10140/bohring-opitz-syndrome owl:Class MONDO:0006166 biolink:NamedThing columnar cell hyperplasia of the breast A columnar cell lesion characterized by the presence of enlarged terminal ductal lobular units with dilated acini. The acini are lined by more than two layers of columnar epithelial cells. Prominent apical cytoplasmic snouts are present. Secretions are often present in the lumina of the dilated acini. tmpaxzxjjyw_mondo_relaxed.owl columnar cell hyperplasia of breast|CCH UMLS:C1707446|NCIT:C54183|EFO:1000199 owl:Class UBERON:0003859 biolink:NamedThing forelimb mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000945 biolink:NamedThing venous insufficiency Impaired venous blood flow or venous return (venous stasis), usually caused by inadequate venous valves. Venous insufficiency often occurs in the legs, and is associated with edema and sometimes with venous stasis ulcers at the ankle. tmpaxzxjjyw_mondo_relaxed.owl peripheral venous insufficiency|venous insufficiency (disease)|venous insufficiency venous insufficiency (disease) HP:0005293|UMLS:C0042485|MESH:D014689|ICD9:459.81|DOID:10128|SCTID:20696009 owl:Class UBERON:8410028 biolink:NamedThing arteriole of appendix tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016702 biolink:NamedThing oligoastrocytoma A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO) tmpaxzxjjyw_mondo_relaxed.owl mixed astrocytic-oligodendroglial tumor|mixed oligoastrocytoma|glioma, mixed, benign|oligoastrocytoma|mixed oligodendroglioma-astrocytoma|mixed oligo-astrocytoma|WHO grade II mixed glioma|MOA|mixed astrocytoma-oligodendroglioma|mixed astrocytic-oligodendroglial neoplasm MedDRA:10027744|MESH:D009837|GARD:0009769|ICD10:C71.9|ONCOTREE:OAST|DOID:7912|Orphanet:251656|EFO:0000630|NCIT:C4050|UMLS:C0280793|SCTID:716647001 https://rarediseases.info.nih.gov/diseases/9769/oligoastrocytoma owl:Class MONDO:0016701 biolink:NamedThing oligoastrocytic tumor tmpaxzxjjyw_mondo_relaxed.owl mixed oligodendroglial and astrocytic tumor UMLS:C0280793|Orphanet:251651|UMLS:CN201945 owl:Class MONDO:0020660 biolink:NamedThing osteoblastic osteosarcoma A conventional osteosarcoma characterized by the predominance of osteoid matrix. tmpaxzxjjyw_mondo_relaxed.owl osteoblastic osteosarcoma NCIT:C53953 owl:Class CHEBI:36054 biolink:NamedThing benzoate ester Esters of benzoic acid or substituted benzoic acids. tmpaxzxjjyw_mondo_relaxed.owl benzoic acid esters|benzoate ester|benzoate esters owl:Class CHEBI:33308 biolink:NamedThing carboxylic ester An ester of a carboxylic acid, R(1)C(=O)OR(2), where R(1) = H or organyl and R(2) = organyl. tmpaxzxjjyw_mondo_relaxed.owl carboxylic esters|Carboxylic ester|a carboxylic ester|carboxylic acid esters owl:Class MONDO:0001352 biolink:NamedThing round ligament malignant neoplasm A malignant neoplasm involving the round ligament of uterus. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of round ligament of uterus|round ligament of uterus cancer|cancer of round ligament of uterus|malignant neoplasm of round ligament|malignant round ligament of uterus neoplasm ICD10:C57.2|ICD9:183.5|SCTID:188204000|DOID:11748|UMLS:C0346867 owl:Class MONDO:0002087 biolink:NamedThing peritoneum cancer A malignant neoplasm involving the peritoneum tmpaxzxjjyw_mondo_relaxed.owl peritoneum cancer|peritoneal cavity cancer|peritoneal neoplasm|malignant peritoneum neoplasm|cancer of the peritoneum|peritoneal cancer|cancer of peritoneum|malignant neoplasm of peritoneum|malignant peritoneal neoplasm ICD9:159.8|DOID:1725|ICD9:158.9|ICD10:C48.1|ICD9:158.8|NCIT:C3538|SCTID:363492001|UMLS:C0153467 owl:Class MONDO:0100384 biolink:NamedThing acute myeloid leukemia, t(11;19)(q23;p13.1) Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13.1). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13.1) of chromosome 19. It is associated with the development of acute myeloid leukemia with variant MLL translocations and topoisomerase II inhibitor-related acute myeloid leukemia.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(11;19)(q23;p13.1) NCIT:C36371 owl:Class MONDO:0010146 biolink:NamedThing Kerion celsi A rare inflammatory and suppurating type of tinea capitis, a skin infection caused by Trichophyton or Microsporum fungi, that predominantly affects the scalp and that is characterized by the development of painful crusty lesions covered with follicular pustules and surrounded by erythematous alopecic areas, that can later evolve into abscesses and leave permanent cicatricial alopecia. Lesions can be associated with regional lymphadenopathy. tmpaxzxjjyw_mondo_relaxed.owl Tinea capitis profunda|Trichophyton infection|susceptibility to Tinea imbricata|TINEA imbricata, susceptibility to|trichophytia profunda barbae|trichophytia profunda capitis UMLS:C0276742|GARD:0003109|Orphanet:499|SCTID:19087001|OMIM:275240|ICD10:B35.0 https://rarediseases.info.nih.gov/diseases/3109/kerion-celsi owl:Class MONDO:0003237 biolink:NamedThing adenomyoma of uterine corpus A usually polypoid, benign neoplasm that arises from the uterine corpus. It is characterized by the presence of benign epithelial glands embedded in benign fibromyomatous tissue. tmpaxzxjjyw_mondo_relaxed.owl adenomyoma of the uterine corpus|adenomyoma of uterine body|body of uterus adenomyoma|corpus uteri adenomyoma|adenomyoma of the body of uterus|adenomyoma of uterine corpus|adenomyoma of the uterine body|adenomyoma of body of uterus|adenomyoma of the corpus uteri|adenomyoma of corpus uteri|uterine corpus adenomyoma|uterine body adenomyoma DOID:4994|NCIT:C6338|UMLS:C1336903 owl:Class MONDO:0012343 biolink:NamedThing aortic aneurysm, familial abdominal, 2 tmpaxzxjjyw_mondo_relaxed.owl aortic aneurysm, familial abdominal, 2|AAA2 Orphanet:86|MESH:C565229|UMLS:C1853364|OMIM:609782 owl:Class MONDO:0007031 biolink:NamedThing familial abdominal aortic aneurysm An instance of abdominal aortic aneurysm that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl aortic aneurysm, familial abdominal|hereditary abdominal aortic aneurysm OMIM:609782|UMLS:CN206207|OMIM:100070|GARD:0009181|SCTID:715364001|Orphanet:86|ICD10:I71.4|OMIMPS:100070|UMLS:C4275172|OMIM:614375|OMIM:611891 owl:Class MONDO:0003960 biolink:NamedThing pulmonary large cell neuroendocrine carcinoma A large cell neuroendocrine carcinoma that involves the lung(s). tmpaxzxjjyw_mondo_relaxed.owl large cell neuroendocrine carcinoma of the lung|lung large cell neuroendocrine carcinoma|pulmonary large cell neuroendocrine carcinoma|large cell lung carcinoma with neuroendocrine differentiation|large cell neuroendocrine carcinoma of lung|large cell lung neuroendocrine carcinoma|LCNEC of the lung NCIT:C6875|DOID:6658|NCIT:C5672|UMLS:C1334363|UMLS:C1265996 owl:Class UBERON:0009602 biolink:NamedThing left lung associated mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009913 biolink:NamedThing prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness tmpaxzxjjyw_mondo_relaxed.owl prune belly syndrome with pulmonic stenosis, mental retardation, and deafness|prune belly syndrome with pulmonic stenosis, intellectual disability, and deafness MESH:C562894|UMLS:C0403551|OMIM:264140|SCTID:236529001 owl:Class MONDO:0015158 biolink:NamedThing unexplained periodic fever syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:E85.0|Orphanet:102237|UMLS:CN197498 owl:Class NCBITaxon:5073 biolink:NamedThing Penicillium tmpaxzxjjyw_mondo_relaxed.owl Eupenicillium GC_ID:1 NCBITaxon:28577 ncbi_taxonomy owl:Class NCBITaxon:1131492 biolink:NamedThing Aspergillaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013182 biolink:NamedThing chromosome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features. tmpaxzxjjyw_mondo_relaxed.owl trisomy 17p13.3|chromosome 17p13.3, centromeric, DUPLICATION syndrome|chromosome 17p13.3 centromeric duplication syndrome|dup(17)(p13.3)|17p13.3 microduplication syndrome|17p13.3 duplication syndrome DOID:0060432|UMLS:C2750748|Orphanet:217385|OMIM:613215|SCTID:719582007|MESH:C567705|ICD10:Q92.3|UMLS:C4304641 owl:Class MONDO:0007156 biolink:NamedThing arthritis, sacroiliac tmpaxzxjjyw_mondo_relaxed.owl arthritis, sacroiliac MESH:C563037|OMIM:108100|UMLS:C0748473 owl:Class MONDO:0006639 biolink:NamedThing adrenal cortex carcinoma A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. tmpaxzxjjyw_mondo_relaxed.owl adrenal cortical carcinoma|adrenal cortical adenocarcinoma|adrenal cortical carcinoma (morphologic abnormality)|adrenocortical cancer|carcinoma of adrenal cortex|adrenal cortical tumors|carcinoma, adrenocortical, malignant|adrenal cortex carcinoma|adrenocortical carcinoma (disease)|malignant neoplasm of adrenal cortex|adrenal cortex adenocarcinoma|cortical cell carcinoma|malignant adrenocortical tumor|malignant tumour of adrenal cortex|cancer of the adrenal cortex|carcinoma of the adrenal cortex|adrenal cortex cancer|ACC|adenocarcinoma, adrenocortical, malignant|adrenocortical carcinoma EFO:1000796|MedDRA:10001388|HP:0006744|Orphanet:1501|ONCOTREE:ACC|GARD:0000558|SCTID:255035007|DOID:660|ICDO:8370/3|OMIM:202300|DOID:3959|ICD10:C74.0|NCIT:C9325|SCTID:371964008|UMLS:C0206686|NCIT:C9327|DOID:3948 owl:Class UBERON:0006648 biolink:NamedThing adventitia of seminal vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100326 biolink:NamedThing Glanzmann thrombasthenia tmpaxzxjjyw_mondo_relaxed.owl Glanzmann thrombasthenia OMIMPS:273800 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0024318 biolink:NamedThing viral infection of central nervous system tmpaxzxjjyw_mondo_relaxed.owl viral infection of central nervous system|central nervous system viral infection|viral disease of central nervous system MESH:D020805|UMLS:C0348165|ICD10:A80.A89|SCTID:302810003 owl:Class HGNC:10057 biolink:NamedThing RNF13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013792 biolink:NamedThing intracerebral hemorrhage Bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. tmpaxzxjjyw_mondo_relaxed.owl hemorrhage, intracerebral, susceptibility to|stroke, hemorrhagic, susceptibility to|ich OMIM:614519|ICD9:431|EFO:0005669|SCTID:274100004|MESH:D002543 Editor note: consider separate subclass for OMIM ID owl:Class MONDO:0005049 biolink:NamedThing intracranial hemorrhage Bleeding within the cranium. tmpaxzxjjyw_mondo_relaxed.owl EFO:0000551|ICD9:432.9|NCIT:C50438|UMLS:CN236663|MESH:D020300 Editor note: consider obsoleting https://github.com/EBISPOT/OLS/issues/207 owl:Class NCBITaxon:229219 biolink:NamedThing Blastomyces tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:299071 biolink:NamedThing Ajellomycetaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0001384 biolink:NamedThing Abnormal hip joint morphology An abnormality of the hip joint. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the hip joint|Abnormality of the hip joints UMLS:C4020870 human_phenotype owl:Class HP:0003272 biolink:NamedThing Abnormal hip bone morphology An abnormality of the hip bone. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the hips|Abnormality of the hip bone UMLS:C4021735 The hip region comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle. human_phenotype owl:Class GO:0045650 biolink:NamedThing negative regulation of macrophage differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage differentiation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of macrophage differentiation|down-regulation of macrophage differentiation|downregulation of macrophage differentiation|inhibition of macrophage differentiation owl:Class GO:0045649 biolink:NamedThing regulation of macrophage differentiation Any process that modulates the frequency, rate or extent of macrophage differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013973 biolink:NamedThing ectodermal dysplasia 5, hair/nail type tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia 5, hair/nail type|ECTD5 DOID:0111657|OMIM:614927|UMLS:C3554108 owl:Class MONDO:0008392 biolink:NamedThing Roussy-Levy syndrome tmpaxzxjjyw_mondo_relaxed.owl hereditary areflexic dystasia, Roussy-levy type|hereditary motor sensory neuropathy I|Roussy-Lévy syndrome|Roussy-levy disease|HMSN I|Charcot-Marie-Tooth disease (variant)|hereditary areflexic dystasia, Roussy-Lévy type|Charcot-Marie-Tooth-Roussy-levy disease|Roussy-levy hereditary areflexic dystasia|Roussy levy syndrome|Roussy-levy syndrome|Roussy levy hereditary areflexic dystasia|hereditary areflexic dystasia ICD10:G60.0|SCTID:45853006|Orphanet:3115|GARD:0004741|OMIM:180800|ICD9:334.3 owl:Class NCBITaxon:8028 biolink:NamedThing Salmo tmpaxzxjjyw_mondo_relaxed.owl Salmothymus|Acantholingua GC_ID:1 NCBITaxon:82302|NCBITaxon:62064 ncbi_taxonomy owl:Class MONDO:0006552 biolink:NamedThing folliculitis Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds. tmpaxzxjjyw_mondo_relaxed.owl dermatitis of hair follicle|hair follicle dermatitis DOID:4409|EFO:1000702|NCIT:C94408|SCTID:13600006|MESH:D005499|ICD9:704.8|Wikipedia:Folliculitis owl:Class MONDO:0007113 biolink:NamedThing Angelman syndrome Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features. tmpaxzxjjyw_mondo_relaxed.owl Angelman syndrome chromosome region|Angelman syndrome|puppetlike syndrome|AS|happy puppet syndrome (formerly)|happy puppet syndrome|happy puppet syndrome, formerly MESH:D017204|ICD9:759.89|Orphanet:72|GARD:0005810|ICD10:Q93.5|MedDRA:10049004|MESH:C531619|DOID:1932|NCIT:C75462|UMLS:C0162635|ICD10:Q93.51|OMIM:105830|SCTID:76880004 https://github.com/monarch-initiative/mondo/issues/3941 owl:Class HGNC:1502 biolink:NamedThing CASP14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0032943 biolink:NamedThing Abnormal urine pH A deviation of urine pH from the normal range of 4.5 to 7.8. tmpaxzxjjyw_mondo_relaxed.owl Urine pH typically is 5 as a result of daily net acid excretion. The interpretation of the urine pH depends on the medical context. peter human_phenotype owl:Class HP:0003110 biolink:NamedThing Abnormality of urine homeostasis An abnormality of the composition of urine or the levels of its components. tmpaxzxjjyw_mondo_relaxed.owl Pee issues|Urine issues UMLS:C4025655 HP:0011865|HP:0011866 human_phenotype owl:Class MONDO:0014316 biolink:NamedThing Alzheimer disease 19 Any Alzheimer disease in which the cause of the disease is a mutation in the PLD3 gene. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer disease 19, late-onset|Alzheimer disease caused by mutation in PLD3|Alzheimer's disease type 19|Alzheimer disease 19|Alzheimer disease 19 late onset|AD19|Alzheimer's disease 19|Alzheimer disease type 19|PLD3 Alzheimer disease UMLS:C3810349|OMIM:615711|DOID:0110051 owl:Class UBERON:0005215 biolink:NamedThing kidney interstitium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018645 biolink:NamedThing IgG4-related sclerosing cholangitis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:447764|UMLS:C4302109|SCTID:722870008|ICD10:K83.0 owl:Class MONDO:0007119 biolink:NamedThing isolated aniridia Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic aniridia|aniridia without systemic involvement OMIM:106210|Orphanet:250923|UMLS:C0003076|OMIM:617141|OMIMPS:106210|OMIM:617142|ICD10:Q13.1 owl:Class MONDO:0003284 biolink:NamedThing mediastinum leiomyoma A benign smooth muscle neoplasm arising from the mediastium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of mediastinum|mediastinum leiomyoma|mediastinal leiomyoma|leiomyoma of the mediastinum NCIT:C6598|UMLS:C1334659|DOID:5123 owl:Class UBERON:0004386 biolink:NamedThing epiphysis of ulna tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006484 biolink:NamedThing usual ductal breast hyperplasia A neoplastic ductal proliferative lesion of the breast characterized by the formation of secondary lumens and prominent intraductal proliferation of a heterogeneous cellular population that may include epithelial cells, myoepithelial cells, or metaplastic apocrine cells. tmpaxzxjjyw_mondo_relaxed.owl ordinary intraductal breast hyperplasia|UDH|ductal breast hyperplasia of usual type NCIT:C27941|EFO:1000612|UMLS:C3532429|SCTID:472905007|ICD9:611.89 owl:Class UBERON:0014776 biolink:NamedThing midbrain neuromere tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015883 biolink:NamedThing hidrotic ectodermal dysplasia, Halal type Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia with skin anomalies and intellectual disability|hidrotic ectodermal dysplasia Halal type|Halal-Setton-Wang syndrome|trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome|Halal Setton Wang syndrome GARD:0000280|ICD10:Q82.8|UMLS:C2930953|SCTID:721147000|Orphanet:1809|MESH:C535621 owl:Class GO:0098644 biolink:NamedThing complex of collagen trimers A complex of collagen trimers such as a fibril or collagen network. tmpaxzxjjyw_mondo_relaxed.owl Supramolecular aggregate of collagen|Supramolecular collagen assembly owl:Class UBERON:0036242 biolink:NamedThing post-embryonic notochord tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4057 biolink:NamedThing G6PD tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000409 biolink:NamedThing myocyte of sinoatrial node A muscle cell that is part of the sinoatrial node. tmpaxzxjjyw_mondo_relaxed.owl myocyte of sinoatrial node|sinoatrial node cell|SA nodal myocyte|sinoatrial node myocyte|SA node cardiac muscle cell|sinuatrial node myocyte FMA:67102 cell owl:Class MONDO:0013191 biolink:NamedThing focal segmental glomerulosclerosis 5 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene. tmpaxzxjjyw_mondo_relaxed.owl focal segmental glomerulosclerosis type 5|INF2 focal segmental glomerulosclerosis|focal segmental glomerulosclerosis caused by mutation in INF2|focal segmental glomerulosclerosis 5|FSGS5|glomerulosclerosis, focal segmental, 5 UMLS:C2750475|DOID:0111130|ICD10:N04.1|OMIM:613237|MESH:C567687 owl:Class GO:0045700 biolink:NamedThing regulation of spermatid nuclear differentiation Any process that modulates the frequency, rate or extent of spermatid nuclear differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033304 biolink:NamedThing nonsyndromic deafness, Y-linked tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:400043 owl:Class UBERON:0001961 biolink:NamedThing mucosa-associated lymphoid tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003551 biolink:NamedThing thymic adenosquamous carcinoma A rare carcinoma that arises from the thymus and is characterized by the presence of glandular and squamous carcinomatous components. tmpaxzxjjyw_mondo_relaxed.owl adenosquamous carcinoma of the Thymus|thymic adenosquamous carcinoma|thymus adenosquamous carcinoma|adenosquamous carcinoma of Thymus|Thymus adenosquamous carcinoma NCIT:C6458|DOID:5626|UMLS:C1332171 owl:Class MONDO:0008552 biolink:NamedThing platelet-type bleeding disorder 16 An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. tmpaxzxjjyw_mondo_relaxed.owl thrombasthenia of Glanzmann and Naegeli, autosomal dominant|platelet-type bleeding disorder 16|autosomal dominant Glanzmann thrombasthenia|bleeding disorder, platelet-type, 16|autosomal dominant thrombasthenia of Glanzmann and Naegeli|Glanzmann thrombasthenia, autosomal dominant|BDPLT16 UMLS:C1861195|DOID:0060691|MESH:C566061|OMIM:187800|ICD10:D69.4|Orphanet:140957 owl:Class MONDO:0009742 biolink:NamedThing neuroectodermal melanolysosomal disease Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment. tmpaxzxjjyw_mondo_relaxed.owl Elejalde disease|ELEJALDE disease|neuroectodermal melanolysosomal disease MESH:C536203|UMLS:C1860157|ICD10:L81.4|OMIM:256710|Orphanet:33445|SCTID:724091002 owl:Class CHEBI:75767 biolink:NamedThing animal metabolite Any eukaryotic metabolite produced during a metabolic reaction in animals that include diverse creatures from sponges, insects to mammals. tmpaxzxjjyw_mondo_relaxed.owl animal metabolites owl:Class GO:0046325 biolink:NamedThing negative regulation of glucose import Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. tmpaxzxjjyw_mondo_relaxed.owl inhibition of glucose import|down regulation of glucose import|down-regulation of glucose import|downregulation of glucose import|negative regulation of glucose uptake owl:Class UBERON:0009126 biolink:NamedThing nodosal placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012485 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 68 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive deafness 68|autosomal recessive nonsyndromic deafness 68|autosomal recessive nonsyndromic deafness type 68|autosomal recessive nonsyndromic deafness caused by mutation in S1PR2|DFNB68|deafness, autosomal recessive 68|S1PR2 autosomal recessive nonsyndromic deafness Orphanet:90636|ICD10:H90.3|UMLS:C1835854|OMIM:610419|DOID:0110519|MESH:C563669 owl:Class UBERON:0002177 biolink:NamedThing right main bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003502 biolink:NamedThing ureter squamous cell carcinoma A rare squamous cell carcinoma that arises from the ureter. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of the ureter|ureteral epidermoid carcinoma|squamous cell carcinoma of ureter|ureteral squamous cell carcinoma|ureter squamous cell carcinoma|epidermoid carcinoma of ureter|epidermoid carcinoma of the ureter|ureter epidermoid carcinoma DOID:5539|UMLS:C1336879|NCIT:C6154 owl:Class UBERON:0003502 biolink:NamedThing neck blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010213 biolink:NamedThing laryngeal pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011380 biolink:NamedThing female external urethral sphincter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002674 biolink:NamedThing stricture or kinking of ureter tmpaxzxjjyw_mondo_relaxed.owl ICD9:593.3|DOID:3508 owl:Class CL:0000020 biolink:NamedThing spermatogonium An euploid male germ cell of an early stage of spermatogenesis. tmpaxzxjjyw_mondo_relaxed.owl spermatogonial cell FMA:72291|FBbt:00004935|BTO:0000958|EMAPA:31482|CALOHA:TS-2193 cell owl:Class CL:0000015 biolink:NamedThing male germ cell Male germ cell is a germ cell that supports male gamete production. tmpaxzxjjyw_mondo_relaxed.owl FMA:72290|MA:0002765|ncithesaurus:Spermatogenic_Cell|VHOG:0001531 cell owl:Class HGNC:17024 biolink:NamedThing PHF11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000493 biolink:NamedThing mesothelial cell of visceral pleura A mesothelial cell that is part of the visceral pleura. tmpaxzxjjyw_mondo_relaxed.owl FMA:86739 cell owl:Class UBERON:0013778 biolink:NamedThing skin of sole of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009290 biolink:NamedThing glycogen storage disease II Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal. tmpaxzxjjyw_mondo_relaxed.owl glycogen storage disease type 2|acid maltase deficiency disease|deficiency of glucoamylase|glycogen storage disease II|glycogenosis type 2|GSD2|deficiency of alpha-glucosidase|Pompe disease|Pompe's disease|glycogen storage disease 2|glycogenosis, generalized, Cardiac form|GSD 2|glycogen storage disease type II|Alpha-1,4-glucosidase deficiency|glycogenosis type II|generalized glycogenosis|glucosidase acid-1,4-alpha deficiency|glycogen storage disease due to acid maltase deficiency|GSD due to acid maltase deficiency|GSD type II|glycogen storage disease caused by mutation in GAA|GSD type 2|lysosomal alpha-1,4-glucosidase deficiency|GAA deficiency|Cardiomegalia Glycogenica diffusa|acid maltase deficiency|GAA glycogen storage disease|glycogenosis due to acid maltase deficiency|deficiency of maltase|Aglucosidase alfa|Alpha-1,4-glucosidase acid deficiency|glycogen storage disease, type II|GSD II|glycogenosis, type 2|deficiency of lysosomal alpha-glucosidase GARD:0002503|UMLS:C1968741|GARD:0005714|OMIM:232300|UMLS:C0017921|ICD10:E74.02|ICD10:E74.0|DOID:2752|NCIT:C84734|Orphanet:365|SCTID:274864009|MedDRA:10053185 owl:Class MONDO:0004666 biolink:NamedThing metagonimiasis An infection that is most commonly caused by the intestinal fluke Metagonimus yokogawai, which is most commonly found in the Far East, and which is transmitted via consumption of contaminated raw or undercooked fish. Symptoms typically range from asymptomatic to intermittent abdominal pain and diarrhea, with occasional ectopic infection. tmpaxzxjjyw_mondo_relaxed.owl Metagonimus yokogawai infection|infections, Metagonimus yokogawai|infection by Metagonimus yokogawai DOID:884|NCIT:C128390|GARD:0009745|SCTID:37832003|UMLS:C0025530|ICD10:B66.8|ICD9:121.5 https://rarediseases.info.nih.gov/diseases/9745/metagonimiasis owl:Class MONDO:0002477 biolink:NamedThing prostate neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl prostate gland NET|neuroendocrine neoplasm of prostate gland|neuroendocrine neoplasm of prostate|prostate neuroendocrine carcinoma|prostate gland neuroendocrine tumor|prostate gland neuroendocrine tumor, well differentiated, low or intermediate grade|prostate gland neuroendocrine neoplasm|prostate neuroendocrine neoplasm|neuroendocrine neoplasm of the prostate|neuroendocrine tumor of the prostate NCIT:C5545|UMLS:C1335515|DOID:2992|ONCOTREE:PRNE owl:Class GO:1900005 biolink:NamedThing positive regulation of serine-type endopeptidase activity Any process that activates or increases the frequency, rate or extent of serine-type endopeptidase activity. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of blood coagulation factor activity|up regulation of serine-type endopeptidase activity|up regulation of blood coagulation factor activity owl:Class GO:1900003 biolink:NamedThing regulation of serine-type endopeptidase activity Any process that modulates the frequency, rate or extent of serine-type endopeptidase activity. tmpaxzxjjyw_mondo_relaxed.owl regulation of blood coagulation factor activity owl:Class MONDO:0010637 biolink:NamedThing keratosis follicularis spinulosa decalvans, X-linked tmpaxzxjjyw_mondo_relaxed.owl keratosis follicularis spinulosa decalvans cum ophiasi|keratosis follicularis Spinulosa decalvans cum Ophiasi|keratosis follicularis spinulosa decalvans, X-linked|Kfsdx|keratosis follicularis SPINULOSA decalvans, X-linked|keratosis follicularis spinulosa decalvans|KFSDX OMIM:308800|MESH:C536159|UMLS:C3887525|Orphanet:2340 owl:Class MONDO:0008899 biolink:NamedThing camptodactyly syndrome, Guadalajara type 2 Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. tmpaxzxjjyw_mondo_relaxed.owl camptodactyly syndrome Guadalajara type 2|camptodactyly syndrome, Guadalajara, type II|Guadalajara camptodactyly syndrome type II|camptodactyly syndrome, Guadalajara, type 2 MESH:C567138|OMIM:211920|ICD10:Q87.1|SCTID:720603002|GARD:0001068|Orphanet:1326 https://rarediseases.info.nih.gov/diseases/1068/camptodactyly-syndrome-guadalajara-type-2 owl:Class GO:0014052 biolink:NamedThing regulation of gamma-aminobutyric acid secretion Any process that modulates the frequency, rate or extent of the regulated release of gamma-aminobutyric acid. tmpaxzxjjyw_mondo_relaxed.owl regulation of GABA secretion owl:Class UBERON:0003594 biolink:NamedThing pelvis connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004178 biolink:NamedThing aorta smooth muscle tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013649 biolink:NamedThing hypotrichosis 9 A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3. tmpaxzxjjyw_mondo_relaxed.owl hypt9|hypotrichosis 9|hypotrichosis type 9|HYPT9 DOID:0110706|Orphanet:55654|OMIM:614237|UMLS:C3280252 owl:Class MONDO:0015033 biolink:NamedThing ABeta amyloidosis, dutch type Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia. tmpaxzxjjyw_mondo_relaxed.owl cerebral amyloid angiopathy, APP-related, Dutch variant|ABetaE22Q amyloidosis|HCHWA-D|hereditary cerebral hemorrhage with amyloidosis, Dutch type|HCHWA, Dutch type OMIM:605714|ICD10:I68.0*|Orphanet:100006|SCTID:56453003|ICD9:277.39|ICD10:E85.4+ owl:Class MONDO:0011583 biolink:NamedThing cerebral amyloid angiopathy, APP-related A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3. tmpaxzxjjyw_mondo_relaxed.owl APP-related cerebral amyloid angiopathy|cerebral amyloid angiopathy, APP-related, Flemish variant|cerebral amyloid angiopathy, APP-related, Italian variant|HCHWAD|amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant|cerebral amyloid angiopathy, APP-related|cerebral amyloid angiopathy, APP-related, Dutch variant|cerebral amyloid angiopathy, APP-related, Iowa variant|cerebral amyloid angiopathy, APP-related, Arctic variant|amyloidosis, Cerebroarterial, APP-related Orphanet:324708|UMLS:C2751494|UMLS:C3888308|Orphanet:324723|Orphanet:324718|OMIM:605714|Orphanet:324713|Orphanet:85458|UMLS:C2751536|UMLS:C3888307|Orphanet:100006|UMLS:C3888309|Orphanet:324703|DOID:0070028 owl:Class MONDO:0001076 biolink:NamedThing glucose intolerance The inability to regulate blood glucose levels resulting in hyperglycemia. tmpaxzxjjyw_mondo_relaxed.owl malabsorption of glucose|glucose: intolerance|glucose: [intolerance] or [malabsorption]|glucose: malabsorption MESH:D018149|ICD10:R73.09|ICD9:271.3|NCIT:C34646|UMLS:C0271650|SCTID:267426009|DOID:10603 owl:Class MONDO:0011731 biolink:NamedThing glucose-galactose malabsorption Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period. tmpaxzxjjyw_mondo_relaxed.owl GGM|carbohydrate intolerance of glucose galactose|SGLT1 deficiency|glucose/galactose malabsorption|monosaccharide malabsorption|Complex carbohydrate intolerance|glucose galactose malabsorption deficiency|glucose-galactose malabsorption ICD10:E74.3|GARD:0006521|ICD9:271.3|OMIM:606824|MESH:C562602|Orphanet:35710|SCTID:190749000|MedDRA:10066388 https://rarediseases.info.nih.gov/diseases/6521/glucose-galactose-malabsorption owl:Class GO:0030431 biolink:NamedThing sleep Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain. tmpaxzxjjyw_mondo_relaxed.owl dormancy|lethargus|diapause owl:Class MONDO:0020229 biolink:NamedThing cerebral disease with cataract tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98645|UMLS:CN207057 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: nervous system disorder' MONDO_0005071 owl:Class MONDO:0010319 biolink:NamedThing syndromic X-linked intellectual disability Hedera type X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. tmpaxzxjjyw_mondo_relaxed.owl X-linked mental retardation with epilepsy|X-linked intellectual disability with epilepsy|X-linked intellectual disability, Hedera type|mental retardation, X-linked, with epilepsy|intellectual disability, X-linked, syndromic, Hedera type|MRXSH|MRXE|mental retardation, X-linked, syndromic, Hedera type|intellectual disability, X-linked, with epilepsy Orphanet:93952|DOID:0060806|UMLS:C1845543|MESH:C564516|Orphanet:2076|OMIM:300423 owl:Class MONDO:0100146 biolink:NamedThing ATP6AP2-related disorder Variants in the gene ATP6AP2 have been associated with a multitude of diseases, including X-linked syndromic ID Hedera type, X-linked parkinsonism-spasticity syndrome, and congenital disorder of glycosylation type 2R. Phenotypes include global developmental delay, intellectual disability, progressive neurologic decline, spasticity, seizures, infantile onset of liver failure, recurrent infections, dysmorphic features, and features of parkinsonism (rigidity, resting tremor, bradykinesia). These phenotypes do not appear in all individuals with one of the above disease assertions, but many are overlapping phenotypes. tmpaxzxjjyw_mondo_relaxed.owl ATP6AP2-related disorder http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014692 biolink:NamedThing retinitis pigmentosa 74 Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 74|RP74|retinitis pigmentosa caused by mutation in BBS2|retinitis pigmentosa 74|BBS2 retinitis pigmentosa OMIM:616562|ICD10:H35.5|Orphanet:791|DOID:0110401|UMLS:C4225281 owl:Class MONDO:0017492 biolink:NamedThing fibular hemimelia, unilateral tmpaxzxjjyw_mondo_relaxed.owl fibular longitudinal meromelia, unilateral ICD10:Q72.6|Orphanet:295081 owl:Class MONDO:0000482 biolink:NamedThing focal hand dystonia A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. tmpaxzxjjyw_mondo_relaxed.owl organic writer's cramp|hand and arm dystonia|writer's cramp ICD9:333.84|UMLS:C0154676|DOID:0050841|SCTID:52008007|MESH:D020821 owl:Class GO:0050996 biolink:NamedThing positive regulation of lipid catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of lipid degradation|activation of lipid catabolic process|positive regulation of lipid breakdown|upregulation of lipid catabolic process|up-regulation of lipid catabolic process|positive regulation of lipid catabolism|up regulation of lipid catabolic process|stimulation of lipid catabolic process owl:Class UBERON:8440004 biolink:NamedThing laminar subdivision of the cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019864 biolink:NamedThing tetrasomy 21 Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Haematological malignancies are also associated and may occur earlier than in trisomy 21. tmpaxzxjjyw_mondo_relaxed.owl tetrasomy type 21|Isochromosome 21 GARD:0012480|Orphanet:96055|ICD10:Q99.8|SCTID:764690001 https://rarediseases.info.nih.gov/diseases/12480/tetrasomy-21 owl:Class MONDO:0030502 biolink:NamedThing tetrasomy A chromosomal anomaly consisting of the presence of two chromosomes of the same type in addition to the normal diploid number. tmpaxzxjjyw_mondo_relaxed.owl tetrasomy EFO:1001297|MESH:D058670|NCIT:C36601 owl:Class CL:0000847 biolink:NamedThing ciliated olfactory receptor neuron An olfactory receptor cell in which the apical ending of the dendrite is a pronounced ciliated olfactory knob. tmpaxzxjjyw_mondo_relaxed.owl ciliated olfactory sensory neuron|ciliated sensory neuron cell owl:Class CL:0000207 biolink:NamedThing olfactory receptor cell tmpaxzxjjyw_mondo_relaxed.owl odorant receptor cell|olfactory receptor neuron|olfactory sensory neuron|Schultze's cell Wikipedia:Olfactory_receptor_neuron|FMA:67860|BTO:0004185 cell owl:Class MONDO:0004420 biolink:NamedThing breast malignant eccrine spiradenoma A rare tumor characterized by malignant transformation of an eccrine spiradenoma of the breast. tmpaxzxjjyw_mondo_relaxed.owl malignant eccrine spiradenoma of the breast|malignant spiradenoma of breast|malignant eccrine spiradenoma of breast|breast malignant spiradenoma|malignant breast eccrine spiradenoma DOID:7983|NCIT:C5180|UMLS:C1334565 owl:Class MONDO:0004412 biolink:NamedThing malignant spiradenoma A very rare, aggressive carcinoma of the sweat glands arising from malignant transformation of a long standing spiradenoma. It usually grows in the upper extremities, lower extremities, trunk, and head and neck. It has the tendency to recur and metastasize most often to the lymph nodes, bones, and lungs. tmpaxzxjjyw_mondo_relaxed.owl Spiradenocarcinoma|malignant eccrine spiradenoma|malignant eccrine spiradenoma (morphologic abnormality)|malignant spiradenoma|spiradenoma, malignant NCIT:C5117|SCTID:403942003|ICDO:8403/3|DOID:7960|UMLS:C1266063|GARD:0010466 owl:Class MONDO:0004944 biolink:NamedThing neurosyphilis Infection of the brain or spinal cord by Treponema pallidum. It occurs many years following the original infection which remained untreated. Signs and symptoms include abnormal gait, blindness, depression, paralysis, seizures and dementia. tmpaxzxjjyw_mondo_relaxed.owl late neurosyphilis|neurosyphilis|tertiary neurosyphilis NCIT:C84935|DOID:9988|GARD:0008729|UMLS:C0027927|ICD9:094.9|ICD9:094|ICD10:A52.3|ICD9:094.89|SCTID:26039008 owl:Class MONDO:0004497 biolink:NamedThing tertiary syphilis A stage of syphilis that occurs fifteen to thirty years after the initial infection; it can include gumma formation and cardiovascular or central nervous system involvement (neurosyphilis). tmpaxzxjjyw_mondo_relaxed.owl tertiary syphilis|late syphilis|late tertiary syphilis ICD10:A52|ICD10:A52.9|NCIT:C128414|MESH:C536774|ICD10:A52.3|ICD9:097.0|DOID:8200|SCTID:72083004|ICD9:095.8|ICD9:095.9|UMLS:C0153188 owl:Class UBERON:0013121 biolink:NamedThing proximal epiphysis of phalanx of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004447 biolink:NamedThing proximal epiphysis of phalanx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004603 biolink:NamedThing collagenopathy tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4296 biolink:NamedThing GLA tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:73263 biolink:NamedThing cyclooxygenase 3 inhibitor A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 3. tmpaxzxjjyw_mondo_relaxed.owl cyclooxygenase-3 inhibitors|cyclooxygenase-3 inhibitor|cyclo-oxygenase 3 inhibitor|cyclo-oxygenase 3 inhibitors|cyclooxygenase 3 inhibitors|COX-3 inhibitor|COX-3 inhibitors owl:Class CHEBI:35544 biolink:NamedThing EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitor A compound or agent that combines with cyclooxygenases (EC 1.14.99.1) and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of icosanoids, prostaglandins, and thromboxanes. tmpaxzxjjyw_mondo_relaxed.owl (PG)H synthase inhibitors|prostaglandin G/H synthase inhibitor|prostaglandin synthetase inhibitors|prostaglandin endoperoxide synthetase inhibitor|fatty acid cyclooxygenase inhibitors|cyclooxygenase inhibitors|EC 1.14.99.1 (cyclooxygenase) inhibitors|PG synthetase inhibitors|EC 1.14.99.1 (prostaglandin-endoperoxide synthase) inhibitors|prostaglandin synthase inhibitors|prostaglandin G/H synthase inhibitors|EC 1.14.99.1 inhibitor|COX inhibitor|prostaglandin endoperoxide synthetase inhibitors|(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitor|cyclooxygenase (EC 1.14.99.1) inhibitor|EC 1.14.99.1 inhibitors|cyclooxygenase (EC 1.14.99.1) inhibitors|prostaglandin synthetase inhibitor|fatty acid cyclooxygenase inhibitor|(5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate,hydrogen-donor:oxygen oxidoreductase inhibitors|(PG)H synthase inhibitor|cyclooxygenase inhibitor|EC 1.14.99.1 (cyclooxygenase) inhibitor|PG synthetase inhibitor|prostaglandin synthase inhibitor owl:Class HGNC:11551 biolink:NamedThing BRF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007592 biolink:NamedThing ciliated columnar epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007601 biolink:NamedThing ciliated epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013381 biolink:NamedThing neuropathy, hereditary sensory, type 1D A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q. tmpaxzxjjyw_mondo_relaxed.owl hereditary sensory neuropathy type 1D|hereditary sensory neuropathy type ID|HSN1D|neuropathy, hereditary sensory, type ID OMIM:613708|UMLS:C3150972|Orphanet:36386|DOID:0070156 owl:Class HGNC:20862 biolink:NamedThing SLC39A8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003944 biolink:NamedThing endobronchial leiomyoma A benign smooth muscle neoplasm arising endobronchially. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl lung leiomyoma of bronchus|endobronchial leiomyoma|bronchus lung leiomyoma NCIT:C5661|DOID:6608|UMLS:C1333386 owl:Class MONDO:0003293 biolink:NamedThing lung leiomyoma A benign smooth muscle neoplasm arising from the lung. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl lung leiomyoma|leiomyoma of the lung|leiomyoma of lung|pulmonary leiomyoma DOID:5136|UMLS:C1334447|SCTID:707374005|NCIT:C5660 owl:Class MONDO:0041259 biolink:NamedThing diphtheritic myocarditis An myocarditis caused by infection with Corynebacterium diphtheriae. tmpaxzxjjyw_mondo_relaxed.owl diphtheritic myocarditis|Corynebacterium diphtheriae myocarditis|Corynebacterium diphtheriae caused myocarditis SCTID:26117009|UMLS:C0152952 owl:Class MONDO:0017500 biolink:NamedThing congenital absence of both lower leg and foot, unilateral tmpaxzxjjyw_mondo_relaxed.owl tibiofibular terminal transverse meromelia, unilateral ICD10:Q72.2|Orphanet:295097 owl:Class MONDO:0017444 biolink:NamedThing congenital absence of both lower leg and foot tmpaxzxjjyw_mondo_relaxed.owl tibiofibular terminal transverse meromelia Orphanet:294981|SCTID:278532000|ICD10:Q72.2 owl:Class MONDO:0007022 biolink:NamedThing xanthogranulomatous pyelonephritis Chronic, destructive infection of the kidney characterized by lipid-laden macrophages in the setting of obstruction secondary to infected renal stones, most commonly caused by Proteus or Escherichia coli. tmpaxzxjjyw_mondo_relaxed.owl xanthogranulomatous pyelonephritis DOID:11401|MedDRA:10074389|NCIT:C123038|MESH:D011705|GARD:0012021|EFO:1001244|UMLS:C0034188|ICD9:582.89|SCTID:38898003 owl:Class MONDO:0017333 biolink:NamedThing hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism tmpaxzxjjyw_mondo_relaxed.owl Pol III-related leukodystrophy 2022-03-01 UMLS:CN168056|Orphanet:289494 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: leukodystrophy MONDO_0019046 owl:Class MONDO:0020710 biolink:NamedThing amnionitis Inflammation of the amnion. tmpaxzxjjyw_mondo_relaxed.owl infection of amniotic cavity|amnionitides|Infection of amniotic cavity|amniotic cavity infection|amniotic infection syndrome|amnionitis NCIT:C50459|UMLS:C0002631|ICD9:658.40|SCTID:10573002 https://github.com/monarch-initiative/mondo/issues/2016 owl:Class GO:0106064 biolink:NamedThing regulation of cobalamin metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030656 biolink:NamedThing regulation of vitamin metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpaxzxjjyw_mondo_relaxed.owl regulation of vitamin metabolism owl:Class MONDO:0003357 biolink:NamedThing lung leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl lung leiomyosarcoma|leiomyosarcoma of lung|leiomyosarcoma of the lung|pulmonary leiomyosarcoma NCIT:C5667|UMLS:C1334448|DOID:5265 owl:Class MONDO:0018897 biolink:NamedThing primary cutaneous CD30+ T-cell lymphoproliferative disease tmpaxzxjjyw_mondo_relaxed.owl primary cutaneous Ki-1+ T-cell lymphoproliferative disease MedDRA:10065863|Orphanet:541|UMLS:C1301362|ICD10:C86.6|UMLS:CN205268|MESH:D054446 owl:Class MONDO:0017204 biolink:NamedThing toxic maculopathy due to antimalarial drugs Toxic maculopathy due to antimalarial drugs is a rare, acquired eye disease, due to long-term exposure to chloroquinine (CQ) or hydrochloroquinine (HCQ), characterized by a slowly progressive, usually non-reversible, development of bilateral atrophic bull's-eye maculopathy (progressive loss of central vision acuity, reduced color vision and central scotoma), which in severe cases can spread over the entire fundus, leading to widespread retinal atrophy and visual loss. tmpaxzxjjyw_mondo_relaxed.owl SCTID:763621004|ICD10:T37.2|ICD10:H35.3|Orphanet:279894|UMLS:CN202676 owl:Class CL:1001021 biolink:NamedThing kidney loop of Henle descending limb epithelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001053 cell owl:Class CL:1000909 biolink:NamedThing kidney loop of Henle epithelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001047 cell owl:Class MONDO:0016330 biolink:NamedThing non-familial hypertrophic cardiomyopathy An instance of hypertrophic cardiomyopathy that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired hypertrophic cardiomyopathy Orphanet:217598|UMLS:CN226903 owl:Class MONDO:0009288 biolink:NamedThing glycogen storage disease Ib A type of glycogenosis due to G6P deficiency. tmpaxzxjjyw_mondo_relaxed.owl glycogen storage disease type Ic|glycogenosis type 1b|glycogen storage disease type 1b|glycogen storage disease type I non-a|glycogen storage disease Id|glycogen storage disease Ic|GSD1B|GSD due to G6P deficiency type IB|glycogen storage disease type IB|glycogen storage disease due to G6P deficiency type IB|G6PT deficiency|GSD due to G6PT deficiency|GSD type 1 non a|glucose-6-phosphate transport defect|Gsd1C|GSDIb|GSD Ic|glycogenosis type IB|glycogenosis due to glucose-6-phosphatase deficiency type 1B|G6P deficiency type IB|GSD Ib|GSD type 1b|GSD type IB|G6P translocase deficiency|glycogenosis due to glucose-6-phosphatase transport defect type IB|glycogen storage disease Ib|GSD1C OMIM:232220|SCTID:237965005|Orphanet:79259|UMLS:C0342749|NCIT:C122661|SCTID:30102006|OMIM:232240|MESH:C562594|Orphanet:364|ICD10:E74.0|GARD:0002515 Editor note: TODO decide whether to merge Ic owl:Class MONDO:0004045 biolink:NamedThing pediatric intraocular retinoblastoma Retinoblastoma during childhood that has not spread beyond the eye. tmpaxzxjjyw_mondo_relaxed.owl childhood intraocular retinoblastoma|pediatric intraocular retinoblastoma|intraocular retinoblastoma of childhood|intraocular retinoblastoma DOID:6938|NCIT:C9047|UMLS:C1321869 owl:Class MONDO:0003077 biolink:NamedThing intraocular retinoblastoma Retinoblastoma restricted to local involvement. tmpaxzxjjyw_mondo_relaxed.owl intraocular retinoblastoma DOID:4653|UMLS:C0278717|NCIT:C7846 owl:Class GO:0044247 biolink:NamedThing cellular polysaccharide catabolic process The chemical reactions and pathways resulting in the breakdown of polysaccharides, polymers of many (typically more than 10) monosaccharide residues linked glycosidically, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl cellular polysaccharide catabolism|cellular polysaccharide breakdown|cellular polysaccharide degradation owl:Class NCBITaxon:6760 biolink:NamedThing Scylla tmpaxzxjjyw_mondo_relaxed.owl mud crabs|mangrove crabs GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6757 biolink:NamedThing Portunidae tmpaxzxjjyw_mondo_relaxed.owl swimming crabs GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004254 biolink:NamedThing forelimb zeugopod muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008545 biolink:NamedThing thalassemia, beta+, silent allele tmpaxzxjjyw_mondo_relaxed.owl thalassemia, beta+, silent allele UMLS:C1861232|OMIM:187550|MESH:C566065 owl:Class MONDO:0019402 biolink:NamedThing beta thalassemia Beta-thalassemia (BT) is characterized by deficiency (Beta+) or absence (Beta0) of synthesis of the beta globin chains of hemoglobin (Hb). tmpaxzxjjyw_mondo_relaxed.owl Thalassemias, beta-|Beta thalassemia minor|thalassemia major|erythroblastic anemia|thalassemia, Hispanic gamma-delta-beta|Beta thalassemia intermedia OMIM:187550|MedDRA:10043391|ICD9:282.44|OMIM:613985|DOID:12241|OMIM:603902|GARD:0000871|ICD10:D56.1|SCTID:65959000|MESH:D017086|ICD9:282.49|NCIT:C34375|Orphanet:848 owl:Class ENVO:09200017 biolink:NamedThing composition of water The composition of some water. tmpaxzxjjyw_mondo_relaxed.owl water composition owl:Class HGNC:3182 biolink:NamedThing PHC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9251 biolink:NamedThing CTSA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012533 biolink:NamedThing autism, susceptibility to, 7 tmpaxzxjjyw_mondo_relaxed.owl AUTS7|autism, susceptibility to, 7 OMIM:610676 owl:Class UBERON:0003321 biolink:NamedThing mesenchyme of knee tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002979 biolink:NamedThing papillary squamous carcinoma A well differentiated squamous cell carcinoma characterized by a papillary, exophytic growth pattern and hyperkeratosis. The most commonly affected anatomic sites are the larynx, penis, cervix, vagina, and vulva. tmpaxzxjjyw_mondo_relaxed.owl papillary squamous cell carcinoma|papillary epidermoid cell carcinoma|papillary squamous carcinoma|papillary epidermoid carcinoma DOID:4385|UMLS:C0334244|ICDO:8052/3|NCIT:C4102 owl:Class MONDO:0006509 biolink:NamedThing papillary carcinoma A malignant epithelial neoplasm characterized by a papillary growth pattern. A papillary carcinoma may be composed of glandular cells (papillary adenocarcinoma), squamous cells (papillary squamous cell carcinoma), or transitional cells (papillary transitional cell carcinoma). Bladder carcinoma is a representative example of papillary transitional cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl papillary carcinoma|papillary carcinoma NOS (morphologic abnormality)|papillary carcinoma (morphologic abnormality) EFO:1000646|ICDO:8050/3|MESH:D002291|NCIT:C2927|UMLS:C0007133|DOID:3113 owl:Class ENVO:01001308 biolink:NamedThing hydroform A geographic feature which is primarily composed of a continuous volume of liquid water held in shape or sustained by an environmental process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004886 biolink:NamedThing diffuse secondary choroid atrophy tmpaxzxjjyw_mondo_relaxed.owl ICD9:363.42|ICD10:H31.12|UMLS:C0154892|SCTID:193463006|DOID:981 owl:Class MONDO:0012160 biolink:NamedThing spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl SmD-CRD|SMDCRD|spondylometaphyseal dysplasia with cone-rod dystrophy|spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MESH:C563825|OMIM:608940|UMLS:C1837073|ICD10:Q77.8|GARD:0010647|Orphanet:85167 owl:Class UBERON:0011197 biolink:NamedThing parathyroid epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0022604 biolink:NamedThing regulation of cell morphogenesis Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cell shape and cell size|regulation of cell shape and cell size|positive regulation of cell shape and cell size owl:Class MONDO:0006518 biolink:NamedThing sporadic Creutzfeld Jacob disease Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common type of CJD, accounting for around 85% of cases. The precise cause of sporadic CJD is unclear, but it's been suggested that a normal brain protein changes abnormally ('misfolds') and turns into a prion. Most cases of sporadic CJD occur in adults aged between 45 and 75. On average, symptoms develop at age 60-65 years. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000656 owl:Class UBERON:0003593 biolink:NamedThing thoracic cavity connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060456 biolink:NamedThing positive regulation of digestive system process Any process that increases the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005445 biolink:NamedThing visceral leishmaniasis A severe form of leishmaniasis characterized by irregular bouts of fever, substantial weight loss, swelling of the spleen and liver, and anaemia (which may be serious). If left untreated it may lead to death. Two species of Leishmania are known to give rise to the visceral form of the disease. The species commonly found in East Africa and the Indian subcontinent is L. donovani and the species found in Europe, North Africa, and Latin America is L. infantum, also known as L. chagasi. tmpaxzxjjyw_mondo_relaxed.owl kala-azar|infection by visceral leishmaniasis|kala-azar, susceptibility to|viscus leishmaniasis|kala-azar susceptibility ICD10:B55.0|SCTID:186803007|DOID:9146|UMLS:C0023290|MESH:D007898|NCIT:C34771|ICD9:085.0|OMIMPS:608207|EFO:0005045 Editor note: split out susceptibility/PS owl:Class HGNC:12723 biolink:NamedThing VSX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005471 biolink:NamedThing neurally mediated hypotension Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal tmpaxzxjjyw_mondo_relaxed.owl EFO:0005254 owl:Class MONDO:0005468 biolink:NamedThing hypotensive disorder Blood pressure that is abnormally low. tmpaxzxjjyw_mondo_relaxed.owl hypotension (disease)|hypotension NCIT:C3128|HP:0002615|ICD9:458.8|SCTID:45007003|MESH:D007022|ICD9:458.9|EFO:0005251|ICD9:458 owl:Class CL:0002015 biolink:NamedThing Kit-negative, Ly-76 high polychromatophilic erythroblast A polychromatophilic erythroblast that is Lyg 76-high and is Kit-negative. tmpaxzxjjyw_mondo_relaxed.owl late basophilic and polychromatophilic erythroblast tmeehan 2010-04-26T10:53:11Z cell owl:Class MONDO:0003924 biolink:NamedThing adrenal cortex adenoma A benign neoplasm that can arise from any of the adrenal cortical layers. It can be associated with the overproduction of glucocorticoids (Cushing's syndrome), androgenic or estrogenic steroids (adrenogenital syndrome), or mineralocorticoids (Conn's syndrome). (Sternberg Diagnostic Surgical Pathology, 3rd ed.) tmpaxzxjjyw_mondo_relaxed.owl adenoma of adrenal cortex|adenoma, adrenocortical, benign|adenoma of adrenal gland|adrenal gland adenoma|adrenal cortex adenoma|adrenal cortical adenoma|benign adrenal adenoma|benign adrenal gland adenoma|cortical cell adenoma|adenoma of the adrenal cortex|adenoma of the adrenal gland|benign adenoma of adrenal gland|adrenocortical adenoma|adrenal adenoma|benign adenoma of the adrenal gland|adrenal incidentaloma ICDO:8370/0|HP:0008196|GARD:0005745|ONCOTREE:ACA|NCIT:C9003|DOID:656|DOID:0050891|EFO:0003104|SCTID:302826002|HP:0008256|UMLS:C0206667|Orphanet:99888|MESH:D018246 MONDO:0005248 owl:Class UBERON:0003041 biolink:NamedThing trigeminal nerve fibers tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019225 biolink:NamedThing gluconeogenesis disorder An acquired metabolic disease that is has its basis in the disruption of gluconeogenesis. tmpaxzxjjyw_mondo_relaxed.owl inborn error of gluconeogenesis|inborn gluconeogenesis disorder|rare inborn error of gluconeogenesis Orphanet:79177|UMLS:CN227592|ICD10:E74.4 owl:Class UBERON:0006061 biolink:NamedThing process of vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5144 biolink:NamedThing HPCA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015537 biolink:NamedThing necrobiotic xanthogranuloma A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated erythrocyte sedimentation rate; leukopenia; and monoclonal gammopathy (IgG-kappa type) and systemic involvement. tmpaxzxjjyw_mondo_relaxed.owl NXG Orphanet:158011|ICD9:709.8|GARD:0010951|EFO:1001376|ICD10:D76.3|UMLS:C1275339|SCTID:404164003|MESH:D058252 https://rarediseases.info.nih.gov/diseases/10951/necrobiotic-xanthogranuloma owl:Class CHEBI:58945 biolink:NamedThing organophosphate oxoanion An organic phosphoric acid derivative in which one or more oxygen atoms of the phosphate group(s) has been deprotonated. tmpaxzxjjyw_mondo_relaxed.owl organophosphate oxoanions owl:Class MONDO:0032836 biolink:NamedThing weiss-kruszka syndrome tmpaxzxjjyw_mondo_relaxed.owl WSKA|WEISS-KRUSZKA SYNDROME|weiss-kruszka syndrome OMIM:618619 owl:Class NCBITaxon:6936 biolink:NamedThing Argasidae tmpaxzxjjyw_mondo_relaxed.owl soft ticks|softbacked ticks GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044345 biolink:NamedThing Schistosoma mansoni infectious disease An infection that is caused by Schistosoma mansoni. tmpaxzxjjyw_mondo_relaxed.owl Schistosoma mansoni caused disease or disorder|Schistosoma mansoni disease or disorder|Schistosoma mansoni infection SCTID:750009|NCIT:C35002|MESH:D012555 owl:Class GO:0016769 biolink:NamedThing transferase activity, transferring nitrogenous groups Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor). tmpaxzxjjyw_mondo_relaxed.owl transferase activity, transferring other nitrogenous groups owl:Class MONDO:0005915 biolink:NamedThing pityriasis versicolor A yeast infection usually manifested as a superficial skin infection. It may also present as a systemic infection in patients who are receiving total parenteral nutrition. tmpaxzxjjyw_mondo_relaxed.owl infection by Pityrosporum furfur|tinea versicolor|Malassezia furfur infection|infections, Malassezia furfur|tinea flava ICD10:B36.0|DOID:9060|UMLS:C0040262|NCIT:C82981|SCTID:56454009|EFO:0007439|MESH:D014010|ICD9:111.0 owl:Class MONDO:0011288 biolink:NamedThing spastic paraplegia, optic atrophy, microcephaly, and 10Y sex reversal tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia, optic atrophy, microcephaly, and XY SEX reversal MESH:C566409|OMIM:603117|UMLS:C1864185 owl:Class MONDO:0000440 biolink:NamedThing metabolic acidosis tmpaxzxjjyw_mondo_relaxed.owl SCTID:59455009|DOID:0050758 owl:Class MONDO:0000888 biolink:NamedThing gastrointestinal mucositis Inflammation of the mucous membranes lining the gastrointestinal tract. tmpaxzxjjyw_mondo_relaxed.owl mucositis|gastrointestinal system mucosaitis|gastrointestinal system mucosa inflammation|inflammation of gastrointestinal system mucosa ICD9:558.9|MESH:D052016|UMLS:C0521585|ICD9:538|NCIT:C3853|DOID:0080178|SCTID:95518006 owl:Class MONDO:0002246 biolink:NamedThing perichondritis of auricle An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. tmpaxzxjjyw_mondo_relaxed.owl perichondritis of pinna, unspecified|perichondritis and chondritis of pinna|perichondritis of pinna DOID:222|ICD10:H61.009|ICD9:380.0|ICD10:H61.0|UMLS:C0155389|SCTID:34129005|ICD10:H61.00|ICD9:380.00 owl:Class MONDO:0011322 biolink:NamedThing Oroacral syndrome, Verloes-Koulischer type tmpaxzxjjyw_mondo_relaxed.owl Oroacral syndrome, Verloes-Koulischer type UMLS:C1863879|MESH:C566374|OMIM:603446 owl:Class UBERON:0013479 biolink:NamedThing lung endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000135 biolink:NamedThing exposure to organic compound An exposure to organic molecular entity. tmpaxzxjjyw_mondo_relaxed.owl exposure to organic molecular entity owl:Class CHEBI:48378 biolink:NamedThing carboximidic acid tmpaxzxjjyw_mondo_relaxed.owl carboximidic acid|carboximidic acids owl:Class MONDO:0017072 biolink:NamedThing lumbosacral spina bifida cystica tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268758 owl:Class NCBITaxon:2559587 biolink:NamedThing Riboviria tmpaxzxjjyw_mondo_relaxed.owl RNA viruses|RNA viruses and viroids GC_ID:1 ncbi_taxonomy owl:Class HGNC:1983 biolink:NamedThing UTP4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032228 biolink:NamedThing regulation of synaptic transmission, GABAergic Any process that modulates the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001212 biolink:NamedThing non-suppurative otitis media A otitis media which involves transudation of fluid in the middle ear without pus formation. tmpaxzxjjyw_mondo_relaxed.owl nonsuppurative otitis media UMLS:C0271446|ICD10:H65|ICD10:H65.90|SCTID:275481002|ICD10:H65.9|ICD9:381.4|DOID:11180 owl:Class MONDO:0009274 biolink:NamedThing ghosal hematodiaphyseal dysplasia Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. tmpaxzxjjyw_mondo_relaxed.owl Ghosal syndrome|GHOSAL hematodiaphyseal dysplasia|diaphyseal dysplasia-anemia syndrome|Ghosal hematodiaphyseal dysplasia syndrome|GHDD|ghosal hematodiaphyseal dysplasia GARD:0010297|ICD9:756.59|SCTID:389214003|Orphanet:1802|MESH:C565551|OMIM:231095 https://rarediseases.info.nih.gov/diseases/10297/ghosal-hematodiaphyseal-dysplasia-syndrome owl:Class HGNC:19 biolink:NamedThing AANAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003682 biolink:NamedThing localized chondrosarcoma A non-disseminated skeletal or extraskeletal chondrosarcoma. tmpaxzxjjyw_mondo_relaxed.owl localized chondrosarcoma|chondrosarcoma, localized UMLS:C0855011|DOID:5862|NCIT:C8778 owl:Class MONDO:0030934 biolink:NamedThing intellectual developmental disorder, autosomal dominant 64 tmpaxzxjjyw_mondo_relaxed.owl MRD64|intellectual developmental disorder, autosomal dominant 64|mental retardation, autosomal dominant 64 OMIM:619188 owl:Class MONDO:0017676 biolink:NamedThing marginal papular palmoplantar keratoderma tmpaxzxjjyw_mondo_relaxed.owl marginal papular palmoplantar hyperkeratosis Orphanet:307995|ICD10:Q82.8 owl:Class MONDO:0043237 biolink:NamedThing glossodynia Painful sensations in the tongue, including a sensation of burning. tmpaxzxjjyw_mondo_relaxed.owl Glossalgias|painful tongue|glossodynia|Glossodynias|Glossopyroses|glossalgia|glossopyrosis|soreness of tongue MESH:D005926|SCTID:30731004|GARD:0006518 owl:Class MONDO:0023286 biolink:NamedThing graphite pneumoconiosis tmpaxzxjjyw_mondo_relaxed.owl graphite fibrosis of lung|carbon pneumoconiosis|graphite fibrosis|graphite lung disease|graphite pneumoconiosis|graphitosis SCTID:17385007|GARD:0008359|ICD9:503|UMLS:C0264439 https://rarediseases.info.nih.gov/diseases/8359/graphite-pneumoconiosis owl:Class MONDO:0037746 biolink:NamedThing malignant vaginal mixed epithelial and mesenchymal neoplasm A malignant neoplasm that arises from the vagina and is characterized by the presence of an epithelial and a mesenchymal component. This category includes adenosarcoma, carcinosarcoma, and malignant mixed tumor resembling synovial sarcoma. tmpaxzxjjyw_mondo_relaxed.owl malignant vaginal mixed epithelial and mesenchymal tumor|malignant vaginal mixed epithelial and mesenchymal neoplasm NCIT:C40276|UMLS:C1512974 owl:Class NCBITaxon:81852 biolink:NamedThing Enterococcaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:186826 biolink:NamedThing Lactobacillales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0007028 biolink:NamedThing rotator cuff syndrome Tear of one or more of the tendons of the four rotator cuff muscles of the shoulder. A rotator cuff 'injury' can include any type of irritation or overuse of those muscles or tendons, and is among the most common conditions affecting the shoulder. tmpaxzxjjyw_mondo_relaxed.owl rotator cuff tear SCTID:4106009|ICD10:M75.1|https://en.wikipedia.org/wiki/Rotator_cuff_tear|ICD9:726.10|EFO:1001250|UMLS:C0263912 owl:Class UBERON:0004812 biolink:NamedThing male prepuce epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014251 biolink:NamedThing melioidosis, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl susceptibility to melioidosis|melioidosis, resistance to|melioidosis, susceptibility to OMIM:615557|Orphanet:31202 owl:Class NCBITaxon:2720871 biolink:NamedThing Aspergillus subgen. Circumdati tmpaxzxjjyw_mondo_relaxed.owl PMID:28082760|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5052 biolink:NamedThing Aspergillus tmpaxzxjjyw_mondo_relaxed.owl Petromyces|Phialosimplex|Chaetosartorya|Polypaecilum PMID:20141373|GC_ID:1|PMID:28082760 NCBITaxon:37503|NCBITaxon:1131475|NCBITaxon:36632|NCBITaxon:743109|NCBITaxon:36634 ncbi_taxonomy owl:Class NCBITaxon:11080 biolink:NamedThing Saint Louis encephalitis virus tmpaxzxjjyw_mondo_relaxed.owl St. Louis encephalitis virus GC_ID:1 NCBITaxon:64321 ncbi_taxonomy owl:Class FOODON:00001053 biolink:NamedThing fermented dairy food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001258 biolink:NamedThing food (fermented) tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:632 biolink:NamedThing Yersinia pestis tmpaxzxjjyw_mondo_relaxed.owl Yersinia pseudotuberculosis subsp. pestis|Bacterium pestis|Pasteurella pestis|Pestisella pestis|Bacillus pestis PMID:15084509|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0013641 biolink:NamedThing Warburg micro syndrome 2 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene. tmpaxzxjjyw_mondo_relaxed.owl WARBM2|Warburg micro syndrome caused by mutation in RAB3GAP2|RAB3GAP2 Warburg micro syndrome|micro syndrome 2|Warburg micro syndrome type 2|WARBURG micro syndrome 2|Warburg micro syndrome 2 OMIM:614225|Orphanet:2510|ICD10:Q87.0|DOID:0110717|UMLS:C3280214 owl:Class MONDO:0016649 biolink:NamedThing Warburg micro syndrome Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism. tmpaxzxjjyw_mondo_relaxed.owl microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy and hypogenitalism|microcephaly, microcornea, congenital cataract, intellectual disability, optic atrophy and hypogenitalism|WARBM|Warburg-Sjo-Fledelius syndrome|Warburg micro syndrome|micro syndrome OMIM:600118|GARD:0005534|OMIM:614225|OMIM:614222|OMIM:615663|Orphanet:2510|OMIMPS:600118|DOID:0060237|ICD10:Q87.0|UMLS:CN158709 owl:Class MONDO:0014067 biolink:NamedThing short ulna-dysmorphism-hypotonia-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl MRT35|intellectual disability, autosomal recessive 35|mental retardation, autosomal recessive 35 OMIM:615162|UMLS:C3554609|ICD10:Q87.8|Orphanet:357175 owl:Class MONDO:0002848 biolink:NamedThing skeletal muscle neoplasm A benign or malignant mesenchymal neoplasm arising from skeletal muscle. tmpaxzxjjyw_mondo_relaxed.owl skeletal muscle neoplasm|skeletal muscle tissue neoplasm (disease)|skeletal muscle tissue tumor|tumor of skeletal muscle|skeletal muscle tissue neoplasm|tumor of skeletal muscle tissue|neoplasm of the skeletal muscle|tumor of the skeletal muscle|neoplasm of skeletal muscle tissue|neoplasm of skeletal muscle|skeletal muscle tumor DOID:4044|UMLS:C1335971|ICD9:239.2|NCIT:C6514|SCTID:699955004 owl:Class MONDO:0020320 biolink:NamedThing acute myeloblastic leukemia with maturation An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl FAB M2|acute myeloblastic leukemia type 2|M2 acute granulocytic leukemia|AML M2|M2 acute myeloid leukemia|M2 acute myelogenous leukemia with maturation|AML with maturation|acute myeloid leukemia with maturation|M2 acute myeloid leukemia with maturation|M2 acute myeloblastic leukemia|acute myelogenous leukemia with maturation|M2 acute myelogenous leukemia|acute myelocytic leukemia with maturation|LAM M2|acute myeloblastic leukemia M2|acute myeloid leukemia (AML-M2)|acute M2 myeloid leukemia|M2 acute myeloblastic leukemia with maturation|AM|M2 acute myelocytic leukemia with maturation Orphanet:98834|ONCOTREE:AM|ICDO:9874/3|NCIT:C3250|ICD10:C92.0|GARD:0000527|EFO:0003028 https://rarediseases.info.nih.gov/diseases/527/acute-myeloblastic-leukemia-with-maturation owl:Class MONDO:0007672 biolink:NamedThing glomuvenous malformation Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin. tmpaxzxjjyw_mondo_relaxed.owl multiple glomus tumors|GLOMUVENOUS malformations|GVM|hereditary glomangioma|Venous malformations with glomus cells|familial glomangioma|hereditary multiple glomangiomas|glomangiomas, multiple|glomangiomatosis|glomus tumors, multiple|VMGLOM|glomuvenous malformation OMIM:138000|UMLS:C1841984|UMLS:C1333987|DOID:7996|MedDRA:10018381|NCIT:C5350|SCTID:715644000|ICD10:Q27.8|MESH:C536827|Orphanet:83454 owl:Class UBERON:0005375 biolink:NamedThing spinal cord ventral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016550 biolink:NamedThing spinal cord column tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007288 biolink:NamedThing sperm axoneme assembly The assembly and organization of the sperm flagellar axoneme, the bundle of microtubules and associated proteins that forms the core of the eukaryotic sperm flagellum, and is responsible for movement. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001125 biolink:NamedThing serratus ventralis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003277 biolink:NamedThing malignant ear neoplasm A malignant neoplasm that affects the ear. Representative examples include ceruminous adenocarcinoma and squamous cell carcinoma of the external ear and adenocarcinoma of the middle ear. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of Ear|malignant tumor of ear|malignant neoplasm of ear|malignant tumor of the Ear|malignant ear neoplasm|auricular cancer|malignant neoplasm of the Ear|ear cancer|malignant Ear tumor|malignant Ear neoplasm|malignant neoplasm of Ear|cancer of ear NCIT:C9337|SCTID:443648003|UMLS:C0751094|DOID:5101|MESH:D004428 owl:Class GO:0009145 biolink:NamedThing purine nucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine nucleoside triphosphate anabolism|purine nucleoside triphosphate synthesis|purine nucleoside triphosphate biosynthesis|purine nucleoside triphosphate formation owl:Class GO:0009142 biolink:NamedThing nucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl nucleoside triphosphate synthesis|nucleoside triphosphate biosynthesis|nucleoside triphosphate formation|nucleoside triphosphate anabolism owl:Class HGNC:11764 biolink:NamedThing TG tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0061370 biolink:NamedThing testosterone biosynthetic process The chemical reactions and pathways resulting in the formation of testosterone, an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4 C-5. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005382 biolink:NamedThing bone Paget disease A disease of bone that initially results in the excessive resorption of bone (by osteoclasts) followed by the replacement of normal bone marrow with vascular and fibrous tissue. tmpaxzxjjyw_mondo_relaxed.owl familial Paget's disease of bone|bone Paget disease|osteitis deformans|Paget disease of bone|osseous Paget's disease|bone Paget's disease|Paget's bone disease|Paget's disease|Paget's disease of bone|Paget's disease of the bone|Pagets disease (bone) NCIT:C3292|SCTID:2089002|UMLS:C0029401|OMIM:167250|OMIM:602080|OMIM:606263|ICD10:M88|EFO:0004261|DOID:5408|OMIMPS:167250|Orphanet:280110 owl:Class MONDO:0002185 biolink:NamedThing hyperostosis Excessive thickening of bone. tmpaxzxjjyw_mondo_relaxed.owl bone hypertrophy|hypertrophy of bone|hypertrophy of bone (morphologic abnormality) ICD9:733.99|MESH:D015576|NCIT:C34712|UMLS:C0020492|ICD10:M89.30|ICD10:M89.3|SCTID:203514008|DOID:205 owl:Class MONDO:0006058 biolink:NamedThing Wilms tumor An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. tmpaxzxjjyw_mondo_relaxed.owl Wilms tumor (nephroblastoma)|Wilms tumor|Wilms' tumor EFO:1000056|UMLS:CN244940|MESH:D009396|NCIT:C3267|GARD:0007892 owl:Class MONDO:0019114 biolink:NamedThing psychogenic movement disorders Psychogenic movement disorders (PMD) are movement disorders that cannot be attributed to any known structural or neurochemical diseases, but represent the manifestation of an underlying psychiatric illness or malingering. Most cases of PMD fall in the psychiatric diagnostic category of conversion disorders of the motor subtype. tmpaxzxjjyw_mondo_relaxed.owl psychogenic dystonia Orphanet:71519|MedDRA:10072376|ICD10:F44.4|UMLS:C3267131 owl:Class MONDO:0018449 biolink:NamedThing acquired cystic disease-associated renal cell carcinoma Acquired cystic disease-associated renal cell carcinoma is a rare subtype of renal cell carcinoma, ocurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. tmpaxzxjjyw_mondo_relaxed.owl ICD10:C64|UMLS:CN226194|Orphanet:404514 owl:Class HGNC:12933 biolink:NamedThing ZNF148 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014701 biolink:NamedThing spondyloepiphyseal dysplasia, Stanescu type tmpaxzxjjyw_mondo_relaxed.owl SEDSTN|SED, Stanescu type|spondyloepiphyseal dysplasia, Stanescu type ICD10:Q77.7|OMIM:616583|UMLS:C4225273|Orphanet:459051 owl:Class UBERON:0005048 biolink:NamedThing mucosa of uterine tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018872 biolink:NamedThing acute megakaryoblastic leukemia Acute megakaryoblastic leukemia (AMKL) is a form of acute myeloid leukemia (AML) that occurs predominantly in childhood and particularly in children with Down syndrome (DS-AMKL). Nonspecific symptoms may be irritability, weakness, and dizziness while specific symptoms include pallor, fever, mucocutaneous bleeding, hepatosplenomegaly, neurological manifestations and rarely lymphadenopathy. Acute panmyelosis with myelofibrosis may also be associated with AMKL. In contrast to DS-AMKL (around 80 % survival), non-DS-AMKL is an AML subgroup associated with poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl leukemia, megakaryocytic, malignant|acute myeloid leukemia M7|megakaryocytic myelosis|acute megakaryoblastic leukemia|acute megakaryocytic leukemia|FAB M7|acute megakaryoblastic leukaemia, FAB M7|acute megakaryoblastic leukemia, FAB M7|AMKL|megakaryocytic leukemia|acute megakaryoblastic leukemia (FAB type M7)|acute myeloblastic leukemia type 7|acute megakaryocytic leukemias|acute megakaryoblastic leukaemia|acute M7 myeloid leukemia|AML M7|thrombocytic leukaemia MedDRA:C0023462|NCIT:C3170|UMLS:C0023462|Wikipedia:Acute_megakaryoblastic_leukemia|SCTID:277602003|MESH:D007947|ICD10:C94.20|ICDO:9910/3|ICD10:C94.2|DOID:8761|ICD9:207.2|EFO:0003025|Orphanet:518|ONCOTREE:AMKL|GARD:0000524 https://rarediseases.info.nih.gov/diseases/524/acute-megakaryoblastic-leukemia owl:Class MONDO:0009609 biolink:NamedThing methylcobalamin deficiency type cblG Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine. tmpaxzxjjyw_mondo_relaxed.owl methylmalonic aciduria and homocystinuria type cblG|methylcobalamin deficiency type cblG|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblG complementation type|homocystinuria-megaloblastic anemia, cblG complementation type|cblG|HMAG|methionine synthase deficiency|methylcobalamin deficiency Cbl G type|methylcobalamin deficiency, cblG type|homocystinuria due to defect in methylation Cbl g|functional methionine synthase deficiency type cblG Orphanet:2170|GARD:0003577|ICD10:E72.1|DOID:0050733|GARD:0002733|SCTID:721187005|Orphanet:622|EFO:0005597|OMIM:250940 https://rarediseases.info.nih.gov/diseases/3577/methylcobalamin-deficiency-cbl-g-type owl:Class MONDO:0018964 biolink:NamedThing homocystinuria without methylmalonic aciduria Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). tmpaxzxjjyw_mondo_relaxed.owl homocystinuria without methylmalonic aciduria|functional methionine synthase deficiency|methylcobalamin deficiency OMIM:236270|SCTID:721225009|Orphanet:622|UMLS:C4303479|ICD10:E72.1|OMIM:277410|OMIM:250940 owl:Class MONDO:0015933 biolink:NamedThing non-syndromic urogenital tract malformation of male A non-syndromic urogenital tract malformation that involves the male organism. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic urogenital tract malformation of male organism|male organism non-syndromic urogenital tract malformation|nonsyndromic urogenital tract malformation of male|isolated urogenital tract malformation of male Orphanet:182121 owl:Class UBERON:0035839 biolink:NamedThing esophagogastric junction submucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001754 biolink:NamedThing eclampsia A potentially life-threatening pregnancy-related disorder characterized by tonic-clonic seizures in association with hypertension after the twentieth week of gestation and up to six weeks postpartum and in the absence of other potential causes of seizures. tmpaxzxjjyw_mondo_relaxed.owl eclampsia in puerperium|eclampsia, postpartum|postpartum eclampsia ICD9:642.64|UMLS:C0156678|ICD10:O15|DOID:13593|NCIT:C87167|GARD:0006316|SCTID:303063000|UMLS:C0013537|MESH:D004461|ICD10:O15.9 https://rarediseases.info.nih.gov/diseases/6316/eclampsia owl:Class MONDO:0045048 biolink:NamedThing toxemia of pregnancy A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. tmpaxzxjjyw_mondo_relaxed.owl toxemia of pregnancy NCIT:C34943 owl:Class MONDO:0003066 biolink:NamedThing submandibular adenitis Inflammation of the submandibular lymph nodes. tmpaxzxjjyw_mondo_relaxed.owl submandibular gland lymphadenitis (disease)|submandibular lymphadenitis|lymphadenitis (disease) of submandibular gland UMLS:C0235591|SCTID:15170009|DOID:4636|NCIT:C27016 owl:Class MONDO:0017315 biolink:NamedThing short stature-webbed neck-heart disease syndrome Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents. tmpaxzxjjyw_mondo_relaxed.owl short stature, webbed neck, heart disease|Al Gazali Aziz Salem syndrome|Al Gazali-Aziz-Salem syndrome|short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease UMLS:C2930950|GARD:0000583|MESH:C535613|ICD10:Q87.8|SCTID:721073008|Orphanet:2865 owl:Class MONDO:0008177 biolink:NamedThing extramammary Paget disease A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva. tmpaxzxjjyw_mondo_relaxed.owl EMPD|Paget's disease of skin|Paget's skin disease|Paget disease Extramammary|Paget disease, EXTRAMAMMARY|cutaneous Paget's disease|Extramammary Paget's disease|extramammary Paget disease|Paget's disease of the skin ICDO:8542/3|GARD:0004192|Orphanet:2800|MESH:D010145|ONCOTREE:EMPD|UMLS:C0030186|EFO:1000249|OMIM:167300|MedDRA:10033366|NCIT:C3302|ICD10:C44.5|MedDRA:10068223 owl:Class HGNC:24039 biolink:NamedThing CLMP tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019200 biolink:NamedThing carbohydrate kinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a carbohydrate substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001575 biolink:NamedThing extrinsic muscle of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015875 biolink:NamedThing heel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005445 biolink:NamedThing segment of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015412 biolink:NamedThing median facial cleft tmpaxzxjjyw_mondo_relaxed.owl Tessier number 0-14 and 30 facial cleft|Midline facial cleft ICD10:Q18.8|Orphanet:141234 owl:Class HGNC:17198 biolink:NamedThing CHSY1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011215 biolink:NamedThing osteocraniostenosis Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization. tmpaxzxjjyw_mondo_relaxed.owl osteocraniostenosis|Habrodysplasia|skeletal dysplasia, lethal, with gracile bones|GCLEB|gracile bone dysplasia|Osteocraniosplenic syndrome|skeletal dysplasia lethal with gracile bones Orphanet:2763|UMLS:C1865639|MESH:C537291|SCTID:722109008|ICD10:Q78.0|GARD:0003396|OMIM:602361 owl:Class MONDO:0025417 biolink:NamedThing fowlpox A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts. tmpaxzxjjyw_mondo_relaxed.owl epithelioma contagiosum|diphtheria, fowl|Diphtherias, fowl|pox, Bird|pox, fowl|fowl pox|Bird pox|Variola avium|Birdpox|fowl diphtheria|fowl Diphtherias MESH:D005586 owl:Class MONDO:0019794 biolink:NamedThing autosomal dominant cerebellar ataxia type IV tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant cerebellar ataxia type 4|ADCA4|ADCAIV|autosomal dominant cerebellar ataxia type IV ICD10:G11.8|UMLS:CN229225|Orphanet:94149 owl:Class HGNC:3025 biolink:NamedThing DRD4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006079 biolink:NamedThing ameloblastic carcinoma A rare, cytologically malignant ameloblastoma that may metastasize. tmpaxzxjjyw_mondo_relaxed.owl odontoma, ameloblastic, malignant|ameloblastic carcinoma ICD10:C41.1|UMLS:C1314678|GARD:0011855|Orphanet:314422|NCIT:C7492|EFO:1000078 https://rarediseases.info.nih.gov/diseases/11855/ameloblastic-carcinoma owl:Class MONDO:0008251 biolink:NamedThing familial pityriasis rubra pilaris A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists. tmpaxzxjjyw_mondo_relaxed.owl Devergie's disease|pityriasis rubra pilaris|pityriasis rubra pilaris--familial type|hereditary pityriasis rubra pilaris|PRP MESH:D010916|ICD9:696.4|MESH:C531784|GARD:0007401|OMIM:173200|MedDRA:10035116|ICD10:L44.0|DOID:9212|UMLS:C0032027|Orphanet:2897|UMLS:C2930842|NCIT:C85014|SCTID:3755001 https://github.com/monarch-initiative/mondo/issues/3470 owl:Class MONDO:0004919 biolink:NamedThing infected hydrocele tmpaxzxjjyw_mondo_relaxed.owl SCTID:11666007|UMLS:C0156300|ICD9:603.1|ICD10:N43.1|DOID:9911 owl:Class OBI:0100051 biolink:NamedThing specimen A material entity that has the specimen role. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018257 biolink:NamedThing familial syringomyelia An instance of syringomyelia that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary syringomyelia ICD10:Q06.4|Orphanet:370034|UMLS:CN204832 owl:Class ENVO:01000216 biolink:NamedThing montane shrubland biome A montane shrubland biome is a shrubland biome which occurs in regions elevated above sea level and which has community structure determined by elevation-dependent environmental conditions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009444 biolink:NamedThing ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. tmpaxzxjjyw_mondo_relaxed.owl ichthyosis with alopecia, eclabium, ectropion, and intellectual disability|ichthyosis alopecia eclabion ectropion mental retardation|ichthyosis with alopecia, eclabium, ectropion, and mental retardation|ichthyosis alopecia eclabion ectropion intellectual disability|Jagell Holmgren Hofer syndrome|Jagell-Holmgren-Hofer syndrome UMLS:C1855788|GARD:0000292|OMIM:242510|MESH:C537364|Orphanet:2269 owl:Class MONDO:0017272 biolink:NamedThing autosomal ichthyosis syndrome with prominent neurologics signs tmpaxzxjjyw_mondo_relaxed.owl autosomal ichthyosis syndrome with prominent neurologic signs 2022-03-01 UMLS:CN202793|Orphanet:281238 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited ichthyosis' MONDO_0015947 owl:Class MONDO:0032816 biolink:NamedThing neurodevelopmental disorder with ataxia, hypotonia, and microcephaly tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY|NEDAHM OMIM:618569 owl:Class MONDO:0037250 biolink:NamedThing childhood testicular neoplasm A neoplasm that arises from the testis during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood neoplasm of the testis|testicular tumor, childhood|neoplasm of testis of childhood|pediatric neoplasm of testis|pediatric neoplasm of the testis|childhood neoplasm of testis|childhood testicular neoplasm|pediatric testicular neoplasm NCIT:C5053 owl:Class HGNC:2076 biolink:NamedThing CLN5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001612 biolink:NamedThing carotid stenosis A narrowing of the carotid artery lumen. It is usually caused by the formation of an atherosclerotic plaque. Symptoms are usually present when there is severe narrowing or obstruction of the arterial lumen and manifest as ischemic cerebrovascular accidents. tmpaxzxjjyw_mondo_relaxed.owl carotid artery stenosis|stenosis, carotid artery SCTID:64586002|MESH:D016893|NCIT:C95804|HP:0100546|DOID:13001|UMLS:C0007282|ICD9:433.10 owl:Class MONDO:0022945 biolink:NamedThing deafness peripheral neuropathy arterial disease tmpaxzxjjyw_mondo_relaxed.owl GARD:0001701 https://rarediseases.info.nih.gov/diseases/1701/deafness-peripheral-neuropathy-arterial-disease owl:Class MONDO:0009358 biolink:NamedThing Hutterite cerebroosteonephrodysplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl cerebroosteonephosis syndrome|cond|Hutterite cerebroosteonephrodysplasia syndrome UMLS:C1856054|MESH:C536074|OMIM:236450|GARD:0009956 https://rarediseases.info.nih.gov/diseases/9956/hutterite-cerebroosteonephrodysplasia-syndrome owl:Class MONDO:0004287 biolink:NamedThing pancreatic foamy gland adenocarcinoma A pancreatic ductal adenocarcinoma characterized by the presence of adenocarcinoma cells with foamy cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl pancreatic foamy gland adenocarcinoma UMLS:C1335303|DOID:7577|NCIT:C37256 owl:Class MONDO:0006412 biolink:NamedThing sinus histiocytosis with massive lymphadenopathy A rare disorder of unknown etiology characterized by distention of the lymph node sinuses and sinusoidal histiocytic infiltration. The histiocytes characteristically contain ingested lymphocytes. Patients present with cervical lymphadenopathy, fever, leukocytosis, and hypergammaglobulinemia. It can affect extranodal sites, including skin, bones, and the respiratory tract. It usually regresses spontaneously. tmpaxzxjjyw_mondo_relaxed.owl RDD|Rosai-Dorfman disease EFO:1000528|GARD:0007588|ICD9:277.89|MESH:D015618|SCTID:34287003|NCIT:C36075 owl:Class MONDO:0017920 biolink:NamedThing deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). tmpaxzxjjyw_mondo_relaxed.owl sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5|short stature, intellectual disability and multiple dysmorphisms|Pfeiffer-Kapferer syndrome|short stature, mental retardation and multiple dysmorphisms|Pfeiffer Kapferer syndrome ICD10:Q87.8|SCTID:721086004|UMLS:C2931654|GARD:0004303|Orphanet:3224|MESH:C537887 owl:Class MONDO:0005574 biolink:NamedThing tauopathy Neurodegenerative disorders involving deposition of abnormal tau protein isoforms (tau proteins) in neurons and glial cells in the brain. Pathological aggregations of tau proteins are associated with mutation of the tau gene on chromosome 17 in patients with alzheimer disease; dementia; parkinsonian disorders; progressive supranuclear palsy (supranuclear palsy, progressive); and corticobasal degeneration. tmpaxzxjjyw_mondo_relaxed.owl MESH:D024801|EFO:0005815|UMLS:C0949664|DOID:680 owl:Class MONDO:0056797 biolink:NamedThing neurodevelopmental disorder with midbrain and hindbrain malformations tmpaxzxjjyw_mondo_relaxed.owl NEDMHM|neurodevelopmental disorder with midbrain and hindbrain malformations OMIM:617523|DOID:0080312|UMLS:C4479613 owl:Class MONDO:0018571 biolink:NamedThing contractures-developmental delay-Pierre Robin syndrome tmpaxzxjjyw_mondo_relaxed.owl 5q23 microdeletion syndrome Orphanet:436003|UMLS:CN237584|ICD10:Q87.0 owl:Class MONDO:0008854 biolink:NamedThing Bardet-Biedl syndrome 1 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS1 gene on chromosome 11q13. tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome type 1|Bardet-Biedl syndrome 1|BBS1 UMLS:C1859568|UMLS:C3714980|Orphanet:110|UMLS:C2673874|UMLS:C1859569|UMLS:C1859565|ICD10:Q87.89|DOID:0110123|UMLS:C2936862|EFO:0009021|UMLS:C1859566|MESH:C537909|OMIM:209900|UMLS:C3806174|UMLS:C1859567|UMLS:C3150127|UMLS:C1858054|UMLS:C0752166|UMLS:C1859564|GARD:0000820|UMLS:C1859570|UMLS:C2673873 owl:Class MONDO:0017189 biolink:NamedThing adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia Diazoxide-resistant hyperinsulism (DRH) is form of congenital isolated hyperinsulinism caused by an abnormal insulin production by b-cells in the pancreas that can be diffuse or focal and is characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide tmpaxzxjjyw_mondo_relaxed.owl NI-PHH SCTID:717044000|UMLS:C4274082|ICD10:E16.1|Orphanet:276608 owl:Class MONDO:0017182 biolink:NamedThing familial hyperinsulinism An instance of hyperinsulinism (disease) that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl FHI|hyperinsulinemia of infancy|hereditary hyperinsulinism (disease)|hyperinsulinemic hypoglycemia|HHI|Nesidioblastosis|congenital hyperinsulinism|Neonatal hyperinsulinism|familial hyperinsulinemic hypoglycemia Orphanet:276525|NCIT:C131425|ICD10:E16.1 owl:Class MONDO:0009284 biolink:NamedThing glutathione synthetase deficiency without 5-oxoprolinuria tmpaxzxjjyw_mondo_relaxed.owl GSSDE|glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to UMLS:C1856399|Orphanet:32|MESH:C565545|ICD10:D55.1|OMIM:231900|Orphanet:289849 owl:Class MONDO:0017909 biolink:NamedThing inherited glutathione synthetase deficiency Glutathione synthetase deficiency is characterised by hemolytic anemia, associated with metabolic acidosis and 5-oxoprolinuria in moderate forms, and with progressive neurological symptoms and recurrent bacterial infections in the most severe forms. tmpaxzxjjyw_mondo_relaxed.owl inborn glutathione synthase activity disorder|5-oxoprolinuria|rare inborn error of glutathione synthase activity|inherited glutathione synthetase deficiency|pyroglutamic aciduria|inborn error of glutathione synthase activity|glutathione synthetase deficiency|pyroglutamicaciduria|oxoprolinase deficiency|GSSD GARD:0010047|MESH:C536835|Orphanet:32|OMIM:266130|NCIT:C128193|UMLS:C0398746|ICD10:D55.1|OMIM:231900|SCTID:234589002 owl:Class MONDO:0015580 biolink:NamedThing distal monosomy 7q36 Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported. tmpaxzxjjyw_mondo_relaxed.owl telomeric deletion 7q36|distal monosomy type 7q36|monosomy 7qter|distal deletion 7q36 ICD10:Q93.5|Orphanet:1636|SCTID:763529005 owl:Class PATO:0002124 biolink:NamedThing laminar A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020456 biolink:NamedThing pleuro-pericardial cyst Pleuro-pericardial cyst is a rare, mostly congenital, pericardium anomaly characterized by the presence of, usually asymptomatic, cysts which are typically located in the right costophrenic angle and are usually incidentally diagnosed. On occasion, it manifests with chest pain, dyspnea, tachycardia, persistent cough or cardiac arrhythmias. The condition is usually benign, but rare complications, such as cardiac tamponade, cardiogenic shock, mitral valve prolapse, hoarseness atrial fibrillation, right ventricular outflow, tract obstruction, spontaneous internal hemorrhage, pulmonary stenosis and sudden death, may occur. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99131|ICD10:Q24.8 owl:Class MONDO:0017300 biolink:NamedThing congenital pericardium anomaly Congenital pericardium anomaly comprises a group of rare congenital cardiac malformations characterized by the complete (Congenital complete agenesis of pericardium) or partial absence of the pericardium (Congenital partial agenesis of pericardium), or by the presence of pericardial cysts (Pleuropericardial cyst). tmpaxzxjjyw_mondo_relaxed.owl ICD9:746.89|ICD10:Q24.8|Orphanet:2846|SCTID:93018000 owl:Class HP:0002524 biolink:NamedThing Cataplexy A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. tmpaxzxjjyw_mondo_relaxed.owl MSH:D002385|UMLS:C0007384|SNOMEDCT_US:46263000 Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage. HP:0002428|HP:0002525 human_phenotype owl:Class HP:0011442 biolink:NamedThing Abnormal central motor function An anomaly of the control or production of movement in the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of central motor function UMLS:C4023354 peter 2012-03-18T02:29:04Z human_phenotype owl:Class HGNC:17264 biolink:NamedThing POLR1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003498 biolink:NamedThing Disproportionate short stature A kind of short stature in which different regions of the body are shortened to differing extents. tmpaxzxjjyw_mondo_relaxed.owl Short stature, disproportionate|Short stature, severe disproportionate UMLS:C1846797|UMLS:C0878659 HP:0008900|HP:0008895 human_phenotype owl:Class HP:0004322 biolink:NamedThing Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). tmpaxzxjjyw_mondo_relaxed.owl Decreased body height|Height less than 3rd percentile|Small stature|Short stature|Stature below 3rd percentile UMLS:C0349588|SNOMEDCT_US:237836003 peter 2008-02-27T03:19:00Z HP:0003512|HP:0008882|HP:0003507|HP:0008871|HP:0003518|HP:0008888|HP:0008913|HP:0003519|HP:0003501|HP:0001509 human_phenotype owl:Class MONDO:0100144 biolink:NamedThing Uner Tan Syndrome A tubulinopathy with material basis in TUBB2B that is characterized by variations in R390Q, quadrupedal locomotion, cerebellar hypoplasia and does not have basal ganglia malformations. tmpaxzxjjyw_mondo_relaxed.owl recessive quadrupedalism owl:Class MONDO:0017114 biolink:NamedThing global cerebellar malformation tmpaxzxjjyw_mondo_relaxed.owl diffuse cerebellar malformation ICD10:Q04.3|Orphanet:269224 owl:Class GO:0060235 biolink:NamedThing lens induction in camera-type eye Signaling at short range between the head ectoderm and the optic vesicle that results in the head ectoderm forming a lens. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011142 biolink:NamedThing axial ossicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007041 biolink:NamedThing lysosomal transport The directed movement of substances into, out of or within a lysosome. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024882 biolink:NamedThing secondary neoplasm A neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment. tmpaxzxjjyw_mondo_relaxed.owl secondary neoplasm|secondary tumor NCIT:C36255 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class MONDO:0008838 biolink:NamedThing ataxia - deafness - intellectual disability syndrome This syndrome is characterised by progressive ataxia beginning during childhood, deafness and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl ataxia, hearing loss, and intellectual disability|ataxia-hearing loss-intellectual disability syndrome|ataxia, hearing loss, and mental retardation|Reardon-Baraitser syndrome|familial ataxia, deafness, and developmental delay|Adr syndrome|ataxia-deafness-retardation syndrome|Reardon Wilson Cavanagh syndrome MESH:C535295|Orphanet:1188|SCTID:720517001|GARD:0004644|ICD10:G11.1|OMIM:208850 owl:Class MONDO:0009811 biolink:NamedThing osteoma of middle ear tmpaxzxjjyw_mondo_relaxed.owl osteoma of middle ear MESH:C564917|OMIM:259650|UMLS:C1850142 owl:Class MONDO:0003719 biolink:NamedThing renal pelvis neoplasm A neoplasm (disease) that involves the renal pelvis. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the renal pelvis|tumor of the kidney pelvis|kidney pelvis tumor|tumor of renal pelvis|kidney pelvis neoplasm|renal pelvis neoplasm|renal pelvis neoplasm (disease)|neoplasm of renal pelvis|renal pelvis tumor|neoplasm of the kidney pelvis|tumor of the renal pelvis|neoplasm of kidney pelvis|tumor of kidney pelvis DOID:5977|SCTID:126881002|UMLS:C0346260|NCIT:C8404|ICD9:239.5 owl:Class MONDO:0015872 biolink:NamedThing giant adenofibroma of the breast Giant adenofibroma of the breast is a rare, benign, fibroepithelial tumor which usually manifests as a unilateral, painless, firm, mobile, slow-growing mass in the breast that measures more than 5 cm. It can be associated with significant asymmetry and/or deformity of the breast and hormonal changes (e.g. puberty, pregnancy, oral contraceptives) can lead to its marked enlargement. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:180267|UMLS:CN200476|ICD10:D24 owl:Class GO:0001553 biolink:NamedThing luteinization The set of processes resulting in differentiation of theca and granulosa cells into luteal cells and in the formation of a corpus luteum after ovulation. tmpaxzxjjyw_mondo_relaxed.owl luteal phase owl:Class GO:0022602 biolink:NamedThing ovulation cycle process A process involved in the sexual cycle seen in females, often with physiologic changes in the endometrium that recur at regular intervals during the reproductive years. tmpaxzxjjyw_mondo_relaxed.owl estrous cycle process|menstrual cycle process owl:Class GO:0003094 biolink:NamedThing glomerular filtration The process in which plasma is filtered through the glomerular membrane which consists of capillary endothelial cells, the basement membrane, and epithelial cells. The glomerular filtrate is the same as plasma except it has no significant amount of protein. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0097205 biolink:NamedThing renal filtration A renal system process in which fluid circulating through the body is filtered through a barrier system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017649 biolink:NamedThing hemidystonia-hemiatrophy syndrome Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD. tmpaxzxjjyw_mondo_relaxed.owl HD-HA syndrome Orphanet:306741|UMLS:CN203542 owl:Class GO:0008514 biolink:NamedThing organic anion transmembrane transporter activity Enables the transfer of organic anions from one side of a membrane to the other. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007807 biolink:NamedThing hypoxanthine guanine phosphoribosyltransferase suppressor tmpaxzxjjyw_mondo_relaxed.owl hypoxanthine guanine phosphoribosyltransferase suppressor OMIM:146580 owl:Class HGNC:4284 biolink:NamedThing GJB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012112 biolink:NamedThing hypertrophic cardiomyopathy 10 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic cardiomyopathy caused by mutation in MYL2|hypertrophic cardiomyopathy 10|hypertrophic cardiomyopathy type 10|CMH10|cardiomyopathy, familial hypertrophic, type 10|cardiomyopathy, familial hypertrophic, 10|cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2|MYL2 hypertrophic cardiomyopathy DOID:0110316|MESH:C563865|UMLS:C1834460|OMIM:608758 owl:Class MONDO:0043839 biolink:NamedThing ulcer disease A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue. tmpaxzxjjyw_mondo_relaxed.owl ulcerative|ulcer|ulceration|ulcers|ulcerated UMLS:C0041582|NCIT:C3426|SCTID:429040005|MESH:D014456 owl:Class HGNC:11030 biolink:NamedThing SLC4A4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002894 biolink:NamedThing spinal chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the spine. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells. tmpaxzxjjyw_mondo_relaxed.owl chordoma of the spinal column|spinal column chordoma|spinal chordoma|chordoma of spinal column|chordoma of spine|spinal Chordomas EFO:1000543|NCIT:C5156|DOID:4153|UMLS:C1859101 owl:Class MONDO:0003718 biolink:NamedThing occlusion precerebral artery tmpaxzxjjyw_mondo_relaxed.owl occlusion and stenosis of precerebral artery|occlusion and stenosis of multiple and bilateral precerebral arteries DOID:5976|SCTID:28790007|ICD9:433|UMLS:C0265090|ICD9:433.3|ICD9:433.81|ICD9:433.80|ICD10:I65.9|ICD9:433.9 owl:Class MONDO:0006705 biolink:NamedThing Bacteroidaceae infectious disease Infections with bacteria of the family BACTEROIDACEAE. tmpaxzxjjyw_mondo_relaxed.owl Bacteroidaceae infection|infection, Bacteroidaceae|infections, Bacteroidaceae|Bacteroidaceae caused disease or disorder|Bacteroidaceae disease or disorder EFO:1000872|MESH:D016866|UMLS:C0085392 owl:Class MONDO:0001323 biolink:NamedThing infant gynecomastia Transient bilateral swelling of breast tissue in a neonate that results from the waning influence of maternal estrogen. tmpaxzxjjyw_mondo_relaxed.owl neonatal gynaecomastia|breast engorgement in newborn ICD10:P83.4|UMLS:C1449721|ICD9:778.7|MESH:D006177|SCTID:34831003|DOID:11603|NCIT:C117312 owl:Class HGNC:9277 biolink:NamedThing PPM1D tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009965 biolink:NamedThing Perlman syndrome Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome|nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor|renal hamartomas, nephroblastomatosis, and fetal gigantism|nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor|Perlman syndrome|PRLMNS|nephroblastomatosis fetal ascites macrosomia and Wilms tumor|renal hamartomas, nephroblastomatosis and fetal gigantism|nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor Orphanet:2849|SCTID:722231005|ICD10:Q87.3|UMLS:C0796113|MESH:C536399|DOID:0060476|GARD:0003936|NCIT:C103144|OMIM:267000 https://rarediseases.info.nih.gov/diseases/3936/perlman-syndrome owl:Class MONDO:0010742 biolink:NamedThing pentalogy of Cantrell Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC. tmpaxzxjjyw_mondo_relaxed.owl Cantrell Haller Ravitsch syndrome|Tas|THAS|Cantrell syndrome|thoraco-abdominal syndrome|Cantrell deformity|Cantrell pentalogy|Midline defects, X-linked|thoracoabdominal syndrome|pentalogy of Cantrell MESH:D058502|Orphanet:1335|SCTID:281587000|ICD10:Q89.7|GARD:0007359|ICD9:759.89|UMLS:C0559483|NCIT:C99011|OMIM:313850 https://rarediseases.info.nih.gov/diseases/7359/pentalogy-of-cantrell owl:Class GO:0035774 biolink:NamedThing positive regulation of insulin secretion involved in cellular response to glucose stimulus Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of insulin secretion in response to glucose owl:Class MONDO:0015898 biolink:NamedThing adrenogenital syndrome Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children. tmpaxzxjjyw_mondo_relaxed.owl androgenital syndrome|adrenogenital syndrome|congenital adrenal hyperplasia|adrenogenital disorder UMLS:C0701163|UMLS:C0302280|UMLS:CN200506|ICD9:255.2|Orphanet:181412|SCTID:267395000|MESH:D047808|MedDRA:10061630 owl:Class MONDO:0018853 biolink:NamedThing transgrediens et progrediens palmoplantar keratoderma tmpaxzxjjyw_mondo_relaxed.owl keratosis palmoplantaris transgrediens et progrediens|transgrediens et progrediens PPK|progressive diffuse palmoplantar keratoderma|progressive diffuse PPK|keratosis extremitatum hereditaria progrediens|Greither disease OMIM:133200|Orphanet:495|ICD10:Q82.8|UMLS:CN205162 owl:Class MONDO:0032795 biolink:NamedThing intellectual developmental disorder 59 tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER 59|MRD59|Mental Retardation, Autosomal Dominant 59|intellectual developmental disorder 59 OMIM:618522 owl:Class MONDO:0005168 biolink:NamedThing neoplasm of immature B and T cells A neoplasm arising from immature B and T cells tmpaxzxjjyw_mondo_relaxed.owl EFO:0002425 owl:Class HP:0010876 biolink:NamedThing Abnormal circulating protein concentration An abnormal level of a circulating protein in the blood. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of circulating protein level|Blood protein disease|Serum protein abnormality|Abnormal circulating protein level UMLS:C4020764|UMLS:C4023679|UMLS:C4020763 peter 2010-09-07T01:51:12Z human_phenotype owl:Class CL:1001318 biolink:NamedThing renal interstitial pericyte tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001104 cell owl:Class HGNC:10879 biolink:NamedThing STIL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009265 biolink:NamedThing Gaucher disease type I Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia. tmpaxzxjjyw_mondo_relaxed.owl GD I|Gaucher disease type I|Gaucher's disease type I|Gaucher disease, noncerebral juvenile|Gaucher disease, type 1|Gaucher disease, type I|Gba deficiency|non-cerebral juvenile Gaucher disease|Gaucher disease type 1|Gd 1|acid Beta-glucosidase deficiency Orphanet:355|DOID:0110957|OMIM:230800|Orphanet:77259|ICD10:E75.2|GARD:0002441 owl:Class MONDO:0000469 biolink:NamedThing sinoatrial node disorder A disease involving the sinoatrial node. tmpaxzxjjyw_mondo_relaxed.owl disease of sinoatrial node|disease or disorder of sinoatrial node|sinoatrial node disease or disorder|SA node|sinuatrial node|sinoatrial node disease|disorder of sinoatrial node DOID:0050824 owl:Class MONDO:0021534 biolink:NamedThing rectal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpaxzxjjyw_mondo_relaxed.owl rectal neuroendocrine tumor G1|carcinoid tumor of the rectum|rectum carcinoid tumor (disease)|carcinoid of the rectum|carcinoid tumor of rectum|rectal carcinoid tumor|rectum NET G1|rectal carcinoid|carcinoid of rectum|rectum carcinoid tumor|rectal NET G1|rectum neuroendocrine tumor, well differentiated, low grade|grade 1 neuroendocrine neoplasm of rectum|rectum neuroendocrine neoplasm G1 UMLS:C1335678|NCIT:C5547|SCTID:713306000 owl:Class BFO:0000030 biolink:NamedThing object tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011770 biolink:NamedThing aortic aneurysm, familial thoracic 2 tmpaxzxjjyw_mondo_relaxed.owl aortic aneurysm, familial thoracic 2|AAT2|FAA2 Orphanet:91387|OMIM:607087|MESH:C564627|UMLS:C1846837 owl:Class UBERON:0007329 biolink:NamedThing pancreatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:408 biolink:NamedThing ALDH5A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018379 biolink:NamedThing primary avascular necrosis tmpaxzxjjyw_mondo_relaxed.owl primary AVN ICD10:M87.8|Orphanet:399302 owl:Class MONDO:0013098 biolink:NamedThing noise induced hearing loss A condition in which a person loses the ability to hear due to exposure to high intensity sound. tmpaxzxjjyw_mondo_relaxed.owl NIHL|noise-induced hearing loss|hearing loss, noise-induced, susceptibility to MESH:D006317|EFO:1001254|OMIM:613035|SCTID:73415002|ICD9:388.12|NCIT:C34664 owl:Class CHEBI:23849 biolink:NamedThing diterpenoid Any terpenoid derived from a diterpene. The term includes compounds in which the C20 skeleton of the parent diterpene has been rearranged or modified by the removal of one or more skeletal atoms (generally methyl groups). tmpaxzxjjyw_mondo_relaxed.owl C20 isoprenoids|diterpenoides|diterpenoids owl:Class HGNC:3662 biolink:NamedThing FGB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016100 biolink:NamedThing rippling muscle disease with myasthenia gravis tmpaxzxjjyw_mondo_relaxed.owl acquired rippling muscle disease|Rmd-MG|immune-mediated rippling muscle disease UMLS:CN200870|ICD10:G70.8|Orphanet:206575 owl:Class MONDO:0018743 biolink:NamedThing immune-mediated acquired neuromuscular junction disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242076|Orphanet:464764 owl:Class MONDO:0000878 biolink:NamedThing cytomegalovirus retinitis Infection of the retina by cytomegalovirus characterized by retinal necrosis, hemorrhage, vessel sheathing, and retinal edema. Cytomegalovirus retinitis is a major opportunistic infection in aids patients and can cause blindness. tmpaxzxjjyw_mondo_relaxed.owl cytomegalovirus retinitis|Cytomegaloviral Retinitis|Cytomegalovirus retinitis|Cytomegalovirus caused retinitis|CMV retinitis|Retinitis, Cytomegaloviral UMLS:C0206178|SCTID:22455005|NCIT:C50521|EFO:1001302|DOID:0080160|GARD:0009531|MESH:D017726 https://rarediseases.info.nih.gov/diseases/9531/cytomegalovirus-retinitis owl:Class MONDO:0100252 biolink:NamedThing tumoral calcinosis, hyperphosphatemic, familial, 1 tmpaxzxjjyw_mondo_relaxed.owl tumoral calcinosis, primary Hyperphosphatemic|HFTC1|tumoral calcinosis, hyperphosphatemic, familial, 1|HFTC|tumoral calcinosis, Hyperphosphatemic, familial, 1|tumoral calcinosis, hyperphosphatemic, familial|Teutschlaender disease, familial|tumoral calcinosis, HYPERPHOSPHATEMIC, familial, 1|calcinosis, tumoral, with hyperphosphatemia|hyperostosis-hyperphosphatemia syndrome|Morbus Teutschlaender OMIM:211900 http://orcid.org/0000-0001-5208-3432 owl:Class CL:2000067 biolink:NamedThing cardiac atrium fibroblast Any fibroblast that is part of a cardiac atrium. tmpaxzxjjyw_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6320 TermGenie 2014-10-07T18:36:54Z cell owl:Class MONDO:0100399 biolink:NamedThing acute myeloid leukemia, t(3;3)(q21.3;q26.2) Any acute myeloid leukemia that has the chromosomal anomaly t(3;3)(q21.3;q26.2). (A cytogenetic abnormality that refers to the translocation where both breakpoints are on the long arm (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(3;3)(q21.3;q26.2)|AML, t(3;3)(q21;q26.2)|AML, t(3;3)(q26;q21)|AML, t(3;3)(q21.3q26.2) NCIT:C36406|NCIT:C122717 owl:Class UBERON:0004948 biolink:NamedThing submucosa of left main bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006302 biolink:NamedThing micropapillary serous carcinoma An adenocarcinoma characterized by the presence of complex micropapillary structures covered by round and cuboidal cells with a high nuclear to cytoplasmic ratio. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000377|NCIT:C6882 owl:Class UBERON:0006298 biolink:NamedThing submandibular gland primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0017651 biolink:NamedThing salivary gland primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:4000167 biolink:NamedThing caudal fin skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044778 biolink:NamedThing nodular lymphocyte predominant Hodgkin lymphoma A monoclonal B-cell neoplasm characterized by a nodular, or a nodular and diffuse proliferation of scattered large neoplastic cells known as popcorn or lymphocyte predominant cells (LP cells)- formerly called L&H cells for lymphocytic and/or histiocytic Reed-Sternberg cell variants. The LP cells lack CD15 and CD30 in nearly all instances. Patients are predominantly male, frequently in the 30-50 year age group. Most patients present with limited stage disease (localized peripheral lymphadenopathy, stage I or II). (WHO 2008) tmpaxzxjjyw_mondo_relaxed.owl nodular lymphocyte predominant Hodgkin's lymphoma|NLPHL|nodular lymphocyte-predominant Hodgkin lymphoma|Hodgkin lymphoma nodular lymphocyte predominant type, NOS|nodular lymphocyte predominant Hodgkin lymphoma|Hodgkin lymphoma nodular LP, NOS NCIT:C7258|ICD10:C81.0|ONCOTREE:NLPHL|Orphanet:86893|MEDGEN:233758|UMLS:C1334968 owl:Class MONDO:0004952 biolink:NamedThing Hodgkins lymphoma Hodgkin lymphoma (HL) is a heterogeneous group of malignant lymphoid neoplasms of B-cell origin characterized histologically by the presence of Hodgkin and Reed-Sternberg (HRS) cells in the vast majority of cases. There are two distinct subtypes: nodular lymphocyte predominant Hodgkin lymphoma and classical Hodgkin lymphoma. Hodgkin lymphoma involves primarily lymph nodes. tmpaxzxjjyw_mondo_relaxed.owl stage I subdiaphragmatic Hodgkin lymphoma|Hodgkin's lymphoma|Hodgkin lymphoma|Hodgkin's sarcoma|stage II subdiaphragmatic Hodgkin lymphoma|lymphoma, Hodgkin's|Hodgkins lymphoma|Hodgkin disease|HL|Hodgkin's disease ICD10:C81|NCIT:C9357|DOID:8651|NCIT:C26956|Orphanet:98293|ICD9:201|ONCOTREE:HL|MESH:D006689|ICDO:9650/3|OMIM:300221|ICD9:201.2|ICD10:C81.9|DOID:8567|OMIM:400021|EFO:0000183|SCTID:118602004|ICD9:201.0|ICD9:201.1|OMIM:236000|GARD:0002714|ICD9:201.9|ICD9:201.90|NCIT:C6914 owl:Class MONDO:0004698 biolink:NamedThing intestine carcinoma in situ A carcinoma in situ involving a intestine. tmpaxzxjjyw_mondo_relaxed.owl stage 0 intestine carcinoma|intestine in situ carcinoma|carcinoma in situ of intestine UMLS:C0685941|ICD10:D01.4|SCTID:92617001|DOID:9024|ICD9:230.7 owl:Class HGNC:17997 biolink:NamedThing FKRP tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:20041 biolink:NamedThing ZNF408 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010455 biolink:NamedThing positive regulation of cell fate commitment Any process that activates, maintains or increases the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004202 biolink:NamedThing adrenal medulla carcinoma A carcinoma that arises from epithelial cells of the adrenal medulla tmpaxzxjjyw_mondo_relaxed.owl adrenal medulla carcinoma|carcinoma of adrenal medulla DOID:7379|UMLS:C1334717|NCIT:C9276 owl:Class CL:1000327 biolink:NamedThing appendix goblet cell A goblet cell that is part of the epithelium proper of appendix. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of epithelium proper of appendix FMA:263069 cell owl:Class MONDO:0001847 biolink:NamedThing nuclear senile cataract A senile cataract that involves the lens nucleus. tmpaxzxjjyw_mondo_relaxed.owl senile cataract of lens nucleus|lens nucleus senile cataract|Senile nuclear cataract|Senile nuclear sclerosis DOID:13963|ICD9:366.16|SCTID:193589009 owl:Class MONDO:0045050 biolink:NamedThing nuclear cataract A cataract (disease) that involves the lens nucleus. tmpaxzxjjyw_mondo_relaxed.owl lens nucleus cataract (disease)|cataract (disease) of lens nucleus ICD9:366.04|SCTID:53889007|HP:0100018 owl:Class MONDO:0001630 biolink:NamedThing branch retinal artery occlusion An occlusion of a branch of the retinal artery. tmpaxzxjjyw_mondo_relaxed.owl arterial retinal branch occlusion|retinal arterial branch occlusion DOID:13094|SCTID:50821009|NCIT:C34436|ICD9:362.32|MESH:D015356|ICD10:H34.23|UMLS:C0006123 Editor note: see https://github.com/obophenotype/human-phenotype-ontology/issues/4266 owl:Class MONDO:0006948 biolink:NamedThing retinal artery occlusion An occlusion of the retinal artery. tmpaxzxjjyw_mondo_relaxed.owl MESH:D015356|EFO:1001154|UMLS:C0035302|NCIT:C34978|MedDRA:10038827|SCTID:232035005|DOID:8483 owl:Class UBERON:0005181 biolink:NamedThing thoracic segment organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0035124 biolink:NamedThing linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies tmpaxzxjjyw_mondo_relaxed.owl Orphanet:589608 owl:Class MONDO:0001157 biolink:NamedThing dependent personality disorder A disorder characterized by an enduring pattern of an extreme need to be taken care of together with fear of separation that lead the individual to urgently seek out and submit to another person and allow that person to make decisions that impact all areas of the individual's life. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92637|DOID:10931|SCTID:84466009|ICD10:F60.7|MESH:D003859|ICD9:301.6 owl:Class ENVO:00002030 biolink:NamedThing aquatic biome A biome which is determined by a water body and which has ecological climax communities adapted to life in or on water. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1902667 biolink:NamedThing regulation of axon guidance Any process that modulates the frequency, rate or extent of axon guidance. tmpaxzxjjyw_mondo_relaxed.owl regulation of axon growth cone guidance|regulation of axon chemotaxis|regulation of axon pathfinding owl:Class CL:1000490 biolink:NamedThing mesothelial cell of peritoneum A mesothelial cell that is part of the peritoneum. tmpaxzxjjyw_mondo_relaxed.owl peritoneal mesothelial cell FMA:86736 cell owl:Class HGNC:3434 biolink:NamedThing ERCC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045906 biolink:NamedThing negative regulation of vasoconstriction Any process that stops, prevents, or reduces the frequency, rate or extent of vasoconstriction. tmpaxzxjjyw_mondo_relaxed.owl inhibition of vasoconstriction|down regulation of vasoconstriction|downregulation of vasoconstriction|down-regulation of vasoconstriction owl:Class MONDO:0002625 biolink:NamedThing Ewing sarcoma of bone A small round cell bone tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It often affects the diaphysis or metaphyseal-diaphyseal portion of long bones. Clinical findings include pain and a mass in the involved area. fever, anemia, leukocytosis, and an increased sedimentation rate are often seen. X-ray examination reveals osteolytic lesions. The prognosis depends on the stage, anatomic location, and size of the tumor. tmpaxzxjjyw_mondo_relaxed.owl bone tissue Ewing sarcoma|Ewing's sarcoma, osseous|osseous Ewing's tumor|Ewing sarcoma of bone|Ewing's sarcoma of bone|skeletal Ewing's tumor|localized skeletal Ewing's sarcoma|bone Ewing sarcoma|bone localized Ewing sarcoma|bone localized Ewing's sarcoma|osseous Ewing's sarcoma|Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor|skeletal Ewing's sarcoma|bone Ewing's sarcoma UMLS:C0585474|DOID:3368|NCIT:C35871|SCTID:307608006|UMLS:C1333481|ICD9:170.9|NCIT:C4835 owl:Class MONDO:0033864 biolink:NamedThing infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:522077|OMIM:618218 owl:Class UBERON:0035505 biolink:NamedThing right inguinal part of abdomen tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001263 biolink:NamedThing pancreatic acinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016683 biolink:NamedThing gliomatosis cerebri A diffuse glial tumor which infiltrates the brain extensively, involving more than two lobes. It is frequently bilateral and often extends to the infratentorial structures, even to the spinal cord. It is probably of astrocytic origin, although GFAP expression may be scant or absent. (Adapted from WHO.) tmpaxzxjjyw_mondo_relaxed.owl gliomatosis|astrocytosis cerebri|gliomatosis cerebri|gliomatosis cerebri (morphologic abnormality) UMLS:C0334576|GARD:0006514|MedDRA:10066254|Orphanet:251582|DOID:6128|NCIT:C4318|ICD10:C71.0|ICDO:9381/3|MESH:D018302 https://rarediseases.info.nih.gov/diseases/6514/gliomatosis-cerebri owl:Class MONDO:0016680 biolink:NamedThing high grade astrocytic tumor An anaplastic astrocytoma (grade III astrocytic tumor) or glioblastoma (grade IV astrocytic tumor). tmpaxzxjjyw_mondo_relaxed.owl high-grade astrocytic neoplasm|high-grade astrocytic tumor|high grade astrocytic tumor|high grade astrocytic neoplasm|high-grade astrocytoma NCIT:C102897|UMLS:C3640999|Orphanet:251561 owl:Class GO:0030432 biolink:NamedThing peristalsis A wavelike sequence of involuntary muscular contraction and relaxation that passes along a tubelike structure, such as the intestine, impelling the contents onwards. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0072201 biolink:NamedThing negative regulation of mesenchymal cell proliferation Any process that decreases the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010464 biolink:NamedThing regulation of mesenchymal cell proliferation Any process that modulates the frequency, rate or extent of mesenchymal cell proliferation. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015355 biolink:NamedThing distal hereditary motor neuropathy type 7 Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness. tmpaxzxjjyw_mondo_relaxed.owl distal spinal muscular atrophy with vocal cord paralysis|dHMN7 ICD10:G12.2|OMIM:607641|UMLS:CN199425|Orphanet:139589|OMIM:158580|DOID:0111199 owl:Class UBERON:0001422 biolink:NamedThing facial lymphatic vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010980 biolink:NamedThing midline malformations, multiple, with limb abnormalities and hypopituitarism tmpaxzxjjyw_mondo_relaxed.owl midline malformations, multiple, with limb abnormalities and hypopituitarism|Dincsoy syndrome|Dincsoy-Salih-Patel syndrome MESH:C536177|UMLS:C1832874|Orphanet:1678|OMIM:601016 owl:Class MONDO:0018738 biolink:NamedThing benign metanephric tumour A benign neoplasm that involves the metanephros. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242075|Orphanet:464359|ICD10:D30.0 owl:Class MONDO:0000541 biolink:NamedThing jejunal adenocarcinoma A adenocarcinoma that involves the jejunum. tmpaxzxjjyw_mondo_relaxed.owl jejunal adenocarcinoma|jejunum adenocarcinoma|jejunal adenocarcinoma (disease) jejunal adenocarcinoma (disease) UMLS:C4072935|DOID:0050926|HP:0030411 owl:Class MONDO:0019218 biolink:NamedThing inborn disorder of bile acid synthesis Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis. tmpaxzxjjyw_mondo_relaxed.owl inborn errors of bile acid synthesis|inborn bile acid biosynthetic process disorder|disorder of bile acid synthesis|rare inborn error of bile acid biosynthetic process|inborn error of bile acid biosynthetic process UMLS:CN544763|GTR:AN0923838|Orphanet:79168|UMLS:CN231736 owl:Class MONDO:0007693 biolink:NamedThing hypertrichosis cubiti-short stature syndrome Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated. tmpaxzxjjyw_mondo_relaxed.owl hairy elbows syndrome|hairy elbows|hypertrichosis cubiti|MacDermot-Patton-Williams syndrome MedDRA:10068636|GARD:0000143|Orphanet:2220|ICD10:Q84.2|MESH:C535618|OMIM:139600|UMLS:C1841696 owl:Class MONDO:0015692 biolink:NamedThing refractory anemia with excess blasts in transformation Refractory anemia with excess blasts in transformation (RAEB-T) is characterised by dysplastic features of the myeloid and usually erythroid progenitor cells in the bone marrow and an increased number of myeloblasts in the peripheral blood. The peripheral blood blast count ranges from 20% to 30%. RAEB-T used to be a subcategory of myelodysplastic syndromes in the past. Recently, the term has been eliminated from the WHO based classification of myelodysplastic syndromes. The reason is that the percentage of peripheral blood blasts required for the diagnosis of acute myeloid leukemia has been reduced to 20%. The elimination of the RAEB-T term by the WHO experts has created confusion and ongoing arguments. Currently, according to WHO classification, the vast majority of RAEB-T cases are best classified as acute leukemias (acute leukemias with multilineage dysplasia following myelodysplastic syndrome). A minority of cases are part of RAEB-2. tmpaxzxjjyw_mondo_relaxed.owl RAEB-t UMLS:C0002894|UMLS:C0280028|Orphanet:168960|ICD10:D46.3|UMLS:CN200189|NCIT:C27080|ICDO:9984/3|MedDRA:10038271|ICD9:238.73|SCTID:110000005 owl:Class HP:0004303 biolink:NamedThing Abnormal muscle fiber morphology Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of muscle fibers|Abnormality of muscle fibres|Abnormal muscle fibre morphology|Abnormal skeletal muscle fiber morphology|Abnormal skeletal muscle fibre morphology UMLS:C4021663 Normal human muscle is composed of many individual muscle fibers bundled together by layers of connective tissue that are arranged in a nesting-doll like fashion. The inner most structure, the single muscle fiber, is covered by a thin layer of primarily reticular fibers called the endomysium. The endomysium is quite inconspicuous and muscle fibers appear to be in direct contact with each other. The finest capillaries, nerve twigs and lymphatic capillaries are found within the endomysium. Groups of muscle fibers are bound together by the thicker perimysium, forming structures called fascicles. Capillaries, nerve fibers and lymphatic vessels also track in the perimyseum. Bundles of fascicles are encased within the dense irregular connective tissue of the epimysium. These connective tissue layers provide mechanical protection for the muscle fibers and increase the tensile strength of the muscle. The layers are continuous with the tendon, which provides attachment to bone. Individual muscle fibers are syncytia, formed by embryonic fusion of many myoblasts or later, myosatellite cells. Each muscle fiber contains many nuclei, peripherally positioned immediately adjacent to the sarcolemmal membrane. In healthy muscle only 3-5 percent of fibers contain nuclei that are located internally, within the cell, but many disease processes lead to internal nuclei. Each nucleus provides a segment of the cell with needed translated protein products. peter 2008-02-20T12:04:00Z HP:0003706|HP:0011806 human_phenotype owl:Class ECTO:7000064 biolink:NamedThing exposure to air A exposure event involving the interaction of an exposure receptor to air. tmpaxzxjjyw_mondo_relaxed.owl air exposure owl:Class ECTO:7000073 biolink:NamedThing exposure to mineral material A exposure event involving the interaction of an exposure receptor to mineral material. tmpaxzxjjyw_mondo_relaxed.owl mineral material exposure owl:Class MONDO:0014365 biolink:NamedThing spermatogenic failure 13 Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene. tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 13|TAF4B azoospermia|spermatogenic failure type 13|SPGF13|azoospermia caused by mutation in TAF4B DOID:0070182|UMLS:C4014449|OMIM:615841|Orphanet:399805 owl:Class MONDO:0008004 biolink:NamedThing familial mitral valve prolapse An instance of mitral valve prolapse (disease) that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl MVP|hereditary mitral valve prolapse (disease)|mitral valve prolapse, familial|mitral valve prolapse, familial, autosomal dominant GARD:0003687|OMIM:157700|OMIM:607829|ICD10:I34.1|SCTID:233858000|Orphanet:741|OMIMPS:157700|OMIM:610840 owl:Class CHEBI:33356 biolink:NamedThing iron group element atom tmpaxzxjjyw_mondo_relaxed.owl iron group elements|group 8 elements|iron group element owl:Class HGNC:19087 biolink:NamedThing EBF3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020654 biolink:NamedThing renal pelvis/ureter urothelial carcinoma A transitional cell carcinoma that arises from the renal pelvis and ureter. tmpaxzxjjyw_mondo_relaxed.owl TCC of renal pelvis and ureter|renal pelvis and ureter transitional cell carcinoma|transitional cell carcinoma of renal pelvis and ureter|renal pelvis and ureter transitional cell cancer|urothelial carcinoma of the renal pelvis and ureter|renal pelvis and ureter urothelial carcinoma|TCC of the renal pelvis and ureter|transitional cell cancer of renal pelvis and ureter|renal pelvis and ureter TCC|transitional cell cancer of the renal pelvis and ureter NCIT:C7716 owl:Class GO:0030343 biolink:NamedThing vitamin D3 25-hydroxylase activity Catalysis of the reaction: vitamin D3 + NADPH + H+ + O2 = calcidiol + NADP+ + H2O. tmpaxzxjjyw_mondo_relaxed.owl cholecalciferol 25-hydroxylase activity owl:Class GO:0070643 biolink:NamedThing vitamin D 25-hydroxylase activity Catalysis of the hydroxylation of C-25 of any form of vitamin D. tmpaxzxjjyw_mondo_relaxed.owl ergocalciferol 25-hydroxylase activity|calciferol 25-hydroxylase activity|vitamin D2 25-hydroxylase activity|cholecalciferol 25-hydroxylase activity owl:Class UBERON:0005295 biolink:NamedThing sex cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005371 biolink:NamedThing mood disorder A cognitive disorder a disturbance in which the person's mood is hypothesized to be the main underlying feature. tmpaxzxjjyw_mondo_relaxed.owl episodic mood disorder ICD10:F30-F39|ICD10:F30.F39|UMLS:CN236678|NCIT:C92200|DOID:3324|ICD9:296.99|EFO:0004247|SCTID:46206005|MESH:D019964|ICD10:F39 owl:Class MONDO:0032624 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 19 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19|MC1DN19 OMIM:618241 owl:Class MONDO:0001531 biolink:NamedThing blood coagulation disease A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. tmpaxzxjjyw_mondo_relaxed.owl disorder, blood coagulation|coagulation disorder, blood|coagulation defect|disorders, blood coagulation|blood coagulation disorder|coagulation disorder|coagulopathy|postpartum coagulation defect with delivery|coagulation disorders, blood|postpartum coagulation defect DOID:1247|ICD10:D68.9|ICD9:286.9|NCIT:C2902|SCTID:64779008|MESH:D001778|ICD9:286|ICD9:287.8 owl:Class MONDO:0002574 biolink:NamedThing prostate embryonal rhabdomyosarcoma A malignant mesenchymal neoplasm of the prostate. It is characterized by the presence of skeletal muscle exhibiting embryonic features. tmpaxzxjjyw_mondo_relaxed.owl prostate embryonal rhabdomyosarcoma|embryonal rhabdomyosarcoma of the prostate|embryonal rhabdomyosarcoma of prostate|prostate gland embryonal rhabdomyosarcoma (disease)|embryonal rhabdomyosarcoma (disease) of prostate gland NCIT:C5525|UMLS:C1335508|DOID:3251 owl:Class MONDO:0016961 biolink:NamedThing partial duplication of the long arm of chromosome 10 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome 10q|partial duplication of chromosome 10q|partial trisomy of the long arm of chromosome 10 Orphanet:262914 MONDO:0042978 owl:Class UBERON:0004869 biolink:NamedThing parietal organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054680 biolink:NamedThing epiphyseal dysplasia, multiple, 7 tmpaxzxjjyw_mondo_relaxed.owl multiple epiphyseal dysplasia 7|epiphyseal dysplasia, multiple, 7|EDM7 DOID:0070302|OMIM:617719 owl:Class UBERON:0002210 biolink:NamedThing syndesmosis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016205 biolink:NamedThing IRVAN syndrome tmpaxzxjjyw_mondo_relaxed.owl idiopathic retinal-aneurysms-neuroretinitis syndrome|idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome UMLS:C3665812|GARD:0012868|Orphanet:209943|ICD10:H35.0 owl:Class CL:1000330 biolink:NamedThing serous cell of epithelium of trachea A serous secreting cell that is part of the epithelium of trachea. tmpaxzxjjyw_mondo_relaxed.owl FMA:263078 cell owl:Class CL:0000313 biolink:NamedThing serous secreting cell Columnar glandular cell with irregular nucleus, copious granular endoplasmic reticulum and supranuclear granules. Secretes a watery fluid containing proteins known as serous fluid. tmpaxzxjjyw_mondo_relaxed.owl serous cell BTO:0003687|FMA:62511 cell owl:Class ENVO:01001191 biolink:NamedThing water surface The surface layer of a volume of water. tmpaxzxjjyw_mondo_relaxed.owl water body surface|surface of a body of water owl:Class UBERON:0010084 biolink:NamedThing future diaphragm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005009 biolink:NamedThing mucosa of trigone of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005137 biolink:NamedThing metanephric capsule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021320 biolink:NamedThing malignant tumor of floor of mouth A cancer that involves the mouth floor. tmpaxzxjjyw_mondo_relaxed.owl malignant floor of the mouth tumor|mouth floor cancer|malignant floor of the mouth neoplasm|malignant neoplasm of mouth floor|malignant neoplasm of the floor of the mouth|malignant mouth floor neoplasm|malignant tumor of the floor of the mouth|malignant neoplasm of floor of mouth|malignant floor of mouth tumor|malignant floor of mouth neoplasm|cancer of mouth floor ICD9:144.9|SCTID:363385007|NCIT:C9318|ICD9:144.8 owl:Class GO:1905651 biolink:NamedThing regulation of artery morphogenesis Any process that modulates the frequency, rate or extent of artery morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl regulation of arteriogenesis|regulation of arterial morphogenesis owl:Class MONDO:0000193 biolink:NamedThing cortisone reductase deficiency A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility. tmpaxzxjjyw_mondo_relaxed.owl 11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of|HSD 11B1 deficiency|CORTRD|deficiency of cortisone reductase|hyperandrogenism due to cortisone reductase deficiency|11-beta-hydroxysteroid dehydrogenase deficiency type 1|deficiency of (R)-20-hydroxysteroid dehydrogenase OMIM:604931|MESH:C536447|OMIMPS:604931|DOID:0090139|Orphanet:168588|SCTID:124138004|GARD:0009882|ICD9:277.6|ICD10:E25.8|UMLS:CN200166|OMIM:614662 https://rarediseases.info.nih.gov/diseases/9882/cortisone-reductase-deficiency owl:Class MONDO:0018051 biolink:NamedThing Jessner lymphocytic infiltration of the skin Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck. tmpaxzxjjyw_mondo_relaxed.owl Jessner-Kanof syndrome|lymphocytic infiltrate of Jessner|Jessner-Kanof lymphocytic infiltration of the skin|benign chronic T-cell infiltrative disorder|benign lymphocytic infiltration|Jessner disease UMLS:C0580181|ICD10:L98.6|Orphanet:33314|GARD:0006940 https://rarediseases.info.nih.gov/diseases/6940/lymphocytic-infiltrate-of-jessner owl:Class GO:0046541 biolink:NamedThing saliva secretion The regulated release of saliva from the salivary glands. In man, the saliva is a turbid and slightly viscous fluid, generally of an alkaline reaction, and is secreted by the parotid, submaxillary, and sublingual glands. In the mouth the saliva is mixed with the secretion from the buccal glands. In man and many animals, saliva is an important digestive fluid on account of the presence of the peculiar enzyme, ptyalin. tmpaxzxjjyw_mondo_relaxed.owl salivation owl:Class UBERON:0011919 biolink:NamedThing yolk sac blood island tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017337 biolink:NamedThing inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:289548|SCTID:764960005|ICD10:E27.1 owl:Class MONDO:0000930 biolink:NamedThing nodular malignant melanoma An aggressive form of melanoma, frequently metastasizing to the lymph nodes. It presents as a papular or nodular raised skin lesion. It comprises approximately 10-15% of melanomas. Morphologically, it often displays an epithelioid appearance. tmpaxzxjjyw_mondo_relaxed.owl nodular malignant melanoma of the skin|nodular malignant melanoma of skin|nodular melanoma|nodular melanoma (morphologic abnormality)|nodular cutaneous (skin) melanoma|nodular malignant skin melanoma ICDO:8721/3|GARD:0009961|NCIT:C4225|EFO:0008515|UMLS:C0334424|SCTID:254731001|DOID:10047 owl:Class MONDO:0008840 biolink:NamedThing ataxia telangiectasia Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer. tmpaxzxjjyw_mondo_relaxed.owl ataxia-telangiectasia|Louis Bar syndrome|immunodeficiency with ataxia telangiectasia|AT, complementation group C|Louis-Bar syndrome|AT1|AT, complementation group A|ataxia - telangiectasia|ataxia telangiectasia|AT, complementation group E|cerebello-oculocutaneous telangiectasia|AT|ataxia - telangiectasia variant|ataxia telangiectasia syndrome|AT, complementation group D|boder-Sedgwick syndrome OMIM:208900|SCTID:68504005|ICD10:G11.3|GARD:0005862|MedDRA:10003594|MESH:D001260|OMIM:208910|UMLS:C0004135|DOID:12704|NCIT:C2887|ICD9:334.8|Orphanet:100 https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia owl:Class MONDO:0032742 biolink:NamedThing encephalopathy, acute, infection-induced, susceptibility to, 9 tmpaxzxjjyw_mondo_relaxed.owl IIAE9|ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9 OMIM:618426 owl:Class MONDO:0008809 biolink:NamedThing polyneuropathy-hand defect syndrome Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986. tmpaxzxjjyw_mondo_relaxed.owl Hamanishi Ueba Tsuji syndrome|aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy|congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy|polyneuropathy, hand defect|digital extensor muscle aplasia-polyneuropathy|Hamanishi-Ueba-Tsuji syndrome OMIM:207740|ICD10:Q87.8|MESH:C535624|Orphanet:2926|UMLS:C2930955|GARD:0002589 https://rarediseases.info.nih.gov/diseases/2589/hamanishi-ueba-tsuji-syndrome owl:Class MONDO:0013249 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 84A Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 84A, with vestibular dysfunction|deafness, autosomal recessive 84A|autosomal recessive nonsyndromic deafness type 84A|PTPRQ autosomal recessive nonsyndromic deafness|DFNB84A|deafness, autosomal recessive type 84A|autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ|autosomal recessive nonsyndromic deafness 84A|autosomal recessive deafness 84A|autosomal recessive deafness 84A with vestibular dysfunction|deafness, autosomal recessive 84 ICD10:H90.3|DOID:0110529|OMIM:613391|UMLS:C3150654|Orphanet:90636 owl:Class NCBITaxon:120793 biolink:NamedThing Mycobacterium avium complex (MAC) tmpaxzxjjyw_mondo_relaxed.owl MAC PMID:1581195|PMID:9103630|PMID:30231956|GC_ID:11|PMID:8347508 ncbi_taxonomy owl:Class UBERON:0004548 biolink:NamedThing left eye tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007826 biolink:NamedThing peritoneal mesentery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013538 biolink:NamedThing alpha-2-macroglobulin deficiency tmpaxzxjjyw_mondo_relaxed.owl alpha-2-macroglobulin deficiency|ALPHA-2-macroglobulin deficiency|A2MD 2022-04-01 OMIM:614036|UMLS:C3279661|MESH:C566304 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class HGNC:1122 biolink:NamedThing BTD tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:25414 biolink:NamedThing monoatomic monocation tmpaxzxjjyw_mondo_relaxed.owl monovalent inorganic cations|monoatomic monocations owl:Class CHEBI:23906 biolink:NamedThing monoatomic cation tmpaxzxjjyw_mondo_relaxed.owl monoatomic cations owl:Class MONDO:0027407 biolink:NamedThing Kleefstra syndrome 1 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3. tmpaxzxjjyw_mondo_relaxed.owl chromosome 9q34.3 deletion syndrome|Kleefstra syndrome|KLEFS1|9q-syndrome|Kleefstra syndrome 1 NCIT:C129976|UMLS:C0795833|OMIM:610253|MESH:C563043|SCTID:724207001|DOID:0070075 owl:Class FOODON:03412115 biolink:NamedThing echinoderm Echinoderm is the common name given to any member of the phylum *Echinodermata* of marine animals. The adults are recognizable by their (usually five-point) radial symmetry, and include such well-known animals as sea stars, sea urchins, sand dollars, and sea cucumbers, as well as the sea lilies or "stone lilies". [https://en.wikipedia.org/wiki/Echinoderm] tmpaxzxjjyw_mondo_relaxed.owl Echinodermata|Echinodermata Klein, 1734 owl:Class HGNC:4688 biolink:NamedThing GUCY2C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008227 biolink:NamedThing peripheral dysostosis tmpaxzxjjyw_mondo_relaxed.owl dysostosis peripheral|peripheral dysostosis ICD10:Q74.8|UMLS:CN074256|OMIM:170700|GARD:0002015|Orphanet:1795|UMLS:C0220659 https://rarediseases.info.nih.gov/diseases/2015/dysostosis-peripheral owl:Class GO:2000847 biolink:NamedThing negative regulation of corticosteroid hormone secretion Any process that stops, prevents or reduces the frequency, rate or extent of corticosteroid hormone secretion. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of corticosteroid secretion owl:Class GO:0030731 biolink:NamedThing guanidinoacetate N-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine + H(+). tmpaxzxjjyw_mondo_relaxed.owl guanidinoacetate methyltransferase activity|GA methylpherase activity|guanidinoacetate transmethylase activity|methionine-guanidinoacetic transmethylase activity|guanidoacetate methyltransferase activity|S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase activity owl:Class GO:0008757 biolink:NamedThing S-adenosylmethionine-dependent methyltransferase activity Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to a substrate. tmpaxzxjjyw_mondo_relaxed.owl SAM-dependent methyltransferase activity|S-adenosyl methionine-dependent methyltransferase activity owl:Class MONDO:0005141 biolink:NamedThing Pseudomonas infection Infections with bacteria of the genus pseudomonas. tmpaxzxjjyw_mondo_relaxed.owl Pseudomonas caused disease or disorder|Pseudomonas infectious disease|Pseudomonas disease or disorder MESH:D011552|EFO:0001076|ICD9:041.7|SCTID:63398001 owl:Class UBERON:0002787 biolink:NamedThing decussation of trochlear nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35344 biolink:NamedThing 21-hydroxy steroid tmpaxzxjjyw_mondo_relaxed.owl 21-Hydroxysteroid|21-hydroxysteroids|21-hydroxy steroids owl:Class GO:0048512 biolink:NamedThing circadian behavior The specific behavior of an organism that recurs with a regularity of approximately 24 hours. tmpaxzxjjyw_mondo_relaxed.owl circadian rhythm behavior owl:Class UBERON:0001610 biolink:NamedThing lingual artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007078 biolink:NamedThing pseudohypoparathyroidism type 1A Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO). tmpaxzxjjyw_mondo_relaxed.owl pseudohypoparathyroidism type 1A|PHP1A|Albright hereditary osteodystrophy with multiple hormone resistance|pseudohypoparathyroidism, type IA|AHO|Albright hereditary osteodystrophy|Albright hereditary osteodystrophy-PHP syndrome Ia|PHP 1A|pseudohypoparathyroidism, type 1A|AHO-PHP syndrome Ia|Albright's hereditary osteodystrophy Orphanet:79443|DOID:0080053|UMLS:C2931404|UMLS:C0033806|ICD9:275.49|GARD:0007486|ICD10:E20.1|GARD:0005770|UMLS:C3494506|OMIM:103580|MESH:C537045|SCTID:58833000|NCIT:C129721 owl:Class UBERON:0014765 biolink:NamedThing crus of diaphragm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008325 biolink:NamedThing Pseudoatrophoderma colli tmpaxzxjjyw_mondo_relaxed.owl Pseudoatrophoderma colli MESH:C562909|OMIM:177350|SCTID:238840009|UMLS:C0406561 owl:Class HP:0000405 biolink:NamedThing Conductive hearing impairment An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. tmpaxzxjjyw_mondo_relaxed.owl Conductive deafness|Conductive hearing loss|Conduction deafness|Hearing loss, conductive UMLS:C0018777|MSH:D006314|SNOMEDCT_US:44057004 A conductive hearing impariment with greater than 90 dB loss. HP:0008581|HP:0000367 human_phenotype owl:Class HP:0011452 biolink:NamedThing Functional abnormality of the middle ear An abnormality of the function of the middle ear. tmpaxzxjjyw_mondo_relaxed.owl Functional abnormality of the middle ear UMLS:C4021846 The middle ear comprises the tympanic cavity in the temporal bone of the skull behind the eardrum, and is separated from the outer ear by the ear drum. The tympanic cavity contains the auditory ossicles (malleus, incus, stapes) that vibrate when exposed to sound, forming a chain that extends to the oval window of the inner ear and whose main function is to amplify sound. Additionally, the middle ear connects to the back of the throat and nose through the Eustachian tube. peter 2012-03-19T09:33:03Z human_phenotype owl:Class GO:0016125 biolink:NamedThing sterol metabolic process The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. tmpaxzxjjyw_mondo_relaxed.owl sterol metabolism owl:Class MONDO:0054770 biolink:NamedThing orofaciodigital syndrome 18 tmpaxzxjjyw_mondo_relaxed.owl OFD18|oral-Facial-digital syndrome, type 18|orofaciodigital syndrome XVIII|Ofds 18 OMIM:617927|UMLS:CN244546 owl:Class MONDO:0015375 biolink:NamedThing orofaciodigital syndrome Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl OFD|oral facial digital syndromes|oral-facial-digital syndrome|oral-facial-digital syndromes|orofaciodigital syndrome|orofaciodigital syndromes ICD9:759.89|SCTID:52868006|DOID:4501|MESH:D009958|GARD:0010692|ICD10:Q87.0|OMIMPS:311200|Orphanet:140997 owl:Class HGNC:3393 biolink:NamedThing EPHB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003532 biolink:NamedThing breast papillary carcinoma A breast carcinoma characterized by the formation of irregular, finger-like projections of fibrous stroma covered with neoplastic epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl breast papillary carcinoma|papillary carcinoma of the breast|papillary breast carcinoma|papillary carcinoma of breast|solid papillary carcinoma of the breast|breast solid papillary carcinoma|Papillary breast cancer DOID:5592|UMLS:C1336027|NCIT:C9134|UMLS:C3812899 owl:Class MONDO:0002512 biolink:NamedThing papillary adenocarcinoma A morphologic variant of adenocarcinoma. It is characterized by the presence of a papillary growth pattern. Representative examples include thyroid gland papillary carcinoma, invasive papillary breast carcinoma, and ovarian serous surface papillary adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma, papillary, malignant|infiltrating and papillary adenocarcinoma|infiltrating papillary adenocarcinoma|papillary adenocarcinoma (morphologic abnormality)|papillary adenocarcinoma NOS (morphologic abnormality)|papillary adenocarcinoma UMLS:C1321863|MESH:D000231|NCIT:C2853|DOID:3112|ICDO:8260/3|UMLS:C0001420 owl:Class UBERON:0010899 biolink:NamedThing synchronous hermaphroditic organism tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002482 biolink:NamedThing nipple neoplasm A benign or malignant neoplasm that arises in the area of the nipple. tmpaxzxjjyw_mondo_relaxed.owl nipple neoplasm (disease)|nipple tumor|neoplasm of nipple|neoplasm of the nipple|tumor of nipple|tumor of the nipple|nipple neoplasm DOID:3003|UMLS:C1112166|NCIT:C5212 owl:Class MONDO:0013867 biolink:NamedThing brown-Vialetto-van Laere syndrome 2 Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A2 gene. tmpaxzxjjyw_mondo_relaxed.owl Brown-Vialetto-Van Laere syndrome type 2|Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2|BVVLS2|brown-Vialetto-van Laere syndrome 2|BROWN-Vialetto-VAN Laere syndrome 2|SLC52A2 Brown-Vialetto-van Laere syndrome HGNC:30224|Orphanet:97229|GARD:0012861|OMIM:614707|UMLS:C3553538 https://rarediseases.info.nih.gov/diseases/12861/brown-vialetto-van-laere-syndrome-2 owl:Class ENVO:00003082 biolink:NamedThing enriched soil A portion of enriched soil is a portion of soil with elevated levels of some material entity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001137 biolink:NamedThing ice planet A planet which has a surface layer that nearly completely or completely covered by ice, and which has a substantial portion of its mass composed of ice. tmpaxzxjjyw_mondo_relaxed.owl cryoplanet owl:Class MONDO:0012195 biolink:NamedThing arthrogryposis-severe scoliosis syndrome Distal arthrogryposis type 4 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal. tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis with Severe scoliosis|arthrogryposis, distal, type 2D|distal arthrogryposis type IID|DA4|arthrogryposis, distal, type 4|distal arthrogryposis type 4 ICD10:Q68.8|UMLS:C1836756|SCTID:715575001|MESH:C563791|Orphanet:65720|OMIM:609128 owl:Class MONDO:0014415 biolink:NamedThing kallikrein, decreased urinary activity of tmpaxzxjjyw_mondo_relaxed.owl kallikrein, decreased urinary activity of OMIM:615953|MESH:C563653 owl:Class MONDO:0001155 biolink:NamedThing gastrojejunal ulcer tmpaxzxjjyw_mondo_relaxed.owl acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction|acute gastrojejunal ulcer with hemorrhage and obstruction|acute gastrojejunal ulcer with hemorrhage, with perforation and with obstruction|acute gastrojejunal ulcer without hemorrhage and without perforation|acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|chronic gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction|acute gastrojejunal ulcer with perforation, with obstruction|acute gastrojejunal ulcer with hemorrhage and perforation|chronic gastrojejunal ulcer without hemorrhage and without perforation|acute gastrojejunal ulcer with perforation|acute gastrojejunal ulcer with perforation and obstruction|acute gastrojejunal ulcer without hemorrhage, without perforation and without obstruction|acute gastrojejunal ulcer, with hemorrhage, with obstruction|acute gastrojejunal ulcer with hemorrhage UMLS:C0156048|SCTID:4269005|UMLS:C0156045|UMLS:C0156042|UMLS:C0156047|ICD10:K28.0|UMLS:C0156044|UMLS:C0156050|ICD9:534.0|DOID:10927 owl:Class UBERON:0004375 biolink:NamedThing bone of free limb or fin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004014 biolink:NamedThing ethmoid sinus ectopic meningioma An extremely rare meningioma that arises as a primary ectopic tumor in the ethmoid sinus. tmpaxzxjjyw_mondo_relaxed.owl primary ectopic meningioma of ethmoidal sinus|primary ectopic meningioma of the ethmoidal sinus|ethmoid sinus primary ectopic meningioma|primary ectopic meningioma of the ethmoid sinus|primary ectopic meningioma of ethmoid sinus|ethmoidal sinus primary ectopic meningioma UMLS:C1333475|DOID:6854|NCIT:C5309 owl:Class HGNC:92 biolink:NamedThing ACADVL tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:838 biolink:NamedThing ATP5F1E tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0120039 biolink:NamedThing plasma membrane bounded cell projection morphogenesis The process in which the anatomical structures of a plasma membrane bounded cell projection are generated and organized. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048858 biolink:NamedThing cell projection morphogenesis The process in which the anatomical structures of a cell projection are generated and organized. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8619 biolink:NamedThing PAX5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:474019 biolink:NamedThing Sarcoptinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:52281 biolink:NamedThing Sarcoptidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016163 biolink:NamedThing autosomal dominant cerebellar ataxia type II tmpaxzxjjyw_mondo_relaxed.owl ADCA2|autosomal dominant cerebellar ataxia type II|ADCAII|autosomal dominant cerebellar ataxia type 2 Orphanet:208508|UMLS:CN229031 owl:Class MONDO:0007972 biolink:NamedThing Meniere disease A disease of the inner ear (labyrinth) that is characterized by fluctuating sensorineural hearing loss; tinnitus; episodic vertigo; and aural fullness. It is the most common form of endolymphatic hydrops. tmpaxzxjjyw_mondo_relaxed.owl Meniere's disease|otogenic vertigo|Meniere disease|Mnire's vertigo SCTID:13445001|OMIM:156000|UMLS:C0025281|Orphanet:45360|ICD9:386.00|DOID:9849|EFO:0006862|ICD10:H81.0|MESH:D008575|ICD10:H81.09|ICD9:386.0 owl:Class UBERON:0005806 biolink:NamedThing portal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010158 biolink:NamedThing T-substance anomaly tmpaxzxjjyw_mondo_relaxed.owl T-substance anomaly OMIM:276200 owl:Class MONDO:0043777 biolink:NamedThing rhinophyma Progressive enlargement of the nose due to hypertrophy of the sebaceous glands of the tip of the nose and fibrosis. It usually affects older men and is associated with long-standing acne rosacea. It presents as a pink lobulated mass with dilated vessels in the nose. tmpaxzxjjyw_mondo_relaxed.owl rhinophyma|hypertrophic rosacea|Rhinophymas MESH:D012224|UMLS:C0035466|SCTID:19877001|NCIT:C34989 owl:Class MONDO:0006604 biolink:NamedThing rosacea A chronic erythematous skin disorder that affects the face. It is characterized by the development of redness in the cheeks, nose, and/or forehead and telangiectasia. Sometimes, the erythematous changes may involve the eyelids. tmpaxzxjjyw_mondo_relaxed.owl acne rosacea|acne roscea|acne, erythematosa Wikipedia:Rosacea|ICD9:695.3|SCTID:398909004|UMLS:C0035854|DOID:8881|ICD10:L71|NCIT:C97136|EFO:1000760|MESH:D012393|ICD10:L71.9 owl:Class MONDO:0014360 biolink:NamedThing developmental and epileptic encephalopathy, 21 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 21|early infantile epileptic encephalopathy caused by mutation in NECAP1|NECAP1 early infantile epileptic encephalopathy|EIEE21|DEE21|epileptic encephalopathy, early infantile, 21 OMIM:615833|UMLS:C4014430|DOID:0080443 owl:Class GO:0051966 biolink:NamedThing regulation of synaptic transmission, glutamatergic Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3553 biolink:NamedThing FAAH tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010027 biolink:NamedThing dorsal part of pharyngeal pouch 4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002134 biolink:NamedThing Abnormality of the basal ganglia Abnormality of the basal ganglia. tmpaxzxjjyw_mondo_relaxed.owl Basal ganglia disease|Anomaly of the basal ganglia SNOMEDCT_US:70835005|UMLS:C0004782|MSH:D001480 The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal. HP:0007257|HP:0006952 human_phenotype owl:Class MONDO:0007186 biolink:NamedThing gastroesophageal reflux disease A chronic disorder characterized by reflux of the gastric and/or duodenal contents into the distal esophagus. It is usually caused by incompetence of the lower esophageal sphincter. Symptoms include heartburn and acid indigestion. It may cause injury to the esophageal mucosa. tmpaxzxjjyw_mondo_relaxed.owl Gastresophageal reflux|GERD - gastro-esophageal reflux disease|acid reflux|ger|GERD|gastroesophageal reflux disease|gastroesophageal reflux, pediatric|gastro-esophageal reflux|gastroesophageal reflux EFO:0003948|OMIM:109350|MESH:D005764|NCIT:C26781|ICD10:K21.9|ICD9:530.81|UMLS:C0017168|NCIT:C92560|SCTID:235595009|ICD10:K21|DOID:8534 owl:Class MONDO:0032806 biolink:NamedThing trichothiodystrophy 7, nonphotosensitive tmpaxzxjjyw_mondo_relaxed.owl TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE|TTD7 OMIM:618546 owl:Class CHEBI:23423 biolink:NamedThing pseudohalogen oxoacid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033369 biolink:NamedThing developmental and epileptic encephalopathy, 60 tmpaxzxjjyw_mondo_relaxed.owl DEE60|epileptic encephalopathy, early infantile, 60|EIEE60 UMLS:CN244549|DOID:0080432|OMIM:617929 owl:Class NCBITaxon:2082224 biolink:NamedThing Strongyloidoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2082223 biolink:NamedThing Panagrolaimomorpha tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:35573 biolink:NamedThing organic mancude parent tmpaxzxjjyw_mondo_relaxed.owl organic mancude parents|organic mancude-ring parents owl:Class CHEBI:35568 biolink:NamedThing mancude ring Any molecular entity that consists of a ring having (formally) the maximum number of noncumulative double bonds. tmpaxzxjjyw_mondo_relaxed.owl mancude rings|mancunide-ring systems|mancude-ring systems owl:Class HGNC:1371 biolink:NamedThing CA12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:526525 biolink:NamedThing Erysipelotrichales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class HGNC:6211 biolink:NamedThing ANOS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002693 biolink:NamedThing Abnormality of the skull base An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of cranial base|Abnormality of the skull base UMLS:C4025688 human_phenotype owl:Class HP:0000929 biolink:NamedThing Abnormal skull morphology An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the skull bones|Abnormality of the skull UMLS:C0235942 human_phenotype owl:Class MONDO:0032763 biolink:NamedThing immunodeficiency 62 tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 62|IMD62|IMMUNODEFICIENCY 62 OMIM:618459 owl:Class MONDO:0002496 biolink:NamedThing submucosal invasive colon adenocarcinoma An adenocarcinoma of the colon that has invaded into the submucosa. tmpaxzxjjyw_mondo_relaxed.owl submucosal invasive colon adenocarcinoma UMLS:C1515024|DOID:3038|NCIT:C38760 owl:Class MONDO:0018844 biolink:NamedThing urachal cyst Urachal cyst is a congenital urachal anomaly characterized by a failure of complete closure of the urachus, in which both ends are closed but the central lumen remains patent. It is typically asymptomatic but may become clinically significant when infected, presenting as a mass in the umbilical region accompanied by abdominal pain and fever. tmpaxzxjjyw_mondo_relaxed.owl urachal cyst (disease)|urachal cyst urachal cyst (disease) Orphanet:488|MESH:D014496|NCIT:C85216|ICD10:Q64.4|SCTID:17234001|GARD:0005425|MedDRA:10065375|HP:0012618 owl:Class MONDO:0700032 biolink:NamedThing complete trisomy 18 Trisomy 18 in which the presence of an extra copy of chromosome 18 is present in all the cells of the organism. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0001795 biolink:NamedThing inner plexiform layer of retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:25388 biolink:NamedThing monohydroxybenzoate A hydroxybenzoate carrying a single hydroxy substituent at unspecified position. tmpaxzxjjyw_mondo_relaxed.owl monohydroxybenzoates owl:Class MONDO:0027091 biolink:NamedThing xanthogranulomatous sialadenitis tmpaxzxjjyw_mondo_relaxed.owl sialadenitis, xanthogranulomatous|xanthogranulomatous salivary gland disease GARD:0009739 owl:Class MONDO:0009760 biolink:NamedThing Norman-Roberts syndrome Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation. tmpaxzxjjyw_mondo_relaxed.owl lissencephaly syndrome Norman-Roberts type|LIS2|lissencephaly type 2|Microlissencephaly type A|Norman-Roberts syndrome|lissencephaly syndrome, Norman-Roberts type|lissencephaly 2|Norman Roberts lissencephaly syndrome OMIM:257320|SCTID:717977003|GARD:0003277|UMLS:C0796089|ICD10:Q04.3|DOID:0060902|Orphanet:89844 owl:Class MONDO:0005387 biolink:NamedThing primary ovarian failure Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries. tmpaxzxjjyw_mondo_relaxed.owl premature ovarian failure|premature ovarian insufficiency|hypergonadotropic hypogonadism|hypergonadotrophic ovarian failure|premature menopause|female hypergonadotropic hypogonadism|primary female hypogonadism|primary ovarian insufficiency|hypergonadotropic hypogonadism (female)|primary ovarian failure DOID:5426|ICD10:E28.3|Orphanet:619|ICD9:256.39|SCTID:370999003|SCTID:237788002|UMLS:C0085215|EFO:0004266|ICD9:253.4|NCIT:C113352|MESH:D016649|SCTID:65846009 owl:Class UBERON:0004777 biolink:NamedThing respiratory system submucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100453 biolink:NamedThing GUCY2D-related recessive retinopathy A retinopathy caused by biallelic variants in the GUCY2D gene. tmpaxzxjjyw_mondo_relaxed.owl retinal cone dystrophy 2|retinal blindness, congenital|amaurosis congenita of Leber, type 1|GUCY2D Leber congenital amaurosis|cone-rod dystrophy type 6|LCA|Leber congenital amaurosis caused by mutation in GUCY2D|Leber congenital amaurosis type 1|CORD6|cone-rod dystrophy caused by mutation in GUCY2D|amaurosis congenita of Leber I|Leber congenital amaurosis 1|RCD2|LCA1|amaurosis congenita of Leber 1|cone-rod dystrophy 6|CRB|night blindness, congenital stationary, type 1I|GUCY2D cone-rod dystrophy|recessive GUCY2D retinopathy http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100454 biolink:NamedThing GUCY2D retinopathy Any inherited retinal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. tmpaxzxjjyw_mondo_relaxed.owl retinopathy caused by mutation in GUCY2D http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class UBERON:0004468 biolink:NamedThing set of muscles of vertebral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010821 biolink:NamedThing familial developmental dysphasia Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. tmpaxzxjjyw_mondo_relaxed.owl dysphasia, familial developmental|developmental dysphasia familial|developmental language disorder|specific language impairment|Billard-Toutain-Maheut syndrome|FOXP2-associated dysphasia ICD10:F80.1|UMLS:C1838630|OMIM:600117|GARD:0001823|Orphanet:1799|SCTID:721220004|MESH:C563997 https://rarediseases.info.nih.gov/diseases/1823/developmental-dysphasia-familial owl:Class MONDO:0100150 biolink:NamedThing RYR1-related myopathy tmpaxzxjjyw_mondo_relaxed.owl RYR1-related myopathy A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion. http://orcid.org/0000-0001-5208-3432 owl:Class CHEBI:25435 biolink:NamedThing mutagen An agent that increases the frequency of mutations above the normal background level, usually by interacting directly with DNA and causing it damage, including base substitution. tmpaxzxjjyw_mondo_relaxed.owl mutagene|mutagenes|mutagens|mutagenos|mutageno|mutagenic agent owl:Class HP:0001702 biolink:NamedThing Abnormal tricuspid valve morphology Any structural anomaly of the tricuspid valve. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the tricuspid valve EPCC:06.01.00|UMLS:C4025753 HP:0031440 human_phenotype owl:Class HP:0006705 biolink:NamedThing Abnormal atrioventricular valve morphology An abnormality of an atrioventricular valve. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the atrioventricular valves UMLS:C4024995 peter 2008-03-29T03:34:00Z HP:0006675 human_phenotype owl:Class MONDO:0014592 biolink:NamedThing microcephaly and chorioretinopathy 3 Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene. tmpaxzxjjyw_mondo_relaxed.owl microcephaly and chorioretinopathy caused by mutation in TUBGCP4|microcephaly and chorioretinopathy type 3|microcephaly and chorioretinopathy, autosomal recessive, 3|microcephaly and chorioretinopathy, autosomal recessive, type 3|TUBGCP4 microcephaly and chorioretinopathy|MCCRP3 OMIM:616335|Orphanet:2518|DOID:0080107|UMLS:C4225362 owl:Class GO:0099103 biolink:NamedThing channel activator activity Direct interaction with a channel (binding or modification), resulting in its opening. A channel catalyzes energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. tmpaxzxjjyw_mondo_relaxed.owl channel gating activity owl:Class MONDO:0015032 biolink:NamedThing intraneural perineurioma A WHO grade I perineurioma that arises within the endoneurium. It is characterized by the formation of pseudo-onion bulbs by the proliferating perineural cells. tmpaxzxjjyw_mondo_relaxed.owl intraneural perineurioma|intraneural perineurioma (WHO grade I) SCTID:768934004|NCIT:C6911|UMLS:C1370658|GARD:0010921|DOID:4696|Orphanet:100003 https://rarediseases.info.nih.gov/diseases/10921/intraneural-perineurioma owl:Class MONDO:0019404 biolink:NamedThing perineurioma A usually benign perineurioma not associated with a nerve, arising from the soft tissues. tmpaxzxjjyw_mondo_relaxed.owl soft tissue perineurioma|perineurioma ICD10:C47.9|DOID:4697|GARD:0012698|Orphanet:85102|MESH:D018317|ICDO:9571/0|UMLS:C0751691|SCTID:404036006|NCIT:C4973|ICD9:215.9 https://rarediseases.info.nih.gov/diseases/12698/perineurioma owl:Class HP:0001669 biolink:NamedThing Transposition of the great arteries A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. tmpaxzxjjyw_mondo_relaxed.owl Transposition of great vessels SNOMEDCT_US:204296002|SNOMEDCT_US:26146002|UMLS:C3536741 human_phenotype owl:Class MONDO:0001387 biolink:NamedThing penile sarcoma A malignant soft tissue neoplasm that arises from the penis. Representative examples include Kaposi sarcoma, leiomyosarcoma, and angiosarcoma. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of penis|sarcoma of the penis|penis sarcoma|penile sarcoma UMLS:C0238352|DOID:11838|NCIT:C7730 owl:Class MONDO:0019739 biolink:NamedThing atypical hemolytic-uremic syndrome with anti-factor H antibodies tmpaxzxjjyw_mondo_relaxed.owl atypical HUS with anti-factor H antibodies|aHUS with anti-factor H antibodies|hemolytic-uremic syndrome without diarrhea with anti-factor H antibodies|D-HUS with anti-factor H antibodies UMLS:CN206652|OMIM:235400|Orphanet:93581|ICD10:D58.8 owl:Class MONDO:0009335 biolink:NamedThing hemolytic uremic syndrome, atypical, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl Ahus, susceptibility to, 1|hemolytic uremic syndrome, typical|hemolytic uremic syndrome, atypical, susceptibility to, type 1|hemolytic uremic syndrome, atypical, susceptibility to, 1|AHUS1|susceptibility to atypical hemolytic uremic syndrome 1 Orphanet:93579|OMIM:235400|Orphanet:2134|Orphanet:90038|Orphanet:93581 owl:Class MONDO:0015005 biolink:NamedThing epilepsy, early-onset, vitamin B6-dependent tmpaxzxjjyw_mondo_relaxed.owl epilepsy, early-onset, vitamin B6-dependent|EPVB6D|epilepsy, early-onset, vitamin B6-dependent; EPVB6D OMIM:617290|UMLS:C4310632 owl:Class MONDO:0009945 biolink:NamedThing pyridoxine-dependent epilepsy A rare neurometabolic disease characterized by recurrent intractable seizures in the prenatal, neonatal and postnatal period that are resistant to anti-epileptic drugs (AEDs) but that are responsive to pharmacological dosages of pyridoxine (vitamin B6). tmpaxzxjjyw_mondo_relaxed.owl antiquitin deficiency|EPD|AASA dehydrogenase deficiency|vitamin B6-dependent seizures|pyridoxine-dependent epilepsy|Epd|epilepsy, pyridoxine-dependent|pyridoxine dependency with seizures|pyridoxine dependency UMLS:CN203406|SCTID:734434007|OMIM:266100|ICD10:G40.8|GARD:0009298|Orphanet:3006|UMLS:C1849508|OMIM:617290|MESH:C536254 https://rarediseases.info.nih.gov/diseases/9298/pyridoxine-dependent-epilepsy owl:Class MONDO:0005140 biolink:NamedThing ovarian carcinoma A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms. --2002 tmpaxzxjjyw_mondo_relaxed.owl ovarian epithelial cancer|ovarian carcinoma|ovarian cancer|carcinoma of the ovary|epithelial ovarian cancer|ovary carcinoma|carcinoma of ovary DOID:4001|MESH:C538090|NCIT:C4908|OMIM:167000|MESH:D010051|EFO:0001075 Editor note: unclear why this is distinct from malignant ovarian epithelial tumor in NCIT. owl:Class GO:0002232 biolink:NamedThing leukocyte chemotaxis involved in inflammatory response The movement of an immune cell in response to an external stimulus contributing to an inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl leucocyte chemotaxis during inflammatory response|leukocyte chemotaxis during inflammatory response|immune cell chemotaxis during inflammatory response owl:Class MONDO:0018163 biolink:NamedThing autosomal recessive cutis laxa type 2A An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive cutis laxa type IIA|ARCL2A|cutis laxa with Joint laxity and retarded development|cutis laxa, autosomal recessive type 2A|cutis laxa, autosomal recessive, type 2A|cutis laxa, autosomal recessive, type IIA|autosomal recessive cutis laxa type 2A|cutis laxa with congenital disorder of glycosylation|cutis laxa with bone dystrophy|cutis laxa, debre type|cutis laxa with growth and developmental delay GARD:0001638|DOID:0070134|OMIM:278250|Orphanet:357058|ICD10:Q82.8|OMIM:219200 owl:Class ENVO:01001054 biolink:NamedThing non-saline aerosol environment An environmental system which has its properties and dynamics determined by an aerosol with a low concentration of dissolved solutes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001052 biolink:NamedThing aerosol environment An environmental system which has its properties and dynamics determined by an aerosol. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:20449 biolink:NamedThing PADI6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003419 biolink:NamedThing Bartholin gland adenoma A rare, benign neoplasm that arises from the Bartholin gland and is characterized by the presence of clustered glands and tubules lined by mucin-secreting epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl Bartholin's gland adenoma|Bartholin gland adenoma|major vestibular gland adenoma NCIT:C40299|UMLS:C1511048|DOID:5382 owl:Class CL:2000015 biolink:NamedThing fibroblast of arm Any skin fibroblast that is part of a arm. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-04T15:29:06Z cell owl:Class CL:0002620 biolink:NamedThing skin fibroblast A fibroblast of skin. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-0935|BTO:0001255 tmeehan 2011-03-14T12:31:49Z cell owl:Class UBERON:0004416 biolink:NamedThing proximal epiphysis of metacarpal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013506 biolink:NamedThing schizophrenia 16 A schizophrenia that has material basis in a mutation on chromosome 7q36.3. tmpaxzxjjyw_mondo_relaxed.owl chromosome 7Q36.3 Duplication syndrome, 362-Kb|SCZD16|schizophrenia susceptibility locus, chromosome 7Q36.3-related|schizophrenia 16|schizophrenia type 16 OMIM:613959|DOID:0070092|UMLS:C3151408 owl:Class MONDO:0010968 biolink:NamedThing glaucoma 3, primary infantile, B tmpaxzxjjyw_mondo_relaxed.owl glaucoma 3, primary infantile, B|Glc3, type B|glaucoma, primary congenital, type B|glaucoma primary congenita type 3B|primary congenital glaucoma type 3B|GLC3B|glaucoma 3 primary infantile B|GLC3 type B|primary congenital glaucoma UMLS:C1832977|Orphanet:98976|OMIM:600975|Orphanet:156005|MESH:C536824|GARD:0002490 https://rarediseases.info.nih.gov/diseases/2490/glaucoma-3-primary-infantile-b owl:Class MONDO:0020366 biolink:NamedThing congenital glaucoma Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm. tmpaxzxjjyw_mondo_relaxed.owl buphthalmia|Buphthalmus|primary congenital glaucoma|buphthalmos ICD10:Q15.0|OMIM:600975|Orphanet:98976|OMIM:231300|NCIT:C50648|SCTID:204113001|GARD:0002485|OMIM:617272|OMIM:613086|OMIM:613085 Editor note: check placement of subclasses owl:Class HGNC:3432 biolink:NamedThing ERBB4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017734 biolink:NamedThing sialidosis Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. tmpaxzxjjyw_mondo_relaxed.owl SCTID:38795005|MedDRA:10058800|Orphanet:309294|ICD10:E77.1 owl:Class MONDO:0003829 biolink:NamedThing chromophil adenoma of the kidney A controversial term, used for renal papillary lesions which measure 1cm or less in diameter and contain small, regular nuclei. tmpaxzxjjyw_mondo_relaxed.owl renal papillary adenoma|papillary adenoma of the kidney|chromophil adenoma of the kidney NCIT:C3687|UMLS:C1518879|DOID:6257 owl:Class MONDO:0002395 biolink:NamedThing renal adenoma An adenoma arising from the renal cortex. tmpaxzxjjyw_mondo_relaxed.owl renal cell adenoma|renal tubule adenoma|renal adenoma|renal cell adenoma (morphologic abnormality)|adenoma, renal cell, benign|kidney adenoma UMLS:C0334684|NCIT:C8383|DOID:2697 owl:Class MONDO:0007165 biolink:NamedThing spastic ataxia 7 Spastic ataxia with congenital miosis is a rare hereditary ataxia characterized by an apparently non-progressive or slowly progressive symmetrical ataxia of gait, pyramidal signs in the limbs, spasticity and hyperreflexia (especially in the lower limbs) together with dysarthria and impaired pupillary reaction to light, presenting as a fixed miosis (with pupils that seldom exceed 2 mm in diameter and dilate poorly with mydriatics). Nystagmus may also be present. tmpaxzxjjyw_mondo_relaxed.owl spastic ataxia with congenital miosis|autosomal dominant spastic ataxia type 7|spastic ataxia 7, autosomal dominant|SPAX7|miosis, congenital, with spastic ataxia|spastic ataxia type 7 MESH:C566247|Orphanet:1182|SCTID:763669001|DOID:0050945|OMIM:108650|ICD10:G11.4|UMLS:C1862441 owl:Class MONDO:0011698 biolink:NamedThing glycine N-methyltransferase deficiency Glycine N-methyltransferase deficiency (GNMT deficiency) is a very rare condition characterized by persistent and isolated excess levels of methionine in the blood (hypermethioninemia). The only clinical abnormalities are mild increase of the liver size (hepatomegaly) and chronic elevation of the transaminase levels in the blood without liver disease. Methionine may also be increased in urine. However, because elevated levels of methionine in the blood itself is a risk factor for development of neurological signs and symptoms, people with GNMT deficiency can have neurological problems when methionine levelsare greater than 800μmol/L. GNMT deficiency is caused by mutations in the GNMT gene. Inheritance is autosomal recessive. Treatment is not needed in most cases. tmpaxzxjjyw_mondo_relaxed.owl hypermethioninemia due to glycine N-methyltransferase deficiency|glycine N-methyltransferase deficiency|Glycine N-methyltransferase deficiency|hypermethioninemia due to GNMT deficiency|GNMT deficiency GARD:0010764|Orphanet:289891|DOID:0111037|UMLS:C1847720|OMIM:606664|SCTID:763720007|ICD10:E72.1 https://rarediseases.info.nih.gov/diseases/10764/glycine-n-methyltransferase-deficiency owl:Class MONDO:0019076 biolink:NamedThing circumscribed palmoplantar hypokeratosis Circumscribed palmoplantar hypokeratosis is an ectodermal dysplasia characterised by circular, well-circumscribed patches of erythematous depressed skin. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:69744 owl:Class GO:0003845 biolink:NamedThing 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD(P)+ = an 11-oxosteroid + NAD(P)H + H(+). tmpaxzxjjyw_mondo_relaxed.owl 11beta-hydroxy steroid dehydrogenase|corticosteroid 11beta-dehydrogenase|dehydrogenase, 11beta-hydroxy steroid|11beta-hydroxysteroid dehydrogenase|corticosteroid 11-reductase|beta-hydroxysteroid dehydrogenase owl:Class MONDO:0015590 biolink:NamedThing classic paraneoplastic limbic encephalitis Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder characterized by the sudden onset of seizures, progressive memory impairment (which may develop into dementia) and psychiatric manifestations (e.g. depression, personality changes, loss of social inhibition) associated with cancer (most commonly small-cell carcinoma of the lung) in the absence of tumor cell invasion of the nervous system. Other reported features include ataxia, dystonia, paresthesia, tremors, paranoid ideation, and hallucinations. The presence of antibodies that act on neuronal antigens (such as anti-Hu, anti-Ma2, anti-amphiphysin) are typically observed. tmpaxzxjjyw_mondo_relaxed.owl classic paraneoplastic limbic encephalitis, with or without intracellular antigens Orphanet:163898|ICD10:G13.1 owl:Class MONDO:0015589 biolink:NamedThing paraneoplastic limbic encephalitis A rare disorder characterized by degenerative changes in the limbic area of the brain. Causes include infections and autoimmune conditions; it may also manifest as a paraneoplastic syndrome, most often caused by small cell lung carcinoma. Signs and symptoms include behavioral changes, hallucinations and dementia. tmpaxzxjjyw_mondo_relaxed.owl limbic encephalitis SCTID:445014002|ICD10:G13.1|Orphanet:163895|NCIT:C4350|ICD9:323.81 owl:Class MONDO:0032623 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 18 tmpaxzxjjyw_mondo_relaxed.owl MC1DN18|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 OMIM:618240 owl:Class HGNC:16512 biolink:NamedThing BSND tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005001 biolink:NamedThing mucosa of common hepatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005496 biolink:NamedThing steroid binding Binding to a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0097159 biolink:NamedThing organic cyclic compound binding Binding to an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018576 biolink:NamedThing non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl ICD10:G93.4|Orphanet:436271 owl:Class MONDO:0016799 biolink:NamedThing mitochondrial oxidative phosphorylation disorder with no known mechanism tmpaxzxjjyw_mondo_relaxed.owl OXPHOS disease with no known mechanism 2022-03-01 UMLS:CN202054|Orphanet:254822 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO_0016387 owl:Class CHEBI:50683 biolink:NamedThing EC 1.5.1.3 (dihydrofolate reductase) inhibitor An EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of dihydrofolate reductase (EC 1.5.1.3). tmpaxzxjjyw_mondo_relaxed.owl 7,8-dihydrofolate reductase inhibitor|folic reductase inhibitor|dihydrofolic reductase inhibitors|tetrahydrofolate dehydrogenase inhibitors|folic acid reductase inhibitors|DHFR inhibitor|NADPH-dihydrofolate reductase inhibitors|EC 1.5.1.3 inhibitor|EC 1.5.1.3 (dihydrofolate reductase) inhibitors|dihydrofolic acid reductase inhibitors|dihydrofolate reductase inhibitors|folic acid reductase inhibitor|dihydrofolate reductase inhibitor|dihydrofolic acid reductase inhibitor|7,8-dihydrofolate reductase inhibitors|dihydrofolate reductase (EC 1.5.1.3) inhibitors|folic reductase inhibitors|tetrahydrofolate dehydrogenase inhibitor|dihydrofolic reductase inhibitor|NADPH-dihydrofolate reductase inhibitor|EC 1.5.1.3 inhibitors|DHFR inhibitors|dihydrofolate reductase (EC 1.5.1.3) inhibitor owl:Class CHEBI:73913 biolink:NamedThing antifolate An antimetabolite that impairs the action of folic acids tmpaxzxjjyw_mondo_relaxed.owl antifolates|folic acid antagonists|folic acid antagonist owl:Class MONDO:0006806 biolink:NamedThing intermediate uveitis Inflammation of the pars plana. tmpaxzxjjyw_mondo_relaxed.owl chronic cyclitis|peripheral uveoretinitis|IU|intermediate uveitis|pars planitis|intermediate uveitis (disease) intermediate uveitis (disease) EFO:1000986|UMLS:C0042166|HP:0012124|DOID:12732|ICD10:H30.2|Orphanet:279914|NCIT:C35110|SCTID:314429009|MESH:D015867|MedDRA:10022557 owl:Class MONDO:0011044 biolink:NamedThing ectrodactyly of lower limbs, congenital heart defect, and micrognathia tmpaxzxjjyw_mondo_relaxed.owl ectrodactyly of lower limbs, congenital heart defect, and micrognathia MESH:C563344|OMIM:601348|UMLS:C1832441 owl:Class MONDO:0019729 biolink:NamedThing light and heavy chain deposition disease tmpaxzxjjyw_mondo_relaxed.owl LHCDD UMLS:CN206636|ICD10:D89.8|Orphanet:93557 owl:Class MONDO:0000607 biolink:NamedThing primary cutaneous T-cell non-Hodgkin lymphoma A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma. tmpaxzxjjyw_mondo_relaxed.owl T-cell non-Hodgkin's lymphoma of skin|PCTCL|primary cutaneous T-cell non-Hodgkin lymphoma|cutaneous T-cell non-Hodgkin lymphoma|T-cell non-Hodgkin's lymphoma of the skin|cutaneous T-cell non-Hodgkin's lymphoma|cutaneous T-cell lymphoma|cutaneous T cell lymphoma|skin T-cell non-Hodgkin's lymphoma|primary cutaneous T-cell non-Hodgkin's lymphoma|CTCL DOID:0060061|MESH:D016410|ICDO:9709/3|NCIT:C3467|EFO:0002913 owl:Class UBERON:0003257 biolink:NamedThing yolk sac endoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:76863 biolink:NamedThing EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitor An EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor that interferes with the action of any such enzyme using NAD(+) or NADP(+) as acceptor (EC 1.5.1.*). tmpaxzxjjyw_mondo_relaxed.owl EC 1.5.1.* inhibitors|EC 1.5.1.* (oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.5.1.* inhibitor|oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor (EC 1.5.1.*) inhibitor|oxidoreductase acting on donor CH-NH group, NAD(+) or NADP(+) as acceptor (EC 1.5.1.*) inhibitors owl:Class ECTO:4000026 biolink:NamedThing exposure to decreased pressure A exposure event involving the interaction of an exposure receptor to decreased pressure. tmpaxzxjjyw_mondo_relaxed.owl decreased pressure exposure owl:Class ECTO:0010001 biolink:NamedThing exposure to qualitative environmental quality A exposure event involving the interaction of an exposure receptor to qualitative. tmpaxzxjjyw_mondo_relaxed.owl qualitative exposure owl:Class CL:0002321 biolink:NamedThing embryonic cell (metazoa) A cell of the embryo. tmpaxzxjjyw_mondo_relaxed.owl FMA:82840|WBbt:0007028|CALOHA:TS-0263|FMA:82841 tmeehan 2010-09-15T03:39:21Z cell owl:Class MONDO:0018087 biolink:NamedThing viral hemorrhagic fever A viral infectious disease caused by RNA viruses in the Arenaviridae, Bunyaviridae, Filoviridae, or Flaviviridae family, and characterized by a severe multisystem syndrome, with damage to the vascular system and hemorrhaging. tmpaxzxjjyw_mondo_relaxed.owl haemorrhagic fevers, viral|viral haemorrhagic fever|haemorrhagic fever|hemorrhagic fevers|hemorrhagic fever|VHFs|VHF UMLS:C0282687|SCTID:240523007|Orphanet:341|GARD:0005494|UMLS:CN204409|UMLS:C0019104|MESH:D006482|NCIT:C36170 https://rarediseases.info.nih.gov/diseases/5494/viral-hemorrhagic-fever owl:Class GO:0048817 biolink:NamedThing negative regulation of hair follicle maturation Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle maturation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of hair follicle maturation|down regulation of hair follicle maturation|inhibition of hair follicle maturation|down-regulation of hair follicle maturation owl:Class HGNC:6938 biolink:NamedThing CHST6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015241 biolink:NamedThing arthrogryposis-like syndrome Arthrogryposis-like syndrome, also known as Kuskokwim disease, is a very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested. tmpaxzxjjyw_mondo_relaxed.owl Kuskokwim disease|arthrogryposis like disorder|Kuskokwim syndrome SCTID:702447002|GARD:0000783|GARD:0003150|Orphanet:1149|ICD9:719.89 https://rarediseases.info.nih.gov/diseases/783/arthrogryposis-like-disorder owl:Class MONDO:0005618 biolink:NamedThing anxiety disorder A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety. tmpaxzxjjyw_mondo_relaxed.owl anxiety disorder|anxiety state|anxiety ICD10:F41.9|MESH:D001008|DOID:2030|EFO:0006788|SCTID:197480006|NCIT:C2878|ICD9:300.09|OMIM:607834 owl:Class HP:0008063 biolink:NamedThing Aplasia/Hypoplasia of the lens Absence or underdevelopment of the lens. tmpaxzxjjyw_mondo_relaxed.owl Absent/underdeveloped lens|Absent/small lens UMLS:C4024738 peter 2008-04-02T03:33:00Z human_phenotype owl:Class MONDO:0024523 biolink:NamedThing aortic valve disease 1 Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene. tmpaxzxjjyw_mondo_relaxed.owl aortic valve disease caused by mutation in Notch1|aortic valve disease|aortic valve disease 1|aortic stenosis, calcific|bicuspid aortic valve|Notch1 aortic valve disease|AOVD1|NOTCH1 aortic valve disease|aortic valve, calcification of|aortic valve, bicuspid|aortic valve disease caused by mutation in NOTCH1 DOID:0080333|UMLS:C3887892|OMIM:109730|UMLS:C1260873|Orphanet:402075 owl:Class MONDO:0060568 biolink:NamedThing Pilarowski-Bjornsson syndrome tmpaxzxjjyw_mondo_relaxed.owl developmental delay and speech apraxia with or without seizures|Pilarowski-Bjornsson syndrome|PILBOS OMIM:617682|Orphanet:529965|UMLS:C4540131 owl:Class MONDO:0004293 biolink:NamedThing supraglottis squamous cell carcinoma A squamous cell carcinoma of the larynx that arises from the supraglottic area. Signs and symptoms include dysphagia, a sensation of foreign body in the throat, and hemoptysis. It spreads to the space anterior to the epiglottis, pyriform sinus, and base of the tongue. tmpaxzxjjyw_mondo_relaxed.owl epidermoid carcinoma of the supraglottis|squamous cell carcinoma of supraglottis|supraglottis squamous cell carcinoma|supraglottic part of larynx squamous cell carcinoma|supraglottic squamous cell carcinoma|squamous cell carcinoma of the supraglottis|supraglottis epidermoid carcinoma|epidermoid carcinoma of supraglottis|supraglottic epidermoid carcinoma DOID:7587|UMLS:C0749163|NCIT:C4945 owl:Class HP:0001103 biolink:NamedThing Abnormal macular morphology A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the macula|Macula abnormality|Macular abnormality UMLS:C0730362|SNOMEDCT_US:312999006 The term macula derives from the presence of the xanthophyll pigments, lutein and zeaxanthin, in a region five to six millimetres in diameter at the posterior pole of the eye, appearing as a yellow spot (macula lutea), when viewed in red-free light. human_phenotype owl:Class CHEBI:49104 biolink:NamedThing heteroarenecarbaldehyde An aldehyde in which a formyl group is located on a heteroarene. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:13643 biolink:NamedThing glycol A diol in which the two hydroxy groups are on different carbon atoms, usually but not necessarily adjacent. tmpaxzxjjyw_mondo_relaxed.owl Glykol|glycols owl:Class CHEBI:35554 biolink:NamedThing cardiovascular drug A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume. tmpaxzxjjyw_mondo_relaxed.owl cardiovascular drugs|cardiovascular agent owl:Class MONDO:0004862 biolink:NamedThing vitreous abscess tmpaxzxjjyw_mondo_relaxed.owl ICD9:360.04|UMLS:C0042904|DOID:9723|SCTID:48142003 owl:Class MONDO:0004863 biolink:NamedThing purulent endophthalmitis tmpaxzxjjyw_mondo_relaxed.owl SCTID:41720003|ICD10:H44.00|ICD10:H44.0|DOID:9724|ICD9:360.0|UMLS:C0259800|ICD9:360.00 owl:Class MONDO:0006671 biolink:NamedThing Bacteroides infectious disease Infections with bacteria of the genus bacteroides. tmpaxzxjjyw_mondo_relaxed.owl infection caused by Bacteroides|infection, Bacteroides|Bacteroides infection|infections, Bacteroides|Bacteroides disease or disorder|Bacteroides caused disease or disorder|infection due to Bacteroides UMLS:C0004669|SCTID:2918000|MESH:D001442|ICD9:041.84|EFO:1000832 owl:Class HGNC:16472 biolink:NamedThing SLC45A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018135 biolink:NamedThing oculocutaneous albinism type 1 Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). tmpaxzxjjyw_mondo_relaxed.owl oculocutaneous albinism type 1|ATN|oculocutaneous albinism, tyrosinase negative|OCA1 GARD:0004037|Orphanet:352731|UMLS:CN119529|SCTID:765146000|ICD10:E70.3|OMIM:203100|OMIM:606952 owl:Class MONDO:0015757 biolink:NamedThing lymphoid hemopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:171898 owl:Class CL:0000234 biolink:NamedThing phagocyte Any cell capable of ingesting particulate matter via phagocytosis. tmpaxzxjjyw_mondo_relaxed.owl BTO:0001044|FMA:83806 cell owl:Class UBERON:0015249 biolink:NamedThing digit skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016883 biolink:NamedThing partial deletion of the short arm of chromosome 1 Chromosome 1p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 1p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl partial deletion of the short arm of chromosome type 1|monosomy 1p|del(1p)|1p monosomy|partial monosomy of chromosome 1p|1p deletion|chromosome 1p deletion|partial monosomy 1p|partial monosomy of the short arm of chromosome 1|deletion 1p|partial deletion of chromosome 1p|loss of chromosome 1p MESH:C535591|Orphanet:261857|UMLS:C0795796|GARD:0003730|NCIT:C36501|ICD10:Q93.5 owl:Class MONDO:0001245 biolink:NamedThing microcytic anemia Anemia in which the red blood cell volume is decreased. tmpaxzxjjyw_mondo_relaxed.owl SCTID:234349007|HP:0001935|NCIT:C35141|DOID:11252|MESH:C562385|OMIM:206200 owl:Class MONDO:0016715 biolink:NamedThing ependymoblastoma Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl ependymoblastoma|embryonal tumor with Multilayered Rosettes|neuroectodermal tumors primitive|ETANTR|ETMR|embryonal tumor with abundant neuropil and true rosettes|embryonal tumor with Multilayered Rosettes with C19MC amplification|embryonal tumor with abundant neuropil and true Rosettes|embryonal tumor with Multilayered Rosettes, C19MC-altered|ETMR, C19MC-altered UMLS:C0700367|ONCOTREE:ETANTR|DOID:4794|SCTID:715901002|GARD:0006352|Orphanet:251880|NCIT:C4915|ICD10:C71.9|MedDRA:10014966|DOID:0080903 owl:Class MONDO:0019677 biolink:NamedThing brachydactyly type E Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short. tmpaxzxjjyw_mondo_relaxed.owl type E brachydactyly OMIM:613382|OMIM:113300|Orphanet:93387|GARD:0000987|ICD10:Q73.8 owl:Class GO:0051341 biolink:NamedThing regulation of oxidoreductase activity Any process that modulates the frequency, rate or extent of oxidoreductase activity, the catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase regulator owl:Class MONDO:0007855 biolink:NamedThing keratosis, familial actinic tmpaxzxjjyw_mondo_relaxed.owl keratosis, familial actinic OMIM:148390|MESH:C567190|UMLS:C2675099 owl:Class MONDO:0001299 biolink:NamedThing diabetic autonomic neuropathy Autonomic neuropathy that is caused by diabetes mellitus. tmpaxzxjjyw_mondo_relaxed.owl SCTID:50620007|NCIT:C27068|ICD9:337.1|MESH:D003929|UMLS:C0271686|DOID:11503 owl:Class MONDO:0006626 biolink:NamedThing diabetic neuropathy A chronic, pathological complication associated with diabetes mellitus, where nerve damages are incurred due to diabetic microvascular injury involving small blood vessels that supply these nerves, resulting in peripheral and/or autonomic nerve dysfunction. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000783|NCIT:C26748|MESH:D003929|ICD9:250.6|UMLS:C0011882|SCTID:230572002|DOID:9743 owl:Class HP:0002686 biolink:NamedThing Prenatal maternal abnormality tmpaxzxjjyw_mondo_relaxed.owl Maternal health problem UMLS:C4025690 human_phenotype owl:Class HP:0001197 biolink:NamedThing Abnormality of prenatal development or birth An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of prenatal development or birth UMLS:C4025797 Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. human_phenotype owl:Class HGNC:17412 biolink:NamedThing CLCF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000850 biolink:NamedThing negative regulation of glucocorticoid secretion Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014714 biolink:NamedThing progressive microcephaly-seizures-cortical blindness-developmental delay syndrome Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal. tmpaxzxjjyw_mondo_relaxed.owl seizures, cortical blindness, microcephaly syndrome|SCBMS|seizures, cortical blindness, and microcephaly syndrome Orphanet:477814|OMIM:616632|UMLS:C4225261 owl:Class MONDO:0015766 biolink:NamedThing cholera Cholera is an infectious disease, caused by intestinal infection with Vibrio cholerae, characterized by massive watery diarrhea and severe dehydration that can lead to shock and death if left untreated. tmpaxzxjjyw_mondo_relaxed.owl Vibrio cholerae caused disease or disorder|Vibrio cholerae disease or disorder|cholera - Vibrio cholerae|Vibrio cholerae infection|cholera due to Vibrio cholerae|Vibrio cholerae|Vibrio cholerae infectious disease ICD10:A00.9|Orphanet:173|ICD10:A00|DOID:1498|ICD9:001|ICD10:A00.1|ICD9:001.9|UMLS:C0008354|SCTID:63650001|MedDRA:10008631|GARD:0006043|MESH:D002771|ICD9:001.0|ICD10:A00.0 https://rarediseases.info.nih.gov/diseases/6043/cholera owl:Class HGNC:29679 biolink:NamedThing PAM16 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032886 biolink:NamedThing regulation of microtubule-based process Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006915 biolink:NamedThing stratified squamous epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903828 biolink:NamedThing negative regulation of cellular protein localization Any process that stops, prevents or reduces the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of cellular protein localisation|down-regulation of channel localizer activity|down regulation of cellular protein localization|negative regulation of cellular protein localisation|downregulation of cellular protein localisation|negative regulation of channel localizer activity|downregulation of cellular protein localization|inhibition of cellular protein localization|down regulation of channel localizer activity|downregulation of channel localizer activity|inhibition of channel localizer activity|inhibition of cellular protein localisation|down-regulation of cellular protein localization|down regulation of cellular protein localisation owl:Class MONDO:0018627 biolink:NamedThing ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN237670|Orphanet:443287 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: ACTH-independent Cushing syndrome' MONDO_0020529 owl:Class MONDO:0020529 biolink:NamedThing ACTH-independent Cushing syndrome Adrenocorticotropic hormone (ACTH) independent Cushing syndrome is a form of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma: 55-60%) or malignant (adrenocortical carcinoma: 35-40 %) adrenocortical tumor or by bilateral adrenal secretion by macronodular adrenal hyperplasia (AIMAH), as an isolated disease or as part of McCune-Albright syndrome (MAS), or by primary pigmented nodular adrenocortical disease (PPNAD), as an isolated disease or as part of Carney complex (CNC). tmpaxzxjjyw_mondo_relaxed.owl adrenocorticotropic hormone-independent Cushing syndrome|corticotropin-independent Cushing syndrome|adrenal Cushing syndrome Orphanet:99893|ICD10:E24.8|UMLS:CN207429 owl:Class MONDO:0003001 biolink:NamedThing seminoma A radiosensitive malignant germ cell tumor found in the testis (especially undescended), and extragonadal sites (anterior mediastinum and pineal gland). It is characterized by the presence of uniform cells with clear or dense cytoplasm which contains glycogen, and by a large nucleus which contains one or more nucleoli. The neoplastic germ cells form aggregates separated by fibrous septa. The fibrous septa contain chronic inflammatory cells, mainly lymphocytes. tmpaxzxjjyw_mondo_relaxed.owl seminoma, pure|seminoma|seminoma, malignant ICDO:9061/3|OMIM:273300|DOID:4440|NCIT:C9309|MESH:D018239|SCTID:255107005|SCTID:443675005|NCIT:C7328|ONCOTREE:SEM|ICD9:186.9 owl:Class HGNC:20859 biolink:NamedThing SLC39A13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000782 biolink:NamedThing myeloid dendritic cell A dendritic cell of the myeloid lineage. tmpaxzxjjyw_mondo_relaxed.owl interdigitating cell|CD11c+CD123- DC|mDC|veiled cell BTO:0004721 These cells are CD1a-negative, CD1b-positive, CD11a-positive, CD11c-positive, CD13-positive, CD14-negative, CD20-negative, CD21-negative, CD33-positive, CD40-negative, CD50-positive, CD54-positive, CD58-positive, CD68-negative, CD80-negative, CD83-negative, CD85j-positive, CD86-positive, CD89-negative, CD95-positive, CD120a-negative, CD120b-positive, CD123-negative, CD178-negative, CD206-negative, CD207-negative, CD209-negative, and TNF-alpha-negative. Upon TLR stimulation, they are capable of producing high levels of TNF-alpha, IL-6, CXCL8 (IL-8). cell owl:Class HP:0031192 biolink:NamedThing Abnormal morphology of left ventricular trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the left ventricle of the heart (cardiac trabeculae, trabeculae carneae). tmpaxzxjjyw_mondo_relaxed.owl 2017-06-24 14:10:09+00:00 peter human_phenotype owl:Class HP:0030681 biolink:NamedThing Abnormal morphology of myocardial trabeculae Any structural anomaly of the muscular columns which project from the inner surface of the right and left ventricles of the heart (cardiac trabeculae, trabeculae carneae). tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4073289 human_phenotype owl:Class CHEBI:38166 biolink:NamedThing organic heteropolycyclic compound tmpaxzxjjyw_mondo_relaxed.owl organic heteropolycyclic compounds owl:Class MONDO:0041052 biolink:NamedThing postherpetic neuralgia tmpaxzxjjyw_mondo_relaxed.owl PHN - post-herpetic neuralgia|post-zoster neuralgia|postherpetic neuralgia SCTID:2177002|UMLS:C0032768|Orphanet:466673 owl:Class MONDO:0021677 biolink:NamedThing post-infectious neuralgia tmpaxzxjjyw_mondo_relaxed.owl postinfectious neuralgia ICD9:729.2|SCTID:17111003|UMLS:C0032772 owl:Class MONDO:0035375 biolink:NamedThing multisystem inflammatory syndrome in children and adults tmpaxzxjjyw_mondo_relaxed.owl MIS-C/A Orphanet:598363|ICD10:U10.9 owl:Class MONDO:0009638 biolink:NamedThing mitochondrial myopathy with a defect in mitochondrial-protein transport tmpaxzxjjyw_mondo_relaxed.owl mitochondrial myopathy with a defect in mitochondrial-protein transport MESH:C565376|UMLS:C1855034|OMIM:251945 owl:Class MONDO:0021303 biolink:NamedThing adenoma of small intestine A adenoma that involves the small intestine. tmpaxzxjjyw_mondo_relaxed.owl adenoma of the small intestine|adenoma of the small bowel|adenoma of small bowel|small intestine adenoma|small intestinal adenoma|small bowel adenoma SCTID:399422005|NCIT:C5340|UMLS:C1302392 owl:Class MONDO:0017288 biolink:NamedThing DICER1 syndrome A rare, autosomal dominant inherited syndrome caused by mutations in the DICER1 gene. People with this syndrome are at an increased risk of developing pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumor of the ovary, and multinodular goiter. tmpaxzxjjyw_mondo_relaxed.owl PPB familial tumor susceptibility syndrome|pleuro-pulmonary blastoma familial tumor susceptibility syndrome|DICER1-related pleuropulmonary blastoma cancer predisposition syndrome|DICER1 syndrome|PPBFTDS|pleuropulmonary blastoma familial tumor susceptibility syndrome|DICER1-related pleuropulmonary blastoma UMLS:C3839822|ICD9:199.1|OMIM:601200|SCTID:702411003|EFO:0009068|Orphanet:284343|NCIT:C123317|GARD:0010734|UMLS:CN202862|UMLS:CN240512 https://rarediseases.info.nih.gov/diseases/10734/dicer1-related-pleuropulmonary-blastoma-cancer-predisposition-syndrome owl:Class MONDO:0014469 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 103 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 103|autosomal recessive nonsyndromic deafness caused by mutation in CLIC5|autosomal recessive deafness 103|autosomal recessive nonsyndromic deafness 103|CLIC5 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 103|DFNB103|deafness, autosomal recessive 103 OMIM:616042|ICD10:H90.3|DOID:0110464|UMLS:C4015050 owl:Class MONDO:0006428 biolink:NamedThing splenic diffuse large B-cell lymphoma A diffuse large B-cell lymphoma occurring in the spleen. tmpaxzxjjyw_mondo_relaxed.owl splenic diffuse large B-cell lymphoma|primary splenic diffuse large B-cell lymphoma UMLS:C2018774|EFO:1000547|NCIT:C7308 owl:Class ENVO:01001501 biolink:NamedThing radiation from a manufactured product An electromagnetic radiation process during which electromagnetic waves or their quanta are emitted from a manufactured product. tmpaxzxjjyw_mondo_relaxed.owl artificial radiation|anthropogenic radiation owl:Class ENVO:01001026 biolink:NamedThing electromagnetic radiation A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy. tmpaxzxjjyw_mondo_relaxed.owl EM radiation owl:Class HP:0100737 biolink:NamedThing Abnormal hard palate morphology tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the secondary palate|Abnormality of the hard palate UMLS:C4021983 doelkens 2011-06-06T05:42:10Z human_phenotype owl:Class HP:0000174 biolink:NamedThing Abnormal palate morphology Any abnormality of the palate, i.e., of roof of the mouth. tmpaxzxjjyw_mondo_relaxed.owl Palate abnormality|Palatal anomaly|Abnormality of the roof of the mouth|Abnormality of the palate UMLS:C4021815 human_phenotype owl:Class MONDO:0007774 biolink:NamedThing hyperreflexia An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes. tmpaxzxjjyw_mondo_relaxed.owl HRX|hyperreflexia (disease)|hyperreflexia hyperreflexia (disease) MESH:D012021|HP:0001347|OMIM:145290 owl:Class MONDO:0011926 biolink:NamedThing psoriasis 9, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl psoriasis 9, susceptibility to|PSORS9 OMIM:607857|DOID:0111284 owl:Class MONDO:0006093 biolink:NamedThing ascending colon neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the ascending colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpaxzxjjyw_mondo_relaxed.owl ascending colon neuroendocrine tumor G1|carcinoid tumor of the ascending colon|ascending colon neuroendocrine neoplasm G1|ascending colon carcinoid tumor (disease)|ascending colon NET G1|ascending colon neuroendocrine tumor, well differentiated, low grade|grade 1 neuroendocrine neoplasm of ascending colon|ascending colon carcinoid tumor|carcinoid tumor of ascending colon NCIT:C6427|UMLS:C1332340|EFO:1000094 owl:Class CHEBI:27869 biolink:NamedThing chloroacetic acid A chlorocarboxylic acid that is acetic acid carrying a 2-chloro substituent. tmpaxzxjjyw_mondo_relaxed.owl Acide chloroacetique|alpha-chloro-acetic acid|chloroacetic acid|2-chloroacetic acid|monochloroethanoic acid|Acide monochloracetique|Monochloressigsaeure|CAA|chloracetic acid|2-chloro-ethanoic acid|Acide chloracetique|2-chloro-acetic acid|Chloroacetic acid|monochloroacetic acid|Chloroethanoic acid owl:Class HGNC:13723 biolink:NamedThing CTCF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011586 biolink:NamedThing otosclerosis 2 tmpaxzxjjyw_mondo_relaxed.owl otosclerosis 2|OTSC2 UMLS:C1854022|MESH:C565302|OMIM:605727 owl:Class NCBITaxon:5759 biolink:NamedThing Entamoeba histolytica tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5758 biolink:NamedThing Entamoeba tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014122 biolink:NamedThing myofibromatosis, infantile, 2 Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene. tmpaxzxjjyw_mondo_relaxed.owl myofibromatosis, infantile, 2|myofibromatosis, infantile, type 2|IMF2|NOTCH3 myofibromatosis|myofibromatosis caused by mutation in NOTCH3 Orphanet:2591|OMIM:615293|UMLS:C3809084 owl:Class HGNC:3006 biolink:NamedThing DPM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003173 biolink:NamedThing brain stem astrocytic neoplasm An astrocytoma that arises from the brain stem. tmpaxzxjjyw_mondo_relaxed.owl brainstem astrocytoma (excluding glioblastoma)|brainstem astrocytoma|brain stem astrocytoma|astrocytoma (excluding glioblastoma) of brainstem NCIT:C7445|SCTID:107581000119103|DOID:4860|UMLS:C1332608 owl:Class MONDO:0032797 biolink:NamedThing myopathy, congenital, with tremor tmpaxzxjjyw_mondo_relaxed.owl Myogenic Tremor|MYOTREM|MYOPATHY, CONGENITAL, WITH TREMOR OMIM:618524 owl:Class MONDO:0010298 biolink:NamedThing Lesch-Nyhan syndrome Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems. tmpaxzxjjyw_mondo_relaxed.owl Lesch Nyhan syndrome|X-linked hyperuricemia (disorder) [ambiguous]|hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])|Lesch - Nyhan syndrome|Lesch-Nyhan syndrome, neurologic variant|HPRT deficiency, neurologic variant|complete hypoxanthine-guanine phosphoribosyltransferase deficiency|hypoxanthine guanine phospho-ribosyltransferase 1 deficiency|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|HPRT deficiency, complete|deficiency of IMP pyrophosphorylase|hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV|Hprt1 deficiency|LNS|HG-PRT deficiency|Lesch Nyhan disease|HPRT complete deficiency|Lesch-Nyhan syndrome|HPRT deficiency|hypoxanthine guanine phosphoribosyltransferase complete deficiency|X-linked hyperuricemia|HPRT deficiency grade IV UMLS:CN205196|ICD10:E79.1|OMIM:300322|Orphanet:510|SCTID:10406007|GARD:0007226|UMLS:C0023374|MESH:D007926|SCTID:124275001|ICD9:277.2|MedDRA:10057589|OMIM:308950|DOID:1919|NCIT:C61255 owl:Class MONDO:0016088 biolink:NamedThing hypoxanthine-guanine phosphoribosyltransferase deficiency Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency. tmpaxzxjjyw_mondo_relaxed.owl HPRT1 deficiency|hypoxanthine-guanine phosphoribosyltransferase 1 deficiency|HPRT deficiency Orphanet:206428|GARD:0002943|ICD9:277.6|ICD10:E79.8|SCTID:124275001|UMLS:C0023374 owl:Class HGNC:8768 biolink:NamedThing AIFM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021642 biolink:NamedThing vulval varices A varicose disease that involves the mammalian vulva. tmpaxzxjjyw_mondo_relaxed.owl mammalian vulva varicose disease|varicose disease of mammalian vulva SCTID:48868008|UMLS:C0155796|HP:0100677|ICD9:456.6|ICD10:I86.3 owl:Class CHEBI:33583 biolink:NamedThing noble gas molecular entity A main group molecular entity containing one or more atoms of any noble gas. tmpaxzxjjyw_mondo_relaxed.owl noble gas molecular entities|noble gas compounds|noble gas molecular entity owl:Class MONDO:0043797 biolink:NamedThing spinal cord injury Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.). tmpaxzxjjyw_mondo_relaxed.owl myelopathy, traumatic|cord Lacerations, spinal|transection, spinal cord|spinal cord contusion|myelopathy, post-traumatic|spinal cord trauma|spinal cord Transections|injury, spinal cord|cord contusion, spinal|Injuries, spinal cord|traumatic myelopathy|post-traumatic Myelopathies|spinal cord Traumas|laceration, spinal cord|post traumatic myelopathy|cord Contusions, spinal|spinal cord Lacerations|spinal cord laceration|injury of spinal cord|spinal cord transection|Lacerations, spinal cord|cord transection, spinal|cord injury, spinal|Traumas, spinal cord|Myelopathies, post-traumatic|cord Traumas, spinal|cord trauma, spinal|contusion, spinal cord|Transections, spinal cord|post-traumatic myelopathy|Myelopathies, traumatic|cord laceration, spinal|cord Injuries, spinal|cord Transections, spinal|trauma, spinal cord|spinal cord Contusions|traumatic Myelopathies|Contusions, spinal cord|spinal cord injury MESH:D013119|SCTID:90584004|Orphanet:90058|EFO:1001919 owl:Class UBERON:0006606 biolink:NamedThing mandibular symphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002216 biolink:NamedThing symphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001427 biolink:NamedThing Dieulafoy lesion Dieulafoy lesion is an abnormally large artery (a vessel that takes blood from the heart to other areas of the body) in the lining of the gastrointestinal system. It is most common in the stomach but can occur in other locations, including the small and large intestine. Dieulafoy lesions can cause severe and sudden gastrointestinal bleeding. The condition occurs in people of all ages, but is more common in males than in females.Depending upon the site of the bleeding, symptoms may include vomiting up blood (hematemesis); sticky, dark-colored stools (melena); passage of fresh blood in the stool (hematochezia); or coughing up blood (hemoptysis). Some affected individuals may only present with blood pressure problems. Treatment may include endoscopic and/or surgical techniques. Though treatment can be effective, Dieulafoy lesions and the associated blood loss can be fatal, especially if not diagnosed and treated promptly. tmpaxzxjjyw_mondo_relaxed.owl Dieulafoy's lesion|Dieulafoy lesion (hemorrhagic) of intestine|Dieulafoy lesion (hemorrhagic) of stomach and duodenum|Dieulafoy disease|Exulceratio simplex Dieulafoy UMLS:C0341217|SCTID:109558001|GARD:0010930|DOID:12070|ICD10:K31.82|ICD9:537.84 https://rarediseases.info.nih.gov/diseases/10930/dieulafoy-lesion owl:Class MONDO:0014094 biolink:NamedThing severe congenital hypochromic anemia with ringed sideroblasts STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels. tmpaxzxjjyw_mondo_relaxed.owl anemia, hypochromic microcytic, with iron overload type 2|anemia, hypochromic microcytic, with iron overload 2|AHMIO2|severe congenital hypochromic sideroblastic anemia OMIM:615234|SCTID:725463007|UMLS:C4511137|UMLS:C3808920|ICD10:D64.0|Orphanet:300298 owl:Class MONDO:0013280 biolink:NamedThing myxoid liposarcoma A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma. tmpaxzxjjyw_mondo_relaxed.owl myxoid liposarcoma (morphologic abnormality)|mixed-type liposarcoma|Myxoliposarcoma|myxoid/round cell liposarcoma|myxoid liposarcoma DOID:5709|NCIT:C27781|OMIM:613488|Orphanet:69078|SCTID:404069006|DOID:5363|ICD9:171.9|MESH:D018208|GARD:0007157|Orphanet:99967|ICDO:8852/3|EFO:0000613 MONDO:0003597 owl:Class MONDO:0013783 biolink:NamedThing microphthalmia, isolated, with coloboma 7 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene. tmpaxzxjjyw_mondo_relaxed.owl ABCB6 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma 7|MCOPCB7|microphthalmia, isolated, with coloboma caused by mutation in ABCB6|microphthalmia, isolated, with coloboma type 7 OMIM:614497|Orphanet:98938|UMLS:C3281027 owl:Class MONDO:0013038 biolink:NamedThing CLOVES syndrome CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi. tmpaxzxjjyw_mondo_relaxed.owl congenital lipomatous overgrowth, vascular malformations, Epidermal nevi, and skeletal/spinal abnormalities|congenital lipomatous overgrowth, vascular malformations, and epidermal nevi|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|CLOVES syndrome|congenital lipomatous overgrowth, vascular malformations, and EPIDERMAL nevi|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|CLOVE syndrome|congenital lipomatous overgrowth - vascular malformation - epidermal nevi SCTID:719475006|OMIM:612918|UMLS:C2752042|GARD:0010939|Orphanet:140944|MESH:C567863|DOID:0080351|GARD:10939|ICD10:Q87.3 owl:Class MONDO:0008970 biolink:NamedThing chondrodysplasia Blomstrand type Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality. tmpaxzxjjyw_mondo_relaxed.owl Blomstrand chondrodysplasia|Blomstrand lethal chondrodysplasia|BOCD|Blomstrand lethal osteochondrodysplasia|BLC|chondrodysplasia, Blomstrand type|Blomstrand's lethal chondrodysplasia|Blomstrand type chondrodysplasia|Blomstrand osteochondrodysplasia Orphanet:50945|OMIM:215045|MESH:C537914|NCIT:C131420|ICD10:Q78.8|UMLS:C1859148|DOID:0060387|GARD:0000914 https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type owl:Class MONDO:0002940 biolink:NamedThing anal margin basal cell carcinoma A basal cell carcinoma arising from the perianal skin. Local excision is the treatment of choice. Metastases are extremely rare. tmpaxzxjjyw_mondo_relaxed.owl skin basal cell carcinoma of perianal skin|basal cell carcinoma of anal margin|basal cell carcinoma of the anal margin|anal margin basal cell carcinoma|perianal skin skin basal cell carcinoma|basal cell carcinoma of the perianal skin|basal cell carcinoma of perianal skin|perianal skin basal cell carcinoma ICD10:C44.510|DOID:4283|NCIT:C7473|UMLS:C1332269 owl:Class MONDO:0001470 biolink:NamedThing anal margin squamous cell carcinoma A squamous cell carcinoma arising from the perianal skin. tmpaxzxjjyw_mondo_relaxed.owl anal margin squamous cell carcinoma|squamous cell carcinoma of the anal margin|squamous cell carcinoma of anal margin|perianal skin squamous cell carcinoma SCTID:255084004|ICD10:C44.520|NCIT:C6925|ICD9:173.5|DOID:12239|UMLS:C1412037 owl:Class MONDO:0060510 biolink:NamedThing Cohen-Gibson syndrome tmpaxzxjjyw_mondo_relaxed.owl Cohen-Gibson syndrome|COGIS UMLS:C4479654|OMIM:617561 owl:Class HP:0012614 biolink:NamedThing Abnormal urine cytology An anomalous finding in the examination of the urine for cells. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:310439007|UMLS:C0587955 peter 2014-01-17T12:01:16Z human_phenotype owl:Class UBERON:0003825 biolink:NamedThing nerve of abdominal segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2950 biolink:NamedThing DNAH5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:139 biolink:NamedThing Borreliella burgdorferi tmpaxzxjjyw_mondo_relaxed.owl Borrelia burgdorferi|Lyme disease spirochete PMID:7981102|PMID:9336916|PMID:1380285|PMID:1503971|PMID:24744012|PMID:7699027|PMID:8995796|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:64895 biolink:NamedThing Borreliella tmpaxzxjjyw_mondo_relaxed.owl Borrelia burgdorferi sensu lato|Lyme Disease Borrelia|Borrelia burgdorferi group PMID:16585709|PMID:8995795|PMID:9336916|PMID:31454394|PMID:31722850|PMID:31836459|PMID:27930271|PMID:8934900|PMID:24744012|PMID:28141502|PMID:8573491|GC_ID:11|PMID:30154058|PMID:32320380|PMID:10515907|PMID:30586413|PMID:10758897|PMID:7981102 NCBITaxon:1618316 ncbi_taxonomy owl:Class MONDO:0036688 biolink:NamedThing rhabdomyoma A benign mesenchymal tumor arising from skeletal or cardiac muscle. tmpaxzxjjyw_mondo_relaxed.owl rhabdomyoma|Rhabdomyomatous neoplasm|rhabdomyoma, benign UMLS:C0035411|NCIT:C3358|ICDO:8900/0|MESH:D012207|SCTID:402877008 owl:Class MONDO:0100224 biolink:NamedThing mitochondrial complex I deficiency, nuclear type 1 tmpaxzxjjyw_mondo_relaxed.owl mitochondrial complex 1 deficiency|NADH-coenzyme Q reductase deficiency|NADH:Q(1) oxidoreductase deficiency|mitochondrial complex I deficiency, nuclear type 1|mitochondrial NADH dehydrogenase component of Complex I, deficiency of|mitochondrial complex I deficiency|MC1DN1 UMLS:C1838979|MESH:C537475|Orphanet:2609|GARD:0003908|UMLS:C2936907|OMIM:252010|ICD10:G71.3|DOID:0060536 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0099094 biolink:NamedThing ligand-gated cation channel activity Enables the transmembrane transfer of an inorganic cation by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008592 biolink:NamedThing tricho-dento-osseous syndrome Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull. tmpaxzxjjyw_mondo_relaxed.owl TDO syndrome 1|TDO syndrome|TDO|enamel hypoplasia and hypocalcification with associated strikingly curly hair|TRICHODENTOOSSEOUS syndrome|kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails|Tricho-dento-osseous syndrome 1 GARD:0007799|SCTID:38993008|MESH:C536549|OMIM:190320|ICD10:Q82.4|DOID:0111565|Orphanet:3352|ICD9:759.89|GARD:0005252 https://rarediseases.info.nih.gov/diseases/7799/tricho-dento-osseous-syndrome owl:Class MONDO:0032705 biolink:NamedThing neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION|MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome|NEDMEHM OMIM:618367|Orphanet:597874 https://github.com/monarch-initiative/mondo/issues/3542 owl:Class CHEBI:25384 biolink:NamedThing monocarboxylic acid An oxoacid containing a single carboxy group. tmpaxzxjjyw_mondo_relaxed.owl monocarboxylic acids owl:Class MONDO:0020582 biolink:NamedThing benign uterine ligament neoplasm A non-metastasizing neoplasm that arises from the uterine ligament. tmpaxzxjjyw_mondo_relaxed.owl benign uterine ligament neoplasm NCIT:C126493|UMLS:C0865093 owl:Class MONDO:0009505 biolink:NamedThing lactic aciduria due to D-lactic acid tmpaxzxjjyw_mondo_relaxed.owl lactic aciduria due to d-lactic acid UMLS:C1855552|OMIM:245450|MESH:C565446 owl:Class MONDO:0018239 biolink:NamedThing aggrecan-related bone disorder tmpaxzxjjyw_mondo_relaxed.owl Orphanet:364817|UMLS:CN227289 owl:Class HGNC:7684 biolink:NamedThing NDUFA10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7481 biolink:NamedThing MT-TF tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005492 biolink:NamedThing hyaloid vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21558 biolink:NamedThing RSPH4A tmpaxzxjjyw_mondo_relaxed.owl owl:Class NBO:0000317 biolink:NamedThing vestibular behavior "Behavior related to the awareness of body balance and movement." [MBP:GVG] tmpaxzxjjyw_mondo_relaxed.owl proprioception owl:Class NBO:0000327 biolink:NamedThing somatic sensation related behavior "Behavior related to the sensations arising from the skin and from the muscles, tendons, and joints." [OBP:GVG] tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013106 biolink:NamedThing basal cell carcinoma, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl basal cell carcinoma, susceptibility to, 6|BCC6 UMLS:C2751600|OMIM:613063 owl:Class OBI:0000684 biolink:NamedThing specimen collection objective A objective specification to obtain a material entity for potential use as an input during an investigation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class IAO:0000005 biolink:NamedThing objective specification a directive information entity that describes an intended process endpoint. When part of a plan specification the concretization is realized in a planned process in which the bearer tries to effect the world so that the process endpoint is achieved.|A directive information entity that describes an intended process endpoint. When part of a plan specification the concretization is realized in a planned process in which the bearer tries to effect the world so that the process endpoint is achieved. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009488 biolink:NamedThing keratoconus posticus circumscriptus tmpaxzxjjyw_mondo_relaxed.owl keratoconus posticus circumscriptus|KPC|keratoconus posticus CIRCUMSCRIPTUS|Kpc with associated malformations GARD:0003091|OMIM:244600|UMLS:C1855645 https://rarediseases.info.nih.gov/diseases/3091/keratoconus-posticus-circumscriptus owl:Class MONDO:0013586 biolink:NamedThing Chitotriosidase deficiency tmpaxzxjjyw_mondo_relaxed.owl CHITD|CHITOTRIOSIDASE deficiency|Chitotriosidase deficiency 2022-04-01 OMIM:614122|UMLS:C3279902 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class SO:0000054 biolink:NamedThing aneuploid A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number. tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:1000182 biolink:NamedThing chromosome_number_variation A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number. tmpaxzxjjyw_mondo_relaxed.owl Jannovar:chromosome_number_variation|chromosome number variation owl:Class GO:0051052 biolink:NamedThing regulation of DNA metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving DNA. tmpaxzxjjyw_mondo_relaxed.owl regulation of DNA metabolism owl:Class HGNC:3582 biolink:NamedThing FANCA tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1900073 biolink:NamedThing regulation of neuromuscular synaptic transmission Any process that modulates the frequency, rate or extent of neuromuscular synaptic transmission. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013546 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency nuclear type 2 A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria. tmpaxzxjjyw_mondo_relaxed.owl 3-MGCA type IV (3-MGCA-4) (formerly)|TMEM70-related mitochondrial encephalo-cardio-myopathy|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2|TMEM70 defect|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency|mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency|mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type|mitochondrial complex V (ATP synthase) deficiency, nuclear type 2|encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency|neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency|mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency|MC5DN2 GARD:0012965|DOID:0060331|ICD10:G71.3|MESH:C567528|Orphanet:1194|OMIM:614052|SCTID:718212006 owl:Class MONDO:0017718 biolink:NamedThing mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:309136|UMLS:CN227185 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class NCBITaxon:68459 biolink:NamedThing Giardiinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:6 ncbi_taxonomy owl:Class HP:0000119 biolink:NamedThing Abnormality of the genitourinary system The presence of any abnormality of the genitourinary system. tmpaxzxjjyw_mondo_relaxed.owl Genitourinary abnormality|Genitourinary disease|Abnormality of the GU system|Urogenital anomalies|Genitourinary tract malformation|Genitourinary dysplasia|Urogenital abnormalities|Genitourinary tract anomalies UMLS:C0042063|SNOMEDCT_US:287085006|SNOMEDCT_US:42030000|UMLS:C0080276|UMLS:C4020895|MSH:D014564 HP:0008658|HP:0008713|HP:0008688|HP:0008704 human_phenotype owl:Class MONDO:0000412 biolink:NamedThing neonatal period electroclinical syndrome An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050702 Editor notes: See https://github.com/monarch-initiative/mondo-build/issues/29 owl:Class MONDO:0008025 biolink:NamedThing neuronopathy, distal hereditary motor, type 2A Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB8 gene. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, spinal, 2A|neuropathy, distal hereditary motor, type 2A|neuronopathy, distal hereditary motor caused by mutation in HSPB8|neuronopathy, distal hereditary motor, type IIA|HSPB8 neuronopathy, distal hereditary motor|spinal muscular atrophy, distal, adult, autosomal dominant, 2A|HMN2A|HMN 2A DOID:0111208|Orphanet:139525|OMIM:158590|UMLS:C1834692|MESH:C563561 owl:Class MONDO:0043206 biolink:NamedThing trichostasis spinulosa Trichostasis spinulosa (TS) is a condition where instead of one hair protruding from a hair follicle, a bundle or bush of hair come out of a single follicle. This results in elevated, dark spiny papules on the head, face (usually the nose), and trunk. In this condition, there are numerous tiny open pores filled with multiple tiny short hairs, usually only visible with a magnifying glass. TS usually does not cause problems andmay only be noticed as an incidental finding. The exact cause is unknown. tmpaxzxjjyw_mondo_relaxed.owl elevated dark spiny papules on the face or trunk|trichostasis spinulosa SCTID:21049007|GARD:0005269|MESH:C536558|UMLS:C0263487 owl:Class MONDO:0009513 biolink:NamedThing laryngo-onycho-cutaneous syndrome LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. tmpaxzxjjyw_mondo_relaxed.owl laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome|LARYNGOONYCHOCUTANEOUS syndrome|laryngo-onycho-cutaneous syndrome|Shabbir syndrome|LOCS|LOC syndrome|logic syndrome GARD:0000368|ICD10:Q81.8|UMLS:C1328355|MESH:C537032|OMIM:245660|Orphanet:2407|SCTID:722675000 owl:Class MONDO:0007824 biolink:NamedThing incisors, lower central, absence of tmpaxzxjjyw_mondo_relaxed.owl incisors, lower central, absence of OMIM:147330 owl:Class MONDO:0010858 biolink:NamedThing macrocephaly-spastic paraplegia-dysmorphism syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl macrocephaly with spastic paraplegia and distinctive craniofacial appearance|Fryns macrocephaly UMLS:C1838281|SCTID:716108004|MESH:C563963|ICD10:Q87.8|OMIM:600302|Orphanet:2429 owl:Class MONDO:0011907 biolink:NamedThing acrocapitofemoral dysplasia Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. tmpaxzxjjyw_mondo_relaxed.owl acrocapitofemoral dysplasia|ACFD OMIM:607778|Orphanet:63446|SCTID:720416007|MESH:C564334|ICD10:Q78.8|DOID:0050604|GARD:0010605|UMLS:C1843096 https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia owl:Class MONDO:0020548 biolink:NamedThing ocular pemphigoid Ocular pemphigoid is a rare inflammatory eye disease characterized by sub-epithelial blistering manifesting with bilateral, asymmetrical, chronic or recurrent conjunctivitis and aberrant tissue regeneration leading to progressive conjunctival fibrosis, secondary corneal vascularization and, in some cases, blindness. Patients typically present with conjunctival redness, increased lacrimation, burning and/or foreign body sensation, edema, limbitis and/or varying degrees of ocular pain. Ankyloblepharon may be observed in end stages of the disease. tmpaxzxjjyw_mondo_relaxed.owl ICD10:L12+|Orphanet:99922|ICD10:H13.3*|SCTID:34250006|MedDRA:10067776 owl:Class MONDO:0002582 biolink:NamedThing subacute leukemia A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. tmpaxzxjjyw_mondo_relaxed.owl ICD9:208.20|SCTID:302855005|DOID:3264|UMLS:C0153924|ICD9:208.2 owl:Class MONDO:0013998 biolink:NamedThing MEGF8-related Carpenter syndrome Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene. tmpaxzxjjyw_mondo_relaxed.owl Carpenter syndrome 2|Carpenter syndrome caused by mutation in MEGF8|Carpenter syndrome type 2|CRPT2|CARPENTER syndrome 2|MEGF8 Carpenter syndrome OMIM:614976|UMLS:C3554247|Orphanet:65759 owl:Class MONDO:0002061 biolink:NamedThing intraductal papillary breast neoplasm A benign or malignant papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by epithelial proliferations. This category includes intraductal papilloma and intraductal papillary carcinoma. tmpaxzxjjyw_mondo_relaxed.owl intraductal papillary breast neoplasm DOID:1628|UMLS:C1334252|NCIT:C36090 owl:Class MONDO:0012278 biolink:NamedThing supranuclear palsy, progressive, 2 tmpaxzxjjyw_mondo_relaxed.owl PSNP2|supranuclear palsy, progressive, 2 Orphanet:240071|UMLS:C1836148|OMIM:609454|Orphanet:683|MESH:C563717 owl:Class MONDO:0008015 biolink:NamedThing motion sickness A sensation of discomfort that results from a discordant relationship between visualized movement and any movement sensed by the vestibular system, which is characterized by dizziness, nausea, and vomiting. tmpaxzxjjyw_mondo_relaxed.owl motion sickness|travel sickness UMLS:C0026603|MESH:D009041|NCIT:C34824|ICD10:T75.3|DOID:2951|ICD9:994.6|EFO:0006928|OMIM:158280 owl:Class MONDO:0032746 biolink:NamedThing hydatidiform mole, recurrent, 3 tmpaxzxjjyw_mondo_relaxed.owl HYDM3|HYDATIDIFORM MOLE, RECURRENT, 3 OMIM:618431 owl:Class MONDO:0003469 biolink:NamedThing epithelioid cell synovial sarcoma A synovial sarcoma characterized by the presence of an epithelial cell component only. The epithelial cells are arranged in glandular or papillary structures. tmpaxzxjjyw_mondo_relaxed.owl epithelioid cell sarcoma of the synovium|epithelioid synovial sarcoma|epithelial sarcoma of the synovium|epithelial sarcoma of synovium|synovial sarcoma, epithelioid cell|epithelial synovial sarcoma|synovial sarcoma, epithelioid cell (morphologic abnormality)|epithelioid cell sarcoma of synovium DOID:5494|UMLS:C0334506|NCIT:C4278|ICDO:9042/3 owl:Class GO:0032885 biolink:NamedThing regulation of polysaccharide biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of polysaccharides. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015411 biolink:NamedThing facial cleft A congenital abnormality consisting of an opening or gap in the face, which results from incomplete fusion of one or more of the embryonic facial prominences. tmpaxzxjjyw_mondo_relaxed.owl craniofacial cleft|cleft face|prosoposchisis NCIT:C124510|SCTID:92821006|ICD10:Q18.8|Orphanet:141229 owl:Class UBERON:0008434 biolink:NamedThing cervical vertebral arch tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008922 biolink:NamedThing Sengers syndrome Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. tmpaxzxjjyw_mondo_relaxed.owl cataract and cardiomyopathy|cardiomyopathic mitochondrial DNA depletion syndrome 10|Sengers syndrome|congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome|mitochondrial DNA depletion syndrome 10 (Cardiomyopathic type)|cardiomyopathy and cataract|mitochondrial DNA depletion syndrome 10 UMLS:C1859317|MESH:C538280|OMIM:212350|DOID:0080132|OMIM:615418|SCTID:717812000|GARD:0001142|ICD10:Q87.8|Orphanet:1369 https://rarediseases.info.nih.gov/diseases/1142/sengers-syndrome owl:Class UBERON:0000457 biolink:NamedThing cavernous artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:23162 biolink:NamedThing ALG10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001337 biolink:NamedThing inflamed seborrheic keratosis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0376117|SCTID:442348004|DOID:11685|ICD9:702.11|ICD10:L82.0 owl:Class MONDO:0013049 biolink:NamedThing DPM3-CDG DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl CDGIo|DPM3-CDG|CDG syndrome type Io|Cdg1(Dpm3)|carbohydrate deficient glycoprotein syndrome type Io|CDG-Io|congenital disorder of glycosylation type 1o|DPM3-CDG (CDG-Io)|CDG Io|congenital disorder of glycosylation type Io|congenital disorder of glycosylation, type Io|DG1O|CDG1O GARD:0012395|MESH:C567857|OMIM:612937|Orphanet:263494|SCTID:725044000|ICD10:E77.8|UMLS:C2752007 owl:Class UBERON:0012467 biolink:NamedThing enclosed anatomical space tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006090 biolink:NamedThing pyruvate metabolic process The chemical reactions and pathways involving pyruvate, 2-oxopropanoate. tmpaxzxjjyw_mondo_relaxed.owl pyruvate dehydrogenase bypass|pyruvate metabolism owl:Class MONDO:0017460 biolink:NamedThing syndactyly type 6 Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers. tmpaxzxjjyw_mondo_relaxed.owl mitten hand|unilateral syndactyly of digits 2-5|syndactyly, mitten type Orphanet:295012|UMLS:CN203203|SCTID:763624007|ICD10:Q70.1 owl:Class MONDO:0019530 biolink:NamedThing non-syndromic syndactyly A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly. tmpaxzxjjyw_mondo_relaxed.owl symphalangism|webbing of digits|syndactyly|chromosome 2q35 duplication syndrome|symphalangy|nonsyndromic syndactyly|isolated syndactyly UMLS:C0039075|ICD10:Q70.2|MedDRA:10042778|ICD10:Q70.1|NCIT:C87125|ICD10:Q70.4|ICD10:Q70.9|ICD10:Q70.0|Orphanet:90025|ICD10:Q70.3 Editor note: Orphanet calls this brachydactyly, but this is implicitly the non-syndromic form due to placement in the ORDO hierarchy https://github.com/monarch-initiative/mondo/issues/4051 owl:Class MONDO:0011053 biolink:NamedThing intellectual disability-sparse hair-brachydactyly syndrome Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now. tmpaxzxjjyw_mondo_relaxed.owl sparse hair and mental retardation|intellectual disability-sparse hair-brachydactyly syndrome|sparse hair and intellectual disability|Nicolaides-Baraitser syndrome|SMARCA2-related BAFopathy|NICOLAIDES-Baraitser syndrome|NCBRS|NBs OMIM:601358|Orphanet:3051|UMLS:C1303073|GARD:0000270|MESH:C536116|SCTID:401046009 owl:Class MONDO:0022458 biolink:NamedThing annular constricting bands A syndrome characterized by congenital constriction bands, often deformity of the nails with distally located bands, and commonly a malformation of the hand. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000704 https://rarediseases.info.nih.gov/diseases/704/annular-constricting-bands owl:Class MONDO:0030912 biolink:NamedThing intellectual disability, autosomal dominant 47 tmpaxzxjjyw_mondo_relaxed.owl STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome|mental retardation, autosomal dominant 47|autosomal dominant mental retardation 47|autosomal dominant intellectual disability 47|MRD47|intellectual disability, autosomal dominant 47 Orphanet:502434|OMIM:617635|DOID:0080238|UMLS:CN429988 owl:Class MONDO:0002123 biolink:NamedThing calcinosis Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. tmpaxzxjjyw_mondo_relaxed.owl macrocalcification|calcium deposit(s)|deposit(s), calcium|pathologic calcification|calcification|pathologically calcified structure DOID:182|SCTID:6595006|ICD9:275.49|NCIT:C3672|EFO:0003837|HP:0003761|MESH:D002114 owl:Class HP:0002648 biolink:NamedThing Abnormality of calvarial morphology The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of cranial bone morphology|Abnormally shaped skull|Abnormality of the shape of cranium|Abnormality of the shape of calvarium|Abnormality of skull bone morphology|Abnormal cranium morphology|Abnormality of the shape of skull bones UMLS:C4280260|UMLS:C4025692 human_phenotype owl:Class HP:0002683 biolink:NamedThing Abnormality of the calvaria Abnormality of the calvaria, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of cranium|Abnormality of calvarium|Abnormality of cranial vault|Abnormality of the skull cap|Abnormality of the skullcap UMLS:C4280561|UMLS:C4025691 The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature. human_phenotype owl:Class MONDO:0011203 biolink:NamedThing Pierre Robin sequence with pectus excavatum and rib and scapular anomalies tmpaxzxjjyw_mondo_relaxed.owl Pierre Robin sequence with pectus excavatum and rib and scapular anomalies|skeletal dysplasia related to campomelic dysplasia|campomelic dysplasia, mild GARD:0010090|UMLS:C1865783|MESH:C535775|Orphanet:140|OMIM:602196 https://rarediseases.info.nih.gov/diseases/10090/pierre-robin-sequence-with-pectus-excavatum-and-rib-and-scapular-anomalies owl:Class MONDO:0000660 biolink:NamedThing akinetopsia An agnosia that is a loss of motion perception. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060130 owl:Class UBERON:0010344 biolink:NamedThing 3rd arch mesenchyme from head mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009569 biolink:NamedThing subdivision of trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006432 biolink:NamedThing stromal predominant kidney Wilms tumor Wilms tumor of the kidney characterized by the predominance of the mesenchymal component. tmpaxzxjjyw_mondo_relaxed.owl stromal predominant renal Wilms' tumor|stromal predominant renal Wilms tumor|stromal predominant Wilms tumor|stromal predominant renal adenosarcoma|stromal predominant kidney adenosarcoma|stromal predominant kidney Wilms tumor|stromal predominant nephroblastoma|stromal predominant renal Wilm's tumor|stromal predominant kidney Wilms' tumor DOID:5191|EFO:1000551|UMLS:C0279610|NCIT:C9148 owl:Class MONDO:0001742 biolink:NamedThing interval angle-closure glaucoma tmpaxzxjjyw_mondo_relaxed.owl intermittent angle-closure glaucoma|angle-closure glaucoma, subacute|prodromal angle closure glaucoma DOID:13549|UMLS:C0154945|SCTID:65460003|ICD10:H40.23|ICD9:365.21 owl:Class MONDO:0001868 biolink:NamedThing primary angle-closure glaucoma An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. tmpaxzxjjyw_mondo_relaxed.owl primary angle closure glaucoma ICD9:365.20|ICD10:H40.2|SCTID:392288006|UMLS:C0017606|EFO:1001506|ICD10:H40.20|UMLS:C0017605|NCIT:C34640|DOID:1405|ICD9:365.2 owl:Class GO:0016667 biolink:NamedThing oxidoreductase activity, acting on a sulfur group of donors Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase activity, acting on sulphur group of donors|oxidoreductase activity, acting on sulfur group of donors, other acceptors owl:Class MONDO:0002629 biolink:NamedThing bone osteosarcoma A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. tmpaxzxjjyw_mondo_relaxed.owl bone osteosarcoma|osteosarcoma of bone|primary osteosarcoma of bone MESH:D012516|NCIT:C53707|DOID:3376|MedDRA:10031291|SCTID:307576001|ICD9:170.9|Orphanet:668|OMIM:259500|GARD:0007284|ICD10:C41.9 owl:Class MONDO:0021372 biolink:NamedThing neoplasm of temporal lobe A neoplasm (disease) that involves the temporal lobe. tmpaxzxjjyw_mondo_relaxed.owl temporal lobe neoplasm (disease)|neoplasm of temporal lobe|neoplasm of the temporal lobe|temporal lobe tumor|tumor of the temporal lobe|tumor of temporal lobe|temporal lobe neoplasm NCIT:C5567|UMLS:C1263887|SCTID:126955002 owl:Class MONDO:0012251 biolink:NamedThing MEDNIK syndrome MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia). tmpaxzxjjyw_mondo_relaxed.owl mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia|mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma|erythrokeratodermia variabilis 3|intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma|intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia|MEDNIK|erythrokeratodermia variabilis, Kamouraska type UMLS:C1836330|MESH:C563739|UMLS:CN229776|OMIM:609313|Orphanet:171851|SCTID:722035007|DOID:0060483 owl:Class MONDO:0012324 biolink:NamedThing Frias syndrome A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression. tmpaxzxjjyw_mondo_relaxed.owl 14q22-q23 microdeletion syndrome|Frias syndrome|Growth deficiency, Facial anomalies, and brachydactyly|chromosome 14Q22 deletion syndrome|Del(14)(q22q23)|monosomy 14q22q23|14q22q23 microdeletion syndrome|monosomy 14q22-q23 GARD:0002384|MESH:C535639|OMIM:609640|Orphanet:264200|UMLS:C1864825|ICD10:Q93.5|Orphanet:2055 owl:Class MONDO:0005696 biolink:NamedThing central nervous system tuberculosis A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with seizures, focal neurologic deficits, and intracranial hypertension. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as opportunistic infections, but also occur in immunocompetent individuals. tmpaxzxjjyw_mondo_relaxed.owl intracranial tuberculoma|tuberculous abscess of brain|tuberculosis of meninges and central nervous system|central nervous system tuberculosis|tuberculoma of brain DOID:1638|ICD9:013.2|ICD9:013.20|UMLS:C2607948|UMLS:C0085388|SCTID:186217006|ICD9:013.35|EFO:0007199 owl:Class MONDO:0017352 biolink:NamedThing disorder of glutamine metabolism tmpaxzxjjyw_mondo_relaxed.owl Orphanet:289841|ICD10:E72.8|UMLS:C0342669|SCTID:190724004|ICD9:270.7 owl:Class MONDO:0011128 biolink:NamedThing Sheldon-hall syndrome Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. tmpaxzxjjyw_mondo_relaxed.owl distal arthrogryposis type 2B|Freeman Sheldon variant|arthrogryposis multiplex congenita distal type 2B|arthrogryposis multiplex congenita distal type II with craniofacial abnormalities|arthrogryposis multiplex congenita, distal, type II, with craniofacial abnormalities|Freeman Sheldon syndrome, variant|Freeman-Sheldon syndrome variant|arthrogryposis multiplex congenita, distal, type 2B|Sheldon-Hall syndrome|arthrogryposis, distal, type 2B|DA2B UMLS:C1834523|OMIM:616266|ICD10:Q68.8|Orphanet:1147|GARD:0009909|DOID:0111599 owl:Class GO:0048581 biolink:NamedThing negative regulation of post-embryonic development Any process that stops, prevents, or reduces the frequency, rate or extent of post-embryonic development. Post-embryonic development is defined as the process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. tmpaxzxjjyw_mondo_relaxed.owl downregulation of post-embryonic development|inhibition of post-embryonic development|down regulation of post-embryonic development|down-regulation of post-embryonic development owl:Class MONDO:0010623 biolink:NamedThing ichthyosis and male hypogonadism tmpaxzxjjyw_mondo_relaxed.owl Ichthyosis-male hypogonadism syndrome|ichthyosis and male hypogonadism|rud syndrome|Ruds ICD9:759.89|Orphanet:431|UMLS:C1839989|GARD:0009612|SCTID:2355008|OMIM:308200 owl:Class MONDO:0700000 biolink:NamedThing ALG9-associated autosomal dominant polycystic kidney disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the ALG9 gene. tmpaxzxjjyw_mondo_relaxed.owl ALG9 autosomal dominant polycystic kidney disease|ALG9-associated ADPKD|autosomal dominant polycystic kidney disease caused by mutation in ALG9|ALG9-associated autosomal dominant polycystic kidney disease|ALG9 related autosomal dominant polycystic kidney disease http://orcid.org/0000-0002-4142-7153 owl:Class NCBITaxon:10232 biolink:NamedThing Acanthocephala tmpaxzxjjyw_mondo_relaxed.owl spiny-headed worms|thorny-headed worms|Acanthocephala|acanthocephalans GC_ID:1 ncbi_taxonomy owl:Class HGNC:20389 biolink:NamedThing RETN tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003515 biolink:NamedThing forelimb blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008107 biolink:NamedThing nystagmus, hereditary vertical tmpaxzxjjyw_mondo_relaxed.owl hereditary vertical nystagmus|nystagmus, hereditary vertical|congenital hereditary vertical nystagmus UMLS:C1834078|GARD:0009604|MESH:C537857|OMIM:164150 https://rarediseases.info.nih.gov/diseases/9604/nystagmus-hereditary-vertical owl:Class MONDO:0019944 biolink:NamedThing Eisenmenger syndrome Eisenmenger syndrome (ES) is an form of pulmonary arterial hypertension (PAH) associated with unoperated congenital heart disease and is characterized by congenital heart malformations with reversed or bi-directional shunting through an intra-cardiac or intervascular (usually aorto-pulmonary) communication with the development of PAH. tmpaxzxjjyw_mondo_relaxed.owl Eisenmenger's syndrome NCIT:C84390|MESH:D004541|UMLS:C0013743|GARD:0006323|SCTID:445928005|ICD10:I27.2|Orphanet:97214|MedDRA:10058554 https://rarediseases.info.nih.gov/diseases/6323/eisenmenger-syndrome owl:Class MONDO:0009271 biolink:NamedThing geroderma osteodysplastica Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl geroderma osteodysplastica|Walt Disney dwarfism|GO|GERODERMA OSTEODYSPLASTICUM|Geroderma osteodysplasticum|Gerodermia osteodysplastica ICD10:Q82.8|GARD:0000413|MESH:C537799|Orphanet:2078|OMIM:231070|UMLS:C0432255|SCTID:254116003|ICD9:759.89|DOID:0111266 https://rarediseases.info.nih.gov/diseases/413/geroderma-osteodysplastica owl:Class UBERON:0002478 biolink:NamedThing orbitosphenoid tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004001 biolink:NamedThing olfactory bulb layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016611 biolink:NamedThing auditory hillocks, pharyngeal arch 1 derived tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005952 biolink:NamedThing scarlet fever A streptococcal infection, mainly occurring among children, that is characterized by a red skin rash, sore throat, and fever. tmpaxzxjjyw_mondo_relaxed.owl scarlatina NCIT:C94575|ICD9:034.1|MESH:D012541|SCTID:30242009|DOID:8596|ICD10:A38.9|ICD9:034|EFO:0007477|UMLS:C0036285|ICD10:A38 owl:Class MONDO:0012663 biolink:NamedThing Plasmodium falciparum fever episodes quantitative trait locus 1 tmpaxzxjjyw_mondo_relaxed.owl malaria fever episodes quantitative trait locus 1|Pffe1|Plasmodium falciparum fever episodes quantitative trait locus 1|Plasmodium falciparum fever episodes quantitative trait locus type 1 OMIM:611384 Editor note consider obsoleting owl:Class MONDO:0014127 biolink:NamedThing oculocutaneous albinism type 5 Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered. tmpaxzxjjyw_mondo_relaxed.owl oculocutaneous albinism type V|OCA5|albinism, oculocutaneous, type V ICD10:E70.3|OMIM:615312|SCTID:722057000|DOID:0070099|Orphanet:370091|UMLS:CN204842 owl:Class MONDO:0010746 biolink:NamedThing thumbs, congenital Clasped tmpaxzxjjyw_mondo_relaxed.owl thumbs, congenital Clasped|Clasped thumbs, congenital|adducted thumbs syndrome OMIM:314100|UMLS:CN074234|GARD:0010277 owl:Class MONDO:0014821 biolink:NamedThing complex lethal osteochondrodysplasia tmpaxzxjjyw_mondo_relaxed.owl Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type|osteochondrodysplasia, Complex lethal, Symoens-Barnes-Gistelinck type|osteochondrodysplasia, COMPLEX lethal, Symoens-Barnes-Gistelinck type|OCLSBG OMIM:616897|Orphanet:457378|ICD10:Q78.8|UMLS:C4225162 owl:Class MONDO:0019207 biolink:NamedThing DEND syndrome DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes. tmpaxzxjjyw_mondo_relaxed.owl K ATP associated developmental delay, epilepsy and neonatal diabetes|developmental delay-epilepsy-neonatal diabetes syndrome Orphanet:79134|SCTID:721088003|NCIT:C131845|ICD10:P70.2|OMIM:606176|UMLS:C4303593|UMLS:C1853564 owl:Class MONDO:0100164 biolink:NamedThing permanent neonatal diabetes mellitus Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment. tmpaxzxjjyw_mondo_relaxed.owl PNDM|diabetes mellitus, permanent, of infancy|developmental delay, epilepsy, and neonatal diabetes|PDMI|permanent diabetes mellitus of infancy|diabetes mellitus, permanent neonatal|monogenic diabetes of infancy|diabetes mellitus, permanent neonatal, with neurologic features UMLS:C1853564|NCIT:C114902|UMLS:C1833104|Orphanet:79134|SCTID:609565001|DOID:0060639|OMIMPS:606176|ICD10:P70.2|GARD:0010457|Orphanet:99885 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/10457/permanent-neonatal-diabetes-mellitus owl:Class UBERON:0004135 biolink:NamedThing distal tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021164 biolink:NamedThing posthitis An inflammatory disease involving a pathogenic inflammatory response in the prepuce of penis. tmpaxzxjjyw_mondo_relaxed.owl inflammation of prepuce of penis|prepuce of penis inflammation SCTID:44318002|UMLS:C0235640 owl:Class MONDO:0002837 biolink:NamedThing sarcomatoid transitional cell carcinoma A poorly differentiated transitional cell carcinoma characterized by the presence of malignant cells with spindle cell morphologic features. tmpaxzxjjyw_mondo_relaxed.owl transitional cell carcinoma, sarcomatoid|transitional spindle cell carcinoma|transitional cell spindle cell carcinoma|sarcomatoid transitional cell carcinoma DOID:4014|NCIT:C4120|ICDO:8122/3|UMLS:C0334271 owl:Class GO:1903283 biolink:NamedThing negative regulation of glutathione peroxidase activity Any process that stops, prevents or reduces the frequency, rate or extent of glutathione peroxidase activity. tmpaxzxjjyw_mondo_relaxed.owl inhibition of GSH peroxidase activity|negative regulation of reduced glutathione peroxidase activity|downregulation of GSH peroxidase activity|inhibition of glutathione:hydrogen-peroxide oxidoreductase activity|down regulation of selenium-glutathione peroxidase activity|negative regulation of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of GSH peroxidase activity|down-regulation of non-selenium glutathione peroxidase activity|downregulation of glutathione:hydrogen-peroxide oxidoreductase activity|inhibition of selenium-glutathione peroxidase activity|down regulation of non-selenium glutathione peroxidase activity|negative regulation of GSH peroxidase activity|inhibition of glutathione peroxidase activity|down regulation of glutathione peroxidase activity|downregulation of non-selenium glutathione peroxidase activity|downregulation of glutathione peroxidase activity|down-regulation of glutathione peroxidase activity|inhibition of reduced glutathione peroxidase activity|down regulation of GSH peroxidase activity|inhibition of non-selenium glutathione peroxidase activity|downregulation of selenium-glutathione peroxidase activity|negative regulation of non-selenium glutathione peroxidase activity|down-regulation of selenium-glutathione peroxidase activity|down regulation of reduced glutathione peroxidase activity|downregulation of reduced glutathione peroxidase activity|down-regulation of glutathione:hydrogen-peroxide oxidoreductase activity|down regulation of glutathione:hydrogen-peroxide oxidoreductase activity|down-regulation of reduced glutathione peroxidase activity|negative regulation of selenium-glutathione peroxidase activity owl:Class GO:0002639 biolink:NamedThing positive regulation of immunoglobulin production Any process that activates or increases the frequency, rate, or extent of immunoglobulin production. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of immunoglobulin biosynthetic process|positive regulation of immunoglobulin secretion|stimulation of immunoglobulin production|activation of immunoglobulin production|upregulation of immunoglobulin production|up-regulation of immunoglobulin production|up regulation of immunoglobulin production owl:Class MONDO:0020379 biolink:NamedThing early-onset zonular cataract tmpaxzxjjyw_mondo_relaxed.owl OMIM:607304|OMIM:610019|OMIM:605728|Orphanet:98995|ICD10:Q12.0|OMIM:613763|OMIM:609376|OMIM:116400|UMLS:CN207251|GARD:0001898 https://rarediseases.info.nih.gov/diseases/1898/early-onset-zonular-cataract owl:Class MONDO:0020377 biolink:NamedThing early-onset partial cataract tmpaxzxjjyw_mondo_relaxed.owl OMIM:115800|OMIM:601202|OMIM:116300|OMIM:613763|OMIM:609376|ICD10:Q12.0|OMIM:614422|OMIM:116400|Orphanet:98992|UMLS:CN207248|OMIM:607304|OMIM:115660|OMIM:605728|OMIM:610019 owl:Class CHEBI:38337 biolink:NamedThing pyrimidone A pyrimidine carrying one or more oxo substituents. tmpaxzxjjyw_mondo_relaxed.owl pyrimidones owl:Class MONDO:0006213 biolink:NamedThing floor of mouth mucoepidermoid carcinoma A mucoepidermoid carcinoma of the oral cavity that arises from the floor of the mouth. tmpaxzxjjyw_mondo_relaxed.owl mouth floor mucoepidermoid carcinoma|mucoepidermoid carcinoma of floor of mouth|mucoepidermoid carcinoma of the floor of mouth EFO:1000260|NCIT:C8178|UMLS:C0280310 owl:Class MONDO:0021343 biolink:NamedThing carcinoma of floor of mouth A carcinoma that involves the mouth floor. tmpaxzxjjyw_mondo_relaxed.owl floor of the mouth carcinoma|mouth floor cancer|carcinoma of mouth floor|floor of mouth carcinoma|carcinoma of the floor of the mouth|mouth floor carcinoma NCIT:C9319|SCTID:449156009 owl:Class MONDO:0007612 biolink:NamedThing gingival fibromatosis-progressive deafness syndrome Gingival fibromatosis-progressive deafness syndrome is characterized by gingival fibromatosis associated with progressive sensorineural hearing loss. It has been described in two families (with at least 16 affected members spanning five generations in one of the families, and five affected members spanning three generations in the other family). It is transmitted as an autosomal dominant trait. tmpaxzxjjyw_mondo_relaxed.owl gingival fibromatosis with sensorineural hearing loss|Jones syndrome|familial gingival fibromatosis associated with progressive deafness|fibromatosis, gingival, with progressive deafness|GFD|gingival fibromatosis with progressive deafness Orphanet:2027|MESH:C535886|OMIM:135550|GARD:0003056|ICD10:H90.3|UMLS:C1851112|SCTID:722449007 owl:Class CHEBI:33579 biolink:NamedThing main group molecular entity A molecular entity containing one or more atoms from any of groups 1, 2, 13, 14, 15, 16, 17, and 18 of the periodic table. tmpaxzxjjyw_mondo_relaxed.owl main group molecular entities|main group compounds owl:Class GO:1903131 biolink:NamedThing mononuclear cell differentiation The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002521 biolink:NamedThing leukocyte differentiation The process in which a relatively unspecialized hemopoietic precursor cell acquires the specialized features of a leukocyte. A leukocyte is an achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. tmpaxzxjjyw_mondo_relaxed.owl leucocyte differentiation|immune cell differentiation owl:Class GO:0016310 biolink:NamedThing phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000276 biolink:NamedThing Powassan encephalitis A disease caused by infection with Powassan virus. tmpaxzxjjyw_mondo_relaxed.owl Powassan virus disease or disorder|Powassan virus infectious disease|powassan encephalitis virus infection|Powassan virus caused disease or disorder|encephalitis, powassan UMLS:C0032858|DOID:0050179|UMLS:C1563215|SCTID:416707008|ICD9:063.8 owl:Class MONDO:0016019 biolink:NamedThing Rasmussen subacute encephalitis A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia. tmpaxzxjjyw_mondo_relaxed.owl RE|chronic focal encephalitis|Rasmussen syndrome|CFE|Rasmussen encephalitis ICD10:G04.8|GARD:0007527|UMLS:C2930868|ICD9:323.9|NCIT:C125384|SCTID:230191005|MESH:C535291|Orphanet:1929 owl:Class MONDO:0100028 biolink:NamedThing immune epilepsy Epilepsies that have a distinct immune-mediated etiology with evidence of central nervous system inflammation, that has been demonstrated to be associated with a substantially increased risk of developing epilepsy. tmpaxzxjjyw_mondo_relaxed.owl 2018-06-23 00:11:14+00:00 owl:Class MONDO:0010040 biolink:NamedThing ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation|ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability UMLS:C3151619|OMIM:270500 owl:Class MONDO:0015029 biolink:NamedThing reticular perineurioma tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197319|Orphanet:100000 owl:Class MONDO:0004205 biolink:NamedThing lymphohistiocytoid mesothelioma tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334464|DOID:7381|NCIT:C27779 owl:Class MONDO:0006407 biolink:NamedThing sarcomatoid mesothelioma A diffuse malignant mesothelioma arising from the pleura and less often the peritoneum. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen. tmpaxzxjjyw_mondo_relaxed.owl spindled mesothelioma|sarcomatoid mesothelioma (morphologic abnormality)|malignant fibrous mesothelioma (morphologic abnormality)|malignant fibrous mesothelioma|sarcomatoid mesothelioma EFO:1000521|UMLS:C0334513|DOID:4488|NCIT:C45655 owl:Class MONDO:0009276 biolink:NamedThing Bernard-Soulier syndrome Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination. tmpaxzxjjyw_mondo_relaxed.owl Bernard-Soulier syndrome, type B|deficiency of platelet glycoprotein 1b|giant platelet disease|macrothrombocytopenia, familial Bernard-Soulier type|giant platelet syndrome|Platelet glycoprotein 1b, deficiency of|Bernard-Soulier syndrome, type C|Bernard-Soulier syndrome, type A1|glycoprotein Ib, Platelet, deficiency of|Hemorrhagiparous thrombocytic dystrophy|Bernard-Soulier syndrome|thrombopathy, Bernard-Soulier|Platelet glycoprotein Ib deficiency|Bernard - Soulier thrombopathy|Bernard Soulier syndrome|BSS|hemorrhagic dystrophic thrombocytopenia|bleeding disorder, Platelet-type, 1|Von Willebrand Factor receptor deficiency OMIM:153670|UMLS:C0005129|ICD10:D69.1|MedDRA:10057473|SCTID:234478007|MESH:D001606|DOID:2217|GARD:0002470|Orphanet:274|OMIM:231200|NCIT:C84595 owl:Class MONDO:0016361 biolink:NamedThing isolated hereditary giant platelet disorder tmpaxzxjjyw_mondo_relaxed.owl isolated hereditary giant platelet disorder|isolated inherited giant platelet disorder|isolated inherited macrothrombocytopenia|isolated hereditary macrothrombocytopenia ICD10:D69.1|UMLS:CN226911|Orphanet:220452 owl:Class MONDO:0015072 biolink:NamedThing liver neuroendocrine carcinoma An extremely rare, aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the liver. tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine carcinoma of liver|HNEC|liver neuroendocrine carcinoma|primary hepatic neuroendocrine carcinoma|hepatic neuroendocrine carcinoma|liver neuroendocrine cancer|primary liver neuroendocrine carcinoma|PHNEC Orphanet:100085|UMLS:CN197365|UMLS:C3273031|NCIT:C96787|ICD10:C22.7|SCTID:716652006 owl:Class MONDO:0011168 biolink:NamedThing type 1 diabetes mellitus 10 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the IL2RA gene. tmpaxzxjjyw_mondo_relaxed.owl type 1 diabetes mellitus caused by mutation in IL2RA|IL2RA type 1 diabetes mellitus|insulin-dependent diabetes mellitus 10|diabetes mellitus, insulin-dependent, type 10|IDDM10|diabetes mellitus, insulin-dependent, 10 MESH:C566602|OMIM:601942|UMLS:C1866040|DOID:0110749|ICD10:E10 owl:Class HGNC:8785 biolink:NamedThing PDE6A tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002074 biolink:NamedThing myocardial endocrine cell The myoendocrine cellis a specialized myocyte localized mainly in the right and left atrial appendages, and also scattered within other areas of the atria and along the conductive system in the ventricular septum. The most conspicuous feature distinguishing myoendocrine cells from other atrial myoctyes is the presence of membane-bounded secretory granules (these granules contain precursor of cardiodilatins or atrial natriuretic polypeptides). tmpaxzxjjyw_mondo_relaxed.owl FMA:67111 tmeehan 2010-06-29T11:50:47Z cell owl:Class MONDO:0005826 biolink:NamedThing lipid pneumonia Pneumonia due to aspiration or inhalation of various oily or fatty substances. tmpaxzxjjyw_mondo_relaxed.owl cholesterol pneumonia|lipoid pneumonitis|exogenous lipoid pneumonia|lipoidpneumonitis|pneumonia lipid EFO:0007345|SCTID:707449006|GARD:0006394|MESH:D011017|UMLS:C0032298|DOID:3241|ICD10:J69.1 owl:Class MONDO:0016412 biolink:NamedThing peripheral hypothyroidism Peripheral hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, that results from peripheral defects in thyroid hormone metabolism. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:226310 owl:Class MONDO:0100109 biolink:NamedThing Zinner syndrome A rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction and ipsilateral ejaculatory duct obstruction. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0034922 biolink:NamedThing cell cluster tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017188 biolink:NamedThing diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency tmpaxzxjjyw_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form OMIM:601820|Orphanet:276603|ICD10:E16.1 owl:Class MONDO:0010670 biolink:NamedThing X-linked intellectual disability-spastic quadriparesis syndrome tmpaxzxjjyw_mondo_relaxed.owl mental retardation with spastic paraplegia|intellectual disability with spastic paraplegia MESH:C564099|Orphanet:163982|UMLS:C1839727|OMIM:309640 owl:Class MONDO:0002275 biolink:NamedThing generalized atherosclerosis Atherosclerosis that is not localized. tmpaxzxjjyw_mondo_relaxed.owl generalised atherosclerosis|generalized and unspecified atherosclerosis DOID:2347|ICD9:440.9|UMLS:C0017327|ICD10:I70.91|SCTID:39823006|NCIT:C35767 owl:Class MONDO:0005311 biolink:NamedThing atherosclerosis Build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. tmpaxzxjjyw_mondo_relaxed.owl atherosclerotic cardiovascular disease|atherosclerosis of artery|atherosclerosis artery SCTID:441574008|MESH:D050197|ICD10:I70|ICD10:I25.1|DOID:1936|NCIT:C35768|EFO:0003914|ICD9:440|ICD9:440.8|NCIT:C35771 Note that NCIT distinguishes between atherosclerotic cardiovascular disease and atherosclerosis - we merge these here owl:Class GO:0042645 biolink:NamedThing mitochondrial nucleoid The region of a mitochondrion to which the DNA is confined. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000315 biolink:NamedThing commensal bacterial infectious disease A bacterial infectious disease that results in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. tmpaxzxjjyw_mondo_relaxed.owl opportunistic bacterial infectious disease DOID:0050339 Editor note: TODO owl:Class GO:0051799 biolink:NamedThing negative regulation of hair follicle development Any process that stops, prevents, or reduces the frequency, rate or extent of hair follicle development. tmpaxzxjjyw_mondo_relaxed.owl downregulation of hair follicle development|inhibition of hair follicle development|down regulation of hair follicle development|down-regulation of hair follicle development owl:Class GO:1904256 biolink:NamedThing positive regulation of iron ion transmembrane transporter activity Any process that activates or increases the frequency, rate or extent of an iron transmembrane transporter activity. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of iron channel activity|upregulation of iron cation channel activity|up regulation of iron-specific channel activity|positive regulation of iron channel activity|positive regulation of iron transmembrane transporter activity|positive regulation of iron cation channel activity|up-regulation of iron cation channel activity|activation of iron-specific channel activity|up regulation of iron channel activity|positive regulation of iron-specific channel activity|activation of iron cation channel activity|up-regulation of iron-specific channel activity|upregulation of iron-specific channel activity|activation of iron channel activity|upregulation of iron channel activity|up regulation of iron cation channel activity owl:Class MONDO:0100010 biolink:NamedThing tendinopathy Disorders that are causes by overuse of tendons. tmpaxzxjjyw_mondo_relaxed.owl tendon disease or disorder|disease of tendon|disorder of tendon|disease or disorder of tendon|tendon disease 2018-07-17 15:51:39+00:00 EFO:1001434|SCTID:68172002 owl:Class MONDO:0008129 biolink:NamedThing ophthalmoplegia, familial total, with iris transillumination tmpaxzxjjyw_mondo_relaxed.owl ophthalmoplegia, familial total, with iris transillumination OMIM:165098|UMLS:C1833836|MESH:C563499 owl:Class NCBITaxon:1437201 biolink:NamedThing Pentapetalae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:91827 biolink:NamedThing Gunneridae tmpaxzxjjyw_mondo_relaxed.owl core eudicotyledons|core eudicots GC_ID:1 NCBITaxon:1437200 ncbi_taxonomy owl:Class MONDO:0011199 biolink:NamedThing nephropathy, progressive tubulointerstitial, with cholestatic liver disease tmpaxzxjjyw_mondo_relaxed.owl nephropathy, progressive tubulointerstitial, with cholestatic liver disease OMIM:602114|Orphanet:171|MESH:C566573|UMLS:C1865831 owl:Class NCBITaxon:786 biolink:NamedThing Rickettsia akari tmpaxzxjjyw_mondo_relaxed.owl Gamasoxenus muris|agent of rickettsialpox|rickettsialpox|Dermacentroxenus murinus GC_ID:11 ncbi_taxonomy owl:Class HGNC:4087 biolink:NamedThing GABRG2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003787 biolink:NamedThing childhood testicular mixed germ cell cancer A malignant mixed germ cell neoplasm that arises from the testis during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood testicular mixed germ cell tumor|pediatric mixed testicular germ cell cancer|childhood testicular mixed germ cell neoplasm|childhood mixed testicular germ cell cancer|mixed testicular germ cell cancer of childhood|pediatric testicular mixed germ cell tumor|pediatric testicular mixed germ cell neoplasm NCIT:C6542|UMLS:C1333009|DOID:6161 owl:Class GO:0071830 biolink:NamedThing triglyceride-rich lipoprotein particle clearance The process in which a triglyceride-rich lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008740 biolink:NamedThing agnathia-otocephaly complex Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. tmpaxzxjjyw_mondo_relaxed.owl agnathia-holoprosencephaly|AGOTC|Dysgnathia Complex agnathia-holoprosencephaly|dysgnathia complex agnathia-holoprosencephaly|holoprosencephaly-agnathia|otocephaly|agnathia-otocephaly complex|agnathia-holoprosencephaly-situs inversus syndrome ICD10:Q87.8|NCIT:C124568|UMLS:CN207252|DOID:0060341|ICD10:Q18.2|OMIM:202650|SCTID:48180002|ICD9:759.89|GARD:0009126|Orphanet:990 owl:Class MONDO:0011534 biolink:NamedThing Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies. tmpaxzxjjyw_mondo_relaxed.owl hereditary motor and sensory neuropathy Russe type|autosomal recessive Charcot-Marie-Tooth disease type 4G|hereditary motor and sensory neuropathy, Russe type|Charcot-Marie-Tooth disease, autosomal recessive, type 4G|Charcot-Marie-Tooth disease, type 4G|HMSNR|CMT4G|neuropathy, hereditary motor and sensory, Russe type|Charcot-Marie-Tooth neuropathy type 4G|HK1 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth neuropathy, type 4G|Charcot-Marie-Tooth disease type 4 caused by mutation in HK1 OMIM:605285|Orphanet:99953|SCTID:715799004|ICD10:G60.0|UMLS:C1854449|GARD:0010132|DOID:0110196|MESH:C535813 owl:Class MONDO:0032628 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 24 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24|MC1DN24 OMIM:618245 owl:Class UBERON:0005884 biolink:NamedThing hyoid arch skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0500000 biolink:NamedThing exposure to environmental disposition A exposure event involving the interaction of an exposure receptor to environmental disposition. tmpaxzxjjyw_mondo_relaxed.owl environmental disposition exposure owl:Class UBERON:0004271 biolink:NamedThing outflow tract pericardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017375 biolink:NamedThing congenital enterovirus infection Congenital viral infections with enteroviruses (EV) including coxsackie viruses and ECHO viruses is an infectious embryofetopathy that have been reported to cause spontaneous abortion, stillbirth, fetal malformations and acute systemic illness in the newborn. tmpaxzxjjyw_mondo_relaxed.owl mother-to-child transmission of enterovirus infection|antenatal enterovirus infection|congenital infection caused by enterovirus|congenital enterovirus infectious disease|congenital enterovirus infection SCTID:716865000|ICD10:P35.8|Orphanet:292|UMLS:C4274223 owl:Class MONDO:0014334 biolink:NamedThing severe combined immunodeficiency due to LCK deficiency tmpaxzxjjyw_mondo_relaxed.owl SCID due to LCK deficiency|IMD22|severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency|immunodeficiency type 22|SCID due to lymphocyte-specific protein tyrosine kinase deficiency|immunodeficiency 22 Orphanet:280142|ICD10:D81.1|OMIM:615758|UMLS:C4014233 owl:Class MONDO:0001890 biolink:NamedThing pulp erosion A tooth erosion, non-bacterial that involves the dental pulp. tmpaxzxjjyw_mondo_relaxed.owl dental pulp tooth erosion, non-bacterial|tooth erosion, non-bacterial of dental pulp ICD9:521.33|DOID:14140 owl:Class MONDO:0002325 biolink:NamedThing tooth erosion, non-bacterial Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296) tmpaxzxjjyw_mondo_relaxed.owl generalized erosion|localized erosion|tooth erosion UMLS:C0040436|ICD9:521.35|SCTID:82212003|MESH:D014077|ICD9:521.34|ICD9:521.30|DOID:2498|ICD9:521.3|ICD10:K03.2 owl:Class MONDO:0014854 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 66 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant deafness 66|deafness, autosomal dominant 66|autosomal dominant nonsyndromic deafness type 66|DFNA66|autosomal dominant nonsyndromic deafness caused by mutation in CD164|autosomal dominant nonsyndromic deafness 66|CD164 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 66 OMIM:616969|UMLS:C4283893|ICD10:H90.3|DOID:0110587 owl:Class MONDO:0025510 biolink:NamedThing pythiosis A granulomatous disease caused by the aquatic organism pythium insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial. tmpaxzxjjyw_mondo_relaxed.owl human pythiosis|pythium insidiosum infection MESH:D058968|UMLS:C0276912|EFO:1001410|GARD:0011989 owl:Class MONDO:0033569 biolink:NamedThing combined oxidative phosphorylation deficiency 49 tmpaxzxjjyw_mondo_relaxed.owl COXPD49|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 OMIM:619024 owl:Class MONDO:0018806 biolink:NamedThing primary intrahepatic lithiasis tmpaxzxjjyw_mondo_relaxed.owl primary hepatolithiasis|PIHL Orphanet:480506 owl:Class MONDO:0015967 biolink:NamedThing monogenic diabetes Rare genetic diabetes mellitus. tmpaxzxjjyw_mondo_relaxed.owl rare genetic diabetes mellitus|monogenic diabetes Orphanet:183625 https://github.com/monarch-initiative/mondo/issues/254 owl:Class GO:1901361 biolink:NamedThing organic cyclic compound catabolic process The chemical reactions and pathways resulting in the breakdown of organic cyclic compound. tmpaxzxjjyw_mondo_relaxed.owl organic cyclic compound degradation|organic cyclic compound catabolism|organic cyclic compound breakdown owl:Class PATO:0015025 biolink:NamedThing decreased porosity An decrease in porosity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0410280 biolink:NamedThing Pediatric onset Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. tmpaxzxjjyw_mondo_relaxed.owl Paediatric onset|Onset before adulthood 2018-11-01 15:27:45+00:00 http://orcid.org/0000-0001-5208-3432 human_phenotype owl:Class MONDO:0013989 biolink:NamedThing developmental and epileptic encephalopathy, 14 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 14|DEE14|EIEE14|epileptic encephalopathy, early infantile, 14|early infantile epileptic encephalopathy caused by mutation in KCNT1|KCNT1 early infantile epileptic encephalopathy UMLS:C3554195|OMIM:614959|DOID:0080439|Orphanet:293181 owl:Class MONDO:0100279 biolink:NamedThing peroxisome biogenesis disorder due to PEX11B defect Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene. tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX11B defect|PEX11B related peroxisome biogenesis disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0015533 biolink:NamedThing benign cephalic histiocytosis tmpaxzxjjyw_mondo_relaxed.owl SCTID:255192005|UMLS:C0347403|ICD10:D76.3|Orphanet:157997|ICD9:216.8 owl:Class MONDO:0003954 biolink:NamedThing angiokeratoma of Fordyce An angiokeratoma that is located on the scrotum or vulva. tmpaxzxjjyw_mondo_relaxed.owl Fordyce's spot|Fordyce angiokeratoma|Fordyce-type angiokeratoma of scrotum SCTID:6331000|NCIT:C7752|DOID:664|UMLS:C0263639 owl:Class GO:2000831 biolink:NamedThing regulation of steroid hormone secretion Any process that modulates the frequency, rate or extent of steroid hormone secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008193 biolink:NamedThing paralysis agitans, juvenile, of Hunt tmpaxzxjjyw_mondo_relaxed.owl paralysis agitans, juvenile, of Hunt|Parkinson disease, juvenile, of Hunt MESH:C562469|GARD:0010359|SCTID:43647007|ICD9:333.0|OMIM:168100|Orphanet:171695 https://rarediseases.info.nih.gov/diseases/10359/paralysis-agitans-juvenile-of-hunt owl:Class MONDO:0043094 biolink:NamedThing ichthyosis, follicular tmpaxzxjjyw_mondo_relaxed.owl follicular ichthyosis GARD:0002355|SCTID:238627002 https://github.com/monarch-initiative/mondo/issues/2114 owl:Class UBERON:0004336 biolink:NamedThing proximal phalanx of pedal digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18249 biolink:NamedThing KCTD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011516 biolink:NamedThing early response to neural induction gene tmpaxzxjjyw_mondo_relaxed.owl Erni|early response to neural induction gene OMIM:605105 owl:Class NCBITaxon:10114 biolink:NamedThing Rattus tmpaxzxjjyw_mondo_relaxed.owl rat|rats GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010740 biolink:NamedThing taurodontism, microdontia, and dens invaginatus tmpaxzxjjyw_mondo_relaxed.owl taurodontism, microdontia, and dens invaginatus MESH:C536947|UMLS:C1839235|OMIM:313490|GARD:0010068 https://rarediseases.info.nih.gov/diseases/10068/taurodontism-microdontia-and-dens-invaginatus owl:Class MONDO:0042603 biolink:NamedThing Sanderson-Fraser syndrome tmpaxzxjjyw_mondo_relaxed.owl proptosis, Robin association, clenched hands, and multiple abnormalities|Sanderson Fraser syndrome GARD:0000153|UMLS:C2931450|MESH:C537232 owl:Class UBERON:0035401 biolink:NamedThing posterior wall of nasopharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005068 biolink:NamedThing neural rod tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0022408 biolink:NamedThing negative regulation of cell-cell adhesion Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. tmpaxzxjjyw_mondo_relaxed.owl downregulation of cell-cell adhesion|down regulation of cell-cell adhesion|inhibition of cell-cell adhesion|down-regulation of cell-cell adhesion owl:Class MONDO:0004019 biolink:NamedThing oxyphilic endometrial endometrioid adenocarcinoma A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of eosinophilic malignant glandular epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl oxyphilic endometrial endometrioid adenocarcinoma UMLS:C1518768|NCIT:C27849|DOID:6865 owl:Class GO:0007565 biolink:NamedThing female pregnancy The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. tmpaxzxjjyw_mondo_relaxed.owl carrying of young|gestation owl:Class GO:0044706 biolink:NamedThing multi-multicellular organism process A multicellular organism process which involves another multicellular organism of the same or different species. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011514 biolink:NamedThing Abnormality of binocular vision An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023320 peter 2012-04-06T06:00:34Z human_phenotype owl:Class NCBITaxon:1648038 biolink:NamedThing Triticodae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147368 biolink:NamedThing Pooideae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class ENVO:01000958 biolink:NamedThing terrestrial planet A planet that is composed primarily of silicate rocks or metals. tmpaxzxjjyw_mondo_relaxed.owl Earth-like planet|rocky planet|telluric planet owl:Class UBERON:0003358 biolink:NamedThing epithelium of soft palate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008114 biolink:NamedThing obsessive-compulsive disorder A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety. tmpaxzxjjyw_mondo_relaxed.owl Anancastic neurosis|obsessive-compulsive disorder|OCD|obsessive compulsive disorder ICD10:F42|MESH:D009771|OMIM:164230|ICD9:300.3|NCIT:C88411|SCTID:191736004|DOID:10933|EFO:0004242 owl:Class MONDO:0014875 biolink:NamedThing hyperaldosteronism, familial, type IV tmpaxzxjjyw_mondo_relaxed.owl hyperaldosteronism, familial, type IV|FH 4|hyperaldosteronism, familial, type 4|hyperaldosteronism, familial, type IV; HALD4|HALD4|aldosteronism, primary, and hypertension UMLS:C4310756|OMIM:617027 owl:Class MONDO:0001859 biolink:NamedThing algoneurodystrophy tmpaxzxjjyw_mondo_relaxed.owl DOID:14022|ICD10:M89.0|ICD9:733.7|ICD10:M89.00 owl:Class MONDO:0019369 biolink:NamedThing complex regional pain syndrome Complex regional pain syndrome (CRPS) is a rare neurologic disease painful progressive condition that corresponds to a group of disorders characterized by a disproportionate spontaneous or stimulus-induced pain, accompanied by a variably mixed myriad of autonomic and motor disorders including symptoms such as swelling, allodynia, skin blood supply and trophic disturbances. CRPS most often affects one of the arms, legs, hands, or feet and usually occurs after an injury or trauma to that limb. tmpaxzxjjyw_mondo_relaxed.owl Complex regional pain syndromes|CRPS|reflex sympathetic dystrophy UMLS:C0458219|ICD10:M89.0|Orphanet:83452|MESH:D020918|OMIM:604335|SCTID:128200000|MedDRA:10064332|ICD10:G56.4|GARD:0004647|DOID:3223 owl:Class CHEBI:35366 biolink:NamedThing fatty acid Any aliphatic monocarboxylic acid derived from or contained in esterified form in an animal or vegetable fat, oil or wax. tmpaxzxjjyw_mondo_relaxed.owl acides gras|fatty acids|acido graso|Fatty acid|Fettsaeure|acidos grasos|acide gras|Fettsaeuren owl:Class MONDO:0001117 biolink:NamedThing methemoglobinemia An inherited or acquired condition characterized by abnormally increased levels of methemoglobin in the blood. tmpaxzxjjyw_mondo_relaxed.owl methemoglobinemias ICD9:289.7|ICD10:D74|SCTID:38959009|MESH:D008708|UMLS:C0025637|ICD10:D74.9|DOID:10783|NCIT:C34817 owl:Class MONDO:0044348 biolink:NamedThing hemoglobinopathy tmpaxzxjjyw_mondo_relaxed.owl globin abnormality|hemoglobin disease|hemoglobinopathy|hemoglobin disorder ICD9:282.7|SCTID:80141007 owl:Class MONDO:0018079 biolink:NamedThing thymic epithelial neoplasm An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas. tmpaxzxjjyw_mondo_relaxed.owl thymoma, adult|thymic epithelial tumor|epithelial tumor of Thymus|Thymus epithelial neoplasm|epithelial neoplasm of Thymus|thymus epithelial neoplasm|Tet|epithelial tumor of the Thymus|TEN|thymic epithelium neoplasm|epithelial neoplasm of the Thymus|Thymus epithelial tumor UMLS:C1266101|Orphanet:3398|MESH:C536905|GARD:0005201|ICD10:C37|ICD10:D15.0|NCIT:C6450|ONCOTREE:TET owl:Class MONDO:0001530 biolink:NamedThing secondary hyperparathyroidism of renal origin tmpaxzxjjyw_mondo_relaxed.owl hyperparathyroidism due to renal insufficiency|secondary hyperparathyroidism (of renal origin) ICD10:N25.81|SCTID:19034001|ICD9:588.81|UMLS:C0271847|DOID:12465 owl:Class MONDO:0005048 biolink:NamedThing pancreatic insulin-producing neuroendocrine tumor An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. It may or may not be associated with inappropriate secretion of insulin and an associated clinical syndrome. tmpaxzxjjyw_mondo_relaxed.owl insulin-producing tumor of the islet cells|insulin-producing islet cell tumor|beta cell neoplasm|pancreatic insulin-producing tumor|Beta cell tumor of pancreas|Beta cell tumor of the pancreas|beta cell tumor of the pancreas|pancreatic insulin producing NET|insulin-producing tumor of islet cells|Beta cell tumor|pancreatic insulin producing neoplasm|pancreatic insulin producing tumor|pancreatic insulin-producing neuroendocrine tumor|pancreatic Beta cell tumor Orphanet:97279|ICDO:8151/1|ICDO:8151/0|NCIT:C3140 owl:Class HGNC:1980 biolink:NamedThing CILP tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2954 biolink:NamedThing DNAI1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002534 biolink:NamedThing fallopian tube papilloma A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube papilloma|fallopian tube serous papilloma NCIT:C40112|DOID:3173|UMLS:C1517123 owl:Class ECTO:9000404 biolink:NamedThing exposure to nitrogen An exposure to nitrogen molecular entity. tmpaxzxjjyw_mondo_relaxed.owl exposure to nitrogen molecular entity owl:Class HGNC:5476 biolink:NamedThing IGFBP7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016765 biolink:NamedThing transferase activity, transferring alkyl or aryl (other than methyl) groups Catalysis of the transfer of an alkyl or aryl (but not methyl) group from one compound (donor) to another (acceptor). tmpaxzxjjyw_mondo_relaxed.owl transferase activity, transferring alkyl or aryl groups, other than methyl groups owl:Class MONDO:0022171 biolink:NamedThing chromhidrosis A rare condition characterized by the secretion of colored sweat, caused by the deposition of lipofuscin in the sweat glands. Usually chromhidrosis affects the apocrine glands, mainly on the face and underarms. tmpaxzxjjyw_mondo_relaxed.owl chromhidrosis|secretion of colored sweat GARD:0010749|ICD10:L75.1|ICD9:705.89|SCTID:26147006 https://rarediseases.info.nih.gov/diseases/10749/chromhidrosis owl:Class MONDO:0025491 biolink:NamedThing feline infectious peritonitis Common coronavirus infection of cats caused by the feline infectious peritonitis virus (coronavirus, feline). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis. tmpaxzxjjyw_mondo_relaxed.owl peritonitis, infectious, feline|FIP|feline infectious peritonitides|infectious peritonitides, feline|infectious peritonitis, feline|peritonitis, feline infectious MESH:D016766|UMLS:C0085306 owl:Class MONDO:0024912 biolink:NamedThing cat disease Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as cheetahs; lions; tigers, cougars, panthers, leopards, and other Felidae for which the heading carnivora is used. tmpaxzxjjyw_mondo_relaxed.owl Feline diseases|diseases, Feline|diseases, Cat|disease, Feline|disease, Cat|cat disease|Feline disease MESH:D002371|UMLS:C0007350 owl:Class UBERON:0010347 biolink:NamedThing 6th arch mesenchyme from head mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015605 biolink:NamedThing distal monosomy 9p Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. tmpaxzxjjyw_mondo_relaxed.owl distal deletion 9p|telomeric deletion 9p|monosomy 9pter|distal monosomy type 9p MESH:C538025|ICD10:Q93.5|Orphanet:1642|SCTID:763530000 owl:Class NCBITaxon:11617 biolink:NamedThing Arenaviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022785 biolink:NamedThing cleft palate cardiac defect ectrodactyly tmpaxzxjjyw_mondo_relaxed.owl GARD:0001387 https://rarediseases.info.nih.gov/diseases/1387/cleft-palate-cardiac-defect-ectrodactyly owl:Class GO:1902476 biolink:NamedThing chloride transmembrane transport The process in which chloride is transported across a membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011320 biolink:NamedThing radioulnar synostosis-microcephaly-scoliosis syndrome An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl Tsukahara syndrome|radioulnar synostosis with microcephaly, short stature, scoliosis, and intellectual disability|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation|radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation|Giuffré-Tsukahara syndrome|Giuffre-Tsukahara syndrome|Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and intellectual disability Orphanet:3268|UMLS:C1863881|OMIM:603438|GARD:0000394 owl:Class MONDO:0003182 biolink:NamedThing anterior horn disorder Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis. tmpaxzxjjyw_mondo_relaxed.owl ventral horn of spinal cord disease|disorder of ventral horn of spinal cord|disease of ventral horn of spinal cord|ventral horn of spinal cord disease or disorder|disease or disorder of ventral horn of spinal cord ICD9:335|DOID:4873|ICD9:335.9 TODO - check this. DO places as a subtype of SMA, but we invert this. Consider merging into MND owl:Class HGNC:7569 biolink:NamedThing MYH11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000856 biolink:NamedThing negative regulation of mineralocorticoid secretion Any process that stops, prevents or reduces the frequency, rate or extent of mineralocorticoid secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000855 biolink:NamedThing regulation of mineralocorticoid secretion Any process that modulates the frequency, rate or extent of mineralocorticoid secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:27841 biolink:NamedThing Echinostomata tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0003418 biolink:NamedThing Back pain An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. tmpaxzxjjyw_mondo_relaxed.owl Back pain UMLS:C0004604|MSH:D001416|SNOMEDCT_US:161891005 human_phenotype owl:Class HP:0000925 biolink:NamedThing Abnormality of the vertebral column Any abnormality of the vertebral column. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the backbone|Abnormality of the spine|Abnormal spine|Abnormal vertebral column|Abnormality of the vertebral column UMLS:C4020882|UMLS:C4021789 human_phenotype owl:Class MONDO:0001455 biolink:NamedThing retinal lattice degeneration tmpaxzxjjyw_mondo_relaxed.owl palisade degeneration of retina ICD9:362.63|SCTID:3577000|UMLS:C0154856|ICD10:H35.41|DOID:12165 owl:Class MONDO:0009901 biolink:NamedThing Bartsocas-Papas syndrome Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported. tmpaxzxjjyw_mondo_relaxed.owl popliteal pterygium syndrome lethal type|pterygium, popliteal, lethal type|lethal popliteal pterygium syndrome|autosomal recessive popliteal pterygium syndrome|pterygium popliteal lethal type|Bartsocas Papas syndrome|multiple pterygium syndrome, Aslan type|popliteal pterygium syndrome, Bartsocas-Papas type|popliteal pterygium syndrome, lethal type|Bartsocas-Papas syndrome|BPS MESH:C564874|SCTID:722376008|GARD:0004436|OMIM:263650|UMLS:C1849718|ICD10:Q87.2|Orphanet:1234 owl:Class PATO:0001294 biolink:NamedThing radiation reflective quality A scalar EM radiation quality which obtains by the capacity of the bearer to scatter or reflect radiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001292 biolink:NamedThing full-spectrum EM radiation quality An EM radiation quality that is independent of the EM wavelength range. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044645 biolink:NamedThing familial monosomy 7 syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:495930 owl:Class MONDO:0016460 biolink:NamedThing polyvalvular heart disease syndrome Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl PHD syndrome SCTID:723448007|Orphanet:228410|ICD10:Q87.8|UMLS:C4509918|UMLS:CN201425 owl:Class MONDO:0002801 biolink:NamedThing colonic pseudo-obstruction Functional obstruction of the colon leading to megacolon in the absence of obvious colonic diseases or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome. tmpaxzxjjyw_mondo_relaxed.owl primary chronic pseudo-obstruction of colon|acute colonic ileus|ACPO|acute colonic pseudo-obstruction|Ogilvie's syndrome SCTID:35065006|GARD:0007248|MESH:D003112|DOID:3876|EFO:1000871|ICD9:564.89|UMLS:C0009377 owl:Class MONDO:0002803 biolink:NamedThing intestinal pseudo-obstruction Intestinal pseudo-obstruction is a digestive disorder in whichthe intestinal walls are unable to contract normally (called hypomotility); the conditionresembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive ; and other symptoms. It may be classified as neuropathic (from lack of nerve function)or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner)and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms andensure that nutritional support is adequate. tmpaxzxjjyw_mondo_relaxed.owl pseudo-obstruction of intestine|intestinal pseudo-obstruction|hollow visceral myopathy|intestine pseudoobstruction|intestinal pseudoobstruction DOID:3878|MESH:D007418|GARD:0006789|SCTID:235825006|NCIT:C34733|EFO:1000988|ICD9:569.89 https://rarediseases.info.nih.gov/diseases/6789/intestinal-pseudo-obstruction owl:Class UBERON:0019198 biolink:NamedThing dorsal nerve of clitoris tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005040 biolink:NamedThing mucosa of terminal bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015061 biolink:NamedThing neurogenic thoracic outlet syndrome Neurogenic thoracic outlet syndrome (NTOS) is a form of thoracic outlet syndrome (TOS) that presents with pain, paresthesias and weakness in an upper extremity and is divided into true NTOS and disputed NTOS. tmpaxzxjjyw_mondo_relaxed.owl neurogenic cervical rib syndrome|neurogenic thoracic outlet compression syndrome|neurogenic TOS|NTOS|neurogenic costoclavicular syndrome SCTID:2040007|ICD10:G54.0|UMLS:C0751549|Orphanet:100073 owl:Class MONDO:0006321 biolink:NamedThing non-functioning adrenal cortex adenoma An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease. tmpaxzxjjyw_mondo_relaxed.owl non-functioning endocrine neoplasm of adrenal cortex|adrenal cortical incidentaloma|non-functioning adrenal cortex adenoma|adrenal cortex non-functioning endocrine neoplasm|non-functioning adrenal cortical adenoma|nonfunctional adrenal cortex adenoma UMLS:C1709240|EFO:1000399|NCIT:C48458 owl:Class CHEBI:27690 biolink:NamedThing acetazolamide tmpaxzxjjyw_mondo_relaxed.owl 5-ACETAMIDO-1,3,4-THIADIAZOLE-2-SULFONAMIDE|Diamox|N-(5-sulfamoyl-1,3,4-thiadiazol-2-yl)acetamide|acetazolamide|acetazolamida|N-[5-(aminosulfonyl)-1,3,5-thiadiazol-2-yl]acetamide|N-[5-(aminosulfonyl)-1,3,4-thiadiazol-2-yl]acetamide|Diluran|Defiltran|acetazolamidum|Diacarb|Acetazolamide|Glaupax|5-acetylamino-1,3,4-thiadiazole-2-sulfonamide|2-acetylamino-1,3,4-thiadiazole-5-sulfonamide owl:Class MONDO:0004792 biolink:NamedThing cancer of isthmus of fallopian tube A cancer that involves the UBERON:0016632. tmpaxzxjjyw_mondo_relaxed.owl isthmus of fallopian tube cancer|cancer of isthmus of fallopian tube|malignant isthmus of fallopian tube neoplasm|malignant neoplasm of isthmus of fallopian tube ICD9:182.1|DOID:9459 owl:Class MONDO:0041447 biolink:NamedThing metastatic malignant neoplasm in the colon The spread of a malignant neoplasm to the colon. This may be from a primary large intestine malignant neoplasm, or from a malignant neoplasm at a distant site. tmpaxzxjjyw_mondo_relaxed.owl metastatic malignant neoplasm in the colon|metastatic neoplasm to the colon|metastatic malignant neoplasm to the colon|metastatic tumor to the colon NCIT:C8411|UMLS:C0346974 owl:Class MONDO:0024880 biolink:NamedThing metastatic malignant neoplasm A malignant tumor that has spread from its original (primary) site of growth to another site close to or distant from the primary site. tmpaxzxjjyw_mondo_relaxed.owl metastatic cancer|metastatic neoplasm, malignant|malignant metastatic neoplasm|metastatic malignant neoplasm NCIT:C36263 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class HGNC:7326 biolink:NamedThing MSH3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014333 biolink:NamedThing polymicrogyria, bilateral perisylvian, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl polymicrogyria, bilateral perisylvian, autosomal recessive|BPPR|Pmgr Orphanet:268940|UMLS:C3810405|OMIM:615752|Orphanet:98889 owl:Class UBERON:0004224 biolink:NamedThing muscular coat of vas deferens tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0008776 biolink:NamedThing Abnormal renal artery morphology Any structural abnormality of the renal artery. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the renal artery|Abnormal kidney artery UMLS:C4024624 peter 2008-04-04T06:13:00Z human_phenotype owl:Class PO:0025338 biolink:NamedThing collective plant organ structure development stage A plant structure development stage (PO:0009012) that has as primary participant a collective plant structure (PO:0025497). tmpaxzxjjyw_mondo_relaxed.owl etapa de desarrollo de una estructura colectiva de la planta (Spanish, exact)|集合的植物構造の発生過程 (Japanese, exact) PO_GIT:391 Includes flower development stage (PO:0007615), corolla development stage (PO:0007604), and inflorescence development stage (PO:0001083). rwalls 2011-10-19T11:12:49Z plant_structure_development_stage owl:Class PO:0009012 biolink:NamedThing plant structure development stage A stage in the life of a plant structure (PO:0009011) during which the plant structure undergoes developmental processes. tmpaxzxjjyw_mondo_relaxed.owl etapa de desarrollo de estructura vegetal (Spanish, exact)|plant growth and development stage (exact)|Arabidopsis growth (related) PO_GIT:185 Refers to GO:0032502 'developmental process', which includes growth, differentiation, and senescence, and BFO:0000003 'ocurrent'. PO:0007021 plant_structure_development_stage owl:Class MONDO:0014702 biolink:NamedThing autosomal recessive complex spastic paraplegia type 9B Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spastic paraplegia 9B|ALDH18A1 autosomal recessive complex spastic paraplegia|SPG9B|autosomal recessive complex spastic paraplegia type 9B|spastic paraplegia 9B, autosomal recessive|AR-SPG9B|hereditary spastic paraplegia 9B|hereditary spastic paraplegia type 9B|autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1 DOID:0110825|Orphanet:447760|ICD10:G11.4|UMLS:C4225272|OMIM:616586 Editor note: the DO definition is hereditary spastic paraplegia that has material basis in mutation in the ALDH18A1, but this does not differentiate from 9A. See https://github.com/Orphanet/ORDO/issues/8 owl:Class MONDO:0001769 biolink:NamedThing acquired tear duct stenosis tmpaxzxjjyw_mondo_relaxed.owl stenosis of nasolacrimal duct, acquired|tear duct - acquired stenosis|acquired nasolacrimal duct stenosis|acquired stenosis of nasolacrimal duct DOID:13655|ICD10:H04.55|SCTID:193995004|ICD9:375.56 owl:Class MONDO:0001005 biolink:NamedThing kaolin pneumoconiosis Pneumoconiosis caused by inhalation of kaolin dust. tmpaxzxjjyw_mondo_relaxed.owl simple kaolinosis|Kaolinosis DOID:10331|ICD9:502|SCTID:36696005|UMLS:C0264435|NCIT:C35315|GARD:0008355 https://rarediseases.info.nih.gov/diseases/8355/kaolin-pneumoconiosis owl:Class MONDO:0001027 biolink:NamedThing gonococcal seminal vesiculitis A gonorrhea that involves the seminal vesicle. tmpaxzxjjyw_mondo_relaxed.owl gonococcal seminal vesiculitis (acute)|gonorrhea of seminal vesicle|seminal vesicle gonorrhea UMLS:C0578661|SCTID:301990003|DOID:10400 owl:Class MONDO:0002791 biolink:NamedThing large cell medulloblastoma A medulloblastoma composed of large cells with prominent nucleoli and a larger amount of cytoplasm in contrast with the cells of the classic medulloblastoma. tmpaxzxjjyw_mondo_relaxed.owl large cell medulloblastoma (morphologic abnormality)|large cell medulloblastoma NCIT:C6904|ICDO:9474/3|DOID:3857|EFO:0008508|UMLS:C1266180 owl:Class MONDO:0003933 biolink:NamedThing chest wall bone cancer An uncommon malignant neoplasm that arises from the chest wall bones. Representative examples include chondrosarcoma, osteosarcoma, and Ewing sarcoma/peripheral primitive neuroectodermal tumor. tmpaxzxjjyw_mondo_relaxed.owl bone cancer of chest wall|malignant chest wall bone neoplasm|malignant bone tumor of chest wall|malignant bone tumor of the chest wall|chest wall bone cancer|malignant bone neoplasm of the chest wall|malignant bone neoplasm of chest wall|malignant chest wall bone tumor DOID:6579|NCIT:C6724|UMLS:C1334572 owl:Class MONDO:0009849 biolink:NamedThing hyperimmunoglobulinemia D with periodic fever Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs). tmpaxzxjjyw_mondo_relaxed.owl hyper IgD syndrome|partial mevalonate kinase deficiency|periodic fever, Dutch type|hyperimmunoglobulinemia D syndrome|periodic fever Dutch type|hyper-IgD syndrome|hyperimmunoglobinemia D with recurrent fever|HIDS|hyperimmunoglobulinemia D and periodic fever syndrome Orphanet:343|OMIM:260920|GARD:0002788|ICD10:E85.0|UMLS:C0398691 owl:Class HGNC:17321 biolink:NamedThing SP7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009743 biolink:NamedThing response to carbohydrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to carbohydrate stimulus owl:Class HGNC:4092 biolink:NamedThing GAD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21863 biolink:NamedThing RBM28 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00003030 biolink:NamedThing silage A fermented, high-moisture forage that can be fed to ruminants. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:0010003 biolink:NamedThing agricultural environmental material tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:7203 biolink:NamedThing Brachycera tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021650 biolink:NamedThing uterine corpus neuroendocrine neoplasm An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma. tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine neoplasm of body of uterus|body of uterus neuroendocrine neoplasm|body of uterus neuroendocrine tumor, well differentiated, low or intermediate grade|uterine corpus neuroendocrine tumor|uterine corpus neuroendocrine neoplasm|body of uterus neuroendocrine tumor|body of uterus NET NCIT:C126771|UMLS:C4288048 owl:Class FOODON:03420116 biolink:NamedThing part of organism Anatomical part of the plant or animal from which a food product or its major ingredient is derived. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12309 biolink:NamedThing ZNHIT3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905114 biolink:NamedThing cell surface receptor signaling pathway involved in cell-cell signaling Any cell surface receptor signaling pathway that is involved in cell-cell signaling. tmpaxzxjjyw_mondo_relaxed.owl cell surface receptor linked signalling pathway involved in cell-cell signaling|cell surface receptor linked signaling pathway involved in cell-cell signalling|cell surface receptor signaling pathway involved in cell-cell signalling|cell surface receptor linked signaling pathway involved in cell-cell signaling|cell surface receptor linked signal transduction involved in cell-cell signalling|cell surface receptor linked signal transduction involved in cell-cell signaling|cell surface receptor linked signalling pathway involved in cell-cell signalling owl:Class UBERON:8410041 biolink:NamedThing venule of lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007150 biolink:NamedThing arcus senilis A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera. tmpaxzxjjyw_mondo_relaxed.owl corneal arcus|arcus corneae|arcus senilis|arcus of cornea MESH:D001112|DOID:11342|OMIM:107800|UMLS:C0003742|SCTID:231924000|MedDRA:10003082|EFO:1000818|ICD10:H18.41 owl:Class MONDO:0002476 biolink:NamedThing anuria Absence of urine output. tmpaxzxjjyw_mondo_relaxed.owl suppression of urinary secretion DOID:2983|UMLS:C0003460|MESH:D001002|NCIT:C114699 owl:Class GO:0018958 biolink:NamedThing phenol-containing compound metabolic process The chemical reactions and pathways involving a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. tmpaxzxjjyw_mondo_relaxed.owl hydroxybenzene metabolic process|carbolic acid metabolic process|hydroxybenzene metabolism|carbolic acid metabolism|phenol-containing compound metabolism owl:Class ENVO:01001673 biolink:NamedThing fluid surface layer A surface layer which is composed primarily of some liquid or gas. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:17883 biolink:NamedThing hydrogen chloride A mononuclear parent hydride consisting of covalently bonded hydrogen and chlorine atoms. tmpaxzxjjyw_mondo_relaxed.owl chlorane|Wasserstoffchlorid|hydrogen chloride|hydrochloric acid|[HCl]|Chlorwasserstoff|HCl|Hydrogen chloride|chlorure d'hydrogene|Hydrogenchlorid|Hydrochloride|chloridohydrogen|cloruro de hidrogeno owl:Class CHEBI:37176 biolink:NamedThing mononuclear parent hydride tmpaxzxjjyw_mondo_relaxed.owl mononuclear parent hydrides|mononuclear hydrides|mononuclear hydride owl:Class GO:0006073 biolink:NamedThing cellular glucan metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell. tmpaxzxjjyw_mondo_relaxed.owl cellular glucan metabolism owl:Class GO:0044264 biolink:NamedThing cellular polysaccharide metabolic process The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl cellular glycan metabolic process|cellular polysaccharide metabolism|cellular glycan metabolism owl:Class HGNC:11556 biolink:NamedThing TAL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009747 biolink:NamedThing Navajo neurohepatopathy tmpaxzxjjyw_mondo_relaxed.owl mitochondrial DNA depletion syndrome 6|Navajo familial neurogenic arthropathy|mitochondrial DNA depletion syndrome 6 (hepatocerebral type)|MPV17-related hepatocerebral mitochondrial DNA depletion syndrome|Navajo neuropathy|Navajo neurohepatopathy|NN|MTDPS6 GARD:0003972|DOID:0080125|OMIM:256810|Orphanet:255229|MESH:C538344 owl:Class MONDO:0000698 biolink:NamedThing gamma-amino butyric acid metabolism disorder An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060176 owl:Class MONDO:0006781 biolink:NamedThing Helicobacter pylori infectious disease Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease. tmpaxzxjjyw_mondo_relaxed.owl Helicobacter pylori disease or disorder|Helicobacter infection|infections, Helicobacter|infection, Helicobacter|Helicobacter pylori infection, susceptibility to|Helicobacter pylori caused disease or disorder MESH:D016481|EFO:1000961 owl:Class MONDO:0002106 biolink:NamedThing labyrinthine unilateral reactive loss tmpaxzxjjyw_mondo_relaxed.owl unilateral loss of labyrinthine reactivity|loss of labyrinthine reactivity, unilateral ICD9:386.55|DOID:1776|UMLS:C0155519 owl:Class MONDO:0012623 biolink:NamedThing intellectual disability, autosomal recessive 4 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 4|intellectual disability, autosomal recessive 4|MRT4 OMIM:611107|UMLS:C1970179|MESH:C567008 owl:Class HP:0410243 biolink:NamedThing Abnormal circulating IgM level An abnormal deviation from normal levels of IgM immunoglobulin in blood. tmpaxzxjjyw_mondo_relaxed.owl Abnormal IgM level in blood 2018-10-12 20:32:45+00:00 http://orcid.org/0000-0001-5208-3432 human_phenotype owl:Class HP:0010701 biolink:NamedThing Abnormal immunoglobulin level An abnormal deviation from normal levels of immunoglobulins in blood. tmpaxzxjjyw_mondo_relaxed.owl Abnormal immunoglobulin concentration|Immunoglobulin abnormality|Abnormal serum immunoglobulin levels|Abnormal serum level of immunoglobulin|Abnormal serum immunoglobulin concentration UMLS:C1855755 'has part' some (amount and ('inheres in' some (IMR_0002090 and ('part of' some blood))) and ('has modifier' some abnormal)) peter 2010-03-22T08:17:49Z HP:0100032 human_phenotype owl:Class GO:0010513 biolink:NamedThing positive regulation of phosphatidylinositol biosynthetic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012475 biolink:NamedThing cone dystrophy with supernormal rod response Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation. tmpaxzxjjyw_mondo_relaxed.owl cone dystrophy with supernormal Rod responses|cone dystrophy with night blindness and supernormal Rod responses, Kcnv2-related|cone dystrophy with supernormal scotopic electroretinogram|cone dystrophy with supernormal rod response|cone dystrophy with supernormal rod ERG|cone dystrophy with supernormal rod electroretinogram|cone dystrophy with night blindness and supernormal rod responses KCNV2 related|retinal cone dystrophy type 3B|retinal cone dystrophy 3B|RCD3B OMIM:610356|UMLS:C1835897|GARD:0010649|UMLS:C4304714|Orphanet:209932|ICD10:H35.5|SCTID:719455002|MESH:C563678 owl:Class MONDO:0020397 biolink:NamedThing parachute tricuspid valve Parachute tricuspid valve is a rare congenital heart malformation defined as an insertion of the chordal apparatus into a single papillary muscle or a muscle group, making a pathognomonic 'pear' shape sign in the four-chamber echocardiographic view with the atrium forming the larger base of the pear and the leaflets the apex. Isolated parachute tricuspid valve may be asymptomatic or present with symptoms of tricuspid stenosis (diastolic inspiratory murmur, pulsation of jugular veins, hepatomegaly, edema, epigastric discomfort, right atrial enlargement, right ventricular hypertrophy, electrocardiography abnormalities). It may also be associated with other heart malformations and present with symptoms of the complex of malformations. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99056|ICD10:Q22.8 owl:Class GO:0015318 biolink:NamedThing inorganic molecular entity transmembrane transporter activity Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. tmpaxzxjjyw_mondo_relaxed.owl inorganic solute uptake transmembrane transporter activity|inorganic uptake permease activity owl:Class MONDO:0004665 biolink:NamedThing nodular sclerosis classical Hodgkin lymphoma A subtype of classical Hodgkin lymphoma characterized by collagen bands that surround at least one nodule, and Hodgkin and Reed-Sternberg cells with lacunar type morphology. (WHO, 2008) tmpaxzxjjyw_mondo_relaxed.owl nodular sclerosis Hodgkin lymphoma|Hodgkin's disease nodular sclerosis|Hodgkin's disease, nodular sclerosis NOS (morphologic abnormality)|Hodgkin's disease, nodular sclerosis|nodular sclerosis Hodgkin's lymphoma|Hodgkin lymphoma, nodular sclerosis|NSHL|nodular sclerosis Hodgkin's disease|NSCHL|classical Hodgkin lymphoma, nodular sclerosis|Hodgkin's disease, nodular sclerosis of unspecified site|Hodgkin's nodular sclerosis|NSHD|Hodgkin's lymphoma, nodular sclerosis|nodular sclerosis classical Hodgkin lymphoma|nodular sclerosis Classic Hodgkin lymphoma ICD10:C81.1|EFO:0004708|ICDO:9663/3|DOID:8838|SCTID:118608000|ICD9:201.5|ONCOTREE:NSCHL|NCIT:C3518 owl:Class UBERON:0008266 biolink:NamedThing periodontal ligament tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012322 biolink:NamedThing holoprosencephaly 5 Holoprosencephaly associated with mutations in the ZIC2 gene. tmpaxzxjjyw_mondo_relaxed.owl holoprosencephaly type 5|holoprosencephaly caused by mutation in ZIC2|ZIC2 holoprosencephaly|HPE5|holoprosencephaly 5 NCIT:C75460|Orphanet:2162|UMLS:C1864827|OMIM:609637|MESH:C566464|DOID:0110878 owl:Class MONDO:0011426 biolink:NamedThing aceruloplasminemia Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms. tmpaxzxjjyw_mondo_relaxed.owl familial apoceruloplasmin deficiency|hypoceruloplasminemia|systemic hemosiderosis due to aceruloplasminemia|hemosiderosis, systemic, due to aceruloplasminemia|aceruloplasminemia|hereditary ceruloplasmin deficiency|ceruloplasmin deficiency ICD10:G23.0|DOID:0050711|ICD9:277.6|Orphanet:48818|GARD:0009499|SCTID:124224004|OMIM:604290 https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia owl:Class HGNC:10345 biolink:NamedThing RPL35A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007298 biolink:NamedThing pronephric proximal convoluted tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022685 biolink:NamedThing cerebellar agenesis tmpaxzxjjyw_mondo_relaxed.owl GARD:0001187 https://rarediseases.info.nih.gov/diseases/1187/cerebellar-agenesis owl:Class MONDO:0001719 biolink:NamedThing gonococcal bursitis An bursitis caused by infection with Neisseria gonorrhoeae. tmpaxzxjjyw_mondo_relaxed.owl Neisseria gonorrhoeae caused bursitis|Neisseria gonorrhoeae bursitis DOID:13453|ICD10:M73.0|ICD9:098.52|SCTID:46699001|UMLS:C0153218|ICD10:A54.49 owl:Class MONDO:0008320 biolink:NamedThing Protrusio acetabuli tmpaxzxjjyw_mondo_relaxed.owl PROTRUSIO acetabuli|Protrusio acetabuli|Protrusio acetabuli (disease) Protrusio acetabuli (disease) SCTID:59606006|HP:0003179|OMIM:177050 owl:Class MONDO:0002453 biolink:NamedThing retrocochlear disease Pathological processes involving the vestibulocochlear nerve; brainstem; or central nervous system. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss. tmpaxzxjjyw_mondo_relaxed.owl DOID:2889|MESH:D012181|UMLS:C0035352 owl:Class HGNC:11042 biolink:NamedThing SLC6A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006868 biolink:NamedThing seminal fluid secreting gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005399 biolink:NamedThing male reproductive gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051650 biolink:NamedThing establishment of vesicle localization The directed movement of a vesicle to a specific location. tmpaxzxjjyw_mondo_relaxed.owl establishment of vesicle localisation owl:Class UBERON:0008397 biolink:NamedThing tracheobronchial epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004815 biolink:NamedThing lower respiratory tract epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024518 biolink:NamedThing reactive thrombocytosis A thrombocytosis caused by an underlying condition, such as an infection. tmpaxzxjjyw_mondo_relaxed.owl secondary thrombocytosis ICD9:286.9|UMLS:C0457506|SCTID:234500001 owl:Class UBERON:0013501 biolink:NamedThing cloacal sphincter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006071 biolink:NamedThing caudal region tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9678 biolink:NamedThing PTPRO tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025066 biolink:NamedThing epidermitis, exudative, of swine An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed) tmpaxzxjjyw_mondo_relaxed.owl swine exudative dermatitis|swine exudative Dermatitides|greasy pig disease|Epidermitis, exudative of swine|disease, greasy pig|exudative dermatitis of swine MESH:D004818|UMLS:C0014521 owl:Class PATO:0001580 biolink:NamedThing increased contractility A contractility which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl high contractility owl:Class PATO:0001690 biolink:NamedThing contractile A contractility quality inhering in a bearer by virtue of the bearer's ability of contracting or being contracted. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016301 biolink:NamedThing congenitally corrected transposition of the great arteries Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. tmpaxzxjjyw_mondo_relaxed.owl L-transposition of the great vessels|Double discordance|levo-transposition of the great vessels|discordant ventriculoarterial and atrioventricular connections|L-transposition of the great arteries|transposition of the great arteries, congenitally corrected|congenitally corrected transposition of the great vessels|ventriculoarterial and atrioventricular discordance|transposition of the great vessels, congenitally corrected|ventricular inversion|levo-transposition of the great arteries MESH:C535426|GARD:0001544|SCTID:83799000|UMLS:C3274488|ICD10:Q20.5|Orphanet:216694|MedDRA:10011120|ICD9:745.12|NCIT:C98902 https://rarediseases.info.nih.gov/diseases/1544/congenitally-corrected-transposition-of-the-great-arteries owl:Class MONDO:0016762 biolink:NamedThing microcornea-corectopia-macular hypoplasia syndrome Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family. tmpaxzxjjyw_mondo_relaxed.owl microcornea corectopia macular hypoplasia ICD10:Q15.8|Orphanet:2535|UMLS:C2931531|MESH:C537551|GARD:0003636 owl:Class MONDO:0100137 biolink:NamedThing telomere syndrome Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. tmpaxzxjjyw_mondo_relaxed.owl STS|short telomere syndrome owl:Class GO:0032409 biolink:NamedThing regulation of transporter activity Any process that modulates the activity of a transporter. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001887 biolink:NamedThing Allen-Masters syndrome A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix. tmpaxzxjjyw_mondo_relaxed.owl Broad ligament laceration syndrome|Masters-Allen syndrome ICD9:620.6|DOID:14133|UMLS:C0152079|SCTID:69186005 owl:Class MONDO:0045043 biolink:NamedThing disorder of uterine broad ligament A disease or disorder that involves the broad ligament of uterus. tmpaxzxjjyw_mondo_relaxed.owl disease of broad ligament of uterus|disorder of broad ligament|disease or disorder of broad ligament of uterus|broad ligament of uterus disease|disorder of broad ligament of uterus|broad ligament of uterus disease or disorder UMLS:C0404479|SCTID:237062006 owl:Class MONDO:0010998 biolink:NamedThing ALG3-CDG A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3). tmpaxzxjjyw_mondo_relaxed.owl CDGS4 (formerly)|carbohydrate-deficient glycoprotein syndrome type IV (formerly)|CDG Id|congenital disorder of glycosylation type Id|ALG3-CDG (CDG-Id)|carbohydrate-deficient glycoprotein syndrome, type IV|CDG syndrome type Id|carbohydrate deficient glycoprotein syndrome type Id|congenital disorder of glycosylation, type Id|congenital disorder of glycosylation type 1d|CDGId|mannosyltransferase 6 deficiency|CDG-Id|CDG1D|carbohydrate-deficient glycoprotein syndrome, type IV, formerly|Cdgs, type IV|CDG 1D|Cdgs, type IV, formerly UMLS:C1832736|NCIT:C126870|GARD:0009827|OMIM:601110|ICD10:E77.8|MESH:C535742|DOID:0080556|Orphanet:79321|SCTID:720976009 owl:Class UBERON:0000084 biolink:NamedThing ureteric bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1001005 biolink:NamedThing glomerular capillary endothelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001037 cell owl:Class MONDO:0012858 biolink:NamedThing primary CD59 deficiency tmpaxzxjjyw_mondo_relaxed.owl HACD59|primary CD59 deficiency|hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy|CD59 deficiency ICD10:D84.1|Orphanet:169464|MESH:C567355|UMLS:C2676767|OMIM:612300 owl:Class MONDO:0012164 biolink:NamedThing Meacham syndrome Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. tmpaxzxjjyw_mondo_relaxed.owl Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype|Meacham-Winn-Culler syndrome|Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome|Meacham Winn Culler syndrome|Meacham syndrome ICD10:Q87.8|GARD:0003432|OMIM:608978|UMLS:C1837026|Orphanet:3097|SCTID:722461004 owl:Class MONDO:0015021 biolink:NamedThing hypotonia, ataxia, and delayed development syndrome tmpaxzxjjyw_mondo_relaxed.owl HADDS|hypotonia, ataxia, and delayed development syndrome; HADDS|hypotonia, ataxia, and delayed development syndrome OMIM:617330|UMLS:C4310618 owl:Class MONDO:0015726 biolink:NamedThing distal trisomy 14q tmpaxzxjjyw_mondo_relaxed.owl distal duplication 14q|telomeric duplication 14q|distal trisomy type 14q|trisomy 14qter Orphanet:1705|UMLS:CN036934|MESH:C538034|ICD10:Q92.3 owl:Class HGNC:13556 biolink:NamedThing IFT122 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007451 biolink:NamedThing diabetes insipidus, nephrogenic, autosomal tmpaxzxjjyw_mondo_relaxed.owl diabetes insipidus, nephrogenic, autosomal|diabetes insipidus, nephrogenic, type 2 Orphanet:223|OMIM:125800|UMLS:C1563706 owl:Class MONDO:0016383 biolink:NamedThing nephrogenic diabetes insipidus Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children. tmpaxzxjjyw_mondo_relaxed.owl diabetes insipidus nephrogenic|diabetes insipidus nephrogenic type 1|vasopressin-resistant diabetes insipidus|diabetes insipidus nephrogenic X-linked|ADH resistant diabetes insipidus MESH:D018500|ICD10:N25.1|Orphanet:223|UMLS:C0162283|ICD9:588.1|OMIM:125800|DOID:12387|MedDRA:10029147|NCIT:C84919|SCTID:111395007|GARD:0007178|OMIM:304800 owl:Class UBERON:0013232 biolink:NamedThing serous acinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014391 biolink:NamedThing palmar/plantar sweat gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7114 biolink:NamedThing MKRN3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19414 biolink:NamedThing DPY19L2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011954 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl melanoma, cutaneous malignant, susceptibility to, 4|CMM4 Orphanet:618|OMIM:608035 owl:Class MONDO:0014364 biolink:NamedThing mitochondrial complex III deficiency nuclear type 8 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial complex III deficiency, nuclear type 8|MC3DN8|mitochondrial complex III deficiency caused by mutation in LYRM7|mitochondrial Complex 3 deficiency, nuclear type 8|mitochondrial complex III deficiency nuclear type 8|LYRM7 mitochondrial complex III deficiency UMLS:C4014440|OMIM:615838|Orphanet:1460|DOID:0080117 owl:Class MONDO:0008828 biolink:NamedThing camptodactyly-arthropathy-coxa vara-pericarditis syndrome Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is a rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. tmpaxzxjjyw_mondo_relaxed.owl camptodactyly-arthropathy-coxa vara-pericarditis syndrome|fibrosing serositis, familial|camptodactyly arthropathy pericarditis syndrome|arthropathy-camptodactyly syndrome|Cap syndrome|Jacobs syndrome|PAC syndrome|hypertrophic synovitis, congenital familial|CACP|arthropathy camptodactyly syndrome|pericarditis-arthropathy-camptodactyly syndrome|familial fibrosing serositis|camptodactyly-arthropathy-coxa-vara-pericarditis syndrome|camptodactyly-arthropathy-pericarditis syndrome|congenital familial hypertrophic synovitis|pericarditis arthropathy camptodactyly syndrome|camptodactyly arthropathy coxa vara pericarditis syndrome|CACP syndrome OMIM:208250|GARD:0000306|DOID:0090127|MESH:C537560|Orphanet:2848|EFO:0009028 https://rarediseases.info.nih.gov/diseases/306/camptodactyly-arthropathy-coxa-vara-pericarditis-syndrome owl:Class MONDO:0043339 biolink:NamedThing lathyrism A paralytic condition of the legs caused by ingestion of lathyrogens, especially beta-aminopropionitrile or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus lathyrus. tmpaxzxjjyw_mondo_relaxed.owl lathyrism|Neurolathyrism|vetchling poisoning|Lathyrus species poisoning MESH:D007842|GARD:0010441|SCTID:5724005|EFO:1001776 owl:Class MONDO:0004087 biolink:NamedThing basaloid large cell lung carcinoma A morphologic variant of large cell lung carcinoma characterized by the presence of a solid nodular or anastomotic trabecular growth pattern, peripheral palisading, and comedo type necrosis. tmpaxzxjjyw_mondo_relaxed.owl basaloid large cell carcinoma of the lung|basaloid lung carcinoma|basaloid large cell lung carcinoma DOID:7045|NCIT:C7266|ONCOTREE:BLCLC|UMLS:C1332463 owl:Class MONDO:0010853 biolink:NamedThing Helicobacter pylori infection, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl Helicobacter pylori infection, susceptibility to UMLS:C1838332|OMIM:600263 owl:Class CHEBI:6495 biolink:NamedThing lipoprotein A clathrate complex consisting of a lipid enwrapped in a protein host without covalent binding in such a way that the complex has a hydrophilic outer surface consisting of all the protein and the polar ends of any phospholipids. tmpaxzxjjyw_mondo_relaxed.owl lipoprotein particle|Lipoprotein|lipoproteins owl:Class CHEBI:33837 biolink:NamedThing conjugated protein Conjugated protein is a protein that contains a non-peptide component, usually in stoichiometric proportion. tmpaxzxjjyw_mondo_relaxed.owl conjugated proteins|complex protein owl:Class MONDO:0016005 biolink:NamedThing indomethacin embryofetopathy Indomethacin embryofetopathy refers to the manifestations that may be observed in a fetus or newborn when the mother has taken indomethacin, a potent prostaglandin inhibitor and tocolytic agent that can cross placenta, during pregnancy. Reported adverse fetal/neonatal effects include decreased renal function resulting in oligohydramnios, closure of the ductus arteriosus, and delayed cardiovascular adaptation at birth. These effects are usually transient and reversible. Indomethacin may also be a risk factor for cerebral injury (periventricular leukomalacia) and necrotizing enterocolitisin preterm infants. tmpaxzxjjyw_mondo_relaxed.owl fetal indomethacin syndrome|antenatal indomethacin exposure UMLS:C4275138|GARD:0002994|Orphanet:1909|ICD10:Q86.8|SCTID:715430001|UMLS:CN200656 owl:Class GO:0034655 biolink:NamedThing nucleobase-containing compound catabolic process The chemical reactions and pathways resulting in the breakdown of nucleobases, nucleosides, nucleotides and nucleic acids. tmpaxzxjjyw_mondo_relaxed.owl nucleobase, nucleoside, nucleotide and nucleic acid breakdown|nucleobase, nucleoside, nucleotide and nucleic acid catabolism|nucleobase, nucleoside, nucleotide and nucleic acid degradation|nucleobase, nucleoside, nucleotide and nucleic acid catabolic process owl:Class GO:0019439 biolink:NamedThing aromatic compound catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. tmpaxzxjjyw_mondo_relaxed.owl aromatic hydrocarbon catabolic process|aromatic compound degradation|aromatic hydrocarbon catabolism|aromatic compound catabolism|aromatic compound breakdown owl:Class MONDO:0016582 biolink:NamedThing congenital mitral malformation tmpaxzxjjyw_mondo_relaxed.owl GARD:0001495|Orphanet:2447 https://rarediseases.info.nih.gov/diseases/1495/congenital-mitral-malformation owl:Class MONDO:0015437 biolink:NamedThing ring chromosome 21 Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. tmpaxzxjjyw_mondo_relaxed.owl Ring chromosome 21 syndrome|Ring chromosome type 21|chromosome 21 en anneau|R21|Ring 21|chromosome 21 ring MESH:C537109|GARD:0006083|SCTID:31325007|UMLS:CN037252|ICD10:Q93.2|Orphanet:1445 https://rarediseases.info.nih.gov/diseases/6083/ring-chromosome-21 owl:Class MONDO:0014976 biolink:NamedThing lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 31|COXPD31|MIPEP combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 31|combined oxidative phosphorylation deficiency caused by mutation in MIPEP Orphanet:478049|UMLS:C4310661|OMIM:617228|DOID:0111488 owl:Class MONDO:0016760 biolink:NamedThing microcephaly-microcornea syndrome, Seemanova type Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait. tmpaxzxjjyw_mondo_relaxed.owl X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation|Seemanova-Lesny syndrome|Seemanova Lesny syndrome|microcephaly microcornea syndrome Seemanova type MESH:C537539|SCTID:715464002|GARD:0003627|Orphanet:2528|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/3627/microcephaly-microcornea-syndrome-seemanova-type owl:Class UBERON:0015142 biolink:NamedThing falciform fat tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018005 biolink:NamedThing spastic paraplegia-Paget disease of bone syndrome Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle tone, decreased strength in the anterior tibial muscles and hyperreflexia in the lower extremities with Babinski sign) presenting in adulthood, associated with Paget disease of the bone. Cognitive decline, dementia and myopathic changes at muscle biopsy have not been reported. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G11.4|UMLS:CN204217|Orphanet:329475 owl:Class HGNC:7652 biolink:NamedThing NBN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015408 biolink:NamedThing diffuse lymphatic malformation tmpaxzxjjyw_mondo_relaxed.owl Gla|disseminated lymphangiomatosis|diffuse lymphangiomatosis|disseminated lymphangioma|diffuse lymphangioma|generalized lymphatic anomaly|disseminated lymphatic malformation UMLS:C0343090|ICD10:I89.8|Orphanet:141209|SCTID:703298001 owl:Class MONDO:0012874 biolink:NamedThing porokeratosis 6, disseminated superficial actinic type tmpaxzxjjyw_mondo_relaxed.owl porokeratosis 6, disseminated superficial actinic type|POROK6|porokeratosis 6, multiple types|porokeratosis 6, disseminated superficial|porokeratosis, disseminated superficial actinic, 4 Orphanet:79152|UMLS:C2676508|MESH:C567339|OMIM:612353 owl:Class MONDO:0036915 biolink:NamedThing benign ovarian mucinous tumor A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma. tmpaxzxjjyw_mondo_relaxed.owl benign ovarian mucinous neoplasm|benign ovarian mucinous tumor|ovarian mucinous neoplasm, benign EFO:1000115|UMLS:C1511100|NCIT:C40039 owl:Class MONDO:0003756 biolink:NamedThing ovarian mucinous neoplasm A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that contain intracytoplasmic mucin and may resemble the epithelial cells of the endocervix or gastrointestinal tract. tmpaxzxjjyw_mondo_relaxed.owl mucinous neoplasm of the ovary|mucinous neoplasm of ovary|mucinous tumor of ovary|malignant ovarian mucinous neoplasm|ovarian mucinous tumor|mucinous tumor of the ovary|ovarian mucinous neoplasm NCIT:C40033|DOID:6067|NCIT:C5242|UMLS:C1518233|UMLS:C1335168 owl:Class MONDO:0001324 biolink:NamedThing hyperandrogenism A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes. The clinical significance in males is negligible. In women, the common manifestations are hirsutism and virilism as seen in patients with polycystic ovary syndrome and adrenocortical hyperfunction. tmpaxzxjjyw_mondo_relaxed.owl hyperandrogenization syndrome DOID:11613|SCTID:237793004|EFO:0009006|MESH:D017588|UMLS:C0206081 owl:Class GO:0099699 biolink:NamedThing integral component of synaptic membrane The component of the synaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015390 biolink:NamedThing proboscis lateralis Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly. tmpaxzxjjyw_mondo_relaxed.owl congenital tubular nose UMLS:C4274985|SCTID:715828006|Orphanet:141099|ICD10:Q30.8 owl:Class GO:0031981 biolink:NamedThing nuclear lumen The volume enclosed by the nuclear inner membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000513 biolink:NamedThing bone ameloblastoma A ameloblastoma that involves the bone tissue. tmpaxzxjjyw_mondo_relaxed.owl ameloblastoma of bone tissue|bone tissue ameloblastoma DOID:0050895 owl:Class GO:0050309 biolink:NamedThing sugar-terminal-phosphatase activity Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. tmpaxzxjjyw_mondo_relaxed.owl sugar-omega-phosphate phosphohydrolase activity|xylitol-5-phosphatase activity owl:Class GO:0050308 biolink:NamedThing sugar-phosphatase activity Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. tmpaxzxjjyw_mondo_relaxed.owl sugar-phosphate phosphatase activity|sugar-phosphate phosphohydrolase activity owl:Class MONDO:0002641 biolink:NamedThing subclavian artery aneurysm A subclavian aneurysm is weakness or bulging in the wall of the subclavian artery, which is located below the collarbone. If the aneurysm ruptures, it can cause life-threatening, uncontrolled bleeding. Blood clots caused by the aneurysm can potentially lead to stroke or loss of fingers, the hand or, in rare cases, the entire arm. tmpaxzxjjyw_mondo_relaxed.owl SCTID:40136003|DOID:342|ICD9:442.82|UMLS:C0155746 Editor note: consider moving to HPO owl:Class FOODON:03460177 biolink:NamedThing plant seed or nut food product tmpaxzxjjyw_mondo_relaxed.owl nut or seed added http://www.langual.org/langual_thesaurus.asp?termid=H0177 LanguaL curation note: With the exception of peanut (see *PEANUT OR PEANUT BUTTER ADDED*), used when a nut or seed ingredient is the second ingredient in order of predominance. This disjunction is provided for food indexers who used the LanguaL category per guidelines. Currently, by specifying the more specific nut or seed as ingredient instead, this category can be inferred. owl:Class HGNC:7997 biolink:NamedThing NRG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1300 biolink:NamedThing Streptococcaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0005314 biolink:NamedThing relapsing-remitting multiple sclerosis The most common clinical variant of multiple sclerosis, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see optic neuritis), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914) tmpaxzxjjyw_mondo_relaxed.owl RRMS|Relapsing-remitting MS SCTID:426373005|DOID:2378|EFO:0003929|MESH:D020529|UMLS:C0751967 owl:Class MONDO:0005301 biolink:NamedThing multiple sclerosis A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers. tmpaxzxjjyw_mondo_relaxed.owl insular sclerosis|generalized multiple sclerosis OMIM:126200|NCIT:C3243|MESH:D009103|OMIM:612595|UMLS:C0026769|ICD10:G35|OMIM:612594|OMIM:614810|EFO:0003885|Orphanet:802|SCTID:24700007|DOID:2377|OMIM:612596|ICD9:340 owl:Class MONDO:0018486 biolink:NamedThing visual snow syndrome Visual snow syndrome is described as a persistent visual problem characterized by seeing snow-like dots. Migraines are a common symptom. Many people also see drifting blobs of varying size and shape (floaters), visual effects (entopic phenomenon), glare, halos, starbursts, trails, odd colors and shapes, and may have persistent recurrence of a visual image (palinopsia) and double vision. Additional symptoms may include fatigue, tinnitus, or depersonalization and depression. Most people have normal vision tests and normal brain images. Standard migraine treatments are often not helpful. There is no cure or effective treatment to completely relieve the symptoms, but medication seems to help some people with visual snow. tmpaxzxjjyw_mondo_relaxed.owl visual snow GARD:0012062|UMLS:CN237477|Orphanet:420556|ICD10:H53.8 https://rarediseases.info.nih.gov/diseases/12062/visual-snow-syndrome owl:Class UBERON:0003866 biolink:NamedThing middle phalanx of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011965 biolink:NamedThing familial temporal lobe epilepsy 2 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has material basis in variation in the chromosome region 12q22-q23.3. tmpaxzxjjyw_mondo_relaxed.owl temporal epilepsy, familial|ETL2|Ftle|epilepsy, familial temporal lobe, 2|familial temporal lobe epilepsy type 2|epilepsy, familial temporal lobe|familial temporal lobe epilepsy Orphanet:98819|GARD:0005135|MESH:C536956|ICD10:G40.2|OMIM:611631|OMIM:608096|DOID:0060755 owl:Class MONDO:0021941 biolink:NamedThing infection by Trypanosoma rhodesiense An infection with Trypanosoma brucei rhodesiense. tmpaxzxjjyw_mondo_relaxed.owl acute sleeping sickness|infection by trypanosoma rhodesiense|rhodesian sleeping sickness|rhodesian trypanosomiasis|infection caused by trypanosoma rhodesiense UMLS:C0041233|SCTID:42872003|ICD9:086.4|NCIT:C35085 owl:Class UBERON:0003480 biolink:NamedThing vein of clitoris tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009150 biolink:NamedThing hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterised by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia|another syndrome|ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia|HEDH syndrome|hypohidrotic ectodermal dysplasia with hypothyroidism|hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia|hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia Orphanet:1882|ICD10:Q82.4|MESH:C565604|GARD:0002049|OMIM:225050|SCTID:239050000 https://rarediseases.info.nih.gov/diseases/2049/hypohidrotic-ectodermal-dysplasia-with-hypothyroidism-and-ciliary-dyskinesia owl:Class MONDO:0009256 biolink:NamedThing galactorrhea Excessive or inappropriate lactation in females or males, and not necessarily related to pregnancy. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is hyperprolactinemia. tmpaxzxjjyw_mondo_relaxed.owl galactorrhea|galactorrhea (disease) galactorrhea (disease) MESH:D005687|HP:0100829|SCTID:78622004|NCIT:C113343|OMIM:230300|ICD9:611.6 owl:Class MONDO:0043349 biolink:NamedThing intravascular papillary endothelial hyperplasia A reactive, well-circumscribed vascular lesion. It is characterized by the formation of thin papillae projecting within the lumen of blood vessels. The papillae are lined by plump endothelial cells. Blood clots are also present. tmpaxzxjjyw_mondo_relaxed.owl Masson pseudotumor|Masson's vegetant intravascular hemangio-endothelioma|intravascular papillary endothelial hyperplasia|Masson's vegetant hemangioma|Masson's pseudoangiosarcoma|Masson's pseudotumor|Masson's tumor|papillary endothelial hyperplasia|Masson's pseudosarcoma|Masson lesion|masson's pseudosarcoma UMLS:C0343083|NCIT:C4391|SCTID:238770007|GARD:0010733 owl:Class MONDO:0100273 biolink:NamedThing glyceronephosphate O-acyltransferase deficiency Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene. tmpaxzxjjyw_mondo_relaxed.owl GNPAT deficiency|glyceronephosphate O-acyltransferase deficiency http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0001810 biolink:NamedThing hypoglossal nerve disorder A disease involving the hypoglossal nerve. tmpaxzxjjyw_mondo_relaxed.owl disorder of hypoglossal nerve|disorder of 12th nerve|twelfth nerve disorder|hypoglossal nerve disease|hypoglossal nerve disease or disorder|disease or disorder of hypoglossal nerve|hypoglossal nerve disorder|disease of hypoglossal nerve|disorder of hypoglossal [12th] nerve|disorder of XII nerve|disorder of the XII nerve MESH:D020437|ICD9:352.5|SCTID:24777009|ICD10:G52.3|NCIT:C26954|UMLS:C0152181|DOID:13814 owl:Class HP:0012210 biolink:NamedThing Abnormal renal morphology Any structural anomaly of the kidney. tmpaxzxjjyw_mondo_relaxed.owl Kidney malformation|Structural anomalies of the renal tract|Structural kidney abnormalities|Abnormal kidney morphology|Renal malformation|Structural renal anomalies|Abnormally shaped kidney|Kidney structure issue Fyler:4512|SNOMEDCT_US:44513007|UMLS:C0266292 peter 2013-03-14T07:41:11Z HP:0004735|HP:0000792|HP:0004726|HP:0008712 human_phenotype owl:Class HP:0000077 biolink:NamedThing Abnormality of the kidney An abnormality of the kidney. tmpaxzxjjyw_mondo_relaxed.owl Abnormal kidney|Renal anomaly|Abnormality of the kidney|Renal anomalies SNOMEDCT_US:44513007|UMLS:C0022658|MSH:D007674|SNOMEDCT_US:90708001|UMLS:C0266292 The kidney is a paired organ whose primary function is the production of urine. human_phenotype owl:Class MONDO:0012087 biolink:NamedThing primary ciliary dyskinesia 4 A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has material basis in variation in the chromosome region 15q13.1-q15.1. tmpaxzxjjyw_mondo_relaxed.owl CILD4|ciliary dyskinesia, primary, 4|ciliary dyskinesia, primary, 4, with or without situs inversus|primary ciliary dyskinesia 4 with or without situs inversus|primary ciliary dyskinesia type 4 DOID:0110614|UMLS:C1837616|MESH:C535279|ICD10:Q34.8|OMIM:608646 owl:Class MONDO:0009542 biolink:NamedThing lysine malabsorption syndrome tmpaxzxjjyw_mondo_relaxed.owl lysine malabsorption syndrome OMIM:247950|UMLS:C0796023|MESH:C563080 owl:Class MONDO:0013709 biolink:NamedThing intellectual disability, autosomal recessive 28 tmpaxzxjjyw_mondo_relaxed.owl MRT28|intellectual disability, autosomal recessive 28|mental retardation, autosomal recessive 28 OMIM:614347|UMLS:C3280545 owl:Class HGNC:16993 biolink:NamedThing SEC61B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020517 biolink:NamedThing eosinophilic granuloma A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes. tmpaxzxjjyw_mondo_relaxed.owl eosinophilic granuloma|Monostotic Langerhans cell histiocytosis|unifocal Langerhans cell histiocytosis|chronic and localized Langerhans cell histiocytosis|eosinophilic xanthomatous granuloma|chronic unifocal Langerhans cell histiocytosis ICD10:C96.6|SCTID:129000002|UMLS:C0014461|Orphanet:99871|NCIT:C3016|MedDRA:10014956|ICD9:277.89|ICDO:9752/1|MESH:D004803 owl:Class UBERON:0035014 biolink:NamedThing functional part of brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015929 biolink:NamedThing hexosaminidase activity Catalysis of the cleavage of hexosamine or N-acetylhexosamine residues (e.g. N-acetylglucosamine) residues from gangliosides or other glycoside oligosaccharides. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003717 biolink:NamedThing renal pelvis papillary tumor A papillary tumor originating in the renal pelvis. tmpaxzxjjyw_mondo_relaxed.owl renal pelvis papillary urothelial neoplasm|papillary neoplasm of renal pelvis|renal pelvis papillary tumor|papillary tumor of renal pelvis|papillary neoplasm of the renal pelvis|papillary tumor of the renal pelvis NCIT:C8603|UMLS:C0853688|DOID:5975 owl:Class MONDO:0003443 biolink:NamedThing papillary urothelial neoplasm A neoplastic lesion of the urinary tract transitional cell epithelium characterized by papillary formations. -- 2003 tmpaxzxjjyw_mondo_relaxed.owl inverted papilloma of urinary tract|urinary tract papillary transitional cell benign neoplasm|urothelium papillary epithelial neoplasm|papillary transitional cell neoplasm of the urinary tract|papillary urothelial neoplasm|urinary tract papillary transitional cell neoplasm NCIT:C27883|DOID:5433|UMLS:C1335329|UMLS:C1334282|NCIT:C6192 owl:Class MONDO:0017175 biolink:NamedThing Machado-Joseph disease type 2 Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs. tmpaxzxjjyw_mondo_relaxed.owl azorean disease, type ii|spinocerebellar ataxia, Thomas type|SCA3, Thomas type ICD10:G11.8|Orphanet:276241|SCTID:91954009 owl:Class HsapDv:0000103 biolink:NamedThing 9-year-old human stage Child stage that refers to a child who is over 9 and under 10 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010105 biolink:NamedThing teratoma, pineal tmpaxzxjjyw_mondo_relaxed.owl teratoma, pineal OMIM:273120|UMLS:C1848902|MESH:C537401 owl:Class MONDO:0010748 biolink:NamedThing torticollis-keloids-cryptorchidism-renal dysplasia syndrome Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. tmpaxzxjjyw_mondo_relaxed.owl Tkc|TKCR|Goeminne syndrome|torticollis keloids cryptorchidism renal dysplasia|torticollis, keloids, cryptorchidism, and renal dysplasia|Tkcr syndrome UMLS:C1839129|GARD:0005230|OMIM:314300|ICD10:Q87.8|MESH:C536970|Orphanet:3341 owl:Class HP:0000802 biolink:NamedThing Impotence Inability to develop or maintain an erection of the penis. tmpaxzxjjyw_mondo_relaxed.owl Difficulty getting a full erection|Difficulty getting an erection UMLS:C0242350|MSH:D007172|SNOMEDCT_US:397803000 human_phenotype owl:Class MONDO:0009134 biolink:NamedThing congenital dyserythropoietic anemia type 2 Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones. tmpaxzxjjyw_mondo_relaxed.owl congenital dyserythropoietic anemia type 2|hempas anemia|Cda 2|hereditary erythroblastic multinuclearity with Positive acidified-serum test|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)|CDA type II|anemia, congenital dyserythropoietic, type II|anemia, dyserythropoietic, congenital type 2|dyserythropoietic Anemia, congenital, type 2|dyserythropoietic Anemia, hempas type|CDA II|CDA type 2|CDAN2|anemia, congenital dyserythropoietic, type 2|SEC23B-CDG Orphanet:98873|DOID:0111401|GARD:0002001|ICD10:D64.4|ICD9:285.8|SCTID:68870007|OMIM:224100 owl:Class ENVO:01001091 biolink:NamedThing formation of a liquid aerosol from gaseous material in an atmosphere A process during which microscopic liquid droplets are formed from gaseous materials in an atmosphere. tmpaxzxjjyw_mondo_relaxed.owl formation of liquid particles from gaseous material in an atmosphere|formation of a liquid aerosol in the atmosphere|formation of liquid droplets from gaseous material in an atmosphere|formation of a liquid aerosol in an atmosphere|atmospheric formation of a liquid aerosol owl:Class HP:0012718 biolink:NamedThing Morphological abnormality of the gastrointestinal tract Abnormal structure of the gastrointestinal tract. tmpaxzxjjyw_mondo_relaxed.owl Abnormal shape of the digestive system|Morphological abnormality of the GI tract|Morphological anomaly of the digestive system UMLS:C4021073 peter 2014-03-23T01:09:02Z human_phenotype owl:Class MONDO:0004995 biolink:NamedThing cardiovascular disorder A disease involving the cardiovascular system. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of cardiovascular system|cardiovascular disease (CVD)|circulatory system disease|cardiovascular disease|cardiovascular system disease or disorder|disease of subdivision of hemolymphoid system|disorder of cardiovascular system|cardiovascular system disease|cardiovascular disorder|disease of cardiovascular system ICD9:429.81|ICD9:423|ICD9:429.7|ICD9:424|ICD9:459.89|ICD10:I00.I99|EFO:0000319|ICD9:429.8|MESH:D002318|ICD9:429.2|DOID:1287|ICD9:420-429.99|ICD9:429.89|UMLS:C0007222|NCIT:C2931|ICD9:423.8|ICD9:459.9|ICD9:390-459.99|ICD9:429|SCTID:49601007 owl:Class NCBITaxon:147573 biolink:NamedThing Piedraia hortae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147572 biolink:NamedThing Piedraia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014361 biolink:NamedThing autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures. tmpaxzxjjyw_mondo_relaxed.owl MRD26|autosomal dominant non-syndromic intellectual disability 26|autosomal dominant mental retardation 26|ASD due to AUTS2 deficiency|autism spectrum disorder due to AUTS2 deficiency|intellectual disability type 26|mental retardation, autosomal dominant type 26|mental retardation, autosomal dominant 26|AUTS2 syndrome DOID:0070056|UMLS:C4014435|OMIM:615834|Orphanet:352490|ICD10:F84.1 owl:Class UBERON:0001085 biolink:NamedThing skin of trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001015 biolink:NamedThing plant food product This class includes food products which are derived from or produced by a plant. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7856 biolink:NamedThing NQO2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014640 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 3 An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35. tmpaxzxjjyw_mondo_relaxed.owl frontotemporal dementia and/or amyotrophic lateral sclerosis type 3|frontotemporal dementia and/or amyotrophic lateral sclerosis 3|FTDALS3 Orphanet:803|DOID:0110068|Orphanet:275872|UMLS:C4225326|Orphanet:275864|OMIM:616437 owl:Class MONDO:0030077 biolink:NamedThing vertebral, cardiac, renal, and limb defects syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl Congenital Nad Deficiency Disorder 3|VCRL3|VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3|vertebral, cardiac, renal, and limb defects syndrome 3 OMIM:618845 owl:Class MONDO:0011400 biolink:NamedThing dilated cardiomyopathy 1G Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TTN gene. tmpaxzxjjyw_mondo_relaxed.owl familial isolated dilated cardiomyopathy caused by mutation in TTN|cardiomyopathy, dilated, type 1G|CMD1G|dilated cardiomyopathy type 1G|cardiomyopathy, dilated, 1G|TTN familial isolated dilated cardiomyopathy OMIM:604145|MESH:C565824|UMLS:C1858763|ICD10:I42.0|DOID:0110430 owl:Class MONDO:0001640 biolink:NamedThing gonococcal spondylitis An spondylitis caused by infection with Neisseria gonorrhoeae. tmpaxzxjjyw_mondo_relaxed.owl DOID:13127|SCTID:53664003|ICD9:098.53|UMLS:C0153219 owl:Class MONDO:0017761 biolink:NamedThing disorder of mineral absorption and transport tmpaxzxjjyw_mondo_relaxed.owl ICD10:E83.8|ICD10:E83.0|ICD10:E83.1|UMLS:CN227205|Orphanet:309836|ICD10:E83.4|ICD10:E83.5|ICD10:E83.9|ICD10:E83.2|ICD10:E83.3 owl:Class CL:0002149 biolink:NamedThing epithelial cell of uterus An epithelial cell of the uterus. tmpaxzxjjyw_mondo_relaxed.owl FMA:256161 tmeehan 2010-08-24T10:45:54Z CL:1000294 cell owl:Class FOODON:03414466 biolink:NamedThing tunicate Tunicates, previously known as *Urochordata* or urochordates, are members of the *Tunicata*, a subphylum of the phylum *Chordata*. They are marine filter feeders with a saclike morphology. In their respiration and feeding they take in water through an incurrent (or inhalant) siphon and expel the filtered water through an excurrent (or exhalant) siphon. Most adult tunicates are sessile and attached to rocks or similarly suitable surfaces on the ocean floor; others such as salps, doliolids and pyrosomes swim in the pelagic zone as adults. Various species are commonly known as sea squirts or sea pork. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013231 biolink:NamedThing Leber congenital amaurosis 14 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LRAT gene. tmpaxzxjjyw_mondo_relaxed.owl LRAT Leber congenital amaurosis|Leber congenital amaurosis 14|retinitis pigmentosa, juvenile, LRAT-related|Leber congenital amaurosis type 14|Leber congenital amaurosis caused by mutation in LRAT|retinal dystrophy, early-onset Severe, LRAT-related|LCA14 DOID:0110188|OMIM:613341|ICD10:H35.5|Orphanet:791|GARD:0010883|UMLS:C2750063|Orphanet:65|MESH:C567636 https://rarediseases.info.nih.gov/diseases/10883/leber-congenital-amaurosis-14 owl:Class HGNC:25843 biolink:NamedThing ZNF750 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007453 biolink:NamedThing maturity-onset diabetes of the young type 2 Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes. tmpaxzxjjyw_mondo_relaxed.owl MODY, type 2|MODY, glucokinase-related|maturity-onset diabetes of the young (disease) caused by mutation in GCK|glucokinase-associated diabetes mellitus|maturity-onset diabetes of the young, type 2|GCK maturity-onset diabetes of the young (disease)|MODY type 2|MODY 2 monogenic diabetes type 2|type 2 maturity-onset diabetes of the young|GCK-associated diabetes mellitus|diabetes mellitus MODY type 2|MODY glucokinase-related|maturity onset diabetes of the Young, type 2|MODY2 SCTID:237604008|OMIM:125851|Orphanet:552|DOID:0111100|NCIT:C129741|GARD:0010657 https://rarediseases.info.nih.gov/diseases/10657/maturity-onset-diabetes-of-the-young-type-2 owl:Class MONDO:0015836 biolink:NamedThing Bicervical bicornuate uterus with patent cervix and vagina tmpaxzxjjyw_mondo_relaxed.owl Orphanet:180111|ICD10:Q51.1 owl:Class MONDO:0015834 biolink:NamedThing didelphys uterus tmpaxzxjjyw_mondo_relaxed.owl Bicervical bicornuate uterus ICD10:Q51.1|MedDRA:10012770|ICD9:752.2|SCTID:15545001|Orphanet:180086 owl:Class MONDO:0009975 biolink:NamedThing reticulum cell sarcoma An antiquated term that refers to a non-Hodgkin lymphoma composed of diffuse infiltrates of large, often anaplastic lymphocytes. tmpaxzxjjyw_mondo_relaxed.owl large-cell Lymphomas|histiocytic lymphoma|Reticulum cell sarcoma|reticulosarcoma|reticular cell sarcoma|reticulum cell sarcoma|interdigitating cell sarcoma|sarcoma of reticular cell ICD10:C96.4|ICD9:200.0|MedDRA:10038804|ICD9:200.00|DOID:8538|OMIM:267730|ICD9:200.7|SCTID:373168002|NCIT:C27824|Orphanet:86900|EFO:0005287 Editor note: check this owl:Class MONDO:0021895 biolink:NamedThing temporomandibular joint dysfunction syndrome A common disorder noted with jaw movement. It may be caused by malocclusion, repetitive use injury, trauma or arthritis. It is more prevalent among females between their second and fourth decades. Clinical signs include preauricular pain, temporomandibular joint clicking (as the mandibular condyle slips from the articulation made with the capsular disc and temporal bone) and restriction of jaw motion. Clinical course is typically benign but may progress to associated headaches, ear and neck pain, tinnitus and dislocation of temporomandibular joint. Prognosis is favorable as a majority of cases will respond to conservative management. tmpaxzxjjyw_mondo_relaxed.owl TMJ syndrome|Temporomandibular joint syndrome|temporomandibular joint dysfunction syndrome|Syndrome, Costen's|Syndrome, TMJ|Snapping jaw|Mandibular dysfunction|Costen's syndrome|Costens Syndrome|Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint|TMJPDS - Temporomandibular joint pain dysfunction syndrome|Temporomandibular joint-pain-dysfunction syndrome|Costen Syndrome|Syndrome, Temporomandibular Joint|Costen's Syndrome|Costen's complex|Temporomandibular joint pain dysfunction syndrome|Joint Syndrome, Temporomandibular|Myofascial pain - dysfunction syndrome of TMJ|TMJ Syndrome|Temporomandibular Joint Dysfunction Syndrome|Temporomandibular Joint Syndrome MESH:D013706|UMLS:C0039496|NCIT:C35066 owl:Class MONDO:0005473 biolink:NamedThing temporomandibular joint disorder Any condition affecting the anatomic and functional characteristics of the temporomandibular joint. tmpaxzxjjyw_mondo_relaxed.owl TMD EFO:0005279|ICD9:524.69|NCIT:C63709|SCTID:41888000|MESH:D013705|ICD9:524.60 owl:Class NCBITaxon:10116 biolink:NamedThing Rattus norvegicus tmpaxzxjjyw_mondo_relaxed.owl Norway rat|rat|rats|brown rat GC_ID:1 NCBITaxon:36465 ncbi_taxonomy owl:Class ENVO:01001646 biolink:NamedThing amorphous solid A solid material which does not have a regularly organised internal structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:76969 biolink:NamedThing bacterial metabolite Any prokaryotic metabolite produced during a metabolic reaction in bacteria. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021317 biolink:NamedThing cancer of cerebellum A cancer that involves the cerebellum. tmpaxzxjjyw_mondo_relaxed.owl cerebellar tumor, malignant|malignant cerebellar neoplasms|cancer of the cerebellum|cerebellum cancer|malignant neoplasm of the cerebellum|cerebellar neoplasm, malignant|malignant tumor of the cerebellum|malignant neoplasm of cerebellum|cancer of cerebellum|malignant cerebellar tumor|cerebellar cancer|malignant cerebellar neoplasm|malignant tumor of cerebellum|malignant cerebellum neoplasm NCIT:C3569|ICD9:191.6|SCTID:449420002 owl:Class PATO:0001405 biolink:NamedThing anucleate A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000078 biolink:NamedThing acrocephalopolysyndactyly A common presentation of craniosynostosis and polysyndactyly. tmpaxzxjjyw_mondo_relaxed.owl ACPS SCTID:205260006|UMLS:C0687154 owl:Class MONDO:0056796 biolink:NamedThing obstructive nephropathy Renal damage and impaired renal function secondary to urinary tract obstruction. tmpaxzxjjyw_mondo_relaxed.owl obstructive nephropathy|congenital obstructive nephropathy NCIT:C120902|ICD9:593.89|SCTID:86249007|DOID:0070314|UMLS:C0149939 owl:Class CL:0000158 biolink:NamedThing club cell Epithelial progenitor cell of the lung. Club cells are dome-shaped with short microvilli but no cilia. They function to protect the bronchiolar epithelium. Club cells also multiply and differentiate into ciliated cells to regenerate the bronchiolar epithelium. tmpaxzxjjyw_mondo_relaxed.owl bronchiolar non-ciliated cell|club cell of bronchiole|Clara cell FMA:14119|BTO:0004811 cell owl:Class CL:0000157 biolink:NamedThing surfactant secreting cell A cell that specializes in secretion of surfactant in the alveoli of the lung. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0002907 biolink:NamedThing intracranial thrombosis Formation or presence of a blood clot (thrombus) in a blood vessel within the skull. Intracranial thrombosis can lead to thrombotic occlusions and brain infarction. The majority of the thrombotic occlusions are associated with atherosclerosis. tmpaxzxjjyw_mondo_relaxed.owl cerebral thrombosis SCTID:71444005|ICD9:434.00|MESH:D020767|UMLS:C0752143|ICD9:434.0|DOID:4193 owl:Class MONDO:0002604 biolink:NamedThing pericytic neoplasm A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. tmpaxzxjjyw_mondo_relaxed.owl Pericytic neoplasm|perivascular neoplasm|malignant perivascular cancer|Pericytic tumor|perivascular tumor NCIT:C6528|UMLS:C1335392|DOID:3316 owl:Class MONDO:0020059 biolink:NamedThing gonosome number anomaly tmpaxzxjjyw_mondo_relaxed.owl Sex-chromosome number anomaly 2022-04-01 Orphanet:98156 Reason: grouping class. Term to consider: MONDO:0700064 MONDO:0700064 owl:Class MONDO:0012130 biolink:NamedThing myofibrillar myopathy 2 Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene. tmpaxzxjjyw_mondo_relaxed.owl alpha-B crystallinopathy|myopathy, desmin-related, associated with mutation in the Cryab Gene|myofibrillar myopathy type 2|alpha-B crystallin-related late-onset distal myopathy|myopathy, myofibrillar, with or without cataract and/or cardiomyopathy|myopathy, myofibrillar, alpha-B crystallin-related|MFM2|CRYAB autosomal dominant distal myopathy|late-onset distal crystallinopathy|myopathy, myofibrillar, type 2|myopathy, myofibrillar, 2|autosomal dominant distal myopathy caused by mutation in CRYAB Orphanet:399058|DOID:0080093|UMLS:C1837317|ICD10:G71.0|Orphanet:98910|MESH:C563848|OMIM:608810 owl:Class GO:0006564 biolink:NamedThing L-serine biosynthetic process The chemical reactions and pathways resulting in the formation of L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. tmpaxzxjjyw_mondo_relaxed.owl L-serine synthesis|L-serine biosynthesis|L-serine anabolism|L-serine formation owl:Class GO:0009070 biolink:NamedThing serine family amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. tmpaxzxjjyw_mondo_relaxed.owl serine family amino acid anabolism|serine family amino acid synthesis|serine family amino acid formation|serine family amino acid biosynthesis owl:Class MONDO:0002684 biolink:NamedThing atypical choroid plexus papilloma A choroid plexus papilloma characterized by increased mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl atypical choroid plexus papilloma|atypical choroid plexus papilloma (morphologic abnormality)|atypical papilloma of choroid plexus|atypical CPP|ACPP ICDO:9390/1|Orphanet:251902|DOID:3544|UMLS:C1266176|ICD10:C71.5|ONCOTREE:ACPP|NCIT:C53686 owl:Class MONDO:0013528 biolink:NamedThing intellectual disability, autosomal recessive 14 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene. tmpaxzxjjyw_mondo_relaxed.owl MRT14|autosomal recessive non-syndromic intellectual disability caused by mutation in TECR|mental retardation, autosomal recessive type 14|intellectual disability, autosomal recessive type 14|TECR autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 14|intellectual disability, autosomal recessive 14 UMLS:C3151462|OMIM:614020 owl:Class MONDO:0003694 biolink:NamedThing ovarian clear cell cystadenofibroma A benign neoplasm of glandular epithelium characterized by the presence of clear or hobnail cells within a dense fibrous stroma and cystic structures. tmpaxzxjjyw_mondo_relaxed.owl clear cell cystadenofibroma of ovary|ovarian clear cell cystadenofibroma|ovary clear cell cystadenofibroma NCIT:C40086|UMLS:C1518695|DOID:5896 owl:Class UBERON:0003265 biolink:NamedThing chorionic mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:36043 biolink:NamedThing antimicrobial drug A drug used to treat or prevent microbial infections. tmpaxzxjjyw_mondo_relaxed.owl antimicrobial drugs owl:Class MONDO:0000813 biolink:NamedThing cardiac tuberculosis Pathological conditions of the cardiovascular system caused by infection of mycobacterium tuberculosis. Tuberculosis involvement may include the heart; the blood vessels; or the pericardium. tmpaxzxjjyw_mondo_relaxed.owl cardiovascular tuberculosis EFO:1001442|DOID:0060570|MESH:D014381|UMLS:C0041308 owl:Class MONDO:0009767 biolink:NamedThing oculocerebral hypopigmentation syndrome, Cross type Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia. tmpaxzxjjyw_mondo_relaxed.owl oculocerebral syndrome with hypopigmentation|Cross syndrome|oculocerebral hypopigmentation syndrome|hypopigmentation oculocerebral syndrome Cross type|Kramer syndrome GARD:0000105|Orphanet:2719|OMIM:257800|ICD10:E70.3|SCTID:17827007|ICD9:759.89 owl:Class CHEBI:51958 biolink:NamedThing organic polycyclic compound tmpaxzxjjyw_mondo_relaxed.owl organic polycyclic compounds owl:Class UBERON:0003318 biolink:NamedThing mesenchyme of elbow tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:715962 biolink:NamedThing dothideomyceta tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009572 biolink:NamedThing lumen of central canal of spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013606 biolink:NamedThing Hermansky-Pudlak syndrome 9 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene. tmpaxzxjjyw_mondo_relaxed.owl BLOC1S6 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in BLOC1S6|Hermansky-Pudlak syndrome type 9|HPS9|Hermansky-Pudlak syndrome 9 OMIM:614171|Orphanet:280663|UMLS:C3280026|Orphanet:79430|DOID:0060547|ICD10:E70.3 owl:Class ENVO:01001310 biolink:NamedThing liquid surface layer A surface layer which is composed primarily of some liquid. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044337 biolink:NamedThing stromal sarcoma A malignant neoplasm characterized by the presence of atypical mesenchymal-stromal cells. Representative examples include endometrial stromal sarcoma and prostate stromal sarcoma. tmpaxzxjjyw_mondo_relaxed.owl stromal tumor, malignant|stromal sarcoma, malignant|stromal sarcoma NCIT:C6926|UMLS:C1370723|ICDO:8935/3 owl:Class MONDO:0011668 biolink:NamedThing maturity-onset diabetes of the young type 6 Monogenic diabetes caused by inactivating mutation(s) in the gene NEUROD1, encoding neurogenic differentiation 1. In addition to diabetes, this condition may be associated with neurogenic anomalies. Homozygous NEUROD1 mutations result in permanent neonatal diabetes. tmpaxzxjjyw_mondo_relaxed.owl NEUROD1-associated monogenic diabetes|MODY type 6|maturity-onset diabetes of the young, type 6|MODY6|MODY, type 6|diabetes mellitus MODY type 6|type 6 maturity-onset diabetes of the young|maturity onset diabetes of the Young, type 6|neurogenic differentiation Factor 1-associated monogenic diabetes|MODY NEUROD1 related|NEUROD1 maturity-onset diabetes of the young (disease)|maturity-onset diabetes of the young (disease) caused by mutation in NEUROD1 Orphanet:552|OMIM:606394|DOID:0111104|UMLS:C1853371|NCIT:C129745|SCTID:609573005|MESH:C565231|GARD:0010660 https://rarediseases.info.nih.gov/diseases/10660/maturity-onset-diabetes-of-the-young-type-6 owl:Class HGNC:804 biolink:NamedThing ATP1B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000349 biolink:NamedThing limbic system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012219 biolink:NamedThing spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type UMLS:C1836584|OMIM:609223|MESH:C563772 owl:Class CHEBI:25367 biolink:NamedThing molecule Any polyatomic entity that is an electrically neutral entity consisting of more than one atom. tmpaxzxjjyw_mondo_relaxed.owl molecule|molecules|molecula|neutral molecular compounds|Molekuel owl:Class HP:0040069 biolink:NamedThing Abnormal lower limb bone morphology tmpaxzxjjyw_mondo_relaxed.owl Abnormal shape of bones of the lower limbs|Abnormal morphology of bones of the lower limbs|Abnormality of lower limb bone UMLS:C4022455|UMLS:C4022457 HPO:skoehler HP:0040066 human_phenotype owl:Class MONDO:0000891 biolink:NamedThing mixed fibrolamellar hepatocellular carcinoma A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. tmpaxzxjjyw_mondo_relaxed.owl DOID:0080182 owl:Class MONDO:0006210 biolink:NamedThing fibrolamellar hepatocellular carcinoma A distinctive type of liver cell carcinoma that arises in non-cirrhotic livers and is seen predominantly in young patients. The tumor cells are polygonal and deeply eosinophilic, and are embedded in a fibrous stroma. The prognosis is similar to classical hepatocellular carcinoma that arises in non-cirrhotic livers, and better than hepatocellular carcinoma that arises in cirrhotic livers. tmpaxzxjjyw_mondo_relaxed.owl fibrolamellar oncocytic hepatoma|hepatocellular fibrolamellar carcinoma|fibrolamellar hepatocarcinoma|FHCC|polygonal cell type hepatocellular carcinoma with fibrous Stroma|eosinophilic glassy cell hepatoma|fibrolamellar hepatocellular carcinoma|hepatocellular carcinoma, fibrolamellar|oncocytic hepatocellular tumor|eosinophilic hepatocellular carcinoma with lamellar fibrosis|liver cell fibrolamellar carcinoma|fibrolamellar cancer|polygonal cell hepatocellular carcinoma with fibrous stroma|hepatocellular carcinoma with increased stromal fibrosis|FLC|fibrolamellar carcinoma of liver cells|FL-HCC|fibrolamellar carcinoma|hepatocellular carcinoma (fibrolamellar variant)|fibrolamellar variant of hepatocellular carcinoma|fibrolamellar carcinoma of the liver cells NCIT:C4131|ONCOTREE:FLC|Orphanet:401920|ICDO:8171/3|MESH:C537258|UMLS:C0334287|GARD:0009396|DOID:5015|ICD10:C22.0|SCTID:253018005|EFO:1000256 owl:Class MONDO:0054736 biolink:NamedThing mosaic variegated aneuploidy syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl MVA3|MOSAIC variegated aneuploidy syndrome 3 OMIM:617598 owl:Class UBERON:0000423 biolink:NamedThing eccrine sweat gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009181 biolink:NamedThing epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy. tmpaxzxjjyw_mondo_relaxed.owl limb-girdle muscular dystrophy with epidermolysis bullosa simplex|epidermolysis bullosa simplex and limb-girdle muscular dystrophy|MD-EBS|EBSMD|epidermolysis bullosa simplex with muscular dystrophy|epidermolysis bullosa simplex - limb girdle muscular dystrophy|Epidermolysa bullosa simplex and limb girdle muscular dystrophy|Epidermolysa bullosa simplex with muscular dystrophy|MDEBS|EBS-MD DOID:0090017|GARD:0002137|UMLS:C2931072|SCTID:723308003|MESH:C535955|ICD10:Q81.0|OMIM:226670|Orphanet:257 https://rarediseases.info.nih.gov/diseases/2137/epidermolysa-bullosa-simplex-with-muscular-dystrophy owl:Class GO:0004860 biolink:NamedThing protein kinase inhibitor activity Binds to and stops, prevents or reduces the activity of a protein kinase, an enzyme which phosphorylates a protein. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009345 biolink:NamedThing histidinemia Histidinemia is a rare metabolic disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions. tmpaxzxjjyw_mondo_relaxed.owl HIS deficiency|Histidinuria|histidinemia|Hal deficiency|hyperhistidinemia|histidase deficiency|histidinuria|histidine ammonia-lyase deficiency UMLS:C0220992|Orphanet:2157|ICD10:E70.8|DOID:0060168|GARD:0006661|ICD10:E70.41|OMIM:235800|SCTID:410058007|MESH:C538320 https://rarediseases.info.nih.gov/diseases/6661/histidinemia owl:Class MONDO:0013760 biolink:NamedThing congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome tmpaxzxjjyw_mondo_relaxed.owl congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome|ichthyosis, spastic quadriplegia, and mental retardation|ichthyosis, spastic quadriplegia, and intellectual disability|ISQMR ICD10:Q80.8|Orphanet:352333|OMIM:614457|UMLS:C3280856 owl:Class MONDO:0017927 biolink:NamedThing severe lateral tibial bowing with short stature Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204066|ICD10:Q68.4|SCTID:766819001|Orphanet:324307 owl:Class HGNC:12910 biolink:NamedThing MKRN3-AS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009135 biolink:NamedThing purine nucleoside diphosphate metabolic process The chemical reactions and pathways involving purine nucleoside diphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with diphosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine nucleoside diphosphate metabolism owl:Class CL:0000393 biolink:NamedThing electrically responsive cell A cell whose function is determined by its response to an electric signal. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0015439 biolink:NamedThing ring chromosome 4 Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. tmpaxzxjjyw_mondo_relaxed.owl Ring 4|Ring chromosome 4 syndrome|rose cluster 4|chromosome 4 ring|R4|r(4) syndrome|syndrome r(4)|Ring chromosome type 4 NCIT:C121983|MESH:C537636|Orphanet:1447|SCTID:81678004|GARD:0001339|ICD10:Q93.2 https://rarediseases.info.nih.gov/diseases/1339/ring-chromosome-4 owl:Class MONDO:0043468 biolink:NamedThing acne keloid A chronic eruption of fibrous papules that develop and fuse to form a thick sclerotic, hypertrophic band at a site of deep folliculitis, usually along the posterior hairline of the scalp. It is most commonly seen in men of African descent. tmpaxzxjjyw_mondo_relaxed.owl nuchae, lichen Keloidalis|Capillitii, dermatitis papillaris|keloid acne, nuchal|folliculitis Keloidalis nuchae|nuchae, folliculitis Keloidalis|Capillitius, dermatitis papillaris|keloid, acne|keloid Acnes, nuchal|folliculitis Keloidalis|nuchal keloid acne|acne keloid|keloids, acne|acne, nuchal keloid|papillaris Capillitii, dermatitis|dermatitis papillaris Capillitii|lichen Keloidalis nuchae|keloidal acne|keloidal folliculitis|papillaris Capillitius, dermatitis|Acnes, nuchal keloid|keloidal Acnes|Keloidalis nuchae, folliculitis|nuchal keloid Acnes|acne Keloidalis|Keloidalis nuchae, lichen|dermatitis papillaris Capillitius|acne keloids|acne, keloidal UMLS:C0001145|SCTID:238746008|MESH:D000153|EFO:1001256|NCIT:C34346 owl:Class MONDO:0005348 biolink:NamedThing keloid An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively. tmpaxzxjjyw_mondo_relaxed.owl SCTID:33659008|ICD9:701.4|NCIT:C3145|EFO:0004212|MESH:D007627 owl:Class MONDO:0017528 biolink:NamedThing polydactyly of an index finger, bilateral tmpaxzxjjyw_mondo_relaxed.owl preaxial polydactyly type 3, bilateral ICD10:Q69.0|Orphanet:295154|UMLS:CN203259 owl:Class MONDO:0019776 biolink:NamedThing Juberg-Marsidi syndrome Juberg-Marsidi syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpaxzxjjyw_mondo_relaxed.owl juberg Marsidi syndrome SCTID:721875000|OMIM:309580|Orphanet:93972 owl:Class NCBITaxon:138 biolink:NamedThing Borrelia tmpaxzxjjyw_mondo_relaxed.owl Relapsing Fever Borrelia PMID:31454394|PMID:31722850|PMID:31836459|PMID:27930271|PMID:8863416|PMID:24744012|PMID:28141502|GC_ID:11|PMID:30154058|PMID:32320380|PMID:30586413|PMID:8863409 ncbi_taxonomy owl:Class NCBITaxon:1643685 biolink:NamedThing Borreliaceae tmpaxzxjjyw_mondo_relaxed.owl PMID:23908650|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0009907 biolink:NamedThing Prepapillary vascular loops tmpaxzxjjyw_mondo_relaxed.owl preretinal vascular loops|Prepapillary vascular loops SCTID:424728002|OMIM:264060|MESH:C563287 owl:Class MONDO:0012824 biolink:NamedThing hypomyelinating leukodystrophy 4 Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial Hsp60 chaperonopathy|Mitchap60 disease|hypomyelinating leukodystrophy type 4|leukodystrophy, hypomyelinating, 4|HSPD1 leukodystrophy|leukodystrophy, hypomyelinating, type 4|mitochondrial HSP60 chaperonopathy|HLD4|MitCHAP60 disease|leukodystrophy caused by mutation in HSPD1|Pelizaeus-Merzbacher-like disease due to HSPD1 mutation MESH:C567390|ICD10:E75.2|OMIM:612233|Orphanet:280270|UMLS:C2677109|Orphanet:280288|DOID:0060789 owl:Class CL:0002372 biolink:NamedThing myotube A transversely striated, synctial muscle cell, formed by the fusion of myoblasts. tmpaxzxjjyw_mondo_relaxed.owl single cell sarcomere|myotubule tmeehan 2010-09-24T01:13:01Z CL:0000369 cell owl:Class CL:0000187 biolink:NamedThing muscle cell A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns. tmpaxzxjjyw_mondo_relaxed.owl muscle fiber|myocyte FMA:67328|WBbt:0003675|BTO:0000902|CALOHA:TS-2032|BTO:0000888|FBbt:00005074 cell owl:Class UBERON:0035838 biolink:NamedThing esophagogastric junction mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008905 biolink:NamedThing predisposition to invasive fungal disease due to CARD9 deficiency tmpaxzxjjyw_mondo_relaxed.owl CARD9 immunodeficiency|candidiasis, familial, 2|CARD9 deficiency|CANDF2|candidiasis familial chronic mucocutaneous, autosomal recessive|candidiasis, familial, type 2|invasive candidiasis-deep dermatophytosis syndrome|candidiasis, familial chronic mucocutaneous, autosomal recessive ICD10:D84.8|GARD:0001077|OMIM:212050|Orphanet:457088|UMLS:C1859353 owl:Class HGNC:3257 biolink:NamedThing EIF2B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011367 biolink:NamedThing Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia A hereditary disorder characterized by disproportionate short stature, a relatively large head, and a long triangular face early in life. This phenotype later evolves to one with in which the head is relatively small, the mandible is large and pointy. The affected individuals have normal cognitive abilities and lack any neurological deficits. Other typical features include a prominent nose, a voice with an unusual high-pitched sound, relatively small ears, curved digits (clinodactyly), short bones in fingers and toes (brachydactyly), small hands, underdeveloped (hypoplastic) fingernails, a waddling gait, and sparse hair post-pubertally. tmpaxzxjjyw_mondo_relaxed.owl acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia|acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia UMLS:C1863556|OMIM:603740|GARD:0010076|MESH:C538181 https://rarediseases.info.nih.gov/diseases/10076/acrodysplasia-with-ossification-abnormalities-short-stature-and-fibular-hypoplasia owl:Class CHEBI:46662 biolink:NamedThing mineral In general, a mineral is a chemical substance that is normally crystalline formed and has been formed as a result of geological processes. The term also includes metamict substances (naturally occurring, formerly crystalline substances whose crystallinity has been destroyed by ionising radiation) and can include naturally occurring amorphous substances that have never been crystalline ('mineraloids') such as georgite and calciouranoite as well as substances formed by the action of geological processes on bigenic compounds ('biogenic minerals'). tmpaxzxjjyw_mondo_relaxed.owl mineral|mineraux|minerales|minerals|Minerale owl:Class NCBITaxon:4753 biolink:NamedThing Pneumocystis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011107 biolink:NamedThing congenital hypotrichosis with juvenile macular dystrophy A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness. tmpaxzxjjyw_mondo_relaxed.owl juvenile macular degeneration and hypotrichosis|hypotrichosis with juvenile macular dystrophy|Hjmd|hypotrichosis with cone-rod dystrophy|HJMD|juvenile macular dystrophy and congenital hypotrichosis|hypotrichosis with juvenile macular degeneration|hypotrichosis, congenital, with juvenile macular dystrophy OMIM:601553|MESH:C537698|GARD:0003066|ICD10:Q84.0|UMLS:C1832162|Orphanet:1573|DOID:0110711 owl:Class HGNC:4620 biolink:NamedThing GSN tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045920 biolink:NamedThing negative regulation of exocytosis Any process that stops, prevents, or reduces the frequency, rate or extent of exocytosis. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of exocytosis|down regulation of exocytosis|downregulation of exocytosis|inhibition of exocytosis owl:Class MONDO:0005766 biolink:NamedThing fungal lung infectious disease Pulmonary diseases caused by fungal infections, usually through hematogenous spread. tmpaxzxjjyw_mondo_relaxed.owl lung disease, fungal|fungal lung disease|fungal diseases, pulmonary|pulmonary fungal disease|Fungi lung disease|fungal infections, pulmonary|pulmonary fungal infection|fungal lung diseases|pulmonary fungal infections|Fungi caused lung disease|fungal disease, pulmonary|pulmonary fungal diseases|fungal infection, pulmonary UMLS:C0024116|MESH:D008172|EFO:0007278 owl:Class MONDO:0030033 biolink:NamedThing seizures, early-onset, with neurodegeneration and brain calcifications tmpaxzxjjyw_mondo_relaxed.owl SENEBAC|SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS|seizures, early-onset, with neurodegeneration and brain calcifications OMIM:618875 owl:Class MONDO:0001367 biolink:NamedThing chronic congestive splenomegaly Chronic form of congestive splenomegaly. tmpaxzxjjyw_mondo_relaxed.owl congestive splenomegaly, chronic SCTID:191382009|UMLS:C0398661|ICD10:D73.2|ICD9:289.51|DOID:11787 owl:Class MONDO:0037251 biolink:NamedThing congestive splenomegaly tmpaxzxjjyw_mondo_relaxed.owl banti syndrome|congestive splenomegaly|banti's spleen|fibrocongestive splenomegaly SCTID:19058002 owl:Class MONDO:0023164 biolink:NamedThing viral pericarditis Pericarditis that is caused by an infection with a viral agent. tmpaxzxjjyw_mondo_relaxed.owl Viral pericarditis|Viral Pericarditis|viral pericarditis SCTID:70189005|UMLS:C0276139|NCIT:C128405 owl:Class CHEBI:35230 biolink:NamedThing fossil fuel A fuel such as coal, oil and natural gas which has formed over many years through the decomposition of deposited vegetation which was under extreme pressure of an overburden of earth. tmpaxzxjjyw_mondo_relaxed.owl fossil fuel owl:Class MONDO:0011568 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 25 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 25|autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8|SLC17A8 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 25|deafness, autosomal dominant 25|deafness, autosomal dominant type 25|DFNA25|autosomal dominant nonsyndromic deafness type 25 OMIM:605583|ICD10:H90.3|MESH:C565319|Orphanet:90635|UMLS:C1854158|DOID:0110555 owl:Class MONDO:0009732 biolink:NamedThing congenital nephrotic syndrome, Finnish type Congenital nephrotic syndrome, Finnish type is characterised by protein loss beginning during foetal life. tmpaxzxjjyw_mondo_relaxed.owl CnF|congenital nephrotic syndrome, Finnish type|Finnish congenital nephrosis|nephrotic syndrome, type 1|congenital nephrotic syndrome - Finnish type|NPHS1|nephrosis, congenital|nephrotic syndrome - NPHS1 associated|congenital nephrotic syndrome 1|nephrotic syndrome, congenital|nephrosis 1, congenital, Finnish type|congenital nephrotic syndrome Finnish type ICD10:N04.8|UMLS:C0403399|NCIT:C122795|GARD:0001500|MedDRA:10060740|OMIM:256300|Orphanet:839|SCTID:197601003 https://rarediseases.info.nih.gov/diseases/1500/congenital-nephrotic-syndrome-finnish-type owl:Class UBERON:0009744 biolink:NamedThing lymph node medullary sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012783 biolink:NamedThing RFT1-CDG RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1). tmpaxzxjjyw_mondo_relaxed.owl congenital disorder of glycosylation type 1n|Man5GlcNAc2-PP-Dol flippase deficiency|CDG-In|RFT1-CDG (CDG-In)|CDG1N|congenital disorder of glycosylation, type In|carbohydrate deficient glycoprotein syndrome type In|congenital disorder of glycosylation type In|CDGIN|CDG syndrome type In|CDG in OMIM:612015|Orphanet:244310|UMLS:C2677590|MESH:C567437|ICD10:E77.8|GARD:0012394|SCTID:733084000|DOID:0080566 owl:Class UBERON:0013727 biolink:NamedThing notochordal fluid tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011390 biolink:NamedThing Morphological abnormality of the inner ear A structural anomaly of the internal part of the ear. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023381 The inner ear contains the cochlea and the semicircular canals. hecht 2012-03-09T04:59:24Z human_phenotype owl:Class HP:0000359 biolink:NamedThing Abnormality of the inner ear An abnormality of the inner ear. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the inner ear|Inner ear abnormality UMLS:C4021809 human_phenotype owl:Class GO:1905278 biolink:NamedThing positive regulation of epithelial tube formation Any process that activates or increases the frequency, rate or extent of epithelial tube formation. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of epithelial tube formation|activation of epithelial tube formation|upregulation of epithelial tube formation|up regulation of epithelial tube formation owl:Class UBERON:0010341 biolink:NamedThing 1st arch mesenchyme from head mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014608 biolink:NamedThing mandibulofacial dysostosis with alopecia A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. tmpaxzxjjyw_mondo_relaxed.owl mandibulofacial dysostosis with alopecia|MFDA UMLS:C4225349|ICD10:Q75.4|DOID:0060365|Orphanet:443995|OMIM:616367 owl:Class HGNC:7876 biolink:NamedThing NOS3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002108 biolink:NamedThing thyroid cancer A malignant neoplasm involving the thyroid gland tmpaxzxjjyw_mondo_relaxed.owl malignant thyroid gland tumor|malignant tumor of the thyroid|malignant thyroid neoplasm|malignant tumor of thyroid gland|malignant neoplasm of the thyroid|thyroid gland cancer|neoplasm of thyroid gland|thyroid gland neoplasm|malignant neoplasm of the thyroid gland|cancer of thyroid gland|malignant neoplasm of thyroid|malignant tumour of thyroid gland|malignant thyroid tumor|malignant thyroid gland neoplasm|malignant tumor of the thyroid gland|malignant neoplasm of thyroid gland|malignant tumor of thyroid ICD9:193|DOID:1781|UMLS:CN221577|KEGG:05216|NCIT:C7510|SCTID:363478007|SCTID:127018007|ICD10:C73 owl:Class MONDO:0013155 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 tmpaxzxjjyw_mondo_relaxed.owl congenital muscular dystrophy-POMGNT1 related|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3|muscular dystrophy, congenital, POMGNT1-related|MDDGB3 Orphanet:370959|UMLS:C3150412|OMIM:613151 owl:Class MONDO:0003628 biolink:NamedThing pulmonary valve disorder A disease involving the pulmonary valve. tmpaxzxjjyw_mondo_relaxed.owl pulmonary valve disease|disease or disorder of pulmonary valve|pulmonary valve disorder|disease of pulmonary valve|disorder of pulmonary valve|pulmonary valve disease or disorder UMLS:C0034087|NCIT:C78579|ICD9:424.3|DOID:5749|SCTID:76267008 owl:Class MONDO:0005078 biolink:NamedThing phyllodes tumor A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors. tmpaxzxjjyw_mondo_relaxed.owl phyllodes neoplasm|CSP|phyllodes tumor|cystosarcoma phyllodes MESH:D003557|NCIT:C2977|EFO:0000653 Note that this class covers both breast and prostate phyllodes tumors owl:Class UBERON:0007240 biolink:NamedThing tunica adventitia of artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013865 biolink:NamedThing mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia. tmpaxzxjjyw_mondo_relaxed.owl COXPD10|mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency|combined oxidative phosphorylation deficiency caused by mutation in MTO1|combined oxidative phosphorylation defect type 10|combined oxidative phosphorylation deficiency 10|cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|combined oxidative phosphorylation deficiency type 10|MTO1 combined oxidative phosphorylation deficiency ICD10:I42.2|DOID:0111480|Orphanet:314637|UMLS:C3553529|OMIM:614702 owl:Class UBERON:0001113 biolink:NamedThing lobe of liver tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009912 biolink:NamedThing anatomical lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33402 biolink:NamedThing sulfur oxoacid tmpaxzxjjyw_mondo_relaxed.owl oxoacids of sulfur|sulfur oxoacids owl:Class UBERON:0003596 biolink:NamedThing ankle connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003595 biolink:NamedThing pes connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6447 biolink:NamedThing KRT9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010559 biolink:NamedThing MASA syndrome MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia 1, X-linked|spastic paraplegia 1|intellectual disability aphasia shuffling Gait adducted thumbs (MASA)|crash syndrome|intellectual disability, aphasia, shuffling Gait, and adducted thumbs|X-linked complicated hereditary spastic paraplegia type 1|thumb congenital clasped with intellectual disability|adducted thumb with intellectual disability|MASA syndrome|X-linked corpus callosum agenesis|hereditary spastic paraplegia 1|mental retardation, aphasia, shuffling Gait, and adducted thumbs|mental retardation aphasia shuffling Gait adducted thumbs (MASA)|spastic paraplegia, X-linked|thumb, congenital Clasped, with intellectual disability|Clasped thumb and intellectual disability|X-linked spastic paraplegia 1|thumb congenital clasped with mental retardation|Clasped thumb and mental retardation|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|thumb, congenital Clasped, with mental retardation|Gareis-Mason syndrome|adducted thumb with mental retardation SCTID:716996008|UMLS:C0795953|GARD:0006986|DOID:0060246|ICD10:G11.4|Orphanet:2466|NCIT:C129930|Orphanet:275543|OMIM:303350 owl:Class MONDO:0020339 biolink:NamedThing X-linked complex spastic paraplegia tmpaxzxjjyw_mondo_relaxed.owl complicated X-linked HSP|Complex X-linked HSP|complicated X-linked SPG|Complex X-linked SPG|X-linked complicated spastic paraplegia Orphanet:98888|ICD10:G11.4 owl:Class UBERON:0001517 biolink:NamedThing skin of elbow tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002427 biolink:NamedThing arm skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060562 biolink:NamedThing epithelial tube morphogenesis The process in which the anatomical structures of a tube are generated and organized from an epithelium. Epithelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10593 biolink:NamedThing SCN5A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006108 biolink:NamedThing bile duct adenoma A benign, well-demarcated polypoid neoplasm arising from the bile duct epithelium. According to the growth pattern, it is classified as tubular, papillary, or tubulopapillary. Adenomas arising from the extrahepatic bile ducts usually produce symptoms related to biliary obstruction. tmpaxzxjjyw_mondo_relaxed.owl adenoma of the bile duct|Hepatocholangiocellular adenoma|Cholangioadenoma|Hepatocholangioma|bile duct adenoma|CHOLANGIOMA, benign|adenoma of bile duct|bile duct adenoma (morphologic abnormality)|Cholangioma ICDO:8160/0|NCIT:C2942|SCTID:424091006|DOID:5381|UMLS:C0008309|MESH:D002759|EFO:1000123 owl:Class MONDO:0009873 biolink:NamedThing pilodental dysplasia-refractive errors syndrome Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985. tmpaxzxjjyw_mondo_relaxed.owl Euhidrotic ectodermal dysplasia|Kopysc-Barczyk-Krol syndrome|Trichodental dysplasia with hyperopia|PILODENTAL dysplasia with refractive errors OMIM:262020|Orphanet:2892|UMLS:C1849805|GARD:0000277|MESH:C535763 owl:Class MONDO:0004252 biolink:NamedThing small intestinal L-cell glucagon-like peptide producing tumor A neuroendocrine tumor that arises from the small intestine and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. tmpaxzxjjyw_mondo_relaxed.owl small intestinal L-cell glucagon-like peptide-producing neuroendocrine tumor|small intestinal L-cell, glucagon-like peptide-producing neuroendocrine tumor|L-cell glucagon-like peptide-producing neuroendocrine tumor of small intestine|small intestinal L-cell glucagon-like peptide-producing NET|small intestine L-cell glucagon-like peptide-producing neuroendocrine tumor NCIT:C27452|DOID:7506|UMLS:C3274143 owl:Class NCBITaxon:83158 biolink:NamedThing Sarcoptoidea tmpaxzxjjyw_mondo_relaxed.owl Listrophoroidea|Psoroptoidea GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:223472 biolink:NamedThing Psoroptidia tmpaxzxjjyw_mondo_relaxed.owl Sarcoptidia GC_ID:1 NCBITaxon:261182 ncbi_taxonomy owl:Class MONDO:0006388 biolink:NamedThing prolactin-producing pituitary gland carcinoma A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces prolactin. tmpaxzxjjyw_mondo_relaxed.owl malignant prolactin producing neoplasm of the pituitary gland|malignant prolactin secreting neoplasm of pituitary|malignant prolactin secreting tumor of the pituitary|malignant prolactinoma|malignant prolactin secreting pituitary neoplasm|malignant prolactin producing tumor of the pituitary gland|malignant prolactin producing tumor of the pituitary|malignant prolactin producing pituitary neoplasm|malignant prolactin producing neoplasm of the pituitary|malignant prolactin producing neoplasm of pituitary gland|malignant prolactinoma of the pituitary|malignant prolactin producing pituitary gland neoplasm|malignant prolactinoma of the pituitary gland|malignant prolactinoma of pituitary|prolactin producing pituitary gland carcinoma|prolactin-producing pituitary gland carcinoma|malignant prolactin secreting neoplasm of the pituitary|malignant prolactin secreting pituitary gland tumor|malignant prolactin secreting neoplasm of the pituitary gland|malignant prolactin secreting tumor of pituitary gland|malignant prolactin secreting tumor of the pituitary gland|malignant prolactin secreting tumor of pituitary|malignant pituitary gland prolactinoma|malignant prolactin producing tumor of pituitary|malignant prolactinoma of pituitary gland|malignant pituitary prolactinoma|malignant prolactin secreting pituitary gland neoplasm|malignant prolactin producing tumor of pituitary gland|malignant prolactin producing pituitary tumor|malignant prolactin producing pituitary gland tumor|malignant prolactin producing neoplasm of pituitary|malignant prolactin secreting neoplasm of pituitary gland|malignant prolactin secreting pituitary tumor|malignant prolactin producing tumor|PRL producing pituitary gland carcinoma UMLS:C1334614|NCIT:C5962|EFO:1000497 owl:Class GO:0050973 biolink:NamedThing detection of mechanical stimulus involved in equilibrioception The series of events involved in equilibrioception in which a mechanical stimulus is received and converted into a molecular signal. During equilibrioception, mechanical stimuli may be in the form of input from pressure receptors or from the labyrinth system of the inner ears. tmpaxzxjjyw_mondo_relaxed.owl equilibrioception, sensory detection of mechanical stimulus|equilibrioception, sensory transduction of mechanical stimulus|sensory transduction of mechanical stimulus during equilibrioception|sensory detection of mechanical stimulus during equilibrioception|equilibrioception, detection of mechanical stimulus owl:Class GO:0046649 biolink:NamedThing lymphocyte activation A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012432 biolink:NamedThing Joubert syndrome 5 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene. tmpaxzxjjyw_mondo_relaxed.owl CEP290 Joubert syndrome|JBTS5|Joubert syndrome caused by mutation in CEP290|Joubert syndrome type 5|Joubert syndrome 5 Orphanet:2318|OMIM:610188|MESH:C537688|UMLS:C1857780|DOID:0111000 owl:Class MONDO:0043683 biolink:NamedThing Leriche syndrome An atherosclerotic disorder of the peripheral vascular system affecting mostly males in their later decades. It is caused by thrombotic occlusion of the abdominal aorta just above the level of the bifurcation. Clinical signs include impotence, intermittent claudication, diminished femoral pulses and cold, pallid lower extremities. Prognosis is favorable with surgical or endovascular intervention. tmpaxzxjjyw_mondo_relaxed.owl syndrome, Leriche|Leriche syndrome|Leriche's syndrome|Leriches syndrome|syndrome, Leriche's|leriche's syndrome MESH:D007925|SCTID:307816004|UMLS:C0023370|NCIT:C34773 owl:Class HGNC:7207 biolink:NamedThing MPDU1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003042 biolink:NamedThing adult mesenchymal chondrosarcoma A mesenchymal chondrosarcoma occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl adult mesenchymal chondrosarcoma|mesenchymal chondrosarcoma of adults NCIT:C27375|DOID:4547|UMLS:C1332207 owl:Class MONDO:0006853 biolink:NamedThing mesenchymal chondrosarcoma A morphologic variant of chondrosarcoma arising from bone and soft tissue. It is characterized by the presence of malignant small round cells, biphasic growth pattern, and well differentiated hyaline cartilage. Clinical presentation includes pain and swelling. The clinical course is aggressive, with local recurrences and distant metastases. tmpaxzxjjyw_mondo_relaxed.owl mesenchymal chondrosarcoma EFO:1001041|DOID:4545|UMLS:C0206637|ICDO:9240/3|ONCOTREE:MCHS|MESH:D018211|MedDRA:10027389|NCIT:C3737 owl:Class MONDO:0044033 biolink:NamedThing posterior leukoencephalopathy syndrome An acute or subacute reversible condition characterized by headaches, mental status changes, visual disturbances, and seizures associated with imaging findings of posterior leukoencephalopathy. It has been observed in association with hypertensive encephalopathy, eclampsia, and immunosuppressive and cytotoxic drug treatment. tmpaxzxjjyw_mondo_relaxed.owl RPLE|PRES|leukoencephalopathy syndrome, Posterior|leukoencephalopathy syndromes, Posterior|syndrome, Posterior leukoencephalopathy|reversible Posterior cerebral edema syndrome|syndromes, Posterior leukoencephalopathy|reversible posterior leukoencephalopathy syndrome|posterior reversible encephalopathy syndrome|Posterior reversible encephalopathy syndrome|reversible Posterior leukoencephalopathy syndrome|reversible occipital parietal encephalopathy SCTID:450886002|EFO:1001804|NCIT:C78598|MESH:D054038 owl:Class MONDO:0006796 biolink:NamedThing hypertensive encephalopathy Encephalopathy resulting from hypertension. tmpaxzxjjyw_mondo_relaxed.owl SCTID:50490005|MESH:D020343|DOID:9427|ICD10:I67.4|ICD9:437.2|EFO:1000976|UMLS:C0151620|MedDRA:10020803|NCIT:C3503 owl:Class MONDO:0004177 biolink:NamedThing benign urethral neoplasm Abnormal growth of the cells of the urethra (lower urinary tract) without malignant characteristics. tmpaxzxjjyw_mondo_relaxed.owl urethral benign neoplasm|benign urethra neoplasm|benign urethral tumor|neoplasm. urethra|benign urethral neoplasm|benign neoplasm of urethra|benign tumor of urethra|benign neoplasm of the urethra|urethra benign neoplasm|benign urethra tumor|benign tumor of the urethra NCIT:C3428|ICD9:223.81|DOID:730|SCTID:92466006|NCIT:C3619 owl:Class UBERON:0004533 biolink:NamedThing left testis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014306 biolink:NamedThing vasculitis due to ADA2 deficiency Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency. tmpaxzxjjyw_mondo_relaxed.owl childhood-onset polyarteritis nodosa|adenosine deaminase 2 deficiency|polyarteritis nodosa, childhood-onset|DADA2|ADA2 deficiency|vasculitis due to DADA2|PAN GARD:0012383|Orphanet:404553|OMIM:615688|ICD10:M30.8 owl:Class HGNC:2212 biolink:NamedThing COL6A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005728 biolink:NamedThing extraembryonic mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014233 biolink:NamedThing early-onset Parkinson disease 20 Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene. tmpaxzxjjyw_mondo_relaxed.owl early-onset Parkinson disease type 20|Parkinson disease 20, early-onset|early-onset Parkinson's disease 20|Parkinson disease caused by mutation in SYNJ1|PARK20|SYNJ1 Parkinson disease OMIM:615530|Orphanet:391411|UMLS:C3809824|DOID:0060898 owl:Class MONDO:0014282 biolink:NamedThing hereditary spastic paraplegia 72 Any pure hereditary spastic paraplegia in which the cause of the disease is a mutation in the REEP2 gene. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia 72, autosomal dominant|hereditary spastic paraplegia type 72|SPG72|autosomal spastic paraplegia type 72|pure hereditary spastic paraplegia caused by mutation in REEP2|spastic paraplegia 72, autosomal recessive|REEP2 pure hereditary spastic paraplegia UMLS:C3810160|Orphanet:401849|OMIM:615625|ICD10:G11.4|DOID:0110817 Editor note: This class covers either AD or AR. in ORDO this is classified as *both* AD and AR. This would cause inconsistencies here, so we are neutral about the inheritance owl:Class UBERON:0006287 biolink:NamedThing radius-ulna pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010884 biolink:NamedThing forelimb bone pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1385 biolink:NamedThing Bacillales tmpaxzxjjyw_mondo_relaxed.owl Bacillus/Staphylococcus group GC_ID:11 ncbi_taxonomy owl:Class MONDO:0008301 biolink:NamedThing Guttmacher syndrome Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias|preaxial deficiency, postaxial polydactyly and hypospadias|Guttmacher syndrome|preaxial deficiency, postaxial polydactyly, and hypospadias|preaxial deficiency-postaxial polydactyly-hypospadias syndrome UMLS:C1867801|DOID:0111544|SCTID:722452004|OMIM:176305|MESH:C538278|Orphanet:2957|ICD10:Q87.2|GARD:0004470 owl:Class GO:0003008 biolink:NamedThing system process A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. tmpaxzxjjyw_mondo_relaxed.owl organ system process owl:Class HP:0040194 biolink:NamedThing Increased head circumference An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. tmpaxzxjjyw_mondo_relaxed.owl Increased head circumference UMLS:C4083076 human_phenotype owl:Class HP:0000240 biolink:NamedThing Abnormality of skull size Any abnormality of the size of the skull. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of head size|Abnormality of cranium size|Abnormality of skull size UMLS:C4025874 human_phenotype owl:Class MONDO:0012332 biolink:NamedThing short stature-delayed bone age due to thyroid hormone metabolism deficiency Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported. tmpaxzxjjyw_mondo_relaxed.owl thyroid hormone metabolism, abnormal ICD10:E03.1|UMLS:C1864761|OMIM:609698|Orphanet:171706|MESH:C566454 owl:Class MONDO:0011138 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 1 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the TLR5 gene. tmpaxzxjjyw_mondo_relaxed.owl TLR5 systemic lupus erythematosus (disease)|SLEB1|susceptibility to systemic lupus erythematosus 1|systemic lupus erythematosus (disease) caused by mutation in TLR5|systemic lupus erythematosus, susceptibility to, 1|systemic lupus erythematosus, susceptibility to, type 1|systemic lupus erythematosus, resistance to, 1 OMIM:601744 owl:Class MONDO:0024327 biolink:NamedThing chronic renal failure syndrome Impairment of the renal function due to chronic kidney damage. tmpaxzxjjyw_mondo_relaxed.owl kidney failure, chronic|Chronic renal disease|CRF - chronic renal failure|chronic renal failure disease|chronic kidney failure|chronic renal failure UMLS:C0022661|NCIT:C9438|SCTID:90688005|ICD9:585.9|MESH:D051436 owl:Class CL:0000029 biolink:NamedThing neural crest derived neuron tmpaxzxjjyw_mondo_relaxed.owl neuron neural crest derived cell owl:Class HGNC:18762 biolink:NamedThing SLC36A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012480 biolink:NamedThing diabetes mellitus, transient neonatal, 2 Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene. tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, transient neonatal, 2|Tndm2|transient neonatal diabetes mellitus (disease) caused by mutation in ABCC8|ABCC8 transient neonatal diabetes mellitus (disease)|diabetes mellitus, transient neonatal, type 2 MESH:C563672|UMLS:C1835887|SCTID:609580007|Orphanet:99886|OMIM:610374 owl:Class MONDO:0020525 biolink:NamedThing transient neonatal diabetes mellitus Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients. tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, 6q24-related transient neonatal|diabetes mellitus, transient neonatal|transient neonatal diabetes mellitus|transient neonatal diabetes mellitus (disease)|chromosome 6-associated transient diabetes mellitus|TNDM transient neonatal diabetes mellitus (disease) SCTID:237603002|ICD10:P70.2|Orphanet:99886|DOID:0060334|OMIM:601410|GARD:0001839|OMIM:610374|OMIM:610582|HP:0008255|NCIT:C114899 owl:Class MONDO:0018529 biolink:NamedThing qualitative or quantitative defects of Torsin-1A-interacting protein 1 tmpaxzxjjyw_mondo_relaxed.owl qualitative or quantitative defects of Torsin-1A-interacting protein type 1 Orphanet:424925 owl:Class CHEBI:25216 biolink:NamedThing metalloporphyrin tmpaxzxjjyw_mondo_relaxed.owl metaloporphyrins|metalloporphyrins owl:Class MONDO:0018906 biolink:NamedThing follicular lymphoma Follicular lymphoma is a form of non-Hodgkin lymphoma characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved. tmpaxzxjjyw_mondo_relaxed.owl follicular non-Hodgkin's lymphoma|follicle center lymphoma|follicular centre cell lymphoma|lymphoma, follicular centre cell|follicular non-Hodgkin lymphoma|lymphoma, follicular|lymphoma, follicular, malignant ICD10:C82.3|HGNC:990|Orphanet:545|ICD10:C82.7|ICDO:9690/3|DOID:0050873|ICD10:C82.6|ICD10:C82.0|UMLS:C0024301|GARD:0002356|ICD10:C82.4|MESH:D008224|SCTID:308121000|NCIT:C3209|ONCOTREE:FL|ICD10:C82.1|ICD10:C82.9|ICD10:C82.2|ICD10:C82.5|OMIM:613024 https://rarediseases.info.nih.gov/diseases/2356/follicular-lymphoma owl:Class CHEBI:35406 biolink:NamedThing oxoanion An oxoanion is an anion derived from an oxoacid by loss of hydron(s) bound to oxygen. tmpaxzxjjyw_mondo_relaxed.owl oxoanion|oxoacid anions|oxoanions owl:Class CHEBI:33273 biolink:NamedThing polyatomic anion An anion consisting of more than one atom. tmpaxzxjjyw_mondo_relaxed.owl polyatomic anions owl:Class MONDO:0007747 biolink:NamedThing isolated hyperchlorhidrosis tmpaxzxjjyw_mondo_relaxed.owl hyperchlorhidrosis, isolated|isolated hyperchlorhidrosis Orphanet:542657|OMIM:143860|ICD9:276.9|DOID:0111371|SCTID:709413001 owl:Class MONDO:0042724 biolink:NamedThing macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations tmpaxzxjjyw_mondo_relaxed.owl Volcke Soekarman syndrome GARD:0000172 owl:Class HGNC:30668 biolink:NamedThing SRPX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3528 biolink:NamedThing F10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019231 biolink:NamedThing manual digit 1 or 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016609 biolink:NamedThing inflammatory myopathy with abundant macrophages Inflammatory myopathy with abundant macrophages is a rare inflammatory myopathy characterized by diffuse destructive infiltration of CD68+ macrophages into the fascia rather than muscle fibers in muscle biopsies, proximal muscle weakness and myalgia with or without scaly dermatomyositis-like or atypical non-dermatomyositis-like skin lesions, elevation of creatine kinase levels and thickening of muscle fascia in muscle MRI. tmpaxzxjjyw_mondo_relaxed.owl imam SCTID:766706007|ICD10:G72.4|Orphanet:247718|UMLS:CN201809 owl:Class MONDO:0044768 biolink:NamedThing vagus nerve paraganglioma A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia in the vagus nerve. Patients may present with a slow growing, painless mass in the neck, hoarseness, vocal cord paralysis, and dysphagia. tmpaxzxjjyw_mondo_relaxed.owl paraganglioma of the vagal body|paraganglioma of the vagus nerve|paraganglioma of vagus nerve|vagus nerve paraganglioma|vagal body paraganglioma|vagal paraganglioma|paraganglioma of vagal body NCIT:C8427|EFO:1000621|SCTID:253030004|UMLS:CN036786|GARD:0008620 owl:Class MONDO:0011960 biolink:NamedThing schizophrenia 11 A schizophrenia that has material basis in a mutation on chromosome 10q22.3. tmpaxzxjjyw_mondo_relaxed.owl schizophrenia susceptibility locus, chromosome 10Q-related|schizophrenia 11|schizophrenia type 11|SCZD11|Sczd11 OMIM:608078|UMLS:C1842605|DOID:0070087 owl:Class GO:1900426 biolink:NamedThing positive regulation of defense response to bacterium Any process that activates or increases the frequency, rate or extent of defense response to bacterium. tmpaxzxjjyw_mondo_relaxed.owl activation of defense response to bacteria|up-regulation of defense response to bacterium|positive regulation of antibacterial peptide activity|up regulation of defense response to bacteria|up-regulation of defence response to bacterium|activation of resistance response to pathogenic bacteria|up-regulation of defence response to bacteria|activation of defence response to bacteria|positive regulation of defense response to bacteria|positive regulation of defense response to bacterium, incompatible interaction|positive regulation of defence response to bacteria|up-regulation of antibacterial peptide activity|up regulation of defence response to bacteria|activation of defence response to bacterium|upregulation of antibacterial peptide activity|positive regulation of defence response to bacterium|activation of antibacterial peptide activity|up regulation of defence response to bacterium|upregulation of defence response to bacterium|upregulation of defense response to bacterium|up regulation of defense response to bacterium|up regulation of antibacterial peptide activity|upregulation of defence response to bacteria|activation of resistance response to pathogenic bacterium|activation of defense response to bacterium|upregulation of defense response to bacteria|up-regulation of defense response to bacteria owl:Class HP:0002733 biolink:NamedThing Abnormality of the lymph nodes A lymph node abnormality. tmpaxzxjjyw_mondo_relaxed.owl Abnormal lymph node histology|Abnormality of the lymph nodes UMLS:C0149727 HP:0008149 human_phenotype owl:Class HP:0100763 biolink:NamedThing Abnormality of the lymphatic system An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. tmpaxzxjjyw_mondo_relaxed.owl Lymphatic disease SNOMEDCT_US:111590001|SNOMEDCT_US:234087005|UMLS:C4021976|MSH:D008206|SNOMEDCT_US:362971004|UMLS:C0024228|SNOMEDCT_US:3305006 doelkens 2011-06-07T10:40:36Z HP:0003012 human_phenotype owl:Class MONDO:0019434 biolink:NamedThing systemic-onset juvenile idiopathic arthritis Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio. tmpaxzxjjyw_mondo_relaxed.owl systemic onset juvenile idiopathic arthritis|sJIA|systemic onset juvenile rheumatoid arthritis|systemic-onset JIA|Still's disease (formerly)|systemic juvenile idiopathic arthritis|systemic polyarthritis|Still disease|SoJIA MESH:C565798|SCTID:201796004|OMIM:604302|ICD10:M08.2|Orphanet:85414|GARD:0010966|EFO:1001999|NCIT:C119031 https://rarediseases.info.nih.gov/diseases/10966/systemic-onset-juvenile-idiopathic-arthritis owl:Class MONDO:0007374 biolink:NamedThing Schnyder corneal dystrophy Schnyder corneal dystrophy (SCD) is a rare form of stromal corneal dystrophy characterized by corneal clouding or crystals within the corneal stroma, and a progressive decrease in visual acuity. tmpaxzxjjyw_mondo_relaxed.owl SCCD|crystalline stromal dystrophy|hereditary crystalline stromal dystrophy of Schnyder|Schnyder crystalline corneal dystrophy|corneal dystrophy, Schnyder|corneal dystrophy crystalline of Schnyder|Schnyder crystalline dystrophy sine crystals|corneal dystrophy, crystalline, of Schnyder|SCD|Schnyder corneal dystrophy Orphanet:98967|OMIM:121800|SCTID:419395007|MESH:C535475|ICD10:H18.5|DOID:0060456|GARD:0009277 owl:Class HGNC:19082 biolink:NamedThing NALCN tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12382 biolink:NamedThing TSPYL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr12p biolink:NamedThing 12p (Human) tmpaxzxjjyw_mondo_relaxed.owl 35500000 0 hg38 owl:Class MONDO:0032932 biolink:NamedThing mitochondrial DNA depletion syndrome 18 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL DNA DEPLETION SYNDROME 18|MTDPS18 OMIM:618811 owl:Class GO:0045901 biolink:NamedThing positive regulation of translational elongation Any process that activates or increases the frequency, rate or extent of translational elongation. tmpaxzxjjyw_mondo_relaxed.owl stimulation of translational elongation|upregulation of translational elongation|up regulation of translational elongation|up-regulation of translational elongation|activation of translational elongation owl:Class MONDO:0021486 biolink:NamedThing benign neoplasm of ciliary body A benign neoplasm that involves the ciliary body. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the ciliary body|benign tumor of the ciliary body|benign ciliary body neoplasm|benign ciliary body tumor|ciliary body benign neoplasm|benign tumor of ciliary body UMLS:C0496894|NCIT:C4779|ICD9:224.0|SCTID:92060009 owl:Class MONDO:0021485 biolink:NamedThing benign neoplasm of iris A benign neoplasm that involves the iris. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the iris|iris benign neoplasm|benign tumor of the iris|benign iris tumor|benign iris neoplasm|benign tumor of iris SCTID:189151003|ICD9:224.0|UMLS:C0346374|NCIT:C4555 owl:Class CHEBI:50818 biolink:NamedThing hematite tmpaxzxjjyw_mondo_relaxed.owl hematite|blood stone|hematita|Blutstein|oligist|oligiste|haematite|Haematit owl:Class MONDO:0011033 biolink:NamedThing type 1 diabetes mellitus 13 A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 2q34. tmpaxzxjjyw_mondo_relaxed.owl insulin-dependent diabetes mellitus 13|IDDM13|diabetes mellitus, insulin-dependent, 13 DOID:0110752|ICD10:E10|UMLS:C1832474|MESH:C563352|OMIM:601318 owl:Class UBERON:0003294 biolink:NamedThing gland of foregut tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0032263 biolink:NamedThing Increased blood pressure Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. tmpaxzxjjyw_mondo_relaxed.owl Increased BP 2019-01-27 20:07:59+00:00 peter human_phenotype owl:Class HGNC:17820 biolink:NamedThing NT5C3A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000306 biolink:NamedThing trichosporonosis Fungal infections caused by trichosporon that may become systemic especially in an immunocompromised host. Clinical manifestations range from superficial cutaneous infections to systemic lesions in multiple organs. tmpaxzxjjyw_mondo_relaxed.owl Trichosporon infectious disease|Trichosporon caused disease or disorder|Trichosporon disease or disorder UMLS:C0343939|DOID:0050290|SCTID:240761008|MESH:D060586 owl:Class MONDO:0045033 biolink:NamedThing opportunistic systemic mycosis A mycosis that arises from infection in an immunologically compromised host and is systemic. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006518 biolink:NamedThing peptide metabolic process The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. tmpaxzxjjyw_mondo_relaxed.owl peptide metabolism owl:Class UBERON:0013699 biolink:NamedThing strand of axillary hair tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1550 biolink:NamedThing CBS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020167 biolink:NamedThing malposition of external canthus tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98576|ICD10:Q10.3 owl:Class GO:1903579 biolink:NamedThing negative regulation of ATP metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of ATP metabolic process. tmpaxzxjjyw_mondo_relaxed.owl down regulation of ATP metabolism|down regulation of ATP metabolic process|negative regulation of ATP metabolism|downregulation of ATP metabolic process|inhibition of ATP metabolism|downregulation of ATP metabolism|down-regulation of ATP metabolism|down-regulation of ATP metabolic process|inhibition of ATP metabolic process owl:Class ENVO:01000033 biolink:NamedThing oceanic pelagic zone biome The oceanic epipelagic zone biome comprises the marine water column offshore, beyond a continental shelf. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009515 biolink:NamedThing Norum disease Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme. tmpaxzxjjyw_mondo_relaxed.owl familial LCAT deficiency|lecithin acyltransferase deficiency|lecithin:cholesterol acyltransferase deficiency|Norum disease|LCAT deficiency|complete LCAT deficiency|FLD OMIM:245900|UMLS:CN205883|Orphanet:79293|GARD:0004011|SCTID:238091006|SCTID:49227001|DOID:1391|ICD10:E78.6|Orphanet:650|NCIT:C84813 owl:Class HGNC:26114 biolink:NamedThing EDC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001138 biolink:NamedThing carbon dioxide ice Ice which is primarily composed of carbon dioxide. tmpaxzxjjyw_mondo_relaxed.owl dry ice owl:Class ENVO:01001125 biolink:NamedThing ice An ice is an environmental material which is either frozen or which is maintained in a solid state by gravitational forces or pressure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3819 biolink:NamedThing FOXO1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6340 biolink:NamedThing Annelida tmpaxzxjjyw_mondo_relaxed.owl segmented worms|annelid worms GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021060 biolink:NamedThing RASopathy Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. tmpaxzxjjyw_mondo_relaxed.owl Ras protein signal transduction disease|RASopathy|disorder of Ras protein signal transduction EFO:1001502|Orphanet:536391 owl:Class GO:0002716 biolink:NamedThing negative regulation of natural killer cell mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of natural killer cell mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl down regulation of natural killer cell mediated immunity|inhibition of natural killer cell mediated immunity|negative regulation of NK cell activity|negative regulation of NK cell mediated immunity|downregulation of natural killer cell mediated immunity|down-regulation of natural killer cell mediated immunity|negative regulation of natural killer cell activity owl:Class MONDO:0006868 biolink:NamedThing neurogenic bowel Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body. tmpaxzxjjyw_mondo_relaxed.owl ICD9:564.81|MESH:D055496|UMLS:C0695242|EFO:1001061|ICD10:K59.2|DOID:13419|SCTID:425671009|MedDRA:10048657 owl:Class MONDO:0017310 biolink:NamedThing Marfan and Marfan-related disorder tmpaxzxjjyw_mondo_relaxed.owl Orphanet:284993|UMLS:CN227112 owl:Class MONDO:0010498 biolink:NamedThing MEND syndrome tmpaxzxjjyw_mondo_relaxed.owl MEND|Male EBP disorder with neurologic defects|MEND syndrome|Male EBP disorder with neurological defects ICD10:Q87.8|Orphanet:401973|UMLS:C4085243|OMIM:300960 owl:Class MONDO:0019768 biolink:NamedThing X-linked intellectual disability, Golabi-Ito-hall type Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206703|Orphanet:93947 owl:Class MONDO:0004630 biolink:NamedThing substance-induced psychosis tmpaxzxjjyw_mondo_relaxed.owl DOID:8646|ICD9:293.89 owl:Class MONDO:0004316 biolink:NamedThing acantholytic squamous cell skin carcinoma A histologic variant of squamous cell carcinoma that arises from the skin. It is characterized by loosening of the intercellular bridges between the malignant cells which results in acantholysis. tmpaxzxjjyw_mondo_relaxed.owl acantholytic squamous cell carcinoma of the skin|acantholytic squamous cell skin carcinoma|acantholytic squamous cell carcinoma of skin SCTID:254654004|UMLS:C0345979|NCIT:C4460|DOID:7643 owl:Class MONDO:0013264 biolink:NamedThing amyotrophic lateral sclerosis type 12 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene. tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis type 12|OPTN amyotrophic lateral sclerosis|ALS12|amyotrophic lateral sclerosis caused by mutation in OPTN|amyotrophic lateral sclerosis 12 UMLS:C3150692|DOID:0060203|Orphanet:803|OMIM:613435 owl:Class MONDO:0016220 biolink:NamedThing congenital temporomandibular joint ankylosis Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported. tmpaxzxjjyw_mondo_relaxed.owl congenital trismus Orphanet:210576|SCTID:763215008|ICD10:K07.6 owl:Class UBERON:0016398 biolink:NamedThing lymph node of lower limb tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005720 biolink:NamedThing hindbrain venous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018199 biolink:NamedThing new-onset refractory status epilepticus New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences. tmpaxzxjjyw_mondo_relaxed.owl De novo cryptogenic refractory multifocal febrile status epilepticus|New onset refractory status epilepticus|Norse Orphanet:363558|ICD10:G41.8|GARD:0012244 owl:Class MONDO:0010745 biolink:NamedThing beta-thalassemia-X-linked thrombocytopenia syndrome Beta-thalassemia - X-linked thrombocytopenia is a form of beta-thalassemia characterized by splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and mild beta-thalassemia. tmpaxzxjjyw_mondo_relaxed.owl thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis|XLTT|X-linked thrombocytopenia with Beta-thalassemia|thrombocytopenia with BETA-thalassemia, X-linked DOID:0111767|OMIM:314050|UMLS:C1839161|MESH:C564050|Orphanet:231393|ICD10:D69.4|SCTID:718196002|NCIT:C134941 owl:Class MONDO:0034106 biolink:NamedThing developmental and epileptic encephalopathy, 73 tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 73|rnf13-related severe early-onset epileptic encephalopathy|DEE73 Orphanet:544503|OMIM:618379 owl:Class GO:0090024 biolink:NamedThing negative regulation of neutrophil chemotaxis Any process that decreases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043123 biolink:NamedThing massa casaer ceulemans syndrome tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis multiplex congenita associated with lissencephaly UMLS:C2931090|MESH:C536031|GARD:0003407 owl:Class HGNC:24116 biolink:NamedThing RNASEH2C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054866 biolink:NamedThing sudden arrhythmia death syndrome tmpaxzxjjyw_mondo_relaxed.owl sudden cardiac death due to cardiac arrhythmia|sudden arrhythmic death syndrome|SADS UMLS:C2721586|GARD:0009434|SCTID:735686002 owl:Class MONDO:0007264 biolink:NamedThing sudden cardiac arrest An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms. tmpaxzxjjyw_mondo_relaxed.owl disorder of cardiac conduction|cardiac conduction Disorder|cardiac conduction defect|conduction disorder|familial sudden death|heart conduction disorder|sudden cardiac death EFO:0004278|Orphanet:871|NCIT:C78245|OMIM:115080|SCTID:95281009|NCIT:C50911 Change to current cardiac arrthymia parent requested and confirmed as a correct use of is-a by James Ware, cardiac expert. owl:Class MONDO:0001265 biolink:NamedThing schizophreniform disorder A disorder that differs from schizophrenia specifically in total duration (schizophreniform disorder lasts at least 1 month but less than 6 months whereas schizophrenia lasts at least 6 months); schizophreniform disorder also typically causes less impairment in the individual's social and occupational functioning. tmpaxzxjjyw_mondo_relaxed.owl ICD9:295.4|ICD10:F20.81|DOID:11328|NCIT:C94376|SCTID:88975006 owl:Class MONDO:0003723 biolink:NamedThing blunt duct adenosis of breast Breast adenosis characterized by the presence of ducts with distended lumen and columnar cell metaplasia. tmpaxzxjjyw_mondo_relaxed.owl breast blunt duct adenosis|blunt duct adenosis of the breast UMLS:C1332573|DOID:5996|NCIT:C6941 owl:Class MONDO:0032900 biolink:NamedThing neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements tmpaxzxjjyw_mondo_relaxed.owl NEDHAHM|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS OMIM:618760 owl:Class CHEBI:25699 biolink:NamedThing organic ion tmpaxzxjjyw_mondo_relaxed.owl organic ions owl:Class MONDO:0007837 biolink:NamedThing Johnson neuroectodermal syndrome Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. tmpaxzxjjyw_mondo_relaxed.owl alopecia anosmia deafness hypogonadism syndrome|alopecia-anosmia-deafness-hypogonadism syndrome|Johnson neuroectodermal syndrome|Aadh syndrome|Johnson-McMillin syndrome|alopecia-anosmia-conductive hearing loss-hypogonadism syndrome GARD:0000378|Orphanet:2316|UMLS:C0796002|OMIM:147770|MESH:C535882|SCTID:721584005|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/378/johnson-neuroectodermal-syndrome owl:Class MONDO:0016678 biolink:NamedThing maternal disease-related embryofetopathy tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201921|Orphanet:251535 owl:Class MONDO:0006887 biolink:NamedThing parametritis Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the broad ligament. tmpaxzxjjyw_mondo_relaxed.owl pelvic cellulitis|inflammation of parametrium|parametrium inflammation SCTID:280483007|EFO:1001084|MESH:D010249|DOID:1260|UMLS:C0030455 owl:Class MONDO:0002957 biolink:NamedThing sarcomatoid basal cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl skin sarcomatoid basal cell carcinoma DOID:4303|NCIT:C38111|UMLS:C1519182 owl:Class GO:0001804 biolink:NamedThing negative regulation of type III hypersensitivity Any process that stops, prevents, or reduces the rate of type III hypersensitivity, a type of inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl inhibition of type III hypersensitivity|downregulation of type III hypersensitivity|down regulation of type III hypersensitivity|down-regulation of type III hypersensitivity owl:Class GO:0002887 biolink:NamedThing negative regulation of myeloid leukocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl downregulation of myeloid leukocyte mediated immunity|inhibition of myeloid leukocyte mediated immunity|down-regulation of myeloid leukocyte mediated immunity|down regulation of myeloid leukocyte mediated immunity owl:Class UBERON:0001425 biolink:NamedThing pectoral lymphatic vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019949 biolink:NamedThing zebra body myopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:97240|ICD10:G71.2|ICD9:359.89|SCTID:34513009|UMLS:C0270969 owl:Class MONDO:0021151 biolink:NamedThing non-genetic tmpaxzxjjyw_mondo_relaxed.owl non-genomic owl:Class HGNC:2799 biolink:NamedThing GRHL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045923 biolink:NamedThing positive regulation of fatty acid metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. tmpaxzxjjyw_mondo_relaxed.owl up regulation of fatty acid metabolic process|activation of fatty acid metabolic process|stimulation of fatty acid metabolic process|positive regulation of fatty acid metabolism|upregulation of fatty acid metabolic process|up-regulation of fatty acid metabolic process owl:Class HGNC:6106 biolink:NamedThing FOXP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2195 biolink:NamedThing COL18A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004217 biolink:NamedThing upper arm nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021071 biolink:NamedThing laryngeal neoplasm A benign or malignant neoplasm involving the larynx. tmpaxzxjjyw_mondo_relaxed.owl larynx tumor|neoplasm of larynx|larynx neoplasm|neoplasm of the larynx|larynx neoplasm (disease)|tumor of larynx|tumor of the larynx|laryngeal neoplasm|laryngeal tumor UMLS:C0023055|EFO:0003817|NCIT:C3156|SCTID:126692004|MESH:D007822 owl:Class MONDO:0001499 biolink:NamedThing retroperitoneal lymphoma A lymphoma that involves the retroperitoneal space. tmpaxzxjjyw_mondo_relaxed.owl primary retroperitoneal lymphoma|retroperitoneal space lymphoma|retroperitoneal lymphoma|lymphoma of retroperitoneal space DOID:12339|SCTID:422853008|NCIT:C7353|UMLS:C1335779 owl:Class MONDO:0005941 biolink:NamedThing retroperitoneal cancer A primary or metastatic malignant neoplasm involving the retroperitoneum. The vast majority of cases are carcinomas, lymphomas, or sarcomas. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of peritoneum and retroperitoneum|retroperitoneal neoplasm|malignant retroperitoneal neoplasm|neoplasm of retroperitoneum|malignant retroperitoneal space neoplasm|malignant neoplasm of retroperitoneum and peritoneum|neoplasm of the retroperitoneum|malignant neoplasm of retroperitoneum|cancer of retroperitoneal space|retroperitoneal space cancer|malignant neoplasm of retroperitoneal space|tumor of retroperitoneum|malignant retroperitoneal cancer ICD9:158|NCIT:C3537|ICD10:C48|ICD10:C48.0|ICD9:158.0|SCTID:126872008|MESH:D012186|DOID:5875|EFO:0007466 owl:Class UBERON:0006076 biolink:NamedThing caudal region of vertebral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000219 biolink:NamedThing motile cell A cell that moves by its own activities. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0009139 biolink:NamedThing dyssegmental dysplasia, Rolland-Desbuquois type tmpaxzxjjyw_mondo_relaxed.owl dyssegmental dwarfism, Rolland-Desbuquois type|Ddrd|dyssegmental dysplasia Rolland-Desbuquois type|dyssegmental dwarfism Rolland-Desbuquois type|Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type|Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type|dyssegmental dysplasia, Rolland-Desbuquois type Orphanet:156731|SCTID:95243004|OMIM:224400|UMLS:C0432209|ICD9:756.59|GARD:0009810|ICD10:Q77.7|MESH:C537999 https://rarediseases.info.nih.gov/diseases/9810/dyssegmental-dysplasia-rolland-desbuquois-type owl:Class MONDO:0011995 biolink:NamedThing cataract - congenital heart disease - neural tube defect syndrome Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported. tmpaxzxjjyw_mondo_relaxed.owl craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation|craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developintellectual disability MESH:C564271|Orphanet:314993|OMIM:608227|UMLS:C1842363 owl:Class MONDO:0004617 biolink:NamedThing recurrent hypersomnia Disorders characterized by hypersomnolence during normal waking hours that may impair cognitive functioning. Subtypes include primary hypersomnia disorders (e.g., idiopathic hypersomnolence; narcolepsy; and kleine-levin syndrome) and secondary hypersomnia disorders where excessive somnolence can be attributed to a known cause (e.g., drug affect, mental disorders, and sleep apnea syndrome). (From J Neurol Sci 1998 Jan 8;153(2):192-202; Thorpy, Principles and Practice of Sleep Medicine, 2nd ed, p320) tmpaxzxjjyw_mondo_relaxed.owl primary recurrent hypersomnia DOID:8619|ICD10:G47.13|ICD9:327.13|SCTID:426451004|UMLS:C0751226 owl:Class MONDO:0008502 biolink:NamedThing sulfhemoglobinemia, congenital tmpaxzxjjyw_mondo_relaxed.owl sulfhemoglobinemia, congenital OMIM:185460|UMLS:C1861437|MESH:C566102 owl:Class MONDO:0013077 biolink:NamedThing Santos syndrome tmpaxzxjjyw_mondo_relaxed.owl Santos syndrome|fibular agenesis/hypoplasia, oligodactylous clubfeet, and anonychia/nail hypoplasia syndrome MESH:C567819|UMLS:C2751698|OMIM:613005 owl:Class MONDO:0032600 biolink:NamedThing Snijders Blok-Campeau syndrome tmpaxzxjjyw_mondo_relaxed.owl SNIJDERS BLOK-CAMPEAU SYNDROME|intellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies|SNIBCPS OMIM:618205 owl:Class MONDO:0010737 biolink:NamedThing spondyloepiphyseal dysplasia tarda, X-linked X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern. tmpaxzxjjyw_mondo_relaxed.owl X-linked spondyloepiphyseal dysplasia|SED|SEDT|spondyloepiphyseal dysplasia tarda, X-linked|Sed tarda, X-linked|X linked spondyloepiphyseal dysplasia tarda|spondyloepiphyseal dysplasia tarda X-linked|spondyloepiphyseal dysplasia, late GARD:0004985|OMIM:313400|Orphanet:93284 https://rarediseases.info.nih.gov/diseases/4985/spondyloepiphyseal-dysplasia-tarda-x-linked owl:Class HP:0000098 biolink:NamedThing Tall stature A height above that which is expected according to age and gender norms. tmpaxzxjjyw_mondo_relaxed.owl Increased body height|Increased linear growth|Accelerated linear growth|Tall stature SNOMEDCT_US:248328003|UMLS:C0241240 peter 2008-02-27T02:21:00Z HP:0001527|HP:0003516|HP:0003515 human_phenotype owl:Class MONDO:0014174 biolink:NamedThing renal-hepatic-pancreatic dysplasia 2 Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene. tmpaxzxjjyw_mondo_relaxed.owl renal-hepatic-pancreatic dysplasia 2|RHPD2|renal-hepatic-pancreatic dysplasia caused by mutation in NEK8|NEK8 renal-hepatic-pancreatic dysplasia|renal-hepatic-pancreatic dysplasia type 2 OMIM:615415|Orphanet:294415|UMLS:C3809434 owl:Class MONDO:0017417 biolink:NamedThing renal-hepatic-pancreatic dysplasia Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendancy to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependant diabetes. tmpaxzxjjyw_mondo_relaxed.owl Ivemark II syndrome|Ivemark's syndrome|Renohepaticopancreatic dysplasia OMIM:208540|OMIM:615415|OMIMPS:208540|UMLS:C2673883|Orphanet:294415|DOID:0060259|SCTID:763891005 owl:Class CL:0000079 biolink:NamedThing stratified epithelial cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0022611 biolink:NamedThing Brunoni syndrome tmpaxzxjjyw_mondo_relaxed.owl mesomelia, radial hypoplasia bifid thumb unusual facies|mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia UMLS:C2931486|MESH:C537408 owl:Class MONDO:0018006 biolink:NamedThing adult-onset distal myopathy due to VCP mutation Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G71.0|UMLS:CN204218|Orphanet:329478 owl:Class MONDO:0010592 biolink:NamedThing focal dermal hypoplasia Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems. tmpaxzxjjyw_mondo_relaxed.owl Goltz Gorlin syndrome|Goltz syndrome|focal dermal hypoplasia|DHOF|FDH|Goltz-Gorlin syndrome|Fodh NCIT:C84715|ICD10:Q82.8|UMLS:C0016395|GARD:0006457|DOID:2120|MESH:D005489|OMIM:305600|Orphanet:2092|ICD9:757.39|SCTID:205573006 owl:Class UBERON:0004902 biolink:NamedThing urogenital sinus epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009846 biolink:NamedThing embryonic cloacal epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022509 biolink:NamedThing asternia Asternia, also known as a complete congenital sternal cleft, is a condition in which a bone called thesternum does not form properly.The sternumusuallyconnects to the ribs to form the ribcage. Individuals with asternia are missing this bone and may appear to have a rut or trench under the skin in the middle of the chest. Most individuals with asternia have no symptoms, though some may have difficulty breathing. Asternia is sometimes associated with other conditions, such as heart problems. The cause of asternia is currently unknown. Treatment consists of surgery to close the gap between the ribs. tmpaxzxjjyw_mondo_relaxed.owl absent sternum GARD:0009221 https://rarediseases.info.nih.gov/diseases/9221/asternia owl:Class MONDO:0003331 biolink:NamedThing ovarian monodermal teratoma A teratoma that arises from the ovary and is characterized by the presence of tissues derived exclusively from one embryonic germ cell layer. tmpaxzxjjyw_mondo_relaxed.owl ovarian monodermal teratoma|monodermal teratoma (morphologic abnormality)|monodermal teratoma DOID:5207|NCIT:C7286|UMLS:C1302569 owl:Class GO:2000382 biolink:NamedThing positive regulation of mesoderm development Any process that activates or increases the frequency, rate or extent of mesoderm development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011751 biolink:NamedThing COPD, severe early onset tmpaxzxjjyw_mondo_relaxed.owl pulmonary disease, chronic obstructive, Severe early-onset|pulmonary disease, chronic obstructive|pulmonary disease, chronic obstructive, rate of decline of lung function 1N|Copd, Severe early-onset|COPD OMIM:606963 Editor note: consider merging to parent owl:Class MONDO:0005002 biolink:NamedThing chronic obstructive pulmonary disease A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. tmpaxzxjjyw_mondo_relaxed.owl chronic obstructive pulmonary disease (COPD)|chronic obstructive airways disease|chronic obstructive lung disease|chronic obstructive pulmonary disease, (COPD)|obstructive pulmonary disease (COPD), chronic|cold (chronic obstructive lung disease)|obstructive lung disease, chronic|chronic obstructive airway disease|pulmonary disease (COPD), chronic obstructive|COPD|cold|COPD, chronic obstructive pulmonary disease|disease (COPD), chronic obstructive EFO:0000341|ICD10:J44.9|OMIM:606963|MESH:D029424|DOID:3083|ICD9:496|ICD9:490-496.99|SCTID:13645005|NCIT:C3199 owl:Class NCBITaxon:78536 biolink:NamedThing Euphyllophyta tmpaxzxjjyw_mondo_relaxed.owl euphyllophytes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:58023 biolink:NamedThing Tracheophyta tmpaxzxjjyw_mondo_relaxed.owl vascular plants GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019859 biolink:NamedThing congenital thyroid malformation without hypothyroidism tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 ICD10:Q89.2|Orphanet:95718 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: thyroid gland disease' MONDO_0003240 owl:Class FOODON:03420113 biolink:NamedThing mammalian milk or milk component A broad term that includes milk and its components, cream, curd and whey; use the appropriate specific term when milk or a milk product is the principal ingredient. Use the appropriate term under *MEAT ANIMAL* to index the source of the milk (note: 21 CFR 131.110 defines milk as cow's milk). tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001257 biolink:NamedThing milk or milk based food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0090139 biolink:NamedThing mitochondrial DNA packaging Any process in which mitochondrial DNA and associated proteins are formed into a compact, orderly structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002319 biolink:NamedThing phosphorus metabolism disease A metabolic disorder that affects the phosphate homeostasis. tmpaxzxjjyw_mondo_relaxed.owl phosphorus metabolic disorder|phosphorus disorder|disorder of phosphorus metabolism|phosphorus metabolism disorder MESH:D010760|SCTID:87049008|ICD10:E83.3|ICD9:275.3|UMLS:C0031707|NCIT:C97095|DOID:2485 owl:Class UBERON:0003442 biolink:NamedThing hindlimb nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044970 biolink:NamedThing mitochondrial disease tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010977 biolink:NamedThing Brody myopathy Brody myopathy is a hereditary condition that affects the skeletal muscles (muscles used for movement). Symptoms typically begin in childhood and are characterized by muscle cramping and stiffening (myopathy) after exercise or other strenuous activity. These symptoms can worsen in cold temperatures and are usually painless, however, some individuals may have mild discomfort. Some cases of Brody myopathy are caused by mutations in the ATP2A1 gene. The cause of Brody myopathy for individuals not found to have an ATP2A1 gene mutation remains unknown. Brody myopathy is usually inherited in an autosomal recessive manner with a few reported cases of autosomal dominant inheritance. While there is no one treatment for Brody myopathy, certain muscle relaxants, such as dantrolene and blood pressure medications called calcium channel blockers, such as verapamil may be useful. Some researchers suggest that individuals found to have an ATP2A1 gene mutation have a slightly different disorder in which symptoms appear at an earlier age. They use the disease term 'Brody disease' for individuals with an identifiedmutation versus 'Brody syndrome' for those that do not. More research may help clarify whether these are two different disorders or a variation of the same disorder. tmpaxzxjjyw_mondo_relaxed.owl Brody disease|Brody myopathy|sarcoplasmic reticulum -Ca2+ATPase deficiency ICD9:359.89|OMIM:601003|MESH:C536607|ICD10:G71.8|DOID:0050692|SCTID:703530005|UMLS:C1832918|Orphanet:53347|GARD:0009158 https://rarediseases.info.nih.gov/diseases/9158/brody-myopathy owl:Class CHEBI:29057 biolink:NamedThing keratan tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:18085 biolink:NamedThing glycosaminoglycan Any polysaccharide containing a substantial proportion of aminomonosaccharide residues. tmpaxzxjjyw_mondo_relaxed.owl glycosaminoglycan|Glykosaminoglykan|glycosaminoglycans|Glycosaminoglycan|glicosaminoglicano|glycosaminoglycane owl:Class MONDO:0013634 biolink:NamedThing neuropathy, hereditary sensory, type 2C Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene. tmpaxzxjjyw_mondo_relaxed.owl HSN2C|neuropathy, hereditary sensory, type IIC|KIF1A hereditary sensory and autonomic neuropathy type 2|hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A|hereditary sensory neuropathy type IIC|hereditary sensory neuropathy type 2C Orphanet:970|DOID:0070147|UMLS:C3280168|OMIM:614213 owl:Class MONDO:0007276 biolink:NamedThing cat-eye syndrome Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal. tmpaxzxjjyw_mondo_relaxed.owl chromosome 22 partial tetrasomy|Schmid-Fraccaro syndrome|Inv dup(22)(q11)|CES|CAT eye syndrome UMLS:C0265493|ICD10:Q92.8|NCIT:C75477|SCTID:26445008|GARD:0000026|OMIM:115470|Orphanet:195|MESH:C535918 https://rarediseases.info.nih.gov/diseases/26/cat-eye-syndrome owl:Class HGNC:3133 biolink:NamedThing EBP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010607 biolink:NamedThing heterotaxy, visceral, 1, X-linked X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis ; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia).Affected individualscan also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly, myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia. tmpaxzxjjyw_mondo_relaxed.owl dextrocardia with Other Cardiac malformations|heterotaxy, visceral, 1, X-linked|heterotaxy, visceral, X-linked|ZIC3 visceral heterotaxy|situs inversus, Complex Cardiac defects, and splenic defects, X-linked|HTX1|laterality, X-linked|congenital heart defects, multiple types, 1, X-linked|X-linked visceral heterotaxy 1|visceral heterotaxy caused by mutation in ZIC3 EFO:0009136|Orphanet:450|GARD:0008591|OMIM:306955|UMLS:C1844020|MESH:C538116 https://rarediseases.info.nih.gov/diseases/8591/x-linked-visceral-heterotaxy-1 owl:Class MONDO:0002355 biolink:NamedThing glottis carcinoma A carcinoma that arises from epithelial cells of the glottis. tmpaxzxjjyw_mondo_relaxed.owl glottic throat cancer|glottic carcinoma|glottis cancer|cancer of glottis|cancer of the glottis|carcinoma of glottis|carcinoma of the glottis|glottis carcinoma SCTID:372103002|NCIT:C4923|UMLS:C0740083|DOID:2599 owl:Class GO:1902107 biolink:NamedThing positive regulation of leukocyte differentiation Any process that activates or increases the frequency, rate or extent of leukocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl up regulation of leucocyte differentiation|up-regulation of leukocyte differentiation|upregulation of leucocyte differentiation|positive regulation of leucocyte differentiation|up-regulation of immune cell differentiation|activation of immune cell differentiation|up-regulation of leucocyte differentiation|upregulation of immune cell differentiation|up regulation of immune cell differentiation|activation of leucocyte differentiation|positive regulation of immune cell differentiation|up regulation of leukocyte differentiation|upregulation of leukocyte differentiation|activation of leukocyte differentiation owl:Class MONDO:0013505 biolink:NamedThing spermatogenic failure 9 Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene. tmpaxzxjjyw_mondo_relaxed.owl globozoospermia, complete|SPGF9|spermatogenic failure 9|DPY19L2 azoospermia|spermatogenic failure type 9|globozoospermia, total|azoospermia caused by mutation in DPY19L2 Orphanet:399808|OMIM:613958|DOID:0070175|UMLS:C3151407|Orphanet:171709 owl:Class UBERON:0011134 biolink:NamedThing nonsynovial joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003300 biolink:NamedThing roof plate of telencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004715 biolink:NamedThing liver carcinoma in situ A carcinoma in situ involving a liver. tmpaxzxjjyw_mondo_relaxed.owl carcinoma in situ of liver|carcinoma in situ of liver, gallbladder and bile ducts|liver in situ carcinoma|carcinoma in situ of liver and biliary system|stage 0 liver carcinoma ICD9:230.8|UMLS:C0345908|SCTID:92644006|DOID:9132|ICD10:D01.5 owl:Class GO:2000064 biolink:NamedThing regulation of cortisol biosynthetic process Any process that modulates the frequency, rate or extent of cortisol biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of cortisol anabolism|regulation of cortisol synthesis|regulation of cortisol formation|regulation of cortisol biosynthesis owl:Class HGNC:15999 biolink:NamedThing SELENON tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4612 biolink:NamedThing GSC tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr5p biolink:NamedThing 5p (Human) tmpaxzxjjyw_mondo_relaxed.owl 48800000 0 hg38 owl:Class MONDO:0021078 biolink:NamedThing glandular papilloma tmpaxzxjjyw_mondo_relaxed.owl glandular papilloma UMLS:C0205650|NCIT:C6880 owl:Class CHEBI:79314 biolink:NamedThing flame retardant Any compound that is added to manufactured materials to inhibit, suppress, or delay the production of flames and so prevent the spread of fire. tmpaxzxjjyw_mondo_relaxed.owl flame retardants owl:Class MONDO:0003722 biolink:NamedThing internal auditory canal meningioma A meningioma that affects the internal auditory canal. tmpaxzxjjyw_mondo_relaxed.owl meningioma (disease) of internal acoustic meatus|internal acoustic meatus meningioma (disease)|meningioma of the internal auditory canal|meningioma of internal auditory canal NCIT:C5307|DOID:5990|UMLS:C1334227 owl:Class MONDO:0010318 biolink:NamedThing FG syndrome 4 Any FG syndrome in which the cause of the disease is a mutation in the CASK gene. tmpaxzxjjyw_mondo_relaxed.owl FG syndrome 4|intellectual disability, X-linked, with or without Nystagmus|X-linked intellectual disability with or without nystagmus|cask FG syndrome|FGS4|FG syndrome caused by mutation in CASK|FG syndrome type 4|CASK FG syndrome|FG syndrome caused by mutation in cask|mental retardation, X-linked, with or without Nystagmus GARD:0009925|UMLS:CN033933|OMIM:300422|Orphanet:323 https://rarediseases.info.nih.gov/diseases/9925/x-linked-intellectual-disability-with-or-without-nystagmus owl:Class MONDO:0005812 biolink:NamedThing influenza An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system. tmpaxzxjjyw_mondo_relaxed.owl flu|influenza infection|orthomyxoviridae caused disease or disorder|Influenza with other manifestations|orthomyxoviridae disease or disorder|influenza with non-respiratory manifestation|orthomyxoviridae infectious disease MESH:D009976|EFO:0007328|ICD10:J11.1|NCIT:C53482|MESH:D007251|EFO:0007411|ICD9:487|DOID:8469|SCTID:61700007|ICD9:487.8 owl:Class ECTO:4000002 biolink:NamedThing exposure to increased salt A exposure event involving the interaction of an exposure receptor to increased amount of salt. tmpaxzxjjyw_mondo_relaxed.owl exposure to increased amount in salt owl:Class CHEBI:15966 biolink:NamedThing D-glutamic acid An optically active form of glutamic acid having D-configuration. tmpaxzxjjyw_mondo_relaxed.owl (2R)-2-aminopentanedioic acid|DGL|(R)-2-aminopentanedioic acid|D-glutamic acid|glutamic acid D-form|D-2-Aminoglutaric acid|D-Glutamic acid|D-Glutaminsaeure|D-Glutaminic acid owl:Class OBO:CHR_9606-chr1p3 biolink:NamedThing 1p3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 84400000 0 hg38 owl:Class MONDO:0001684 biolink:NamedThing exocrine pancreatic insufficiency Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders. tmpaxzxjjyw_mondo_relaxed.owl exocrine pancreas insufficiency|pancreatic insufficiency|exocrine pancreatic insufficiency SCTID:47367009|UMLS:C0267963|ICD9:577.8|ICD10:K86.81|NCIT:C84316|DOID:13316|MESH:D010188 owl:Class ECTO:8000000 biolink:NamedThing exposure to environmental process A exposure event involving the interaction of an exposure receptor to environmental system process. tmpaxzxjjyw_mondo_relaxed.owl environmental system process exposure owl:Class MONDO:0014896 biolink:NamedThing congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome tmpaxzxjjyw_mondo_relaxed.owl congenital muscular dystrophy, Davignon-Chauveau type|muscular dystrophy, congenital, Davignon-Chauveau type|MDCDC UMLS:C4310736|Orphanet:486815|OMIM:617066 owl:Class GO:2001214 biolink:NamedThing positive regulation of vasculogenesis Any process that activates or increases the frequency, rate or extent of vasculogenesis. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of vascular morphogenesis owl:Class MONDO:0005957 biolink:NamedThing setariasis Infection with nematodes of the genus Setaria. This condition is usually seen in cattle and equines and is of little pathogenic significance, although migration of the worm to the eye may lead to blindness. tmpaxzxjjyw_mondo_relaxed.owl Setaria infectious disease|infectious disease by Setaria|Setaria caused disease or disorder|Setaria disease or disorder EFO:0007482|UMLS:C0036850|DOID:1079|SCTID:4414005|MESH:D012719 owl:Class MONDO:0007833 biolink:NamedThing iris pigment layer, cleavage of tmpaxzxjjyw_mondo_relaxed.owl iris pigment layer, cleavage of OMIM:147610 owl:Class MONDO:0000492 biolink:NamedThing chronic venous insufficiency Chronic form of venous insufficiency (disease). tmpaxzxjjyw_mondo_relaxed.owl venous insufficiency (disease), chronic|chronic venous insufficiency (disease) DOID:0050853|EFO:0007940|UMLS:C1306557 owl:Class NCBITaxon:197911 biolink:NamedThing Alphainfluenzavirus tmpaxzxjjyw_mondo_relaxed.owl Influenzavirus A GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016214 biolink:NamedThing pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia, also named Btrimorphic syndromeB (i.e. three (inherited) morbidities, pulmonary, hepatic and cytopenia), is a rare disease reported in 4 cases to date, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:210136|UMLS:CN200975 owl:Class MONDO:0006361 biolink:NamedThing penile fibromatosis Fibromatosis arising from the soft tissues of the penis. It is characterized by the presence of spindle-shaped fibroblasts, and an infiltrative growth pattern. It causes the penis to bend when it becomes erect. tmpaxzxjjyw_mondo_relaxed.owl Peyronie's fibromatosis|penis fibromatosis|penile induration|penile fibromatosis|Peyronie's disease NCIT:C3316|EFO:1000466 owl:Class OBO:CHR_9606-chr5q1 biolink:NamedThing 5q1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 98900000 48800000 hg38 owl:Class UBERON:0004469 biolink:NamedThing musculature of back tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:24873 biolink:NamedThing iron molecular entity tmpaxzxjjyw_mondo_relaxed.owl iron compounds|iron molecular entities|iron molecular entity owl:Class CHEBI:33744 biolink:NamedThing iron group molecular entity tmpaxzxjjyw_mondo_relaxed.owl iron group molecular entities|iron group molecular entity owl:Class GO:1905332 biolink:NamedThing positive regulation of morphogenesis of an epithelium Any process that activates or increases the frequency, rate or extent of morphogenesis of an epithelium. tmpaxzxjjyw_mondo_relaxed.owl activation of epithelium morphogenesis|positive regulation of epithelium morphogenesis|upregulation of epithelium morphogenesis|activation of morphogenesis of an epithelium|up regulation of epithelium morphogenesis|up-regulation of epithelium morphogenesis|up-regulation of morphogenesis of an epithelium|upregulation of morphogenesis of an epithelium|up regulation of morphogenesis of an epithelium owl:Class MONDO:0013516 biolink:NamedThing retinitis pigmentosa 60 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene. tmpaxzxjjyw_mondo_relaxed.owl RP60|PRPF6 retinitis pigmentosa|retinitis pigmentosa 60|retinitis pigmentosa caused by mutation in PRPF6|retinitis pigmentosa type 60 UMLS:C3151434|DOID:0110411|OMIM:613983|ICD10:H35.5 owl:Class GO:0007423 biolink:NamedThing sensory organ development The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. tmpaxzxjjyw_mondo_relaxed.owl sense organ development owl:Class GO:0006952 biolink:NamedThing defense response Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. tmpaxzxjjyw_mondo_relaxed.owl defense/immunity protein activity|antimicrobial peptide activity|physiological defense response|defence response owl:Class MONDO:0012079 biolink:NamedThing asperger syndrome, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl ASPG2|ASPERGER syndrome, susceptibility to, 2 UMLS:C1837697|OMIM:608631 owl:Class UBERON:0004108 biolink:NamedThing clivus of occipital bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009233 biolink:NamedThing Fibulo-ulnar hypoplasia-renal anomalies syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl Saito-Kuba-Tsuruta syndrome|Saito Kuba Tsuruta syndrome|Fibulo ulnar hypoplasia renal anomalies|FIBULOULNAR aplasia or hypoplasia with renal abnormalities GARD:0000320|ICD10:Q87.8|Orphanet:2256|MESH:C537226|UMLS:C1856727|SCTID:716094008|OMIM:228940 owl:Class MONDO:0010120 biolink:NamedThing thrombocytopenia 3 tmpaxzxjjyw_mondo_relaxed.owl thrombocytopenia 3|THC3|thrombocytopenia, autosomal recessive, 3 MESH:C567487|Orphanet:168629|Orphanet:268322|UMLS:C2678311|OMIM:273900 owl:Class MONDO:0018471 biolink:NamedThing generalized eruptive keratoacanthoma Generalized eruptive keratoacanthoma (GEKA) is rare variant of keratoacanthoma (KA) that affects the skin and mucous membranes and which is characterized by a sudden generalized eruption of severely pruritic, hundreds to thousands of small follicular papules, often with a central keratotic plug. tmpaxzxjjyw_mondo_relaxed.owl Grzybowski syndrome|generalized eruptive keratoacanthomas of Grzybowski|GEKA ICD10:L85.8|UMLS:C0345985|SCTID:254664008|UMLS:CN237455|Orphanet:411777 owl:Class MONDO:0007268 biolink:NamedThing hypertrophic cardiomyopathy 4 An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic cardiomyopathy type 4|cardiomyopathy, familial hypertrophic, 4, susceptibility to|cardiomyopathy, familial hypertrophic, type 4|familial hypertrophic cardiomyopathy type 4|cardiomyopathy, familial hypertrophic, 4|MYBPC3 hypertrophic cardiomyopathy|CMH4|hypertrophic cardiomyopathy 4|hypertrophic cardiomyopathy caused by mutation in MYBPC3 MESH:C566169|DOID:0110310|OMIM:115197|UMLS:C1861862|NCIT:C133725 owl:Class MONDO:0021107 biolink:NamedThing narcolepsy A sleep disorder characterized by a tendency for excessive sleepiness during the day which occurs even after adequate sleep in the nighttime. The persons who suffer from this condition experience fatigue and may fall asleep at inappropriate times during the day. tmpaxzxjjyw_mondo_relaxed.owl narcolepsy|paroxysmal sleep|narcolepsy, without cataplexy EFO:0000614|SCTID:60380001|OMIMPS:161400|UMLS:C0027404|DOID:8986|NCIT:C84489|MESH:D009290|ICD9:347.00 owl:Class MONDO:0008423 biolink:NamedThing sinus node disease and myopia tmpaxzxjjyw_mondo_relaxed.owl sinus node disease and myopia|sick sinus syndrome and myopia|Sss-myopia syndrome OMIM:182190|MESH:C566690|Orphanet:166282|GARD:0004880|UMLS:C1866960 https://rarediseases.info.nih.gov/diseases/4880/sinus-node-disease-and-myopia owl:Class MONDO:0003852 biolink:NamedThing ovarian solid teratoma A mature teratoma that arises from the ovary and presents as a large solid mass. It contains multiple cysts that vary in size. Small foci of hemorrhage are also present. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7285|UMLS:C1335181|DOID:6315 owl:Class MONDO:0003820 biolink:NamedThing mature ovarian teratoma An ovarian teratoma which may be cystic, composed entirely of well differentiated, adult-type tissues, without evidence of fetal-type tissues. tmpaxzxjjyw_mondo_relaxed.owl mature ovarian teratoma|mature teratoma of ovary|ovary mature teratoma|mature teratoma|mature teratoma of the ovary NCIT:C8112|DOID:6231|ONCOTREE:OMT|UMLS:C1334637 owl:Class MONDO:0008894 biolink:NamedThing cataract-hypertrichosis-intellectual disability syndrome Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born to consanguineous parents. It is transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl cataract, hypertrichosis, mental retardation syndrome|cataract, hypertrichosis, intellectual disability syndrome|CAHMR syndrome Orphanet:1375|SCTID:722379001|OMIM:211770|UMLS:C0796282|ICD10:Q87.8|MESH:C537959 owl:Class MONDO:0002212 biolink:NamedThing pneumonic tularemia A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing. tmpaxzxjjyw_mondo_relaxed.owl pulmonary tularemia|bronchopneumonic tularemia|pneumonic tularaemia UMLS:C0339946|SCTID:45556008|ICD9:021.2|ICD10:A21.2|DOID:2122 owl:Class MONDO:0043537 biolink:NamedThing cluster headache syndrome A headache disorder that is characterized by periodic severe, unilateral orbital, supraorbital, and/or temporal pain, and is associated with ipsilateral cranial autonomic symptoms. tmpaxzxjjyw_mondo_relaxed.owl Cephalgias, histamine|erythroprosopalgia of bing|neuralgic migraines|episodic cluster headaches|headache, atypical cluster|headache syndromes, cluster|Horton's neuralgia|cluster headaches, chronic|red migraine|headache, episodic cluster|syndrome, cluster headache|migraine, neuralgic|episodic cluster headache|ciliary neuralgia|cluster migraine|atypical cluster headaches|Hortons syndrome|chronic cluster headaches|cluster headache syndromes|cluster headache, atypical|histamine headache|syndromes, cluster headache|migraines, neuralgic|headache, chronic cluster|headaches, cluster|neuralgia, ciliary|Horton headache|headaches, atypical cluster|cluster headache, chronic|atypical cluster headache|cluster headache, episodic|vasomotor headache|headaches, chronic cluster|beuralgias, ciliary|migrainous neuralgia|headaches, episodic cluster|cluster headache|histamine cephalgias|histamine cephalgia|cluster headaches|cluster headache syndrome|erythromelalgia of the head|syndrome, Horton|cluster headaches, episodic|chronic cluster headache|Cephalgia, histamine|headache syndrome, cluster|headache, cluster|neuralgic migraine|Horton's syndrome|Horton's headache|syndrome, Horton's|ciliary neuralgias|cluster headaches, atypical|Horton syndrome Orphanet:1002|EFO:0008571|SCTID:193031009|NCIT:C117077|MESH:D003027 owl:Class MONDO:0003127 biolink:NamedThing embryoma tmpaxzxjjyw_mondo_relaxed.owl blastoma 2022-03-01 UMLS:C0936282|DOID:4766 Reason: duplicate. This will be merged with MONDO:0005565 owl:Class MONDO:0005564 biolink:NamedThing embryonal neoplasm A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003 tmpaxzxjjyw_mondo_relaxed.owl embryonal cancer|EMBT|embryo neoplasm|embryonal tumor|embryonal neoplasm DOID:688|ONCOTREE:EMBT|EFO:0005784|UMLS:C0027654|NCIT:C3264 owl:Class MONDO:0017988 biolink:NamedThing multifocal atrial tachycardia Multifocal atrial tachycardia is a rare supraventricular arrhythmia in neonates and young infants that is characterized by multiple P waves with varying P wave morphology and is usually asymptomatic. tmpaxzxjjyw_mondo_relaxed.owl multifocal atrial tachycardia (disease)|MAT|chaotic atrial tachycardia|multifocal atrial tachycardia multifocal atrial tachycardia (disease) Orphanet:3282|HP:0011701|ICD9:427.89|GARD:0001235|SCTID:49982000|ICD10:I47.1|UMLS:C0221158 owl:Class ENVO:09200004 biolink:NamedThing porosity of soil The porosity of some soil. tmpaxzxjjyw_mondo_relaxed.owl soil porosity owl:Class GO:0009309 biolink:NamedThing amine biosynthetic process The chemical reactions and pathways resulting in the formation of any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. tmpaxzxjjyw_mondo_relaxed.owl amine anabolism|amine biosynthesis|amine formation|amine synthesis owl:Class GO:0009308 biolink:NamedThing amine metabolic process The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. tmpaxzxjjyw_mondo_relaxed.owl amine metabolism owl:Class GO:0014059 biolink:NamedThing regulation of dopamine secretion Any process that modulates the frequency, rate or extent of the regulated release of dopamine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016755 biolink:NamedThing aminoacyltransferase activity Catalysis of the transfer of an amino-acyl group from one compound (donor) to another (acceptor). tmpaxzxjjyw_mondo_relaxed.owl transferase activity, transferring amino-acyl groups|aminoacyltransferase activity owl:Class MONDO:0008302 biolink:NamedThing centra precocious puberty 1 Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene. tmpaxzxjjyw_mondo_relaxed.owl precocious puberty, central, 1|KISS1R central precocious puberty|central precocious puberty caused by mutation in KISS1R|CPPB1|precocious puberty, central, type 1 OMIM:176400|UMLS:C0342543|Orphanet:759|UMLS:C3805879 owl:Class MONDO:0019165 biolink:NamedThing central precocious puberty Central precocious puberty (CPP), also referred to as gonadotropin dependent precocious puberty, is an endocrine-related developmental disease characterized by the onset of pubertal changes, with development of secondary sexual characteristics and accelerated growth and bone maturation, before the normal age of puberty (8 years in girls and 9 years in boys). tmpaxzxjjyw_mondo_relaxed.owl CPP|gonadotropin-dependant precocious puberty|gonadotropin-dependent precocious puberty|precocious puberty, central ICD9:259.1|Orphanet:759|SCTID:237816004|MESH:C562787|OMIMPS:176400|OMIM:615346|OMIM:176400|UMLS:C0342543|ICD10:E22.8 owl:Class MONDO:0009962 biolink:NamedThing Senior-Loken syndrome 1 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene. tmpaxzxjjyw_mondo_relaxed.owl Senior-Loken syndrome|SENIOR-Loken syndrome 1|juvenile nephronophthisis with Leber amaurosis|Senior-Loken syndrome 1|Senior-Loken syndrome caused by mutation in NPHP1|renal-retinal syndrome|NPHP1 Senior-Loken syndrome|renal dysplasia and retinal aplasia|Loken-Senior syndrome|Senior-Loken syndrome type 1|SLSN1 SCTID:236531005|Orphanet:3156|ICD9:759.89|OMIM:266900 owl:Class UBERON:0010146 biolink:NamedThing paraurethral duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001269 biolink:NamedThing scleral disorder A disorder affecting the sclera. Examples include inflammatory processes (e.g., scleritis and episcleritis), and degenerative processes. Primary tumors of the sclera are extremely rare. tmpaxzxjjyw_mondo_relaxed.owl sclera disease or disorder|sclera disorder|disorder of sclera|scleral disorder|disease or disorder of sclera|disease of sclera|sclera disease ICD9:379.19|ICD10:H15|MESH:D015422|ICD10:H15.9|SCTID:33064008|UMLS:C0036412|DOID:11343|NCIT:C79717 owl:Class MONDO:0044626 biolink:NamedThing female infertility due to oocyte meiotic arrest tmpaxzxjjyw_mondo_relaxed.owl Orphanet:488191 owl:Class UBERON:0002036 biolink:NamedThing striated muscle tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007529 biolink:NamedThing elastosis perforans serpiginosa tmpaxzxjjyw_mondo_relaxed.owl elastosis perforans serpiginosa|eps|Miescher elastoma|elastoma Intrapapillare perforans verruciformis GARD:0010103|MedDRA:10014338|MESH:C536202|SCTID:49428008|OMIM:130100|ICD10:L87.2|UMLS:C0221271|Orphanet:79148 Editor note: currently treat this as genetic, see https://github.com/Orphanet/ORDO/issues/3. Consider adding AD https://rarediseases.info.nih.gov/diseases/10103/elastosis-perforans-serpiginosa owl:Class MONDO:0011280 biolink:NamedThing schizophrenia 6 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21. tmpaxzxjjyw_mondo_relaxed.owl SCZD6|schizophrenia 6|schizophrenia susceptibility locus, chromosome 8P-related UMLS:C1864275|OMIM:603013|DOID:0070082 owl:Class UBERON:0009201 biolink:NamedThing nephric duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005762 biolink:NamedThing Filoviridae infectious disease Infections with viruses of the family filoviridae. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown. tmpaxzxjjyw_mondo_relaxed.owl Filoviridae disease or disorder|Filoviridae caused disease or disorder EFO:0007273|UMLS:C0242917|MESH:D018702 owl:Class MONDO:0010134 biolink:NamedThing Pendred syndrome Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. tmpaxzxjjyw_mondo_relaxed.owl goiter-deafness syndrome|autosomal recessive sensorineural hearing impairment and goiter|deafness with goiter|thyroid hormonogenesis, genetic defect in, 2B|Pendred syndrome|PDS|hypothyroidism, congenital, due to dyshormonogenesis, 2B|thyroid dyshormonogenesis 2B|congenital hypothyroidism due to dyshormonogenesis 2B|TDH2B|genetic defect in thyroid hormonogenesis 2B MESH:C536648|GARD:0004271|UMLS:C0271829|OMIM:274600|SCTID:70348004|DOID:0060744|Orphanet:705|ICD10:E07.1|NCIT:C121745 owl:Class MONDO:0015354 biolink:NamedThing hereditary sensory and autonomic neuropathy with deafness and global delay This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. tmpaxzxjjyw_mondo_relaxed.owl HSAN with deafness and global delay ICD10:G60.8|SCTID:717826009|UMLS:CN226662|Orphanet:139573|UMLS:C4303566 owl:Class MONDO:0018110 biolink:NamedThing lethal idiopathic viral infection tmpaxzxjjyw_mondo_relaxed.owl Orphanet:35064|UMLS:CN776879 owl:Class CL:0000766 biolink:NamedThing myeloid leukocyte A cell of the monocyte, granulocyte, or mast cell lineage. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0010236 biolink:NamedThing intellectual disability, X-linked 14 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked 14|mental retardation, X-linked 14|mental retardation, X-linked nonspecific, type 14|intellectual disability, X-linked nonspecific, type 14|MRX14 MESH:C537454|Orphanet:777|OMIM:300062|GARD:0008557 owl:Class MONDO:0007131 biolink:NamedThing anonychia with flexural pigmentation Anonychia with flexural pigmentation is characterised by anonychia and skin abnormalities (hyper- and hypopigmentation in axillae and groins, dry palmar and plantar skin leading to sore and cracked soles). It has been described in a mother and her two children. The mode of transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl anonychia with flexural pigmentation MESH:C566278|UMLS:C1862844|Orphanet:69125|OMIM:106750 owl:Class SO:0000401 biolink:NamedThing gene_attribute An attribute describing a gene. tmpaxzxjjyw_mondo_relaxed.owl gene attribute owl:Class MONDO:0006903 biolink:NamedThing peroneal nerve paralysis Paralysis of the nerves located in the legs. tmpaxzxjjyw_mondo_relaxed.owl palsy, peroneal nerve|nerve palsy, peroneal|peroneal nerve palsy DOID:6925|EFO:1001102|NCIT:C27061|MedDRA:10033828|UMLS:C0270810|SCTID:399088004|ICD10:G57.3 owl:Class HGNC:11943 biolink:NamedThing TNNC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011040 biolink:NamedThing spinal dysplasia, Anhalt type tmpaxzxjjyw_mondo_relaxed.owl spinal dysplasia, Anhalt type MESH:C563348|UMLS:C1832464|OMIM:601344 owl:Class MONDO:0014238 biolink:NamedThing severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 39|intellectual disability, autosomal recessive 39|intellectual disability, autosomal recessive type 39|mental retardation, autosomal recessive type 39|MRT39 Orphanet:391307|ICD10:Q87.8|UMLS:C3809853|OMIM:615541 owl:Class HGNC:19102 biolink:NamedThing DDX58 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010514 biolink:NamedThing combined immunodeficiency due to moesin deficiency tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency type 50|immunodeficiency 50|IMD50|Cid due to Moesin deficiency|immunodeficiency 50, X-linked recessive|MSN-related combined immunodeficiency|X-linked Moesin-associated immunodeficiency UMLS:C4310812|Orphanet:504530|OMIM:300988 owl:Class MONDO:0016749 biolink:NamedThing tumor of cranial and spinal nerves tmpaxzxjjyw_mondo_relaxed.owl rare tumor of cranial and spinal nerves UMLS:CN201996|GARD:0012697|Orphanet:252057 https://rarediseases.info.nih.gov/diseases/12697/tumor-of-cranial-and-spinal-nerves owl:Class UBERON:0004118 biolink:NamedThing vasculature of iris tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100394 biolink:NamedThing acute myeloid leukemia, t(1;22) Any acute myeloid leukemia that has the chromosomal anomaly t(1;22). (A cytogenetic abnormality that involves a translocation between chromosomes 1 and 22.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(1;22) NCIT:C175584 owl:Class MONDO:0020481 biolink:NamedThing myotonia fluctuans Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion. tmpaxzxjjyw_mondo_relaxed.owl MF|exercise-induced delayed-onset myotonia|Fluctuating myotonia UMLS:C0752355|NCIT:C122789|OMIM:608390|Orphanet:99734|SCTID:715788001|ICD10:G71.1 owl:Class MONDO:0018959 biolink:NamedThing potassium-aggravated myotonia Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia. tmpaxzxjjyw_mondo_relaxed.owl Myotonia Congenita, Acetazolamide-Responsive|Laryngospasm, Severe Neonatal Episodic|Myotonia Permanens|Sodium Channel Muscle Disease|MYOTONIA, POTASSIUM-AGGRAVATED|Myotonia Congenita, Atypical|PAM|Potassium aggravated myotonia|K-aggravated myotonia|K+-aggravated myotonia|Myotonia Fluctuans UMLS:C2931826|NCIT:C122788|MESH:C538353|SCTID:702355008|Orphanet:612|ICD10:G71.1|GARD:0004459|OMIM:608390 owl:Class UBERON:0006213 biolink:NamedThing carpus cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020813 biolink:NamedThing benign testicular sertoli cell tumor A non-metastasizing sex cord-stromal tumor that arises from the testis. Morphologically, it is characterized by the presence of Sertoli cells forming tubules. Leydig cells are rare or absent. tmpaxzxjjyw_mondo_relaxed.owl benign testicular sertoli cell neoplasm|benign sertoli cell tumor of testis|benign sertoli cell tumor of the testis|benign sertoli cell neoplasm of testis|benign sertoli cell neoplasm of the testis|benign testicular sertoli cell tumor NCIT:C6522 owl:Class UBERON:0006930 biolink:NamedThing glandular cuboidal epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100265 biolink:NamedThing peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene. tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class CL:0000034 biolink:NamedThing stem cell A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-2086|FMA:63368 cell owl:Class MONDO:0015351 biolink:NamedThing neuropathy with hearing impairment This syndrome is characterized by the association of sensorineural hearing impairment and peripheral neuropathy. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:139512|ICD10:G60.8|SCTID:723497003|UMLS:CN199414 owl:Class UBERON:0006957 biolink:NamedThing submandibular gland primordium epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020520 biolink:NamedThing adult pulmonary Langerhans cell histiocytosis Adult pulmonary Langerhans Cell Histiocytosis (PLCH) is a rare histiocytic lung disease characterized by the accumulation of Langerhans and other inflammatory cells in the small airways, resulting in the formation of nodular inflammatory lesions. tmpaxzxjjyw_mondo_relaxed.owl pulmonary Langerhans cell histiocytosis|pulmonary eosinophilic granuloma|PLCH|pulmonary histiocytosis X ICD10:J84.82|Orphanet:99874|SCTID:328611000119105|UMLS:C3161104|ICD10:C96.5|UMLS:C1455705|NCIT:C142833 owl:Class MONDO:0013327 biolink:NamedThing primary hyperoxaluria type 3 Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis. tmpaxzxjjyw_mondo_relaxed.owl HOGA1 primary hyperoxaluria|hyperoxaluria, primary, type 3|primary hyperoxaluria type III|hyperoxaluria, primary, type III|HP3|PH III|primary hyperoxaluria caused by mutation in HOGA1 UMLS:C3150878|NCIT:C123214|DOID:0111672|Orphanet:416|OMIM:613616|Orphanet:93600|ICD10:E74.8|GARD:0010738|SCTID:734990008 https://rarediseases.info.nih.gov/diseases/10738/primary-hyperoxaluria-type-3 owl:Class MONDO:0002474 biolink:NamedThing primary hyperoxaluria A hereditary disorder characterized by excessive oxalate production, leading to hyperoxaluria. tmpaxzxjjyw_mondo_relaxed.owl hyperoxaluria, primary|primary hyperoxaluria OMIM:259900|SCTID:17901006|ICD10:E72.53|OMIMPS:259900|UMLS:C0020501|DOID:2977|MedDRA:10020703|OMIM:260000|Orphanet:416|OMIM:613616|ICD10:E74.8|NCIT:C123158|MESH:D006960|ICD9:271.8 owl:Class MONDO:0015498 biolink:NamedThing oromandibular-limb anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156215|UMLS:CN199634 owl:Class MONDO:0002781 biolink:NamedThing glossopharyngeal nerve paralysis Paralysis of the glossopharyngeal nerve. tmpaxzxjjyw_mondo_relaxed.owl glossopharyngeal nerve cranial nerve palsy|cranial nerve palsy of glossopharyngeal nerve UMLS:C0919940|DOID:3816|NCIT:C27335 owl:Class HGNC:4312 biolink:NamedThing GCLM tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002327 biolink:NamedThing intracranial cavernous angioma A cavernous hemangioma arising from the brain and meninges. tmpaxzxjjyw_mondo_relaxed.owl intracranial cavernous hemangioma|intracranial cavernous angioma|intracranial cavernoma SCTID:445513004|DOID:2516|NCIT:C5432|UMLS:C1334237 owl:Class PATO:0001394 biolink:NamedThing diploid A ploidy quality inhering in a bearer by virtue of the bearer's having two copies (homologs) of each chromosome, usually one from the mother and one from the father. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0056819 biolink:NamedThing nasal cavity and paranasal sinus carcinoma A carcinoma arising from the nasal cavity or paranasal sinuses. tmpaxzxjjyw_mondo_relaxed.owl nasal cavity and paranasal sinus carcinoma|nasal cavity and paranasal sinus cancer|sinonasal carcinoma|paranasal sinus and nasal cavity cancer NCIT:C54293|GARD:0007650|UMLS:C1710095 Editor note: TODO add uberon term owl:Class MONDO:0006586 biolink:NamedThing neurotic excoriation A condition in which patients produce skin lesions through repetitive, compulsive excoriation of their skin. tmpaxzxjjyw_mondo_relaxed.owl dermatitis factitia|dermatitis artefacta|factitious skin disease|dermatitis factitia [artefacta]|dermatitis ficta EFO:1000741|Wikipedia:Neurotic_excoriations|UMLS:C1274184|ICD10:L98.1|SCTID:402736003|ICD9:698.4|ICD9:300.19|DOID:9165 owl:Class NCBITaxon:172148 biolink:NamedThing Alkhumra hemorrhagic fever virus tmpaxzxjjyw_mondo_relaxed.owl AHFV GC_ID:1 ncbi_taxonomy owl:Class HGNC:10671 biolink:NamedThing SDCCAG8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004431 biolink:NamedThing proximal epiphysis of fifth metatarsal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004399 biolink:NamedThing epiphysis of fifth metatarsal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007498 biolink:NamedThing ear exostoses tmpaxzxjjyw_mondo_relaxed.owl exostoses of external auditory canal|ear exostoses UMLS:C0155411|OMIM:128300 owl:Class MONDO:0008993 biolink:NamedThing cleft palate-stapes fixation-oligodontia syndrome Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971. tmpaxzxjjyw_mondo_relaxed.owl cleft palate stapes fixation oligodontia|cleft palate, deafness, and oligodontia UMLS:C1859081|MESH:C565844|ICD10:Q87.8|Orphanet:2010|GARD:0001393|OMIM:216300 https://rarediseases.info.nih.gov/diseases/1393/cleft-palate-stapes-fixation-oligodontia owl:Class MONDO:0006753 biolink:NamedThing Escherichia coli meningitis A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as opportunistic infections in association with immunologic deficiency syndromes. In premature neonates the clinical presentation may be limited to anorexia; vomiting; lethargy; or respiratory distress. Full-term infants may have as additional features fever; seizures; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400) tmpaxzxjjyw_mondo_relaxed.owl ICD9:320.82|UMLS:C0338395|SCTID:192655005|ICD9:320.7|MESH:D020814|EFO:1000929 owl:Class MONDO:0006670 biolink:NamedThing bacterial meningitis Inflammation of the membranes surrounding the brain and spinal cord due to a bacterial infection. tmpaxzxjjyw_mondo_relaxed.owl meningitis, bacterial|Bacteria caused infectious meningitis|Bacteria infectious meningitis DOID:9470|EFO:1000831|MedDRA:10004049|NCIT:C118297|GARD:0005881|ICD9:320.89|ICD9:320|MESH:D016920|SCTID:95883001|UMLS:C0085437|ICD10:G00.9|ICD10:G00|ICD9:320.7|ICD9:320.9 https://rarediseases.info.nih.gov/diseases/5881/bacterial-meningitis owl:Class MONDO:0033363 biolink:NamedThing developmental and epileptic encephalopathy, 54 tmpaxzxjjyw_mondo_relaxed.owl DEE54|EIEE54|epileptic encephalopathy, early infantile, 54 Orphanet:1934|OMIM:617391|UMLS:C4479319|DOID:0080418 owl:Class MONDO:0008443 biolink:NamedThing spastic paraplegia-precocious puberty syndrome Spastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia with precocious puberty|familial spastic paraplegia, mental retardation, and precocious puberty|familial spastic paraplegia, intellectual disability, and precocious puberty|precocious puberty with spastic paraplegia UMLS:C1866850|MESH:C536874|OMIM:182820|Orphanet:2826|GARD:0004918 owl:Class MONDO:0001104 biolink:NamedThing toxic diffuse goiter tmpaxzxjjyw_mondo_relaxed.owl DOID:10719|SCTID:267374005|ICD9:242.00 owl:Class MONDO:0001488 biolink:NamedThing anterior corneal pigmentation tmpaxzxjjyw_mondo_relaxed.owl anterior corneal pigmentations UMLS:C0155104|ICD9:371.11|SCTID:18377001|DOID:12307|ICD10:H18.01 owl:Class MONDO:0001308 biolink:NamedThing corneal deposit tmpaxzxjjyw_mondo_relaxed.owl deposits - cornea ICD9:371.10|DOID:11547|ICD10:H18.00|SCTID:74460005|ICD10:H18.0|UMLS:C0162281 Editor note: consider placing in HPO owl:Class HGNC:18622 biolink:NamedThing COG7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015394 biolink:NamedThing nasal encephalocele Nasal encephalocele is an extracranial herniation of intracranial contents (that maintain a connection to the subarachnoid space) into the fonticulus frontalis, presenting with nasal broadening and/or as a compressible, blue, pulsatile mass near the nasal bridge (that enlarges on crying or with jugular vein compression) or as an intranasal mass originating in the cribiform plate and that can cause nasal obstruction or respiratory distress. Hydrocephalus and increased intracranial pressure are also reported in some cases. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:141118|SCTID:65455002|ICD10:Q01.1 owl:Class MONDO:0016491 biolink:NamedThing hemoglobin E-beta-thalassemia syndrome Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia. tmpaxzxjjyw_mondo_relaxed.owl E-beta-thalassemia|HbE-beta-thalassemia syndrome UMLS:C0472777|ICD10:D58.2|Orphanet:231249 owl:Class MONDO:0017145 biolink:NamedThing beta-thalassemia and related diseases tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202571|ICD10:D56.1|Orphanet:275749 owl:Class MONDO:0013716 biolink:NamedThing aortic aneurysm, familial abdominal, 4 tmpaxzxjjyw_mondo_relaxed.owl AAA4|aortic aneurysm, familial abdominal, 4 UMLS:C3280597|OMIM:614375|Orphanet:86 owl:Class NCBITaxon:5478 biolink:NamedThing [Candida] glabrata tmpaxzxjjyw_mondo_relaxed.owl Cryptococcus glabratus|Torulopsis glabrata|Candida glabrata PMID:14654427|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:600669 biolink:NamedThing Nakaseomyces/Candida clade tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006641 biolink:NamedThing afferent loop syndrome A complication of gastrojejunostomy (billroth II procedure), a reconstructive gastroenterostomy. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to hernia, intussusception, kinking, volvulus, etc. It is characterized by pain and vomiting of bile-stained fluid. tmpaxzxjjyw_mondo_relaxed.owl ICD9:537.89|MESH:D000343|EFO:1000799|SCTID:20813000|UMLS:C0001727|MedDRA:10056245|DOID:8438 owl:Class MONDO:0004566 biolink:NamedThing postgastrectomy syndrome Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (dumping syndrome and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies. tmpaxzxjjyw_mondo_relaxed.owl postgastric surgery syndrome DOID:8439|ICD9:564.2|ICD10:K91.1|UMLS:C0032763|SCTID:80193009|MESH:D011178 owl:Class HGNC:3800 biolink:NamedThing FOXC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0098645 biolink:NamedThing collagen network A supramolecular complex that consists of collagen triple helices associated to form a network. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001447 biolink:NamedThing tarsal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11123 biolink:NamedThing SMS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004629 biolink:NamedThing subacute delirium tmpaxzxjjyw_mondo_relaxed.owl ICD9:293.1|SCTID:191507002|DOID:8645 owl:Class MONDO:0045057 biolink:NamedThing delirium A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2) tmpaxzxjjyw_mondo_relaxed.owl organic brain syndrome|OBS syndrome UMLS:C0011206|ICD9:293.0|MESH:D003693|SCTID:2776000|EFO:0009267 owl:Class GO:0006875 biolink:NamedThing cellular metal ion homeostasis Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. tmpaxzxjjyw_mondo_relaxed.owl cellular heavy metal ion homeostasis owl:Class MONDO:0008155 biolink:NamedThing osteomesopyknosis Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. tmpaxzxjjyw_mondo_relaxed.owl axial osteosclerosis|osteomesopyknosis UMLS:C0432264|ICD10:Q78.2|GARD:0000391|Orphanet:2777|OMIM:166450|MESH:C537792|SCTID:254125009 https://rarediseases.info.nih.gov/diseases/391/osteomesopyknosis owl:Class MONDO:0018835 biolink:NamedThing nodular regenerative hyperplasia of the liver Nodular regenerative hyperplasia of the liver is a rare parenchymatous liver disease characterized by diffuse benign transformation of the hepatic parenchyma into multiple small nodules (composed of regenerating hepatocytes) and that is usually asymptomatic but can lead to the development of non-cirrhotic portal hypertension and its complications, including esophageal variceal bleeding, hypersplenism and ascites. It is often associated with rheumatologic, autoimmune, hematologic, and myeloproliferative disorders as well as various immune deficiency states and exposure certain drugs and toxins. tmpaxzxjjyw_mondo_relaxed.owl non-cirrhotic nodular transformation|non-cirrhotic nodulation|nodular regenerative hyperplasia|non-cirrhotic portal hypertension|miliary hepatocellular adenomatosis ICD10:K76.8|SCTID:715140008|Orphanet:48372|ICD9:573.8|GARD:0010929|UMLS:CN205145 owl:Class HP:0100314 biolink:NamedThing Cerebral inclusion bodies Nuclear or cytoplasmic aggregates of stainable substances within cells of the brain. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4022149 Inclusion bodies are usually derived from proteins. doelkens 2010-08-10T03:31:18Z human_phenotype owl:Class MONDO:0007742 biolink:NamedThing 5-hydroxytryptamine oxygenase regulator tmpaxzxjjyw_mondo_relaxed.owl 5-hydroxytryptamine oxygenase regulator|HTOR|5-HYDROXYTRYPTAMINE oxygenase regulator OMIM:143460 owl:Class MONDO:0010976 biolink:NamedThing KRT14-related epidermolysis bullosa simplex KRT14-related epidermolysis bullosa simplex (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex EBS characterized by generalized or, less frequently, localized acral blistering. tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa simplex, autosomal recessive 1|EBSB1|KRT14-related autosomal recessive EBS|epidermolysis bullosa simplex, autosomal recessive type 1|EBS, autosomal recessive K14|EBS-AR KRT14|epidermolysis bullosa simplex, autosomal recessive K14|KRT14-related autosomal recessive epidermolysis bullosa simplex MESH:C563408|ICD10:Q81.0|Orphanet:89838|OMIM:601001 owl:Class CL:0002577 biolink:NamedThing placental epithelial cell An epithelial cell of the placenta. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-02T03:21:30Z cell owl:Class MONDO:0006211 biolink:NamedThing fibrous hamartoma of infancy A poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern. tmpaxzxjjyw_mondo_relaxed.owl fibrous hamartoma of infancy|fibrous hamartoma|infantile fibrous hamartoma NCIT:C3942|SCTID:56364004|EFO:1000257|UMLS:C0265979|ICD9:215.9 owl:Class MONDO:0024478 biolink:NamedThing mesenchymal hamartoma tmpaxzxjjyw_mondo_relaxed.owl mesenchymal hamartoma NCIT:C40427|UMLS:C0334090 owl:Class UBERON:0004238 biolink:NamedThing spleen smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019262 biolink:NamedThing juvenile neuronal ceroid lipofuscinosis A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities. tmpaxzxjjyw_mondo_relaxed.owl Spielmeyer-Vogt disease|juvenile NCL|JNCL|juvenile neuronal ceroid lipofuscinosis|batten disease DOID:0050756|OMIM:204200|OMIM:204500|Orphanet:79264|SCTID:61663001|OMIM:610127|ICD10:E75.4|OMIM:256730|OMIM:600143|OMIM:609055|MedDRA:10052073 Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs owl:Class GO:0070483 biolink:NamedThing detection of hypoxia The series of events in which a stimulus indicating lowered oxygen tension is received by a cell and converted into a molecular signal. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. tmpaxzxjjyw_mondo_relaxed.owl detection of reduced oxygen levels owl:Class GO:0001666 biolink:NamedThing response to hypoxia Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. tmpaxzxjjyw_mondo_relaxed.owl response to hypoxic stress|response to lowered oxygen tension|response to intermittent hypoxia|response to sustained hypoxia owl:Class MONDO:0006367 biolink:NamedThing pharyngeal adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the pharynx. tmpaxzxjjyw_mondo_relaxed.owl adenoid cystic carcinoma of the pharynx|adenoid cystic carcinoma of pharynx|pharyngeal adenoid cystic carcinoma|pharyngeal throat adenoid cystic cancer|pharynx adenoid cystic carcinoma UMLS:C1335399|NCIT:C5818|EFO:1000472 owl:Class CHEBI:37581 biolink:NamedThing gamma-lactone A lactone having a five-membered lactone ring. tmpaxzxjjyw_mondo_relaxed.owl 1,4-Lactone|a 1,4-lactone|gamma-lactona|gamma-lactones|gamma-Laktone|gamma-lactonas|butyrolactones|1,4-lactones owl:Class MONDO:0007571 biolink:NamedThing primary erythermalgia Primary erythermalgia is characterized by intermittent attacks of red, warm, painful burning extremities. It spontaneously arises during early childhood and adolescence in the absence of any detectable underlying disorder. tmpaxzxjjyw_mondo_relaxed.owl erythromelalgia, familial|primary erythromelalgia|neuropathy, small Fiber|Mitchell disease (formerly)|erythermalgia, primary|erythromelalgia, primary|PERYTHM Orphanet:306577|UMLS:C0014805|NCIT:C125383|Orphanet:90026|OMIM:133020|ICD10:I73.8|SCTID:709489006|GARD:0006377 Editor note: consider link to MONDO:0016028 owl:Class MONDO:0016028 biolink:NamedThing erythromelalgia A rare neurovascular peripheral pain disorder due to the intermittent blockage of the blood vessels, usually in the lower extremities or hands. This causes hyperemia and inflammation at the origin of burning pain and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder. Primary erythromelalgia is caused by gene mutations. Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, essential thrombocytemia, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders. tmpaxzxjjyw_mondo_relaxed.owl ICD10:I73.8|NCIT:C34593|Orphanet:1956|SCTID:37151006|MedDRA:10015284|DOID:9240|UMLS:C0014804|ICD10:I73.81|ICD9:443.82|MESH:D004916 owl:Class MONDO:0015077 biolink:NamedThing adrenal/paraganglial tumor tmpaxzxjjyw_mondo_relaxed.owl Orphanet:100091|UMLS:CN197370 Editor note: consider merging owl:Class MONDO:0002065 biolink:NamedThing benign breast adenomyoepithelioma A benign, nodular tumor that arises from the breast parenchyma. It is characterized by the proliferation of myoepithelial cells around spaces that are lined by epithelial cells. Occasionally, adenomyoepitheliomas may undergo malignant transformation. tmpaxzxjjyw_mondo_relaxed.owl benign adenomyoepithelioma of the breast|benign adenomyoepithelioma of breast|benign breast adenomyoepithelioma|breast adenomyoepithelioma, benign DOID:1641|UMLS:C1332477|NCIT:C5144 owl:Class GO:0031334 biolink:NamedThing positive regulation of protein-containing complex assembly Any process that activates or increases the frequency, rate or extent of protein complex assembly. tmpaxzxjjyw_mondo_relaxed.owl up regulation of protein complex assembly|positive regulation of protein complex assembly|activation of protein complex assembly|upregulation of protein complex assembly|up-regulation of protein complex assembly|stimulation of protein complex assembly owl:Class MONDO:0019747 biolink:NamedThing hematological disorder with renal involvement tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:93614|UMLS:CN227684 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hematologic disease' MONDO_0005570 owl:Class MONDO:0004442 biolink:NamedThing testis polyembryoma A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies. tmpaxzxjjyw_mondo_relaxed.owl polyembryoma of the testis|polyembryoma of testis|testicular polyembryoma UMLS:C1514200|DOID:8042|NCIT:C40962 owl:Class MONDO:0011911 biolink:NamedThing craniolenticulosutural dysplasia Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia. tmpaxzxjjyw_mondo_relaxed.owl craniolenticulosutural dysplasia|cranio-lenticulo-sutural dysplasia, CLSD|CLSD|Boyadjiev-Jabs syndrome OMIM:607812|ICD10:Q75.8|MESH:C564332|UMLS:C1843042|DOID:0070307|Orphanet:50814|SCTID:725100001 owl:Class MONDO:0003858 biolink:NamedThing anterior optic tract meningioma A meningioma that affects the anterior visual pathway. tmpaxzxjjyw_mondo_relaxed.owl anterior visual pathway meningioma DOID:6334|NCIT:C7538|UMLS:C1332308 owl:Class UBERON:0003429 biolink:NamedThing abdomen nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005701 biolink:NamedThing chlamydia trachomatis infectious disease An infection that is caused by Chlamydia trachomatis. tmpaxzxjjyw_mondo_relaxed.owl Chlamydial infection|Chlamydia trachomatis infectious disease|chlamydia|Chlamydia trachomatis disease or disorder|chlamydia trachomatis infectious disease|chlamydial disease|Chlamydia trachomatis caused disease or disorder NCIT:C34463|ICD9:078.88|ICD9:079.98|ICD9:079.88|SCTID:105629000|EFO:0007205|DOID:11263 owl:Class MONDO:0011449 biolink:NamedThing Salla disease Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life,followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures ; ataxia ; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. tmpaxzxjjyw_mondo_relaxed.owl SD|sialuria, Finnish type|sialic acid storage disease|Salla disease OMIM:604369|ICD10:E77.8|Orphanet:834|UMLS:C1096903|Orphanet:309334|MedDRA:10067531|NCIT:C85067|SCTID:87074006|GARD:0004754 https://rarediseases.info.nih.gov/diseases/4754/salla-disease owl:Class CHEBI:139592 biolink:NamedThing tertiary alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a carbon bearing two organyl groups. tmpaxzxjjyw_mondo_relaxed.owl tertiary alpha-hydroxy-ketones|tertiary alpha-hydroxyketones|tertiary alpha-hydroxyketone|tertiary alpha-hydroxy ketones|tertiary alpha-hydroxy-ketone owl:Class ENVO:01000044 biolink:NamedThing marine pelagic feature A prominent or distinctive aspect, quality, or characteristic of environments occurring within the marine water column. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001675 biolink:NamedThing acrosome assembly The formation of the acrosome from the spermatid Golgi. tmpaxzxjjyw_mondo_relaxed.owl acrosome formation owl:Class MONDO:0001766 biolink:NamedThing eversion of lacrimal punctum tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155243|ICD10:H04.52|ICD9:375.51|DOID:13651|SCTID:28244003 owl:Class UBERON:0011213 biolink:NamedThing root of vagus nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031349 biolink:NamedThing positive regulation of defense response Any process that activates or increases the frequency, rate or extent of a defense response. tmpaxzxjjyw_mondo_relaxed.owl up regulation of defense response|upregulation of defense response|stimulation of defense response|up-regulation of defense response|activation of defense response owl:Class MONDO:0001676 biolink:NamedThing erythropoietic protoporphyria A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly. tmpaxzxjjyw_mondo_relaxed.owl protoporphyria|EPP (erythropoietic protoporphyria porphyria) OMIM:177000|DOID:13270|SCTID:51022005|OMIMPS:177000|MESH:D046351|OMIM:300752|NCIT:C84698|ICD10:E80.0|Orphanet:79278 owl:Class GO:0002313 biolink:NamedThing mature B cell differentiation involved in immune response The process in which a naive B cell acquires the specialized features of a mature or memory B cell during an immune response. tmpaxzxjjyw_mondo_relaxed.owl mature B cell development involved in immune response|mature B lymphocyte differentiation during immune response|mature B-cell differentiation during immune response|mature B-lymphocyte differentiation during immune response|mature B cell differentiation during immune response owl:Class GO:0002312 biolink:NamedThing B cell activation involved in immune response The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpaxzxjjyw_mondo_relaxed.owl B-cell activation during immune response|B cell activation during immune response|B lymphocyte activation during immune response|B-lymphocyte activation during immune response owl:Class MONDO:0018256 biolink:NamedThing acute myeloid leukemia with t(8;16)(p11;p13) translocation A distinct form of Acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. tmpaxzxjjyw_mondo_relaxed.owl AML with t(8;16)(p11;p13) translocation UMLS:CN204831|UMLS:C4511003|Orphanet:370026|ICD10:C92.0|SCTID:725390002 owl:Class CHEBI:24402 biolink:NamedThing glycosphingolipid A glycosphingolipid is a glycolipid that is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid. tmpaxzxjjyw_mondo_relaxed.owl glycosphingolipids owl:Class ENVO:00002013 biolink:NamedThing igneous rock Rock formed from molten magma. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014267 biolink:NamedThing severe combined immunodeficiency due to IKK2 deficiency Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present. tmpaxzxjjyw_mondo_relaxed.owl SCID due to IKK2 deficiency|immunodeficiency type 15|immunodeficiency 15|IMD15 UMLS:C3810043|OMIM:615592|Orphanet:397787|ICD10:D81.2 owl:Class MONDO:0044201 biolink:NamedThing T+ B+ severe combined immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl T+B+ SCID|T-cell positive B-cell positive SCID ICD10:D81.2|Orphanet:397802 owl:Class MONDO:0013083 biolink:NamedThing neuroblastoma, susceptibility to, 3 Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene. tmpaxzxjjyw_mondo_relaxed.owl NBLST3|susceptibility to neuroblastoma 3|ALK neuroblastoma|neuroblastoma caused by mutation in ALK|neuroblastoma, susceptibility to, type 3|neuroblastoma, susceptibility to, 3 Orphanet:635|OMIM:613014 owl:Class UBERON:0013506 biolink:NamedThing cervical vertebra pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100001 biolink:NamedThing alpha-gal syndrome An IgE antibody response to a mammalian oligosaccharide epitope, galactose-alpha-1,3-galactose (alpha-gal). tmpaxzxjjyw_mondo_relaxed.owl allergic galactose-alpha-1,3-galactose disease 2018-03-13 04:40:23+00:00 owl:Class MONDO:0018901 biolink:NamedThing left ventricular noncompaction Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events. tmpaxzxjjyw_mondo_relaxed.owl left ventricular non-compaction syndrome|left ventricular hypertrabeculation|left ventricular noncompaction (disease)|Lv non-compaction syndrome|spongy myocardium|left ventricular non-compaction cardiomyopathy|LVNC left ventricular noncompaction (disease) GARD:0010985|OMIM:611878|OMIM:609470|OMIM:615373|ICD10:I42.8|Orphanet:54260|UMLS:C1960469|OMIM:613426|OMIM:604169|OMIM:613424|OMIM:601494|OMIM:615396|NCIT:C99544|DOID:0060480|UMLS:C4021133|OMIM:615092|OMIMPS:604169|OMIM:601493 https://rarediseases.info.nih.gov/diseases/10985/left-ventricular-noncompaction owl:Class HGNC:4585 biolink:NamedThing GRIN2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7579 biolink:NamedThing MYH9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001231 biolink:NamedThing Abnormal fingernail morphology An abnormality of the fingernails. tmpaxzxjjyw_mondo_relaxed.owl Abnormal fingernails|Abnormality of the fingernails UMLS:C4021782 human_phenotype owl:Class HP:0001597 biolink:NamedThing Abnormality of the nail Abnormality of the nail. tmpaxzxjjyw_mondo_relaxed.owl Nail disease|Abnormality of the nail SNOMEDCT_US:17790008|UMLS:C0027339|MSH:D009264|UMLS:C0853087|MSH:D009260 Abnormality of the fingernails and/or toenails. human_phenotype owl:Class MONDO:0009650 biolink:NamedThing mucolipidosis type II Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly. tmpaxzxjjyw_mondo_relaxed.owl ML disorder type 2|ML 2 Alpha/Beta|ML 2|N-acetylglucosamine 1phosphotransferase deficiency|GNPTA|mucolipidosis 2 alpha/beta|inclusion cell disease|mucolipidosis II alpha/beta|mucolipidosis type II alpha/beta|Leroy disease|mucolipidosis type II|I cell disease|mucolipidosis 2|mucolipidosis II|I-cell disease|N-acetylglucosamine 1-phosphotransferase deficiency MESH:C538602|UMLS:C2673377|DOID:0080070|Orphanet:576|ICD10:E77.0|OMIM:252500|SCTID:70199000|NCIT:C61270|UMLS:C0020725|GARD:0006749 owl:Class GO:0051656 biolink:NamedThing establishment of organelle localization The directed movement of an organelle to a specific location. tmpaxzxjjyw_mondo_relaxed.owl establishment of organelle localisation owl:Class MONDO:0008777 biolink:NamedThing gelatinous drop-like corneal dystrophy Gelatinous drop-like corneal dystrophy (GDCD) is a form of superficial corneal dystrophy characterized by multiple prominent milky-white gelatinous nodules beneath the corneal epithelium, and marked visual impairment. tmpaxzxjjyw_mondo_relaxed.owl amyloidosis, corneal|CDGDL|corneal dystrophy, lattice type 3|corneal amyloidosis|primary familial amyloidosis of the cornea|lattice corneal dystrophy type 3|subepithelial amyloidosis of the cornea|amyloidosis corneal|Cdgdl|amyloid corneal dystrophy, Japanese type|gelatinous drop-like corneal dystrophy|GDCD|GDLD|lattice corneal dystrophy, type 3|corneal dystrophy, gelatinous drop-like UMLS:C0339273|DOID:0060449|Orphanet:98957|GARD:0009647|OMIM:204870|ICD10:H18.5|MESH:C535480|NCIT:C142805 https://rarediseases.info.nih.gov/diseases/9647/amyloidosis-corneal owl:Class GO:0045985 biolink:NamedThing positive regulation of pyrimidine nucleobase metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. tmpaxzxjjyw_mondo_relaxed.owl activation of pyrimidine base metabolic process|positive regulation of pyrimidine base metabolism|positive regulation of pyrimidine base metabolic process|up regulation of pyrimidine base metabolic process|up-regulation of pyrimidine base metabolic process|stimulation of pyrimidine base metabolic process|upregulation of pyrimidine base metabolic process owl:Class UBERON:0001971 biolink:NamedThing gastric juice tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025095 biolink:NamedThing malaria, avian Any of a group of infections of fowl caused by protozoa of the genera plasmodium, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria. tmpaxzxjjyw_mondo_relaxed.owl Avian Malarias|Avian malaria|Malarias, Avian UMLS:C0024533|MESH:D008289 owl:Class UBERON:0001277 biolink:NamedThing intestinal epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010999 biolink:NamedThing fallot complex-intellectual disability-growth delay syndrome Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. tmpaxzxjjyw_mondo_relaxed.owl Bindewald-Ulmer-Müller syndrome|Bindewald Ulmer Muller syndrome|FALLOT complex with severe mental and growth retardation ICD10:Q87.8|UMLS:C1832735|OMIM:601127|GARD:0000893|SCTID:723336008|Orphanet:3304|MESH:C536608 owl:Class GO:0051147 biolink:NamedThing regulation of muscle cell differentiation Any process that modulates the frequency, rate or extent of muscle cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002819 biolink:NamedThing regulation of adaptive immune response Any process that modulates the frequency, rate, or extent of an adaptive immune response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046852 biolink:NamedThing positive regulation of bone remodeling Any process that activates or increases the frequency, rate or extent of bone remodeling. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of bone remodeling|stimulation of bone remodeling|up regulation of bone remodeling|upregulation of bone remodeling|activation of bone remodeling owl:Class MONDO:0017101 biolink:NamedThing isolated focal cortical dysplasia type IIa tmpaxzxjjyw_mondo_relaxed.owl FCD type IIa ICD10:Q04.8|Orphanet:269001|OMIM:607341 owl:Class MONDO:0043519 biolink:NamedThing burn A traumatic injury involving interruption of tissue cohesiveness that results from exposure to caustic chemicals, extreme heat, extreme cold or excessive radiation. tmpaxzxjjyw_mondo_relaxed.owl burn|Burn|Burn(s) SCTID:125666000|EFO:1001768|MESH:D002056|NCIT:C34441 owl:Class MONDO:0004262 biolink:NamedThing breast myoepitheliosis A multifocal neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within and/or around small breast ducts. tmpaxzxjjyw_mondo_relaxed.owl breast myoepitheliosis NCIT:C40385|UMLS:C1513799|DOID:7521 owl:Class MONDO:0002483 biolink:NamedThing breast myoepithelial tumor A benign or malignant tumor that arises from the breast and originates from or is composed of myoepithelial cells. Representative examples include adenomyoepithelioma, myoepitheliosis, and malignant myoepithelioma. tmpaxzxjjyw_mondo_relaxed.owl breast myoepithelial tumor|breast myoepithelial neoplasm DOID:3004|NCIT:C40389|UMLS:C1511319 owl:Class GO:0005978 biolink:NamedThing glycogen biosynthetic process The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues. tmpaxzxjjyw_mondo_relaxed.owl glycogen anabolism|glycogen synthesis|glycogen biosynthesis|glycogen formation owl:Class MONDO:0043071 biolink:NamedThing Zazam Sheriff Phillips syndrome tmpaxzxjjyw_mondo_relaxed.owl aniridia, lens luxation, mental retardation|aniridia, ectopia lentis, abnormal upper incisors and mental retardation|aniridia, lens luxation, intellectual disability|aniridia, ectopia lentis, abnormal upper incisors and intellectual disability UMLS:C2931300|MESH:C536723|GARD:0000339 owl:Class MONDO:0015841 biolink:NamedThing partial septate uterus Partial septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which extends from the uterine fundus and does not reach the internal cervical os (variable lengths and widths may be observed). Although frequently asymptomatic, an increased risk of poor reproductive outcome has been observed. Urinary tract abnormalities are very rarely associated. tmpaxzxjjyw_mondo_relaxed.owl subtotal septate uterus|uterus subseptus SCTID:5364006|ICD10:Q51.2|Orphanet:180129 owl:Class UBERON:0006534 biolink:NamedThing renal convoluted tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019380 biolink:NamedThing western equine encephalitis An acute arboviral infection caused by an alphavirus of the Togaviridae family transmitted by an infected mosquito, that more frequently affects children and that is characterized by the presence of mild flulike symptoms (fever, chills, headache, nausea, vomiting, and anorexia) but that can progress to weakness, altered mental status, photophobia, mental confusion, seizures, somnolence, coma and/or even death. The disease can leave neurological sequelae, mainly in infants and children, such as seizures, spasticity or behavioral disorders. tmpaxzxjjyw_mondo_relaxed.owl WEE|Western equine encephalitis virus caused infectious encephalitis|Western equine encephalomyelitis|Western equine encephalitis virus infectious encephalitis NCIT:C85227|UMLS:C0153064|DOID:10843|ICD9:062.1|MedDRA:10014614|MESH:D020241|ICD10:A83.1|SCTID:47523006|Orphanet:83593|EFO:0007546|GARD:0007888 https://rarediseases.info.nih.gov/diseases/7888/western-equine-encephalitis owl:Class MONDO:0012206 biolink:NamedThing Czech dysplasia, metatarsal type Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes. tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia with precocious osteoarthritis|Czech dysplasia metatarsal type|Czech dysplasia|pseudorheumatoid dysplasia, progressive, with hypoplastic toes|Czech dysplasia, metatarsal type|pseudorheumatoid dysplasia progressive, with hypoplastic toes GARD:0010220|SCTID:720826006|MESH:C535766|OMIM:609162|ICD10:Q77.7|Orphanet:137678 https://rarediseases.info.nih.gov/diseases/10220/czech-dysplasia-metatarsal-type owl:Class UBERON:0006966 biolink:NamedThing coronary capillary tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1392 biolink:NamedThing Bacillus anthracis tmpaxzxjjyw_mondo_relaxed.owl anthrax bacterium|Bacteridium anthracis|Bacillus cereus var. anthracis|anthrax GC_ID:11|PMID:8123566 NCBITaxon:1494531|NCBITaxon:1494577|NCBITaxon:1494525 ncbi_taxonomy owl:Class UBERON:0035804 biolink:NamedThing future mouth tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015730 biolink:NamedThing mosaic trisomy 17 Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported. tmpaxzxjjyw_mondo_relaxed.owl chromosome 17, trisomy mosaicism|Mosaic trisomy type 17|trisomy 17|trisomy 17 mosaicism|Mosaic trisomy chromosome 17|chromosome 17 duplication|chromosome 17 trisomy|chromosome 17, trisomy Orphanet:1711|SCTID:764622004|MESH:C538044|NCIT:C37865|ICD10:Q92.1|GARD:0005317|UMLS:C1096168 owl:Class MONDO:0011871 biolink:NamedThing Niemann-Pick disease type B Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea tmpaxzxjjyw_mondo_relaxed.owl Niemann Pick disease type B|Niemann-Pick disease, type E|Niemann-Pick disease, type F|Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression|type B Niemann-Pick disease|Niemann-PICK disease, type B Orphanet:99022|ICD10:E75.2|DOID:0070112|OMIM:607616|SCTID:39390005|Orphanet:77293|ICD10:E75.241|NCIT:C126866|MESH:D052537|UMLS:C0268243|GARD:0010729 https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b owl:Class MONDO:0011646 biolink:NamedThing laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy tmpaxzxjjyw_mondo_relaxed.owl laryngeal abductor paralysis with cerebellar ataxia and motor neuropathy MESH:C565252|UMLS:C1853556|OMIM:606183 owl:Class MONDO:0013593 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 64 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant deafness 64|DFNA64|DIABLO autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness 64|autosomal dominant nonsyndromic deafness caused by mutation in DIABLO|deafness, autosomal dominant type 64|deafness, autosomal dominant 64|autosomal dominant nonsyndromic deafness type 64 DOID:0110585|ICD10:H90.3|OMIM:614152|UMLS:C3279948 owl:Class MONDO:0023203 biolink:NamedThing Fuchs atrophia gyrata chorioideae et retinae tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019407 biolink:NamedThing microcephalic osteodysplastic dysplasia, Saul-Wilson type A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1. tmpaxzxjjyw_mondo_relaxed.owl microcephalic osteodysplastic dysplasia, Saul-Wilson type|Saul-Wilson syndrome|SWILS|microcephalic osteodysplastic dysplasia DOID:0111673|Orphanet:85172|OMIM:618150|ICD10:Q78.8 owl:Class MONDO:0019948 biolink:NamedThing reducing body myopathy Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres. tmpaxzxjjyw_mondo_relaxed.owl GARD:0012162|ICD10:G71.2|DOID:0080090|SCTID:42779002|OMIM:300717|Orphanet:97239|ICD9:359.89|OMIM:300718 https://rarediseases.info.nih.gov/diseases/12162/reducing-body-myopathy owl:Class UBERON:0012344 biolink:NamedThing holocrine gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0001217 biolink:NamedThing protein_coding_gene A gene that codes for an RNA that can be translated into a protein. tmpaxzxjjyw_mondo_relaxed.owl protein coding gene owl:Class MONDO:0018763 biolink:NamedThing Tubulinopathy-associated dysgyria tmpaxzxjjyw_mondo_relaxed.owl brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome UMLS:CN242152|Orphanet:467166 owl:Class CL:0002556 biolink:NamedThing fibroblast of periodontium A fibroblast of the periodontium. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-02-28T05:19:48Z cell owl:Class MONDO:0016783 biolink:NamedThing maternal 14q32.2 hypermethylation syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202039|ICD10:Q99.8|Orphanet:254534 owl:Class MONDO:0001114 biolink:NamedThing bacterial myocarditis Myocarditis that is caused by an infection with a bacterial agent. tmpaxzxjjyw_mondo_relaxed.owl septic myocarditis ICD9:422.92|UMLS:C1384588|UMLS:C0155690|ICD10:I40.0|SCTID:64043005|DOID:10779|NCIT:C128380 owl:Class MONDO:0001842 biolink:NamedThing uterine corpus dissecting leiomyoma A rare morphologic variant of uterine corpus leiomyoma. Macroscopically, it is characterized by large, fungating, and multinodular neoplasm masses arising from the uterine corpus, and extending into the broad ligament or the peritoneal cavity. Microscopically, it shows neoplastic smooth muscle cells infiltrating the myometrium. The neoplastic cells are arranged in a micronodular pattern. Hydropic changes and increased vascularity are also present. tmpaxzxjjyw_mondo_relaxed.owl Sternberg tumor|Cotyledonoid dissecting leiomyoma DOID:13953|NCIT:C40172|UMLS:C1519847 owl:Class MONDO:0007886 biolink:NamedThing uterine corpus leiomyoma A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl uterine leiomyoma|uterine corpus fibroid|leiomyoma, uterine|fibroid of the uterine body|leiomyoma of uterine body|leiomyoma of body of uterus|leiomyoma of corpus uteri|corpus uteri leiomyoma|corpus uteri fibroid|fibroid of corpus uteri|uterine corpus leiomyomata|fibroid of the body of uterus|uterine corpus leiomyoma|leiomyoma of the body of uterus|fibroid of the corpus uteri|uterus fibroma|leiomyoma of the corpus uteri|fibroid of uterine corpus|leiomyoma of uterine corpus|body of uterus leiomyoma|leiomyoma of the uterine body|uterine body fibroid|fibroid of the uterine corpus|uterine fibroid|leiomyoma of the uterine corpus|fibroid of uterine body|plexiform leiomyoma|uterine body leiomyoma|fibroid of body of uterus|UL|body of uterus fibroid NCIT:C3434|HP:0000131|MESH:D007889|ONCOTREE:ULM|UMLS:C0042133|ICD10:D25|NCIT:C3157|ICD9:218|ICD9:218.9|OMIM:150699|SCTID:146801000119103|ICD10:D25.9|UMLS:C2242776|MESH:D047708|DOID:13223|EFO:0000731|NCIT:C7052|SCTID:95315005 owl:Class MONDO:0009955 biolink:NamedThing rapadilino syndrome RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence. tmpaxzxjjyw_mondo_relaxed.owl absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate|radial and patellar aplasia|radial and patellar hypoplasia|rapadilino syndrome OMIM:266280|SCTID:702413000|ICD9:759.89|UMLS:C1849453|DOID:0050774|MESH:C535288|Orphanet:3021|GARD:0004637|ICD10:Q87.1 https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome owl:Class MONDO:0002452 biolink:NamedThing prostate leiomyoma A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl prostate leiomyoma|leiomyoma of prostate|leiomyoma of prostate gland|leiomyoma of the prostate|prostate gland leiomyoma|prostatic leiomyoma DOID:2887|NCIT:C5544|UMLS:C1335510 owl:Class MONDO:0003836 biolink:NamedThing malignant thyroid stimulating hormone producing neoplasm of pituitary gland A rare, hormonally functioning or non-functioning pituitary gland adenocarcinoma that produces thyrotropin. tmpaxzxjjyw_mondo_relaxed.owl malignant TSH secreting pituitary gland neoplasm|malignant thyroid stimulating hormone producing neoplasm of the pituitary|malignant thyrotropinoma|malignant TSH producing neoplasm of pituitary gland|malignant thyroid stimulating hormone producing pituitary neoplasm|malignant thyroid stimulating hormone secreting pituitary gland tumor|malignant TSH producing pituitary tumor|malignant thyroid stimulating hormone producing tumor of the pituitary gland|malignant thyroid stimulating hormone producing tumor of pituitary|malignant thyroid stimulating hormone producing pituitary tumor|thyrotropin producing pituitary gland carcinoma|malignant thyroid stimulating hormone secreting neoplasm of the pituitary gland|malignant thyroid stimulating hormone secreting pituitary tumor|malignant TSH secreting neoplasm of the pituitary|malignant TSH secreting neoplasm of pituitary|malignant thyroid stimulating hormone producing tumor|malignant pituitary gland thyrotropinoma|malignant thyroid stimulating hormone secreting neoplasm of pituitary gland|malignant thyroid stimulating hormone secreting tumor of the pituitary|malignant thyroid stimulating hormone secreting neoplasm of the pituitary|malignant thyroid stimulating hormone producing tumor of pituitary gland|malignant thyrotropinoma of the pituitary|malignant pituitary thyrotropinoma|malignant TSH producing tumor of pituitary gland|TSH-producing pituitary gland carcinoma|malignant thyroid stimulating hormone producing tumor of the pituitary|malignant TSH producing pituitary gland tumor|TSH producing pituitary gland carcinoma|malignant TSH producing neoplasm of the pituitary gland|malignant TSH secreting neoplasm of pituitary gland|malignant TSH producing pituitary neoplasm|malignant TSH secreting pituitary gland tumor|malignant thyroid stimulating hormone secreting pituitary neoplasm|malignant TSH producing tumor of the pituitary|malignant thyrotropinoma of pituitary gland|malignant thyroid stimulating hormone secreting neoplasm of pituitary|malignant thyroid stimulating hormone secreting tumor of pituitary gland|malignant thyroid stimulating hormone producing neoplasm of pituitary gland|malignant thyrotropinoma of the pituitary gland|malignant TSH secreting tumor of pituitary gland|malignant TSH producing neoplasm of pituitary|malignant thyroid stimulating hormone secreting tumor of pituitary|malignant TSH producing tumor of pituitary|malignant thyroid stimulating hormone producing pituitary gland tumor|malignant TSH producing pituitary gland neoplasm|malignant thyroid stimulating hormone secreting tumor of the pituitary gland|malignant thyroid stimulating hormone secreting pituitary gland neoplasm|malignant thyroid stimulating hormone producing neoplasm of the pituitary gland|malignant TSH secreting neoplasm of the pituitary gland|malignant TSH producing tumor of the pituitary gland|malignant TSH secreting tumor of the pituitary gland|malignant TSH secreting pituitary tumor|malignant TSH secreting pituitary neoplasm|malignant TSH secreting tumor of pituitary|malignant TSH producing neoplasm of the pituitary|malignant thyroid stimulating hormone producing pituitary gland neoplasm|malignant thyroid stimulating hormone producing neoplasm of pituitary|malignant TSH secreting tumor of the pituitary|malignant thyrotropinoma of pituitary NCIT:C5965|UMLS:C1334627|DOID:6274 owl:Class GO:0007010 biolink:NamedThing cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpaxzxjjyw_mondo_relaxed.owl cytoskeletal organization and biogenesis|cytoskeletal regulator activity|cytoskeleton organisation|cytoskeleton organization and biogenesis owl:Class MONDO:0002244 biolink:NamedThing factor VII deficiency A coagulation disorder characterized by the partial or complete absence of factor VII activity in the blood. tmpaxzxjjyw_mondo_relaxed.owl deficiency, stable|F7 deficiency|factor 7 deficiency|factor VII deficiency UMLS:C0015503|MESH:D005168|ICD9:286.3|SCTID:37193007 owl:Class HP:0011947 biolink:NamedThing Respiratory tract infection An infection of the upper or lower respiratory tract. tmpaxzxjjyw_mondo_relaxed.owl Respiratory tract infection|Respiratory infection|Respiratory infections SNOMEDCT_US:275498002|UMLS:C0035243|MSH:D012141 peter 2012-06-21T08:26:36Z human_phenotype owl:Class HGNC:3148 biolink:NamedThing TYMP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019891 biolink:NamedThing monosomy 22 tmpaxzxjjyw_mondo_relaxed.owl monosomy type 22|deletion 22|Del(22) NCIT:C36461|UMLS:C0795878|ICD10:Q93.0|Orphanet:96123 owl:Class MONDO:0003337 biolink:NamedThing acute hemorrhagic encephalitis Acute encephalitis that is characterized by bleeding. tmpaxzxjjyw_mondo_relaxed.owl acute hemorrhagic encephalitis NCIT:C35796|UMLS:C1332149|DOID:5224 owl:Class MONDO:0009574 biolink:NamedThing megalencephaly with dysmyelination tmpaxzxjjyw_mondo_relaxed.owl megalencephaly with diffuse white matter hypodensity|megalencephaly with dysmyelination OMIM:249240|MESH:C565408|UMLS:C1855309 owl:Class OBO:CHR_9606-chr9q33.3-q34.11 biolink:NamedThing 9q33.3-q34.11 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class UBERON:0003643 biolink:NamedThing respiratory system arterial blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005028 biolink:NamedThing esophageal adenocarcinoma A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of esophagus|esophagus adenocarcinoma|adenocarcinoma - esophagus|adenocarcinoma of the esophagus|esophageal adenocarcinoma|oesophageal adenocarcinoma ONCOTREE:ESCA|ICD10:C15.2|DOID:4914|ICD10:C15.5|OMIM:614266|SCTID:276803003|Orphanet:99976|UMLS:C0279628|OMIM:109350|NCIT:C4025|EFO:0000478 owl:Class NCBITaxon:4734 biolink:NamedThing commelinids tmpaxzxjjyw_mondo_relaxed.owl Commelinidae|Commeliniflorae GC_ID:1|PMID:26350789 ncbi_taxonomy owl:Class NCBITaxon:1437197 biolink:NamedThing Petrosaviidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:26350789 ncbi_taxonomy owl:Class HGNC:18062 biolink:NamedThing GPT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045910 biolink:NamedThing negative regulation of DNA recombination Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of DNA recombination|inhibition of DNA recombination|downregulation of DNA recombination|down regulation of DNA recombination owl:Class MONDO:0007552 biolink:NamedThing pretibial dystrophic epidermolysis bullosa Pretibial dystrophic epidermolysis bullosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the pretibial region. tmpaxzxjjyw_mondo_relaxed.owl Deb, pretibial|dystrophic epidermolysis bullosa, pretibial|epidermolysis bullosa dystrophica, pretibial|DEB-Pt|pretibial epidermolysis bullosa|epidermolysis bullosa, pretibial|pretibial DEB GARD:0002155|Orphanet:79410|ICD10:Q81.2|SCTID:67653003|OMIM:131850|MESH:C535494|ICD9:757.39 owl:Class MONDO:0019372 biolink:NamedThing solitary bone cyst A solitary bone cyst is a benign non-epithelial bone cavity that is asymptomatic and that is found most commonly in the second decade of life by chance. The long bones are most often affected, but cases involving the jaw bone have been reported. tmpaxzxjjyw_mondo_relaxed.owl bone cyst|unicameral bone cyst|solitary cyst|simple bone cyst|cyst of bone|cyst of the bone NCIT:C2904|ICD9:733.21|Orphanet:83468|ICD10:M85.4|MESH:D001845|SCTID:203467005 Editor note: we follow ORDO and classify as neoplasm but neoplastic nature not defined in NCIT owl:Class HP:0002870 biolink:NamedThing Obstructive sleep apnea A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. tmpaxzxjjyw_mondo_relaxed.owl Obstructive sleep apnoea SNOMEDCT_US:78275009|MSH:D020181|UMLS:C0520679 human_phenotype owl:Class HP:0010535 biolink:NamedThing Sleep apnea An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. tmpaxzxjjyw_mondo_relaxed.owl Sleep apnoea|Pauses in breathing while sleeping MSH:D012891|SNOMEDCT_US:73430006|UMLS:C0037315 peter 2009-09-21T08:53:35Z human_phenotype owl:Class MONDO:0013460 biolink:NamedThing osteogenesis imperfecta type 12 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene. tmpaxzxjjyw_mondo_relaxed.owl osteogenesis imperfecta type XII|OI, type 12|SP7 osteogenesis imperfecta|OI12|osteogenesis imperfecta, type XII|osteogenesis imperfecta, type 12|osteogenesis imperfecta caused by mutation in SP7 OMIM:613849|DOID:0110348|UMLS:C3151433|ICD10:Q78.0|Orphanet:216820 owl:Class UBERON:0000085 biolink:NamedThing morula tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004897 biolink:NamedThing hypotropia Vertical strabismus in which there is permanent downward deviation of the visual axis of one eye. tmpaxzxjjyw_mondo_relaxed.owl sunset sign|downward ocular deviation|hypotropia DOID:9841|ICD9:378.32|SCTID:29491004|NCIT:C42086|UMLS:C0152208 owl:Class MONDO:0011000 biolink:NamedThing guanylate cyclase 2E tmpaxzxjjyw_mondo_relaxed.owl GC-E|GUCY2E|guanylate cyclase type 2E|guanylate cyclase 2E|Gucy2D, mouse, homolog of|GUCY2EP|guanylate cyclase 2E, pseudogene|guanylyl cyclase, Membrane, type E OMIM:601138 owl:Class MONDO:0054701 biolink:NamedThing Kleefstra syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl Kleefstra syndrome 2|KLEFS2 DOID:0080598|OMIM:617768 owl:Class GO:0031339 biolink:NamedThing negative regulation of vesicle fusion Any process that stops, prevents, or reduces the frequency, rate or extent of vesicle fusion. tmpaxzxjjyw_mondo_relaxed.owl inhibition of vesicle fusion|down regulation of vesicle fusion|down-regulation of vesicle fusion|downregulation of vesicle fusion owl:Class HP:0004298 biolink:NamedThing Abnormality of the abdominal wall The presence of any abnormality affecting the abdominal wall. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the abdominal wall|Abnormality of external features of the abdomen UMLS:C4021664 peter 2008-02-20T11:40:00Z HP:0001462 human_phenotype owl:Class MONDO:0015619 biolink:NamedThing non-syndromic urogenital tract malformation A urogenital tract malformation that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic urogenital tract malformation|isolated urogenital tract malformation Orphanet:165704 owl:Class MONDO:0009858 biolink:NamedThing Pfeiffer-Palm-Teller syndrome Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl PPT syndrome|Pfeiffer-Palm-Teller syndrome|short stature, unique facies, enamel hypoplasia, progressive Joint stiffness, and high-pitched voice|short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched voice|Pfeiffer Palm Teller syndrome MESH:C537889|Orphanet:2871|UMLS:C1849929|ICD10:Q87.1|GARD:0004305|OMIM:261560|SCTID:726672000 https://rarediseases.info.nih.gov/diseases/4305/pfeiffer-palm-teller-syndrome owl:Class UBERON:0015479 biolink:NamedThing scrotum skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008209 biolink:NamedThing Char syndrome Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. tmpaxzxjjyw_mondo_relaxed.owl patent ductus arteriosus with facial dysmorphism and abnormal fifth digits|CHAR syndrome|Char|Char syndrome|patent ductus arteriosus with Facial Dysmorphism and abnormal fifth digits|CHAR MESH:C566815|SCTID:703534001|DOID:0060563|Orphanet:46627|GARD:0001237|ICD9:759.89|UMLS:C1868570|ICD10:Q87.8|OMIM:169100 https://rarediseases.info.nih.gov/diseases/1237/char-syndrome owl:Class MONDO:0005937 biolink:NamedThing REM sleep behavior disorder A disorder characterized by episodes of vigorous and often violent motor activity during rem sleep (sleep, rem). The affected individual may inflict self injury or harm others, and is difficult to awaken from this condition. Episodes are usually followed by a vivid recollection of a dream that is consistent with the aggressive behavior. This condition primarily affects adult males. (From Adams et al., Principles of Neurology, 6th ed, p393) tmpaxzxjjyw_mondo_relaxed.owl rapid eye movement sleep behavior disorder ICD9:780.59|MESH:D020187|DOID:9091|EFO:0007462|ICD9:327.42|ICD10:G47.52|SCTID:415238003 owl:Class HGNC:12303 biolink:NamedThing TRIO tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0001012 biolink:NamedThing CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor tmpaxzxjjyw_mondo_relaxed.owl Originally described in the dendritic cell ontology (DC_CL:1110000)(PMID:19243617). cell owl:Class FOODON:03411013 biolink:NamedThing plant used for producing extract or concentrate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006613 biolink:NamedThing stromal corneal pigmentation Stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium. tmpaxzxjjyw_mondo_relaxed.owl stromal corneal pigmentations EFO:1000770|UMLS:C0155105|SCTID:55031000|ICD9:371.12|ICD10:H18.06|DOID:12311 owl:Class MONDO:0008409 biolink:NamedThing MYH7-related late-onset scapuloperoneal muscular dystrophy tmpaxzxjjyw_mondo_relaxed.owl MYH7-related scapuloperoneal myopathy|scapuloperoneal muscular dystrophy|MYH7-related late-onset scapuloperoneal syndrome|scapuloperoneal syndrome, myopathic type|SPMM|scapuloperoneal myopathy, MYH7-related|MYH7-related late-onset SPMD|SPMD UMLS:C2931268|Orphanet:437572|UMLS:CN074265|ICD10:G71.0|GARD:0010313|UMLS:C0751337|SCTID:129620000|OMIM:181430 owl:Class UBERON:0005996 biolink:NamedThing mitral valve cusp tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010185 biolink:NamedThing rete ovarii tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005005 biolink:NamedThing mucosa of left ureter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016323 biolink:NamedThing chronic respiratory distress with surfactant metabolism deficiency tmpaxzxjjyw_mondo_relaxed.owl OMIM:610913|Orphanet:217566|ICD10:J84.8 owl:Class MONDO:0017032 biolink:NamedThing primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder tmpaxzxjjyw_mondo_relaxed.owl primary ILD in childhood and adulthood due to alveolar structure disorder 2022-03-01 Orphanet:264930|UMLS:CN202344 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class GO:0009612 biolink:NamedThing response to mechanical stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus. tmpaxzxjjyw_mondo_relaxed.owl chemi-mechanical coupling|mechanical stimulus response owl:Class MONDO:0011929 biolink:NamedThing chromosome 1p36 deletion syndrome A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency. tmpaxzxjjyw_mondo_relaxed.owl deletion 1pter|1p Telomere Deletion syndrome|Del(1)(p36)|1p36 deletion syndrome|monosomy 1P36 syndrome|subtelomeric 1p36 deletion|deletion 1p36|monosomy 1p36|monosomy 1pter|chromosome 1p36 deletion syndrome SCTID:699306003|DOID:0060410|GARD:0006082|ICD10:Q93.5|MESH:C535362|OMIM:607872|UMLS:C1842870|NCIT:C74983|ICD9:758.39|Orphanet:1606 https://rarediseases.info.nih.gov/diseases/6082/chromosome-1p36-deletion-syndrome|https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0011509 biolink:NamedThing low density lipoprotein cholesterol, mild elevation of tmpaxzxjjyw_mondo_relaxed.owl Ldlc, mild elevation of|low density lipoprotein cholesterol, mild elevation of OMIM:605028 owl:Class MONDO:0005541 biolink:NamedThing spondylolysis A defect in the pars interarticularis of a vertebral bone. tmpaxzxjjyw_mondo_relaxed.owl spondylolysis|spondylolysis (disease) spondylolysis (disease) EFO:0005649|NCIT:C35034|HP:0003304|DOID:2300|MESH:D013169|SCTID:240221008|ICD10:M43.0|ICD10:M43.00|SCTID_2010_1_31:240221008|UMLS:C0038018 owl:Class HGNC:10979 biolink:NamedThing SLC25A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13433 biolink:NamedThing ROBO3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012806 biolink:NamedThing ectodermal dysplasia and immunodeficiency 2 tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant|EPAID2 Orphanet:238468|Orphanet:98813|OMIM:612132|MESH:C567411|UMLS:C2677481 owl:Class MONDO:0010293 biolink:NamedThing ectodermal dysplasia and immune deficiency tmpaxzxjjyw_mondo_relaxed.owl Xhm-Ed|hypohidrotic ectodermal dysplasia with immune deficiency|anhidrotic ectodermal dysplasia with immune deficiency|HED-ID|ectodermal dysplasia, hypohidrotic, with immune deficiency|hypohidrotic ectodermal dysplasia with immunodeficiency|EDA-ID|anhidrotic ectodermal dysplasia with immunodeficiency|ectodermal dysplasia, anhidrotic, with immune deficiency|hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia Orphanet:238468|Orphanet:98813|UMLS:C1846006|OMIM:612132|NCIT:C118844|GARD:0009936|MESH:C536181|OMIM:300291|OMIMPS:300291|ICD10:D82.8|SCTID:703525006 owl:Class HP:0031690 biolink:NamedThing Opportunistic infection An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. tmpaxzxjjyw_mondo_relaxed.owl 2017-12-17 22:11:49+00:00 Opportunistic infection are infections that occur more often or are more severe in people with weakened immune systems than in those with normal immune system functioning. peter human_phenotype owl:Class MONDO:0014667 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene. tmpaxzxjjyw_mondo_relaxed.owl CEMCOX3|fatal infantile encephalocardiomyopathy caused by mutation in COA5|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3|COA5 fatal infantile encephalocardiomyopathy Orphanet:1561|OMIM:616500|UMLS:C4225154|DOID:0080359 owl:Class HGNC:8864 biolink:NamedThing CFP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015568 biolink:NamedThing isolated congenital nasal pyriform aperture stenosis tmpaxzxjjyw_mondo_relaxed.owl isolated nasal pyriform aperture hypoplasia|isolated apertura pyriformis stenosis ICD10:Q30.8|Orphanet:162516 owl:Class MONDO:0016983 biolink:NamedThing Bartter syndrome with hypocalcemia Bartter syndrome with hypocalcemia is a type of Bartter syndrome characterized by hypocalcemia, hypomagnesemia and hypoparathyroidism along with features of Henle's loop dysfunction (polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II). Bartter syndrome with hypocalcemia is a very rare manifestation of autosomal dominant hypocalcemia (ADH) tmpaxzxjjyw_mondo_relaxed.owl Bartter syndrome type 5|Bartter syndrome type V OMIM:601198|Orphanet:263417|ICD10:E26.8|UMLS:C3715128 owl:Class UBERON:0018321 biolink:NamedThing foramen for glossopharyngeal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:36277 biolink:NamedThing bile acid salt A salt of a bile acid. tmpaxzxjjyw_mondo_relaxed.owl bile acid salts owl:Class CHEBI:24868 biolink:NamedThing organic salt tmpaxzxjjyw_mondo_relaxed.owl organic salts|organisches Salz owl:Class MONDO:0020363 biolink:NamedThing honey-droplet corneal dystrophy tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207218|ICD10:H18.5|Orphanet:98958 owl:Class MONDO:0010561 biolink:NamedThing Coffin-Lowry syndrome Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes. tmpaxzxjjyw_mondo_relaxed.owl CLS|Coffin syndrome 1|Coffin-Lowry syndrome|lean spastic dwarfism|mental retardation with osteocartilaginous abnormalities|Coffin syndrome|COFFIN-Lowry syndrome|intellectual disability with osteocartilaginous abnormalities|dwarfism, lean spastic type UMLS:C0265252|SCTID:15182000|ICD10:Q87.0|ICD9:759.89|DOID:3783|GARD:0006123|GARD:0008589|NCIT:C84643|OMIM:303600|MESH:D038921|Orphanet:192|MESH:C536435 https://rarediseases.info.nih.gov/diseases/6123/coffin-lowry-syndrome|https://rarediseases.info.nih.gov/diseases/8589/coffin-syndrome-1 owl:Class HGNC:4217 biolink:NamedThing GDF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018365 biolink:NamedThing malignant non-epithelial tumor of ovary tmpaxzxjjyw_mondo_relaxed.owl non-epithelial cancer of ovary|ovarian malignant non-epithelial tumor|ovarian non-epithelial cancer UMLS:CN205032|Orphanet:398940 Editor note: consider axiomatizing. This includes sex-cord and germ cell. Note some GCTs have names suggesting epithelial original such as embryonal/choriocarcinoma owl:Class HGNC:23801 biolink:NamedThing SIPA1L3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012833 biolink:NamedThing Crouzon syndrome-acanthosis nigricans syndrome Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease), associated with acanthosis nigricans (AN). tmpaxzxjjyw_mondo_relaxed.owl Crouzon-dermoskeletal syndrome|Crouzon syndrome with acanthosis nigricans|can|CAN|chronic allograft nephropathy|Crouzonodermoskeletal syndrome|Chronic kidney allograft nephropathy NCIT:C38145|SCTID:702361006|Orphanet:93262|OMIM:612247|MESH:C567382|ICD10:Q75.1|DOID:0111161 owl:Class MONDO:0018153 biolink:NamedThing Erdheim-Chester disease Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement. tmpaxzxjjyw_mondo_relaxed.owl Erdheim-Chester disease|Erdheim Chester disease|ECD|polyostotic sclerosing histiocytosis|lipoid granulomatosis|lipogranulomatosis MedDRA:10060801|DOID:4329|ICD10:D76.3|ICD9:277.89|UMLS:C0878675|Orphanet:35687|MESH:D031249|NCIT:C53972|GARD:0006369|ONCOTREE:ECD|EFO:1000926|SCTID:699537002 owl:Class MONDO:0017955 biolink:NamedThing granulomatous autoinflammatory syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:324930|UMLS:CN204101 owl:Class UBERON:0001593 biolink:NamedThing venous plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031226 biolink:NamedThing intrinsic component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpaxzxjjyw_mondo_relaxed.owl intrinsic to plasma membrane owl:Class OBO:CHR_9606-chr17q2 biolink:NamedThing 17q2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 83257441 39800000 hg38 owl:Class HP:0033100 biolink:NamedThing Increased proteinogenic amino acid level in urine An elevated level of a proteinogenic amino acid in the urine. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. tmpaxzxjjyw_mondo_relaxed.owl peter human_phenotype owl:Class MONDO:0033650 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 15 tmpaxzxjjyw_mondo_relaxed.owl MC4DN15 OMIM:619059 owl:Class MONDO:0013675 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 2 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene. tmpaxzxjjyw_mondo_relaxed.owl multiple mitochondrial dysfunctions syndrome type 2|BOLA3 deficiency|multiple mitochondrial dysfunctions syndrome 2|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3|MMDS2|BOLA3 fatal multiple mitochondrial dysfunctions syndrome|multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia Orphanet:401874|OMIM:614299|Orphanet:289573|ICD10:E88.8|UMLS:C3280378|DOID:0080134 owl:Class HGNC:26594 biolink:NamedThing DOK7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010975 biolink:NamedThing arrhythmogenic right ventricular dysplasia 2 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the RYR2 gene. tmpaxzxjjyw_mondo_relaxed.owl familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2|familial arrhythmogenic right ventricular dysplasia 2|arrhythmogenic right ventricular dysplasia, familial, type 2|ARVC2|arrhythmogenic right ventricular cardiomyopathy 2|arrhythmogenic right ventricular dysplasia type 2|RYR2 familial isolated arrhythmogenic right ventricular dysplasia|ARVD2|arrhythmogenic right ventricular dysplasia, familial, 2 Orphanet:217656|MESH:C563409|DOID:0110071|UMLS:C1832931|ICD10:I42.8|OMIM:600996 owl:Class MONDO:0010929 biolink:NamedThing craniosynostosis 4 Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene. tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis 4|craniosynostosis type 4|ERF craniosynostosis|CRS4|ERF-related craniosynostosis|craniosynostosis caused by mutation in ERF Orphanet:3267|UMLS:C3806917|OMIM:600775|Orphanet:35093|Orphanet:2343 owl:Class GO:0006141 biolink:NamedThing regulation of purine nucleobase metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving purines. tmpaxzxjjyw_mondo_relaxed.owl regulation of purine base metabolic process|regulation of purine base metabolism owl:Class HGNC:6487 biolink:NamedThing LAMB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021291 biolink:NamedThing carcinoma in situ of fundus of stomach A in situ carcinoma that involves the fundus of stomach. tmpaxzxjjyw_mondo_relaxed.owl carcinoma in situ of the gastric fundus|carcinoma in situ of the fundus of the stomach|carcinoma in situ of gastric fundus|gastric fundus carcinoma in situ|stage 0 fundus of stomach carcinoma|carcinoma in situ of fundus of stomach|fundus of stomach carcinoma in situ|fundus of stomach in situ carcinoma|gastric fundus carcinoma in situ aJCC v6 and v7|stage 0 gastric fundus carcinoma NCIT:C4429|UMLS:C0345800|SCTID:92598002 owl:Class PATO:0001592 biolink:NamedThing increased curvature A curvature which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011110 biolink:NamedThing Recurrent tonsillitis Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. tmpaxzxjjyw_mondo_relaxed.owl IRecurrent inflammation of tonsils MSH:D014069|UMLS:C0040425|SNOMEDCT_US:90176007 peter 2011-06-10T07:46:38Z human_phenotype owl:Class HP:0100765 biolink:NamedThing Abnormality of the tonsils An abnormality of the tonsils. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4021975 doelkens 2011-06-07T10:43:35Z human_phenotype owl:Class UBERON:0003551 biolink:NamedThing midbrain pia mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007772 biolink:NamedThing scrotal sweat tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004827 biolink:NamedThing esophagus squamous cell papilloma A rare neoplasm arising from the distal third of the esophagus. Morphologically, it is characterized by the presence of fibrovascular cores covered by mature stratified squamous epithelium. Progression to squamous cell carcinoma is extremely rare. tmpaxzxjjyw_mondo_relaxed.owl esophagus squamous papilloma|squamous cell papilloma of esophagus|squamous cell papilloma of the esophagus|esophagus squamous cell papilloma|esophageal squamous papilloma UMLS:C1333467|NCIT:C5344|DOID:959 owl:Class MONDO:0019939 biolink:NamedThing early-onset schizophrenia tmpaxzxjjyw_mondo_relaxed.owl ICD10:F20.8|Orphanet:96369 owl:Class MONDO:0011680 biolink:NamedThing autosomal recessive congenital ichthyosis 3 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ALOXE3 gene. tmpaxzxjjyw_mondo_relaxed.owl lamellar ichthyosis 5|ichthyosis, congenital, autosomal recessive 3|ichthyosis, congenital, autosomal recessive type 3|ARCI3|ichthyosis, lamellar, 5, formerly|autosomal recessive congenital ichthyosis type 3|collodion baby, self-healing|ichthyosis, lamellar, 5 Orphanet:281122|MESH:C564699|DOID:0060711|OMIM:606545|Orphanet:313|ICD10:Q80.2|Orphanet:79394 owl:Class HGNC:10457 biolink:NamedThing RS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070069 biolink:NamedThing cytochrome complex A protein complex in which at least one of the proteins is a cytochrome, i.e. a heme-containing protein involved in catalysis of redox reactions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044213 biolink:NamedThing acute idiopathic urticaria Acute form of idiopathic urticaria. tmpaxzxjjyw_mondo_relaxed.owl idiopathic urticaria, acute|acute idiopathic urticaria UMLS:C0578869|SCTID:302161006 owl:Class MONDO:0044211 biolink:NamedThing idiopathic urticaria tmpaxzxjjyw_mondo_relaxed.owl idiopathic angioedema-urticaria SCTID:42265009|ICD9:708.1|ICD10:L50.1|UMLS:C0157741 owl:Class MONDO:0019508 biolink:NamedThing van der Woude syndrome Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate. tmpaxzxjjyw_mondo_relaxed.owl lip pit syndrome|VWS|cleft lip and/or palate with mucous cysts of lower lip|LPS|lip-pit syndrome|cleft lip/palate with mucous cysts of lower lip ICD10:Q38.0|UMLS:C0175697|OMIM:604547|Orphanet:888|GARD:0008414|OMIM:119300|NCIT:C74986|MESH:C536528|DOID:0060239|SCTID:79261008|OMIM:606713|ICD9:744.89 owl:Class CHEBI:46209 biolink:NamedThing L-tyrosinal An amino aldehyde that is L-tyrosine in which the carboxy group has undergone formal redution to give the corrresponding aldehyde tmpaxzxjjyw_mondo_relaxed.owl TYROSINAL|(2S)-2-amino-3-(4-hydroxyphenyl)propanal|L-tyr aldehyde|(2S)-2-amino-3-(p-hydroxyphenyl)propanal owl:Class HP:0000502 biolink:NamedThing Abnormal conjunctiva morphology An abnormality of the conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025847 The conjunctiva is a thin, sparsely vascularized transparent membrane that covers and protects the sclera (the bulbar conjunctiva), and forms the inner lining of the eyelids (the tarsal conjunctiva). human_phenotype owl:Class UBERON:0005269 biolink:NamedThing renal cortex vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024498 biolink:NamedThing glioma susceptibility 1 tmpaxzxjjyw_mondo_relaxed.owl oligodendroglioma|glioblastoma multiforme|astrocytoma|GLM1|ependymoma|subependymoma|glioma of brain, familial|glioma susceptibility 1 OMIM:137800|Orphanet:182067 owl:Class UBERON:0008817 biolink:NamedThing thymus primordium endoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:85004 biolink:NamedThing Bifidobacteriales tmpaxzxjjyw_mondo_relaxed.owl PMID:27446019|GC_ID:11|PMID:19244447 ncbi_taxonomy owl:Class MONDO:0001812 biolink:NamedThing parasitic eyelid infestation tmpaxzxjjyw_mondo_relaxed.owl parasitic eyelid infestation|parasitic infestation of eyelid ICD9:373.6|SCTID:193922006|UMLS:C0155183|DOID:13823 owl:Class MONDO:0017161 biolink:NamedThing frontotemporal dementia with motor neuron disease Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset. tmpaxzxjjyw_mondo_relaxed.owl FTD-MND|FTDALS|frontotemporal dementia with ALS|frontotemporal dementia with amyotrophic lateral sclerosis|FTD-ALS UMLS:CN239493|OMIM:613954|UMLS:C3888102|Orphanet:275872|OMIMPS:105550|OMIM:612069|OMIM:105550|OMIM:616439|OMIM:616437|OMIM:615911|OMIM:608030 owl:Class UBERON:0007722 biolink:NamedThing interphalangeal joint of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016185 biolink:NamedThing qualitative or quantitative defects of protein O-mannosyltransferase 2 tmpaxzxjjyw_mondo_relaxed.owl qualitative or quantitative defects of protein O-mannosyltransferase type 2 Orphanet:209033 owl:Class MONDO:0021294 biolink:NamedThing carcinoma in situ of gastric cardia A in situ carcinoma that involves the cardia of stomach. tmpaxzxjjyw_mondo_relaxed.owl gastric cardia carcinoma in situ aJCC v6 and v7|carcinoma in situ of the gastric cardia|carcinoma in situ of the cardia of the stomach|carcinoma in situ of cardia of stomach|stage 0 gastric cardia carcinoma|gastric cardia carcinoma in situ|cardia of stomach in situ carcinoma|cardia of stomach carcinoma in situ|stage 0 cardia of stomach carcinoma NCIT:C4428|SCTID:92560002|UMLS:C0345795 owl:Class MONDO:0003834 biolink:NamedThing gastric cardia carcinoma A carcinoma that arises from epithelial cells of the cardia of stomach. tmpaxzxjjyw_mondo_relaxed.owl cancer of the gastric cardia|carcinoma of gastric cardia|carcinoma of cardia of stomach|gastric cardia cancer|carcinoma of the cardia of the stomach|carcinoma of the gastric cardia|cardia of stomach carcinoma|cancer of gastric cardia|gastric cardia (stomach) cancer NCIT:C6794|EFO:1001252|UMLS:C1333763|DOID:6270 owl:Class MONDO:0012899 biolink:NamedThing alopecia, androgenetic, 3 tmpaxzxjjyw_mondo_relaxed.owl alopecia, androgenetic, 3|AGA3 UMLS:C2676272|MESH:C567317|OMIM:612421 owl:Class GO:0097384 biolink:NamedThing cellular lipid biosynthetic process The chemical reactions and pathways resulting in the formation of lipids, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl cellular lipid biosynthesis|cellular lipid synthesis|cellular lipid formation|cellular lipid anabolism owl:Class MONDO:0006007 biolink:NamedThing vesicoureteral reflux Abnormal flow of urine from the urinary bladder back into the ureters. tmpaxzxjjyw_mondo_relaxed.owl vesicoureteral reflux|vesicoureteral reflux (disease)|vesico-ureteral reflux vesicoureteral reflux (disease) HP:0000076|ICD9:593.7|EFO:0007536|SCTID:197811007|ICD10:N13.7|MESH:D014718|Orphanet:289365|NCIT:C84467|ICD10:N13.70|DOID:9620|UMLS:C0042580 owl:Class UBERON:0005002 biolink:NamedThing mucosa of right hepatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:53469 biolink:NamedThing Ancylostomatinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012284 biolink:NamedThing nephropathy, progressive, with deafness tmpaxzxjjyw_mondo_relaxed.owl Alport/focal segmental glomerulosclerosis-like syndrome|Nede|nephropathy, progressive, with deafness OMIM:609469|MESH:C563713|UMLS:C1836119 owl:Class MONDO:0020506 biolink:NamedThing ovarioleukodystrophy tmpaxzxjjyw_mondo_relaxed.owl ICD10:E75.2|OMIM:615889|Orphanet:99853|UMLS:C1847967|OMIM:603896 owl:Class MONDO:0011380 biolink:NamedThing leukoencephalopathy with vanishing white matter A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect. tmpaxzxjjyw_mondo_relaxed.owl CACH/VWM syndrome|vanishing White matter leukodystrophy|Cree leukoencephalopathy|ovarioleukodystrophy|vanishing White matter leukodystrophy with ovarian failure|childhood ataxia with central nervous system hypomyelination|Cree leukoencehalopathy|CACH|childhood ataxia with central nervous system hypomyelination/vanishing white matter|CACH/VWM|vanishing white matter leukodystrophy|childhood ataxia with central nervous system hypomyelinization|vanishing white matter disease|childhood ataxia with diffuse central nervous system hypomyelination|leukoencephalopathy with vanishing white matter|VWM|myelinosis centralis diffusa|leukoencephalopathy with vanishing WHITE matter|CACH syndrome Orphanet:99854|DOID:0060868|OMIM:603896|NCIT:C122664|Orphanet:157716|Orphanet:135|SCTID:447351004|ICD10:E75.2|UMLS:C1858991|OMIM:615889|UMLS:CN199219|Orphanet:99853|Orphanet:157719|UMLS:C1847967|GARD:0000231|Orphanet:157713 owl:Class MONDO:0500018 biolink:NamedThing acute fibrinous and organizing pneumonia A rare pulmonary disease with histological pattern of interstitial pneumonitis characterized by the deposit of intra-alveolar fibrin and diffuse organizing pneumonia within the alveolar ducts and bronchioles, with large etiological spectra. tmpaxzxjjyw_mondo_relaxed.owl AFOP http://orcid.org/0000-0001-5839-2535 owl:Class NCBITaxon:11229 biolink:NamedThing Morbillivirus tmpaxzxjjyw_mondo_relaxed.owl Morbilliviruses GC_ID:1 ncbi_taxonomy owl:Class HGNC:7773 biolink:NamedThing NF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:18154 biolink:NamedThing polysaccharide A biomacromolecule consisting of large numbers of monosaccharide residues linked glycosidically. This term is commonly used only for those containing more than ten monosaccharide residues. tmpaxzxjjyw_mondo_relaxed.owl Polysaccharide|polisacarido|polisacaridos|Glycan|Glykan|Glycane|polysaccharides|glycans|Glykane owl:Class CHEBI:167559 biolink:NamedThing glycan Any oligosaccharide, polysaccharide or their derivatives consisting of monosaccharides or monosaccharide derivatives linked by glycosidic bonds. See also http://www.ontobee.org/ontology/GNO?iri=http://purl.obolibrary.org/obo/GNO_00000001. tmpaxzxjjyw_mondo_relaxed.owl glycans owl:Class MONDO:0021056 biolink:NamedThing familial adenomatous polyposis 1 Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene. tmpaxzxjjyw_mondo_relaxed.owl adenomatous polyposis coli, attenuated|Gardner syndrome|familial adenomatous polyposis, attenuated|APC attenuated familial adenomatous polyposis|adenomatous polyposis of the colon|FAP1|familial polyposis of the colon|familial adenomatous polyposis 1|attenuated familial adenomatous polyposis caused by mutation in APC|brain tumor-polyposis syndrome 2|polyposis, adenomatous intestinal Orphanet:733|OMIM:175100|Orphanet:247806|Orphanet:79665|DOID:0080409|UMLS:C0017097|Orphanet:99818|UMLS:C2674616|Orphanet:220460 owl:Class MONDO:0003635 biolink:NamedThing sebaceous breast carcinoma A very rare breast adenocarcinoma with sebaceous differentiation. tmpaxzxjjyw_mondo_relaxed.owl breast sebaceous adenocarcinoma|sebaceous adenocarcinoma of breast|sebaceous breast carcinoma NCIT:C40369|UMLS:C1519207|DOID:5760 owl:Class HGNC:26624 biolink:NamedThing KDF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013440 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2P Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related|muscular dystrophy, limb-girdle, type 2P|muscular dystrophy-dystroglycanopathy (limb-girdle) type C9|muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9|limb-girdle muscular dystrophy type 2P|DAG1 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related|LGMD2P|autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1|MDDGC9 ICD10:G71.0|DOID:0110293|OMIM:613818|Orphanet:280333|GARD:0012541|UMLS:C3151184 owl:Class CL:0000051 biolink:NamedThing common lymphoid progenitor A oligopotent progenitor cell committed to the lymphoid lineage. tmpaxzxjjyw_mondo_relaxed.owl CLP|early lymphocyte progenitor|common lymphoid precursor|lymphoid stem cell|lymphopoietic stem cell|committed lymphopoietic stem cell|ELP|common lymphocyte progenitor|common lymphocyte precursor CLP are CD7-positive, CD10-positive, CD19-negative, CD34-positive, CD45RA-positive, CD79a-negative, CD127-positive, AA4.1-positive, RAG-negative, Sca-1-low, sIgM-negative, sIgD-negative, TdT-negative, Vpre-B-negative, and pre-BCR-negative. Expression of transcription factors include E2A-positive, EBF-positive, Ikaros-negative, PU.1-negative, and Pax5-negative. CL:0000044 cell owl:Class UBERON:0006291 biolink:NamedThing scapula pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015057 biolink:NamedThing scapula endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011274 biolink:NamedThing Muenke syndrome Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay. tmpaxzxjjyw_mondo_relaxed.owl FGFR3-related craniosynostosis|Muenke syndrome|Muenke nonsyndromic coronal craniosynostosis|MNKES|syndrome of coronal craniosynostosis UMLS:C1864436|MESH:C537369|DOID:0060703|GARD:0007097|ICD10:Q87.0|NCIT:C84904|OMIM:602849|Orphanet:53271|SCTID:440350001 https://rarediseases.info.nih.gov/diseases/7097/muenke-syndrome owl:Class NCBITaxon:2497574 biolink:NamedThing Monjiviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2497570 biolink:NamedThing Haploviricotina tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HsapDv:0000092 biolink:NamedThing human middle aged stage Late adulthood that refers to an adult who is over 45 and under 65. tmpaxzxjjyw_mondo_relaxed.owl 45-64 years owl:Class MONDO:0017429 biolink:NamedThing joint formation defects tmpaxzxjjyw_mondo_relaxed.owl Orphanet:294949 owl:Class UBERON:0006925 biolink:NamedThing digestive system gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022982 biolink:NamedThing die Smulders Vles Fryns syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001858 https://rarediseases.info.nih.gov/diseases/1858/die-smulders-vles-fryns-syndrome owl:Class MONDO:0002860 biolink:NamedThing testis rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the testis. tmpaxzxjjyw_mondo_relaxed.owl testis rhabdomyosarcoma (disease)|rhabdomyosarcoma of testis|rhabdomyosarcoma (disease) of testis|rhabdomyosarcoma of the testis|testicular rhabdomyosarcoma NCIT:C6378|UMLS:C1336726|DOID:4061 owl:Class MONDO:0022762 biolink:NamedThing chromosome 4 short arm deletion tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 4p|partial monosomy 4p|4p monosomy|partial deletion of the short arm of chromosome type 4|partial deletion of the short arm of chromosome 4|chromosome 4p deletion|deletion 4p|4p deletion|partial monosomy of the short arm of chromosome 4|monosomy 4p|partial deletion of chromosome 4p MESH:C537637|ICD10:Q93.3|Orphanet:261884|GARD:0006090 owl:Class CHEBI:131604 biolink:NamedThing Mycoplasma genitalium metabolite Any bacterial metabolite produced during a metabolic reaction in Mycoplasma genitalium. tmpaxzxjjyw_mondo_relaxed.owl Mycoplasma genitalium metabolites owl:Class MONDO:0010915 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 4A Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness caused by mutation in MYH14|deafness, autosomal dominant type 4A|MYH14 autosomal dominant nonsyndromic deafness|DFNA4A|deafness, autosomal dominant 4A|autosomal dominant deafness 4A|autosomal dominant nonsyndromic deafness 4A|autosomal dominant nonsyndromic deafness type 4A|deafness, autosomal dominant 4 UMLS:C1833503|ICD10:H90.3|DOID:0110573|MESH:C563460|OMIM:600652 owl:Class GO:0002522 biolink:NamedThing leukocyte migration involved in immune response The movement of a leukocyte within or between different tissues and organs of the body as part of an immune response. tmpaxzxjjyw_mondo_relaxed.owl leucocyte migration during immune response|immune cell trafficking during immune response|leucocyte trafficking during immune response|immune cell migration during immune response|leukocyte trafficking during immune response owl:Class GO:0016413 biolink:NamedThing O-acetyltransferase activity Catalysis of the transfer of an acetyl group to an oxygen atom on the acceptor molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009566 biolink:NamedThing marfanoid habitus-autosomal recessive intellectual disability syndrome Marfanoid habitus B intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl MARFANOID intellectual disability syndrome, autosomal|Marfanoid intellectual disability syndrome autosomal|Marfanoid mental retardation syndrome autosomal|MARFANOID mental retardation syndrome, autosomal OMIM:248770|Orphanet:2463|UMLS:C1855347|MESH:C565410|GARD:0003388|ICD10:Q87.8 owl:Class GO:0002443 biolink:NamedThing leukocyte mediated immunity Any process involved in the carrying out of an immune response by a leukocyte. tmpaxzxjjyw_mondo_relaxed.owl immune cell mediated immunity|immune cell effector process|cell-mediated immune response|cellular immune response|leucocyte immune effector process|leukocyte immune effector process|leucocyte mediated immunity owl:Class HGNC:11831 biolink:NamedThing TK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008243 biolink:NamedThing upper back muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017060 biolink:NamedThing open iniencephaly tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q00.2|SCTID:203928008|Orphanet:268363 owl:Class MONDO:0018968 biolink:NamedThing iniencephaly Iniencephaly is a rare form of neural tube defect in which a malformation of the cervico-occipital junction is associated with a malformation of the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:63259|ICD9:740.2|ICD10:Q00.2|GARD:0010506|MedDRA:10022034|SCTID:2438005|UMLS:C0152234|NCIT:C124549 https://rarediseases.info.nih.gov/diseases/10506/iniencephaly owl:Class MONDO:0001202 biolink:NamedThing prostatic cyst tmpaxzxjjyw_mondo_relaxed.owl cyst of prostate ICD9:600.3|ICD10:N42.83|SCTID:409658007|ICD9:599.89|UMLS:C1443972|DOID:11133 owl:Class MONDO:0003105 biolink:NamedThing prostate disorder A disease involving the prostate gland. tmpaxzxjjyw_mondo_relaxed.owl prostate disorder|prostate gland disease|prostate disease|disorder of prostate gland|disease of prostate gland|prostate gland disease or disorder|disease or disorder of prostate gland UMLS:C0033575|MESH:D011469|ICD10:N42.9|ICD9:602.8|DOID:47|NCIT:C26865|SCTID:30281009|ICD9:602.9 owl:Class HP:0004327 biolink:NamedThing Abnormal vitreous humor morphology Any structural anomaly of the vitreous body. tmpaxzxjjyw_mondo_relaxed.owl Abnormal vitreous humour morphology UMLS:C4025356 The vitreous humor is the clear gel that fills the space between the lens and the retina. peter 2008-02-27T04:20:00Z human_phenotype owl:Class HP:0004329 biolink:NamedThing Abnormal posterior eye segment morphology tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the posterior segment of the eye|Abnormal morphology of the posterior segment of the globe|Abnormality of the posterior segment of the eyeball|Abnormality of the posterior segment of the globe UMLS:C4025354 The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. peter 2008-02-27T04:25:00Z human_phenotype owl:Class MONDO:0012395 biolink:NamedThing cataract 18 Any cataract in which the cause of the disease is a mutation in the FYCO1 gene. tmpaxzxjjyw_mondo_relaxed.owl cataract, autosomal recessive congenital 2|cataract 18|cataract (disease) caused by mutation in FYCO1|autosomal recessive congenital cataract 2|cataract 18 autosomal recessive|CTRCT18|FYCO1 cataract (disease)|CATC2|cataract type 18 MESH:C535337|ICD10:Q12.0|DOID:0110238|OMIM:610019|GARD:0009892|Orphanet:98991|Orphanet:91492 owl:Class GO:0008242 biolink:NamedThing omega peptidase activity Catalysis of the cleavage of non-standard peptide bonds releasing substituted amino acids such as pyroglutamate or cleave isopeptide bonds, such as many deubiquitinating enzymes. tmpaxzxjjyw_mondo_relaxed.owl peptidase activity, acting on peptides containing modified amino acids owl:Class MONDO:0010206 biolink:NamedThing hypotrichosis 8 Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene. tmpaxzxjjyw_mondo_relaxed.owl hypotrichosis, localized, autosomal recessive 3|hypotrichosis caused by mutation in LPAR6|hypotrichosis type 8|LAH3|HYPT8|LPAR6 hypotrichosis|hypotrichosis 8|woolly hair, autosomal recessive 1, with or without hypotrichosis UMLS:C3279470|Orphanet:55654|OMIM:278150|MESH:C566950|DOID:0110705|Orphanet:170 owl:Class MONDO:0025270 biolink:NamedThing toxoplasmosis, non-human animal Acquired infection of non-human animals by organisms of the genus toxoplasma. tmpaxzxjjyw_mondo_relaxed.owl animal toxoplasmosis|Toxoplasmoses, animal|animal Toxoplasmoses MESH:D014124|UMLS:C0040559 owl:Class GO:0004737 biolink:NamedThing pyruvate decarboxylase activity Catalysis of the reaction: a 2-oxo acid = an aldehyde + CO2. tmpaxzxjjyw_mondo_relaxed.owl 2-oxo-acid carboxy-lyase (aldehyde-forming)|alpha-carboxylase activity|alpha-ketoacid carboxylase activity|2-oxo-acid carboxy-lyase activity|pyruvic decarboxylase activity owl:Class GO:0016831 biolink:NamedThing carboxy-lyase activity Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound. tmpaxzxjjyw_mondo_relaxed.owl decarboxylase activity owl:Class MONDO:0004349 biolink:NamedThing retina lymphoma A lymphoma that involves the retina. tmpaxzxjjyw_mondo_relaxed.owl retinal lymphoma|lymphoma of the retina|lymphoma of retina|retina lymphoma|primary retinal lymphoma NCIT:C4365|DOID:774|SCTID:232075002|UMLS:C0339556|ICD9:198.4 owl:Class MONDO:0016327 biolink:NamedThing mitochondrial disease with hypertrophic cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN201160|Orphanet:217587 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class MONDO:0016878 biolink:NamedThing partial deletion of chromosome 16 tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome type 16|partial monosomy of chromosome 16 ICD10:Q93.5|Orphanet:261826 owl:Class GO:0006558 biolink:NamedThing L-phenylalanine metabolic process The chemical reactions and pathways involving L-phenylalanine, the L-enantiomer of 2-amino-3-phenylpropanoic acid, i.e. (2S)-2-amino-3-phenylpropanoic acid. tmpaxzxjjyw_mondo_relaxed.owl phenylalanine metabolic process|phenylalanine metabolism|L-phenylalanine metabolism owl:Class HGNC:28018 biolink:NamedThing NIPAL4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001063 biolink:NamedThing cardia cancer A malignant neoplasm involving the cardia of stomach. tmpaxzxjjyw_mondo_relaxed.owl Ca cardia - stomach|cardia of stomach cancer|malignant neoplasm of cardia of stomach|cancer of cardia of stomach|malignant cardia of stomach neoplasm ICD9:151.0|SCTID:187732006|UMLS:C0153417|DOID:10548|ICD10:C16.0 owl:Class MONDO:0008824 biolink:NamedThing fetal akinesia deformation sequence Fetal akinesia deformation sequence (FADS) is a condition characterized by decreased fetal movement (fetal akinesia) as well as intra-uterine growth restriction (IUGR), multiple joint contractures (arthrogryposis), facial anomalies, underdevelopment of the lungs (pulmonary hypoplasia) and other developmental abnormalities. It is generally accepted that this condition is not a true diagnosis or a specific syndrome, but rather a description of a group of abnormalities resulting from fetal akinesia. About 30% of affected individuals are stillborn; many liveborn infants survive only a short time due to complications of pulmonary hypoplasia. FADS may be inherited in an autosomal recessive manner in some cases and may sometimes be caused by mutations in the RAPSN or DOK7 genes. tmpaxzxjjyw_mondo_relaxed.owl FADS|fetal akinesia deformation sequence|arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome|arthrogryposis multiplex congenita with pulmonary hypoplasia|fetal akinesia sequence NCIT:C129071|MESH:C536647|ICD9:754.89|DOID:0111375|OMIM:300073|ICD10:Q87.8|OMIMPS:208150|GARD:0009634|SCTID:401138005 https://rarediseases.info.nih.gov/diseases/9634/fetal-akinesia-deformation-sequence owl:Class MONDO:0020465 biolink:NamedThing congenital eyelid retraction Congenital eyelid retraction is a very rare kinetic eyelid anomaly that can affect the upper or lower eyelid, presents at birth, that in some cases can result in corneal exposure, and that may be associated with accessory levator muscle slips. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q10.3|Orphanet:99176|SCTID:715769008 Editor note: check ORDO classification owl:Class UBERON:0010586 biolink:NamedThing manual digit phalanx pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008755 biolink:NamedThing Moynahan syndrome tmpaxzxjjyw_mondo_relaxed.owl Moynahan alopecia syndrome|alopecia-epilepsy-intellectual disability syndrome, Moynahan type|alopecia-epilepsy-oligophrenia syndrome of Moynahan|alopecia epilepsy oligophrenia syndrome of Moynahan MESH:C537052|Orphanet:2574|GARD:0000606|OMIM:203600|ICD10:G40.4 owl:Class MONDO:0021465 biolink:NamedThing benign neoplasm of appendix A benign neoplasm that involves the vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl benign appendix neoplasm|benign tumor of the appendix|vermiform appendix benign neoplasm|benign tumor of appendix|benign neoplasm of the appendix|benign appendix tumor UMLS:C0496860|NCIT:C4773|ICD10:D12.1|SCTID:91981009 owl:Class MONDO:0007753 biolink:NamedThing Frey syndrome An autonomic disorder characterized by excessive sweating of the forehead, upper lip, perioral region, or sternum subsequent to gustatory stimuli. The auriculotemporal syndrome features facial flushing or sweating limited to the distribution of the auriculotemporal nerve and may develop after trauma to the parotid gland, in association with parotid neoplasms, or following their surgical removal. (From Ann Neurol 1997 Dec;42(6):973-5) tmpaxzxjjyw_mondo_relaxed.owl hyperhidrosis gustatory|hyperhidrosis, gustatory|Frey's syndrome|HYPRG|Baillarger syndrome|Frey syndrome|gustatory hyperhidrosis|gustatory sweating|auriculotemporal nerve syndrome OMIM:144100|DOID:11599|GARD:0006467|MESH:D013547|SCTID:238758008|EFO:1000940 owl:Class UBERON:0002507 biolink:NamedThing abdominal lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03411335 biolink:NamedThing crab Crabs are decapod crustaceans of the infraorder *Brachyura*, which typically have a very short projecting "tail", usually entirely hidden under the thorax. They live in all the world's oceans, in fresh water, and on land, are generally covered with a thick exoskeleton and have a single pair of claws. Many other animals with similar names - such as hermit crabs, king crabs, porcelain crabs, horseshoe crabs, and crab lice - are not true crabs. Crabs are generally covered with a thick exoskeleton, composed primarily of highly mineralized chitin, and armed with a single pair of chelae (claws). Crabs are found in all of the world's oceans, while many crabs live in fresh water and on land, particularly in tropical regions. [https://en.wikipedia.org/wiki/Crab] tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:438 biolink:NamedThing ALPL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021750 biolink:NamedThing pyonephrosis Pus within the collecting system of the kidney. tmpaxzxjjyw_mondo_relaxed.owl Hydronephrosis, Infected|Pyonephrosis|Infected Hydronephrosis|pyonephrosis UMLS:C0034216|SCTID:48631008|NCIT:C123032|MESH:D053018 owl:Class MONDO:0008623 biolink:NamedThing Undritz anomaly tmpaxzxjjyw_mondo_relaxed.owl Undritz anomaly|hypersegmentation of nuclei of polymorphonuclear leukocytes MESH:C566014|OMIM:191500|UMLS:C1860604 owl:Class MONDO:0008490 biolink:NamedThing otospondylomegaepiphyseal dysplasia, autosomal dominant A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Stickler syndrome nonocular type|Weissenbacher- Zweymuller syndrome|Stickler syndrome, type III, formerly|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type|Stickler syndrome caused by mutation in COL11A2|Piere-Robin syndrome|OSMEDA|STICKLER syndrome, type III|Stickler syndrome, type 3|OSMED, heterozygous|heterozygous otospondylomegaepiphyseal dysplasia|Stickler syndrome, non-ocular type|COL11A2 Stickler syndrome|STL3|Pierre Robin sequence-fetal chondrodysplasia syndrome|Stickler syndrome, Nonocular type|Weissenbacher-Zweymüller syndrome|WZS|Weissenbacher-Zweymuller syndrome|Pierre Robin syndrome-fetal chondrodysplasia syndrome|Pierre Robin malformation|Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly|Pierre Robin syndrome with fetal chondrodysplasia|heterozygous OSMED|otospondylomegaepiphyseal dysplasia, autosomal dominant OMIM:184840|MESH:C537494|SCTID:699313003|ICD10:Q77.7|GARD:0005021|ICD10:Q87.5|DOID:4258|Orphanet:166100|MESH:C535776|Orphanet:3450|OMIM:277610|GARD:0004351 owl:Class MONDO:0005568 biolink:NamedThing cholesterol embolism Blocking of a blood vessel by cholesterol-rich atheromatous deposits, generally occurring in the flow from a large artery to small arterial branches. It is also called arterial-arterial embolization or atheroembolism which may be spontaneous or iatrogenic. Patients with spontaneous atheroembolism often have painful, cyanotic digits of acute onset. tmpaxzxjjyw_mondo_relaxed.owl atheroembolism|cholesterol crystal embolism|warfarin blue toe syndrome|trash foot|purple toe syndrome DOID:1461|MESH:D017700|ICD9:459.89|ICD9:445|UMLS:C0585266|UMLS:C0149649|SCTID:307406004|ICD10:I75|EFO:0005801 owl:Class MONDO:0013095 biolink:NamedThing glioma susceptibility 6 tmpaxzxjjyw_mondo_relaxed.owl glioma susceptibility 6|GLM6 UMLS:C2751639|Orphanet:182067|OMIM:613031 owl:Class HGNC:25801 biolink:NamedThing CPLANE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009642 biolink:NamedThing orofaciodigital syndrome type II Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas. tmpaxzxjjyw_mondo_relaxed.owl Ofds 2|oral facial digital syndrome type 2|orofaciodigital syndrome II|orofaciodigital syndrome 2|MOHR syndrome|Mohr syndrome|oral-Facial-digital syndrome, type 2|oral-facial-digital syndrome type 2|OFD2|OFD syndrome 2|oral facial digital syndrome 2|orofaciodigital syndrome type 2 ICD10:Q87.0|Orphanet:2751|ICD9:759.89|GARD:0003701|OMIM:252100|SCTID:1779005 owl:Class MONDO:0015814 biolink:NamedThing primary cutaneous follicle center lymphoma A primary lymphoma of the skin composed of various numbers of small and large irregular neoplastic follicle center cells. Its morphologic pattern can be nodular, diffuse, or nodular and diffuse. It presents with solitary or grouped plaques and tumors, and it usually involves the scalp, forehead, or trunk. It rarely involves the legs. This type of cutaneous lymphoma tends to remain localized to the skin. tmpaxzxjjyw_mondo_relaxed.owl Reticulohistiocytoma of the dorsum|PCFCL|cutaneous follicle centre lymphoma|Crosti's disease|cutaneous follicle center lymphoma ONCOTREE:PCFCL|UMLS:C1333171|SCTID:404143002|NCIT:C7217|ICDO:9597/3|Orphanet:178540|ICD10:C82.6 owl:Class CL:0002325 biolink:NamedThing mammary alveolar cell The milk-producing cell of the alveolar unit that emerges during pregnancy. tmpaxzxjjyw_mondo_relaxed.owl luminal cell of alveolus of lactiferous gland|epithelial cell of lactiferous gland FMA:79866|FMA:74506 tmeehan 2010-09-20T01:30:57Z CL:1000476|CL:0002230 cell owl:Class CL:0000314 biolink:NamedThing milk secreting cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class NCBITaxon:2560080 biolink:NamedThing Rubulavirinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11158 biolink:NamedThing Paramyxoviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018370 biolink:NamedThing KLHL9-related early-onset distal myopathy KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G71.0|SCTID:763776004|Orphanet:399081 owl:Class MONDO:0005662 biolink:NamedThing balantidiasis Infection by parasites of the genus balantidium. The presence of Balantidium in the large intestine leads to diarrhea; dysentery; and occasionally ulcer. tmpaxzxjjyw_mondo_relaxed.owl balantidiosis|ciliary dysentery|B coli infection|Balantidiases|Human balantidiasis|large-intestinal infection with Balantidium coli|Balantidium coli infection GARD:0000809|MESH:D001447|ICD9:007.0|Orphanet:1223|UMLS:C0004692|NCIT:C84583|SCTID:57725006|EFO:0007163|MedDRA:10004080|DOID:12386|ICD10:A07.0 https://rarediseases.info.nih.gov/diseases/809/balantidiasis owl:Class HP:0030828 biolink:NamedThing Wheezing A high-pitched whistling sound associated with labored breathing. tmpaxzxjjyw_mondo_relaxed.owl Wheezing MSH:D012135|UMLS:C0043144|SNOMEDCT_US:56018004 Wheezes and rhonchi are continuous musical lung sounds. The American Thoracic Society (ATS) Committee on pulmonary nomenclature defines wheezes as high-pitched continuous sounds with a dominant frequency of 400 Hz or more, and rhonchi as low-pitched continuous musical sounds with a dominant frequency of about 200 Hz or less human_phenotype owl:Class HP:0030829 biolink:NamedThing Abnormal breath sound An anomalous (adventitious) sound produced by the breathing process. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0231856|SNOMEDCT_US:301273002 human_phenotype owl:Class MONDO:0002009 biolink:NamedThing major depressive disorder An episode of depression lasting two or more weeks without an intervening episode of mania. tmpaxzxjjyw_mondo_relaxed.owl recurrent major depression|unipolar depression|major depressive disorder|single major depressive episode|major depression EFO:0003761|SCTID:370143000|MESH:D003865|ICD10:F33|ICD10:F33.9|MFOMD:0000143|OMIM:608520|ICD9:296.20|OMIM:608516|ICD9:296.2|OMIM:608691|DOID:2848|ICD10:F32|NCIT:C35094|ICD9:296.3|DOID:1470|SCTID:300706003|DOID:1595|MESH:D003866|NCIT:C34796|SCTID:35489007|ICD10:F32.9|ICD9:296.30 owl:Class GO:0008284 biolink:NamedThing positive regulation of cell population proliferation Any process that activates or increases the rate or extent of cell proliferation. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cell proliferation|up-regulation of cell proliferation|activation of cell proliferation|upregulation of cell proliferation|stimulation of cell proliferation|up regulation of cell proliferation owl:Class MONDO:0044995 biolink:NamedThing parasympathetic nervous system disorder A disease or disorder that involves the parasympathetic nervous system. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of parasympathetic nervous system|parasympathetic nervous system disease|disease of parasympathetic nervous system|parasympathetic nervous system disease or disorder|disorder of parasympathetic nervous system SCTID:46091002 owl:Class MONDO:0009313 biolink:NamedThing Grubben-de Cock-Borghgraef syndrome Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients. tmpaxzxjjyw_mondo_relaxed.owl Grubben de Cock Borghgraef syndrome|severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin|developmental delay-hypotonia-extremities hypertrophy syndrome|growth retardation, small and puffy hands and feet, and eczema|developmental delay - hypotonia - extremities hypertrophy ICD10:Q87.8|Orphanet:2101|GARD:0002576|MESH:C537621|OMIM:233810|UMLS:C2931551 https://rarediseases.info.nih.gov/diseases/2576/grubben-de-cock-borghgraef-syndrome owl:Class GO:0045666 biolink:NamedThing positive regulation of neuron differentiation Any process that activates or increases the frequency, rate or extent of neuron differentiation. tmpaxzxjjyw_mondo_relaxed.owl up regulation of neuron differentiation|activation of neuron differentiation|stimulation of neuron differentiation|upregulation of neuron differentiation|up-regulation of neuron differentiation owl:Class GO:0045664 biolink:NamedThing regulation of neuron differentiation Any process that modulates the frequency, rate or extent of neuron differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019262 biolink:NamedThing white matter of myelencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008019 biolink:NamedThing mullerian aplasia and hyperandrogenism Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence of underdevelopment of the uterus, and sometimes absence of underdevelopment of the vagina. tmpaxzxjjyw_mondo_relaxed.owl Müllerian duct failure and hyperandrogenism|mullerian aplasia and hyperandrogenism|WNT4 deficiency|Müllerian aplasia and hyperandrogenism|Mullerian duct failure and hyperandrogenism Orphanet:247768|OMIM:158330|UMLS:C2675014|DOID:0111526|Orphanet:3109|NCIT:C120376|ICD10:Q51.8|MESH:C567186 owl:Class MONDO:0033551 biolink:NamedThing immunodeficiency 72 with autoinflammation tmpaxzxjjyw_mondo_relaxed.owl IMD72|IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION OMIM:618982 owl:Class UBERON:0016399 biolink:NamedThing lymph node of upper limb tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005731 biolink:NamedThing dipetalonemiasis A parasitic infection caused by genus of filarial worms called Dipetalonema. It produces microfilariae in the blood and body fluids. tmpaxzxjjyw_mondo_relaxed.owl infection by Dipetalonema perstans (disorder) [ambiguous]|Dipetalonema infectious disease|Mansonella perstans infectious disease|Mansonella perstans caused disease or disorder|Dipetalonema infection|Acanthocheilonema perstans infection|dipetalonemiasis|infection by Dipetalonema|Mansonella perstans disease or disorder|Dipetalonema infections|infection by Dipetalonema perstans|Acanthocheilonemiasis|Mansonella perstans NCIT:C34540|MESH:D004154|SCTID:15629006|GARD:0000004|ICD9:125.4|DOID:14422|UMLS:C0012517|EFO:0007237 Editor note: check taxonomy; Acanthocheilonema perstans and Dipetalonema perstans appear to be synonyms owl:Class MONDO:0014265 biolink:NamedThing Alzheimer disease 18 Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer's disease 18|Alzheimer disease 18, late-onset|Alzheimer disease type 18|ADAM10 Alzheimer disease|AD18|Alzheimer disease 18|Alzheimer disease caused by mutation in ADAM10|Alzheimer's disease type 18 UMLS:C3810041|DOID:0110050|OMIM:615590 owl:Class MONDO:0060622 biolink:NamedThing neurodevelopmental disorder with severe motor impairment and absent language tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with severe motor impairment and absent language|NEDMIAL UMLS:C4540496|OMIM:617804 owl:Class UBERON:0002173 biolink:NamedThing pulmonary alveolar duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013163 biolink:NamedThing nephronophthisis-like nephropathy 1 Any nephronophthisis in which the cause of the disease is a mutation in the XPNPEP3 gene. tmpaxzxjjyw_mondo_relaxed.owl XPNPEP3 nephronophthisis (disease)|NPHPL1|NPHP-XPNPEP3|nephronophthisis-like nephropathy type 1|nephronophthisis-like nephropathy 1|nephronophthisis (disease) caused by mutation in XPNPEP3 DOID:0111117|OMIM:613159|UMLS:C3150419|Orphanet:655 owl:Class MONDO:0003599 biolink:NamedThing vulvar liposarcoma A rare malignant adipose tissue neoplasm of the vulva. tmpaxzxjjyw_mondo_relaxed.owl mammalian vulva liposarcoma|vulvar liposarcoma|liposarcoma of mammalian vulva UMLS:C2184082|NCIT:C40321|DOID:5711 owl:Class CL:0000081 biolink:NamedThing blood cell A cell found predominately in the blood. tmpaxzxjjyw_mondo_relaxed.owl FMA:62844 cell owl:Class HGNC:28422 biolink:NamedThing TSEN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001094 biolink:NamedThing residual stage of open angle glaucoma tmpaxzxjjyw_mondo_relaxed.owl residual stage of open angle glaucoma|open-angle glaucoma residual stage UMLS:C0154944|SCTID:66990007|DOID:1066|ICD10:H40.15|ICD9:365.15 owl:Class MONDO:0045055 biolink:NamedThing glycogen-rich carcinoma A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma. tmpaxzxjjyw_mondo_relaxed.owl Glycogen-rich carcinoma NCIT:C4153 owl:Class MONDO:0002987 biolink:NamedThing spongiotic dermatitis A chronic inflammatory skin condition characterized by itchiness and a rash in the chest and abdominal areas. It affects males more than females and is usually contracted at a relatively young age. It is thought to be caused by an allergic reaction to food, insect bites, or medication. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000768|DOID:4406|UMLS:C0262984|NCIT:C27037|SCTID:23615008|ICD9:692.9 owl:Class MONDO:0005668 biolink:NamedThing bird fancier's lung Hypersensitivity granulomatous pneumonitis caused by the inhalation of avian antigens that are present in the dust of the droppings and feathers of many species of birds. In the acute phase it manifests as fever, chills, dyspnea, cough, and chest tightness. Chronic exposure may lead to interstitial lung fibrosis. tmpaxzxjjyw_mondo_relaxed.owl bird-fancier's lung|pigeon-breeder lung disease|pigeon breeder's lung|bird fancier's lung|pigeon-breeder's lung|bird breeder's lung|bird-fanciers' lung|poultry worker's lung|Avian hypersensitivity pneumonitis|bird fancier lung|bird-breeder's lung ICD10:J67.2|OMIM:145300|NCIT:C34425|MESH:D001716|ICD9:495.2|EFO:0007170|DOID:13891|Orphanet:99908|SCTID:69339004|UMLS:C0005592|MedDRA:10004941 owl:Class MONDO:0022020 biolink:NamedThing Boudhina Yedes Khiari syndrome Familial syndrome combining short stature, microcephaly, mental deficiency, seizures, hearing loss, and skin lesions tmpaxzxjjyw_mondo_relaxed.owl MESH:C537939|GARD:0000945|UMLS:C2931668 https://rarediseases.info.nih.gov/diseases/945/boudhina-yedes-khiari-syndrome owl:Class MONDO:0015552 biolink:NamedThing acral dystrophic epidermolysis bullosa Acral dystrophic epidermolysis bullosa is a very rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering confined primarily to the hands and feet. tmpaxzxjjyw_mondo_relaxed.owl DEB, acral|DEB-ac SCTID:733638006|UMLS:CN199731|ICD10:Q81.2|Orphanet:158673|UMLS:C4518087 owl:Class MONDO:0012308 biolink:NamedThing Joubert syndrome with renal defect Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome 4|Joubert syndrome type 4|JS-R|JBTS4|Joubert syndrome with renal anomalies ICD10:Q61.5|DOID:0110999|NCIT:C74997|SCTID:716999001|OMIM:611560|OMIM:609583|Orphanet:220497|OMIM:614424|MESH:C536296|GARD:0010169|ICD10:Q04.3 https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies owl:Class GO:0000805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020230 biolink:NamedThing renal disease with cataract tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN207058|Orphanet:98646 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: kidney disease' MONDO_0005240 owl:Class UBERON:0036262 biolink:NamedThing uterine ligament tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034946 biolink:NamedThing gas excreted from digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034945 biolink:NamedThing excreted gas tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043762 biolink:NamedThing tubal pregnancy An abnormal pregnancy in which the conception is implanted in the fallopian tube. tmpaxzxjjyw_mondo_relaxed.owl Pregnancies, tubal|fallopian pregnancy|fallopian tube pregnancy|tubal pregnancy|ectopic pregnancy of fallopian tube|tubal Pregnancies|fallopian tube ectopic pregnancy NCIT:C92946|MESH:D011274|SCTID:79586000 owl:Class MONDO:0009976 biolink:NamedThing retinal degeneration and epilepsy tmpaxzxjjyw_mondo_relaxed.owl retinal degeneration and epilepsy OMIM:267740|MESH:C564847|UMLS:C1849416 owl:Class MONDO:0002232 biolink:NamedThing nasal cavity disorder A disease involving the nasal cavity. tmpaxzxjjyw_mondo_relaxed.owl disorder of nasal cavity|nasal cavity disease|disease of nasal cavity|nasal cavity disease or disorder|nasal cavity disorder|disease or disorder of nasal cavity UMLS:C0339820|DOID:2163|SCTID:232340005|NCIT:C27102 owl:Class HGNC:7800 biolink:NamedThing NFKBIL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004512 biolink:NamedThing meningeal melanomatosis A meningeal melanoma with secondary diffuse meningeal spread. (WHO) tmpaxzxjjyw_mondo_relaxed.owl meningeal melanomatosis (morphologic abnormality)|melanomatosis of meningeal cluster|leptomeningeal melanomatosis|meningeal cluster melanomatosis|meningeal melanomatosis DOID:8243|ICDO:8728/3|NCIT:C6891|UMLS:C1266114 owl:Class MONDO:0004141 biolink:NamedThing melanomatosis tmpaxzxjjyw_mondo_relaxed.owl melanomatosis NCIT:C9499|UMLS:C1334691|DOID:7206 owl:Class MONDO:0018161 biolink:NamedThing non-hereditary retinoblastoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:357034|UMLS:CN204600|ICD10:C69.2 owl:Class UBERON:0001441 biolink:NamedThing hindlimb skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007273 biolink:NamedThing pelvic appendage skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003845 biolink:NamedThing corpus callosum lipoma A rare benign adipose tissue neoplasm of the corpus callosum. tmpaxzxjjyw_mondo_relaxed.owl corpus callosum lipoma|lipoma of corpus callosum|lipoma of the corpus callosum NCIT:C5438|UMLS:C1333160|DOID:6294 owl:Class MONDO:0030069 biolink:NamedThing hyper-IgE recurrent infection syndrome 5, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl HIES5|HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE|hyper-IgE recurrent infection syndrome 5, autosomal recessive OMIM:618944 owl:Class MONDO:0021574 biolink:NamedThing oocyte maturation defect 3 tmpaxzxjjyw_mondo_relaxed.owl OOMD3|oocyte maturation defect 3 OMIM:617712|Orphanet:404466 owl:Class MONDO:0014769 biolink:NamedThing inherited oocyte maturation defect tmpaxzxjjyw_mondo_relaxed.owl OOMD|oocyte maturation defect UMLS:C4225210|OMIM:616780|UMLS:CN238505|OMIMPS:615774 owl:Class GO:0006644 biolink:NamedThing phospholipid metabolic process The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. tmpaxzxjjyw_mondo_relaxed.owl phospholipid metabolism owl:Class CHEBI:50858 biolink:NamedThing corticosteroid A natural or synthetic analogue of the hormones secreted by the adrenal gland. tmpaxzxjjyw_mondo_relaxed.owl corticoides|corticosteroids|corticosteroides owl:Class MONDO:0012529 biolink:NamedThing Diamond-Blackfan anemia 3 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS24 gene. tmpaxzxjjyw_mondo_relaxed.owl anemia Diamond-Blackfan 3|RPS24 Diamond-Blackfan anemia|Diamond-Blackfan anemia caused by mutation in RPS24|Diamond-Blackfan anemia 3|DBA3|Diamond-Blackfan Anemia type 3 OMIM:610629|Orphanet:124|GARD:0010241|MESH:C536355|UMLS:C1857719 https://rarediseases.info.nih.gov/diseases/10241/diamond-blackfan-anemia-3 owl:Class MONDO:0013698 biolink:NamedThing arthrogryposis, distal, type 1B tmpaxzxjjyw_mondo_relaxed.owl DA1B|arthrogryposis, distal, type 1B Orphanet:1146|OMIM:614335|DOID:0111598|UMLS:C3280526 owl:Class MONDO:0015240 biolink:NamedThing digitotalar dysmorphism Digitotalar dysmorphism, also known as distal arthrogryposis type 1 (DA1), is an autosomal dominant congenital anomaly characterized by contractures of the distal regions of the hands and feet with no facial involvement or any additional anomalies. It is the most common type of distal arthrogryposis. tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis multiplex congenita distal type 1|distal arthrogryposis type 1A (sub-type)|distal arthrogryposis type 1B (sub-type)|AMCD1|DA1|digitotalar dysmorphism|distal arthrogryposis type 1 ICD10:Q68.8|OMIM:616266|UMLS:CN197602|OMIM:614335|UMLS:C1852085|UMLS:C0220662|Orphanet:1146|GARD:0000787|OMIM:126050|OMIM:108120 https://rarediseases.info.nih.gov/diseases/787/distal-arthrogryposis-type-1 owl:Class MONDO:0001874 biolink:NamedThing toxic labyrinthitis A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. tmpaxzxjjyw_mondo_relaxed.owl ototoxicity SCTID:9062008|ICD9:386.34|UMLS:C0155507|DOID:14081|EFO:0006951|SCTID:3344003 owl:Class MONDO:0700009 biolink:NamedThing chromosome 2 disorder Chromosomal disorder in which chromosome 2 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0011398 biolink:NamedThing dystrophic epidermolysis bullosa pruriginosa Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus. tmpaxzxjjyw_mondo_relaxed.owl pruriginous dystrophic epidermolysis bullosa|Deb, pruriginosa|DEB, pruriginosa|DEB-Pr|dystrophic epidermolysis bullosa pruriginosa|epidermolysis bullosa pruriginosa SCTID:403810008|MESH:C563192|ICD9:757.39|Orphanet:89843|ICD10:Q81.2|OMIM:604129|UMLS:C1275114 owl:Class MONDO:0022768 biolink:NamedThing chronic polyradiculoneuritis tmpaxzxjjyw_mondo_relaxed.owl GARD:0001355 https://rarediseases.info.nih.gov/diseases/1355/chronic-polyradiculoneuritis owl:Class MONDO:0006915 biolink:NamedThing polyradiculoneuropathy Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (guillain-barre syndrome) and polyradiculoneuropathy, chronic inflammatory demyelinating. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032587|DOID:4308|SCTID:128078004|EFO:1001116|MESH:D011129 owl:Class HGNC:4539 biolink:NamedThing GPR88 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016080 biolink:NamedThing congenital bronchobiliary fistula Congenital respiratory-biliary fistula (RBF) is a rare developmental defect characterized by an anomalous connection of trachea or bronchus with left hepatic duct presenting with respiratory distress, recurrent respiratory infections and biliary expectoration or vomitus. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:2040|SCTID:719452004|GARD:0001475|ICD10:Q32.4 https://rarediseases.info.nih.gov/diseases/1475/congenital-bronchobiliary-fistula owl:Class MONDO:0009923 biolink:NamedThing 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency A rare disorder of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis. tmpaxzxjjyw_mondo_relaxed.owl 46,XY DSD due to 5-alpha-reductase 2 deficiency|Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency|steroid 5-alpha-reductase deficiency|PPSH|Male pseudohermaphroditism due to 5-Alpha-reductase deficiency|familial incomplete Male pseudohermaphroditism, type 2|5-alpha reductase deficiency|5 Alpha steroid reductase 2 deficiency|3-oxo-5 Alpha-steroid Delta 4-dehydrogenase deficiency|pseudovaginal perineoscrotal hypospadias|micropenis|46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency ICD10:Q56.1|GARD:0005680|SCTID:57514000|MedDRA:10000029|Orphanet:753|OMIM:264600|MESH:C535830|NCIT:C98699 owl:Class MONDO:0019878 biolink:NamedThing 3q26 microduplication syndrome 3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. tmpaxzxjjyw_mondo_relaxed.owl dup(3)(q26)|trisomy 3q26|Cornelia de Lange-like syndrome|dup(3q) syndrome Orphanet:96095|UMLS:CN206814|ICD10:Q92.3 owl:Class GO:0019184 biolink:NamedThing nonribosomal peptide biosynthetic process The biosynthetic process in which peptide bond formation occurs in the absence of the translational machinery. Examples include the synthesis of antibiotic peptides, and glutathione. tmpaxzxjjyw_mondo_relaxed.owl non-ribosomal peptide biosynthesis|non-ribosomal peptide synthesis|non-ribosomal peptide formation|non-ribosomal peptide biosynthetic process|nonribosomal peptide synthesis|nonribosomal peptide synthetase|nonribosomal peptide biosynthesis|nonribosomal peptide formation|nonribosomal peptide anabolism owl:Class MONDO:0019406 biolink:NamedThing craniofacial conodysplasia Craniofacial conodysplasia is characterised by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:85168|ICD10:Q87.5 owl:Class UBERON:0010091 biolink:NamedThing future hindbrain meninx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006036 biolink:NamedThing granulosa cell tumor A slow-growing, malignant tumor, characterize by the presence of granulosa-like cells and Call-Exner bodies, that is almost always found in the ovary. In rare cases, it has also been found in the testicle. There are two types of granulosa cell tumor that can be distinguished under the microscope: the adult and the juvenile. The testicular juvenile granulosa cell tumors are perhaps the most common congenital testicular neoplasms. tmpaxzxjjyw_mondo_relaxed.owl GRCT|neoplasm of granulosa cell|granulosa cell neoplasm|granulosa cell tumor, adult type|granulosa cell tumour, sarcomatoid|granulosa cell tumor|granulosa cell tumor, adult type (morphologic abnormality)|tumor of granulosa cell|granulosa cell neoplasm (disease)|granulosa cell tumor, undetermined NCIT:C3070|MESH:D006106|UMLS:C0018206|EFO:1000032|DOID:2999|ONCOTREE:GRCT owl:Class MONDO:0019656 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93220|ICD10:N04.8|UMLS:CN206529 owl:Class MONDO:0006836 biolink:NamedThing Listeria meningitis Inflammation of the meninges caused by listeria monocytogenes infection, usually occurring in individuals under the age of 3 years or over the age of 50 years. It may occur at any age in individuals with immunologic deficiency syndromes. Clinical manifestations include fever, altered mentation, headache, meningeal signs, focal neurologic signs, and seizures. (From Medicine 1998 Sep;77(5):313-36) tmpaxzxjjyw_mondo_relaxed.owl Meningoencephalitides, Listeria|Listeria Cerebritides|Listeria monocytogenes meningitis|Meningitides, Listeria monocytogenes|meningitis, Listeria monocytogenes|Listeria meningitis|Listeria monocytogenes Meningitides|Listeria monocytogenes caused infectious meningitis|cerebritis, Listeria|Listeria cerebritis|Listeria meningoencephalitis|meningoencephalitis, Listeria|Listeria Meningitides|Listeria Meningoencephalitides|Listeria monocytogenes infectious meningitis|Cerebritides, Listeria|Meningitides, Listeria ICD9:320.7|EFO:1001021|MESH:D008584|DOID:11572|UMLS:C0025293|SCTID:31568009 owl:Class MONDO:0020669 biolink:NamedThing paranasal sinus cancer A primary or metastatic malignant neoplasm involving the paranasal sinuses. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the accessory sinus|malignant paranasal sinus tumor|malignant tumor of accessory sinus|malignant neoplasm of the paranasal sinus|malignant tumor of paranasal sinus|malignant paranasal sinus neoplasm|malignant tumor of the paranasal sinus|malignant neoplasm of accessory sinus|malignant accessory sinus tumor|malignant neoplasm of paranasal sinus|malignant accessory sinus neoplasm|malignant tumor of the accessory sinus NCIT:C7487 owl:Class MONDO:0004315 biolink:NamedThing cholangiolocellular carcinoma An intrahepatic cholangiocarcinoma that arises from the canals of Hering. tmpaxzxjjyw_mondo_relaxed.owl cholangiolocellular carcinoma|intralobular bile duct cholangiocarcinoma|cholangiocarcinoma of intralobular bile duct|CLC DOID:7642|UMLS:C1516490|NCIT:C41617 owl:Class UBERON:0008424 biolink:NamedThing inguinal mammary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044624 biolink:NamedThing pediatric collagenous gastritis tmpaxzxjjyw_mondo_relaxed.owl childhood-onset collagenous gastritis Orphanet:487809 owl:Class HGNC:20856 biolink:NamedThing THAP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006460 biolink:NamedThing thyroglossal duct cyst A congenital benign cyst arising from the remnants of the thyroglossal duct. It is usually located in the midline of the neck. tmpaxzxjjyw_mondo_relaxed.owl thyroglossal tract cyst ICD9:759.2|EFO:1000585|MESH:D013955|Orphanet:489|NCIT:C85189|SCTID:39462005 owl:Class MONDO:0001295 biolink:NamedThing idiopathic peripheral autonomic neuropathy tmpaxzxjjyw_mondo_relaxed.owl ICD9:337.0|ICD9:337.00|UMLS:C0154690|SCTID:86489003|ICD10:G90.09|ICD10:G90.0|DOID:11488 owl:Class HP:0000069 biolink:NamedThing Abnormality of the ureter An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. tmpaxzxjjyw_mondo_relaxed.owl Ureter issue|Abnormality of the ureters|Ureteral anomalies UMLS:C1840382 HP:0006001 human_phenotype owl:Class HP:0010935 biolink:NamedThing Abnormality of the upper urinary tract An abnormality of the upper urinary tract. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the upper urinary tract UMLS:C4023641 The upper urinary tract is a subdivision of urinary system which consists of the kidney and the ureters. peter 2011-01-16T11:37:29Z human_phenotype owl:Class MONDO:0019681 biolink:NamedThing juvenile sialidosis type 2 tmpaxzxjjyw_mondo_relaxed.owl dysmorphic sialidosis, juvenile form UMLS:C0268229|UMLS:CN206605|SCTID:111383007|ICD10:E77.1|Orphanet:93399 owl:Class MONDO:0006629 biolink:NamedThing osteoarthritis, hip Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion. tmpaxzxjjyw_mondo_relaxed.owl hip osteoarthritis EFO:1000786|MESH:D015207|UMLS:C0029410|NCIT:C34876 owl:Class MONDO:0009101 biolink:NamedThing Wolfram syndrome 1 Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene. tmpaxzxjjyw_mondo_relaxed.owl WOLFRAM syndrome 1|WFS1|WFS1 Wolfram syndrome|Wolfram syndrome caused by mutation in WFS1|Wolfram syndrome type 1|diabetes insipidus and mellitus with optic atrophy and deafness|Wfs|Wolfram syndrome 1 UMLS:C0043207|ICD10:E13.8|DOID:0110629|OMIM:222300|Orphanet:3463 owl:Class MONDO:0014602 biolink:NamedThing intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of PPP2R5D on chromosome 6p21.1. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal dominant 35|intellectual disability, autosomal dominant 35|mental retardation, autosomal dominant type 35|MRD35|autosomal dominant non-syndromic intellectual disability 35|autosomal dominant intellectual disability 35|autosomal dominant mental retardation 35|intellectual disability, autosomal dominant type 35 UMLS:C4225354|Orphanet:457279|DOID:0070065|OMIM:616355 owl:Class GO:0007135 biolink:NamedThing meiosis II The second nuclear division of meiosis, in which the two chromatids in each chromosome are separated, resulting in four daughter nuclei from the two nuclei produced in meiosis II. tmpaxzxjjyw_mondo_relaxed.owl meiosis II nuclear division owl:Class GO:0090368 biolink:NamedThing regulation of ornithine metabolic process Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways involving ornithine, an amino acid only rarely found in proteins, but which is important in living organisms as an intermediate in the reactions of the urea cycle and in arginine biosynthesis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:43351 biolink:NamedThing Dientamoeba tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:740973 biolink:NamedThing Dientamoebidae tmpaxzxjjyw_mondo_relaxed.owl Protrichomonadinae GC_ID:1 NCBITaxon:135586 ncbi_taxonomy owl:Class MONDO:0003653 biolink:NamedThing stork bite tmpaxzxjjyw_mondo_relaxed.owl Unna's nevus|Salmon patch nevus SCTID:254211001|DOID:5806 owl:Class MONDO:0014391 biolink:NamedThing severe combined immunodeficiency due to CTPS1 deficiency Severe combined immunodeficiency (SCID) due to CTPS1 deficiency is a rare primary immunodeficiency disorder due to impaired capacity of activated T- and B-cells to proliferate in response to antigen receptor-mediated activation characterized by early-onset, severe, persistent and/or recurrent viral infections due to Epstein-Barr virus (EBV) and Varicella Zoster virus (VZV), (including generalized varicella), as well as recurrent sino-pulmonary bacterial infections due to encapsulated pathogens. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 24|SCID due to CTPS1 deficiency|IMD24|immunodeficiency type 24 OMIM:615897|Orphanet:420573|ICD10:D81.2|UMLS:C4014617|SCTID:763623001 owl:Class MONDO:0009559 biolink:NamedThing mandibulofacial dysostosis with mental deficiency tmpaxzxjjyw_mondo_relaxed.owl mandibulofacial dysostosis with mental retardation|mandibulofacial dysostosis with mental deficiency|mandibulofacial dysostosis with intellectual disability OMIM:248400|UMLS:C1855432|MESH:C565420 owl:Class MONDO:0029130 biolink:NamedThing polydactyly, postaxial, type A8 tmpaxzxjjyw_mondo_relaxed.owl polydactyly, postaxial, type A8|PAPA8 OMIM:618123 owl:Class GO:0006414 biolink:NamedThing translational elongation The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. tmpaxzxjjyw_mondo_relaxed.owl protein synthesis elongation|translation elongation owl:Class GO:0061307 biolink:NamedThing cardiac neural crest cell differentiation involved in heart development The process in which a relatively unspecialized cell acquires specialized features of a cardiac neural crest cell that will migrate to the heart and contribute to its development. Cardiac neural crest cells are specialized cells that migrate toward the heart from the third, fourth and sixth pharyngeal arches. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060259 biolink:NamedThing regulation of feeding behavior Any process that modulates the rate, frequency or extent of the behavior associated with the intake of food. tmpaxzxjjyw_mondo_relaxed.owl regulation of feeding behaviour owl:Class MONDO:0008654 biolink:NamedThing nystagmus 4, congenital, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl NYS4|vestibulocerebellar disorder with predominant ocular signs|NYSTAGMUS 4, congenital, autosomal dominant GARD:0009603|MESH:C537856|OMIM:193003 owl:Class CL:1001608 biolink:NamedThing foreskin fibroblast Fibroblast from foreskin. tmpaxzxjjyw_mondo_relaxed.owl BJ fibroblast CALOHA:TS-0384 owl:Class UBERON:0010728 biolink:NamedThing sphenoid lesser wing pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016853 biolink:NamedThing interdigital gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016852 biolink:NamedThing skin scent gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010648 biolink:NamedThing major affective disorder 2 tmpaxzxjjyw_mondo_relaxed.owl MAFD2|manic-depressive psychosis, X-linked|bipolar affective disorder|MAJOR affective disorder 2|major affective disorder 2|manic-depressive illness DOID:0080221|OMIM:309200|MESH:C564108 owl:Class MONDO:0000693 biolink:NamedThing bipolar II disorder A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. tmpaxzxjjyw_mondo_relaxed.owl bipolar II disorder|bipolar 2 disorder|bipolar ll disorder DOID:0060166|ICD9:296.89|SCTID:83225003 owl:Class CHEBI:38196 biolink:NamedThing hydroxymethylpyridine Any member of the class of pyridines carrying a hydroxymethyl substituent at unspecified position. tmpaxzxjjyw_mondo_relaxed.owl hydroxymethylpyridines owl:Class NCBITaxon:2732416 biolink:NamedThing Cressdnaviricota tmpaxzxjjyw_mondo_relaxed.owl eukaryotic Rep-encoding ssDNA viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007440 biolink:NamedThing major affective disorder 1 tmpaxzxjjyw_mondo_relaxed.owl MAJOR affective disorder 1|manic-depressive psychosis|bipolar affective disorder|MAFD1|manic-depressive psychosis, autosomal|major affective disorder 1 OMIM:125480|DOID:0080220 owl:Class MONDO:0004985 biolink:NamedThing bipolar disorder A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression. tmpaxzxjjyw_mondo_relaxed.owl bipolar depression|manic-depressive illness|depressive-manic psych.|manic-depressive psychosis|bipolar affective disorder|manic bipolar affective disorder|bipolar disorder manic phase|mixed bipolar disorder|manic-depression|manic depression|major bipolar affective disorder|bipolar disorder|manic bipolar I disorder|manic depressive disorder|MAFD|manic disorder|major affective disorder OMIM:612371|UMLS:C0005586|SCTID:191627008|ICD9:296.80|SCTID:13746004|NCIT:C34423|ICD9:296.89|NCIT:C34424|MESH:D001714|NCIT:C34805|ICD9:296.60|EFO:0000289|ICD10:F31|ICD10:F31.9|OMIM:612357|NIFSTD:birnlex_12754|ICD9:296.40|DOID:3312 owl:Class MONDO:0060582 biolink:NamedThing auditory neuropathy-optic atrophy syndrome tmpaxzxjjyw_mondo_relaxed.owl ANOA|auditory neuropathy and optic atrophy Orphanet:542585|UMLS:C4521678|OMIM:617717 owl:Class MONDO:0021651 biolink:NamedThing synpolydactyly A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits). tmpaxzxjjyw_mondo_relaxed.owl synpolydactyly|polysyndactyly SCTID:84598000|NCIT:C75003|MESH:C538153|UMLS:C0265553 owl:Class ENVO:01001164 biolink:NamedThing geodiversity A quality which inheres in a astronomical body or astronomical body part by virtue of the variation in its material composition, participation in geological processes, and the variation in is land- and hydroforms. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044067 biolink:NamedThing candidiasis, invasive A fungal infection by any of the Candida species in a sterile body compartment. tmpaxzxjjyw_mondo_relaxed.owl candidiases, invasive|invasive candidiases|invasive candidiasis MESH:D058365|NCIT:C116813|EFO:1001282 owl:Class MONDO:0005576 biolink:NamedThing cryoglobulinemia Cryoglobulinemia is a type of vasculitis that is caused by abnormal proteins (antibodies) in the blood called 'cryoglobulins.' At cold temperatures, these proteins become solid or gel-like, which can block blood vessels and cause a variety of health problems. Many people affected by this condition will not experience any unusual signs or symptoms. When present, symptoms vary but may include breathing problems; fatigue; glomerulonephritis ; joint or muscle pain; purpura ; Raynaud's phenomenon ; skin death; and/or skin ulcers. In some cases, the exact underlying cause is unknown; however, cryoglobulinemia can be associated with a variety of conditions including certain types of infection; chronic inflammatory diseases (such as autoimmune disease); and/or cancers of the blood or immune system. Treatment varies based on the severity of the condition, the symptoms present in each person and the underlying cause. tmpaxzxjjyw_mondo_relaxed.owl Cryoimmunoglobulinaemia|cryoglobulinemia SCTID:30911005|UMLS:C0010403|NCIT:C26736|GARD:0006217|EFO:0005846|ICD9:273.2|DOID:2917|ICD10:D89.1|MESH:D003449 https://rarediseases.info.nih.gov/diseases/6217/cryoglobulinemia owl:Class MONDO:0024459 biolink:NamedThing Aeromonas hydrophila intestinal disease tmpaxzxjjyw_mondo_relaxed.owl intestinal infection due to Aeromonas hydrophila|intestinal infection caused by Aeromonas hydrophila UMLS:C2960005|ICD9:008.47|SCTID:446988001 owl:Class MONDO:0004303 biolink:NamedThing parathyroid gland clear cell adenoma A parathyroid gland adenoma composed predominantly of neoplastic cells with clear cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl transitional clear cell adenoma of parathyroid gland|parathyroid gland transitional clear cell adenoma|clear cell adenoma of parathyroid|parathyroid transitional clear cell adenoma|parathyroid clear cell adenoma|clear cell adenoma of parathyroid gland|clear cell adenoma of the parathyroid|clear cell adenoma of the parathyroid gland|transitional clear cell adenoma of the parathyroid gland|transitional clear cell adenoma of the parathyroid|transitional clear cell adenoma of parathyroid|parathyroid gland clear cell adenoma DOID:7609|NCIT:C7993|UMLS:C0279700 owl:Class MONDO:0054837 biolink:NamedThing intellectual disability, autosomal dominant 57 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal dominant 57|MRD57|mental retardation, autosomal dominant 57 OMIM:618050|UMLS:CN252334 owl:Class MONDO:0016102 biolink:NamedThing subacute inflammatory demyelinating polyneuropathy A subacute progressive symmetric sensorial and/or motor disorder characterized by muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins. SIDP is an intermediate form between Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP). tmpaxzxjjyw_mondo_relaxed.owl subacute inflammatory demyelinating polyradiculoneuropathy|SIDP UMLS:C0456517|SCTID:277189006|ICD10:G61.8|Orphanet:206594 owl:Class MONDO:0013938 biolink:NamedThing peroxisome biogenesis disorder 7A (Zellweger) tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group 8|peroxisome biogenesis disorder, complementation group A|PBD7A|peroxisome biogenesis disorder 7A (Zellweger) DOID:0080482|OMIM:614872|UMLS:C3888385 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0008823 biolink:NamedThing neural tube derived brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016974 biolink:NamedThing thymoma type B An epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It includes thymoma type B1 which is a thymoma of low grade malignant potential, thymoma type B2 which is a thymoma of moderate malignancy, and thymoma type B3 which is also known as well differentiated thymic carcinoma. tmpaxzxjjyw_mondo_relaxed.owl dendritic cell thymoma|primary thymic epithelial neoplasm type B|primary thymic epithelial tumor type B|plump cell thymoma|Dendritic cell thymoma|thymoma type B|dendritic cell thymoma (disease)|epithelioid thymoma ICD10:C37|UMLS:C1328042|UMLS:CN202276|ICD10:D15.0|NCIT:C7114|DOID:3282|Orphanet:263317 owl:Class MONDO:0009439 biolink:NamedThing autosomal recessive congenital ichthyosis 2 An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin. tmpaxzxjjyw_mondo_relaxed.owl nonbullous congenital ichthyosiform erythroderma 1|autosomal recessive congenital ichthyosis type 2|ichthyosis, congenital, autosomal recessive 2|ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly|ichthyosiform erythroderma, nonbullous congenital, 1, formerly|NCIE|collodion baby, self-healing|NBCIE|NCIE1|ichthyosiform erythroderma, nonbullous congenital, 1|ichthyosiform erythroderma, Brocq congenital, nonbullous form|ARCI2|ichthyosis, congenital, autosomal recessive type 2|ichthyosiform erythroderma, congenital, nonbullous, 1|Brocq congenital ichthyosiform erythroderma nonbullous form GARD:0009736|UMLS:C1855789|ICD10:Q80.2|DOID:0060710|OMIM:242100|NCIT:C132827|Orphanet:281122|Orphanet:79394 owl:Class MONDO:0019682 biolink:NamedThing congenital sialidosis type 2 tmpaxzxjjyw_mondo_relaxed.owl ICD10:E77.1|Orphanet:93400 owl:Class MONDO:0009374 biolink:NamedThing hydroxyprolinemia tmpaxzxjjyw_mondo_relaxed.owl HYDROXYPROLINEMIA|hydroxyprolinemia|4 alpha hydroxy-L-proline oxidase deficiency|hydroxyprolinemia (disease)|Hydroxyprolinemia|4-hydroxy-L-proline oxidase deficiency hydroxyprolinemia (disease) ICD9:270.8|UMLS:C0268531|MESH:C562669|GARD:0010717|SCTID:25739007|HP:0003260|OMIM:237000 owl:Class GO:1990351 biolink:NamedThing transporter complex A protein complex facilitating transport of molecules (proteins, small molecules, nucleic acids) into, out of or within a cell, or between cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4979 biolink:NamedThing MNX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014210 biolink:NamedThing intellectual disability-hypotonia-spasticity-sleep disorder syndrome tmpaxzxjjyw_mondo_relaxed.owl MRT37|intellectual disability, autosomal recessive 37|intellectual disability, autosomal recessive type 37|mental retardation, autosomal recessive 37|mental retardation, autosomal recessive type 37 OMIM:615493|UMLS:C3809672|ICD10:G93.8|Orphanet:356996 owl:Class MONDO:0004431 biolink:NamedThing hemarthrosis Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia. tmpaxzxjjyw_mondo_relaxed.owl hemarthrosis of the ankle and/or foot|hemarthrosis involving ankle and foot|hemarthrosis of forearm|hemarthrosis of the hand|hemarthrosis of ankle and/or foot|hemarthrosis involving upper arm|hemarthrosis of shoulder|haemarthrosis of the pelvic region and thigh|hemarthrosis involving lower leg|hemarthrosis of lower leg|hemarthrosis of the forearm|hemarthrosis involving forearm|hemarthrosis of the lower leg|haemarthrosis of shoulder joint|hemarthrosis of upper arm|hemarthrosis of the pelvic region and thigh|hemarthrosis involving pelvic region and thigh|hemarthrosis involving hand|hemarthrosis of shoulder region|hemarthrosis of the ankle and foot|hemarthrosis of hand|haemarthrosis of the ankle and foot|hemarthrosis involving shoulder region|hemarthrosis of the upper arm|hemarthrosis of the shoulder region EFO:1001344|ICD9:719.1|DOID:801|MESH:D006395|ICD9:719.18|SCTID:81808003|UMLS:C0158159|ICD10:M25.0|ICD9:719.10 owl:Class MONDO:0012719 biolink:NamedThing encephalopathy due to prosaposin deficiency Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses. tmpaxzxjjyw_mondo_relaxed.owl PSAPD|prosaposin deficiency|combined SAP deficiency|combined saposin deficiency|combined Sap deficiency|combined prosaposin deficiency Orphanet:139406|ICD10:E75.2|MESH:C567125|DOID:0111330|OMIM:611721|GARD:0012505|UMLS:C2673635|SCTID:720864008|UMLS:C4303785 https://rarediseases.info.nih.gov/diseases/12505/encephalopathy-due-to-prosaposin-deficiency owl:Class MONDO:0001735 biolink:NamedThing paranasal sinus disorder A disease involving the paranasal sinus. tmpaxzxjjyw_mondo_relaxed.owl disease of paranasal sinus|sinus disorder|disorder of paranasal sinus|disease or disorder of paranasal sinus|paranasal sinus disease|paranasal sinus disease or disorder|disorder of nasal sinus|paranasal sinus disorder SCTID:7393007|UMLS:C0030469|NCIT:C26843|ICD9:478.1|DOID:1352|MESH:D010254 owl:Class MONDO:0014912 biolink:NamedThing infantile-onset periodic fever-panniculitis-dermatosis syndrome tmpaxzxjjyw_mondo_relaxed.owl otulin-related autoinflammatory syndrome|autoinflammation, panniculitis and dermatosis syndrome|otulipenia|AUTOINFLAMMATION, panniculitis, and dermatosis syndrome|otulin deficiency|AIPDS|Autoinflammation, panniculitis, and dermatosis syndrome|ORAS UMLS:C4310614|GARD:0013198|DOID:0080163|Orphanet:500062|OMIM:617099|SCTID:765435009 https://rarediseases.info.nih.gov/diseases/13198/otulipenia owl:Class MONDO:0032597 biolink:NamedThing myasthenic syndrome, congenital, 24, presynaptic tmpaxzxjjyw_mondo_relaxed.owl MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC|CMS24 OMIM:618198 owl:Class GO:0002827 biolink:NamedThing positive regulation of T-helper 1 type immune response Any process that activates or increases the frequency, rate, or extent of a T-helper 1 type immune response. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of T-helper 1 type immune response|up regulation of T-helper 1 type immune response|upregulation of T-helper 1 type immune response|activation of T-helper 1 type immune response|stimulation of T-helper 1 type immune response owl:Class GO:0002825 biolink:NamedThing regulation of T-helper 1 type immune response Any process that modulates the frequency, rate, or extent of a T-helper 1 type immune response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012966 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 4 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene. tmpaxzxjjyw_mondo_relaxed.owl nephropathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in IL1RN|microvascular complications of diabetes, susceptibility to, 4|IL1RN microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, type 4|MVCD4 OMIM:612628 owl:Class MONDO:0007581 biolink:NamedThing exchondrosis of pinna, posterior tmpaxzxjjyw_mondo_relaxed.owl exchondrosis of pinna, posterior|Ear bump OMIM:133500|MESH:C565036|UMLS:C1851463 owl:Class MONDO:0010337 biolink:NamedThing X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities. tmpaxzxjjyw_mondo_relaxed.owl mental retardation x-linked with cerebellar hypoplasia and distinctive facial appearance|mental retardation, X-linked 60|intellectual disability x-linked with cerebellar hypoplasia and distinctive facial appearance|X-linked intellectual disability-cerebellar hypoplasia syndrome|MRX60 (formerly)|OPHN1- related XLID|OPHN1 XLMR, X-linked intellectual disability|OPHN1 XLMR|intellectual disability, X-linked 60, formerly|mental retardation, X-linked 60, formerly|OPHN1 syndrome|mental retardation x-linked 60 (formerly)|intellectual disability, X-linked 60|intellectual disability x-linked 60 (formerly)|mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance|X-linked intellectual Deficit with cerebellar Hypoplasia|Oligophrenin-1 syndrome|OPHN1 deficiency|intellectual disability, X-linked, with cerebellar hypoplasia and distinctive facial appearance MESH:C537456|DOID:0080311|OMIM:300486|GARD:0013093|Orphanet:137831|ICD10:Q04.3|SCTID:719136005|GARD:0009947 https://rarediseases.info.nih.gov/diseases/9947/mental-retardation-x-linked-with-cerebellar-hypoplasia-and-distinctive-facial-appearance owl:Class UBERON:4300226 biolink:NamedThing forelimb bud mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003413 biolink:NamedThing pectoral appendage bud mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004198 biolink:NamedThing comma-shaped body tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005887 biolink:NamedThing oral tuberculosis Tuberculosis of the mouth, tongue, and salivary glands. tmpaxzxjjyw_mondo_relaxed.owl DOID:402|ICD9:528.9|MESH:D014393|EFO:0007407|UMLS:C0041323|SCTID:235067001|ICD9:017.90 owl:Class UBERON:0003488 biolink:NamedThing abdominal mammary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012054 biolink:NamedThing schizophrenia 12 A schizophrenia that has material basis in a mutation on chromosome 1p36.2. tmpaxzxjjyw_mondo_relaxed.owl Sczd12|schizophrenia 12|schizophrenia type 12|SCZD12|schizophrenia susceptibility locus, chromosome 1P-related OMIM:608543|UMLS:C1837893|DOID:0070088 owl:Class MONDO:0014624 biolink:NamedThing Brown syndrome Brown syndrome is a rare eye disorder characterized by defects in eye movements caused by abnormalities of the superior oblique tendon sheath of the superior oblique muscle. tmpaxzxjjyw_mondo_relaxed.owl Brown syndrome|superior oblique tendon sheath syndrome|Brown's sheath syndrome|Brown's (tendon) sheath syndrome|tendon sheath adherence, Superior oblique|Brown's tendon sheath syndrome|BRWNS|Brown tendon sheath syndrome DOID:10235|GARD:0005963|SCTID:35929003|OMIM:616407|ICD9:378.61|ICD10:H50.61|UMLS:C0155339 owl:Class MONDO:0004753 biolink:NamedThing mechanical strabismus tmpaxzxjjyw_mondo_relaxed.owl ICD9:378.6|ICD10:H50.6|SCTID:5371001|DOID:9306|ICD10:H50.60|ICD9:378.60|UMLS:C0152223 May be ceded to HPO owl:Class MONDO:0015488 biolink:NamedThing predominantly large-vessel vasculitis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156140 owl:Class MONDO:0024673 biolink:NamedThing skin lymphangioma A lymphangioma arising from the skin. tmpaxzxjjyw_mondo_relaxed.owl skin lymphangioma|cutaneous lymphangioma NCIT:C27509|UMLS:C1333176 owl:Class MONDO:0004397 biolink:NamedThing benign mediastinal psammomatous neurilemmoma A schwannoma that arises from the posterior mediastinum. It is characterized by the presence of psammoma bodies. tmpaxzxjjyw_mondo_relaxed.owl benign psammomatous neurilemmoma of the mediastinum|benign mediastinal psammomatous schwannoma|benign psammomatous schwannoma of the mediastinum|benign psammomatous neurilemmoma of mediastinum|benign psammomatous schwannoma of mediastinum UMLS:C1332513|DOID:7921|NCIT:C6636 owl:Class UBERON:0011342 biolink:NamedThing surface of mandible tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002333 biolink:NamedThing splenic abscess An abscess that is located in the spleen. tmpaxzxjjyw_mondo_relaxed.owl splenic abscess (disease)|splenic abscess splenic abscess (disease) HP:0025059|ICD10:D73.3|UMLS:C0272412|ICD9:289.59|SCTID:82053000|DOID:2530|NCIT:C35347 owl:Class GO:0031326 biolink:NamedThing regulation of cellular biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular anabolism|regulation of cellular formation|regulation of cellular synthesis|regulation of cellular biosynthesis owl:Class UBERON:0002213 biolink:NamedThing cartilaginous joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009022 biolink:NamedThing right uterine horn tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002247 biolink:NamedThing uterine horn tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014981 biolink:NamedThing immunodeficiency 49 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene. tmpaxzxjjyw_mondo_relaxed.owl BCL11B primary immunodeficiency disease|immunodeficiency 49; IMD49|IMD49|severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities|primary immunodeficiency disease caused by mutation in BCL11B|immunodeficiency 49|immunodeficiency type 49|SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities OMIM:617237|UMLS:C4310656 owl:Class MONDO:0003660 biolink:NamedThing adult lymphoma A lymphoma that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of adults|adult lymphoma|lymphoma UMLS:C1332206|NCIT:C7587|DOID:5825 owl:Class CL:0009035 biolink:NamedThing stromal cell of lamina propria of vermiform appendix A stromal cell found in the lamina propria of the vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl stromal cell of appendix lamina propria|stromal cell of lamina propria of appendix vermiformis owl:Class MONDO:0001088 biolink:NamedThing acute inferoposterior infarction tmpaxzxjjyw_mondo_relaxed.owl acute inferoposterior myocardial infarction|acute myocardial infarction of inferoposterior wall|acute inferoposterior infarction UMLS:C0340304|ICD9:410.30|ICD9:410.32|ICD9:410.31|SCTID:76593002|DOID:10648 Editor note: TODO: positional superclass owl:Class MONDO:0011301 biolink:NamedThing pseudohypoparathyroidism type 1B Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. tmpaxzxjjyw_mondo_relaxed.owl pseudohypoparathyroidism, type 1B|PHP1B|Php 1B|pseudohypoparathyroidism, type IB|pseudohypoparathyroidism type IB ICD10:E20.1|MESH:C548075|UMLS:C2932715|DOID:0080222|GARD:0010680|Orphanet:94089|OMIM:603233 https://rarediseases.info.nih.gov/diseases/10680/pseudohypoparathyroidism-type-1b owl:Class CL:0000723 biolink:NamedThing somatic stem cell A stem cell that can give rise to cell types of the body other than those of the germ-line. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-2086|FMA:63368 cell owl:Class MONDO:0015703 biolink:NamedThing T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta tmpaxzxjjyw_mondo_relaxed.owl T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta Orphanet:169160|OMIM:615615|ICD10:D81.2|OMIM:615617|OMIM:610163 owl:Class MONDO:0021133 biolink:NamedThing acquired factor XIII deficiency An acquired coagulation disorder due to reduced levels and activity of factor XIII. tmpaxzxjjyw_mondo_relaxed.owl acquired factor XIII deficiency NCIT:C131629|UMLS:C0238120 owl:Class MONDO:0002241 biolink:NamedThing factor XIII deficiency An acquired or inherited coagulation disorder due to reduced levels and activity of factor XIII. tmpaxzxjjyw_mondo_relaxed.owl FXIIID owl:Class MONDO:0020766 biolink:NamedThing neuropathy, congenital hypomyelinating, 3 tmpaxzxjjyw_mondo_relaxed.owl NEUROPATHY, CONGENITAL HYPOMYELINATING, 3|CHN3 OMIM:618186 owl:Class MONDO:0033352 biolink:NamedThing neuropathy, congenital hypomelinating tmpaxzxjjyw_mondo_relaxed.owl CHN OMIMPS:605253 owl:Class UBERON:0010305 biolink:NamedThing subdivision of conjunctiva tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9588 biolink:NamedThing PTEN tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11408 biolink:NamedThing STK4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016871 biolink:NamedThing partial deletion of chromosome 6 tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome type 6|partial monosomy of chromosome 6 Orphanet:261791|ICD10:Q93.5 owl:Class GO:0048584 biolink:NamedThing positive regulation of response to stimulus Any process that activates, maintains or increases the rate of a response to a stimulus. Response to stimulus is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of response to stimulus|upregulation of response to stimulus|activation of response to stimulus|up regulation of response to stimulus|stimulation of response to stimulus owl:Class MONDO:0005288 biolink:NamedThing intestinal polyp Discrete abnormal tissue masses that protrude into the lumen of the intestine. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base. tmpaxzxjjyw_mondo_relaxed.owl intestinal polyp (disease)|intestinal polyp intestinal polyp (disease) SCTID:254588001|EFO:0003855|HP:0005266|MESH:D007417|ICD9:569.89 owl:Class MONDO:0020646 biolink:NamedThing ocular adnexal lymphoma A non-Hodgkin lymphoma arising from the conjunctiva, lacrimal gland, lacrimal drainage apparatus, eyelids, or other orbital tissues around the eye. The vast majority of cases are extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue, however, other histologic types of lymphomas can originate from ocular adnexal tissues, including rare cases of NK/T-cell lymphomas of nasal type. tmpaxzxjjyw_mondo_relaxed.owl ocular adnexal lymphoma|OAL|ocular adnexa non-Hodgkin lymphoma|non-Hodgkin lymphoma of ocular adnexa NCIT:C88145|UMLS:C2981712 owl:Class MONDO:0011266 biolink:NamedThing myotonic dystrophy type 2 Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders. tmpaxzxjjyw_mondo_relaxed.owl ricker syndrome|CNBP myotonic dystrophy|ricker disease|proximal myotonic myopathy|myotonic dystrophy 2|myotonic myopathy, proximal|dystrophia myotonica 2|dystrophia myotonica type 2|DM2|proximal myotonic dystrophy|PROMM|myotonic dystrophy caused by mutation in CNBP|myotonic dystrophy type 2 NCIT:C84680|ICD10:G71.19|GARD:0009728|OMIM:602668|ICD10:G71.1|DOID:0050759|Orphanet:606|ICD9:359.2 https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2 owl:Class PCO:0000029 biolink:NamedThing multi-species collection of organisms A collection of organisms that consists of two or more organisms from at least two species. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PCO:0000000 biolink:NamedThing collection of organisms A material entity that consists of two or more organisms, viruses, or viroids. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016482 biolink:NamedThing silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 tmpaxzxjjyw_mondo_relaxed.owl UPD(11)mat|Silver-Russell syndrome due to maternal uniparental disomy of chromosome type 11 ICD10:Q87.1|Orphanet:231147|UMLS:CN201477 owl:Class CHEBI:76946 biolink:NamedThing fungal metabolite Any eukaryotic metabolite produced during a metabolic reaction in fungi, the kingdom that includes microorganisms such as the yeasts and moulds. tmpaxzxjjyw_mondo_relaxed.owl fungal metabolites owl:Class MONDO:0008612 biolink:NamedThing tuberous sclerosis 1 Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene). tmpaxzxjjyw_mondo_relaxed.owl tuberous sclerosis caused by mutation in TSC1|tuberous sclerosis 1|tuberose sclerosis|tuberous sclerosis type 1|TSC1|TSC1 tuberous sclerosis|tuberous sclerosis Complex|tuberous sclerosis, type 1 Orphanet:805|OMIM:191100|NCIT:C75122|DOID:0080324|GARD:0005380 owl:Class MONDO:0001734 biolink:NamedThing tuberous sclerosis Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade. tmpaxzxjjyw_mondo_relaxed.owl syndrome, Bourneville's|Epiloia|Bourneville's disease|Phacomatosis, Bourneville|TSC|disease, Bourneville-pringle|syndrome, Bourneville|Bourneville Phacomatosis|Bourneville pringle disease|Bourneville disease|adenoma sebaceum|cerebral Scleroses|Bourneville's syndrome|sclerosis Tuberosa|bourneville's disease|cerebral sclerosis|Bourneville pringle's disease|Bourneville phakomatosis|phakomatosis, Bourneville|ts - tuberous sclerosis|disease, Bourneville-pringle's|Bourneville-pringle disease|Bourneville-Pringles disease|sclerosis, tuberose|tuberous sclerosis|tuberous sclerosis Complex|Bourneville syndrome|tuberose sclerosis|Bourneville-pringle's disease|sclerosis, cerebral|tuberous sclerosis syndrome|sclerosis, tuberous|adenoma sebaceum syndrome ICD10:Q85.1|NCIT:C3424|OMIMPS:191100|MESH:D014402|SCTID:7199000|OMIM:613254|DOID:13515|ICD9:759.5|OMIM:191100 Editor note: TODO check MONDO:0019341; consider placement under neoplastic syndrome owl:Class MONDO:0011565 biolink:NamedThing metabolic syndrome X tmpaxzxjjyw_mondo_relaxed.owl abdominal obesity-metabolic syndrome 1|abdominal obesity metabolic syndrome|AOMS1|dysmetabolic syndrome X|metabolic syndrome type X|abdominal obesity-metabolic syndrome quantitative trait locus 1|metabolic syndrome 10|metabolic syndrome, protection against NCIT:C84442|DOID:14221|GARD:0009226|ICD9:277.7|UMLS:C0524620|MESH:D024821|ICD10:E88.81|EFO:0000195|SCTID:237602007|OMIM:605552|UMLS:C2930930 owl:Class GO:0050766 biolink:NamedThing positive regulation of phagocytosis Any process that activates or increases the frequency, rate or extent of phagocytosis. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of phagocytosis|activation of phagocytosis|up regulation of phagocytosis|stimulation of phagocytosis|upregulation of phagocytosis owl:Class GO:1903431 biolink:NamedThing positive regulation of cell maturation Any process that activates or increases the frequency, rate or extent of cell maturation. tmpaxzxjjyw_mondo_relaxed.owl up regulation of cell maturation|activation of functional differentiation|upregulation of functional differentiation|up regulation of functional differentiation|up-regulation of cell maturation|up-regulation of functional differentiation|upregulation of cell maturation|positive regulation of functional differentiation|activation of cell maturation owl:Class MONDO:0004450 biolink:NamedThing carotid artery occlusion A occlusion precerebral artery that involves the carotid artery segment. tmpaxzxjjyw_mondo_relaxed.owl occlusion and stenosis of carotid artery|occlusion precerebral artery of carotid artery segment|carotid artery segment occlusion precerebral artery SCTID:266254007|DOID:807|ICD9:433.10|UMLS:C0265101 owl:Class MONDO:0021437 biolink:NamedThing lipoma of stomach A lipoma that involves the stomach. tmpaxzxjjyw_mondo_relaxed.owl lipoma of the stomach|gastric lipoma|stomach lipoma UMLS:C1333777|SCTID:695751021000132104|NCIT:C5258 owl:Class MONDO:0020065 biolink:NamedThing combined dystonia A dystonia that is combined with another movement disorder (e.g., myoclonus, parkinsonism). tmpaxzxjjyw_mondo_relaxed.owl dystonia-plus syndrome ICD10:G24.1|Orphanet:98203|UMLS:CN206969 owl:Class MONDO:0010610 biolink:NamedThing holoprosencephaly-hypokinesia-congenital contractures syndrome An extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. An X-linked recessive inheritance has been suggested. tmpaxzxjjyw_mondo_relaxed.owl holoprosencephaly with fetal akinesia/hypokinesia sequence|Morse-Rawnsley-Sargent syndrome|holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome SCTID:716169009|GARD:0003788|OMIM:306990|MESH:C564409|ICD10:Q04.2|Orphanet:2570 owl:Class GO:0004634 biolink:NamedThing phosphopyruvate hydratase activity Catalysis of the reaction: 2-phospho-D-glycerate = phosphoenolpyruvate + H2O. tmpaxzxjjyw_mondo_relaxed.owl nervous-system specific enolase|2-phospho-D-glycerate-hydrolase activity|2-phospho-D-glycerate hydro-lyase (phosphoenolpyruvate-forming)|2-phosphoglycerate dehydratase activity|2-phosphoglyceric dehydratase activity|2-phospho-D-glycerate hydro-lyase activity|14-3-2-protein|enolase activity|phosphoenolpyruvate hydratase activity|gamma-enolase activity|2-phosphoglycerate enolase activity owl:Class GO:0016836 biolink:NamedThing hydro-lyase activity Catalysis of the cleavage of a carbon-oxygen bond by elimination of water. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015418 biolink:NamedThing lateral facial cleft tmpaxzxjjyw_mondo_relaxed.owl transverse facial cleft|Tessier number 7 facial cleft Orphanet:141269|ICD10:Q18.8 owl:Class MONDO:0004030 biolink:NamedThing ureter transitional cell carcinoma A carcinoma that arises from the transitional epithelium of the ureter. It is associated with tobacco use and usually presents with gross or microscopic hematuria. tmpaxzxjjyw_mondo_relaxed.owl urothelial cell carcinoma of ureter|ureter urothelial cancer|urothelial cell carcinoma of the ureter|transitional cell carcinoma of the ureter|transitional cell carcinoma of ureter|ureter transitional cell carcinoma|ureteral transitional cell carcinoma|ureter urothelial carcinoma|ureteral urothelial cell carcinoma UMLS:C0577692|EFO:1001973|SCTID:300988009|NCIT:C4830|DOID:6888 owl:Class MONDO:0012167 biolink:NamedThing atrial fibrillation, familial, 2 tmpaxzxjjyw_mondo_relaxed.owl atrial fibrillation, familial, 2|ATFB2 OMIM:608988|Orphanet:334|MESH:C563903|UMLS:C1837812 owl:Class HGNC:6585 biolink:NamedThing LHCGR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100330 biolink:NamedThing disease arising from reactivation of latent virus An infectious disease that arises from reactivation of a virus from a latent phase to a lytic phase. tmpaxzxjjyw_mondo_relaxed.owl latent infection http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2950|https://github.com/monarch-initiative/mondo/issues/3251 owl:Class MONDO:0014412 biolink:NamedThing hyperlipoproteinemia, type 1D Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene. tmpaxzxjjyw_mondo_relaxed.owl hyperlipoproteinemia, type ID|GPIHBP1 familial hyperlipidemia|hyperlipoproteinemia, type 1D|familial hyperlipidemia caused by mutation in GPIHBP1 OMIM:615947|Orphanet:535458|DOID:0111420|UMLS:C4014767 owl:Class MONDO:0016372 biolink:NamedThing glossopharyngeal neuralgia Glossopharyngeal neuralgia is a condition characterized by repeated episodes of severe pain in the tongue, throat, ear, and tonsils (areas connected to the ninth cranial nerve, or glossopharyngeal nerve). It typically occurs in individuals over age 40. Episodes of pain may last from a few seconds to a few minutes, and usually occur on one side. The pain may be triggered by swallowing, speaking, laughing, chewing or coughing. The condition is thought to be due to irritation of the nerve, although the source of irritation is unclear. The goal of treatment is to control pain, but over-the-counter pain medications are not very effective; the most effective drugs are anti-seizure medications. Some antidepressants help certain people. Surgery to cut or take pressure off of the glossopharyngeal nerve may be needed in severe cases. tmpaxzxjjyw_mondo_relaxed.owl Glossovasopharyngeal neuralgia|glossopharyngeal neuralgia|glossopharyngeal nerve neuralgia|neuralgia of glossopharyngeal nerve UMLS:C0154731|ICD10:G52.1|GARD:0006519|SCTID:43763009|DOID:14423|ICD9:352.1|Orphanet:221098|MedDRA:10018391 https://rarediseases.info.nih.gov/diseases/6519/glossopharyngeal-neuralgia owl:Class MONDO:0002639 biolink:NamedThing glossopharyngeal nerve disorder A disease involving the glossopharyngeal nerve. tmpaxzxjjyw_mondo_relaxed.owl glossopharyngeal nerve disorder|disease or disorder of glossopharyngeal nerve|ninth nerve disorder|disease of glossopharyngeal nerve|glossopharyngeal nerve disease|glossopharyngeal nerve disease or disorder|disorder of glossopharyngeal nerve|IX nerve disorder ICD9:352.2|ICD9:352|SCTID:80962007|ICD10:G52|DOID:3418|UMLS:C0751941|NCIT:C27211 owl:Class MONDO:0016186 biolink:NamedThing qualitative or quantitative defects of myofibrillar proteins tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209038 owl:Class MONDO:0016909 biolink:NamedThing partial monosomy of the long arm of chromosome 10 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 10q|partial monosomy of the long arm of chromosome type 10|partial deletion of chromosome 10q|partial deletion of the long arm of chromosome 10 UMLS:C0795839|Orphanet:262083|ICD10:Q93.5 owl:Class MONDO:0012508 biolink:NamedThing agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation. tmpaxzxjjyw_mondo_relaxed.owl agammaglobulinemia, microcephaly, and severe dermatitis OMIM:610483|GARD:0010011|ICD10:Q87.0|SCTID:722281001|UMLS:C1864848|Orphanet:83617|MESH:C538055 owl:Class MONDO:0009536 biolink:NamedThing chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation tmpaxzxjjyw_mondo_relaxed.owl lymphoblastic transformation, intrinsic defect IN|lymphoblastic transformation, intrinsic defect type 1N MESH:C565431|OMIM:247450|UMLS:C1855474 owl:Class GO:0022835 biolink:NamedThing transmitter-gated channel activity Enables the transmembrane transfer of a solute by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts. tmpaxzxjjyw_mondo_relaxed.owl extracellular substance gated channel activity|neurotransmitter-gated channel activity owl:Class MONDO:0015734 biolink:NamedThing rectal duplication Rectal duplication is a rare congenital anorectal malformation characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly they present in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:171220|SCTID:725910009|ICD10:Q43.4 owl:Class MONDO:0019938 biolink:NamedThing anorectal malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:96346|SCTID:33225004|MESH:C537771|ICD9:751.5 owl:Class HGNC:29501 biolink:NamedThing GPSM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001270 biolink:NamedThing stone in bladder diverticulum tmpaxzxjjyw_mondo_relaxed.owl calculus in diverticulum of bladder UMLS:C0156265|ICD9:594.0|ICD10:N21.0|DOID:11354|SCTID:18109005 owl:Class MONDO:0006678 biolink:NamedThing bladder calculus A concretion in the urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26707|UMLS:C0005683|MedDRA:10005001|SCTID:70650003|ICD9:594.1|DOID:11355|ICD10:N21.0|EFO:1000839|MESH:D001744 owl:Class HGNC:9038 biolink:NamedThing PLA2G5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0029132 biolink:NamedThing Liddle syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl Liddle syndrome 3|LIDLS3 OMIM:618126 owl:Class HGNC:14897 biolink:NamedThing ITPKC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006224 biolink:NamedThing gastric hamartomatous polyp A non-neoplastic polyp that arises from the stomach and is characterized by the presence of connective tissue stroma overgrowth and cystic formations. tmpaxzxjjyw_mondo_relaxed.owl hamartoma of stomach|stomach hamartoma (disease)|gastric hamartomatous polyp|hamartoma of the stomach UMLS:C0341225|NCIT:C4373|EFO:1000271|SCTID:235685007 owl:Class MONDO:0006189 biolink:NamedThing eccrine porocarcinoma A carcinoma with eccrine differentiation arising from the sweat glands. It may arise de novo or as a malignant transformation of a pre-existing poroma. It usually grows in the legs, buttocks, feet, and trunk and usually presents as an ulcerative plaque. It is characterized by the presence of intraepidermal and dermal nests of malignant epithelial cells. It may recur after excision and metastasize to the lymph nodes and less frequently to distal anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl porocarcinoma|malignant eccrine poroma|epidermotropic eccrine carcinoma|eccrine porocarcinoma of skin|porocarcinoma/spiroadenocarcinoma|eccrine porocarcinoma UMLS:C1266065|GARD:0007431|ICDO:8409/3|DOID:7566|NCIT:C5560|EFO:1000229|SCTID:254708001|MESH:D057090|ONCOTREE:POCA https://rarediseases.info.nih.gov/diseases/7431/eccrine-porocarcinoma owl:Class MONDO:0020512 biolink:NamedThing precursor T-cell acute lymphoblastic leukemia tmpaxzxjjyw_mondo_relaxed.owl precursor T-cell acute lymphoblastic leukemia/lymphoma|precursor T-cell acute lymphocytic leukemia|T-ALL|precursor T-cell acute lymphocytic leukemia/lymphoma ICD10:C91.0|Orphanet:99861 owl:Class MONDO:0018308 biolink:NamedThing liver mesenchymal hamartoma A multicystic, tumor-like hamartomatous lesion that arises from the liver during fetal development. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Following resection, the prognosis is usually good. tmpaxzxjjyw_mondo_relaxed.owl biliary hamartoma|liver MH|VMC|liver mesenchymal hamartoma|hepatic mesenchymal hamartoma|hepatic cystic hamartoma|mesenchymal hamartoma of the liver|MHL|mesenchymal hamartoma of liver|Von Meyenburg complexes disease UMLS:C0334091|ICD10:D13.4|SCTID:715397000|UMLS:C1333971|NCIT:C5751|GARD:0002651|Orphanet:386 Editor note: in NCIT this is classified as non-neoplastic https://rarediseases.info.nih.gov/diseases/2651/hepatic-cystic-hamartoma owl:Class HGNC:7159 biolink:NamedThing MMP13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11584 biolink:NamedThing TBK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034717 biolink:NamedThing integumental taste bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014933 biolink:NamedThing developmental and epileptic encephalopathy, 44 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 44|epileptic encephalopathy, early infantile, type 44|DEE44|EIEE44|early infantile epileptic encephalopathy caused by mutation in UBA5|epileptic encephalopathy, early infantile, 44; EIEE44|UBA5 early infantile epileptic encephalopathy DOID:0080424|UMLS:C4310700|OMIM:617132 owl:Class MONDO:0100110 biolink:NamedThing adenovirus renal infection tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014419 biolink:NamedThing ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development, and intellectual disability in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy, and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. tmpaxzxjjyw_mondo_relaxed.owl PTBHS|PORETTI-Boltshauser syndrome|Poretti-Boltshauser syndrome|ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome ICD10:G11.1|OMIM:615960|UMLS:C4014821|Orphanet:370022 owl:Class MONDO:0002034 biolink:NamedThing cecum lymphoma An extranodal lymphoma that arises from the cecum. The majority are B-cell non-Hodgkin lymphomas. tmpaxzxjjyw_mondo_relaxed.owl cecum lymphoma|cecal lymphoma|lymphoma of caecum|lymphoma of cecum|primary cecum lymphoma|lymphoma of the cecum|caecum lymphoma NCIT:C5515|DOID:1522|UMLS:C1332867 owl:Class MONDO:0002035 biolink:NamedThing colon lymphoma An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of colon|primary colon lymphoma|lymphoma of the colon|colon lymphoma|colonic lymphoma DOID:1523|UMLS:C0519037|NCIT:C4793|SCTID:133751000119102|ICD9:202.80 owl:Class MONDO:0013514 biolink:NamedThing hypotrichosis 3 Any hypotrichosis in which the cause of the disease is a mutation in the KRT74 gene. tmpaxzxjjyw_mondo_relaxed.owl Htss2|KRT74 hypotrichosis|HYPT3|hypt3|hypotrichosis 3|hypotrichosis caused by mutation in KRT74|hypotrichosis type 3|hypotrichosis simplex of the scalp 2 OMIM:613981|UMLS:C3151432|Orphanet:90368|DOID:0110700 owl:Class MONDO:0019575 biolink:NamedThing hypotrichosis simplex of the scalp Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp. tmpaxzxjjyw_mondo_relaxed.owl hereditary hypotrichosis simplex of the scalp SCTID:717256009|ICD10:L65.8|Orphanet:90368|OMIM:146520|OMIM:613981 owl:Class MONDO:0007692 biolink:NamedThing hairy ears tmpaxzxjjyw_mondo_relaxed.owl hairy ears|hypertrichosis pinnae auris 2022-04-01 SCTID:89000008|OMIM:139500|MESH:C562484 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0001728 biolink:NamedThing active vestibular Meniere disease tmpaxzxjjyw_mondo_relaxed.owl active vestibular Meniere disease|active vestibular Meniere's disease|vestibular active Mnire's disease|active Meniere's disease, vestibular UMLS:C0155498|ICD9:386.03|SCTID:194350005|DOID:13491 owl:Class NCBITaxon:39733 biolink:NamedThing Astroviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017772 biolink:NamedThing oral erosive lichen tmpaxzxjjyw_mondo_relaxed.owl ICD10:L43.8|UMLS:CN203692|Orphanet:31142 owl:Class CL:0002586 biolink:NamedThing retinal pigment epithelial cell An epithelial cell of the retinal pigmented epithelium. tmpaxzxjjyw_mondo_relaxed.owl FMA:75802|BTO:0004910 tmeehan 2011-03-06T03:37:09Z cell owl:Class MONDO:0005920 biolink:NamedThing Plasmodium falciparum malaria Malaria resulting from infection by Plasmodium falciparum. tmpaxzxjjyw_mondo_relaxed.owl falciparum malaria [malignant tertian]|Plasmodium falciparum malaria, unspecified|malignant tertian fever|falciparum malaria|malaria fever, subtertian|malignant tertian fever (finding) SCTID:62676009|UMLS:C0024535|ICD9:084.9|DOID:14067|ICD10:B50|ICD9:084.0|NCIT:C34798|ICD10:B50.9|EFO:0007444|MESH:D016778 owl:Class GO:0006996 biolink:NamedThing organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl single-organism organelle organization|organelle organization and biogenesis|organelle organisation|single organism organelle organization owl:Class MONDO:0004716 biolink:NamedThing stomach carcinoma in situ A in situ carcinoma that involves the stomach. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of stomach stage 0|stage 0 carcinoma of stomach|stage 0 stomach cancer|stage 0 carcinoma of the stomach|stomach in situ carcinoma|stage 0 gastric carcinoma|gastric carcinoma, stage 0|stage 0 gastric (stomach) cancer|stage 0 gastric cancer aJCC v6 and v7|stage 0 stomach carcinoma|stage 0 gastric cancer|gastric carcinoma stage 0|stage 0 gastric cancer aJCC v6|carcinoma in situ of stomach|stage 0 gastric carcinoma in situ|stage 0 gastric cancer aJCC v7|carcinoma in situ of the stomach|gastric carcinoma in situ|carcinoma of the stomach stage 0|stomach carcinoma stage 0|stomach carcinoma in situ UMLS:C0154060|DOID:9138|SCTID:92756002|ICD9:230.2|ICD10:D00.2|NCIT:C7788 owl:Class GO:2000738 biolink:NamedThing positive regulation of stem cell differentiation Any process that activates or increases the frequency, rate or extent of stem cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0037821 biolink:NamedThing porphyrin metabolism disease A disease that has its basis in the disruption of porphyrin-containing compound metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of porphyrin-containing compound metabolic process|porphyrin-containing compound metabolic process disease|disorder of porphyrin and heme metabolism|disorder of porphyrin metabolism SCTID:29094004 owl:Class MONDO:0100422 biolink:NamedThing acute myeloid leukemia, RUNX1 gene mutation Any acute myeloid leukemia that has the chromosomal anomaly RUNX1 gene mutation. (A change in the nucleotide sequence of the RUNX1 gene.) tmpaxzxjjyw_mondo_relaxed.owl AML, AMLCR1 Gene Mutation|AML, RUNX1 gene mutation|AML, CBFA2 Gene Mutation|AML, AML1 Mutation|AML, Acute Myeloid Leukemia 1 Gene Mutation|AML, AML1 Gene Mutation|AML, CBFalpha2 Mutation|AML, Runt-Related Transcription Factor 1 Gene Mutation NCIT:C129786|NCIT:C38362 owl:Class MONDO:0008554 biolink:NamedThing thrombocythemia 1 tmpaxzxjjyw_mondo_relaxed.owl THCYT1|thrombocythemia type 1|thrombocytosis 1|thrombocythemia 1 Orphanet:3318|UMLS:C0040028|OMIM:187950|UMLS:C3277671|Orphanet:71493 https://github.com/monarch-initiative/mondo/issues/230 owl:Class MONDO:0032787 biolink:NamedThing holoprosencephaly 12 with or without pancreatic agenesis tmpaxzxjjyw_mondo_relaxed.owl HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS|HPE12 OMIM:618500 owl:Class MONDO:0016492 biolink:NamedThing beta-thalassemia with other manifestations Beta-thalassemias with other manifestations are a group of beta-thalassemias associated with another disorder. tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:231386|ICD10:D58.2 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: beta-thalassemia and related diseases' MONDO_0017145 owl:Class MONDO:0002797 biolink:NamedThing childhood medulloblastoma A medulloblastoma occurring in children. tmpaxzxjjyw_mondo_relaxed.owl medulloblastoma|childhood medulloblastoma|medulloblastoma of childhood|pediatric medulloblastoma|medulloblastoma, childhood DOID:3869|NCIT:C3997|UMLS:C0278510|GARD:0009350|MESH:D008527 https://rarediseases.info.nih.gov/diseases/9350/medulloblastoma-childhood owl:Class MONDO:0003263 biolink:NamedThing childhood cerebellar neoplasm A neoplasm that affects the cerebellum and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood cerebellar neoplasms|pediatric cerebellar tumor|pediatric cerebellar neoplasm|pediatric tumor of the cerebellum|childhood cerebellar tumor|childhood neoplasm of the cerebellum|childhood neoplasm of cerebellum|pediatric neoplasm of cerebellum|pediatric tumor of cerebellum|pediatric neoplasm of the cerebellum|childhood tumor of the cerebellum|childhood cerebellar tumors|childhood cerebellar neoplasm|childhood tumor of cerebellum DOID:5059|NCIT:C5970|UMLS:C1332959 owl:Class GO:0009306 biolink:NamedThing protein secretion The controlled release of proteins from a cell. tmpaxzxjjyw_mondo_relaxed.owl protein secretion resulting in cell fate commitment|protein secretion during cell fate commitment|glycoprotein secretion owl:Class MONDO:0002171 biolink:NamedThing giant cell tumor A benign, intermediate, or malignant tumor that arises from the bone or soft tissue. It is characterized by the presence of multinucleated osteoclast-like giant cells. tmpaxzxjjyw_mondo_relaxed.owl giant cell neoplasm|giant cell tumors|giant cell tumors (morphologic abnormality)|giant cell tumor (qualifier value)|tumor of the giant cell|giant cell tumor|giant cell tumor NOS (morphologic abnormality)|giant cell tumor (morphologic abnormality) NCIT:C3055|SCTID:443790001|UMLS:C0017525|MESH:D005870|DOID:200 editor note: consider separate term for neoplasm (C3055 in NCIT) owl:Class MONDO:0012578 biolink:NamedThing autism, susceptibility to, 13 tmpaxzxjjyw_mondo_relaxed.owl autism, susceptibility to, 13|AUTS13 OMIM:610908 owl:Class HGNC:24564 biolink:NamedThing C2CD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21679 biolink:NamedThing RSPO1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006339 biolink:NamedThing third ventricle choroid plexus stroma tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17023 biolink:NamedThing RNF139 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045604 biolink:NamedThing regulation of epidermal cell differentiation Any process that modulates the frequency, rate or extent of epidermal cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl regulation of hypodermal cell differentiation owl:Class MONDO:0010640 biolink:NamedThing Leber optic atrophy, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl Lhon, modifier of|Leber hereditary optic neuropathy, modifier of|Leber optic atrophy, susceptibility to|Loas OMIM:308905|Orphanet:104 owl:Class MONDO:0009822 biolink:NamedThing otoonychoperoneal syndrome tmpaxzxjjyw_mondo_relaxed.owl oto-onycho-peroneal syndrome|otoonychoperoneal syndrome Orphanet:2793|OMIM:259780|ICD9:759.89|ICD10:Q87.5|GARD:0004170|SCTID:441944007|UMLS:C1850105|MESH:C564912 https://rarediseases.info.nih.gov/diseases/4170/otoonychoperoneal-syndrome owl:Class GO:0048241 biolink:NamedThing epinephrine transport The directed movement of epinephrine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl adrenaline transport owl:Class MONDO:0019565 biolink:NamedThing hereditary von Willebrand disease Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N). tmpaxzxjjyw_mondo_relaxed.owl von Willebrand disease|congenital von willebrand's disease|hereditary von Willebrand disease (hereditary or acquired)|vascular hemophilia|von Willebrand-Jrgens disease|hereditary von Willebrand disease|von Willebrand disorder|von Willebrand's-Jurgens' disease|vascular pseudohemophilia|congenital von willebrand disease|von Willebrand's disease|von Willebrand-Jurgens disease UMLS:C0042974|MESH:C531844|SCTID:234446004|NCIT:C68677|SCTID:128105004|OMIM:314560|MESH:D014842|ICD9:286.4|OMIM:277480|OMIM:193400|ICD10:D69.8|OMIM:613554|DOID:12531|ICD10:D68.0|Orphanet:903|GARD:0007867|MedDRA:10047715 owl:Class UBERON:0004809 biolink:NamedThing salivary gland epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:48354 biolink:NamedThing polar solvent A solvent that is composed of polar molecules. Polar solvents can dissolve ionic compounds or ionisable covalent compounds. tmpaxzxjjyw_mondo_relaxed.owl polar solvent|polar solvents owl:Class CL:0002658 biolink:NamedThing glandular cell of the large intestine A glandular epithelial cell of the large intestine. tmpaxzxjjyw_mondo_relaxed.owl FMA:87194 tmeehan 2011-07-08T04:03:01Z cell owl:Class MONDO:0020096 biolink:NamedThing autosomal recessive isolated diffuse palmoplantar keratoderma Autosomal recessive form of isolated diffuse palmoplantar keratoderma. tmpaxzxjjyw_mondo_relaxed.owl isolated diffuse palmoplantar keratoderma, autosomal recessive|autosomal recessive isolated diffuse palmoplantar hyperkeratosis Orphanet:98356|ICD10:Q82.8|UMLS:CN229269 owl:Class GO:2001021 biolink:NamedThing negative regulation of response to DNA damage stimulus Any process that stops, prevents or reduces the frequency, rate or extent of response to DNA damage stimulus. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cellular response to DNA damage stimulus|negative regulation of DNA damage response|negative regulation of cellular DNA damage response|negative regulation of response to genotoxic stress owl:Class HGNC:23247 biolink:NamedThing DNAL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:7000122 biolink:NamedThing exposure to sea water A exposure event involving the interaction of an exposure receptor to sea water. tmpaxzxjjyw_mondo_relaxed.owl sea water exposure owl:Class ECTO:7000063 biolink:NamedThing exposure to water in environment A exposure event involving the interaction of an exposure receptor to liquid water. tmpaxzxjjyw_mondo_relaxed.owl liquid water exposure owl:Class MONDO:0001213 biolink:NamedThing serous glue ear Chronic form of serous otitis media. tmpaxzxjjyw_mondo_relaxed.owl chronic serous otitis media|serous otitis media, chronic|chronic secretory otitis media, serous SCTID:81564005|ICD9:381.1|UMLS:C0155421|DOID:11181|ICD9:381.10|ICD9:381.19|ICD10:H65.20|ICD10:H65.2 owl:Class MONDO:0021206 biolink:NamedThing chronic non-suppurative otitis media Chronic form of non-suppurative otitis media. tmpaxzxjjyw_mondo_relaxed.owl non-suppurative otitis media, chronic SCTID:232254004|UMLS:C0395869|ICD9:381.3 owl:Class MONDO:0016851 biolink:NamedThing maternal uniparental disomy of chromosome X tmpaxzxjjyw_mondo_relaxed.owl UPD(X)mat|maternal uniparental disomy of chromosome type X ICD10:Q99.8|Orphanet:261519 owl:Class MONDO:0000240 biolink:NamedThing invasive aspergillosis An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238013|SCTID:721798004|DOID:0050073 owl:Class MONDO:0017933 biolink:NamedThing hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation Orphanet:324525|UMLS:CN204073|ICD10:I42.2 owl:Class MONDO:0010415 biolink:NamedThing myopathy, reducing body, X-linked, childhood-onset tmpaxzxjjyw_mondo_relaxed.owl myopathy, reducing body, X-linked, childhood-onset|reducing body myopathy, X-linked 1B, with late childhood or adult onset|RBMX1B Orphanet:97239|OMIM:300718|UMLS:C2678015|MESH:C567468 owl:Class MONDO:0009825 biolink:NamedThing 5-oxoprolinase deficiency 5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria. tmpaxzxjjyw_mondo_relaxed.owl oxoprolinuria due to 5-oxoprolinase deficiency|OPLAHD|inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder|5-oxoprolinase deficiency (disease)|inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|5-oxoprolinase deficiency|rare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity|5-alpha-oxoprolinase deficiency|oxoprolinuria due to oxoprolinase deficiency 5-oxoprolinase deficiency (disease) UMLS:C0268525|SCTID:26132002|OMIM:260005|GARD:0005681|ICD9:270.8|Orphanet:33572|MESH:C535322|HP:0040142|ICD10:E72.8 owl:Class MONDO:0019138 biolink:NamedThing bleeding diathesis due to a collagen receptor defect tmpaxzxjjyw_mondo_relaxed.owl Orphanet:73271|OMIM:614201|ICD10:D69.8|OMIM:614200 owl:Class MONDO:0042972 biolink:NamedThing meningococcemia tmpaxzxjjyw_mondo_relaxed.owl meningococcal septicemia|meningococcemia GARD:0003472|MEDGEN:6300|SCTID:4089001|UMLS:C0025306|ICD9:036.2 owl:Class MONDO:0005373 biolink:NamedThing meningococcal infection Infections with bacteria of the species neisseria meningitidis. tmpaxzxjjyw_mondo_relaxed.owl Neisseria meningitidis infection|infections, Neisseria meningitidis|meningococcal disease SCTID:23511006|EFO:0004249|ICD9:036.89|UMLS:C0025303|ICD9:036|GARD:0007169|ICD10:A39|GARD:0009547|MESH:D008589|ICD9:036.9 https://rarediseases.info.nih.gov/diseases/9547/meningococcal-infection owl:Class NCBITaxon:4107 biolink:NamedThing Solanum tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:49275|NCBITaxon:4080 ncbi_taxonomy owl:Class NCBITaxon:424574 biolink:NamedThing Solaneae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:28984 biolink:NamedThing WASHC5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016011 biolink:NamedThing fetal alcohol syndrome Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention). tmpaxzxjjyw_mondo_relaxed.owl FAS|ARBD|alcohol-related birth defects|FASD|fetal alcohol spectrum disorders|static encephalopathy|alcohol-related neurodevelopmental disorder|ARND UMLS:C0015923|MedDRA:10016845|SCTID:205788004|NCIT:C84713|DOID:0050665|DOID:0050667|Orphanet:1915|ICD10:Q86.0 owl:Class MONDO:0008288 biolink:NamedThing popliteal cyst A synovial cyst located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint. tmpaxzxjjyw_mondo_relaxed.owl popliteal cyst|baker cyst MESH:D011151|OMIM:175750|ICD9:727.51|SCTID:82675004 owl:Class MONDO:0011670 biolink:NamedThing Ehlers-Danlos syndrome due to tenascin-X deficiency tmpaxzxjjyw_mondo_relaxed.owl classical-like Ehlers-Danlos syndrome|classical-like EDS|EDSCLL|EDS due to Tnx deficiency|EDS, classic-like type|TNX deficiency|Ehlers-Danlos syndrome, classic-like|EDS due to TNX deficiency|Tnx deficiency|clEDS|Ehlers-Danlos syndrome due to tenascin-X deficiency|Ehlers-Danlos syndrome, classic-like type|Ehlers-Danlos-like syndrome due to tenascin-X deficiency GARD:0008507|MESH:C536193|OMIM:606408|ICD10:Q79.6|Orphanet:230839|UMLS:C1848029 owl:Class MONDO:0016639 biolink:NamedThing lower limb deficiency-hypospadias syndrome Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977. tmpaxzxjjyw_mondo_relaxed.owl lower limb malformation-hypospadias syndrome|Fried-Goldberg-Mundel syndrome Orphanet:2487|UMLS:C2930962|MESH:C535640 owl:Class CL:0000432 biolink:NamedThing reticular cell Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum. tmpaxzxjjyw_mondo_relaxed.owl reticulum cell FMA:62877 cell owl:Class MONDO:0041448 biolink:NamedThing metastasis from malignant tumor of colon tmpaxzxjjyw_mondo_relaxed.owl metastasis from malignant tumor of colon UMLS:C1282500|SCTID:314998002 owl:Class HGNC:2860 biolink:NamedThing DHCR7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010986 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 9 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene. tmpaxzxjjyw_mondo_relaxed.owl NRSD9|DFNB9|deafness, autosomal recessive type 9|neurosensory nonsyndromic recessive deafness 9|autosomal recessive nonsyndromic deafness 9|auditory neuropathy, autosomal recessive, 1|auditory neuropathy, nonsyndromic recessive|OTOF autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 9|deafness, autosomal recessive 9|autosomal recessive deafness 9|autosomal recessive nonsyndromic deafness caused by mutation in OTOF OMIM:601071|ICD10:H90.3|DOID:0110535 owl:Class MONDO:0021944 biolink:NamedThing auditory neuropathy A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception. tmpaxzxjjyw_mondo_relaxed.owl auditory neuropathy|familial auditory neuropathy|auditory dys-synchrony|auditory neuropathy spectrum disorder|ANSD|progressive auditory neuropathy GARD:0009274|NCIT:C116364|OMIMPS:609129|UMLS:C1852271|OMIM:609129|SCTID:443805006|UMLS:C2732267|MESH:C538268 Editor note: OMIMPS seems to refer to a more restricted concept https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy owl:Class MONDO:0004578 biolink:NamedThing flat retinoschisis tmpaxzxjjyw_mondo_relaxed.owl SCTID:83405000|DOID:8464|UMLS:C0154817|ICD9:361.11 owl:Class MONDO:0004579 biolink:NamedThing retinoschisis An inherited or acquired disorder characterized by splitting of the retina into two layers. It results in loss of vision. tmpaxzxjjyw_mondo_relaxed.owl MESH:D041441|UMLS:C0152439|DOID:8465|SCTID:44268007|NCIT:C85046|ICD10:H33.10|ICD9:361.10 owl:Class MONDO:0003748 biolink:NamedThing flying phobia An overwhelming, irrational, and persistent fear of traveling in an aircraft. tmpaxzxjjyw_mondo_relaxed.owl EFO:1001889|NCIT:C35413|DOID:605 owl:Class MONDO:0006335 biolink:NamedThing ovarian endometrioid adenocarcinoma An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma. tmpaxzxjjyw_mondo_relaxed.owl endometrioid cancer of ovary|endometrioid adenocarcinoma of ovary|endometrioid carcinoma of the ovary|ovarian endometrioid adenocarcinoma|ovarian endometrioid cancer|endometrioid carcinoma of ovary|endometrioid cancer of the ovary|endometrium adenocarcinoma of ovary|endometrioid ovarian cancer|ovary endometrium adenocarcinoma|endometrioid adenocarcinoma of the ovary|ovarian endometrioid carcinoma|endometrioid carcinoma ovary|endometrioid ovary carcinoma DOID:5828|EFO:1000416|Orphanet:454723|UMLS:C0346163|SCTID:254852002|ONCOTREE:EOV|ICD10:C56|NCIT:C7979 owl:Class MONDO:0017967 biolink:NamedThing testicular agenesis tmpaxzxjjyw_mondo_relaxed.owl congenital absence of testes|anorchia|absence of testes|empty scrotum|bilateral anorchia ICD10:Q55.0|Orphanet:325124|GARD:0005819|SCTID:371015003 owl:Class MONDO:0023040 biolink:NamedThing ectodermal dysplasia Bartalos type tmpaxzxjjyw_mondo_relaxed.owl GARD:0002043 https://rarediseases.info.nih.gov/diseases/2043/ectodermal-dysplasia-bartalos-type owl:Class NCBITaxon:2585030 biolink:NamedThing unclassified Riboviria tmpaxzxjjyw_mondo_relaxed.owl unclassified RNA viruses GC_ID:1 NCBITaxon:1922347 ncbi_taxonomy owl:Class MONDO:0002970 biolink:NamedThing ciliary body disorder A disease involving the ciliary body. tmpaxzxjjyw_mondo_relaxed.owl ciliary body disease or disorder|disease or disorder of ciliary body|ciliary body disorder|disorder of ciliary body|disease of ciliary body|ciliary body disease NCIT:C35775|UMLS:C0271100|DOID:4353|SCTID:68575007 owl:Class MONDO:0018489 biolink:NamedThing autoimmune encephalopathy with parasomnia and obstructive sleep apnea Autoimmune encephalopathy with parasomnia and obstructive sleep apnea is a rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction, gait instability and repetitive episodes of respiratory insufficiency, as well as autoantibodies against IgLON5. Patients may present stridor, chorea, limb ataxia, abnormal ocular movements, and bulbar symptoms (i.e. dysphagia, dysarthria, episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported. tmpaxzxjjyw_mondo_relaxed.owl anti-IgLON5 syndrome|anti-IgLON5 disease UMLS:CN237490|Orphanet:420789|SCTID:765751002|ICD10:G04.8 owl:Class UBERON:0001303 biolink:NamedThing left uterine tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010135 biolink:NamedThing thyroid dyshormonogenesis 3 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene. tmpaxzxjjyw_mondo_relaxed.owl TDH3|thyroid dyshormonogenesis 3|familial thyroid dyshormonogenesis caused by mutation in TG|TG familial thyroid dyshormonogenesis|thyroid hormonogenesis, genetic defect in, 3|thyroid dyshormonogenesis type 3|hypothyroidism, congenital, due to dyshormonogenesis, 3 OMIM:274700|Orphanet:95716|MESH:C562769|UMLS:C0342194|SCTID:23536000 owl:Class MONDO:0033559 biolink:NamedThing intellectual developmental disorder with seizures and language delay tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY|IDDSELD OMIM:619000 owl:Class FOODON:03315173 biolink:NamedThing fish product (unspecified species) A fish product is a home-made or commercially produced or retail or wholesale product containing substantial amounts of freshwater or saltwater fish and/or shellfish flesh. Note that this category should avoid items that mention a particular species of fish or shellfish. tmpaxzxjjyw_mondo_relaxed.owl SUBSET_SIREN:F15173 SIREN DB annotation: * derives from 'skeletal meat part' (http://purl.obolibrary.org/obo/FOODON_03420175) http://langual.org subset_siren https://en.wikipedia.org/wiki/Fish_products Damion Dooley owl:Class FOODON:00001248 biolink:NamedThing fish food product A fish food product includes products made from any fish species (aquatic vertebrate with gills and fins). tmpaxzxjjyw_mondo_relaxed.owl Damion Dooley owl:Class MONDO:0004996 biolink:NamedThing childhood acute myeloid leukemia Acute myeloid leukemia occurring in childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood acute granulocytic leukemia|childhood acute myeloid leukaemia|acute myeloid leukemia of childhood|pediatric acute myelogenous leukemia|childhood acute myelocytic leukemia|childhood acute myelogenous leukemia|pediatric acute myeloid leukemia|childhood acute myeloblastic leukemia|pediatric acute myeloblastic leukemia|childhood AML|paediatric acute myeloid leukaemia|pediatric acute myelocytic leukemia|childhood acute myeloid leukemia|acute myeloid leukemia (AML)|pediatric AML DOID:0070323|NCIT:C9160|UMLS:C0220621|EFO:0000330|ICDO:M9861/3 owl:Class MONDO:0006487 biolink:NamedThing vaginal adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the vagina. Myoepithelial cells are usually not present. tmpaxzxjjyw_mondo_relaxed.owl vaginal adenoid cystic carcinoma|vaginal adenoid cystic cancer EFO:1000617|NCIT:C40261|UMLS:C1519912 owl:Class UBERON:0003457 biolink:NamedThing head bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007914 biolink:NamedThing bone of craniocervical region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012748 biolink:NamedThing primary ciliary dyskinesia 7 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH11 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in DNAH11|CILD7|DNAH11 primary ciliary dyskinesia|primary ciliary dyskinesia type 7|ciliary dyskinesia, primary, type 7|ciliary dyskinesia, primary, 7|ciliary dyskinesia, primary, 7, with or without situs inversus|primary ciliary dyskinesia 7 with or without situs inversus|primary ciliary dyskinesia 7 UMLS:C2678473|DOID:0110605|MESH:C567504|ICD10:Q34.8|OMIM:611884 owl:Class MONDO:0009437 biolink:NamedThing Bamforth-Lazarus syndrome Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases. tmpaxzxjjyw_mondo_relaxed.owl hypothyroidism, ATHYROIDAL, with spiky hair and cleft palate|Bamforth syndrome|hypothyroidism, thyroidal or ATHYROIDAL, with spiky hair and cleft palate|hypothyroidism-cleft palate syndrome|Bamforth-Lazarus syndrome|Athyroidal hypothyroidism-spiky hair-cleft palate syndrome|hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate MESH:C537901|OMIM:241850|Orphanet:1226|GARD:0000414|SCTID:722375007|DOID:0050655|ICD10:E03.1 owl:Class MONDO:0000503 biolink:NamedThing lung adenocarcinoma in situ A localized non-invasive adenocarcinoma of the lung measuring 3 cm or less. It is characterized by a pure lepidic growth pattern and the lack of stromal, vascular, or pleural invasion. tmpaxzxjjyw_mondo_relaxed.owl lung adenosquamous cell carcinoma in situ|stage 0 adenosquamous cell carcinoma of lung|stage 0 adenosquamous lung cancer|stage 0 adenosquamous cell carcinoma of the lung|stage 0 adenosquamous cell lung carcinoma|adenosquamous cell carcinoma in situ of the lung|stage 0 adenosquamous lung carcinoma aJCC v7|bronchioalveolar carcinoma|bronchioloalveolar carcinoma|lung adenocarcinoma In situ|in situ pulmonary adenocarcinoma|stage 0 adenosquamous lung carcinoma aJCC v6|stage 0 adenosquamous lung carcinoma aJCC v6 and v7|adenosquamous cell carcinoma in situ of lung UMLS:C0854971|DOID:0050870|ONCOTREE:LAIS|NCIT:C136486 Editor note: check why NCIT has two classes owl:Class MONDO:0003218 biolink:NamedThing adenocarcinoma in situ A lesion in which the normally situated glands are partially or completely replaced by atypical cells with malignant characteristics. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma in situ|AIS NCIT:C4123|MESH:D065311|DOID:4943|ONCOTREE:AIS|UMLS:C0334276|ICDO:8140/2 owl:Class MONDO:0017587 biolink:NamedThing onychomatricoma A neoplasm involving a UBERON:0002283. tmpaxzxjjyw_mondo_relaxed.owl tumor of nail matrix|nail matrix neoplasm|nail matrix tumor|neoplasm of nail matrix UMLS:CN203393|Orphanet:300512 owl:Class GO:0044275 biolink:NamedThing cellular carbohydrate catabolic process The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl cellular carbohydrate degradation|cellular carbohydrate catabolism|cellular carbohydrate breakdown owl:Class ECTO:0000173 biolink:NamedThing exposure to corticosteroid An exposure to corticosteroid. tmpaxzxjjyw_mondo_relaxed.owl exposure to corticosteroid owl:Class UBERON:0019293 biolink:NamedThing white matter of pontine tegmentum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019292 biolink:NamedThing white matter of pons tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006857 biolink:NamedThing middle cerebral artery infarction Necrosis occurring in the middle cerebral artery distribution system which brings blood to the entire lateral aspects of each cerebral hemisphere. Clinical signs include impaired cognition; aphasia; agraphia; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction. tmpaxzxjjyw_mondo_relaxed.owl EFO:1001045|UMLS:C0740392|DOID:3525|MESH:D020244 owl:Class MONDO:0004991 biolink:NamedThing minimally invasive lung adenocarcinoma A solitary adenocarcinoma arising from the lung measuring 3 cm or less. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous. tmpaxzxjjyw_mondo_relaxed.owl carcinoma, bronchioloalveolar, malignant|bronchiolo-alveolar lung carcinoma|bronchioloalveolar adenocarcinoma of the lung|bronchiolo-alveolar adenocarcinoma|bronchioloalveolar lung adenocarcinoma|bronchioalveolar adenocarcinoma of the lung|bronchiolo-alveolar carcinoma of the lung|bac|bronchiolo-alveolar carcinoma of lung|bronchioloalveolar carcinoma|minimally invasive lung adenocarcinoma|bronchioloalveolar adenocarcinoma of lung|bronchioalveolar lung carcinoma|bronchioalveolar adenocarcinoma of lung ICDO:8250/3|NCIT:C2923|ICDO:8251/3|DOID:4926|SCTID:373627005|MESH:D002282|ICD9:162.9|EFO:0000308 owl:Class MONDO:0008677 biolink:NamedThing widow's peak tmpaxzxjjyw_mondo_relaxed.owl widow's peak (disease)|widow's peak|widow'S peak widow's peak (disease) 2022-04-01 OMIM:194000|HP:0000349 Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: HP:0000349 HP:0000349 owl:Class MONDO:0015976 biolink:NamedThing hyper-IgM syndrome without susceptibility to opportunistic infections tmpaxzxjjyw_mondo_relaxed.owl HIGM without susceptibility to opportunistic infections OMIM:605258|OMIM:608184|UMLS:CN200573|Orphanet:183666|OMIM:608106|ICD10:D80.5 owl:Class MONDO:0003947 biolink:NamedThing hyper-IgM syndrome A primary immune deficiency disorder characterized by defective CD40 signaling; via B cells affecting class switch recombination (CSR) and somatic hypermutation. tmpaxzxjjyw_mondo_relaxed.owl hyperimmunoglobulin M syndrome|immunodeficiency with hyper-IgM MESH:D053306|ICD9:279.05|NCIT:C3990|OMIMPS:308230|DOID:0080544|Wikidata:Q1617658|SCTID:82286005|UMLS:C0272236 Editor note: consider merging two NCIT classes owl:Class HGNC:4800 biolink:NamedThing HSD17B10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043176 biolink:NamedThing phosphoribosylpyrophosphate synthetase deficiency tmpaxzxjjyw_mondo_relaxed.owl deafness hyperuricemia neurologic ataxia|PRPP synthetase deficiency HGNC:9462|SCTID:124343001|UMLS:C1291401|MESH:C535995|GARD:0004337|GARD:0001690|MESH:C537897|UMLS:C2931079 https://rarediseases.info.nih.gov/diseases/4337/phosphoribosylpyrophosphate-synthetase-superactivity owl:Class HP:0040195 biolink:NamedThing Decreased head circumference An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. tmpaxzxjjyw_mondo_relaxed.owl Decreased head circumference SNOMEDCT_US:271611007|UMLS:C0424688 Although HC measures skull size, it typically also reflects overall brain volume and has been described as a widely used proxy of neural growth and brain size. Brain size outside of normal values is an important risk factor for cognitive and motor delay. Microcephaly at birth has been termed primary microcephaly and that acquired after birth is secondary microcephaly. human_phenotype owl:Class HGNC:7603 biolink:NamedThing MYO5B tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11588 biolink:NamedThing Rift Valley fever virus tmpaxzxjjyw_mondo_relaxed.owl RVFV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1933187 biolink:NamedThing Rift Valley fever phlebovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001066 biolink:NamedThing late yaws Late yaws is the tertiary, non-contagious stage of yaws, endemic tropical treponemal nonvenereal infection. Late yaws is characterized by destructive and deforming lesions of the skin, bones, and joints. tmpaxzxjjyw_mondo_relaxed.owl gummata and ulcers due to yaws|ulcers of yaws|multiple papillomata due to yaws and wet crab yaws|nodular late yaws|yaws gummata and ulcers|gummata of yaws|gummatous frambeside SCTID:186968004|DOID:10567|ICD10:A66.4|ICD10:A66.1|NCIT:C41354|ICD9:102.4|UMLS:C0276007|ICD9:102.1|UMLS:C1517744 owl:Class CHEBI:37848 biolink:NamedThing plant hormone A plant growth regulator that modulates the formation of stems, leaves and flowers, as well as the development and ripening of fruit. The term includes endogenous and non-endogenous compounds (e.g. active compounds produced by bacteria on the leaf surface) as well as semi-synthetic and fully synthetic compounds. tmpaxzxjjyw_mondo_relaxed.owl phytohormone|plant growth hormone|plant hormones|plant growth hormones|plant growth factors|phytohormones|plant growth factor owl:Class CHEBI:24621 biolink:NamedThing hormone Originally referring to an endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function, the term is now commonly used to include non-endogenous, semi-synthetic and fully synthetic analogues of such compounds. tmpaxzxjjyw_mondo_relaxed.owl hormones|endocrine owl:Class MONDO:0021155 biolink:NamedThing X-linked cone-rod dystrophy X-linked form of cone-rod dystrophy. tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy, X-linked OMIM:304020 owl:Class MONDO:0030977 biolink:NamedThing neuropathy, hereditary motor, with myopathic features tmpaxzxjjyw_mondo_relaxed.owl HMNMYO OMIM:619216 owl:Class UBERON:0010143 biolink:NamedThing seminal vesicle fluid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002351 biolink:NamedThing glottis cancer A malignant neoplasm that affects the glottic area of the larynx. The vast majority of cases represent squamous cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl glottis cancer|malignant glottis tumor|cancer of glottis|malignant tumor of the glottis|malignant neoplasm of the glottis|malignant tumor of glottis|malignant neoplasm of glottis|Ca larynx - glottis|malignant glottis neoplasm NCIT:C3544|SCTID:187841006|ICD9:161.0|DOID:2595|UMLS:C0153483|ICD10:C32.0 owl:Class MONDO:0014806 biolink:NamedThing spinal muscular atrophy with congenital bone fractures 1 Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene. tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy with congenital bone fractures 1|spinal muscular atrophy type 1 with congenital bone fractures|TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures|SMABF1|SMA1 with congenital bone fractures|spinal muscular atrophy with congenital bone fractures type 1|prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4|spinal muscular atrophy, type I, with congenital bone fractures UMLS:C4225177|UMLS:C1849101|MESH:C564805|GARD:0004947|OMIM:271225|OMIM:616866 owl:Class GO:0046324 biolink:NamedThing regulation of glucose import Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. tmpaxzxjjyw_mondo_relaxed.owl regulation of glucose uptake owl:Class MONDO:0045018 biolink:NamedThing creatine biosynthetic process disease A disease that has its basis in the disruption of creatine biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of creatine synthesis|creatine synthesis disease|disorder of creatine biosynthetic process SCTID:297226004|UMLS:C0574079 owl:Class MONDO:0037871 biolink:NamedThing amino acid metabolism disease A disease that has its basis in the disruption of cellular amino acid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of amino acid metabolism|amino acid metabolism disorder|amino acidopathy|disorder of cellular amino acid metabolic process|cellular amino acid metabolic process disease|amino acid disorder NCIT:C97090|SCTID:44779003 owl:Class UBERON:0005339 biolink:NamedThing outflow tract pulmonary component tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003565 biolink:NamedThing urethral villous adenoma An epithelial neoplasm of the urethra, which is morphologically characterized by the presence of a villous architectural pattern. tmpaxzxjjyw_mondo_relaxed.owl urethral villous adenoma|urethra villous adenoma NCIT:C39872|DOID:5643|UMLS:C1519828 owl:Class MONDO:0021239 biolink:NamedThing urethra neoplasm A neoplasm (disease) that involves the urethra. tmpaxzxjjyw_mondo_relaxed.owl urethra tumors|neoplasms. urethra|urethra neoplasms|urethral tumor|neoplasm of the urethra|tumor of urethra|neoplasm of urethra|urethra tumor|urethral neoplasms|tumors. urethra|urethral tumors|tumor of the urethra|urethra neoplasm (disease)|urethral neoplasm EFO:0003846|NCIT:C3428 owl:Class UBERON:0003280 biolink:NamedThing endothelium of main bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002340 biolink:NamedThing epithelium of main bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009055 biolink:NamedThing cutis marmorata telangiectatica congenita Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin. tmpaxzxjjyw_mondo_relaxed.owl cutis marmorata telangiectatica congenita|CMTC|cutis marmorata telangiectatica congenita (disease)|hereditary cutis marmorata telangiectatica congenita|Van Lohuizen syndrome cutis marmorata telangiectatica congenita (disease) MESH:C536226|Orphanet:1556|GARD:0006228|SCTID:254778000|ICD10:Q82.8|HP:0025107|OMIM:219250|ICD9:757.8 owl:Class MONDO:0019708 biolink:NamedThing primary bone dysplasia with disorganized development of skeletal components tmpaxzxjjyw_mondo_relaxed.owl primary skeletal dysplasia with disorganized development of skeletal components|primary osteodysplasia with disorganized development of skeletal components 2022-01-01 Orphanet:93450 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class MONDO:0020448 biolink:NamedThing right inferior vena cava connecting to left-sided atrium tmpaxzxjjyw_mondo_relaxed.owl right IVC connecting to left-sided atrium|right inferior caval vein connecting to left-sided atrium Orphanet:99119|ICD10:Q26.8 owl:Class GO:0032104 biolink:NamedThing regulation of response to extracellular stimulus Any process that modulates the frequency, rate or extent of a response to an extracellular stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011891 biolink:NamedThing febrile seizures, familial, 8 A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. tmpaxzxjjyw_mondo_relaxed.owl childhood absence epilepsy caused by mutation in GABRG2|epilepsy, childhood absence, susceptibility to, 2|GEFSP3|susceptibility to childhood absence epilepsy 2|epilepsy, childhood absence, susceptibility to, type 2|Gefs+, type 3|GABRG2 generalized epilepsy with febrile seizures plus|generalized epilepsy with febrile seizures plus caused by mutation in GABRG2|ECA2|generalized epilepsy with febrile seizures plus, type 3|GABRG2 childhood absence epilepsy UMLS:C1858674|Orphanet:64280|UMLS:C1843244|MESH:C565811|DOID:0111298|Orphanet:36387|OMIM:607681|OMIM:611277 owl:Class MONDO:0021431 biolink:NamedThing squamous cell carcinoma of buccal mucosa A squamous cell carcinoma that involves the buccal mucosa. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of the buccal mucosa|scc of buccal mucosa|buccal mucosa squamous cell carcinoma|scc of the buccal mucosa NCIT:C4040|UMLS:C0280299|SCTID:254437001 owl:Class HGNC:6024 biolink:NamedThing IL7R tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024563 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 1 Any herpes simplex encephalitis in which the cause of the disease is a mutation in the UNC93B1 gene. tmpaxzxjjyw_mondo_relaxed.owl encephalopathy, acute, infection-induced, susceptibility to, 1|UNC93B1 herpes simplex encephalitis|herpes simplex encephalitis caused by mutation in UNC93B1|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 1|IIAE1|herpes simplex encephalitis, susceptibility to, 1|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 1 OMIM:610551|Orphanet:1930 owl:Class MONDO:0012956 biolink:NamedThing multiple sclerosis, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl MS2|multiple sclerosis, susceptibility to, 2 OMIM:612594 owl:Class HP:0031703 biolink:NamedThing Abnormal ear morphology Any structural anomaly of the ear. tmpaxzxjjyw_mondo_relaxed.owl 2017-12-18 00:20:14+00:00 Fyler:4867 peter human_phenotype owl:Class HGNC:2397 biolink:NamedThing CRYBB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901522 biolink:NamedThing positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus Any positive regulation of transcription from RNA polymerase II promoter that is involved in cellular response to chemical stimulus. tmpaxzxjjyw_mondo_relaxed.owl activation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|upregulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up regulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|stimulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|positive regulation of transcription from Pol II promoter involved in cellular response to chemical stimulus|stimulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|activation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|up-regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|upregulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus|positive regulation of global transcription from Pol II promoter involved in cellular response to chemical stimulus|up-regulation of global transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus owl:Class MONDO:0001300 biolink:NamedThing autonomic neuropathy An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities. tmpaxzxjjyw_mondo_relaxed.owl autonomic nervous system peripheral neuropathy|autonomic peripheral neuropathy|peripheral neuropathy of autonomic nervous system NCIT:C27033|CSP:2049-9000|CSP:2042-2001|SCTID:277879009|DOID:11504|UMLS:C0259749|DOID:0060054 owl:Class MONDO:0011198 biolink:NamedThing spondyloepimetaphyseal dysplasia, Missouri type Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood. tmpaxzxjjyw_mondo_relaxed.owl spondyloepimetaphyseal dysplasia type 2|SEMD, Missouri type|metaphyseal anadysplasia 1|Missouri type of spondyloepimetaphyseal dysplasia|SEMD Missouri type|spondyloepimetaphyseal dysplasia Missouri type|SEMD type 2|spondyloepimetaphyseal dysplasia, Missouri type Orphanet:93356|OMIM:602111|Orphanet:1040|ICD10:Q77.7|DOID:0080030|GARD:0010618|SCTID:719171005 https://rarediseases.info.nih.gov/diseases/10618/spondyloepimetaphyseal-dysplasia-missouri-type owl:Class MONDO:0013243 biolink:NamedThing neuronopathy, distal hereditary motor, type 2C Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene. tmpaxzxjjyw_mondo_relaxed.owl HSPB3 neuronopathy, distal hereditary motor|neuronopathy, distal hereditary motor, type IIC|neuronopathy, distal hereditary motor caused by mutation in HSPB3|HMN2C|HMN 2C|neuropathy, distal hereditary motor, type 2C Orphanet:139525|UMLS:C3150619|DOID:0111209|OMIM:613376 owl:Class HP:0001943 biolink:NamedThing Hypoglycemia A decreased concentration of glucose in the blood. tmpaxzxjjyw_mondo_relaxed.owl Hypoglycaemia|Low blood sugar SNOMEDCT_US:302866003|MSH:D007003|SNOMEDCT_US:271327008|UMLS:C0020615|SNOMEDCT_US:237630007 HP:0003356 human_phenotype owl:Class HP:0011015 biolink:NamedThing Abnormal blood glucose concentration An abnormality of the concentration of glucose in the blood. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of blood glucose concentration UMLS:C4023597 peter 2011-02-21T10:41:13Z human_phenotype owl:Class MONDO:0017364 biolink:NamedThing POEMS syndrome POEMS syndrome is a paraneoplastic syndrome characterized by polyradiculoneuropathy (P), organomegaly (O), endocrinopathy (E), clonal plasma cell disorder (M), and skin changes (S). Other features include papilledema, extravascular volume overload, sclerotic bone lesions, thrombocytosis/erythrocytosis, and elevated VEGF levels. tmpaxzxjjyw_mondo_relaxed.owl Takatsuki syndrome|polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes syndrome|polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome|osteosclerotic myeloma|polyneuropathy organomegaly|POEMS syndrome|PEP syndrome|Crow-Fukase syndrome UMLS:C0085404|MESH:D016878|SCTID:79268002|Orphanet:2905|DOID:14039|MedDRA:10053869|NCIT:C80303|EFO:1001115|ICD10:D47.7|GARD:0007411 POEMS syndrome is associated with plasmacytomas and osteosclerotic lesions. The etiologic factors of this constellation of diseases are not well defined, but radiation therapy to localized lesions is often of benefit, and there is a report that autologous hematopoetic cell transplantation benefited a patient with refractory disease. owl:Class MONDO:0018215 biolink:NamedThing paraneoplastic neurologic syndrome A paraneoplastic syndrome that involves the nervous system. tmpaxzxjjyw_mondo_relaxed.owl PNS|paraneoplastic cerebellar degeneration|nervous system paraneoplastic syndrome|PCD|paraneoplastic syndrome of nervous system ICD9:331.89|GARD:0007326|MedDRA:10072106|Orphanet:36388|SCTID:192877007 owl:Class MONDO:0032621 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 16 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16|MC1DN16 OMIM:618238 owl:Class GO:0050768 biolink:NamedThing negative regulation of neurogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. tmpaxzxjjyw_mondo_relaxed.owl downregulation of neurogenesis|inhibition of neurogenesis|down-regulation of neurogenesis|down regulation of neurogenesis owl:Class MONDO:0004151 biolink:NamedThing spinal meninges cancer A malignant neoplasm involving the meninx of spinal cord. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of spinal meninges|malignant meninx of spinal cord neoplasm|malignant neoplasm of meninx of spinal cord|meninx of spinal cord cancer|cancer of meninx of spinal cord DOID:7224|ICD10:C70.1|ICD9:192.3|SCTID:363476006|UMLS:C0153647 owl:Class UBERON:0018116 biolink:NamedThing right renal pelvis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009864 biolink:NamedThing phosphoenolpyruvate carboxykinase deficiency, mitochondrial tmpaxzxjjyw_mondo_relaxed.owl phosphoenolpyruvate carboxykinase 2 deficiency|phosphoenolpyruvate carboxykinase deficiency, mitochondrial|PCKDM|PEPCK2|PCK2 deficiency|PEPCK 2 deficiency|PEPCK2 deficiency Orphanet:79317|MESH:C564890|Orphanet:2880|UMLS:C1849821|OMIM:261650|GARD:0004279 owl:Class MONDO:0017320 biolink:NamedThing phosphoenolpyruvate carboxykinase deficiency Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder. tmpaxzxjjyw_mondo_relaxed.owl PEPCK deficiency|phosphoenolpyruvate carboxykinase (GTP) deficiency SCTID:5335002|NCIT:C99015|Orphanet:2880|MESH:C536654|ICD9:277.89|OMIM:261650|ICD10:E74.4|UMLS:C0268194|OMIM:261680 owl:Class HGNC:11067 biolink:NamedThing SLC7A9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009273 biolink:NamedThing hydatidiform mole, recurrent, 1 Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene. tmpaxzxjjyw_mondo_relaxed.owl NLRP7 complete hydatidiform mole|complete hydatidiform mole caused by mutation in NLRP7|hydatidiform MOLE, recurrent, 1|gestational trophoblastic disease|hydatidiform mole|hydatidiform Mole, recurrent, type 1|HYDM1|hydatidiform mole, recurrent, 1|hydatidiform Mole, complete OMIM:231090|UMLS:C3463897|Orphanet:99927|Orphanet:254688 owl:Class NCBITaxon:69034 biolink:NamedThing Rotaliidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:203397 biolink:NamedThing Rotaliacea tmpaxzxjjyw_mondo_relaxed.owl Rotalioidea GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011141 biolink:NamedThing megaloblastic anemia, folate-responsive tmpaxzxjjyw_mondo_relaxed.owl MEGAF|folate level in erythrocytes UMLS:C2749656|OMIM:601775 https://github.com/monarch-initiative/mondo/issues/4170 owl:Class NCBITaxon:11157 biolink:NamedThing Mononegavirales tmpaxzxjjyw_mondo_relaxed.owl negative-sense genome single-stranded RNA viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013572 biolink:NamedThing Keppen-Lubinsky syndrome tmpaxzxjjyw_mondo_relaxed.owl KPLBS|generalized lipodystrophy-progeroid features-severe intellectual disability syndrome|KEPPEN-Lubinsky syndrome|Keppen-Lubinsky syndrome UMLS:C3279800|OMIM:614098|Orphanet:435628|ICD10:E88.1 owl:Class MONDO:0001559 biolink:NamedThing perineocele tmpaxzxjjyw_mondo_relaxed.owl ICD9:618.05|ICD10:N81.81|DOID:12637 owl:Class MONDO:0001592 biolink:NamedThing prolapse of female genital organ tmpaxzxjjyw_mondo_relaxed.owl ICD9:618.8|ICD10:N81|SCTID:73998008|ICD9:618.89|UMLS:C0156349|DOID:1284 Editor note: requires review owl:Class MONDO:0010113 biolink:NamedThing thalidomide susceptibility tmpaxzxjjyw_mondo_relaxed.owl thalidomide susceptibility OMIM:273600 owl:Class ENVO:01001785 biolink:NamedThing land A surface layer of an astronomical body which is primarily composed of solid material and is not covered by oceans or other bodies of water. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6343 biolink:NamedThing KITLG tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6774 biolink:NamedThing Portunoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:29569 biolink:NamedThing LIPT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010579 biolink:NamedThing X-linked corneal dermoid X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders.No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission. tmpaxzxjjyw_mondo_relaxed.owl dermoids of cornea|Guízar Vázquez-Luengas-muñoz syndrome|Guizar-Vazquez Luengas-Munoz syndrome|CND|bilateral corneal dermoids|corneal dystrophy epithelial-short stature syndrome|corneal dermoids and short stature Orphanet:1661|SCTID:715426004|UMLS:C1844671|ICD10:Q13.4|GARD:0002580|OMIM:304730|MESH:C535376 https://rarediseases.info.nih.gov/diseases/2580/dermoids-of-cornea owl:Class MONDO:0014028 biolink:NamedThing distal arthrogryposis type 5D Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature. tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis, distal, type 5D|distal arthrogryposis caused by mutation in ECEL1|distal arthrogryposis type 5 without ophthalmoplegia|distal arthrogryposis type 5 without ophthalmoparesis|ECEL1 distal arthrogryposis|DA5D ICD10:Q68.8|OMIM:615065|GARD:0013059|Orphanet:329457|UMLS:C3554415|DOID:0111594 https://rarediseases.info.nih.gov/diseases/13059/distal-arthrogryposis-type-5d owl:Class MONDO:0000659 biolink:NamedThing delta-heavy chain disease A heavy chain disease that results from an overproduction of delta antibody (IgD). tmpaxzxjjyw_mondo_relaxed.owl delta chain disease|delta heavy chain disease|IgD heavy chain disease DOID:0060129|SCTID:20224008|ICD9:203.80|UMLS:C0272253 owl:Class MONDO:0007045 biolink:NamedThing acrofacial dysostosis, Catania type Acrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males. tmpaxzxjjyw_mondo_relaxed.owl acrofacial dysostosis, Catania type|Opitz-Caltabiano syndrome|acrofacial dysostosis Catania type|AFD Catania type|Afd, Catania type|Opitz Mollica Sorge syndrome ICD10:Q75.4|UMLS:C2931762|SCTID:720419000|MESH:C538182|Orphanet:1786|DOID:0060384|GARD:0000494|OMIM:101805 owl:Class MONDO:0002564 biolink:NamedThing jejunal neoplasm A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the jejunum|jejunum neoplasm|tumor of jejunum|jejunum tumor|tumor of the jejunum|neoplasm of jejunum|jejunal tumor|jejunum neoplasm (disease) MESH:D007580|DOID:3218|NCIT:C8401|SCTID:126834003|UMLS:C0022374 owl:Class MONDO:0005094 biolink:NamedThing hemangiopericytoma An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces. tmpaxzxjjyw_mondo_relaxed.owl haemangiopericytic meningioma [obs]|malignant hemangiopericytoma|hemangiopericytoma|hemangiopericytoma, malignant (morphologic abnormality)|haemangiopericytic meningioma NCIT:C3087|SCTID:134335004|DOID:264|ICDO:9150/1|MESH:D006393 owl:Class MONDO:0008439 biolink:NamedThing spastic paraplegia-epilepsy-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia epilepsy intellectual disability|SPEMR|spastic paraplegia, epilepsy, and mental retardation|spastic paraplegia, epilepsy, and intellectual disability|spemr|spastic paraplegia epilepsy mental retardation OMIM:182610|Orphanet:2816|ICD10:G11.4|GARD:0004915|MESH:C536869|UMLS:C1866854 Editor note: TODO fix GARD spelling owl:Class MONDO:0034216 biolink:NamedThing resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha tmpaxzxjjyw_mondo_relaxed.owl resistance to thyroid hormone alpha Orphanet:566231 owl:Class MONDO:0019856 biolink:NamedThing primary congenital hypothyroidism without thyroid developmental anomaly Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism in which the thyroid gland is anatomically normal. tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 ICD10:E03.0|Orphanet:95714|ICD10:E03.1 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary congenital hypothyroidism' MONDO_0016409 owl:Class MONDO:0030057 biolink:NamedThing neurodevelopmental, jaw, eye, and digital syndrome tmpaxzxjjyw_mondo_relaxed.owl NEDJED|NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME|neurodevelopmental, jaw, eye, and digital syndrome OMIM:618914 owl:Class GO:0032410 biolink:NamedThing negative regulation of transporter activity Any process that stops or reduces the activity of a transporter. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of transporter activity|down regulation of transporter activity|downregulation of transporter activity|inhibition of transporter activity owl:Class MONDO:0024621 biolink:NamedThing serous cystadenocarcinoma A malignant serous cystic neoplasm usually involving the ovary or the pancreas. It is characterized by the presence of invasive malignant glandular epithelial cells which often form papillary structures. tmpaxzxjjyw_mondo_relaxed.owl serous adenocarcinoma|serous cystadenocarcinoma UMLS:C0206701|NCIT:C3778|ICDO:8441/3 owl:Class NCBITaxon:1639 biolink:NamedThing Listeria monocytogenes tmpaxzxjjyw_mondo_relaxed.owl Bacterium monocytogenes hominis|Corynebacterium parvulum|Erysipelothrix monocytogenes|Listerella hepatolytica|Corynebacterium infantisepticum|Bacterium monocytogenes PMID:17773427|PMID:1906732|GC_ID:11|PMID:8782698 NCBITaxon:2486736|NCBITaxon:2364651|NCBITaxon:2482736|NCBITaxon:2485089|NCBITaxon:2482749|NCBITaxon:2482744|NCBITaxon:2364659|NCBITaxon:2482745|NCBITaxon:2482747|NCBITaxon:2486741|NCBITaxon:2485092|NCBITaxon:2293541|NCBITaxon:2486739|NCBITaxon:2293546|NCBITaxon:2364654|NCBITaxon:2485091|NCBITaxon:2485090|NCBITaxon:2486735|NCBITaxon:2482742|NCBITaxon:2364660|NCBITaxon:2485083|NCBITaxon:2364658|NCBITaxon:2293542|NCBITaxon:2364656|NCBITaxon:2293545|NCBITaxon:2486737|NCBITaxon:2482738|NCBITaxon:2482746|NCBITaxon:2364653|NCBITaxon:2293547|NCBITaxon:2482739|NCBITaxon:2486734|NCBITaxon:2482743|NCBITaxon:2485095|NCBITaxon:2482740|NCBITaxon:2293544|NCBITaxon:2484858|NCBITaxon:2364652|NCBITaxon:2484857|NCBITaxon:2482737|NCBITaxon:2485096|NCBITaxon:2293540|NCBITaxon:2486740|NCBITaxon:1634566|NCBITaxon:2482748|NCBITaxon:2486738|NCBITaxon:2485084|NCBITaxon:2485093|NCBITaxon:2482733|NCBITaxon:2485085|NCBITaxon:2482741|NCBITaxon:2485094|NCBITaxon:2485087|NCBITaxon:2293543|NCBITaxon:2486733|NCBITaxon:2364655|NCBITaxon:2485086|NCBITaxon:2364657|NCBITaxon:2486732|NCBITaxon:2485088|NCBITaxon:2482735|NCBITaxon:2293539|NCBITaxon:2485082|NCBITaxon:2482734 ncbi_taxonomy owl:Class NCBITaxon:1637 biolink:NamedThing Listeria tmpaxzxjjyw_mondo_relaxed.owl Listerella PMID:8427807|PMID:1899799|PMID:1713054|PMID:9226919|PMID:9542083|GC_ID:11|PMID:8782674|PMID:15709360|PMID:10408878 ncbi_taxonomy owl:Class MONDO:0007827 biolink:NamedThing inclusion body myositis Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features. tmpaxzxjjyw_mondo_relaxed.owl sporadic inclusion body myositis|Nonaka myopathy|HIBM|IBM2|IBM-3|distal myopathy with rimmed vacuoles|inclusion body myopathy 3|distal myopathy with rimmed vacuoles (DMRV)|inflammatory myopathy|IBM|inclusion body myopathy 2|inclusion body myositis|hereditary inclusion body myopathy|Ibm|sIBM ICD10:M60.8|SCTID:72315009|Orphanet:611|OMIM:147421|EFO:0007323|UMLS:C0238190|NCIT:C84786|GARD:0003896|DOID:3429|ICD9:729.1|OMIM:605637|MedDRA:10066407|OMIM:605820|MESH:D018979|ICD10:G72.41|ICD9:359.71 owl:Class GO:1903788 biolink:NamedThing positive regulation of glutathione biosynthetic process Any process that activates or increases the frequency, rate or extent of glutathione biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl activation of glutathione biosynthetic process|positive regulation of glutathione synthesis|up regulation of glutathione synthesis|up regulation of glutathione biosynthesis|up-regulation of glutathione formation|activation of glutathione synthesis|upregulation of glutathione anabolism|activation of glutathione biosynthesis|up-regulation of glutathione biosynthetic process|upregulation of glutathione biosynthesis|upregulation of glutathione synthesis|up-regulation of glutathione biosynthesis|positive regulation of glutathione anabolism|upregulation of glutathione formation|upregulation of glutathione biosynthetic process|up regulation of glutathione anabolism|positive regulation of glutathione formation|up regulation of glutathione biosynthetic process|activation of glutathione formation|activation of glutathione anabolism|up-regulation of glutathione synthesis|positive regulation of glutathione biosynthesis|up regulation of glutathione formation|up-regulation of glutathione anabolism owl:Class MONDO:0015776 biolink:NamedThing rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth. tmpaxzxjjyw_mondo_relaxed.owl chondrodysplasia punctata, rhizomelic form|rhizomelic dwarfism|rhizomelic chondrodysplasia punctata syndrome|RCDP|rhizomelic chondrodysplasia punctata MESH:D018902|SCTID:56692003|OMIM:222765|UMLS:C0282529|Orphanet:177|OMIM:616716|ICD10:Q77.3|DOID:2580|OMIMPS:215100|OMIM:600121|NCIT:C85047|OMIM:215100|GARD:0013160|ICD10:E71.540 https://rarediseases.info.nih.gov/diseases/13160/rhizomelic-chondrodysplasia-punctata owl:Class MONDO:0019527 biolink:NamedThing undifferentiated connective tissue syndrome An autoimmune disorder which does not meet classification criteria used to establish the presence of other well-defined connective tissue diseases. tmpaxzxjjyw_mondo_relaxed.owl UCTD|undifferentiated connective tissue disease NCIT:C116776|MedDRA:10071575|SCTID:239918008|Orphanet:90002|UMLS:C0409999|ICD10:M35.8 owl:Class MONDO:0009848 biolink:NamedThing dissecting cellulitis of the scalp Dissecting cellulitis of the scalp is a rare chronic suppurative dermatosis of the scalp that mainly affects black men and that is characterized by multiple painful inflammatory follicular and perifollicular nodules, pustules, and abscesses that interconnect via sinus tracts and eventually result in scarring alopecia. tmpaxzxjjyw_mondo_relaxed.owl perifolliculitis capitis ABSCEDENS ET SUFFODIENS, familial|dissecting cellulitis of the scalp UMLS:C0263506|SCTID:77333008|GARD:0001883|MedDRA:10056961|OMIM:260910|ICD10:L08.8|MESH:C562486|Orphanet:345|ICD9:704.8 https://rarediseases.info.nih.gov/diseases/1883/dissecting-cellulitis-of-the-scalp owl:Class HGNC:905 biolink:NamedThing AXL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001686 biolink:NamedThing anatomical narrow angle borderline glaucoma tmpaxzxjjyw_mondo_relaxed.owl ICD9:365.02|DOID:13327 owl:Class MONDO:0000975 biolink:NamedThing lipoma of spermatic cord A benign adipose tissue neoplasm of the spermatic cord. This is the most common tumor amongst the benign paratesticular lesions. tmpaxzxjjyw_mondo_relaxed.owl lipoma of the spermatic cord|spermatic cord lipoma|lipoma of spermatic cord SCTID:93162007|DOID:10206|UMLS:C0153972|NCIT:C3606|ICD9:214.4 owl:Class MONDO:0011194 biolink:NamedThing Alzheimer disease 5 tmpaxzxjjyw_mondo_relaxed.owl Alzheimer disease 5|AD5|Alzheimer's disease 5|Alzheimer disease, familial, 5|Alzheimer disease, familial 5|Alzheimer disease type 5|Ad5|Alzheimer's disease type 5 UMLS:C1865868|OMIM:602096|ICD10:G30|MESH:C566578|DOID:0110037 owl:Class MONDO:0001737 biolink:NamedThing tetanus neonatorum A syndrome of generalized rigidity with muscle spasms and seizures in the neonatal period resulting from Clostridium tetani toxin production. tmpaxzxjjyw_mondo_relaxed.owl neonatal tetanus SCTID:43424001|DOID:13521|ICD9:771.3|NCIT:C116814|ICD10:A33|UMLS:C0343312 owl:Class MONDO:0021512 biolink:NamedThing benign neoplasm of thymus A benign neoplasm that involves the thymus. tmpaxzxjjyw_mondo_relaxed.owl benign Thymus neoplasm|benign neoplasm of the Thymus|benign tumor of Thymus|benign tumor of the Thymus|benign thymic neoplasm|benign Thymus tumor|benign thymic tumor|thymus benign neoplasm NCIT:C4458|ICD10:D15.0|ICD9:212.6|SCTID:92437008|UMLS:C0345975 owl:Class MONDO:0000627 biolink:NamedThing benign endocrine neoplasm A non-metastasizing, functioning or non-functioning neoplasm that arises from an endocrine organ. Representative examples include thyroid gland follicular adenoma and parathyroid gland adenoma. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of endocrine gland|benign endocrine tumor|benign endocrine gland tumor|benign endocrine neoplasm|benign tumor of the endocrine gland|benign neoplasm of the endocrine gland|benign neoplasm of endocrine gland|endocrine organ benign neoplasm|benign endocrine gland neoplasm|endocrine gland benign neoplasm ICD9:227.8|SCTID:92085000|DOID:0060089|ICD9:227.9|UMLS:C0347524|NCIT:C4621 owl:Class HGNC:568 biolink:NamedThing AP3D1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018871 biolink:NamedThing acute myelomonocytic leukemia M4 An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl AMMoL|AML M4|acute myeloblastic leukemia type 4|acute M4 myeloid leukemia|acute myelomonocytic leukemia (FAB type M4)|AMML|acute myelomonocytic leukemia|AML-M4 NCIT:C7463|Orphanet:517|EFO:0000223|GARD:0000529|ONCOTREE:AMML|UMLS:C0023479|MedDRA:10000890|SCTID:110005000|ICD10:C92.5|ICDO:9867/3 https://rarediseases.info.nih.gov/diseases/529/acute-myelomonocytic-leukemia owl:Class NCBITaxon:169449 biolink:NamedThing Coelopinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:169440 biolink:NamedThing Coelopidae tmpaxzxjjyw_mondo_relaxed.owl seaweed flies|kelp flies GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002698 biolink:NamedThing testicular gonadoblastoma A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells. tmpaxzxjjyw_mondo_relaxed.owl testicular gonadoblastoma (disease)|testis gonadoblastoma|testicular gonadoblastoma|gonadoblastoma of testis testicular gonadoblastoma (disease) HP:0000030|DOID:3579|UMLS:C1515283|NCIT:C39911 owl:Class MONDO:0004847 biolink:NamedThing senile cataract A cataract with no obvious cause occurring in persons over 50 years old. tmpaxzxjjyw_mondo_relaxed.owl DOID:9669|SCTID:39450006|ICD10:H25|ICD9:366.1|ICD9:366.10|NCIT:C35012 owl:Class MONDO:0024469 biolink:NamedThing chondrogenic neoplasm A benign, intermediate, or malignant cartilaginous matrix-producing neoplasm. Representative examples include osteochondroma, chondroblastoma, and chondrosarcoma. tmpaxzxjjyw_mondo_relaxed.owl chondrogenic neoplasm|cartilaginous tumor|chondrogenic tumor|tumor of cartilage|cartilaginous neoplasm|tumor of the cartilage|neoplasm of cartilage|chondromatous tumor|neoplasm of the cartilage|chondromatous neoplasm UMLS:C0476147|NCIT:C4755 owl:Class MONDO:0005838 biolink:NamedThing mansonelliasis A parasitic infection caused by the nematode Mansonella. Signs and symptoms include pruritus, headache, fever, arthralgias, and eosinophilia. tmpaxzxjjyw_mondo_relaxed.owl Mansonella perstans infections|Mansonellosis ICD10:B74.4|MESH:D008368|NCIT:C84882|DOID:1081|SCTID:240849009|EFO:0007357|UMLS:C0024759|GARD:0008216|Orphanet:2459 https://rarediseases.info.nih.gov/diseases/8216/mansonelliasis owl:Class MONDO:0000524 biolink:NamedThing mixed extragonadal germ cell cancer A mixed germ cell cancer that is located in areas of the body other than the ovary or testicle. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050907 owl:Class MONDO:0005788 biolink:NamedThing hepatitis E virus infection Acute inflammation of the liver in humans; caused by hepatitis E virus, a non-enveloped single-stranded rna virus. Similar to hepatitis A, its incubation period is 15-60 days and is enterically transmitted, usually by fecal-oral transmission. tmpaxzxjjyw_mondo_relaxed.owl hepatitis type E|Hepatitis E virus caused hepatitis|Hepatitis E virus hepatitis UMLS:C0085293|SCTID:7111000119109|GARD:0009541|DOID:4411|EFO:0007303|MESH:D016751 https://rarediseases.info.nih.gov/diseases/9541/hepatitis-e owl:Class MONDO:0006841 biolink:NamedThing lymphangioendothelioma A lymphangioma characterized by the presence of collagen bundle formation. It has an indolent clinical course and may be associated with skin plaques. tmpaxzxjjyw_mondo_relaxed.owl acquired progressive lymphangioma EFO:1001026|MESH:D008202|SCTID:403975006|NCIT:C3203 owl:Class MONDO:0000650 biolink:NamedThing peritoneal benign neoplasm A non-metastasizing neoplasm that arises from the peritoneal cavity. Representative examples include adenomatoid tumor and disseminated peritoneal leiomyomatosis. tmpaxzxjjyw_mondo_relaxed.owl peritoneum benign neoplasm|benign peritoneal neoplasm DOID:0060117|NCIT:C8612|UMLS:C0496874 owl:Class MONDO:0021633 biolink:NamedThing cerebral astrocytoma An astrocytoma that arises from the cerebral hemispheres. tmpaxzxjjyw_mondo_relaxed.owl astrocytoma (excluding glioblastoma) of cerebral hemisphere|astrocytoma of cerebral hemispheres|cerebral hemisphere astrocytoma (excluding glioblastoma)|astrocytoma of the cerebral hemispheres|cerebral astrocytoma|astrocytoma of the cerebrum|cerebral hemispheric astrocytoma|astrocytoma of cerebrum SCTID:99131000119108|NCIT:C4951 owl:Class MONDO:0015519 biolink:NamedThing congenital or early infantile CACH syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:157713|OMIM:603896|ICD10:E75.2 owl:Class MONDO:0015414 biolink:NamedThing paramedian nasal cleft Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved. tmpaxzxjjyw_mondo_relaxed.owl alar cleft|isolated coloboma of the nose|alar rim cleft|isolated cleft of the ala nasi|cleft nose|Tessier number 1 cleft Orphanet:141242|ICD9:748.1|ICD10:Q18.8|SCTID:204521002 owl:Class MONDO:0016655 biolink:NamedThing 6p22 microdeletion syndrome 6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations. tmpaxzxjjyw_mondo_relaxed.owl Del(6)(p22)|monosomy 6p22 Orphanet:251046|UMLS:C4304528|UMLS:CN201884|ICD10:Q93.5|SCTID:719662000 owl:Class HGNC:2605 biolink:NamedThing CYP27A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015522 biolink:NamedThing situs ambiguus tmpaxzxjjyw_mondo_relaxed.owl partial situs inversus|situs ambiguous|incomplete situs inversus SCTID:14821001|Orphanet:157769|ICD10:Q89.3|MedDRA:10059119|GARD:0010875 owl:Class MONDO:0015424 biolink:NamedThing lethal chondrodysplasia, Moerman type tmpaxzxjjyw_mondo_relaxed.owl Moerman-Vandenberghe-Fryns syndrome|lethal chondrodysplasia Moerman type Orphanet:1420|ICD10:Q77.8|GARD:0003225|UMLS:CN199519 https://rarediseases.info.nih.gov/diseases/3225/lethal-chondrodysplasia-moerman-type owl:Class HGNC:11795 biolink:NamedThing THPO tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008362 biolink:NamedThing ragweed sensitivity tmpaxzxjjyw_mondo_relaxed.owl ragweed sensitivity OMIM:179450|MESH:C566725 owl:Class MONDO:0016297 biolink:NamedThing prelingual non-syndromic genetic hearing loss Prelingual non-syndromic genetic deafness is a rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition. tmpaxzxjjyw_mondo_relaxed.owl isolated prelingual genetic deafness|prelingual non-syndromic genetic deafness Orphanet:216445|SCTID:764098007 owl:Class MONDO:0017602 biolink:NamedThing ALK-positive anaplastic large cell lymphoma ALK-positive anaplastic large cell lymphoma (ALK+ ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the expression of a protein called anaplastic lymphoma kinase (ALK). tmpaxzxjjyw_mondo_relaxed.owl ALCL, ALK+|ALKoma|ALK-positive anaplastic large cell lymphoma|ALK+ anaplastic large cell lymphoma|ALK+ ALCL|anaplastic large cell lymphoma, ALK-positive ICDO:9714/3|NCIT:C37193|ICD10:C84.6|Orphanet:300895|UMLS:C1332079 owl:Class MONDO:0020325 biolink:NamedThing anaplastic large cell lymphoma Anaplastic large cell lymphoma (ALCL) is a rare and aggressive peripheral T-cell non-Hodgkin lymphoma, belonging to the group of CD30-positive lymphoproliferative disorders, which affects lymph nodes and extranodal sites. It is comprised of two sub-types, based on the expression of a protein called anaplastic lymphoma kinase (ALK): ALK positive and ALK negative ALCL. tmpaxzxjjyw_mondo_relaxed.owl anaplastic large cell lymphoma|Ki-1+ ALCL|Ki-1 positive anaplastic large cell lymphoma|Ki-1+ anaplastic large cell lymphoma|ALCL|CD30 Positive anaplastic large cell lymphoma|primary systemic ALCL|Ki-1 lymphoma|sACL|CD30 positive anaplastic large cell lymphoma SCTID:277637000|EFO:0003032|ONCOTREE:ALCL|ICD10:C84.6|ICD10:C84.7|HGNC:427|ICD9:200.60|GARD:0003112|MESH:D017728|NCIT:C3720|DOID:0050744|Orphanet:98841|UMLS:C0206180|ICDO:9714/3|ICD9:200.6 https://rarediseases.info.nih.gov/diseases/3112/anaplastic-large-cell-lymphoma owl:Class GO:0009887 biolink:NamedThing animal organ morphogenesis Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. tmpaxzxjjyw_mondo_relaxed.owl histogenesis and organogenesis owl:Class MONDO:0018081 biolink:NamedThing hemorrhagic fever-renal syndrome Hemorrhagic fever with renal syndrome (HFRS) is a rodent-borne potentially severe hemorrhagic disease caused by Old World Hantaviruses characterized by high fever, malaise, headache, myalgia, arthralgia, backache, abdominal pain, oliguria/renal failure and systemic hemorrhagic manifestations. tmpaxzxjjyw_mondo_relaxed.owl Hantavirosis|Hantavirus fever UMLS:CN204401|MedDRA:10023484|ICD10:A98.5+|UMLS:C2930957|Orphanet:340|ICD10:N08.0*|MESH:C535630 owl:Class HP:0012759 biolink:NamedThing Neurodevelopmental abnormality A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4022737 This term should be used to describe abnormalities with onset in the developmental period. peter 2014-04-03T12:20:28Z human_phenotype owl:Class MONDO:0000182 biolink:NamedThing congenital myasthenic syndrome with tubular aggregates A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers. tmpaxzxjjyw_mondo_relaxed.owl myasthenic syndrome, congenital, with tubular aggregates|CMS-TA OMIMPS:610542|UMLS:CN228621 owl:Class MONDO:0003366 biolink:NamedThing hydrarthrosis Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl SCTID:387637008|DOID:528|ICD9:719.00|MESH:D006833|ICD9:719.08 owl:Class GO:0002706 biolink:NamedThing regulation of lymphocyte mediated immunity Any process that modulates the frequency, rate, or extent of lymphocyte mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8028 biolink:NamedThing NTHL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002989 biolink:NamedThing benign fibrous histiocytoma A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage. tmpaxzxjjyw_mondo_relaxed.owl fibroxanthoma NOS (morphologic abnormality)|fibroxanthoma|fibrous histiocytoma NOS (morphologic abnormality)|benign fibrous histiocytoma (morphologic abnormality)|fibrous histiocytoma|benign fibrous histiocytoma|histiocytoma, fibrous, benign NCIT:C3739|ICDO:8830/0|UMLS:C0206644|DOID:4415|MESH:D018219 owl:Class MONDO:0014071 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene. tmpaxzxjjyw_mondo_relaxed.owl MDDGA11|B3GALNT2 muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11|muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2|Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related Orphanet:899|Orphanet:588|UMLS:C3554638|DOID:0111230|OMIM:615181 owl:Class MONDO:0010420 biolink:NamedThing X-linked erythropoietic protoporphyria X-linked form of erythropoietic protoporphyria. tmpaxzxjjyw_mondo_relaxed.owl X-linked dominant erythropoietic protoporphyria|erythropoietic protoporphyria, X-linked|XLPP|X-linked dominant protoporphyria|Erythrohepatic protoporphyria, X-linked|XLEPP|XLP|protoporphyria, erythropoietic, X-linked dominant|XLDPP|protoporphyria, erythropoietic, X-linked Orphanet:443197|MESH:C567464|OMIM:300752|GARD:0010915|ICD10:E80.0|Orphanet:79278 owl:Class CHEBI:35820 biolink:NamedThing antiprotozoal drug Any antimicrobial drug which is used to treat or prevent protozoal infections. tmpaxzxjjyw_mondo_relaxed.owl antiprotozoal agents|antiprotozoal agent|antiprotozoal drugs owl:Class MONDO:0018383 biolink:NamedThing osteonecrosis of genetic origin An instance of osteonecrosis that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl bone necrosis of genetic origin|genetic osteonecrosis ICD10:M93.9|Orphanet:399380 owl:Class MONDO:0019945 biolink:NamedThing solar urticaria Solar urticaria (SU) is a rare and difficult to treat photosensitive disease, in which local skin swelling occurs within minutes of exposure to natural sunlight or even artificial light sources emitting ultraviolet radiation. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10041307|Orphanet:97230|ICD10:L56.3|SCTID:10347006|UMLS:C0263610|ICD9:708.8 owl:Class UBERON:0006173 biolink:NamedThing pronephric proximal tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005310 biolink:NamedThing pronephric nephron tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000119 biolink:NamedThing cell layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014659 biolink:NamedThing infantile liver failure syndrome 2 Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene. tmpaxzxjjyw_mondo_relaxed.owl infantile liver failure syndrome type 2|infantile liver failure syndrome 2|infantile liver failure caused by mutation in NBAS|NBAS infantile liver failure|ILFS2 UMLS:CN232144|GARD:0013113|OMIM:616483 owl:Class MONDO:0005006 biolink:NamedThing clear cell sarcoma of kidney A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. It is associated with internal tandem duplications in the BCOR gene. It metastasizes to lung, bone, brain and soft tissue. tmpaxzxjjyw_mondo_relaxed.owl pediatric kidney clear cell sarcoma|clear cell sarcoma - kidney|kidney clear cell sarcoma|pediatric renal clear cell sarcoma|clear cell sarcoma of the kidney|childhood kidney clear cell sarcoma|childhood clear cell sarcoma of the kidney|childhood renal clear cell sarcoma|renal clear cell sarcoma|CCSK|clear cell sarcoma of kidney NCIT:C4264|EFO:0000350|ICDO:8964/3|DOID:4880|ICD10:C64|ONCOTREE:CCSK|Orphanet:457246|UMLS:C0334488|UMLS:CN242113 owl:Class HGNC:24783 biolink:NamedThing LRIT3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003688 biolink:NamedThing well differentiated papillary mesothelioma A localized or multifocal mesothelioma arising from the peritoneum and less often the pleura. Cases arising from the peritoneum predominantly occur in women. It is characterized by the formation of papillae, covered by a single layer of blunt mesothelial cells. Mitotic figures are not present. There is no evidence of severe cytologic atypia. It has a relatively favorable clinical outcome, compared to malignant mesothelioma. tmpaxzxjjyw_mondo_relaxed.owl WDPM|well-differentiated papillary tumor of the mesothelium|benign/Intermediate mesothelioma|well-differentiated mesothelial papillary neoplasm|well-differentiated papillary tumor of mesothelium|well-differentiated mesothelial papillary tumor|benign intermediate mesothelioma|well-differentiated papillary neoplasm of mesothelium|well-differentiated papillary neoplasm of the mesothelium|well differentiated papillary mesothelioma UMLS:C1337012|ICDO:9052/1|DOID:5884|NCIT:C7635 owl:Class MONDO:0009192 biolink:NamedThing Wolcott-Rallison syndrome Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure. tmpaxzxjjyw_mondo_relaxed.owl Med-Iddm syndrome|WRS|Wolcott Rallison syndrome|early-onset diabetes mellitus with multiple epiphyseal dysplasia|MED-IDDM syndrome|Iddm-Med syndrome|epiphyseal dysplasia multiple with early-onset diabetes mellitus|epiphyseal dysplasia, multiple, with early-onset diabetes mellitus|IDDM-MED syndrome|Wolcott-Rallison syndrome SCTID:254066006|GARD:0005589|MESH:C536739|Orphanet:1667|NCIT:C131007|DOID:0090060|ICD10:E13|OMIM:226980|UMLS:C0432217 https://rarediseases.info.nih.gov/diseases/5589/epiphyseal-dysplasia-multiple-with-early-onset-diabetes-mellitus owl:Class MONDO:0004653 biolink:NamedThing atypical chronic myeloid leukemia, BCR-ABL1 negative A myelodysplastic/myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl atypical chronic myeloid leukemia|atypical chronic myeloid leukemia, BCR-ABL1 Negative|subacute myelogenous leukemia|subacute myeloid leukemia|subacute granulocytic leukemia|aCML|atypical CML SCTID:277589003|NCIT:C3519|DOID:8747|ICDO:9876/3 owl:Class MONDO:0004555 biolink:NamedThing kidney angiomyolipoma An angiomyolipoma arising from the kidney. tmpaxzxjjyw_mondo_relaxed.owl renal angiomyolipoma|kidney angiomyolipoma|RAML|angiomyolipoma of kidney|angiomyolipoma of the kidney UMLS:C0241961|NCIT:C3888|EFO:1000312|DOID:8411|SCTID:254921004|ONCOTREE:RAML owl:Class MONDO:0003041 biolink:NamedThing pediatric mesenchymal chondrosarcoma A mesenchymal chondrosarcoma occurring in children. tmpaxzxjjyw_mondo_relaxed.owl pediatric mesenchymal chondrosarcoma|childhood mesenchymal chondrosarcoma|mesenchymal chondrosarcoma of childhood|mesenchymal chondrosarcoma NCIT:C27374|DOID:4546|UMLS:C1332982 owl:Class MONDO:0014324 biolink:NamedThing pachyonychia congenita 3 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene. tmpaxzxjjyw_mondo_relaxed.owl KRT6A pachyonychia congenita|pachyonychia congenita type 3|pachyonychia congenita 3|pachyonychia congenita caused by mutation in KRT6A|PC3 Orphanet:2309|UMLS:C3714948|OMIM:615726 owl:Class ENVO:01000295 biolink:NamedThing marine layer A layer that is part of a marine water body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001694 biolink:NamedThing decreased viscosity A viscosity which relatively low. tmpaxzxjjyw_mondo_relaxed.owl low viscosity owl:Class GO:0097659 biolink:NamedThing nucleic acid-templated transcription The cellular synthesis of RNA on a template of nucleic acid (DNA or RNA). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032774 biolink:NamedThing RNA biosynthetic process The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. tmpaxzxjjyw_mondo_relaxed.owl RNA anabolism|RNA biosynthesis|RNA formation|RNA synthesis owl:Class MONDO:0001725 biolink:NamedThing balanitis xerotica obliterans A chronic and progressive inflammatory process that affects the glans penis and the foreskin. It presents with white atrophic patches in the glans of penis and foreskin and it is often associated with the development of a sclerotic, whitish ring in the tip of the foreskin that may lead to phimosis. It is also known as lichen sclerosus of the penis. tmpaxzxjjyw_mondo_relaxed.owl lichen Sclerosus of penis|penile lichen Sclerosus|lichen Sclerosus of the penis DOID:13477|ICD9:607.81|SCTID:198033005|UMLS:C0152460|NCIT:C3523 owl:Class HGNC:4824 biolink:NamedThing HBA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100398 biolink:NamedThing acute myeloid leukemia, inv(3)(q21.3;q26.2) Any acute myeloid leukemia that has the chromosomal anomaly inv(3)(q21.3;q26.2). (A cytogenetic abnormality that refers to a paracentric inversion involving breakpoints on the long (q23.1 and q26.2) of chromosome 3. It is associated with acute myeloid leukemia.) tmpaxzxjjyw_mondo_relaxed.owl AML, inv(3)(q21.3q26.2)|AML, inv(3)(q21.3;q26.2)|AML, inv(3)(q21q26.2) NCIT:C122716|NCIT:C36407 owl:Class MONDO:0014810 biolink:NamedThing pancytopenia due to IKZF1 mutations Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene. tmpaxzxjjyw_mondo_relaxed.owl syndrome with combined immunodeficiency caused by mutation in IKZF1|Cid due to IKAROS deficiency|CVID13|immunodeficiency, common variable, 13|immunodeficiency, common variable, type 13|IKZF1 syndrome with combined immunodeficiency|combined immunodeficiency due to IKAROS deficiency UMLS:C4225173|ICD10:D81.8|Orphanet:317473|OMIM:616873 owl:Class HP:0100526 biolink:NamedThing Neoplasm of the lung Tumor of the lung. tmpaxzxjjyw_mondo_relaxed.owl Lung tumor|Lung tumour|Lung cancer SNOMEDCT_US:126713003|NCIT:C3262|MSH:D008175|UMLS:C0024121 doelkens 2010-12-20T11:47:12Z human_phenotype owl:Class HP:0002088 biolink:NamedThing Abnormal lung morphology Any structural anomaly of the lung. tmpaxzxjjyw_mondo_relaxed.owl Lung disease|Abnormality of the lungs|Abnormality of lung structure|Unusal lung shape|Abnormally shaped lung UMLS:C4021760|UMLS:C0024115|MSH:D008171|SNOMEDCT_US:19829001 human_phenotype owl:Class MONDO:0008099 biolink:NamedThing congenital stationary night blindness autosomal dominant 2 Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene. tmpaxzxjjyw_mondo_relaxed.owl night blindness, congenital stationary, Rambusch type|Rambusch type congenital stationary night blindness|congenital stationary night blindness caused by mutation in PDE6B|CSNBAD2|PDE6B congenital stationary night blindness|night blindness, congenital stationary, autosomal dominant type 2|congenital stationary night blindness autosomal dominant type 2|night blindness, congenital stationary, autosomal dominant 2 Orphanet:215|OMIM:163500|MESH:C566869|UMLS:C1876182|DOID:0110863 owl:Class HGNC:5959 biolink:NamedThing ELP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002923 biolink:NamedThing uterine corpus endometrial stromal sarcoma A uterine corpus sarcoma originating from the endometrial stroma. It is further subdivided into low grade and high grade endometrial stromal sarcoma. tmpaxzxjjyw_mondo_relaxed.owl uterine corpus endometrial stromal sarcoma|body of uterus endometrioid stromal sarcoma|uterine corpus ess|uterine corpus endometrial stromal tumor|endometrioid stromal sarcoma of body of uterus|body of uterus endometrial stromal sarcoma UMLS:C1519849|NCIT:C40219|DOID:4227 owl:Class MONDO:0019820 biolink:NamedThing univentricular cardiopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:95483 owl:Class NCIT:C36887 biolink:NamedThing Neoplastic Connective and Soft Tissue Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C36843 biolink:NamedThing Abnormal Connective and Soft Tissue Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018029 biolink:NamedThing congenital factor XIII deficiency Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies. tmpaxzxjjyw_mondo_relaxed.owl factor XIII deficiency|fibrin-stabilizing factor deficiency|factor XIII deficiency disease|fibrin stabilizing factor deficiency|deficiency, Laki-Lorand factor|hereditary factor XIII deficiency disease SCTID:50189006|OMIM:613225|OMIM:613235|ICD10:D68.2|DOID:2211|GARD:0010766|MESH:D005177|ICD9:286.3|NCIT:C131633|Orphanet:331 owl:Class GO:1905082 biolink:NamedThing regulation of mitochondrial translational elongation Any process that modulates the frequency, rate or extent of mitochondrial translational elongation. tmpaxzxjjyw_mondo_relaxed.owl regulation of mitochondrial translation elongation owl:Class MONDO:0003194 biolink:NamedThing hemangioma of lung A hemangioma that involves the lung. tmpaxzxjjyw_mondo_relaxed.owl pulmonary hemangioma|lung hemangioma DOID:490 owl:Class HGNC:7490 biolink:NamedThing MT-TL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022461 biolink:NamedThing anophthalmia cleft palate micrognathia A syndrome characterized by bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000715 https://rarediseases.info.nih.gov/diseases/715/anophthalmia-cleft-palate-micrognathia owl:Class MONDO:0001244 biolink:NamedThing vitamin K deficiency hemorrhagic disease Deficiency of vitamin K. It may lead to bleeding, manifested with ecchymoses, petechiae, and hematomas. In infants it may cause hemorrhagic disease of newborn with intracranial and retroperitoneal bleeding. tmpaxzxjjyw_mondo_relaxed.owl vitamin K deficiency|vitamin K deficiency coagulation disorder|deficiency of vitamin K ICD9:269.0|UMLS:C0272348|MESH:D014813|ICD10:E56.1|DOID:11249|SCTID:52675005|NCIT:C99108|UMLS:C0042880 owl:Class MONDO:0018251 biolink:NamedThing glycogen storage disease due to phosphorylase kinase deficiency A group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency. tmpaxzxjjyw_mondo_relaxed.owl GSD IX|glycogen storage disease due to PhK deficiency|GSD type IX|GSD due to phosphorylase kinase deficiency|glycogen storage disease type 9|glycogenosis type IX|phosphorylase kinase deficiency|glycogen storage disease IX|gycogenosis due to PhK deficiency|glycogen storage disease type IX|glycogenosis due to phosphorylase kinase deficiency|GSD type 9|GSDIX|glycogenosis type 9 2022-03-01 DOID:0050594|UMLS:C0268147|SCTID:40191005|NCIT:C122662|MESH:C580130|Orphanet:370|ICD10:E74.0|SCTID:235908005 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: glycogen storage disease' MONDO_0002412 owl:Class GO:0009144 biolink:NamedThing purine nucleoside triphosphate metabolic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine nucleoside triphosphate metabolism owl:Class GO:0009141 biolink:NamedThing nucleoside triphosphate metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl nucleoside triphosphate metabolism owl:Class MONDO:0001204 biolink:NamedThing esophagus sarcoma A malignant soft tissue neoplasm that arises from the esophagus. Representative examples include Kaposi sarcoma, leiomyosarcoma, rhabdomyosarcoma, and synovial sarcoma. tmpaxzxjjyw_mondo_relaxed.owl esophagus sarcoma|sarcoma of the esophagus|sarcoma of esophagus|sarcoma, esophagus|esophageal sarcoma NCIT:C5341|UMLS:C1333466|DOID:1114 owl:Class MONDO:0016726 biolink:NamedThing neuronal tumor tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201974|Orphanet:251924 owl:Class GO:0090031 biolink:NamedThing positive regulation of steroid hormone biosynthetic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009821 biolink:NamedThing lethal osteosclerotic bone dysplasia Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. tmpaxzxjjyw_mondo_relaxed.owl combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis|RNS|RAINE syndrome|osteosclerotic bone dysplasia, lethal|lethal osteosclerotic bone dysplasia|Raine syndrome MESH:C535282|Orphanet:1832|OMIM:259775|ICD10:Q78.2|UMLS:C1850106|GARD:0000282 owl:Class UBERON:0008837 biolink:NamedThing palmar/plantar part of autopod tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009058 biolink:NamedThing biosynthetic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. tmpaxzxjjyw_mondo_relaxed.owl biosynthesis|formation|multicellular organismal biosynthetic process|synthesis|anabolism|single-organism biosynthetic process owl:Class UBERON:0005012 biolink:NamedThing mucosa of left uterine tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012421 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 44 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene. tmpaxzxjjyw_mondo_relaxed.owl ADCY1 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in ADCY1|DFNB44|autosomal recessive nonsyndromic deafness type 44|autosomal recessive deafness 44|deafness, autosomal recessive 44|autosomal recessive nonsyndromic deafness 44|deafness, autosomal recessive type 44 DOID:0110501|UMLS:C1857809|MESH:C565716|OMIM:610154|ICD10:H90.3 owl:Class MONDO:0060690 biolink:NamedThing phenytoin toxicity tmpaxzxjjyw_mondo_relaxed.owl diphenylhydantoin, defect in hydroxylation of|arene oxide detoxification defect|fetal hydantoin syndrome|phenytoin toxicity OMIM:617955 owl:Class MONDO:0020454 biolink:NamedThing congenital complete agenesis of pericardium Congenital complete agenesis of pericardium is a rare, mostly asymptomatic, congenital heart malformation characterized by the complete absence of the entire pericardium, or by the absence of either the right (uncommon) or left pericardium. It is occasionally associated with chest pain (common), dyspnea, dizziness, bradycardia and syncope, while exertional manifestations are rare. The disease is usually incidentally diagnosed during surgery or at autopsy. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q24.8|Orphanet:99129 owl:Class MONDO:0005964 biolink:NamedThing sphenoid sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus. tmpaxzxjjyw_mondo_relaxed.owl sphenoid bone sinusitis|sinusitis of sphenoid bone|sphenoidal sinusitis UMLS:C0037886|DOID:10794|NCIT:C35031|SCTID:13266007|ICD10:J32.3|MESH:D015524|EFO:0007489 owl:Class MONDO:0003573 biolink:NamedThing pleomorphic carcinoma A usually aggressive malignant epithelial neoplasm composed of cells with significant cytologic atypia and nuclear pleomorphism. tmpaxzxjjyw_mondo_relaxed.owl pleomorphic carcinoma (morphologic abnormality)|pleomorphic carcinoma UMLS:C0334233|DOID:5662|NCIT:C4094|ICDO:8022/3 owl:Class MONDO:0021282 biolink:NamedThing malignant teratoma of testis A malignant teratoma that involves the testis. tmpaxzxjjyw_mondo_relaxed.owl testis malignant teratoma|immature teratoma of testis|testicular malignant teratoma|immature teratoma of the testis|malignant teratoma of the testis|immature testicular teratoma|testicular immature teratoma|malignant testicular teratoma NCIT:C6353|SCTID:416769008|ICD9:186.9|UMLS:C1334154 owl:Class MONDO:0019784 biolink:NamedThing 12q14 microdeletion syndrome 12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. tmpaxzxjjyw_mondo_relaxed.owl monosomy 12q14|osteopoikilosis-short stature-intellectual disability syndrome|Del(12)(q14)|deletion 12q14 UMLS:C4305140|GARD:0013390|SCTID:719046005|Orphanet:94063|ICD10:Q93.5|UMLS:CN206727 https://rarediseases.info.nih.gov/diseases/13390/12q14-microdeletion-syndrome owl:Class UBERON:0035539 biolink:NamedThing esophageal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001256 biolink:NamedThing arteriovenous hemangioma/malformation A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures. tmpaxzxjjyw_mondo_relaxed.owl racemose angioma|cirsoid aneurysm|racemose aneurysm|racemose aneurysm (morphologic abnormality)|arteriovenous malformation|arteriovenous hemangioma/malformation|arteriovenous hemangioma|racemose hemangioma|arteriovenous angioma|racemose hemangioma (morphologic abnormality) CSP:0571-2717|ICDO:9123/0|SCTID:233982006|HP:0100026|ICD10:I77.0|UMLS:C0334533|NCIT:C2882|MESH:D001165|DOID:11294 Editor note: NCIT conflates hemangioma and malformation owl:Class MONDO:0007354 biolink:NamedThing coloboma of optic nerve tmpaxzxjjyw_mondo_relaxed.owl optic nerve head pits, bilateral congenital|coloboma of optic nerve (disease)|morning glory Disc anomaly|coloboma of optic nerve|optic nerve coloboma|congenital coloboma of the optic nerve coloboma of optic nerve (disease) ICD9:377.23|SCTID:17541006|OMIM:120430|ICD10:H47.31|MESH:C535970|Orphanet:35737|GARD:0008502|HP:0000588|ICD10:H47.319|ICD10:Q14.2|DOID:11975 owl:Class HP:0010514 biolink:NamedThing Hyperpituitarism Hypersecretion of one or more pituitary hormones. This can occur in conditions in which deficiency in the target organ leads to decreased hormonal feedback, or as a primary condition most usually in connection with a pituitary adenoma. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:10649000|MSH:D006964|UMLS:C0020506 peter 2009-09-19T04:14:54Z human_phenotype owl:Class HP:0011747 biolink:NamedThing Abnormality of the anterior pituitary An abnormality of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl Pituitary disease SNOMEDCT_US:399244003|UMLS:C4023206|MSH:D010900|UMLS:C0032002 peter 2012-04-22T11:17:00Z human_phenotype owl:Class MONDO:0007147 biolink:NamedThing obstructive sleep apnea syndrome Cessation of air flow during sleep due to upper airway obstruction. tmpaxzxjjyw_mondo_relaxed.owl obstructive sleep apnea|Apneas, obstructive sleep|obstructive sleep apnea syndrome|syndrome, sleep apnea, obstructive|obstructive sleep Apneas|sleep Apneas, obstructive|sleep apnea/hypopnea syndrome|Osa|OSAHS|apnea, obstructive sleep|syndrome, obstructive sleep apnea|upper airway resistance sleep apnea syndrome|sleep apnea hypopnea syndrome|syndrome, upper airway resistance, sleep apnea|sleep apnea syndrome, obstructive NCIT:C26884|EFO:0003918|SCTID:230493001|UMLS:C0520679|ICD9:780.57|DOID:0050848|SCTID:73430006|SCTID:78275009|HP:0002870|NCIT:C27168|NCIT:C116337|OMIM:107650|ICD9:327.23|ICD10:G47.30|ICD10:G47.3|ICD10:G47.33|MESH:D012891|MESH:D020181 owl:Class HGNC:16691 biolink:NamedThing TUBGCP4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr20p biolink:NamedThing 20p (Human) tmpaxzxjjyw_mondo_relaxed.owl 28100000 0 hg38 owl:Class GO:0120316 biolink:NamedThing sperm flagellum assembly The assembly and organization of the sperm flagellum, the microtubule-based axoneme and associated structures that are part of a sperm flagellum (or cilium). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0044458 biolink:NamedThing motile cilium assembly The aggregation, arrangement and bonding together of a set of components to form a motile cilium. tmpaxzxjjyw_mondo_relaxed.owl motile primary cilium assembly|motile primary cilia formation|nodal cilium formation|motile primary cilia assembly|nodal cilium assembly|motile primary cilium formation owl:Class GO:0005243 biolink:NamedThing gap junction channel activity A wide pore channel activity that enables a direct cytoplasmic connection from one cell to an adjacent cell. The gap junction can pass large solutes as well as electrical signals between cells. Gap junctions consist of two gap junction hemi-channels, or connexons, one contributed by each membrane through which the gap junction passes. tmpaxzxjjyw_mondo_relaxed.owl innexin|connexin|innexin channel activity|intercellular channel owl:Class GO:0022829 biolink:NamedThing wide pore channel activity Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts. tmpaxzxjjyw_mondo_relaxed.owl gap junction activity|non-gated, wide pore channel activity owl:Class MONDO:0020535 biolink:NamedThing house allergic alveolitis House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis. tmpaxzxjjyw_mondo_relaxed.owl SCTID:725415009|ICD10:J67.8|UMLS:C4511048|Orphanet:99907 owl:Class MONDO:0017853 biolink:NamedThing hypersensitivity pneumonitis Hypersensitivity pneumonitis (HP) is a pulmonary disease with symptoms of dyspnea and cough resulting from the inhalation of an antigen to which the subject has been previously sensitized. tmpaxzxjjyw_mondo_relaxed.owl allergic pneumonitis|extrinsic allergic alveolitis|hypersensitivity pneumonitis|exogen allergic alveolitis|HP|extrinsic allergic pneumonia hypersensitivity pneumonitis|allergic interstitial pneumonitis|alveolitis, extrinsic allergic ICD10:J67.5|ICD9:495.9|ICD10:J67.0|ICD10:J67.2|ICD10:J67.8|ICD10:J67.9|ICD10:J67.1|Orphanet:31740|ICD9:495.8|ICD10:J67.7|ICD10:J67.3|GARD:0000012|SCTID:37471005|ICD10:J67.6|MedDRA:10001890|ICD10:J67.4 owl:Class MONDO:0018499 biolink:NamedThing double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy tmpaxzxjjyw_mondo_relaxed.owl DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy ICD10:Q24.8|Orphanet:423712 owl:Class GO:0006665 biolink:NamedThing sphingolipid metabolic process The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpaxzxjjyw_mondo_relaxed.owl sphingolipid metabolism owl:Class MONDO:0007427 biolink:NamedThing deafness with anhidrotic ectodermal dysplasia tmpaxzxjjyw_mondo_relaxed.owl deafness with anhidrotic ectodermal dysplasia UMLS:C1852279|MESH:C565119|OMIM:125050 owl:Class MONDO:0100152 biolink:NamedThing DKC1-related disorder Any dyskeratosis congenita in which the cause of the disease is a mutation in the DKC1 gene. tmpaxzxjjyw_mondo_relaxed.owl DKC1-related disorder http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0009960 biolink:NamedThing inflammatory bowel disease 1 Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene. tmpaxzxjjyw_mondo_relaxed.owl ulcerative colitis, pediatric|Crohn disease-associated Growth failure, susceptibility to|inflammatory bowel disease (Crohn disease) 1|inflammatory bowel disease 1|inflammatory bowel disease caused by mutation in NOD2|ulcerative colitis|regional enteritis|Crohn disease|inflammatory bowel disease type 1|IBD1|NOD2 inflammatory bowel disease|pediatric ulcerative colitis SCTID:34000006|GARD:0009857|ICD9:555.9|DOID:0110892|OMIM:266600|UMLS:C0009324 owl:Class MONDO:0006947 biolink:NamedThing renovascular hypertension High blood pressure secondary to renal artery stenosis. tmpaxzxjjyw_mondo_relaxed.owl renovascular hypertension|renovascular hypertension (disease) renovascular hypertension (disease) HP:0100817|DOID:1591|ICD9:405.91|EFO:1001153|UMLS:C0020545|SCTID:123799005|NCIT:C85044|ICD10:I15.0 owl:Class MONDO:0001105 biolink:NamedThing renal hypertension Hypertension caused by the kidney's hormonal response to narrowing or occlusion of the renal arteries. tmpaxzxjjyw_mondo_relaxed.owl renovascular hypertension DOID:1073|MESH:D006977|SCTID:28119000|UMLS:C0020544|NCIT:C3121|EFO:1002039 owl:Class MONDO:0002959 biolink:NamedThing radiculopathy Disease involving a spinal nerve root (see spinal nerve roots) which may result from compression related to intervertebral disk displacement; spinal cord injuries; spinal diseases; and other conditions. Clinical manifestations include radicular pain, weakness, and sensory loss referable to structures innervated by the involved nerve root. tmpaxzxjjyw_mondo_relaxed.owl nerve root disorder ICD10:M54.1|DOID:4306|MESH:D011843|SCTID:72274001|ICD10:M54.10|UMLS:C0700594 Editor note: DO classifies under polyradiculopathy, which we invert owl:Class MONDO:0005319 biolink:NamedThing humerus fracture A traumatic or pathologic injury to the humerus in which the continuity of the humerus is broken. tmpaxzxjjyw_mondo_relaxed.owl fracture, humeral|humeral fracture|fractures, humeral MESH:D006810|EFO:0003943|NCIT:C26795|SCTID:66308002 owl:Class HP:0032158 biolink:NamedThing Unusual infection by anatomical site An unusual infection classified by the affected body part. tmpaxzxjjyw_mondo_relaxed.owl 2018-12-09 12:17:59+00:00 peter human_phenotype owl:Class CHEBI:24318 biolink:NamedThing glutamine family amino acid An L-alpha-amino acid which is L-glutamic acid or any of the essential amino acids biosynthesised from it (glutamine, proline and arginine). A closed class. tmpaxzxjjyw_mondo_relaxed.owl glutamine family amino acids owl:Class NCBITaxon:210 biolink:NamedThing Helicobacter pylori tmpaxzxjjyw_mondo_relaxed.owl Campylobacter pyloridis|Campylobacter pylori|Helicobacter nemestrinae|Campylobacter pylori subsp. pylori GC_ID:11|PMID:11931154|PMID:8186097|PMID:1995031|PMID:8494747 NCBITaxon:219 ncbi_taxonomy owl:Class NCBITaxon:209 biolink:NamedThing Helicobacter tmpaxzxjjyw_mondo_relaxed.owl PMID:17329766|PMID:1704793|GC_ID:11|PMID:29034857|PMID:11156001|PMID:15143020 NCBITaxon:28203 ncbi_taxonomy owl:Class MONDO:0007574 biolink:NamedThing spinocerebellar ataxia type 34 Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. tmpaxzxjjyw_mondo_relaxed.owl erythrokeratodermia with ataxia|spinocerebellar ataxia type 34|SCA34|erythrokeratodermia - ataxia|spinocerebellar ataxia and erythrokeratodermia|spinocerebellar ataxia 34|Giroux Barbeau syndrome OMIM:133190|GARD:0000059|DOID:0050981|ICD10:G11.1|Orphanet:1955|UMLS:C1851481|MESH:C535738|SCTID:719255000 owl:Class UBERON:0011119 biolink:NamedThing carpometacarpal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905653 biolink:NamedThing positive regulation of artery morphogenesis Any process that activates or increases the frequency, rate or extent of artery morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of arteriogenesis|upregulation of artery morphogenesis|upregulation of arterial morphogenesis|positive regulation of arterial morphogenesis|up regulation of arteriogenesis|activation of artery morphogenesis|up regulation of arterial morphogenesis|activation of arterial morphogenesis|up-regulation of artery morphogenesis|up-regulation of arterial morphogenesis|activation of arteriogenesis|upregulation of arteriogenesis|up-regulation of arteriogenesis|up regulation of artery morphogenesis owl:Class CHEBI:47867 biolink:NamedThing indicator Anything used in a scientific experiment to indicate the presence of a substance or quality, change in a body, etc. tmpaxzxjjyw_mondo_relaxed.owl Indikator owl:Class GO:1990204 biolink:NamedThing oxidoreductase complex Any protein complex that possesses oxidoreductase activity. tmpaxzxjjyw_mondo_relaxed.owl redox complex|oxidation-reduction complex owl:Class GO:1902494 biolink:NamedThing catalytic complex A protein complex which is capable of catalytic activity. tmpaxzxjjyw_mondo_relaxed.owl enzyme complex owl:Class MONDO:0007490 biolink:NamedThing carpotarsal osteochondromatosis Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs. tmpaxzxjjyw_mondo_relaxed.owl osteochondromatosis, dominant carpotarsal|dominant carpotarsal osteochondromatosis|Maroteaux Le Merrer Bensahel syndrome|dysplasia epiphysealis hemimelica with CHONDROMAS and osteochondromas|Maroteaux-Le Merrer-Bensahel syndrome MESH:C565076|SCTID:389272007|OMIM:127820|GARD:0001128|UMLS:C1300233|Orphanet:2767|ICD10:D16.9 https://rarediseases.info.nih.gov/diseases/1128/carpotarsal-osteochondromatosis owl:Class MONDO:0016939 biolink:NamedThing partial duplication of the short arm of chromosome 2 Chromosome 2p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl trisomy 2p|chromosome 2p duplication|partial trisomy 2p|2p duplication|partial duplication of the short arm of chromosome type 2|partial duplication of chromosome 2p|partial trisomy of chromosome 2p|2p trisomy|Duplication 2p Orphanet:262698|UMLS:C0795803|MESH:C538318|GARD:0005337 owl:Class MONDO:0016922 biolink:NamedThing partial duplication of chromosome 2 tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome 2|partial duplication of chromosome type 2 Orphanet:262196|SCTID:726340005 owl:Class MONDO:0008092 biolink:NamedThing hereditary neutrophilia A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34. tmpaxzxjjyw_mondo_relaxed.owl neutrophilia, hereditary SCTID:129639005|MESH:C563010|ICD10:D72.8|DOID:0090120|OMIM:162830|UMLS:C0543669|Orphanet:279943 owl:Class GO:0050871 biolink:NamedThing positive regulation of B cell activation Any process that activates or increases the frequency, rate or extent of B cell activation. tmpaxzxjjyw_mondo_relaxed.owl upregulation of B cell activation|up regulation of B cell activation|stimulation of B cell activation|positive regulation of B lymphocyte activation|activation of B cell activation|positive regulation of B-cell activation|positive regulation of B-lymphocyte activation|up-regulation of B cell activation owl:Class MONDO:0033850 biolink:NamedThing autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect tmpaxzxjjyw_mondo_relaxed.owl Orphanet:521411 owl:Class UBERON:0022279 biolink:NamedThing strand of hair on external ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005684 biolink:NamedThing bulbar polio A form of paralytic poliomyelitis affecting neurons of the medulla oblongata of the brain stem. Clinical features include impaired respiration, hypertension, alterations of vasomotor control, and dysphagia. Weakness and atrophy of the limbs and trunk due to spinal cord involvement is usually associated. (From Adams et al., Principles of Neurology, 6th ed, p765) tmpaxzxjjyw_mondo_relaxed.owl polio, bulbar|bulbar poliomyelitis|poliomyelitis, medullary involvement|bulbar polio|medullary involvement poliomyelitis ICD9:045.0|MESH:D011052|UMLS:C0032372|EFO:0007186|DOID:9786 owl:Class CHEBI:33245 biolink:NamedThing organic fundamental parent An organic fundamental parent is a structure used as a basis for substitutive names in organic nomenclature, containing, in addition to one or more hydrogen atoms, a single atom of an element, a number of atoms (alike or different) linked together to form an unbranched chain, a monocyclic or polycyclic ring system, or a ring assembly or ring/chain system. tmpaxzxjjyw_mondo_relaxed.owl organic fundamental parents|organic parent hydrides owl:Class HP:0000032 biolink:NamedThing Abnormality of male external genitalia An abnormality of male external genitalia. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025897 human_phenotype owl:Class MONDO:0017866 biolink:NamedThing subpulmonary stenosis tmpaxzxjjyw_mondo_relaxed.owl SCTID:448476001|Orphanet:3190|ICD10:Q24.3|UMLS:C3165028|GARD:0005051 https://rarediseases.info.nih.gov/diseases/5051/subpulmonary-stenosis owl:Class MONDO:0017865 biolink:NamedThing congenital pulmonary valve stenosis Congenital pulmonary stenosis (PS) is a congenital heart malformation that is characterized by a right ventricular outflow obstruction with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction in PS can be at the valvular, subpulmonary, or supravalvular levels (valvular, subpulmonary, supravalvular PS). tmpaxzxjjyw_mondo_relaxed.owl heart valve pulmonary stenosis|valvular pulmonary stenosis|valvate pulmonary stenosis|valvar pulmonary stenosis OMIM:265500|MedDRA:10037451|ICD10:Q22.1|Orphanet:3189|GARD:0004596 owl:Class MONDO:0010993 biolink:NamedThing Harrod syndrome Harrod syndrome is characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. tmpaxzxjjyw_mondo_relaxed.owl craniofacial digital genital anomalies|Harrod syndrome|cranio-facio-digito-genital syndrome|Harrod Doman Keele syndrome Orphanet:2115|GARD:0002601|SCTID:716089008|OMIM:601095|UMLS:C0795970|MESH:C535635|ICD10:Q87.8 owl:Class HGNC:9679 biolink:NamedThing PTPRQ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021491 biolink:NamedThing benign neoplasm of gum A benign neoplasm that involves the gingiva. tmpaxzxjjyw_mondo_relaxed.owl benign gingival tumor|benign tumor of gum|benign tumor of the gum|benign tumor of gingiva|benign tumor of the gingiva|gingiva benign neoplasm|benign neoplasm of the gingiva|benign gum neoplasm|benign neoplasm of gingiva|benign gingival neoplasm|benign gum tumor|benign neoplasm of the gum NCIT:C4598|SCTID:92126004|ICD9:210.4|UMLS:C0347201 owl:Class MONDO:0015230 biolink:NamedThing anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992. tmpaxzxjjyw_mondo_relaxed.owl anophthalmia megalocornea cardiopathy skeletal anomalies|Cassia Stocco dos Santos syndrome Orphanet:1101|GARD:0000717|ICD10:Q87.8|UMLS:CN197570|SCTID:720495005 https://rarediseases.info.nih.gov/diseases/717/anophthalmia-megalocornea-cardiopathy-skeletal-anomalies owl:Class MONDO:0016204 biolink:NamedThing idiopathic copper-associated cirrhosis Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining. tmpaxzxjjyw_mondo_relaxed.owl non-Wilsonian hepatic copper toxicosis of infancy and childhood Orphanet:209919|SCTID:715864007|ICD10:K74.6|OMIM:215600 owl:Class MONDO:0006751 biolink:NamedThing Erysipelothrix infectious disease Infections with bacteria of the genus erysipelothrix. tmpaxzxjjyw_mondo_relaxed.owl Erysipelothrix caused disease or disorder|Erysipelothrix infection|infection, Erysipelothrix|infections, Erysipelothrix|Erysipelothrix disease or disorder EFO:1000927|MESH:D004889|SCTID:367434002|UMLS:C0014736 owl:Class MONDO:0026426 biolink:NamedThing X inactivation, familial skewed, 2 tmpaxzxjjyw_mondo_relaxed.owl X-inactivation, familial skewed, 2|SXI2|X INACTIVATION, FAMILIAL SKEWED, 2 OMIM:300179 owl:Class MONDO:0100209 biolink:NamedThing X inactivation, familial skewed tmpaxzxjjyw_mondo_relaxed.owl This is a placeholder class for what we expect will be a future OMIM grouping class (phenotypic series). http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0100222 biolink:NamedThing A20 haploinsufficiency Any immune dysregulation disease in which the cause of the disease is a mutation in the TNFAIP3 gene. tmpaxzxjjyw_mondo_relaxed.owl HA20 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0045641 biolink:NamedThing negative regulation of basophil differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of basophil differentiation. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of basophil differentiation|down regulation of basophil differentiation|downregulation of basophil differentiation|inhibition of basophil differentiation owl:Class MONDO:0001103 biolink:NamedThing giardiasis An infection of the small intestine caused by the flagellated protozoan giardia lamblia. It is spread via contaminated food and water and by direct person-to-person contact. tmpaxzxjjyw_mondo_relaxed.owl infections, Giardia|Lambliases|lambliasis|beaver feaver|infection by Giardia lamblia|Giardia|Giardia infection|Giardiases SCTID:10679007|DOID:10718|MESH:D005873|UMLS:C0017536|ICD9:007.1|ICD10:A07.1 owl:Class CL:0002593 biolink:NamedThing smooth muscle cell of the internal thoracic artery A smooth muscle of the internal thoracic artery. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T05:01:41Z cell owl:Class NCBITaxon:444 biolink:NamedThing Legionellaceae tmpaxzxjjyw_mondo_relaxed.owl PMID:434652|GC_ID:11 ncbi_taxonomy owl:Class SO:1000028 biolink:NamedThing intrachromosomal_mutation A chromosomal structure variation within a single chromosome. tmpaxzxjjyw_mondo_relaxed.owl intrachromosomal mutation owl:Class SO:1000183 biolink:NamedThing chromosome_structure_variation An alteration of the genome that leads to a change in the structure or number of one or more chromosomes. tmpaxzxjjyw_mondo_relaxed.owl chromosome structure variation|snpEff:CHROMOSOME_LARGE_DELETION owl:Class MONDO:0007780 biolink:NamedThing hypertelorism, Teebi type Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes. tmpaxzxjjyw_mondo_relaxed.owl Teebi hypertelorism syndrome|Teebi syndrome|Brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, Teebi type|hypertelorism, Teebi type ICD10:Q87.0|SCTID:724284005|OMIM:145420|Orphanet:1519|GARD:0000957|UMLS:C0796179|UMLS:CN199596 owl:Class HGNC:3363 biolink:NamedThing ENTPD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:37276 biolink:NamedThing CRPPA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032696 biolink:NamedThing oocyte maturation defect 6 tmpaxzxjjyw_mondo_relaxed.owl OOMD6|OOCYTE MATURATION DEFECT 6 OMIM:618353 owl:Class MONDO:0004615 biolink:NamedThing upper gum cancer A cancer involving a gingiva of upper jaw. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of upper gingiva|malignant tumour of upper gum|malignant gingiva of upper jaw neoplasm|malignant neoplasm of gingiva of upper jaw|cancer of gingiva of upper jaw|gingiva of upper jaw cancer ICD10:C03.0|SCTID:363383000|ICD9:143.0|UMLS:C0153365|DOID:8601 owl:Class FOODON:03303918 biolink:NamedThing human milk (raw) Breast milk is the milk produced by the breasts (or mammary glands) of a human female to feed a child. tmpaxzxjjyw_mondo_relaxed.owl SUBSET_SIREN:F3918 SIREN DB annotation: * has quality 'liquid, low viscosity, with no visible particles' (http://purl.obolibrary.org/obo/FOODON_03430123) * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) https://en.wikipedia.org/wiki/Breast_milk http://langual.org subset_siren owl:Class FOODON:00001958 biolink:NamedThing human milk based food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033717 biolink:NamedThing congenital cerebellar ataxia due to RNU12 mutation A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:512260 owl:Class OBO:CHR_9606-chr17p biolink:NamedThing 17p (Human) tmpaxzxjjyw_mondo_relaxed.owl 25100000 0 hg38 owl:Class MONDO:0009781 biolink:NamedThing Onychotrichodysplasia and neutropenia tmpaxzxjjyw_mondo_relaxed.owl onycho-tricho-dysplasia-neutropenia syndrome|Onychotrichodysplasia and neutropenia MESH:C537752|OMIM:258360|GARD:0010161|Orphanet:2739|UMLS:C1850316 https://rarediseases.info.nih.gov/diseases/10161/onychotrichodysplasia-and-neutropenia owl:Class NCBITaxon:42231 biolink:NamedThing Mansonella perstans tmpaxzxjjyw_mondo_relaxed.owl Dipetalonema perstans GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:42230 biolink:NamedThing Mansonella tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100041 biolink:NamedThing secondary trimethylaminuria A type of trimethylaminuria that occurs as the result of treatment with large doses of dietary precursors of the offending chemical. Symptoms develop when the ability of the liver enzyme (flavin-containing monooxygenase 3) is insufficient to break down (metabolize) the excess trimethylamine. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3448|https://rarediseases.org/rare-diseases/trimethylaminuria/ owl:Class UBERON:0005327 biolink:NamedThing mesonephric glomerular epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020073 biolink:NamedThing adolescent-onset epilepsy syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206977|ICD10:G40.4|Orphanet:98260 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class UBERON:4000164 biolink:NamedThing caudal fin tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:5498 biolink:NamedThing Cladosporium tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:1685474 ncbi_taxonomy owl:Class NCBITaxon:452563 biolink:NamedThing Cladosporiaceae tmpaxzxjjyw_mondo_relaxed.owl Davidiellaceae GC_ID:1|PMID:17486979 NCBITaxon:452564 ncbi_taxonomy owl:Class MONDO:0007983 biolink:NamedThing Schmid metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait. tmpaxzxjjyw_mondo_relaxed.owl metaphyseal chondrodysplasia Schmid type|spondylometaphyseal dysplasia, Japanese type|metaphyseal chondrodysplasia, Schmid type|MCDS|Schmid type metaphyseal dysplasia|Japanese type spondylometaphyseal dysplasia OMIM:156500|GARD:0007029|Orphanet:174|ICD10:Q78.5|SCTID:29248006|MESH:C537352|DOID:0080021 owl:Class GO:1904730 biolink:NamedThing negative regulation of intestinal lipid absorption Any process that stops, prevents or reduces the frequency, rate or extent of intestinal lipid absorption. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of intestinal lipid absorption|downregulation of intestinal lipid absorption|down regulation of intestinal lipid absorption|inhibition of intestinal lipid absorption owl:Class UBERON:0001668 biolink:NamedThing cerebellar vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011041 biolink:NamedThing ectodermal dysplasia with natal teeth, Turnpenny type Ectodermal dysplasia with natal teeth, Turnpenny type is characterised by hypo- or oligodontia and acanthosis nigricans. It has been described in four generations of one family. Onset generally occurs during adolescence. Some patients were born with multiple teeth. Hair anomalies (sparse body and scalp hair) were also reported. Inheritance is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia with natal teeth, Turnpenny type|ectodermal dysplasia, hair/Tooth type|ectodermal dysplasia with natal teeth Turnpenny type SCTID:715576000|UMLS:C1832444|GARD:0010526|MESH:C563347|OMIM:601345|Orphanet:69083 https://rarediseases.info.nih.gov/diseases/10526/ectodermal-dysplasia-with-natal-teeth-turnpenny-type owl:Class GO:0150074 biolink:NamedThing positive regulation of protein-glutamine gamma-glutamyltransferase activity Any process that activates or increases the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050748 biolink:NamedThing negative regulation of lipoprotein metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving lipoproteins, any conjugated, water-soluble protein in which the nonprotein group consists of a lipid or lipids. tmpaxzxjjyw_mondo_relaxed.owl downregulation of lipoprotein metabolic process|down regulation of lipoprotein metabolic process|inhibition of lipoprotein metabolic process|negative regulation of lipoprotein metabolism|down-regulation of lipoprotein metabolic process owl:Class MONDO:0003372 biolink:NamedThing vulvar leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl mammalian vulva leiomyosarcoma|leiomyosarcoma of mammalian vulva UMLS:C2168304|EFO:1001975|NCIT:C40318|DOID:5286 owl:Class HGNC:25523 biolink:NamedThing CCDC88A tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002102 biolink:NamedThing CD38-negative naive B cell A CD38-negative naive B cell is a mature B cell that has the phenotype CD38-negative, surface IgD-positive, surface IgM-positive, and CD27-negative, that has not yet been activated by antigen in the periphery. tmpaxzxjjyw_mondo_relaxed.owl CD38- naive B cell|CD38-negative naive B-lymphocyte|CD38- naive B lymphocyte|CD38- naive B-lymphocyte|CD38-negative naive B-cell|CD38- naive B-cell|CD38-negative naive B lymphocyte cell owl:Class GO:0051886 biolink:NamedThing negative regulation of timing of anagen Any process that stops, prevents, or reduces the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle. tmpaxzxjjyw_mondo_relaxed.owl downregulation of anagen|inhibition of anagen|down-regulation of anagen|down regulation of anagen|negative regulation of anagen owl:Class MONDO:0009381 biolink:NamedThing hyperbilirubinemia, conjugated, type 3 tmpaxzxjjyw_mondo_relaxed.owl hyperbilirubinemia, conjugated, type III SCTID:235906009|UMLS:C0400964|OMIM:237550|MESH:C562885 owl:Class HP:0009122 biolink:NamedThing Aplasia/hypoplasia affecting bones of the axial skeleton Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4024585 peter 2008-04-05T11:29:00Z human_phenotype owl:Class MONDO:0010115 biolink:NamedThing thoracic dysplasia-hydrocephalus syndrome tmpaxzxjjyw_mondo_relaxed.owl thoracic dysplasia-hydrocephalus syndrome|thoracic dysplasia hydrocephalus syndrome ICD10:Q87.8|GARD:0005180|OMIM:273730|UMLS:C1848864|MESH:C564774|Orphanet:1861 https://rarediseases.info.nih.gov/diseases/5180/thoracic-dysplasia-hydrocephalus-syndrome owl:Class MONDO:0011920 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 48 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene. tmpaxzxjjyw_mondo_relaxed.owl MYO1A autosomal dominant nonsyndromic deafness|deafness, autosomal dominant 48|autosomal dominant nonsyndromic deafness caused by mutation in MYO1A|deafness, autosomal dominant type 48|autosomal dominant nonsyndromic deafness 48|DFNA48|autosomal dominant deafness 48|autosomal dominant nonsyndromic deafness type 48 DOID:0110571|ICD10:H90.3|UMLS:C1842939|OMIM:607841|MESH:C564322 owl:Class CHEBI:33262 biolink:NamedThing elemental oxygen tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33259 biolink:NamedThing elemental molecular entity A molecular entity all atoms of which have the same atomic number. tmpaxzxjjyw_mondo_relaxed.owl homoatomic entity|homoatomic molecular entities|homoatomic molecular entity owl:Class UBERON:0005970 biolink:NamedThing brain commissure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012752 biolink:NamedThing aneurysm, intracranial berry, 6 tmpaxzxjjyw_mondo_relaxed.owl ANIB6|aneurysm, intracranial BERRY, 6 OMIM:611892|UMLS:C2678469|MESH:C567500 owl:Class MONDO:0017010 biolink:NamedThing partial duplication of the long arm of chromosome X Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of theduplication;the genes involved; and the sex of the affected person. In general, males are typically more severely affected than females and often experience intellectual disability, developmental delay, short stature, abnormalities of the reproductive organs, anddistinctive craniofacial features. Many females with this duplication do not have any symptoms or are only affected with short stature; however, some may be just as severely affected as males with the condition. Most cases are inherited in an X-linked manner, often from a mother with no signs or symptoms of the condition. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl Xq duplication|partial duplication of the long arm of chromosome type X|partial trisomy of chromosome Xq|partial duplication of chromosome Xq|partial trisomy Xq|trisomy Xq|Xq trisomy|Duplication Xq|partial trisomy of the long arm of chromosome X|chromosome Xq duplication UMLS:C0795891|MESH:C536732|ICD10:Q99.8|GARD:0005369|Orphanet:263783 owl:Class MONDO:0016676 biolink:NamedThing recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome Hyperzincemia and hypercalprotectinemia is a rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported. tmpaxzxjjyw_mondo_relaxed.owl hyperzincemia and hypercalprotectinemia ICD10:E83.2|OMIM:194470|UMLS:C1860229|Orphanet:251523 owl:Class MONDO:0008691 biolink:NamedThing zinc, elevated plasma tmpaxzxjjyw_mondo_relaxed.owl albumin binding of zinc, elevated|zinc, elevated plasma|hyperzincemia and hypercalprotectinemia|hyperzincemia, familial Dysalbuminemic OMIM:194470|UMLS:C1860229|Orphanet:251523 owl:Class MONDO:0000939 biolink:NamedThing intracranial abscess An abscess that is located in the intracranial space. tmpaxzxjjyw_mondo_relaxed.owl SCTID:27614006|DOID:10095|ICD9:324.0|UMLS:C0021874|NCIT:C34734 owl:Class MONDO:0011183 biolink:NamedThing Paget disease of bone 2, early-onset tmpaxzxjjyw_mondo_relaxed.owl PDB2|Paget disease of bone 2, early-onset UMLS:C4085251|UMLS:C0029401|OMIM:602080 owl:Class MONDO:0003285 biolink:NamedThing fallopian tube leiomyoma A benign smooth muscle neoplasm arising from the fallopian tube. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of fallopian tube|fallopian tube leiomyoma UMLS:C1517115|NCIT:C40127|DOID:5124 owl:Class HGNC:22788 biolink:NamedThing FEZF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000467 biolink:NamedThing second-degree atrioventricular block Intermittent failure of atrial electrical impulse conduction to the ventricles. tmpaxzxjjyw_mondo_relaxed.owl second degree AV block|AV block second degree|atrioventricular block, second degree|second degree atrioventricular block|atrioventricular block second degree|second-degree heart block DOID:0050822|SCTID:195042002|ICD9:426.13|NCIT:C111119|UMLS:C1621824|UMLS:C0264906 owl:Class NCBITaxon:33634 biolink:NamedThing Stramenopiles tmpaxzxjjyw_mondo_relaxed.owl Straminipila|Chromophyta|Heterokonta|heterokonts GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012746 biolink:NamedThing dilated cardiomyopathy 2A A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, autosomal recessive|cardiomyopathy, dilated, 2A|cardiomyopathy, dilated, type 2A|cardiomyopathy, congestive, autosomal recessive|CMD2A|dilated cardiomyopathy type 2A ICD10:I42.0|OMIM:611880|DOID:0110460|UMLS:C2678474 owl:Class MONDO:0000137 biolink:NamedThing leukoencephalopathy, megalencephalic tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:604004 owl:Class OBO:CARO_0001000 biolink:NamedThing multi-cell-part structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016929 biolink:NamedThing partial duplication of chromosome 8 tmpaxzxjjyw_mondo_relaxed.owl partial duplication of chromosome type 8|partial trisomy of chromosome 8 SCTID:726347008|MESH:C537941|Orphanet:262638 owl:Class MONDO:0017360 biolink:NamedThing vitamin B12-unresponsive methylmalonic acidemia type mut0 Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. tmpaxzxjjyw_mondo_relaxed.owl complete deficiency of methylmalonyl-CoA mutase|vitamin B12-unresponsive methylmalonic aciduria type mut0 Orphanet:289916|UMLS:CN203025|UMLS:C1855114|SCTID:237945003|ICD10:E71.1|OMIM:251000 owl:Class GO:0044270 biolink:NamedThing cellular nitrogen compound catabolic process The chemical reactions and pathways resulting in the breakdown of organic and inorganic nitrogenous compounds. tmpaxzxjjyw_mondo_relaxed.owl nitrogen compound breakdown|nitrogen compound catabolism|nitrogen compound degradation owl:Class GO:0009251 biolink:NamedThing glucan catabolic process The chemical reactions and pathways resulting in the breakdown of glucans, polysaccharides consisting only of glucose residues. tmpaxzxjjyw_mondo_relaxed.owl glucan breakdown|glucan degradation|glucan catabolism owl:Class HP:0011443 biolink:NamedThing Abnormality of coordination tmpaxzxjjyw_mondo_relaxed.owl Abnormality of coordination|Coordination issue UMLS:C4023353 peter 2012-03-18T02:40:46Z human_phenotype owl:Class UBERON:0004637 biolink:NamedThing otic capsule tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1442 biolink:NamedThing CALM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001679 biolink:NamedThing fluid front A fluid interface which separates two fluid masses with differing properties. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006178 biolink:NamedThing dedifferentiated solitary fibrous tumor A solitary fibrous tumor characterized by the presence of areas of abrupt transition to high grade sarcoma. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C79948|EFO:1000214|UMLS:C2699572 owl:Class MONDO:0005777 biolink:NamedThing granuloma inguinale A condition resulting from infection by Klebsiella granulomati, which is characterized by ulcerative lesions of the genitalia. tmpaxzxjjyw_mondo_relaxed.owl granuloma inguinale|donovanosis|pudendal ulcer NCIT:C3065|SCTID:28867007|MESH:D006100|DOID:9113|UMLS:C0018190|ICD9:099.2|ICD10:A58|GARD:0009532|EFO:0007291 https://rarediseases.info.nih.gov/diseases/9532/granuloma-inguinale owl:Class MONDO:0001582 biolink:NamedThing cicatricial ectropion tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155196|ICD9:374.14|SCTID:28914006|DOID:12782 owl:Class HP:0200067 biolink:NamedThing Recurrent spontaneous abortion Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. tmpaxzxjjyw_mondo_relaxed.owl Spontaneous abortion, recurrent UMLS:C3279439 sebastiankohler 2013-05-31T01:33:01Z human_phenotype owl:Class HP:0005268 biolink:NamedThing Spontaneous abortion A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. tmpaxzxjjyw_mondo_relaxed.owl Miscarriage SNOMEDCT_US:17369002|UMLS:C0000786|MSH:D000022 human_phenotype owl:Class MONDO:0003126 biolink:NamedThing breast hemangioma A capillary or cavernous hemangioma arising from the breast. tmpaxzxjjyw_mondo_relaxed.owl breast hemangioma|hemangioma of the breast|breast angioma|hemangioma of breast|angioma of breast|angioma of the breast UMLS:C0853715|NCIT:C5353|DOID:476 owl:Class MONDO:0001379 biolink:NamedThing ureteric orifice cancer A malignant neoplasm involving the ureteral orifice. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of ureteric orifice of urinary bladder|malignant ureteral orifice neoplasm|cancer of ureteral orifice|malignant neoplasm of ureteral orifice|malignant tumor of ureteric orifice|ureteral orifice cancer|orifice of the ureter DOID:11818|ICD9:188.6|SCTID:188245008|ICD10:C67.6|UMLS:C0153614|NCIT:C12337 owl:Class GO:0006858 biolink:NamedThing extracellular transport The transport of substances that occurs outside cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016835 biolink:NamedThing carbon-oxygen lyase activity Catalysis of the breakage of a carbon-oxygen bond. tmpaxzxjjyw_mondo_relaxed.owl other carbon-oxygen lyase activity owl:Class GO:0002251 biolink:NamedThing organ or tissue specific immune response An immune response taking place in an organ or tissues such as the liver, brain, mucosa, or nervous system tissues. tmpaxzxjjyw_mondo_relaxed.owl immune response in organ or tissue owl:Class MONDO:0006039 biolink:NamedThing infectious colitis A viral or bacterial infectious process affecting the large intestine. tmpaxzxjjyw_mondo_relaxed.owl infectious colitis NCIT:C78359|UMLS:C0277524|SCTID:39341005|EFO:1000035 owl:Class MONDO:0008954 biolink:NamedThing peroxisome biogenesis disorder 2A (Zellweger) tmpaxzxjjyw_mondo_relaxed.owl PBD2A|peroxisome biogenesis disorder 2A (Zellweger)|peroxisome biogenesis disorder, complementation group 2 OMIM:214110|Orphanet:912|UMLS:C3550273|DOID:0080477 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100262 biolink:NamedThing peroxisome biogenesis disorder due to PEX5 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX5 gene. tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX5 defect|PEX5 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0012080 biolink:NamedThing patella cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017372 biolink:NamedThing congenital varicella syndrome Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection. tmpaxzxjjyw_mondo_relaxed.owl Varicella virus antenatal infection|fetal varicella infection|mother-to-child transmission of varicella syndrome|Varicella embryopathy|antenatal varicella virus infection|fetal effects of chickenpox|fetal effects of varicella zoster virus|fetal varicella zoster syndrome NCIT:C116800|UMLS:C0343560|SCTID:277644009|ICD10:P35.8|GARD:0000045|ICD9:771.2|Orphanet:291 https://rarediseases.info.nih.gov/diseases/45/congenital-varicella-syndrome owl:Class MONDO:0000408 biolink:NamedThing fetal alcohol spectrum disorder A group of disorders caused by a prenatal exposure to maternal consumption of alcohol leading to a range of behavioral, cognitive and neurological deficits in the offspring. It is characterized by physical growth problems, distinct facies, and varying psycho-neurological issues. tmpaxzxjjyw_mondo_relaxed.owl fetal alcohol syndrome (FAS) - type|growth retardation, facial abnormalities, and central nervous system dysfunction|birth defects, alcohol-related|fetal alcohol spectrum disorders|alcohol related neurodevelopmental disorder|alcohol-related birth defects|syndrome, fetal alcohol|alcohol-related neurodevelopmental disorder (ARND) - type|partial fetal alcohol syndrome|alcohol related birth defects|FASD|FAE (fetal alcohol effects)|FASDs|alcohol-related birth defects (ARBD) - type|FAEs (fetal alcohol effects)|fetal alcohol syndrome UMLS:C2985290|UMLS:CN036067|GARD:0000599|MESH:D063647|UMLS:CN200663|NCIT:C92780|SCTID:609437000|DOID:0050696 owl:Class GO:0016010 biolink:NamedThing dystrophin-associated glycoprotein complex A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase. tmpaxzxjjyw_mondo_relaxed.owl dystrophin glycoprotein complex|DGC owl:Class CL:0010022 biolink:NamedThing cardiac neuron tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006011 biolink:NamedThing viral hepatitis An acute or chronic inflammation of the liver parenchyma caused by viruses. Representative examples include hepatitis A, B, and C, cytomegalovirus hepatitis, and herpes simplex hepatitis. tmpaxzxjjyw_mondo_relaxed.owl viral hepatitis with hepatic coma|unspecified viral hepatitis with hepatic coma|viral human hepatitis|Viruses hepatitis|Hepatitis viral|viral Hepatitis|human viral hepatitis|Viruses caused hepatitis ICD9:573.1|MESH:D006525|SCTID:3738000|NCIT:C35124|UMLS:C0019194|UMLS:C0042721|UMLS:C0019195|ICD10:B15.B19|MESH:D006524|EFO:0004196|DOID:1884 Editor note: consider adding term for viral animal viral hepatitis owl:Class HGNC:25535 biolink:NamedThing TMEM38B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014460 biolink:NamedThing nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed. tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia-short stature syndrome|ECTDS|short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome|ectodermal dysplasia/short stature syndrome UMLS:C4014987|OMIM:616029|Orphanet:423454|ICD10:Q82.8 owl:Class MONDO:0100134 biolink:NamedThing mitochondrial complex I deficiency, mitochondrial type tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class HP:0025337 biolink:NamedThing Red eye A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. tmpaxzxjjyw_mondo_relaxed.owl Red eye|Red eyes 2017-02-12 12:27:39+00:00 HPO:probinson human_phenotype owl:Class HP:0008047 biolink:NamedThing Abnormality of the vasculature of the eye tmpaxzxjjyw_mondo_relaxed.owl Abnormality of eye blood vessels UMLS:C4024752 peter 2008-04-02T12:10:00Z human_phenotype owl:Class MONDO:0016433 biolink:NamedThing dysmorphism-short stature-deafness-disorder of sex development syndrome Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome UMLS:CN201392|Orphanet:2282|ICD10:Q87.8 owl:Class NCBITaxon:34503 biolink:NamedThing Paragonimus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:34502 biolink:NamedThing Troglotrematidae tmpaxzxjjyw_mondo_relaxed.owl Paragonimidae GC_ID:1 NCBITaxon:99728 ncbi_taxonomy owl:Class MONDO:0013334 biolink:NamedThing cocoon syndrome Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported. tmpaxzxjjyw_mondo_relaxed.owl fetal encasement syndrome|cocoon syndrome OMIM:613630|UMLS:C3150891|DOID:0060647|Orphanet:465824 owl:Class MONDO:0024982 biolink:NamedThing salmonella infections, animal Infections in animals with bacteria of the genus salmonella. tmpaxzxjjyw_mondo_relaxed.owl infection, animal Salmonella|animal Salmonella infection|Salmonella infection, animal|animal Salmonella infections|infections, animal Salmonella MESH:D012481|UMLS:C0036118 owl:Class MONDO:0002287 biolink:NamedThing glandular cystitis A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by metaplastic glandular cells. tmpaxzxjjyw_mondo_relaxed.owl cystitis glandularis NCIT:C39860|UMLS:C0268837|DOID:2392|SCTID:72815004|ICD9:595.89 owl:Class MONDO:0013337 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 1C A hereditary sensory and autonomic neuropathy type 1 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. tmpaxzxjjyw_mondo_relaxed.owl HSN 1C|hereditary sensory and autonomic neuropathy type IC|HSAN 1C|neuropathy, hereditary sensory and autonomic, type IC|neuropathy, hereditary sensory, type 1C|hereditary sensory and autonomic neuropathy type 1C|HSAN1C OMIM:613640|DOID:0070157|Orphanet:36386|UMLS:C3150896 owl:Class MONDO:0013743 biolink:NamedThing autosomal systemic lupus erythematosus type 16 An instance of systemic lupus erythematosus (disease) that is caused by mutations in DNASE1L3. tmpaxzxjjyw_mondo_relaxed.owl SLEB16|familial SLE|familial systemic lupus erythematosus|autosomal SLE|systemic lupus erythematosus type 16|systemic lupus erythematosus 16 UMLS:C3280742|Orphanet:300345|ICD10:M32.8|OMIM:614420 Editor note: it is not clear what the ORDO class Orphanet:300345 should be equivalent to, see https://github.com/monarch-initiative/mondo/issues/1164 owl:Class UBERON:0005638 biolink:NamedThing anterior chamber epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9882 biolink:NamedThing RASSF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004107 biolink:NamedThing splenic manifestation of leukemia A leukemia (disease) that involves the spleen. tmpaxzxjjyw_mondo_relaxed.owl leukemia (disease) of spleen|spleen leukemia (disease)|splenic leukemia|splenic manifestation of leukemia NCIT:C7296|DOID:710|UMLS:C1336065 owl:Class UBERON:0007845 biolink:NamedThing regular connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000676 biolink:NamedThing phonagnosia An agnosia that is a loss of the ability to recognize familiar voices. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060146 owl:Class GO:0031643 biolink:NamedThing positive regulation of myelination Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons. tmpaxzxjjyw_mondo_relaxed.owl up regulation of myelination|stimulation of myelination|upregulation of myelination|up-regulation of myelination|activation of myelination owl:Class GO:0036094 biolink:NamedThing small molecule binding Binding to a small molecule, any low molecular weight, monomeric, non-encoded molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024247 biolink:NamedThing benign eccrine neoplasm A non-metastasizing eccrine appendage sweat gland neoplasm. Representative examples include hidrocystoma, syringoma, and syringofibroadenoma. tmpaxzxjjyw_mondo_relaxed.owl benign eccrine tumor of the skin|benign eccrine neoplasm of the skin|benign eccrine tumor|benign eccrine neoplasm|benign eccrine skin tumor|benign eccrine tumor of skin|benign eccrine skin neoplasm|eccrine sweat gland neoplasm, benign|benign skin tumor with eccrine differentiation|benign eccrine sweat gland neoplasm|benign eccrine neoplasm of skin NCIT:C6797|UMLS:C1332493|SCTID:254715009 owl:Class UBERON:0006872 biolink:NamedThing handplate apical ectodermal ridge tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020257 biolink:NamedThing supranuclear oculomotor palsy Oculomotor palsy that arises from lesions in the supranuclear pathways controlling extraocular movement. tmpaxzxjjyw_mondo_relaxed.owl conjugate gaze palsy|supranuclear disorder of eye movement|gaze palsy|supranuclear ocular palsy GARD:0008403|Orphanet:98687 Editor note: TODO review literature. Consider relationship to ocular nerve, supranuclear pathway includes other nerves owl:Class MONDO:0022648 biolink:NamedThing cardiomyopathy and deafness due to tRNA lysine gene mutation A specific change in the MTTK gene causes a condition characterized by weakened heart muscle (cardiomyopathy) and hearing loss. Affected individuals may also have myopathy and ataxia. This mutation replaces the DNA building block (nucleotide) guanine with the nucleotide adenine at position 8363 (written as G8363A) within the gene. It is unclear how this alteration in the MTTK gene results in cardiomyopathy, hearing loss, and other symptoms. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy and deafness due to tRNA lysine gene mutation|cardiomyopathy and deafness due to MTTK gene mutation GARD:0001108|UMLS:CN036924|GTR:AN0103738|HGNC:7489|GTR:AN0103739 https://rarediseases.info.nih.gov/diseases/1108/cardiomyopathy-and-deafness-due-to-trna-lysine-gene-mutation owl:Class HP:0000953 biolink:NamedThing Hyperpigmentation of the skin A darkening of the skin related to an increase in melanin production and deposition. tmpaxzxjjyw_mondo_relaxed.owl Patchy darkened skin|Hyperpigmented lesion|Increased skin pigmentation|Melanoderma|Melanodermia|Cutaneous hyperpigmentation|Skin hyperpigmentation MSH:D017495|UMLS:C0162834|SNOMEDCT_US:4830009|SNOMEDCT_US:49765009 HP:0007527 human_phenotype owl:Class MONDO:0004493 biolink:NamedThing testicular yolk sac tumor, papillary pattern A yolk sac tumor that arises from the testis and is characterized by the presence of numerous papillary structures that are lined by cells with prominent nucleoli. tmpaxzxjjyw_mondo_relaxed.owl papillary pattern testicular yolk sac tumor|testicular yolk sac tumor, papillary pattern NCIT:C39928|UMLS:C1515310|DOID:8193 owl:Class CHEBI:64911 biolink:NamedThing antimitotic Any compound that inhibits cell division (mitosis). tmpaxzxjjyw_mondo_relaxed.owl mitotic inhibitors|antimitotics|mitosis inhibitor|mitotic inhibitor|mitosis inhibitors owl:Class MONDO:0013894 biolink:NamedThing short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome tmpaxzxjjyw_mondo_relaxed.owl soft syndrome|short stature, onychodysplasia, facial dysmorphism, and hypotrichosis|soft Orphanet:314394|ICD10:Q87.1|OMIM:614813|UMLS:C3542022 owl:Class CHEBI:83403 biolink:NamedThing monochlorobenzenes Any member of the class of chlorobenzenes containing a mono- or poly-substituted benzene ring in which only one substituent is chlorine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:23132 biolink:NamedThing chlorobenzenes Any organochlorine compound containing a benzene ring which is substituted by one or more chlorines. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:38496 biolink:NamedThing electron-transport chain inhibitor tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005488 biolink:NamedThing adolescent idiopathic scoliosis A scoliosis with no known cause arising in adolescent. tmpaxzxjjyw_mondo_relaxed.owl EFO:0005423|Orphanet:3153|SCTID:203646004 owl:Class MONDO:0005591 biolink:NamedThing pit and fissure surface dental caries tmpaxzxjjyw_mondo_relaxed.owl ICD9:521.06|EFO:0006338 owl:Class UBERON:0001184 biolink:NamedThing renal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1639119 biolink:NamedThing Plasmodiidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5819 biolink:NamedThing Haemosporida tmpaxzxjjyw_mondo_relaxed.owl Haemosporina|Haemospororida|haemosporidians GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008070 biolink:NamedThing nemaline myopathy 3 An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles. tmpaxzxjjyw_mondo_relaxed.owl NEM3|nemaline myopathy type 3|myopathy, actin, congenital, with cores|ACTA1 nemaline myopathy|nemaline myopathy 3, with intranuclear rods|nemaline myopathy 3|nemaline myopathy 3, autosomal dominant or recessive|nemaline myopathy caused by mutation in ACTA1|myopathy, actin, congenital, with Excess of thin myofilaments NCIT:C129870|Orphanet:607|DOID:0110927|MESH:C580202|Orphanet:98904|SCTID:702349003|UMLS:CN187050|OMIM:161800 owl:Class MONDO:0003057 biolink:NamedThing pediatric meningioma A meningioma that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood meningioma (disease)|childhood meningioma|meningioma (disease) of childhood|pediatric meningioma (disease)|pediatric meningioma|meningioma NCIT:C8264|UMLS:C0280656|DOID:4593 owl:Class MONDO:0013481 biolink:NamedThing chromosome 13q14 deletion syndrome Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. tmpaxzxjjyw_mondo_relaxed.owl chromosome 13Q deletion syndrome|Del(13)(q14)|monosomy type 13q14|del(13q14)|chromosome 13q14 deletion syndrome|monosomy 13q14|deletion 13q14 NCIT:C36421|ICD10:Q93.5|DOID:0060391|Orphanet:1587|OMIM:613884|MESH:C535484 owl:Class MONDO:0017483 biolink:NamedThing humeral agenesis/hypoplasia, bilateral tmpaxzxjjyw_mondo_relaxed.owl humeral intercalary meromelia, bilateral ICD10:Q71.8|Orphanet:295063 owl:Class MONDO:0017440 biolink:NamedThing humeral agenesis/hypoplasia Humeral agenesis/hypoplasia is a rare, non-syndromic limb reduction defect characterized by the unilateral or bilateral presence of a short arm with completely absent or underdeveloped humerus, frequently associated with ulnar and/or radial malformations. Patients may present with the appearance of the forearm directly attached to the shoulder, no articulation at the shoulder joint, impossible passive extension of the arm beyond the mid-axillary line, no elbow joints, bowing of the radius, a short ulna and/or ulnar/radial deviation of the hand at the wrist. tmpaxzxjjyw_mondo_relaxed.owl congenital absence of humerus|congenital hypoplasia of humerus|humeral intercalary meromelia ICD10:Q71.8|Orphanet:294973 owl:Class UBERON:0011594 biolink:NamedThing dentary tooth tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6484 biolink:NamedThing LAMA4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903792 biolink:NamedThing negative regulation of anion transport Any process that stops, prevents or reduces the frequency, rate or extent of anion transport. tmpaxzxjjyw_mondo_relaxed.owl down regulation of anion transport|down-regulation of anion transport|inhibition of anion transport|downregulation of anion transport owl:Class MONDO:0020298 biolink:NamedThing Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 tmpaxzxjjyw_mondo_relaxed.owl UPD(15)mat|Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15 ICD10:Q87.1|Orphanet:98754|UMLS:CN207093 owl:Class MONDO:0022552 biolink:NamedThing Bazopoulou Kyrkanidou syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931580|MESH:C537664 owl:Class MONDO:0007405 biolink:NamedThing Crouzon syndrome Crouzon disease is characterized by craniosynostosis and facial hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl Crouzon syndrome|Cfd1|Crouzon's disease|craniofacial dysostosis, type 1|craniofacial dysostosis|craniofacial dysostosis type 1|Crouzon disease|Crouzon craniofacial dysostosis Orphanet:207|UMLS:CN200892|DOID:2339|NCIT:C84653|ICD10:Q75.1|GARD:0006206|MESH:D003394|SCTID:28861008|OMIM:123500 https://rarediseases.info.nih.gov/diseases/6206/crouzon-syndrome owl:Class MONDO:0044783 biolink:NamedThing solid papillary breast carcinoma A well circumscribed, low grade neoplasm that arises from the breast. It is characterized by the presence of sheets of malignant epithelial cells that are supported by fibrovascular structures. When there is an invasive component present, it is usually a mucinous carcinoma. tmpaxzxjjyw_mondo_relaxed.owl solid Papillary breast carcinoma|solid Papillary carcinoma of the breast NCIT:C6870|ONCOTREE:SPC owl:Class MONDO:0004582 biolink:NamedThing rheumatic myocarditis Inflammation of the myocardium in acute rheumatic heart disease. tmpaxzxjjyw_mondo_relaxed.owl acute rheumatic carditis|acute rheumatic myocarditis|acute rheumatic myocarditis (disorder) [ambiguous]|rheumatic degeneration of myocardium|rheumatic myocarditis|rheumatoid myocarditis|rheumatic fever with myocarditis|active rheumatic fever with myocarditis NCIT:C35202|ICD9:398.0|ICD10:M05.3|ICD9:391.9|ICD10:I01.9|ICD10:I09.0|UMLS:C0155557|SCTID:195136004|DOID:8481 owl:Class MONDO:0014844 biolink:NamedThing premature ovarian failure 12 Any primary ovarian failure in which the cause of the disease is a mutation in the SYCE1 gene. tmpaxzxjjyw_mondo_relaxed.owl SYCE1 primary ovarian failure|primary ovarian failure caused by mutation in SYCE1|POF12|premature ovarian failure 12|premature ovarian failure type 12|premature ovarian failure 12; POF12 OMIM:616947|UMLS:C4310782 owl:Class HGNC:1190 biolink:NamedThing NPAP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12665 biolink:NamedThing VCL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060759 biolink:NamedThing neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures tmpaxzxjjyw_mondo_relaxed.owl NEDAMSS|IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome|neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088|Orphanet:597623 https://github.com/monarch-initiative/mondo/issues/3541 owl:Class CL:0002553 biolink:NamedThing fibroblast of lung A fibroblast that is part of lung. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-0575|BTO:0000764 tmeehan 2011-02-28T05:11:03Z cell owl:Class CHEBI:25703 biolink:NamedThing organic phosphate tmpaxzxjjyw_mondo_relaxed.owl organic phosphate esters|organic phosphate ester|organic phosphate|organophosphate ester|organophosphate esters|organic phosphates owl:Class HGNC:10682 biolink:NamedThing SDHC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008709 biolink:NamedThing acrocephalopolydactyly Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. tmpaxzxjjyw_mondo_relaxed.owl acrocephalopolydactylous dysplasia|Elejalde syndrome GARD:0002096|ICD10:Q87.0|Orphanet:221054|UMLS:CN201238|GARD:0000486|UMLS:C3495588|MESH:C573722|SCTID:720417003|OMIM:200995 Editor note: check GARD owl:Class NCBITaxon:2732409 biolink:NamedThing Artverviricota tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class FOODON:03414381 biolink:NamedThing bovid A bovid (family *Bovidae*) is any of almost 140 species of cloven-hoofed, ruminant mammal which has males with characteristic unbranching horns covered in a permanent sheath of keratin. The family is widespread, being native to Asia, Africa, Europe and North America, and diverse: members include bison, African buffalo, water buffalo, antelopes, gazelles, sheep, goats, muskoxen, and domestic cattle. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015677 biolink:NamedThing cardiac diverticulum Congenital cardiac diverticulum (CCD) is a very rare congenital malformation characterized by a muscular appendix emerging from the left ventricular apex, rarely from the right ventricle or from both chambers, with clinical manifestations ranging from asymptomatic to life-threatening hemodynamic collapse. tmpaxzxjjyw_mondo_relaxed.owl Cardiac diverticulum|cardiac diverticulum (disease) cardiac diverticulum (disease) Orphanet:1686|UMLS:CN226726|GARD:0001094|ICD10:Q24.8|HP:0100571 owl:Class MONDO:0016087 biolink:NamedThing progressive non-infectious anterior vertebral fusion Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features. tmpaxzxjjyw_mondo_relaxed.owl Copenhagen syndrome Orphanet:2062|ICD10:Q87.8|UMLS:CN200850|SCTID:719268008|UMLS:C4304839 owl:Class MONDO:0018877 biolink:NamedThing retinitis punctata albescens tmpaxzxjjyw_mondo_relaxed.owl OMIM:136880|Orphanet:52427|UMLS:CN205224|SCTID:715562001|ICD10:H35.5 owl:Class MONDO:0002977 biolink:NamedThing autoimmune disorder of the nervous system A disorder characterized by the degeneration of the nervous system due to autoimmunity. Representative examples include multiple sclerosis, Guillain-Barre syndrome, and myasthenia gravis. tmpaxzxjjyw_mondo_relaxed.owl disease, neurologic autoimmune|neurologic autoimmune disease|nervous system autoimmune disease|nervous system autoimmune diseases|nervous system hypersensitivity reaction type II disease|autoimmune nervous system diseases|diseases, neurologic autoimmune|immune diseases, nervous system|nervous system immune disorders|autoimmune disease of nervous system|nervous system immune diseases|autoimmune disorders, nervous system|autoimmune diseases, neurologic|autoimmune diseases, nervous system|autoimmune nervous system disorder|neurologic autoimmune diseases|immune disorders, nervous system|autoimmune disease, neurologic|autoimmune disorders of the nervous system UMLS:C0751871|UMLS:C0751872|DOID:438|NCIT:C99383|MESH:D020274 owl:Class MONDO:0014147 biolink:NamedThing neuronal ceroid lipofuscinosis 13 Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene. tmpaxzxjjyw_mondo_relaxed.owl CTSF neuronal ceroid lipofuscinosis|neuronal ceroid lipofuscinosis type 13|ceroid lipofuscinosis, neuronal, type 13|CLN13|ceroid lipofuscinosis, neuronal, 13, Kufs type|neuronal ceroid lipofuscinosis caused by mutation in CTSF|CLN13 disease|neuronal ceroid lipofuscinosis 13 Kufs type|ceroid lipofuscinosis, neuronal, 13 DOID:0110727|ICD10:E75.4|Orphanet:79262|OMIM:615362|UMLS:C3715049|Orphanet:352709 owl:Class NCBITaxon:523103 biolink:NamedThing Trichophyton mentagrophytes tmpaxzxjjyw_mondo_relaxed.owl Spiralia mentagrophytes|Ctenomyces mentagrophytes|Microsporum mentagrophytes|Microides mentagrophytes|Arthroderma vanbreuseghemii|Ectotrichophyton mentagrophytes GC_ID:1 NCBITaxon:63407 ncbi_taxonomy owl:Class NCBITaxon:5550 biolink:NamedThing Trichophyton tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004949 biolink:NamedThing neoplasm of mature B-cells A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001). tmpaxzxjjyw_mondo_relaxed.owl mature B-cell neoplasms|mature B-cell lymphocytic neoplasm|mature B-cell neoplasm EFO:0000096|MESH:D008224|ICD9:202.0|ONCOTREE:MBN|NCIT:C3209|DOID:707|NCIT:C27910|DOID:706|NCIT:C3457|DOID:0050873|UMLS:C1334633|SCTID:269476000 Editor note: is a non-hodgkin in ONCOTREE owl:Class MONDO:0008914 biolink:NamedThing cardioauditory syndrome of Sanchez Cascos tmpaxzxjjyw_mondo_relaxed.owl Sanchez Cascos cardioauditory syndrome|cardioauditory syndrome of Sanchez Cascos OMIM:212100|UMLS:C1859329|GARD:0008519|MESH:C535577 https://rarediseases.info.nih.gov/diseases/8519/cardioauditory-syndrome-of-sanchez-cascos owl:Class GO:0055127 biolink:NamedThing vibrational conductance of sound to the inner ear The transmission of vibrations via ossicles to the inner ear. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003479 biolink:NamedThing thoracic cavity vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014346 biolink:NamedThing white sponge nevus 2 tmpaxzxjjyw_mondo_relaxed.owl WSN2|WHITE sponge NEVUS 2|White sponge Nevus type 2|white sponge nevus 2 UMLS:C4014321|Orphanet:171723|OMIM:615785 owl:Class GO:0016108 biolink:NamedThing tetraterpenoid metabolic process The chemical reactions and pathways involving tetraterpenoid compounds, terpenoids with eight isoprene units. tmpaxzxjjyw_mondo_relaxed.owl tetraterpene metabolism|tetraterpene metabolic process|tetraterpenoid metabolism owl:Class OBO:CHR_9606-chr16p13.1 biolink:NamedThing 16p13.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 16700000 10400000 hg38 owl:Class HGNC:18127 biolink:NamedThing TUBGCP6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9603 biolink:NamedThing PTGIS tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3694 biolink:NamedThing FGG tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1457286 biolink:NamedThing Dorylaimia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003911 biolink:NamedThing ciliary body mixed cell melanoma A mixed cell uveal melanoma that involves the ciliary body. tmpaxzxjjyw_mondo_relaxed.owl ciliary body mixed cell uveal melanoma|ciliary body mixed cell melanoma|mixed cell uveal melanoma of ciliary body NCIT:C35783|UMLS:C1333051|DOID:6523 owl:Class HGNC:19016 biolink:NamedThing TRIM44 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005879 biolink:NamedThing ocular toxoplasmosis Ocular toxoplasmosis is an infection in the eye caused by the parasite, Toxoplasm a gondii. Toxoplasmosis is the most common cause of eye inflammation in the world. Toxoplamosis can beacquired or present at birth (congenital), having crossed the placenta from a newly infected mother to her fetus. Most humans acquire toxoplasmosis by eating raw or undercooked meat, vegetables or milk products, or by coming into contact with infected cat litterbox or sandboxes.In humans,the infectionusually causes no symptoms, and resolves without treatment in a few months. In individuals with compromised immune systems, Toxoplasm a gondii can reactivate to cause disease. Reactivation of a congenital infection was traditionally thought to be the most common cause ofocular toxoplasmosis, but an acquired infection is now considered to be more common. A toxoplasmosis infection that affects the eye usually attacks the retina andinitially resolves without symptoms. However,the inactive parasite maylaterreactivate causing eyepain, blurred vision, and possibly permanent damage, including blindness. Although most cases of toxoplasmosis resolve on their own,for some,inflammation can be treated with antibiotics and steroids. tmpaxzxjjyw_mondo_relaxed.owl EFO:0007399|SCTID:416481006|ICD9:130.7|GARD:0007238|MESH:D014126|UMLS:C0040561 https://rarediseases.info.nih.gov/diseases/7238/ocular-toxoplasmosis owl:Class MONDO:0006622 biolink:NamedThing vulvar seborrheic keratosis A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation. tmpaxzxjjyw_mondo_relaxed.owl seborrheic keratosis of mammalian vulva|seborrheic keratosis of the vulva|seborrheic keratosis of vulva|mammalian vulva seborrheic keratosis DOID:6944|NCIT:C6375|UMLS:C1336981|EFO:1000779 owl:Class MONDO:0016776 biolink:NamedThing frontal fibrosing alopecia Frontal fibrosing alopecia (FFA) is a rare variant of lichen planopilaris characterized by symmetrical, progressive, band-like anterior hair loss of the scalp. tmpaxzxjjyw_mondo_relaxed.owl FFA UMLS:C4255374|ICD10:L66.1|Orphanet:254492|GARD:0010886|SCTID:717055000 https://rarediseases.info.nih.gov/diseases/10886/frontal-fibrosing-alopecia owl:Class MONDO:0032936 biolink:NamedThing myopathy, congenital, with respiratory insufficiency and bone fractures tmpaxzxjjyw_mondo_relaxed.owl MYORIBF|MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES OMIM:618822 owl:Class HP:0030191 biolink:NamedThing Abnormal peripheral nervous system synaptic transmission An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. tmpaxzxjjyw_mondo_relaxed.owl Abnormal PNS synaptic transmission UMLS:C4021046 human_phenotype owl:Class HP:0012535 biolink:NamedThing Abnormal synaptic transmission An anomaly in the communication from a neuron to a target across a synapse. This is a four step process, comprising (i) synthesis and storage of neurotransmitters; (ii) neurotransmitter release; (iii) activation of postsynaptic receptors by the neurotransmitter; and (iv) inactivation of the neurotransmitter. Thus, this term is defined as an anomaly of neurotransmitter metabolic process. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of neurotransmitter metabolism UMLS:C4021083 peter 2013-12-15T10:12:31Z human_phenotype owl:Class MONDO:0007867 biolink:NamedThing nonsyndromic congenital nail disorder 2 tmpaxzxjjyw_mondo_relaxed.owl congenital koilonychia|NDNC2|Koilonychia, hereditary|nail disorder, nonsyndromic congenital, 2|hereditary koilonychia|Koilonychia with leukonychia|nonsyndromic congenital nail disorder type 2|familial koilonychia|spoon nails GARD:0009760|MESH:C537260|ICD9:703.8|OMIM:149300|DOID:0080080|SCTID:66270006 owl:Class MONDO:0007085 biolink:NamedThing alopecia-epilepsy-pyorrhea-intellectual disability syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl Shokeir syndrome|alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality|alopecia, epilepsy, pyorrhea, mental subnormality|congenital universal alopecia, epilepsy, mental subnormality and pyorrhea MESH:C537057|ICD10:Q87.8|UMLS:C1863090|Orphanet:1008|OMIM:104130|GARD:0000607|SCTID:720980004 owl:Class MONDO:0007964 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 2 Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed) tmpaxzxjjyw_mondo_relaxed.owl CMM2|dysplastic nevus syndrome|familial dysplastic nevi|melanoma, cutaneous malignant, susceptibility to, 2|B-K Mole syndrome|Atypical Mole syndrome|susceptibility to cutaneous malignant melanoma 2|melanoma, cutaneous malignant, susceptibility to, type 2 NCIT:C7584|EFO:0004199|OMIM:155601|DOID:10041|Orphanet:618|MESH:D004416 owl:Class MONDO:0016618 biolink:NamedThing rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies tmpaxzxjjyw_mondo_relaxed.owl polyarthritis without rheumatoid factor without anti-nuclear antibodies|rheumatoid factor-negative JIA without anti-nuclear antibodies|juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies Orphanet:247861|ICD10:M08.3 owl:Class MONDO:0019432 biolink:NamedThing rheumatoid factor-negative juvenile idiopathic arthritis Rheumatoid factor-negative polyarthritis is a term used to describe a group of poorly defined heterogenous conditions that incorporates forms of rheumatoid factor-negative polyarthritis and forms of oligoarticular arthritis that become extensive in less than 6 months after onset. tmpaxzxjjyw_mondo_relaxed.owl rheumatoid factor-negative JIA|juvenile rheumatoid factor-negative polyarthritis|polyarthritis without rheumatoid factor Orphanet:85408|ICD10:M08.3 owl:Class CHEBI:78298 biolink:NamedThing environmental contaminant Any minor or unwanted substance introduced into the environment that can have undesired effects. tmpaxzxjjyw_mondo_relaxed.owl environmental contaminants owl:Class CL:0000127 biolink:NamedThing astrocyte A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury. tmpaxzxjjyw_mondo_relaxed.owl astrocytic glia BTO:0000099|CALOHA:TS-0060|FMA:54537 Astrocytes are reportedly CD68-negative, CD121a-positive, CD184-positive, CD192-positive, CRF-positive, EGFR-positive, GFAP-positive, GLUT1-positive, MBP-negative, and NGFR-positive. cell owl:Class GO:0001706 biolink:NamedThing endoderm formation The formation of the endoderm during gastrulation. tmpaxzxjjyw_mondo_relaxed.owl endoblast formation owl:Class MONDO:0054817 biolink:NamedThing leukodystrophy, hypomyelinating, 17 tmpaxzxjjyw_mondo_relaxed.owl leukodystrophy, hypomyelinating, 17|HLD17 OMIM:618006|UMLS:CN248514 owl:Class MONDO:0002578 biolink:NamedThing botryoid rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma arising from organs with a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. tmpaxzxjjyw_mondo_relaxed.owl botryoid-type embryonal rhabdomyosarcoma|botryoid sarcoma (morphologic abnormality)|sarcoma botryoides|botryoid sarcoma ICD9:171.9|SCTID:404052009|GARD:0009398|NCIT:C9150|DOID:3255|UMLS:C1306574|UMLS:C1306573 owl:Class MONDO:0015283 biolink:NamedThing maternally-inherited cardiomyopathy and hearing loss Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance. tmpaxzxjjyw_mondo_relaxed.owl maternally-inherited cardiomyopathy and deafness|tRNA-LYS-related cardiomyopathy-hearing loss syndrome ICD10:I42.8|Orphanet:1349|UMLS:CN199218 owl:Class MONDO:0010210 biolink:NamedThing xeroderma pigmentosum group A Any xeroderma pigmentosum in which the cause of the disease is a mutation in the XPA gene. tmpaxzxjjyw_mondo_relaxed.owl XPA xeroderma pigmentosum|xeroderma pigmentosum group A|xeroderma pigmentosum group type A|xeroderma pigmentosum, type 1|XP, group A|XP1|XP-A|XP group A|xeroderma pigmentosum complementation group A|XPA|xeroderma pigmentosum caused by mutation in XPA|xeroderma pigmentosum, complementation group A|xeroderma pigmentosum 1|xeroderma pigmentosum, complementation group type a OMIM:278700|GARD:0005624|SCTID:43477006|NCIT:C3965|UMLS:C0268135|Orphanet:276249|DOID:0110843|ICD10:Q82.1|Orphanet:910 owl:Class CL:0000498 biolink:NamedThing inhibitory interneuron An interneuron (also called relay neuron, association neuron or local circuit neuron) is a multipolar neuron which connects afferent neurons and efferent neurons in neural pathways. Like motor neurons, interneuron cell bodies are always located in the central nervous system (CNS). tmpaxzxjjyw_mondo_relaxed.owl FMA:84776 cell owl:Class MONDO:0010754 biolink:NamedThing van den Bosch syndrome Van den Bosch syndrome is characterized by intellectual deficit, choroideremia, acrokeratosis verruciformis, anhidrosis, and skeletal deformities. It has been observed in a single kindred. The syndrome is transmitted as an X-linked recessive trait and may be caused by a small X-chromosome deletion. tmpaxzxjjyw_mondo_relaxed.owl mental deficiency, choroideremia, acrokeratosis verruciformis,anhidrosis, skeletal deformity|van den Bosch syndrome UMLS:C0796192|Orphanet:3417|OMIM:314500|MESH:C563129|SCTID:733110004|GARD:0005453 https://rarediseases.info.nih.gov/diseases/5453/van-den-bosch-syndrome owl:Class HGNC:20305 biolink:NamedThing SLC34A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:25362 biolink:NamedThing elemental molecule A molecule all atoms of which have the same atomic number. tmpaxzxjjyw_mondo_relaxed.owl homoatomic molecules|homoatomic molecule owl:Class MONDO:0006588 biolink:NamedThing nonepidermolytic palmoplantar keratoderma Non-epidermolytic palmoplantar keratoderma is characterised by a diffuse non-epidermolytic palmoplantar keratoderma with frequent fungal infections. Prevalence in the general population is estimated at 1 in 40,000 but is much higher in northern Sweden (0.3-0.55%). Transmission is autosomal dominant and the causative gene has been localised to chromosome 12q11-q13. tmpaxzxjjyw_mondo_relaxed.owl diffuse nonepidermolytic palmomplantar keratoderma|Thost-Unna syndrome|autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type|diffuse palmoplantar keratoderma, Bothnian type|non-epidermolytic palmoplantar keratoderma|NEPPK|Unna-Thost syndrome|tylosis 2022-04-01 OMIM:600231|ICD10:Q82.8|UMLS:C0022584|DOID:0050428|OMIM:613000|SCTID:400123002|OMIM:600962|OMIM:615735|SCTID:716105001|EFO:1000743 Reason: duplicate. This will be merged with MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma Editor note: in ORDO this is AD but this leads to inconsistencies owl:Class MONDO:0003047 biolink:NamedThing thymic large cell neuroendocrine carcinoma An aggressive, non-small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and, almost always, necrosis. tmpaxzxjjyw_mondo_relaxed.owl large cell carcinoma of the Thymus|thymic large cell neuroendocrine carcinoma|thymus large cell neuroendocrine carcinoma|large cell neuroendocrine carcinoma of thymus|thymic LCNEC|large cell neuroendocrine carcinoma of Thymus|thymus large cell carcinoma|Thymus large cell carcinoma|large cell neuroendocrine carcinoma of the Thymus NCIT:C6461|UMLS:C1334364|DOID:4553 owl:Class OBO:CHR_9606-chr17q23.1-q23.2 biolink:NamedThing 17q23.1-q23.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0011185 biolink:NamedThing Thiel-Behnke corneal dystrophy Thiel-Behnke corneal dystrophy (TBCD) is a rare form of superficial corneal dystrophy characterized by sub-epithelial honeycomb-shaped corneal opacities in the superficial cornea, and progressive visual impairment. tmpaxzxjjyw_mondo_relaxed.owl corneal dystrophy of the Bowman layer type 2|CDB2|anterior limiting membrane dystrophy type II|corneal dystrophy honeycomb-shaped|corneal dystrophy, Thiel-Behnke type|Thiel-Behnke corneal dystrophy|corneal dystrophy of Bowman layer type 2|corneal dystrophy of Bowman Layer, type 2|anterior limiting membrane dystrophy type 2|corneal dystrophy Thiel Behnke type|TBCD|corneal dystrophy of Bowman layer type II|CDTB|corneal dystrophy honeycomb shaped|honeycomb corneal dystrophy|Thiel Behnke corneal dystrophy|corneal dystrophy, honeycomb-Shaped|curly fiber corneal dystrophy|Waardenburg-Jonker corneal dystrophy UMLS:C1562894|OMIM:602082|ICD10:H18.5|Orphanet:98960|GARD:0009275|MESH:C535942|DOID:0060455|ICD9:371.52|SCTID:417065002 https://rarediseases.info.nih.gov/diseases/9275/corneal-dystrophy-thiel-behnke-type owl:Class MONDO:0000764 biolink:NamedThing epithelial-stromal TGFBI dystrophy Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the TGFBI gene. tmpaxzxjjyw_mondo_relaxed.owl TGFBI corneal dystrophy (disease)|corneal dystrophy (disease) caused by mutation in TGFBI DOID:0060441 owl:Class MONDO:0003474 biolink:NamedThing tanycytic ependymoma A variant of ependymoma, often found in the spinal cord, with tumor cells arranged in fascicles of variable width and cell density. Ependymal rosettes are generally absent, so this lesion must be distinguished from astrocytic neoplasms, but its EM characteristics are ependymal. (Adapted from WHO.) tmpaxzxjjyw_mondo_relaxed.owl tanycytic ependymoma NCIT:C6903|UMLS:C1370500|DOID:5504 owl:Class GO:0010186 biolink:NamedThing positive regulation of cellular defense response Any process that activates or increases the frequency, rate or extent of cellular defense response. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cellular defence response|stimulation of cellular defense response|upregulation of cellular defense response|up regulation of cellular defense response|up-regulation of cellular defense response|activation of cellular defense response owl:Class UBERON:0035313 biolink:NamedThing posterior wall of laryngopharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010877 biolink:NamedThing Charcot-Marie-Tooth disease type 5 Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. tmpaxzxjjyw_mondo_relaxed.owl hereditary motor and sensory neuropathy type 5|peroneal muscular atrophy with pyramidal features, autosomal dominant|hereditary motor and sensory neuropathy with pyramidal features|Charcot-Marie-Tooth disease-pyramidal features syndrome|CMT with pyramidal features|hereditary motor and sensory neuropathy V|HMSN5|hereditary motor and sensory neuropathy 5|HMSN 5|Charcot-Marie-Tooth neuropathy with pyramidal features, autosomal dominant|Charcot-Marie-Tooth disease with pyramidal features, autosomal dominant GARD:0009208|SCTID:76043009|ICD10:G60.0|UMLS:CN074211|OMIM:600361|Orphanet:64751|DOID:0080067 owl:Class MONDO:0700127 biolink:NamedThing mosaic trisomy 21 Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class CHEBI:33719 biolink:NamedThing alpha-amino-acid cation tmpaxzxjjyw_mondo_relaxed.owl alpha-amino-acid cations|alpha-amino-acid cation|alpha-amino acid cations owl:Class OBO:CP_0000000 biolink:NamedThing neutrophillic cytoplasm Cytoplasm that exhibits a characteristic staining and color, pale-pink, with Wright-Giemsa stain. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-05-25T01:36:34Z cell owl:Class MONDO:0016397 biolink:NamedThing lysosomal disease with epilepsy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN201328|Orphanet:225681 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: lysosomal storage disease' MONDO_0002561 owl:Class HP:0030012 biolink:NamedThing Abnormal female reproductive system physiology tmpaxzxjjyw_mondo_relaxed.owl Abnormal female genital system physiology|Abnormal female reproductive system physiology UMLS:C4020714|UMLS:C4022678 human_phenotype owl:Class HP:0000080 biolink:NamedThing Abnormality of reproductive system physiology An abnormal functionality of the genital system. tmpaxzxjjyw_mondo_relaxed.owl Genital functional abnormality|Abnormality of reproductive system physiology|Abnormality of genital physiology UMLS:C4021820|UMLS:C4020896 human_phenotype owl:Class MONDO:0009546 biolink:NamedThing macrosomia adiposa congenita tmpaxzxjjyw_mondo_relaxed.owl macrosomia adiposa congenita MESH:C565425|OMIM:248100|UMLS:C1855468 owl:Class MONDO:0012027 biolink:NamedThing autoimmune disease, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl AIS2|autoimmune disease susceptibility locus, chromosome 7-related|vitiligo-associated multiple autoimmune disease susceptibility 3|autoimmune disease, susceptibility to, 2 OMIM:608391 owl:Class HGNC:16290 biolink:NamedThing TRIM33 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016079 biolink:NamedThing sporadic Creutzfeldt-Jakob disease Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD, and iatrogenic and variant CJD (vCJD). tmpaxzxjjyw_mondo_relaxed.owl sporadic CJD OMIM:123400|MESH:D007562|ICD9:046.19|ICD10:A81.0|SCTID:713060000|MedDRA:10011384|Orphanet:204 owl:Class UBERON:0004251 biolink:NamedThing hindlimb zeugopod bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036654 biolink:NamedThing wall of lateral ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007955 biolink:NamedThing Meckel diverticulum A congenital pouch in the distal ileum. It may cause painless rectal bleeding and bowel obstruction. tmpaxzxjjyw_mondo_relaxed.owl Meckel's diverticulum|persistent vitelline duct|Meckel diverticulum DOID:9487|OMIM:155140|MedDRA:10027055|NCIT:C12264|EFO:1001036|MESH:D008467|ICD9:751.0|SCTID:37373007|ICD10:Q43.0 owl:Class MONDO:0032707 biolink:NamedThing turnpenny-fry syndrome tmpaxzxjjyw_mondo_relaxed.owl TURNPENNY-FRY SYNDROME|TPFS|Neurocardioskeletal Syndrome OMIM:618371 owl:Class UBERON:0001044 biolink:NamedThing saliva-secreting gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2698 biolink:NamedThing DBT tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1698 biolink:NamedThing CD79A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021739 biolink:NamedThing prurigo A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl Prurigo|itchy skin eruption|prurigo|Itchy skin eruption|pruritic rash|Pruritic rash UMLS:C0033771|ICD9:698.8|SCTID:64144002|ICD9:698.2|MESH:D011536 owl:Class MONDO:0018212 biolink:NamedThing familial cervical artery dissection An instance of cervical artery dissection that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl familial CAD|hereditary CAD|hereditary cervical artery dissection ICD10:I72.5|UMLS:CN204734|ICD10:I72.0|Orphanet:36382 owl:Class HP:0100786 biolink:NamedThing Hypersomnia tmpaxzxjjyw_mondo_relaxed.owl Excessive sleepiness SNOMEDCT_US:77692006|MSH:D006970|UMLS:C0917799 doelkens 2011-06-07T06:15:07Z human_phenotype owl:Class HP:0002360 biolink:NamedThing Sleep disturbance An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. tmpaxzxjjyw_mondo_relaxed.owl Sleep disturbances|Trouble sleeping|Difficulty sleeping|Sleep dysfunction UMLS:C0037317|SNOMEDCT_US:53888004 human_phenotype owl:Class MONDO:0000784 biolink:NamedThing melon allergy A fruit allergy triggered by Cucumis melo plant fruit food product. tmpaxzxjjyw_mondo_relaxed.owl Cucumis melo fruit allergy DOID:0060509 owl:Class MONDO:0000778 biolink:NamedThing fruit allergy A food allergy triggered by a plant fruit product. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060503 owl:Class MONDO:0006533 biolink:NamedThing cholesteatoma of middle ear A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear. tmpaxzxjjyw_mondo_relaxed.owl cholesteatoma of the middle ear|cholesteatoma of middle ear and mastoid|middle ear cholesteatoma (disease)|cholesteatoma of middle ear and/or mastoid|cholesteatoma of middle ear|cholesteatoma (disease) of middle ear|Epidermosis of middle ear|unspecified cholesteatoma (morphologic abnormality)|Epidermosis of ear|middle ear cholesteatoma ICD9:385.32|SCTID:194339007|ICD10:H71|NCIT:C3654|EFO:1000678|ICD9:385.3|DOID:10964|MESH:D018424|UMLS:C0155490|ICD9:385.33 owl:Class MONDO:0006530 biolink:NamedThing cholesteatoma A pathologic process characterized by the proliferation of keratinizing squamous epithelium resulting in the accumulation of keratin and cells in the middle ear and/or mastoid. It may be congenital or acquired. If left untreated, it may increase in size and destroy adjacent structures. tmpaxzxjjyw_mondo_relaxed.owl congenital cholesteatoma (type)|primary acquired cholesteatoma (type)|cholesteatoma (disease)|secondary acquired cholesteatoma (type)|cholesteatoma cholesteatoma (disease) UMLS:C0008373|GARD:0010422|MESH:D002781|ICD10:H71.9|HP:0009797|SCTID:363668000|EFO:1000675|DOID:869|ICD10:H71.90|ICD9:385.30|NCIT:C2944 owl:Class ECTO:9000376 biolink:NamedThing exposure to formic acid An exposure to formic acid. tmpaxzxjjyw_mondo_relaxed.owl exposure to formic acid owl:Class NCBITaxon:6333 biolink:NamedThing Trichinella tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6332 biolink:NamedThing Trichinellidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001788 biolink:NamedThing nutmeg liver tmpaxzxjjyw_mondo_relaxed.owl chronic passive congestion of liver DOID:13739|SCTID:34736002|UMLS:C0156195|ICD9:573.0|ICD10:K76.1 owl:Class MONDO:0014269 biolink:NamedThing combined oxidative phosphorylation deficiency 19 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene. tmpaxzxjjyw_mondo_relaxed.owl LYRM4 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency caused by mutation in LYRM4|combined oxidative phosphorylation deficiency type 19|COXPD19|combined oxidative phosphorylation deficiency 19 UMLS:C3810055|Orphanet:397593|DOID:0111476|OMIM:615595 owl:Class NCBITaxon:55824 biolink:NamedThing Hirudinea tmpaxzxjjyw_mondo_relaxed.owl leeches GC_ID:1 NCBITaxon:6403 ncbi_taxonomy owl:Class NCBITaxon:42113 biolink:NamedThing Clitellata tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0024262 biolink:NamedThing massive neonatal aspiration syndrome tmpaxzxjjyw_mondo_relaxed.owl SCTID:10269001 owl:Class MONDO:0024263 biolink:NamedThing neonatal aspiration syndrome Aspiration of meconium, blood, amniotic fluid or gastric contents around the time of delivery resulting in clinical symptoms from airway obstruction, parenchymal injury, and ventilation-perfusion mismatch. This may lead to persistent pulmonary hypertension in the newborn. tmpaxzxjjyw_mondo_relaxed.owl SCTID:276533002|UMLS:C0349468|NCIT:C118312 Editor note: TODO axiomatize using ECTO owl:Class MONDO:0009758 biolink:NamedThing congenital stationary night blindness 1B Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene. tmpaxzxjjyw_mondo_relaxed.owl night blindness, congenital stationary, complete, autosomal recessive|CSNB, complete, autosomal recessive|congenital stationary night blindness 1B autosomal recessive|GRM6 congenital stationary night blindness|night blindness, congenital stationary, type 1B|CSNB1B|autosomal recessive complete congenital stationary night blindness|congenital stationary night blindness 1B|congenital stationary night blindness caused by mutation in GRM6|congenital stationary night blindness type 1B UMLS:C1850362|DOID:0110865|OMIM:257270 owl:Class MONDO:0016484 biolink:NamedThing Usher syndrome type 2 A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa. tmpaxzxjjyw_mondo_relaxed.owl USH2|Usher syndrome type 2 UMLS:C0339534|SCTID:232058008|DOID:0110827|Orphanet:231178|OMIM:611383|OMIM:605472|ICD10:H35.5|NCIT:C126328|OMIM:276901 owl:Class MONDO:0001057 biolink:NamedThing malignant gastric granular cell tumor A metastasizing granular cell tumor that arises from the stomach. tmpaxzxjjyw_mondo_relaxed.owl malignant gastric granular cell neoplasm|malignant granular cell neoplasm of stomach|malignant granular cell stomach tumor|malignant gastric granular cell tumor|malignant granular cell tumor of stomach|malignant granular cell neoplasm of the stomach|malignant granular cell tumor of the stomach|malignant granular cell stomach neoplasm DOID:10536|NCIT:C5484|UMLS:C1334585 owl:Class MONDO:0014773 biolink:NamedThing cardiac anomalies - developmental delay - facial dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl cardiac anomalies - developmental delay - facial dysmorphism syndrome|intellectual disability and distinctive facial features with or without cardiac defects|MED13L haploinsufficiency syndrome|MRFACD|mental retardation and distinctive FACIAL features with or without CARDIAC defects|mental retardation and distinctive Facial features with or without Cardiac defects|MED13L syndrome|intellectual disability and distinctive FACIAL features with or without CARDIAC defects|intellectual disability and distinctive Facial features with or without Cardiac defects UMLS:C4225208|GARD:0012999|HGNC:22962|ICD10:Q87.8|OMIM:616789|Orphanet:369891 owl:Class HGNC:14344 biolink:NamedThing C1QTNF5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004190 biolink:NamedThing nephrogenic adenoma of urinary bladder A metaplastic lesion of the urothelium found in the urinary bladder. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. tmpaxzxjjyw_mondo_relaxed.owl urinary bladder nephrogenic adenoma|nephrogenic adenoma of the urinary bladder NCIT:C7415|DOID:7333|UMLS:C1336892 owl:Class MONDO:0004026 biolink:NamedThing skin tag A small, benign growth that arises from the skin. It is characterized by the presence of fibrovascular tissue lined by epidermis. It may be sessile or pendulous and usually occurs in sites where there is friction. tmpaxzxjjyw_mondo_relaxed.owl fibroma molle|acrochordon|soft fibroma|fibroepithelial polyp of the skin|fibroepithelial polyp|fibroepithelial polyp of skin|cutaneous fibroepithelial polyp|cutaneous tag SCTID:201091002|UMLS:C0037293|DOID:6873|NCIT:C3374 owl:Class MONDO:0042487 biolink:NamedThing uterine cervix carcinoma in situ Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003 tmpaxzxjjyw_mondo_relaxed.owl severe dysplasia of the uterine cervix aJCC v6|severe dysplasia of the cervix aJCC v6|intraepithelial neoplasia of cervix uteri grade 3 aJCC v6|carcinoma in situ of uterine cervix aJCC v6|cervix carcinoma in situ aJCC v6|CIN III|cervical intraepithelial neoplasia grade III with severe dysplasia|severe dysplasia of uterine cervix aJCC v6|carcinoma in situ of cervix aJCC v6|FIGO stage 0 cervical carcinoma|cervical intraepithelial neoplasia grade 3 aJCC v6|carcinoma in situ of the cervix aJCC v6|carcinoma in situ of the cervix uteri aJCC v6|cervix uteri carcinoma in situ aJCC v6|carcinoma in situ of cervix|cervix uteri intraepithelial neoplasia grade 3 aJCC v6|severe dysplasia of cervix|carcinoma in situ of uterine cervix|intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6|FIGO stage 0 cervix carcinoma|uterine cervix carcinoma in situ aJCC v6|FIGO stage 0 carcinoma of cervix|cervix uteri Severe dysplasia aJCC v6|stage 0 cervical cancer aJCC v6|intraepithelial neoplasia of uterine cervix grade 3 aJCC v6|FIGO stage 0 cervix uteri carcinoma|squamous intraepithelial neoplasia, grade III|grade 3 cervical intraepithelial neoplasia aJCC v6|cervical Severe dysplasia aJCC v6|FIGO stage 0 carcinoma of the cervix|stage 0 uterine cervix carcinoma|severe dysplasia of cervix uteri aJCC v6|intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6|severe cervical dysplasia aJCC v6|carcinoma in situ of cervix uteri aJCC v6|CIN III - carcinoma in situ of cervix|carcinoma of cervix stage 0|cervical cancer stage 0 aJCC v6|cervix intraepithelial neoplasia grade 3 aJCC v6|stage 0 cervical cancer|FIGO stage 0 uterine cervix carcinoma|FIGO stage 0 carcinoma of the cervix uteri|uterine cervix Severe dysplasia aJCC v6|uterine cervix intraepithelial neoplasia grade 3 aJCC v6|cervix Ca in situ|CIN 3 aJCC v6|FIGO stage 0 carcinoma of uterine cervix|CIN III - severe dyskaryosis|cervix Severe dysplasia aJCC v6|FIGO stage 0 carcinoma of cervix uteri|intraepithelial neoplasia of cervix grade 3 aJCC v6|cervix uteri carcinoma in situ|severe dysplasia of cervix aJCC v6|carcinoma in situ of the uterine cervix aJCC v6|CIN grade 3 aJCC v6|FIGO stage 0 carcinoma of the uterine cervix|intraepithelial neoplasia of the cervix grade 3 aJCC v6|severe dysplasia of the cervix uteri aJCC v6|cervical carcinoma in situ aJCC v6 NCIT:C4000|ICD10CM:D06.9|UMLS:C0851140|DOID:8991|ICD10:D06.9|ICD10CM:D06|ICD9:233.1|ICD10:D06|SCTID:254889004|MESH:D018290 owl:Class MONDO:0004710 biolink:NamedThing uterus carcinoma in situ A carcinoma in situ involving a uterus. tmpaxzxjjyw_mondo_relaxed.owl uterus in situ carcinoma|carcinoma in situ of uterus|stage 0 uterus carcinoma DOID:9108|ICD9:233.2|SCTID:92788005|UMLS:C0686237 owl:Class MONDO:0100033 biolink:NamedThing metabolic epilepsy Metabolic epilepsies are conceptualized as having a distinct metabolic abnormality that has been demonstrated to be associated with a substantially increased risk of developing epilepsy in appropriately designed studies. Metabolic disorders have genetic origin; however, the metabolic abnormalities are a separate disorder interposed between the genetic defect and the epilepsy. tmpaxzxjjyw_mondo_relaxed.owl 2018-06-23 18:55:00+00:00 owl:Class ECTO:9001804 biolink:NamedThing exposure to protein synthesis inhibitor An exposure to protein synthesis inhibitor. tmpaxzxjjyw_mondo_relaxed.owl exposure to protein synthesis inhibitor owl:Class MONDO:0008137 biolink:NamedThing orofaciodigital syndrome X Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993. tmpaxzxjjyw_mondo_relaxed.owl orofaciodigital syndrome type X|orofaciodigital syndrome type Figuera|oral-Facial-digital syndrome, type 10|oral-facial-digital syndrome 10|oral-Facial-digital syndrome with fibular aplasia|oral facial digital syndrome 10|Figuera syndrome|orofaciodigital syndrome 10|orofaciodigital syndrome type 10|OFD syndrome 10|OFD10|Ofds 10|oral-facial-digital syndrome type 10|orofaciodigital syndrome with fibular aplasia|orofaciodigital syndrome X|oral facial digital syndrome type 10 ICD10:Q87.0|GARD:0004061|UMLS:C1833796|Orphanet:2756|MESH:C563491|DOID:0060380|OMIM:165590|SCTID:722075004 https://rarediseases.info.nih.gov/diseases/4061/orofaciodigital-syndrome-10 owl:Class MONDO:0002033 biolink:NamedThing cecum cancer A malignant neoplasm involving the caecum tmpaxzxjjyw_mondo_relaxed.owl caecum cancer|malignant cecum neoplasm|malignant tumor of the cecum|malignant neoplasm of the cecum|malignant neoplasm of caecum|malignant neoplasm of cecum|malignant caecum neoplasm|cancer of caecum|malignant tumor of cecum|malignant cecum tumor MESH:D002430|ICD10:C18.0|DOID:1521|UMLS:C0153437|NCIT:C9329|ICD9:153.4 owl:Class GO:0009314 biolink:NamedThing response to radiation Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation. tmpaxzxjjyw_mondo_relaxed.owl response to radiation stimulus|response to electromagnetic radiation stimulus owl:Class MONDO:0021093 biolink:NamedThing cranioectodermal dysplasia 1 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene. tmpaxzxjjyw_mondo_relaxed.owl cranioectodermal dysplasia caused by mutation in IFT122|cranioectodermal dysplasia type 1|IFT122 cranioectodermal dysplasia|CED1|Sensenbrenner syndrome|cranioectodermal dysplasia 1|Levin syndrome 1 UMLS:C0432235|OMIM:218330|Orphanet:1515 owl:Class MONDO:0004239 biolink:NamedThing cervical keratinizing squamous cell carcinoma A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present. tmpaxzxjjyw_mondo_relaxed.owl cervical keratinizing squamous cell carcinoma UMLS:C1517658|DOID:7483|NCIT:C40187 owl:Class MONDO:0005056 biolink:NamedThing keratinizing squamous cell carcinoma Squamous cell carcinomas with morphologically prominent production of keratin. tmpaxzxjjyw_mondo_relaxed.owl keratinizing squamous cell carcinoma|squamous cell carcinoma, keratinizing (morphologic abnormality)|squamous cell carcinoma, keratinizing|keratinizing epidermoid carcinoma DOID:5521|EFO:0000559|NCIT:C4105|ICDO:8071/3|UMLS:C0334247 owl:Class MONDO:0019647 biolink:NamedThing congenital bilateral megacalycosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93177|ICD10:Q63.8 owl:Class MONDO:0019639 biolink:NamedThing congenital megacalycosis Congenital megacalycosis is a rare renal malformation, characterized by non-obstructive dilation of the renal calyces as well as an increased calyceal number (12-20), with a normal renal pelvis, ureter, and bladder. It may be unilateral or bilateral and is usually asymptomatic unless complicated by nephrolithiasis and urinary tract infection. tmpaxzxjjyw_mondo_relaxed.owl ICD9:753.3|Orphanet:93109|ICD10:Q63.8|SCTID:85901000 owl:Class MONDO:0060664 biolink:NamedThing neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities|NEDMCR UMLS:CN889218|OMIM:617913 owl:Class MONDO:0005983 biolink:NamedThing tinea favosa A severe, chronic fungal skin infection, usually of the scalp, characterized by the development of thick, yellow cup-shaped crusts and scarring over hair follicles. tmpaxzxjjyw_mondo_relaxed.owl favus EFO:0007511|ICD10:B35|NCIT:C35072|SCTID:85375000|MESH:D014007|UMLS:C0040254|DOID:4336 owl:Class MONDO:0019127 biolink:NamedThing polymyositis Polymyositis (PM) is a rare idiopathic inflammatory myopathy characterized by symmetric proximal muscle weakness and elevated muscle enzymes. tmpaxzxjjyw_mondo_relaxed.owl PM|polymyositis ICD9:710.4|NCIT:C26925|Orphanet:732|MedDRA:10036102|EFO:0003063|MESH:D017285|GARD:0007425|UMLS:C0085655|Wikipedia:Polymyositis|ICD10:M33.2|SCTID:31384009 owl:Class PATO:0000404 biolink:NamedThing coiled A shape quality inhering in a bearer by virtue of the bearer's being curled or wound (especially in concentric rings or spirals). tmpaxzxjjyw_mondo_relaxed.owl helicoid|helix-shaped|helicoidal|spiral|helical owl:Class PATO:0001794 biolink:NamedThing coiling A shape quality inhering in a bearer by virtue of the bearer's being wound in a continuous series of loops. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016583 biolink:NamedThing familial intestinal malrotation-facial anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl intestinal malrotation facial anomalies familial type|Stalker Chitayat syndrome|Stalker-Chitayat syndrome GARD:0005000|ICD10:Q43.3|Orphanet:2454|OMIM:193250 owl:Class MONDO:0008666 biolink:NamedThing volvulus of midgut A congenital abnormality in which the intestine is abnormally rotated (twisted). It may result in intestinal obstruction. tmpaxzxjjyw_mondo_relaxed.owl congenital malrotation of intestine|volvulus of midgut|intestinal malrotation|intestinal malrotation, familial Orphanet:2454|NCIT:C98961|SCTID:458422009|OMIM:193250|MESH:C562456 owl:Class HGNC:1838 biolink:NamedThing CECR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043114 biolink:NamedThing Landy-Donnai syndrome tmpaxzxjjyw_mondo_relaxed.owl hydrops, ectrodactyly, syndactyly, duplication of the great toes GARD:0003172|UMLS:C2931460|MESH:C537266 owl:Class MONDO:0002982 biolink:NamedThing peripheral primitive neuroectodermal tumor of soft tissues A small round cell tumor with neural differentiation arising from the soft tissues. tmpaxzxjjyw_mondo_relaxed.owl soft tissue peripheral neuroepithelioma|peripheral neuroectodermal tumor of the soft tissues|peripheral neuroepithelioma of soft tissues|peripheral neuroectodermal tumor of soft tissues|peripheral primitive neuroectodermal tumor of soft tissues|peripheral neuroepithelioma of the soft tissues NCIT:C27471|UMLS:C1112437|DOID:4389 owl:Class MONDO:0019210 biolink:NamedThing cutaneous neuroendocrine carcinoma Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)). tmpaxzxjjyw_mondo_relaxed.owl Merkel cell tumor|Merkel cell cancer|carcinoma of Merkel cell|trabecular skin carcinoma|trabecular cancer|Merkle tumors|cutaneous neuroendocrine carcinoma|MCC|neuroendocrine carcinoma of skin|carcinoma, Merkel cell|neuroendocrine skin carcinoma|Merkel cell carcinoma|cutaneous APUDoma|neuroendocrine carcinoma of the skin ICD9:209.36|Orphanet:79140|ONCOTREE:MCC|UMLS:C0007129|ICD10:C44.3|ICD10:C44.6|NCIT:C9231|GARD:0009266|SCTID:253001006|ICD10:C44.7|EFO:1001471|MESH:D015266|ICDO:8247/3 owl:Class MONDO:0013699 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 4 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene. tmpaxzxjjyw_mondo_relaxed.owl PMS2 hereditary nonpolyposis colon cancer|hereditary nonpolyposis colon cancer caused by mutation in PMS2|colorectal cancer, hereditary nonpolyposis, type 4|HNPCC4 MESH:C563971|OMIM:614337|DOID:0070275|Orphanet:144|UMLS:C1838333 owl:Class MONDO:0007979 biolink:NamedThing metachondromatosis Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions. tmpaxzxjjyw_mondo_relaxed.owl metachondromatosis|METACHONDROMATOSIS|METCDS DOID:0111512|OMIM:156250|MESH:C562938|ICD9:756.59|GARD:0003560|UMLS:C0410530|SCTID:205481009|ICD10:Q78.4|Orphanet:2499 https://rarediseases.info.nih.gov/diseases/3560/metachondromatosis owl:Class MONDO:0009433 biolink:NamedThing hypoplastic left heart syndrome 1 Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene. tmpaxzxjjyw_mondo_relaxed.owl HLHS1|GJA1 hypoplastic left heart syndrome|hypoplastic left heart syndrome type 1|hypoplastic left heart syndrome caused by mutation in GJA1|HLHS|hypoplastic left heart syndrome 1 OMIM:241550|OMIM:614435|UMLS:CN031062|UMLS:C0152101 owl:Class MONDO:0014467 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate D Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive intermediate Charcot-Marie-Tooth disease type D|Charcot-Marie-Tooth disease, recessive Intermediate type D|CMTRID|Charcot-Marie-Tooth disease recessive intermediate type D|COX6A1 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, recessive intermediate D|RI-CMT type D|Charcot-Marie-Tooth disease caused by mutation in COX6A1 OMIM:616039|DOID:0110203|Orphanet:435998|UMLS:C4015029|ICD10:G60.0 owl:Class UBERON:0000466 biolink:NamedThing immaterial anatomical entity tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:26575 biolink:NamedThing PRIMPOL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016478 biolink:NamedThing Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion tmpaxzxjjyw_mondo_relaxed.owl Orphanet:231130|UMLS:CN201473|ICD10:Q87.3 owl:Class HGNC:12412 biolink:NamedThing TUBB2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008256 biolink:NamedThing platelet membrane fluidity tmpaxzxjjyw_mondo_relaxed.owl PMF|platelet membrane fluidity OMIM:173560 owl:Class MONDO:0009083 biolink:NamedThing conductive deafness-malformed external ear syndrome tmpaxzxjjyw_mondo_relaxed.owl conductive hearing loss and malformed low-set ears|conductive deafness with malformed external ear|Ear deformity and conductive hearing loss|familial congenital moderate neural hearing loss|deafness, conductive, with malformed external EAR|conductive hearing loss-malformed external ear syndrome|conductive deafness - malformed external ear|Mengel-Konigsmark syndrome Orphanet:3216|UMLS:C1857341|MESH:C565644|GARD:0001460|OMIM:221300 owl:Class HP:0000568 biolink:NamedThing Microphthalmia A developmental anomaly characterized by abnormal smallness of one or both eyes. tmpaxzxjjyw_mondo_relaxed.owl Abnormally small globe of eye|Abnormally small eyeball|Decreased size of globe of eye|Nanophthalmos|Decreased size of eyeball|Microphthalmos Fyler:4877|UMLS:C0026010|MSH:D008850|UMLS:C4280625|UMLS:C4280808|SNOMEDCT_US:61142002|SNOMEDCT_US:204108000 HP:0007996 human_phenotype owl:Class MONDO:0017041 biolink:NamedThing osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance. tmpaxzxjjyw_mondo_relaxed.owl Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome Orphanet:2653|SCTID:722108000|UMLS:CN202358 owl:Class MONDO:0060564 biolink:NamedThing HELIX syndrome tmpaxzxjjyw_mondo_relaxed.owl HELIX syndrome|HELIX|hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome|hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia Orphanet:528105|OMIM:617671|UMLS:C4522164 owl:Class MONDO:0001428 biolink:NamedThing pylorospasm tmpaxzxjjyw_mondo_relaxed.owl SCTID:335002|UMLS:C0152163|ICD9:537.81|DOID:12072 owl:Class HGNC:4114 biolink:NamedThing GAL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004852 biolink:NamedThing gonococcal keratitis tmpaxzxjjyw_mondo_relaxed.owl SCTID:40149008|ICD9:098.43|ICD10:A54.33|DOID:9697|UMLS:C0153214 owl:Class ENVO:01001838 biolink:NamedThing arid biome A biome which is subject to arid environmental conditions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002196 biolink:NamedThing perinatal intestinal perforation tmpaxzxjjyw_mondo_relaxed.owl ICD10:P78.0|ICD9:777.6|UMLS:C0159006|DOID:2073|SCTID:65390006 owl:Class MONDO:0006807 biolink:NamedThing intestinal perforation A rupture in the wall of the small or large intestine due to traumatic or pathologic processes. tmpaxzxjjyw_mondo_relaxed.owl perforation of intestine|bowel perforation ICD10:P78.0|ICD9:777.6|MedDRA:10022694|NCIT:C39611|UMLS:C0021845|DOID:2074|SCTID:56905009|EFO:1000987|MESH:D007416|ICD9:569.83 owl:Class MONDO:0012726 biolink:NamedThing autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures. tmpaxzxjjyw_mondo_relaxed.owl angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps|hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome|HANAC syndrome|HANAC|hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome OMIM:611773|SCTID:702428000|Orphanet:73229|ICD10:I99|GARD:0010889|MESH:C567088|ICD9:758.89|UMLS:C2673195 owl:Class CL:0000666 biolink:NamedThing fenestrated cell tmpaxzxjjyw_mondo_relaxed.owl window cell cell owl:Class MONDO:0024311 biolink:NamedThing cancer affecting bone of limb skeleton A cancer that involves the limb bone. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of limb bone|malignant limb bone neoplasm|limb bone cancer|cancer of limb bone ICD10:C40 owl:Class MONDO:0017907 biolink:NamedThing primary lymphoma of the conjunctiva Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare. tmpaxzxjjyw_mondo_relaxed.owl primary organ-specific lymphoma of conjunctiva|conjunctiva primary organ-specific lymphoma|conjunctiva lymphoma|lymphoma of conjunctiva|primary lymphoid conjunctival tumor UMLS:CN203974|ICD10:C85.7|SCTID:763477007|Orphanet:319667 owl:Class HGNC:1630 biolink:NamedThing CD151 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3433 biolink:NamedThing ERCC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0033684 biolink:NamedThing regulation of luteinizing hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of luteinizing hormone. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000001 biolink:NamedThing peripheral blood mononuclear cell A leukocyte with a single non-segmented nucleus in the mature form found in the circulatory pool of blood. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-02-11T17:29:04Z cell owl:Class GO:0001819 biolink:NamedThing positive regulation of cytokine production Any process that activates or increases the frequency, rate or extent of production of a cytokine. tmpaxzxjjyw_mondo_relaxed.owl stimulation of cytokine production|activation of cytokine production|positive regulation of cytokine secretion|up-regulation of cytokine production|up regulation of cytokine production|upregulation of cytokine production|positive regulation of cytokine biosynthetic process owl:Class MONDO:0015179 biolink:NamedThing intestinal disease due to vitamin absorption anomaly tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197521|Orphanet:104004 owl:Class GO:1905902 biolink:NamedThing regulation of mesoderm formation Any process that modulates the frequency, rate or extent of mesoderm formation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015001 biolink:NamedThing radius endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001689 biolink:NamedThing hypertrophy of tongue papillae tmpaxzxjjyw_mondo_relaxed.owl tongue papillary hypertrophy SCTID:6971002|UMLS:C0392494|ICD10:K14.3|DOID:13333|ICD9:529.3 owl:Class ECTO:7000058 biolink:NamedThing exposure to gaseous environmental material A exposure event involving the interaction of an exposure receptor to gaseous environmental material. tmpaxzxjjyw_mondo_relaxed.owl gaseous environmental material exposure owl:Class NCBITaxon:2499399 biolink:NamedThing Cornidovirineae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:76804 biolink:NamedThing Nidovirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005901 biolink:NamedThing pasteurellosis Infections with bacteria of the genus pasteurella. tmpaxzxjjyw_mondo_relaxed.owl Pasteurella infection|Pasteurella disease or disorder|Pasteurella caused disease or disorder|Pasteurella infectious disease EFO:0007424|MESH:D010326|UMLS:C0030636|SCTID:83172007|ICD10:A28.0|DOID:11055|ICD9:027.2 owl:Class MONDO:0012260 biolink:NamedThing cataract 35 A cataract that has material basis in variation in the region 19q13. tmpaxzxjjyw_mondo_relaxed.owl cataract 35, congenital nuclear|CATCN1|CTRCT35|cataract type 35|autosomal recessive congenital nuclear cataract 1|cataract, congenital nuclear, autosomal recessive 1|cataract 35 DOID:0110261|UMLS:C1836272|MESH:C563728|Orphanet:98991|Orphanet:91492|ICD10:Q12.0|OMIM:609376 owl:Class MONDO:0020376 biolink:NamedThing early-onset nuclear cataract tmpaxzxjjyw_mondo_relaxed.owl OMIM:607304|OMIM:610019|MedDRA:10007759|Orphanet:98991|UMLS:CN207247|MedDRA:10057735|ICD10:Q12.0|OMIM:609376|OMIM:611391|OMIM:116400|MESH:C563333 owl:Class MONDO:0014646 biolink:NamedThing Zimmermann-Laband syndrome 2 Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene. tmpaxzxjjyw_mondo_relaxed.owl Zimmermann-Laband syndrome type 2|ATP6V1B2 Zimmermann-Laband syndrome|Zimmermann-Laband syndrome 2|Zimmermann-Laband syndrome caused by mutation in ATP6V1B2|ZLS2 Orphanet:3473|OMIM:616455|UMLS:C4225321 owl:Class MONDO:0000262 biolink:NamedThing otomycosis Fungus infection of the external ear, usually by aspergillus species tmpaxzxjjyw_mondo_relaxed.owl otitis mycotic externa|Singapore ear|external ear fungal infectious disease ICD9:111.8|UMLS:C0029895|MESH:D059249|DOID:0050147|SCTID:53316003 owl:Class MONDO:0024625 biolink:NamedThing disorder of lacrimal gland A disease that involves the lacrimal gland. tmpaxzxjjyw_mondo_relaxed.owl disease of lacrimal gland|disorder of lacrimal gland|lacrimal gland disease|disease or disorder of lacrimal gland|lacrimal gland disease or disorder UMLS:C0235228|SCTID:95766002 owl:Class MONDO:0015679 biolink:NamedThing autosomal thrombocytopenia with normal platelets tmpaxzxjjyw_mondo_relaxed.owl OMIM:273900|ICD10:D69.4|Orphanet:168629|OMIM:612004|UMLS:CN200175|OMIM:188000 owl:Class UBERON:0018117 biolink:NamedThing left renal cortex interstitium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001071 biolink:NamedThing intellectual disability A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group. tmpaxzxjjyw_mondo_relaxed.owl mental retardation|intellectual disability|intellectual disabilities SCTID:91138005|MESH:D008607|Orphanet:319658|GARD:0011963|ICD10:F70.F79|DOID:1059|EFO:0003847|NCIT:C97250|ICD9:319 owl:Class HGNC:14631 biolink:NamedThing ADAMTSL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033486 biolink:NamedThing leukodystrophy, hypomyelinating, 14 tmpaxzxjjyw_mondo_relaxed.owl HLD14|leukodystrophy, hypomyelinating, 14|hypomyelinating leukodystrophy 14 UMLS:CN845004|DOID:0080296|OMIM:617899 owl:Class MONDO:0001310 biolink:NamedThing Bowman's membrane folds or rupture tmpaxzxjjyw_mondo_relaxed.owl Bowman membrane folds or rupture|folds and/or rupture of bowman's membrane ICD9:371.31|UMLS:C0155115|SCTID:45382000|ICD10:H18.31|DOID:11552 owl:Class MONDO:0032614 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2|EV2 OMIM:618231 owl:Class MONDO:0006698 biolink:NamedThing cholecystolithiasis Single or multiple, ovoid or irregular, solid particles that are formed from bile, cholesterol, and calcium in the gallbladder cavity. tmpaxzxjjyw_mondo_relaxed.owl SCTID:235919008|MedDRA:10049890|DOID:11151|EFO:1000864|NCIT:C34443|UMLS:C0947622|MESH:D041761 owl:Class MONDO:0600027 biolink:NamedThing congenital right-sided heart lesions Serious heritable structural anomalies of the right side of the heart, including pulmonary atresia, tricuspid valve disease and Ebstein's anomaly, and right ventricular outflow tract obstruction and/or pulmonary stenosis, that are present from birth. tmpaxzxjjyw_mondo_relaxed.owl EFO:0600032 http://orcid.org/0000-0002-5460-8025 owl:Class UBERON:0005625 biolink:NamedThing tubotympanic recess lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017514 biolink:NamedThing split foot, bilateral tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q72.7|ICD10:Q72.73|Orphanet:295126 owl:Class MONDO:0017450 biolink:NamedThing split foot tmpaxzxjjyw_mondo_relaxed.owl split foot (disease)|split foot split foot (disease) Orphanet:294994|HP:0001839|ICD10:Q72.7|SCTID:205358006 owl:Class MONDO:0003757 biolink:NamedThing paraplegia Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl severe or complete loss of motor function in the lower extremities and lower portions of the trunk|paraplegia, lower NCIT:C50687|SCTID:60389000|GARD:0007327|ICD10:G82.20|UMLS:C0030486|ICD9:344.1|MESH:D010264|ICD10:G82.2|DOID:607 https://rarediseases.info.nih.gov/diseases/7327/paraplegia owl:Class CHEBI:50183 biolink:NamedThing P450 inhibitor An enzyme inhibitor that interferes with the activity of cytochrome P450 involved in catalysis of organic substances. tmpaxzxjjyw_mondo_relaxed.owl CYP2D6 inhibitors|CYP2D6 inhibitor|CYP2D6 inhbitor|cytochrome P450 inhibitors|cytochrome P450 inhibitor|P450 inhibitors|CYP2D6 inhbitors owl:Class CHEBI:76898 biolink:NamedThing EC 1.14.14.1 (unspecific monooxygenase) inhibitor An EC 1.14.14.* (oxidoreductase acting on paired donors, incorporating of 1 atom of oxygen, with reduced flavin or flavoprotein as one donor) inhibitor that interferes with the action of an unspecified monooxygenase (EC 1.14.14.1). tmpaxzxjjyw_mondo_relaxed.owl aryl hydrocarbon hydroxylase inhibitors|flavoprotein monooxygenase inhibitors|EC 1.14.14.1 inhibitor|xenobiotic monooxygenase inhibitor|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidising) inhibitors|microsomal P-450 inhibitor|EC 1.14.14.1 (unspecific monooxygenase) inhibitors|microsomal monooxygenase inhibitor|aryl-4-monooxygenase inhibitor|aryl hydrocarbon hydroxylase inhibitor|flavoprotein-linked monooxygenase inhibitors|microsomal monooxygenase inhibitors|aryl-4-monooxygenase inhibitors|substrate,reduced-flavoprotein:oxygen oxidoreductase (RH-hydroxylating or -epoxidising) inhibitor|EC 1.14.14.1 inhibitors|flavoprotein-linked monooxygenase inhibitor|unspecific monooxygenase (EC 1.14.14.1) inhibitor|unspecific monooxygenase (EC 1.14.14.1) inhibitors|unspecific monooxygenase inhibitor|xenobiotic monooxygenase inhibitors|microsomal P-450 inhibitors|flavoprotein monooxygenase inhibitor|unspecific monooxygenase inhibitors owl:Class MONDO:0013937 biolink:NamedThing peroxisome biogenesis disorder 6B tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder 6B|PBD6B|peroxisome biogenesis disorder type 6B OMIM:614871|UMLS:C3553948|Orphanet:772|NCIT:C155759|Orphanet:44 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100264 biolink:NamedThing peroxisome biogenesis disorder due to PEX10 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX10 gene. tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX10 defect|PEX10 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class NCBITaxon:121221 biolink:NamedThing Pediculidae tmpaxzxjjyw_mondo_relaxed.owl body lice|primate body lice GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002645 biolink:NamedThing cerebritis Inflammation of the cerebrum. tmpaxzxjjyw_mondo_relaxed.owl cerebral hemisphere inflammation|inflammation of cerebral hemisphere NCIT:C27199|DOID:3431|UMLS:C0742115 owl:Class MONDO:0018653 biolink:NamedThing Polymerase proofreading-related adenomatous polyposis tmpaxzxjjyw_mondo_relaxed.owl Polymerase proofreading-related adenomatous polyposis|PPAP Orphanet:447877|OMIM:612591|NCIT:C162484|ICD10:D12.6|OMIM:615083 owl:Class MONDO:0016362 biolink:NamedThing attenuated familial adenomatous polyposis Attenuated familial adenomatous polyposis (AFAP) is a mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer (CRC) onset and a more limited expression of the extracolonic features. tmpaxzxjjyw_mondo_relaxed.owl attenuated familial polyposis coli|attenuated familial adenomatous polyposis|mild form of FAP|hereditary flat adenoma syndrome|HFAS|attenuated adenomatous polyposis coli|attenuated FAP|AAPC|AFAP OMIM:615083|ICD10:D12.6|OMIM:175100|MESH:C538265|OMIM:616415|OMIM:608456|NCIT:C6729|UMLS:C2674616|OMIM:612591|GARD:0008532|Orphanet:220460|SCTID:715866009 owl:Class MONDO:0019911 biolink:NamedThing maternal uniparental disomy of chromosome 4 Maternal uniparental disomy of chromosome 4 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. tmpaxzxjjyw_mondo_relaxed.owl UPD(4)mat|maternal uniparental disomy of chromosome type 4 Orphanet:96180|SCTID:766238001|ICD10:Q99.8 owl:Class MONDO:0012710 biolink:NamedThing hirschsprung disease, susceptibility to, 9 tmpaxzxjjyw_mondo_relaxed.owl HSCR9|Hirschsprung disease, susceptibility to, 9 OMIM:611644|Orphanet:388 owl:Class CL:0002080 biolink:NamedThing pancreatic centro-acinar cell A cubodial epithelial cell that is continuous with the lining of intercalated ducts that drain the acinus. This cell type secretes a high pH solution to aid in activation of zymogens, and can differentiate into endocrine and exocrine pancreatic cell types. tmpaxzxjjyw_mondo_relaxed.owl centroacinar cell of Langerhans|pancreatic centroacinar cell FMA:62455 tmeehan 2010-06-30T08:49:52Z cell owl:Class MONDO:0024430 biolink:NamedThing allesthesia A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus. tmpaxzxjjyw_mondo_relaxed.owl Dyschirias|Alloesthesias|allochiria|Alloesthesia|dyschiria|Allachesthesia|Allachesthesias|false allochiria|Allesthesias MESH:D066190 owl:Class MONDO:0009618 biolink:NamedThing microcephaly-cardiomyopathy syndrome A syndrome characterised by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl microcephaly with cardiomyopathy|severe microcephaly with mental retardation and dilated cardiomyopathy|severe microcephaly and self-limiting dilated cardiomyopathy|microcephaly-cardiomyopathy|severe microcephaly with intellectual disability and dilated cardiomyopathy|Winship-Viljoen-Leary syndrome GARD:0003609|Orphanet:2515|ICD10:Q87.8|MESH:C536711|OMIM:251220|UMLS:C1855080|SCTID:719380003 owl:Class MONDO:0011486 biolink:NamedThing congenital muscular dystrophy 1B Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation. tmpaxzxjjyw_mondo_relaxed.owl CMD1B|congenital muscular dystrophy type 1B|MDC1B|muscular dystrophy, congenital, 1B OMIM:604801|ICD10:G71.2|UMLS:C1858118|DOID:0110634|SCTID:764944006|Orphanet:98893|MESH:C565748 owl:Class HGNC:25613 biolink:NamedThing CWF19L1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006920 biolink:NamedThing esophagus squamous epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002131 biolink:NamedThing jaw cancer A malignant neoplasm involving the jaw skeleton tmpaxzxjjyw_mondo_relaxed.owl neoplasm of jaw|malignant jaw skeleton neoplasm|jaw neoplasm|malignant neoplasm of jaw skeleton|cancer of jaw skeleton|jaw skeleton cancer EFO:0007333|MESH:D007573|DOID:1862 owl:Class HP:0100496 biolink:NamedThing Abnormality of the vitamin B3 metabolism tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the vitamin B3 metabolism UMLS:C4022040 Vitamin B3 is also known as nicotinic acid, vitamin PP or Niacin and is one of the forty to eighty essential human nutrients. doelkens 2010-12-17T04:13:00Z human_phenotype owl:Class HP:0004340 biolink:NamedThing Abnormality of vitamin B metabolism tmpaxzxjjyw_mondo_relaxed.owl Abnormality of B-vitamin metabolism UMLS:C4021659 peter 2008-03-08T08:08:00Z human_phenotype owl:Class MONDO:0009241 biolink:NamedThing fountain syndrome Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, deafness, skeletal abnormalities, coarse face with full lips|deafness, skeletal dysplasia, lip granuloma|intellectual disability, sensorineural deafness, skeletal abnormalities, and coarse face with full lips|deafness-skeletal dysplasia-lip granuloma syndrome|deafness-skeletal dysplasia-coarse face with full lips syndrome|mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips|fountain syndrome OMIM:229120|ICD10:Q87.8|GARD:0000064|Orphanet:3219|UMLS:C0795944|MESH:C537270|SCTID:720957007 https://rarediseases.info.nih.gov/diseases/64/fountain-syndrome owl:Class MONDO:0005293 biolink:NamedThing flatfoot An anatomic deformity in which the arch of the foot collapses, resulting in the entire sole of the foot coming into complete or near-complete contact with the ground. tmpaxzxjjyw_mondo_relaxed.owl fallen Arch|flat Foot ICD9:734|SCTID:53226007|MESH:D005413|NCIT:C34616|EFO:0003874 owl:Class MONDO:0014965 biolink:NamedThing lethal congenital contracture syndrome 11 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene. tmpaxzxjjyw_mondo_relaxed.owl lethal congenital contracture syndrome type 11|GLDN lethal congenital contracture syndrome|lethal congenital contracture syndrome 11; LCCS11|lethal congenital contracture syndrome 11|lethal congenital contracture arthrogryposis-11|lethal congenital contracture syndrome caused by mutation in GLDN|LCCS11 OMIM:617194|UMLS:C4310670|GARD:0013220 owl:Class HP:0010975 biolink:NamedThing Abnormal B cell count A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. tmpaxzxjjyw_mondo_relaxed.owl Abnormal number of B cells|Abnormal numbers of B cells|Abnormality of B cell numbers|Abnormality of B cell count UMLS:C4021208 peter 2011-02-06T09:38:18Z human_phenotype owl:Class HP:0040088 biolink:NamedThing Abnormal lymphocyte count Any abnormality in the total number of lymphocytes in the blood. tmpaxzxjjyw_mondo_relaxed.owl Abnormal lymphocyte count|Abnormality of lymphocyte number|Abnormal number of lymphocytes|Abnormal lymphocyte counts|Abnormal numbers of lymphocytes SNOMEDCT_US:165534000|UMLS:C0580550 HPO:skoehler human_phenotype owl:Class MONDO:0033565 biolink:NamedThing oocyte maturation defect 9 tmpaxzxjjyw_mondo_relaxed.owl OOMD9|OOCYTE MATURATION DEFECT 9 OMIM:619011 owl:Class MONDO:0054722 biolink:NamedThing geleophysic dysplasia 3 tmpaxzxjjyw_mondo_relaxed.owl GELEOPHYSIC dysplasia 3|GPHYSD3 OMIM:617809|DOID:0111727 owl:Class HGNC:543 biolink:NamedThing ANXA5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013860 biolink:NamedThing idiopathic membranous glomerulonephritis Idiopathic membranous glomerulonephritis (IMG) is a primary glomerular disease characterized by proteinuria, usually in the nephrotic range, with preserved renal function. tmpaxzxjjyw_mondo_relaxed.owl membranous nephropathy - Idiopathic|MGN|membranous GN|Idiopathic membranous glomerulopathy|Extramembranous glomerulonephritis|glomerulonephritis, membranous|idiopathic membranous nephropathy|membranous nephropathy, susceptibility to|MBNP OMIM:614692|GARD:0009180|UMLS:C0086445|NCIT:C123060|SCTID:722119002|Orphanet:97560|ICD10:N04.2 owl:Class MONDO:0008962 biolink:NamedThing Griscelli syndrome type 1 A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2. tmpaxzxjjyw_mondo_relaxed.owl GS1|hypopigmentation-neurologic impairment syndrome|Griscelli-PruniC)ras syndrome type 1|Griscelli syndrome with neurologic impairment|Griscelli syndrome, cutaneous and neurologic type|Griscelli syndrome with neurological impairment|Griscelli-Pruniéras syndrome type 1|Griscelli syndrome, type 1|Griscelli disease type 1|Griscelli syndrome type 1|pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts|Griscelli syndrome, cutaneous and neurological type|partial albinism and primary neurologic disease without hemophagocytic syndrome OMIM:214450|GARD:0002566|DOID:0060832|MESH:C537301|ICD10:E70.3|UMLS:C1859194|Orphanet:381|Orphanet:79476 https://rarediseases.info.nih.gov/diseases/2566/griscelli-syndrome-type-1 owl:Class MONDO:0014126 biolink:NamedThing Perrault syndrome 4 Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene. tmpaxzxjjyw_mondo_relaxed.owl Perrault syndrome caused by mutation in LARS2|PRLTS4|LARS2 Perrault syndrome|Perrault syndrome type 4|Perrault syndrome 4 UMLS:C3809105|Orphanet:2855|OMIM:615300 owl:Class MONDO:0035136 biolink:NamedThing isolated melanotic schwannoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:590539 owl:Class MONDO:0012598 biolink:NamedThing fibromatosis, gingival, 4 tmpaxzxjjyw_mondo_relaxed.owl fibromatosis, gingival, 4|HGF4|hereditary gingival fibromatosis, 4|gingival fibromatosis, 4|GINGF4|fibromatosis, gingival, hereditary, 4|GGF4|fibromatosis gingival, hereditary, 4 MESH:C567028|Orphanet:2024|GARD:0002475|OMIM:611010 owl:Class MONDO:0016070 biolink:NamedThing hereditary gingival fibromatosis Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome. tmpaxzxjjyw_mondo_relaxed.owl hereditary gingival fibromatosis|autosomal dominant gingival fibromatosis|hereditary gingival hyperplasia|autosomal dominant gingival hyperplasia UMLS:C0399440|ICD10:K06.1|DOID:0060466|SCTID:109620006|OMIM:135300|OMIM:609955|Orphanet:2024|OMIMPS:135300|OMIM:611010|OMIM:605544 owl:Class MONDO:0006706 biolink:NamedThing Bifidobacteriales infectious disease Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae. tmpaxzxjjyw_mondo_relaxed.owl infection, Bifidobacteriales|Bifidobacteriales caused disease or disorder|Bifidobacteriales infection|infections, Bifidobacteriales|Bifidobacteriales disease or disorder EFO:1000873|UMLS:C1136339|MESH:D039941 owl:Class HGNC:2481 biolink:NamedThing CSTA tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33318 biolink:NamedThing main group element atom An atom belonging to one of the main groups (found in the s- and p- blocks) of the periodic table. tmpaxzxjjyw_mondo_relaxed.owl Hauptgruppenelement|main group element|main group elements|Hauptgruppenelemente owl:Class HGNC:29418 biolink:NamedThing FNIP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7883 biolink:NamedThing NOTCH3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0080134 biolink:NamedThing regulation of response to stress Any process that modulates the frequency, rate or extent of a response to stress. Response to stress is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002647 biolink:NamedThing laryngitis An acute or chronic, bacterial or viral inflammatory process affecting the larynx. Signs and symptoms include sore throat, cough, swallowing difficulties, and hoarseness. tmpaxzxjjyw_mondo_relaxed.owl inflammation of larynx|larynx inflammation|laryngeal inflammation|laryngeal Inflammation MESH:D007827|SCTID:45913009|UMLS:C0023067|ICD9:464.00|NCIT:C26811|DOID:3437 owl:Class MONDO:0030898 biolink:NamedThing immunodeficiency 76 tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 76|IMD76 OMIM:619164 owl:Class MONDO:0005768 biolink:NamedThing gastrointestinal tuberculosis Tuberculosis that involves any region of the gastrointestinal tract, mostly in the distal ileum and the cecum. In most cases, mycobacterium tuberculosis is the pathogen. Clinical features include abdominal pain; fever; and palpable mass in the ileocecal area. tmpaxzxjjyw_mondo_relaxed.owl tuberculosis of intestines, peritoneum and mesenteric glands|tuberculosis of gastrointestinal tract|tuberculosis of intestines, peritoneum, and mesenteric glands MESH:D014385|UMLS:C0041312|ICD9:014.81|UMLS:C0152717|SCTID:186225008|DOID:404|EFO:0007280|ICD9:014.86|ICD9:014.80 owl:Class MONDO:0017346 biolink:NamedThing Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly is a rare form of diffuse large B-cell lymphoma occurring most commonly in patients over the age of 50 (usually between 70-75 years of age), without overt immunodeficiency, and presenting with nodal and extranodal involvement (in sites such as the stomach, lung, skin and pancreas) and B symptoms (fever, night sweats, weight loss). The tumor is characterized by an aggressive course and a short survival rate. tmpaxzxjjyw_mondo_relaxed.owl EBV-positive DLBCL of the elderly|Senile EBV-associated B-cell lymphoproliferative disorder|EBV-Positive diffuse large B-cell lymphoma, NOS|EBV Positive diffuse large B-cell lymphoma of the elderly|Epstein-Barr Virus Positive diffuse large B-cell lymphoma of the elderly|age-related EBV Positive B-cell lymphoproliferative disorder NCIT:C80281|UMLS:C2700007|Orphanet:289661|ICDO:9680/3|SCTID:716788007|ICD10:C83.3 owl:Class MONDO:0008578 biolink:NamedThing toe, rotated fifth tmpaxzxjjyw_mondo_relaxed.owl toe, rotated fifth OMIM:189150 owl:Class MONDO:0000592 biolink:NamedThing specific developmental disorder A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. tmpaxzxjjyw_mondo_relaxed.owl specific developmental disorder|specific delays in development ICD9:315.8|SCTID:10720004|DOID:0060038 owl:Class UBERON:0037455 biolink:NamedThing wall of female urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036521 biolink:NamedThing wall of urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002544 biolink:NamedThing digit tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034768 biolink:NamedThing morphological feature tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015449 biolink:NamedThing criss-cross heart Criss cross heart (CCH) is a cardiac malformation where the inflow streams of the two ventricles cross due to twisting of the heart about its major axis. The clinical features depend on the particular cardiac defects associated, like simple or corrected transposition of the great arteries and ventricular septal defects. tmpaxzxjjyw_mondo_relaxed.owl criss-cross atrioventricular relationships|superoinferior ventricles|twisted atrioventricular connections MESH:D003420|ICD10:Q24.8|ICD9:746.89|SCTID:253269002|Orphanet:1461 owl:Class MONDO:0018443 biolink:NamedThing FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226185|ICD10:Q87.8|Orphanet:404451 owl:Class MONDO:0010175 biolink:NamedThing van Bogaert-Hozay syndrome tmpaxzxjjyw_mondo_relaxed.owl van Bogaert-Hozay syndrome|Hozay's syndrome|A familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects|Hozay’s syndrome|A familial form of acro-osteolysis associated with a mild intellectual disability, skin atrophy, facial dysmorphism, and ocular defects|acro-osteolysis-facial dysplasia syndrome MESH:C536526|GARD:0008415|UMLS:C1848598|OMIM:277150 https://rarediseases.info.nih.gov/diseases/8415/van-bogaert-hozay-syndrome owl:Class HGNC:10547 biolink:NamedThing SC5D tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007965 biolink:NamedThing melanoma, malignant familial intraocular tmpaxzxjjyw_mondo_relaxed.owl melanoma, malignant familial intraocular OMIM:155700|Orphanet:618|MESH:C563596|UMLS:C1835043 owl:Class MONDO:0018362 biolink:NamedThing persistent idiopathic facial pain tmpaxzxjjyw_mondo_relaxed.owl AFP|atypical facial pain|PIFP ICD10:G50.1|Orphanet:398147 Editor note: TODO add HPO class owl:Class CHEBI:57652 biolink:NamedThing chondroitin D-glucuronate anion Anionic form of chondroitin D-glucuronate arising from deprotonation of the carboxylic acid groups of the repeating units; major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl chondroitin D-glucuronate polyanion|chondroitin D-glucuronate owl:Class HGNC:7108 biolink:NamedThing MKKS tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003468 biolink:NamedThing ureteric segment of renal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000307 biolink:NamedThing blastula tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008704 biolink:NamedThing short-limb skeletal dysplasia with severe combined immunodeficiency Short-limb skeletal dysplasia with severe combined immunodeficiency is an extremely rare type of SCID characterized by the classical signs of T-B- SCID (severe and recurrent infections, diarrhea, failure to thrive, absence of T and B lymphocytes), associated with skeletal anomalies like short stature, bowing of the long bones and metaphyseal abnormalities of variable degree of severity. tmpaxzxjjyw_mondo_relaxed.owl achondroplasia-SCID syndrome|achondroplasia so-called and severe combined immunodeficiency|short-limb skeletal dysplasia with severe combined immunodeficiency|achondroplasia and Swiss type agammaglobulinemia|achondroplasia and severe combined immunodeficiency|agammaglobulinemia and achondroplasia|achondroplasia-severe combined immunodeficiency syndrome|SLSD with SCID|Slsd with SCID|achondroplasia and Swiss-type agammaglobulinemia|short limb skeletal dysplasia with SCID|achondroplasia, so-called, and severe combined immunodeficiency|immunodeficiency-short limb dwarfism syndrome|achondroplasia-Swiss type agammaglobulinemia syndrome GARD:0002988|OMIM:200900|Orphanet:935|ICD10:D82.2|GARD:0000463|UMLS:C1860168|MESH:C565984 https://rarediseases.info.nih.gov/diseases/2988/achondroplasia-and-severe-combined-immunodeficiency owl:Class HGNC:8547 biolink:NamedThing P4HA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00000176 biolink:NamedThing elevation A landform elevated above the surrounding area. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000309 biolink:NamedThing aniseikonia A condition in which the ocular image of an object as seen by one eye differs in size and shape from that seen by the other. tmpaxzxjjyw_mondo_relaxed.owl EFO:1001266|ICD10:H52.32|DOID:0050304|SCTID:16059006|ICD9:367.32|MESH:D000839 owl:Class MONDO:0004892 biolink:NamedThing refractive error A defect in the focusing of light on the retina as in astigmatism, myopia, or hyperopia. tmpaxzxjjyw_mondo_relaxed.owl SCTID:39021009|NCIT:C87145|MESH:D012030|ICD10:H52.7|DOID:9835 owl:Class GO:0022412 biolink:NamedThing cellular process involved in reproduction in multicellular organism A process, occurring at the cellular level, that is involved in the reproductive function of a multicellular organism. tmpaxzxjjyw_mondo_relaxed.owl reproductive cellular process in multicellular organism owl:Class HGNC:6414 biolink:NamedThing KRT12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016077 biolink:NamedThing congenital aortopulmonary window tmpaxzxjjyw_mondo_relaxed.owl congenital aortopulmonary septal defect|aorto-pulmonary artery fistula|aorta-pulmonary artery fistula|congenital aortopulmonary artery fistula|aortopulmonary fistula ICD10:Q21.4|Orphanet:2037|UMLS:C2931610|GARD:0000738|MESH:C537782 owl:Class MONDO:0011730 biolink:NamedThing fumaric aciduria Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment. tmpaxzxjjyw_mondo_relaxed.owl fumarate hydratase deficiency|fumaric aciduria|fumarase deficiency|FMRD Orphanet:24|GARD:0006476|OMIM:606812|SCTID:237983002|DOID:0111261|MESH:C538191|ICD10:E88.8|ICD9:282.3|UMLS:C2936826 owl:Class CL:0002188 biolink:NamedThing glomerular endothelial cell An endothelial cell found in the glomerulus of the kidney. This cell is flattened, highly fenestrated, and plays a vital role in the formation of glomerular ultrafiltrate. tmpaxzxjjyw_mondo_relaxed.owl BTO:0004632|FMA:70970 tmeehan 2010-08-26T10:59:44Z cell owl:Class MONDO:0013200 biolink:NamedThing hypertrophic cardiomyopathy 15 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the VCL gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, type 15|CMH15|hypertrophic cardiomyopathy type 15|hypertrophic cardiomyopathy caused by mutation in VCL|cardiomyopathy, familial hypertrophic, 15|cardiomyopathy familial hypertrophic 15|VCL hypertrophic cardiomyopathy UMLS:C2750459|DOID:0110321|OMIM:613255|MESH:C567681 owl:Class MONDO:0013471 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 61 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5|DFNB61|autosomal recessive deafness 61|autosomal recessive nonsyndromic deafness type 61|autosomal recessive nonsyndromic deafness 61|deafness, autosomal recessive type 61|deafness, autosomal recessive 61|SLC26A5 autosomal recessive nonsyndromic deafness DOID:0110513|ICD10:H90.3|OMIM:613865|UMLS:C3151230 owl:Class UBERON:0011975 biolink:NamedThing epiphysis of middle phalanx of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009867 biolink:NamedThing lethal congenital glycogen storage disease of heart Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene. tmpaxzxjjyw_mondo_relaxed.owl glycogen storage disease caused by mutation in PRKAG2|fatal congenital nonlysosomal cardiac glycogenosis|fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to GSD|glycogen storage disease of heart|fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease|phosphorylase kinase deficiency of heart|glycogen storage disease of heart, lethal congenital|PRKAG2 glycogen storage disease MESH:C564888|ICD10:E74.0+|DOID:0090101|GARD:0010728|OMIM:261740|Orphanet:439854|UMLS:C1849813|ICD10:G73.6* owl:Class MONDO:0013138 biolink:NamedThing vertigo, benign recurrent, 2 tmpaxzxjjyw_mondo_relaxed.owl vertigo, benign recurrent, 2|BRV2 OMIM:613106|MESH:C567749|UMLS:C2751289 owl:Class MONDO:0019746 biolink:NamedThing cystinuria type B tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857389|ICD10:E72.0|OMIM:220100|Orphanet:93613 owl:Class GO:0009201 biolink:NamedThing ribonucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl ribonucleoside triphosphate anabolism|ribonucleoside triphosphate formation|ribonucleoside triphosphate synthesis|ribonucleoside triphosphate biosynthesis owl:Class MONDO:0008811 biolink:NamedThing XK aprosencephaly XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance. tmpaxzxjjyw_mondo_relaxed.owl atelencephaly|Garcia-Lurie syndrome|XK-aprosencephaly syndrome|aprosencephaly-atelencephaly syndrome|Xk syndrome|XK aprosencephaly syndrome|aprosencephaly syndrome|XK-aprosencephaly Orphanet:3469|UMLS:C0795952|ICD10:Q04.3|SCTID:277921008|GARD:0000424|MESH:C536767|OMIM:207770 https://rarediseases.info.nih.gov/diseases/424/xk-aprosencephaly owl:Class HGNC:7095 biolink:NamedThing MID1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0140243 biolink:NamedThing regulation of translation at synapse Any process that regulates translation occurring at the synapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9965 biolink:NamedThing RERE tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035846 biolink:NamedThing fibrous enthesis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016170 biolink:NamedThing chronic polyradiculoneuropathy Chronic form of polyradiculoneuropathy. tmpaxzxjjyw_mondo_relaxed.owl polyradiculoneuropathy, chronic Orphanet:208978|ICD10:G61.8 owl:Class MONDO:0003525 biolink:NamedThing pancreatic gastrin-producing neuroendocrine tumor A usually malignant gastrin-producing neuroendocrine tumor arising from the pancreas. It may or may not be associated with inappropriate secretion of gastrin and an associated clinical syndrome. tmpaxzxjjyw_mondo_relaxed.owl gastrin-producing neuroendocrine tumor of pancreas|pancreatic gastrin-producing neuroendocrine tumor|islet cell tumor, ulcerogenic|pancreatic G-cell tumor|pancreas gastrin-producing neuroendocrine tumor|pancreatic gastrin producing tumor|pancreatic gastrin producing NET MESH:D015408|DOID:5580|NCIT:C95596|UMLS:C1368066|NCIT:C9069 Editor note: determine difference between NCIT:C95596 and NCIT:C9069 owl:Class MONDO:0019654 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206527|ICD10:N04.8|Orphanet:93217 owl:Class MONDO:0013133 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl susceptibility to cutaneous malignant melanoma 5|melanoma, cutaneous malignant, susceptibility to, type 5|melanoma, cutaneous malignant, susceptibility to, 5|CMM5 Orphanet:618|OMIM:613099 owl:Class MONDO:0000649 biolink:NamedThing sensory system cancer A malignant neoplasm involving the sensory system tmpaxzxjjyw_mondo_relaxed.owl sensory system cancer|malignant neoplasm of sensory system|malignant sensory system neoplasm|cancer of sensory system DOID:0060116 owl:Class OBO:MF_0000032 biolink:NamedThing bodily disposition A bodily disposition is a disposition that inheres in some extended organism. Examples are: my disposition to catch a cold when exposed to a virus, my ability to speak the English language. tmpaxzxjjyw_mondo_relaxed.owl owl:Class BFO:0000016 biolink:NamedThing disposition tmpaxzxjjyw_mondo_relaxed.owl Disposition disposition BFO 2 Reference: Dispositions exist along a strength continuum. Weaker forms of disposition are realized in only a fraction of triggering cases. These forms occur in a significant number of cases of a similar type. b is a disposition means: b is a realizable entity & b’s bearer is some material entity & b is such that if it ceases to exist, then its bearer is physically changed, & b’s realization occurs when and because this bearer is in some special physical circumstances, & this realization occurs in virtue of the bearer’s physical make-up. (axiom label in BFO2 Reference: [062-002]) children are innately disposed to categorize objects in certain ways.|certain people have a predisposition to colon cancer|an atom of element X has the disposition to decay to an atom of element Y|the cell wall is disposed to filter chemicals in endocytosis and exocytosis (forall (x t) (if (and (RealizableEntity x) (existsAt x t)) (exists (y) (and (MaterialEntity y) (specificallyDepends x y t))))) // axiom label in BFO2 CLIF: [063-002] |(forall (x) (if (Disposition x) (and (RealizableEntity x) (exists (y) (and (MaterialEntity y) (bearerOfAt x y t)))))) // axiom label in BFO2 CLIF: [062-002] If b is a realizable entity then for all t at which b exists, b s-depends_on some material entity at t. (axiom label in BFO2 Reference: [063-002]) owl:Class MONDO:0004501 biolink:NamedThing fallopian tube cystadenofibroma A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The tumors are round and solitary and contain connective tissue and cystic structures lined by serous-type epithelium. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. tmpaxzxjjyw_mondo_relaxed.owl cystadenofibroma of fallopian tube|fallopian tube cystadenofibroma|fallopian tube serous cystadenofibroma UMLS:C1517111|NCIT:C40114|DOID:8211 owl:Class MONDO:0003461 biolink:NamedThing fallopian tube serous adenofibroma A rare, benign, asymptomatic neoplasm that arises from the fallopian tube. The majority of cases are incidental findings during operation for an unrelated gynecologic disorder. The tumors are round and solitary and contain connective tissue and papillary or tubular structures lined by serous-type epithelium. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube adenofibroma|serous adenofibroma of fallopian tube|fallopian tube serous adenofibroma DOID:5478|NCIT:C40113|UMLS:C1517109 owl:Class MONDO:0022022 biolink:NamedThing bowenoid papulosis Dysplastic papular lesions presenting on the genitalia of either sex. The lesions are associated with human papillomavirus infection. The majority of cases have a benign clinical course, although, a small number of cases with malignant transformation have been reported. tmpaxzxjjyw_mondo_relaxed.owl Bowenoid papulosis|bowenoid papulosis|BP UMLS:C0334106|ICD9:447.8|NCIT:C8374|GARD:0005951|SCTID:402913004 https://rarediseases.info.nih.gov/diseases/5951/bowenoid-papulosis owl:Class HGNC:26944 biolink:NamedThing TMEM138 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8885 biolink:NamedThing PGA3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9642 biolink:NamedThing PTPN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003836 biolink:NamedThing abdominal segment skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2211 biolink:NamedThing COL6A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019705 biolink:NamedThing primary bone dysplasia with defective bone mineralization tmpaxzxjjyw_mondo_relaxed.owl primary skeletal dysplasia with defective bone mineralization|primary osteodysplasia with defective bone mineralization 2022-01-01 Orphanet:93447 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class HGNC:13221 biolink:NamedThing BCL11A tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6139 biolink:NamedThing ITGA3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003471 biolink:NamedThing artery of lower lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007633 biolink:NamedThing Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness tmpaxzxjjyw_mondo_relaxed.owl Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness MESH:C564999|OMIM:136600|UMLS:C1850982 owl:Class MONDO:0004448 biolink:NamedThing frontal sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the frontal sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. tmpaxzxjjyw_mondo_relaxed.owl inverted papilloma of frontal sinus|inverted papilloma of the frontal sinus|frontal sinus inverted papilloma DOID:8060|UMLS:C1333644|NCIT:C6842 owl:Class HP:0002104 biolink:NamedThing Apnea Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. tmpaxzxjjyw_mondo_relaxed.owl Apneic episodes|Apnoea|Absence of spontaneous respiration SNOMEDCT_US:1023001|SNOMEDCT_US:248583008|MSH:D001049|UMLS:C0003578 HP:0005936|HP:0005958 human_phenotype owl:Class HP:0002793 biolink:NamedThing Abnormal pattern of respiration An anomaly of the rhythm or depth of breathing. tmpaxzxjjyw_mondo_relaxed.owl Abnormal pattern of respiration|Abnormal respiratory patterns|Unusual breathing patterns UMLS:C1837388 human_phenotype owl:Class MONDO:0005900 biolink:NamedThing parotitis Inflammation of the parotid glands. tmpaxzxjjyw_mondo_relaxed.owl inflammation of parotid gland|parotid gland inflammation MESH:D010309|UMLS:C0030583|EFO:0007423|SCTID:14756005|ICD10:K11.2|DOID:10301|NCIT:C114281 owl:Class UBERON:0005003 biolink:NamedThing mucosa of left hepatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011503 biolink:NamedThing cortisone reductase deficiency 1 Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency. tmpaxzxjjyw_mondo_relaxed.owl cortisone reductase deficiency type 1|H6PD cortisone reductase deficiency|cortisone reductase deficiency caused by mutation in H6PD|hexose-6-phosphate dehydrogenase deficiency|cortisone reductase deficiency 1|CORTRD1|apparent cortisone reductase deficiency NCIT:C131849|OMIM:604931|DOID:0090141|Orphanet:168588|UMLS:C3551716 owl:Class GO:0016616 biolink:NamedThing oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP. tmpaxzxjjyw_mondo_relaxed.owl NADH-dependent glyoxylate reductase|glyoxylic acid reductase|glycolate reductase owl:Class GO:0051968 biolink:NamedThing positive regulation of synaptic transmission, glutamatergic Any process that activates, maintains or increases the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of synaptic transmission, glutamatergic|activation of synaptic transmission, glutamatergic|upregulation of synaptic transmission, glutamatergic|up regulation of synaptic transmission, glutamatergic|stimulation of synaptic transmission, glutamatergic owl:Class MONDO:0009401 biolink:NamedThing hyperprolinemia type 2 Hyperprolinemia type 2 is an autosomal recessive proline metabolism disorder due to pyroline-5-carboxylate dehydrogenase deficiency. The condition is often benign but clinical signs may include seizures, intellectual deficit and mild developmental delay. tmpaxzxjjyw_mondo_relaxed.owl HYRPRO2|hyperprolinemia caused by mutation in ALDH4A1|hyperprolinemia, type 2|hyperprolinemia, type II|HPII|1 alpha pyrroline-5-carboxylate dehydrogenase deficiency|hyperprolinemia type 2|1-pyrroline-5-carboxylate dehydrogenase deficiency|ALDH4A1 hyperprolinemia|delta1-pyrroline-5-carboxylate dehydrogenase deficiency|type 2 hyperprolinemia MESH:C538385|ICD10:E72.5|DOID:0080543|UMLS:C2931835|Orphanet:79101|SCTID:717181004|OMIM:239510|MedDRA:10058514|MedDRA:10058512|GARD:0006710 https://rarediseases.info.nih.gov/diseases/6710/hyperprolinemia-type-2 owl:Class MONDO:0014453 biolink:NamedThing immunodeficiency 36 tmpaxzxjjyw_mondo_relaxed.owl IMD36|immunodeficiency type 36|immunodeficiency 36 UMLS:C4014934|Orphanet:397596|OMIM:616005 owl:Class MONDO:0018338 biolink:NamedThing activated PI3K-delta syndrome tmpaxzxjjyw_mondo_relaxed.owl senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation|APDS OMIM:615513|ICD10:D81.8|GARD:0011983|SCTID:711480000|Orphanet:397596|UMLS:C3714976|OMIM:616005|ICD9:279.8 owl:Class CL:0001032 biolink:NamedThing cortical granule cell Granule cell that is part of the cerebral cortex. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class HGNC:9721 biolink:NamedThing PYCR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7907 biolink:NamedThing NPHP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006474 biolink:NamedThing transitional cell carcinoma A malignant neoplasm arising from the transitional epithelium, usually affecting the urinary bladder, ureter, or renal pelvis. It may or may not have a papillary configuration. It is graded 1 to 3 or 4 according to the degree of cellular differentiation and architectural patterns. Grade 1 transitional cell carcinoma is histologically benign but it may recur. Transitional cell carcinomas may also affect the upper respiratory tract and the ovaries. tmpaxzxjjyw_mondo_relaxed.owl transitional carcinoma|transitional epithelial cell carcinoma|transitional cell neoplasm|carcinoma of urothelial cell|carcinoma of transitional epithelial cell|urothelial cell carcinoma|transitional cell tumor|transitional cell carcinoma|carcinoma, urothelial, malignant EFO:1000601|GARD:0007794|UMLS:C0007138|DOID:2671|ICDO:8120/3|NCIT:C2930|MESH:D002295 https://rarediseases.info.nih.gov/diseases/7794/transitional-cell-carcinoma owl:Class BFO:0000029 biolink:NamedThing site tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005338 biolink:NamedThing outflow tract aortic component tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14244 biolink:NamedThing RAB18 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001973 biolink:NamedThing Brucella abortus brucellosis A bacterial infection caused by Brucella abortus that spreads from cattle to humans. Brucella abortus can cause of range of signs and symptoms including fever, chills, sweats, weight loss, malaise, headaches, myalgia, and arthralgia. tmpaxzxjjyw_mondo_relaxed.owl ICD10:A23.1|SCTID:427795000|ICD9:023.1|MESH:D002007|DOID:14457 owl:Class MONDO:0005683 biolink:NamedThing brucellosis Brucellosis is a bacterial infection that spreads from animals to people via unpasteurized dairy products or by exposure to contaminated animal products or infected animals. Animals that are most commonly infected include sheep, cattle, goats, pigs, and dogs. Brucellosis can cause of range of signs and symptoms, some of which may persist or recur. Initial symptoms may include fever, sweats, malaise, anorexia, headache, fatigue, and/or pain in the muscles, joints, and/or back. Symptoms that may persist or recur include fevers, arthritis, swelling of the testicle and scrotum, swelling of the heart (endocarditis), neurologic symptoms (in up to 5% of cases), chronic fatigue, depression, and/or swelling of the liver or spleen. People who are in jobs or settings that increase exposure to the bacteria are at increased risk for infection. Antibiotics are used to treat brucellosis. Recovery may take a few weeks to several months, and relapses are common. Death from brucellosis is rare, occurring in no more than 2% of cases. tmpaxzxjjyw_mondo_relaxed.owl Maltese fever|Rock fever|Mediterranean fever|Gibraltar fever|bang's disease|Malta fever|Cyprus fever|undulant fever NCIT:C84602|ICD10:A23|MedDRA:10006500|ICD10:A23.1|Orphanet:1304|GARD:0005966|UMLS:C0006309|MESH:D002006|SCTID:75702008|DOID:11077|ICD10:A23.8|ICD10:A23.9|ICD10:A23.3|ICD10:A23.0|ICD9:023.9|ICD10:A23.2|EFO:0007185|ICD9:023 https://rarediseases.info.nih.gov/diseases/5966/brucellosis owl:Class MONDO:0015093 biolink:NamedThing sub-cortical nodular heterotopia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:101029|ICD10:Q04.8 owl:Class MONDO:0007070 biolink:NamedThing adiposis dolorosa Adiposis dolorosa or Dercum's disease is characterised by the development of multiple, painful, subcutaneous lipomas in association with obesity, asthenia and fatigue, and range of mental disturbances including instability, depression, confusion, dementia and epilepsy. tmpaxzxjjyw_mondo_relaxed.owl adiposis dolorosa|Neurolipomatosis|lipomatosis dolorosa|adipose tissue rheumatism|Adiposalgia|Dercum's disease|Dercum disease SCTID:71404003|EFO:1000667|UMLS:C0001529|ICD10:E88.2|GARD:0005750|Wikipedia:Adiposis_dolorosa|MESH:D000274|ICD9:272.8|NCIT:C84540|Orphanet:36397|MedDRA:10001294|OMIM:103200|DOID:3928 https://rarediseases.info.nih.gov/diseases/5750/adiposis-dolorosa owl:Class MONDO:0014817 biolink:NamedThing nephrotic syndrome, type 12 Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene. tmpaxzxjjyw_mondo_relaxed.owl NPHS12|familial nephrotic syndrome caused by mutation in NUP93|nephrotic syndrome, type 12; NPHS12|nephrotic syndrome, type 12|NUP93 familial nephrotic syndrome UMLS:C4225166|DOID:0080387|OMIM:616892 owl:Class MONDO:0035009 biolink:NamedThing isolated mesenteric vein thrombosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:583861 owl:Class UBERON:0005203 biolink:NamedThing trachea gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017658 biolink:NamedThing hyperekplexia A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:306773|ICD10:G25.8 owl:Class FOODON:03411222 biolink:NamedThing fish Fish are the gill-bearing aquatic craniate animals that lack limbs with digits. Most fish are ectothermic ("cold-blooded"), allowing their body temperatures to vary as ambient temperatures change, though some of the large active swimmers like white shark and tuna can hold a higher core temperature. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018809 biolink:NamedThing idiopathic peliosis hepatis tmpaxzxjjyw_mondo_relaxed.owl idiopathic peliosis hepatitis Orphanet:480524 owl:Class UBERON:0006136 biolink:NamedThing unmyelinated nerve fiber tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019108 biolink:NamedThing silent sinus syndrome Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls. tmpaxzxjjyw_mondo_relaxed.owl Imploding antrum syndrome ICD9:478.19|SCTID:699802009|Orphanet:71276|UMLS:C3698095 owl:Class HGNC:1848 biolink:NamedThing CEL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001413 biolink:NamedThing ulceroglandular tularemia A tularemia that results in painful regional lymphadenopathy and an ulcerated skin lesion. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152941|SCTID:37722001|ICD9:021.0|ICD10:A21.0|DOID:11990 owl:Class MONDO:0015081 biolink:NamedThing neuroendocrine tumor with other location tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:100101|UMLS:CN197376 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. MONDO:0019496 https://github.com/monarch-initiative/mondo/issues/3886 owl:Class MONDO:0006049 biolink:NamedThing papillary lung adenocarcinoma A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures. tmpaxzxjjyw_mondo_relaxed.owl papillary adenocarcinoma of lung|papillary adenocarcinoma of the lung|lung papillary-adenocarcinoma|lung papillary adenocarcinoma|papillary lung adenocarcinoma UMLS:C1335325|NCIT:C5650|ICD9:162.9|SCTID:707411007|EFO:1000046|DOID:5588 owl:Class MONDO:0000495 biolink:NamedThing oppositional defiant disorder A behavior disorder characterized by a persistent pattern of defiant, disobedient, and hostile behavior towards authority figures, manifested by a frequent loss of temper, arguing, becoming angry or vindictive, or other negativistic behaviors. tmpaxzxjjyw_mondo_relaxed.owl oppositional defiant disorder|oppositional defiant disorder (disease) oppositional defiant disorder (disease) SCTID:18941000|NCIT:C92565|MESH:D019958|ICD9:313.81|HP:0010865|DOID:0050856 owl:Class GO:1903780 biolink:NamedThing negative regulation of cardiac conduction Any process that stops, prevents or reduces the frequency, rate or extent of cardiac conduction. tmpaxzxjjyw_mondo_relaxed.owl inhibition of cardiac conduction|down regulation of cardiac conduction|down-regulation of cardiac conduction|downregulation of cardiac conduction owl:Class MONDO:0013363 biolink:NamedThing chromosome 2q31.1 duplication syndrome tmpaxzxjjyw_mondo_relaxed.owl chromosome 2q31.1 duplication syndrome|mesomelic dysplasia, 2Q31.1 Duplication-related UMLS:C3150940|DOID:0060458|OMIM:613681|Orphanet:1836 owl:Class MONDO:0007977 biolink:NamedThing mesomelic dysplasia, Kantaputra type Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature. tmpaxzxjjyw_mondo_relaxed.owl Kantaputra mesomelic dysplasia|MDK|mesomelic dysplasia Kantaputra type|mesomelic dysplasia with ankle carpal and tarsal synostosis|mesomelic dysplasia, Kantaputra type|mesomelic dysplasia Thai type|mesomelic dysplasia with ankle, carpal, and tarsal synostosis|mesomelic dysplasia, Thai type|Mdk|MMDK MESH:C535547|ICD10:Q78.8|SCTID:719397009|OMIM:156232|GARD:0003074|OMIM:613681|Orphanet:1836 https://rarediseases.info.nih.gov/diseases/3074/mesomelic-dysplasia-kantaputra-type owl:Class HGNC:31948 biolink:NamedThing CEACAM16 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018688 biolink:NamedThing anti-p200 pemphigoid tmpaxzxjjyw_mondo_relaxed.owl EFO:0008597|UMLS:CN237754|Orphanet:454710|ICD10:L12.8 owl:Class HGNC:3023 biolink:NamedThing DRD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006104 biolink:NamedThing benign carotid body paraganglioma A carotid body paraganglioma that is confined to the site of origin, without metastatic potential. tmpaxzxjjyw_mondo_relaxed.owl benign chemodectoma|chemodectoma, benign|benign carotid body paraganglioma|carotid body paraganglioma, benign NCIT:C79950|UMLS:C2698359|EFO:1000108 owl:Class MONDO:0016905 biolink:NamedThing partial deletion of the long arm of chromosome 6 Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 6q|partial monosomy 6q|partial deletion of the long arm of chromosome type 6|6q monosomy|partial monosomy of the long arm of chromosome 6|monosomy 6q|6q deletion|chromosome 6q deletion|partial deletion of chromosome 6q|deletion 6q ICD10:Q93.5|GARD:0003760|MESH:C537807|UMLS:C0795816|Orphanet:262047 owl:Class MONDO:0006978 biolink:NamedThing splenic infarction Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed) tmpaxzxjjyw_mondo_relaxed.owl splenic infarct|splenic infarcts|splenic infarction|infarct of the spleen SCTID:22996003|MESH:D013159|ICD10:D73.5|GARD:0009973|DOID:2533|ICD9:289.59|UMLS:C0037998|EFO:1001190|MedDRA:10041648 owl:Class CHEBI:24651 biolink:NamedThing hydroxides Hydroxides are chemical compounds containing a hydroxy group or salts containing hydroxide (OH(-)). tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000130 biolink:NamedThing Abnormality of the uterus An abnormality of the uterus. tmpaxzxjjyw_mondo_relaxed.owl Uterine abnormalities|Abnormality of the uterus|Uterine malformations MSH:C562565|UMLS:C0266383|SNOMEDCT_US:37849005 HP:0008692|HP:0008630 human_phenotype owl:Class GO:0002285 biolink:NamedThing lymphocyte activation involved in immune response A change in morphology and behavior of a lymphocyte resulting from exposure to a specific antigen, mitogen, cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpaxzxjjyw_mondo_relaxed.owl lymphocyte activation during immune response owl:Class MONDO:0014586 biolink:NamedThing congenital myasthenic syndrome 4B A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. tmpaxzxjjyw_mondo_relaxed.owl myasthenic syndrome, congenital, 4B, FAST-channel|CMS4B|congenital myasthenic syndrome type 4B|congenital myasthenic syndrome 4B fast-channel Orphanet:590|OMIM:616324|UMLS:C4225369|DOID:0110677 owl:Class HGNC:13533 biolink:NamedThing ATP8A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043731 biolink:NamedThing lytic metastatic bone lesion Dissolution of bone that particularly involves the removal or loss of calcium. tmpaxzxjjyw_mondo_relaxed.owl osteolysis|lytic metastatic bone lesion|Osteolyses|osteolytic lesion EFO:1001821|MESH:D010014|SCTID:203522001|NCIT:C35371 Editor note: finding in NCIT owl:Class MONDO:0012744 biolink:NamedThing dilated cardiomyopathy 1Y Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TPM1 gene. tmpaxzxjjyw_mondo_relaxed.owl familial isolated dilated cardiomyopathy caused by mutation in TPM1|left ventricular noncompaction 9|cardiomyopathy, dilated, 1Y|dilated cardiomyopathy type 1Y|cardiomyopathy, dilated, type 1Y|TPM1 familial isolated dilated cardiomyopathy|CMD1Y ICD10:I42.0|MESH:C567507|DOID:0110457|OMIM:611878|Orphanet:54260 owl:Class CL:0000555 biolink:NamedThing neuronal brush cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class NCBITaxon:34625 biolink:NamedThing Hyalomma tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:426438 biolink:NamedThing Hyalomminae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:1903054 biolink:NamedThing negative regulation of extracellular matrix organization Any process that stops, prevents or reduces the frequency, rate or extent of extracellular matrix organization. tmpaxzxjjyw_mondo_relaxed.owl downregulation of extracellular matrix organization and biogenesis|negative regulation of extracellular matrix organisation|negative regulation of extracellular matrix organization and biogenesis|inhibition of extracellular matrix organization and biogenesis|down-regulation of extracellular matrix organization and biogenesis|down-regulation of extracellular matrix organisation|down-regulation of extracellular matrix organization|inhibition of extracellular matrix organisation|downregulation of extracellular matrix organisation|inhibition of extracellular matrix organization|down regulation of extracellular matrix organisation|down regulation of extracellular matrix organization and biogenesis|down regulation of extracellular matrix organization|downregulation of extracellular matrix organization owl:Class GO:0071827 biolink:NamedThing plasma lipoprotein particle organization A protein-lipid complex subunit organization process that results in the formation, disassembly, or alteration of a plasma lipoprotein particle. A plasma lipoprotein particle is a spherical particle with a hydrophobic core of triglycerides and/or cholesterol esters, surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins. tmpaxzxjjyw_mondo_relaxed.owl plasma lipoprotein particle organisation owl:Class MONDO:0003446 biolink:NamedThing papillary hidradenoma A benign neoplasm arising from the sweat glands. It presents as a slow growing cystic nodular lesion most often in the skin of the vulva and the perianal region. It is characterized by the presence of cystic and large papillary structures. The papillary structures contain connective tissue and are covered by two layers of epithelium. Complete excision is curative. tmpaxzxjjyw_mondo_relaxed.owl hidradenoma papilliferum SCTID:307597000|NCIT:C4171|ICDO:8405/0|UMLS:C0334348|DOID:5439 owl:Class MONDO:0017701 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form tmpaxzxjjyw_mondo_relaxed.owl GSDIV, adult neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form|GSD due to glycogen branching enzyme deficiency, adult neuromuscular form|glycogenosis type 4, adult neuromuscular form|glycogen storage disease type IV, adult neuromuscular form|GSD type 4, adult neuromuscular form|glycogenosis type IV, adult neuromuscular form|glycogen storage disease type 4, adult neuromuscular form|GBE deficiency, adult neuromuscular form UMLS:CN203601|OMIM:232500|ICD10:E74.0|Orphanet:308712 owl:Class MONDO:0021471 biolink:NamedThing benign neoplasm of endometrium A benign neoplasm that involves the endometrium. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the endometrium|benign endometrium tumor|benign endometrium neoplasm|benign tumor of endometrium|benign endometrial tumor|endometrium benign neoplasm|benign endometrial neoplasm|benign tumor of the endometrium NCIT:C4894|UMLS:C0686239|SCTID:92086004 owl:Class HGNC:11073 biolink:NamedThing SLC9A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002312 biolink:NamedThing somatotroph An acidophilic cell of the anterior pituitary that produces growth hormone, somatotropin. tmpaxzxjjyw_mondo_relaxed.owl somatrophic cell|somatotropic cell|somatotrope FMA:83095 tmeehan 2010-09-14T02:33:09Z cell owl:Class CL:0000295 biolink:NamedThing somatotropin secreting cell A peptide hormone secreting cell that produces growth hormone, somatotropin. tmpaxzxjjyw_mondo_relaxed.owl somatotrophin secreting cell|growth hormone secreting cell CL:0000471 cell owl:Class MONDO:0011116 biolink:NamedThing lung agenesis-heart defect-thumb anomalies syndrome Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. tmpaxzxjjyw_mondo_relaxed.owl Mardini-Nyhan syndrome|LACHT|lung agenesis, congenital heart defects, and thumb anomalies syndrome|lung agenesis heart defect thumb anomalies|Mardini-Nyhan association|Manouvrier syndrome|pulmonary aplasia and triphalangia of the thumb ICD10:Q87.8|GARD:0003378|SCTID:721976003|UMLS:C0265780|Orphanet:1120|OMIM:601612|MESH:C535708 https://rarediseases.info.nih.gov/diseases/3378/manouvrier-syndrome owl:Class MONDO:0020816 biolink:NamedThing miliaria papulosa tmpaxzxjjyw_mondo_relaxed.owl SCTID:201192006 owl:Class MONDO:0016285 biolink:NamedThing papillary carcinoma of the cervix uteri A papillary carcinoma that involves the uterine cervix. tmpaxzxjjyw_mondo_relaxed.owl uterine cervix papillary carcinoma|cervical papillary carcinoma ICD10:C53.8|Orphanet:213817|ICD10:C53.0|UMLS:CN201075|ICD10:C53.1 owl:Class MONDO:0003733 biolink:NamedThing central nervous system mature teratoma A teratoma composed exclusively of fully differentiated, 'adult-type' tissue elements that are sometimes arranged in a pattern resembling normal tissue relationships. Mitotic activity is low or absent. The more common ectodermal components present in a mature teratoma include skin, brain and choroid plexus. The more common mesodermal components include cartilage, bone, fat and muscle (both smooth and striated). And the most common endodermal components are cysts lined by epithelia of respiratory or enteric type and in some cases pancreatic or hepatic tissue. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl central nervous system mature teratoma|mature teratoma of CNS|mature teratoma of central nervous system|mature teratoma of the CNS|mature teratoma of the central nervous system|CNS mature teratoma|mature teratoma DOID:6017|NCIT:C7013|ONCOTREE:BMT|UMLS:C1332886 owl:Class MONDO:0014266 biolink:NamedThing age related macular degeneration 15 Any age-related macular degeneration in which the cause of the disease is a mutation in the C9 gene. tmpaxzxjjyw_mondo_relaxed.owl macular degeneration, age-related, 15|ARMD15|age-related macular degeneration caused by mutation in C9|macular Degeneration, age-related, type 15|C9 age-related macular degeneration|age related macular degeneration type 15 DOID:0110027|UMLS:C3810042|OMIM:615591 owl:Class MONDO:0002955 biolink:NamedThing vulva basal cell carcinoma A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis. tmpaxzxjjyw_mondo_relaxed.owl vulvar basal cell carcinoma|basal cell carcinoma of the vulva|basal cell carcinoma of vulva|mammalian vulva skin basal cell carcinoma|vulvar basal cell cancer|skin basal cell carcinoma of mammalian vulva SCTID:717731002|DOID:4301|NCIT:C6381|UMLS:C1336977|Orphanet:494451 owl:Class MONDO:0016422 biolink:NamedThing autoimmune polyendocrinopathy type 3 Autoimmune polyendocrinopathy type 3 is a rare, endocrine disease characterized by autoimmune thyroid disease associated with at least one other autoimmune disease, such as type I diabetes mellitus, chronic atrophic gastritis, pernicious anemia, vitiligo, alopecia, or myasthenia gravis, but excluding Addison disease. tmpaxzxjjyw_mondo_relaxed.owl autoimmune polyendocrine syndrome type 3|PAS3|polyglandular autoimmune syndrome type 3|autoimmune polyglandular syndrome type 3|APS3|APS type 3 GARD:0010980|UMLS:C1535942|Orphanet:227982|ICD10:E31.0|ICD9:258.1|UMLS:C3266027|SCTID:449731009 owl:Class MONDO:0012750 biolink:NamedThing lethal arthrogryposis-anterior horn cell disease syndrome tmpaxzxjjyw_mondo_relaxed.owl lethal arthrogryposis with anterior horn cell disease|LAAHD|Vuopala disease UMLS:C2678471|Orphanet:53696|OMIM:611890|SCTID:715565004|MESH:C567502 owl:Class MONDO:0006601 biolink:NamedThing pityriasis rosea A mild, self-limited skin disorder that is most commonly seen in children and young adults. It is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. There may also be itching, especially when overheated. tmpaxzxjjyw_mondo_relaxed.owl Pityriasis rosea|Pityriasis circinata DOID:8892|Wikipedia:Pityriasis_rosea|UMLS:C0032026|NCIT:C26855|EFO:1000756|SCTID:77252004|ICD10:L42|ICD9:696.3|MESH:D017515 owl:Class MONDO:0003956 biolink:NamedThing Baastrup syndrome tmpaxzxjjyw_mondo_relaxed.owl Baastrup syndrome|Baastrup's syndrome|kissing spine UMLS:C0158248|SCTID:82304009|ICD10:M48.2|ICD10:M48.20|ICD9:721.5|DOID:6643 owl:Class MONDO:0032773 biolink:NamedThing uridine-cytidineuria tmpaxzxjjyw_mondo_relaxed.owl URCTU|URIDINE-CYTIDINEURIA OMIM:618477 owl:Class MONDO:0011499 biolink:NamedThing Okamoto syndrome Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported. tmpaxzxjjyw_mondo_relaxed.owl Okamoto syndrome|congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and mental retardation|hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability|congenital hydronephrosis with cleft palate, characteristic facies, hypotonia, and intellectual disability|hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation OMIM:604916|SCTID:722065002|GARD:0004064|MESH:C565736|UMLS:C1858043|ICD10:Q87.8|Orphanet:2729 https://rarediseases.info.nih.gov/diseases/4064/okamoto-syndrome owl:Class MONDO:0017860 biolink:NamedThing methanol poisoning Methanol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the alcohol dehydrogenase (ADH)-mediated production of formic acid (which is poisonous to the central nervous system), and characterized by dizziness, nausea, vomiting, confusion, metabolic acidosis, visual disturbances (which if left untreated can lead to blindness), coma, and death (due to respiratory failure). tmpaxzxjjyw_mondo_relaxed.owl Orphanet:31825|UMLS:CN203895|ICD10:T51.1 owl:Class MONDO:0044800 biolink:NamedThing desmoplastic spitz nevus A Spitz nevus associated with fibrous stroma formation. tmpaxzxjjyw_mondo_relaxed.owl Desmoplastic spitz Nevus NCIT:C82864|SCTID:400022009|UMLS:C1275419 owl:Class UBERON:0003616 biolink:NamedThing bronchus elastic tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006918 biolink:NamedThing posterior uveitis Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis. tmpaxzxjjyw_mondo_relaxed.owl uveitis, posterior|inflammation of chorioretinal region|chorioretinal region inflammation Orphanet:280892|MESH:D015866|UMLS:C0042167|SCTID:43363007|SCTID:46627006|NCIT:C35111|GARD:0004457|DOID:12574|EFO:1001119|MedDRA:10036370 Editor note: choroid=PU. in MESH PUitis is defined to be choroid+retina+VB, and isa panuveitis. TODO check ORDO, GARD owl:Class MONDO:0056803 biolink:NamedThing sulfur metabolism disease A disease that has its basis in the disruption of sulfur compound metabolic process. tmpaxzxjjyw_mondo_relaxed.owl sulfur compound metabolic process disease|disorder of sulphur metabolism|disorder of sulfur metabolism|disorder of sulfur metabolic process|disorder of sulfur compound metabolic process UMLS:C1263724|SCTID:123809005 owl:Class MONDO:0008635 biolink:NamedThing uterine anomalies tmpaxzxjjyw_mondo_relaxed.owl uterine anomalies OMIM:192000|MESH:C562565 owl:Class UBERON:0015079 biolink:NamedThing proximal carpal cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013722 biolink:NamedThing hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene. tmpaxzxjjyw_mondo_relaxed.owl leukodystrophy caused by mutation in POLR3B|HLD8|POLR3B leukodystrophy|leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism Orphanet:88637|OMIM:614381|DOID:0060797|UMLS:C3280644|ICD10:G11.1 owl:Class MONDO:0007769 biolink:NamedThing hyperpigmentation of eyelid Over-production of pigment in the eyelid. tmpaxzxjjyw_mondo_relaxed.owl dyspigmentation of eyelid|hyperpigmentation of eyelids OMIM:145100|DOID:10122|MESH:C562400|SCTID:41115008|UMLS:C0155211|ICD10:H02.71|EFO:1000711|ICD9:374.52 owl:Class NCBITaxon:72293 biolink:NamedThing Helicobacteraceae tmpaxzxjjyw_mondo_relaxed.owl Helicobacter group PMID:16403855|PMID:29034857|GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:213849 biolink:NamedThing Campylobacterales tmpaxzxjjyw_mondo_relaxed.owl PMID:16403855|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0018042 biolink:NamedThing immunodeficiency syndrome with abnormal pigmentation tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency syndrome with hypopigmentation 2022-03-01 UMLS:CN204283|Orphanet:331249 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: immunodeficiency disease' MONDO_0021094 owl:Class MONDO:0002267 biolink:NamedThing obstructive lung disease Any disorder marked by obstruction of conducting airways of the lung. airway obstruction may be acute, chronic, intermittent, or persistent. tmpaxzxjjyw_mondo_relaxed.owl respiratory airway obstruction UMLS:C0600260|DOID:2320|MESH:D008173 owl:Class CL:1000277 biolink:NamedThing smooth muscle fiber of jejunum A smooth muscle cell that is part of the jejunum. tmpaxzxjjyw_mondo_relaxed.owl non-striated muscle fiber of jejunum FMA:15062 cell owl:Class CL:1000275 biolink:NamedThing smooth muscle cell of small intestine A smooth muscle cell that is part of the small intestine. tmpaxzxjjyw_mondo_relaxed.owl non-striated muscle fiber of small intestine FMA:15050 cell owl:Class UBERON:0004764 biolink:NamedThing intramembranous bone tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010828 biolink:NamedThing positive regulation of glucose transmembrane transport Any process that increases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of glucose transport owl:Class MONDO:0006762 biolink:NamedThing freemartinism A condition occurring in the female offspring of dizygotic twins (twin, dizygotic) in a mixed-sex pregnancy, usually in cattle. Freemartinism can occur in other mammals. When placental fusion between the male and the female fetuses permits the exchange of fetal cells and fetal hormones, testicular hormones from the male fetus can androgenize the female fetus producing a sterile xx/xy chimeric 'female'(chimerism). tmpaxzxjjyw_mondo_relaxed.owl MESH:D005611|UMLS:C0016697|EFO:1000939|DOID:4671 owl:Class MONDO:0011764 biolink:NamedThing autosomal dominant Parkinson disease 8 Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene. tmpaxzxjjyw_mondo_relaxed.owl Parkinson disease caused by mutation in LRRK2|autosomal dominant Parkinson's disease 8|Parkinson disease 8, autosomal dominant|autosomal dominant Parkinson disease type 8|autosomal dominant Parkinson disease 8|LRRK2 Parkinson disease|PARK8 OMIM:607060|Orphanet:411602|UMLS:C1846862|DOID:0060371 owl:Class MONDO:0044647 biolink:NamedThing kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:496686|OMIM:617114 owl:Class MONDO:0005791 biolink:NamedThing herpangina A viral infectious disease that results in infection located in mouth, has material basis in Human coxsackievirus A16, has material basis in Human enterovirus 71, has material basis in group B coxsackievirus, or has material basis in echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. tmpaxzxjjyw_mondo_relaxed.owl vesicular pharyngitis DOID:10883|EFO:0007306|MESH:D006557|ICD10:B08.5|ICD9:074.0|SCTID:274102007|UMLS:C0019338 owl:Class HP:0002034 biolink:NamedThing Abnormal rectum morphology An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. tmpaxzxjjyw_mondo_relaxed.owl Anomaly of the rectum|Abnormality of the rectum UMLS:C0266210|SNOMEDCT_US:86993003 human_phenotype owl:Class GO:0004614 biolink:NamedThing phosphoglucomutase activity Catalysis of the reaction: alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate. tmpaxzxjjyw_mondo_relaxed.owl glucose phosphomutase activity|alpha-D-glucose 1,6-phosphomutase activity|phosphoglucose mutase activity owl:Class ECTO:9000175 biolink:NamedThing exposure to metal cation An exposure to metal cation. tmpaxzxjjyw_mondo_relaxed.owl exposure to metal cation owl:Class MONDO:0010885 biolink:NamedThing angiokeratoma corporis diffusum with arteriovenous fistulas tmpaxzxjjyw_mondo_relaxed.owl angiokeratoma corporis diffusum with arteriovenous fistulas MESH:C563940|UMLS:C1838141|OMIM:600419 owl:Class MONDO:0024873 biolink:NamedThing clitoral carcinoma A carcinoma that arises from the clitoris. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of clitoris|clitoral carcinoma|clitoris carcinoma|carcinoma of the clitoris|clitoral cancer UMLS:C1333070|NCIT:C9362 owl:Class MONDO:0002290 biolink:NamedThing clitoris cancer A malignant neoplasm that affects the clitoris. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of clitoris|malignant tumor of the clitoris|malignant clitoris tumor|malignant clitoral neoplasm|clitoral Ca|malignant neoplasm of clitoris|malignant clitoral tumor|cancer of clitoris|clitoris cancer|malignant neoplasm of the clitoris|malignant tumor of clitoris|malignant clitoris neoplasm NCIT:C9362|NCIT:C3557|SCTID:371979001|DOID:2401|ICD9:184.3|UMLS:C0153589|UMLS:C1333070|ICD10:C51.2 owl:Class MONDO:0009393 biolink:NamedThing ornithine translocase deficiency Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction. tmpaxzxjjyw_mondo_relaxed.owl ORNT1 deficiency|ornithine carrier deficiency|triple H syndrome|HHHS|hyperornithinemia-hyperammonemia-homocitrullinuria syndrome|hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome|Hhh syndrome|HHH syndrome|ornithine translocase deficiency|HHH|ornithine translocase deficiency syndrome OMIM:238970|MESH:C538380|SCTID:30287008|DOID:0050720|UMLS:C0268540|GARD:0002830|NCIT:C129029|ICD10:E72.4|Orphanet:415 owl:Class MONDO:0029135 biolink:NamedThing muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 tmpaxzxjjyw_mondo_relaxed.owl Muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related|MDDGC8|LGMD-POMGNT2 related myopathy|muscular dystrophy-dystroglycanopathy (limb-girdle), TYPE C, 8|muscular dystrophy, limb-girdle, autosomal recessive 24 OMIM:618135 owl:Class MONDO:0004502 biolink:NamedThing parapharyngeal meningioma tmpaxzxjjyw_mondo_relaxed.owl DOID:8216|NCIT:C5303|UMLS:C1335345 owl:Class MONDO:0012835 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 11 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the STAT4 gene. tmpaxzxjjyw_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, type 11|systemic lupus erythematosus (disease) caused by mutation in STAT4|systemic lupus erythematosus, susceptibility to, 11|STAT4 systemic lupus erythematosus (disease)|susceptibility to systemic lupus erythematosus 11|SLEB11 OMIM:612253 owl:Class MONDO:0006138 biolink:NamedThing cervical large cell neuroendocrine carcinoma A rare, aggressive neuroendocrine carcinoma that arises from the cervix and is characterized by the presence of malignant cells with abundant cytoplasm, large nuclei, and prominent nucleoli. tmpaxzxjjyw_mondo_relaxed.owl cervical neuroendocrine tumor|cervical large cell neuroendocrine carcinoma UMLS:C1516417|EFO:1000167|NCIT:C40214|DOID:6659|ONCOTREE:CENE owl:Class GO:0022803 biolink:NamedThing passive transmembrane transporter activity Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. tmpaxzxjjyw_mondo_relaxed.owl porters|uniporter activity z|facilitated diffusion owl:Class UBERON:0014466 biolink:NamedThing subarachnoid fissure tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:58951 biolink:NamedThing short-chain fatty acid anion Any fatty acid anion obtained by removal of a proton from the carboxy group of a short-chain fatty acid (chain length of less than C6). tmpaxzxjjyw_mondo_relaxed.owl short-chain fatty acid anions|a short-chain fatty acid owl:Class MONDO:0009922 biolink:NamedThing Pseudouridinuria and mental defect tmpaxzxjjyw_mondo_relaxed.owl Pseudouridinuria and mental defect UMLS:C1849648|OMIM:264500|MESH:C564864 owl:Class ENVO:04000004 biolink:NamedThing concentration of carbon dioxide in air The concentration of carbon dioxide when measured in air. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017383 biolink:NamedThing familial clubfoot due to PITX1 point mutation tmpaxzxjjyw_mondo_relaxed.owl hereditary clubfoot due to PITX1 point mutation UMLS:CN203110|OMIM:119800|Orphanet:293150|ICD10:Q66.8 owl:Class HGNC:20661 biolink:NamedThing SLC25A26 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:9001751 biolink:NamedThing exposure to antiprotozoal drug An exposure to antiprotozoal drug. tmpaxzxjjyw_mondo_relaxed.owl exposure to antiprotozoal drug owl:Class GO:0008285 biolink:NamedThing negative regulation of cell population proliferation Any process that stops, prevents or reduces the rate or extent of cell proliferation. tmpaxzxjjyw_mondo_relaxed.owl inhibition of cell proliferation|negative regulation of cell proliferation|downregulation of cell proliferation|down-regulation of cell proliferation|down regulation of cell proliferation owl:Class MONDO:0007465 biolink:NamedThing distichiasis with congenital anomalies of the heart and peripheral vasculature tmpaxzxjjyw_mondo_relaxed.owl distichiasis-congenital heart defects-peripheral vascular anomalies syndrome|distichiasis with congenital anomalies of the heart and peripheral vasculature OMIM:126320|UMLS:C1852062|MESH:C565092|Orphanet:1683 owl:Class MONDO:0014948 biolink:NamedThing short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay tmpaxzxjjyw_mondo_relaxed.owl short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD|short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay|SRMMD OMIM:617164|UMLS:C4310686 owl:Class MONDO:0017385 biolink:NamedThing malignant migrating partial seizures of infancy A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay. tmpaxzxjjyw_mondo_relaxed.owl malignant migrating Partial seizures in infancy|malignant migrating partial epilepsy of infancy|MMPEI|migrating partial epilepsy of infancy|MPEI|migrating Partial seizures in infancy|migrating partial seizures of infancy|MPSI|MMPSI OMIM:614959|OMIM:616645|Orphanet:293181|NCIT:C125387|UMLS:CN203114|OMIM:615338|GARD:0012919|OMIM:613722|UMLS:CN240507 owl:Class GO:0036072 biolink:NamedThing direct ossification The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance, that does not require the replacement of preexisting tissues. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000390 biolink:NamedThing vitelliform macular dystrophy A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision. tmpaxzxjjyw_mondo_relaxed.owl vitelliform macular dystrophy|macular dystrophy, vitelliform SCTID:90036004|MESH:D057826|ICD10:H35.5|DOID:0050661|OMIMPS:153840|Orphanet:99000|NCIT:C118788|OMIM:616151|OMIM:608161|OMIM:153840|UMLS:C0339510|Orphanet:1243|OMIM:616152|OMIM:153700 owl:Class MONDO:0015238 biolink:NamedThing arrhinia-choanal atresia-microphthalmia syndrome Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. tmpaxzxjjyw_mondo_relaxed.owl congenital absence of nose and anterior nasopharynx|Bosma Henkin Christiansen syndrome|arhinia choanal atresia microphthalmia|Bosma arhinia microphthalmia syndrome ICD10:Q87.0|OMIM:603457|GARD:0008755|Orphanet:1135 https://rarediseases.info.nih.gov/diseases/8755/arhinia-choanal-atresia-microphthalmia owl:Class MONDO:0014320 biolink:NamedThing optic atrophy-intellectual disability syndrome Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific. tmpaxzxjjyw_mondo_relaxed.owl optic atrophy-intellectual disability syndrome|BBSOAS|BOSCH-Boonstra-Schaaf optic atrophy syndrome ICD10:H47.2|Orphanet:401777|UMLS:C3810363|OMIM:615722 owl:Class UBERON:0009651 biolink:NamedThing nephron tubule basement membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3255 biolink:NamedThing EIF2AK3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0030895 biolink:NamedThing Abnormal gastrointestinal motility An anomaly of the muscular contractions that propel food though the gastrointestinal tract. tmpaxzxjjyw_mondo_relaxed.owl Abnormal GI motility human_phenotype owl:Class MONDO:0030936 biolink:NamedThing epilepsy, progressive myoclonic, 12 tmpaxzxjjyw_mondo_relaxed.owl EPM12|epilepsy, progressive myoclonic, 12 OMIM:619191 owl:Class MONDO:0007201 biolink:NamedThing blepharophimosis, ptosis, and epicanthus inversus syndrome Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II). tmpaxzxjjyw_mondo_relaxed.owl BPES with ovarian failure|BPES, type 2|blepharophimosis, ptosis, and epicanthus inversus syndrome|blepharophimosis syndrome type 1|BPES|BPES type 1|blepharophimosis, ptosis, epicanthus inversus syndrome|blepharophimosis, ptosis, and epicanthus inversus|blepharophimosis, ptosis, and epicanthus inversus syndrome type 1|BPES without ovarian failure|BPES, type I, autosomal recessive|blepharophimosis-epicanthus inversus-ptosis syndrome|BPES with Duane retraction syndrome|blepharophimosis, ptosis, epicanthus inversus with ovarian failure|blepharophimosis types 1 and 2|BPES with premature ovarian failure|BPES, type 1 ICD10:Q10.3|GARD:0000023|UMLS:C0220663|Orphanet:126|OMIM:110100|SCTID:715391004|MESH:C562419|DOID:14778 owl:Class MONDO:0008537 biolink:NamedThing telecanthus tmpaxzxjjyw_mondo_relaxed.owl telecanthus ICD10:Q10.3|OMIM:187350|Orphanet:98575|MESH:C562941 owl:Class GO:0002574 biolink:NamedThing thrombocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a thrombocyte, a nucleated cell found in all vertebrates but mammals involved in hemostasis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009720 biolink:NamedThing Keipert syndrome A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis. tmpaxzxjjyw_mondo_relaxed.owl Keipert syndrome|KPTS|nasodigitoacoustic syndrome, formerly|nasodigitoacoustic syndrome SCTID:763774001|OMIM:301026|UMLS:C1850627|OMIM:255980|ICD10:Q87.0|GARD:0000267|Orphanet:2662|MESH:C538337 owl:Class MONDO:0016336 biolink:NamedThing fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:217616|UMLS:CN226905 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: disorder of fatty acid oxidation and ketogenesis' MONDO_0017713 owl:Class MONDO:0019373 biolink:NamedThing desmoplastic small round cell tumor Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases. tmpaxzxjjyw_mondo_relaxed.owl Polyphenotypic small round cell tumor|desmoplastic small-round-cell tumor|Desmoplas. small round cell tumor|desmoplastic small round cell tumor|Desmoplastic small round-cell neoplasm|DSRCT|Desmoplastic small round cell tumor|Desmoplastic small round-cell tumor UMLS:C0281508|GARD:0006265|ICDO:8806/3|NCIT:C8300|ICD10:C48.2|ONCOTREE:DSRCT|Orphanet:83469|MedDRA:10064581|HGNC:12796|MESH:D058405|EFO:1000895|MedDRA:10064587 https://rarediseases.info.nih.gov/diseases/6265/desmoplastic-small-round-cell-tumor owl:Class MONDO:0007758 biolink:NamedThing epidermolytic palmoplantar keratoderma A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas. tmpaxzxjjyw_mondo_relaxed.owl Ppke|hyperkeratosis palmoplantar localized epidermolytic|keratosis of Greither|diffuse erythrodermic palmoplantar keratoderma, VC6rner type|palmoplantar keratoderma, epidermolytic, with knuckle pads|palmoplantar keratoderma, Vorner type|EPPK|hyperkeratosis, localized epidermolytic|epidermolytic palmoplantar keratoderma of VC6rner|epidermolytic palmoplantar keratoderma of Voerner|palmoplantar keratoderma, epidermolytic|keratoderma, epidermolytic palmoplantar|diffuse erythrodermic palmoplantar keratoderma, Voerner type|epidermolytic palmoplantar keratoderma of Vörner|diffuse erythrodermic palmoplantar keratoderma, Vörner type|tylosis|keratosis palmaris Et plantaris Familiaris NCIT:C84693|ICD10:Q82.8|UMLS:C0022584|OMIM:144200|UMLS:C1721006|Orphanet:2199|ICD9:757.39|SCTID:399955009|DOID:0080223|GARD:0002826 https://rarediseases.info.nih.gov/diseases/2826/epidermolytic-palmoplantar-keratoderma owl:Class MONDO:0009707 biolink:NamedThing myopathy with giant abnormal mitochondria tmpaxzxjjyw_mondo_relaxed.owl myopathy with giant abnormal mitochondria UMLS:C1850717|MESH:C564971|OMIM:255140 owl:Class MONDO:0044687 biolink:NamedThing chronic relapsing inflammatory optic neuropathy tmpaxzxjjyw_mondo_relaxed.owl chronic recurrent isolated optic neuritis|CRION Orphanet:499085 owl:Class MONDO:0043106 biolink:NamedThing ichthyosis linearis circumflexa tmpaxzxjjyw_mondo_relaxed.owl ichthyosis linearis circumflexa SCTID:54336006|GARD:0002967 https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0003902 biolink:NamedThing brain stem hemangioblastoma A hemangioblastoma that involves the brainstem. tmpaxzxjjyw_mondo_relaxed.owl angioblastoma of brain stem|hemangioblastoma of the brainstem|brainstem hemangioblastoma|hemangioblastoma of brain stem|brain stem hemangioblastoma|brainstem angioblastoma|hemangioblastoma of brainstem|brain stem capillary hemangioblastoma|hemangioblastoma of the brain stem|angioblastoma of brainstem|angioblastoma of the brain stem|brain stem angioblastoma|angioblastoma of the brainstem NCIT:C5147|UMLS:C1332611|DOID:6501 owl:Class GO:0070133 biolink:NamedThing negative regulation of mitochondrial translational initiation Any process that stops, prevents, or reduces the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of mitochondrial translation initiation owl:Class NCBITaxon:6843 biolink:NamedThing Chelicerata tmpaxzxjjyw_mondo_relaxed.owl chelicerates GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017013 biolink:NamedThing trisomy 8p Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported. tmpaxzxjjyw_mondo_relaxed.owl trisomy type 8p|Duplication 8p Orphanet:264450|ICD10:Q92.2|MESH:C538019 owl:Class MONDO:0014017 biolink:NamedThing autism, susceptibility to, 18 tmpaxzxjjyw_mondo_relaxed.owl autism, susceptibility to, 18|AUTS18|susceptibility to autism 18|autism, susceptibility to, type 18 OMIM:615032 owl:Class GO:1901717 biolink:NamedThing positive regulation of gamma-aminobutyric acid catabolic process Any process that activates or increases the frequency, rate or extent of gamma-aminobutyric acid catabolic process. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of gamma-aminobutyric acid breakdown|up regulation of 4-aminobutanoate catabolism|up-regulation of 4-aminobutanoate catabolism|activation of gamma-aminobutyric acid breakdown|up regulation of 4-aminobutyrate catabolism|activation of 4-aminobutyrate catabolism|up regulation of gamma-aminobutyric acid catabolic process|upregulation of 4-aminobutyrate catabolism|upregulation of 4-aminobutanoate catabolism|positive regulation of gamma-aminobutyric acid catabolism|upregulation of 4-aminobutanoate catabolic process|positive regulation of 4-aminobutyrate catabolic process|activation of 4-aminobutyrate catabolic process|up regulation of GABA catabolic process|activation of gamma-aminobutyric acid catabolic process|upregulation of gamma-aminobutyric acid degradation|up regulation of gamma-aminobutyric acid degradation|upregulation of GABA catabolic process|upregulation of gamma-aminobutyric acid breakdown|up-regulation of 4-aminobutanoate catabolic process|activation of 4-aminobutanoate catabolism|upregulation of gamma-aminobutyric acid catabolism|positive regulation of GABA catabolic process|up-regulation of 4-aminobutyrate catabolic process|up-regulation of 4-aminobutyrate catabolism|positive regulation of 4-aminobutyrate catabolism|up regulation of gamma-aminobutyric acid catabolism|activation of 4-aminobutanoate catabolic process|activation of gamma-aminobutyric acid degradation|up-regulation of GABA catabolic process|activation of GABA catabolic process|up-regulation of GABA catabolism|activation of gamma-aminobutyric acid catabolism|positive regulation of 4-aminobutanoate catabolism|up-regulation of gamma-aminobutyric acid degradation|positive regulation of GABA catabolism|upregulation of gamma-aminobutyric acid catabolic process|positive regulation of gamma-aminobutyric acid degradation|up regulation of GABA catabolism|up-regulation of gamma-aminobutyric acid catabolism|up regulation of gamma-aminobutyric acid breakdown|upregulation of GABA catabolism|up-regulation of gamma-aminobutyric acid catabolic process|up regulation of 4-aminobutanoate catabolic process|positive regulation of 4-aminobutanoate catabolic process|positive regulation of gamma-aminobutyric acid breakdown|activation of GABA catabolism|up regulation of 4-aminobutyrate catabolic process|upregulation of 4-aminobutyrate catabolic process owl:Class HP:0001298 biolink:NamedThing Encephalopathy Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:81308009|MSH:D001927|UMLS:C0085584 This term and its children are general and bundled terms that are kept for convenience. For new annotations, it is recommended that the specific phenotypic abnormalities be noted. human_phenotype owl:Class NCBITaxon:4893 biolink:NamedThing Saccharomycetaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:221665|NCBITaxon:44280 ncbi_taxonomy owl:Class MONDO:0036779 biolink:NamedThing axillary neoplasm A benign or malignant neoplasm that affects the structures of the axilla. Representative examples include axillary lipoma, axillary lymph node lymphoma, and metastatic carcinoma to the axillary lymph nodes. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of axilla|axilla neoplasm|tumor of axilla|axillary neoplasm|axilla tumor SCTID:126639006|NCIT:C35749|UMLS:C1290308 owl:Class GO:0090327 biolink:NamedThing negative regulation of locomotion involved in locomotory behavior Any process that decreases the frequency, rate, or extent of the self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032485 biolink:NamedThing intellectual developmental disorder 61 tmpaxzxjjyw_mondo_relaxed.owl MRD61|INTELLECTUAL DEVELOPMENTAL DISORDER 61|Mental Retardation, Autosomal Dominant 61 OMIM:618009 owl:Class MONDO:0008416 biolink:NamedThing palmoplantar keratoderma-sclerodactyly syndrome tmpaxzxjjyw_mondo_relaxed.owl Huriez syndrome|SCLEROTYLOSIS|Sclerotylosis|Scleroatrophic syndrome|HRZ|Tys|HURIEZ syndrome|atrophic fibrosis of the skin of the limbs, hypoplasia of nails, and keratodermia of the palms and soles|palmoplantar hyperkeratosis-sclerodactyly syndrome|Scleroatrophic and keratotic dermatosis of limbs OMIM:181600|ICD9:757.39|ICD10:Q82.8|GARD:0008517|MESH:C537526|Orphanet:384|SCTID:239076000 https://rarediseases.info.nih.gov/diseases/8517/palmoplantar-keratoderma-sclerodactyly-syndrome owl:Class OBO:CHR_9606-chr2q33 biolink:NamedThing 2q33 (Human) tmpaxzxjjyw_mondo_relaxed.owl 208200000 196600000 hg38 owl:Class GO:1904062 biolink:NamedThing regulation of cation transmembrane transport Any process that modulates the frequency, rate or extent of cation transmembrane transport. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009378 biolink:NamedThing hyper-beta-alaninemia Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case. tmpaxzxjjyw_mondo_relaxed.owl hyper-beta-alaninemia|hyperalaninemia|hyperbetaalaninemia SCTID:2359002|Orphanet:309147|UMLS:C0268630|ICD10:E79.8|OMIM:237400|GARD:0010267|MESH:C562684|ICD9:270.8 https://rarediseases.info.nih.gov/diseases/10267/hyperbetaalaninemia owl:Class MONDO:0002444 biolink:NamedThing melancholia A subtype of depression characterized by the inability to find pleasure in positive things combined with physical agitation, insomnia, or decreased appetite. tmpaxzxjjyw_mondo_relaxed.owl depression with melancholic features|melancholic depression NCIT:C34812|DOID:2848|MESH:D003866|SCTID:35489007 owl:Class MONDO:0008530 biolink:NamedThing teeth, odd shapes of tmpaxzxjjyw_mondo_relaxed.owl Lobodontia|teeth, odd shapes of|conical teeth, multiple MESH:C566076|UMLS:C1861274|OMIM:187000 owl:Class MONDO:0033543 biolink:NamedThing cone-rod synaptic disorder syndrome, congenital nonprogressive tmpaxzxjjyw_mondo_relaxed.owl CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE|CRSDS OMIM:618970 owl:Class MONDO:0011465 biolink:NamedThing infundibulocystic basal cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl basal cell carcinoma with follicular differentiation|basal cell carcinoma, infundibulocystic|skin infundibulocystic basal cell carcinoma MESH:C537655|DOID:4279|OMIM:604451|NCIT:C27540|GARD:0009788|UMLS:C1304297 https://rarediseases.info.nih.gov/diseases/9788/basal-cell-carcinoma-infundibulocystic owl:Class MONDO:0014693 biolink:NamedThing Noonan syndrome 10 Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene. tmpaxzxjjyw_mondo_relaxed.owl Noonan syndrome 10|Noonan syndrome type 10|Noonan syndrome caused by mutation in LZTR1|NS10|LZTR1 Noonan syndrome DOID:0060588|OMIM:616564|UMLS:C4225280|Orphanet:648 owl:Class MONDO:0002532 biolink:NamedThing squamous cell neoplasm A neoplasm that is composed of squamous epithelial cells. Squamous cell carcinoma is a representative example. tmpaxzxjjyw_mondo_relaxed.owl squamous cell tumor|epidermoid cell neoplasm|squamous cell neoplasm|epidermoid cell tumor|squamous cell tumor (qualifier value) UMLS:C0206720|DOID:3168|NCIT:C3792|MESH:D018307 owl:Class HP:0005257 biolink:NamedThing Thoracic hypoplasia tmpaxzxjjyw_mondo_relaxed.owl Small thorax|Small chest UMLS:C1837482 HP:0001590 human_phenotype owl:Class HGNC:25947 biolink:NamedThing KLHL24 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060099 biolink:NamedThing regulation of phagocytosis, engulfment Any process that modulates the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000006 biolink:NamedThing exposure to ultraviolet radiation A exposure event involving the interaction of an exposure receptor to ultraviolet radiation. tmpaxzxjjyw_mondo_relaxed.owl ultraviolet radiation exposure owl:Class MONDO:0014979 biolink:NamedThing myoclonus, intractable, neonatal tmpaxzxjjyw_mondo_relaxed.owl myoclonus, intractable, neonatal; NEIMY|myoclonus, intractable, neonatal|NEIMY OMIM:617235|UMLS:C4310658 owl:Class MONDO:0018870 biolink:NamedThing arterial calcification of infancy Idiopathic arterial calcification of infancy is a rare condition characterized by extensive calcification and stenosis of the large and medium sized arteries. tmpaxzxjjyw_mondo_relaxed.owl generalized arterial calcification in infancy|generalized arterial calcification of infancy|IIAC|idiopathic obliterative arteriopathy|occlusive infantile arteriopathy|infantile arteriosclerosis|idiopathic infantile arterial calcification Orphanet:51608|GARD:0008380|DOID:0050644|OMIM:208000|OMIM:614473|OMIMPS:208000|MESH:C537440|ICD10:Q28.8 owl:Class MONDO:0043185 biolink:NamedThing pointer syndrome tmpaxzxjjyw_mondo_relaxed.owl skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties GARD:0004395|MESH:C536323|UMLS:C0796118 owl:Class MONDO:0015402 biolink:NamedThing mandibular arteriovenous malformation Mandibular arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the mandibular area, commonly presenting with minor gingival bleeding, dental loosening, lower lip numbness, facial deformity and malocclusion. This usually high-flow vascular malformation may also present with potentially life-threatening, spontaneous, or tooth extraction-induced, hemorrhagic shock. tmpaxzxjjyw_mondo_relaxed.owl arteriovenous malformation of mandible ICD10:Q27.3|Orphanet:141174|SCTID:703334000 owl:Class MONDO:0015500 biolink:NamedThing facial arteriovenous malformation Facial arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the facial area. Lesions may be asymptomatic or may manifest with pain, ulceration, pulsation, tinnitus, minor bleeding or potentially life-threatening hemorrhage, blurred vision, impaired hearing, headache, paresthesia, enlargement of facial bones with intraosseous lesions, intraosseous hemangiomas, and speech, breathing and swallowing difficulties, as well as neuropathy. tmpaxzxjjyw_mondo_relaxed.owl GARD:0012663|ICD10:Q27.3|Orphanet:156230 https://rarediseases.info.nih.gov/diseases/12663/facial-arteriovenous-malformation owl:Class NCBITaxon:8015 biolink:NamedThing Salmonidae tmpaxzxjjyw_mondo_relaxed.owl salmonids GC_ID:1|PMID:15062801 ncbi_taxonomy owl:Class NCBITaxon:8006 biolink:NamedThing Salmoniformes tmpaxzxjjyw_mondo_relaxed.owl salmons and trouts GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003899 biolink:NamedThing adult myxoid chondrosarcoma A myxoid chondrosarcoma occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl adult myxoid chondrosarcoma|myxoid chondrosarcoma of adults UMLS:C1332209|DOID:6495|NCIT:C27378 owl:Class MONDO:0003681 biolink:NamedThing myxoid chondrosarcoma A chondrosarcoma characterized by the presence of myxoid changes. tmpaxzxjjyw_mondo_relaxed.owl myxoid chondrosarcoma|MYCHS ICDO:9231/3|NCIT:C4303|UMLS:C0334551|DOID:5861|ONCOTREE:MYCHS owl:Class MONDO:0009216 biolink:NamedThing glycogen storage disease due to GLUT2 deficiency Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism. tmpaxzxjjyw_mondo_relaxed.owl FBS|pseudo-phlorizin diabetes|hepatorenal glycogenosis with renal fanconi syndrome|glycogenosis due to GLUT2 deficiency|glycogen storage disease type XI|Fanconi-Bickel syndrome|Fanconi syndrome with intestinal malabsorption and galactose intolerance|glycogen storage disease 11|GLUT2 deficiency|glycogenosis Fanconi EXACT|hepatic glycogenosis with Fanconi nephropathy|GSD due to GLUT2 deficiency|glycogen storage disease type 11|Fanconi Bickel syndrome|hepatic glycogenosis with amino aciduria and glucosuria|glycogenosis, Fanconi type|Bickel-Fanconi glycogenosis|glycogen storage disease XI|hepatorenal glycogenosis with renal Fanconi syndrome|GSD type 11|glycogen storage disease due to GLUT2 deficiency|Fanconi-Bickel disease|GSD type XI ICD10:E74.0|GARD:0002268|Orphanet:2088|SCTID:61598006|OMIM:227810 https://rarediseases.info.nih.gov/diseases/2268/fanconi-bickel-syndrome owl:Class MONDO:0006089 biolink:NamedThing appendix goblet cell carcinoid An invasive mixed adenoneuroendocrine carcinoma of the appendix characterized by a submucosal growth and the presence of neoplastic signet-ring cells resembling goblet cells of the intestine. tmpaxzxjjyw_mondo_relaxed.owl mucinous carcinoid tumor|goblet cell carcinoid of the appendix|appendix mixed carcinoid-adenocarcinoma|goblet cell carcinoid tumor|goblet cell carcinoid of appendix|appendix adenocarcinoid tumor|appendix goblet cell carcinoid tumor ICDO:8243/3|NCIT:C3689|ONCOTREE:GCCAP|EFO:1000090 owl:Class MONDO:0024557 biolink:NamedThing ataxia-telangiectasia-like disorder 1 Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene. tmpaxzxjjyw_mondo_relaxed.owl ataxia-telangiectasia-like disorder caused by mutation in MRE11|ataxia-telangiectasia-like disorder 1|ataxia - telangiectasia-like disorder caused by mutation in MRE11|ATLD1|MRE11 ataxia - telangiectasia-like disorder|MRE11 ataxia-telangiectasia-like disorder|Atld OMIM:604391|NCIT:C132224|UMLS:C1858391|Orphanet:251347 owl:Class CHEBI:22501 biolink:NamedThing aminodiol An amino alcohol having two hydroxy functional groups. tmpaxzxjjyw_mondo_relaxed.owl amino diols|aminodiols|amino diol owl:Class CHEBI:23824 biolink:NamedThing diol A compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. Aliphatic diols are also called glycols. tmpaxzxjjyw_mondo_relaxed.owl diols owl:Class CHEBI:46965 biolink:NamedThing (2R,3S)-2-aminooctadec-4-ene-1,3-diol A 2-aminooctadec-4-ene-1,3-diol having (2R,3S)-configuration. tmpaxzxjjyw_mondo_relaxed.owl (2R,3S)-2-aminooctadec-4-ene-1,3-diol owl:Class CHEBI:46964 biolink:NamedThing 2-aminooctadec-4-ene-1,3-diol A 2-aminooctadecene-1,3-diol having its double bond at position 4. tmpaxzxjjyw_mondo_relaxed.owl 2-aminooctadec-4-ene-1,3-diols|2-aminooctadec-4-ene-1,3-diol owl:Class MONDO:0007729 biolink:NamedThing developmental dysplasia of the hip 1 tmpaxzxjjyw_mondo_relaxed.owl hip dysplasia, congenital|DDH1|developmental dysplasia of the hip 1|acetabular dysplasia|hip dysplasia, developmental OMIM:142700 owl:Class CL:2000018 biolink:NamedThing endothelial cell of coronary artery Any endothelial cell of artery that is part of a coronary artery. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-04T17:08:47Z cell owl:Class MONDO:0003930 biolink:NamedThing non-invasive bladder urothelial carcinoma Stage 0 includes: 0a (Ta, N0, M0); 0is (Tis, N0, M0). Ta: Noninvasive papillary carcinoma. Tis: Carcinoma in situ: "flat tumor". N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.) tmpaxzxjjyw_mondo_relaxed.owl stage 0 transitional cell carcinoma of urinary bladder|stage 0 transitional cell carcinoma of the bladder|stage 0 bladder urothelial carcinoma aJCC v6 and v7|non-invasive bladder urothelial carcinoma|stage 0 bladder urothelial cancer|stage 0 bladder urothelial carcinoma|stage 0 transitional cell carcinoma of the urinary bladder|stage 0 bladder urothelial carcinoma aJCC v7|stage 0 bladder urothelial carcinoma aJCC v6|stage 0 urinary bladder transitional cell carcinoma|stage 0 transitional cell carcinoma of bladder NCIT:C6188|UMLS:C1336089|DOID:6571 owl:Class MONDO:0009621 biolink:NamedThing microcephaly-cervical spine fusion anomalies syndrome Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl microcephaly with cervical spine fusion anomalies|microcephaly cervical spine fusion anomalies|microcephaly, mild intellectual disability, short stature, and skeletal anomalies|microcephaly, mild mental retardation, short stature, and skeletal anomalies ICD10:Q87.8|GARD:0003610|SCTID:715462003|Orphanet:2522|MESH:C537325|OMIM:251250|UMLS:C0796066 owl:Class MONDO:0007739 biolink:NamedThing Huntington disease Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. tmpaxzxjjyw_mondo_relaxed.owl HD|Huntington chorea|Huntington disease|Huntington's disease|Huntington's chorea ICD10:G10|SCTID:58756001|Orphanet:399|GARD:0006677|DOID:12858|KEGG:05016|MedDRA:10070668|UMLS:C0020179|Orphanet:248111|OMIM:143100|ICD9:333.4|NCIT:C82342 owl:Class MONDO:0000167 biolink:NamedThing Huntington disease and related disorders A grouping for Huntington disease and similar diseases. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007727 biolink:NamedThing autosomal dominant familial periodic fever Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis. tmpaxzxjjyw_mondo_relaxed.owl TNF receptor 1-associated periodic syndrome|tumor necrosis factor receptor 1 associated periodic syndrome|Hibernian fever, familial|TRAPS|familial Hibernian fever|FPF|FHF|tumor necrosis factor receptor 1-associated periodic syndrome|tumor necrosis factor receptor-associated periodic syndrome|TNF receptor-associated periodic fever syndrome|periodic FEVER, familial, autosomal dominant|TRAPS syndrome|TNF receptor-associated periodic syndrome Orphanet:32960|ICD10:E85.0|NCIT:C119051|DOID:0090018|MESH:C536657|SCTID:403833009|OMIM:142680|GARD:0008457 owl:Class GO:2000214 biolink:NamedThing regulation of proline metabolic process Any process that modulates the frequency, rate or extent of proline metabolic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of proline metabolism owl:Class HGNC:6826 biolink:NamedThing MAN2B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035165 biolink:NamedThing posterior surface of prostate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018749 biolink:NamedThing hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells. tmpaxzxjjyw_mondo_relaxed.owl HPFH-beta-thalassemia syndrome HGNC:5153|OMIM:142470|OMIM:141749|HGNC:3627|OMIM:613566|Orphanet:46532|ICD10:D56.4|UMLS:CN205122 owl:Class UBERON:0004516 biolink:NamedThing smooth muscle tissue of terminal bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:634 biolink:NamedThing AQP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901020 biolink:NamedThing negative regulation of calcium ion transmembrane transporter activity Any process that stops, prevents or reduces the frequency, rate or extent of calcium ion transmembrane transporter activity. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of calcium ion transmembrane transporter activity|down regulation of calcium ion transmembrane transporter activity|inhibition of calcium ion transmembrane transporter activity|downregulation of calcium ion transmembrane transporter activity owl:Class MONDO:0007349 biolink:NamedThing familial cold autoinflammatory syndrome 1 Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene. tmpaxzxjjyw_mondo_relaxed.owl cold urticaria, familial|familial cold autoinflammatory syndrome 1|Fcas|NLRP3 familial cold autoinflammatory syndrome|familial cold autoinflammatory syndrome caused by mutation in NLRP3|cold hypersensitivity|cold-induced autoinflammatory syndrome, familial|Cryopyrin-associated periodic syndrome 1|FCAS1|familial cold autoinflammatory syndrome type 1 Orphanet:47045|UMLS:C0343068|OMIM:120100|SCTID:238687000|DOID:0090062|ICD10:L50.2 owl:Class SO:0000733 biolink:NamedThing feature_attribute An attribute describing a located_sequence_feature. tmpaxzxjjyw_mondo_relaxed.owl feature attribute owl:Class HP:0000826 biolink:NamedThing Precocious puberty The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. tmpaxzxjjyw_mondo_relaxed.owl Early onset of puberty|Early puberty SNOMEDCT_US:400179000|UMLS:C0034013|MSH:D011629|SNOMEDCT_US:123527003 human_phenotype owl:Class HP:0100000 biolink:NamedThing Early onset of sexual maturation An early onset of puberty, in this case early does not refer to precocious. tmpaxzxjjyw_mondo_relaxed.owl Early onset of sexual maturation UMLS:C4022392 doelkens 2010-05-04T10:35:02Z human_phenotype owl:Class MONDO:0019483 biolink:NamedThing methotrexate-associated lymphoproliferative disorders Methotrexate-associated lymphoproliferative disorders are rare immunodeficiency-associated lymphoproliferative diseases characterized by lymphoid proliferation or lymphomas (large B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, reactive lymphadenitis and a polymorphic post-transplant lymphoproliferative disorder) that develop in patients with different autoimmune diseases treated with methotrexate. Swelling is the predominant manifestation of the disease and regression after methotrexate withdrawal is observed in a significant proportion of patients. tmpaxzxjjyw_mondo_relaxed.owl MTX-LPD|methotrexate-associated lymphoproliferative disorder|methotrexate-associated lymphoproliferation|MTX-associated lymphoproliferative disorders Orphanet:86904|UMLS:CN206264|DOID:5821|UMLS:C1334749|NCIT:C7184 owl:Class GO:0002829 biolink:NamedThing negative regulation of type 2 immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of a type 2 immune response. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of Th2 immune response|negative regulation of T-helper 2 type immune response|down-regulation of type 2 immune response|inhibition of type 2 immune response|down regulation of type 2 immune response|downregulation of type 2 immune response owl:Class GO:0002828 biolink:NamedThing regulation of type 2 immune response Any process that modulates the frequency, rate, or extent of a type 2 immune response. tmpaxzxjjyw_mondo_relaxed.owl regulation of T-helper 2 type immune response|regulation of Th2 immune response owl:Class MONDO:0001301 biolink:NamedThing rumination disorder Rumination disorder is the backward flow of recently eaten food from the stomach to the mouth. The food is then re-chewed and swallowed or spat out. A non-purposeful contraction of stomach muscles is involved in rumination. It may be initially triggered by a viral illness, emotional distress, or physical injury. In many cases, no underlying trigger is identified. Behavioral therapy is the mainstay of treatment. tmpaxzxjjyw_mondo_relaxed.owl psychogenic rumination|rumination syndrome|rumination ICD9:307.53|NCIT:C92567|MESH:D019959|DOID:11507|SCTID:192014006|GARD:0007594 https://rarediseases.info.nih.gov/diseases/7594/rumination-disorder owl:Class MONDO:0006659 biolink:NamedThing arteriosclerosis obliterans Common occlusive arterial disease which is caused by atherosclerosis. It is characterized by lesions in the innermost layer (arterial intima) of arteries including the aorta and its branches to the extremities. Risk factors include smoking, hyperlipidemia, and hypertension. tmpaxzxjjyw_mondo_relaxed.owl arteriosclerosis obliterans (disorder) [ambiguous] MESH:D001162|UMLS:C0003851|DOID:5160|MedDRA:10065418|SCTID:361133006|ICD9:440.8|EFO:1000820 owl:Class MONDO:0044684 biolink:NamedThing tuberculous meningitis tmpaxzxjjyw_mondo_relaxed.owl tubercular meningitis|TBM SCTID:58437007|Orphanet:499004 owl:Class MONDO:0013483 biolink:NamedThing obesity, hyperphagia, and developmental delay tmpaxzxjjyw_mondo_relaxed.owl obesity, hyperphagia, and developmental delay|OBHD UMLS:C3151303|OMIM:613886|MESH:C563938 owl:Class HGNC:9591 biolink:NamedThing PTGDR tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0012828 biolink:NamedThing Severe Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. tmpaxzxjjyw_mondo_relaxed.owl Severe SNOMEDCT_US:24484000|UMLS:C0205082 PATO:0000396, severe. peter 2014-06-06T07:03:17Z human_phenotype owl:Class MONDO:0030029 biolink:NamedThing skeletal dysplasia, mild, with joint laxity and advanced bone age tmpaxzxjjyw_mondo_relaxed.owl SDJLABA|SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE|skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870 owl:Class HP:0000759 biolink:NamedThing Abnormal peripheral nervous system morphology A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). tmpaxzxjjyw_mondo_relaxed.owl Peripheral nervous system disease|Abnormal peripheral nervous system structure UMLS:C0031117|SNOMEDCT_US:302226006|UMLS:C4025831|MSH:D010523|SNOMEDCT_US:42658009 The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves. HP:0003483 human_phenotype owl:Class GO:0002534 biolink:NamedThing cytokine production involved in inflammatory response The synthesis or release of a cytokine following a inflammatory stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. tmpaxzxjjyw_mondo_relaxed.owl cytokine production involved in acute inflammatory response owl:Class GO:0032223 biolink:NamedThing negative regulation of synaptic transmission, cholinergic Any process that stops, prevents, or reduces the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of synaptic transmission, cholinergic|inhibition of synaptic transmission, cholinergic|downregulation of synaptic transmission, cholinergic|down regulation of synaptic transmission, cholinergic owl:Class GO:1900046 biolink:NamedThing regulation of hemostasis Any process that modulates the frequency, rate or extent of hemostasis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003858 biolink:NamedThing lower eyelid mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021052 biolink:NamedThing parasympathetic paraganglioma A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas. tmpaxzxjjyw_mondo_relaxed.owl parasympathetic Paraganglionic neoplasm|paraganglioma of parasympathetic nervous system|parasympathetic nervous system paraganglioma|parasympathetic paraganglioma|parasympathetic Extra-adrenal paraganglioma NCIT:C4217|UMLS:C0334416|ICDO:8682/1 owl:Class MONDO:0017738 biolink:NamedThing lysosomal glycogen storage disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203642|ICD10:E74.0|Orphanet:309337 owl:Class MONDO:0006612 biolink:NamedThing steroid lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the face, upper middle back, and sternal region. It is associated with adrenocortical steroid therapy or an increase in endogenous adrenocortical hormone. tmpaxzxjjyw_mondo_relaxed.owl steroid lipomatosis UMLS:C1336506|NCIT:C27487|DOID:3925|EFO:1000769 owl:Class MONDO:0017074 biolink:NamedThing cervicothoracic spina bifida cystica tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268766 owl:Class MONDO:0001293 biolink:NamedThing subglottis cancer A malignant neoplasm that affects the subglottic area of the larynx. The vast majority of cases are squamous cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl malignant subglottis neoplasm|cancer of subglottis|malignant subglottic tumor|Ca larynx - subglottis|malignant tumor of subglottis|malignant tumor of the subglottis|malignant neoplasm of the subglottis|malignant subglottic neoplasm|subglottis cancer|malignant neoplasm of subglottis|malignant subglottis tumor NCIT:C3546|ICD9:161.2|DOID:11472|UMLS:C0153485|ICD10:C32.2|SCTID:363430007 owl:Class UBERON:0012140 biolink:NamedThing digitopodium region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007528 biolink:NamedThing Ehlers-Danlos syndrome, autosomal dominant, type unspecified tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, Friedman-Harrod type|Ehlers-Danlos syndrome, autosomal dominant, type unspecified|EDS, unspecified type OMIM:130090|UMLS:C0220679|MESH:C562424 owl:Class UBERON:0011826 biolink:NamedThing vestibular gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006525 biolink:NamedThing allergic contact dermatitis An inflammatory skin condition caused by an immune response to direct contact between the skin and an allergen. It consists of a delayed type of allergic reaction at the affected site with resulting red, swollen, and blistered skin that may itch or leak. tmpaxzxjjyw_mondo_relaxed.owl allergic form of contact dermatitis|allergic contact dermatitis ICD10:L23.9|DOID:3042|ICD9:692.9|EFO:1000668|NCIT:C26998|ICD10:L23|UMLS:C0162820|SCTID:238575004|MESH:D017449 owl:Class MONDO:0004120 biolink:NamedThing Bartholin gland small cell carcinoma A rare neuroendocrine carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant small cells and high mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl Bartholin gland small cell carcinoma|Bartholin's gland small cell carcinoma|small cell carcinoma of major vestibular gland|major vestibular gland small cell carcinoma DOID:7140|NCIT:C40298|UMLS:C1511051 owl:Class HGNC:32550 biolink:NamedThing ZBTB42 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016321 biolink:NamedThing female meiosis chromosome segregation The cell cycle process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets during the meiotic cell cycle in a female. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002442 biolink:NamedThing long QT syndrome A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are Romano-Ward syndrome (also known as long QT syndrome 1) and Jervell-Lange Nielsen syndrome. tmpaxzxjjyw_mondo_relaxed.owl long Q-T syndrome|LQT|long QT syndrome|ventricular arrhythmia associated with long QT syndrome UMLS:C0035828|NCIT:C34786|Orphanet:101016|NCIT:C85049|ICD10:I45.81|MESH:D008133|Orphanet:768|ICD9:426.82|UMLS:C0023976|SCTID:20852007|DOID:2843 owl:Class GO:1902679 biolink:NamedThing negative regulation of RNA biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of RNA biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl downregulation of RNA anabolism|negative regulation of RNA formation|downregulation of RNA formation|negative regulation of RNA synthesis|downregulation of RNA synthesis|inhibition of RNA synthesis|down regulation of RNA anabolism|down regulation of RNA formation|down-regulation of RNA formation|inhibition of RNA biosynthesis|inhibition of RNA formation|negative regulation of RNA anabolism|down-regulation of RNA biosynthesis|down regulation of RNA biosynthesis|down-regulation of RNA biosynthetic process|down regulation of RNA synthesis|downregulation of RNA biosynthetic process|negative regulation of RNA biosynthesis|inhibition of RNA biosynthetic process|down regulation of RNA biosynthetic process|down-regulation of RNA synthesis|downregulation of RNA biosynthesis|down-regulation of RNA anabolism|inhibition of RNA anabolism owl:Class MONDO:0007545 biolink:NamedThing Eosinophilopenia tmpaxzxjjyw_mondo_relaxed.owl Eosinophilopenia|eosinophil aplasia UMLS:C1851586|OMIM:131430 owl:Class MONDO:0011169 biolink:NamedThing keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma (KLICK) syndrome is an inherited epidermal disorder characterized by palmoplantar keratoderma, linear hyperkeratotic papules on the flexural side of large joints (cord-like distribution around wrists, in antecubital and popliteal folds), hyperkeratotic plaques (on neck, axillae, elbows, wrists, and knees), mild ichthyosiform scaling, and sclerotic constrictions around fingers that present flexural deformities. tmpaxzxjjyw_mondo_relaxed.owl keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome|keratosis linearis with ichthyosis congenita and sclerosing keratoderma|Klick syndrome|KLICK|KLICK syndrome ICD10:Q82.8|MESH:C566600|OMIM:601952|SCTID:763775000|Orphanet:281201|UMLS:C1866029 owl:Class MONDO:0100205 biolink:NamedThing parainfluenza virus type 4 infectious disease A disease caused by infection with parainfluenza virus type 4. tmpaxzxjjyw_mondo_relaxed.owl infection caused by parainfluenza virus 4|infection due to human parainfluenza virus 4|human rubulavirus 4 infectious disease|infection due to parainfluenza virus 4|infection caused by human parainfluenza virus 4 OMOP:4288743 Note - this is purposely unaxiomitized because it does not align with NCBI taxonomy. http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2063 owl:Class UBERON:0019143 biolink:NamedThing intramuscular adipose tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005430 biolink:NamedThing early onset hypertension A form of hypertension with early onset relative to normal range for a given population. tmpaxzxjjyw_mondo_relaxed.owl EFO:0004772 owl:Class NCBITaxon:181088 biolink:NamedThing Haemaphysalis flava tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:34622 biolink:NamedThing Haemaphysalis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006882 biolink:NamedThing orchitis Inflammation of one or both testes due to viral or bacterial infections. Signs and symptoms include enlargement or tenderness of the affected testis, inguinal lymphadenopathy, blood in the semen, and pain during urination, intercourse, or ejaculation. tmpaxzxjjyw_mondo_relaxed.owl testis inflammation|orchitis|testisitis|Orchititis|inflammation of testis|Inflammation of testis|orchitis (disease) orchitis (disease) EFO:1001078|SCTID:274718005|ICD10:N45.2|UMLS:C0029191|NCIT:C97145|MedDRA:10031064|HP:0100796|DOID:2518|MESH:D009920 owl:Class GO:0033006 biolink:NamedThing regulation of mast cell activation involved in immune response Any process that modulates the frequency, rate, or extent of mast cell activation as part of an immune response. tmpaxzxjjyw_mondo_relaxed.owl regulation of mast cell activation during immune response owl:Class MONDO:0015612 biolink:NamedThing Dent disease Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction. tmpaxzxjjyw_mondo_relaxed.owl renal Fanconi syndrome with nephrocalcinosis and renal stones|Dent disease 2|X-linked recessive hypophosphatemic rickets|low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis|Dent syndrome|X-linked recessive nephrolithiasis|Dent's disease|Dent disease 1|Dents disease|X-linked recessive hypercalciuric hypophosphatemic rickets OMIM:310468|NCIT:C123260|UMLS:CN239269|DOID:0050699|MESH:D057973|SCTID:444645005|OMIM:300555|OMIM:300009|UMLS:C1845167|GARD:0013105|OMIMPS:300009|OMIM:308990|UMLS:C0878681|MedDRA:10069199|ICD10:N25.8|OMIM:300554|Orphanet:1652 owl:Class CL:0009030 biolink:NamedThing enteroendocrine cell of appendix An intestinal enteroendocrine cell that is located in a vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl enteroendocrine cell of vermiform appendix|enteroendocrine cell of appendix vermiformis|appendix enteroendocrine cell owl:Class CL:1001516 biolink:NamedThing intestinal enteroendocrine cell The various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the intestinal tract. tmpaxzxjjyw_mondo_relaxed.owl cl owl:Class HP:0006530 biolink:NamedThing Abnormal pulmonary interstitial morphology Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. tmpaxzxjjyw_mondo_relaxed.owl Abnormal lung parenchyma morphology|Abnormality in area between air sacs in lung|Interstitial pulmonary disease|Interstitial lung disease MSH:D017563|UMLS:C0206062|SNOMEDCT_US:233703007 HP:0006513|HP:0006547 human_phenotype owl:Class MONDO:0004702 biolink:NamedThing uterine cervix leukoplakia The presence of whitish patches on the mucosal surface of the cervix. Histologic examination reveals hyperkeratosis. In a minority of cases, underlying dysplasia or carcinoma in situ is present. tmpaxzxjjyw_mondo_relaxed.owl leukoplakia of the cervix|leukoplakia of the cervix uteri|leukoplakia of the uterine cervix|leukoplakia of cervix uteri|leukoplakia of uterine cervix|cervical leukoplakia|cervix uteri leukoplakia|leukoplakia of cervix|cervix leukoplakia|leukoplakia of cervix (uteri) SCTID:50923006|NCIT:C3976|DOID:9043|UMLS:C0269194|ICD10:N88.0|ICD9:622.2 owl:Class MONDO:0043243 biolink:NamedThing leukoplakia A white patch or plaque on a mucous membrane that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition. tmpaxzxjjyw_mondo_relaxed.owl keratotic plaque|lesions, leukoplakic|leukokeratoses|leukoplakia|leukokeratosis|lesion, leukoplakic|leukoplakic lesions|leukoplakias|leukoplakic lesion SCTID:274134003|NCIT:C3186|GARD:0006897|MESH:D007971|UMLS:C0023531 owl:Class CL:1001052 biolink:NamedThing kidney cortex vein cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001084 cell owl:Class CL:1000893 biolink:NamedThing kidney venous blood vessel cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001031 cell owl:Class MONDO:0008883 biolink:NamedThing brachydactyly, type A2, with microcephaly tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, type A2, with microcephaly UMLS:C1859393|MESH:C565894|OMIM:211369 owl:Class NCBITaxon:33183 biolink:NamedThing Onygenales tmpaxzxjjyw_mondo_relaxed.owl Gymnoascales|Ascosphaerales|Arachnomycetales GC_ID:1|PMID:17486980 NCBITaxon:36053|NCBITaxon:5102|NCBITaxon:259362 ncbi_taxonomy owl:Class CHEBI:76823 biolink:NamedThing EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of any acid-ammonia (or amine) ligase (EC 6.3.1.*). tmpaxzxjjyw_mondo_relaxed.owl acid-ammonia (or amine) ligase inhibitor|EC 6.3.1.* inhibitor|EC 6.3.1.* inhibitors|acid-ammonia (or amine) ligase inhibitors|EC 6.3.1.* (acid-ammonia/amine ligase) inhibitors owl:Class CHEBI:75600 biolink:NamedThing EC 6.3.* (C-N bond-forming ligase) inhibitor A ligase inhibitor that interferes with the action of a C-N bond-forming ligase (EC 6.3.*.*). tmpaxzxjjyw_mondo_relaxed.owl EC 6.3.*.* inhibitors|EC 6.3.* inhibitors|C-N bond-forming ligase inhibitors|C-N bond-forming ligase (EC 6.3.*) inhibitor|C-N bond-forming ligase inhibitor|C--N bond-forming ligase inhibitor|C--N bond-forming ligase inhibitors|EC 6.3.*.* inhibitor|C-N bond-forming ligase (EC 6.3.*) inhibitors|EC 6.3.* inhibitor|EC 6.3.* (C-N bond-forming ligase) inhibitorS owl:Class MONDO:0010751 biolink:NamedThing unique green phenomenon tmpaxzxjjyw_mondo_relaxed.owl unique green phenomenon OMIM:314380|UMLS:C1839116 owl:Class GO:0010912 biolink:NamedThing positive regulation of isomerase activity Any process that increases the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010911 biolink:NamedThing regulation of isomerase activity Any process that modulates the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020374 biolink:NamedThing cerulean cataract Cerulean cataract is a type of hereditary congenital cataract distinguished by bluish and white opacifications in the superficial layers of the fetal lens nucleus and adult lens nucleus and characterized by reduced visual acuity in childhood, eventually necessitating extraction of the lens. tmpaxzxjjyw_mondo_relaxed.owl blue-dot cataract|cataract, congenital, cerulean type 1|cataract, congenital, blue dot type 1 ICD10:Q12.0|SCTID:204138006|OMIM:614422|ICD9:743.39|OMIM:115660|MESH:C537955|Orphanet:98989|GARD:0009508 owl:Class MONDO:0018114 biolink:NamedThing isolated brachycephaly Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic bicoronal synostosis ICD10:Q75.0|Orphanet:35099|OMIM:615314|OMIM:123100|OMIM:616602 owl:Class HGNC:251 biolink:NamedThing ADH1C tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011597 biolink:NamedThing bone of upper jaw tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012222 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency type 2 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency with the features of angiokeratoma corporis diffusum and mild sensory neuropathy. tmpaxzxjjyw_mondo_relaxed.owl Schindler disease type 2|NAGA deficiency type 2|Alpha-N-acetylgalactosaminidase deficiency, type 2|KANZAKI disease|Naga deficiency, type 2|Alpha-N-acetylgalactosaminidase deficiency, adult-onset|Schindler disease, type 2|adult-onset Alpha-N-acetylgalactosaminidase deficiency|Kanzaki disease|Alpha-N-acetylgalactosaminidase deficiency adult onset Orphanet:79280|Orphanet:3137|ICD10:E77.1|GARD:0009161|OMIM:609242|UMLS:C1836522 owl:Class MONDO:0012320 biolink:NamedThing migraine, familial hemiplegic, 3 Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene. tmpaxzxjjyw_mondo_relaxed.owl SCN1A familial or sporadic hemiplegic migraine|familial or sporadic hemiplegic migraine caused by mutation in SCN1A|migraine, familial hemiplegic, type 3|FHM3|migraine, familial hemiplegic, 3 Orphanet:569|DOID:0111183|MESH:C566500|OMIM:609634|GARD:0010974|UMLS:C1864987 owl:Class UBERON:0005024 biolink:NamedThing mucosa of soft palate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005019 biolink:NamedThing mucosa of palate tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:02500026 biolink:NamedThing anthropogenic modulatory intervention process A process during which humans apply technology to alter the magnitude, duration, rate, or impact of an environmental process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBI:0000011 biolink:NamedThing planned process A processual entity that realizes a plan which is the concretization of a plan specification.|A process that realizes a plan which is the concretization of a plan specification. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043129 biolink:NamedThing surfactant homeostasis Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000546 biolink:NamedThing kidney medulla collecting duct epithelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001060 cell owl:Class MONDO:0034092 biolink:NamedThing optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:543470 owl:Class MONDO:0012946 biolink:NamedThing intellectual disability, autosomal dominant 3 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal dominant 3|autosomal dominant non-syndromic intellectual disability 3|mental retardation, autosomal dominant 3|MRD3|autosomal dominant mental retardation 3|autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15|mental retardation, autosomal dominant type 3|CDH15 autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 3|intellectual disability, autosomal dominant type 3 OMIM:612580|Orphanet:178469|MESH:C567241|UMLS:C2675488|DOID:0070033 owl:Class MONDO:0004144 biolink:NamedThing fibrous meningioma A WHO grade I meningioma characterized by the presence of spindle cells that form bundles in a collagen matrix. tmpaxzxjjyw_mondo_relaxed.owl fibroblastic meningioma|fibrous meningioma (morphologic abnormality) NCIT:C4330|ICDO:9532/0|EFO:1000258|DOID:7211|MESH:D008579|UMLS:C0334606 owl:Class MONDO:0007316 biolink:NamedThing Chiari malformation type I Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic. tmpaxzxjjyw_mondo_relaxed.owl Cm1|Cm1 with syringomyelia|Chiari malformation type 1 with syringomyelia|Arnold-Chiari malformation type 1|Chiari malformation type 1|Arnold-Chiari malformation type I|Chiari malformation type I SCTID:253185002|ICD10:G95.0|OMIM:118420|MedDRA:10056944|Orphanet:268882 owl:Class MONDO:0020430 biolink:NamedThing cor triatriatum sinister Cor triatriatum sinister (CTS) results when the left atrium is divided into two compartments by a membrane. The membrane can vary in size and shape and may have one or more openings. Severe cases of cor triatriatum sinister usually present in infancy and are often associated with other heart defects. In less severe cases, the diagnosis may not be made until later in life. The specific symptoms depend on the degree to which the membrane obstructs the flow of blood and whether or not there are additional heart defects. Symptoms may range from mild shortness of breath during exercise to signs of heart failure and lung congestion. Some people with CTS may not have symptoms. Treatment varies according to the severity of the symptoms. For symptomatic patients, surgery is generally consideredthe definitive course of therapy. tmpaxzxjjyw_mondo_relaxed.owl divided left atrium|cor triatriatum sinistrum ICD10:Q24.2|SCTID:253353007|ICD9:746.89|GARD:0012484|Orphanet:99099 https://rarediseases.info.nih.gov/diseases/12484/cor-triatriatum-sinister owl:Class MONDO:0015450 biolink:NamedThing triatrial heart A rare congenital abnormality of the heart characterized by the presence of three atria. The right or left atrium is divided into two parts by fibromuscular tissue or a membrane. It may be associated with other heart congenital abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Cor triatriatum SCTID:55510008|ICD9:746.82|NCIT:C84651|GARD:0006194|ICD10:Q24.2|Orphanet:1463 owl:Class MONDO:0021296 biolink:NamedThing carcinoma in situ of renal pelvis A in situ carcinoma that involves the renal pelvis. tmpaxzxjjyw_mondo_relaxed.owl stage 0is carcinoma of the renal pelvis|stage 0is renal pelvis cancer|stage 0is carcinoma of renal pelvis|carcinoma in situ of the kidney pelvis|carcinoma in situ of the renal pelvis|carcinoma in situ of renal pelvis|stage 0is renal pelvis urothelial carcinoma|stage 0is kidney renal pelvis urothelial cancer|carcinoma in situ of kidney pelvis|renal pelvis in situ carcinoma|stage 0is kidney pelvis carcinoma|stage 0is carcinoma of kidney pelvis|stage 0is carcinoma of the kidney pelvis|stage 0is renal pelvis cancer aJCC v7|stage 0 renal pelvis carcinoma|stage 0is renal pelvis urothelial carcinoma aJCC v7|kidney pelvis carcinoma in situ|renal pelvis carcinoma in situ NCIT:C4597|UMLS:C0347184|SCTID:92697000|ICD9:233.9 owl:Class MONDO:0018101 biolink:NamedThing familial primary hypomagnesemia with normocalciuria and normocalcemia Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E83.4|OMIM:611718|OMIM:613882|UMLS:C4510731|Orphanet:34527|OMIM:616418|UMLS:CN204443|SCTID:725031005 owl:Class MONDO:0019428 biolink:NamedThing fried syndrome Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4305134|ICD10:Q87.8|SCTID:718848000|Orphanet:85335|UMLS:CN206186|OMIM:304340 owl:Class FOODON:03420178 biolink:NamedThing seed part tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100114 biolink:NamedThing dry age related macular degeneration Dry age related macular degeneration is characterized by the presence of age-related deposits called drusen and atrophy. tmpaxzxjjyw_mondo_relaxed.owl dry ARMD|dry AMD MEDDRA:10075567 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:29914 biolink:NamedThing NUP107 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006421 biolink:NamedThing small intestinal tubular adenoma A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1710112|EFO:1000538|NCIT:C43552 owl:Class MONDO:0016198 biolink:NamedThing qualitative or quantitative defects of plectin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209196 owl:Class HGNC:18085 biolink:NamedThing TMEM199 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020809 biolink:NamedThing benign sertoli cell tumor A Sertoli cell tumor of the testis or the ovary which remains localized and does not metastasize to another anatomic site. tmpaxzxjjyw_mondo_relaxed.owl SERTOLI CELL TUMOR, BENIGN|Benign Androblastoma|Benign Sertoli Cell Tumor NCIT:C67012|ICDO:8630/0 owl:Class MONDO:0005819 biolink:NamedThing laryngeal tuberculosis Extrapulmonary tuberculosis involving the larynx. Signs and symptoms include hoarseness, cough, and odynophagia. The condition is rare. tmpaxzxjjyw_mondo_relaxed.owl tuberculous laryngitis|larynx tuberculosis EFO:0007337|ICD9:012.30|ICD10:A15.5|ICD9:012.31|ICD9:012.32|SCTID:70341005|ICD9:012.3|UMLS:C0041315|DOID:1583|NCIT:C26895|MESH:D014387 owl:Class MONDO:0016743 biolink:NamedThing tumor of meninges A benign or malignant neoplasm that affects the meninges. The majority of the neoplasms arise from meningothelial cells and are called meningiomas. Non-meningothelial cell neoplasms include mesenchymal, non-meningothelial tumors, hemangiopericytomas, and melanocytic lesions. tmpaxzxjjyw_mondo_relaxed.owl meningeal neoplasms|meninges tumor|meningeal cluster tumor|meningeal cluster neoplasm|tumor of meninges|neoplasm of meningeal cluster|meningeal tumor|tumor of meningeal cluster|meninges neoplasm|meningothelial tumor|tumor of the meninges|meningeal cluster neoplasm (disease)|meningeal cluster rare nervous system tumor|neoplasm of the meninges|neoplasm of meninges|meningeal neoplasm MedDRA:10061282|NCIT:C3229|UMLS:C0025284|Orphanet:252025|ICD9:239.7|SCTID:126965008|ONCOTREE:MNGT owl:Class PATO:0000498 biolink:NamedThing increased duration A duration quality of a process which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl increased period|prolonged period|slow time|increased time|chronic|high time owl:Class PATO:0001309 biolink:NamedThing duration A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. tmpaxzxjjyw_mondo_relaxed.owl period|time owl:Class GO:2001222 biolink:NamedThing regulation of neuron migration Any process that modulates the frequency, rate or extent of neuron migration. tmpaxzxjjyw_mondo_relaxed.owl regulation of neuron chemotaxis|regulation of neuron guidance|regulation of neuronal migration owl:Class MONDO:0018790 biolink:NamedThing COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy tmpaxzxjjyw_mondo_relaxed.owl COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy 2022-03-01 UMLS:CN776855|Orphanet:477765 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease' MONDO_0018788 owl:Class MONDO:0018788 biolink:NamedThing COL4A1 or COL4A2-related cerebral small vessel disease tmpaxzxjjyw_mondo_relaxed.owl COL4A1 or COL4A2-related cerebral angiopathy UMLS:CN776854|Orphanet:477759 owl:Class MONDO:0003393 biolink:NamedThing thymus gland disorder A non-neoplastic or neoplastic disorder that affects the thymus. Representative examples include thymic hyperplasia, thymoma, and thymic carcinoma. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of thymus|disorder of thymus gland|disease of thymus gland|disease of thymus|thymus disorder|Thymus disorder|thymus disease or disorder|thymus disease|disorder of thymus ICD10:E32.9|ICD9:254|SCTID:20673009|ICD9:254.9|UMLS:C0154199|NCIT:C26962|ICD10:E32|DOID:533 owl:Class MONDO:0042973 biolink:NamedThing familial osteosclerosis An instance of osteosclerosis that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary osteosclerosis GARD:0004174 owl:Class CHEBI:47788 biolink:NamedThing 3-oxo steroid Any oxo steroid where an oxo substituent is located at position 3. tmpaxzxjjyw_mondo_relaxed.owl a 3-oxosteroid|3-oxosteroids|3-oxo steroids|3-Oxosteroid owl:Class NCBITaxon:188544 biolink:NamedThing Demodex tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:188543 biolink:NamedThing Demodicidae tmpaxzxjjyw_mondo_relaxed.owl follicle mites GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003470 biolink:NamedThing cellular ependymoma An ependymoma which shows conspicuous cellularity without a significant increase in mitotic rate. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl MESH:D004806|NCIT:C4713|DOID:5500|NCIT:C4714|UMLS:C1384403 owl:Class MONDO:0017685 biolink:NamedThing vitamin B12-responsive methylmalonic acidemia, type cblDv2 tmpaxzxjjyw_mondo_relaxed.owl vitamin B12-responsive methylmalonic aciduria, type cblDv2 UMLS:CN203582|Orphanet:308442|ICD10:E71.1|OMIM:277410 owl:Class HGNC:23658 biolink:NamedThing DELEC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007724 biolink:NamedThing hirsutism-skeletal dysplasia-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl Wiedemann Oldigs Oppermann syndrome|hirsutism skeletal dysplasia mental retardation syndrome|hirsutism, skeletal dysplasia, and mental retardation|Wiedemann-Oldigs-Oppermann syndrome|hirsutism, skeletal dysplasia, and intellectual disability|hirsutism skeletal dysplasia intellectual disability syndrome UMLS:C0795976|Orphanet:2156|OMIM:142625|ICD10:Q87.8|MESH:C536705|GARD:0005566 owl:Class CHEBI:25195 biolink:NamedThing mercury atom tmpaxzxjjyw_mondo_relaxed.owl liquid silver|mercury|azogue|Hg|80Hg|mercurio|Quecksilber|hydrargyrum|mercure|quicksilver owl:Class MONDO:0001120 biolink:NamedThing chronic frontal sinusitis Inflammation of the frontal sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. tmpaxzxjjyw_mondo_relaxed.owl frontal sinusitis, chronic ICD10:J32.1|SCTID:60130002|NCIT:C34473|ICD9:473.1|UMLS:C0008683|DOID:10790 owl:Class MONDO:0001121 biolink:NamedThing frontal sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the frontal sinus. tmpaxzxjjyw_mondo_relaxed.owl DOID:10791|NCIT:C34626|UMLS:C0016735|SCTID:78737005|ICD10:J32.1|MESH:D015522 owl:Class UBERON:0012487 biolink:NamedThing vaginal sphincter tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045576 biolink:NamedThing mast cell activation The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011214 biolink:NamedThing progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood. tmpaxzxjjyw_mondo_relaxed.owl Mdr3 deficiency|progressive familial intrahepatic cholestasis caused by mutation in ABCB4|cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase|cholestasis, progressive familial intrahepatic, 3|progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase|ABCB4 progressive familial intrahepatic cholestasis|cholestasis, progressive familial intrahepatic, type 3|PFIC3 Orphanet:79305|UMLS:C1865643|OMIM:602347|MESH:C535935|Orphanet:172|GARD:0001289|DOID:0070223|ICD10:K76.8 https://rarediseases.info.nih.gov/diseases/1289/progressive-familial-intrahepatic-cholestasis-type-3 owl:Class MONDO:0032796 biolink:NamedThing hyper-IgE recurrent infection syndrome 4, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl HIES4|HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE OMIM:618523|DOID:0080596 owl:Class GO:0006903 biolink:NamedThing vesicle targeting The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002139 biolink:NamedThing endothelial cell of vascular tree An endothelial cell of the vascular tree, which includes blood vessels and lymphatic vessels. tmpaxzxjjyw_mondo_relaxed.owl vascular endothelial cell|cubodial endothelial cell of vascular tree BTO:0001854|FMA:67755|CALOHA:TS-1106 These cells are reportedly CD31-positive, CD34-positive, CD144-positive, TAL1-positive. tmeehan 2010-08-24T02:06:40Z cell owl:Class MONDO:0009855 biolink:NamedThing d-bifunctional protein deficiency A genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease. tmpaxzxjjyw_mondo_relaxed.owl d-bifunctional protein deficiency|peroxisomal multifunctional enzyme deficiency|17-beta-hydroxysteroid dehydrogenase 4 deficiency|HSD17B4 deficiency|D-bifunctional enzyme deficiency|Pbfe deficiency|17-beta-hydroxysteroid dehydrogenase IV deficiency|peroxisomal multifunctional enzyme (MFE2) deficiency|peroxisomal bifunctional enzyme deficiency|pseudo-Zellweger syndrome|multifunctional enzyme deficiency|bifunctional enzyme deficiency|DBP deficiency UMLS:C0342870|GARD:0004539|ICD9:277.6|OMIM:261515|ICD10:E71.3|DOID:0090031|NCIT:C119676|UMLS:C1533628|SCTID:238068007|Orphanet:300|UMLS:CN203333 https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/4539/d-bifunctional-protein-deficiency owl:Class MONDO:0009921 biolink:NamedThing holoprosencephaly-postaxial polydactyly syndrome Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. tmpaxzxjjyw_mondo_relaxed.owl holoprosencephaly polydactyly syndrome|Young-Maders syndrome|pseudo trisomy 13 syndrome|holoprosencephaly-polydactyly syndrome|PSEUDOTRISOMY 13 syndrome|pseudo-trisomy 13 syndrome UMLS:C1849649|OMIM:264480|Orphanet:2166|NCIT:C125418|MESH:C535829|SCTID:716091000|GARD:0000344|ICD10:Q87.8 owl:Class OBO:CARO_0030000 biolink:NamedThing biological entity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011129 biolink:NamedThing glaucoma type 1C tmpaxzxjjyw_mondo_relaxed.owl glaucoma 1, primary open angle, C|GLC1C OMIM:601682|GARD:0002484|UMLS:C1866483 https://rarediseases.info.nih.gov/diseases/2484/glaucoma-type-1c owl:Class HGNC:29277 biolink:NamedThing ZNF687 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:24745 biolink:NamedThing hydroxypyridine Any member of the class of pyridines with at least one hydroxy substituent. tmpaxzxjjyw_mondo_relaxed.owl hydroxypyridines owl:Class MONDO:0012071 biolink:NamedThing congenital generalized lipodystrophy type 1 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene. tmpaxzxjjyw_mondo_relaxed.owl CGL1|congenital generalized lipodystrophy type 1|Berardinelli-Seip congenital lipodystrophy, type 1|Berardinelli-Seip congenital lipodystrophy type 1|Brunzell syndrome, Agpat2-related|lipodystrophy, Berardinelli-Seip congenital, type 1|AGPAT2 congenital generalized lipodystrophy (disease)|Brunzell syndrome AGPAT2-related|lipodystrophy, congenital generalized, type 1|AGPAT2-related Brunzell syndrome|congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2|BSCL1 DOID:0111135|ICD10:E88.1|Orphanet:528|OMIM:608594|GARD:0000084 owl:Class MONDO:0018883 biolink:NamedThing Berardinelli-Seip congenital lipodystrophy A lipodystrophy characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance. tmpaxzxjjyw_mondo_relaxed.owl BSCL|Berardinelli Seip syndrome|congenital Generalized lipodystrophy|lipoatrophic diabetes|Seip-Bernardinelli syndrome|Berardinelli lipodystrophy syndrome|GCL|Brunzell syndrome|Beradinelli-Seip syndrome|Lawrence-Seip syndrome|generalized congenital lipodystrophy|total lipodystrophy ICD10:E88.1|NCIT:C84594|Orphanet:528|OMIM:608594|ICD9:250.80|OMIM:612526|OMIM:269700|MedDRA:10024603 owl:Class MONDO:0013456 biolink:NamedThing constitutional megaloblastic anemia with severe neurologic disease tmpaxzxjjyw_mondo_relaxed.owl dihydrofolate reductase deficiency|DHFR deficiency|megaloblastic anemia due to dihydrofolate reductase deficiency OMIM:613839|ICD10:D52.8|SCTID:124178006|MESH:C565095|Orphanet:319651|GARD:0011000 owl:Class MONDO:0008952 biolink:NamedThing cerebrofaciothoracic dysplasia Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities. tmpaxzxjjyw_mondo_relaxed.owl CFSMR|cerebrofaciothoracic dysplasia|craniofacial dysmorphism, skeletal anomalies, and intellectual disability syndrome|cerebro facio thoracic dysplasia|pascual-Castroviejo syndrome type 1|craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome|pascual-Castroviejo syndrome OMIM:213980|SCTID:720635002|MESH:C565862|Orphanet:1394|GARD:0001210|ICD10:Q87.5 https://rarediseases.info.nih.gov/diseases/1210/cerebro-facio-thoracic-dysplasia owl:Class MONDO:0004770 biolink:NamedThing exophthalmos The anterior displacement of the eye within the orbit, giving a bulging appearance. tmpaxzxjjyw_mondo_relaxed.owl proptosis|exophthalmos (disease)|exophthalmos exophthalmos (disease) ICD9:376.30|HP:0000520|UMLS:C0015300|SCTID:18265008|NCIT:C87114|MESH:D005094|NCIT:C118763|DOID:9370|ICD10:H05.20 owl:Class MONDO:0008486 biolink:NamedThing steatocystoma multiplex-natal teeth syndrome The syndrome steatocystoma multiplex and natal teeth is characterized by generalized multiple steatocystomas and natal teeth. tmpaxzxjjyw_mondo_relaxed.owl STEATOCYSTOMA multiplex with NATAL teeth|Natal teeth and steatocystoma multiplex Orphanet:3184|UMLS:C1866650|ICD10:L72.2|MESH:C537487|OMIM:184510|GARD:0005004 owl:Class PATO:0002444 biolink:NamedThing mineralized A composition quality inhering in a bearer by virtue of the bearer's being composed of or possessing inorganic material. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0000970 biolink:NamedThing permeability A structural quality inhering in a bearer by virtue of the bearer's disposition to being permeated or pervaded by a gas or liquid (as by osmosis or diffusion). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008335 biolink:NamedThing short stature-craniofacial anomalies-genital hypoplasia syndrome Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p. tmpaxzxjjyw_mondo_relaxed.owl Haspeslagh syndrome|Haspeslagh-Fryns-Muelenaere syndrome|pterygia, intellectual disability, and distinctive craniofacial features|pterygia, mental retardation and distinctive craniofacial features|pterygia mental retardation facial dysmorphism|pterygia intellectual disability facial dysmorphism|pterygia, intellectual disability and distinctive craniofacial features|pterygia, mental retardation, and distinctive craniofacial features SCTID:716090004|ICD10:Q87.8|Orphanet:2994|OMIM:177980|UMLS:C1867443|GARD:0002605|MESH:C535844 owl:Class CL:1000453 biolink:NamedThing epithelial cell of intermediate tubule An epithelial cell that is part of the intermediate tubule. tmpaxzxjjyw_mondo_relaxed.owl FMA:70980 cell owl:Class MONDO:0011454 biolink:NamedThing patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl patent arterial duct-bicuspid aortic valve-hand anomalies syndrome|patent ductus arteriosus and bicuspid aortic valve with hand anomalies OMIM:604381|ICD10:Q87.2|MESH:C565782|Orphanet:228190|UMLS:C1858420 owl:Class MONDO:0044701 biolink:NamedThing childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder tmpaxzxjjyw_mondo_relaxed.owl CONDBA|neurodegeneration, childhood-onset, with brain atrophy|UBTF-related disorder Orphanet:500180|UMLS:CN469330|OMIM:617672 owl:Class CHEBI:57756 biolink:NamedThing sphingosine(1+) The cationic sphingoid resulting from the protonation of the amino group of sphingosine. tmpaxzxjjyw_mondo_relaxed.owl sphing-4-enine|(2S,3R,4E)-1,3-dihydroxyoctadec-4-en-2-aminium owl:Class CHEBI:84410 biolink:NamedThing sphingoid base(1+) A cationic sphingoid obtained by protonation of the amino group of any 2-amino-1,3-dihydroxysphingoid base. tmpaxzxjjyw_mondo_relaxed.owl 2-amino-1,3-dihydroxysphingoid base(1+)|a sphingoid base owl:Class MONDO:0014289 biolink:NamedThing macrocephaly-developmental delay syndrome Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal recessive 41|intellectual disability, autosomal recessive type 41|mental retardation, autosomal recessive type 41|MRT41|mental retardation, autosomal recessive 41 Orphanet:397612|UMLS:C3810225|OMIM:615637|ICD10:Q75.3 owl:Class MONDO:0014863 biolink:NamedThing macrocephaly, dysmorphic facies, and psychomotor retardation tmpaxzxjjyw_mondo_relaxed.owl MDFPMR|macrocephaly, dysmorphic facies, and psychomotor retardation; MDFPMR|macrocephaly, dysmorphic facies, and psychomotor retardation UMLS:C4310766|OMIM:617011 owl:Class MONDO:0033366 biolink:NamedThing developmental and epileptic encephalopathy, 57 tmpaxzxjjyw_mondo_relaxed.owl DEE57|EIEE57|epileptic encephalopathy, early infantile, 57|infantile epileptic encephalopathy 57 UMLS:CN633295|DOID:0080284|OMIM:617771 owl:Class UBERON:0006675 biolink:NamedThing venous valve tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0100886 biolink:NamedThing Abnormality of globe location An abnormality in the placement of the ocular globe (eyeball). tmpaxzxjjyw_mondo_relaxed.owl Abnormality of eyeball location|Abnormality of eyeball position|Abnormality of globe position UMLS:C4021946 doelkens 2011-12-13T04:25:29Z human_phenotype owl:Class MONDO:0019417 biolink:NamedThing X-linked intellectual disability-precocious puberty-obesity syndrome X-linked intellectual disability-precocious puberty-obesity syndrome is characterised by moderate intellectual deficit and precocious puberty. It has been described in three males from two generations of one Australian family. Morbid obesity was noted in the mothers of the patients. Transmission is X-linked. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.8|Orphanet:85318|UMLS:CN227629 owl:Class MONDO:0017461 biolink:NamedThing familial isolated clinodactyly of fingers Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging. tmpaxzxjjyw_mondo_relaxed.owl SCTID:763691008|Orphanet:295014|ICD10:Q68.1 owl:Class ENVO:01001155 biolink:NamedThing astrogeological gas An astrogeological volatile which is composed primarily of chemical compounds with boiling points around those of hydrogen and helium. tmpaxzxjjyw_mondo_relaxed.owl gas owl:Class UBERON:0009889 biolink:NamedThing secondary heart field tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000532 biolink:NamedThing lung combined type small cell adenocarcinoma A lung combined type small cell carcinoma that has material basis in epithelial tissue of glandular origin. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050917 owl:Class MONDO:0019860 biolink:NamedThing thyroid hemiagenesis Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023190|SCTID:715734006|Orphanet:95719|OMIM:218700|ICD10:E03.1 owl:Class HGNC:7974 biolink:NamedThing NR2E3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007578 biolink:NamedThing esterase B tmpaxzxjjyw_mondo_relaxed.owl ESB|esterase B|esterase type B OMIM:133260 Editor note: consider obsoleting owl:Class GO:0019208 biolink:NamedThing phosphatase regulator activity Binds to and modulates the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008774 biolink:NamedThing 2-aminoadipic 2-oxoadipic aciduria tmpaxzxjjyw_mondo_relaxed.owl AMOXAD|Ketoadipicaciduria|alpha-aminoadipic aciduria|2-aminoadipic 2-oxoadipic aciduria Orphanet:79154|MESH:C565453|OMIM:245130|DOID:0111453|ICD10:E72.3|UMLS:C1855626|OMIM:204750 owl:Class MONDO:0017351 biolink:NamedThing inborn disorder of lysine and hydroxylysine metabolism tmpaxzxjjyw_mondo_relaxed.owl disorder of lysine and hydroxylysine metabolism SCTID:237929000|Orphanet:289832|ICD9:270.8|ICD10:E72.3|ICD9:270.7 owl:Class GO:0004485 biolink:NamedThing methylcrotonoyl-CoA carboxylase activity Catalysis of the reaction: 3-methylbut-2-enoyl-CoA + ATP + bicarbonate = trans-3-methylglutaconyl-CoA + ADP + 2 H(+) + phosphate. tmpaxzxjjyw_mondo_relaxed.owl 3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)|beta-methylcrotonyl-CoA carboxylase activity|beta-methylcrotonyl coenzyme A carboxylase activity|methylcrotonyl-CoA carboxylase activity|beta-methylcrotonyl CoA carboxylase activity|MCCC activity|methylcrotonyl coenzyme A carboxylase activity owl:Class GO:0016421 biolink:NamedThing CoA carboxylase activity Catalysis of the joining of a carboxyl group to a molecule that is attached to CoA, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13201 biolink:NamedThing ADAMTS10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0055086 biolink:NamedThing nucleobase-containing small molecule metabolic process The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. tmpaxzxjjyw_mondo_relaxed.owl nucleobase, nucleoside and nucleotide metabolism|nucleobase, nucleoside and nucleotide metabolic process owl:Class MONDO:0022770 biolink:NamedThing circumscribed cutaneous aplasia of the vertex tmpaxzxjjyw_mondo_relaxed.owl GARD:0001365 https://rarediseases.info.nih.gov/diseases/1365/circumscribed-cutaneous-aplasia-of-the-vertex owl:Class HGNC:16892 biolink:NamedThing CD96 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0033799 biolink:NamedThing Abnormal circulating sex hormone concentration Any deviation from the normal concentration of a sex hormone in the blood circulation tmpaxzxjjyw_mondo_relaxed.owl Abnormal circulating gonadocorticoid concentration|Abnormal circulating gonadal steroid concentration|Abnormal circulating sex steroid concentration 2021-05-09 11:33:30+00:00 Sex hormones are steroid hormones that include the androgens, estrogens, and progestogens. peter human_phenotype owl:Class HP:0003117 biolink:NamedThing Abnormal circulating hormone concentration An abnormal concentration of a hormone in the blood. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of circulating hormone level|Abnormal circulating hormone level UMLS:C4025652 human_phenotype owl:Class MONDO:0004521 biolink:NamedThing adult epithelioid sarcoma An epithelioid sarcoma occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl adult epithelioid sarcoma|epithelioid sarcoma|epithelioid sarcoma of adults UMLS:C0279545|DOID:8282|NCIT:C7944 owl:Class MONDO:0017387 biolink:NamedThing epithelioid sarcoma An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma). tmpaxzxjjyw_mondo_relaxed.owl ES|epithelioid cell sarcoma|epithelioid sarcoma Orphanet:293202|ICD10:C49.9|ONCOTREE:EPIS|MedDRA:10015099|MESH:D012509|ICDO:8804/3|DOID:6193|GARD:0010181|UMLS:C0205944|NCIT:C3714 https://rarediseases.info.nih.gov/diseases/10181/epithelioid-sarcoma owl:Class MONDO:0006301 biolink:NamedThing metanephric adenoma A benign, well-circumscribed renal cortical neoplasm affecting females more often than males. Polycythemia has been reported in twelve-percent of patients. tmpaxzxjjyw_mondo_relaxed.owl metanephric adenoma (morphologic abnormality)|metanephric adenoma UMLS:C1266045|NCIT:C27253|DOID:6404|ICDO:8191/0|ICDO:8325/0|EFO:1000373 owl:Class MONDO:0002881 biolink:NamedThing vaginal adenosarcoma A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component. tmpaxzxjjyw_mondo_relaxed.owl vagina adenosarcoma|vaginal Mullerian adenosarcoma|vaginal adenosarcoma|adenosarcoma of vagina|vaginal Müllerian adenosarcoma UMLS:C1519914|DOID:4117|NCIT:C40277 owl:Class NCBITaxon:11652 biolink:NamedThing Primate lentivirus group tmpaxzxjjyw_mondo_relaxed.owl Primate immunodeficiency viruses GC_ID:1 ncbi_taxonomy owl:Class GO:0051493 biolink:NamedThing regulation of cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. tmpaxzxjjyw_mondo_relaxed.owl regulation of cytoskeleton organisation|regulation of cytoskeleton organization and biogenesis owl:Class MONDO:0011413 biolink:NamedThing cataract 9 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the CRYAA gene. tmpaxzxjjyw_mondo_relaxed.owl cataract 9 multiple types with or without microcornea|CRYAA cataract (disease)|cataract 9, multiple types, with or without microcornea|CATC1|CTRCT9|cataract 9, multiple types|cataract (disease) caused by mutation in CRYAA|autosomal recessive congenital cataract 1|cataract, autosomal recessive congenital 1|cataract, autosomal dominant DOID:0110266|Orphanet:98991|OMIM:604219|Orphanet:91492|Orphanet:98995|ICD10:Q12.0|Orphanet:1377|UMLS:C1858679 owl:Class MONDO:0032853 biolink:NamedThing myopathy, distal, 6, adult-onset, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl MPD6|MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT OMIM:618655 owl:Class MONDO:0004932 biolink:NamedThing null-cell leukemia tmpaxzxjjyw_mondo_relaxed.owl null cell acute lymphoblastic leukemia DOID:9954|UMLS:C0023483|SCTID:277574007 owl:Class CHEBI:33842 biolink:NamedThing aromatic annulene tmpaxzxjjyw_mondo_relaxed.owl aromatic annulenes owl:Class GO:0043084 biolink:NamedThing penile erection The hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014757 biolink:NamedThing macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome tmpaxzxjjyw_mondo_relaxed.owl macrothrombocytopenia and intellectual disability syndrome|TKS|TAKENOUCHI-Kosaki syndrome|Takenouchi-Kosaki syndrome|macrothrombocytopenia and mental retardation syndrome UMLS:C4225222|Orphanet:487796|OMIM:616737 owl:Class CL:0000506 biolink:NamedThing enkephalin secreting cell An endorphine cell that secretes enkephalin. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class GO:1903793 biolink:NamedThing positive regulation of anion transport Any process that activates or increases the frequency, rate or extent of anion transport. tmpaxzxjjyw_mondo_relaxed.owl upregulation of anion transport|activation of anion transport|up-regulation of anion transport|up regulation of anion transport owl:Class HP:0011355 biolink:NamedThing Localized skin lesion A lesion of the skin that is located in a specific region rather than being generalized. tmpaxzxjjyw_mondo_relaxed.owl Localized skin lesion|Localised skin lesion UMLS:C0850826 peter 2012-03-01T02:37:43Z human_phenotype owl:Class HP:0011121 biolink:NamedThing Abnormality of skin morphology Any morphological abnormality of the skin. tmpaxzxjjyw_mondo_relaxed.owl Abnormal skin structure|Abnormal skin morphology UMLS:C4023528|Fyler:4133 peter 2011-06-12T10:03:23Z human_phenotype owl:Class HGNC:14951 biolink:NamedThing PPP1R15B tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032839 biolink:NamedThing dendrite cytoplasm All of the contents of a dendrite, excluding the surrounding plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl dendritic cytoplasm owl:Class GO:0001570 biolink:NamedThing vasculogenesis The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes. tmpaxzxjjyw_mondo_relaxed.owl vascular morphogenesis owl:Class MONDO:0006121 biolink:NamedThing calcifying fibrous tumor A benign well-circumscribed paucicellular lesion arising from the soft tissues. It is characterized by the presence of fibroblasts, lymphoplasmacytic infiltrates, collagenous stroma formation, psammoma bodies, and dystrophic calcifications. tmpaxzxjjyw_mondo_relaxed.owl calcifying fibrous tumor|CFT|calcifying fibrous pseudotumor EFO:1000148|UMLS:C1332833|NCIT:C6488 owl:Class NCBITaxon:91347 biolink:NamedThing Enterobacterales tmpaxzxjjyw_mondo_relaxed.owl Enterobacteriaceae and related endosymbionts|gamma-3 proteobacteria|Enterobacteriales|Enterobacteriaceae group PMID:27620848|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0016061 biolink:NamedThing immunodeficiency with factor H anomaly tmpaxzxjjyw_mondo_relaxed.owl ICD10:D84.1|OMIM:609814|Orphanet:200421 owl:Class HP:0000967 biolink:NamedThing Petechiae Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:50091001|MSH:D011693|UMLS:C0031256|MEDDRA:10034754|SNOMEDCT_US:271813007 human_phenotype owl:Class HP:0031365 biolink:NamedThing Macular purpura Purpura that is flat (non-palpable, not raised). tmpaxzxjjyw_mondo_relaxed.owl Flat purpura 2017-08-29 12:35:34+00:00 peter human_phenotype owl:Class MONDO:0012286 biolink:NamedThing myopathy, autophagic vacuolar, infantile-onset tmpaxzxjjyw_mondo_relaxed.owl myopathy, autophagic vacuolar, infantile-onset OMIM:609500|UMLS:C2931230 owl:Class ECTO:8000017 biolink:NamedThing exposure to atmospheric process A exposure event involving the interaction of an exposure receptor to atmospheric process. tmpaxzxjjyw_mondo_relaxed.owl atmospheric process exposure owl:Class CHEBI:51270 biolink:NamedThing tetracenes Compounds containing a tetracene skeleton. tmpaxzxjjyw_mondo_relaxed.owl naphthacenes owl:Class MONDO:0007191 biolink:NamedThing Behcet disease A chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations. tmpaxzxjjyw_mondo_relaxed.owl Behet's syndrome|Behcet's disease|Behcet syndrome|Behçet’s disease|Behçet disease|Morbus Behçet's syndrome|Behcet's syndrome|Behçet's syndrome|Adamantiades-Behcet disease|Behçet syndrome|Behcet disease|Behçet's disease|triple symptom complex|Behçet-Adamantiades syndrome|silk road disease|BD|Bechet syndrome Orphanet:117|ICD9:136.1|MedDRA:10004213|OMIM:109650|MESH:D001528|SCTID:310701003|DOID:13241|ICD10:M35.2|NCIT:C34416|UMLS:C0004943|GARD:0000848|EFO:0003780 owl:Class MONDO:0014448 biolink:NamedThing hyperthyroxinemia, familial dysalbuminemic An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum thyroxine; (T4) in euthyroid patients with abnormal serum albumin that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and tsh are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the alb gene on chromosome 4. tmpaxzxjjyw_mondo_relaxed.owl FDAH|hyperthyroxinemia, familial Dysalbuminemic|hyperthyroxinemia, familial dysalbuminemic|euthyroid hyperthyroxinemia 1|FDH|bisalbuminemia|familial Dysalbuminemic hyperthyroxinemia|familial Dysalbuminemic hyperthyroidism MESH:D050010|Orphanet:276271|OMIM:615999|NCIT:C131813|SCTID:237547004 owl:Class MONDO:0004224 biolink:NamedThing chronic metabolic polyneuropathy tmpaxzxjjyw_mondo_relaxed.owl chronic metabolic polyneuropathy UMLS:C1333042|DOID:7441|NCIT:C35602 owl:Class MONDO:0025030 biolink:NamedThing digital dermatitis in cattle Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (lameness, animal). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. dichelobacter nodosus and treponema are the most commonly associated causative agents for this mixed bacterial infection disease. tmpaxzxjjyw_mondo_relaxed.owl foot Warts, bovine|Warts, bovine foot|bovine digital dermatitis|Dermatitides, digital|bovine foot Warts|papillomatosis, digital|digital dermatitis, Ovine|bovine hairy footwarts|digital Dermatitides, papillomatous|dermatitis, bovine digital|bovine foot wart|digital Dermatitides, bovine|digital papillomatosis|foot wart, bovine|footwarts, bovine hairy|footwart, bovine hairy|papillomatous digital dermatitis|Ovine digital dermatitis|Papillomatoses, digital|dermatitis, digital|bovine hairy footwart|hairy footwart, bovine|digital dermatitis, bovine|papillomatous digital Dermatitides|digital Papillomatoses|wart, bovine foot|hairy footwarts, bovine|Dermatitides, bovine digital|digital Dermatitides, Ovine|bovine digital Dermatitides|Ovine digital Dermatitides|digital Dermatitides|digital dermatitis, papillomatous MESH:D058066 owl:Class MONDO:0015161 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome without intellectual disability tmpaxzxjjyw_mondo_relaxed.owl multiple congenital anomalies without intellectual disability with or without dysmorphism|MCA without intellectual disability Orphanet:102285 owl:Class MONDO:0009912 biolink:NamedThing prolactin deficiency with obesity and enlarged testes tmpaxzxjjyw_mondo_relaxed.owl prolactin deficiency with obesity and enlarged testes|PRL deficiency with obesity and enlarged testes MESH:C564870|UMLS:C1849698|OMIM:264120 owl:Class MONDO:0014540 biolink:NamedThing amelogenesis imperfecta type 1H Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene. tmpaxzxjjyw_mondo_relaxed.owl ITGB6 amelogenesis imperfecta|amelogenesis imperfecta, type IH|amelogenesis imperfecta caused by mutation in ITGB6|AI1H|amelogenesis imperfecta, type 1H|amelogenesis imperfecta type IH UMLS:C4015557|Orphanet:100031|DOID:0110064|OMIM:616221|ICD10:K00.5|Orphanet:88661 Not in the OMIM series. owl:Class MONDO:0009978 biolink:NamedThing retinal degeneration-nanophthalmos-glaucoma syndrome Retinal degeneration-nanophthalmos-glaucoma syndrome is characterized by progressive pigmentary retinal degeneration (with nyctalopia and visual field restriction), cystic macular degeneration and angle closure glaucoma. It has been described in seven members of one family. Patients also have hyperopia and nanophthalmos. The mode of transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma|Mackay-Shek-Carr syndrome|MacKay Shek Carr syndrome|retinal degeneration, nanophthalmos, glaucoma OMIM:267760|GARD:0000395|MESH:C538364|Orphanet:1574|ICD10:H35.5|SCTID:723503006|UMLS:C2931831 owl:Class NCBITaxon:1913638 biolink:NamedThing Zoopagomycota tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:27738200 ncbi_taxonomy owl:Class MONDO:0013165 biolink:NamedThing hereditary spastic paraplegia 45 Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported. tmpaxzxjjyw_mondo_relaxed.owl hereditary spastic paraplegia type 45|autosomal recessive spastic paraplegia type 65|SPG45|autosomal recessive spastic paraplegia type 45|spastic paraplegia 45, autosomal recessive|autosomal recessive complex spastic paraplegia caused by mutation in NT5C2|NT5C2 autosomal recessive complex spastic paraplegia|SPG65|autosomal recessive spastic paraplegia 45 Orphanet:320396|SCTID:765753004|ICD10:G11.4|DOID:0110797|OMIM:613162|UMLS:CN203996 owl:Class MONDO:0100029 biolink:NamedThing antibody mediated epilepsy An immune epilepsy where the underlying cause is antibody mediated. tmpaxzxjjyw_mondo_relaxed.owl 2018-06-23 00:52:42+00:00 owl:Class MONDO:0100031 biolink:NamedThing adolescent/adult onset autosomal dominant epilepsy with auditory features A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant partial/lateral temporal epilepsy with auditory features 2018-06-23 01:47:18+00:00 owl:Class MONDO:0000531 biolink:NamedThing bronchus mucoepidermoid carcinoma A mucoepidermoid carcinoma that involves the bronchus. tmpaxzxjjyw_mondo_relaxed.owl bronchus mucoepidermoid carcinoma DOID:0050916 owl:Class HGNC:32700 biolink:NamedThing CCDC103 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0025354 biolink:NamedThing Abnormal cellular phenotype An anomaly of cellular morphology or physiology. tmpaxzxjjyw_mondo_relaxed.owl 2017-02-13 00:29:35+00:00 HPO:probinson human_phenotype owl:Class MONDO:0021070 biolink:NamedThing sublingual gland carcinoma A carcinoma that arises from the sublingual gland. Representative examples include cystadenocarcinoma and mucoepidermoid carcinoma. tmpaxzxjjyw_mondo_relaxed.owl sublingual gland cancer|carcinoma of the sublingual gland|sublingual gland carcinoma|carcinoma of sublingual gland UMLS:C0345611|NCIT:C8397|SCTID:254466003 owl:Class MONDO:0100250 biolink:NamedThing 46,XX sex reversal 1 tmpaxzxjjyw_mondo_relaxed.owl ovotesticular DSD|46,XX gonadal dysgenesis, complete, SRY-positive|46,XX SEX reversal 1|46,XX Sex reversal, SRY-positive|46,XX true hermaphroditism, SRY-positive|ovotesticular disorder of Sex development|SRXX1|46,XX Sex reversal type 1 OMIM:400045 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0051349 biolink:NamedThing positive regulation of lyase activity Any process that activates or increases the frequency, rate or extent of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. tmpaxzxjjyw_mondo_relaxed.owl lyase activator|up regulation of lyase activity|activation of lyase activity|up-regulation of lyase activity|stimulation of lyase activity|upregulation of lyase activity owl:Class MONDO:0001523 biolink:NamedThing luxation of globe tmpaxzxjjyw_mondo_relaxed.owl luxation of eye ICD10:H44.82|UMLS:C0154806|DOID:1241|SCTID:20842008|ICD9:360.81 owl:Class MONDO:0001524 biolink:NamedThing globe disease tmpaxzxjjyw_mondo_relaxed.owl DOID:1242|ICD9:360.29|ICD10:H44.39 Editor note: Consider merging with parent owl:Class MONDO:0017331 biolink:NamedThing Pilotto syndrome Pilotto syndrome is a rare genetic multiple developmental anomalies syndrome, that is characterized by craniofacial anomalies (microcephaly, brachycephaly, craniosynostosis, facial asymmetry, cleft lip, cleft palate, dysmorphic facial features, ear lobe malformations, low hair line), congenital heart defects, hypogenitalism and/or hypogonadism, intellectual disability, scoliosis or kyphoscoliosis, short hypoplastic ribs, failure to thrive, growth delay, short stature and/or micromelia. There have been no further descriptions in the literature since 1975. tmpaxzxjjyw_mondo_relaxed.owl cleft lip and palate, congenital heart disease, scoliosis, short stature, and intellectual disability|cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation MESH:C537400|GARD:0004368|UMLS:C2931484|Orphanet:2894 https://rarediseases.info.nih.gov/diseases/4368/pilotto-syndrome owl:Class MONDO:0016417 biolink:NamedThing congenital ichthyosis-microcephalus-tetraplegia syndrome tmpaxzxjjyw_mondo_relaxed.owl congenital ichthyosis-microcephalus-quadriplegia syndrome ICD10:Q87.8|Orphanet:2271 owl:Class CHEBI:39141 biolink:NamedThing Bronsted acid A molecular entity capable of donating a hydron to an acceptor (Bronsted base). tmpaxzxjjyw_mondo_relaxed.owl Bronsted acid|hydron donor|donneur d'hydron|acide de Bronsted|Bronsted-Saeure owl:Class MONDO:0032634 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 31 tmpaxzxjjyw_mondo_relaxed.owl MC1DN31|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 OMIM:618251 owl:Class UBERON:0003514 biolink:NamedThing limb blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008767 biolink:NamedThing neuronal ceroid lipofuscinosis 3 A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. tmpaxzxjjyw_mondo_relaxed.owl Vogt-Spielmeyer disease|CLN3 neuronal ceroid lipofuscinosis|CLN3|CLN3 disease|Spielmeyer Sjogren disease|CLN3 disease, juvenile|ceroid lipofuscinosis, neuronal, 3|Spielmeyer-Sjogren disease|neuronal ceroid lipofuscinosis caused by mutation in CLN3|neuronal ceroid lipofuscinosis 3|ceroid lipofuscinosis, neuronal, type 3|Vogt Spielmeyer disease|neuronal ceroid lipofuscinosis, juvenile|batten disease|neuronal ceroid lipofuscinosis type 3 Orphanet:228346|OMIM:204200|Orphanet:79264|NCIT:C61258|ICD10:E75.4|DOID:0110731|GARD:0005897 owl:Class MONDO:0009635 biolink:NamedThing microvillus inclusion disease Microvillus inclusion disease (MVID) is a very rare, severe, malabsorbative syndrome characterized clinically by protracted or intractable neonatal secretory diarrhea and histologically by inclusion bodies on the intestinal epithelium. tmpaxzxjjyw_mondo_relaxed.owl congenital familial protracted diarrhea with enterocyte brush-border abnormalities|Davidson's disease|congenital familial protracted diarrhea|Davidson disease|diarrhea 2 with microvillus atrophy|congenital microvillous atrophy|secretory diarrhea caused by mutation in MYO5B|diarrhea 2, with microvillus atrophy|MVD|congenital microvillus atrophy|intractable diarrhea of infancy|familial enteropathy, microvillus|microvillus inclusion disease|congenital familial protracted diarrhea with enterocyte Brush-border abnormalities|MYO5B secretory diarrhea|MVID|microvillous inclusion disease|DIAR2|microvillus atrophy, congenital ICD10:P78.3|DOID:0060775|UMLS:C0341306|GARD:0007039|OMIM:251850|Orphanet:2290|MedDRA:10068494|SCTID:235729009|ICD9:579.8 owl:Class UBERON:0002075 biolink:NamedThing viscus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011097 biolink:NamedThing Axenfeld-Rieger syndrome type 2 An Axenfeld-Rieger syndrome that has material basis in deletions in the region 13q14. tmpaxzxjjyw_mondo_relaxed.owl Rieger syndrome type 2|Rieger syndrome, type 2|RIEG2|Axenfeld-Rieger syndrome, type 2 DOID:0110121|MESH:C535680|UMLS:C1832229|ICD10:Q13.8|OMIM:601499|Orphanet:782 owl:Class GO:0090357 biolink:NamedThing regulation of tryptophan metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpaxzxjjyw_mondo_relaxed.owl regulation of tryptophan metabolism owl:Class MONDO:0012040 biolink:NamedThing inflammatory bowel disease 9 An inflammatory bowel disease that has material basis in variation in the chromosome region 3p26. tmpaxzxjjyw_mondo_relaxed.owl IBD9|inflammatory bowel disease 9|inflammatory bowel disease type 9 UMLS:C1838019|MESH:C563926|DOID:0110886|OMIM:608448 owl:Class MONDO:0013655 biolink:NamedThing intellectual disability, autosomal dominant 8 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal dominant 8, formerly|autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1|autosomal dominant intellectual disability 8|autosomal dominant mental retardation 8|GRIN1 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 8|mental retardation, autosomal dominant 8|intellectual disability, autosomal dominant 8|MRD8|autosomal dominant non-syndromic intellectual disability 8|NDHMSD|neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant|mental retardation, autosomal dominant 8, formerly|mental retardation, autosomal dominant type 8 DOID:0070038|Orphanet:178469|UMLS:C3280282|OMIM:614254 owl:Class UBERON:0001584 biolink:NamedThing left subclavian artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006914 biolink:NamedThing squamous epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002422 biolink:NamedThing adamantinoma A low grade malignant neoplasm arising from the long bones. The tibia is the most frequently affected bone site. Patients present with swelling which may or may not be associated with pain. Morphologically, it is characterized by a biphasic pattern consisting of an epithelial and an osteofibrous component. The vast majority of cases recur if they are not treated with radical surgery. In a minority of cases the tumor may metastasize to other anatomic sites including lymph nodes, lungs, liver, brain, and skeleton. tmpaxzxjjyw_mondo_relaxed.owl adamantinoma of long bones|long bone adamantinoma|adamantinoma of long bones (morphologic abnormality)|Extragnathic adamantinoma|adamantinoma|adamantinoma, malignant|adamantinoma of long bone UMLS:C0334556|DOID:2776|UMLS:C1367554|SCTID:307609003|ICD9:170.9|NCIT:C7644|MESH:D050398|MESH:C562741|ONCOTREE:ADMA|OMIM:102660|DOID:2775|Orphanet:55881|ICDO:9261/3|ICD10:C40.2 owl:Class GO:0001228 biolink:NamedThing DNA-binding transcription activator activity, RNA polymerase II-specific A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II. tmpaxzxjjyw_mondo_relaxed.owl copper ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcriptional activator activity, metal ion regulated proximal promoter sequence-specific DNA binding|transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding|RNA polymerase II transcriptional activator activity, copper ion regulated proximal promoter sequence-specific DNA binding|RNA polymerase II transcriptional activator activity, zinc ion regulated proximal promoter sequence-specific DNA binding|transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding|proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific|metal ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding|transcriptional activator activity, metal ion regulated sequence-specific DNA binding|sequence-specific distal enhancer binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|zinc ion regulated core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity involved in positive regulation of transcription|RNA polymerase II distal enhancer sequence-specific DNA-binding transcription factor activity involved in positive regulation of transcription|metal ion regulated sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific|transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding|RNA polymerase II transcriptional activator activity, metal ion regulated core promoter proximal region sequence-specific binding|RNA polymerase II transcriptional activator activity, zinc ion regulated core promoter proximal region sequence-specific binding owl:Class UBERON:0003342 biolink:NamedThing mucosa of anal canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010042 biolink:NamedThing spastic diplegia and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl hereditary spastic diplegia with mental retardation|spastic diplegia and intellectual disability|spastic diplegia, infantile type|spastic diplegia and mental retardation|hereditary spastic diplegia with intellectual disability|spastic diplegia infantile type UMLS:C1849139|MESH:C537481|GARD:0004911|OMIM:270600 owl:Class MONDO:0012001 biolink:NamedThing mandibulofacial dysostosis with ptosis, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl mandibulofacial dysostosis with ptosis, autosomal dominant OMIM:608257|UMLS:C1842349|MESH:C564267 owl:Class MONDO:0002237 biolink:NamedThing carbuncle An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is staphylococcus aureus. Carbuncles produce fever, leukocytosis, extreme pain, and prostration. tmpaxzxjjyw_mondo_relaxed.owl carbuncle and furuncle of upper arm and forearm|carbuncle and furuncle of hand|carbuncle and furuncle of leg except foot|carbuncle and furuncle of neck|carbuncle and furuncle of face|carbuncle and furuncle of buttock|carbuncle and furuncle of any part of face except eye|carbuncle and furuncle of foot|carbuncle and furuncle of gluteal region|carbuncle and furuncle of trunk ICD9:680.8|UMLS:C0007078|ICD9:680.9|DOID:2176|EFO:1000674|MESH:D002270|SCTID:416893007 owl:Class MONDO:0002922 biolink:NamedThing pyoderma Any skin disease that is pyegenic. tmpaxzxjjyw_mondo_relaxed.owl SCTID:70759006|ICD9:686.0|MESH:D011711|ICD10:L08.0|UMLS:C0034212|ICD9:686.09|ICD9:686.00|DOID:4223 owl:Class UBERON:0004581 biolink:NamedThing systemic venous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17019 biolink:NamedThing PRICKLE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014172 biolink:NamedThing spermatogenic failure 12 Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene. tmpaxzxjjyw_mondo_relaxed.owl SPGF12|azoospermia caused by mutation in NANOS1|spermatogenic failure type 12|spermatogenic failure 12|NANOS1 azoospermia DOID:0070171|OMIM:615413|Orphanet:399805|Orphanet:399808|UMLS:C3809427 owl:Class PO:0025082 biolink:NamedThing reproductive shoot system A shoot system (PO:0009006) in the sporophytic phase that has as part at least one sporangium (PO:0025094). tmpaxzxjjyw_mondo_relaxed.owl 生殖シュート 系、苗条系 (Japanese, exact)|sistema de brote reproductivo (Spanish, exact) rwalls 2010-09-17T09:49:10Z plant_anatomy owl:Class MONDO:0003584 biolink:NamedThing visual cortex disorder A disease involving the visual cortex. tmpaxzxjjyw_mondo_relaxed.owl visual cortex dysfunction|visual cortex disorder|disease of visual cortex|disease or disorder of visual cortex|visual cortex disease or disorder|visual cortex disease|disorder of visual cortex ICD10:H47.6|DOID:5691|UMLS:C0234398|ICD9:377.7|SCTID:128329001|NCIT:C35275 owl:Class MONDO:0020429 biolink:NamedThing cor triatriatum dexter tmpaxzxjjyw_mondo_relaxed.owl cor triatriatum dexter|cor triatriatum dexter (disease)|divided right atrium|cor triatriatum dextrum cor triatriatum dexter (disease) ICD10:Q24.2|GARD:0012483|Orphanet:99098|ICD9:746.89|HP:0011566|SCTID:274947007 owl:Class MONDO:0030009 biolink:NamedThing alopecia-intellectual disability syndrome 4 tmpaxzxjjyw_mondo_relaxed.owl alopecia-intellectual disability syndrome 4|ALOPECIA-MENTAL RETARDATION SYNDROME 4|alopecia-mental retardation syndrome 4|APMR4 OMIM:618840 owl:Class MONDO:0002336 biolink:NamedThing inflammatory and toxic neuropathy tmpaxzxjjyw_mondo_relaxed.owl ICD9:357.7|ICD9:357.9|SCTID:267601009|ICD9:357.8|DOID:2537|ICD9:357 Editor note: consider obsoleting owl:Class MONDO:0008543 biolink:NamedThing tetralogy of fallot and glaucoma tmpaxzxjjyw_mondo_relaxed.owl tetralogy of fallot and glaucoma|familial tetralogy of fallot and glaucoma GARD:0010107|OMIM:187501|UMLS:C1861234|MESH:C536501 https://rarediseases.info.nih.gov/diseases/10107/tetralogy-of-fallot-and-glaucoma owl:Class SO:0000986 biolink:NamedThing topology_attribute The attribute of whether a nucleotide polymer is linear or circular. tmpaxzxjjyw_mondo_relaxed.owl topology attribute owl:Class SO:0000443 biolink:NamedThing polymer_attribute An attribute to describe the kind of biological sequence. tmpaxzxjjyw_mondo_relaxed.owl polymer attribute owl:Class UBERON:0001620 biolink:NamedThing central retinal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003501 biolink:NamedThing retina blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009593 biolink:NamedThing spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly. tmpaxzxjjyw_mondo_relaxed.owl SMDS|Sedaghatian chondrodysplasia|spondylometaphyseal dysplasia Sedaghatian type|metaphyseal chondrodysplasia, congenital lethal|spondylometaphyseal dysplasia, Sedaghatian type|lethal metaphyseal dysplasia GARD:0004993|OMIM:250220|MESH:C535798|UMLS:C1855229|ICD10:Q77.8|Orphanet:93317 https://rarediseases.info.nih.gov/diseases/4993/spondylometaphyseal-dysplasia-sedaghatian-type owl:Class UBERON:0005032 biolink:NamedThing mucosa of lower lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004813 biolink:NamedThing tuberculous pneumothorax A pneumothorax in which air enters into the pleural cavity. tmpaxzxjjyw_mondo_relaxed.owl ICD9:011.7|ICD10:A15.0|ICD9:011.76|DOID:9534|ICD9:011.72|UMLS:C0152600|ICD9:011.73|SCTID:29731002|ICD9:011.70|ICD9:011.71 owl:Class MONDO:0002076 biolink:NamedThing pneumothorax Abnormal presence of air in the pleural cavity. tmpaxzxjjyw_mondo_relaxed.owl pneumothorax (disease)|pneumothorax pneumothorax (disease) DOID:1673|ICD9:512.8|HP:0002107|SCTID:36118008|MESH:D011030|ICD10:J93.1|NCIT:C38006 owl:Class MONDO:0020425 biolink:NamedThing abnormal number of coronary ostia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99089|ICD10:Q24.5 owl:Class MONDO:0010668 biolink:NamedThing skeletal dysplasia-intellectual disability syndrome Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked. tmpaxzxjjyw_mondo_relaxed.owl mental retardation skeletal dysplasia abducens palsy|intellectual disability, skeletal dysplasia, and abducens palsy|MRSD|mental retardation, skeletal dysplasia, and abducens palsy|X-linked skeletal dysplasia-intellectual disability syndrome|intellectual disability skeletal dysplasia abducens palsy|Christian syndrome GARD:0003520|Orphanet:1436|OMIM:309620|UMLS:C1839729|ICD10:Q87.5|MESH:C564101|SCTID:722478008 https://rarediseases.info.nih.gov/diseases/3520/mental-retardation-skeletal-dysplasia-abducens-palsy owl:Class MONDO:0032874 biolink:NamedThing ciliary dyskinesia, primary, 43 tmpaxzxjjyw_mondo_relaxed.owl Ciliary Dyskinesia, Primary, 43, With or Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 43|CILD43 OMIM:618699 owl:Class MONDO:0008059 biolink:NamedThing Naegeli-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth. tmpaxzxjjyw_mondo_relaxed.owl NAEGELI-Franceschetti-Jadassohn syndrome|reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy|NAEGELI syndrome|NFJS|NFJ syndrome|Naegeli syndrome|Nfj syndrome|Naegeli-Franceschetti-Jadassohn syndrome Orphanet:69087|SCTID:239084001|GARD:0003912|OMIM:161000|ICD10:Q82.4|DOID:0111528|MESH:C538331|UMLS:C0343111 owl:Class UBERON:0007371 biolink:NamedThing superior surface of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11052 biolink:NamedThing Dengue virus group tmpaxzxjjyw_mondo_relaxed.owl Dengue viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010820 biolink:NamedThing autosomal recessive juvenile Parkinson disease 2 A group of disorders which feature impaired motor control characterized by bradykinesia, muscle rigidity; tremor; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see parkinson disease), secondary parkinsonism (see parkinson disease, secondary) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the basal ganglia. tmpaxzxjjyw_mondo_relaxed.owl Parkinsonism, early onset, with diurnal fluctuation|Parkinson disease 2, autosomal recessive juvenile|Parkinson disease 2|Parkinsonism, early-onset, with diurnal fluctuation|PARK2|PRKN young-onset Parkinson disease|Parkinson disease, juvenile, autosomal recessive|young-onset Parkinson disease caused by mutation in PRKN|Parkinson disease autosomal recessive, early onset|PDJ|autosomal recessive juvenile Parkinson disease 2|autosomal recessive juvenile Parkinson disease|autosomal recessive juvenile Parkinson disease type 2|autosomal recessive juvenile Parkinson's disease 2|JP|juvenile parkinsonism MESH:D020734|UMLS:C1868675|Orphanet:2828|GARD:0009642|OMIM:600116|DOID:0060368 owl:Class MONDO:0024306 biolink:NamedThing acquired lactic acidosis An instance of lactic acidosis that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl lactic acidosis|acquired lactic acidosis ICD10:E87.2|DOID:3650|EFO:1000036|UMLS_CUI:C0001125 owl:Class MONDO:0005961 biolink:NamedThing sinusitis An acute or chronic inflammatory process affecting the mucous membranes of any sinus cavity. tmpaxzxjjyw_mondo_relaxed.owl ICD9:461|ICD10:J01|SCTID:36971009|DOID:0050127|EFO:0007486|NCIT:C35024|ICD10:J01.9|MESH:D012852|ICD10:J01.90|ICD9:461.9|UMLS:C0037199 owl:Class UBERON:0004803 biolink:NamedThing penis epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031301 biolink:NamedThing integral component of organelle membrane The component of the organelle membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. tmpaxzxjjyw_mondo_relaxed.owl integral to organelle membrane owl:Class GO:0042364 biolink:NamedThing water-soluble vitamin biosynthetic process The chemical reactions and pathways resulting in the formation of any of a diverse group of vitamins that are soluble in water. tmpaxzxjjyw_mondo_relaxed.owl water-soluble vitamin synthesis|water-soluble vitamin formation|water-soluble vitamin biosynthesis|water-soluble vitamin anabolism owl:Class MONDO:0009095 biolink:NamedThing dermatoosteolysis, Kirghizian type Dermatoosteolysis, Kirghizian type, is characterised by recurrent skin ulceration, arthralgia, fever, peri-articular osteolysis, oligodontia and nail dystrophy. This disease has been described in five sibs in a family of Kirghizian origin (Central Asia). Three of the sibs also presented with keratitis leading to visual impairment or blindess. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive syndrome of skin ulceration, arthroosteolysis with pseudoacromegaly, keratitis, and oligodontia|Kirghizian Dermatoosteolysis|dermatoosteolysis, Kirghizian type|Dermatoosteolysis Kirghizian type GARD:0001814|MESH:C535373|UMLS:C1857301|Orphanet:1657|SCTID:721090002|OMIM:221810 https://rarediseases.info.nih.gov/diseases/1814/dermatoosteolysis-kirghizian-type owl:Class MONDO:0009219 biolink:NamedThing fascial dystrophy, congenital tmpaxzxjjyw_mondo_relaxed.owl fascial dystrophy, congenital SCTID:399948007|ICD9:709.8|MESH:C563219|OMIM:228020|Orphanet:2833 owl:Class MONDO:0008492 biolink:NamedThing stiff skin syndrome A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy. tmpaxzxjjyw_mondo_relaxed.owl stiff skin syndrome|STIFF skin syndrome|SSKS OMIM:228020|Orphanet:2833|MESH:C566112|GARD:0005025|OMIM:184900|SCTID:765187004|NCIT:C118636|ICD10:L98.8|DOID:0111561|UMLS:C1861456 https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome owl:Class GO:2001257 biolink:NamedThing regulation of cation channel activity Any process that modulates the frequency, rate or extent of cation channel activity. tmpaxzxjjyw_mondo_relaxed.owl regulation of cation diffusion facilitator activity|regulation of nonselective cation channel activity owl:Class MONDO:0007539 biolink:NamedThing encephalopathy, recurrent, of childhood tmpaxzxjjyw_mondo_relaxed.owl encephalopathy, recurrent, of childhood|encephalopathy recurrent of childhood|Neuhauser Eichner Opitz syndrome MESH:C536407|GARD:0002117|OMIM:130950|Orphanet:2672 https://rarediseases.info.nih.gov/diseases/2117/encephalopathy-recurrent-of-childhood owl:Class CL:0002134 biolink:NamedThing stromal cell of ovarian medulla A stromal cell of the ovarian medulla. tmpaxzxjjyw_mondo_relaxed.owl FMA:256171 tmeehan 2010-08-23T12:12:17Z cell owl:Class CL:0002132 biolink:NamedThing stromal cell of ovary A stomal cell of the ovary tmpaxzxjjyw_mondo_relaxed.owl ovarian stromal cell FMA:72299 tmeehan 2010-08-23T12:10:31Z cell owl:Class UBERON:0036304 biolink:NamedThing anatomical border tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003168 biolink:NamedThing cerebellar pilocytic astrocytoma A WHO Grade 1 astrocytoma which arises in the cerebellum. The tumor is composed of spindle shaped cells with numerous collections of reddish astrocytic fibers called Rosenthal fibers. Over 80% or the cerebellar astrocytomas of childhood are pilocytic. Pilocytic astrocytomas may rarely occur in adults. They are usually treated by surgical resection and in most cases have a favorable prognosis. tmpaxzxjjyw_mondo_relaxed.owl cerebellar pilocytic astrocytoma|pilocytic astrocytoma of the cerebellum|cerebellum pilocytic astrocytoma|pilocytic astrocytoma of cerebellum UMLS:C0349620|NCIT:C6809|DOID:4853|SCTID:277507004 owl:Class MONDO:0013424 biolink:NamedThing 3p- syndrome Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. tmpaxzxjjyw_mondo_relaxed.owl 3p monosomy|distal 3p deletion|3p- syndrome|deletion 3p25|distal monosomy 3p|chromosome 3pter-p25 deletion syndrome|3p deletion|partial monosomy 3p|monosomy 3p|distal monosomy type 3p|chromosome 3p- syndrome|monosomy 3pter|chromosome 3, monosomy 3p25|deletion 3p|Del(3p) syndrome|telomeric monosomy 3p|chromosome 3p deletion|del(3p25) ICD10:Q93.5|Orphanet:1620|NCIT:C41377|GARD:0000037|GARD:0003750|OMIM:613792|SCTID:763528002|DOID:0060417|MESH:C536804 owl:Class MONDO:0009766 biolink:NamedThing oculocerebral hypopigmentation syndrome of Preus tmpaxzxjjyw_mondo_relaxed.owl oculocerebral hypopigmentation syndrome of Preus|oculocerebral hypopigmentation syndrome type Preus GARD:0004034|Orphanet:2720|OMIM:257790|SCTID:716174001|UMLS:C2931646 owl:Class GO:0140352 biolink:NamedThing export from cell The directed movement of some substance from a cell, into the extracellular region. This may occur via transport across the plasma membrane or via exocytosis. tmpaxzxjjyw_mondo_relaxed.owl efflux owl:Class MONDO:0011434 biolink:NamedThing psoriasis 5, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl PSORS5|psoriasis 5, susceptibility to OMIM:604316|DOID:0111282 owl:Class MONDO:0014737 biolink:NamedThing dehydrated hereditary stomatocytosis 2 Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene. tmpaxzxjjyw_mondo_relaxed.owl Dehydrated hereditary stomatocytosis 2|xerocytosis Gardos|DHS2|dehydrated hereditary stomatocytosis 2; DHS2|dehydrated hereditary stomatocytosis caused by mutation in KCNN4|KCNN4 dehydrated hereditary stomatocytosis|Desiccytosis Gardos|Dehydrated hereditary stomatocytosis type 2 OMIM:616689|DOID:0111577|UMLS:C4225242 owl:Class MONDO:0017910 biolink:NamedThing dehydrated hereditary stomatocytosis Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. tmpaxzxjjyw_mondo_relaxed.owl Desiccytosis hereditary|hereditary xerocytosis|xerocytosis hereditary SCTID:715526002|ICD10:D58.8|OMIM:194380|OMIM:616689|DOID:0111575|Orphanet:3202|GARD:0005623 owl:Class FOODON:03411328 biolink:NamedThing goat tmpaxzxjjyw_mondo_relaxed.owl caprine|Capra hircus Linnaeus, 1758 owl:Class MONDO:0010997 biolink:NamedThing supranuclear palsy, progressive, 1 Classical progressive supranuclear palsy, also known as Richardson's syndrome, is the most common clinical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease characterized by postural instability, progressive rigidity, supranuclear gaze palsy and mild dementia. tmpaxzxjjyw_mondo_relaxed.owl Steele-Richardson-Olszewski syndrome|classic PSP syndrome|Steele-Richardson-Olszewski disease|Richardson syndrome|PSNP1|supranuclear palsy, progressive, type 1|supranuclear palsy, progressive, 1|PSP|classic progressive supranuclear palsy syndrome ICD10:G23.1|OMIM:609454|Orphanet:683|UMLS:C0038868|UMLS:CN201679|Orphanet:240071|OMIM:601104|OMIM:610898 owl:Class MONDO:0000901 biolink:NamedThing relapsed/refractory diffuse large B-cell lymphoma A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. tmpaxzxjjyw_mondo_relaxed.owl DOID:0080192 owl:Class MONDO:0011937 biolink:NamedThing peeling skin syndrome 4 Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene. tmpaxzxjjyw_mondo_relaxed.owl CSTA peeling skin syndrome|peeling skin syndrome caused by mutation in CSTA|ichthyosis, exfoliative, autosomal recessive|PSS4|peeling skin syndrome 4|ichthyosis bullosa of Siemens-like|peeling skin syndrome type 4 UMLS:C1842797|Orphanet:289586|MESH:C564309|OMIM:607936|UMLS:C4225407 owl:Class MONDO:0011553 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 26 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q31. tmpaxzxjjyw_mondo_relaxed.owl DFNB26|autosomal recessive nonsyndromic deafness type 26|autosomal recessive deafness 26|deafness, autosomal recessive 26|autosomal recessive nonsyndromic deafness 26 UMLS:C1854275|DOID:0110484|ICD10:H90.3|OMIM:605428|MESH:C565329 owl:Class GO:1905555 biolink:NamedThing positive regulation of blood vessel branching Any process that activates or increases the frequency, rate or extent of blood vessel branching. tmpaxzxjjyw_mondo_relaxed.owl up regulation of patterning of blood vessels|activation of patterning of blood vessels|upregulation of patterning of blood vessels|positive regulation of branching involved in blood vessel morphogenesis|up regulation of branching involved in blood vessel morphogenesis|up-regulation of branching involved in blood vessel morphogenesis|activation of branching involved in blood vessel morphogenesis|up-regulation of patterning of blood vessels|upregulation of branching involved in blood vessel morphogenesis owl:Class HGNC:16501 biolink:NamedThing PDLIM4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003615 biolink:NamedThing lung elastic tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003713 biolink:NamedThing splenic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:51447 biolink:NamedThing organic univalent group tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012445 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 59 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in PJVK|DFNB59|deafness, autosomal recessive 59|autosomal recessive nonsyndromic deafness 59|deafness, autosomal recessive type 59|autosomal recessive nonsyndromic deafness type 59|autosomal recessive deafness 59|PJVK autosomal recessive nonsyndromic deafness OMIM:610220|DOID:0110511|ICD10:H90.3|UMLS:C1857744|MESH:C565698 owl:Class MONDO:0032782 biolink:NamedThing immunodeficiency 63 with lymphoproliferation and autoimmunity tmpaxzxjjyw_mondo_relaxed.owl Interleukin 2 Receptor, Beta, Deficiency of|Cd122 Deficiency|IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY|IMD63|Il2Rb Deficiency OMIM:618495 owl:Class MONDO:0003236 biolink:NamedThing atypical polypoid adenomyoma An adenomyoma characterized by the presence of marked glandular architectural complexity. tmpaxzxjjyw_mondo_relaxed.owl atypical polypoid adenomyoma|atypical polypoid adenomyoma (morphologic abnormality) DOID:4993|NCIT:C6895|UMLS:C1300347 owl:Class UBERON:0003562 biolink:NamedThing midbrain dura mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011808 biolink:NamedThing cataract 27 A cataract that has material basis in mutation in the region 2p12. tmpaxzxjjyw_mondo_relaxed.owl cataract 27, nuclear progressive|cataract type 27|CTRCT27|cataract 27|cataract 27 nuclear progressive|Ccnp Orphanet:91492|ICD10:Q12.0|MESH:C564596|OMIM:607304|DOID:0110233|UMLS:C1846520|Orphanet:98991 owl:Class MONDO:0005362 biolink:NamedThing erectile dysfunction Persistent or recurrent inability to achieve or to maintain an erection during sexual activity. tmpaxzxjjyw_mondo_relaxed.owl impotence|impotence, male|erectile dysfunction (disease)|sexual impotence (finding)|male sexual impotence|male impotence|erectile dysfunction|sexual impotence|dysfunction, erectile|impotence, male sexual|male erectile Disorder|sexual impotence, Male erectile dysfunction (disease) NCIT:C34801|DOID:1875|SCTID:397803000|NCIT:C3133|HP:0000802|MESH:D007172|EFO:0004234 owl:Class MONDO:0002134 biolink:NamedThing physiological sexual disorder Physiological disturbances in normal sexual performance in either the male or the female. tmpaxzxjjyw_mondo_relaxed.owl sexual disorder, physiological|sexual disorders, physiological|physiological sexual dysfunctions|physiological sexual dysfunction|sexual dysfunction|sexual dysfunctions, physiological|physiological sexual disorders|physiological sexual disorder|Sex disorders UMLS:C0549622|DOID:1876|SCTID:231532002|MESH:D012735|ICD10:R37|NCIT:C3347|ICD10:F52.9 owl:Class GO:0045739 biolink:NamedThing positive regulation of DNA repair Any process that activates or increases the frequency, rate or extent of DNA repair. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of DNA repair|activation of DNA repair|up regulation of DNA repair|upregulation of DNA repair|stimulation of DNA repair owl:Class MONDO:0030259 biolink:NamedThing pontocerebellar hypoplasia, type 15 tmpaxzxjjyw_mondo_relaxed.owl pontocerebellar hypoplasia, type 15|PCH15 OMIM:619302 owl:Class MONDO:0017043 biolink:NamedThing congenital mesoblastic nephroma A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis. tmpaxzxjjyw_mondo_relaxed.owl CMn|stromal nephroma, malignant|congenital mesoblastic nephroma|mesoblastic nephroma UMLS:C1332965|SCTID:307604008|Orphanet:2665|NCIT:C6569|ICD10:D41.0|GARD:0001493|DOID:4773|MedDRA:10070665|MESH:D018201|ICDO:8960/1 https://rarediseases.info.nih.gov/diseases/1493/congenital-mesoblastic-nephroma owl:Class MONDO:0003128 biolink:NamedThing classic pulmonary blastoma A pulmonary blastoma composed of a mixture of irregular tubular structures and mesenchymal elements. tmpaxzxjjyw_mondo_relaxed.owl biphasic pulmonary blastoma|classic pulmonary blastoma DOID:4767|UMLS:C1332556|NCIT:C36054 owl:Class MONDO:0007075 biolink:NamedThing alacrima, congenital, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl alacrimia congenita|alacrima, congenital|alacrimia congenita, autosomal dominant Orphanet:91416|MESH:C566307|OMIM:103420 owl:Class MONDO:0100444 biolink:NamedThing RLBP1-related retinopathy A retinopathy caused by bialleleic variants in the RLBP1 gene, often involving flecks in the retina. tmpaxzxjjyw_mondo_relaxed.owl retinitis punctata albescens|Vasterbotten dystrophy|Västerbotten dystrophy|RLBP1 retinopathy|Newfoundland rod-cone dystrophy|cone-rod dystrophy caused by mutation in RLBP1|Newfoundland ROD-cone dystrophy|NFRCD|RLBP1 cone-rod dystrophy|pigmentary retinal dystrophy|Bothnia retinal dystrophy|fundus albipunctatus owl:Class MONDO:0006244 biolink:NamedThing HER2 positive breast carcinoma A biologic subset of breast carcinoma defined by high expression of HER2, GRB7, and TRAP100, and by lack of expression of estrogen receptor (ER). tmpaxzxjjyw_mondo_relaxed.owl ERBB2 Overexpressing subtype of breast carcinoma|HER2 Overexpressing breast carcinoma|HER2 Positive breast cancer|HER2 positive breast carcinoma|HER2 Overexpressing subtype of breast carcinoma|Her2-receptor positive breast cancer UMLS:C1960398|NCIT:C53556|DOID:0060079|EFO:1000294|SCTID:427685000 owl:Class MONDO:0021805 biolink:NamedThing acromesomelic dysplasia, Campailla Martinelli type tmpaxzxjjyw_mondo_relaxed.owl mesomelic dwarfism Campailla-Martinelli type|acromesomelic dysplasia Campailla Martinelli type GARD:0000505|UMLS:C2930969|MESH:C535659 https://rarediseases.info.nih.gov/diseases/505/acromesomelic-dysplasia-campailla-martinelli-type owl:Class MONDO:0009421 biolink:NamedThing hypogonadism, male tmpaxzxjjyw_mondo_relaxed.owl hypogonadism and testicular atrophy|hypogonadism, male SCTID:48723006|ICD9:257.2|OMIM:241100 Editor note: check OMIM owl:Class UBERON:0014795 biolink:NamedThing pelvic appendage muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010789 biolink:NamedThing MELAS syndrome MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations. tmpaxzxjjyw_mondo_relaxed.owl MELAS syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes|mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|MELAS|mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes|mitochondrial encephalomyopathy, lactic acidosis and stroke|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes NCIT:C84885|Orphanet:550|GARD:0007009|MESH:D017241|ICD9:277.87|DOID:3687|MedDRA:10053872|OMIM:540000|ICD10:G71.3|UMLS:C0162671|SCTID:39925003|ICD10:E88.41 owl:Class NCBITaxon:72294 biolink:NamedThing Campylobacteraceae tmpaxzxjjyw_mondo_relaxed.owl Campylobacter group GC_ID:11|PMID:29034857 ncbi_taxonomy owl:Class GO:0033047 biolink:NamedThing regulation of mitotic sister chromatid segregation Any process that modulates the frequency, rate or extent of sister chromatid segregation during mitosis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012105 biolink:NamedThing granulomatosis with polyangiitis A small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis. tmpaxzxjjyw_mondo_relaxed.owl necrotizing respiratory granulomatosis|granulomatosis - Wegener's|Wegener granulomatosis|Midline granulomatosis|pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis|ANCA-associated vasculitis|Wegener's syndrome|granulomatosis with polyangiitis|Wegener's granulomatosis|Wg|GPA MESH:D014890|Orphanet:900|ICD10:M31.3|UMLS:C3495801|UMLS:C4050407|EFO:0005297|NCIT:C123111|SCTID:195353004|ICD10:M31.30|GARD:0007880|ICD9:446.4|DOID:12132|OMIM:608710|MedDRA:10047888 owl:Class MONDO:0006735 biolink:NamedThing duodenogastric reflux Retrograde flow of duodenal contents (bile acids; pancreatic juice) into the stomach. tmpaxzxjjyw_mondo_relaxed.owl duodenogastric reflux (finding) EFO:1000909|MESH:D004383|UMLS:C0013299|DOID:4071|MedDRA:10060865 owl:Class MONDO:0004327 biolink:NamedThing sphenoid sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It is classified as inverted papilloma and oncocytic papilloma. tmpaxzxjjyw_mondo_relaxed.owl Schneiderian papilloma of the sphenoid sinus|Schneiderian papilloma of sphenoid sinus|sphenoid sinus Schneiderian papilloma UMLS:C1336038|NCIT:C6838|DOID:7679 owl:Class MONDO:0009865 biolink:NamedThing glycogen storage disease due to phosphoglycerate mutase deficiency A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy. tmpaxzxjjyw_mondo_relaxed.owl PGAM2 glycogen storage disease|glycogen storage disease type 10|Phosphoglycerate mutase deficiency|Phosphoglycerate mutase, muscle, deficiency of|muscle phosphoglycerate mutase deficiency|GSD due to phosphoglycerate mutase deficiency|GSD 10|GSD type 10|glycogen storage disease caused by mutation in PGAM2|GSDX|glycogen storage disease 10|myopathy due to Phosphoglycerate mutase deficiency|myopathy due to phosphoglycerate mutase deficiency|PGAMM deficiency|GSD10|glycogenosis due to phosphoglycerate mutase deficiency|PGAM deficiency|glycogen storage disease X NCIT:C131647|SCTID:61772003|GARD:0009964|MESH:C536176|Orphanet:97234|ICD10:E74.0|OMIM:261670 owl:Class UBERON:0019204 biolink:NamedThing skin epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001966 biolink:NamedThing Abnormal glomerular mesangium morphology An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. tmpaxzxjjyw_mondo_relaxed.owl Mesangial abnormality|Abnormality of the glomerular mesangium|Abnormality glomerular mesangium morphology UMLS:C4025733 Mesangial cells constitute the central stalk of the glomerulus and are in continuity with the extraglomerular mesangium and the juxtaglomerular apparatus. They have contractile properties generated by anchoring filaments to glomerular basement membrane opposite podocyte foot processes and at the paramesangial angles, thereby assisting in the maintenance of capillary organization and convolution. On the capillary lumen side, mesangial cells are in direct contact with endothelial cells without an intervening basement membrane. human_phenotype owl:Class CHEBI:75324 biolink:NamedThing excipient A generally pharmacologically inactive substance that is formulated with the active ingredient of a medication. tmpaxzxjjyw_mondo_relaxed.owl bulking agents|bulking agent|excipient|filler|fillers owl:Class UBERON:0004884 biolink:NamedThing lobar bronchus mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001628 biolink:NamedThing posterior communicating artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006729 biolink:NamedThing discrete subaortic stenosis A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the aortic valve, anywhere between the aortic valve and the mitral valve. It is characterized by restricted outflow from the left ventricle into the aorta. tmpaxzxjjyw_mondo_relaxed.owl MESH:D021922|EFO:1000901|UMLS:C0012628|DOID:5804 owl:Class MONDO:0006987 biolink:NamedThing subvalvular aortic stenosis An aortic stenosis caused by fibromuscular stenosis or hypertrophic cardiomyopathy. It may be associated with congenital heart defects. tmpaxzxjjyw_mondo_relaxed.owl DOID:5805|NCIT:C85172|MedDRA:10042431|UMLS:C0340375|MESH:D001020|EFO:1001199|OMIM:185500|SCTID:204368006|GARD:0005052 https://rarediseases.info.nih.gov/diseases/5052/subvalvular-aortic-stenosis owl:Class UBERON:0010801 biolink:NamedThing calcaneum pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006637 biolink:NamedThing acute kidney tubular necrosis Acute renal failure caused by the cell death of the renal tubules. Causes include nephrotoxins, cytotoxic drugs, and antibiotics. tmpaxzxjjyw_mondo_relaxed.owl acute tubule necrosis|acute tubular necrosis|acute renal failure with tubular necrosis|ATN - acute tubular necrosis|acute renal failure with lesion of tubular necrosis EFO:1000794|MedDRA:10023441|HP:0008682|ICD10:N17.0|DOID:12556|NCIT:C34749|MESH:D007683|ICD9:584.5|UMLS:C0022672|SCTID:35455006 owl:Class NCBITaxon:6943 biolink:NamedThing Amblyomma americanum tmpaxzxjjyw_mondo_relaxed.owl Haemalastor americanus|Lone Star tick GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6942 biolink:NamedThing Amblyomma tmpaxzxjjyw_mondo_relaxed.owl Aponomma PMID:12386418|GC_ID:1 NCBITaxon:34616 ncbi_taxonomy owl:Class MONDO:0030355 biolink:NamedThing facioscapulohumeral muscular dystrophy 4, digenic tmpaxzxjjyw_mondo_relaxed.owl facioscapulohumeral muscular dystrophy 4, digenic|FSHD4 OMIM:619478 owl:Class MONDO:0003059 biolink:NamedThing bile duct cancer A malignant neoplasm involving the bile duct tmpaxzxjjyw_mondo_relaxed.owl bile duct tumor|malignant neoplasm of the extrahepatic bile duct|malignant bile duct neoplasm|malignant neoplasm of bile duct|Ca extrahepatic bile ducts|cancer of bile duct|bile duct cancer UMLS:C0005396|ICD9:156.1|ICD10:C24.0|NCIT:C2898|DOID:4606 owl:Class MONDO:0002847 biolink:NamedThing skeletal muscle cancer A malignant neoplasm arising from skeletal muscle. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of skeletal muscle|malignant neoplasm of the skeletal muscle|malignant skeletal muscle tissue neoplasm|skeletal muscle tissue cancer|malignant skeletal muscle tumor|malignant skeletal muscle neoplasm|cancer of skeletal muscle tissue|malignant neoplasm of skeletal muscle|malignant tumor of the skeletal muscle|malignant neoplasm of skeletal muscle tissue NCIT:C6516|DOID:4043|UMLS:C1334619 owl:Class MONDO:0007681 biolink:NamedThing goiter, multinodular 1, with or without Sertoli-Leydig cell tumors Any multinodular goiter in which the cause of the disease is a mutation in the DICER1 gene. tmpaxzxjjyw_mondo_relaxed.owl euthyroid goiter|MNG1|goiter, multinodular 1, with or without Sertoli-Leydig cell tumors|multinodular goiter, adolescent|familial MNG|goiter, nontoxic, with Intrathyroidal calcification|simple goiter|FMNG Orphanet:276399|SCTID:267369002|OMIM:138800|MESH:C562732|ICD10:E04.2|UMLS:CN202615|ICD9:240.0 owl:Class MONDO:0009850 biolink:NamedThing periodontitis, chronic, adult tmpaxzxjjyw_mondo_relaxed.owl periodontitis, chronic|periodontitis, adult OMIM:260950|UMLS:C0266929|SCTID:74797001 owl:Class MONDO:0016613 biolink:NamedThing APC-related attenuated familial adenomatous polyposis tmpaxzxjjyw_mondo_relaxed.owl APC-related attenuated familial adenomatous polyposis|APC-related attenuated FAP|APC-related AFAP|APC-related attenuated familial polyposis coli UMLS:CN201818|ICD10:D12.6|OMIM:175100|Orphanet:247806 Editor note: TODO add gene owl:Class MONDO:0018342 biolink:NamedThing Joubert syndrome with Jeune asphyxiating thoracic dystrophy Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes. tmpaxzxjjyw_mondo_relaxed.owl JBTS with JATD|Joubert syndrome with JATD UMLS:CN225944|Orphanet:397715|SCTID:733418003|UMLS:C4518774|ICD10:Q04.3|OMIM:615636|OMIM:616546 owl:Class MONDO:0015597 biolink:NamedThing pustulosis palmaris et plantaris tmpaxzxjjyw_mondo_relaxed.owl palmoplantar pustulosis|acropustulosis|localized pustular psoriasis|LPP|pustulosis of palm and sole|PPP|pustular psoriasis of the palms and/or soles DOID:4398|NCIT:C34888|SCTID:81271001|MedDRA:10050185|Orphanet:163927|GARD:0012820|SCTID:27520001|ICD10:L40.3|ICD9:696.1 owl:Class MONDO:0011679 biolink:NamedThing craniosynostosis syndrome, autosomal recessive Autosomal recessive form of craniosynostosis. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive craniosynostosis|craniosynostosis syndrome, autosomal recessive|craniosynostosis, autosomal recessive MESH:C564700|OMIM:606529|UMLS:C1847865 owl:Class MONDO:0017523 biolink:NamedThing polydactyly of a biphalangeal thumb, unilateral tmpaxzxjjyw_mondo_relaxed.owl preaxial polydactyly type 1, unilateral ICD10:Q69.1|Orphanet:295144|UMLS:CN203254 owl:Class MONDO:0010591 biolink:NamedThing fingerprint body myopathy Fingerprint body myopathy is a congenital benign muscle disorder characterised by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission. tmpaxzxjjyw_mondo_relaxed.owl fingerprint body myopathy UMLS:C1844560|ICD10:G71.2|Orphanet:97232|GARD:0012720|MESH:C564425|OMIM:305550 https://rarediseases.info.nih.gov/diseases/12720/fingerprint-body-myopathy owl:Class MONDO:0100410 biolink:NamedThing acute myeloid leukemia, t(16;21)(p11;q22) Any acute myeloid leukemia that has the chromosomal anomaly t(16;21)(p11;q22). (A chromosomal translocation involving the FUS gene on chromosome 16p11 and the ERG gene on chromosome 21q22.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(16;21)(p11.2;q22.2)|AML, t(16;21)(p11;q22) NCIT:C36616 owl:Class MONDO:0018955 biolink:NamedThing recurrent respiratory papillomatosis Recurrent respiratory papillomatosis is a rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation may include hoarseness, chronic cough, dyspnea, recurrent upper respiratory infections, pneumonia, dysphagia, stridor, and/or failure to thrive. tmpaxzxjjyw_mondo_relaxed.owl JORRP (type)|AORRP (type)|juvenile-onset recurrent respiratory papillomatosis (type)|laryngeal papilloma, recurrent|RRP|adult-onset recurrent respiratory papillomatosis (type)|juvenile laryngeal papilloma|respiratory papillomatosis, recurrent|recurrent respiratory papillomatosis GARD:0000111|MedDRA:10059314|ICD9:078.19|UMLS:C1168198|NCIT:C128637|MESH:C535297|Orphanet:60032|SCTID:472827002 https://rarediseases.info.nih.gov/diseases/111/recurrent-respiratory-papillomatosis owl:Class MONDO:0013410 biolink:NamedThing 46,XY sex reversal 6 tmpaxzxjjyw_mondo_relaxed.owl 46,XY Sex reversal type 6|46,XY SEX reversal 6|46,XY Sex reversal, partial or complete, Map3K1-related|46,XY gonadal dysgenesis, partial or complete, Map3K1-related|SRXY6|46,XY sex reversal 6 DOID:0111769|Orphanet:251510|OMIM:613762|UMLS:C3151064|Orphanet:242 owl:Class MONDO:0009199 biolink:NamedThing ethanolaminosis tmpaxzxjjyw_mondo_relaxed.owl ethanolamine kinase deficiency|ethanolaminosis SCTID:64235006|UMLS:C0268423|MESH:C562651|ICD9:270.8|OMIM:227150 owl:Class MONDO:0012050 biolink:NamedThing major depressive disorder 1 tmpaxzxjjyw_mondo_relaxed.owl MDD1|major depressive disorder 1|major depressive disorder type 1|unipolar depression 1 UMLS:C1837929|MESH:C563919|OMIM:608520 owl:Class HP:0001369 biolink:NamedThing Arthritis Inflammation of a joint. tmpaxzxjjyw_mondo_relaxed.owl Arthritis|Joint inflammation SNOMEDCT_US:3723001|UMLS:C0003864|MSH:D001168 human_phenotype owl:Class MONDO:0006893 biolink:NamedThing Pasteurella hemorrhagic septicemia Any of several bacterial diseases, usually caused by pasteurella multocida, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans. tmpaxzxjjyw_mondo_relaxed.owl septicemia, hemorrhagic|Septicaemia, hemorrhagic|hemorrhagic bacteremia|bacteremia, haemorrhagic|septicemia, haemorrhagic|haemorrhagic septicemia|bacteremia, hemorrhagic|haemorrhagic Septicaemia|hemorrhagic Septicaemia|Septicaemia, haemorrhagic|haemorrhagic bacteremia MESH:D006483|SCTID:198462004|EFO:1001091 owl:Class MONDO:0001375 biolink:NamedThing bladder trigone cancer A malignant neoplasm involving the trigone of urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl cancer of trigone of urinary bladder|malignant trigone of urinary bladder neoplasm|malignant neoplasm of trigone of urinary bladder|trigone of urinary bladder cancer DOID:11813|ICD9:188.0|ICD10:C67.0|UMLS:C0496826|SCTID:188239000 owl:Class MONDO:0014335 biolink:NamedThing diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome tmpaxzxjjyw_mondo_relaxed.owl microcephaly, progressive, with seizures and cerebral and cerebellar atrophy|diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome|MSCCA OMIM:615760|UMLS:C4014239|Orphanet:404437|ICD10:G98 owl:Class MONDO:0004714 biolink:NamedThing atrophic muscular disease A group of primary or secondary disorders affecting the muscles. It is characterized by an abnormal reduction in the muscle volume and atrophy. The atrophy may be caused by diseases of the muscle tissues or diseases of the peripheral nerves. tmpaxzxjjyw_mondo_relaxed.owl atrophic muscular disorder DOID:913|NCIT:C84574 owl:Class MONDO:0008980 biolink:NamedThing ataxia-hypogonadism-choroidal dystrophy syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. tmpaxzxjjyw_mondo_relaxed.owl ataxia - hypogonadism - choroidal dystrophy|Boucher-Neuhauser syndrome|Boucher-Neuhchäuser syndrome|spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy|chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism|Boucher-Neuhäuser syndrome|BNHS SCTID:715984007|MESH:C565850|GARD:0000944|Orphanet:1180|ICD10:G11.8|UMLS:C1859093|OMIM:215470|DOID:0111265 owl:Class MONDO:0006557 biolink:NamedThing hemangioma of subcutaneous tissue A hemangioma arising from the subcutaneous soft tissues. tmpaxzxjjyw_mondo_relaxed.owl hemangioma of subcutaneous tissue|angioma of the subcutaneous tissue|subcutaneous hemangioma|subcutaneous tissue hemangioma|subcutaneous haemangioma|angioma of subcutaneous tissue|superficial fascia hemangioma|subcutaneous tissue angioma|subcutaneous angioma|hemangioma of superficial fascia|hemangioma of the subcutaneous tissue UMLS:C0685200|EFO:1000707|SCTID:93473009|DOID:13081|NCIT:C8540 owl:Class GO:0099513 biolink:NamedThing polymeric cytoskeletal fiber A component of the cytoskeleton consisting of a homo or heteropolymeric fiber constructed from an indeterminate number of protein subunits. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006091 biolink:NamedThing appendix neuroendocrine tumor G1 A well differentiated, low grade tumor with neuroendocrine differentiation that arises from the appendix. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpaxzxjjyw_mondo_relaxed.owl appendix carcinoid tumor|appendiceal carcinoid tumor|vermiform appendix NET G1|appendix NET G1|vermiform appendix carcinoid tumor (disease)|appendix carcinoid endocrine tumour|appendix NET G1 (carcinoid)|vermiform appendix carcinoid tumor|appendix neuroendocrine tumor G1 (carcinoid)|vermiform appendix neuroendocrine neoplasm G1|grade 1 neuroendocrine neoplasm of vermiform appendix|vermiform appendix neuroendocrine tumor, well differentiated, low grade|carcinoid tumor of the appendix|carcinoid tumor of appendix ICD9:209.11|NCIT:C4138|DOID:0050911|EFO:1000092|UMLS:C0334298|ICDO:8240/1|SCTID:253002004 owl:Class UBERON:0014453 biolink:NamedThing gustatory epithelium of palate tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:716545 biolink:NamedThing saccharomyceta tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:12305 biolink:NamedThing TRIP11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903787 biolink:NamedThing negative regulation of glutathione biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of glutathione biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl inhibition of glutathione anabolism|inhibition of glutathione biosynthesis|inhibition of glutathione formation|downregulation of glutathione biosynthetic process|downregulation of glutathione formation|down-regulation of glutathione biosynthetic process|down-regulation of glutathione biosynthesis|downregulation of glutathione anabolism|inhibition of glutathione synthesis|down regulation of glutathione formation|negative regulation of glutathione anabolism|inhibition of glutathione biosynthetic process|down-regulation of glutathione formation|down regulation of glutathione biosynthesis|negative regulation of glutathione biosynthesis|down regulation of glutathione biosynthetic process|down regulation of glutathione synthesis|down-regulation of glutathione anabolism|downregulation of glutathione synthesis|negative regulation of glutathione synthesis|down-regulation of glutathione synthesis|negative regulation of glutathione formation|downregulation of glutathione biosynthesis|down regulation of glutathione anabolism owl:Class GO:0034249 biolink:NamedThing negative regulation of cellular amide metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amides. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of amide metabolism owl:Class MONDO:0001484 biolink:NamedThing paranoid schizophrenia A subtype of schizophrenia characterized by prominent delusions (typically persecutory or grandiose) or hallucinations in the context of a relative preservation of cognitive functioning and affect. tmpaxzxjjyw_mondo_relaxed.owl paraphrenia - late|paraphrenic schizophrenia|paranoid type schizophrenia subchronic state|chronic paranoid schizophrenia|paranoid type schizophrenia NCIT:C35006|ICD9:295.31|ICD9:295.30|SCTID:31658008|ICD9:295.32|DOID:1229|MESH:D012563|ICD10:F20.0|ICD9:295.3 owl:Class GO:0006024 biolink:NamedThing glycosaminoglycan biosynthetic process The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars. tmpaxzxjjyw_mondo_relaxed.owl glycosaminoglycan synthesis|glycosaminoglycan biosynthesis|glycosaminoglycan formation|glycosaminoglycan anabolism owl:Class GO:0030203 biolink:NamedThing glycosaminoglycan metabolic process The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties. tmpaxzxjjyw_mondo_relaxed.owl glycosaminoglycan metabolism owl:Class UBERON:0001352 biolink:NamedThing external acoustic meatus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002219 biolink:NamedThing paraurethral gland neoplasm A neoplasm (disease) that involves the paraurethral gland. tmpaxzxjjyw_mondo_relaxed.owl paraurethral gland neoplasm (disease)|tumor of the paraurethral gland|neoplasm of paraurethral glands|tumor of paraurethral gland|paraurethral gland tumor|neoplasm of paraurethral gland SCTID:126884005|ICD9:239.5|DOID:2139|UMLS:C0341766 owl:Class MONDO:0009017 biolink:NamedThing corneal degeneration, band-shaped spheroid tmpaxzxjjyw_mondo_relaxed.owl corneal degeneration, band-shaped spheroid OMIM:217520 owl:Class MONDO:0010566 biolink:NamedThing X-linked cone-rod dystrophy 1 tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy, X-linked, type 1|CORDX1|COD1|cone-rod dystrophy, X-linked, 1|cone dystrophy 1, X-linked|cone-rod dystrophy X-linked 1|cone dystrophy X-linked 1|X-linked cone-rod dystrophy type 1|X-linked cone dystrophy 1 OMIM:304020|GARD:0010652|Orphanet:1872|DOID:0111008|MESH:C564438 https://rarediseases.info.nih.gov/diseases/10652/cone-rod-dystrophy-x-linked-1 owl:Class HGNC:30237 biolink:NamedThing CC2D1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032871 biolink:NamedThing leukodystrophy, hypomyelinating, 19, transient infantile tmpaxzxjjyw_mondo_relaxed.owl LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE|HLD19 OMIM:618688 owl:Class MONDO:0013241 biolink:NamedThing spinocerebellar ataxia type 30 Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by a slowly progressive and relatively pure ataxia. tmpaxzxjjyw_mondo_relaxed.owl SCA30|spinocerebellar ataxia type 30|spinocerebellar ataxia 30 DOID:0050979|ICD10:G11.2|UMLS:C2936793|UMLS:C4304845|MESH:C575214|Orphanet:211017|SCTID:719253007|OMIM:613371|GARD:0004950 owl:Class GO:0031343 biolink:NamedThing positive regulation of cell killing Any process that activates or increases the frequency, rate or extent of cell killing. tmpaxzxjjyw_mondo_relaxed.owl activation of cell killing|upregulation of cell killing|up-regulation of cell killing|up regulation of cell killing|stimulation of cell killing owl:Class MONDO:0006268 biolink:NamedThing liver diffuse large B-cell lymphoma A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver. tmpaxzxjjyw_mondo_relaxed.owl primary liver diffuse large B-cell lymphoma|hepatic diffuse large B-cell lymphoma|primary hepatic diffuse large B-cell lymphoma|liver diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of liver EFO:1000323|NCIT:C96843|UMLS:C2184126 owl:Class MONDO:0021298 biolink:NamedThing carcinoma in situ of oropharynx A in situ carcinoma that involves the oropharynx. tmpaxzxjjyw_mondo_relaxed.owl stage 0 oropharyngeal carcinoma|stage 0 oropharyngeal cancer|stage 0 oropharyngeal carcinoma aJCC v7|stage 0 oropharyngeal throat cancer|stage 0 oropharyngeal carcinoma in situ|oropharynx in situ carcinoma|stage 0 oropharynx carcinoma|stage 0 oropharyngeal carcinoma aJCC v6 and v7|oropharyngeal cancer stage 0|carcinoma in situ of the oropharynx|stage 0 carcinoma of the oropharynx|stage 0 carcinoma of oropharynx|stage 0 oropharyngeal carcinoma aJCC v6|oropharynx carcinoma in situ|oropharyngeal carcinoma in situ|carcinoma in situ of oropharynx UMLS:C0347099|NCIT:C4590|SCTID:92668003 owl:Class PATO:0000386 biolink:NamedThing hard A hardness quality of being rigid and resistant to pressure. tmpaxzxjjyw_mondo_relaxed.owl impenetrable|firm|tough owl:Class MONDO:0032863 biolink:NamedThing spermatogenic failure 41 tmpaxzxjjyw_mondo_relaxed.owl SPGF41|SPERMATOGENIC FAILURE 41 OMIM:618670 owl:Class UBERON:0018142 biolink:NamedThing caudal vertebra endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0006487 biolink:NamedThing Bowing of the long bones A bending or abnormal curvature of a long bone. tmpaxzxjjyw_mondo_relaxed.owl Bowing of the long bones|Diaphyseal bowing of long bones|Diaphyseal bowing|Camptomelia|Bowing of long bones|Bowed long bones UMLS:C1855340 Curvatures of a long bone such as femur, tibia, or fibula. peter 2008-03-28T05:56:00Z HP:0006452|HP:0005087|HP:0005908|HP:0006404|HP:0006451|HP:0002976 human_phenotype owl:Class HGNC:18791 biolink:NamedThing ZFP57 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:188550 biolink:NamedThing Raphignathae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:83145 biolink:NamedThing Eleutherengona tmpaxzxjjyw_mondo_relaxed.owl Eleutherengonides GC_ID:1 ncbi_taxonomy owl:Class HP:0004374 biolink:NamedThing Hemiplegia/hemiparesis Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. tmpaxzxjjyw_mondo_relaxed.owl Paralysis or weakness of one side of body UMLS:C0375206 peter 2008-03-18T07:35:00Z human_phenotype owl:Class HP:0010549 biolink:NamedThing Weakness due to upper motor neuron dysfunction Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. tmpaxzxjjyw_mondo_relaxed.owl Paralysis due to lesions of the principle motor tracts UMLS:C4021255 peter 2009-10-01T08:30:25Z human_phenotype owl:Class UBERON:0003426 biolink:NamedThing dermis adipose tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004234 biolink:NamedThing iris smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0000470 biolink:NamedThing increased amount An amount which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl present in greater numbers in organism|increased|supernumerary|increased number|accessory owl:Class MONDO:0003523 biolink:NamedThing gastrin-producing neuroendocrine tumor A gastrin-producing neuroendocrine tumor. It is usually located in the pancreas but it is also found at other anatomic sites, including the stomach and small intestine. tmpaxzxjjyw_mondo_relaxed.owl gastrin secreting tumor|malignant gastrinoma|G cell tumor|gastrin-producing neuroendocrine tumor|gastrin cell tumour|gastrin-producing NET|G-cell tumor|gastrinoma|G-cell gastrin producing tumor UMLS:CN206461|ICDO:8153/1|DOID:5577|NCIT:C3050|MESH:D015408 owl:Class MONDO:0004832 biolink:NamedThing esophagus leiomyoma A benign smooth muscle neoplasm arising from the lower part of the esophagus. It is the most common mesenchymal neoplasm of the esophagus. Dysphagia is a frequent clinical symptom. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of the esophagus|esophagus leiomyoma|esophageal leiomyoma|leiomyoma of esophagus NCIT:C3866|UMLS:C0238114|SCTID:276805005|DOID:960 owl:Class MONDO:0018533 biolink:NamedThing undifferentiated carcinoma of liver and intrahepatic biliary tract Undifferentiated carcinoma of liver and intrahepatic biliary tract is an extremely rare epithelial tumor of the liver and biliary tract which presents heterogenous histological findings and not yet fully defined clinicopathological characterisitcs. Patients usually present with nonspecific signs and symptoms, such as abdominal pain, nausea, vomiting, anorexia, weight loss and/or jaundice. Invasive growth, hight metastatic potential and a rapid clinical course are typically associated. tmpaxzxjjyw_mondo_relaxed.owl undifferentiated carcinoma of liver and IBT ICD10:C22.0|ICD10:C22.7|Orphanet:424970|ICD10:C22.1|UMLS:CN242153 owl:Class MONDO:0005437 biolink:NamedThing testicular dysgenesis syndrome A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis. tmpaxzxjjyw_mondo_relaxed.owl SCTID:445338005|EFO:0004893|UMLS:C2919755 owl:Class HGNC:626 biolink:NamedThing APRT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001073 biolink:NamedThing idiopathic progressive polyneuropathy tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154756|ICD9:356.4|DOID:10593|SCTID:33209009 owl:Class MONDO:0017228 biolink:NamedThing autoimmune pancreatitis type 2 Type 2 autoimmune pancreatitis is a form of autoimmune pancreatitis (see this term) affecting both sexes and having a younger age of onset (<60 years) and presenting with abdominal pain, steatorrhea and obstructive jaundice. tmpaxzxjjyw_mondo_relaxed.owl AIP type 2|duct-centric pancreatitis Orphanet:280315|UMLS:CN202713|ICD10:K86.1 owl:Class NCBITaxon:1884637 biolink:NamedThing Cryptococcus gattii species complex tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5206 biolink:NamedThing Cryptococcus tmpaxzxjjyw_mondo_relaxed.owl Cryptococcus|Filobasidiella GC_ID:1 NCBITaxon:5415|NCBITaxon:107441|NCBITaxon:192653 ncbi_taxonomy owl:Class CHEBI:60004 biolink:NamedThing mixture A mixture is a chemical substance composed of multiple molecules, at least two of which are of a different kind. tmpaxzxjjyw_mondo_relaxed.owl Mischung owl:Class MONDO:0011436 biolink:NamedThing autosomal recessive distal spinal muscular atrophy 1 Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features. tmpaxzxjjyw_mondo_relaxed.owl neuronopathy, Severe infantile axonal, with respiratory failure|neuronopathy, distal hereditary motor, type VI|spinal muscular atrophy caused by mutation in IGHMBP2|spinal muscular atrophy with respiratory distress 1|distal-HMN type 6|SIANRF|spinal muscular atrophy, distal, autosomal recessive, 1|spinal muscular atrophy with respiratory distress type 1|DSMA1|Hmn6|HMN 6|diaphragmatic spinal muscular atrophy|autosomal recessive distal spinal muscular atrophy type 1|spinal muscular atrophy, diaphragmatic|dHMN6|SMARD1|HMN VI|spinal muscular atrophy, distal, autosomal recessive, type 1|dSMA1|severe infantile axonal neuropathy with respiratory failure type 1|severe infantile axonal neuropathy with respiratory failure|neuronopathy, distal hereditary motor, type 6|autosomal recessive spinal muscular atrophy with respiratory distress|autosomal recessive distal spinal muscular atrophy 1|IGHMBP2 spinal muscular atrophy|distal hereditary motor neuropathy type 6 SCTID:711483003|ICD10:G12.2|OMIM:604320|GARD:0008592|MESH:C536880|ICD9:335.19|DOID:0111064|Orphanet:98920|UMLS:C1858517 owl:Class CHEBI:30527 biolink:NamedThing flavin A derivative of the dimethylisoalloxazine (7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione) skeleton, with a substituent on the 10 position. tmpaxzxjjyw_mondo_relaxed.owl Flavin|flavins owl:Class MONDO:0018523 biolink:NamedThing pancreatic mucinous cystadenoma A non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of columnar, mucin-producing epithelial cells. It occurs almost exclusively in women. Large tumors are often accompanied by a palpable abdominal mass. tmpaxzxjjyw_mondo_relaxed.owl pancreatic colloidal cystadenoma|pancreatic mucinous cystic neoplasm|colloid cystadenoma of the pancreas|pancreatic mucinous cystadenoma|pancreatic colloid cystadenoma|mucinous cystadenoma of the pancreas|pancreas mucinous cystadenoma|mucinous cystadenocarcinoma of the pancreas|colloidal cystadenoma of the pancreas|pancreatic mucinous cystadenocarcinoma|colloidal cystadenoma of pancreas|colloid cystadenoma of pancreas|mucinous cystadenoma of pancreas ICD10:C25.0|NCIT:C5718|DOID:7735|DOID:7235|ICD10:C25.8|Orphanet:424053|ICD10:C25.2|ICD10:C25.1|ICD10:C25.7 MONDO:0004347 owl:Class MONDO:0006077 biolink:NamedThing adrenal medullary hyperplasia A hyperplasia that involves the adrenal medulla. tmpaxzxjjyw_mondo_relaxed.owl adrenal medulla hyperplasia EFO:1000076|NCIT:C35838 owl:Class MONDO:0016384 biolink:NamedThing hypogonadotropic hypogonadism-frontoparietal alopecia syndrome This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia. tmpaxzxjjyw_mondo_relaxed.owl Salti-Salem syndrome Orphanet:2230|UMLS:CN201280|ICD10:E23.0|SCTID:721842008 owl:Class MONDO:0030987 biolink:NamedThing vertebral, cardiac, tracheoesophageal, renal, and limb defects tmpaxzxjjyw_mondo_relaxed.owl VCTERL syndrome|VCTERL OMIM:619227 owl:Class MONDO:0005847 biolink:NamedThing middle lobe syndrome Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl SCTID:28295001|EFO:0007367|MESH:D008878|UMLS:C0026069|DOID:2810 owl:Class GO:0005615 biolink:NamedThing extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. tmpaxzxjjyw_mondo_relaxed.owl intercellular space owl:Class GO:0009074 biolink:NamedThing aromatic amino acid family catabolic process The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). tmpaxzxjjyw_mondo_relaxed.owl aromatic amino acid family catabolism|aromatic amino acid family breakdown|aromatic amino acid family degradation owl:Class MONDO:0008885 biolink:NamedThing Elsahy-Waters syndrome An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971. tmpaxzxjjyw_mondo_relaxed.owl Elsahy-Waters syndrome|hypospadias-hypertelorism-coloboma and deafness syndrome|hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|brachioskeletogenital syndrome|BSG syndrome|branchio-skeleto-genital syndrome|ESWS|hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss|ELSAHY-Waters syndrome DOID:0080631|ICD10:Q87.8|UMLS:C1863870|MESH:C537084|Orphanet:157788|MESH:C566373|OMIM:211380|SCTID:719097002|Orphanet:1299|OMIM:603463|GARD:0000955 owl:Class GO:0002682 biolink:NamedThing regulation of immune system process Any process that modulates the frequency, rate, or extent of an immune system process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003397 biolink:NamedThing mesentery of duodenum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012005 biolink:NamedThing growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy tmpaxzxjjyw_mondo_relaxed.owl growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy|growth failure, microcephaly, intellectual disability, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy UMLS:C1842321|OMIM:608278|MESH:C564264 owl:Class CHEBI:23114 biolink:NamedThing chloride salt tmpaxzxjjyw_mondo_relaxed.owl chlorides|chloride salts owl:Class UBERON:0008430 biolink:NamedThing lumbar vertebral foramen tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010077 biolink:NamedThing cuboidal epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001472 biolink:NamedThing testicular lymphoma A lymphoma that arises from the testis and is not associated with lymphoma in another anatomic site. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of the testis|primary testicular lymphoma|testicular lymphoma|TLYM|malignant lymphoma of testis|lymphoma of testis ICD9:186.9|SCTID:277664004|ONCOTREE:TLYM|NCIT:C6810|UMLS:C0349644|DOID:12253 owl:Class MONDO:0012574 biolink:NamedThing Potocki-Lupski syndrome 17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated. tmpaxzxjjyw_mondo_relaxed.owl Potocki-Lupski syndrome|PTLS|chromosome 17p11.2 duplication syndrome|chromosome 17P11.2 Duplication syndrome|trisomy 17p11.2|17p11.2 microduplication syndrome|17p11.2 Duplication syndrome|Potocki-Lupski syndrome (dup(17)(p11.2p11.2))|Duplication 17p11.2 syndrome Orphanet:1713|SCTID:734016004|GARD:0010145|NCIT:C124846|UMLS:C2931246|OMIM:610883|DOID:0060853|ICD10:Q92.3 owl:Class CHEBI:52217 biolink:NamedThing pharmaceutical Any substance introduced into a living organism with therapeutic or diagnostic purpose. tmpaxzxjjyw_mondo_relaxed.owl farmaco|medicament|pharmaceuticals owl:Class MONDO:0010507 biolink:NamedThing Xq25 microduplication syndrome tmpaxzxjjyw_mondo_relaxed.owl Xq25 triplication syndrome OMIM:300979|Orphanet:521258|UMLS:C4311049 owl:Class MONDO:0001518 biolink:NamedThing spastic entropion tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155190|SCTID:20828000|DOID:12395|ICD9:374.03 owl:Class MONDO:0001519 biolink:NamedThing entropion The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl entropion (disease)|entropion entropion (disease) MESH:D004774|ICD9:374.00|SCTID:33168009|UMLS:C0014390|DOID:12397|HP:0000621 owl:Class MONDO:0010711 biolink:NamedThing TARP syndrome A rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. tmpaxzxjjyw_mondo_relaxed.owl Pierre Robin syndrome-congenital heart defect-talipes syndrome|talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left Superior vena cava|Pierre Robin syndrome with congenital heart malformation and clubfoot|Pierre Robin sequence-congenital heart defect-talipes syndrome|Pierre Robin sequence - congenital heart defect - talipes|talipes equinovarus - atrial septal defect - Robin sequence - persistence of the left superior vena cava|TARPS|tarp syndrome|Pierre Robin syndrome - congenital heart defect - talipes|talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome DOID:0111780|Orphanet:2886|OMIM:311900|SCTID:725911008|ICD10:Q87.8|MESH:C536942|GARD:0010089|UMLS:C1839463 https://rarediseases.info.nih.gov/diseases/10089/tarp-syndrome owl:Class GO:0005775 biolink:NamedThing vacuolar lumen The volume enclosed within the vacuolar membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031974 biolink:NamedThing membrane-enclosed lumen The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0034284 biolink:NamedThing response to monosaccharide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to monosaccharide stimulus owl:Class MONDO:0000884 biolink:NamedThing myeloid and lymphoid neoplasms associated with FGFR1 abnormalities tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84277|DOID:0080167 Editor note: check relation to MONDO:0007844 owl:Class MONDO:0000893 biolink:NamedThing mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma A rare morphologic variant of bronchiolo-alveolar lung carcinoma characterized by the presence of both mucin and non-mucin producing cells. tmpaxzxjjyw_mondo_relaxed.owl mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma|indeterminate bronchioloalveolar carcinoma|mixed mucinous and non-mucinous bronchioloalveolar lung carcinoma|mixed mucinous and non-mucinous bronchoalveolar lung carcinoma|mixed mucinous and non-mucinous bronchioloalveolar carcinoma ICDO:8254/3|UMLS:C1266036|NCIT:C7270|DOID:0080184 owl:Class CHEBI:79387 biolink:NamedThing trivalent inorganic anion Any inorganic anion with a valency of three. tmpaxzxjjyw_mondo_relaxed.owl trivalent inorganic anions owl:Class MONDO:0011412 biolink:NamedThing familial encephalopathy with neuroserpin inclusion bodies tmpaxzxjjyw_mondo_relaxed.owl FENIB|encephalopathy, familial, with neuroserpin inclusion bodies|encephalopathy, familial, with Collins bodies DOID:0050831|SCTID:702421006|Orphanet:85110|UMLS:C1858680|ICD9:348.39|GARD:0010037|MESH:C536841|OMIM:604218|ICD10:G31.8 https://rarediseases.info.nih.gov/diseases/10037/familial-encephalopathy-with-neuroserpin-inclusion-bodies owl:Class NCIT:C15290 biolink:NamedThing Ostomy tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C49165 biolink:NamedThing Surgical Procedure by Method tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010712 biolink:NamedThing panhypopituitarism, X-linked tmpaxzxjjyw_mondo_relaxed.owl panhypopituitarism X-linked|PHPX|pituitary dwarfism IV (formerly)|pituitary dwarfism IV|panhypopituitarism, X-linked|pituitary dwarfism IV, formerly GARD:0006737|OMIM:312000|DOID:0111779|Orphanet:90695|SCTID:237683004|MESH:C538613 https://rarediseases.info.nih.gov/diseases/6737/panhypopituitarism-x-linked owl:Class MONDO:0019591 biolink:NamedThing panhypopituitarism Insufficient production of all the anterior pituitary hormones. tmpaxzxjjyw_mondo_relaxed.owl Simmond's disease|Simmonds' disease|complete hypopituitarism Orphanet:90695|ICD9:253.2|MedDRA:10033662|UMLS:C0242343|DOID:9410|OMIM:262600|ICD10:E23.0|NCIT:C110940|SCTID:32390006|OMIM:312000 owl:Class UBERON:0006537 biolink:NamedThing female reproductive gland secretion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018684 biolink:NamedThing idiopathic neonatal atrial flutter Idiopathic neonatal atrial flutter (AFL) is a rare rhythm disorder, characterized by sustained tachycardia in newborns and infants with an atrial rate often at around 440 beats/minute (range 340-580). AFL may manifest as asymptomatic tachycardia, congestive heart failure or hydrops. tmpaxzxjjyw_mondo_relaxed.owl neonatal cardiac dysrhythmia Orphanet:45452|ICD10:P29.1|UMLS:CN205105|SCTID:715560009 owl:Class MONDO:0020773 biolink:NamedThing cerebrospinal fluid rhinorrhea Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9) tmpaxzxjjyw_mondo_relaxed.owl csf - cerebrospinal rhinorrhea|Rhinorrheas, Cerebrospinal|Cerebrospinal Fluid Rhinorrhea, post-Traumatic|post-Traumatic Cerebrospinal Fluid Rhinorrhea|Cerebrospinal Fluid Rhinorrhea, Spontaneous|Spontaneous Rhinorrhea, Cerebrospinal Fluid|cerebrospinal fluid rhinorrhea|Rhinorrhea, post-Traumatic, Cerebrospinal Fluid|cerebrospinal rhinorrhea|Rhinorrheas, Cerebrospinal Fluid|Cerebrospinal Fluid Rhinorrhea|Rhinorrhea, Cerebrospinal Fluid, post-Traumatic|CSF rhinorrhoea|post-Traumatic Rhinorrhea, Cerebrospinal Fluid|Traumatic Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Traumatic Cerebrospinal Fluid|Cerebrospinal Fluid Rhinorrhea, post Traumatic|post Traumatic Cerebrospinal Fluid Rhinorrhea|post Traumatic Rhinorrhea, Cerebrospinal Fluid|Rhinorrhea, Cerebrospinal Fluid, Spontaneous|Rhinorrheas, CSF|CSF - Cerebrospinal rhinorrhea|Rhinorrhea, CSF|Rhinorrhea, Cerebrospinal Fluid|Cerebrospinal Fluid Rhinorrhea, Traumatic|Spontaneous Cerebrospinal Fluid Rhinorrhea|Cerebrospinal fluid rhinorrhea|Traumatic Cerebrospinal Fluid Rhinorrhea|Rhinorrhea, Cerebrospinal|Cerebrospinal Rhinorrheas|Rhinorrhea, Cerebrospinal Fluid, Traumatic|CSF Rhinorrheas|Cerebrospinal rhinorrhea|Cerebrospinal Fluid Rhinorrheas|Rhinorrhea, Spontaneous Cerebrospinal Fluid|Cerebrospinal fluid rhinorrhoea|CSF Rhinorrhea|Cerebrospinal Rhinorrhea GTR:AN1355639|NCIT:C84627|MESH:D002559|ICD9:349.81|SCTID:85638002|GTR:AN1353832|UMLS:C0007815|HP:0030998 owl:Class MONDO:0043327 biolink:NamedThing cerebrospinal fluid leak Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA). tmpaxzxjjyw_mondo_relaxed.owl cerebrospinal fluid Drainages|cerebrospinal fluid drainage, spontaneous|fluid Drainages, cerebrospinal|fluid drainage, cerebrospinal|cerebrospinal fluid leakage, spontaneous|csf - cerebrospinal fluid leak|cerebrospinal fluid leakage, traumatic|fluid leakage, cerebrospinal|CSF otorrhea|Leakages, cerebrospinal fluid|cerebrospinal fluid Leakages|cerebrospinal fluid leakage|spinal cerebrospinal fluid leak, post-traumatic|leakage, cerebrospinal fluid|cerebrospinal fluid leak, post-traumatic|CSF rhinorrhea|spinal cerebrospinal fluid leak, post traumatic|cerebrospinal fluid drainage, post-traumatic|cerebrospinal fluid leak, post traumatic|cerebrospinal fluid drainage, post traumatic|spinal cerebrospinal fluid leak|fluid leak, cerebrospinal|fluid Leaks, cerebrospinal|spinal cerebrospinal fluid leak, spontaneous|Drainages, cerebrospinal fluid|cerebrospinal fluid drainage|spinal CSF leak|drainage, cerebrospinal fluid|cerebrospinal fluid Leaks|leak, cerebrospinal fluid|cerebrospinal fluid leak, spontaneous|fluid Leakages, cerebrospinal|cerebrospinal fluid leak, traumatic|cerebrospinal fluid leakage, post-traumatic|cerebrospinal fluid drainage, traumatic|Leaks, cerebrospinal fluid|spinal cerebrospinal fluid leak, traumatic|cerebrospinal fluid leak|cerebrospinal fluid leakage, post traumatic|CSF leak MESH:D065634|SCTID:230744007|GARD:0010166 owl:Class UBERON:0015482 biolink:NamedThing right hepatic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001193 biolink:NamedThing hepatic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000200 biolink:NamedThing gyrus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000157 biolink:NamedThing Abnormality of the tongue Any abnormality of the tongue. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the tongue|Lingual abnormality|Abnormal tongue|Glossal abnormality|Tongue abnormality UMLS:C0878638 human_phenotype owl:Class MONDO:0012488 biolink:NamedThing hepatitis B virus, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl HBV, resistance to|HBV, susceptibility to|hepatitis b virus, susceptibility to|Hepatitis B Virus, resistance to OMIM:610424|UMLS:C3552304 owl:Class MONDO:0006149 biolink:NamedThing clear cell papillary cystadenoma A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion. tmpaxzxjjyw_mondo_relaxed.owl clear cell papillary cystadenoma EFO:1000181|NCIT:C65203|ICDO:8443/0|UMLS:C1880102 owl:Class MONDO:0009671 biolink:NamedThing intellectual disability-myopathy-short stature-endocrine defect syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985. tmpaxzxjjyw_mondo_relaxed.owl Chudley syndrome|Chudley-Rozdilsky syndrome|Chudley Rozdilsky syndrome|multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism|multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism ICD10:Q87.8|MESH:C535458|Orphanet:3068|SCTID:764959000|GARD:0001358|UMLS:C1854663|OMIM:253320 owl:Class GO:0031341 biolink:NamedThing regulation of cell killing Any process that modulates the frequency, rate or extent of cell killing, the process in which a cell brings about the death of another cell, either in the same or a different organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032875 biolink:NamedThing short stature and microcephaly with genital anomalies tmpaxzxjjyw_mondo_relaxed.owl SSMGA|SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES OMIM:618702 owl:Class GO:0071696 biolink:NamedThing ectodermal placode development The progression of an ectodermal placode over time from its initial formation until its mature state. An ectodermal placode is a thickening of the ectoderm that is the primordium of many structures derived from the ectoderm. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000040 biolink:NamedThing bladder microvascular endothelial cell Any microvascular endothelial cell that is part of a urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-07-09T00:04:47Z cell owl:Class UBERON:0001415 biolink:NamedThing skin of pelvis tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000531 biolink:NamedThing primary sensory neuron tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class UBERON:0011566 biolink:NamedThing lumen of esophagus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005297 biolink:NamedThing urethritis Inflammation of the urethra. tmpaxzxjjyw_mondo_relaxed.owl urethra inflammation|urethritis (disease)|Nongonococcal urethritis|inflammation of urethra|non-gonococcal urethritis|urethritis urethritis (disease) MESH:D014526|DOID:1343|EFO:0003878|ICD9:597.80|HP:0500006|ICD10:N34.2|NCIT:C26904|SCTID:84619001|ICD9:099.40 owl:Class MONDO:0001658 biolink:NamedThing nontoxic goiter Sporadic enlargement of the thyroid gland that is not associated with changes in thyroid function or malignancy. tmpaxzxjjyw_mondo_relaxed.owl goiter, non-toxic|non-toxic goiter|nontoxic goiter|goitre, non-toxic|euthyroid goiter|non-toxic simple goitre|Nodule-thyroid, non tox|non-toxic goitre NCIT:C35271|UMLS:C0221777|ICD10:E04.9|ICD10:E04.0|DOID:13195 owl:Class GO:0043933 biolink:NamedThing protein-containing complex subunit organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. tmpaxzxjjyw_mondo_relaxed.owl cellular macromolecular complex subunit organization|protein complex subunit organization|protein complex subunit organisation|macromolecular complex organization|cellular macromolecular complex subunit organisation|macromolecular complex subunit organization|cellular macromolecular complex organization|macromolecular complex subunit organisation owl:Class MONDO:0007046 biolink:NamedThing hereditary papulotranslucent acrokeratoderma A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. tmpaxzxjjyw_mondo_relaxed.owl acrokeratoderma, hereditary papulotranslucent OMIM:101840|MESH:C566323|UMLS:C1863343|EFO:1000708|DOID:0060360 owl:Class HGNC:6700 biolink:NamedThing LRP8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006264 biolink:NamedThing laryngeal adenoid cystic carcinoma A rare adenoid cystic carcinoma of the larynx. It usually arises from the supraglottic or subglottic area. It is characterized by slow progression and late distant metastases. tmpaxzxjjyw_mondo_relaxed.owl laryngeal adenoid cystic carcinoma|laryngeal throat adenoid cystic cancer|adenoid cystic carcinoma of larynx|adenoid cystic carcinoma of the larynx DOID:4869|UMLS:C1334368|EFO:1000319|NCIT:C9462 owl:Class UBERON:0007021 biolink:NamedThing sexually immature organism tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000934 biolink:NamedThing laryngeal leiomyoma A benign smooth muscle neoplasm arising from the larynx. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl laryngeal leiomyoma|leiomyoma of the larynx|larynx leiomyoma|leiomyoma of larynx DOID:10070|UMLS:C1334370|NCIT:C6027 owl:Class MONDO:0008598 biolink:NamedThing trichodysplasia-xeroderma syndrome Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. tmpaxzxjjyw_mondo_relaxed.owl trichodysplasia-xeroderma|trichodysplasia xeroderma Orphanet:3361|OMIM:190360|UMLS:C1860822|MESH:C566032|GARD:0005261 owl:Class NCBITaxon:41013 biolink:NamedThing Tinea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:236781 biolink:NamedThing Tineinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002434 biolink:NamedThing oculomotor nerve cancer A cancer involving a oculomotor nerve. tmpaxzxjjyw_mondo_relaxed.owl malignant oculomotor nerve neoplasm|oculomotor nerve neoplasm, malignant|IIIrd cranial nerve neoplasm, malignant|cancer of oculomotor nerve|oculomotor nerve cancer|malignant oculomotor nerve tumor|malignant neoplasm of oculomotor nerve|primary malignant neoplasm of oculomotor nerve SCTID:93929003|DOID:2816|UMLS:C0686417|NCIT:C6995 owl:Class MONDO:0002435 biolink:NamedThing oculomotor nerve neoplasm A neoplasm involving a oculomotor nerve. tmpaxzxjjyw_mondo_relaxed.owl oculomotor nerve tumor|tumor of oculomotor nerve|oculomotor nerve neoplasm (disease)|neoplasm of oculomotor nerve|IIIrd cranial nerve tumor|oculomotor nerve neoplasm|cranial nerve III tumor SCTID:126969002|NCIT:C6994|UMLS:C1263895|ICD9:239.7|DOID:2817 owl:Class MONDO:0015932 biolink:NamedThing non-syndromic urogenital tract malformation of female A non-syndromic urogenital tract malformation that involves the female organism. tmpaxzxjjyw_mondo_relaxed.owl female organism non-syndromic urogenital tract malformation|isolated urogenital tract malformation of female|nonsyndromic urogenital tract malformation of female|non-syndromic urogenital tract malformation of female organism Orphanet:182117 owl:Class UBERON:0010414 biolink:NamedThing omental fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010411 biolink:NamedThing retroperitoneal fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000964 biolink:NamedThing skin lipoma A benign or malignant adipose tissue neoplasm of the skin. tmpaxzxjjyw_mondo_relaxed.owl skin lipoma|zone of skin lipoma|cutaneous lipomatous tumor|lipoma of face|cutaneous lipoma|lipoma of skin|lipoma of zone of skin|lipoma of the skin ICD9:214.0|NCIT:C4616|DOID:10188|ICD9:214.1|SCTID:255187008 owl:Class HsapDv:0000120 biolink:NamedThing 26-year-old human stage Adult stage that refers to an adultwho is over 26 and under 27. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007294 biolink:NamedThing central core myopathy An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation. tmpaxzxjjyw_mondo_relaxed.owl multicore myopathy, moderate, with hand involvement|neuromuscular disease, congenital, with uniform type 1 Fiber|CCD|muscle core disease|Shy-Magee syndrome|central core disease|minicore myopathy, moderate, with hand involvement|muscular central core disease|myopathy, central core|central CORE disease of muscle|multiminicore disease, moderate, with hand involvement|Cco|myopathy, central fibrillar UMLS:C0751951|OMIM:117000|NCIT:C83010|MESH:D020512|ICD10:G71.2|Orphanet:598|Orphanet:178145|DOID:3529|GARD:0006014|EFO:1000855|SCTID:43152001|Orphanet:597 owl:Class PATO:0001657 biolink:NamedThing increased osmolarity A osmolarity which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl high osmolarity owl:Class MONDO:0014143 biolink:NamedThing Noonan syndrome 8 Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene. tmpaxzxjjyw_mondo_relaxed.owl RIT1 Noonan syndrome|Noonan syndrome caused by mutation in RIT1|Noonan syndrome type 8|Noonan syndrome 8|NS8 Orphanet:648|OMIM:615355|UMLS:C3809233|DOID:0060586 owl:Class MONDO:0014522 biolink:NamedThing retinal dystrophy and obesity tmpaxzxjjyw_mondo_relaxed.owl RDOB|retinal dystrophy and obesity Orphanet:791|OMIM:616188|UMLS:C4015424 owl:Class GO:0061308 biolink:NamedThing cardiac neural crest cell development involved in heart development The process aimed at the progression of a cardiac neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell that contributes to the development of the heart. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016038 biolink:NamedThing calcified aponeurotic fibroma A rare slow-growing benign neoplasm arising from the soft tissues in children. It is a poorly circumscribed tumor characterized by the presence of chondrocyte-like cells, nodular calcification, nuclear palisading, and in some cases osteoclastic giant cells. tmpaxzxjjyw_mondo_relaxed.owl juvenile aponeurotic fibromatosis|Juvenile aponeurotic fibrosis|Keasby tumor|Juvenile aponeurotic fibroma|calcifying aponeurotic fibroma NCIT:C4818|SCTID:703614006|Orphanet:199260|ICD10:M72.8|UMLS:C0553647 owl:Class MONDO:0016215 biolink:NamedThing spastic quadriplegic cerebral palsy A type of spastic cerebral palsy characterized by increased muscle tone of all four extremities. tmpaxzxjjyw_mondo_relaxed.owl inherited congenital spastic quadriplegia|inherited congenital spastic tetraplegia|quadriplegic infantile cerebral palsy|tetraplegic infantile cerebral palsy|spastic tetraplegia cerebral palsy|spastic quadriplegia|spastic quadriplegic cerebral palsy OMIM:612900|OMIM:603513|SCTID:192965001|OMIMPS:612900|DOID:10970|GARD:0010447|Orphanet:210141|UMLS:C0154697|OMIMPS:603513|OMIM:617008|NCIT:C116904|ICD9:344.09|ICD9:343.2|ICD10:G11.4|MESH:D002547 owl:Class GO:0097746 biolink:NamedThing blood vessel diameter maintenance Any process that modulates the diameter of blood vessels. tmpaxzxjjyw_mondo_relaxed.owl regulation of vasodilatation|regulation of vasodilation|regulation of blood vessel diameter|regulation of blood vessel size|blood vessel diameter homeostasis owl:Class GO:0035296 biolink:NamedThing regulation of tube diameter Any process that modulates the diameter of a tube. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003073 biolink:NamedThing Hypoalbuminemia Reduction in the concentration of albumin in the blood. tmpaxzxjjyw_mondo_relaxed.owl Low blood albumin|Hypoalbuminaemia|Low albumin UMLS:C0239981|SNOMEDCT_US:119247004|MSH:D034141 human_phenotype owl:Class HP:0012116 biolink:NamedThing Abnormal circulating albumin concentration Deviation from normal concentration of albumin in the blood. tmpaxzxjjyw_mondo_relaxed.owl Abnormal albumin level UMLS:C4023036 hecht 2012-09-16T05:14:53Z human_phenotype owl:Class MONDO:0016457 biolink:NamedThing ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.0|Orphanet:228396|UMLS:CN201421 owl:Class CHEBI:35471 biolink:NamedThing psychotropic drug A loosely defined grouping of drugs that have effects on psychological function. tmpaxzxjjyw_mondo_relaxed.owl psychopharmaceuticals|psychoactive agent|psychoactive drugs|psychotropic drugs owl:Class GO:0033008 biolink:NamedThing positive regulation of mast cell activation involved in immune response Any process that activates or increases the frequency, rate, or extent of mast cell activation as part of an immune response. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of mast cell activation during immune response owl:Class MONDO:0007036 biolink:NamedThing Achard syndrome A rare genetic syndrome featuring connective tissue abnormalities. Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet. tmpaxzxjjyw_mondo_relaxed.owl Achard syndrome|arachnodactyly, receding lower jaw and joint laxity of hands/feet OMIM:100700|GARD:0008176|NCIT:C35809|DOID:6686|MESH:C536012|UMLS:C1332135 https://rarediseases.info.nih.gov/diseases/8176/achard-syndrome owl:Class MONDO:0006532 biolink:NamedThing cholesteatoma of external ear A cholesteatoma (disease) that involves the external ear. tmpaxzxjjyw_mondo_relaxed.owl cholesteatoma (disease) of external ear|external ear cholesteatoma (disease)|external canal cholesteatoma ICD10:H60.4|ICD9:380.21|UMLS:C0155398|DOID:9462|ICD10:H60.40|SCTID:35247001|EFO:1000677 owl:Class UBERON:0007247 biolink:NamedThing nucleus of superior olivary complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:976 biolink:NamedThing Bacteroidetes tmpaxzxjjyw_mondo_relaxed.owl CFB group|Bacteroidaeota|BCF group|Cytophaga-Flexibacter-Bacteroides phylum|Bacteroides-Cytophaga-Flexibacter group|Bacteroidota|CFB group bacteria PMID:28066339|PMID:26654112|PMID:11542017|PMID:29458499|PMID:11541229|GC_ID:11 NCBITaxon:171554 ncbi_taxonomy owl:Class NCBITaxon:68336 biolink:NamedThing Bacteroidetes/Chlorobi group tmpaxzxjjyw_mondo_relaxed.owl Cytophagales/Green sulfur bacteria group|CFB/Green sulfur bacteria group|CFB/Chlorobi group GC_ID:11 ncbi_taxonomy owl:Class MONDO:0030027 biolink:NamedThing tremor, hereditary essential, 6 tmpaxzxjjyw_mondo_relaxed.owl TREMOR, HEREDITARY ESSENTIAL, 6|ETM6|tremor, hereditary essential, 6 OMIM:618866 owl:Class MONDO:0018786 biolink:NamedThing pontine autosomal dominant microangiopathy with leukoencephalopathy tmpaxzxjjyw_mondo_relaxed.owl PADMAL Orphanet:477749 owl:Class UBERON:0018154 biolink:NamedThing ligament of middle ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6677 biolink:NamedThing LPL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009423 biolink:NamedThing hypokalemic alkalosis, familial, with specific renal tubulopathy tmpaxzxjjyw_mondo_relaxed.owl hypokalemic alkalosis, familial, with specific renal tubulopathy|Gullner syndrome|hypokalemia, familial OMIM:241150|MESH:C562654|SCTID:81987005|UMLS:C0268444 owl:Class CHEBI:141668 biolink:NamedThing L-tyrosinal(1+) A primary ammonium ion resulting from the protonation of the amino group of L-tyrosinal. tmpaxzxjjyw_mondo_relaxed.owl (2S)-1-(4-hydroxyphenyl)-3-oxopropan-2-aminium|(2S)-1-(p-hydroxyphenyl)-3-oxopropan-2-aminium|L-tyrosinal owl:Class CHEBI:65296 biolink:NamedThing primary ammonium ion An ammonium ion derivative resulting from the protonation of the nitrogen atom of a primary amino compound. Major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl a primary amine|substituted ammonium owl:Class ECTO:4000001 biolink:NamedThing exposure to increased temperature A exposure event involving the interaction of an exposure receptor to increased temperature. tmpaxzxjjyw_mondo_relaxed.owl increased temperature exposure owl:Class MONDO:0008390 biolink:NamedThing Rombo syndrome Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis|Rombo syndrome OMIM:180730|GARD:0004738|MESH:C535870|Orphanet:3110|UMLS:C1867147|ICD10:L98.8|SCTID:721904001 https://rarediseases.info.nih.gov/diseases/4738/rombo-syndrome owl:Class MONDO:0011013 biolink:NamedThing autosomal dominant hypocalcemia 1 Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant hypocalcemia caused by mutation in CASR|hypocalcemia, autosomal dominant 1, with Bartter syndrome|CASR autosomal dominant hypocalcemia|HYPOC1|hypocalcemia, autosomal dominant type 1|hypercalciuric hypocalcemia|hypocalcemia, familial|autosomal dominant hypocalcemia type 1|hypocalcemia, autosomal dominant 1 DOID:0090107|OMIM:601198|Orphanet:263417|Orphanet:2238|Orphanet:112|Orphanet:428 owl:Class MONDO:0100352 biolink:NamedThing episodic kinesigenic dyskinesia 1 tmpaxzxjjyw_mondo_relaxed.owl episodic kinesigenic dyskinesia type 1|dystonia, familial paroxysmal|EKD1|DYT-PRRT2|episodic kinesigenic dyskinesia 1|paroxysmal kinesigenic dyskinesia|PRRT2 episodic kinesigenic dyskinesia|episodic kinesigenic dyskinesia caused by mutation in PRRT2|dystonia 10|paroxysmal kinesigenic choreoathetosis|PxMD-PRRT2 SCTID:609221008|ICD9:333.5|DOID:0090053|Orphanet:98809|OMIM:128200|ICD10:G24.8|GARD:0008721|OMIM:611031|MESH:C537180 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0044202 biolink:NamedThing episodic kinesigenic dyskinesia Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements. tmpaxzxjjyw_mondo_relaxed.owl paroxysmal kinesigenic choreathetosis|EKD|familial PKD|familial paroxysmal kinesigenic dyskinesia OMIMPS:128200|Orphanet:98809 owl:Class MONDO:0018633 biolink:NamedThing 20q11.2 microdeletion syndrome 20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported. tmpaxzxjjyw_mondo_relaxed.owl monosomy 20q11|Del(20)(q11.2) Orphanet:444051|UMLS:CN237681|ICD10:Q93.5 owl:Class MONDO:0017406 biolink:NamedThing hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome UMLS:CN203156|Orphanet:293967 owl:Class MONDO:0004527 biolink:NamedThing congenital granular cell tumor An instance of granular cell tumor that is present from birth. tmpaxzxjjyw_mondo_relaxed.owl congenital granular cell tumor DOID:8303 owl:Class MONDO:0015474 biolink:NamedThing cryptosporidiosis Intestinal infection with organisms of the genus Cryptosporidium. It occurs in both animals and humans. Symptoms include severe diarrhea. tmpaxzxjjyw_mondo_relaxed.owl Cryptosporidium infection|Cryptosporidial gastroenteritis|Cryptosporidium infectious disease|Cryptosporidium caused disease or disorder|Cryptosporidioses|infection by Cryptosporidium|Cryptosporidium disease or disorder|intestinal cryptosporidiosis DOID:1733|ICD10:A07.2|UMLS:C0010418|GARD:0006219|SCTID:66160001|NCIT:C128408|MedDRA:10011502|UMLS:C0520796|Orphanet:1549|ICD9:007.4|MESH:D003457 https://rarediseases.info.nih.gov/diseases/6219/cryptosporidiosis owl:Class MONDO:0016953 biolink:NamedThing partial duplication of the long arm of chromosome 2 Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome 2q|partial trisomy of the long arm of chromosome 2|trisomy 2q|partial trisomy 2q|chromosome 2q duplication|partial duplication of the long arm of chromosome type 2|2q trisomy|partial duplication of chromosome 2q|2q duplication|Duplication 2q GARD:0005340|Orphanet:262842|MESH:C535367|UMLS:C0795805 owl:Class UBERON:0008856 biolink:NamedThing stomach muscularis externa tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034933 biolink:NamedThing layer of smooth muscle tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007143 biolink:NamedThing aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Aortic arch anomaly-peculiar facies-intellectual disability syndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968. tmpaxzxjjyw_mondo_relaxed.owl familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism|aortic arch anomaly with peculiar facies and mental retardation|aortic arch anomaly-peculiar facies-intellectual disability syndrome|aortic arch anomaly with peculiar facies and intellectual disability|aortic arch anomaly - peculiar facies - intellectual disability Orphanet:1110|UMLS:C1862682|ICD10:Q87.8|MESH:C537785|GARD:0000739|OMIM:107500 owl:Class MONDO:0006284 biolink:NamedThing major salivary gland carcinoma A carcinoma that arises from the parotid gland, submandibular gland, or sublingual gland. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of Major salivary gland|major salivary gland carcinoma|carcinoma of major salivary gland|major salivary gland cancer|carcinoma of the Major salivary gland UMLS:C1334549|EFO:1000344|NCIT:C5907 owl:Class MONDO:0003979 biolink:NamedThing intrahepatic bile duct cystadenoma A mucinous cystic neoplasm that arises from the intrahepatic bile ducts. tmpaxzxjjyw_mondo_relaxed.owl intrahepatic bile duct cystadenoma|cystadenoma of the intrahepatic bile duct|intrahepatic bile duct mucinous cystic neoplasm UMLS:C1334257|DOID:6733|NCIT:C96835 owl:Class MONDO:0003444 biolink:NamedThing intrahepatic bile duct adenoma A rare adenoma that arises from the intrahepatic biliary tree. tmpaxzxjjyw_mondo_relaxed.owl adenoma, HEPATOCHOLANGIOCELLULAR, benign|adenoma of intrahepatic bile duct|intrahepatic bile duct adenoma|adenoma of the intrahepatic bile duct NCIT:C7126|DOID:5437|UMLS:C1331535 owl:Class MONDO:0021752 biolink:NamedThing Achard-Thiers syndrome Achard–Thiers syndrome combines the features of adrenogenital syndrome and Cushing syndrome. It occurs mainly in post-menopausal women tmpaxzxjjyw_mondo_relaxed.owl diabetes in bearded women|Achard Thiers syndrome|diabetic-bearded woman syndrome SCTID:34041001|MESH:C536013|UMLS:C0271732|GARD:0005709 https://rarediseases.info.nih.gov/diseases/5709/achard-thiers-syndrome owl:Class MONDO:0003513 biolink:NamedThing gastric teratoma A mature or immature teratoma that arises from the stomach. tmpaxzxjjyw_mondo_relaxed.owl teratoma of stomach|teratoma of the stomach|gastric teratoma|stomach teratoma DOID:5561|NCIT:C5259|UMLS:C1333790 owl:Class HGNC:14388 biolink:NamedThing GP6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015740 biolink:NamedThing trisomy 18p Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy. tmpaxzxjjyw_mondo_relaxed.owl chromosome 18p duplication|Duplication of the short arm of chromosome 18|trisomy type 18p|18p duplication|Duplication 18p|partial trisomy 18p|trisomy of the short arm of chromosome 18|18p trisomy Orphanet:1715|GARD:0005323|ICD10:Q92.2|MESH:C538307 owl:Class MONDO:0016951 biolink:NamedThing partial trisomy/tetrasomy of the short arm of chromosome 18 tmpaxzxjjyw_mondo_relaxed.owl partial duplication/triplication of the short arm of chromosome 18|partial trisomy/tetrasomy of the short arm of chromosome type 18|partial trisomy/tetrasomy of chromosome 18p|partial duplication/triplication of chromosome 18p Orphanet:262812 owl:Class CHEBI:25698 biolink:NamedThing ether An organooxygen compound with formula ROR, where R is not hydrogen. tmpaxzxjjyw_mondo_relaxed.owl ethers|ether owl:Class MONDO:0006793 biolink:NamedThing hyperpituitarism Disease of the glandular, anterior portion of the pituitary (pituitary gland, anterior) resulting in hypersecretion of adenohypophyseal hormones such as growth hormone; prolactin; thyrotropin; luteinizing hormone; follicle stimulating hormone ; and adrenocorticotropic hormone. Hyperpituitarism usually is caused by a functional adenoma. tmpaxzxjjyw_mondo_relaxed.owl DOID:2444|ICD9:253.1|MESH:D006964|UMLS:C0020506|SCTID:10649000|EFO:1000973|MedDRA:10020716 owl:Class HGNC:4696 biolink:NamedThing GUSB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008111 biolink:NamedThing oculodentodigital dysplasia Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities. tmpaxzxjjyw_mondo_relaxed.owl oculodentodigital dysplasia|ODDD|odd syndrome|ODDD syndrome|Meyer-Schwickerath syndrome|oculodentodigital syndrome|oculo-dento-digital dysplasia|oculodentoosseous dysplasia|oculo-dento-digital syndrome OMIM:164200|DOID:0060291|Orphanet:2710|MESH:C563160|OMIM:257850|MedDRA:10063691|GARD:0007239|SCTID:38215007|ICD9:759.89|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia owl:Class MONDO:0010385 biolink:NamedThing X-linked lymphoproliferative disease due to XIAP deficiency A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2. tmpaxzxjjyw_mondo_relaxed.owl Xiap deficiency|XIAP deficiency|lymphoproliferative syndrome, X-linked, 2|X-linked lymphoproliferative disease due to XIAP deficiency|XIAP deficiency/XLPs|XIAP-related lymphoproliferative disease, X-linked|lymphoproliferative syndrome, X-linked, type 2|XLP2|X-linked lymphoproliferative syndrome type 2 OMIM:300635|Orphanet:538934|NCIT:C126295|Orphanet:2442|DOID:0060706|ICD10:D82.3|MESH:C564469|GARD:0010916|UMLS:C1845076 https://rarediseases.info.nih.gov/diseases/10916/x-linked-lymphoproliferative-syndrome-2 owl:Class HGNC:3330 biolink:NamedThing EML1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6681 biolink:NamedThing Malacostraca tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2172821 biolink:NamedThing Multicrustacea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0011120 biolink:NamedThing laryngeal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012650 biolink:NamedThing gastroduodenal junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:1100000 biolink:NamedThing digestive tract junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002304 biolink:NamedThing protein S deficiency Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals havean increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiencyare those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot. tmpaxzxjjyw_mondo_relaxed.owl Protein S deficiency disease|Protein S deficiency UMLS:C0242666|MESH:D018455|SCTID:1563006|DOID:2451|ICD10:D68.59|HGNC:9456|ICD9:289.81|NCIT:C99026|GARD:0004524 Editor note: TODO axiomatize https://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency owl:Class MONDO:0002305 biolink:NamedThing thrombophilia A condition characterized by an abnormally high level of thrombi. Causes include thrombotic thrombocytopenic purpura, disseminated intravascular coagulation, bone marrow disorders, and antiphospholipid antibody syndrome. tmpaxzxjjyw_mondo_relaxed.owl hypercoagulable|hypercoagulability state|hypercoagulability|excessive blood clotting DOID:2452|MESH:D019851|UMLS:C0398623|Orphanet:64738|ICD10:D68.59|SCTID:234467004|ICD9:286.9|NCIT:C84479 owl:Class HGNC:2263 biolink:NamedThing COX15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002085 biolink:NamedThing benign shuddering attacks tmpaxzxjjyw_mondo_relaxed.owl ICD9:333.93|UMLS:C0375200|DOID:1713|ICD10:G25.83|SCTID:446995005 owl:Class GO:0044093 biolink:NamedThing positive regulation of molecular function Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015610 biolink:NamedThing acquired aplastic anemia An instance of aplastic anemia that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired aplastic anemia|rare acquired aplastic anemia SCTID:55907008|ICD10:D61.2|Orphanet:164823|UMLS:C0271907|ICD10:D61.1|EFO:0006926 owl:Class PATO:0001171 biolink:NamedThing elastic An elasticity quality inhering in a bearer by virtue of the bearer's ability to recover its size and shape after deformation in any way. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001031 biolink:NamedThing elasticity A physical quality inhering in a bearer by virtue of the bearer's disposition to recover its size and shape after deformation in any way. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009934 biolink:NamedThing alveolar capillary dysplasia with misalignment of pulmonary veins A rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension. tmpaxzxjjyw_mondo_relaxed.owl pulmonary hypertension, familial persistent of the newborn|alveolar capillary dysplasia with misalignment of pulmonary veins and Other congenital anomalies|alveolar capillary dysplasia with misalignment of pulmonary veins|alveolar capillary dysplasia with misalignment of pulmonary vessels|congenital alveolar capillary dysplasia with misalignment of pulmonary veins|alveolar capillary dysplasia|fetal circulation|ACDMPV|alveolar capillary dysplasia with pulmonary venous misalignment|persistent pulmonary hypertension of the newborn|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies|congenital alveolar capillary dysplasia|familial persistent pulmonary hypertension of the newborn|persistent fetal circulation MESH:D010547|UMLS:C0031190|ICD9:747.49|OMIM:265380|DOID:13042|SCTID:447275002|EFO:1001103|NCIT:C98809|ICD10:P29.3|MedDRA:10054726|GARD:0008644|Orphanet:210122|ICD9:747.83|MESH:C536590 Editor note: MESH and NCIT split this, see NCIT:C98809 https://rarediseases.info.nih.gov/diseases/8644/alveolar-capillary-dysplasia owl:Class MONDO:0000415 biolink:NamedThing adolescence-adult electroclinical syndrome An electroclinical syndrome with onset in adolescence and adulthood. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050705 owl:Class MONDO:0000295 biolink:NamedThing acanthocephaliasis An disease or disorder caused by infection with Acanthocephala. tmpaxzxjjyw_mondo_relaxed.owl infection by thorny-headed worm|disease caused by Acanthocephala|Acanthocephala caused disease or disorder|disease due to Acanthocephala|Acanthocephala infectious disease|Acanthocephala disease or disorder|infection by Acanthocephala DOID:0050254|SCTID:105713003|UMLS:C0277331 owl:Class MONDO:0004428 biolink:NamedThing alveoli adenoma A benign, well circumscribed lung neoplasm morphologically characterized by the presence of cystic spaces resembling alveoli, lined by a simple cuboidal epithelium. The cystic spaces are surrounded by a spindle cell stroma which may show myxoid changes. It is a solitary, usually peripheral lung lesion. Patients are usually asymptomatic and its discovery is an incidental finding during chest X-ray examination. Surgical excision is curative. tmpaxzxjjyw_mondo_relaxed.owl alveolar adenoma|adenoma, bronchioloalveolar, benign|adenoma of the alveoli|adenoma of alveoli|alveolar adenoma (morphologic abnormality) DOID:8003|ICDO:8251/0|UMLS:C0334303|NCIT:C4140 owl:Class GO:0090304 biolink:NamedThing nucleic acid metabolic process Any cellular metabolic process involving nucleic acids. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007114 biolink:NamedThing angel-shaped phalango-epiphyseal dysplasia Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age. tmpaxzxjjyw_mondo_relaxed.owl Angel shaped phalangoepiphyseal dysplasia|ASPED|ANGEL-SHAPED PHALANGOEPIPHYSEAL dysplasia MESH:C536361|ICD10:Q78.8|OMIM:105835|SCTID:720984008|Orphanet:63442|GARD:0000671|MedDRA:10066017 owl:Class MONDO:0014927 biolink:NamedThing Joubert syndrome 27 Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene. tmpaxzxjjyw_mondo_relaxed.owl B9D1 Joubert syndrome|JBTS27|Joubert syndrome 27|Joubert syndrome caused by mutation in B9D1|Joubert syndrome type 27 UMLS:C4310706|DOID:0110996|OMIM:617120 owl:Class MONDO:0002858 biolink:NamedThing ovary rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries. tmpaxzxjjyw_mondo_relaxed.owl rhabdomyosarcoma (disease) of ovary|ovary rhabdomyosarcoma (disease)|ovarian rhabdomyosarcoma|rhabdomyosarcoma of the ovary|rhabdomyosarcoma of ovary UMLS:C1335176|DOID:4059|NCIT:C5236 owl:Class MONDO:0002225 biolink:NamedThing ovarian sarcoma A rare, aggressive malignant mesenchymal neoplasm that arises from the ovary. The prognosis is poor. tmpaxzxjjyw_mondo_relaxed.owl ovary sarcoma|sarcoma of the ovary|ovarian sarcoma|sarcoma of ovary DOID:2146|UMLS:C0280746|NCIT:C8267|SCTID:423627007 owl:Class UBERON:0003338 biolink:NamedThing ganglion of peripheral nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014332 biolink:NamedThing hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency tmpaxzxjjyw_mondo_relaxed.owl hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency|CA-VA deficiency|CA5AD|carbonic anhydrase VA deficiency|carbonic anhydrase VA deficiency, hyperammonemia due to|hyperammonemia due to carbonic anhydrase VA deficiency|mitochondrial carbonic anhydrase va deficiency|carbonic anhydrase 5A deficiency, hyperammonemia due to UMLS:C3810404|Orphanet:401948|SCTID:764456001|GARD:0013201|OMIM:615751|ICD10:E74.8 owl:Class MONDO:0008272 biolink:NamedThing polysyndactyly 4 Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present. tmpaxzxjjyw_mondo_relaxed.owl PPD4|polydactyly preaxial 4|crossed polydactyly type 1|polysyndactyly, uncomplicated|polydactyly, preaxial type 4|preaxial polydactyly type 4|polydactyly, preaxial 4|polysyndactyly uncomplicated|preaxial polydactyly 4|polydactyly, preaxial IV|crossed polydactyly, type 1 GARD:0009903|MedDRA:10063143|NCIT:C125597|UMLS:C1868111|UMLS:C0265553|GARD:0001616|Orphanet:93338|ICD10:Q70.4|ICD9:755.10|OMIM:174700|SCTID:84598000 https://rarediseases.info.nih.gov/diseases/1616/crossed-polydactyly-type-1 owl:Class HGNC:330 biolink:NamedThing AGRP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008751 biolink:NamedThing corticosterone methyloxidase type 1 deficiency tmpaxzxjjyw_mondo_relaxed.owl 18-hydroxylase deficiency|18-hydroxycorticosterone dehydrogenase deficiency|aldosterone deficiency due to defect in 18 hydroxylase|aldosterone deficiency due to 18-hydroxysteroid dehydrogenase deficiency|hyperreninemic hypoaldosteronism, familial, 1|CMO I deficiency|corticosterone methyl oxidase type II deficiency|corticosterone methyloxidase type 1 deficiency|CAH - 18-hydroxylase deficiency|18 Hydroxylase deficiency|CMO II deficiency|corticosterone 18-monooxygenase deficiency|corticosterone methyloxidase type I deficiency|18-Hydroxylase deficiency|CMO 1 deficiency|18 alpha hydroxylase deficiency|aldosterone deficiency due to defect in steroid 18-Hydroxylase|steroid 18-hydroxylase deficiency|aldosterone deficiency due to 18-hydroxylase defect|corticosterone methyl oxidase type I deficiency|aldosterone deficiency 1 OMIM:203400|SCTID:47757001|Orphanet:427|Orphanet:99763|GARD:0005660|DOID:0080626|UMLS:CN074214 https://rarediseases.info.nih.gov/diseases/5660/18-hydroxylase-deficiency owl:Class MONDO:0012679 biolink:NamedThing autosomal recessive osteopetrosis 6 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive osteopetrosis type 6|autosomal recessive osteopetrosis intermediate form|osteopetrosis (disease) caused by mutation in PLEKHM1|PLEKHM1 osteopetrosis (disease)|osteopetrosis autosomal recessive 6|osteopetrosis, autosomal recessive 6|autosomal recessive intermediate osteopetrosis|osteopetrosis autosomal recessive intermediate form|intermediate osteopetrosis|osteopetrosis, autosomal recessive, Intermediate form|osteopetrosis, autosomal recessive type 6|OPTB6 UMLS:C1969093|DOID:0110945|OMIM:611497|MESH:C566931|Orphanet:210110|GARD:0004156|ICD10:Q78.2 https://rarediseases.info.nih.gov/diseases/4156/osteopetrosis-autosomal-recessive-6 owl:Class MONDO:0000471 biolink:NamedThing tricuspid valve disorder A disease involving the tricuspid valve. tmpaxzxjjyw_mondo_relaxed.owl disease or disorder of tricuspid valve|rheumatic tricuspid valve disease|tricuspid disease|tricuspid valve disorder|tricuspid valve disease|rheumatic disease of tricuspid valve|tricuspid valve disease or disorder|disease of tricuspid valve|RH. tricuspid valve disease|disorder of tricuspid valve UMLS:C0264776|ICD10:I07.9|NCIT:C78649|UMLS:C0264882|ICD10:I07|ICD9:397.0|DOID:0050826|SCTID:20721001 owl:Class GO:0031329 biolink:NamedThing regulation of cellular catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular breakdown|regulation of cellular degradation|regulation of cellular catabolism owl:Class MONDO:0020460 biolink:NamedThing acquired von willebrand syndrome Acquired von Willebrand syndrome (AVWS) is a bleeding disorder marked by the same biological anomalies as those seen in hereditary von Willebrand disease (VWD) but which occurs in association with another underlying pathology, generally in elderly patients without any personal or family history of bleeding anomalies. tmpaxzxjjyw_mondo_relaxed.owl acquired von Willebrand disease (hereditary or acquired)|acquired von willebrand disease|Willebrand disease, acquired|acquired von Willebrand disease|AVWS GARD:0005573|GARD:5573|UMLS:C0272362|ICD10:D68.4|MedDRA:10069495|DOID:0111146|SCTID:234451005|Orphanet:99147|PMID:28028990|MEDDRA:10069495 https://rarediseases.info.nih.gov/diseases/5573/acquired-von-willebrand-syndrome owl:Class MONDO:0024574 biolink:NamedThing von Willebrand disease (hereditary or acquired) Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding. tmpaxzxjjyw_mondo_relaxed.owl VWD|von Willebrand disease|von Willebrand's disease|von Willebrand disorder SCTID:128105004|ICD9:286.4|MESH:D014842|ICD10:D68.0|UMLS:C0042974|NCIT:C68677 owl:Class MONDO:0010731 biolink:NamedThing Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk. tmpaxzxjjyw_mondo_relaxed.owl Sara Angers syndrome|SDYS|Sgbs|X-linked dysplasia gigantism syndrome|SGBS|dysplasia gigantism syndrome, X-linked|DGSX|Golabi-Rosen syndrome|SGB syndrome|Simpson-Golabi-Behmel syndrome OMIM:300209|NCIT:C131002|GARD:0007649|MESH:C537340|ICD9:759.89|SCTID:439143004|Orphanet:373|ICD10:Q87.3 https://rarediseases.info.nih.gov/diseases/7649/simpson-golabi-behmel-syndrome owl:Class MONDO:0025159 biolink:NamedThing pneumonia of swine, mycoplasmal A chronic, clinically mild, infectious pneumonia of pigs caused by mycoplasma hyopneumoniae. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. pasteurella multocida is often found as a secondary infection. tmpaxzxjjyw_mondo_relaxed.owl swine Mycoplasma pneumonia|Mycoplasmal pneumonia of swine|Mycoplasma pneumonia of swine|swine Mycoplasmal pneumonia|enzootic pneumonia of pigs|Mycoplasma pneumonia of pigs|pneumonia of swine, enzootic|enzootic pneumonia of swine|swine enzootic pneumonia MESH:D045729|UMLS:C1258090 owl:Class MONDO:0008356 biolink:NamedThing radial heads, posterior dislocation of tmpaxzxjjyw_mondo_relaxed.owl radial heads, posterior dislocation of OMIM:179200|MESH:C566728|UMLS:C1867398 owl:Class MONDO:0013124 biolink:NamedThing pelvic organ prolapse, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl Pvop2|pelvic organ prolapse, susceptibility to, type 2|pelvic organ prolapse, susceptibility to, 2 OMIM:613088 owl:Class UBERON:0000428 biolink:NamedThing prostate epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0031594 biolink:NamedThing neuromuscular junction The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. tmpaxzxjjyw_mondo_relaxed.owl NMJ|motor endplate owl:Class MONDO:0004685 biolink:NamedThing Waldeyer's ring cancer A malignant neoplasm involving the tonsillar ring. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of Waldeyer's ring|Waldeyer ring cancer|malignant neoplasm of tonsillar ring|tonsillar ring cancer|cancer of tonsillar ring|malignant neoplasm of Waldeyer's ring|malignant tonsillar ring neoplasm DOID:8937|UMLS:C0153406|SCTID:187716008|ICD10:C14.2|ICD9:149.1 owl:Class MONDO:0023076 biolink:NamedThing eosinophilic pustular folliculitis Eosinophilic pustular folliculitis (EPF) is a skin disorder characterized by recurring itchy, red or skin-colored bumps and pustules (bumps containing pus). The condition is named after the fact that skin biopsies of this disorder find eosinophils (a type of immune cell) around hair follicles. The papules mostly appear on the face, scalp, neck and trunk and may persist for weeks or months. EPF affects males more than females.There are several variants of EPF includingclassic eosinophilic pustular folliculitis (mainly occurring in adults in Japan); HIV-associated EPF, also referred to as immunosuppression-associated EPF; and infantile EPF (with onset from birth or within the first year of life). Whether these are distinct disorders rather than variants of one disorder is controversial, partly because the underlying cause of EFP is not known.Several treatments have been described with variable results, including various oral or topical medications and phototherapy. In patients with HIV-associated disease, antiretroviral therapy tends to greatly diminish symptoms or even eliminate the condition. tmpaxzxjjyw_mondo_relaxed.owl eosinophilic folliculitis|eosinophilic folliculitis, pustular|Ofuji disease|Ofuji's disease|EPF UMLS:C0406305|SCTID:95333004|ICD9:704.8|GARD:0008534|MESH:C535953 https://rarediseases.info.nih.gov/diseases/8534/eosinophilic-pustular-folliculitis owl:Class MONDO:0017390 biolink:NamedThing methylmalonic acidemia without homocystinuria Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase. tmpaxzxjjyw_mondo_relaxed.owl methylmalonic acidemia without homocystinuria|methylmalonic aciduria without homocystinuria 2022-03-01 ICD10:E71.1|Orphanet:293355 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: methylmalonic acidemia' MONDO_0002012 owl:Class UBERON:0003303 biolink:NamedThing roof plate of medulla oblongata tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008746 biolink:NamedThing oculocutaneous albinism type 2 Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm. tmpaxzxjjyw_mondo_relaxed.owl oculocutaneous albinism, type 2|OCA2|Brown oculocutaneous albinism|Albinoidism|oculocutaneous albinism type 2|oculocutaneous albinism type II|albinism, Brown oculocutaneous|albinism, oculocutaneous, type II|albinism, oculocutaneous, type 2|oculocutaneous albinism tyrosinase positive|tyrosinase-positive oculocutaneous albinism|albinism 2|oculocutaneous albinism, tyrosinase-positive Orphanet:79432|UMLS:C0268495|DOID:0070096|MESH:C537730|GARD:0004038|OMIM:203200|ICD10:E70.3 https://rarediseases.info.nih.gov/diseases/4038/oculocutaneous-albinism-type-2 owl:Class MONDO:0014880 biolink:NamedThing Duane retraction syndrome 3 with or without deafness Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion. tmpaxzxjjyw_mondo_relaxed.owl MAFB Duane retraction syndrome|Duane retraction syndrome 3 with or without deafness|DURS3|Duane syndrome type 3|Duane retraction syndrome caused by mutation in MAFB|Duane retraction syndrome 3 OMIM:126800|UMLS:C4310752|GARD:0010691|Orphanet:233|OMIM:617041 https://rarediseases.info.nih.gov/diseases/10691/duane-syndrome-type-3 owl:Class MONDO:0002250 biolink:NamedThing basilar artery insufficiency A syndrome which occurs as a result of the occlusion of the basilar artery. It may be caused by atherosclerosis, embolism or hemorrhage. Clinical signs include dizziness, headache, vomiting, hemiparesis or hemiplegia, dysarthria, dysphagia, blurred vision and loss of consciousness. The clinical course is variable and is dependent upon the extent of the occlusion and the location of the clot along the basilar artery which determines the resultant neurologic impairment. Prognosis is dismal in cases where a complete occlusion occurs with rapid deterioration of neurological function. tmpaxzxjjyw_mondo_relaxed.owl basilar artery syndrome SCTID:64009001|ICD9:435.0|DOID:223|UMLS:C0004812|NCIT:C34413 owl:Class MONDO:0008555 biolink:NamedThing thrombocytopenia 2 An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability. tmpaxzxjjyw_mondo_relaxed.owl thrombocytopenia, autosomal dominant, 2|thrombocytopenia autosomal dominant 2|thrombocytopenia type 2|thrombocytopenia 2|THC2 MESH:C536519|GARD:0005191|Orphanet:168629|NCIT:C129035|Orphanet:268322|OMIM:188000 https://rarediseases.info.nih.gov/diseases/5191/thrombocytopenia-2 owl:Class GO:0032229 biolink:NamedThing negative regulation of synaptic transmission, GABAergic Any process that stops, prevents, or reduces the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). tmpaxzxjjyw_mondo_relaxed.owl downregulation of synaptic transmission, GABAergic|down-regulation of synaptic transmission, GABAergic|down regulation of synaptic transmission, GABAergic|inhibition of synaptic transmission, GABAergic owl:Class GO:0002674 biolink:NamedThing negative regulation of acute inflammatory response Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl down regulation of acute inflammatory response|down-regulation of acute inflammatory response|downregulation of acute inflammatory response|inhibition of acute inflammatory response owl:Class UBERON:0001027 biolink:NamedThing sensory nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045121 biolink:NamedThing membrane raft Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. tmpaxzxjjyw_mondo_relaxed.owl glycolipid-enriched membrane domain|lipid raft|GEM domain owl:Class GO:0098857 biolink:NamedThing membrane microdomain A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000104 biolink:NamedThing anemia, hypochromic microcytic with iron overload tmpaxzxjjyw_mondo_relaxed.owl anemia, hypochromic microcytic, with iron overload UMLS:C2673913|OMIMPS:206100|MESH:C567144 owl:Class MONDO:0004787 biolink:NamedThing cervical mullerian papilloma A rare, benign, papillary neoplasm that arises from the cervix. It is characterized by the presence of a fibrovascular core covered by mucinous epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl cervical Müllerian papilloma|cervical Muellerian papilloma|cervical Mullerian papilloma UMLS:C1516427|NCIT:C40215|DOID:9442 owl:Class MONDO:0008000 biolink:NamedThing migraine with or without aura, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl migraine|Mgau|migraine with or without aura, susceptibility to, type 1|Mgr1|migraine with or without aura, susceptibility to, 1 OMIM:157300|ICD9:346.80|SCTID:37796009|ICD9:346.90 owl:Class MONDO:0100221 biolink:NamedThing IFAP syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl IFAP2|ichthyosis follicularis, atrichia, and photophobia syndrome 2|IFAP SYNDROME 2 OMIM:619016 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013221 biolink:NamedThing Miyoshi muscular dystrophy 2 tmpaxzxjjyw_mondo_relaxed.owl MMD2|Miyoshi muscular dystrophy 2|MIYOSHI muscular dystrophy 2|Miyoshi myopathy 2 MESH:C567646|Orphanet:45448|OMIM:613318|UMLS:C2750077|DOID:0070200 owl:Class MONDO:0012975 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 3B Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant 3B|deafness, autosomal dominant type 3B|GJB6 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 3B|autosomal dominant nonsyndromic deafness caused by mutation in GJB6|autosomal dominant nonsyndromic deafness 3B|DFNA3B|autosomal dominant deafness 3B UMLS:C2675237|DOID:0110565|MESH:C567215|OMIM:612643|ICD10:H90.3 owl:Class HGNC:8516 biolink:NamedThing OTOG tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004241 biolink:NamedThing main bronchus smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:4858 biolink:NamedThing Basidiobolaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1264872 biolink:NamedThing Basidiobolales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class PO:0009087 biolink:NamedThing mesocarp A portion of plant tissue (PO:0009007) that is the middle layer of a pericarp (PO:0009084). tmpaxzxjjyw_mondo_relaxed.owl 中果皮 (Japanese, exact)|albedo (related)|mesocarpo (Spanish, exact)|portion of mesocarp tissue (exact) PO_GIT:149|PO_GIT:511 plant_anatomy owl:Class CL:0002030 biolink:NamedThing Fc-epsilon RIalpha-high basophil progenitor cell A lineage negative, Sca1-negative basophil progenitor cell that is Fc epsilon RIalpha-high. tmpaxzxjjyw_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-04-27T01:22:32Z cell owl:Class MONDO:0014876 biolink:NamedThing intellectual disability, autosomal recessive 54 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK|MRT54|TNIK autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 54|mental retardation, autosomal recessive 54|mental retardation, autosomal recessive type 54|intellectual disability, autosomal recessive type 54 UMLS:C4310755|OMIM:617028 owl:Class MONDO:0020211 biolink:NamedThing syndromic keratoconus A keratoconus (disease) that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic keratoconus (disease)|syndrome associated with keratoconus (disease) UMLS:CN227821|Orphanet:98623 owl:Class MONDO:0007768 biolink:NamedThing hyperparathyroidism 2 with jaw tumors An autosomal dominant inherited syndrome characterized by the development of parathyroid adenoma or carcinoma, ossifying fibroma of the mandible and maxilla, renal neoplasms, and renal cysts. tmpaxzxjjyw_mondo_relaxed.owl hyperparathyroidism type 2|HRPT2|parathyroid adenomatosis, familial cystic|hyperparathyroidism-2|hyperparathyroidism 2|hereditary hyperparathyroidism-jaw tumor syndrome|hyperparathyroidism-jaw tumor syndrome, hereditary|HPT-JT|familial primary hyperparathyroidism with multiple ossifying jaw fibromas|hyperparathyroidism 2 with jaw tumors|hyperparathyroidism-jaw tumor syndrome|hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas NCIT:C48287|SCTID:702378002|ICD10:E21.0|Orphanet:99880|UMLS:C1704981|OMIM:145001|GARD:0010829 https://rarediseases.info.nih.gov/diseases/10829/hyperparathyroidism-jaw-tumor-syndrome owl:Class GO:0048819 biolink:NamedThing regulation of hair follicle maturation Any process that modulates the frequency, rate or extent of hair follicle maturation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011458 biolink:NamedThing Abdominal symptom A subjective manifestation of disease localized to the abdomen. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0740651 peter 2012-03-25T05:35:45Z human_phenotype owl:Class GO:0043574 biolink:NamedThing peroxisomal transport Transport of substances into, out of or within a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060489 biolink:NamedThing 46,XX sex reversal 4 tmpaxzxjjyw_mondo_relaxed.owl 46,XX Sex reversal, Sry-Negative|46,XX SEX reversal 4|SRXX4 DOID:0111764|OMIM:617480 owl:Class MONDO:0012433 biolink:NamedThing Senior-Loken syndrome 6 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene. tmpaxzxjjyw_mondo_relaxed.owl CEP290 Senior-Loken syndrome|SENIOR-Loken syndrome 6|Senior-Loken syndrome caused by mutation in CEP290|Senior-Loken syndrome 6|SLSN6|Senior-Loken syndrome type 6 OMIM:610189|Orphanet:3156|UMLS:C1857779|MESH:C565708 owl:Class MONDO:0100451 biolink:NamedThing CEP290-related ciliopathy A ciliopathy caused by biallelic variants in the CEP290 gene. tmpaxzxjjyw_mondo_relaxed.owl CEP290 Leber congenital amaurosis|SENIOR-Loken syndrome 6|BBS14|Meckel-Gruber syndrome, type 4|CEP290 Meckel syndrome|Senior-Loken syndrome 6|CEP290 Joubert syndrome|Senior-Loken syndrome caused by mutation in CEP290|amaurosis congenita of Leber, type 10|Bardet-Biedl syndrome type 14|JBTS5|Meckel-like Cerebrorenodigital syndrome|Joubert syndrome caused by mutation in CEP290|Senior-Loken syndrome type 6|Meckel syndrome 4|Leber congenital amaurosis caused by mutation in CEP290|CEP290 ciliopathy|LCA10|Joubert syndrome type 5|Joubert syndrome 5|Leber congenital amaurosis type 10|Meckel syndrome caused by mutation in CEP290|Bardet-Biedl syndrome 14|CEP290 Senior-Loken syndrome|SLSN6|Leber congenital amaurosis 10|Meckel syndrome, type 4|MKS4 owl:Class HGNC:2210 biolink:NamedThing COL5A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010245 biolink:NamedThing X-linked cone-rod dystrophy 2 tmpaxzxjjyw_mondo_relaxed.owl CORDX2|COD2|cone dystrophy X-linked 2|cone dystrophy 2, X-linked|X-linked cone dystrophy 2|cone-rod dystrophy X-linked 2|cone-rod dystrophy, X-linked, 2|X-linked cone-rod dystrophy type 2 DOID:0111006|GARD:0001462|MESH:C564717|OMIM:300085 https://rarediseases.info.nih.gov/diseases/1462/cone-rod-dystrophy-x-linked-2 owl:Class MONDO:0044972 biolink:NamedThing eosinophil disorder A disease or disorder that involves the eosinophil. tmpaxzxjjyw_mondo_relaxed.owl disease of eosinophil|disease or disorder of eosinophil|eosinophil disease or disorder|disorder of eosinophil SCTID:417967008|UMLS:C1691020 owl:Class GO:0032222 biolink:NamedThing regulation of synaptic transmission, cholinergic Any process that modulates the frequency, rate or extent of cholinergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter acetylcholine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015666 biolink:NamedThing familial idiopathic dilatation of the right atrium Idiopathic dilatation of the right atrium (IDRA) is a rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications. tmpaxzxjjyw_mondo_relaxed.owl familial idiopathic dilatation of the right atrium (disease) familial idiopathic dilatation of the right atrium (disease) ICD10:Q20.8|SCTID:716773002|Orphanet:1677|UMLS:CN200093 owl:Class MONDO:0016993 biolink:NamedThing generalized peeling skin syndrome type C tmpaxzxjjyw_mondo_relaxed.owl generalized deciduous skin type C|peeling skin syndrome type C UMLS:CN202307|ICD10:Q80.8|Orphanet:263558 owl:Class GO:0010604 biolink:NamedThing positive regulation of macromolecule metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100071 biolink:NamedThing cardiocutaneous syndrome Cardiocutaneous syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern and autosomal recessive, which may lead to earlier and/or more severe phenotypic presentation. tmpaxzxjjyw_mondo_relaxed.owl 2019-01-18 17:28:41+00:00 owl:Class FOODON:03412215 biolink:NamedThing mud crab family Mud crab may refer to any crab that lives in or near mud, such as: species from family *Portunidae*, such as *Scylla serrata*; *Scylla tranquebarica*; *Scylla paramamosain*; members of the family *Panopeidae*, such as *Panopeus herbstii*; members of the family *Xanthidae*; *Helice crassa*, the tunnelling mud crab. [https://en.wikipedia.org/wiki/Mud_crab] tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:8300003 biolink:NamedThing right hindlimb tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060585 biolink:NamedThing neuronopathy, distal hereditary motor, type 9 tmpaxzxjjyw_mondo_relaxed.owl HMN9|neuropathy, distal hereditary motor, type 9|neuronopathy, distal hereditary motor, type IX OMIM:617721|UMLS:C4540265|DOID:0111212 owl:Class HGNC:6859 biolink:NamedThing MAP3K7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:23354 biolink:NamedThing coenzyme A low-molecular-weight, non-protein organic compound participating in enzymatic reactions as dissociable acceptor or donor of chemical groups or electrons. tmpaxzxjjyw_mondo_relaxed.owl coenzymes|coenzyme owl:Class MONDO:0003396 biolink:NamedThing epulis A non-neoplastic nodular lesion that arises from the gingiva. tmpaxzxjjyw_mondo_relaxed.owl gingiva polyp|epulides|polyp of gingiva|polyp of the gum|polyp of the gingiva|gum polyp|polyp of gum|gingival polyp UMLS:C0266919|SCTID:45676007|NCIT:C3948|ICD9:523.8|MESH:D005882|DOID:5337 owl:Class MONDO:0001122 biolink:NamedThing chronic maxillary sinusitis Inflammation of the maxillary sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties. tmpaxzxjjyw_mondo_relaxed.owl maxillary sinusitis, chronic|chronic antritis SCTID:35923002|ICD10:J32.0|UMLS:C0008698|DOID:10792|ICD9:473.0|NCIT:C34477 owl:Class MONDO:0005842 biolink:NamedThing maxillary sinusitis An acute or chronic inflammatory process affecting the mucous membrane of the maxillary sinus. tmpaxzxjjyw_mondo_relaxed.owl DOID:2051|MESH:D015523|UMLS:C0024959|SCTID:88348008|ICD10:J32.0|EFO:0007361|NCIT:C34809 owl:Class GO:0046136 biolink:NamedThing positive regulation of vitamin metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of vitamin metabolic process|stimulation of vitamin metabolic process|activation of vitamin metabolic process|positive regulation of vitamin metabolism|upregulation of vitamin metabolic process|up regulation of vitamin metabolic process owl:Class MONDO:0008627 biolink:NamedThing ureter cancer A malignant neoplasm involving the ureter tmpaxzxjjyw_mondo_relaxed.owl ureter cancer|malignant tumour of ureter|malignant ureter tumor|malignant neoplasm of ureter|cancer of ureter|malignant ureteral tumor|malignant ureter neoplasm|malignant neoplasm of the ureter|malignant tumor of ureter|malignant tumor of the ureter|malignant ureteral neoplasm|ureter, cancer OF MESH:D014516|DOID:11819|NCIT:C7543|SCTID:363458004|OMIM:191600|ICD10:C66|UMLS:C0153619|ICD9:189.2 owl:Class UBERON:0005881 biolink:NamedThing autopodial extension tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001672 biolink:NamedThing bronchus cancer A malignant neoplasm involving the bronchus tmpaxzxjjyw_mondo_relaxed.owl malignant bronchus neoplasm|malignant neoplasm of bronchus and lung|malignant neoplasm of bronchus or lung|malignant neoplasm of bronchus|bronchus cancer|malignant neoplasm of bronchus and lung, unspecified|cancer of bronchus ICD9:162.9|SCTID:363493006|ICD10:C34.9|ICD9:162.8|DOID:1325|ICD10:C34 owl:Class MONDO:0005581 biolink:NamedThing AVL induced bursal lymphoma Malignant lymphoma of the bursa of Fabricius, induced by avian leukosis virus occuring in birds. tmpaxzxjjyw_mondo_relaxed.owl EFO:0005923 owl:Class MONDO:0015944 biolink:NamedThing axial mesodermal dysplasia spectrum Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula. tmpaxzxjjyw_mondo_relaxed.owl Russell-Weaver-Bull syndrome|blastogenesis defect|Russell Weaver Bull syndrome Orphanet:1834|SCTID:765755006|GARD:0000213|UMLS:C2931613|MESH:C537790|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/213/axial-mesodermal-dysplasia-spectrum owl:Class MONDO:0015393 biolink:NamedThing nasal ganglioglioma Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:141115 owl:Class MONDO:0100072 biolink:NamedThing neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts Neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts is characterized by the three primary phenotypes of neonatal diabetes, congenital sensorineural hearing loss and congenital cataracts. Cases have reported additional varying phenotypes, including optic atrophy, hypothyroidism, severe neonatal hypotonia in males, developmental delay, facial abnormalities, and a few other more rare phenotypes. The severity and congenital onset of the phenotypes distinguish these patients from Wolfram-like syndrome patients. tmpaxzxjjyw_mondo_relaxed.owl 2019-01-23 23:06:10+00:00 This phenotype has been found in association with de novo heterozygous variants in WFS1. The mechanism for disease has been proposed as gain-of-function by De Franco et al 2017 (PMID:28468959). The mechanism for disease and severity of phenotype distinguish these affected individuals from Wolfram-like syndrome patients, which have also been linked to heterozygous WFS1 variants (non-de novo). owl:Class UBERON:0013719 biolink:NamedThing dartos muscle of scrotum tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904677 biolink:NamedThing positive regulation of somatic stem cell division Any process that activates or increases the frequency, rate or extent of somatic stem cell division. tmpaxzxjjyw_mondo_relaxed.owl upregulation of somatic stem cell renewal|positive regulation of somatic stem cell renewal|up regulation of somatic stem cell division|up regulation of somatic stem cell renewal|activation of somatic stem cell division|up-regulation of somatic stem cell division|activation of somatic stem cell renewal|up-regulation of somatic stem cell renewal|upregulation of somatic stem cell division owl:Class GO:0051781 biolink:NamedThing positive regulation of cell division Any process that activates or increases the frequency, rate or extent of cell division. tmpaxzxjjyw_mondo_relaxed.owl upregulation of cell division|up-regulation of cell division|stimulation of cell division|activation of cell division|up regulation of cell division owl:Class MONDO:0030925 biolink:NamedThing oocyte maturation defect 10 tmpaxzxjjyw_mondo_relaxed.owl OOMD10|oocyte maturation defect 10 OMIM:619176 owl:Class MONDO:0007604 biolink:NamedThing femoral-facial syndrome Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies. tmpaxzxjjyw_mondo_relaxed.owl femoral hypoplasia unusual facies syndrome|FFS|femoral-facial syndrome|femoral facial syndrome|femoral hypoplasia-unusual facies syndrome|femoral dysgenesis, bilateral|FHUFS OMIM:134780|ICD9:759.89|SCTID:13280000|ICD10:Q87.8|GARD:0000061|Orphanet:1988|MESH:C537916 https://rarediseases.info.nih.gov/diseases/61/femoral-facial-syndrome owl:Class GO:0006572 biolink:NamedThing tyrosine catabolic process The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. tmpaxzxjjyw_mondo_relaxed.owl tyrosine catabolism|tyrosine breakdown|tyrosine degradation owl:Class CL:1000303 biolink:NamedThing fibroblast of areolar connective tissue A fibroblast that is part of the areolar connective tissue. tmpaxzxjjyw_mondo_relaxed.owl FMA:261279 cell owl:Class MONDO:0005944 biolink:NamedThing Rhabdoviridae infectious disease Virus diseases caused by rhabdoviridae. Important infections include rabies; ephemeral fever; and vesicular stomatitis. tmpaxzxjjyw_mondo_relaxed.owl Rhabdoviridae infection|infection, Rhabdoviridae|infections, Rhabdoviridae EFO:0007469|UMLS:C0206751|MESH:D018353 owl:Class MONDO:0007020 biolink:NamedThing Wernicke encephalopathy An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. thiamine deficiency and chronic alcoholism are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to korsakoff syndrome. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3) tmpaxzxjjyw_mondo_relaxed.owl dementia due to thiamine deficiency|Wernicke's encephalopathy|Wernicke's disease UMLS:C0043121|ICD10:E51.2|SCTID:21007002|Orphanet:97354|EFO:1001241|MESH:D014899|DOID:2384|ICD9:265.1 owl:Class MONDO:0000654 biolink:NamedThing benign connective and soft tissue neoplasm A non-metastasizing neoplasm that arises from the connective and soft tissue. Representative examples include lipoma, leiomyoma, fibroma, and osteoma. tmpaxzxjjyw_mondo_relaxed.owl benign mesenchymal cell neoplasm|benign connective and soft tissue tumor|benign tumor of the soft tissue and bone|neoplasm of soft tissue|tumor of the soft tissue|neoplasm of soft tissues|soft tissue benign neoplasm|connective tissue benign neoplasm|benign connective and soft tissue neoplasm|connective and soft tissue neoplasm, benign|benign neoplasm of the soft tissue and bone DOID:0060123|NCIT:C53684|NCIT:C3377|SCTID:387837005 owl:Class MONDO:0006602 biolink:NamedThing porokeratosis A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella. tmpaxzxjjyw_mondo_relaxed.owl porokeratosis (disease)|porokeratosis porokeratosis (disease) MedDRA:10036175|OMIM:175800|SCTID:80432009|ICD9:692.75|ICD9:757.39|UMLS:C0162839|Orphanet:79358|DOID:3805|Wikipedia:Porokeratosis|ICD10:Q82.8|SCTID:41495000|OMIMPS:175800|EFO:1000757|NCIT:C85019|HP:0200044|ICD10:L56.5|SCTID:400080004 owl:Class HGNC:19263 biolink:NamedThing LMAN2L tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018957 biolink:NamedThing pudendal neuralgia Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction. tmpaxzxjjyw_mondo_relaxed.owl pudendal nerve entrapment syndrome|Pudendalgia|Alcock syndrome|pudendal nerve neuralgia|neuralgia of pudendal nerve|pudendal neuralgia by pudendal nerve entrapment|pudendal algia UMLS:C1997249|GARD:0010713|MESH:D060545|UMLS:CN226268|UMLS:C3178970|Orphanet:60039|SCTID:427972000|ICD9:729.2|ICD10:M79.2 https://rarediseases.info.nih.gov/diseases/10713/pudendal-neuralgia owl:Class MONDO:0020556 biolink:NamedThing pleuropulmonary blastoma type 2 A pleuropulmonary blastoma composed of malignant small cells and characterized by the presence of a sarcomatous component. It usually follows an aggressive clinical course. tmpaxzxjjyw_mondo_relaxed.owl type II pleuropulmonary blastoma ICD10:C34.9|ICD10:C34.3|UMLS:CN207458|NCIT:C45627|ICD9:162.9|ICD10:C34.1|SCTID:707672001|ICD10:C34.8|ICD10:C34.2|Orphanet:99934 owl:Class MONDO:0012393 biolink:NamedThing congenital brain dysgenesis due to glutamine synthetase deficiency tmpaxzxjjyw_mondo_relaxed.owl congenital glutamine deficiency|glutamine synthetase deficiency, congenital systemic|congenital brain dysgenesis due to glutamine synthetase deficiency|inherited glutamine synthetase deficiency|inherited GS deficiency|glutamine deficiency, congenital|glutamine synthase deficiency, congenital systemic OMIM:610015|GARD:0009848|ICD10:E72.8|Orphanet:71278|UMLS:C1864910|MESH:C536832 owl:Class MONDO:0005759 biolink:NamedThing fascioloidiasis Infection of cattle and other herbivores with the giant liver fluke Fascioloides magna. It is characterized by extensive destruction of the liver parenchyma. tmpaxzxjjyw_mondo_relaxed.owl MESH:D005213|DOID:1217|SCTID:69550000|UMLS:C0015655|EFO:0007268 owl:Class MONDO:0015082 biolink:NamedThing alopecia antibody deficiency tmpaxzxjjyw_mondo_relaxed.owl IPP-Gelfand syndrome Orphanet:1006 owl:Class GO:1900249 biolink:NamedThing positive regulation of cytoplasmic translational elongation Any process that activates or increases the frequency, rate or extent of cytoplasmic translational elongation. tmpaxzxjjyw_mondo_relaxed.owl up regulation of cytoplasmic translational elongation|up-regulation of cytoplasmic translational elongation|activation of cytoplasmic translational elongation|upregulation of cytoplasmic translational elongation owl:Class MONDO:0008510 biolink:NamedThing symphalangism with multiple anomalies of hands and feet Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981. tmpaxzxjjyw_mondo_relaxed.owl symphalangism with multiple anomalies of hands and feet|Learman syndrome MESH:C566098|ICD10:Q74.8|OMIM:185750|Orphanet:3246|UMLS:C1861391|SCTID:732955001|GARD:0005077 https://rarediseases.info.nih.gov/diseases/5077/symphalangism-with-multiple-anomalies-of-hands-and-feet owl:Class MONDO:0044651 biolink:NamedThing early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:496756 owl:Class HGNC:2280 biolink:NamedThing COX6B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007568 biolink:NamedThing aortic aneurysm, familial thoracic 4 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MYH11 gene. tmpaxzxjjyw_mondo_relaxed.owl aortic aneurysm/aortic dissection and patent ductus arteriosus|aortic aneurysm, familial thoracic type 4|aortic aneurysm, familial thoracic 4|FAA4|AAT4|familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11|MYH11 familial thoracic aortic aneurysm and aortic dissection OMIM:132900|Orphanet:91387|UMLS:C1851504|MESH:C537784|GARD:0009876 https://rarediseases.info.nih.gov/diseases/9876/aortic-aneurysm-familial-thoracic-4 owl:Class MONDO:0004939 biolink:NamedThing hallucinogen dependence A drug dependence for a hallucinogenic substance. tmpaxzxjjyw_mondo_relaxed.owl SCTID:38247002|NCIT:C34657|DOID:9977|ICD10:F16.2|ICD9:304.5|ICD9:304.50 owl:Class MONDO:0004217 biolink:NamedThing childhood brain germinoma A germinoma arising from the brain during childhood. tmpaxzxjjyw_mondo_relaxed.owl germinoma of the childhood brain|germinoma of pediatric brain|germinoma of childhood brain|pediatric brain germinoma|germinoma of the pediatric brain|brain germinoma of childhood|pediatric brain germ cell cancer NCIT:C6207|DOID:7429|UMLS:C1332948 owl:Class MONDO:0042974 biolink:NamedThing parainfluenza virus type 3 infectious disease Parainfluenza virus type 3 is one of a group of common viruses known as human parainfluenza viruses (HPIV) that cause a variety of respiratory illnesses. Symptoms usually develop between 2 and 7 days from the time of exposure and typically resolve in 7-10 days. Symptoms may include fever, runny nose, and cough. HPIV-3 can also cause bronchiolitis, bronchitis, and pneumonia. Infants and young children are particularly susceptible to HPIV-3 infections, though older adults and those with a weakened immune system are also at risk for complications. HPIVs are usually spread from an infected person to others through coughing, sneezing, and/or touching. There is currently no vaccine to protect against parainfluenza virus infections. Most HPIV infections resolve on their own and do not require special treatment, though medical intervention may be necessary for severe breathing problems. Most adults have antibodies against parainfluenza but can get repeat infections. tmpaxzxjjyw_mondo_relaxed.owl human respirovirus 3 infectious disease|PIV3|human parainfluenza virus type 3|infection due to parainfluenza virus 3|infection caused by parainfluenza virus 3|infection caused by human parainfluenza virus 3|human respirovirus 3 caused disease or disorder|human respirovirus 3 disease or disorder|infection due to human parainfluenza virus 3 GARD:0004215|SCTID:30270006|ICD9:079.89|UMLS:C0276324|OMOP:4147524 owl:Class MONDO:0005940 biolink:NamedThing respirovirus infectious disease Infections with viruses of the genus respirovirus, family paramyxoviridae. Host cell infection occurs by adsorption, via hemagglutinin, to the cell surface. tmpaxzxjjyw_mondo_relaxed.owl infections, Respirovirus MESH:D010253|UMLS:C3714630|EFO:0007465 owl:Class MONDO:0013170 biolink:NamedThing cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13 tmpaxzxjjyw_mondo_relaxed.owl cutis laxa with Severe pulmonary, gastrointestinal, and urinary abnormalities|Urban-Rifkin-Davis syndrome|cutis laxa, autosomal recessive, type 1C|cutis laxa, autosomal recessive, type IC|autosomal recessive cutis laxa type 1C|ARCL1C|autosomal recessive cutis laxa type IC PMID:19836010|DOID:0070139|Orphanet:221145|MESH:C567716|UMLS:C2750804|OMIM:613177|ICD10:Q82.8 owl:Class NCBITaxon:12080 biolink:NamedThing Human poliovirus 1 tmpaxzxjjyw_mondo_relaxed.owl poliovirus type 1 PV1|Poliovirus 1|Human poliovirus type 1|Polio virus 1|HPV-1|Poliovirus type 1|PV1 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013298 biolink:NamedThing chromosome 17q21.31 duplication syndrome The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent. tmpaxzxjjyw_mondo_relaxed.owl chromosome 17q21.31 duplication syndrome|dup(17)(q21.31)|17q21.31 microduplication syndrome|trisomy 17q21.31 SCTID:716683005|DOID:0060434|UMLS:C4274345|ICD10:Q92.3|OMIM:613533|UMLS:C3150787|Orphanet:217340 owl:Class MONDO:0010677 biolink:NamedThing muscular dystrophy, Mabry type tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, Mabry type OMIM:310000|MESH:C564096|UMLS:C1839670 owl:Class HGNC:1093 biolink:NamedThing BPGM tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010227 biolink:NamedThing future cardiac atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0055076 biolink:NamedThing transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions within an organism or cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032850 biolink:NamedThing neurooculocardiogenitourinary syndrome tmpaxzxjjyw_mondo_relaxed.owl NOCGUS|NEUROOCULOCARDIOGENITOURINARY SYNDROME DOID:0111675|OMIM:618652 owl:Class MONDO:0006755 biolink:NamedThing euthyroid sick syndrome Abnormal thyroid function tests, low triiodothyronine with elevated reverse triiodothyronine, in the setting of non-thyroidal illness. tmpaxzxjjyw_mondo_relaxed.owl sick euthyroid syndrome|sick-euthyroid syndrome|euthyroid sick syndrome EFO:1000931|ICD9:790.94|ICD10:E07.81|DOID:2856|UMLS:C0015190|MESH:D005067|MedDRA:10015549|NCIT:C113170|SCTID:237542005 owl:Class MONDO:0014816 biolink:NamedThing split-foot malformation-mesoaxial polydactyly syndrome tmpaxzxjjyw_mondo_relaxed.owl SFMMP|split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome|split-foot malformation with mesoaxial polydactyly OMIM:616890|UMLS:C4225167|Orphanet:488232 owl:Class GO:0010033 biolink:NamedThing response to organic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organic substance stimulus. tmpaxzxjjyw_mondo_relaxed.owl process resulting in tolerance to organic substance owl:Class MONDO:0017720 biolink:NamedThing GM2 gangliosidosis A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. tmpaxzxjjyw_mondo_relaxed.owl GM2-gangliosidosis, B, B1, AB variant|GM>2< gangliosidosis|gangliosidosis GM2 DOID:3321|SCTID:33316007|UMLS:C0268274|Orphanet:309152|ICD10:E75.0|UMLS:C0039373|ICD10:E75.00|MESH:D020143|GARD:0002522 owl:Class UBERON:0013703 biolink:NamedThing integumentary projection tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14064 biolink:NamedThing HDAC6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004199 biolink:NamedThing vulvar keratinizing squamous cell carcinoma A squamous cell carcinoma that arises from the vulva and is characterized by the presence of keratin pearls. tmpaxzxjjyw_mondo_relaxed.owl vulvar keratinizing squamous cell carcinoma UMLS:C2109334|NCIT:C40284|DOID:7363 owl:Class GO:0060406 biolink:NamedThing positive regulation of penile erection Any process that increases the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060405 biolink:NamedThing regulation of penile erection Any process that modulates the rate, frequency or extent of penile erection. Penile erection is the hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003542 biolink:NamedThing right lung respiratory bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00005800 biolink:NamedThing desert sand Sand which is part of a desert. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0600017 biolink:NamedThing acinar dysplasia caused by mutation in FGF10 Any acinar dysplasia in which the cause of the disease is a mutation in the FGF10 gene. tmpaxzxjjyw_mondo_relaxed.owl FGF10 acinar dysplasia|FGF10 related acinar dysplasia http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3188 owl:Class MONDO:0010284 biolink:NamedThing Armfield syndrome X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked, syndromic, Armfield type|MRXSA|X-linked intellectual disability, Armfield type|intellectual disability syndrome, X-linked, Armfield type|Armfield syndrome|Armfield X-linked mental retardation syndrome|mental retardation, X-linked, syndromic, Armfield type|mental retardation syndrome, X-linked, Armfield type|syndromic X-linked intellectual disability Armfield type|Armfield X-linked intellectual disability syndrome|syndromic X-linked mental retardation Armfield type DOID:0050764|ICD10:Q87.8|MESH:C564551|SCTID:719017003|Orphanet:85276|OMIM:300261|UMLS:C1846057 owl:Class MONDO:0022675 biolink:NamedThing cataract skeletal anomalies tmpaxzxjjyw_mondo_relaxed.owl GARD:0001158 https://rarediseases.info.nih.gov/diseases/1158/cataract-skeletal-anomalies owl:Class MONDO:0005871 biolink:NamedThing Nematoda infectious disease Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in humans. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans. tmpaxzxjjyw_mondo_relaxed.owl Infection, Nematode|Nematodiasis|Nematode infection|nematode infection|Infections, Nematode|nematodiasis|Nematoda caused disease or disorder|Disease due to Nematoda|Nematode Infections|disease due to nematoda|Nematode Infection|Nematoda disease or disorder MESH:D009349|UMLS:C0027583|SCTID:84706005|EFO:0007391 MONDO:0021556 owl:Class MONDO:0100052 biolink:NamedThing acetazolamide-responsive hereditary episodic ataxia Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days, with improvement upon therapy with acetazolamide. tmpaxzxjjyw_mondo_relaxed.owl 2018-07-25 17:53:07+00:00 owl:Class MONDO:0015277 biolink:NamedThing medullary thyroid gland carcinoma A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy. tmpaxzxjjyw_mondo_relaxed.owl medullary carcinoma of the thyroid|thyroid cancer, medullary|thyroid gland medullary cancer|medullary thyroid gland carcinoma|thyroid gland neuroendocrine carcinoma|thyroid carcinoma, medullary|medullary carcinoma|medullary thyroid cancer (MTC)|medullary carcinoma of thyroid gland|medullary carcinoma of the thyroid gland|parafollicular cell carcinoma|thyroid gland medullary carcinoma|thyroid medullary carcinoma|C cell carcinoma|medullary thyroid carcinoma|carcinoma of parafollicular cell|MTC|medullary thyroid cancer|THME|medullary carcinoma of thyroid|carcinoma, C-cell, malignant|ultimobranchial thyroid tumour|ultimobranchial thyroid tumor SCTID:255032005|UMLS:C0206693|DOID:3973|NCIT:C3879|ICD10:C73|UMLS:C0238462|MedDRA:10027101|ONCOTREE:THME|Orphanet:1332|GARD:0007004|HP:0002865 owl:Class GO:0030855 biolink:NamedThing epithelial cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33747 biolink:NamedThing nickel group molecular entity tmpaxzxjjyw_mondo_relaxed.owl nickel group molecular entity|nickel group molecular entities owl:Class CHEBI:32773 biolink:NamedThing D-tyrosinate(1-) An optically active form of tyrosinate(1-) having D-configuration. tmpaxzxjjyw_mondo_relaxed.owl hydrogen D-tyrosinate|(2R)-2-amino-3-(4-hydroxyphenyl)propanoate|D-tyrosinate(1-)|D-tyrosine monoanion owl:Class MONDO:0011131 biolink:NamedThing tricho-oculo-dermo-vertebral syndrome tmpaxzxjjyw_mondo_relaxed.owl Alves syndrome|Alves-dos Santos-Castelo syndrome|ectodermal dysplasia-cataracts-kyphoscoliosis syndrome|ectodermal dysplasia - cataracts - kyphoscoliosis|Trichooculodermovertebral syndrome|Todv syndrome|arthrogryposis and ectodermal dysplasia MESH:C537441|GARD:0001553|OMIM:601701|Orphanet:3354 owl:Class MONDO:0004220 biolink:NamedThing endometrial endometrioid adenocarcinoma with spindled epithelial cells A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of spindled malignant epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl endometrial endometrioid adenocarcinoma with spindled epithelial cells|sarcomatoid uterine corpus endometrioid adenocarcinoma NCIT:C27850|DOID:7436|UMLS:C1336913 owl:Class MONDO:0014065 biolink:NamedThing mitochondrial complex III deficiency nuclear type 4 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial complex III deficiency caused by mutation in UQCRQ|UQCRQ mitochondrial complex III deficiency|MC3DN4|mitochondrial complex III deficiency, nuclear type 4|mitochondrial Complex 3 deficiency, nuclear type 4 Orphanet:1460|OMIM:615159|DOID:0080113|UMLS:C3554607 owl:Class MONDO:0004608 biolink:NamedThing oropharynx cancer A primary or metastatic malignant neoplasm that affects the oropharynx. tmpaxzxjjyw_mondo_relaxed.owl oropharyngeal cancer|malignant neoplasm of oropharynx|malignant tumor of the oropharynx|malignant neoplasm of posterior wall of oropharynx|primary malignant neoplasm of lateral wall of oropharynx|cancer of oropharynx|oropharynx cancer|malignant tumour of mesopharynx|malignant neoplasm of lateral wall of oropharynx|malignant oropharyngeal neoplasm|malignant oropharynx neoplasm|malignant neoplasm of the oropharynx|malignant tumor of oropharynx|malignant oropharyngeal tumor|malignant tumor of posterior wall of oropharynx|oropharyngeal carcinoma|malignant neoplasm of junctional region of oropharynx ICD10:C10|DOID:8557|ICD9:146.5|UMLS:C2349952|NCIT:C7398|ICD10:C10.3|MESH:D009959|ICD9:146.6|UMLS:C3165521|ICD9:146|ICD9:146.7|EFO:1001931|ICD9:146.9|GARD:0009358|UMLS:C0153382|ICD10:C10.9|ICD10:C10.2|UMLS:C0153390|UMLS:C0153389|ICD10:C10.8 owl:Class MONDO:0001095 biolink:NamedThing mediastinum neuroblastoma A neuroblastoma arising from the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl neuroblastoma of mediastinum|mediastinum neuroblastoma|neuroblastoma of the mediastinum|mediastinal neuroblastoma UMLS:C1334673|DOID:10660|EFO:1000367|NCIT:C6628 owl:Class MONDO:0015699 biolink:NamedThing immunodeficiency due to a classical component pathway complement deficiency tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency due to a C1, C4, or C2 component complement deficiency|immunodeficiency due to an early component of complement deficiency|immunodeficiency due to C1, C4, or C2 component complement deficiency Orphanet:169147|OMIM:613652|OMIM:217000|OMIM:613783|OMIM:614380|OMIM:614379|ICD10:D84.1|OMIM:216950 owl:Class MONDO:0014372 biolink:NamedThing cone-rod dystrophy 19 Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene. tmpaxzxjjyw_mondo_relaxed.owl CORD19|cone-rod dystrophy caused by mutation in TTLL5|cone-rod dystrophy 19|TTLL5 cone-rod dystrophy|cone-rod dystrophy type 19 DOID:0111025|UMLS:C4014501|OMIM:615860 owl:Class MONDO:0015062 biolink:NamedThing gastric neuroendocrine tumor, well differentiated, low or intermediate grade A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. tmpaxzxjjyw_mondo_relaxed.owl gastric NET G1/2|gastric neuroendocrine tumor|GNET|gastric well differentiated endocrine tumor/carcinoma|gastric well differentiated endocrine tumor|well-differentiated neuroendocrine tumors of the stomach|gastric NET UMLS:C3272399|NCIT:C95871|ONCOTREE:SWDNET|UMLS:CN197355 owl:Class MONDO:0015473 biolink:NamedThing cryptorchidism-arachnodactyly-intellectual disability syndrome Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970. tmpaxzxjjyw_mondo_relaxed.owl Van Benthem-Driessen-Hanveld syndrome|cryptorchidism arachnodactyly intellectual deficit Orphanet:1548|UMLS:CN199616|GARD:0000860|ICD10:Q87.8 owl:Class UBERON:0006653 biolink:NamedThing glans clitoris tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008324 biolink:NamedThing erectile tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003423 biolink:NamedThing middle ear adenoma A benign, well-circumscribed glandular neoplasm that arises from the middle ear and may exhibit neuroendocrine differentiation. It usually presents with conductive hearing loss. tmpaxzxjjyw_mondo_relaxed.owl middle ear adenoma|adenoma of the middle ear|adenoma of middle ear DOID:5387|SCTID:734078009|UMLS:C1334759|NCIT:C6834 owl:Class GO:0010243 biolink:NamedThing response to organonitrogen compound Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. tmpaxzxjjyw_mondo_relaxed.owl response to organic nitrogen owl:Class MONDO:0014632 biolink:NamedThing hypomyelinating leukodystrophy 10 Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene. tmpaxzxjjyw_mondo_relaxed.owl leukodystrophy caused by mutation in PYCR2|hypomyelinating leukodystrophy type 10|leukodystrophy, hypomyelinating, 10|PYCR2 leukodystrophy|HLD10|leukodystrophy, hypomyelinating, type 10 UMLS:C4225332|OMIM:616420|DOID:0060788 owl:Class MONDO:0016771 biolink:NamedThing annular atrophic lichen planus Annular atrophic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by both annular and atrophic LP features in the same lesion. tmpaxzxjjyw_mondo_relaxed.owl annular atrophic LP GARD:0012676|UMLS:C4304037|SCTID:720493003|ICD10:L43.8|Orphanet:254411 https://rarediseases.info.nih.gov/diseases/12676/annular-atrophic-lichen-planus owl:Class MONDO:0008358 biolink:NamedThing radial ray hypoplasia-choanal atresia syndrome Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus. tmpaxzxjjyw_mondo_relaxed.owl radial ray hypoplasia choanal atresia|radial RAY hypoplasia with choanal atresia|radial ray hypoplasia and choanal atresia|Goldblatt-Viljoen syndrome Orphanet:3026|OMIM:179270|GARD:0004627|SCTID:232373003 owl:Class MONDO:0001876 biolink:NamedThing renal artery atheroma A atherosclerosis that involves the renal artery. tmpaxzxjjyw_mondo_relaxed.owl atherosclerosis of renal artery|renal atherosclerosis|renal artery atherosclerosis DOID:14092|ICD9:440.1|ICD10:I70.1|SCTID:45281005|UMLS:C0155734 owl:Class MONDO:0000980 biolink:NamedThing aortic atherosclerosis A atherosclerosis that involves the aorta. tmpaxzxjjyw_mondo_relaxed.owl atherosclerosis of aorta|aortic atherosclerosis (disease)|aorta atherosclerosis|aortic atherosclerosis aortic atherosclerosis (disease) DOID:10230|ICD10:I70.0|HP:0012397|ICD9:440.0|UMLS:C0155733|SCTID:81817003 owl:Class MONDO:0005405 biolink:NamedThing childhood onset asthma Asthma that starts in childhood. tmpaxzxjjyw_mondo_relaxed.owl asthma of childhood|childhood asthma|pediatric asthma EFO:0004591|SCTID:233678006|UMLS:C0264408 owl:Class UBERON:0002731 biolink:NamedThing vestibulocochlear nerve root tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001371 biolink:NamedThing Flexion contracture A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. tmpaxzxjjyw_mondo_relaxed.owl Contracture|Flexed joint that cannot be straightened|Contractures|Flexion contractures of joints|Joint contracture|Flexion contractures|Joint contractures UMLS:C0333068|SNOMEDCT_US:203598005|UMLS:C0009917|UMLS:C0009918|UMLS:C1850530|SNOMEDCT_US:55033002|SNOMEDCT_US:88565003|SNOMEDCT_US:385522000|SNOMEDCT_US:7890003|MSH:D003286|SNOMEDCT_US:57048009 HP:0001372|HP:0005053|HP:0001381|HP:0005660|HP:0005189 human_phenotype owl:Class HP:0011729 biolink:NamedThing Abnormality of joint mobility An abnormality in the range and ease of motion of joints across their normal range. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023216 peter 2012-04-18T07:09:28Z human_phenotype owl:Class GO:0098962 biolink:NamedThing regulation of postsynaptic neurotransmitter receptor activity Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity involved in synaptic transmission. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11948 biolink:NamedThing TNNT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021057 biolink:NamedThing classic or attenuated familial adenomatous polyposis An inherited diseases haracterized by the development of adenomas in the rectum and colon; classified into classic FAP and attenuated FAP. tmpaxzxjjyw_mondo_relaxed.owl classic or attenuated FAP|classic or attenuated familial adenomatous polyposis owl:Class MONDO:0000782 biolink:NamedThing Indian plum allergy A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. tmpaxzxjjyw_mondo_relaxed.owl Ziziphus mauritiana fruit allergy DOID:0060507 owl:Class MONDO:0013115 biolink:NamedThing RIN2 syndrome RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. tmpaxzxjjyw_mondo_relaxed.owl tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|RIN2 syndrome|macrocephaly, alopecia, cutis laxa, and scoliosis|MACS syndrome|RIN2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis ICD10:Q82.8|OMIM:613075|UMLS:C2751321|Orphanet:217335|MESH:C567770|SCTID:723367005 owl:Class MONDO:0018932 biolink:NamedThing cirrhotic cardiomyopathy Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:57777|ICD10:I42.8|UMLS:C4511053|SCTID:725416005 owl:Class UBERON:0003086 biolink:NamedThing caudal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17340 biolink:NamedThing PRPF8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007059 biolink:NamedThing acrorenal syndrome Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. tmpaxzxjjyw_mondo_relaxed.owl acrorenal syndrome UMLS:CN206860|MESH:C563159|OMIM:201310|UMLS:C3495490|ICD10:Q87.2|UMLS:C0796290|DOID:0060347|Orphanet:971|SCTID:720458005|OMIM:102520 owl:Class UBERON:0016478 biolink:NamedThing liver stroma tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8840 biolink:NamedThing PEPD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012430 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the WDR81 gene. tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2|WDR81 dysequilibrium syndrome|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 2|dysequilibrium syndrome caused by mutation in WDR81|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 2|CAMRQ2 Orphanet:1766|UMLS:C2750234|MESH:C567656|OMIM:610185 owl:Class MONDO:0009133 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium A non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl CAMRQ syndrome|cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|CAMRQ|cerebellar disorder, nonprogressive, with mental retardation|dialysis dysequilibrium syndrome|VLDLRCH|DES|cerebellar ataxia, mental retardation, and dysequilibrium|cerebellar hypoplasia, VLDLR associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia, mental retardation and dysequlibrium syndrome|dysequilibrium syndrome MESH:C535731|DOID:0050997|OMIMPS:224050|SCTID:230782004|GARD:0001998|ICD10:G11.8|OMIM:610185|MedDRA:10013140|OMIM:615268|OMIM:613227|Orphanet:1766|OMIM:224050|NCIT:C114781 https://rarediseases.info.nih.gov/diseases/1998/dysequilibrium-syndrome owl:Class MONDO:0009248 biolink:NamedThing fructose and galactose intolerance tmpaxzxjjyw_mondo_relaxed.owl fructose and galactose intolerance UMLS:C1856686|OMIM:229500|MESH:C565558 owl:Class MONDO:0700126 biolink:NamedThing trisomy 21 A chromosomal disorder consisting of the presence of an extra chromosome 21. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0015144 biolink:NamedThing autopod hair tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007230 biolink:NamedThing Brachymorphism-onychodysplasia-dysphalangism syndrome Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants. tmpaxzxjjyw_mondo_relaxed.owl Brachymorphism-onychodysplasia-dysphalangism syndrome|bod syndrome|Senior syndrome|Brachymorphism onychodysplasia dysphalangism syndrome Orphanet:1292|MESH:C536242|OMIM:113477|SCTID:720573009|UMLS:C1862082|GARD:0000918|ICD10:Q87.1 owl:Class MONDO:0004865 biolink:NamedThing blue drum syndrome A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. tmpaxzxjjyw_mondo_relaxed.owl acute mucoid otitis media|blue drum syndrome|acute non-suppurative otitis media - mucoid UMLS:C0395863|SCTID:52353000|ICD9:381.02|DOID:9736 owl:Class MONDO:0010474 biolink:NamedThing linear skin defects with multiple congenital anomalies 2 Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene. tmpaxzxjjyw_mondo_relaxed.owl linear skin defects with multiple congenital anomalies 2|COX7B microphthalmia with linear skin defects syndrome|LSDMCA2|linear skin defects with multiple congenital anomalies type 2|aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies|microphthalmia with linear skin defects syndrome caused by mutation in COX7B Orphanet:2556|UMLS:C3550921|OMIM:300887 owl:Class MONDO:0042494 biolink:NamedThing childhood malignant melanoma A melanoma that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood melanoma (disease)|melanoma (disease) of childhood|malignant melanoma, childhood|childhood melanoma|pediatric melanoma (disease) NCIT:C131506|GARD:0000091|UMLS:C4329660 owl:Class UBERON:0013493 biolink:NamedThing abdominal fascia tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008900 biolink:NamedThing camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome is an extremely rare chondrodysplastic malformation syndrome that is characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly (hammertoes) and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils, and a mild intellectual disability were also noted. Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972. tmpaxzxjjyw_mondo_relaxed.owl camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia|camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia OMIM:211930|ICD10:Q87.2|MESH:C537974|GARD:0001064|Orphanet:1321 owl:Class UBERON:0036422 biolink:NamedThing wall of pulmonary artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000415 biolink:NamedThing artery wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000358 biolink:NamedThing sphincter associated smooth muscle cell A smooth muscle cell that is part of a sphincter. A sphincter is a typically circular muscle that normally maintains constriction of a natural body passage or orifice and which relaxes as required by normal physiological functioning. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:2000017 biolink:NamedThing fibroblast of peridontal ligament Any fibroblast that is part of a periodontal ligament. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-04T16:50:33Z cell owl:Class HP:0000153 biolink:NamedThing Abnormality of the mouth An abnormality of the mouth. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the mouth|Abnormal mouth MSH:D009056|SNOMEDCT_US:128334002|UMLS:C0026633 human_phenotype owl:Class MONDO:0006813 biolink:NamedThing intradermal nevus A nevus characterized by the proliferation of nevus cells in the dermis without involvement of the dermal-epidermal junction. tmpaxzxjjyw_mondo_relaxed.owl dermal Nevus UMLS:C0206737|EFO:1000995|NCIT:C3804|ICDO:8750/0|MedDRA:10058537|SCTID:302838006|MESH:D018330 owl:Class MONDO:0044796 biolink:NamedThing spindle cell nevus A nevus characterized by the presence of spindle-shaped melanocytes. tmpaxzxjjyw_mondo_relaxed.owl spindle cell nevus NCIT:C66758|SCTID:253038006 owl:Class GO:0031943 biolink:NamedThing regulation of glucocorticoid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. tmpaxzxjjyw_mondo_relaxed.owl regulation of glucocorticoid metabolism owl:Class MONDO:0021358 biolink:NamedThing neoplasm of hypopharynx A neoplasm (disease) that involves the hypopharynx. tmpaxzxjjyw_mondo_relaxed.owl hypopharynx neoplasm|tumor of the hypopharynx|tumor of hypopharynx|neoplasm of the hypopharynx|hypopharyngeal neoplasms|hypopharynx neoplasm (disease)|neoplasm of hypopharynx|hypopharynx tumor|hypopharyngeal tumor|hypopharyngeal neoplasm SCTID:126686005|NCIT:C3127 owl:Class UBERON:0005095 biolink:NamedThing kidney rudiment tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11022 biolink:NamedThing SLC35A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005702 biolink:NamedThing optic eminence mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005166 biolink:NamedThing osteoma A benign, well-circumscribed, bone-forming neoplasm predominantly composed of lamellar bone. It usually arises from the calvarial, facial, or jaw bones. It is usually asymptomatic but it may cause local swelling or obstruction of the paranasal sinuses. Asymptomatic cases have an indolent clinical course. tmpaxzxjjyw_mondo_relaxed.owl osteoma (disease)|osteoma, benign|osteoma osteoma (disease) MESH:D010016|SCTID:302858007|NCIT:C3296|EFO:0002423|UMLS:C0029440|ICDO:9180/0|HP:0100246 owl:Class MONDO:0004372 biolink:NamedThing chronic toxic polyneuropathy tmpaxzxjjyw_mondo_relaxed.owl chronic toxic polyneuropathy UMLS:C1333048|NCIT:C35603|DOID:7825 owl:Class MONDO:0020058 biolink:NamedThing gonosome anomaly tmpaxzxjjyw_mondo_relaxed.owl Sex-chromosome anomaly ICD9:758.81|Orphanet:98155|ICD9:758.8|SCTID:95462004 owl:Class MONDO:0014114 biolink:NamedThing cardiofaciocutaneous syndrome 4 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene. tmpaxzxjjyw_mondo_relaxed.owl CFC4|MAP2K2 cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome caused by mutation in MAP2K2|cardiofaciocutaneous syndrome type 4|cardiofaciocutaneous syndrome 4 DOID:0111463|Orphanet:1340|UMLS:C3809007|OMIM:615280 owl:Class MONDO:0010894 biolink:NamedThing maturity-onset diabetes of the young type 3 Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha. tmpaxzxjjyw_mondo_relaxed.owl MODY type 3|maturity-onset diabetes of the young, type 3|maturity-onset diabetes of the young type 3|maturity-onset diabetes of the young (disease) caused by mutation in HNF1A|HNF1A maturity-onset diabetes of the young (disease)|hepatocyte nuclear Factor 1-Alpha-associated monogenic diabetes|HNF1A-associated monogenic diabetes|type 3 maturity-onset diabetes of the young|MODY, type 3|diabetes mellitus MODY type 3|MODY3|MODY hepatocyte nuclear factor-1-alpha related Orphanet:552|OMIM:600496|MESH:C563933|GARD:0010658|NCIT:C129742|UMLS:C1838100|DOID:0111102|SCTID:609570008 https://rarediseases.info.nih.gov/diseases/10658/maturity-onset-diabetes-of-the-young-type-3 owl:Class MONDO:0001821 biolink:NamedThing hypoactive sexual desire disorder A disorder characterized by a recurrent or persistent lack of desire for sexual activity. The lack of sexual desire is not attributable to another psychiatric disorder or to the physiological effects of substance use or a general medical condition. tmpaxzxjjyw_mondo_relaxed.owl lack or loss of sexual desire SCTID:270903007|ICD10:F52.0|NCIT:C94337|DOID:13868|ICD9:302.71 owl:Class ECTO:9001630 biolink:NamedThing exposure to endocrine disruptor An exposure to endocrine disruptor. tmpaxzxjjyw_mondo_relaxed.owl exposure to endocrine disruptor owl:Class GO:1902623 biolink:NamedThing negative regulation of neutrophil migration Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil migration. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of neutrophil migration|down regulation of neutrophil migration|inhibition of neutrophil migration|downregulation of neutrophil migration owl:Class MONDO:0012604 biolink:NamedThing isolated microphthalmia 3 Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene. tmpaxzxjjyw_mondo_relaxed.owl isolated microphthalmia 3|RAX isolated microphthalmia|isolated microphthalmia caused by mutation in rax|microphthalmia, isolated 3|rax isolated microphthalmia|MCOP3|microphthalmia, isolated type 3|isolated microphthalmia type 3|isolated microphthalmia caused by mutation in RAX UMLS:C1970237|MESH:C567025|ICD10:Q11.0|OMIM:611038|Orphanet:2542|DOID:0060842 owl:Class MONDO:0014679 biolink:NamedThing polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis tmpaxzxjjyw_mondo_relaxed.owl PMGYCHA|polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis Orphanet:268940|OMIM:616531|UMLS:C4225295|Orphanet:98889 owl:Class HGNC:10599 biolink:NamedThing SCNN1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006029 biolink:NamedThing cecum carcinoma A carcinoma that arises from epithelial cells of the caecum tmpaxzxjjyw_mondo_relaxed.owl cecum cancer|carcinoma of cecum|caecum carcinoma|carcinoma of caecum|cecal cancer|carcinoma of the cecum|cecum carcinoma NCIT:C3491|DOID:1519|SCTID:255081007|UMLS:C0149640|EFO:1000021 owl:Class MONDO:0012091 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 32 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in variation in the chromosome region 1p22.1-p13.3. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 32|DFNB105|autosomal recessive nonsyndromic deafness caused by mutation in CDC14A|autosomal recessive deafness 105|autosomal recessive nonsyndromic deafness type 105|deafness, autosomal recessive 105|autosomal recessive deafness 32|autosomal recessive nonsyndromic deafness 32|autosomal recessive nonsyndromic deafness 105|autosomal recessive nonsyndromic deafness type 32|deafness, autosomal recessive type 105|CDC14A autosomal recessive nonsyndromic deafness|DFNB32 MESH:C563884|OMIM:608653|ICD10:H90.3|UMLS:C4310777|DOID:0110491|UMLS:C1837608|DOID:0110466 owl:Class MONDO:0008943 biolink:NamedThing autosomal recessive spinocerebellar ataxia 2 The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training. tmpaxzxjjyw_mondo_relaxed.owl cerebelloparenchymal disorder 3|autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA|autosomal recessive cerebelloparenchymal disorder type 3|CPD3|spinocerebellar ataxia, autosomal recessive 2|autosomal recessive spinocerebellar ataxia type 2|SCAR2|cerebellar hypoplasia, nonprogressive Norman type|PMPCA autosomal recessive congenital cerebellar ataxia|cerebellar granular cell hypoplasia and intellectual disability, congenital|CPD 3|cerebellar granular cell hypoplasia and mental retardation, congenital|CPDIII UMLS:C1859298|SCTID:715369006|GARD:0001199|DOID:0080061|Orphanet:1170|ICD10:G11.0|MESH:C565865|OMIM:213200 owl:Class MONDO:0011689 biolink:NamedThing dyslexia, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl dyslexia, susceptibility to, 6|DYX6 OMIM:606616 owl:Class MONDO:0005489 biolink:NamedThing dyslexia A learning disorder characterized by an impairment in processing written words. Reading difficulties can include distortions, omissions or substitutions of characters. Oral and silent reading difficulties can include faulty and slow comprehension. tmpaxzxjjyw_mondo_relaxed.owl dyslexia (disease)|dyslexia dyslexia (disease) OMIM:608995|OMIM:606616|NCIT:C96410|OMIM:300509|EFO:0005424|ICD10:F81.0|SCTID:52824009|OMIM:606896|OMIM:600202|DOID:4428|OMIM:604254|HP:0010522|OMIM:127700 owl:Class HGNC:4878 biolink:NamedThing HEXA tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000484 biolink:NamedThing connective tissue type mast cell Mast cell subtype whose granules contain both the serine proteases tryptase and chymase. These cells are primarily found in connective tissue, such as the peritoneal cavity, skin, and intestinal submucosa. Their development is T-cell independent. tmpaxzxjjyw_mondo_relaxed.owl MC(TC)|MCTC|TC mast cells They are CD88-positive. The cytoplasmic granules contain high levels of histamine and heparin (mouse) or major neutral proteases, tryptase, chymase, carboxypeptidase A, and cathepsin G (humans). Reportedly, they cannot produce leukotrienes (LTC4) and IL-4. They are reportedly very heterogeneous depending upon location and can convert to the MC(T) phenotype. cell owl:Class MONDO:0008963 biolink:NamedThing Chediak-Higashi syndrome ChC)diak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS) have been described. tmpaxzxjjyw_mondo_relaxed.owl Chédiak-Higashi disease|Chédiak-Higashi-Steinbrink syndrome|Chediak Higashi syndrome|Chediak - Steinbrinck anomaly|Chédiak-Higashi syndrome|Chediak-Higashi syndrome|ChC)diak-Higashi-Steinbrink syndrome|ChC)diak-Higashi disease|CHS NCIT:C2941|UMLS:C0007965|MedDRA:10008415|SCTID:111396008|OMIM:214500|ICD10:D72.0|DOID:2935|MESH:D002609|GARD:0006035|ICD10:E70.330|Orphanet:167|ICD10:E70.3 https://rarediseases.info.nih.gov/diseases/6035/chediak-higashi-syndrome owl:Class GO:0050801 biolink:NamedThing ion homeostasis Any process involved in the maintenance of an internal steady state of ions within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of crystal formation|regulation of ion homeostasis|electrolyte homeostasis owl:Class MONDO:0032725 biolink:NamedThing developmental and epileptic encephalopathy, 74 tmpaxzxjjyw_mondo_relaxed.owl EIEE74|DEE74|epileptic encephalopathy, early infantile, 74|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 74 OMIM:618396 owl:Class MONDO:0014481 biolink:NamedThing inflammatory skin and bowel disease, neonatal, 2 Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene. tmpaxzxjjyw_mondo_relaxed.owl inflammatory skin and bowel disease, neonatal, type 2|EGFR neonatal inflammatory skin and bowel disease|NISBD2|neonatal inflammatory skin and bowel disease caused by mutation in EGFR|inflammatory skin and bowel disease, neonatal, 2 Orphanet:294023|OMIM:616069|UMLS:C4015130 owl:Class MONDO:0017411 biolink:NamedThing neonatal inflammatory skin and bowel disease Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis. tmpaxzxjjyw_mondo_relaxed.owl inflammatory skin and bowel disease, neonatal OMIM:614328|OMIMPS:614328|Orphanet:294023|UMLS:CN228266|OMIM:616069 owl:Class MONDO:0002279 biolink:NamedThing iron metabolism disease Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed) tmpaxzxjjyw_mondo_relaxed.owl metabolism disorders, iron|iron metabolism disorder|iron disorder|disorders, iron metabolism|metabolism disorder, iron|disorder of iron metabolism|disorder, iron metabolism ICD9:275.0|MESH:D019189|ICD10:E83.10|ICD10:E83.1|UMLS:C0012715|DOID:2351|SCTID:30913008 Editor note: DOID refers to acquired version, consider new class owl:Class MONDO:0011264 biolink:NamedThing torsion dystonia 6 Primary dystonia DYT6 type is characterized by focal, predominantly cranio-cervical dystonia with dysarthria and dysphagia, or limb dystonia in some cases. tmpaxzxjjyw_mondo_relaxed.owl torsion dystonia, adult-onset, mixed type|generalized cervical and upper-limb-onset dystonia|torsion dystonia adult onset mixed type|DYT-THAP1|idiopathic torsion dystonia of mixed type|THAP1 generalized isolated dystonia|dystonia 6|primary dystonia, DYT6 type|adolescent-onset dystonia of mixed type|DYT6|dystonia 6, torsion|generalized isolated dystonia caused by mutation in THAP1|torsion dystonia type 6 Orphanet:98806|DOID:0090039|UMLS:C1414216|ICD10:G24.1|SCTID:702448007|GARD:0009630|OMIM:602629|MESH:C538003 owl:Class MONDO:0018303 biolink:NamedThing generalized isolated dystonia tmpaxzxjjyw_mondo_relaxed.owl ICD10:G24.1|Orphanet:376724 Editor note: consider merging with generalized dystonia if no complex forms owl:Class GO:0051797 biolink:NamedThing regulation of hair follicle development Any process that modulates the frequency, rate or extent of hair follicle development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009933 biolink:NamedThing congenital pulmonary lymphangiectasia Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation. tmpaxzxjjyw_mondo_relaxed.owl lymphangiomatosis pulmonary|pulmonary cystic lymphangiectasis|lymphangiectasia, pulmonary, congenital|lymphangiectasia pulmonary congenital|pulmonary lymphangiomatosis|congenital pulmonary lymphangiectasis|lymphangiomatosis, pulmonary|CPL OMIM:265300|UMLS:C1849554|ICD10:Q33.8|SCTID:45142002|Orphanet:2414|NCIT:C99034|MESH:C537727|GARD:0009900 https://rarediseases.info.nih.gov/diseases/9900/congenital-pulmonary-lymphangiectasia owl:Class MONDO:0006840 biolink:NamedThing lymphangiectasis Dilatation of the lymphatic vessels. tmpaxzxjjyw_mondo_relaxed.owl lymphangiectasia EFO:1001025|NCIT:C97087|UMLS:C0024214|GARD:0006933|MESH:D008200 https://rarediseases.info.nih.gov/diseases/6933/lymphangiectasis owl:Class MONDO:0023193 biolink:NamedThing Friedman Goodman syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0002387 https://rarediseases.info.nih.gov/diseases/2387/friedman-goodman-syndrome owl:Class MONDO:0000543 biolink:NamedThing ovarian melanoma A melanoma (disease) that involves the ovary. tmpaxzxjjyw_mondo_relaxed.owl metastatic melanoma of ovary|melanoma (disease) of ovary|ovary metastatic melanoma|ovary melanoma (disease) DOID:0050928 owl:Class GO:0048477 biolink:NamedThing oogenesis The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell. Examples of this process are found in Mus musculus and Drosophila melanogaster. tmpaxzxjjyw_mondo_relaxed.owl ovum development owl:Class GO:0007292 biolink:NamedThing female gamete generation Generation of the female gamete; specialised haploid cells produced by meiosis and along with a male gamete takes part in sexual reproduction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001438 biolink:NamedThing postinflammatory pulmonary fibrosis tmpaxzxjjyw_mondo_relaxed.owl postinflammatory pulmonary fibrosis|post-inflammatory pulmonary fibrosis SCTID:266368002|UMLS:C0175999|ICD10:J84.10|ICD9:515|DOID:12123 owl:Class MONDO:0017529 biolink:NamedThing polysyndactyly, unilateral tmpaxzxjjyw_mondo_relaxed.owl preaxial polydactyly type 4, unilateral ICD10:Q70.4|UMLS:CN203260|Orphanet:295159 owl:Class MONDO:0012599 biolink:NamedThing hypertension, essential, susceptibility to, 8 tmpaxzxjjyw_mondo_relaxed.owl hypertension, essential, susceptibility to, 8|HYT8 OMIM:611014 owl:Class MONDO:0033493 biolink:NamedThing fibromatosis, gingival, 5 tmpaxzxjjyw_mondo_relaxed.owl gingival fibromatosis 5|fibromatosis, gingival, 5|GGF5|fibromatosis, gingival, hereditary, 5|GINGF5 DOID:0080280|OMIM:617626|Orphanet:2024 owl:Class MONDO:0012041 biolink:NamedThing MUTYH-related attenuated familial adenomatous polyposis An autosomal recessive hereditary neoplastic syndrome caused by mutations in the MUTYH gene on chromosome 1p34.1. It is characterized by the presence of multiple colorectal polyps that may progress to carcinoma. Development of gastric and small intestinal polyps may also occur. tmpaxzxjjyw_mondo_relaxed.owl familial adenomatous polyposis 2|familial adenomatous polyposis, type 2|MUTYH-related attenuated FAP|MAP|MUTYH-related attenuated familial adenomatous polyposis|FAP2|MAP syndrome|autosomal recessive multiple colorectal adenomas|familial adenomatous polyposis, 2|MUTYH-associated polyposis|MUTYH-related attenuated familial polyposis coli|adenomas, multiple colorectal, autosomal recessive|MYH-associated polyposis|colorectal adenomatous polyposis, autosomal recessive|MUTYH-related AFAP|autosomal recessive familial adenomatous polyposis OMIM:608456|UMLS:C1837991|MESH:C563924|Orphanet:220460|Orphanet:247798|NCIT:C96520|ICD10:D12.6|GARD:0010805 https://rarediseases.info.nih.gov/diseases/10805/myh-associated-polyposis owl:Class MONDO:0001664 biolink:NamedThing submucous uterine fibroid tmpaxzxjjyw_mondo_relaxed.owl submucous leiomyoma of uterus DOID:13222|UMLS:C0153993|SCTID:95279007|ICD9:218.0|ICD10:D25.0 owl:Class MONDO:0002207 biolink:NamedThing vulval Paget disease An uncommon intraepithelial malignant neoplasm of eccrine or apocrine origin, arising from the vulva. It usually affects post-menopausal women. In approximately 10-20% of the cases there is an associated anorectal, or urothelial carcinoma or a skin appendage adenocarcinoma identified. It presents as a red, eczematous lesion. Microscopically, it is characterized by the presence of the typical Paget cells which are large, round cells with abundant cytoplasm and prominent nuclei. tmpaxzxjjyw_mondo_relaxed.owl vulval Paget disease|vulvar Paget's disease|mammalian vulva Paget disease|vulval Paget's disease|vulva Paget's disease|Paget's disease of vulva|Paget disease of the vulva|Paget's disease of the vulva UMLS:C1275217|SCTID:254898001|ICD9:233.39|NCIT:C4027|DOID:2097 owl:Class MONDO:0005921 biolink:NamedThing Plasmodium vivax malaria Malaria resulting from infection by Plasmodium vivax. tmpaxzxjjyw_mondo_relaxed.owl malaria by Plasmodium vivax|vivax malaria EFO:0007445|ICD10:B51.9|NCIT:C34800|ICD9:084.1|MESH:D016780|SCTID:27052006|DOID:12978|UMLS:C0024537|ICD10:B51 owl:Class GO:0042558 biolink:NamedThing pteridine-containing compound metabolic process The chemical reactions and pathways involving any compound containing pteridine (pyrazino(2,3-dipyrimidine)), e.g. pteroic acid, xanthopterin and folic acid. tmpaxzxjjyw_mondo_relaxed.owl pteridine and derivative metabolism|pterin metabolic process|pteridine-containing compound metabolism|pterin metabolism|pteridine and derivative metabolic process owl:Class MONDO:0100053 biolink:NamedThing anaphylaxis An acute hypersensitivity reaction that occurs from exposure to an allergen. It results from the release of histamine and histamine-like substances from mast cells, and can present with breathing difficulty due to narrowed airways, dizziness and hypotension, skin rash, weak pulse, nausea and vomiting. tmpaxzxjjyw_mondo_relaxed.owl anaphylactic shock|systemic anaphylaxis 2018-08-15 17:39:34+00:00 NCIT:C107101 owl:Class UBERON:0005259 biolink:NamedThing lower leg mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000919 biolink:NamedThing ampulla of vater cancer A primary or metastatic malignant neoplasm involving the ampulla of Vater. tmpaxzxjjyw_mondo_relaxed.owl hepatopancreatic ampulla cancer|malignant ampulla of Vater neoplasm|malignant tumor of ampulla of Vater|malignant ampulla of Vater tumor|malignant tumor of the ampulla of Vater|malignant hepatopancreatic ampulla neoplasm|malignant neoplasm of ampulla of Vater|cancer of hepatopancreatic ampulla|malignant neoplasm of hepatopancreatic ampulla|malignant neoplasm of the ampulla of Vater|malignant tumour of ampulla of vater ICD10:C24.1|ICD9:156.2|UMLS:C0153454|SCTID:363417006|NCIT:C3536|DOID:10020 owl:Class GO:0032880 biolink:NamedThing regulation of protein localization Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. tmpaxzxjjyw_mondo_relaxed.owl regulation of protein localisation owl:Class GO:0006766 biolink:NamedThing vitamin metabolic process The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. tmpaxzxjjyw_mondo_relaxed.owl vitamin metabolism owl:Class MONDO:0021583 biolink:NamedThing melanocytic skin neoplasm A melanocytic neoplasm that involves the zone of skin. tmpaxzxjjyw_mondo_relaxed.owl melanocytic skin neoplasm|melanocytic neoplasm of zone of skin|zone of skin melanocytic neoplasm|cutaneous melanocytic neoplasm|melanocytic neoplasm of skin UMLS:C0349501|NCIT:C7161 owl:Class HGNC:25716 biolink:NamedThing COA7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007537 biolink:NamedThing lateral meningocele syndrome tmpaxzxjjyw_mondo_relaxed.owl LMNS|lateral meningocele syndrome|Lehman syndrome|Lms MESH:C537878|ICD10:Q87.5|Orphanet:2789|DOID:0111343|OMIM:130720|GARD:0009873|UMLS:C1851710 owl:Class HGNC:18750 biolink:NamedThing RIN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:9000077 biolink:NamedThing exposure to chlorine An exposure to chlorine molecular entity. tmpaxzxjjyw_mondo_relaxed.owl exposure to chlorine molecular entity owl:Class HGNC:18662 biolink:NamedThing RAX tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032876 biolink:NamedThing neurodevelopmental disorder with absent language and variable seizures tmpaxzxjjyw_mondo_relaxed.owl Ito-Raymond Syndrome|NEDALVS|NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES OMIM:618707 owl:Class MONDO:0018662 biolink:NamedThing autosomal recessive brachyolmia Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. tmpaxzxjjyw_mondo_relaxed.owl brachyolmia, Hobaek/Toledo type|brachyolmia, autosomal recessive OMIM:271530|UMLS:CN237725|ICD10:Q76.3|Orphanet:448242|OMIM:271630 owl:Class HP:0030680 biolink:NamedThing Abnormality of cardiovascular system morphology Any structural anomaly of the heart and great vessels. tmpaxzxjjyw_mondo_relaxed.owl Cardiovascular malformations UMLS:C4049796 HP:0002564|HP:0001632|HP:0002565 human_phenotype owl:Class MONDO:0007122 biolink:NamedThing anisocoria Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (iris diseases) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease. tmpaxzxjjyw_mondo_relaxed.owl anisocoria (disease)|anisocoria anisocoria (disease) OMIM:106240|MESH:D015875|SCTID:13045009|HP:0009916|ICD9:379.41 owl:Class MONDO:0012934 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl leukemia, chronic lymphocytic, susceptibility to, type 3|leukemia, chronic lymphocytic, susceptibility to, 3|Clls3 OMIM:612557|Orphanet:67038 owl:Class MONDO:0024950 biolink:NamedThing horse disease Diseases of domestic and wild horses of the species Equus caballus. tmpaxzxjjyw_mondo_relaxed.owl diseases, horse|horse disease|diseases, equine|equine disease|equine diseases|disease, horse|disease, equine UMLS:C0019940|MESH:D006734 owl:Class MONDO:0012536 biolink:NamedThing osteogenesis imperfecta type 7 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene. tmpaxzxjjyw_mondo_relaxed.owl osteogenesis imperfecta type 7|osteogenesis imperfecta caused by mutation in CRTAP|OI type VII|OI7|osteogenesis imperfecta type VII|CRTAP osteogenesis imperfecta|osteogenesis imperfecta, type VII|OI, type 7|osteogenesis imperfecta, type 7|osteogenesis imperfecta, type IIb|OI type 7|osteogenesis imperfecta, type IIb, formerly GARD:0008701|UMLS:C1853162|Orphanet:216820|Orphanet:216804|DOID:0110337|SCTID:254111008|OMIM:610682|Orphanet:216812|ICD10:Q78.0 owl:Class UBERON:0035322 biolink:NamedThing right common iliac artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009020 biolink:NamedThing left uterine horn tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004423 biolink:NamedThing central nervous system extraskeletal osteosarcoma An osteosarcoma arising from the brain or spinal cord. tmpaxzxjjyw_mondo_relaxed.owl central nervous system osteosarcoma|central nervous system extraskeletal osteosarcoma|osteosarcoma of central nervous system|osteosarcoma of the central nervous system|central nervous system osteosarcoma (disease) UMLS:C1335150|NCIT:C7002|DOID:7994 owl:Class HP:0001080 biolink:NamedThing Biliary tract abnormality An abnormality of the biliary tree. tmpaxzxjjyw_mondo_relaxed.owl Biliary tract disease MSH:D001660|SNOMEDCT_US:105997008|UMLS:C0549613|UMLS:C0005424 human_phenotype owl:Class HP:0004297 biolink:NamedThing Abnormality of the biliary system An abnormality of the biliary system. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0940767 peter 2008-02-20T11:34:00Z human_phenotype owl:Class MONDO:0001096 biolink:NamedThing mediastinum ganglioneuroblastoma A ganglioneuroblastoma arising from the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl ganglioneuroblastoma of mediastinum|ganglioneuroblastoma (disease) of mediastinum|mediastinum ganglioneuroblastoma (disease)|ganglioneuroblastoma of the mediastinum|mediastinal ganglioneuroblastoma DOID:10661|NCIT:C6627|UMLS:C1334653 owl:Class MONDO:0013470 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 7 Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the SCN9A gene. tmpaxzxjjyw_mondo_relaxed.owl generalized epilepsy with febrile seizures plus caused by mutation in SCN9A|SCN9A generalized epilepsy with febrile seizures plus|febrile seizures, familial, 3B|Gefs+, type 7|GEFSP7|generalized epilepsy with febrile seizures plus, type 7 MESH:C567827|DOID:0111295|Orphanet:36387|OMIM:613863 owl:Class MONDO:0008803 biolink:NamedThing Antley-Bixler syndrome Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures. tmpaxzxjjyw_mondo_relaxed.owl trapezoidocephaly synostosis syndrome|trapezoidocephaly-synostosis syndrome|Antley Bixler syndrome|osteodysgenesis, multisynostotic with fractures|multisynostotic osteodysgenesis with long bone fractures|osteodysgenesis, multisynostotic, with fractures Orphanet:83|DOID:0050462|OMIM:201750|SCTID:62964007|ICD10:Q87.0|GARD:0005826 https://rarediseases.info.nih.gov/diseases/5826/antley-bixler-syndrome owl:Class MONDO:0021977 biolink:NamedThing basaloid follicular hamartoma A type of pilosebaceous hamartoma characterized by basal cell epitheliomata, epidermoid cysts and comedones, and epidermal atrophy. tmpaxzxjjyw_mondo_relaxed.owl basaloid follicular hamartoma|basal cell nevus with comedones SCTID:254705003|GARD:0002354|ICD9:706.1|UMLS:C0474964|NCIT:C4749 https://rarediseases.info.nih.gov/diseases/2354/basaloid-follicular-hamartoma owl:Class UBERON:0007771 biolink:NamedThing epidermis gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020595 biolink:NamedThing disorder of retroperitoneum A disease or disorder that involves the retroperitoneal space. tmpaxzxjjyw_mondo_relaxed.owl disease of retroperitoneal space|retroperitoneal space disease|disease or disorder of retroperitoneal space|disorder of retroperitoneal space|retroperitoneal space disease or disorder|retroperitoneal disorder|retroperitoneal disease NCIT:C27667|SCTID:734045002 owl:Class GO:0016840 biolink:NamedThing carbon-nitrogen lyase activity Catalysis of the release of ammonia or one of its derivatives, with the formation of a double bond or ring. Enzymes with this activity may catalyze the actual elimination of the ammonia, amine or amide, e.g. CH-CH(-NH-R) = C=CH- + NH2-R. Others, however, catalyze elimination of another component, e.g. water, which is followed by spontaneous reactions that lead to breakage of the C-N bond, e.g. L-serine ammonia-lyase (EC:4.3.1.17), so that the overall reaction is C(-OH)-CH(-NH2) = CH2-CO- + NH3, i.e. an elimination with rearrangement. The sub-subclasses of EC:4.3 are the ammonia-lyases (EC:4.3.1), lyases acting on amides, amidines, etc. (EC:4.3.2), the amine-lyases (EC:4.3.3), and other carbon-nitrogen lyases (EC:4.3.99). tmpaxzxjjyw_mondo_relaxed.owl other carbon-nitrogen lyase activity owl:Class UBERON:0004148 biolink:NamedThing cardiac vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010058 biolink:NamedThing scapuloperoneal spinal muscular atrophy, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy, scapuloperoneal OMIM:271220|UMLS:CN074295 owl:Class MONDO:0020699 biolink:NamedThing biotin metabolic disease A deficiency in biotin through either inherited or acquired causes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0040872 biolink:NamedThing non-psychogenic polydipsia A form of primary polydipsia not caused by underlying psychiatric symptoms. tmpaxzxjjyw_mondo_relaxed.owl idiopathic polydipsia owl:Class CHEBI:17334 biolink:NamedThing penicillin Any member of the group of substituted penams containing two methyl substituents at position 2, a carboxylate substituent at position 3 and a carboxamido group at position 6. tmpaxzxjjyw_mondo_relaxed.owl penicillins|Penicillin owl:Class MONDO:0016533 biolink:NamedThing apolipoprotein A-II amyloidosis tmpaxzxjjyw_mondo_relaxed.owl hereditary amyloid nephropathy due to apolipoprotein A-II variant|familial amyloid nephropathy due to apolipoprotein A-II variant|AApoAII amyloidosis|familial renal amyloidosis due to apolipoprotein A-II variant|hereditary renal amyloidosis due to apolipoprotein A-II variant UMLS:CN201610|Orphanet:238269|ICD10:E85.0 owl:Class MONDO:0007351 biolink:NamedThing coloboma of macula Coloboma of macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus). It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders. tmpaxzxjjyw_mondo_relaxed.owl macular coloboma|hereditary macular coloboma (subtype)|coloboma of macula|agenesis of macula GARD:0001436|OMIM:120300|Orphanet:98945|ICD10:Q14.8 owl:Class UBERON:0005406 biolink:NamedThing perirenal fat tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000708 biolink:NamedThing Crohn jejunoileitis tmpaxzxjjyw_mondo_relaxed.owl jejunoileitis ICD10:K50.0|DOID:0060188 owl:Class MONDO:0019133 biolink:NamedThing visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO). tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.8|UMLS:CN205657|Orphanet:73246 owl:Class MONDO:0012909 biolink:NamedThing skeletal defects, genital hypoplasia, and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl skeletal defects, genital hypoplasia, and mental retardation|skeletal defects, genital hypoplasia, and intellectual disability UMLS:C2676231|OMIM:612447|MESH:C567306 owl:Class HP:0100871 biolink:NamedThing Abnormality of the palm An abnormality of the palm, that is, of the front of the hand. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the palm UMLS:C4021948 doelkens 2011-11-30T11:21:16Z human_phenotype owl:Class HP:0001155 biolink:NamedThing Abnormality of the hand An abnormality affecting one or both hands. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the hand|Abnormal hands|Hand deformities|Hand anomalies MSH:D006226|SNOMEDCT_US:299033004|UMLS:C0018564 HP:0005858 human_phenotype owl:Class NCBITaxon:6193 biolink:NamedThing Opisthorchiida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6179 biolink:NamedThing Digenea tmpaxzxjjyw_mondo_relaxed.owl flukes|Digenea GC_ID:1 ncbi_taxonomy owl:Class GO:1903304 biolink:NamedThing positive regulation of pyruvate kinase activity Any process that activates or increases the frequency, rate or extent of pyruvate kinase activity. tmpaxzxjjyw_mondo_relaxed.owl activation of ATP:pyruvate 2-O-phosphotransferase activity|activation of phosphoenolpyruvate kinase activity|positive regulation of ATP:pyruvate 2-O-phosphotransferase activity|up-regulation of ATP:pyruvate 2-O-phosphotransferase activity|positive regulation of phosphoenol transphosphorylase activity|activation of pyruvate kinase activity|up regulation of phosphoenolpyruvate kinase activity|upregulation of ATP:pyruvate 2-O-phosphotransferase activity|upregulation of phosphoenol transphosphorylase activity|positive regulation of phosphoenolpyruvate kinase activity|up-regulation of pyruvate kinase activity|upregulation of pyruvate kinase activity|up regulation of ATP:pyruvate 2-O-phosphotransferase activity|up regulation of pyruvate kinase activity|upregulation of phosphoenolpyruvate kinase activity|activation of phosphoenol transphosphorylase activity|up-regulation of phosphoenol transphosphorylase activity|up-regulation of phosphoenolpyruvate kinase activity|up regulation of phosphoenol transphosphorylase activity owl:Class MONDO:0008572 biolink:NamedThing tibia, hypoplasia or aplasia of, with polydactyly tmpaxzxjjyw_mondo_relaxed.owl tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia|tibia, hypoplasia or aplasia of, with polydactyly|THYP Orphanet:988|UMLS:C1861099|DOID:0111564|Orphanet:3332|OMIM:188740|MESH:C566046 owl:Class MONDO:0008626 biolink:NamedThing ureter, bifid or double tmpaxzxjjyw_mondo_relaxed.owl ureter, bifid or double OMIM:191550|MESH:C566012|UMLS:C1860586 owl:Class UBERON:0006877 biolink:NamedThing vasculature of liver tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011903 biolink:NamedThing Charcot-Marie-Tooth disease type 2J Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy. tmpaxzxjjyw_mondo_relaxed.owl CMT2J|Charcot-Marie-Tooth disease, axonal, type 2J|Charcot-Marie-Tooth neuropathy type 2J|Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities|Charcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalities|CMT 2J|Charcot Marie Tooth disease type 2J|autosomal dominant Charcot-Marie-Tooth disease type 2J|Charcot-Marie-Tooth neuropathy, type 2J Orphanet:99943|OMIM:607736|ICD10:G60.0|SCTID:717014003|MESH:C535417|DOID:0110157|GARD:0009198 https://rarediseases.info.nih.gov/diseases/9198/charcot-marie-tooth-disease-type-2j owl:Class MONDO:0007936 biolink:NamedThing macular dystrophy, fenestrated sheen type tmpaxzxjjyw_mondo_relaxed.owl macular dystrophy, fenestrated sheen type OMIM:153890|UMLS:C1835173|MESH:C563607 owl:Class MONDO:0016060 biolink:NamedThing laryngotracheoesophageal cleft A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. tmpaxzxjjyw_mondo_relaxed.owl laryngo-tracheo-esophageal cleft|Larnygeotracheoesophageal cleft|LC|laryngeal cleft|LTEC|laryngo-tracheo-esophageal diastema|congenital cleft larynx|tracheal cleft ICD10:Q32.1|SCTID:232461002|NCIT:C98622|Orphanet:2004|GARD:0003188|MESH:C537875|OMIM:215800 owl:Class MONDO:0015207 biolink:NamedThing non-syndromic esophageal malformation A esophageal malformation that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic esophageal malformation|isolated esophageal malformation Orphanet:108959 owl:Class MONDO:0011922 biolink:NamedThing nonimmune chronic idiopathic neutropenia of adults tmpaxzxjjyw_mondo_relaxed.owl NI-CINA|neutropenia, nonimmune chronic idiopathic, of adults|nonimmune chronic idiopathic neutropenia of adults|adult idiopathic neutropenia OMIM:607847|MESH:C564320|Orphanet:2688|UMLS:C1842930|ICD10:D70 owl:Class MONDO:0004478 biolink:NamedThing pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) that lacks somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes, implying pregerminal center B-cell origin. Microarray gene expression profiling studies have demonstrated the expression of ZAP-70 gene (Syk family tyrosine kinase) in this subset of CLL/CLL. Patients with this variant of CLL/SLL have an unfavorable prognosis compared to those with somatic hypermutations of the IGH genes, with a median survival of approximately 6-8 years. tmpaxzxjjyw_mondo_relaxed.owl chronic lymphocytic leukemia/small lymphocytic lymphoma with unmutated Immunoglobulin heavy chain variable-region Gene|pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma|CLL/SLL with unmutated IGVH NCIT:C37204|DOID:8144|UMLS:C1333038 owl:Class MONDO:0016098 biolink:NamedThing immune-mediated necrotizing myopathy Necrotizing autoimmune myopathy (NAM) is a rare form of idiopathic inflammatory myopathy characterized clinically by acute or subacute proximal muscle weakness, and histopathologically by myocyte necrosis and regeneration without significant inflammation. tmpaxzxjjyw_mondo_relaxed.owl IMNM|NAM|anti-SRP myopathy|autoimmune necrotizing myositis|anti-HMG-CoA myopathy|immune myopathy with myocyte necrosis|necrotizing autoimmune myopathy GARD:0013307|Orphanet:206569|SCTID:715863001|ICD10:G72.4 owl:Class MONDO:0009041 biolink:NamedThing craniosynostosis-intellectual disability-clefting syndrome A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose. tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis-intellectual disability-clefting syndrome|Baraitser Rodeck garner syndrome|craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose|craniosynostosis mental retardation clefting syndrome|craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose|craniosynostosis-mental retardation-clefting syndrome|craniosynostosis intellectual disability clefting syndrome UMLS:C2931663|GARD:0001599|UMLS:C1857472|OMIM:218650|MESH:C565663|MESH:C537906|GARD:0000817 owl:Class GO:0098936 biolink:NamedThing intrinsic component of postsynaptic membrane The component of the postsynaptic membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. tmpaxzxjjyw_mondo_relaxed.owl intrinsic to postsynaptic membrane owl:Class OBO:CHR_9606-chr2p2 biolink:NamedThing 2p2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 47500000 0 hg38 owl:Class CHEBI:33700 biolink:NamedThing proteinogenic amino-acid residue tmpaxzxjjyw_mondo_relaxed.owl canonical amino-acid residues|common amino acid residues|standard amino-acid residues|standard amino acid residues|canonical amino-acid residue|proteinogenic amino-acid residues owl:Class CHEBI:33710 biolink:NamedThing alpha-amino-acid residue tmpaxzxjjyw_mondo_relaxed.owl alpha-amino-acid residues owl:Class UBERON:0005813 biolink:NamedThing tubercle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020205 biolink:NamedThing bulbar conjunctival dermoid or conjunctival dermolipoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98617 owl:Class MONDO:0020204 biolink:NamedThing conjunctival tumor A benign or malignant neoplasm that affects the conjunctiva. Representative examples include papilloma, squamous cell carcinoma, and melanoma. tmpaxzxjjyw_mondo_relaxed.owl tumor of the conjunctiva|neoplasm of the conjunctiva|conjunctiva tumor|conjunctival neoplasm|tumor of conjunctiva|conjunctival tumor|conjunctiva neoplasm|conjunctiva neoplasm (disease)|neoplasm of conjunctiva|conjunctival neoplasms NCIT:C2961|Orphanet:98616 owl:Class GO:0090257 biolink:NamedThing regulation of muscle system process Any process that modulates the frequency, rate or extent of a muscle system process, a multicellular organismal process carried out by any of the organs or tissues in a muscle system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017325 biolink:NamedThing early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. tmpaxzxjjyw_mondo_relaxed.owl early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Orphanet:289266|ICD10:E72.1 owl:Class HGNC:2942 biolink:NamedThing DNAH11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012352 biolink:NamedThing vasculitis, lymphocytic, cutaneous small vessel tmpaxzxjjyw_mondo_relaxed.owl vasculitis, lymphocytic, cutaneous small vessel OMIM:609817|MESH:C565222|UMLS:C1853293 owl:Class MONDO:0014166 biolink:NamedThing paroxysmal nocturnal hemoglobinuria 2 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene. tmpaxzxjjyw_mondo_relaxed.owl paroxysmal nocturnal hemoglobinuria 2|PNH2|paroxysmal nocturnal hemoglobinuria type 2|PIGT paroxysmal nocturnal hemoglobinuria|paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT Orphanet:447|OMIM:615399|UMLS:C3809369 owl:Class MONDO:0100243 biolink:NamedThing inherited paroxysmal nocturnal hemoglobinuria An instance of paroxysmal nocturnal hemoglobinuria that is inherited. tmpaxzxjjyw_mondo_relaxed.owl hereditary paroxysmal nocturnal hemoglobinuria 2022-04-01 OMIM:300818|OMIM:615399|OMIMPS:300818 Reason: duplicate. This will be merged with MONDO:0100244 paroxysmal nocturnal hemoglobinuria. 'paroxysmal nocturnal hemoglobinuria' appears to always be acquired. We therefore do not need to make the distinction between 'acquired' and 'inherited'. http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0003489 biolink:NamedThing respiratory system capillary endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001915 biolink:NamedThing endothelium of capillary tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021935 biolink:NamedThing aspergillus niger infection A infectious disease involving the Aspergillus niger. tmpaxzxjjyw_mondo_relaxed.owl Aspergillus niger infection|infections, Aspergillus niger|Aspergillus niger infection, pulmonary GARD:0009716|MESH:C535390 https://rarediseases.info.nih.gov/diseases/9716/aspergillus-niger-infection owl:Class GO:0045682 biolink:NamedThing regulation of epidermis development Any process that modulates the frequency, rate or extent of epidermis development. tmpaxzxjjyw_mondo_relaxed.owl regulation of hypodermis development|regulation of epidermal development owl:Class MONDO:0001922 biolink:NamedThing pyoureter An abscess that is located in the ureter. tmpaxzxjjyw_mondo_relaxed.owl ureter abscess DOID:1425|UMLS:C0034223|SCTID:85884009|NCIT:C35666|ICD9:593.89 owl:Class MONDO:0100085 biolink:NamedThing cancer of long bone of upper limb A cancer that involves the upper limb long bone. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of upper limb long bone|long bones of upper limb cancer|cancer of long bone of upper extremity|cancer of long bone of fore limb|cancer of long bone of forelimb|cancer of upper extremity long bone|cancer of fore limb long bone|malignant upper limb long bone neoplasm http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007726 biolink:NamedThing hip dysplasia, Beukes type Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. tmpaxzxjjyw_mondo_relaxed.owl premature degenerative osteoarthropathy of the hip|Beukes familial hip dysplasia|hip dysplasia Beukes type|BHD|hip dysplasia, Beukes type|osteoarthropathy, premature degenerative, of hip|Beukes hip dysplasia|Cilliers-Beighton syndrome|BFHD GARD:0002690|DOID:0111367|MESH:C564185|ICD10:Q65.8|Orphanet:2114|OMIM:142669|SCTID:721148005 owl:Class UBERON:0001621 biolink:NamedThing coronary artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021923 biolink:NamedThing Arroyo Garcia Cimadevilla syndrome A syndrome characterized by bilateral anophthalmia (absence of one or both eyes), esophageal atresia (the upper esophagus ends and does not connect with the lower esophagus and stomach), and cryptorchidism (a condition in which one or both of the testes fail to descend from the abdomen into the scrotum). This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl bilateral anophthalmia, esophageal atresia, and right cryptorchidism GARD:0000771|UMLS:C2931494|MESH:C537439 https://rarediseases.info.nih.gov/diseases/771/arroyo-garcia-cimadevilla-syndrome owl:Class MONDO:0001044 biolink:NamedThing esophageal atresia A congenital abnormality of the esophagus in which the upper esophagus ends as a blind pouch and does not connect with the lower esophagus; it is often accompanied by a tracheoesophageal fistula. Signs and symptoms in a newborn with this abnormality include excessive salivation, choking, coughing, and the development of cyanosis and respiratory distress when fed. tmpaxzxjjyw_mondo_relaxed.owl congenital esophageal atresia|congenital atresia of esophagus|esophageal atresia|congenital imperforate esophagus|imperforate esophagus|esophageal atresia (disease)|oesophageal atresia esophageal atresia (disease) HP:0002032|ICD9:750.3|DOID:10485|NCIT:C87072|ICD10:Q39.0|MESH:D004933|GARD:0006381|SCTID:26179002 owl:Class NCIT:C16150 biolink:NamedThing Estrogen Receptor Status tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014637 biolink:NamedThing DOCK2 deficiency tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 40|IMD40|immunodeficiency type 40 UMLS:C4225328|GARD:0012653|Orphanet:447737|ICD10:D81.8|OMIM:616433 https://rarediseases.info.nih.gov/diseases/12653/dock2-deficiency owl:Class MONDO:0006933 biolink:NamedThing pulmonary plasma cell granuloma A tumor-like inflammatory lesion of the lung that is composed of plasma cells and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter. tmpaxzxjjyw_mondo_relaxed.owl granuloma, plasma cell, pulmonary|lymphocytic pseudotumor of lung|sclerosing hemangiocytoma of lung EFO:1001135|DOID:3677|UMLS:C0085269|SCTID:1648002|ICD9:518.89|MESH:D016726 owl:Class MONDO:0020459 biolink:NamedThing unstable hemoglobin disease tmpaxzxjjyw_mondo_relaxed.owl ICD9:282.7|SCTID:18273004|Orphanet:99139|UMLS:C0272006 owl:Class MONDO:0022778 biolink:NamedThing cleft lip palate intellectual disability corneal opacity tmpaxzxjjyw_mondo_relaxed.owl GARD:0001380 https://rarediseases.info.nih.gov/diseases/1380/cleft-lip-palate-mental-retardation-corneal-opacity owl:Class NCBITaxon:39759 biolink:NamedThing Deltavirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2842321 biolink:NamedThing Kolmioviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011083 biolink:NamedThing trichodental syndrome Trichodental syndrome is characterised by the association of fine, dry and short hair with dental anomalies. It has been described in less than 10 families. The mode of transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl TRICHODENTAL dysplasia|kersey syndrome|Tricho-dental syndrome|Tricho-dental dysplasia GARD:0000265|MESH:C536551|UMLS:C0406724|SCTID:277810000|Orphanet:3351|OMIM:601453 https://rarediseases.info.nih.gov/diseases/265/trichodental-syndrome owl:Class HGNC:10387 biolink:NamedThing RPS14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007012 biolink:NamedThing variant Creutzfeldt-Jakob disease A form of Creutzfeldt-Jakob disease that is most commonly contracted after consuming meat from an animal suffering from bovine spongiform encephalopathy. tmpaxzxjjyw_mondo_relaxed.owl vCJD Orphanet:576370|GARD:0009550|NCIT:C26802|SCTID:304603007|ICD10:A81.01|NCIT:C128438|ICD9:046.11|EFO:1001233|DOID:5435|MESH:D016643|UMLS:C0085209|MedDRA:10064199 owl:Class MONDO:0018686 biolink:NamedThing acquired Creutzfeldt-Jakob disease An instance of Creutzfeldt Jacob disease that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired CJD|acquired Creutzfeldt Jacob disease|sporadic CJD UMLS:CN237752|ICD10:A81.0|MESH:C538481|Orphanet:454700|OMIM:123400 MONDO:0025169 owl:Class GO:0012506 biolink:NamedThing vesicle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015259 biolink:NamedThing brachydactyly-mesomelia-intellectual disability-heart defects syndrome Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse). tmpaxzxjjyw_mondo_relaxed.owl brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face|Stratton-Garcia-Young syndrome|brachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic face UMLS:CN199165|GARD:0005036|ICD10:Q87.8|Orphanet:1277 https://rarediseases.info.nih.gov/diseases/5036/brachydactyly-mesomelia-intellectual-disability-heart-defects-syndrome owl:Class CL:2000055 biolink:NamedThing liver dendritic cell Any dendritic cell that is part of a liver. tmpaxzxjjyw_mondo_relaxed.owl hepatic dendritic cell http://www.jleukbio.org/content/66/2/322.abstract TermGenie 2014-10-06T19:16:11Z cell owl:Class GO:0030098 biolink:NamedThing lymphocyte differentiation The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. tmpaxzxjjyw_mondo_relaxed.owl lymphocyte cell differentiation|lymphocytic blood cell differentiation|lymphocyte development owl:Class MONDO:0060782 biolink:NamedThing premalignant hematological system disease A hematologic disorder which does not display the morphologic and/or clinical characteristics of an overt malignancy. Representative examples include atypical lymphoproliferative disorders and myelodysplastic syndromes. tmpaxzxjjyw_mondo_relaxed.owl premalignant hematologic condition UMLS:C1335471|NCIT:C27274 owl:Class MONDO:0015388 biolink:NamedThing polyrrhinia Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair. tmpaxzxjjyw_mondo_relaxed.owl Polyrhinia|Double nose SCTID:716279002|ICD10:Q30.8|Orphanet:141091 owl:Class MONDO:0010682 biolink:NamedThing myoclonic epilepsy, progressive, X-linked tmpaxzxjjyw_mondo_relaxed.owl myoclonic epilepsy, progressive OMIM:310370|Orphanet:308|UMLS:C0751778 TODO check owl:Class UBERON:0003330 biolink:NamedThing submucosa of rectum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014559 biolink:NamedThing progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive type 48|MRT48|intellectual disability, autosomal recessive 48|intellectual disability, autosomal recessive type 48|mental retardation, autosomal recessive 48 UMLS:C4225395|Orphanet:457212|OMIM:616269 owl:Class HGNC:10468 biolink:NamedThing RTN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr12p12 biolink:NamedThing 12p12 (Human) tmpaxzxjjyw_mondo_relaxed.owl 26300000 14600000 hg38 owl:Class MONDO:0023113 biolink:NamedThing familial colorectal cancer Familial colon cancer is a cluster of colon cancer within a family. Most cases of colon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes (mutations) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories. tmpaxzxjjyw_mondo_relaxed.owl hereditary colorectal cancer|colorectal cancer, familial OMIM:114500|UMLS:CN029768|GARD:0008533 https://rarediseases.info.nih.gov/diseases/8533/familial-colorectal-cancer owl:Class MONDO:0010299 biolink:NamedThing hypoxanthine guanine phosphoribosyltransferase partial deficiency Kelley-Seegmiller syndrome (KSS) is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO) leading to urolithiasis, and early-onset gout. tmpaxzxjjyw_mondo_relaxed.owl HPRT1 partial deficiency|hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial|HPRT partial deficiency|hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency|Kelley-Seegmiller syndrome|HPRT-related hyperuricemia|HPRT-related gout|hypoxanthine guanine phosphoribosyltransferase deficiency, grade I|HPRT deficiency, partial|Hprt1 deficiency, partial|gout, HPRT-related|KELLEY-Seegmiller syndrome|HPRT deficiency, grade I MESH:C562583|UMLS:C0268117|ICD10:E79.8|Orphanet:79233|OMIM:300323|ICD9:277.2|SCTID:238007004 owl:Class NCBITaxon:34619 biolink:NamedThing Dermacentor tmpaxzxjjyw_mondo_relaxed.owl Anocentor GC_ID:1 NCBITaxon:139398 ncbi_taxonomy owl:Class MONDO:0020772 biolink:NamedThing epilepsy, juvenile absence, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1|JAE1|EJA1 DOID:0111324|OMIM:607631 owl:Class UBERON:0003557 biolink:NamedThing midbrain arachnoid mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004774 biolink:NamedThing gonococcal iridocyclitis An iridocyclitis (disease) caused by infection with Neisseria gonorrhoeae. tmpaxzxjjyw_mondo_relaxed.owl Neisseria gonorrhoeae iridocyclitis (disease)|Neisseria gonorrhoeae caused iridocyclitis (disease) SCTID:9091006|ICD9:098.41|UMLS:C0153212|ICD10:A54.32|DOID:9384 owl:Class MONDO:0020060 biolink:NamedThing gonosome structural anomaly tmpaxzxjjyw_mondo_relaxed.owl Sex-chromosome structural anomaly 2022-04-01 Orphanet:98157 Reason: grouping class. Term to consider: none owl:Class MONDO:0015523 biolink:NamedThing epithelioid hemangioendothelioma A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. tmpaxzxjjyw_mondo_relaxed.owl malignant epithelioid hemangioendothelioma|epithelioid angiosarcoma|epithelioid angioendothelioma|epithelioid hemangioendothelioma Orphanet:157791|ICDO:9133/1|ONCOTREE:EHAE|NCIT:C3800|ICD10:D18.0|DOID:0080190|ICDO:9130/3|SCTID:54124005|ICDO:9133/3|MESH:D018323|UMLS:C0206732 https://github.com/monarch-initiative/mondo/issues/3741 owl:Class MONDO:0017703 biolink:NamedThing disorder of glyoxylate metabolism tmpaxzxjjyw_mondo_relaxed.owl disorder of glyoxylate metabolism UMLS:CN227177|Orphanet:308998 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0008946 biolink:NamedThing lung parenchyma tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001320 biolink:NamedThing Cerebellar vermis hypoplasia Underdevelopment of the vermis of cerebellum. tmpaxzxjjyw_mondo_relaxed.owl Cerebellar vermal hypoplasia|Hypoplasia of the cerebellar vermis|Hypoplastic cerebellar vermis UMLS:C1840379 human_phenotype owl:Class UBERON:1000024 biolink:NamedThing parenchyma of spleen tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr6q16 biolink:NamedThing 6q16 (Human) tmpaxzxjjyw_mondo_relaxed.owl 105000000 92500000 hg38 owl:Class MONDO:0010850 biolink:NamedThing Tessier number 4 facial cleft tmpaxzxjjyw_mondo_relaxed.owl facial clefting, oblique, 1|facial clefting, oblique, type 1|OBLFC1|oculomaxillofacial dysplasia with oblique Facial clefts ICD10:Q18.8|Orphanet:141258|OMIM:600251|UMLS:C1838348 owl:Class HGNC:29022 biolink:NamedThing SPECC1L tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001867 biolink:NamedThing complement activation, lectin pathway Any process involved in the activation of any of the steps of the lectin pathway of the complement cascade which allows for the direct killing of microbes and the regulation of other immune processes. tmpaxzxjjyw_mondo_relaxed.owl complement cascade, lectin pathway owl:Class MONDO:0016453 biolink:NamedThing foodborne botulism Foodborne botulism is the most common form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis due to botulinum neurotoxins (BoNTs). It is caused by consumption of contaminated food containing BoNTs. tmpaxzxjjyw_mondo_relaxed.owl intoxication botulism ICD9:005.1|SCTID:398523009|NCIT:C128341|ICD10:A05.1|DOID:0050352|Orphanet:228371|UMLS:C1739094 owl:Class UBERON:0001076 biolink:NamedThing neural spine tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006224 biolink:NamedThing elbow joint primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:28929 biolink:NamedThing KRT74 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10778 biolink:NamedThing SFRP4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9456 biolink:NamedThing PROS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010235 biolink:NamedThing uvular muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:30751 biolink:NamedThing formic acid The simplest carboxylic acid, containing a single carbon. Occurs naturally in various sources including the venom of bee and ant stings, and is a useful organic synthetic reagent. Principally used as a preservative and antibacterial agent in livestock feed. Induces severe metabolic acidosis and ocular injury in human subjects. tmpaxzxjjyw_mondo_relaxed.owl Methanoic acid|Ameisensaeure|Acide formique|methoic acid|hydrogen carboxylic acid|formylic acid|formic acid|bilorin|HCO2H|FORMIC ACID|Formic acid|aminic acid|HCOOH|H-COOH owl:Class MONDO:0014342 biolink:NamedThing female infertility due to zona pellucida defect Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa. tmpaxzxjjyw_mondo_relaxed.owl oocyte maturation defect|OOMD|OOMD1|oocyte maturation defect 1 OMIM:615774|UMLS:C4014291|Orphanet:404466|ICD10:N97.8 owl:Class HGNC:13187 biolink:NamedThing ZP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013168 biolink:NamedThing dilated cardiomyopathy 1DD Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the RBM20 gene. tmpaxzxjjyw_mondo_relaxed.owl RBM20 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1Dd|cardiomyopathy, dilated, 1DD|CMD1DD|dilated cardiomyopathy type 1DD|familial isolated dilated cardiomyopathy caused by mutation in RBM20 DOID:0110447|ICD10:I42.0|OMIM:613172|MESH:C567725|UMLS:C2750995 owl:Class GO:0070130 biolink:NamedThing negative regulation of mitochondrial translation Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of mitochondrial protein formation|negative regulation of mitochondrial protein synthesis|negative regulation of mitochondrial protein anabolism|negative regulation of mitochondrial protein biosynthesis owl:Class UBERON:0008229 biolink:NamedThing craniocervical region musculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class Nb64f7d45851441669dbccba74110413e biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:6256 biolink:NamedThing KCNJ10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1388 biolink:NamedThing CACNA1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014215 biolink:NamedThing primary ciliary dyskinesia 27 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene. tmpaxzxjjyw_mondo_relaxed.owl ciliary dyskinesia, primary, 27|primary ciliary dyskinesia type 27|primary ciliary dyskinesia caused by mutation in CCDC65|ciliary dyskinesia, primary, type 27|CCDC65 primary ciliary dyskinesia|primary ciliary dyskinesia 27 without situs inversus|CILD27|ciliary dyskinesia, primary, 27, without situs inversus UMLS:C3809701|OMIM:615504|ICD10:Q34.8|DOID:0110611 owl:Class HGNC:29937 biolink:NamedThing CCDC65 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013081 biolink:NamedThing lymphoproliferative syndrome 1 A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.. tmpaxzxjjyw_mondo_relaxed.owl lymphoproliferative syndrome caused by mutation in ITK|LPFS1|lymphoproliferative syndrome type 1|ITK lymphoproliferative syndrome|lymphoproliferative syndrome 1|ITK deficiency ICD10:D47.9|Orphanet:538963|NCIT:C126344|DOID:0060707|MESH:C567815|Orphanet:238505|UMLS:C3552634|OMIM:613011 owl:Class HGNC:6171 biolink:NamedThing ITK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013835 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene. tmpaxzxjjyw_mondo_relaxed.owl Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related|ISPD muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD|MDDGA7|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 UMLS:C3553330|OMIM:614643|Orphanet:899|DOID:0111234 owl:Class HP:0000278 biolink:NamedThing Retrognathia An abnormality in which the mandible is mislocalised posteriorly. tmpaxzxjjyw_mondo_relaxed.owl Weak jaw|Retrognathia of lower jaw|Receding mandible|Lower jaw retrognathia|Retrogenia|Receding chin|Receding lower jaw|Weak chin MSH:D063173|UMLS:C3494422 HP:0002954|HP:0002053 human_phenotype owl:Class HGNC:15506 biolink:NamedThing TSEN34 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018124 biolink:NamedThing Oncogenic osteomalacia Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer. The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed. tmpaxzxjjyw_mondo_relaxed.owl OOM|TIO|tumor-induced osteomalacia|Oncogenic hypophosphatemic osteomalacia|OO NCIT:C67235|ICD10:M83.8|SCTID:392559009|Orphanet:352540|UMLS:C1274103|MESH:C537751|GARD:0009652 https://rarediseases.info.nih.gov/diseases/9652/oncogenic-osteomalacia owl:Class UBERON:0011932 biolink:NamedThing pilosebaceous unit tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009251 biolink:NamedThing fructose-1,6-bisphosphatase deficiency Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants. tmpaxzxjjyw_mondo_relaxed.owl fructose 1 phosphate aldolase deficiency|baker-Winegrad disease|fructose-1,6-bisphosphatase deficiency|fructose 1,6 diphosphatase deficiency|fructose-1,6-diphosphatase deficiency|FBP1D GARD:0002400|Orphanet:348|ICD10:E74.1|OMIM:229700|NCIT:C128119|ICD10:E74.19|SCTID:28183005|DOID:5204|UMLS:C0016756 owl:Class HP:0001942 biolink:NamedThing Metabolic acidosis Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. tmpaxzxjjyw_mondo_relaxed.owl MSH:D000138|UMLS:C0220981|SNOMEDCT_US:59455009 The Henderson-Hasselbalch method defines metabolic acidosis by the presence of an acid-base imbalance associated with a plasma bicarbonate concentration below 20 mmol/L. The association of this imbalance with decreased pH is called acidemia, which is often described as severe when the pH is equal to or below 7.20. Arterial blood gas measurements can be performed in patients with a decreased plasma bicarbonate level so as to eliminate respiratory alkalosis, confirm the diagnosis of metabolic acidosis, and test for mixed acidosis. HP:0004907|HP:0004895 human_phenotype owl:Class UBERON:0004761 biolink:NamedThing cartilaginous neurocranium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006247 biolink:NamedThing iliac pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002811 biolink:NamedThing left frontal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2001234 biolink:NamedThing negative regulation of apoptotic signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of apoptotic signalling pathway owl:Class MONDO:0008327 biolink:NamedThing exfoliation syndrome An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma. tmpaxzxjjyw_mondo_relaxed.owl XFS|pseudoexfoliation syndrome|exfoliation syndrome|XFG|pseudoexfoliation glaucoma|pseudoexfoliation of the lens|exfoliation glaucoma UMLS:C0206368|OMIM:177650|ICD9:365.52|EFO:0004235|NCIT:C129025|Orphanet:529819|MESH:D017889|DOID:13641|SCTID:111514006 owl:Class HGNC:6665 biolink:NamedThing LOXL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100337 biolink:NamedThing SEC61A1 deficiency Any Mendelian disease in which the cause of the disease is a mutation in the SEC61A1 gene. It is characterized by variable presentation of phenotypes in patients, including autosomal dominant tubulointerstitial kidney disease, primary antibody deficiency, and severe congenital neutropenia. tmpaxzxjjyw_mondo_relaxed.owl SEC61A1 deficiency The term autosomal dominant tubulointerstitial kidney disease (ADTKD), is recommended to be used instead of familial juvenile hyperurecemic nephropathy. http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:18276 biolink:NamedThing SEC61A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008680 biolink:NamedThing Wilms tumor 2 tmpaxzxjjyw_mondo_relaxed.owl familial Wilms tumor 2|Wilms tumor 2|FWT2|WT2|Wilms tumor type 2 MESH:C536853|GARD:0008559|Orphanet:654|OMIM:194071 https://rarediseases.info.nih.gov/diseases/8559/familial-wilms-tumor-2 owl:Class HGNC:25088 biolink:NamedThing SGO1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035648 biolink:NamedThing nerve innervating pinna tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044627 biolink:NamedThing acute macular neuroretinopathy tmpaxzxjjyw_mondo_relaxed.owl AMNR Orphanet:488239 owl:Class UBERON:0004905 biolink:NamedThing articulation tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015031 biolink:NamedThing protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl enzyme transport owl:Class MONDO:0013605 biolink:NamedThing brittle cornea syndrome 2 Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene. tmpaxzxjjyw_mondo_relaxed.owl brittle cornea syndrome caused by mutation in PRDM5|BCS2|brittle cornea syndrome type 2|PRDM5 brittle cornea syndrome|brittle cornea syndrome 2 OMIM:614170|UMLS:C3280011|Orphanet:90354 owl:Class HGNC:9349 biolink:NamedThing PRDM5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000976 biolink:NamedThing transcription cis-regulatory region binding Binding to a specific sequence of DNA that is part of a regulatory region that controls transcription of that section of the DNA. The transcribed region might be described as a gene, cistron, or operon. tmpaxzxjjyw_mondo_relaxed.owl transcription regulatory region sequence-specific DNA binding|regulatory region DNA binding|transcription regulatory region DNA binding owl:Class MONDO:0018771 biolink:NamedThing congenital anomaly of ventricular septum A congenital heart malformation that involves the interventricular septum. tmpaxzxjjyw_mondo_relaxed.owl interventricular septum congenital heart malformation|congenital ventricular septal anomaly|congenital heart malformation of interventricular septum|congenital anomaly of interventricular communication|rare congenital anomaly of ventricular septum Orphanet:474347 owl:Class UBERON:0008192 biolink:NamedThing tendon of triceps brachii tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006215 biolink:NamedThing rhombic lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005192 biolink:NamedThing deferent duct artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001310 biolink:NamedThing umbilical artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033281 biolink:NamedThing polycystic kidney disease 5 Any polycystic kidney disease in which the cause of the disease is a mutation in the DZIP1L gene. tmpaxzxjjyw_mondo_relaxed.owl PKD5|polycystic kidney disease caused by mutation in DZIP1L|DZIP1L polycystic kidney disease|polycystic kidney disease 5 DOID:0080273|OMIM:617610 owl:Class HGNC:26551 biolink:NamedThing DZIP1L tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000134 biolink:NamedThing 40-year-old human stage Adult stage that refers to an adult who is over 40 and under 41. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003456 biolink:NamedThing respiratory system lymphatic vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2666 biolink:NamedThing DAG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009426 biolink:NamedThing hypoparathyroidism-retardation-dysmorphism syndrome Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. tmpaxzxjjyw_mondo_relaxed.owl hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism with short stature, intellectual disability and seizures|HRD syndrome|hypoparathyroidism-short stature-intellectual disability-seizures syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay|hypoparathyroidism with short stature, intellectual disability, and seizures|Richardson-Kirk syndrome|HRDS|hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay|hypoparathyroidism with short stature, mental retardation and seizures|hypoparathyroidism-retardation-dysmorphism syndrome|HRD|SSS|hypoparathyroidism with short stature, mental retardation, and seizures|Sanjad-Sakati syndrome UMLS:C1855840|Orphanet:2323|DOID:0060348|OMIM:241410|NCIT:C133727|MESH:C537157|GARD:0000411|ICD10:Q87.1 owl:Class MONDO:0013195 biolink:NamedThing hypertrophic cardiomyopathy 13 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene. tmpaxzxjjyw_mondo_relaxed.owl CMH13|cardiomyopathy familial hypertrophic 13|hypertrophic cardiomyopathy caused by mutation in TNNC1|cardiomyopathy, familial hypertrophic, type 13|cardiomyopathy, familial hypertrophic, 13|hypertrophic cardiomyopathy type 13|TNNC1 hypertrophic cardiomyopathy UMLS:C2750472|OMIM:613243|DOID:0110319|MESH:C567686 owl:Class MONDO:0004984 biolink:NamedThing basal-like breast carcinoma A biologic subset of breast carcinoma defined by high expression of genes characteristic of basal epithelial cells, including KRT5 and KRT17, annexin 8, CX3CL1, and TRIM29, and usually by lack of expression of the estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). It is the most common subtype of breast cancer associated with BRCA1 mutations, and is associated with a poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl basal-like subtype of breast carcinoma|basal-like breast carcinoma|basal-like breast cancer NCIT:C53558|EFO:0000281|UMLS:C3642347 owl:Class NCIT:C38328 biolink:NamedThing Unfavorable Clinical Outcome tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:15740 biolink:NamedThing formate A monocarboxylic acid anion that is the conjugate base of formic acid. Induces severe metabolic acidosis and ocular injury in human subjects. tmpaxzxjjyw_mondo_relaxed.owl aminate|formylate|methanoate|hydrogen carboxylate|formic acid, ion(1-)|HCO2 anion|formate|formiate owl:Class MONDO:0017283 biolink:NamedThing facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion tmpaxzxjjyw_mondo_relaxed.owl 10p12p11 microdeletion syndrome|monosomy 10p11.21p12.31|deletion 10p11.21p12.31|Del(10)(p11.21p12.31) ICD10:Q83.5|UMLS:CN202845|Orphanet:284169|OMIM:616708 owl:Class GO:0033081 biolink:NamedThing regulation of T cell differentiation in thymus Any process that modulates the frequency, rate or extent of T cell differentiation in the thymus. tmpaxzxjjyw_mondo_relaxed.owl regulation of thymocyte cell differentiation|regulation of thymic T cell differentiation|regulation of thymocyte differentiation|regulation of T cell development in thymus owl:Class MONDO:0014181 biolink:NamedThing amyotrophic lateral sclerosis type 20 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the HNRNPA1 gene. tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in HNRNPA1|HNRNPA1 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 20|amyotrophic lateral sclerosis type 20|ALS20 OMIM:615426|DOID:0060211|UMLS:C3715156|Orphanet:803 owl:Class HGNC:5031 biolink:NamedThing HNRNPA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001572 biolink:NamedThing hyoglossus muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003053 biolink:NamedThing choroid plexus meningioma A meningioma that affects the choroid plexus. tmpaxzxjjyw_mondo_relaxed.owl meningioma (disease) of choroid plexus|choroid plexus meningioma|choroid plexus meningioma (disease)|choroid meningioma (morphologic abnormality)|meningioma of choroid plexus|meningioma of the choroid plexus DOID:4584|UMLS:C0431118|NCIT:C4719 owl:Class UBERON:0005953 biolink:NamedThing outflow part of right ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010983 biolink:NamedThing levator scapulae pre-muscle mass tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007844 biolink:NamedThing hypogonadotropic hypogonadism 2 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene. tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropic hypogonadism 2 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in FGFR1|Kallmann syndrome 2|KAL2|FGFR1 hypogonadotropic hypogonadism|HH2 ICD10:E23.0|DOID:0090083|GARD:0003070|UMLS:C1563720|OMIM:147950 owl:Class MONDO:0011919 biolink:NamedThing autoimmune disease, susceptibility to, 1 Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene. tmpaxzxjjyw_mondo_relaxed.owl autoimmune disease caused by mutation in FOXD3|AIS1|susceptibility to autoimmune disease 1|vitiligo-associated multiple autoimmune disease susceptibility 2|autoimmune disease susceptibility locus, chromosome 1P-related|autoimmune disease, susceptibility to, type 1|FOXD3 autoimmune disease|autoimmune disease, susceptibility to, 1 OMIM:607836 owl:Class MONDO:0027068 biolink:NamedThing mitochondrial complex 1 deficiency, mitochondrial type 1 Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial complex I deficiency, mitochondrial type 1|MC1DM1 OMIM:500014 owl:Class HGNC:7458 biolink:NamedThing MT-ND3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005677 biolink:NamedThing Rickettsia conorii infectious disease tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11179 biolink:NamedThing SOD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011171 biolink:NamedThing joint connecting upper and lower jaws tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003287 biolink:NamedThing central nervous system leiomyoma A benign smooth muscle neoplasm arising from the central nervous system. It is characterized by the presence of intersecting fascicles composed of spindle cells that often lack mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl central nervous system leiomyoma|leiomyoma of central nervous system|leiomyoma of the CNS|leiomyoma of CNS|leiomyoma of the central nervous system NCIT:C6998|DOID:5126|UMLS:C1334382 owl:Class UBERON:0004684 biolink:NamedThing raphe nuclei tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002275 biolink:NamedThing reticular formation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018774 biolink:NamedThing erythrokeratodermia-cardiomyopathy syndrome A rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis. tmpaxzxjjyw_mondo_relaxed.owl EKC syndrome Orphanet:476096|UMLS:CN776912 https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0013453 biolink:NamedThing Leber congenital amaurosis 8 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene. tmpaxzxjjyw_mondo_relaxed.owl Leber congenital amaurosis type 8|Leber congenital amaurosis 8|LCA8|CRB1 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in CRB1 ICD10:H35.5|UMLS:C3151202|OMIM:613835|GARD:0010881|DOID:0110079 https://rarediseases.info.nih.gov/diseases/10881/leber-congenital-amaurosis-8 owl:Class HGNC:2343 biolink:NamedThing CRB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8860 biolink:NamedThing PEX7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29945 biolink:NamedThing TENM4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011945 biolink:NamedThing Gaucher disease perinatal lethal Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD). tmpaxzxjjyw_mondo_relaxed.owl Gaucher's disease perinatal lethal|fetal Gaucher disease|Gaucher disease perinatal lethal|Gaucher disease, perinatal lethal|Gaucher disease, collodion type|Gaucher disease collodion type|perinatal lethal Gaucher disease|Gaucher disease, perinatal-lethal form DOID:0110960|MESH:C564306|GARD:0010675|ICD10:E75.2|Orphanet:85212|Orphanet:355|UMLS:C1842704|OMIM:608013 https://rarediseases.info.nih.gov/diseases/10675/gaucher-disease-perinatal-lethal owl:Class HGNC:4177 biolink:NamedThing GBA tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043400 biolink:NamedThing cortisol secretion The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. tmpaxzxjjyw_mondo_relaxed.owl hydrocortisone secretion owl:Class UBERON:0001673 biolink:NamedThing central retinal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13356 biolink:NamedThing MCOLN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012721 biolink:NamedThing progressive myoclonic epilepsy type 3 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene. tmpaxzxjjyw_mondo_relaxed.owl progressive myoclonic epilepsy due to KCTD7 deficiency|EPM3|epilepsy progressive myoclonic type 3|PME type 3|EPM 3|KCTD7 progressive myoclonic epilepsy|progressive myoclonic epilepsy 3|progressive myoclonic epilepsy type 3|progressive myoclonic epilepsy caused by mutation in KCTD7|epilepsy, progressive myoclonic, 3, with or without intracellular inclusions|ceroid lipofuscinosis, neuronal, 14|progressive myoclonus epilepsy type 3 ICD10:G40.3|DOID:0111446|Orphanet:263516|GARD:0002167|MESH:C567095|OMIM:611726|UMLS:C2673257 https://rarediseases.info.nih.gov/diseases/2167/epilepsy-progressive-myoclonic-type-3 owl:Class HGNC:21957 biolink:NamedThing KCTD7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007650 biolink:NamedThing esophagogastric junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006033 biolink:NamedThing diffuse intrinsic pontine glioma A neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl infiltrative brainstem glioma|DIPG NCIT:C94764|UMLS:C2986658|Orphanet:497188|GARD:0013075|ONCOTREE:DIPG|EFO:1000026 https://rarediseases.info.nih.gov/diseases/13075/diffuse-intrinsic-pontine-glioma owl:Class HGNC:4198 biolink:NamedThing GCM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007265 biolink:NamedThing Ras protein signal transduction A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. tmpaxzxjjyw_mondo_relaxed.owl Ras mediated signal transduction owl:Class UBERON:0004382 biolink:NamedThing epiphysis of humerus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6240 biolink:NamedThing KCNE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004105 biolink:NamedThing childhood epithelioid sarcoma An epithelioid sarcoma occurring in childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric epithelioid sarcoma|epithelioid sarcoma of childhood|childhood epithelioid sarcoma|epithelioid sarcoma UMLS:C0279989|DOID:7095|NCIT:C8095 owl:Class UBERON:0003319 biolink:NamedThing mesenchyme of carpal region tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042755 biolink:NamedThing eating behavior The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue. tmpaxzxjjyw_mondo_relaxed.owl eating behaviour owl:Class HP:0009743 biolink:NamedThing Distichiasis Double rows of eyelashes. tmpaxzxjjyw_mondo_relaxed.owl Distichiasis of eyelid eyelashes SNOMEDCT_US:95339000|UMLS:C0423848 Distichiasis can be defined as the abnormal growth of lashes from the orifices of the Meibomian glands on the posterior lamella of the tarsal plate, resulting in a double row of eyelashes. peter 2009-01-31T02:07:50Z human_phenotype owl:Class HGNC:6215 biolink:NamedThing KARS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019083 biolink:NamedThing Leigh syndrome with cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy with myopathy due to COX deficiency|Leigh disease with myopathy|cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency ICD10:G31.8|Orphanet:70474|UMLS:CN205578|OMIM:256000 owl:Class HP:0002321 biolink:NamedThing Vertigo An abnormal sensation of spinning while the body is actually stationary. tmpaxzxjjyw_mondo_relaxed.owl Dizzy spell|Dizziness UMLS:C0012833|SNOMEDCT_US:271789005|SNOMEDCT_US:404640003|MSH:D004244|MSH:D014717|SNOMEDCT_US:399090003|UMLS:C0042571|SNOMEDCT_US:399153001 human_phenotype owl:Class HGNC:3756 biolink:NamedThing FLNC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003301 biolink:NamedThing dartoic leiomyoma A cutaneous leiomyoma arising from the dartos muscle of the scrotum or labia majora. tmpaxzxjjyw_mondo_relaxed.owl dartoic leiomyoma|dartoic myoma|dartos muscle leiomyoma|leiomyoma of dartos muscle NCIT:C4483|ICD9:215.9|UMLS:C0346066|DOID:5147|SCTID:254770007 owl:Class UBERON:0013718 biolink:NamedThing dartos muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002246 biolink:NamedThing wound healing involved in inflammatory response The series of events that restore integrity to damaged tissue that contribute to an inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl inflammatory response wound healing|healing during inflammatory response owl:Class GO:0090594 biolink:NamedThing inflammatory response to wounding The immediate defensive reaction by vertebrate tissue to injury caused by chemical or physical agents. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001524 biolink:NamedThing frozen land Land which is below the freezing point of water. tmpaxzxjjyw_mondo_relaxed.owl frozen ground owl:Class MONDO:0024675 biolink:NamedThing adult kidney Wilms tumor Wilms tumor of the kidney which occurs in adults. tmpaxzxjjyw_mondo_relaxed.owl adult renal Wilms' tumor|kidney Wilms tumor of adults|adult renal Wilms tumor|adult nephroblastoma|adult kidney adenosarcoma|adenosarcoma of the adult kidney|adult kidney Wilms tumor|adenosarcoma of adult kidney|adult renal adenosarcoma NCIT:C6180|UMLS:C1332219 owl:Class HGNC:2388 biolink:NamedThing CRYAA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033043 biolink:NamedThing spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy tmpaxzxjjyw_mondo_relaxed.owl SPAX8|spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy|spastic ataxia 8 Orphanet:527497|OMIM:617560|UMLS:C4479653|DOID:0080252 owl:Class MONDO:0014641 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 4 An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14. tmpaxzxjjyw_mondo_relaxed.owl FTDALS4|frontotemporal dementia and/or amyotrophic lateral sclerosis 4|frontotemporal dementia and/or amyotrophic lateral sclerosis type 4 Orphanet:275872|OMIM:616439|DOID:0110069|UMLS:C4225325 owl:Class MONDO:0014560 biolink:NamedThing amelogenesis imperfecta type 1F Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene. tmpaxzxjjyw_mondo_relaxed.owl amelogenesis imperfecta, hypoplastic type 1F|amelogenesis imperfecta type IF|AI1F|AMBN amelogenesis imperfecta|amelogenesis imperfecta, type 1F|amelogenesis imperfecta caused by mutation in AMBN|amelogenesis imperfecta hypoplastic type IF|amelogenesis imperfecta, type IF OMIM:616270|ICD10:K00.5|DOID:0110065|UMLS:C4225394|Orphanet:100031 owl:Class HGNC:452 biolink:NamedThing AMBN tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010566 biolink:NamedThing Hamartoma A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:400006008|SNOMEDCT_US:51398009|MSH:D006222|UMLS:C0018552 sandra1 2009-10-16T02:51:16Z human_phenotype owl:Class UBERON:0006717 biolink:NamedThing autopodial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010669 biolink:NamedThing syndactyly type 8 Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers. tmpaxzxjjyw_mondo_relaxed.owl metacarpals 4 and 5 fusion|fusion of metacarpals 4 and 5|non-syndromic syndactyly caused by mutation in FGF16|MF4|FGF16 non-syndromic syndactyly|metacarpal 4-5 fusion OMIM:309630|UMLS:C1839728|SCTID:715442006|Orphanet:2498|MESH:C564100|ICD10:Q70.0|GARD:0003559 https://rarediseases.info.nih.gov/diseases/3559/metacarpals-4-and-5-fusion owl:Class HGNC:3672 biolink:NamedThing FGF16 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014511 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2S Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 2S|autosomal recessive axonal Charcot-Marie-Tooth type 2S|CMT2S|Charcot-Marie-Tooth disease caused by mutation in IGHMBP2|IGHMBP2 Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S|Charcot-Marie-Tooth disease type 2S|Charcot-Marie-Tooth disease, axonal, type 2S|Charcot-Marie-Tooth neuropathy, type 2S UMLS:C4015349|Orphanet:443073|ICD10:G60.0|DOID:0110171|OMIM:616155 owl:Class HGNC:5542 biolink:NamedThing IGHMBP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011742 biolink:NamedThing aortic valve leaflet tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010172 biolink:NamedThing bulb of aorta tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030317 biolink:NamedThing flagellated sperm motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. tmpaxzxjjyw_mondo_relaxed.owl sperm flagellum movement|sperm motility|flagellated sperm movement|sperm flagellum movement involved in flagellated sperm movement|sperm movement|sperm flagellum movement involved in flagellated sperm motility owl:Class GO:0048193 biolink:NamedThing Golgi vesicle transport The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. tmpaxzxjjyw_mondo_relaxed.owl Golgi-derived vesicle transport owl:Class MONDO:0007044 biolink:NamedThing acrodysostosis 1 with or without hormone resistance An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding. tmpaxzxjjyw_mondo_relaxed.owl acrodysostosis 1|ADOHR|ACRDYS1|acrodysostosis 1 with or without hormone resistance OMIM:101800|Orphanet:280651|Orphanet:950|NCIT:C136464|UMLS:C3276228 owl:Class UBERON:0002007 biolink:NamedThing medulla of lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010343 biolink:NamedThing Asperger syndrome, X-linked, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl susceptibility to X-linked asperger syndrome 2|ASPGX2|Asperger syndrome, X-linked, susceptibility to, 2|ASPERGER syndrome, X-linked, susceptibility to, 2|Asperger syndrome, X-linked, susceptibility to, type 2 OMIM:300497 owl:Class ENVO:01000016 biolink:NamedThing silt Silt is granular material of a size somewhere between sand and clay whose mineral origin is quartz and feldspar. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:17310 biolink:NamedThing pyridoxal A pyridinecarbaldehyde that is pyridine-4-carbaldehyde bearing methyl, hydroxy and hydroxymethyl substituents at positions 2, 3 and 5 respectively. The 4-carboxyaldehyde form of vitamin B6, it is converted into pyridoxal phosphate, a coenzyme for the synthesis of amino acids, neurotransmitters, sphingolipids and aminolevulinic acid. tmpaxzxjjyw_mondo_relaxed.owl 3-hydroxy-5-(hydroxymethyl)-2-methylpyridine-4-carbaldehyde|pyridoxal|Pyridoxal|3-HYDROXY-5-(HYDROXYMETHYL)-2-METHYLISONICOTINALDEHYDE|pyridoxaldehyde owl:Class CHEBI:131530 biolink:NamedThing pyridoxal(1+) A pyridinium ion obtained by protonation of the ring nitrogen of pyridoxal. tmpaxzxjjyw_mondo_relaxed.owl pyridoxal cation|4-formyl-3-hydroxy-5-(hydroxymethyl)-2-methylpyridin-1-ium owl:Class MONDO:0010297 biolink:NamedThing FG syndrome 2 Any FG syndrome in which the cause of the disease is a mutation in the FLNA gene. tmpaxzxjjyw_mondo_relaxed.owl FGS2|FLNA FG syndrome|FG syndrome caused by mutation in FLNA|FG syndrome 2|FG syndrome type 2 GARD:0009923|UMLS:C1845902|Orphanet:323|OMIM:300321 https://rarediseases.info.nih.gov/diseases/9923/fg-syndrome-2 owl:Class MONDO:0007728 biolink:NamedThing acne inversa, familial, 1 Any familial acne inversa in which the cause of the disease is a mutation in the NCSTN gene. tmpaxzxjjyw_mondo_relaxed.owl familial acne inversa caused by mutation in NCSTN|acne inversa, familial|acne inversa, familial, type 1|acne inversa, familial, 1|hidradenitis suppurativa, familial|NCSTN familial acne inversa|ACNINV1 UMLS:CN028850|OMIM:142690 owl:Class UBERON:0001282 biolink:NamedThing intralobular bile duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014969 biolink:NamedThing isolated sedoheptulokinase deficiency tmpaxzxjjyw_mondo_relaxed.owl sedoheptulokinase deficiency|SHPKD|isolated SHPK deficiency Orphanet:440713|UMLS:C1291373|SCTID:124309005|ICD9:277.6|OMIM:617213 owl:Class HGNC:1492 biolink:NamedThing SHPK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012381 biolink:NamedThing hyperinsulinism due to INSR deficiency Hyperinsulinemic hypoglycemia due to INSR deficiency is a very rare autosomal dominant form of familial hyperinsulinism characterized clinically in the single reported family by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio, and a variable age of onset. tmpaxzxjjyw_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to INSR deficiency|HHF5|hyperinsulinemic hypoglycemia, familial, 5|hyperinsulinemic hypoglycemia due to insulin receptor deficiency|hyperinsulinemic hypoglycemia, familial, type 5 SCTID:721235003|UMLS:C1864952|OMIM:609968|Orphanet:263458|ICD10:E16.1|MESH:C566494|DOID:0070220 owl:Class MONDO:0018014 biolink:NamedThing transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal multiple acyl-CoA dehydrogenase deficiency describes a very rare condition where a maternal riboflavin deficiency causes an infant to present with manifestations similar to those seen in multiple acyl-CoA dehydrogenase (MAD) deficiency such as poor suck, metabolic acidosis and hypoglycemia, but that resolves completely with oral riboflavin. In the one patient described haploinsufficiency of the human riboflavin transporter (hRFT1) was described in the mother. tmpaxzxjjyw_mondo_relaxed.owl transient neonatal MADD|transient neonatal glutaric aciduria type 2|transient neonatal MAD deficiency|transient neonatal glutaric acidemia type 2 Orphanet:329942|ICD10:E71.3|UMLS:CN204228|SCTID:723552005 owl:Class MONDO:0013598 biolink:NamedThing myostatin-related muscle hypertrophy Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant pattern of inheritance. tmpaxzxjjyw_mondo_relaxed.owl MSLHP|muscle hypertrophy OMIM:614160|GARD:0010238|Orphanet:275534|HGNC:4223|DOID:0111072|MESH:C536106|SCTID:699185005|ICD9:756.89 https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy owl:Class HGNC:4223 biolink:NamedThing MSTN tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr8p2 biolink:NamedThing 8p2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 29000000 0 hg38 owl:Class MONDO:0002513 biolink:NamedThing kidney benign neoplasm A non-metastasizing neoplasm that arises from the kidney. Representative examples include cystic nephroma, metanephric adenoma, oncocytoma, and urothelial papilloma of the renal pelvis. tmpaxzxjjyw_mondo_relaxed.owl renal neoplasm, benign|benign tumor of the kidney|benign renal tumor|benign tumor of kidney|benign kidney neoplasm|benign neoplasm of kidney|renal tumor, benign|kidney benign neoplasm|renal and ureteral tumor|benign renal neoplasm|benign kidney tumor|benign neoplasm of the kidney ICD9:223.0|SCTID:92165001|DOID:3116|EFO:1000111|NCIT:C4778 owl:Class MONDO:0016535 biolink:NamedThing hypohidrotic ectodermal dysplasia A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency). tmpaxzxjjyw_mondo_relaxed.owl anhidrotic ectodermal dysplasia 1|ectodermal dysplasia anhidrotic|CST syndrome|HED|hypohidrotic X-linked ectodermal dysplasia|EDA|ectodermal dysplasia, hypohidrotic|anhidrotic ectodermal dysplasia 3|anhidrotic ectodermal dysplasia|ectodermal dysplasia 1, Anhydrotic SCTID:7731005|DOID:14793|SCTID:239007005|HP:0007607|OMIM:129490|OMIM:614941|OMIM:300291|GARD:0000076|NCIT:C84562|OMIM:614940|ICD10:Q82.4|Orphanet:238468|OMIM:224900|UMLS:C0406702|OMIM:305100|OMIM:612132 DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic https://github.com/monarch-initiative/mondo/issues/4104 owl:Class GO:0007499 biolink:NamedThing ectoderm and mesoderm interaction A cell-cell signaling process occurring between the two gastrulation-generated layers of the ectoderm and the mesoderm. tmpaxzxjjyw_mondo_relaxed.owl ectoderm/mesoderm interaction owl:Class UBERON:0004647 biolink:NamedThing liver lobule tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10031 biolink:NamedThing RMRP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012586 biolink:NamedThing coronary artery disease, autosomal dominant 2 Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene. tmpaxzxjjyw_mondo_relaxed.owl ADCAD2|LRP6 coronary artery disease|coronary artery disease caused by mutation in LRP6|coronary artery disease, autosomal dominant type 2|coronary artery disease, autosomal dominant 2 MESH:C567045|OMIM:610947|UMLS:C1970440 owl:Class HGNC:1318 biolink:NamedThing C3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0027353 biolink:NamedThing autosomal recessive dyskeratosis congenita 4 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33. tmpaxzxjjyw_mondo_relaxed.owl DKCB4 DOID:0070021|OMIM:613989 OMIM combines with with DKCA2 owl:Class PO:0009085 biolink:NamedThing exocarp A portion of plant tissue (PO:0009007) that is the outer layer of a pericarp (PO:0009084). tmpaxzxjjyw_mondo_relaxed.owl ectocarp (exact)|exocarpo (Spanish, exact)|外果皮 (Japanese, exact)|flavedo (exact)|outer epidermis of pericarp (related)|fruit epidermis (exact)|epicarp (exact)|portion of exocarp tissue (exact)|pericarp epidermis (related) PO_GIT:149|PO_GIT:511 PO:0006217|PO:0006046 plant_anatomy owl:Class HP:0001297 biolink:NamedThing Stroke Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. tmpaxzxjjyw_mondo_relaxed.owl Cerebrovascular accidents|Cerebral vascular events|Cerebrovascular accident|Stroke UMLS:C0038454|SNOMEDCT_US:230690007|MSH:D020521 HP:0002452 human_phenotype owl:Class UBERON:0019190 biolink:NamedThing mucous gland of lung tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013331 biolink:NamedThing factor 5 and Factor VIII, combined deficiency of, 2 Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene. tmpaxzxjjyw_mondo_relaxed.owl combined deficiency of factor V and factor VIII caused by mutation in MCFD2|MCFD2 combined deficiency of factor V and factor VIII|factor 5 and Factor VIII, combined deficiency of, type 2|F5F8D2|factor 5 and Factor VIII, combined deficiency of, 2|factor V and factor VIII, combined deficiency of, 2 Orphanet:35909|OMIM:613625|UMLS:C3150889 owl:Class UBERON:0007118 biolink:NamedThing umbilicus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12399 biolink:NamedThing MYOT tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000317 biolink:NamedThing intestinal villus goblet cell A goblet cell that is part of the epithelium of intestinal villus. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of epithelium of intestinal villus FMA:263046 cell owl:Class UBERON:0004771 biolink:NamedThing posterior nasal aperture tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001567 biolink:NamedThing cheek tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004089 biolink:NamedThing midface tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:17089 biolink:NamedThing glycoprotein A compound in which a carbohydrate component is covalently bound to a protein component. tmpaxzxjjyw_mondo_relaxed.owl Glycoprotein|glicoproteinas|glycoproteine|glycoproteines|glycoproteins|Glykoprotein|Glykoproteine|glicoproteina owl:Class UBERON:0016410 biolink:NamedThing male breast tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016370 biolink:NamedThing Marchiafava-Bignami disease Marchiafava Bignami disease is defined by characteristic demyelination of the corpus callosum (erosion of the protective covering of nerve fibers joining the 2 hemispheres of the brain). The disease seems to most often affect severe and chronic alcoholics in their middle or late adult life. Early symptoms may include depression, paranoia, psychosis, or dementia. Seizures are common, and hemiparesis, aphasia, abnormal movements, and ataxia may sometimesprogress to coma and/or death. The cause of Marchiafava Bignami disease, including the potential role of nutritional deficiency, remains unknown. Improvement and recovery of some individuals has been reported. Treatment focuses on nutritional support and rehabilitation from alcoholism. tmpaxzxjjyw_mondo_relaxed.owl Marchiafava Bignami disease|acute Marchiafava-Bignami disease|MBD|metabolic bone disease|metabolic bone disorder|chronic Marchiafava-Bignami syndrome SCTID:386766007|GARD:0006971|MedDRA:10026828|ICD9:341.8|NCIT:C97045|Orphanet:221074|UMLS:C0238265|MESH:D054319|ICD10:G37.1|EFO:1001809 https://rarediseases.info.nih.gov/diseases/6971/marchiafava-bignami-disease owl:Class MONDO:0010190 biolink:NamedThing pontocerebellar hypoplasia type 2A tmpaxzxjjyw_mondo_relaxed.owl Pch2|Volendam neurodegenerative disease|pontocerebellar hypoplasia type 2 caused by mutation in TSEN54|microcephaly pontocerebellar hypoplasia dyskinesia|TSEN54 pontocerebellar hypoplasia type 2|pontocerebellar hypoplasia with progressive cerebral atrophy|pontocerebellar hypoplasia, type 2A|PCH2A DOID:0060267|GARD:0003631|MESH:C564738|OMIM:277470|Orphanet:2524 https://rarediseases.info.nih.gov/diseases/3631/microcephaly-pontocerebellar-hypoplasia-dyskinesia owl:Class MONDO:0010614 biolink:NamedThing X-linked congenital generalized hypertrichosis X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on the entire body in males, and mild and asymmetric hair overgrowth in females. It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness. tmpaxzxjjyw_mondo_relaxed.owl hCG|HTC2|Macias-Flores Garcia-Cruz Rivera syndrome|hypertrichosis, congenital generalized|Cgh|congenital generalized hypertrichosis, Macias-Flores type|chromosome Xq27.1 Interchromosomal insertion syndrome|chromosome Xq27.1 interchromosomal insertion syndrome|hypertrichosis congenital generalized X-linked|Macias Flores-Garcia Cruz-Rivera syndrome Orphanet:79495|MESH:C538388|Orphanet:2222|GARD:0002863|ICD10:Q84.2|OMIM:307150 https://rarediseases.info.nih.gov/diseases/2863/x-linked-congenital-generalized-hypertrichosis owl:Class UBERON:0002057 biolink:NamedThing phrenic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010231 biolink:NamedThing anatomical line between outer ears tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000328 biolink:NamedThing hyperphosphatemia Abnormally high level of phosphate in the blood. tmpaxzxjjyw_mondo_relaxed.owl hyperphosphatemia|hyperphosphatemia (disease) hyperphosphatemia (disease) UMLS:C0085681|SCTID:20165001|MESH:D054559|DOID:0050459|HP:0002905|NCIT:C113750 owl:Class UBERON:0007641 biolink:NamedThing trigeminal nuclear complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11828 biolink:NamedThing TJP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001497 biolink:NamedThing muscle of pelvic girdle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004470 biolink:NamedThing musculature of pelvic girdle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002789 biolink:NamedThing Tachypnea Very rapid breathing. tmpaxzxjjyw_mondo_relaxed.owl Polypnea|Increased respiratory rate or depth of breathing MSH:D059246|UMLS:C0231835|SNOMEDCT_US:271823003 In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute. HP:0004346|HP:0002874 human_phenotype owl:Class UBERON:0009708 biolink:NamedThing dorsal pancreas tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010375 biolink:NamedThing pancreas dorsal primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002140 biolink:NamedThing acinar cell of sebaceous gland A sebum secreting cell of the skin that secretes sebum into the hair follicles. tmpaxzxjjyw_mondo_relaxed.owl sebocyte BTO:0004613|FMA:70953 tmeehan 2010-08-24T09:27:52Z CL:0002587 cell owl:Class UBERON:0003487 biolink:NamedThing skin sebaceous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004146 biolink:NamedThing His-Purkinje system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016703 biolink:NamedThing anaplastic oligoastrocytoma An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl WHO grade III mixed glioma|anaplastic oligoastrocytoma|anaplastic mixed glioma|aMOA|AOAST ICD10:C71.9|Orphanet:251663|ONCOTREE:AOAST|NCIT:C6959|EFO:0002500|GARD:0010637|UMLS:C0431108 https://rarediseases.info.nih.gov/diseases/10637/anaplastic-oligoastrocytoma owl:Class MONDO:0007900 biolink:NamedThing nonsyndromic congenital nail disorder 3 Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene. tmpaxzxjjyw_mondo_relaxed.owl Gorlin Bushkell Jensen syndrome|leukonychia totalis and/or partialis|leukonychia Striatus|nail disorder, nonsyndromic congenital, 3|porcelain nails|inherited isolated nail anomaly caused by mutation in PLCD1|nonsyndromic congenital nail disorder type 3|PLCD1 inherited isolated nail anomaly|leukonychia punctata|nail disorder, nonsyndromic congenital, type 3|NDNC3|leukonychia totalis multiple sebaceous cysts renal calculi MESH:C537289|ICD9:703.8|DOID:0080081|GARD:0002555|SCTID:74102009|OMIM:151600|Orphanet:2387 https://rarediseases.info.nih.gov/diseases/2555/gorlin-bushkell-jensen-syndrome owl:Class HGNC:9060 biolink:NamedThing PLCD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001941 biolink:NamedThing blindness (disorder) The lack of vision. It is caused by neurological or physiological factors. tmpaxzxjjyw_mondo_relaxed.owl blindness|vision loss|visual impairment|vision impairment MESH:D001766|NCIT:C97109|SCTID:105597003|ICD10:H54|ICD9:369|DOID:1432 owl:Class CL:0000347 biolink:NamedThing scleral cell A cell of the sclera of the eye. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0008104 biolink:NamedThing Noonan syndrome 1 Noonan syndrome caused by mutations in the PTPN11 gene. tmpaxzxjjyw_mondo_relaxed.owl Noonan syndrome 1|NS1|Noonan syndrome type 1|Turner phenotype with normal karyotype|Noonan syndrome|female pseudo-Turner syndrome|Male Turner syndrome|pterygium colli syndrome UMLS:C4551602|GARD:0007223|DOID:0060578|NCIT:C75459|UMLS:C0028326|Orphanet:648|OMIM:163950 https://github.com/monarch-initiative/mondo/issues/2554 owl:Class CHEBI:35640 biolink:NamedThing adrenergic uptake inhibitor Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin. tmpaxzxjjyw_mondo_relaxed.owl ARI|adrenergic uptake inhibitors|adrenergic reuptake inhibitor|adrenergic reuptake inhibitors|norepinephrine reuptake inhibitors|norepinephrine reuptake inhibitor|NRI|NERI owl:Class MONDO:0060763 biolink:NamedThing intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene. tmpaxzxjjyw_mondo_relaxed.owl BCL11B-related BAFopathy|INTELLECTUAL developmental disorder with speech delay, DYSMORPHIC facies, and T-cell abnormalities|IDDSFTA OMIM:618092 owl:Class OBO:CHR_9606-chr16p13.2 biolink:NamedThing 16p13.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 10400000 7800000 hg38 owl:Class CHEBI:30102 biolink:NamedThing diazynium tmpaxzxjjyw_mondo_relaxed.owl diazynium|HN2+|N#NH(+) owl:Class MONDO:0003843 biolink:NamedThing cerebral hemisphere lipoma A rare benign adipose tissue neoplasm within the cerebral hemisphere often associated with partial or complete agenesis of the corpus callosum. tmpaxzxjjyw_mondo_relaxed.owl cerebral hemisphere lipoma|lipoma of the cerebral hemisphere|lipoma of cerebral hemisphere DOID:6291|UMLS:C1332907|NCIT:C6220 owl:Class MONDO:0010438 biolink:NamedThing paroxysmal nocturnal hemoglobinuria 1 Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene. tmpaxzxjjyw_mondo_relaxed.owl pIgA paroxysmal nocturnal hemoglobinuria|paroxysmal nocturnal hemoglobinuria type 1|paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA|PIGA paroxysmal nocturnal hemoglobinuria|PNH1|paroxysmal nocturnal hemoglobinuria caused by mutation in pIgA|paroxysmal nocturnal hemoglobinuria 1 UMLS:C3806670|OMIM:300818|Orphanet:447 owl:Class UBERON:0001799 biolink:NamedThing vitreous chamber of eyeball tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007605 biolink:NamedThing sensory perception of sound The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. tmpaxzxjjyw_mondo_relaxed.owl hearing|perception of sound owl:Class UBERON:0004917 biolink:NamedThing urethral sphincter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011067 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 12 An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 12|autosomal recessive deafness 12|autosomal recessive nonsyndromic deafness 12|deafness, autosomal recessive type 12|deafness, autosomal recessive 12|DFNB12 OMIM:601386|MESH:C563327|DOID:0110467|UMLS:C1832394|ICD10:H90.3 owl:Class HGNC:13733 biolink:NamedThing CDH23 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013172 biolink:NamedThing polymicrogyria with optic nerve hypoplasia A rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. tmpaxzxjjyw_mondo_relaxed.owl cortical dysplasia, complex, with other brain malformations 8|CDCBM8|cortical dysplasia, Complex, with Other brain malformations 8|polymicrogyria with optic nerve hypoplasia UMLS:C2750798|Orphanet:250972|MESH:C567715|OMIM:613180 owl:Class HGNC:12410 biolink:NamedThing TUBA8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011450 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 1 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary breast ovarian cancer syndrome caused by mutation in BRCA1|breast-ovarian cancer, familial, susceptibility to, type 1|breast-ovarian cancer, familial, susceptibility to, 1|BRCA1 hereditary breast ovarian cancer syndrome|breast cancer, familial, susceptibility to, 1|susceptibility to familial breast-ovarian cancer 1|ovarian cancer, familial, susceptibility to, 1|BROVCA1 Orphanet:227535|Orphanet:145|OMIM:604370 owl:Class HGNC:1100 biolink:NamedThing BRCA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:30348 biolink:NamedThing POLR3B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011186 biolink:NamedThing Usher syndrome type 1F A form of Usher syndrome type IF that can be caused by homozygous or compound heterozygous mutation in the protocadherin-15 gene (PCDH15) on chromosome 10q. It is inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl USHER syndrome, type IF|Usher syndrome, type 1F|USH1F|Usher syndrome type IF|Usher syndrome type 1F OMIM:602083|ICD10:H35.5|Orphanet:231169|GARD:0010043|Orphanet:886|DOID:0110832|UMLS:C1865885 https://rarediseases.info.nih.gov/diseases/10043/usher-syndrome-type-1f owl:Class N10d7e3be261043e19c54c6eafa23a7e3 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0030316 biolink:NamedThing osteoclast differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. tmpaxzxjjyw_mondo_relaxed.owl osteoclast cell differentiation owl:Class UBERON:0005732 biolink:NamedThing paired limb/fin field tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005831 biolink:NamedThing lymph node tuberculosis Tuberculosis of the lymph node. tmpaxzxjjyw_mondo_relaxed.owl lymph node tuberculosis|king's evil|tuberculous adenitis|tuberculous lymphadenopathy|scrofula NCIT:C26896|EFO:0007350|SCTID:10893003|MESH:D014388|DOID:4889|ICD10:A18.2 owl:Class OBO:CHR_9606-chr8q21.11 biolink:NamedThing 8q21.11 (Human) tmpaxzxjjyw_mondo_relaxed.owl 74600000 72000000 hg38 owl:Class OBO:CHR_9606-chr8q21.1 biolink:NamedThing 8q21.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 83500000 72000000 hg38 owl:Class HGNC:2726 biolink:NamedThing DDIT3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033853 biolink:NamedThing congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:521432 owl:Class HGNC:1356 biolink:NamedThing ERLIN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001186 biolink:NamedThing left renal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004538 biolink:NamedThing left kidney tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011972 biolink:NamedThing ovarian hyperstimulation syndrome A complication of ovulation induction in infertility treatment. It is graded by the severity of symptoms which include ovary enlargement, multiple ovarian follicles; ovarian cysts; ascites; and generalized edema. The full-blown syndrome may lead to renal failure, respiratory distress, and even death. Increased capillary permeability is caused by the vasoactive substances, such as vascular endothelial growth factors, secreted by the overly-stimulated ovaries. tmpaxzxjjyw_mondo_relaxed.owl ovarian hyperstimulation syndrome, familial gestational spontaneous|OHSS|ovarian hyperstimulation syndrome|secondary Meig's syndrome Orphanet:64739|OMIM:608115|MedDRA:10033266|UMLS:C0085083|DOID:5425|MESH:D016471|SCTID:129635004|ICD9:256.1|ICD10:N98.1 owl:Class HGNC:3969 biolink:NamedThing FSHR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100320 biolink:NamedThing post-COVID-19 disorder A SARS-CoV-2-related disease that is caused by infection by SARS-CoV-2, and manifests after the original primary infection. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0001878 biolink:NamedThing acquired hypertrophic pyloric stenosis An instance of hypertrophic pyloric stenosis that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired hypertrophic pyloric stenosis|acquired gastric outlet stenosis|adult hypertrophic pyloric stenosis SCTID:266438007|DOID:14099|ICD9:537.0|UMLS:C2937286 owl:Class MONDO:0016149 biolink:NamedThing qualitative or quantitative defects of merosin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:207094 owl:Class HGNC:6482 biolink:NamedThing LAMA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001614 biolink:NamedThing ice-bearing permafrost Permafrost which contains inclusions of water-based ice. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009705 biolink:NamedThing carnitine palmitoyl transferase 1A deficiency Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure. tmpaxzxjjyw_mondo_relaxed.owl carnitine palmitoyl transferase IA deficiency|Carnitine palmitoyl transferase IA deficiency|CPT1A disorder of carnitine cycle and carnitine transport|hepatic CPT deficiency type I|hepatic carnitine palmitoyl transferase I deficiency|CPT 1 deficiency|CPT I deficiency|L-CPT1 deficiency|L-CPT 1 deficiency|disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A|hepatic carnitine palmitoyl transferase 1 deficiency|CPT1A deficiency|Carnitine Palmitoyltransferase 1A deficiency|CPT deficiency, hepatic, type 1|carnitine palmitoyl transferase 1A deficiency|Carnitine palmitoyltransferase 1A deficiency|L-CPTI deficiency|Carnitine palmitoyl transferase 1 deficiency|Carnitine Palmitoyltransferase 1 deficiency|carnitine palmitoyltransferase I deficiency|hepatic carnitine palmitoyltransferase 1 deficiency|hepatic CPT1 UMLS:C1829703|OMIM:255120|DOID:0090129|SCTID:238001003|Orphanet:156|ICD10:E71.3|NCIT:C98871|ICD9:277.85|HGNC:2328|GARD:0001120|MESH:C535588 Editor note: consider adding sibling for CPT-1B https://rarediseases.info.nih.gov/diseases/1120/carnitine-palmitoyl-transferase-1-deficiency owl:Class UBERON:0001257 biolink:NamedThing trigone of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004013 biolink:NamedThing adult vagina botryoid embryonal rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. It occurs in female adults. tmpaxzxjjyw_mondo_relaxed.owl adult botryoid-type embryonal rhabdomyosarcoma of the vagina|botryoid-type embryonal rhabdomyosarcoma of the vagina of adults|adult sarcoma Botryoides of the vagina|adult vagina botryoid rhabdomyosarcoma UMLS:C1515893|NCIT:C40267|DOID:6848 Editor note: check embryonal rhabdomyosarcoma vs rhabdomyosarcoma owl:Class UBERON:0001742 biolink:NamedThing epiglottic cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009042 biolink:NamedThing prostatic venous plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3054 biolink:NamedThing DSPP tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001326 biolink:NamedThing levator ani muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012013 biolink:NamedThing Weill-Marchesani syndrome 2, dominant A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome. tmpaxzxjjyw_mondo_relaxed.owl spherophakia-brachymorphia syndrome|Weill-Marchesani syndrome type 2|glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome|Weill-Marchesani syndrome 2|GEMSS syndrome|glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome|WMS2|Weill-Marchesani syndrome, autosomal dominant|mesodermal Dysmorphodystrophy, congenital|GEMSS Orphanet:3449|Orphanet:2084|ICD10:Q87.1|GARD:0002452|OMIM:608328|SCTID:722450007|UMLS:C0265313 owl:Class HGNC:30262 biolink:NamedThing PYCR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2040 biolink:NamedThing CLDN19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013178 biolink:NamedThing congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported. tmpaxzxjjyw_mondo_relaxed.owl congenital muscular dystrophy caused by mutation in LMNA|muscular dystrophy, congenital, LMNA-related|LMNA-related congenital muscular dystrophy|LMNA congenital muscular dystrophy|congenital muscular dystrophy LMNA-related|L-CMD|MDCL|muscular dystrophy Congenital, LMNA-related NCIT:C148369|DOID:0110640|GARD:0012585|OMIM:613205|UMLS:C2750785|Orphanet:157973|ICD10:G71.2|MESH:C567708 https://rarediseases.info.nih.gov/diseases/12585/congenital-muscular-dystrophy-due-to-lmna-mutation owl:Class MONDO:0013975 biolink:NamedThing ectodermal dysplasia 7, hair/nail type Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT74 gene. tmpaxzxjjyw_mondo_relaxed.owl ECTD7|ectodermal dysplasia 7, hair/nail type|KRT74 pure hair and nail ectodermal dysplasia|pure hair and nail ectodermal dysplasia caused by mutation in KRT74 Orphanet:69084|OMIM:614929|DOID:0111660|UMLS:C3554117 owl:Class NCBITaxon:6269 biolink:NamedThing Anisakis simplex tmpaxzxjjyw_mondo_relaxed.owl herring worm GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003052 biolink:NamedThing midbrain-hindbrain boundary tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1975 biolink:NamedThing VSX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr19q13.1 biolink:NamedThing 19q13.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 38200000 31900000 hg38 owl:Class MONDO:0003376 biolink:NamedThing mediastinum leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl mediastinal leiomyosarcoma|leiomyosarcoma of mediastinum|mediastinum leiomyosarcoma|leiomyosarcoma of the mediastinum DOID:5292|UMLS:C1334660|NCIT:C6619 owl:Class CL:1000484 biolink:NamedThing Purkinje myocyte of atrioventricular bundle A Purkinje myocyte that is part of the atrioventricular bundle. tmpaxzxjjyw_mondo_relaxed.owl FMA:83393 cell owl:Class UBERON:0002353 biolink:NamedThing bundle of His tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001083 biolink:NamedThing myocardium of ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001764 biolink:NamedThing maxillary sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:37323 biolink:NamedThing 7,8-dimethylisoalloxazine A 7,8-dimethylbenzo[g]pteridine-2,4-dione that is isoalloxazine substituted by methyl groups at positions 7 and 8. tmpaxzxjjyw_mondo_relaxed.owl 7,8-dimethylbenzo[g]pteridine-2,4(3H,10H)-dione|dimethylisoalloxazine owl:Class GO:0021915 biolink:NamedThing neural tube development The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043009 biolink:NamedThing chordate embryonic development The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001763 biolink:NamedThing odontogenic papilla tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008281 biolink:NamedThing tooth bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16873 biolink:NamedThing FIG4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000301 biolink:NamedThing amniotic cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008484 biolink:NamedThing stapes ankylosis with broad thumbs and toes Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. tmpaxzxjjyw_mondo_relaxed.owl stapes ankylosis with BROAD thumb and toes|ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly|stapes ankylosis syndrome without symphalangism|Teunissen-Cremers syndrome ICD10:Q87.8|UMLS:C1866656|Orphanet:140917|SCTID:719305006|OMIM:184460 owl:Class HGNC:7866 biolink:NamedThing NOG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013887 biolink:NamedThing heterotaxy, visceral, 6, autosomal tmpaxzxjjyw_mondo_relaxed.owl HTX6|heterotaxy, visceral, 6, autosomal Orphanet:450|UMLS:C3553676|OMIM:614779 owl:Class HGNC:26530 biolink:NamedThing CFAP53 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012971 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 7 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene. tmpaxzxjjyw_mondo_relaxed.owl nephropathy, diabetic, susceptibility to|MVCD7|proliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, 7|microvascular complications of diabetes, susceptibility to, type 7|nonproliferative retinopathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility caused by mutation in HFE|HFE microvascular complications of diabetes, susceptibility OMIM:612635 owl:Class HGNC:4886 biolink:NamedThing HFE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007204 biolink:NamedThing Cole-Carpenter syndrome 1 Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene. tmpaxzxjjyw_mondo_relaxed.owl COLE-CARPENTER syndrome 1|P4HB Cole-Carpenter syndrome|Cole-Carpenter syndrome type 1|Cole-Carpenter syndrome 1|Cole-Carpenter syndrome caused by mutation in P4HB|CLCRP1|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive Facial features UMLS:C1862178|UMLS:C4317154|Orphanet:2050|OMIM:112240|UMLS:CN029402 owl:Class HGNC:8548 biolink:NamedThing P4HB tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011375 biolink:NamedThing skin of prepuce of clitoris tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005298 biolink:NamedThing skin of clitoris tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005790 biolink:NamedThing hepatitis A virus infection Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water. tmpaxzxjjyw_mondo_relaxed.owl viral hepatitis A|viral hepatitis, type A|Hepatitis A infection|hepatitis type A|Hepatitis A UMLS:C0019159|EFO:0007305|DOID:12549|NCIT:C3096|SCTID:40468003|MESH:D006506 owl:Class CL:0000786 biolink:NamedThing plasma cell A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin. tmpaxzxjjyw_mondo_relaxed.owl plasma B cell|effector B-cell|plasmocyte|plasmacyte|plasma B-cell|effector B cell BTO:0000392|FMA:70574 Plasma cells develop in the spleen and migrate to the bone marrow. Plasma cells are also reportedly CD5-negative, CD10-negative, CD19-positive, CD20-negative, CD21-negative, CD22-negative, CD23-negative, CD24-negative, CD25-negative, CD27-positive, CD34-negative, CD38-positive, CD40-positive, CD43-positive, CD45-positive, CD48-positive, CD53-low, CD80-negative, CD81-positive, CD86-positive, CD95-positive, CD196-negative, CD229-positive, CD270-positive, CD352-positive, CD361-positive, and IgD-negative. Transcription factors: BLIMP1-positive, IRF4-positive, PAX5-negative, SpiB-negative, Ets1-negative, and XBP1-positive. cell owl:Class GO:0007631 biolink:NamedThing feeding behavior Behavior associated with the intake of food. tmpaxzxjjyw_mondo_relaxed.owl feeding on blood of other organism|taking of blood meal|behavioural response to food|feeding from xylem of other organism|hematophagy|feeding from vascular tissue of another organism|injection of substance into other organism during feeding on blood of other organism|feeding on or from other organism|feeding on plant sap|feeding from tissue of other organism|feeding from plant phloem|feeding behaviour|feeding from phloem of other organism|behavioral response to food|eating owl:Class UBERON:0009536 biolink:NamedThing vascular element of left lung tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013262 biolink:NamedThing dilated cardiomyopathy 1S Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene. tmpaxzxjjyw_mondo_relaxed.owl familial isolated dilated cardiomyopathy caused by mutation in MYH7|dilated cardiomyopathy-1S|MYH7 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1S|dilated cardiomyopathy type 1S|left ventricular noncompaction 5|cardiomyopathy, dilated, type 1S|CMD1S GARD:0012832|Orphanet:54260|DOID:0110454|OMIM:613426|MESH:C563538|ICD10:I42.0 https://rarediseases.info.nih.gov/diseases/12832/dilated-cardiomyopathy-1s owl:Class MONDO:0012510 biolink:NamedThing combined oxidative phosphorylation defect type 2 Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency 2|combined oxidative phosphorylation deficiency type 2|combined oxidative phosphorylation deficiency caused by mutation in MRPS16|MRPS16 combined oxidative phosphorylation deficiency|COXPD2|corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis DOID:0111483|OMIM:610498|ICD10:E88.8|Orphanet:254920|UMLS:C1864843|MESH:C566468|SCTID:764943000 owl:Class MONDO:0009876 biolink:NamedThing isolated growth hormone deficiency type IA An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has material basis in null mutations in the GH1 gene on chromosome 17q23.3. tmpaxzxjjyw_mondo_relaxed.owl Illig-type growth hormone deficiency|pituitary dwarfism I|sexual ateleiotic dwarfism|isolated Growth hormone deficiency, type 1A|congenital isolated growth hormone deficiency|pituitary dwarfism 1|isolated growth hormone deficiency, type IA|congenital IGHD type IA|isolated growth hormone deficiency type 1A|congenital IGHD|autosomal recessive isolated growth hormone deficiency|non-acquired isolated growth hormone deficiency|IGHD IA|isolated growth hormone deficiency type IA|ILLIG type growth hormone deficiency|congenital isolated GH deficiency type IA|Growth hormone deficiency, isolated, autosomal recessive|congenital isolated growth hormone deficiency type IA|Growth hormone deficiency, isolated autosomal recessive|IGHD1A|congenital isolated GH deficiency|Illig-type Growth hormone deficiency|IGHD 1A|primordial dwarfism MESH:C537404|SCTID:237837007|Orphanet:631|ICD10:E23.0|OMIM:262400|GARD:0007399|Orphanet:231662|ICD9:259.4|DOID:0060873 https://rarediseases.info.nih.gov/diseases/7399/isolated-growth-hormone-deficiency-type-1a owl:Class HGNC:4261 biolink:NamedThing GH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006859 biolink:NamedThing extracellular carbohydrate transport The directed extracellular movement of carbohydrates. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035431 biolink:NamedThing mediastinal pleura tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000310 biolink:NamedThing adipocyte of epicardial fat of right ventricle A fat cell that is part of the epicardial fat of right ventricle. tmpaxzxjjyw_mondo_relaxed.owl epicardial adipocyte of right ventricle|epicardial fat cell of right ventricle FMA:261297 cell owl:Class UBERON:0010843 biolink:NamedThing clavicle cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011350 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 17 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 17|nonsyndromic hereditary deafness DFNA17|cochleosaccular degeneration|autosomal dominant nonsyndromic deafness 17|late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration|deafness, autosomal dominant 17|DFNA17|autosomal dominant deafness 17|autosomal dominant nonsyndromic deafness caused by mutation in MYH9|MYH9 autosomal dominant nonsyndromic deafness|deafness, autosomal dominant type 17|deafness, autosomal dominant nonsyndromic sensorineural 17 GARD:0009726|ICD10:H90.3|DOID:0110548|OMIM:603622 owl:Class MONDO:0009258 biolink:NamedThing classic galactosemia Classic galactosemia is a life-threatening metabolic disease with onset in the neonatal period. Infants usually develop feeding difficulties, lethargy, and severe liver disease. tmpaxzxjjyw_mondo_relaxed.owl galactosemia, classic|galactose-1-phosphate uridyltransferase deficiency|Galt deficiency|galactosemia|GALT deficiency|galactosemia, Duarte variant|galactosemia type 1|classic galactosemia|classical galactosemia, homozygous duarte-type|galactose-1-phosphate uridylyltransferase deficiency ICD10:E74.2|OMIM:230400|Orphanet:352|Orphanet:79239|SCTID:10899004|DOID:0111459 owl:Class HGNC:4135 biolink:NamedThing GALT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014514 biolink:NamedThing aortic aneurysm, familial thoracic 9 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene. tmpaxzxjjyw_mondo_relaxed.owl AAT9|familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5|aortic aneurysm, familial thoracic 9|aortic aneurysm, familial thoracic type 9|MFAP5 familial thoracic aortic aneurysm and aortic dissection|aortic aneurysm, thoracic, with or without aortic dissection UMLS:C4015368|Orphanet:91387|OMIM:616166 owl:Class GO:0045672 biolink:NamedThing positive regulation of osteoclast differentiation Any process that activates or increases the frequency, rate or extent of osteoclast differentiation. tmpaxzxjjyw_mondo_relaxed.owl upregulation of osteoclast differentiation|stimulation of osteoclast differentiation|up regulation of osteoclast differentiation|activation of osteoclast differentiation|up-regulation of osteoclast differentiation owl:Class GO:0015171 biolink:NamedThing amino acid transmembrane transporter activity Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. tmpaxzxjjyw_mondo_relaxed.owl general amino acid permease activity|amino acid transporter activity|amino acid/choline transmembrane transporter activity|hydroxy/aromatic amino acid permease activity|amino acid permease activity owl:Class GO:0003333 biolink:NamedThing amino acid transmembrane transport The process in which an amino acid is transported across a membrane. tmpaxzxjjyw_mondo_relaxed.owl amino acid membrane transport owl:Class MONDO:0004088 biolink:NamedThing cervical basaloid carcinoma An aggressive variant of cervical squamous cell carcinoma characterized by the presence of nests of malignant basaloid squamous cells with scant amount of cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl cervical basaloid squamous cell carcinoma|cervical basaloid carcinoma NCIT:C40189|DOID:7046|UMLS:C1511063 owl:Class CHEBI:17578 biolink:NamedThing toluene The simplest member of the class toluenes consisting of a benzene core which bears a single methyl substituent. tmpaxzxjjyw_mondo_relaxed.owl Toluol|methylbenzene|TOLUENE|toluene|Toluene|phenylmethane|Toluen owl:Class MONDO:0013469 biolink:NamedThing retinitis pigmentosa 38 Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene. tmpaxzxjjyw_mondo_relaxed.owl RP38|MERTK retinitis pigmentosa|retinitis pigmentosa caused by mutation in MERTK|retinitis pigmentosa 38|Rod-cone dystrophy, childhood-onset|retinitis pigmentosa type 38 ICD10:H35.5|DOID:0110367|UMLS:C3151228|OMIM:613862 owl:Class UBERON:0005239 biolink:NamedThing basal plate metencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11050 biolink:NamedThing SLC6A4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016331 biolink:NamedThing infantile systemic hyalinosis Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands. tmpaxzxjjyw_mondo_relaxed.owl OMIM:228600|ICD10:E78.8|SCTID:238867003|Orphanet:2176 owl:Class CL:0000011 biolink:NamedThing migratory trunk neural crest cell Cell that is part of the migratory trunk neural crest population. Migratory trunk neural crest cells develop from premigratory trunk neural crest cells and have undergone epithelial to mesenchymal transition and delamination. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0010478 biolink:NamedThing SLC35A2-CDG SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum). tmpaxzxjjyw_mondo_relaxed.owl congenital disorder of glycosylation type IIm|EIEE22|CDG2M|CDG-IIm|epileptic encephalopathy, early infantile, 22; EIEE22|epileptic encephalopathy, early infantile, 22|congenital disorder of glycosylation type 2m|congenital disorder of glycosylation, type IIm|CDG IIm|SLC35A2-CDG|CDG syndrome type IIm ICD10:E77.8|UMLS:C3806688|Orphanet:356961|GARD:0012403|DOID:0070265|OMIM:300896 https://rarediseases.info.nih.gov/diseases/12403/slc35a2-cdg owl:Class NCBITaxon:730 biolink:NamedThing [Haemophilus] ducreyi tmpaxzxjjyw_mondo_relaxed.owl Coccobacillus ducreyi|Haemophilus ducreyi|Bacillus ulceris cancrosi GC_ID:11 ncbi_taxonomy owl:Class MONDO:0001777 biolink:NamedThing acute gonococcal cystitis Acute form of gonococcal cystitis. tmpaxzxjjyw_mondo_relaxed.owl acute gonorrhea of bladder|gonococcal cystitis, acute|gonococcal cystitis (acute) UMLS:C0153191|SCTID:24868007|DOID:13690|ICD9:098.11 owl:Class MONDO:0011113 biolink:NamedThing Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth neuropathy, type 4C|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C|Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2|Charcot-Marie-Tooth disease, type 4C|CMT4C|SH3TC2 Charcot-Marie-Tooth disease type 4|CMT 4C|Charcot Marie Tooth disease type 4C|Charcot-Marie-Tooth neuropathy type 4C NCIT:C129864|SCTID:715797002|GARD:0009201|UMLS:C1866636|DOID:0110183|OMIM:601596|ICD10:G60.0|MESH:C535423|Orphanet:99949 https://rarediseases.info.nih.gov/diseases/9201/charcot-marie-tooth-disease-type-4c owl:Class HGNC:29427 biolink:NamedThing SH3TC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010083 biolink:NamedThing succinic semialdehyde dehydrogenase deficiency Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare neurometabolic disorder of gamma-aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe) with the most frequent symptoms being cognitive impairment with prominent deficit in expressive language, hypotonia, ataxia, epilepsy, and behavioral dysregulation. tmpaxzxjjyw_mondo_relaxed.owl gamma-hydroxybutyric aciduria|Ssadh deficiency|gamma-hydroxybutyricaciduria|4-hydroxybutyric aciduria|SSADH deficiency|SSADHD|succinic semialdehyde dehydrogenase deficiency|GABA metabolic defect|SSADH Orphanet:22|DOID:0060175|GARD:0007695|UMLS:C0268631|OMIM:271980|MESH:C535803|ICD10:E72.8|SCTID:49748000 https://rarediseases.info.nih.gov/diseases/7695/succinic-semialdehyde-dehydrogenase-deficiency owl:Class MONDO:0017330 biolink:NamedThing malignancy diagnosed during pregnancy tmpaxzxjjyw_mondo_relaxed.owl cancer diagnosed during pregnancy UMLS:CN227116|Orphanet:289385 owl:Class UBERON:0004175 biolink:NamedThing internal genitalia tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001709 biolink:NamedThing upper jaw region tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21606 biolink:NamedThing MPC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:15022 biolink:NamedThing electron donor A molecular entity that can transfer an electron to another molecular entity. tmpaxzxjjyw_mondo_relaxed.owl electron donor|Elektronendonator|donneur d'electron owl:Class UBERON:0035651 biolink:NamedThing glans tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001829 biolink:NamedThing major salivary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043653 biolink:NamedThing herpes labialis A lesion caused by type 1 or type 2 herpes simplex virus, typically involving the oralfacial region. tmpaxzxjjyw_mondo_relaxed.owl cold sores|fever blister|herpes labialis|cold sore|herpes simplex labialis|fever blisters|Sore, cold|Sores, cold|blister, fever|labial Herpes simplex|Herpes simplex, labial|blisters, fever SCTID:1475003|NCIT:C34695|EFO:1001347|UMLS:C0019345|MESH:D006560 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class OBO:CHR_9606-chr8q12 biolink:NamedThing 8q12 (Human) tmpaxzxjjyw_mondo_relaxed.owl 65100000 54600000 hg38 owl:Class OBO:CHR_9606-chr8q1 biolink:NamedThing 8q1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 72000000 45200000 hg38 owl:Class MONDO:0012847 biolink:NamedThing autosomal recessive congenital ichthyosis 6 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the NIPAL4 gene. tmpaxzxjjyw_mondo_relaxed.owl ichthyosis, congenital, autosomal recessive, Nipal4-related|ARCI6|autosomal recessive congenital ichthyosis type 6|ichthyosis, congenital, autosomal recessive type 6|ichthyosis, congenital, autosomal recessive 6 UMLS:C2677065|Orphanet:79394|DOID:0060715|OMIM:612281|Orphanet:313|ICD10:Q80.2 owl:Class MONDO:0009837 biolink:NamedThing choroid plexus papilloma Papilloma of the choroid plexus is a rare benign type of choroid plexus tumor, accounting for 1% of all brain tumors, often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure. tmpaxzxjjyw_mondo_relaxed.owl pediatric papilloma of choroid plexus|childhood choroid plexus papilloma|choroid plexus papilloma|papilloma of choroid plexus|childhood papilloma of choroid plexus|choroid plexus papilloma, no ICD-O subtype|CPP|papilloma of the choroid plexus|choroid plexus papilloma NOS (morphologic abnormality)|papilloma, choroid plexus, benign|choroid plexus carcinoma ICD10:D33.0|ONCOTREE:CPP|GARD:0004214|OMIM:260500|NCIT:C3698|ICDO:9390/0|MedDRA:10008777|SCTID:425868004|Orphanet:251899|DOID:2626|Orphanet:2807|MESH:D020288|EFO:1000177|UMLS:C0205770 owl:Class HGNC:25358 biolink:NamedThing RNF170 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002015 biolink:NamedThing Dysphagia Difficulty in swallowing. tmpaxzxjjyw_mondo_relaxed.owl Deglutition disorder|Difficulty swallowing|Poor swallowing|Swallowing difficulty|Swallowing difficulties SNOMEDCT_US:40739000|UMLS:C0011168|MSH:D003680|MEDDRA:10013950|SNOMEDCT_US:288939007 HP:0002569 human_phenotype owl:Class MONDO:0044907 biolink:NamedThing metastatic squamous cell carcinoma A squamous cell carcinoma which has spread from its original site of growth to another anatomic site. tmpaxzxjjyw_mondo_relaxed.owl Metastatic squamous cell carcinoma NCIT:C4104|SCTID:403906006|UMLS:C0334246 owl:Class PATO:0002098 biolink:NamedThing neoplastic, metastatic A disposition inhering in a tumour by virtue of the bearer's disposition to spread and invade distant tissues. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008280 biolink:NamedThing Peutz-Jeghers syndrome Peutz-Jeghers syndrome (PJS) is an inherited gastrointestinal disorder characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. PJS carries a considerably increased risk of GI and extra-GI malignancies. tmpaxzxjjyw_mondo_relaxed.owl polyps-and-Spots syndrome|Peutz-Jeghers syndrome|lentiginosis, perioral|Peutz-Jeghers small bowel hamartoma|PJS|colonic hamartomatous polyp|periorificial lentiginosis syndrome|Peutz Jeghers polyposis|Peutz Jeghers colon polyp|Peutz's syndrome|Jeghers-Peutz syndrome|polyps and spots syndrome|gastric Peutz-Jeghers polyp|polyposis, hamartomatous intestinal|hamartomatous intestinal polyposis|Peutz-Jeghers polyp of small intestine ICD9:759.6|OMIM:175200|Orphanet:2869|MedDRA:10034764|UMLS:C1333088|ICD10:Q85.8|DOID:3852|UMLS:C0031269|MESH:D010580|SCTID:54411001|NCIT:C3324|GARD:0007378 https://rarediseases.info.nih.gov/diseases/7378/peutz-jeghers-syndrome owl:Class MONDO:0006365 biolink:NamedThing Peutz-Jeghers polyp A hamartomatous polyp that occurs in the stomach, small and large intestines, and rarely within the esophagus, nasopharynx and the urinary tract. The Peutz-Jeghers polyps are grossly lobulated and dark. Microscopically, they have a central core of smooth muscle covered by mucosa. The smooth muscle shows tree-like branching. The question of whether or not the Peutz-Jeghers polyp is precancerous is a matter of controversy. The loss of heterozygosity on chromosome 19p (where the responsible gene LKB1 is located) suggests that the increased risk of malignancy may be due to malignant transformation from hamartoma to adenocarcinoma. --2002 tmpaxzxjjyw_mondo_relaxed.owl Peutz Jeghers polyp|Peutz-Jeghers polyp EFO:1000470|NCIT:C4733 owl:Class UBERON:0001831 biolink:NamedThing parotid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009580 biolink:NamedThing intellectual disability, autosomal recessive 1 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 1|mental retardation, autosomal recessive type 1|MRT1|PRSS12 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 1|autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12|intellectual disability, autosomal recessive 1 UMLS:C1855304|MESH:C565406|OMIM:249500 owl:Class HGNC:9477 biolink:NamedThing PRSS12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8743 biolink:NamedThing PCSK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006074 biolink:NamedThing lumbar region of vertebral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013304 biolink:NamedThing von Willebrand disease 2 Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF). tmpaxzxjjyw_mondo_relaxed.owl VWD2|Von Willebrand disease, type 2N|VWD type 2|von Willebrand disease 2|von Willebrand's disease type 2|von Willebrand disease type II|Von Willebrand disease, type 2|VON WILLEBRAND disease, type 2|Von Willebrand disease, type 2B|von Willebrand disease type 2|Von Willebrand disease, type 2M|VWD, type 2|Von Willebrand disease, type 2A|von willebrand's disease 2 OMIM:613554|Orphanet:166081|Orphanet:166093|UMLS:C1282974|Orphanet:903|Orphanet:166084|Orphanet:166090|ICD10:D68.0|UMLS:C1264040|Orphanet:166087|UMLS:C1282975|UMLS:C1282971|UMLS:C1282968|DOID:0060574|MESH:D056728|SCTID:128107007 owl:Class CL:2000078 biolink:NamedThing placental pericyte Any pericyte cell that is part of a placenta. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-12-02T18:51:03Z cell owl:Class CHEBI:26710 biolink:NamedThing sodium chloride An inorganic chloride salt having sodium(1+) as the counterion. tmpaxzxjjyw_mondo_relaxed.owl rock salt|NaCl|salt|table salt|cloruro sodico|sodium chloride|Natriumchlorid|chlorure de sodium|natrii chloridum|Kochsalz|halite|common salt owl:Class HGNC:9453 biolink:NamedThing PRODH tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004062 biolink:NamedThing neural tube marginal layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18873 biolink:NamedThing IFIH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003975 biolink:NamedThing internal female genitalia tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035450 biolink:NamedThing cervical part of esophagus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012407 biolink:NamedThing pyridoxal phosphate-responsive seizures Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate. tmpaxzxjjyw_mondo_relaxed.owl Pnpo deficiency|pyridoxine-5'-phosphate oxidase deficiency|pyridoxal phosphate-dependent seizures|pyridoxine 5' phosphate oxidase deficiency|PNPO-related neonatal epileptic encephalopathy|pyridoxal 5'-phosphate-dependent epilepsy|pyridoxamine 5-prime-phosphate oxidase deficiency|PNPOD|epileptic encephalopathy, neonatal, Pnpo-related|pyridoxamine 5'-oxidase deficiency|pyridoxamine 5'-phosphate oxidase deficiency|seizures, pyridoxine-resistant, PLP-sensitive|PNPO deficiency OMIM:610090|GARD:0010730|Orphanet:79096|UMLS:C1864723|MESH:C566449|SCTID:724576005|ICD10:G40.8|DOID:0111329 owl:Class HGNC:30260 biolink:NamedThing PNPO tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013701 biolink:NamedThing main body axis tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7881 biolink:NamedThing NOTCH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009992 biolink:NamedThing myoglobinuria, acute recurrent, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl myoglobinuria, familial paroxysmal paralytic|rhabdomyolysis, acute recurrent|myoglobinuria, acute recurrent, autosomal recessive MESH:C564832|OMIM:268200|Orphanet:99845|UMLS:C1849386 owl:Class HGNC:13345 biolink:NamedThing LPIN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032925 biolink:NamedThing respiratory papillomatosis, juvenile recurrent, congenital tmpaxzxjjyw_mondo_relaxed.owl JRRP|RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL OMIM:618803 owl:Class UBERON:0006757 biolink:NamedThing lateral lingual swelling tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006260 biolink:NamedThing lingual swellings tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:04000010 biolink:NamedThing soil surface layer A surface layer which is composed primarily of soil. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0056813 biolink:NamedThing hormone-resistant breast carcinoma Breast carcinoma that does not respond to hormone therapy. tmpaxzxjjyw_mondo_relaxed.owl hormone-refractory breast cancer|hormone-resistant breast carcinoma|hormone-resistant breast cancer NCIT:C114932 owl:Class GO:1903959 biolink:NamedThing regulation of anion transmembrane transport Any process that modulates the frequency, rate or extent of anion transmembrane transport. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014932 biolink:NamedThing orofaciodigital syndrome XV tmpaxzxjjyw_mondo_relaxed.owl orofaciodigital syndrome XV|orofaciodigital syndrome type XV|OFD15|orofaciodigital syndrome 15|oral-Facial-digital syndrome, type 15|Ofds 15 OMIM:617127|UMLS:C4310701 owl:Class HGNC:29110 biolink:NamedThing KIAA0753 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018747 biolink:NamedThing acquired epidermolysis bullosa Epidermolysis bullosa acquisita (EBA) is a subepidermal bullous dermatosis of autoimmune origin that was named as a result of its resemblance to hereditary forms of epidermolysis bullosa (HEB), most notably dystrophic HEB. tmpaxzxjjyw_mondo_relaxed.owl EB acquisita|acquired epidermolysis bullosa|epidermolysis bullosa acquisita|EBA|epidermolysis bullosa Aquisita ICD10:L12.3|NCIT:C84690|MESH:D016107|ICD9:695.19|DOID:4313|ICD10:L12.30|MedDRA:10056508|Orphanet:46487|UMLS:C0079293|EFO:1000691|GARD:0006360|SCTID:2772003 https://rarediseases.info.nih.gov/diseases/6360/epidermolysis-bullosa-acquisita owl:Class UBERON:0002517 biolink:NamedThing basicranium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001701 biolink:NamedThing in utero embryonic development The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035956 biolink:NamedThing epididymal lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16783 biolink:NamedThing CDC73 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000612 biolink:NamedThing kidney corpuscule cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001021 cell owl:Class MONDO:0003629 biolink:NamedThing uterine corpus serous adenocarcinoma A serous adenocarcinoma that involves the uterine corpus. tmpaxzxjjyw_mondo_relaxed.owl body of uterus serous adenocarcinoma|uterine serous carcinoma/uterine papillary serous carcinoma|uterine papillary serous carcinoma UMLS:C1336921|DOID:5750|NCIT:C27838|ONCOTREE:USC owl:Class MONDO:0012312 biolink:NamedThing short QT syndrome type 1 Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene. tmpaxzxjjyw_mondo_relaxed.owl short QT syndrome 1|short QT syndrome type 1|SQT1|SQTS|KCNH2 short QT syndrome|short QT syndrome caused by mutation in KCNH2 MESH:C566506|UMLS:C1865020|OMIM:609620 owl:Class HGNC:6251 biolink:NamedThing KCNH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024361 biolink:NamedThing circadian rhythm sleep disorder A persistent or recurrent pattern of sleep disruption that is primarily due to an alteration of the circadian system or to a misalignment between the endogenous circadian rhythm and the sleep-wake schedule required by an individual's physical environment or social or professional schedule.(DSM IV) tmpaxzxjjyw_mondo_relaxed.owl sleep-wake schedule disorder|disorders of the sleep-wake schedule|circadian sleep disorder NCIT:C95071|ICD10:G47.2|ICD9:327.30|SCTID:3745000 owl:Class MONDO:0014563 biolink:NamedThing mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency tmpaxzxjjyw_mondo_relaxed.owl mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency|mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency|short-chain enoyl-CoA hydratase deficiency|ECHS1D GARD:0013019|UMLS:C4225391|Orphanet:506|OMIM:616277 owl:Class HGNC:3151 biolink:NamedThing ECHS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012864 biolink:NamedThing chromosome 2q32-q33 deletion syndrome 2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features. tmpaxzxjjyw_mondo_relaxed.owl SATB2 syndrome|Del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|2q32q33 microdeletion syndrome|SATB2-associated syndrome|Del(2)(q32)|glass syndrome|monosomy 2q32q33|SAS|glass|2q32q33 microdeletion syndromes|monosomy 2q32|2q32-q33 microdeletion syndrome|monosomy 2q32-q33 ICD10:Q93.5|UMLS:C4304531|Orphanet:251019|MESH:C567350|GARD:0013206|SCTID:719659003|OMIM:612313|UMLS:C2676739|DOID:0060428 owl:Class MONDO:0007092 biolink:NamedThing amelogenesis imperfecta type 1B Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene. tmpaxzxjjyw_mondo_relaxed.owl enam amelogenesis imperfecta|AIH2|hereditary localized enamel hypoplasia|amelogenesis imperfecta, type IB|enamel hypoplasia, hereditary localized|amelogenesis imperfecta caused by mutation in ENAM|autosomal dominant hypoplastic local amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in enam|amelogenesis imperfecta, type 1B|amelogenesis imperfecta, hypoplastic local, autosomal dominant|amelogenesis imperfecta type IB|ENAM amelogenesis imperfecta|AI1B UMLS:C0399368|ICD9:520.5|MESH:C562879|DOID:0110052|ICD10:K00.5|OMIM:104500|SCTID:234961008|Orphanet:100031 owl:Class HGNC:3344 biolink:NamedThing ENAM tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr14q24.1-q24.3 biolink:NamedThing 14q24.1-q24.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class OBO:CHR_9606-chr7q11.23 biolink:NamedThing 7q11.23 (Human) tmpaxzxjjyw_mondo_relaxed.owl 77900000 72700000 hg38 owl:Class MONDO:0011473 biolink:NamedThing Leber congenital amaurosis 5 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the LCA5 gene. tmpaxzxjjyw_mondo_relaxed.owl Leber congenital amaurosis 5|LCA5|Leber congenital amaurosis caused by mutation in LCA5|LCA5 Leber congenital amaurosis|Leber congenital amaurosis type 5|amaurosis congenita of Leber, type 5 UMLS:C1858301|MESH:C536602|GARD:0009983|OMIM:604537|ICD10:H35.5|DOID:0110215 https://rarediseases.info.nih.gov/diseases/9983/leber-congenital-amaurosis-5 owl:Class HGNC:31923 biolink:NamedThing LCA5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015106 biolink:NamedThing bicarbonate transmembrane transporter activity Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7905 biolink:NamedThing NPHP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7436 biolink:NamedThing MTHFR tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q33.1 biolink:NamedThing 2q33.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 202500000 196600000 hg38 owl:Class UBERON:0013755 biolink:NamedThing arterial blood tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:85234 biolink:NamedThing human blood serum metabolite Any metabolite (endogenous or exogenous) found in human blood serum samples. tmpaxzxjjyw_mondo_relaxed.owl human blood serum metabolites owl:Class CL:0000126 biolink:NamedThing macroglial cell A neuroglial cell of ectodermal origin, i.e., the astrocytes and oligodendrocytes considered together. tmpaxzxjjyw_mondo_relaxed.owl macrogliocyte BTO:0000771|CALOHA:TS-2027|FMA:54538 cell owl:Class GO:0006887 biolink:NamedThing exocytosis A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. tmpaxzxjjyw_mondo_relaxed.owl vesicle exocytosis|nonselective vesicle exocytosis owl:Class MONDO:0000261 biolink:NamedThing adenoiditis An inflammatory disease involving a pathogenic inflammatory response in the pharyngeal tonsil. tmpaxzxjjyw_mondo_relaxed.owl chronic adenoiditis|pharyngeal tonsilitis|inflammation of pharyngeal tonsil|pharyngeal tonsil inflammation ICD10:J35.02|SCTID:70020005|DOID:0050145|UMLS:C0001427|UMLS:C0396023|ICD9:474.01 owl:Class UBERON:0001732 biolink:NamedThing pharyngeal tonsil tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10820 biolink:NamedThing SH2D1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018661 biolink:NamedThing Zika virus infectious disease Mosquito-born virus disease characterized by a clinical course that may be asymptomatic or mild with fever, conjunctivitis, muscle and joint pain, headache, exanthema, but may also be associated with severe neurological (meningitis, meningoencephalitis and myelitis) and auto-immune (Guillain-Barre syndrome) complications, as well as a potential increase of birth defects (microcephaly) if the infection occurs during pregnancy. tmpaxzxjjyw_mondo_relaxed.owl Zika fever|Zika virus caused disease or disorder|Zika virus infectious disease|Zika virus disease|Zika|Zika virus disease or disorder|congenital Zika virus infection|congenital Zika syndrome|fever, Zika|ZikV infection|Zika virus infection NCIT:C128423|UMLS:CN237724|MESH:D000071243|DOID:0060478|ICD10:A92.8|ICD10:U06|GARD:0012894|ICD10:A92.5|UMLS:C0276289|SCTID:3928002|Orphanet:448237 owl:Class MONDO:0014468 biolink:NamedThing congenital myasthenic syndrome 7 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital myasthenic syndrome 7 presynaptic|congenital myasthenic syndrome caused by mutation in SYT2|congenital myasthenic syndrome type 7|CMS7|SYT2 congenital myasthenic syndrome|myasthenic syndrome, congenital, 7, presynaptic|myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy OMIM:616040|UMLS:C4015038|DOID:0110659 owl:Class HGNC:11510 biolink:NamedThing SYT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002501 biolink:NamedThing brain glioblastoma A WHO grade IV malignant astrocytic tumor that arises from the brain, usually the cerebral hemispheres. It is characterized by the presence of poorly differentiated astrocytes, cellular polymorphism, nuclear atypia, and increased mitotic activity. The prognosis is poor. tmpaxzxjjyw_mondo_relaxed.owl glioblastoma multiforme of the brain|grade IV brain astrocytic tumor|brain glioblastoma|grade IV astrocytic neoplasm of the brain|glioblastoma (disease) of brain|brain glioblastoma multiforme|grade IV astrocytic tumor of the brain|brain glioblastoma multiforme (disease)|grade IV brain astrocytic neoplasm|grade IV astrocytic neoplasm of brain|glioblastoma multiforme of brain|grade IV astrocytic tumor of brain|brain glioblastoma (disease) EFO:0006545|DOID:3073|UMLS:C0349543|SCTID:276828006|NCIT:C4642 owl:Class MONDO:0024570 biolink:NamedThing hyperparathyroidism 4 Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene. tmpaxzxjjyw_mondo_relaxed.owl GCM2 familial isolated hyperparathyroidism|familial isolated hyperparathyroidism caused by mutation in GCM2|hyperparathyroidism 4|HRPT4|hyperparathyroidism type 4 UMLS:C4479229|UMLS:CN240514|OMIM:617343|Orphanet:99879 owl:Class UBERON:0016509 biolink:NamedThing cavity of right ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012977 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 1B Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 1B|autosomal recessive deafness 1B|autosomal recessive nonsyndromic deafness type 1B|autosomal recessive nonsyndromic deafness caused by mutation in GJB6|deafness, autosomal recessive 1B|GJB6 autosomal recessive nonsyndromic deafness|Autosomal recessive deafness type 1B|deafness, autosomal recessive type 1B|DFNB1B ICD10:H90.3|GTR:AN1075764|UMLS:CN674504|OMIM:612645|DOID:0110476|MESH:C567213|UMLS:C2675235 owl:Class CHEBI:50910 biolink:NamedThing neurotoxin A poison that interferes with the functions of the nervous system. tmpaxzxjjyw_mondo_relaxed.owl neurotoxic agent|nerve poison|neurotoxicant|neurotoxic agents|nerve poisons|neurotoxins|agente neurotoxico owl:Class HGNC:6161 biolink:NamedThing ITGB6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0011101 biolink:NamedThing chorionic trophoblast cell Cells of the uterine chorion that acquire specialized structural and/or functional features that characterize chorionic trophoblasts. These cells will migrate towards the spongiotrophoblast layer and give rise to syncytiotrophoblasts of the labyrinthine layer. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006470 biolink:NamedThing tonsillar squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of the tonsil|squamous cell carcinoma of tonsil|scc of tonsil|palatine tonsil squamous cell carcinoma|scc of the tonsil|tonsillar scc|tonsil scc EFO:1000597|NCIT:C8183|UMLS:C0280317 owl:Class UBERON:0002373 biolink:NamedThing palatine tonsil tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012516 biolink:NamedThing mandibulofacial dysostosis-microcephaly syndrome Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl MFDGA|MFDM|Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate|Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate|MFDM syndrome|Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome|mandibulofacial dysostosis, Guion-Almeida type|mandibulofacial dysostosis with microcephaly|mandibulofacial dysostosis-microcephaly syndrome|Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate GARD:0010056|SCTID:711543008|MESH:C537405|DOID:0080196|UMLS:C1864652|OMIM:610536|Orphanet:79113|ICD10:Q87.0 owl:Class HGNC:30858 biolink:NamedThing EFTUD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013689 biolink:NamedThing appendix lymphoid tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004797 biolink:NamedThing blood vessel layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001334 biolink:NamedThing female urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000047 biolink:NamedThing neuronal stem cell Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors. tmpaxzxjjyw_mondo_relaxed.owl neural stem cell|NSC BTO:0002881|CALOHA:TS-2360|FMA:86684 cell owl:Class HGNC:9457 biolink:NamedThing PLPBP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010849 biolink:NamedThing palmoplantar keratoderma, Bothnian type tmpaxzxjjyw_mondo_relaxed.owl palmoplantar keratoderma, Bothnian type|PPKB Orphanet:2337|DOID:0111707|GARD:0001862|OMIM:600231 owl:Class CHEBI:35441 biolink:NamedThing antiinfective agent A substance used in the prophylaxis or therapy of infectious diseases. tmpaxzxjjyw_mondo_relaxed.owl anti-infective drugs|antiinfective agents|anti-infective agents|antiinfective drug owl:Class HsapDv:0000119 biolink:NamedThing 25-year-old human stage Adult stage that refers to an adult who is over 25 and under 26. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008610 biolink:NamedThing blue color blindness Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision. tmpaxzxjjyw_mondo_relaxed.owl tritan defect|colorblindness, tritan|tritan colour blindness|congenital tritanopia|blue colorblindness|tritanopia|colorblindness, tritanopic|blue colour blindness ICD9:368.53|OMIM:190900|UMLS:C0155017|DOID:11661|SCTID:51886007|ICD10:H53.5|Orphanet:88629|ICD10:H53.55 owl:Class HGNC:1012 biolink:NamedThing OPN1SW tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014438 biolink:NamedThing Bardet-Biedl syndrome 10 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene. tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome type 10|BBS10|Bardet-Biedl syndrome caused by mutation in BBS10|Bardet-Biedl syndrome 10|BBS10 Bardet-Biedl syndrome EFO:0009022|MESH:C565919|OMIM:615987|DOID:0110132|GARD:0010209|UMLS:C1859568|ICD10:Q87.89 owl:Class HGNC:26291 biolink:NamedThing BBS10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009885 biolink:NamedThing interlobar artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009913 biolink:NamedThing renal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003460 biolink:NamedThing arm bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013065 biolink:NamedThing premature ovarian failure 7 Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene. tmpaxzxjjyw_mondo_relaxed.owl premature ovarian failure type 7|Pof7|NR5A1 primary ovarian failure|primary ovarian failure caused by mutation in NR5A1|premature ovarian failure 7|adrenal insufficiency, Nr5A1-related UMLS:C2751825|OMIM:612964|MESH:C567838 owl:Class HGNC:7983 biolink:NamedThing NR5A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16p1 biolink:NamedThing 16p1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 36800000 0 hg38 owl:Class UBERON:0012242 biolink:NamedThing internal urethral orifice tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007595 biolink:NamedThing factor VII and Factor VIII, combined deficiency of tmpaxzxjjyw_mondo_relaxed.owl factor VII and Factor VIII, combined deficiency of|factor 7 and Factor VIII, combined deficiency of|familial multiple coagulation Factor deficiency 4|multiple coagulation Factor deficiency 4 MESH:C565025|OMIM:134430|UMLS:C1851377 owl:Class MONDO:0010326 biolink:NamedThing intellectual disability, X-linked 46 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6|mental retardation, X-linked 46|mental retardation, X-linked type 46|intellectual disability, X-linked type 46|intellectual disability, X-linked 46|MRX46|ARHGEF6 non-syndromic X-linked intellectual disability OMIM:300436|UMLS:C1845526|Orphanet:777|MESH:C564513 owl:Class HGNC:685 biolink:NamedThing ARHGEF6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014363 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 101 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene. tmpaxzxjjyw_mondo_relaxed.owl DFNB101|autosomal recessive deafness 101|autosomal recessive nonsyndromic deafness type 101|GRXCR2 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 101|autosomal recessive nonsyndromic deafness 101|deafness, autosomal recessive 101|autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2 ICD10:H90.3|DOID:0110462|UMLS:C3892049|OMIM:615837|Orphanet:90636 owl:Class UBERON:0009564 biolink:NamedThing distal limb integumentary appendage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014241 biolink:NamedThing leukemia, acute lymphoblastic, susceptibility to, 3 Any precursor B-cell acute lymphoblastic leukemia in which the cause of the disease is a mutation in the PAX5 gene. tmpaxzxjjyw_mondo_relaxed.owl PAX5 precursor B-cell acute lymphoblastic leukemia|precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5|susceptibility to acute lymphoblastic leukemia 3|ALL3|leukemia, acute lymphoblastic, susceptibility to, 3|leukemia, acute lymphoblastic, susceptibility to, type 3 UMLS:C3809874|OMIM:615545|Orphanet:99860 owl:Class UBERON:0009622 biolink:NamedThing pronephric proximal straight tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:MF_0000076 biolink:NamedThing intentional modality A structural capacity that shapes how an object of intentionality is represented for the subject. tmpaxzxjjyw_mondo_relaxed.owl intentional structure|intentional mode An example of an intentional modality is the capacity to represent objects of intentionality as unfolding in time or being time contingent. owl:Class UBERON:0036074 biolink:NamedThing vein of vestibular aqueduct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007160 biolink:NamedThing inferior petrosal sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014672 biolink:NamedThing osteogenesis imperfecta type 17 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene. tmpaxzxjjyw_mondo_relaxed.owl osteogenesis imperfecta, type XVII|osteogenesis imperfecta caused by mutation in SPARC|OI17|osteogenesis imperfecta, type 17|SPARC osteogenesis imperfecta|osteogenesis imperfecta type XVII ICD10:Q78.0|Orphanet:216820|DOID:0110338|OMIM:616507|UMLS:C4225301 owl:Class HGNC:11219 biolink:NamedThing SPARC tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004872 biolink:NamedThing splanchnic layer of lateral plate mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11602 biolink:NamedThing TBX3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006068 biolink:NamedThing ACTH-producing pituitary gland adenoma An adenoma of the pituitary gland that produces corticotropin. The vast majority of cases are associated with Cushing disease. Clinical manifestations include truncal obesity with thin extremities, thinning of the skin, osteoporosis, and a tendency to bruise easily. Silent or hormonally non-functioning ACTH producing adenomas have also been described. They produce symptoms of a mass-related lesion. tmpaxzxjjyw_mondo_relaxed.owl corticotroph adenoma|ACTH secreting adenoma of the pituitary|corticotropin secreting pituitary gland adenoma|adrenocorticotropin secreting pituitary gland adenoma|adrenocorticotropin producing pituitary adenoma|adrenocorticotropin secreting pituitary adenoma|ACTH-secreting adenoma of pituitary|ACTH producing pituitary gland adenoma|corticotropin secreting adenoma of the pituitary|corticotropic adenoma|pituitary ACTH-secreting adenoma|pituitary gland ACTH-secreting adenoma|ACTH-producing pituitary gland adenoma|adrenocorticotropin producing adenoma of pituitary gland|adrenocorticotropin secreting adenoma of pituitary gland|adrenocorticotropin secreting adenoma of the pituitary gland|ACTH secreting adenoma of pituitary|pituitary ACTH secreting adenoma|ACTH-secreting adenoma of the pituitary|ACTHoma|ACTH-secreting adenoma of pituitary gland|adrenocorticotropin producing adenoma of pituitary|adrenocorticotropin producing pituitary gland adenoma|adrenocorticotropin secreting adenoma of pituitary|adrenocorticotropin producing adenoma of the pituitary|adrenocorticotropin secreting adenoma of the pituitary|Corticotropinoma|pituitary corticotropin secreting adenoma|ACTH-producing pituitary adenoma|adrenocorticotropin producing adenoma of the pituitary gland|ACTH-secreting adenoma of the pituitary gland EFO:1000066|UMLS:C1306214|NCIT:C7462 owl:Class NCBITaxon:69826 biolink:NamedThing Ornithodoros savignyi tmpaxzxjjyw_mondo_relaxed.owl Argas savignyi GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001080 biolink:NamedThing acute gonococcal cervicitis Acute form of gonococcal cervicitis. tmpaxzxjjyw_mondo_relaxed.owl gonococcal cervicitis (acute)|acute gonorrhea of cervix|gonococcal cervicitis, acute UMLS:C0153195|SCTID:20943002|DOID:10615|ICD9:098.15 owl:Class MONDO:0014447 biolink:NamedThing Bardet-Biedl syndrome 19 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene. tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome 19|BBS19|IFT27 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in IFT27|Bardet-Biedl syndrome type 19 DOID:0110141|UMLS:C3889475|OMIM:615996|ICD10:Q87.89 owl:Class HGNC:30521 biolink:NamedThing SLC46A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014651 biolink:NamedThing acrofacial dysostosis Cincinnati type Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene. tmpaxzxjjyw_mondo_relaxed.owl POLR1A acrofacial dysostosis|acrofacial dysostosis caused by mutation in POLR1A|acrofacial dysostosis, Cincinnati type|AFDCIN UMLS:C4225317|OMIM:616462|DOID:0060353 owl:Class MONDO:0001667 biolink:NamedThing streptobacillus infectious disease tmpaxzxjjyw_mondo_relaxed.owl infection caused by streptobacillus|streptobacillus infection UMLS:C0947939|SCTID:721738002 owl:Class NCBITaxon:34104 biolink:NamedThing Streptobacillus tmpaxzxjjyw_mondo_relaxed.owl Haverhillia PMID:24912824|GC_ID:11|PMID:25858245|PMID:26438009 ncbi_taxonomy owl:Class MONDO:0014534 biolink:NamedThing lissencephaly 6 with microcephaly Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene. tmpaxzxjjyw_mondo_relaxed.owl Microlissencephaly caused by mutation in KATNB1|microlissencephaly caused by mutation in KATNB1|KATNB1 Microlissencephaly|LIS6|lissencephaly 6 with microcephaly|KATNB1 microlissencephaly OMIM:616212 owl:Class HGNC:6217 biolink:NamedThing KATNB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16p13.3 biolink:NamedThing 16p13.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 7800000 0 hg38 owl:Class GO:0046929 biolink:NamedThing negative regulation of neurotransmitter secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a neurotransmitter. tmpaxzxjjyw_mondo_relaxed.owl inhibition of neurotransmitter secretion|down regulation of neurotransmitter secretion|conotoxin activity|down-regulation of neurotransmitter secretion|downregulation of neurotransmitter secretion owl:Class UBERON:0001530 biolink:NamedThing common carotid artery plus branches tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012349 biolink:NamedThing spondylocostal dysostosis 3, autosomal recessive Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the LFNG gene. tmpaxzxjjyw_mondo_relaxed.owl spondylocostal dysostosis 3, autosomal recessive|SCDO3|LFNG autosomal recessive spondylocostal dysostosis|autosomal recessive spondylocostal dysostosis caused by mutation in LFNG|SCOD3|spondylocostal dysostosis 3 Orphanet:2311|OMIM:609813|UMLS:C1853296|GARD:0004973 owl:Class HGNC:13830 biolink:NamedThing CNTNAP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004307 biolink:NamedThing sarcomatosis of the meninges A rare condition characterized by diffuse spread of sarcoma cells throughout the meninges. The neoplastic cells are derived from meningeal connective tissue. Clinically, this disorder may present as a fulminant pachymeningitis and/or encephalitis. tmpaxzxjjyw_mondo_relaxed.owl sarcomatosis of the meninges|sarcomatosis of meninges|meningeal cluster sarcomatosis|meningeal sarcomatosis (morphologic abnormality)|meningeal sarcomatosis|meninges sarcomatosis DOID:7613|NCIT:C4334|UMLS:C0334612|ICDO:9539/3 owl:Class FOODON:03510019 biolink:NamedThing cattle as consumer tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr2q23.1 biolink:NamedThing 2q23.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 149000000 147900000 hg38 owl:Class OBO:CHR_9606-chr2q23 biolink:NamedThing 2q23 (Human) tmpaxzxjjyw_mondo_relaxed.owl 154000000 147900000 hg38 owl:Class MONDO:0011822 biolink:NamedThing Bartter disease type 3 Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. tmpaxzxjjyw_mondo_relaxed.owl Bartter syndrome type 3|BARTS3|Bartter syndrome, type 3|classic Bartter syndrome|Bartter disease type 3|Bartter syndrome classic|Bartter syndrome type III|adult Bartter syndrome|Bartter syndrome, type 3, with hypocalciuria|Bartter syndrome, classic OMIM:607364|Orphanet:93605|GARD:0009659|UMLS:C1846343|SCTID:700111000|Orphanet:112|ICD10:E26.8|DOID:0110144 owl:Class HGNC:2027 biolink:NamedThing CLCNKB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001426 biolink:NamedThing mediastinum neurofibroma A neurofibroma that arises from the posterior mediastinum. Excision is usually curative. tmpaxzxjjyw_mondo_relaxed.owl neurofibroma of mediastinum|mediastinal neurofibroma|mediastinum neurofibroma|neurofibroma of the mediastinum UMLS:C1334674|NCIT:C6631|DOID:12064 owl:Class GO:0071742 biolink:NamedThing IgE immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgE immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0040008 biolink:NamedThing regulation of growth Any process that modulates the frequency, rate or extent of the growth of all or part of an organism so that it occurs at its proper speed, either globally or in a specific part of the organism's development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0040007 biolink:NamedThing growth The increase in size or mass of an entire organism, a part of an organism or a cell. tmpaxzxjjyw_mondo_relaxed.owl non-developmental growth|growth pattern owl:Class UBERON:0003506 biolink:NamedThing chest blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050767 biolink:NamedThing regulation of neurogenesis Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048699 biolink:NamedThing generation of neurons The process in which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons. tmpaxzxjjyw_mondo_relaxed.owl neuron generation owl:Class MONDO:0018769 biolink:NamedThing isosporiasis An intestinal infection with Isospora belli. tmpaxzxjjyw_mondo_relaxed.owl infection by Isospora belli and Isospora hominis|cystoisosporiasis|Isosporosis|Cystoisospora belli disease or disorder|Cystoisospora belli caused disease or disorder|Cystoisospora belli infectious disease MedDRA:10023076|NCIT:C4076|DOID:2112|ICD10:A07.3|EFO:0007232|MESH:D021865|Orphanet:472|UMLS:C0311386|GARD:0003033|SCTID:371423007 owl:Class MONDO:0014922 biolink:NamedThing myofibrillar myopathy 7 Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene. tmpaxzxjjyw_mondo_relaxed.owl myopathy, myofibrillar, 7|myofibrillar myopathy (disease) caused by mutation in KY|alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy|myopathy, myofibrillar, type 7|MFM7|KY myofibrillar myopathy (disease) OMIM:617114|UMLS:C4310711|DOID:0080098 owl:Class HGNC:26576 biolink:NamedThing KY tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0036362 biolink:NamedThing wall of anal canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000750 biolink:NamedThing Delayed speech and language development A degree of language development that is significantly below the norm for a child of a specified age. tmpaxzxjjyw_mondo_relaxed.owl Poor speech development|Poor speech acquisition|Impaired speech and language development|Delayed language development|Delayed speech and language development|Impaired speech development|Language delay|Late-onset speech development|Speech difficulties|Language delayed|Poor language development|Speech and language difficulties|Speech and language delay|Delayed speech|Speech delay|Delayed speech development|Delayed speech acquisition|Deficiency of speech development|Language development deficit SNOMEDCT_US:229721007|UMLS:C0241210|UMLS:C0023012|SNOMEDCT_US:29164008|UMLS:C0233715|UMLS:C0454644|MSH:D007805|SNOMEDCT_US:62415009|SNOMEDCT_US:162294008 Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. HP:0007127|HP:0007172|HP:0002116|HP:0002399|HP:0007004|HP:0002336|HP:0002498|HP:0006936|HP:0002117|HP:0007170 human_phenotype owl:Class MONDO:0010041 biolink:NamedThing Charlevoix-Saguenay spastic ataxia Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy. tmpaxzxjjyw_mondo_relaxed.owl spastic ataxia Charlevoix-Saguenay type|spastic ataxia of Charlevoix-Saguenay|sacs|SPAX6|Charlevoix-Saguenay spastic ataxia|autosomal recessive spastic ataxia of Charlevoix-Saguenay|autosomal recessive spastic ataxia type 6|spastic ataxia, Charlevoix-Saguenay type|ARSACS|spastic ataxia 6, autosomal recessive SCTID:702445005|UMLS:C1849140|Orphanet:98|OMIM:270550|MESH:C536787|DOID:0050946|ICD10:G11.1|GARD:0004910 owl:Class HGNC:10519 biolink:NamedThing SACS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010052 biolink:NamedThing spermatogenic failure 4 Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene. tmpaxzxjjyw_mondo_relaxed.owl azoospermia caused by mutation in SYCP3|pregnancy loss, recurrent, 4|SPGF4|spermatogenic failure 4|spermatogenesis arrest|spermatogenic failure type 4|pregnancy loss, recurrent, susceptibility to, 4|SYCP3 azoospermia|azoospermia with maturation arrest|arrest of spermatogenesis|azoospermia due to Perturbations of meiosis OMIM:270960|MESH:C536875|GARD:0008530|DOID:0070176 owl:Class HGNC:18130 biolink:NamedThing SYCP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0035898 biolink:NamedThing parathyroid hormone secretion The regulated release of parathyroid hormone into the circulatory system. tmpaxzxjjyw_mondo_relaxed.owl PTH secretion|parathyrin secretion|parathormone secretion owl:Class MONDO:0016588 biolink:NamedThing infantile mercury poisoning Infantile mercury poisoning is a rare intoxication affecting children, most commonly characterized by erythema of the hands, feet and nose, edematous, painful, pink to red, desquamating fingers and toes, bluish, cold and wet extremities, excessive sweating, irritability, photophobia, muscle weakness, diffuse hypotonia, paresthesia, hypertension and tachycardia, due to elemental, organic or inorganic mercury exposure. Additional manifestations include alopecia, loss of appetite, excessive salivation with red and swollen gums, tooth and nail loss, and insomnia. tmpaxzxjjyw_mondo_relaxed.owl Swift disease|Swift-Feer disease|Feer disease|infantile mercury intoxication|pink disease|infantile acrodynia|erythroedema polyneuritis ICD10:T56.1|MESH:D000170|UMLS:CN201782|Orphanet:247165|SCTID:66695004 owl:Class UBERON:0003422 biolink:NamedThing mesenchyme of umbilical cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:37395 biolink:NamedThing mucopolysaccharide Any of the group of polysaccharides composed of alternating units from uronic acids and glycosamines, and commonly partially esterified with sulfuric acid. tmpaxzxjjyw_mondo_relaxed.owl mucopolisacaridos|Mukopolysaccharid|mucopolisacarido|Mucopolysaccharid|Mucopolysaccharide|mucopolysaccharides owl:Class MONDO:0024492 biolink:NamedThing tumor grade 2, general grading system A morphologic qualifier indicating that a cancerous lesion is moderately differentiated. tmpaxzxjjyw_mondo_relaxed.owl G2|grade II|intermediate grade|grade 2|moderately differentiated EFO:0005746|NCIT:C28078 owl:Class MONDO:0013855 biolink:NamedThing influenza, severe, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl susceptibility to severe influenza|influenza, severe, susceptibility to OMIM:614680 owl:Class HGNC:5414 biolink:NamedThing IFITM3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12362 biolink:NamedThing TSC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014144 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2S Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures. tmpaxzxjjyw_mondo_relaxed.owl LGMD2S|muscular dystrophy, limb-girdle, type 2S|TRAPPC11 autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11|limb-girdle muscular dystrophy type 2S Orphanet:369840|ICD10:G71.0|OMIM:615356|GARD:0012543|Orphanet:369847|UMLS:C3809236|DOID:0110287 owl:Class HGNC:25751 biolink:NamedThing TRAPPC11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:30740 biolink:NamedThing TARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007931 biolink:NamedThing vitelliform macular dystrophy 2 Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. tmpaxzxjjyw_mondo_relaxed.owl vitelliform macular dystrophy, juvenile-onset|macular degeneration, polymorphic vitelline|BMD|macular dystrophy, vitelliform, type 2|early-onset vitelliform macular dystrophy|vitelliform macular dystrophy, early-onset|macular Degeneration, polymorphic vitelline|Best vitelliform macular dystrophy, multifocal|Best disease|BVMD|VMD2|juvenile-onset vitelliform macular dystrophy|vitelliform macular dystrophy type 2|polymorphic vitelline macular degeneration|vitelliform macular dystrophy, type 2|BEST1 retinopathy|Best macular dystrophy|macular dystrophy, vitelliform, 2 GARD:0010301|UMLS:C0339510|Orphanet:1243|SCTID:763387005|OMIM:153700|GARD:0000182|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy owl:Class HGNC:12703 biolink:NamedThing BEST1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012511 biolink:NamedThing preterm premature rupture of the membranes A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. tmpaxzxjjyw_mondo_relaxed.owl PPROM|preterm premature rupture of the membranes NCIT:C92862|DOID:0111144|MESH:C563032|OMIM:610504|SCTID:312974005 owl:Class HGNC:1546 biolink:NamedThing SERPINH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003820 biolink:NamedThing prostate bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12762 biolink:NamedThing WFS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010035 biolink:NamedThing Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems. tmpaxzxjjyw_mondo_relaxed.owl Smith Lemli Opitz syndrome|RSH syndrome|polydactyly, sex reversal, renal hypoplasia, and unilobular lung|7-dehydrocholesterol reductase deficiency|SLO syndrome|SLOS|Rutledge lethal multiple congenital anomaly syndrome|polydactyly, sex reversal, renal hypoplasia, and unilobar lung|lethal acrodysgenital syndrome|Smith-Lemli-Opitz syndrome|Smith-Opitz-inborn syndrome MESH:D019082|NCIT:C85071|ICD10:Q87.1|GARD:0005683|Orphanet:818|ICD10:E78.72|ICD9:759.89|DOID:14692|OMIM:270400|UMLS:C0175694|SCTID:43929004 https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome owl:Class GO:0047598 biolink:NamedThing 7-dehydrocholesterol reductase activity Catalysis of the reaction: cholesterol + NADP+ = cholesta-5,7-dien-3-beta-ol + NADPH + H+. tmpaxzxjjyw_mondo_relaxed.owl cholesterol:NADP+ delta7-oxidoreductase activity|7-DHC reductase activity|sterol delta7-reductase activity|sterol Delta(7)-reductase activity owl:Class UBERON:0015238 biolink:NamedThing pineal complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6518 biolink:NamedThing LBR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014247 biolink:NamedThing familial episodic pain syndrome with predominantly lower limb involvement A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age. tmpaxzxjjyw_mondo_relaxed.owl episodic pain syndrome, familial, 3|FEPS3|episodic pain syndrome, familial, type 3 UMLS:C3809899|Orphanet:391384|ICD10:M79.6|NCIT:C125390|Orphanet:391392|OMIM:615552 owl:Class HGNC:10583 biolink:NamedThing SCN11A tmpaxzxjjyw_mondo_relaxed.owl owl:Class NBO:0000389 biolink:NamedThing reflexive behavior "Behavior related to involuntary movement in response to a stimulus." [NBO:GVG] tmpaxzxjjyw_mondo_relaxed.owl reflex behaviour owl:Class GO:0060004 biolink:NamedThing reflex An automatic response to a stimulus beginning with a nerve impulse from a receptor and ending with the action of an effector such as a gland or a muscle. Signaling never reaches a level of consciousness. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002079 biolink:NamedThing pancreatic ductal cell Epithelial cell found in the ducts of the pancreas. This cell type contributes to the high luminal pH. tmpaxzxjjyw_mondo_relaxed.owl FMA:63099 tmeehan 2010-06-30T08:49:43Z cell owl:Class HP:0003202 biolink:NamedThing Skeletal muscle atrophy The presence of skeletal muscular atrophy (which is also known as amyotrophy). tmpaxzxjjyw_mondo_relaxed.owl Neurogenic muscle atrophy|Muscle degeneration|Neurogenic muscle atrophy, especially in the lower limbs|Muscle hypotrophy|Muscular atrophy|Amyotrophy involving the extremities|Muscle wasting|Amyotrophy|Muscle atrophy|Neurogenic muscular atrophy|Muscle atrophy, neurogenic UMLS:C0270948|UMLS:C1843479|MSH:D009133|UMLS:C0234958|UMLS:C0541794|SNOMEDCT_US:74035001 HP:0007171|HP:0009048|HP:0003702|HP:0003746|HP:0003671|HP:0009010|HP:0001299|HP:0006995|HP:0007356|HP:0100868|HP:0003545 human_phenotype owl:Class MONDO:0003720 biolink:NamedThing kidney fibrosarcoma A usually aggressive malignant neoplasm arising from the kidney. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpaxzxjjyw_mondo_relaxed.owl kidney fibrosarcoma|fibrosarcoma of the kidney|kidney fibrosarcoma (disease)|renal fibrosarcoma|fibrosarcoma of kidney DOID:5982|UMLS:C0238208|NCIT:C7726 owl:Class MONDO:0007922 biolink:NamedThing lymphedema-distichiasis syndrome Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations. tmpaxzxjjyw_mondo_relaxed.owl lymphedema with distichiasis|lymphedema-distichiasis syndrome|lymphedema-distichiasis syndrome with renal disease and diabetes mellitus|hereditary lymphedema-distichiasis syndrome (subtype) Orphanet:33001|MESH:C537710|DOID:0111509|ICD9:743.63|NCIT:C128191|OMIM:153400|UMLS:C0265345|GARD:0000333|ICD10:Q82.0|SCTID:8634009 https://rarediseases.info.nih.gov/diseases/333/lymphedema-distichiasis-syndrome owl:Class GO:0033045 biolink:NamedThing regulation of sister chromatid segregation Any process that modulates the frequency, rate or extent of sister chromatid segregation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000819 biolink:NamedThing sister chromatid segregation The cell cycle process in which sister chromatids are organized and then physically separated and apportioned to two or more sets. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29170 biolink:NamedThing FAN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:145795 biolink:NamedThing digoxin(1-) An organic anion that is the conjugate base of digoxin resulting from the deprotonation of furanone moiety; major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl digoxin anion|digoxin|12beta,14-dihydroxy-17beta-(5-oxo-2,5-dihydrofuran-2-id-3-yl)-5beta,14beta-androstan-3beta-yl 2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranoside owl:Class MONDO:0000705 biolink:NamedThing Clostridium difficile colitis A bacterial infection of the colon secondary to infection with Clostridium difficile bacteria. This infection generally results from the loss of normal gut flora secondary to recent antibiotic use, and manifests as copious watery stools, with associated abdominal pain and myalgia. C. difficile is the most common cause of pseudomembranous colitis, and can progress to toxic megacolon if left untreated. tmpaxzxjjyw_mondo_relaxed.owl pseudomembranous colitis|Clostridioides difficile colitis (disease)|Clostridium difficile infection|Clostridioides difficile caused colitis (disease)|C. diff infection|C. diff colitis MESH:D004761|SCTID:423590009|MedDRA:10009657|ICD10:A04.7|EFO:0009130|DOID:0060185|NCIT:C35286 owl:Class NCBITaxon:1496 biolink:NamedThing Clostridioides difficile tmpaxzxjjyw_mondo_relaxed.owl Clostridium difficile|Bacillus difficilis|Peptoclostridium difficile|Clostridium difficle PMID:27370902|PMID:23834245|PMID:27902176|GC_ID:11 NCBITaxon:1581190|NCBITaxon:1440055 ncbi_taxonomy owl:Class MONDO:0021443 biolink:NamedThing benign neoplasm of lymph node A benign neoplasm that involves the lymph node. tmpaxzxjjyw_mondo_relaxed.owl benign lymph node tumor|benign tumor of the lymph node|benign tumor of lymph node|benign neoplasm of the lymph node|lymph node benign neoplasm|benign lymph node neoplasm UMLS:C0154054|DOID:0080617|NCIT:C3636|SCTID:92197001|ICD9:229.0 owl:Class MONDO:0015130 biolink:NamedThing acquired chronic primary adrenal insufficiency An instance of chronic primary adrenal insufficiency that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired chronic primary adrenal insufficiency Orphanet:101963 owl:Class MONDO:0012869 biolink:NamedThing intellectual disability, autosomal dominant 22 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant mental retardation 22|intellectual disability, autosomal dominant type 22|ZBTB18 autosomal dominant non-syndromic intellectual disability|autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18|chromosome 1Qter deletion syndrome|autosomal dominant non-syndromic intellectual disability 22|autosomal dominant intellectual disability 22|mental retardation, autosomal dominant type 22|MRD22|intellectual disability, autosomal dominant 22|mental retardation, autosomal dominant 22|chromosome 1Q43-q44 deletion syndrome OMIM:612337|UMLS:C3808184|DOID:0070052|MESH:C567346|Orphanet:36367 owl:Class HGNC:13030 biolink:NamedThing ZBTB18 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:10358 biolink:NamedThing Cytomegalovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011876 biolink:NamedThing juvenile absence epilepsy Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence seizures, frequently associated with a long-life prevalence of generalized tonic-clonic seizures (GTCS) and sporadic myoclonic jerks. tmpaxzxjjyw_mondo_relaxed.owl susceptibility to juvenile absence epilepsy 1|EJA1|epilepsy, juvenile absence, susceptibility to, type 1|epilepsy, juvenile absence, susceptibility to, 1|JAE|epilepsy juvenile absence GARD:0002162|DOID:0060172|NCIT:C129868|SCTID:230413002|OMIMPS:607631|Orphanet:1941|UMLS:C4317339|OMIM:607631|ICD10:G40.3 owl:Class UBERON:0003688 biolink:NamedThing omentum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001178 biolink:NamedThing visceral peritoneum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001542 biolink:NamedThing common peroneal nerve lesion A peripheral nerve lesion that involves the common fibular nerve. tmpaxzxjjyw_mondo_relaxed.owl common fibular nerve peripheral nerve lesion|peripheral nerve lesion of common fibular nerve UMLS:C0270909|SCTID:399107008|ICD10:G57.3|ICD10:G57.30|ICD9:355.3|DOID:12527 owl:Class GO:0034982 biolink:NamedThing mitochondrial protein processing The peptide cleavage of mitochondrial proteins, including cleavage contributing to their import. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial protein modification owl:Class OBO:CHR_9606-chr1p21 biolink:NamedThing 1p21 (Human) tmpaxzxjjyw_mondo_relaxed.owl 106700000 94300000 hg38 owl:Class MONDO:0032630 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 26 tmpaxzxjjyw_mondo_relaxed.owl MC1DN26|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 OMIM:618247 owl:Class HGNC:7693 biolink:NamedThing NDUFA9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014199 biolink:NamedThing developmental and epileptic encephalopathy, 17 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 17|GNAO1 encephalopathy|DEE17|EIEE17|early infantile epileptic encephalopathy caused by mutation in GNAO1|epileptic encephalopathy, early infantile, type 17|early infantile epileptic encephalopathy-17|GNAO1 early infantile epileptic encephalopathy GARD:0013378|DOID:0080450|OMIM:615473|UMLS:C3809606 owl:Class HGNC:4389 biolink:NamedThing GNAO1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009892 biolink:NamedThing Chuvash polycythemia Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death. tmpaxzxjjyw_mondo_relaxed.owl polycythemia, Chuvash type|Chuvash polycythemia|VHL familial polycythemia|autosomal recessive benign erythrocytosis|erythrocytosis, familial, type 2|familial erythrocytosis 2|erythrocytosis, autosomal recessive benign|Chuvash erythromatosis|polycythemia, VHL-dependent|erythrocytosis, familial, 2|Chuvash erythrocytosis|familial polycythemia caused by mutation in VHL|Chuvash type polycythemia|ECYT2|Von Hippel-Lindau-dependent polycythemia DOID:0060474|OMIM:263400|Orphanet:238557|ICD10:D75.1|UMLS:C1837915|MESH:C563918 owl:Class MONDO:0009990 biolink:NamedThing Revesz syndrome Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications. tmpaxzxjjyw_mondo_relaxed.owl dyskeratosis congenita, autosomal dominant 5|Revesz syndrome|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|Revesz-DeBuse syndrome|exudative retinopathy with bone marrow failure|DKCA5 MESH:C538371|OMIM:268130|GARD:0004695|UMLS:C1327916|Orphanet:3088|DOID:0070026|NCIT:C152064|SCTID:723512008 https://rarediseases.info.nih.gov/diseases/4695/revesz-syndrome owl:Class HGNC:11824 biolink:NamedThing TINF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001516 biolink:NamedThing abdominal aorta tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011676 biolink:NamedThing PHACE syndrome PHACE is an acronym used to describe a syndrome characterised by the association of posterior fossa brain malformations, large facial haemangiomas, anatomical anomalies of the cerebral arteries, aortic coarctation and other cardiac anomalies, and eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery. tmpaxzxjjyw_mondo_relaxed.owl PHACE association|Phaces association|aortic aneurysm, giant congenital|pascual-Castroviejo syndrome type 2|P-CIIS|Posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities|pascual-Castroviejo type II syndrome GARD:0008338|MedDRA:10068032|UMLS:C1847874|Orphanet:42775|OMIM:606519|ICD10:Q28.8 owl:Class CL:0000962 biolink:NamedThing Bm2 B cell A follicular B cell that is IgD-positive and CD23-positive and CD38-positive. This naive cell type is activated in the extrafollicular areas via interaction with dendritic cells and antigen specific T cells. tmpaxzxjjyw_mondo_relaxed.owl Bm2 B-cell|Bm2 B-lymphocyte|Bm2 B lymphocyte These cells are also CD10-negative, CD39-positive, CD44-positive, CD71-negative, CD77-negative, IgM-positive, IgG-negative, IgA-negative, and IgE-negative. cell owl:Class MONDO:0003972 biolink:NamedThing gastric body carcinoma A carcinoma that arises from epithelial cells of the body of stomach. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of gastric body|cancer of the body of the stomach|cancer of body of stomach|carcinoma of the body of the stomach|gastric body cancer|body of stomach carcinoma|gastric body (stomach) cancer|cancer of gastric body|carcinoma of the gastric body|gastric body carcinoma|cancer of the gastric body|carcinoma of body of stomach NCIT:C8399|UMLS:C0345804|SCTID:254557000|DOID:6705 owl:Class NCBITaxon:263 biolink:NamedThing Francisella tularensis tmpaxzxjjyw_mondo_relaxed.owl Pasteurella tularensis|Brucella tularensis|Bacterium tularense|Francisella tularense GC_ID:11 ncbi_taxonomy owl:Class UBERON:0004937 biolink:NamedThing submucosa of pylorus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001770 biolink:NamedThing lacrimal canaliculus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010192 biolink:NamedThing Waardenburg syndrome type 4A A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB. tmpaxzxjjyw_mondo_relaxed.owl Waardenburg syndrome type IVA|Waardenburg syndrome caused by mutation in EDNRB|Shah-Waardenburg syndrome|Waardenburg syndrome type 4A|Waardenburg syndrome with Hirschsprung disease, type 4A|Waardenburg syndrome with Hirschsprung disease type 4A|Ws4|WS4A|Waardenburg syndrome, type 4A|EDNRB Waardenburg syndrome|Waardenburg-Shah syndrome DOID:0110953|Orphanet:897|OMIM:277580 owl:Class HGNC:3180 biolink:NamedThing EDNRB tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015280 biolink:NamedThing pancreas left lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008843 biolink:NamedThing gubernaculum testis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001461 biolink:NamedThing elbow tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009991 biolink:NamedThing response to extracellular stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an extracellular stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005359 biolink:NamedThing spinal cord ependyma tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11233 biolink:NamedThing SPAST tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:MFOMD_0000101 biolink:NamedThing delusion Erroneous beliefs that usually involve a misinterpretation of perceptions or experiences. (their content may include a variety of themes (e.g., persecutory, referential, somatic, religious, or grandiose). DSM-IV-TR (american Psychiatric Association) tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005006 biolink:NamedThing mucosa of renal pelvis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007846 biolink:NamedThing KBG syndrome KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. tmpaxzxjjyw_mondo_relaxed.owl macrodontia, intellectual disability, characteristic facies, short stature, and skeletal anomalies|short stature, characteristic facies, macrodontia, intellectual disability, and skeletal anomalies|short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies|short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|KBGS|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies|KBG syndrome DOID:14780|Orphanet:2332|ICD10:Q87.8|UMLS:C0220687|OMIM:148050|MESH:C537015|SCTID:711156009|ICD9:759.89|GARD:0000082 https://rarediseases.info.nih.gov/diseases/82/kbg-syndrome owl:Class HGNC:21316 biolink:NamedThing ANKRD11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000957 biolink:NamedThing lamina tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0002505 biolink:NamedThing nucleated A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010408 biolink:NamedThing syndactyly-telecanthus-anogenital and renal malformations syndrome This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. tmpaxzxjjyw_mondo_relaxed.owl toe syndactyly, telecanthus, and anogenital and renal malformations|Star syndrome|STAR|toe syndactyly, telecanthus, anogenital and renal malformations|syndactyly, telecanthus, anogenital and renal malformations|STAR syndrome|syndactyly with renal and anogenital malformations|syndactyly-telecanthus-anogenital and renal malformations syndrome ICD10:Q87.8|GARD:0010295|Orphanet:140952|MESH:C567475|UMLS:C2678045|OMIM:300707|SCTID:723581006 owl:Class HGNC:28434 biolink:NamedThing CCNQ tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003231 biolink:NamedThing Hypertyrosinemia An increased concentration of tyrosine in the blood. tmpaxzxjjyw_mondo_relaxed.owl Increased tyrosine in blood|Tyrosinemia UMLS:C1879362|SNOMEDCT_US:56595005 Defect in fumarylacetoacetase. human_phenotype owl:Class MONDO:0009866 biolink:NamedThing phosphoenolpyruvate carboxykinase deficiency, cytosolic PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2). tmpaxzxjjyw_mondo_relaxed.owl PEP carboxykinase deficiency|PEPCK 1 deficiency|PEPCK deficiency, cytosolic|PCKDC|PCK1 deficiency, cytosolic|phosphoenolpyruvate carboxykinase deficiency, cytosolic|phosphoenolpyruvate carboxykinase deficiency|phosphoenolpyruvate carboxylase deficiency|phosphopyruvate carboxylase deficiency|PEPCK1 deficiency|phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency Orphanet:2880|GARD:0004278|UMLS:C0268194|OMIM:261680|Orphanet:79316 owl:Class HGNC:8724 biolink:NamedThing PCK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11609 biolink:NamedThing TBXAS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013371 biolink:NamedThing dilated cardiomyopathy 1U Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN1 gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, type 1U|familial isolated dilated cardiomyopathy caused by mutation in PSEN1|dilated cardiomyopathy type 1U|cardiomyopathy, dilated, 1U|CMD1U|PSEN1 familial isolated dilated cardiomyopathy ICD10:I42.0|DOID:0110455|MESH:C566296|UMLS:C3160720|OMIM:613694|Orphanet:154 owl:Class GO:0000050 biolink:NamedThing urea cycle The sequence of reactions by which arginine is synthesized from ornithine, then cleaved to yield urea and regenerate ornithine. The overall reaction equation is NH3 + CO2 + aspartate + 3 ATP + 2 H2O = urea + fumarate + 2 ADP + 2 phosphate + AMP + diphosphate. tmpaxzxjjyw_mondo_relaxed.owl ornithine cycle|urea biosynthesis|urea biosynthetic process owl:Class CL:0000908 biolink:NamedThing CD8-positive, alpha-beta cytokine secreting effector T cell A CD8-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive, that secretes cytokines. tmpaxzxjjyw_mondo_relaxed.owl CD8-positive, alpha-beta cytokine secreting effector T lymphocyte|CD8-positive, alpha-beta cytokine secreting effector T-cell|CD8-positive, alpha-beta cytokine secreting effector T-lymphocyte cell owl:Class UBERON:0004942 biolink:NamedThing submucosa of left hepatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003071 biolink:NamedThing eye primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003297 biolink:NamedThing gallbladder leiomyoma A benign smooth muscle neoplasm arising from the gallbladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of the gallbladder|gall bladder leiomyoma|leiomyoma of gallbladder|leiomyoma of gall bladder|gallbladder leiomyoma DOID:5140|UMLS:C1333745|NCIT:C5747 owl:Class MONDO:0011313 biolink:NamedThing megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene. tmpaxzxjjyw_mondo_relaxed.owl megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1|megalencephaly, mega corpus callosum, and complete lack of motor development|PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|MPPH1|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1|Meg-PMG-Megacc syndrome|megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2|megalencephaly, polymicrogyria, mega corpus callosum syndrome Orphanet:83473|MESH:C566381|OMIM:603387 owl:Class HGNC:8980 biolink:NamedThing PIK3R2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000219 biolink:NamedThing anthropogenic terrestrial biome An anthropogenic terrestrial biome is a terrestrial biome which has community structures determined by human activity. tmpaxzxjjyw_mondo_relaxed.owl anthrome|human biome owl:Class MONDO:0011897 biolink:NamedThing leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome is characterised by ataxia, delayed dentition, hypomyelination and cerebral atrophy. So far, eight cases have been described. tmpaxzxjjyw_mondo_relaxed.owl leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome|hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|ataxia, delayed dentition, and hypomyelination|HLD7|hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism|hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome|dentoleukoencephalopathy|leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism|ataxia-delayed dentition-hypomyelination syndrome|tach syndrome|4H syndrome|ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy ICD10:G11.1|Orphanet:447896|ICD10:E75.2|Orphanet:88637|Orphanet:447893|DOID:0060794|Orphanet:77295|OMIM:607694|SCTID:721846006|Orphanet:137639 owl:Class HGNC:30074 biolink:NamedThing POLR3A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003563 biolink:NamedThing telencephalon dura mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000239 biolink:NamedThing adiaspiromycosis Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens). tmpaxzxjjyw_mondo_relaxed.owl adiaspiromycosis|haplosporangiosis|adiaspirosis|pulmonary adiaspiromycosis SCTID:23892008|DOID:0050072|MEDGEN:537148|ICD9:117.9|UMLS:C0259737 owl:Class MONDO:0010641 biolink:NamedThing X-linked diffuse leiomyomatosis-Alport syndrome The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families. tmpaxzxjjyw_mondo_relaxed.owl leiomyomatosis, diffuse, with Alport syndrome|DL-ATS|diffuse leiomyomatosis in Alport syndrome|leiomyomatosis, esophageal and vulval, with nephropathy|ATS-DL|chromosome Xq22.3 centromeric deletion syndrome|Xq22.3 microdeletion syndrome|Alport syndrome with diffuse leiomyomatosis|Alport syndrome and diffuse leiomyomatosis MESH:C537113|Orphanet:1018|OMIM:150700|ICD10:Q87.8|GARD:0002432|OMIM:308940 owl:Class UBERON:0001606 biolink:NamedThing muscle of iris tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002833 biolink:NamedThing fallopian tube transitional cell carcinoma A rare transitional cell carcinoma that arises from the fallopian tube. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube transitional cell cancer|fallopian tube transitional cell carcinoma NCIT:C40104|UMLS:C1517128|DOID:4008 owl:Class MONDO:0005448 biolink:NamedThing hepatitis C induced liver cirrhosis Liver injury resulting from hepatitis C infection. tmpaxzxjjyw_mondo_relaxed.owl EFO:0005129 owl:Class HGNC:678 biolink:NamedThing ARHGDIA tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018649 biolink:NamedThing cardiac muscle tissue of ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012851 biolink:NamedThing hypophosphatemic nephrolithiasis/osteoporosis 2 tmpaxzxjjyw_mondo_relaxed.owl NPHLOP2|nephrolithiasis/osteoporosis, hypophosphatemic, 2|nephrolithiasis/osteoporosis, hypophosphatemic, type 2|hypophosphatemic nephrolithiasis/osteoporosis type 2 Orphanet:244305|DOID:0080078|MESH:C567362|OMIM:612287|UMLS:C2676782 owl:Class UBERON:0014532 biolink:NamedThing white matter lamina of cerebral hemisphere tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013501 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 6 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene. tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in VCP|VCP amyotrophic lateral sclerosis|amyotrophic lateral sclerosis, with or without frontotemporal dementia Orphanet:803|UMLS:C3151403|DOID:0060205|OMIM:613954|Orphanet:275872 owl:Class HGNC:12666 biolink:NamedThing VCP tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:76803 biolink:NamedThing Arteriviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014815 biolink:NamedThing intellectual disability, autosomal recessive 52 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal recessive 52|intellectual disability, autosomal recessive type 52|LMAN2L autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L|mental retardation, autosomal recessive type 52|MRT52|mental retardation, autosomal recessive 52 UMLS:C4225168|OMIM:616887 owl:Class HGNC:1936 biolink:NamedThing CHIT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010167 biolink:NamedThing beard tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009690 biolink:NamedThing congenital myasthenic syndrome 10 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene. tmpaxzxjjyw_mondo_relaxed.owl myasthenia, limb-girdle, familial|congenital myasthenic syndrome type IB, formerly|CMS10|LGM|congenital myasthenic syndrome caused by mutation in DOK7|CMS Ib|myasthenic myopathy|CMS1B|myasthenic syndrome, congenital, 10|myasthenic syndrome, congenital, type 10|congenital myasthenic syndrome type IB|congenital myasthenic syndrome 10|congenital myasthenic syndrome type 10|Cms Ib|DOK7 congenital myasthenic syndrome|myasthenia, limb-girdle, familial, formerly|Cms Ib, formerly|myasthenic myopathy, formerly|familial limb-girdle myasthenia DOID:0110668|SCTID:230687001|Orphanet:98913|ICD9:358.00|Orphanet:590|OMIM:254300 owl:Class MONDO:0014254 biolink:NamedThing otofaciocervical syndrome 2 Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene. tmpaxzxjjyw_mondo_relaxed.owl otofaciocervical syndrome caused by mutation in PAX1|OTFCS2|otofaciocervical syndrome type 2|otofaciocervical syndrome 2|PAX1 otofaciocervical syndrome|OFC2 OMIM:615560|UMLS:C3714942|Orphanet:2792 owl:Class HGNC:8615 biolink:NamedThing PAX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0000499 biolink:NamedThing decreased duration A duration quality of a process which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl fast time|shortened period|low period|decreased time|decreased period owl:Class MONDO:0013537 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 29 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in CLDN14|CLDN14 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 29|autosomal recessive deafness 29|DFNB29|deafness, autosomal recessive 29|deafness, autosomal recessive type 29|autosomal recessive nonsyndromic deafness 29 DOID:0110487|UMLS:C3279660|Orphanet:90636|OMIM:614035|ICD10:H90.3 owl:Class HGNC:2035 biolink:NamedThing CLDN14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011118 biolink:NamedThing tarsometatarsal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002423 biolink:NamedThing hepatobiliary system tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:26677 biolink:NamedThing silicon molecular entity tmpaxzxjjyw_mondo_relaxed.owl silicon molecular entity|silicon compounds|silicon molecular entities owl:Class UBERON:0004367 biolink:NamedThing Descemet's membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11847 biolink:NamedThing TLR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010204 biolink:NamedThing tail vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007601 biolink:NamedThing visual perception The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. tmpaxzxjjyw_mondo_relaxed.owl vision|sensory visual perception|sense of sight owl:Class MONDO:0012138 biolink:NamedThing muscular dystrophy-dystroglycanopathy type B6 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6|MDC1D|congenital muscular dystrophy type 1D|muscular dystrophy, congenital, type 1D|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6|congenital muscular dystrophy large-related|muscular dystrophy, congenital, large-related|MDDGB6 Orphanet:98894|DOID:0110637|ICD10:G71.2|OMIM:608840|UMLS:C1837229|MESH:C563844|Orphanet:370968 owl:Class UBERON:0003510 biolink:NamedThing eyelid blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014731 biolink:NamedThing seizures-scoliosis-macrocephaly syndrome Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects. tmpaxzxjjyw_mondo_relaxed.owl SSM syndrome|seizures, scoliosis, and macrocephaly syndrome|SSMS OMIM:616682|Orphanet:466926|GARD:0009960|UMLS:C4225248 owl:Class HGNC:3513 biolink:NamedThing EXT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17944 biolink:NamedThing EXOSC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010371 biolink:NamedThing Aland island eye disease An X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. tmpaxzxjjyw_mondo_relaxed.owl Åland Islands eye disease|Aland island eye disease|Forsius-Eriksson syndrome|Forsius Eriksson type ocular albinism|FORSIUS-Eriksson type ocular albinism|AIED|Forsius-Eriksson type ocular albinism|ALAND ISLAND eye disease DOID:0050630|Orphanet:178333|OMIM:300600|MESH:C562664|UMLS:C0268505|SCTID:266455006|GARD:0010574|ICD10:H35.5 owl:Class MONDO:0054549 biolink:NamedThing peroxisome biogenesis disorder 10B tmpaxzxjjyw_mondo_relaxed.owl PBD10B|peroxisome biogenesis disorder 10B OMIM:617370 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class GO:0010673 biolink:NamedThing positive regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl up regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|stimulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|up-regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter, meiotic|upregulation of meiosis by positive regulation of transcription from RNA polymerase II promoter|activation of meiosis by positive regulation of transcription from RNA polymerase II promoter owl:Class MONDO:0009973 biolink:NamedThing reticular dysgenesis Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated. tmpaxzxjjyw_mondo_relaxed.owl severe combined immunodeficiency with leukopenia|AK2 deficiency|SCID with leukopenia|congenital Aleukia|DeVaal disease|RD|reticular dysgenesis|aleukocytosis|reticular Dysgenesia|generalized hematopoietic hypoplasia|hematopoietic hypoplasia, generalized|congenital aleukocytosis|De Vaal disease ICD10:D81.0|UMLS:C0272167|Orphanet:33355|DOID:0060020|SCTID:111584000|MESH:C538361|GARD:0008625|NCIT:C27070|OMIM:267500 https://rarediseases.info.nih.gov/diseases/8625/reticular-dysgenesis owl:Class MONDO:0010089 biolink:NamedThing isolated sulfite oxidase deficiency tmpaxzxjjyw_mondo_relaxed.owl sulfite oxidase deficiency, isolated|sulfite oxidase deficiency|ISOD|isolated sulfite oxidase deficiency|sulfocysteinuria|Sulfocysteinuria ICD10:E72.1|OMIM:272300|SCTID:367368009|Orphanet:99731|MESH:C538141|DOID:0111270|GARD:0005062|Orphanet:833 owl:Class HGNC:11460 biolink:NamedThing SUOX tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:26222 biolink:NamedThing FAR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002623 biolink:NamedThing pediatric osteosarcoma An osteosarcoma occurring in childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric osteosarcoma (disease)|osteosarcoma (disease) of childhood|childhood osteosarcoma|childhood osteosarcoma (disease)|pediatric osteosarcoma|childhood osteogenic sarcoma|osteosarcoma DOID:3361|UMLS:C1332986|NCIT:C6585 owl:Class GO:0016485 biolink:NamedThing protein processing Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. tmpaxzxjjyw_mondo_relaxed.owl protein maturation by proteolysis|protein maturation by peptide bond cleavage|peptidolysis during protein maturation|protein maturation by peptide bond hydrolysis owl:Class HGNC:29796 biolink:NamedThing LAMTOR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:41820 biolink:NamedThing Culicoides tmpaxzxjjyw_mondo_relaxed.owl Culicoides|punkies GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032618 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 13 tmpaxzxjjyw_mondo_relaxed.owl MC1DN13|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 OMIM:618235 owl:Class MONDO:0007094 biolink:NamedThing amelogenesis imperfecta type 1A Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene. tmpaxzxjjyw_mondo_relaxed.owl AI1A|local hypoplastic amelogenesis imperfecta|amelogenesis imperfecta, type 1A|amelogenesis imperfecta hypoplastic type IA|amelogenesis imperfecta type IA|amelogenesis imperfecta, hypoplastic type 1A|amelogenesis imperfecta, type IA|LAMB3 amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in LAMB3|amelogenesis imperfecta local hypoplastic OMIM:104530|MESH:C538240|DOID:0110054|Orphanet:100031|GARD:0000645|ICD10:K00.5|Orphanet:88661 Not in the OMIM series. https://rarediseases.info.nih.gov/diseases/645/amelogenesis-imperfecta-local-hypoplastic owl:Class HGNC:6490 biolink:NamedThing LAMB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034763 biolink:NamedThing hindbrain commissure tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:15646 biolink:NamedThing KLHL7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005089 biolink:NamedThing sweat gland placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000303 biolink:NamedThing endolithic environment An endolithic environment is an environment that exists within solid rock. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012405 biolink:NamedThing polyposis syndrome, hereditary mixed, 2 Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene. tmpaxzxjjyw_mondo_relaxed.owl HMPS2|BMPR1A hereditary mixed polyposis syndrome|hereditary mixed polyposis syndrome caused by mutation in BMPR1A|polyposis syndrome, hereditary mixed, 2|polyposis syndrome, hereditary mixed, type 2 OMIM:610069|Orphanet:157794|MESH:C566451|DOID:0111686|UMLS:C1864730 owl:Class CL:0002428 biolink:NamedThing double-positive blast A double-positive thymocyte that is large (i.e. has a high forward scatter signal in flow cytometry) and is actively proliferating. tmpaxzxjjyw_mondo_relaxed.owl T.DPb.Th|activated double-positive thymocyte tmeehan 2010-10-21T01:59:11Z cell owl:Class HP:0001609 biolink:NamedThing Hoarse voice Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. tmpaxzxjjyw_mondo_relaxed.owl Husky voice|Hoarse voice|Hoarseness SNOMEDCT_US:50219008|UMLS:C0019825|UMLS:C1854348|MSH:D006685 HP:0001619|HP:0001613 human_phenotype owl:Class GO:1905954 biolink:NamedThing positive regulation of lipid localization Any process that activates or increases the frequency, rate or extent of lipid localization. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of lipid localisation|up regulation of lipid localization|activation of lipid localization|upregulation of lipid localization|activation of lipid localisation|up regulation of lipid localisation|up-regulation of lipid localization|upregulation of lipid localisation|positive regulation of lipid localisation owl:Class MONDO:0000273 biolink:NamedThing Kunjin virus infectous disease tmpaxzxjjyw_mondo_relaxed.owl Kunjin encephalitis DOID:0050174 owl:Class NCBITaxon:162997 biolink:NamedThing Culex annulirostris tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020697 biolink:NamedThing lung epithelial-myoepithelial carcinoma A lung carcinoma arising within the bronchi or bronchial tubes. It is characterized by the presence of myoepithelial cells, spindle cells, clear cells, and duct-forming epithelial cells. Surgical resection may be curative. tmpaxzxjjyw_mondo_relaxed.owl lung epithelial-myoepithelial carcinoma|lung epithelial-myoepithelial cancer NCIT:C45545 owl:Class CL:0000413 biolink:NamedThing haploid cell A cell whose nucleus contains a single haploid genome. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class PATO:0001375 biolink:NamedThing haploid A ploidy quality inhering in a bearer by virtue of the bearer's containing a single set of homologous chromosomes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0090087 biolink:NamedThing regulation of peptide transport Any process that modulates the frequency, rate or extent of the directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015833 biolink:NamedThing peptide transport The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019233 biolink:NamedThing sensory perception of pain The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process. tmpaxzxjjyw_mondo_relaxed.owl nociception|perception of physiological pain owl:Class MONDO:0011727 biolink:NamedThing anorexia nervosa, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl anon|ANON1|anorexia nervosa, susceptibility to, 1|anorexia nervosa, susceptibility to|AN UMLS:CN244557|OMIM:606788 owl:Class MONDO:0005785 biolink:NamedThing henipavirus infectious disease Infections with viruses of the genus henipavirus, family paramyxoviridae. tmpaxzxjjyw_mondo_relaxed.owl Henipavirus infectious disease|Henipavirus disease or disorder|Henipavirus caused disease or disorder MESH:D045464|EFO:0007300 owl:Class CHEBI:28938 biolink:NamedThing ammonium An onium cation obtained by protonation of ammonia. tmpaxzxjjyw_mondo_relaxed.owl NH4(+)|Ammonium(1+)|ammonium cation|ammonium|ammonium ion|NH4+|[NH4](+)|azanium owl:Class UBERON:0005021 biolink:NamedThing mucosa of sphenoidal sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002445 biolink:NamedThing ulnare tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030224 biolink:NamedThing monocyte differentiation The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. tmpaxzxjjyw_mondo_relaxed.owl monocyte cell differentiation owl:Class UBERON:0007237 biolink:NamedThing 1st arch mandibular component tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002373 biolink:NamedThing Febrile seizure (within the age range of 3 months to 6 years) A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. tmpaxzxjjyw_mondo_relaxed.owl Febrile convulsion|Febrile seizures|Seizures, generalized, associated with fever|Seizures, febrile, in early childhood|Fever induced seizures UMLS:C0009952|SNOMEDCT_US:41497008|MSH:D003294 Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. HP:0002175|HP:0007102 human_phenotype owl:Class UBERON:0005047 biolink:NamedThing mucosa of vocal fold tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003706 biolink:NamedThing laryngeal vocal fold tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:32775 biolink:NamedThing D-tyrosinium An optically active form of tyrosinium having D-configuration. tmpaxzxjjyw_mondo_relaxed.owl D-tyrosinium|(1R)-1-carboxy-2-(4-hydroxyphenyl)ethanaminium|D-tyrosine cation owl:Class CL:0002602 biolink:NamedThing annulus pulposus cell tmpaxzxjjyw_mondo_relaxed.owl anulus pulposus cell tmeehan 2011-03-06T06:50:53Z cell owl:Class UBERON:0004715 biolink:NamedThing annulus fibrosus disci intervertebralis tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000017 biolink:NamedThing spermatocyte A male germ cell that develops from spermatogonia. The euploid primary spermatocytes undergo meiosis and give rise to the haploid secondary spermatocytes which in turn give rise to spermatids. tmpaxzxjjyw_mondo_relaxed.owl FBbt:00004936|WBbt:0006799|FMA:84049|CALOHA:TS-0951|BTO:0001275|EMAPA:31484 cell owl:Class GO:0048137 biolink:NamedThing spermatocyte division The meiotic divisions undergone by the primary and secondary spermatocytes to produce haploid spermatids. tmpaxzxjjyw_mondo_relaxed.owl spermatocyte cell division owl:Class MONDO:0045053 biolink:NamedThing osteogenic neoplasm A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma. tmpaxzxjjyw_mondo_relaxed.owl osseous neoplasm|osseous tumor|osteogenic neoplasm|osteogenic tumor NCIT:C6603 owl:Class HGNC:19344 biolink:NamedThing DENND5A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011587 biolink:NamedThing pre-dentine tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8896 biolink:NamedThing PGK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014124 biolink:NamedThing Adams-Oliver syndrome 4 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene. tmpaxzxjjyw_mondo_relaxed.owl Adams-Oliver syndrome 4|EOGT Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in EOGT|Adams-Oliver syndrome type 4|AOS4 Orphanet:974|OMIM:615297|UMLS:C3809092 owl:Class HGNC:28526 biolink:NamedThing EOGT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011134 biolink:NamedThing Curry-Jones syndrome Curry-Jones syndrome is a form of syndromic craniosynostosis, characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. tmpaxzxjjyw_mondo_relaxed.owl curry-Jones syndrome|corpus callosum agenesis-polysyndactyly syndrome|curry Jones syndrome|curry-JONES syndrome|corpus callosum agenesis polysyndactyly|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development|CRJS GARD:0005584|Orphanet:1553|ICD10:Q87.0|OMIM:601707|UMLS:C0795915|MESH:C536735|SCTID:720819006 https://rarediseases.info.nih.gov/diseases/5584/curry-jones-syndrome owl:Class HGNC:11119 biolink:NamedThing SMO tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010211 biolink:NamedThing xeroderma pigmentosum group C An autosomal recessive inherited disorder caused by mutations in the XPC gene. This disease is characterized by increased sensitivity to sunlight with the development of carcinomas at an early age and is caused by a defect in nucleotide excision repair. tmpaxzxjjyw_mondo_relaxed.owl XP group C|XP-C|xeroderma pigmentosum, type 3|xeroderma pigmentosum, complementation group type C|XP3|XP, Group C|XPC|xeroderma pigmentosum group C|xeroderma pigmentosum 3|xeroderma pigmentosum, complementation group C|xeroderma pigmentosum III|xeroderma pigmentosum group type C|XPCC GARD:0005626|ICD10:Q82.1|NCIT:C114770|SCTID:25784009|Orphanet:910|OMIM:278720|Orphanet:276255|DOID:0110844|UMLS:C2752147|MESH:C567886 owl:Class HGNC:12816 biolink:NamedThing XPC tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4195 biolink:NamedThing GCK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013457 biolink:NamedThing Leber congenital amaurosis 15 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the TULP1 gene. tmpaxzxjjyw_mondo_relaxed.owl Leber congenital amaurosis type 15|Leber congenital amaurosis 15|TULP1 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in TULP1|LCA15|retinitis pigmentosa, juvenile, Tulp1-related DOID:0110189|OMIM:613843|UMLS:C3151206|GARD:0010884|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10884/leber-congenital-amaurosis-15 owl:Class MONDO:0006685 biolink:NamedThing brain hypoxia - ischemia A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ischemia) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ischemic attack, transient; brain infarction; brain edema; coma; and other conditions. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000846|MESH:D020925 owl:Class UBERON:0001491 biolink:NamedThing wrist joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017178 biolink:NamedThing osteochondritis dissecans A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. tmpaxzxjjyw_mondo_relaxed.owl osteochondritis dissecans (disease)|osteochondritis DISSECANS, short stature, and early-onset osteoarthritis|familial osteochondritis dissecans|SSOAOD|Konig disease|Koenig disease|OD|osteochondritis dissecans and short stature|osteochondritis dissecans|König disease|OCD|short stature and advanced bone Age, with or without early-onset osteoarthritis and/Or osteochondritis Dissecans osteochondritis dissecans (disease) MESH:D010008|GARD:0012703|ICD10:M93.9|GARD:0004133|OMIM:165800|ICD9:732.7|HP:0010886|Orphanet:251262|NCIT:C34878|DOID:84|Orphanet:2764|SCTID:82562007|MedDRA:10031231|UMLS:C0029421|ICD10:M93.2 owl:Class MONDO:0012614 biolink:NamedThing intellectual disability, autosomal recessive 6 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2|MRT6|mental retardation, autosomal recessive type 6|intellectual disability, autosomal recessive 6|intellectual disability, autosomal recessive type 6|GRIK2 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 6 MESH:C567017|UMLS:C1970198|OMIM:611092 owl:Class MONDO:0009326 biolink:NamedThing congenital heart block Heart block that occurs on or before 28 days of life. tmpaxzxjjyw_mondo_relaxed.owl congenital atrioventricular block|heart block, congenital UMLS:C0149530|SCTID:46619002|DOID:990|GARD:0006164|ICD10:Q24.6|MedDRA:10019263|ICD9:746.86|MESH:C535758|Orphanet:60041|OMIM:234700 https://rarediseases.info.nih.gov/diseases/6164/congenital-heart-block owl:Class HP:0002105 biolink:NamedThing Hemoptysis Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. tmpaxzxjjyw_mondo_relaxed.owl Coughing up blood or blood-stained mucus|Haemoptysis|Coughing up blood SNOMEDCT_US:6686005|SNOMEDCT_US:66857006|UMLS:C0019079|MSH:D006469 human_phenotype owl:Class MONDO:0014465 biolink:NamedThing primary ciliary dyskinesia 30 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene. tmpaxzxjjyw_mondo_relaxed.owl CILD30|ciliary dyskinesia, primary, 30|primary ciliary dyskinesia 30 without situs inversus|primary ciliary dyskinesia type 30|ciliary dyskinesia, primary, type 30|ciliary dyskinesia, primary, 30, with or without situs inversus|CCDC151 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in CCDC151 UMLS:C4015016|Orphanet:244|OMIM:616037|ICD10:Q34.8|DOID:0110624 owl:Class HGNC:28303 biolink:NamedThing ODAD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002497 biolink:NamedThing acromion tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013191 biolink:NamedThing ovarian cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006960 biolink:NamedThing ovary stroma tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004327 biolink:NamedThing middle phalanx of pedal digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000657 biolink:NamedThing Oculomotor apraxia Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. tmpaxzxjjyw_mondo_relaxed.owl Defective or absent horizontal voluntary eye movements|Ocular motor apraxia SNOMEDCT_US:193662007|MSH:C537423|UMLS:C4020886|UMLS:C3489733 Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. HP:0007764|HP:0000628 human_phenotype owl:Class HGNC:28908 biolink:NamedThing DNAJC12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0700029 biolink:NamedThing partial duplication of chromosome 13 tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:26444 biolink:NamedThing UROC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014202 biolink:NamedThing primary ciliary dyskinesia 24 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH1 gene. tmpaxzxjjyw_mondo_relaxed.owl RSPH1 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 24|ciliary dyskinesia, primary, 24, without situs inversus|primary ciliary dyskinesia 24|primary ciliary dyskinesia caused by mutation in RSPH1|ciliary dyskinesia, primary, 24|primary ciliary dyskinesia type 24|primary ciliary dyskinesia 24 without situs inversus|CILD24 ICD10:Q34.8|UMLS:C3809634|OMIM:615481|DOID:0110628 owl:Class HGNC:12371 biolink:NamedThing RSPH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001253 biolink:NamedThing lamina propria of ureter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004980 biolink:NamedThing mucosa of ureter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001754 biolink:NamedThing dental pulp tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009669 biolink:NamedThing spinal muscular atrophy, type 1 A severe infantile form of proximal spinal muscular atrophy characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpaxzxjjyw_mondo_relaxed.owl SMA 1|SMA1|Werdnig Hoffmann disease|proximal spinal muscular atrophy type 1|HMN (hereditary motor neuropathy) proximal type I|SMA, infantile acute form|SMA type 1|Werdnig-Hoffman disease|progressive muscular atrophy of infancy|infantile muscular atrophy|spinal muscular atrophies of childhood|proximal spinal muscular atrophy, type 1|muscular atrophy, infantile|hereditary motor neuropathy proximal type I|spinal muscular atrophy 1|infantile spinal muscular atrophy|survival motor neuron spinal muscular atrophy|severe infantile spinal muscular atrophy|Werdnig-Hoffmann disease|SMA-I|SMA type I|spinal muscular atrophy, type I OMIM:253300|NCIT:C98670|Orphanet:70|DOID:13137|GARD:0007883|UMLS:C0152109|Orphanet:83330|ICD10:G12.0|DOID:0060160|SCTID:54280009|SCTID:64383006|SCTID:128212001|UMLS:C0700595|ICD9:335.0|ICD9:335.11|NCIT:C118847 owl:Class HGNC:11117 biolink:NamedThing SMN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1482 biolink:NamedThing CAPN5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070253 biolink:NamedThing somatostatin secretion The regulated release of somatostatin from secretory granules in the D cells of the pancreas. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005326 biolink:NamedThing mesonephric glomerulus vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005213 biolink:NamedThing outer renal medulla interstitium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013431 biolink:NamedThing Meier-Gorlin syndrome 4 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene. tmpaxzxjjyw_mondo_relaxed.owl Meier-Gorlin syndrome caused by mutation in CDT1|Meier-GORLIN syndrome 4|CDT1 Meier-Gorlin syndrome|MGORS4|Meier-Gorlin syndrome type 4|Meier-Gorlin syndrome 4 OMIM:613804|DOID:0080515|UMLS:C3151120|Orphanet:2554 owl:Class HGNC:24576 biolink:NamedThing CDT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045581 biolink:NamedThing negative regulation of T cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of T cell differentiation|inhibition of T cell differentiation|negative regulation of T-lymphocyte differentiation|down-regulation of T cell differentiation|down regulation of T cell differentiation|negative regulation of T cell development|negative regulation of T lymphocyte differentiation|negative regulation of T-cell differentiation owl:Class UBERON:0001499 biolink:NamedThing muscle of arm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014555 biolink:NamedThing peeling skin syndrome type A Peeling skin syndrome (PSS) type A is a non inflammatory form of generalized PSS, a type of ichthyosis, characterized by generalized white scaling and superficial painless peeling of the skin. tmpaxzxjjyw_mondo_relaxed.owl generalized deciduous skin type A|non-inflammatory peeling skin syndrome type A|peeling skin syndrome 3|generalized peeling skin syndrome type A|non-inflammatory generalized peeling skin syndrome type A.|PSS3|PSS type A|peeling skin syndrome type 3 Orphanet:263543|UMLS:C4015729|OMIM:616265|Orphanet:263548|ICD10:Q80.8 owl:Class HGNC:15993 biolink:NamedThing CHST8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011968 biolink:NamedThing radio-carpal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009880 biolink:NamedThing carpal skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr16 biolink:NamedThing chromosome 16 (Human) tmpaxzxjjyw_mondo_relaxed.owl 16 90338345 0 hg38 owl:Class CL:1000482 biolink:NamedThing myocardial endocrine cell of interventricular septum A myocardial endocrine cell that is part of the interventricular septum. tmpaxzxjjyw_mondo_relaxed.owl FMA:83390 cell owl:Class HP:0002023 biolink:NamedThing Anal atresia Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. tmpaxzxjjyw_mondo_relaxed.owl Imperforate anus|Absent anus SNOMEDCT_US:204731006|SNOMEDCT_US:204712000|MSH:D001006|Fyler:4402|MEDDRA:10002120|UMLS:C0003466|Fyler:4443 HP:0001550 human_phenotype owl:Class UBERON:0003299 biolink:NamedThing roof plate of midbrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1001589 biolink:NamedThing duodenum glandular cell Glandular cell of duodenal epithelium. Example: Enterocytes, Goblet cells, enteroendocrine cells; Paneth cells; M cells; Brunner's gland cell. tmpaxzxjjyw_mondo_relaxed.owl duodenum glandular cells CALOHA:TS-1275 owl:Class GO:0008544 biolink:NamedThing epidermis development The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. tmpaxzxjjyw_mondo_relaxed.owl hypodermis development owl:Class UBERON:0004487 biolink:NamedThing musculature of forelimb zeugopod tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013946 biolink:NamedThing hypogonadotropic hypogonadism 15 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene. tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropic hypogonadism caused by mutation in HS6ST1|HS6ST1 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 15 with or without anosmia|HH15 Orphanet:478|ICD10:23.0|DOID:0090075|OMIM:614880|UMLS:C3553977 owl:Class HGNC:5201 biolink:NamedThing HS6ST1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0040728 biolink:NamedThing Campylobacter fetus infectious disease tmpaxzxjjyw_mondo_relaxed.owl infection caused by vibrio fetus|infection by vibrio fetus|infection by Campylobacter fetus|infection caused by Campylobacter fetus UMLS:C0275979|SCTID:111835002 owl:Class NCBITaxon:196 biolink:NamedThing Campylobacter fetus tmpaxzxjjyw_mondo_relaxed.owl Spirillum fetus|Vibrio fetus GC_ID:11|PMID:11321120|PMID:1354478 ncbi_taxonomy owl:Class MONDO:0005845 biolink:NamedThing meningoencephalitis Inflammation of the meninges and brain, generally secondary to an infectious cause. Pathogens may be bacterial, viral, fungal, or protozoan. tmpaxzxjjyw_mondo_relaxed.owl MESH:D008590|NCIT:C34813|ICD10:A69.22|UMLS:C0025309|ICD10:G04|SCTID:7125002|EFO:0007364|DOID:10554 owl:Class MONDO:0023528 biolink:NamedThing KSHV inflammatory cytokine syndrome A syndrome caused by Kaposi sarcoma-associated herpesvirus (KSHV) infection. It manifests with fever, weight loss, and fluid retention in the legs or abdomen. Patients are at risk of developing KSHV-related cancers including Kaposi sarcoma and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl KICS|KSHV inflammatory cytokine syndrome|Kaposi-sarcoma associated Herpesvirus (KSHV) inflammatory cytokine syndrome GARD:0010827|NCIT:C125711|UMLS:C4086533 https://rarediseases.info.nih.gov/diseases/10827/kshv-inflammatory-cytokine-syndrome owl:Class UBERON:0000154 biolink:NamedThing posterior region of body tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006076 biolink:NamedThing adrenal gland neuroblastoma A neuroblastoma arising from the adrenal gland. tmpaxzxjjyw_mondo_relaxed.owl neuroblastoma of adrenal|neuroblastoma of the adrenal gland|adrenal gland neuroblastoma|adrenal neuroblastoma|neuroblastoma of the adrenal|neuroblastoma of adrenal gland NCIT:C4827|DOID:5718|UMLS:C0559460|SCTID:281562007|EFO:1000075 owl:Class CL:0002549 biolink:NamedThing fibroblast of choroid plexus A fibroblast that is part of the choroid plexus. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-02-28T05:01:39Z cell owl:Class GO:0030421 biolink:NamedThing defecation The expulsion of feces from the rectum. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019846 biolink:NamedThing acquired central diabetes insipidus Acquired central diabetes insipidus (acquired CDI) is a subtype of central diabetes insipidus (CDI), characterized by polyuria and polydipsia, due to an idiopathic or secondary decrease in vasopressin (AVP) production. tmpaxzxjjyw_mondo_relaxed.owl acquired CDI|acquired neurogenic diabetes insipidus|acquired central diabetes insipidus Orphanet:95626|ICD10:E23.2 owl:Class GO:0005183 biolink:NamedThing gonadotropin hormone-releasing hormone activity The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary. tmpaxzxjjyw_mondo_relaxed.owl LH/FSH-RF|LHRH activity|luteinizing hormone-releasing hormone activity|gonadotrophin hormone-releasing hormone activity|luteinizing hormone/follicle-stimulating hormone releasing factor activity|GnRH activity|luteinizing hormone-releasing factor activity owl:Class GO:1905154 biolink:NamedThing negative regulation of membrane invagination Any process that stops, prevents or reduces the frequency, rate or extent of membrane invagination. tmpaxzxjjyw_mondo_relaxed.owl downregulation of membrane invagination|inhibition of membrane invagination|down-regulation of membrane invagination|down regulation of membrane invagination owl:Class MONDO:0002761 biolink:NamedThing cervical verrucous carcinoma A highly differentiated variant of cervical squamous cell carcinoma characterized by the presence of a warty surface and stromal invasion with pushing borders. The malignant cells have abundant cytoplasm and minimal nuclear atypia. Koilocytosis is not present. tmpaxzxjjyw_mondo_relaxed.owl cervical verrucous carcinoma|uterine cervix verrucous carcinoma UMLS:C1516435|NCIT:C40190|DOID:3743 owl:Class MONDO:0007308 biolink:NamedThing Charcot-Marie-Tooth disease type 2A1 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor. tmpaxzxjjyw_mondo_relaxed.owl HMSN IIA1|HMSN2A1|hereditary motor and sensory neuropathy IIa1|Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B|hereditary motor and sensory neuropathy 2 A|Charcot-Marie-Tooth disease type 2A|autosomal dominant Charcot-Marie-Tooth disease type 2A1|HMSN IIA|Charcot-Marie-Tooth disease type 2A1|KIF1B Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, type 2A1|hereditary motor and sensory neuropathy IIA1|HMSN IIa1|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1|Charcot Marie Tooth disease type 2A|CMT2A1|Charcot-Marie-Tooth disease neuronal type 2A1|autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1|Charcot-Marie-Tooth disease, neuronal, type 2A1|CMT2A|CMT 2A|Charcot-Marie-Tooth neuropathy type 2A1|Charcot-Marie-Tooth disease, axonal, type 2A|Charcot-Marie-Tooth neuropathy, type 2A1|Charcot-Marie-Tooth disease, neuronal, type 2A ICD10:G60.0|MESH:C566138|Orphanet:99946|OMIM:118210|NCIT:C134952|DOID:0110154|SCTID:717016001|GARD:0001248 https://rarediseases.info.nih.gov/diseases/1248/charcot-marie-tooth-disease-type-2a owl:Class HGNC:16636 biolink:NamedThing KIF1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014397 biolink:NamedThing combined oxidative phosphorylation defect type 20 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the VARS2 gene. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency caused by mutation in VARS2|combined oxidative phosphorylation deficiency 20|VARS2 combined oxidative phosphorylation deficiency|COXPD20|combined oxidative phosphorylation deficiency type 20 UMLS:C4014660|OMIM:615917|Orphanet:420728|ICD10:G31.8|DOID:0111478 owl:Class HGNC:21642 biolink:NamedThing VARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006195 biolink:NamedThing endometrial polyp A benign nodular lesion protruding above the surface of the endometrium. It is composed of a fibrous stroma that contains thick-walled blood vessels and dilated endometrial glands. Polypectomy is the treatment of choice. Only few cases with recurrence have been reported. tmpaxzxjjyw_mondo_relaxed.owl endometrial stromal polyp|endometrial polyp|polyp of the endometrium|polyp of endometrium|endometrium polyp|polyp, endometrial stromal, benign NCIT:C6433|EFO:1000237 owl:Class MONDO:0013677 biolink:NamedThing Emery-Dreifuss muscular dystrophy 7, autosomal dominant Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene. tmpaxzxjjyw_mondo_relaxed.owl EDMD7|TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy|Emery-Dreifuss muscular dystrophy 7, autosomal dominant|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43|EMERY-Dreifuss muscular dystrophy 7, autosomal dominant DOID:0070252|UMLS:C3553060|Orphanet:261|OMIM:614302|Orphanet:98853 owl:Class MONDO:0014799 biolink:NamedThing cataract 45 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene. tmpaxzxjjyw_mondo_relaxed.owl CTRCT45|early-onset non-syndromic cataract caused by mutation in SIPA1L3|cataract 45|SIPA1L3 early-onset non-syndromic cataract|cataract type 45 UMLS:C4225182|ICD10:Q12.0|OMIM:616851|DOID:0110262 owl:Class MONDO:0011162 biolink:NamedThing cataract 14 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the GJA3 gene. tmpaxzxjjyw_mondo_relaxed.owl zonular pulverulent cataract 3|CAE3|CZP3|cataract, zonular pulverulent 3|GJA3 early-onset non-syndromic cataract|cataract 14, multiple types|early-onset non-syndromic cataract caused by mutation in GJA3|CTRCT14|Cae3 ICD10:Q12.0|Orphanet:98993|UMLS:C1866078|OMIM:601885|DOID:0110253|Orphanet:98991|Orphanet:98984|Orphanet:91492|MESH:C566608 owl:Class HGNC:4277 biolink:NamedThing GJA3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1001595 biolink:NamedThing rectum glandular cell Glandular cell of rectal epithelium. Example: Goblet cell; enterocytes or absorptive cells; enteroendocrine and M cells. tmpaxzxjjyw_mondo_relaxed.owl rectum glandular cells|rectal glandular cell CALOHA:TS-1281 owl:Class MONDO:0015011 biolink:NamedThing optic atrophy 11 Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene. tmpaxzxjjyw_mondo_relaxed.owl OPA11|optic atrophy 11|YME1L1 autosomal recessive isolated optic atrophy|optic atrophy type 11|autosomal recessive isolated optic atrophy caused by mutation in YME1L1 DOID:0111436|UMLS:C4310628|UMLS:CN230145|OMIM:617302 owl:Class HGNC:12843 biolink:NamedThing YME1L1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020088 biolink:NamedThing familial partial lipodystrophy Familial partial lipodystrophy (FPLD) is a group of rare genetic lipodystrophic syndromes characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis. tmpaxzxjjyw_mondo_relaxed.owl genetic partial lipodystrophy|FPLD|Koberling-Dunnigan syndrome|lipodystrophy, familial partial|congenital partial lipodystrophy Orphanet:98306|OMIM:151660|MESH:D052496|OMIM:615238|OMIMPS:151660|OMIM:604367|SCTID:49292002|OMIM:608600|DOID:0050440|NCIT:C84708|GARD:0011962|UMLS:C0271694|ICD10:E88.1|OMIM:613877 owl:Class ENVO:01001088 biolink:NamedThing aerosolised liquids An aerosol which has non-gaseous parts that are primarily composed of liquid droplets. tmpaxzxjjyw_mondo_relaxed.owl liquid aerosol owl:Class N4d8f70673c8e499a86ea3713e35ac1f3 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0007147 biolink:NamedThing female meiosis II The cell cycle process in which the second meiotic division occurs in the female germline. tmpaxzxjjyw_mondo_relaxed.owl female meiosis II nuclear division owl:Class MONDO:0017673 biolink:NamedThing isolated focal palmoplantar keratoderma A focal palmoplantar keratoderma that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl isolated focal PPK|isolated focal keratosis palmoplantaris|nonsyndromic focal palmoplantar keratoderma|isolated focal palmoplantar hyperkeratosis ICD10:Q82.8|Orphanet:307846 owl:Class UBERON:0001308 biolink:NamedThing external iliac artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013497 biolink:NamedThing Okt4 epitope deficiency tmpaxzxjjyw_mondo_relaxed.owl T4 epitope deficiency|Okt4 epitope deficiency OMIM:613949|UMLS:C3151379 owl:Class HGNC:11922 biolink:NamedThing CD27 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004813 biolink:NamedThing seminiferous tubule epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012205 biolink:NamedThing autosomal dominant striatal neurodegeneration type 1 Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia. tmpaxzxjjyw_mondo_relaxed.owl striatal degeneration, autosomal dominant|striatal degeneration, autosomal dominant 1|striatal degeneration, autosomal dominant caused by mutation in PDE8B|PDE8B striatal degeneration, autosomal dominant|ADSD1|ADSD|autosomal dominant striatal neurodegeneration|striatal Degeneration, autosomal dominant 1 OMIM:609161|SCTID:725392005 owl:Class HGNC:8794 biolink:NamedThing PDE8B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012347 biolink:NamedThing hamartoma, Precalcaneal congenital fibrolipomatous tmpaxzxjjyw_mondo_relaxed.owl hamartoma, Precalcaneal congenital fibrolipomatous|Pcfh UMLS:C1853298|OMIM:609808|MESH:C565226 owl:Class UBERON:0009644 biolink:NamedThing trachea non-cartilage connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017584 biolink:NamedThing Sagliker syndrome A rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face tmpaxzxjjyw_mondo_relaxed.owl Orphanet:300493|UMLS:CN203388 owl:Class MONDO:0006964 biolink:NamedThing secondary hyperparathyroidism Overproduction of parathyroid hormone in response to influence external to the parathyroid glands. tmpaxzxjjyw_mondo_relaxed.owl secondary hyperparathyroidism (disease)|secondary hyperparathyroidism NOS|secondary hyperparathyroidism secondary hyperparathyroidism (disease) DOID:12466|EFO:1001173|UMLS:C0020503|HP:0000867|NCIT:C113335|MESH:D006962|MedDRA:10020708|SCTID:91478007 owl:Class MONDO:0008399 biolink:NamedThing sarcoidosis, susceptibility to, 1 Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene. tmpaxzxjjyw_mondo_relaxed.owl Boeck sarcoid|sarcoidosis|SS1|sarcoidosis caused by mutation in HLA-DRB1|sarcoidosis, susceptibility to, type 1|sarcoidosis, susceptibility to, 1|susceptibility to sarcoidosis 1|HLA-DRB1 sarcoidosis Orphanet:797|ICD9:135|OMIM:181000 owl:Class HGNC:4948 biolink:NamedThing HLA-DRB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011820 biolink:NamedThing atrioventricular region tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0007009 biolink:NamedThing prechondroblast Skeletogenic cell that has the potential to develop into a chondroblast; and arises from neural crest, meseosdermal and notochordal and connective tissue cells. tmpaxzxjjyw_mondo_relaxed.owl haendel 2012-06-27T10:44:01Z cell owl:Class MONDO:0013139 biolink:NamedThing neutropenia, severe congenital, 2, autosomal dominant Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene. tmpaxzxjjyw_mondo_relaxed.owl SCN2|GFI1 autosomal dominant severe congenital neutropenia|autosomal dominant severe congenital neutropenia caused by mutation in GFI1|neutropenia, severe congenital, 2, autosomal dominant Orphanet:486|OMIM:613107|MESH:C567748|UMLS:C2751288 owl:Class HGNC:4237 biolink:NamedThing GFI1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008319 biolink:NamedThing protoporphyria, erythropoietic, 1 Erythropoietic protoporphyria caused by a compound heterozygous or homozygous mutation in the gene encoding ferrochelatase (FECH) on chromosome 18q21. tmpaxzxjjyw_mondo_relaxed.owl protoporphyria, erythropoietic|heme synthetase deficiency|ferrochelatase deficiency|EPP|erythropoietic protoporphyria|Erythrohepatic protoporphyria|protoporphyria, erythropoietic, 1|EPP1 Orphanet:79278|OMIM:177000|GARD:0004527|NCIT:C84698 owl:Class HGNC:3647 biolink:NamedThing FECH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013854 biolink:NamedThing primary ciliary dyskinesia 17 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene. tmpaxzxjjyw_mondo_relaxed.owl CILD17|ciliary dyskinesia, primary, 17|primary ciliary dyskinesia 17|primary ciliary dyskinesia caused by mutation in CCDC103|ciliary dyskinesia, primary, 17, with or without situs inversus|CCDC103 primary ciliary dyskinesia|primary ciliary dyskinesia 17 with or without situs inversus|ciliary dyskinesia, primary, type 17|primary ciliary dyskinesia type 17 UMLS:C3542550|DOID:0110621|OMIM:614679|ICD10:Q34.8 owl:Class HGNC:11359 biolink:NamedThing STAR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005425 biolink:NamedThing podoconiosis A disease of the lymphatic vessels of the lower extremities that is caused by chronic exposure to irritant soils. tmpaxzxjjyw_mondo_relaxed.owl soil elephantiasis|non-filarial elephantiasis|nonfilarial elephantiasis|elephantiasis from soil DOID:0050138|EFO:0004712|ICD9:457.1|SCTID:47595008 owl:Class MONDO:0014137 biolink:NamedThing precocious puberty, central, 2 Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene. tmpaxzxjjyw_mondo_relaxed.owl central precocious puberty caused by mutation in MKRN3|precocious puberty, central, type 2|MKRN3 central precocious puberty|precocious puberty, central, 2|CPPB2 OMIM:615346|UMLS:C3809199|Orphanet:759 owl:Class MONDO:0016216 biolink:NamedThing adult hepatocellular carcinoma Adult hepatocellular carcinoma is the most common primary liver cancer of adulthood. Derived from well-differentiated hepatocytes, it often develops from chronic liver cirrhosis which is most often due to hepatitis B and C virus or alcohol abuse. Symptoms are hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure. tmpaxzxjjyw_mondo_relaxed.owl adult primary liver cell carcinoma|adult primary carcinoma of liver cell|adult HCC|adult primary carcinoma of the liver cell|hepatocellular carcinoma of adults|adult primary hepatoma|adult hepatoma|adult primary hepatocellular carcinoma|adult hepatocellular carcinoma|hepatocellular cancer ICD10:C22.0|UMLS:CN200978|NCIT:C7956|DOID:0070328|UMLS:C0279607|Orphanet:210159 owl:Class MONDO:0014585 biolink:NamedThing congenital myasthenic syndrome 3C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37. tmpaxzxjjyw_mondo_relaxed.owl congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 3C|CMS3C|myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency OMIM:616323|UMLS:C4225370|DOID:0110664|Orphanet:98913|Orphanet:590 owl:Class GO:0002456 biolink:NamedThing T cell mediated immunity Any process involved in the carrying out of an immune response by a T cell. tmpaxzxjjyw_mondo_relaxed.owl T-cell mediated immunity|cellular immune response|T-lymphocyte mediated immunity|cell-mediated immunity|T lymphocyte mediated immunity owl:Class MONDO:0009189 biolink:NamedThing multiple epiphyseal dysplasia type 4 Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum. tmpaxzxjjyw_mondo_relaxed.owl epiphyseal dysplasia, multiple, type 4|autosomal recessive multiple epiphyseal dysplasia|EDM4|multiple epiphyseal dysplasia with double-layered patella|MED4|epiphyseal dysplasia, multiple, 4|epiphyseal dysplasia multiple 4|multiple epiphyseal dysplasia 4|SLC26A2 multiple epiphyseal dysplasia (disease)|Polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with clubfoot|multiple epiphyseal dysplasia (disease) caused by mutation in SLC26A2|rMED|multiple epiphyseal dysplasia with Bilayered patellae|multiple epiphyseal dysplasia, autosomal recessive OMIM:226900|MESH:C535504|UMLS:C1847593|DOID:0070300|GARD:0009793|ICD10:Q77.3|SCTID:715672007|Orphanet:93307 owl:Class GO:0002653 biolink:NamedThing negative regulation of tolerance induction dependent upon immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction dependent upon immune response. tmpaxzxjjyw_mondo_relaxed.owl downregulation of tolerance induction dependent upon immune response|down regulation of tolerance induction dependent upon immune response|down-regulation of tolerance induction dependent upon immune response|negative regulation of immune response-dependent tolerance induction|inhibition of tolerance induction dependent upon immune response owl:Class GO:0008301 biolink:NamedThing DNA binding, bending The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. tmpaxzxjjyw_mondo_relaxed.owl DNA bending involving DNA binding|DNA bending activity owl:Class MONDO:0011272 biolink:NamedThing retinitis pigmentosa 25 Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 25|RP 25|RP25|retinitis pigmentosa 25|retinitis pigmentosa caused by mutation in EYS|EYS retinitis pigmentosa GARD:0010384|OMIM:602772|UMLS:C1864446|DOID:0110384|MESH:C566425|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10384/retinitis-pigmentosa-25 owl:Class HGNC:21555 biolink:NamedThing EYS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019378 biolink:NamedThing la Crosse encephalitis La Crosse encephalitis (CE) is an acute arboviral infection caused by the La Crosse bunyavirus transmitted by an infected mosquito, usually observed in infants, children or adolescents (6 months to 16 years), and characterized by the onset of flulike symptoms such as fever, chills, nausea, vomiting, headache, and abdominal pain, followed by the onset of encephalitis characterized by somnolence, obtundation, and even seizures, focal neurologic signs (asymmetrical reflexes or Babinski signs), paralysis or even coma. CE can leave sequelae such as residual epilepsy and neurocognitive deficits. tmpaxzxjjyw_mondo_relaxed.owl California encephalitis|La Crosse virus infectious encephalitis|Neuroinvasive California encephalitis virus infection|La Crosse virus caused infectious encephalitis|California virus encephalitis|Californian encephalitis UMLS:C0014053|MedDRA:10014584|MESH:D004670|ICD10:A83.5|GARD:0010925|SCTID:61094002|Orphanet:83483|ICD9:062.5|UMLS:C0276379|DOID:0050118 owl:Class NCBITaxon:11577 biolink:NamedThing La Crosse virus tmpaxzxjjyw_mondo_relaxed.owl Bunyavirus la crosse GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012538 biolink:NamedThing nemaline myopathy 7 Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene. tmpaxzxjjyw_mondo_relaxed.owl nemaline myopathy type 7|nemaline myopathy 7|NEM7|nemaline myopathy caused by mutation in CFL2|CFL2 nemaline myopathy|nemaline myopathy 7, autosomal recessive OMIM:610687|Orphanet:607|UMLS:C1853154|MESH:C565198|DOID:0110934 owl:Class HGNC:1875 biolink:NamedThing CFL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12559 biolink:NamedThing UMOD tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:24862 biolink:NamedThing MOGS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002343 biolink:NamedThing splenic hemangioma A hemangioma arising from the spleen. tmpaxzxjjyw_mondo_relaxed.owl angioma of spleen|hemangioma of the spleen|spleen angioma|hemangioma of spleen|spleen hemangioma|angioma of the spleen|splenic angioma|splenic hemangioma UMLS:C0685201|SCTID:93472004|NCIT:C8541|DOID:256 owl:Class CHEBI:58958 biolink:NamedThing organosulfate oxoanion An organic anion of general formula RS(=O)2O(-) where R is an organyl group. tmpaxzxjjyw_mondo_relaxed.owl organosulfate oxoanions owl:Class CHEBI:25704 biolink:NamedThing organic sulfate Compounds of the general formula SO3HOR where R is an organyl group tmpaxzxjjyw_mondo_relaxed.owl organic sulfates owl:Class UBERON:0001494 biolink:NamedThing ulnar nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004065 biolink:NamedThing intermediate cell type choroid melanoma Choroid melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. tmpaxzxjjyw_mondo_relaxed.owl optic choroid intermediate cell type uveal melanoma|Intermediate cell type choroid melanoma|intermediate cell type uveal melanoma of optic choroid|mixed cell melanoma of choroid UMLS:C1334208|NCIT:C6100|DOID:6996 owl:Class UBERON:0034723 biolink:NamedThing fin taste bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012478 biolink:NamedThing cloacal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013465 biolink:NamedThing achromatopsia 4 Any achromatopsia in which the cause of the disease is a mutation in the GNAT2 gene. tmpaxzxjjyw_mondo_relaxed.owl achromatopsia 4|ACHM4|achromatopsia caused by mutation in GNAT2|GNAT2 achromatopsia|achromatopsia type 4 OMIM:613856|DOID:0110010|Orphanet:49382|MESH:C564206|UMLS:C1841721 owl:Class HGNC:4394 biolink:NamedThing GNAT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013508 biolink:NamedThing thoracic vertebra pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100258 biolink:NamedThing phytanoyl-CoA hydroxylase deficiency Any disorder of peroxisomal alpha oxidation in which the cause of the disease is a mutation in the PHYH gene. tmpaxzxjjyw_mondo_relaxed.owl PHYH related disorder of peroxisomal alpha oxidation|PHYH deficiency|phytanoyl-CoA hydroxylase deficiency http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:8940 biolink:NamedThing PHYH tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr3q13 biolink:NamedThing 3q13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 122200000 103100000 hg38 owl:Class UBERON:0001731 biolink:NamedThing cavity of pharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004456 biolink:NamedThing cocaine abuse Disorders related or resulting from use of cocaine. tmpaxzxjjyw_mondo_relaxed.owl SCTID:78267003|DOID:809|ICD9:305.60|ICD10:F14.1|ICD9:305.6 owl:Class HGNC:3586 biolink:NamedThing FANCE tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018111 biolink:NamedThing muscle layer of rectum tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2910 biolink:NamedThing DLL4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010544 biolink:NamedThing metacarpus skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013609 biolink:NamedThing Meckel syndrome, type 10 Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome 34|Meckel syndrome caused by mutation in B9D2|Meckel syndrome, type 10|JBTS34|MKS10|B9D2 Meckel syndrome UMLS:C3280036|OMIM:614175|Orphanet:564|UMLS:CN620433|GTR:AN1012156|GTR:AN1012610 owl:Class HGNC:28636 biolink:NamedThing B9D2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010020 biolink:NamedThing congenital generalized lipodystrophy type 2 Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene. tmpaxzxjjyw_mondo_relaxed.owl BSCL2 congenital generalized lipodystrophy (disease)|Berardinelli syndrome|lipodystrophy, Berardinelli-Seip congenital, type 2|CGL2|total lipodystrophy and acromegaloid gigantism|congenital lipoatrophic diabetes|Berardinelli-Seip congenital lipodystrophy type 2|Brunzell syndrome, BSCL2-related|Berardinelli-Seip congenital lipodystrophy, type 2|Brunzell syndrome BSCL2-related|lipoatrophic diabetes, congenital|Berardinelli-Seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, congenital generalized, type 2|Seip syndrome|BSCL2-related Brunzell syndrome|congenital generalized lipodystrophy (disease) caused by mutation in BSCL2|Berardinelli Seip congenital lipodystrophy type 2 GARD:0010212|OMIM:269700|DOID:0111136|ICD10:E88.1|Orphanet:528 https://rarediseases.info.nih.gov/diseases/10212/congenital-generalized-lipodystrophy-type-2 owl:Class GO:0070561 biolink:NamedThing vitamin D receptor signaling pathway The series of molecular signals generated as a consequence of a vitamin D receptor binding to one of its physiological ligands. tmpaxzxjjyw_mondo_relaxed.owl vitamin D receptor signalling pathway|calcitriol signaling pathway|VDR signaling pathway owl:Class CL:0000114 biolink:NamedThing surface ectodermal cell tmpaxzxjjyw_mondo_relaxed.owl cell of surface ectoderm|surface ectoderm cell FMA:72552 cell owl:Class GO:1904057 biolink:NamedThing negative regulation of sensory perception of pain Any process that stops, prevents or reduces the frequency, rate or extent of sensory perception of pain. tmpaxzxjjyw_mondo_relaxed.owl down regulation of nociception|down regulation of sensory perception of pain|downregulation of nociception|inhibition of sensory perception of pain|downregulation of sensory perception of pain|down-regulation of perception of physiological pain|down regulation of perception of physiological pain|inhibition of nociception|negative regulation of nociception|down-regulation of nociception|inhibition of perception of physiological pain|negative regulation of perception of physiological pain|downregulation of perception of physiological pain|down-regulation of sensory perception of pain owl:Class MONDO:0014961 biolink:NamedThing spermatogenic failure 16 Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene. tmpaxzxjjyw_mondo_relaxed.owl acephalic spermatozoa syndrome|spermatogenic failure type 16|spermatogenic failure 16|spermatogenic failure 16; SPGF16|azoospermia caused by mutation in SUN5|SUN5 azoospermia|SPGF16 OMIM:617187|UMLS:C4310674|DOID:0070184 owl:Class HGNC:16252 biolink:NamedThing SUN5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002610 biolink:NamedThing cochlear nuclear complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012753 biolink:NamedThing amyotrophic lateral sclerosis type 9 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ANG gene. tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis type 9|ANG amyotrophic lateral sclerosis|ALS9|amyotrophic lateral sclerosis 9|amyotrophic lateral sclerosis caused by mutation in ANG MESH:C567499|OMIM:611895|GARD:0010498|UMLS:C2678468|Orphanet:803|DOID:0060200 https://rarediseases.info.nih.gov/diseases/10498/amyotrophic-lateral-sclerosis-type-9 owl:Class HGNC:483 biolink:NamedThing ANG tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9081 biolink:NamedThing PLOD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000426 biolink:NamedThing chromaffin cell of adrenal gland A chromaffin cell that is part of the adrenal gland. tmpaxzxjjyw_mondo_relaxed.owl adrenal chromaffin cell FMA:69794 cell owl:Class HP:0001300 biolink:NamedThing Parkinsonism Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. tmpaxzxjjyw_mondo_relaxed.owl Parkinsonian disease MSH:D020734|UMLS:C0242422|SNOMEDCT_US:32798002 human_phenotype owl:Class UBERON:0003599 biolink:NamedThing tail connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010389 biolink:NamedThing X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Any X-linked mendelian susceptibility to mycobacterial diseases in which the cause of the disease is a mutation in the CYBB gene. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 34, Mycobacteriosis, X-linked|immunodeficiency type 34|IMD34|atypical Mycobacteriosis, familial, X-linked 2|X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in CYBB|immunodeficiency 34|X-linked MSMD due to CYBB deficiency|CYBB X-linked mendelian susceptibility to mycobacterial diseases Orphanet:319623|ICD10:D84.8|UMLS:C1970859|Orphanet:319605|OMIM:300645|MESH:C567068 owl:Class HGNC:2578 biolink:NamedThing CYBB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003710 biolink:NamedThing ovarian mixed germ cell neoplasm An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell components. At least one of the germ cell components is primitive. The most common combination of germ cell elements is dysgerminoma and yolk sac tumor. tmpaxzxjjyw_mondo_relaxed.owl mixed germ cell tumor of ovary|mixed germ cell tumor of the ovary|mixed germ cell neoplasm of the ovary|ovarian mixed germ cell tumor|ovarian mixed germ cell neoplasm|mixed germ cell tumor|mixed germ cell neoplasm of ovary|ovary mixed germ cell tumor DOID:5936|UMLS:C0280135|ONCOTREE:OMGCT|NCIT:C8114 owl:Class UBERON:0001585 biolink:NamedThing anterior vena cava tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12340 biolink:NamedThing TRPS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002632 biolink:NamedThing epithelial cell of lower respiratory tract tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-06-21T12:29:31Z cell owl:Class GO:0038024 biolink:NamedThing cargo receptor activity Binding specifically to a substance (cargo) to deliver it to a transport vesicle. Cargo receptors span a membrane (either the plasma membrane or a vesicle membrane), binding simultaneously to cargo molecules and coat adaptors, to efficiently recruit soluble proteins to nascent vesicles. tmpaxzxjjyw_mondo_relaxed.owl receptor activity|endocytic receptor activity|transport receptor activity|receptor activity involved in receptor-mediated endocytosis owl:Class OBO:CHR_9606-chr19p biolink:NamedThing 19p (Human) tmpaxzxjjyw_mondo_relaxed.owl 26200000 0 hg38 owl:Class UBERON:0002460 biolink:NamedThing vesical vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002166 biolink:NamedThing endocardium of atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013034 biolink:NamedThing keratosis palmoplantaris striata 2 Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene. tmpaxzxjjyw_mondo_relaxed.owl striate palmoplantar keratoderma caused by mutation in DSP|PPKS2|keratosis palmoplantaris striata type 2|keratoderma, palmoplantar, striate form 2|striate palmoplantar keratoderma 2|keratosis palmoplantaris striata II|DSP striate palmoplantar keratoderma MESH:C565102|OMIM:612908|Orphanet:50942|UMLS:C1852127 owl:Class HP:0002721 biolink:NamedThing Immunodeficiency Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. tmpaxzxjjyw_mondo_relaxed.owl Immune deficiency|Decreased immune function SNOMEDCT_US:234532001|UMLS:C0021051|MSH:D007153 HP:0005362|HP:0005371 human_phenotype owl:Class MONDO:0012919 biolink:NamedThing type 1 diabetes mellitus 20 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene. tmpaxzxjjyw_mondo_relaxed.owl type 1 diabetes mellitus caused by mutation in HNF1A|IDDM20|insulin-dependent diabetes mellitus 20|diabetes mellitus, insulin-dependent, type 20|diabetes mellitus, insulin-dependent, 20|HNF1A type 1 diabetes mellitus ICD10:E10|UMLS:C2675866|MESH:C567286|DOID:0110757|OMIM:612520 owl:Class HGNC:11621 biolink:NamedThing HNF1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0000056 biolink:NamedThing hypoploid A kind of chromosome variation where the chromosome complement is not an exact multiple of the haploid number as some chromosomes are missing. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002069 biolink:NamedThing stratum granulosum of epidermis tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000712 biolink:NamedThing stratum granulosum cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0011026 biolink:NamedThing autosomal recessive congenital ichthyosis 4A Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive congenital ichthyosis type 4A|ichthyosis, congenital, autosomal recessive 4A|ARCI4A|ichthyosis, lamellar, 2|ichthyosis, lamellar, 2, formerly|LI2|lamellar ichthyosis 2|ichthyosis lamellar 2|ichthyosis congenita 2B|ichthyosis congenita IIB|ichthyosis, congenital, autosomal recessive type 4A|ICR2B|lamellar ichthyosis, type 2 ICD10:Q80.2|GARD:0009733|MESH:C537264|OMIM:601277|DOID:0060712|Orphanet:313 owl:Class HGNC:14637 biolink:NamedThing ABCA12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0001026 biolink:NamedThing CD34-positive, CD38-positive common myeloid progenitor A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative. tmpaxzxjjyw_mondo_relaxed.owl CD71-positive common myeloid precursor Markers are associated with human cell type. Originally described in the dendritic cell ontology (DC_CL:0000038)(PMID:19243617). cell owl:Class HGNC:4584 biolink:NamedThing GRIN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:967 biolink:NamedThing Spirillum tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:19625415 ncbi_taxonomy owl:Class UBERON:0005499 biolink:NamedThing rhombomere 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:50680 biolink:NamedThing methotrexate(1-) tmpaxzxjjyw_mondo_relaxed.owl (2S)-4-carboxy-2-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzamido)butanoate owl:Class UBERON:0007762 biolink:NamedThing metatarsophalangeal joint of pedal digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:28852 biolink:NamedThing SYCE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009487 biolink:NamedThing keratoconus and congenital hip dysplasia tmpaxzxjjyw_mondo_relaxed.owl keratoconus and congenital hip dysplasia OMIM:244510|UMLS:C1855647|MESH:C565456 owl:Class MONDO:0012890 biolink:NamedThing pontocerebellar hypoplasia type 2B Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene. tmpaxzxjjyw_mondo_relaxed.owl pontocerebellar hypoplasia type 2B|TSEN2 non-syndromic pontocerebellar hypoplasia|PCH2B|pontocerebellar hypoplasia, type 2B|non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2 OMIM:612389|MESH:C567325|DOID:0060268|UMLS:C2676466|Orphanet:2524 owl:Class GO:0043242 biolink:NamedThing negative regulation of protein-containing complex disassembly Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of protein complex disassembly|down regulation of protein complex disassembly|downregulation of protein complex disassembly|down-regulation of protein complex disassembly|inhibition of protein complex disassembly owl:Class UBERON:0003247 biolink:NamedThing epithelium of forearm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008495 biolink:NamedThing platelet storage pool deficiency Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation ; easy bruising; recurrent anemia ; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic. tmpaxzxjjyw_mondo_relaxed.owl dense body defect|combined alpha-delta platelet storage pool deficiency|alpha delta granule deficiency|platelet dense granule deficiency|alpha dense granule deficiency|platelet storage pool diseases|storage pool platelet disease|platelet storage pool defect SCTID:234474009|DOID:2223|MESH:D010981|Orphanet:734|OMIM:185050|ICD10:D69.1|EFO:1001112|GARD:0005034 https://rarediseases.info.nih.gov/diseases/5034/platelet-storage-pool-deficiency owl:Class OBO:CHR_9606-chr19q biolink:NamedThing 19q (Human) tmpaxzxjjyw_mondo_relaxed.owl 58617616 26200000 hg38 owl:Class HGNC:8021 biolink:NamedThing NT5E tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011459 biolink:NamedThing arrhythmogenic right ventricular dysplasia 5 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene. tmpaxzxjjyw_mondo_relaxed.owl arrhythmogenic right ventricular cardiomyopathy 5|arrhythmogenic right ventricular dysplasia type 5|ARVC5|arrhythmogenic right ventricular dysplasia 5|arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43|familial arrhythmogenic right ventricular dysplasia 5|TMEM43 arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular dysplasia, familial, type 5|arrhythmogenic right ventricular dysplasia, familial, 5|ARVD5 MESH:C565776|DOID:0110074|UMLS:C1858379|ICD10:I42.8|Orphanet:217656|OMIM:604400 owl:Class MONDO:0013728 biolink:NamedThing pregnancy loss, recurrent, susceptibility to, 2 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene. tmpaxzxjjyw_mondo_relaxed.owl F2 pregnancy loss, recurrent, susceptibility|pregnancy loss, recurrent, susceptibility to, type 2|pregnancy loss, recurrent, susceptibility caused by mutation in F2|RPRGL2|pregnancy loss, recurrent, susceptibility to, 2 OMIM:614390 owl:Class HGNC:3535 biolink:NamedThing F2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7865 biolink:NamedThing NODAL tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0011001 biolink:NamedThing spinal cord motor neuron A motor neuron that passes from the spinal cord toward or to a muscle and conducts an impulse that causes movement. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25033 biolink:NamedThing LRTOMT tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr13q12 biolink:NamedThing 13q12 (Human) tmpaxzxjjyw_mondo_relaxed.owl 31600000 18900000 hg38 owl:Class MONDO:0012804 biolink:NamedThing hypertrophic cardiomyopathy 12 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy familial hypertrophic 12|cardiomyopathy, familial hypertrophic, 12|cardiomyopathy, familial hypertrophic, type 12|CMH12|CSRP3 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy 12|hypertrophic cardiomyopathy caused by mutation in CSRP3|hypertrophic cardiomyopathy type 12 DOID:0110318|UMLS:C2677491|OMIM:612124 owl:Class MONDO:0017056 biolink:NamedThing DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion tmpaxzxjjyw_mondo_relaxed.owl monosomy 21q22.13-q22.2|Del(21)(q22.13q22.2)|21q22.13-q22.2 microdeletion syndrome|21q22.13q22.2 microdeletion syndrome|monosomy 21q22.13q22.2 Orphanet:268261|ICD10:Q93.5|UMLS:CN202414 owl:Class UBERON:0002011 biolink:NamedThing thoracodorsal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006200 biolink:NamedThing epithelioid cell uveal melanoma A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes. tmpaxzxjjyw_mondo_relaxed.owl uveal epithelioid cell melanoma|epithelioid cell melanoma of uvea|epithelioid cell uveal melanoma|uvea epithelioid cell melanoma EFO:1000244|UMLS:C1333422|NCIT:C35780|DOID:7040 owl:Class HGNC:11283 biolink:NamedThing SRC tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001407 biolink:NamedThing mononucleate A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007354 biolink:NamedThing cartilage of pharyngotympanic tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002619 biolink:NamedThing Varicose veins Enlarged and tortuous veins. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:12856003|SNOMEDCT_US:128060009|MSH:D014648|SNOMEDCT_US:399989005|UMLS:C0042345 human_phenotype owl:Class CL:1000454 biolink:NamedThing kidney collecting duct epithelial cell An epithelial cell that is part of the collecting duct of renal tubule. tmpaxzxjjyw_mondo_relaxed.owl epithelial cell of renal collecting tubule KUPO:0001059|FMA:70982 cell owl:Class UBERON:0012483 biolink:NamedThing serosa of cloaca tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr21 biolink:NamedThing chromosome 21 (Human) tmpaxzxjjyw_mondo_relaxed.owl 21 46709983 0 hg38 owl:Class NCBITaxon:5754 biolink:NamedThing Acanthamoeba tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:23419 biolink:NamedThing KIFBP tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0035249 biolink:NamedThing synaptic transmission, glutamatergic The vesicular release of glutamate from a presynapse, across a chemical synapse, the subsequent activation of glutamate receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. tmpaxzxjjyw_mondo_relaxed.owl glutamatergic synaptic transmission owl:Class MONDO:0014125 biolink:NamedThing symphalangism, proximal, 1B Any proximal symphalangism in which the cause of the disease is a mutation in the GDF5 gene. tmpaxzxjjyw_mondo_relaxed.owl symphalangism, proximal, type 1B|SYM1B|GDF5 proximal symphalangism (disease)|symphalangism, proximal, 1B|proximal symphalangism (disease) caused by mutation in GDF5 Orphanet:3250|UMLS:C3809104|OMIM:615298 owl:Class HGNC:4220 biolink:NamedThing GDF5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004907 biolink:NamedThing lower digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0007000 biolink:NamedThing preameloblast Skeletogenic cell that has the potential to develop into an ameloblast. Located in the inner enamel epithelium, these cells elongate, their nuclei shift distally (away from the dental papilla), and their cytoplasm becomes filled with organelles needed for synthesis and secretion of enamel proteins. tmpaxzxjjyw_mondo_relaxed.owl unsure of neural crest contribution. In VSAO we have develops_from CL:0000008 haendel 2012-06-15T01:27:01Z cell owl:Class MONDO:0000913 biolink:NamedThing hereditary spherocytosis type 2 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary spherocytosis caused by mutation in SPTB|SPH2|spherocytosis, hereditary, 2|spherocytosis, type 2|SPTB hereditary spherocytosis|hereditary spherocytosis type 2|HS2|hereditary spherocytosis 2 DOID:0110917|OMIM:616649|UMLS:C2674219 owl:Class HGNC:11274 biolink:NamedThing SPTB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020658 biolink:NamedThing infiltrating ureter transitional cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl DOID:6845 owl:Class UBERON:0003544 biolink:NamedThing brain white matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017859 biolink:NamedThing colchicine poisoning A potentially life-threatening poisoning, due to ingestion of the drug or consumption of the plant Colchicum autumnale, that usually begins with gastrointestinal symptoms (e.g. abdominal pain, nausea, vomiting, and diarrhea, that cause severe dehydration) and an initial leukocytosis leading to marrow failure (24 hours after ingestion), followed by potentially fatal multi-organ failure with mental status change, oliguric renal failure, disseminated intravascular coagulation, electrolyte imbalance, acid-base disturbance, cardiac failure/arrest and shock within 1-3 days. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203894|SCTID:24354007|ICD9:974.7|Orphanet:31824|ICD10:T50.4 owl:Class HGNC:25455 biolink:NamedThing TSR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007267 biolink:NamedThing cell-cell signaling Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. tmpaxzxjjyw_mondo_relaxed.owl cell-cell signalling owl:Class MONDO:0005841 biolink:NamedThing maxillary neoplasm Cancer or tumors of the maxilla or upper jaw. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of bone of upper jaw|bone of upper jaw tumor|tumor of bone of upper jaw|bone of upper jaw neoplasm|maxillary neoplasm|bone of upper jaw neoplasm (disease)|upper jaw bone cancer|maxillary cancer DOID:4618|EFO:0007360|UMLS:C0024954|MESH:D008441|SCTID:126550004 owl:Class CHEBI:29986 biolink:NamedThing D-glutamate(1-) An alpha-amino-acid anion that is the conjugate base of D-glutamic acid, having anionic carboxy groups and a cationic amino group tmpaxzxjjyw_mondo_relaxed.owl D-glutamic acid monoanion|hydrogen D-glutamate|D-glutamate(1-)|(2R)-2-ammoniopentanedioate|D-glutamate owl:Class MONDO:0011715 biolink:NamedThing Seckel syndrome 2 Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene. tmpaxzxjjyw_mondo_relaxed.owl Seckel syndrome caused by mutation in RBBP8|Seckel-type dwarfism 2|RBBP8 Seckel syndrome|SCKL2|microcephalic primordial dwarfism 2|Seckel syndrome type 2|Seckel syndrome 2 DOID:0070013|Orphanet:808|UMLS:C1847572|OMIM:606744|MESH:C537534 owl:Class HGNC:9891 biolink:NamedThing RBBP8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013383 biolink:NamedThing Hirschsprung disease, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl Hirschsprung disease caused by mutation in GDNF|Hirschsprung disease modifier|GDNF Hirschsprung disease|Hirschsprung disease type 3|Hirschsprung disease, susceptibility to, type 3|HSCR3|Hirschsprung disease, susceptibility to, 3|susceptibility to Hirschsprung disease 3 OMIM:613711|MESH:C538121|OMIM:600156|UMLS:C2931739|Orphanet:388|GARD:0002699 https://rarediseases.info.nih.gov/diseases/2699/hirschsprung-disease-type-3 owl:Class HGNC:1260 biolink:NamedThing CFAP410 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001959 biolink:NamedThing white pulp of spleen tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13387 biolink:NamedThing NEK8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000871 biolink:NamedThing negative regulation of progesterone secretion Any process that stops, prevents or reduces the frequency, rate or extent of progesterone secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042701 biolink:NamedThing progesterone secretion The regulated release of progesterone, a steroid hormone, by the corpus luteum of the ovary and by the placenta. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004130 biolink:NamedThing cerebellar layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000131 biolink:NamedThing 37-year-old human stage Adult stage that refers to an adult who is over 37 and under 38. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007072 biolink:NamedThing ADULT syndrome ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. tmpaxzxjjyw_mondo_relaxed.owl acro-dermato-ungual-lacrimal-Tooth syndrome|acro dermato ungual lacrimal tooth syndrome|acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome|ADULT syndrome SCTID:720464003|DOID:0050601|ICD10:Q87.2|MESH:C538052|UMLS:C1863204|OMIM:103285|Orphanet:978|GARD:0000384 owl:Class MONDO:0007524 biolink:NamedThing autosomal dominant Ehlers-Danlos syndrome, vascular type The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant type IV Ehlers-Danlos syndrome|EDSVASC|Ehlers-Danlos syndrome, arterial type|Ehlers-Danlos syndrome, Ecchymotic type|Ehlers-Danlos syndrome, type IV, autosomal dominant|Ehlers-Danlos syndrome, vascular type, autosomal dominant|Ehlers-Danlos syndrome, vascular type|autosomal dominant Ehlers-Danlos syndrome, vascular type|Ehlers-Danlos syndrome, sack-Barabas type|EDS 4 Orphanet:286|OMIM:130050|DOID:14756 owl:Class OBO:CHR_9606-chr1p2 biolink:NamedThing 1p2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 106700000 84400000 hg38 owl:Class OBO:CHR_9606-chr1p biolink:NamedThing 1p (Human) tmpaxzxjjyw_mondo_relaxed.owl 123400000 0 hg38 owl:Class MONDO:0009484 biolink:NamedThing primary ciliary dyskinesia 1 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia 1 with or without situs inversus|Polynesian bronchiectasis|ciliary dyskinesia, primary, type 1|primary ciliary dyskinesia caused by mutation in DNAI1|primary ciliary dyskinesia 1|primary ciliary dyskinesia type 1|PCD|Siewert syndrome|immotile cilia syndrome|DNAI1 primary ciliary dyskinesia|CILD1|ciliary dyskinesia, primary, 1|ciliary dyskinesia, primary, 1, with or without situs inversus|Kartagener syndrome|dextrocardia, bronchiectasis, and sinusitis Orphanet:98861|OMIM:244400|ICD10:Q34.8|DOID:0110594 owl:Class MONDO:0007240 biolink:NamedThing progressive familial heart block, type 1A An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block. tmpaxzxjjyw_mondo_relaxed.owl Lenegre disease|SCN5A progressive familial heart block|Cardiac conduction defect, progressive|Lev disease|hereditary bundle branch system defect|heart block, progressive familial, type 1|Lenegre-Lev disease|Lenegre's disease|heart block, nonprogressive|progressive familial heart block caused by mutation in SCN5A|Lenegre's syndrome|Cardiac conduction defect, nonprogressive|progressive familial heart block type IA|progressive familial heart block, type IA|progressive familial heart block type 1A|heart block progressive familial type 1|PFHB1A GARD:0001093|EFO:0004138|Orphanet:871|DOID:0111074|NCIT:C126651|MESH:D002037|OMIM:113900 Editor note: consider separating aquired and inherited owl:Class MONDO:0018984 biolink:NamedThing Oroya fever An infection that is caused by Bartonella bacilliformis, which is transmitted to humans from infected sandflies. The acute phase (Oroya fever) is characterized by fever, headache, myalgia, enlargement of the lymph nodes, and anemia. The chronic phase (verruga peruana/Peruvian wart) is characterized by benign, eruptive lesions that are bleeding and pruritic, arthralgia, and malaise. tmpaxzxjjyw_mondo_relaxed.owl Bartonella bacilliformis caused disease or disorder|Oroya fever|Bartonella bacilliformis infectious disease|bartonellosis due to Bartonella bacilliformis infection|Carrion disease|Carrión disease|Carrion's disease|Bartonella bacilliformis disease or disorder DOID:0050398|ICD10:A44.0|UMLS:CN205422|SCTID:262461007|NCIT:C128441|Orphanet:64692|UMLS:C0029307|MESH:D001474|SCTID:240453002 owl:Class NCBITaxon:774 biolink:NamedThing Bartonella bacilliformis tmpaxzxjjyw_mondo_relaxed.owl Bartonia bacilliformis GC_ID:11 ncbi_taxonomy owl:Class UBERON:0005437 biolink:NamedThing conus medullaris tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019569 biolink:NamedThing Cockayne syndrome type 1 Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8. tmpaxzxjjyw_mondo_relaxed.owl Cockayne syndrome A|Cockayne syndrome classic form|ERCC8 Cockayne syndrome|Cockayne syndrome type I|Cockayne syndrome classical|CSA|Cockayne syndrome caused by mutation in ERCC8|Cockayne syndrome type a|Cockayne syndrome type 1|Cockayne syndrome type A OMIM:133540|NCIT:C135725|GARD:0001415|UMLS:C0751039|Orphanet:90321|ICD10:Q87.8|Orphanet:191|Orphanet:90324|Orphanet:90322|OMIM:216400 https://rarediseases.info.nih.gov/diseases/1415/cockayne-syndrome-type-i owl:Class HGNC:3439 biolink:NamedThing ERCC8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004827 biolink:NamedThing thyroid gland medulla tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009770 biolink:NamedThing 3MC syndrome 1 Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene. tmpaxzxjjyw_mondo_relaxed.owl Michels syndrome, formerly|oculopalatoskeletal syndrome|3MC1|Michels syndrome|MASP1 3MC syndrome|3MC syndrome type 1|craniosynostosis with 51D anomalies|3MC syndrome caused by mutation in MASP1|3Mc syndrome type 1|3MC syndrome 1 OMIM:257920|UMLS:C0796059|DOID:0060575|Orphanet:293843|Orphanet:2506|EFO:1001978 owl:Class HGNC:6901 biolink:NamedThing MASP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009397 biolink:NamedThing neonatal severe primary hyperparathyroidism Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism. tmpaxzxjjyw_mondo_relaxed.owl hyperparathyroidism, neonatal severe|neonatal severe hyperparathyroidism|hyperparathyroidism, neonatal severe primary|NSHPT|Nsph MESH:C563375|OMIM:239200|Orphanet:417|GARD:0002838|ICD10:E21.0|UMLS:C1832615|SCTID:715218009|NCIT:C131853 owl:Class HGNC:1514 biolink:NamedThing CASR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002836 biolink:NamedThing urethra transitional cell carcinoma A transitional cell carcinoma that arises from the male or female urethra. tmpaxzxjjyw_mondo_relaxed.owl urethral urothelial carcinoma|UCU|urethral transitional cell carcinoma|transitional cell carcinoma of the urethra|transitional cell carcinoma of urethra|urethra transitional cell carcinoma|urethral urothelial cancer NCIT:C6166|UMLS:C0863015|DOID:4013|ONCOTREE:UCU owl:Class MONDO:0100103 biolink:NamedThing fetal akinesia deformation sequence 3 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the DOK7 gene. tmpaxzxjjyw_mondo_relaxed.owl FADS3 OMIM:618389|DOID:0111376 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0035773 biolink:NamedThing insulin secretion involved in cellular response to glucose stimulus The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. tmpaxzxjjyw_mondo_relaxed.owl insulin secretion involved in cellular response to glucose owl:Class MONDO:0008553 biolink:NamedThing platelet-type bleeding disorder 17 An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function. tmpaxzxjjyw_mondo_relaxed.owl platelet-type bleeding disorder 17|bleeding disorder, platelet-type, 17|hereditary thrombasthenia-thrombocytopenia|thrombasthenia-thrombocytopenia, hereditary|inherited bleeding disorder, platelet-type caused by mutation in GFI1B|bleeding disorder, platelet-type 17|BDPLT17|GFI1B inherited bleeding disorder, platelet-type ICD10:D69.1|MESH:D055652|NCIT:C142084|MESH:C566060|Orphanet:721|DOID:0111049|UMLS:C0272302|OMIM:187900 owl:Class HGNC:4238 biolink:NamedThing GFI1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012120 biolink:NamedThing pyruvate dehydrogenase phosphatase deficiency Pyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by lactic acidemia in the neonatal period. tmpaxzxjjyw_mondo_relaxed.owl pyruvate dehydrogenase phosphatase deficiency|PDHPD|lactic acidemia with pyruvate dehydrogenase phosphatase deficiency|PDH phosphatase deficiency ICD10:E74.4|UMLS:C1837429|Orphanet:79246|OMIM:608782|Orphanet:765|GARD:0009888|MESH:C536258 https://rarediseases.info.nih.gov/diseases/9888/pyruvate-dehydrogenase-phosphatase-deficiency owl:Class HGNC:9279 biolink:NamedThing PDP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014916 biolink:NamedThing developmental and epileptic encephalopathy, 41 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 41; EIEE41|SLC1A2 early infantile epileptic encephalopathy|DEE41|epileptic encephalopathy, early infantile, type 41|EIEE41|epileptic encephalopathy, early infantile, 41|developmental and epileptic encephalopathy, 41|early infantile epileptic encephalopathy caused by mutation in SLC1A2 DOID:0080442|UMLS:C4310717|OMIM:617105 owl:Class HGNC:10940 biolink:NamedThing SLC1A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009633 biolink:NamedThing microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma tmpaxzxjjyw_mondo_relaxed.owl microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma|MSPKA OMIM:251750|Orphanet:238763|UMLS:C3538951 owl:Class MONDO:0004465 biolink:NamedThing periampullary adenocarcinoma An adenocarcinoma that arises from the periampullary region. tmpaxzxjjyw_mondo_relaxed.owl periampullary region of duodenum adenocarcinoma|periampullary cancer|periampullary adenocarcinoma UMLS:C1335377|DOID:8110|NCIT:C27322 owl:Class UBERON:0012273 biolink:NamedThing periampullary region of duodenum tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000548 biolink:NamedThing kidney outer medulla collecting duct epithelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001062 cell owl:Class CL:1001590 biolink:NamedThing epididymis glandular cell Glandular cell of epididymal epithelium. tmpaxzxjjyw_mondo_relaxed.owl epididymal glandular cell|epididymis glandular cells CALOHA:TS-1276 owl:Class MONDO:0010844 biolink:NamedThing epiphyseal dysplasia, multiple, 2 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene. tmpaxzxjjyw_mondo_relaxed.owl multiple epiphyseal dysplasia 2|epiphyseal dysplasia, multiple, 2|epiphyseal dysplasia, multiple, type 2|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A2|EDM2|COL9A2 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia multiple 2 MESH:C535502|DOID:0070298|GARD:0009791|Orphanet:166002|UMLS:C1838429|OMIM:600204 https://rarediseases.info.nih.gov/diseases/9791/multiple-epiphyseal-dysplasia-2 owl:Class HGNC:4221 biolink:NamedThing GDF6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017047 biolink:NamedThing infantile axonal neuropathy tmpaxzxjjyw_mondo_relaxed.owl GARD:0002996|Orphanet:2679|ICD10:G60.8 https://rarediseases.info.nih.gov/diseases/2996/infantile-axonal-neuropathy owl:Class MONDO:0042491 biolink:NamedThing cervical squamous intraepithelial neoplasia A neoplastic process that affects the squamous epithelium of the cervix. It is classified as cervical squamous intraepithelial neoplasia 1, 2, or 3, according to the degree of squamous cell maturation and cellular atypia, and the number of mitotic figures. tmpaxzxjjyw_mondo_relaxed.owl cervix squamous intraepithelial lesion|uterine cervix sil|squamous intraepithelial lesion of the cervix uteri|squamous intraepithelial lesion of cervix uteri|squamous intraepithelial lesion of the uterine cervix|cervical sil|CIN|squamous intraepithelial lesion of cervix|cervix uteri squamous intraepithelial lesion|uterine cervix squamous intraepithelial lesion|squamous intraepithelial lesion of the cervix|cervix uteri sil|cervical squamous intraepithelial lesion|squamous intraepithelial lesion of uterine cervix|cervical squamous intraepithelial neoplasia MESH:D065310|NCIT:C7346 owl:Class UBERON:0000439 biolink:NamedThing arachnoid trabecula tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005199 biolink:NamedThing cervical mammary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005434 biolink:NamedThing cervical region tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:406 biolink:NamedThing ALDH4A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013432 biolink:NamedThing Meier-Gorlin syndrome 5 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene. tmpaxzxjjyw_mondo_relaxed.owl Meier-Gorlin syndrome caused by mutation in CDC6|CDC6 Meier-Gorlin syndrome|Meier-GORLIN syndrome 5|Meier-Gorlin syndrome 5|MGORS5|Meier-Gorlin syndrome type 5 OMIM:613805|Orphanet:2554|UMLS:C3151126|DOID:0080516 owl:Class HGNC:1744 biolink:NamedThing CDC6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032635 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 32 tmpaxzxjjyw_mondo_relaxed.owl MC1DN32|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 OMIM:618252 owl:Class CHEBI:57981 biolink:NamedThing D-phenylalanine zwitterion A D-alpha-amino acid zwitterion that is D-phenylalanine in which a proton has been transferred from the carboxy group to the amino group. It is the major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl (2R)-2-azaniumyl-3-phenylpropanoate|(2R)-2-ammonio-3-phenylpropanoate|D-phenylalanine owl:Class CHEBI:58095 biolink:NamedThing L-phenylalanine zwitterion An amino acid zwitterion arising from transfer of a proton from the carboxy to the amino group of L-phenylalanine; major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl (2S)-2-ammonio-3-phenylpropanoate|(2S)-2-azaniumyl-3-phenylpropanoate|phenylalanine|L-phenylalanine owl:Class HP:0001022 biolink:NamedThing Albinism An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). tmpaxzxjjyw_mondo_relaxed.owl Albinism|Achromasia MSH:D000417|SNOMEDCT_US:15890002|UMLS:C0333913|SNOMEDCT_US:18064000|UMLS:C0001916 human_phenotype owl:Class MONDO:0017803 biolink:NamedThing primary progressive apraxia of speech tmpaxzxjjyw_mondo_relaxed.owl PPAOS UMLS:CN203766|Orphanet:314566 owl:Class HGNC:2395 biolink:NamedThing CRYBA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013092 biolink:NamedThing glioma susceptibility 2 Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene. tmpaxzxjjyw_mondo_relaxed.owl glioma susceptibility type 2|PTEN malignant glioma|malignant glioma caused by mutation in PTEN|GLM2|glioma susceptibility 2 Orphanet:182067|OMIM:613028 owl:Class MONDO:0003083 biolink:NamedThing venous hemangioma A rare slow growing benign tumor of aberrant and ectatic venous connections. tmpaxzxjjyw_mondo_relaxed.owl Venous malformation|Venous angioma ICD9:228.09|SCTID:403968005|ICDO:9122/0|UMLS:C0334532|DOID:467|NCIT:C4296 owl:Class MONDO:0008047 biolink:NamedThing episodic ataxia type 1 Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia. tmpaxzxjjyw_mondo_relaxed.owl continuous muscle fiber activity, hereditary|myokymia with periodic ataxia|continuous muscle fiber activity|acetazolamide-responsive periodic ataxia|Isaacs-Mertens syndrome|episodic ataxia, type 1|ataxia, episodic, with myokymia|EA1|KCNA1 hereditary episodic ataxia|episodic ataxia with myokymia|familial paroxysmal kinesigenic ataxia and continuous myokymia|myokymia 1 with or without hypomagnesemia|myokymia 1|hereditary episodic ataxia caused by mutation in KCNA1|hereditary paroxysmal ataxia with neuromyotonia|paroxysmal ataxia with neuromyotonia, hereditary ICD10:G11.8|Orphanet:37612|SCTID:421182009|UMLS:C1719788|OMIM:160120|UMLS:CN042654|DOID:0050989|Orphanet:972 owl:Class HP:0001927 biolink:NamedThing Acanthocytosis Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. tmpaxzxjjyw_mondo_relaxed.owl Acanthocytes|Red cell acanthocytosis SNOMEDCT_US:250249008|UMLS:C0687751 HP:0005552 human_phenotype owl:Class MONDO:0000777 biolink:NamedThing gastrointestinal allergy A allergic disease that involves the digestive tract. tmpaxzxjjyw_mondo_relaxed.owl allergic disease of digestive tract|digestive tract allergic disease DOID:0060502 owl:Class MONDO:0020467 biolink:NamedThing mosaic monosomy X tmpaxzxjjyw_mondo_relaxed.owl XX/XO|Mosaic monosomy type X|Mosaic Turner syndrome UMLS:C4040907|UMLS:CN776903|SCTID:710010005|ICD10:Q96.3|Orphanet:99228|ICD10:Q96.4 Editor note: add qualifier for mosaicism owl:Class GO:0016311 biolink:NamedThing dephosphorylation The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:8410016 biolink:NamedThing descending sigmoid junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0035369 biolink:NamedThing pre-B cell receptor complex An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. tmpaxzxjjyw_mondo_relaxed.owl pre-BCR owl:Class HP:0001733 biolink:NamedThing Pancreatitis The presence of inflammation in the pancreas. tmpaxzxjjyw_mondo_relaxed.owl Pancreatic inflammation MSH:D010195|UMLS:C0030305|SNOMEDCT_US:75694006 human_phenotype owl:Class MONDO:0008915 biolink:NamedThing dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome A syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH). tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy with primary testicular failure|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|genital anomaly with cardiomyopathy|cardiogenital syndrome|Najjar syndrome|dilated cardiomyopathy with hypergonadotropic hypogonadism|Malouf syndrome|cardiomyopathy, dilated, with hypergonadotropic hypogonadism|cardiomyopathy, dilated, with premature ovarian failure UMLS:C0796083|OMIM:212112|ICD10:Q87.8|DOID:0111584|SCTID:719451006|Orphanet:2229|UMLS:C0796031|GARD:0003373 owl:Class GO:0002707 biolink:NamedThing negative regulation of lymphocyte mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of lymphocyte mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl down regulation of lymphocyte mediated immunity|down-regulation of lymphocyte mediated immunity|inhibition of lymphocyte mediated immunity|downregulation of lymphocyte mediated immunity owl:Class UBERON:0005319 biolink:NamedThing mesonephric collecting duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003339 biolink:NamedThing ganglion of central nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000092 biolink:NamedThing post-embryonic stage stage succeeding embryo, including mature structure tmpaxzxjjyw_mondo_relaxed.owl postembryonic stage|post-hatching stage|postembryonic owl:Class CL:0000108 biolink:NamedThing cholinergic neuron A neuron that uses acetylcholine as a vesicular neurotransmitter. tmpaxzxjjyw_mondo_relaxed.owl FMA:84796|WBbt:0006840|BTO:0004902 cell owl:Class GO:0014055 biolink:NamedThing acetylcholine secretion, neurotransmission The regulated release of acetylcholine by a cell. The acetylcholine acts as a neurotransmitter that acts in both the peripheral nervous system (PNS) and central nervous system (CNS). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006802 biolink:NamedThing inappropriate ADH syndrome A syndrome characterized by abnormal secretion of antidiuretic hormone in conjunction with neoplastic growth occurring anywhere in the body. tmpaxzxjjyw_mondo_relaxed.owl syndrome of inappropriate antidiuretic hormone secretion|syndrome of inappropriate secretion of ADH|ectopic antidiuretic hormone secretion|syndrome of inappropriate vasopressin secretion|inappropriate Arginine vasopressin secretion|inappropriate antidiuretic hormone secretion syndrome|syndrome of inappropriate antidiuretic hormone|SIADH|inappropriate ADH secretion|syndrome of inappropriate secretion of antidiuretic hormone|ectopic ADH secretion UMLS:C0021141|ICD10:E22.2|EFO:1000982|SCTID:55004003|DOID:3401|NCIT:C3988|MedDRA:10042818|MESH:D007177|ICD9:253.6|Orphanet:83449 owl:Class GO:0030103 biolink:NamedThing vasopressin secretion The regulated release of vasopressin from secretory granules into the blood. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3048 biolink:NamedThing DSG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048589 biolink:NamedThing developmental growth The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0022008 biolink:NamedThing neurogenesis Generation of cells within the nervous system. tmpaxzxjjyw_mondo_relaxed.owl neural cell differentiation|nervous system cell generation owl:Class CL:2000074 biolink:NamedThing splenocyte Any leukocyte that is part of a spleen. tmpaxzxjjyw_mondo_relaxed.owl Splenocytes is a vague term that refers to any one of the different white blood cell types in the spleen. This name is seen many references as such and is not explained further, necessitating a need for this terminology. TermGenie 2014-11-05T01:26:50Z cell owl:Class UBERON:0010982 biolink:NamedThing latissimus dorsi pre-muscle mass tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003080 biolink:NamedThing anterior neural tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class OGMS:0000060 biolink:NamedThing bodily process A process in which at least one bodily component of an organsim participates. tmpaxzxjjyw_mondo_relaxed.owl From OGMS: http://purl.obolibrary.org/obo/OGMS_0000060 creation date: 2009-06-23T11:53:49Z http://www.jbiomedsem.com/content/1/1/10 Albert Goldfain owl:Class MONDO:0012591 biolink:NamedThing osteogenesis imperfecta type 5 Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI). tmpaxzxjjyw_mondo_relaxed.owl OI type V|IFITM5 osteogenesis imperfecta|OI, type 5|OI5|osteogenesis imperfecta, type V|type V OI|osteogenesis imperfecta type V|osteogenesis imperfecta caused by mutation in IFITM5|osteogenesis imperfecta, type 5|OI type 5|OI with calcification in interosseous membranes OMIM:610967|MESH:C567042|DOID:0110344|GARD:0008699|Orphanet:216828|UMLS:C1970414|ICD10:Q78.0 owl:Class UBERON:0011093 biolink:NamedThing left pelvic girdle region tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7559 biolink:NamedThing MYCN tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002561 biolink:NamedThing lumen of central nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006150 biolink:NamedThing colon Burkitt lymphoma A rare Burkitt lymphoma that arises from the colon. tmpaxzxjjyw_mondo_relaxed.owl primary colon Burkitt's lymphoma|colon Burkitt's lymphoma|Burkitts lymphoma of colon|colon Burkitt lymphoma|Burkitt lymphoma of colon|colon Burkitts lymphoma EFO:1000182|UMLS:C1333083|NCIT:C27465 owl:Class UBERON:0012330 biolink:NamedThing nasal-associated lymphoid tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010885 biolink:NamedThing hindlimb cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015792 biolink:NamedThing transient congenital hypothyroidism A common, self-limiting thyroid disorder seen in preterm infants that is characterized by abnormally low serum levels of thyroxine and free thyroxine with normal serum levels of thyroid stimulating hormone. tmpaxzxjjyw_mondo_relaxed.owl hypothyroxinemia of prematurity|THOP|transient hypothyroxinemia of prematurity SCTID:119181000119104|NCIT:C113171|Orphanet:178045|UMLS:C3827793 owl:Class GO:0008046 biolink:NamedThing axon guidance receptor activity Combining with an extracellular messenger and transmitting the signal from one side of the membrane to the other to results in a change in cellular activity involved in axon guidance. tmpaxzxjjyw_mondo_relaxed.owl receptor activity involved in axon guidance owl:Class MONDO:0005654 biolink:NamedThing ascariasis An infection that is caused by the roundworm Ascaris lumbricoides, many cases of which remain asymptomatic. During the transient larval migratory phase, shortness of breath, fever, and eosinophilia can occur. Depending on the intestinal worm burden, a spectrum of gastrointestinal tract symptoms can occur. tmpaxzxjjyw_mondo_relaxed.owl Ascaris lumbricoides infection|Ascaris lumbricoides disease or disorder|ascariasis - roundworm|Ascaris lumbricoides caused disease or disorder|Ascaris lumbricoides infectious disease ICD9:127.0|DOID:456|MESH:D001196|CSP:1248-7284|EFO:0007154|UMLS:C0003950|NCIT:C128392|ICD10:B77|SCTID:2435008|ICD10:B77.9 owl:Class NCBITaxon:6252 biolink:NamedThing Ascaris lumbricoides tmpaxzxjjyw_mondo_relaxed.owl common roundworm GC_ID:1 ncbi_taxonomy owl:Class HGNC:4556 biolink:NamedThing GPX4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011364 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 16 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene. tmpaxzxjjyw_mondo_relaxed.owl DFNB16|deafness, autosomal recessive type 16|STRC autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 16|autosomal recessive deafness 16|deafness, autosomal recessive 16|autosomal recessive nonsyndromic deafness 16|autosomal recessive nonsyndromic deafness caused by mutation in STRC MESH:C566339|ICD10:H90.3|DOID:0110471|OMIM:603720|UMLS:C1863561 owl:Class HGNC:16035 biolink:NamedThing STRC tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13666 biolink:NamedThing AAAS tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6944 biolink:NamedThing Ixodes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:1905123 biolink:NamedThing regulation of glucosylceramidase activity Any process that modulates the frequency, rate or extent of glucosylceramidase activity. tmpaxzxjjyw_mondo_relaxed.owl regulation of beta-glucosylceramidase activity|regulation of GCase activity|regulation of glucocerebrosidase activity|regulation of GlcCer-beta-glucosidase activity|regulation of glucosylcerebrosidase activity|regulation of acid beta-glucosidase activity|regulation of glucosylsphingosine beta-D-glucosidase activity|regulation of glucosphingosine glucosylhydrolase activity|regulation of beta-glucocerebrosidase activity|regulation of glucosylsphingosine beta-glucosidase activity|regulation of psychosine hydrolase activity|regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|regulation of ceramide glucosidase activity|regulation of beta-D-glucocerebrosidase activity owl:Class CL:0002596 biolink:NamedThing smooth muscle cell of the carotid artery Smooth muscle cell of the carotid artery. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T05:01:56Z cell owl:Class HGNC:9181 biolink:NamedThing POLH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014435 biolink:NamedThing Bardet-Biedl syndrome 7 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS7 gene. tmpaxzxjjyw_mondo_relaxed.owl BBS7 Bardet-Biedl syndrome|Bardet-Biedl syndrome type 7|Bardet-Biedl syndrome 7|Bardet-Biedl syndrome caused by mutation in BBS7|BBS7 OMIM:615984|MESH:C565916|OMIM:209900|EFO:0009026|GARD:0010206|UMLS:C1859565|ICD10:Q87.89|DOID:0110129 https://rarediseases.info.nih.gov/diseases/10206/bardet-biedl-syndrome-7 owl:Class HGNC:18758 biolink:NamedThing BBS7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008713 biolink:NamedThing pectoral girdle and thoracic body wall skeletal muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010349 biolink:NamedThing otic capsule pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003890 biolink:NamedThing Mullerian duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11006 biolink:NamedThing SLC2A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29514 biolink:NamedThing GLDN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010239 biolink:NamedThing lissencephaly type 1 due to doublecortin gene mutation Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked disease characterised by intellectual deficiency and seizures that are more severe in male patients. tmpaxzxjjyw_mondo_relaxed.owl Dc syndrome|lissencephaly type 1 due to doublecortin gene mutation|subcortical laminar heterotopia, X-linked,|lissencephaly X-linked|lissencephaly and agenesis of corpus callosum|LISX1|subcortical laminar heterotopia, X-linked|LISX|Double cortex syndrome|lissencephaly, X-linked, 1|X-linked lissencephaly|X-linked lissencephaly type 1|subcortical band heterotopia, X-linked|Xlis|XLIS|lissencephaly, X-linked, type 1 GARD:0006914|UMLS:C1848199|ICD10:Q04.3|OMIM:300067|SCTID:715780008|UMLS:C4275012|UMLS:C1848201|Orphanet:2148|Orphanet:99796 https://rarediseases.info.nih.gov/diseases/6914/lissencephaly-x-linked owl:Class HGNC:2714 biolink:NamedThing DCX tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00003074 biolink:NamedThing manufactured product A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. tmpaxzxjjyw_mondo_relaxed.owl manufactured good owl:Class ENVO:01000993 biolink:NamedThing manufacturing process A planned process during which raw or recycled materials are transformed into products for use or sale using labour and machines, tools, chemical and biological processing, or formulation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007398 biolink:NamedThing ectoderm development The process whose specific outcome is the progression of the ectoderm over time, from its formation to the mature structure. In animal embryos, the ectoderm is the outer germ layer of the embryo, formed during gastrulation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007735 biolink:NamedThing metacarpophalangeal joint of manual digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010162 biolink:NamedThing tyrosinemia type III Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate. tmpaxzxjjyw_mondo_relaxed.owl TYRSN3|tyrosinemia due to HPD deficiency|4-alpha hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia, type III|tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency|tyrosinemia type III|tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia type 3|4-Hydroxyphenylpyruvate dioxygenase deficiency|4-alpha hydroxyphenylpyruvic acid oxidase deficiency|tyrosinemia, type 3|4-Hydroxyphenylpyruvic acid oxidase deficiency Orphanet:69723|ICD9:270.2|SCTID:415764005|GARD:0010332|UMLS:C0268623|OMIM:276710|MedDRA:10069461|ICD10:E70.2|DOID:0050727 https://rarediseases.info.nih.gov/diseases/10332/tyrosinemia-type-3 owl:Class HGNC:5147 biolink:NamedThing HPD tmpaxzxjjyw_mondo_relaxed.owl owl:Class PCO:0000001 biolink:NamedThing population of organisms A collection of organisms, all of the same species, that live in the same place. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:30411 biolink:NamedThing cobalamin A cobalt-corrinoid hexaamide that is cobalamin with the oxidation state of the central cobalt atom unspecified. tmpaxzxjjyw_mondo_relaxed.owl COBALAMIN|Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-cobamide|cobalamin owl:Class CL:1001592 biolink:NamedThing gall bladder glandular cell Glandular cell of gall bladder epithelium. tmpaxzxjjyw_mondo_relaxed.owl gallbladder glandular cell|gall bladder glandular cells|gallbladder glandular cells CALOHA:TS-1278 owl:Class HsapDv:0000111 biolink:NamedThing 17-year-old human stage Adolescent stage that refers to an adolescent who is over 17 and under 18 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014092 biolink:NamedThing schizophrenia 18 A schizophrenia that has material basis in a mutation of SLC1A1 on chromosome 9p24.2. tmpaxzxjjyw_mondo_relaxed.owl schizophrenia 18|SCZD18|schizophrenia type 18|schizoaffective disorder|chromosome 7q36.3 Duplication syndrome, 362-Kb|schizophrenia 18 with or without an affective disorder UMLS:C3808913|OMIM:615232|DOID:0070093 owl:Class HGNC:10939 biolink:NamedThing SLC1A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011683 biolink:NamedThing oculocutaneous albinism type 4 Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. tmpaxzxjjyw_mondo_relaxed.owl oculocutaneous albinism type IV|oculocutaneous albinism, type 4|oculocutaneous albinism caused by mutation in SLC45A2|albinism, oculocutaneous, type IV|SLC45A2 oculocutaneous albinism|OCA4|albinism, oculocutaneous, type 4 ICD10:E70.3|OMIM:606574|Orphanet:79435|MESH:C564696|UMLS:C1847836|DOID:0070098|SCTID:715632003 owl:Class UBERON:0000397 biolink:NamedThing colonic epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009624 biolink:NamedThing lumbar nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011695 biolink:NamedThing embryonic cardiovascular system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012141 biolink:NamedThing orofacial cleft 6, susceptibility to Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene. tmpaxzxjjyw_mondo_relaxed.owl susceptibility to orofacial cleft 6|cleft lip with or without cleft palate, nonsyndromic, 6|orofacial cleft caused by mutation in IRF6|OFC6|orofacial cleft 6, susceptibility to|IRF6 orofacial cleft DOID:0080593|OMIM:608864|Orphanet:1991 owl:Class MONDO:0010137 biolink:NamedThing thyroid dyshormonogenesis 5 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene. tmpaxzxjjyw_mondo_relaxed.owl thyroid hormonogenesis, genetic defect in, 5|familial thyroid dyshormonogenesis caused by mutation in DUOXA2|hypothyroidism, congenital, due to dyshormonogenesis, 5|DUOXA2 familial thyroid dyshormonogenesis|TDH5|thyroid dyshormonogenesis type 5|thyroid dyshormonogenesis 5 UMLS:C0342196|Orphanet:95716|MESH:C562771|OMIM:274900|SCTID:63127008 owl:Class HGNC:32698 biolink:NamedThing DUOXA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003824 biolink:NamedThing nerve of thoracic segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:MFOMD_0000025 biolink:NamedThing mental disease course A disease course of a mental disease. tmpaxzxjjyw_mondo_relaxed.owl mental disorder http://www.jbiomedsem.com/content/1/1/10 owl:Class MONDO:0003849 biolink:NamedThing clivus chordoma A slow-growing malignant bone tumor arising from the remnants of the notochord and occurring in the clivus. It is characterized by a lobulated growth pattern, myxoid stroma formation, and the presence of physaliphorous cells. tmpaxzxjjyw_mondo_relaxed.owl chordoma (disease) of clivus of occipital bone|chordoma of the clivus|clival chordoma|chordoma of clivus|clivus of occipital bone chordoma (disease) DOID:6312|UMLS:C1333071|NCIT:C5412|ICD9:170.0|SCTID:446939001 owl:Class HGNC:29401 biolink:NamedThing MYSM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:49023 biolink:NamedThing prostaglandin antagonist A compound that inhibits the action of prostaglandins. tmpaxzxjjyw_mondo_relaxed.owl prostaglandin inhibitor owl:Class MONDO:0012725 biolink:NamedThing lipoprotein glomerulopathy tmpaxzxjjyw_mondo_relaxed.owl LPG|lipoprotein glomerulopathy ICD10:N07.8|UMLS:C2673196|SCTID:446923008|OMIM:611771|ICD9:272.8|Orphanet:329481|ICD9:593.89|MESH:C567089 owl:Class HGNC:613 biolink:NamedThing APOE tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000442 biolink:NamedThing right testicular vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000128 biolink:NamedThing 34-year-old human stage Adult stage that refers to an adult who is over 34 and under 35. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:14321 biolink:NamedThing glutamate(1-) An alpha-amino-acid anion that is the conjugate base of glutamic acid, having anionic carboxy groups and a cationic amino group tmpaxzxjjyw_mondo_relaxed.owl hydrogen glutamate|glutamate|glutamic acid monoanion|glutamate(1-)|2-ammoniopentanedioate owl:Class CHEBI:18237 biolink:NamedThing glutamic acid An alpha-amino acid that is glutaric acid bearing a single amino substituent at position 2. tmpaxzxjjyw_mondo_relaxed.owl 2-Aminoglutaric acid|DL-Glutamic acid|E|2-aminopentanedioic acid|Glutaminic acid|Glutaminsaeure|Glu|Glutamic acid|Glutamate|DL-Glutaminic acid|glutamic acid owl:Class NCBITaxon:11216 biolink:NamedThing Human respirovirus 3 tmpaxzxjjyw_mondo_relaxed.owl HPIV3|Human parainfluenza 3 virus|Human parainfluenza virus 3|Parainfluenza virus type 3|parainfluenza virus type 3 PIV-3|human parainfluenza virus 3 HPIV3|human parainfluenza virus type 3 PIV3|Human parainfluenza virus type 3|HPIV-3|human parainfluenza virus GC_ID:1 NCBITaxon:11202 ncbi_taxonomy owl:Class CHEBI:33559 biolink:NamedThing s-block element atom tmpaxzxjjyw_mondo_relaxed.owl s-block element|s-block elements owl:Class MONDO:0009227 biolink:NamedThing myofibromatosis, infantile, 1 Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene. tmpaxzxjjyw_mondo_relaxed.owl myofibromatosis, juvenile|myofibromatosis, infantile, type 1|myofibromatosis caused by mutation in PDGFRB|fibromatosis, congenital generalized|PDGFRB myofibromatosis|IMF1|myofibromatosis, infantile, 1 Orphanet:2591|SCTID:254146000|ICD9:756.9|MESH:C562978|OMIM:228550 owl:Class UBERON:0005760 biolink:NamedThing urorectal septum tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0005912 biolink:NamedThing Biliary atresia Atresia of the biliary tree. tmpaxzxjjyw_mondo_relaxed.owl Biliary duct atresia SNOMEDCT_US:77480004|MSH:D001656|SNOMEDCT_US:82821008|UMLS:C0005411 peter 2008-03-27T02:07:00Z human_phenotype owl:Class MONDO:0010818 biolink:NamedThing retinitis pigmentosa 12 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa caused by mutation in CRB1|retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium|retinitis pigmentosa 12|retinitis pigmentosa type 12|RP 12|RP with or without preserved Paraarteriole retinal pigment epithelium|CRB1 retinitis pigmentosa|RP12|RP with or without Pprpe GARD:0010376|MESH:C563999|ICD10:H35.5|DOID:0110358|UMLS:C1838647|OMIM:600105 https://rarediseases.info.nih.gov/diseases/10376/retinitis-pigmentosa-12 owl:Class UBERON:0001296 biolink:NamedThing myometrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:22932 biolink:NamedThing GMPPB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012068 biolink:NamedThing brachial palsy, familial congenital tmpaxzxjjyw_mondo_relaxed.owl brachial palsy, familial congenital UMLS:C1837810|MESH:C563901|OMIM:608585 owl:Class MONDO:0012394 biolink:NamedThing multiple synostoses syndrome 2 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene. tmpaxzxjjyw_mondo_relaxed.owl multiple synostoses syndrome caused by mutation in GDF5|multiple synostoses syndrome type 2|SYNS2|GDF5 multiple synostoses syndrome|multiple synostoses syndrome 2 UMLS:C1832708|MESH:C537380|GARD:0009916|OMIM:610017|Orphanet:3237 https://rarediseases.info.nih.gov/diseases/9916/multiple-synostoses-syndrome-2 owl:Class CL:0005026 biolink:NamedThing hepatoblast Multi fate stem cell that gives rise to both hepatocytes and cholangiocytes as descendants. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000045 biolink:NamedThing foreskin melanocyte Any melanocyte that is part of a prepuce of penis. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-07-09T00:45:07Z cell owl:Class UBERON:0007269 biolink:NamedThing pectoral appendage musculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006668 biolink:NamedThing carotid canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000135 biolink:NamedThing 41-year-old human stage Adult stage that refers to an adult who is over 41 and under 42. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003269 biolink:NamedThing skeletal muscle tissue of eye tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11199 biolink:NamedThing SOX3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010136 biolink:NamedThing thyroid dyshormonogenesis 4 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene. tmpaxzxjjyw_mondo_relaxed.owl thyroid dyshormonogenesis 4|deiodinase deficiency|hypothyroidism, congenital, due to dyshormonogenesis, 4|TDH4|thyroid hormonogenesis, genetic defect in, 4|familial thyroid dyshormonogenesis caused by mutation in IYD|IYD familial thyroid dyshormonogenesis|thyroid dyshormonogenesis type 4|iodotyrosine dehalogenase deficiency MESH:C562770|UMLS:C0342195|SCTID:17885001|OMIM:274800|Orphanet:95716 owl:Class HGNC:21071 biolink:NamedThing IYD tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr3q27.3 biolink:NamedThing 3q27.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 188200000 186300000 hg38 owl:Class UBERON:0006924 biolink:NamedThing stomach glandular epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006931 biolink:NamedThing stomach glandular region mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010410 biolink:NamedThing inguinal fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006941 biolink:NamedThing striated muscle contraction A process in which force is generated within striated muscle tissue, resulting in the shortening of the muscle. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. Striated muscle is a type of muscle in which the repeating units (sarcomeres) of the contractile myofibrils are arranged in registry throughout the cell, resulting in transverse or oblique striations observable at the level of the light microscope. tmpaxzxjjyw_mondo_relaxed.owl sarcomeric muscle contraction owl:Class MONDO:0012217 biolink:NamedThing Bruck syndrome 2 Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene. tmpaxzxjjyw_mondo_relaxed.owl Bruck syndrome caused by mutation in PLOD2|BRKS2|PLOD2 Bruck syndrome|osteogenesis imperfecta with congenital Joint contractures|Bruck syndrome 2|Bruck syndrome type 2 UMLS:C1836602|GARD:0010023|OMIM:609220|Orphanet:2771 owl:Class HGNC:9082 biolink:NamedThing PLOD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014929 biolink:NamedThing retinitis pigmentosa 76 Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 76|POMGNT1 retinitis pigmentosa|retinitis pigmentosa type 76|retinitis pigmentosa caused by mutation in POMGNT1|RP76|retinitis pigmentosa 76; RP76 OMIM:617123|UMLS:C4310704 owl:Class HGNC:19139 biolink:NamedThing POMGNT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0045058 biolink:NamedThing ACTH-producing pituitary gland neoplasm An adenoma or carcinoma of the pituitary gland that produces corticotropin. tmpaxzxjjyw_mondo_relaxed.owl adrenocorticotropin producing pituitary gland tumor|ACTH-producing pituitary gland neoplasm|adrenocorticotropin secreting neoplasm of the pituitary|ACTH producing pituitary gland neoplasm|ACTH-secreting tumor of the pituitary|pituitary corticotropin secreting tumor|ACTH-producing pituitary tumor|pituitary corticotropin secreting neoplasm|adrenocorticotropin secreting neoplasm of pituitary|ACTH-secreting tumor of pituitary|ACTH-producing pituitary neoplasm|adrenocorticotropin secreting pituitary gland tumor|adrenocorticotropin secreting tumor of pituitary|adrenocorticotropin secreting tumor of the pituitary|corticotropin secreting pituitary gland neoplasm UMLS:C0278862|NCIT:C7909 owl:Class N2dca457097ec41f4b1fa5735d401b3e2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004786 biolink:NamedThing chronic cholangitis Cholangitis that is persistent and long-standing. tmpaxzxjjyw_mondo_relaxed.owl cholangitis, chronic DOID:9439|NCIT:C35335|SCTID:71912000|UMLS:C0267918 owl:Class CL:1001573 biolink:NamedThing nasopharyngeal epithelial cell Cell of the nasopharyngeal epithelium. tmpaxzxjjyw_mondo_relaxed.owl nasopharynx respiratory epithelial cells CALOHA:TS-2398 owl:Class NCBITaxon:10310 biolink:NamedThing Human alphaherpesvirus 2 tmpaxzxjjyw_mondo_relaxed.owl Herpes simplex virus 2|Human herpesvirus 2|Herpes simplex virus (type 2)|Herpes simplex virus II|Herpes simplex virus type 2 (HSV-2)|herpes simplex virus type 2 HSV-2|HSV2|Herpes simplex virus type 2 GC_ID:1 ncbi_taxonomy owl:Class UBERON:0006864 biolink:NamedThing distal metaphysis of femur tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013645 biolink:NamedThing autosomal recessive spinocerebellar ataxia 11 Any autosomal recessive syndromic cerebellar ataxia in which the cause of the disease is a mutation in the SYT14 gene. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 11|SCAR11|autosomal recessive cerebellar ataxia-psychomotor retardation syndrome|spinocerebellar ataxia, autosomal recessive type 11|autosomal recessive spinocerebellar ataxia 11|autosomal recessive spinocerebellar ataxia type 11|SYT14 autosomal recessive syndromic cerebellar ataxia|autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14 OMIM:614229|Orphanet:284271|ICD10:G11.1|UMLS:C3280226|DOID:0080063 owl:Class HGNC:23143 biolink:NamedThing SYT14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0037089 biolink:NamedThing wall of orbit tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100037 biolink:NamedThing juvenile onset pityriasis rubra pilaris A pityriasis rubra pilaris that has a juvenile onset. The peak incidence has a bimodal distribution, with the first peak at age six to seven yearss. The classical childhood-onset subtype of PRP usually develops in the late teenage years but may also be seen in the first few years of life. tmpaxzxjjyw_mondo_relaxed.owl juvenile onset PRP GARD:0007401 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3470 owl:Class HP:0003621 biolink:NamedThing Juvenile onset Onset of signs or symptoms of disease between the age of 5 and 15 years. tmpaxzxjjyw_mondo_relaxed.owl Signs and symptoms begin before 15 years of age UMLS:C4025588 HP:0003582|HP:0003670|HP:0003589|HP:0003625|HP:0003604|HP:0003578|HP:0003583|HP:0003659|HP:0003619|HP:0003580|HP:0003620|HP:0003661|HP:0003592 human_phenotype owl:Class UBERON:0010535 biolink:NamedThing primitive metanephric nephron tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002392 biolink:NamedThing nasolacrimal duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0100806 biolink:NamedThing Sepsis Systemic inflammatory response to infection. tmpaxzxjjyw_mondo_relaxed.owl Infection in blood stream UMLS:C0036690|MSH:D018805 doelkens 2011-06-09T01:05:51Z human_phenotype owl:Class UBERON:0002137 biolink:NamedThing aortic valve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015661 biolink:NamedThing dextrocardia A rare congenital abnormality in which the heart is located in the right side of the chest. It is associated with other congenital heart defects. tmpaxzxjjyw_mondo_relaxed.owl dextrocardia (disease)|heart predominantly in right hemithorax|dextrocardia dextrocardia (disease) NCIT:C84669|HP:0001651|Orphanet:1666|SCTID:27637000|GARD:0001827|ICD9:746.87|DOID:9565|ICD10:Q24.0|MESH:D003914|MedDRA:10012592 owl:Class MONDO:0021531 biolink:NamedThing fibroma of lung A fibroma that involves the lung. tmpaxzxjjyw_mondo_relaxed.owl lung fibroma|pulmonary fibroma|fibroma of the lung UMLS:C1334444|SCTID:707387004|NCIT:C5658 owl:Class GO:0048738 biolink:NamedThing cardiac muscle tissue development The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure. tmpaxzxjjyw_mondo_relaxed.owl heart muscle development owl:Class GO:0007507 biolink:NamedThing heart development The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. tmpaxzxjjyw_mondo_relaxed.owl dorsal vessel development|cardiac development owl:Class MONDO:0019168 biolink:NamedThing pyomyositis Pyomyositis (PM) is a rare primary bacterial infection of the skeletal muscle, usually resulting from hematogenous spread or due to muscle injury, and characterized by pain and tenderness in the affected muscle, fever and abscess formation. tmpaxzxjjyw_mondo_relaxed.owl myositis purulenta tropica|suppurative myositis|tropical pyomyositis|myositis tropicans|PM DOID:876|MESH:D052880|NCIT:C128382|ICD10:M60.0|GARD:0004614|ICD9:040.81|Orphanet:764|SCTID:65110003|EFO:1001409|MedDRA:10037652|UMLS:C1704275|UMLS:C0041188 https://rarediseases.info.nih.gov/diseases/4614/pyomyositis owl:Class MONDO:0000463 biolink:NamedThing Ochoa syndrome Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression. tmpaxzxjjyw_mondo_relaxed.owl urofacial Ochoa's syndrome|inverted smile-neurogenic bladder syndrome|UFS|inverted smile and occult neuropathic bladder|urofacial syndrome|Ochoa syndrome|hydronephrosis with peculiar facial expression|hydronephrosis-inverted smile syndrome|partial facial palsy with urinary abnormalities SCTID:236533008|OMIM:615112|MESH:C536480|ICD10:N31.8|DOID:0050816|GARD:0000104|OMIMPS:236730|Orphanet:2704|OMIM:236730 owl:Class MONDO:0014253 biolink:NamedThing autoimmune lymphoproliferative syndrome type 3 A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. tmpaxzxjjyw_mondo_relaxed.owl CVID9|immunodeficiency, common variable, 9|common variable immunodeficiency 9|type 3 ALPS|autoimmune lymphoproliferative syndrome, type III|ALPS3|PRKCD autoimmune lymphoproliferative syndrome|ALPS-U|immunodeficiency, common variable, 9, formerly|autoimmune lymphoproliferative syndrome type III|autoimmune lymphoproliferative syndrome, type 3|autoimmune lymphoproliferative syndrome-undetermined variant|autoimmune lymphoproliferative syndrome caused by mutation in PRKCD|type 3 autoimmune lymphoproliferative syndrome 2022-04-01 Orphanet:3261|ICD10:D47.9|UMLS:C1519711|DOID:0110119|OMIM:615559|UMLS:C3809928|NCIT:C39577 This will be obsoleted in the 2022-04-01 release. The term will be split and the new IDs for this term will be MONDO:800023 (Type 3 Autoimmune Lymphoproliferative Syndrome) and MONDO:800024 (autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD). owl:Class MONDO:0021629 biolink:NamedThing uterine ligament neoplasm A benign, borderline, or malignant neoplasm that affects the uterine ligaments. Representative examples include Wolffian adnexal tumor, papillary cystadenoma, and adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the uterine ligament|uterine ligament tumor|tumor of the uterine ligament|neoplasm of uterine ligament|uterine ligament neoplasm|tumor of uterine ligament|uterine ligament neoplasm (disease) UMLS:C1519870|NCIT:C40133 owl:Class GO:0007517 biolink:NamedThing muscle organ development The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003449 biolink:NamedThing tail intervertebral disc tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr4q biolink:NamedThing 4q (Human) tmpaxzxjjyw_mondo_relaxed.owl 190214555 50000000 hg38 owl:Class MONDO:0014450 biolink:NamedThing breasts and/or nipples, aplasia or hypoplasia of, 2 Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene. tmpaxzxjjyw_mondo_relaxed.owl isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF|breasts and/or nipples, aplasia or hypoplasia of, type 2|breasts and/or nipples, aplasia or hypoplasia of, 2|BNAH2|PTPRF isolated congenital breast hypoplasia/aplasia UMLS:C4014918|OMIM:616001|Orphanet:180188 owl:Class HGNC:9670 biolink:NamedThing PTPRF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012684 biolink:NamedThing arrhythmogenic right ventricular dysplasia 12 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the JUP gene. tmpaxzxjjyw_mondo_relaxed.owl familial arrhythmogenic right ventricular dysplasia 12|ARVD12|JUP familial isolated arrhythmogenic right ventricular dysplasia|arrhythmogenic right ventricular dysplasia, familial, 12|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP|arrhythmogenic right ventricular dysplasia, familial, type 12|arrhythmogenic right ventricular dysplasia 12|arrhythmogenic right ventricular cardiomyopathy 12|arrhythmogenic right ventricular dysplasia type 12|ARVC12 ICD10:I42.8|OMIM:611528|UMLS:C1969081|DOID:0110083|Orphanet:217656|MESH:C566925 owl:Class MONDO:0020712 biolink:NamedThing 46,XY sex reversal 1 tmpaxzxjjyw_mondo_relaxed.owl 46,XY true hermaphroditism, SRY-related|46,XY sex reversal type 1|46,XY gonadal dysgenesis, complete, SRY-related|46,XY sex reversal, SRY-related|SRXY1|46,XY sex reversal 1 DOID:0111778|OMIM:400044 owl:Class HGNC:11311 biolink:NamedThing SRY tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000977 biolink:NamedThing RNA polymerase II transcription regulatory region sequence-specific DNA binding Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II. tmpaxzxjjyw_mondo_relaxed.owl RNA polymerase II regulatory region DNA binding owl:Class FOODON:00001256 biolink:NamedThing dairy food product A dairy food product has mammilian milk or a milk component as an ingredient. tmpaxzxjjyw_mondo_relaxed.owl dairy product|milk product http://www.langual.org/langual_thesaurus.asp?termid=H0242 Damion Dooley owl:Class UBERON:0009676 biolink:NamedThing early telencephalic vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13887 biolink:NamedThing ABCG8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020163 biolink:NamedThing canthal anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98572 owl:Class CHEBI:37133 biolink:NamedThing barium molecular entity tmpaxzxjjyw_mondo_relaxed.owl barium compounds|barium molecular entities|barium molecular entity owl:Class UBERON:0003431 biolink:NamedThing leg nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021722 biolink:NamedThing vulvodynia Vulvodynia is a chronic pain syndrome that affects the vulvar area and occurs without an identifiable cause. Symptoms typically include a feeling of burning or irritation. For the diagnosis to be made symptoms must last at least 3 months. tmpaxzxjjyw_mondo_relaxed.owl vulvodynia SCTID:238968009|ICD9:625.70|MESH:D056650 owl:Class MONDO:0003626 biolink:NamedThing uterine ligament serous adenocarcinoma A rare serous adenocarcinoma that arises from the uterine ligament. tmpaxzxjjyw_mondo_relaxed.owl uterine ligament serous adenocarcinoma DOID:5747|UMLS:C1519872|NCIT:C40136 owl:Class MONDO:0006856 biolink:NamedThing mesothelial neoplasm A benign or malignant neoplasm arising from mesothelial cells. Mesothelial cells are the lining cells of the pleura and peritoneum. -- 2003 tmpaxzxjjyw_mondo_relaxed.owl mesothelial neoplasm|mesothelial tumor EFO:1001044|MESH:D018301|UMLS:C3714739|NCIT:C3786 owl:Class MONDO:0013834 biolink:NamedThing UV-sensitive syndrome 3 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene. tmpaxzxjjyw_mondo_relaxed.owl UV-sensitive syndrome 3|UV-sensitive syndrome type 3|UVSS3|UV-sensitive syndrome caused by mutation in UVSSA|UVSSA UV-sensitive syndrome Orphanet:178338|UMLS:C3553328|OMIM:614640 owl:Class HGNC:29304 biolink:NamedThing UVSSA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008133 biolink:NamedThing optic atrophy 3 tmpaxzxjjyw_mondo_relaxed.owl OPA3, autosomal dominant|optic atrophy, cataract, and neurologic disorder|optic atrophy and cataract, autosomal dominant|optic atrophy 3, autosomal dominant|optic atrophy 3|optic atrophy 3 with cataract|autosomal dominant optic atrophy type 3|OPA3 DOID:0111433|SCTID:719517009|UMLS:C1833809|Orphanet:67036|GARD:0010203|OMIM:165300|ICD10:H47.2|MESH:C537128 https://rarediseases.info.nih.gov/diseases/10203/autosomal-dominant-optic-atrophy-and-cataract owl:Class CHEBI:15440 biolink:NamedThing squalene A triterpene consisting of 2,6,10,15,19,23-hexamethyltetracosane having six double bonds at the 2-, 6-, 10-, 14-, 18- and 22-positions with (all-E)-configuration. tmpaxzxjjyw_mondo_relaxed.owl Squalene|Spinacene|Supraene|squalene|(6E,10E,14E,18E)-2,6,10,15,19,23-hexamethyltetracosa-2,6,10,14,18,22-hexaene|(all-E)-2,6,10,15,19,23-hexamethyl-2,6,10,14,18,22-tetracosahexaene owl:Class UBERON:0009715 biolink:NamedThing stomodeal lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004672 biolink:NamedThing protein kinase activity Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. tmpaxzxjjyw_mondo_relaxed.owl protamine kinase activity owl:Class UBERON:0005228 biolink:NamedThing upper arm epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003822 biolink:NamedThing forelimb stylopod tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012438 biolink:NamedThing pontocerebellar hypoplasia type 5 Pontocerebellar hypoplasia type 5 (PCH5) is a very rare severe form of PCH with prenatal onset and characterized by fetal onset of clonus or seizures-like activity persisting in infancy and microencephaly leading to early postnatal death. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. tmpaxzxjjyw_mondo_relaxed.owl olivopontocerebellar hypoplasia, fetal-onset|fetal-onset olivopontocerebellar hypoplasia|PCH5|pontocerebellar hypoplasia, type 5|olivopontocerebellar hypoplasia fetal-onset Orphanet:166068|MESH:C537745|GARD:0010709|SCTID:718607001|OMIM:610204|ICD10:Q04.3|DOID:0060274|UMLS:C1857762 https://rarediseases.info.nih.gov/diseases/10709/pontocerebellar-hypoplasia-type-5 owl:Class HGNC:9940 biolink:NamedThing RDH5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001558 biolink:NamedThing Decreased fetal movement An abnormal reduction in quantity or strength of fetal movements. tmpaxzxjjyw_mondo_relaxed.owl Decreased foetal activity|Reduced fetal movements|Decreased foetal movements|Reduced foetal movement|Less than 10 foetal movements in 12 hours|Decreased movement in utero|Decreased fetal movements|Less than 10 fetal movements in 12 hours|Decreased foetal movement|Decreased fetal activity|Fetal hypokinesia|Reduced foetal movements|Foetal hypokinesia|Reduced fetal movement SNOMEDCT_US:276369006|UMLS:C0235659 HP:0001559|HP:0007630|HP:0007631|HP:0006840 human_phenotype owl:Class MONDO:0014768 biolink:NamedThing cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene. tmpaxzxjjyw_mondo_relaxed.owl cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|CADASIL type 2|CADASIL caused by mutation in HTRA1|HTRA1 CADASIL|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2|CADASIL2|CADASIL 2 DOID:0111036|ICD10:F01.1|UMLS:C4225211|OMIM:616779 owl:Class UBERON:0002109 biolink:NamedThing pair of nares tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012249 biolink:NamedThing ectocervix tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003074 biolink:NamedThing Hyperglycemia An increased concentration of glucose in the blood. tmpaxzxjjyw_mondo_relaxed.owl High blood glucose|High blood sugar MSH:D006943|UMLS:C0020456|SNOMEDCT_US:237598005|SNOMEDCT_US:80394007 human_phenotype owl:Class MONDO:0003189 biolink:NamedThing middle ear adenocarcinoma A carcinoma that arises from glandular epithelial cells of the middle ear tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of the middle ear|middle Ear adenocarcinoma|adenocarcinoma of the middle Ear|adenocarcinoma of middle ear|middle ear adenocarcinoma|adenocarcinoma of middle Ear UMLS:C1334758|DOID:4892|NCIT:C6848 owl:Class MONDO:0011896 biolink:NamedThing Parkinson disease 11, autosomal dominant, susceptibility to Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene. tmpaxzxjjyw_mondo_relaxed.owl GIGYF2 hereditary late onset Parkinson disease|PARK11|susceptibility to autosomal dominant Parkinson disease 11|Parkinson disease 11, autosomal dominant, susceptibility to|hereditary late onset Parkinson disease caused by mutation in GIGYF2 Orphanet:411602|UMLS:C1843211|OMIM:607688|MESH:C564345 owl:Class GO:0071708 biolink:NamedThing immunoglobulin light chain V-J recombination The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). tmpaxzxjjyw_mondo_relaxed.owl immunoglobulin V(D)J joining|immunoglobulin V-J joining|immunoglobulin V(D)J recombination owl:Class MONDO:0011296 biolink:NamedThing Meckel syndrome, type 2 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene. tmpaxzxjjyw_mondo_relaxed.owl Meckel syndrome type 2|TMEM216 Meckel syndrome|Meckel-Gruber syndrome, type 2|Meckel syndrome, type 2|Meckel syndrome 2|MKS2|Meckel syndrome caused by mutation in TMEM216 DOID:0070116|MESH:C536131|UMLS:C1864148|Orphanet:564|OMIM:603194|ICD10:Q61.9|GARD:0008743 https://rarediseases.info.nih.gov/diseases/8743/meckel-syndrome-type-2 owl:Class MONDO:0019444 biolink:NamedThing Trichinellosis A zoonotic parasitic disease caused by the consumption of raw or undercooked meat (pork and wild game) infected by nematodes of the genus Trichinella and that is characterized by an enteral (intestinal) phase, that can be asymptomatic or that can manifests with diarrhea, nausea, vomiting and abdominal pain, and a parenteral (muscular) phase, manifesting with fever, periorbital edema, muscle swelling and pain, weakness, and in some cases, skin rash and peripheral edema. Rarely, potentially fatal cardiac (i.e. myocarditis), pulmonary (i.e. pneumonitis, respiratory failure), and nervous system (i.e. meningoencephalitis) complications may occur. tmpaxzxjjyw_mondo_relaxed.owl trichiniasis|trichinosis|infection with Trichinella|Human trichinellosis ICD10:B75|MESH:D014235|Orphanet:863|SCTID:709018004|MedDRA:10044608|GARD:0005250 owl:Class MONDO:0001540 biolink:NamedThing bagassosis An occupational lung disorder caused by inhalation of bagasse dust. In the acute phase, it manifests as cough, dyspnea, fever, chills, and weakness. Chronic exposure may lead to interstitial lung fibrosis. tmpaxzxjjyw_mondo_relaxed.owl extrinsic allergic alveolitis from bagasse|bagasse workers lung|sugar cane worker pneumonitis|bagasse extrinsic allergic alveolitis ICD10:J67.1|NCIT:C34409|UMLS:C0004681|ICD9:495.1|DOID:12522|SCTID:67242002 owl:Class CHEBI:33748 biolink:NamedThing nickel molecular entity tmpaxzxjjyw_mondo_relaxed.owl nickel molecular entities|nickel compounds|nickel molecular entity owl:Class MONDO:0010916 biolink:NamedThing polycystic kidney disease 3 with or without polycystic liver disease Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene. tmpaxzxjjyw_mondo_relaxed.owl polycystic kidney disease 3|polycystic kidney disease type 3|PKD3|polycystic kidney disease, adult, type III|polycystic kidney disease, type 3|polycystic kidney disease 3 with or without polycystic liver disease|GANAB autosomal dominant polycystic kidney disease|Pkd3|polycystic kidney disease 3, autosomal dominant|polycystic kidney disease, adult, type 3|autosomal dominant polycystic kidney disease caused by mutation in GANAB|Apkd3 UMLS:C3887964|Orphanet:730|DOID:0110860|OMIM:600666 owl:Class MONDO:0011091 biolink:NamedThing Charcot-Marie-Tooth disease type 2D Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease neuronal type 2D|autosomal dominant Charcot-Marie-Tooth disease type 2D|Charcot-Marie-Tooth neuropathy, type 2D|Charcot-Marie-Tooth disease type 2 caused by mutation in GARS|Charcot-Marie-Tooth disease, neuronal, type 2D|Charcot-Marie-Tooth disease, axonal, type 2D|CMT2D|CMT 2D|Charcot-Marie-Tooth neuropathy type 2D|GARS Charcot-Marie-Tooth disease type 2|Charcot Marie Tooth disease type 2D NCIT:C122659|GARD:0001251|SCTID:717011006|ICD10:G60.0|DOID:0110164|OMIM:601472|Orphanet:99938|UMLS:C1832274|MESH:C537993|UMLS:C4274109 https://rarediseases.info.nih.gov/diseases/1251/charcot-marie-tooth-disease-type-2d owl:Class PATO:0000964 biolink:NamedThing transparent A optical quality inhering in a bearer by virtue of the bearer's lacking opacity. tmpaxzxjjyw_mondo_relaxed.owl hyaline|clear owl:Class MONDO:0011738 biolink:NamedThing bilateral frontoparietal polymicrogyria Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus. tmpaxzxjjyw_mondo_relaxed.owl BFPP|polymicrogyria, bilateral frontoparietal|bilateral frontoparietal polymicrogyria|cerebellar ataxia with neuronal migration defect MESH:C564652|UMLS:C1847352|Orphanet:101070|ICD10:Q04.3|NCIT:C148367|OMIM:606854|GARD:0010784|Orphanet:268940 https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria owl:Class HGNC:4512 biolink:NamedThing ADGRG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009098 biolink:NamedThing gravid uterus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014518 biolink:NamedThing platelet-type bleeding disorder 19 Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene. tmpaxzxjjyw_mondo_relaxed.owl bleeding disorder, platelet-type, 19|BDPLT19|isolated hereditary giant platelet disorder caused by mutation in PRKACG|PRKACG isolated hereditary giant platelet disorder|severe autosomal recessive macrothrombocytopenia OMIM:616176|DOID:0111048|Orphanet:438207|UMLS:C4015405|ICD10:D69.4 owl:Class HGNC:9382 biolink:NamedThing PRKACG tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:137982 biolink:NamedThing tertiary ammonium ion An organic cation obtained by protonation of the amino group of any tertiary amino compound. tmpaxzxjjyw_mondo_relaxed.owl a tertiary amine|tertiary amine(1+)|tertiary ammonium ions owl:Class CL:0000255 biolink:NamedThing eukaryotic cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0100082 biolink:NamedThing LEOPARD syndrome 1 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24. tmpaxzxjjyw_mondo_relaxed.owl multiple lentigines syndrome|LEOPARD syndrome 1|LEOPARD syndrome type 1|lentiginosis, cardiomyopathic|LPRD1 DOID:0080548|OMIM:151100 owl:Class CL:0002431 biolink:NamedThing CD4-positive, CD8-intermediate double-positive thymocyte A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD8 co-receptor. tmpaxzxjjyw_mondo_relaxed.owl T.4int8+.th tmeehan 2010-10-21T02:29:23Z cell owl:Class MONDO:0001606 biolink:NamedThing central nervous system leukemia Leukemia infiltrating the central nervous system structures. tmpaxzxjjyw_mondo_relaxed.owl central nervous system leukemia|leukemia of CNS|leukemia of the central nervous system|central nervous system leukemia (disease)|CNS leukemia|leukemia of the CNS|leukemia of central nervous system|leukemia (disease) of central nervous system DOID:12969|NCIT:C5440|UMLS:C1332884 owl:Class GO:0002440 biolink:NamedThing production of molecular mediator of immune response The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. tmpaxzxjjyw_mondo_relaxed.owl production of cellular mediator of immune response owl:Class GO:1902262 biolink:NamedThing apoptotic process involved in blood vessel morphogenesis Any apoptotic process that is involved in blood vessel morphogenesis. tmpaxzxjjyw_mondo_relaxed.owl programmed cell death by apoptosis involved in patterning of blood vessels|signaling (initiator) caspase activity involved in patterning of blood vessels|apoptotic program involved in patterning of blood vessels|apoptosis involved in patterning of blood vessels|type I programmed cell death involved in patterning of blood vessels|apoptotic cell death involved in patterning of blood vessels|apoptotic programmed cell death involved in patterning of blood vessels owl:Class UBERON:0010698 biolink:NamedThing manual digit metacarpus pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013723 biolink:NamedThing bacteremia, susceptibility to, 1 Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene. tmpaxzxjjyw_mondo_relaxed.owl BACTS1|TIRAP bacteremia, susceptibility|bacteremia, susceptibility to, 1|bacteremia, resistance to|bacteremia, susceptibility caused by mutation in TIRAP|bacteremia, susceptibility to, type 1 OMIM:614382 owl:Class NCBITaxon:6183 biolink:NamedThing Schistosoma mansoni tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013223 biolink:NamedThing autosomal recessive spondylometaphyseal dysplasia, Megarbane type Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene. tmpaxzxjjyw_mondo_relaxed.owl spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type|chondrodysplasia, Megarbane-Dagher-Melki type|autosomal recessive spondylometaphyseal dysplasia, Mégarbané type|PAM16 spondylodysplastic dysplasia|spondylodysplastic dysplasia caused by mutation in PAM16|SMDMDM ICD10:Q77.8|OMIM:613320|MESH:C567644|Orphanet:401979|UMLS:C2750075 owl:Class GO:0035229 biolink:NamedThing positive regulation of glutamate-cysteine ligase activity Any process that activates or increases the activity of glutamate-cysteine ligase, typically by lowering its sensitivity to inhibition by glutathione and by increasing its affinity for glutamate. tmpaxzxjjyw_mondo_relaxed.owl activation of glutamate-cysteine ligase activity|upregulation of glutamate-cysteine ligase activity|stimulation of glutamate-cysteine ligase activity|up regulation of glutamate-cysteine ligase activity|up-regulation of glutamate-cysteine ligase activity owl:Class HGNC:7216 biolink:NamedThing MPI tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004259 biolink:NamedThing endocervical carcinoma A carcinoma that arises from epithelial cells of the endocervix. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of endocervix|carcinoma of the endocervix|endocervical carcinoma|endocervix carcinoma|endocervical adenocarcinoma|endocervical cancer SCTID:372098004|DOID:7519|NCIT:C28327|UMLS:C1299237 owl:Class MONDO:0009239 biolink:NamedThing hypogonadotropic hypogonadism 24 without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene. tmpaxzxjjyw_mondo_relaxed.owl follicle-stimulating hormone deficiency, isolated|FSHB hypogonadotropic hypogonadism|isolated follicle-stimulating hormone deficiency|isolated follicle-stimulating hormone (FSH) deficiency|isolated follicle stimulating hormone deficiency|isolated FSH deficiency|hypogonadotropic hypogonadism caused by mutation in FSHB|hypogonadotropic hypogonadism 24 without anosmia|HH24 DOID:0090088|OMIM:229070|GARD:0010128|Orphanet:52901|ICD10:E23.6|SCTID:758664007|MESH:C537070|UMLS:C1856716 owl:Class UBERON:0000361 biolink:NamedThing red bone marrow tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006282 biolink:NamedThing lymphangiosarcoma A malignant neoplasm arising from the endothelial cells of the lymphatic vessels. tmpaxzxjjyw_mondo_relaxed.owl lymphangiosarcoma|malignant lymphangioendothelioma|Stewart-Treves syndrome|lymphangiosarcoma, malignant|lymphangioendothelial sarcoma|lymphangiosarcoma of Stewart and Treves NCIT:C3205|SCTID:62497000|ICD9:171.9|UMLS:C0024224|EFO:1000339|MESH:D008204|UMLS:C0346082|SCTID:403986008|DOID:2689|ICDO:9170/3 owl:Class UBERON:0001469 biolink:NamedThing sternoclavicular joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013145 biolink:NamedThing Brugada syndrome 6 Any Brugada syndrome in which the cause of the disease is a mutation in the KCNE3 gene. tmpaxzxjjyw_mondo_relaxed.owl BRGDA6|KCNE3 Brugada syndrome|Brugada syndrome type 6|Brugada syndrome 6|Brugada syndrome caused by mutation in KCNE3 Orphanet:130|DOID:0110223|MESH:C567735|UMLS:C2751089|OMIM:613119|ICD10:I49.8 owl:Class HGNC:6243 biolink:NamedThing KCNE3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005619 biolink:NamedThing secondary palatal shelf tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:47 biolink:NamedThing ABCB6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:5864 biolink:NamedThing Babesia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0035267 biolink:NamedThing neck of gallbladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009478 biolink:NamedThing combined immunodeficiency due to DOCK8 deficiency Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE). tmpaxzxjjyw_mondo_relaxed.owl DOCK8 deficiency|combined immunodeficiency due to DOCK8 deficiency|AR hyperimmunoglobulin E syndrome|DOCK8 immunodeficiency syndrome|autosomal recessive hyper IgE syndrome|hyper Ig E syndrome, autosomal recessive|hyper-IgE recurrent infection syndrome, autosomal recessive|combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency|HIES, autosomal recessive|AR-HIES|hyper-IgE syndrome, autosomal recessive|Cid due to DOCK8 deficiency|hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive|dedicator of cytokinesis 8 deficiency|HIES autosomal recessive OMIM:243700|GARD:0002816|ICD10:D81.1|NCIT:C126343|UMLS:C1968689|Orphanet:217390 https://rarediseases.info.nih.gov/diseases/2816/autosomal-recessive-hyper-ige-syndrome owl:Class HGNC:19191 biolink:NamedThing DOCK8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18060 biolink:NamedThing ARX tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035818 biolink:NamedThing visceral fat tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001803 biolink:NamedThing regulation of type III hypersensitivity Any process that modulates the frequency, rate, or extent of type III hypersensitivity, a type of inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0100324 biolink:NamedThing Scleroderma A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. tmpaxzxjjyw_mondo_relaxed.owl Pseudoscleroderma|Progressive systemic scleroderma UMLS:C0011644|SNOMEDCT_US:403524003|MSH:D012594|SNOMEDCT_US:89155008|UMLS:C1274865 A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies. Sclerosis of the skin occurs in association with disorders as diverse as dermatomyositis, Werner's syndrome, porphyria, muscle glycogenesis, primary systemic amyloidosis, melorheostosis, and malignancy including the carcinoid syndrome. This term is intended to represent the phenotypic feature scleroderma rather than a particular disease. doelkens 2010-08-10T04:14:42Z HP:0001594|HP:0007426 human_phenotype owl:Class UBERON:0003532 biolink:NamedThing hindlimb skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003664 biolink:NamedThing manual digit muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007828 biolink:NamedThing girdle bone/zone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004805 biolink:NamedThing seminal vesicle epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009749 biolink:NamedThing limb mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7605 biolink:NamedThing MYO6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8636 biolink:NamedThing PC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013217 biolink:NamedThing Diamond-Blackfan anemia 10 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS26 gene. tmpaxzxjjyw_mondo_relaxed.owl RPS26 Diamond-Blackfan anemia|Diamond-Blackfan Anemia type 10|Diamond-Blackfan anemia 10|DBA10|Diamond-Blackfan anemia caused by mutation in RPS26 UMLS:C2750080|MESH:C567649|OMIM:613309 owl:Class HGNC:10414 biolink:NamedThing RPS26 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3775 biolink:NamedThing FMR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016458 biolink:NamedThing esophageal hiatus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007829 biolink:NamedThing pectoral girdle bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042552 biolink:NamedThing myelination The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. tmpaxzxjjyw_mondo_relaxed.owl myelinogenesis owl:Class HGNC:10596 biolink:NamedThing SCN8A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002576 biolink:NamedThing embryonal extrahepatic bile duct rhabdomyosarcoma An embryonal rhabdomyosarcoma that arises from the extrahepatic bile ducts. tmpaxzxjjyw_mondo_relaxed.owl extrahepatic bile duct embryonal rhabdomyosarcoma (disease)|extrahepatic bile duct embryonal rhabdomyosarcoma|embryonal rhabdomyosarcoma of the extrahepatic bile duct|embryonal rhabdomyosarcoma of extrahepatic bile duct|embryonal rhabdomyosarcoma (disease) of extrahepatic bile duct|embryonal extrahepatic bile duct rhabdomyosarcoma DOID:3253|NCIT:C5847|UMLS:C1333505 owl:Class HP:0001888 biolink:NamedThing Lymphopenia A reduced number of lymphocytes in the blood. tmpaxzxjjyw_mondo_relaxed.owl Decreased blood lymphocyte number|Low lymphocyte number|Lymphocytopenia|Absolute lymphocyte count decrease MSH:D008231|UMLS:C0024312|SNOMEDCT_US:48813009 human_phenotype owl:Class UBERON:0005268 biolink:NamedThing renal cortex artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001419 biolink:NamedThing trachea squamous cell carcinoma A rare squamous cell carcinoma that arises from the mucosal lining of the trachea. It usually grows as an intraluminal mass and later invades extraluminal structures. The majority of patients present with hemoptysis, coughing, dyspnea, or stridor. tmpaxzxjjyw_mondo_relaxed.owl epidermoid carcinoma of the trachea|epidermoid carcinoma of trachea|squamous cell carcinoma of the trachea|squamous cell carcinoma of trachea|tracheal squamous cell carcinoma|trachea epidermoid carcinoma|tracheal epidermoid carcinoma|trachea squamous cell carcinoma UMLS:C0345946|EFO:1000600|DOID:12003|NCIT:C4448|SCTID:254620000 owl:Class MONDO:0020545 biolink:NamedThing staphylococcal toxic-shock syndrome Staphylococcal toxic shock syndrome (staphylococcal TSS) is an acute disease mediated by the production of superantigenic toxins, characterized by high fever, skin rash followed by skin peeling, hypotension, vomiting, diarrhea and potentially leading to multisystem organ failure and caused by a Staphylococcus aureus bacterial infection. tmpaxzxjjyw_mondo_relaxed.owl Staphylococcus caused toxic shock syndrome|staphylococcal TSS|Staphylococcus toxic shock syndrome MedDRA:10044250|ICD9:040.89|SCTID:240450004|Orphanet:99919|ICD10:A48.3 owl:Class MONDO:0010201 biolink:NamedThing Winchester syndrome tmpaxzxjjyw_mondo_relaxed.owl Torg Winchester syndrome|Al-Qeel Sewairi syndrome|WNCHRS|Winchester-Grossman syndrome|Winchester syndrome|multicentric osteolysis, nodulosis and arthropathy|nodulosis arthropathy osteolysis syndrome|NOA syndrome GARD:0007894|SCTID:254151006|UMLS:CN204453|ICD9:733.29|OMIM:277950 Editor note: check relationship to parent owl:Class HGNC:7160 biolink:NamedThing MMP14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007490 biolink:NamedThing keratin-based acellular structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014373 biolink:NamedThing nephrotic syndrome, type 10 Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene. tmpaxzxjjyw_mondo_relaxed.owl nephrotic syndrome caused by mutation in EMP2|NPHS10|nephrotic syndrome, type 10|EMP2 nephrotic syndrome DOID:0080386|Orphanet:69061|OMIM:615861|UMLS:C4014507|Orphanet:656 owl:Class UBERON:0004871 biolink:NamedThing somatic layer of lateral plate mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:214035 biolink:NamedThing Tunga penetrans tmpaxzxjjyw_mondo_relaxed.owl chigger|chigoe flea GC_ID:1 ncbi_taxonomy owl:Class HP:0002145 biolink:NamedThing Frontotemporal dementia A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0338451|MSH:D057180|SNOMEDCT_US:230270009 human_phenotype owl:Class MONDO:0007014 biolink:NamedThing vibrio infectious disease Infections with bacteria of the genus vibrio. tmpaxzxjjyw_mondo_relaxed.owl Vibrio infectious disease|Vibrio caused disease or disorder|Vibrio disease or disorder|vibrio infectious disease EFO:1001235|UMLS:C0042636|MESH:D014735 owl:Class NBO:0000347 biolink:NamedThing gross motor coordination "The coordination of large muscle groups and whole body movement." [NBO:GVG] tmpaxzxjjyw_mondo_relaxed.owl whole body coordination|large muscle coordination owl:Class MONDO:0012525 biolink:NamedThing Leber congenital amaurosis 12 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RD3 gene. tmpaxzxjjyw_mondo_relaxed.owl Leber congenital amaurosis caused by mutation in RD3|Leber congenital amaurosis 12|RD3 Leber congenital amaurosis|LCA12|Leber congenital amaurosis type 12|amaurosis congenita of Leber, type 12 DOID:0110080|MESH:C565697|OMIM:610612|ICD10:H35.5|GARD:0010489 https://rarediseases.info.nih.gov/diseases/10489/leber-congenital-amaurosis-12 owl:Class HGNC:19689 biolink:NamedThing RD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011878 biolink:NamedThing muscle layer of esophagus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001096 biolink:NamedThing wall of esophagus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042470 biolink:NamedThing melanosome A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004468 biolink:NamedThing anal canal Paget disease Paget disease involving the squamous epithelium of the anal canal. tmpaxzxjjyw_mondo_relaxed.owl anal canal Paget's disease|anal canal Paget disease|Paget's disease of anal canal|anal canal mammary Paget's disease|Paget's disease of the anal canal|Paget disease of the anal canal NCIT:C7477|SCTID:236811000119101|UMLS:C1332261|DOID:8119 owl:Class CHEBI:48854 biolink:NamedThing sulfurous acid tmpaxzxjjyw_mondo_relaxed.owl dihydroxidooxidosulfur|acide sulfureux|S(O)(OH)2|sulphurous acid|trioxosulfuric acid|acido sulfuroso|[SO(OH)2]|schweflige Saeure|H2SO3|dihydrogen trioxosulfate|Sulfite|Sulfurous acid|sulfurous acid owl:Class PATO:0002507 biolink:NamedThing keratinous A composition quality inhering in a bearer by virtue of the bearer's consisting of keratin. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016867 biolink:NamedThing partial deletion of chromosome 2 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 2|partial deletion of chromosome type 2 Orphanet:261771|ICD10:Q93.5 owl:Class UBERON:0004982 biolink:NamedThing mucosa of epiglottis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044323 biolink:NamedThing Rahman syndrome Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by {1:Tatton-Brown et al., 2017}). tmpaxzxjjyw_mondo_relaxed.owl RMNS|Rahman syndrome UMLS:C4479637|OMIM:617537 owl:Class GO:1901019 biolink:NamedThing regulation of calcium ion transmembrane transporter activity Any process that modulates the frequency, rate or extent of calcium ion transmembrane transporter activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016477 biolink:NamedThing Beckwith-Wiedemann syndrome due to 11p15 microdeletion tmpaxzxjjyw_mondo_relaxed.owl Orphanet:231127|ICD10:Q87.3|UMLS:CN201472 owl:Class ENVO:09200013 biolink:NamedThing wetness of soil The wetness of some soil. tmpaxzxjjyw_mondo_relaxed.owl soil wetness owl:Class UBERON:0011096 biolink:NamedThing lacrimal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33302 biolink:NamedThing pnictogen molecular entity A p-block molecular entity containing any pnictogen. tmpaxzxjjyw_mondo_relaxed.owl pnictogen molecular entity|pnictogen molecular entities owl:Class CHEBI:33300 biolink:NamedThing pnictogen Any p-block element atom that is in group 15 of the periodic table: nitrogen, phosphorus, arsenic, antimony and bismuth. tmpaxzxjjyw_mondo_relaxed.owl nitrogenoides|group V elements|nitrogenoideos|pnictogenes|pnictogene|group 15 elements|pnictogens owl:Class MONDO:0018963 biolink:NamedThing hereditary methemoglobinemia Methemoglobinemia inherited in an autosomal recessive pattern. It is caused by deficiency of the enzyme NADH methemoglobin reductase or the presence of abnormal hemoglobin M. It presents with cyanosis early in life. There is no evidence of cardiopulmonary disease present. tmpaxzxjjyw_mondo_relaxed.owl congenital methemoglobinemia|hereditary methemoglobinemia|autosomal recessive methemoglobinemia OMIM:250790|Orphanet:621|OMIM:250700|SCTID:267550008|GARD:0002659|UMLS:C0272087|ICD10:D74.0|OMIM:250800|NCIT:C98898|MESH:C580280 owl:Class UBERON:0005020 biolink:NamedThing mucosa of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009077 biolink:NamedThing deafness, congenital, and familial myoclonic epilepsy tmpaxzxjjyw_mondo_relaxed.owl deafness, congenital, and familial myoclonic epilepsy UMLS:C1857348|OMIM:220300|MESH:C565649 owl:Class NCBITaxon:37816 biolink:NamedThing Rickettsia honei tmpaxzxjjyw_mondo_relaxed.owl Flinders Island spotted fever rickettsia|Thai tick typhus rickettsia GC_ID:11|PMID:9828442|PMID:8735110 NCBITaxon:45259 ncbi_taxonomy owl:Class GO:0097711 biolink:NamedThing ciliary basal body-plasma membrane docking The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl ciliary basal body docking|anchoring of the basal body to the plasma membrane owl:Class MONDO:0013859 biolink:NamedThing cataract 38 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene. tmpaxzxjjyw_mondo_relaxed.owl AGK early-onset non-syndromic cataract|CTRCT38|cataract type 38|CATC5|cataract 38|autosomal recessive congenital cataract 5|cataract, autosomal recessive congenital 5|early-onset non-syndromic cataract caused by mutation in AGK OMIM:614691|DOID:0110245|Orphanet:91492|UMLS:C3553494|ICD10:Q12.0 owl:Class HGNC:21869 biolink:NamedThing AGK tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16287 biolink:NamedThing NFU1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18348 biolink:NamedThing TICAM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011377 biolink:NamedThing long QT syndrome 3 An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. tmpaxzxjjyw_mondo_relaxed.owl long QT syndrome 2/3, digenic|long QT syndrome caused by mutation in SCN5A|SCN5A long QT syndrome|long QT syndrome type 3|long QT syndrome 3|long QT syndrome 3, acquired, susceptibility to|long QT syndrome 3/6, digenic|LQT3 UMLS:C2931401|UMLS:C1859062|ICD10:I45.8|Orphanet:101016|OMIM:603830|MESH:C565840|Orphanet:768|NCIT:C137959|GARD:0003286|DOID:0110646 https://rarediseases.info.nih.gov/diseases/3286/long-qt-syndrome-3 owl:Class MONDO:0013604 biolink:NamedThing myopia 21, autosomal dominant Any myopia (disease) in which the cause of the disease is a mutation in the ZNF644 gene. tmpaxzxjjyw_mondo_relaxed.owl MYP21|myopia (disease) caused by mutation in ZNF644|myopia 21, autosomal dominant|ZNF644 myopia (disease) UMLS:C3279997|OMIM:614167 owl:Class HGNC:29222 biolink:NamedThing ZNF644 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr6 biolink:NamedThing chromosome 6 (Human) tmpaxzxjjyw_mondo_relaxed.owl 6 170805979 0 hg38 owl:Class MONDO:0100195 biolink:NamedThing X-linked intellectual disability with hypopituitarism An X-linked intellectual disability in which the cause of the disease is a mutation in the SOX3 gene, with variable phenotypes including growth hormone deficiency due to hypopituitarism. It is undetermined if SOX3 is the only gene associated with this disease. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0004079 biolink:NamedThing lung mucous gland adenoma A benign adenomatous neoplasm that arises from the mucous glands in the bronchus. tmpaxzxjjyw_mondo_relaxed.owl adenoma of the bronchial mucous gland|adenoma of bronchial mucus gland|adenoma of bronchial mucous gland|adenoma of the bronchial mucus gland|lung polyadenoma|bronchial cystadenoma|lung mucous gland adenoma|bronchial mucus gland adenoma UMLS:C1332640|NCIT:C5664|DOID:7030 owl:Class OBO:CHR_9606-chr9 biolink:NamedThing chromosome 9 (Human) tmpaxzxjjyw_mondo_relaxed.owl 9 138394717 0 hg38 owl:Class MONDO:0010631 biolink:NamedThing incontinentia pigmenti Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS). tmpaxzxjjyw_mondo_relaxed.owl Incontinentia pigmenti type 2 (formerly)|IP2 (formerly)|Bloch-Sulzberger syndrome|IP|Incontinentia pigmenti, type II|Incontinentia pigmenti syndrome|Incontinentia pigmenti, familial Male-lethal type|incontinentia pigmenti|Incontinentia pigmenti, type II, formerly|Bloch-Siemens syndrome UMLS:C0021171|MESH:D007184|Orphanet:464|NCIT:C84787|EFO:1000672|GARD:0006778|ICD10:Q82.3|OMIM:308300|Wikipedia:Incongenita_pigmenti|DOID:12305|SCTID:367520004 owl:Class HP:0002227 biolink:NamedThing White eyelashes White color (lack of pigmentation) of the eyelashes. tmpaxzxjjyw_mondo_relaxed.owl Pale eyelashes|Grey eyelashes|Blonde eyelashes|White eyelashes|Depigmented eyelashes UMLS:C1836736|UMLS:C4280578 human_phenotype owl:Class NCBITaxon:194 biolink:NamedThing Campylobacter tmpaxzxjjyw_mondo_relaxed.owl PMID:11542086|PMID:1704793|PMID:19801389|PMID:12361288|PMID:29034857|GC_ID:11|PMID:16627635 ncbi_taxonomy owl:Class NCBITaxon:12730 biolink:NamedThing Human respirovirus 1 tmpaxzxjjyw_mondo_relaxed.owl HPIV1|Human parainfluenza virus type 1|Parainfluenza virus type 1|human parainfluenza virus type 1 hPIV1|human parainfluenza virus|Human parainfluenza virus 1|human parainfluenza virus type 1 HPIV-1|HPIV-1|Human parainfluenza 1 virus GC_ID:1 NCBITaxon:11209 ncbi_taxonomy owl:Class UBERON:0005729 biolink:NamedThing pectoral appendage field tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2593 biolink:NamedThing CYP17A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007080 biolink:NamedThing glucocorticoid-remediable aldosteronism Familial hyperaldosteronism type I (FH-I) is a rare heritable, glucocorticoid remediable form of primary aldosteronism (PA) characterized by early-onset hypertension, hyperaldosteronism, variable hypokalemia, low plasma renin activity (PRA), and abnormal production of 18-oxocortisol and 18-hydroxycortisol. tmpaxzxjjyw_mondo_relaxed.owl FH-I|hyperaldosteronism, familial type 1|glucocorticoid-remediable aldosteronism|glucocorticoid-suppressible hyperaldosteronism|familial hyperaldosteronism type I|hyperaldosteronism, familial, type 1|dexamethasone-sensitive hypertension|HALD1|glucocorticoid-sensitive hypertension|ACTH-dependent hyperaldosteronism syndrome|familial hyperaldosteronism type 1|FH 1|glucocorticoid sensitive hypertension|GRA|dexamethasone sensitive hypertension|FH1|aldosteronism, sensitive to dexamethasone|hyperaldosteronism, familial, type I ICD10:E26.0|DOID:14080|Orphanet:403|UMLS:C1260386|NCIT:C123248|GARD:0002790|UMLS:C3838731|MESH:C563177|ICD9:255.11|OMIM:103900|ICD10:E26.02 https://rarediseases.info.nih.gov/diseases/2790/glucocorticoid-remediable-aldosteronism owl:Class HGNC:2591 biolink:NamedThing CYP11B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000064 biolink:NamedThing ovarian surface epithelial cell Any epithelial cell that is part of a female gonad. tmpaxzxjjyw_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7310 TermGenie 2014-10-07T17:59:13Z cell owl:Class MONDO:0550003 biolink:NamedThing SEC61B-related polycystic liver disease Any autosomal dominant polycystic liver disease in which the cause of the disease is a mutation in the SEC61B gene. tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/1882 owl:Class MONDO:0012924 biolink:NamedThing Diamond-Blackfan anemia 4 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS17 gene. tmpaxzxjjyw_mondo_relaxed.owl RPS17 Diamond-Blackfan anemia|DBA4|Diamond-Blackfan anemia 4|Diamond-Blackfan Anemia type 4|Diamond-Blackfan anemia caused by mutation in RPS17 OMIM:612527|UMLS:C2675860|MESH:C567281 owl:Class HGNC:10397 biolink:NamedThing RPS17 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045260 biolink:NamedThing plasma membrane proton-transporting ATP synthase complex A proton-transporting ATP synthase complex found in the plasma membrane. Examples of this component are found in Bacterial species. tmpaxzxjjyw_mondo_relaxed.owl hydrogen-transporting ATP synthase|proton-transporting ATP synthase complex|hydrogen-translocating F-type ATPase complex|plasma membrane hydrogen-translocating F-type ATPase complex owl:Class MONDO:0012827 biolink:NamedThing scoliosis, isolated, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl scoliosis, isolated, susceptibility to, 5|IS5 OMIM:612239 owl:Class MONDO:0017181 biolink:NamedThing hypnic headache Conditions in which the primary symptom is headache and the headache cannot be attributed to any known causes. tmpaxzxjjyw_mondo_relaxed.owl hypnic headache (disease)|hypnic headache hypnic headache (disease) GARD:0010796|Orphanet:276429|HP:0012459|MESH:D051270|ICD10:G44.8|SCTID:122711000119109|ICD9:339.81 owl:Class UBERON:0004348 biolink:NamedThing optic eminence tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:50630 biolink:NamedThing cyclooxygenase 1 inhibitor A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 1. tmpaxzxjjyw_mondo_relaxed.owl PTGS1 inhibitor|prostaglandin-endoperoxide synthase 1 inhibitor|cyclooxygenase-1 inhibitor|cyclo-oxygenase 1 inhibitor|prostaglandin H2 synthase 1 inhibitor|prostaglandin G/H synthase 1 inhibitors|prostaglandin H2 synthase 1 inhibitors|PTGS1 inhibitors|COX-1 inhibitors|cyclo-oxygenase 1 inhibitors|prostaglandin-endoperoxide synthase 1 inhibitors|prostaglandin G/H synthase 1 inhibitor|cyclooxygenase 1 inhibitors|cyclooxygenase-1 inhibitors|COX-1 inhibitor owl:Class MONDO:0016812 biolink:NamedThing dopa-responsive dystonia Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency. tmpaxzxjjyw_mondo_relaxed.owl dopa-responsive dystonia|hereditary progressive dystonia with diurnal fluctuation|DYT-SPR (subtype)|HPD with diurnal fluctuation|DYT5|DYT-GCH1 (subtype)|DYT-TH (subtype)|DYT5 dystonia|Segawa's disease MESH:C538007|ICD10:G24.8|Orphanet:255|UMLS:C1851920|GARD:0009817|SCTID:230332007|NCIT:C116719 owl:Class MONDO:0008061 biolink:NamedThing nail-patella syndrome A rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. tmpaxzxjjyw_mondo_relaxed.owl arthro-onychodysplasia|nail-patella syndrome|Turner-Kieser syndrome|Turner-Kiser syndrome|onychoosteodysplasia|Fong disease|NPS|hereditary Osteo-onychodysplasia|NPS 1|iliac horn syndrome|osteo-onychodysplasia|nail patella syndrome|NPS1|hereditary onychoostedysplasia ICD10:Q87.2|MESH:D009261|NCIT:C75120|DOID:9467|UMLS:C0027341|GARD:0007160|OMIM:161200|ICD9:759.89|Orphanet:2614|MedDRA:10063431|SCTID:22199006 https://rarediseases.info.nih.gov/diseases/7160/nail-patella-syndrome owl:Class MONDO:0015010 biolink:NamedThing atypical glycine encephalopathy Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE. tmpaxzxjjyw_mondo_relaxed.owl GLYCINE encephalopathy with normal serum GLYCINE|atypical non-ketotic hyperglycinemia|Glycine encephalopathy with normal serum Glycine|atypical NKA UMLS:C4310943|Orphanet:289863|OMIM:617301|ICD10:E72.5 owl:Class HGNC:11056 biolink:NamedThing SLC6A9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0008035 biolink:NamedThing Retinitis pigmentosa inversa Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery). tmpaxzxjjyw_mondo_relaxed.owl Central retinitis pigmentosa UMLS:C4021559 HP:0008506 human_phenotype owl:Class HGNC:10597 biolink:NamedThing SCN9A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005204 biolink:NamedThing larynx submucosa gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004778 biolink:NamedThing larynx submucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1985 biolink:NamedThing CIT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009007 biolink:NamedThing Jalili syndrome Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD). tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy amelogenesis imperfecta|Jalili syndrome|cone-rod dystrophy with amelogenesis imperfecta|cone rod dystrophy-amelogenesis imperfecta syndrome|cone-rod dystrophy and amelogenesis imperfecta UMLS:C3495589|ICD9:362.75|ICD10:H35.5|DOID:0111404|OMIM:217080|UMLS:CN200616|SCTID:707608003|Orphanet:1873|GARD:0001463|ICD9:520.5|MESH:C000596385 https://rarediseases.info.nih.gov/diseases/1463/cone-rod-dystrophy-amelogenesis-imperfecta owl:Class UBERON:0001479 biolink:NamedThing sesamoid bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007281 biolink:NamedThing presumptive midbrain hindbrain boundary tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013573 biolink:NamedThing cranioectodermal dysplasia 3 Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene. tmpaxzxjjyw_mondo_relaxed.owl cranioectodermal dysplasia 3|IFT43 cranioectodermal dysplasia|CED3|CRANIOECTODERMAL dysplasia 3|Cranioectodermal dysplasia type 3|cranioectodermal dysplasia caused by mutation in IFT43 OMIM:614099|UMLS:C3279807|Orphanet:1515 owl:Class HGNC:29669 biolink:NamedThing IFT43 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011234 biolink:NamedThing fibrous membrane of synovial tendon sheath tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4510 biolink:NamedThing KISS1R tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:924 biolink:NamedThing B4GALT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013883 biolink:NamedThing congenital myasthenic syndrome 13 Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital myasthenic syndrome type 13|myasthenic syndrome, congenital, type 13|congenital myasthenic syndrome 13 with tubular aggregates|CMSTA2|myasthenic syndrome, congenital, 13|congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1|congenital myasthenic syndrome with tubular aggregates 2|DPAGT1 congenital myasthenic syndromes with glycosylation defect|myasthenic syndrome, congenital, with tubular aggregates 2|CMS13 Orphanet:353327|OMIM:614750|Orphanet:590|DOID:0110676|UMLS:C3553645 owl:Class NCBITaxon:782 biolink:NamedThing Rickettsia prowazekii tmpaxzxjjyw_mondo_relaxed.owl PMID:15879256|GC_ID:11 ncbi_taxonomy owl:Class HGNC:8889 biolink:NamedThing PGAM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6286 biolink:NamedThing Dirofilaria tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:15672 biolink:NamedThing ALG9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002006 biolink:NamedThing Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell A megakaryocyte erythroid progenitor cell that is Kit-positive and is Sca1-negative, CD34-negative, CD90-negative, IL7r-alpha-negative and Fcgr II/III-low. tmpaxzxjjyw_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-01-13T03:43:12Z cell owl:Class MONDO:0000741 biolink:NamedThing angular cheilitis Inflammation of the skin at the corners of the mouth characterized by redness, fissures or crusts. tmpaxzxjjyw_mondo_relaxed.owl perlèche|angular cheilosis|angular cheilitis|commissural cheilitis|cheilosis|cheilitis of angle of oral opening|angular stomatitis|perleche|angle of oral opening cheilitis MESH:D002613|DOID:0060312|ICD10:K13.0|UMLS:C0221237|UMLS:C0007971|UMLS:C0221264|SCTID:7847004|NCIT:C112198|SCTID:16459000 owl:Class UBERON:0018149 biolink:NamedThing angle of oral opening tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005323 biolink:NamedThing mesonephric mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013340 biolink:NamedThing Parkinson disease 5, autosomal dominant, susceptibility to Any young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene. tmpaxzxjjyw_mondo_relaxed.owl PARK5|susceptibility to autosomal dominant Parkinson disease 5|young-onset Parkinson disease caused by mutation in UCHL1|Parkinson disease 5, autosomal dominant, susceptibility to|UCHL1 young-onset Parkinson disease UMLS:C3150899|OMIM:613643|Orphanet:2828 owl:Class MONDO:0009430 biolink:NamedThing hypophosphatemic rickets, autosomal recessive, 1 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive hypophosphatemic rickets caused by mutation in DMP1|hypophosphatemic rickets, autosomal recessive, 1|hypophosphatemic rickets, autosomal recessive, type 1|ARHR1|DMP1 autosomal recessive hypophosphatemic rickets|Arhr|hypophosphatemia, autosomal recessive Orphanet:289176|UMLS:C0342643|MESH:C562792|OMIM:241520 owl:Class HGNC:2932 biolink:NamedThing DMP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010453 biolink:NamedThing regulation of cell fate commitment Any process that modulates the frequency, rate or extent of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr19p1 biolink:NamedThing 19p1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 26200000 0 hg38 owl:Class UBERON:0008788 biolink:NamedThing posterior cranial fossa tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19412 biolink:NamedThing ZMYND10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014022 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the RXYLT1 gene. tmpaxzxjjyw_mondo_relaxed.owl RXYLT1 muscular dystrophy-dystroglycanopathy, type A|muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10|MDDGA10|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10|Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-related UMLS:C3554381|DOID:0111239|OMIM:615041|Orphanet:899 owl:Class HGNC:13530 biolink:NamedThing RXYLT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002339 biolink:NamedThing prostate stem cell A prostate epithelial cell that is CD133-positive, CD44-positive, integrin A2beta3-high. This cell is a stem cell for the prostate epithelium. tmpaxzxjjyw_mondo_relaxed.owl CD133-positive prostate epithelial cell tmeehan 2010-09-20T03:21:06Z cell owl:Class UBERON:0036217 biolink:NamedThing coelomic fluid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012483 biolink:NamedThing cone-rod dystrophy 11 Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene. tmpaxzxjjyw_mondo_relaxed.owl CORD11|cone-rod dystrophy type 11|cone-rod dystrophy 11|cone-rod dystrophy caused by mutation in RAX2|RAX2 cone-rod dystrophy UMLS:C1835865|DOID:0111018|MESH:C563671|Orphanet:1872|OMIM:610381 owl:Class HGNC:18286 biolink:NamedThing RAX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012812 biolink:NamedThing developmental and epileptic encephalopathy, 4 Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition. tmpaxzxjjyw_mondo_relaxed.owl developmental and epileptic encephalopathy, 4|STXBP1-related early-onset encephalopathy|early infantile epileptic encephalopathy 4|epileptic encephalopathy, early infantile, type 4|DEE4|early infantile epileptic encephalopathy caused by mutation in STXBP1|epileptic encephalopathy, early infantile, 4|STXBP1 early infantile epileptic encephalopathy|EIEE4|STXBP1-related encephalopathy GARD:0012900|Orphanet:599373|DOID:0080436|NCIT:C162472|MESH:C567404|SCTID:768666006|UMLS:C2677326|OMIM:612164 https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4 owl:Class HGNC:11444 biolink:NamedThing STXBP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001302 biolink:NamedThing hypertensive heart disease Abnormal enlargement of the heart resulting from long-standing hypertension. tmpaxzxjjyw_mondo_relaxed.owl hypertensive cardiomegaly|hypertensive cardiopathy|hypertensive cardiovascular disease|hypertensive heart disease DOID:11516|ICD9:402.9|SCTID:64715009|NCIT:C4907|ICD10:I11|UMLS:C0152105|ICD9:402|ICD10:I11.9 owl:Class GO:1904480 biolink:NamedThing positive regulation of intestinal absorption Any process that activates or increases the frequency, rate or extent of intestinal absorption. tmpaxzxjjyw_mondo_relaxed.owl activation of intestinal absorption|upregulation of intestinal absorption|up regulation of intestinal absorption|up-regulation of intestinal absorption owl:Class HGNC:20692 biolink:NamedThing TPH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000968 biolink:NamedThing kidney lipoma A rare benign adipose tissue neoplasm of the kidney. It predominantly affects middle-aged females. It may originate from renal parenchymal fat or fat cells within the renal capsule. Clinical presentation includes hematuria and pain. tmpaxzxjjyw_mondo_relaxed.owl lipoma of the kidney|lipoma of kidney|kidney lipoma|renal lipoma NCIT:C5101|DOID:10194|UMLS:C1335744 owl:Class NCBITaxon:2560602 biolink:NamedThing Mumps orthorubulavirus tmpaxzxjjyw_mondo_relaxed.owl Mumps rubulavirus|Mumps virus GC_ID:1 NCBITaxon:11161|NCBITaxon:1979165 ncbi_taxonomy owl:Class HGNC:10978 biolink:NamedThing SLC24A4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100316 biolink:NamedThing long QT syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl long QT syndrome 1/2, digenic|long QT syndrome 1|LQT1|long QT syndrome type 1|long QT syndrome 1, acquired, susceptibility to|ventricular fibrillation with prolonged QT interval OMIM:613695|DOID:0110644|OMIM:192500|OMIM:611820|OMIM:612955|OMIM:613485|OMIM:613693|OMIM:600919|OMIM:613688|MedDRA:10039211|OMIM:616247|NCIT:C85049|GARD:0003284|OMIM:611818|OMIM:603830|ICD10:I45.8|OMIM:616249|SCTID:20852007|OMIM:611819 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:6294 biolink:NamedThing KCNQ1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4922 biolink:NamedThing HK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012860 biolink:NamedThing thrombophilia due to protein C deficiency, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl Proc deficiency, autosomal recessive|hereditary thrombophilia due to PC deficiency|thrombophilia due to PROTEIN C deficiency, autosomal recessive|THPH4|thrombophilia due to protein C deficiency, autosomal recessive|Protein C deficiency, autosomal recessive|hereditary thrombophilia due to congenital protein C deficiency|autosomal recessive hereditary thrombophilia due to protein C deficiency|autosomal recessive protein C deficiency Orphanet:745|MESH:C567353|UMLS:C2676759|GARD:0013041|OMIM:612304 owl:Class GO:0045600 biolink:NamedThing positive regulation of fat cell differentiation Any process that activates or increases the frequency, rate or extent of adipocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl stimulation of fat cell differentiation|upregulation of fat cell differentiation|positive regulation of adipocyte cell differentiation|up regulation of fat cell differentiation|up-regulation of fat cell differentiation|positive regulation of adipocyte differentiation|activation of fat cell differentiation owl:Class GO:0045444 biolink:NamedThing fat cell differentiation The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. tmpaxzxjjyw_mondo_relaxed.owl adipocyte cell differentiation|adipocyte differentiation|adipose cell differentiation|adipogenesis owl:Class CL:1000601 biolink:NamedThing ureteral cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001116 cell owl:Class CL:0005022 biolink:NamedThing vascular lymphangioblast Lymphatic progenitor cells, derived from the veins, that give rise to lymphatic endothelial cells. tmpaxzxjjyw_mondo_relaxed.owl parachordal lymphangioblast Ceri 2012-01-12T05:21:09Z cell owl:Class NCBITaxon:36831 biolink:NamedThing Clostridium botulinum F tmpaxzxjjyw_mondo_relaxed.owl PMID:8863443|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0014587 biolink:NamedThing congenital myasthenic syndrome 9 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene. tmpaxzxjjyw_mondo_relaxed.owl myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency|congenital myasthenic syndrome caused by mutation in MUSK|congenital myasthenic syndrome type 9|CMS9|congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency|MUSK congenital myasthenic syndrome UMLS:C4225368|DOID:0110670|Orphanet:590|OMIM:616325 owl:Class MONDO:0023699 biolink:NamedThing Maroteaux Fonfria syndrome tmpaxzxjjyw_mondo_relaxed.owl apparent apert syndrome with polydactyly|apert syndrome with polydactyly of hands and feet OMIM:101200|MESH:C536023|GARD:0003397|UMLS:C2931088 https://rarediseases.info.nih.gov/diseases/3397/maroteaux-fonfria-syndrome owl:Class UBERON:0010032 biolink:NamedThing anterior part of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0045059 biolink:NamedThing cribriform carcinoma of breast tmpaxzxjjyw_mondo_relaxed.owl cribriform carcinoma|ductal carcinoma, cribriform type DOID:5675 owl:Class MONDO:0004513 biolink:NamedThing adult pleomorphic rhabdomyosarcoma An aggressive rhabdomyosarcoma occurring in adults. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually in the lower extremities. tmpaxzxjjyw_mondo_relaxed.owl pleomorphic rhabdomyosarcoma of adults|adult pleomorphic rhabdomyosarcoma DOID:8251|NCIT:C27369|ICDO:8901/3|UMLS:C1332211 owl:Class HGNC:19967 biolink:NamedThing CCDC88C tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8773 biolink:NamedThing PDE11A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001943 biolink:NamedThing midbrain tegmentum tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11188 biolink:NamedThing SOS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001256 biolink:NamedThing wall of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010537 biolink:NamedThing mesonephric nephron progenitor tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006928 biolink:NamedThing movement of cell or subcellular component The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. tmpaxzxjjyw_mondo_relaxed.owl cell movement|cellular component movement|cellular component motion owl:Class GO:0032869 biolink:NamedThing cellular response to insulin stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005148 biolink:NamedThing metanephric S-shaped body tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0014020 biolink:NamedThing primary neural tube formation The formation of the neural tube from an epithelial cell sheet (the neuroepithelium or neural plate). In primary neurulation, the cells surrounding the neural plate direct the neural plate cells to proliferate, invaginate, and pinch off from the surface to form a hollow epithelial tube. Primary neurulation is the typical mechanism of formation of the anterior neural tube. tmpaxzxjjyw_mondo_relaxed.owl primary neurulation|primary neural tube morphogenesis owl:Class HGNC:3049 biolink:NamedThing DSG2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004022 biolink:NamedThing germinal neuroepithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7230 biolink:NamedThing MRE11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007148 biolink:NamedThing lumen of hindgut tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015484 biolink:NamedThing cysticercosis Cysticercosis is a parasitic infectious disease characterized by cyst formation in the target tissue of Taenia solium (tapeworm) parasite larvae ingested via the feces of a human with a tapeworm (human-to-human fecal-oral transmission) leading to variable clinical manifestations in muscle, the brain, spinal cord, and eyes. Infection of muscle tissue is generally asymptomatic. Cyst development in the brain and spinal cord is known as neurocysticercosis (NCC) and may cause seizures and headache. NCC can follow a serious course and may be life-threatening. Severe cases of cysticercosis are treated with albendazole and anti-inflammatory drugs. tmpaxzxjjyw_mondo_relaxed.owl tapeworm infection: pork|tenia solium infectious disease|tapeworm infection: intestinal taenia solum|tapeworm infection: [intestinal taenia solium] or [pork]|intestinal taenia solium infection|pork tapeworm infection|neurocysticercosis ICD10:B69.9|NCIT:C34520|ICD9:123.1|GARD:0008194|EFO:0007231|SCTID:59051007|ICD10:B69|ICD10:B69.1|UMLS:C0010678|ICD10:B69.0|UMLS:C0338437|MESH:D003551|ICD10:B69.8|DOID:10079|MedDRA:10011775|Orphanet:1560 owl:Class MONDO:0005825 biolink:NamedThing leptospirosis A contagious bacterial infection caused by spirochetes of the genus Leptospira. Humans are infected by contact with water and soil which have been contaminated with animal waste products. The signs and symptoms include an initial flu-like phase, followed by a second phase in which patients may develop meningitis, liver failure and renal failure. tmpaxzxjjyw_mondo_relaxed.owl seven day fever|rice-field fever|Queensland fever|infection due to Leptospira|rat catcher's yellows|rice-field worker's disease|leptospirosis icterohaemorrhagica|mud fever|Leptospira infectious disease|canicola fever|swineherd's disease|swamp fever|Leptospira disease or disorder|hemorrhagic jaundice|nanukayami fever|Weil disease|leptospirosis|Icterohemorrhagic fever|Leptospira caused disease or disorder|fort Bragg fever|cane-cutter fever|Stuttgart disease|spirochetal jaundice|cane cutter's fever|japanese autumnal fever|harvest fever SCTID:77377001|MESH:D014895|UMLS:C0023364|NCIT:C84825|EFO:0007344|Orphanet:509|ICD10:A27.9|MedDRA:10024238|ICD9:100.89|MESH:D007922|ICD10:A27|ICD9:100.0|ICD10:A27.8|SCTID:398067003|GARD:0007881|ICD9:100|DOID:2297|ICD9:100.9|ICD10:A27.0 https://rarediseases.info.nih.gov/diseases/7881/leptospirosis owl:Class ENVO:01000179 biolink:NamedThing desert biome A desert biome is a terrestrial biome which loses more liquid water by evapotranspiration than is supplied by precipitation and includes communities adapted to these conditions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PCO:0000002 biolink:NamedThing ecological community A multi-species collection of organisms of at least two different species, living in a particular area. Must have at least two populations of different species as members. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004122 biolink:NamedThing genitourinary system tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050885 biolink:NamedThing neuromuscular process controlling balance Any process that an organism uses to control its balance, the orientation of the organism (or the head of the organism) in relation to the source of gravity. In humans and animals, balance is perceived through visual cues, the labyrinth system of the inner ears and information from skin pressure receptors and muscle and joint receptors. tmpaxzxjjyw_mondo_relaxed.owl regulation of balance owl:Class MONDO:0015079 biolink:NamedThing multiple polyglandular tumor tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027662|UMLS:CN197373|ICD10:D44.8|Orphanet:100094 Editor note: ORDO classifies as inherited but there are non-inherited forms such as Carney triad owl:Class UBERON:0006650 biolink:NamedThing tunica vaginalis testis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017775 biolink:NamedThing melioidosis An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration. tmpaxzxjjyw_mondo_relaxed.owl Whitmore disease|Whitmore's disease|subacute and chronic melioidosis|Burkholderia pseudomallei disease or disorder|acute and fulminating melioidosis|pseudoglanders|Burkholderia pseudomallei infectious disease|Nightcliff gardener's disease|Burkholderia pseudomallei caused disease or disorder|Burkholderia pseudomallei infection|B pseudomallei infection ICD10:A24.3|MESH:D008554|UMLS:C0348971|ICD9:025|ICD10:A24.4|GARD:0009546|SCTID:186312003|ICD10:A24.9|ICD10:A24.2|ICD10:A24.1|UMLS:C0348970|NCIT:C128336|DOID:5052|Orphanet:31202|OMIM:615557|UMLS:C0025229|MedDRA:10069748 https://rarediseases.info.nih.gov/diseases/9546/melioidosis owl:Class NCBITaxon:28450 biolink:NamedThing Burkholderia pseudomallei tmpaxzxjjyw_mondo_relaxed.owl Bacillus pseudomallei|Malleomyces pseudomallei|Bacterium whitmori|Pseudomonas pseudomallei|Loefflerella pseudomallei GC_ID:11|PMID:12734250|PMID:1283774 NCBITaxon:1439853|NCBITaxon:1487955|NCBITaxon:1435988|NCBITaxon:1435368|NCBITaxon:1487954|NCBITaxon:1435366 ncbi_taxonomy owl:Class MONDO:0018649 biolink:NamedThing cerebral visual impairment A vision disorder that results from damage of the part of the cerebral cortex that is involved in the processing of visual information. tmpaxzxjjyw_mondo_relaxed.owl visual cortex disorder|cortical visual impairment 2022-04-01 Orphanet:447788|NCIT:C35275|UMLS:C0234398|ICD10:H47.6|UMLS:CN237707|SCTID:413924001 Reason: is a phenotype and not a disease. Term to consider: HP:0100704 HP:0100704 owl:Class MONDO:0013991 biolink:NamedThing obesity due to congenital leptin deficiency Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia. tmpaxzxjjyw_mondo_relaxed.owl leptin deficiency or dysfunction|LEPD|obesity, morbid, nonsyndromic 1 Orphanet:66628|DOID:0111334|OMIM:614962|ICD10:E66.8|GARD:0013015|UMLS:C3554224 https://rarediseases.info.nih.gov/diseases/13015/obesity-due-to-congenital-leptin-deficiency owl:Class HGNC:6553 biolink:NamedThing LEP tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7468 biolink:NamedThing MTR tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6404 biolink:NamedThing KPTN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012180 biolink:NamedThing arrhythmogenic right ventricular dysplasia 9 Any familial isolated arrhythmogenic right ventricular dysplasia in which the cause of the disease is a mutation in the PKP2 gene. tmpaxzxjjyw_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia type 9|arrhythmogenic right ventricular dysplasia, familial, 9|arrhythmogenic right ventricular dysplasia 9|familial arrhythmogenic right ventricular dysplasia 9|familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2|arrhythmogenic right ventricular dysplasia, familial, type 9|PKP2 familial isolated arrhythmogenic right ventricular dysplasia|ARVD9|arrhythmogenic right ventricular cardiomyopathy 9|ARVC9 DOID:0110077|MESH:C563808|UMLS:C1836906|ICD10:I42.8|OMIM:609040|Orphanet:217656 owl:Class HGNC:9024 biolink:NamedThing PKP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002063 biolink:NamedThing sinus venosus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021013 biolink:NamedThing trichothiodystrophy 4, nonphotosensitive A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein. tmpaxzxjjyw_mondo_relaxed.owl BIDS syndrome|trichothiodystrophy 4, nonphotosensitive|Pollitt syndrome|TTD4|nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP|Amish brittle hair brain syndrome|trichothiodystrophy, nonphotosensitive 1|MPLKIP nonphotosensitive trichothiodystrophy|nonphotosensitive trichothiodystrophy|hair-brain syndrome|trichothiodystrophy-neurocutaneous syndrome DOID:0050528|OMIM:234050|SCTID:403796005|NCIT:C146899|ICD9:704.8|Orphanet:75790|ICD9:783.43 owl:Class HGNC:16002 biolink:NamedThing MPLKIP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010342 biolink:NamedThing autism, susceptibility to, X-linked 3 tmpaxzxjjyw_mondo_relaxed.owl autism, susceptibility to, X-linked 3|AUTSX3|susceptibility to X-linked autism 3|autism, susceptibility to, X-linked type 3 OMIM:300496 owl:Class HGNC:20233 biolink:NamedThing COQ6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017630 biolink:NamedThing X-linked complicated spastic paraplegia type 1 An X-linked form of L1 syndrome characterized by spastic paraplegia, mild to moderate intellectual disability, normal MRI of the brain. tmpaxzxjjyw_mondo_relaxed.owl SPG1 Orphanet:306617|GARD:0012525|UMLS:CN203524 owl:Class HGNC:6470 biolink:NamedThing L1CAM tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018903 biolink:NamedThing sarcocystosis Infection of the striated muscle of mammals by parasites of the genus sarcocystis. Disease symptoms such as vomiting, diarrhea, muscle weakness, and paralysis are produced by sarcocystin, a toxin produced by the organism. tmpaxzxjjyw_mondo_relaxed.owl sarcosporidiosis Orphanet:54368|EFO:0007476|MedDRA:10039483|ICD9:136.5|ICD10:A07.8|UMLS:C0036231|MESH:D012523|DOID:9640|SCTID:88905005 owl:Class CL:0002483 biolink:NamedThing hair follicle melanocyte A melanocyte that produces pigment within the hair follicle. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-12-03T03:17:09Z cell owl:Class NCBITaxon:1647 biolink:NamedThing Erysipelothrix tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:7537073 ncbi_taxonomy owl:Class MONDO:0016182 biolink:NamedThing qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase tmpaxzxjjyw_mondo_relaxed.owl qualitative or quantitative defects of protein POMGNT1 Orphanet:209024 owl:Class MONDO:0014836 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2CC Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NEFH gene. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 2CC|Charcot-Marie-Tooth disease axonal type 2CC|NEFH Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease caused by mutation in NEFH|Charcot-Marie-Tooth neuropathy, type 2Cc|CMT2CC|Charcot-Marie-Tooth disease, axonal, type 2CC|Charcot-Marie-Tooth disease, axonal, type 2cc DOID:0110180|UMLS:C4310790|OMIM:616924 owl:Class UBERON:0011865 biolink:NamedThing corneal stroma collagen fibril tmpaxzxjjyw_mondo_relaxed.owl owl:Class N3e5749ed37904d8a86c111cc8a6d6f9f biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0013694 biolink:NamedThing brain endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015361 biolink:NamedThing autosomal recessive hereditary demyelinating motor and sensory neuropathy tmpaxzxjjyw_mondo_relaxed.owl AR demyelinating HMSN Orphanet:140459|ICD10:G60.0|UMLS:CN228928 owl:Class UBERON:0009614 biolink:NamedThing hindbrain neural plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011817 biolink:NamedThing coronary heart disease, susceptibility to, 1 Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene. tmpaxzxjjyw_mondo_relaxed.owl Chds1|coronary artery disease caused by mutation in CX3CR1|coronary heart disease, susceptibility to, type 1|coronary heart disease, susceptibility to, 1|CX3CR1 coronary artery disease UMLS:C1846418|OMIM:607339 owl:Class HGNC:2558 biolink:NamedThing CX3CR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29215 biolink:NamedThing SHROOM4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009659 biolink:NamedThing mucopolysaccharidosis type 4A A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits. tmpaxzxjjyw_mondo_relaxed.owl MPSIVA|mucopolysaccharidosis, type 4A|mucopolysaccharidosis type 4A|Morquio A disease|GALNS deficiency|MPS4A|Morquio disease type A|galactosamine-6-sulfatase deficiency|MPS 4A|Morquio syndrome A|MPS IVA|mucopolysaccharidosis, type IVA|mucopolysaccharidosis type IVA|MPS IV A|N-acetylgalactosamine-6-sulfate sulfatase deficiency Orphanet:309297|GARD:0003785|NCIT:C84901|OMIM:253000|DOID:0111391|SCTID:7259005|Orphanet:582|ICD10:E76.2 owl:Class GO:0033844 biolink:NamedThing galactose-6-sulfurylase activity Catalysis of the elimination of sulfate from the D-galactose 6-sulfate residues of porphyran, producing 3,6-anhydrogalactose residues. tmpaxzxjjyw_mondo_relaxed.owl galactose-6-sulfatase activity|galactose 6-sulfatase activity|porphyran sulfatase activity|D-galactose-6-sulfate:alkyltransferase (cyclizing) activity owl:Class UBERON:0009973 biolink:NamedThing ureterovesical junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005751 biolink:NamedThing epidemic pleurodynia An acute, febrile, infectious disease generally occurring in epidemics. It is usually caused by coxsackieviruses B and sometimes by coxsackieviruses A; echoviruses; or other enteroviruses. tmpaxzxjjyw_mondo_relaxed.owl epidemic pleurisy|Bornholm disease|devil's grip|epidemic, myositis|epidemic myalgia|Bamble disease ICD9:074.1|SCTID:83264000|ICD10:B33.0|MESH:D011000|EFO:0007259|DOID:10882|UMLS:C0032238 owl:Class NCBITaxon:138949 biolink:NamedThing Enterovirus B tmpaxzxjjyw_mondo_relaxed.owl Enterovirus EV-B|Human enterovirus B GC_ID:1 ncbi_taxonomy owl:Class UBERON:0011850 biolink:NamedThing acinus of salivary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013059 biolink:NamedThing Aicardi-Goutieres syndrome 5 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the SAMHD1 gene. tmpaxzxjjyw_mondo_relaxed.owl SAMHD1 Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in SAMHD1|Aicardi-Goutieres syndrome 5|Aicardi-Goutieres syndrome type 5|SAMHD1-related Aicardi-Goutieres syndrome|AGS5 NCIT:C168564|GARD:0010151|Orphanet:51|MESH:C535608|OMIM:612952 owl:Class MONDO:0013061 biolink:NamedThing myofibrillar myopathy 6 Selcen type muscular dystrophy is characterized by progressive limb and axial muscle weakness associated with cardiomyopathy and severe respiratory insufficiency during adolescence. The disease manifests during childhood and progresses rapidly. tmpaxzxjjyw_mondo_relaxed.owl myofibrillar myopathy type 6|muscular dystrophy, Selcen type|BAG3-related myofibrillar myopathy|MFM6|myopathy, myofibrillar, type 6|myofibrillar myopathy 6|myofibrillar myopathy (disease) caused by mutation in BAG3|myopathy, myofibrillar, 6|BAG3 myofibrillar myopathy (disease)|myopathy, myofibrillar, Bag3-related ICD10:G71.8|OMIM:612954|MESH:C567843|Orphanet:199340|DOID:0080097 owl:Class HGNC:939 biolink:NamedThing BAG3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020069 biolink:NamedThing chronic encephalitis Chronic form of encephalitis. tmpaxzxjjyw_mondo_relaxed.owl encephalitis, chronic Orphanet:98255|UMLS:C0006109 owl:Class MONDO:0014030 biolink:NamedThing primary ciliary dyskinesia 20 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia type 20|CCDC114 primary ciliary dyskinesia|ciliary dyskinesia, primary, 20|CILD20|primary ciliary dyskinesia caused by mutation in CCDC114|primary ciliary dyskinesia 20 with or without situs inversus|ciliary dyskinesia, primary, 20, with or without situs inversus|ciliary dyskinesia, primary, type 20 OMIM:615067|UMLS:C3540844|Orphanet:244|DOID:0110625|ICD10:Q34.8 owl:Class HGNC:26560 biolink:NamedThing ODAD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013696 biolink:NamedThing tonsil epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002372 biolink:NamedThing tonsil tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008431 biolink:NamedThing sacral foramen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014359 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 4 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene. tmpaxzxjjyw_mondo_relaxed.owl chromosome 19P13 Duplication syndrome|ACTH-independent adrenal Cushing syndrome, somatic|PRKACA primary pigmented nodular adrenocortical disease|pigmented nodular adrenocortical disease, primary, type 4|Cushing syndrome, adrenal, due to Ppnad4|pigmented nodular adrenocortical disease, primary, 4|PPNAD4|primary pigmented nodular adrenocortical disease caused by mutation in PRKACA OMIM:615830|UMLS:C4014425 owl:Class HGNC:9380 biolink:NamedThing PRKACA tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2001213 biolink:NamedThing negative regulation of vasculogenesis Any process that stops, prevents or reduces the frequency, rate or extent of vasculogenesis. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of vascular morphogenesis owl:Class HGNC:30500 biolink:NamedThing PRRT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004671 biolink:NamedThing penis carcinoma in situ A in situ carcinoma that involves the penis. tmpaxzxjjyw_mondo_relaxed.owl carcinoma in situ of the penis|grade III penile intraepithelial neoplasia|stage 0 penis carcinoma|Bowen's disease of the penis|carcinoma in situ of penis|grade III squamous intraepithelial lesion of the penis|penile intraepithelial neoplasia grade III|Bowen's disease of penis|grade III squamous intraepithelial lesion of penis|penile carcinoma in situ|stage 0 penile carcinoma in situ|penis in situ carcinoma|penile carcinoma in situ aJCC v7|erythroplasia of Queyrat|Queyrat erythroplasia|Queyrat's erythroplasia|Bowen disease of the penis DOID:8872|ICD10:D07.4|UMLS:C0154089|ICDO:8080/2|SCTID:398831006|NCIT:C27790|ICD9:233.5|ICD10:D00-D09 owl:Class OBO:CHR_9606-chr13q1 biolink:NamedThing 13q1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 54700000 17700000 hg38 owl:Class MONDO:0009869 biolink:NamedThing isolated Pierre-Robin syndrome Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft. tmpaxzxjjyw_mondo_relaxed.owl isolated Pierre-Robin syndrome|PRBNS|Pierre Robin's sequence|Pierre Robin syndrome|isolated Pierre Robin sequence|sequence, Pierre Robin|Pierre Robins sequence|isolated Pierre Robin syndrome|Pierre Robin sequence|Pierre Robin syndrome skeletal dysplasia polydactyly|Pierre-Robin syndrome|Robin syndrome, Pierre|sequence, Pierre Robin's|syndrome, Pierre Robin|glossoptosis, micrognathia, and cleft palate|syndrome, Pierre-Robin|Robin sequence|sequence, Robin Orphanet:718|NCIT:C85010|MESH:D010855|OMIM:261800|GARD:0004347|ICD10:Q87.0|SCTID:4602007|GARD:0004354 owl:Class MONDO:0000554 biolink:NamedThing endocervical adenocarcinoma An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei. tmpaxzxjjyw_mondo_relaxed.owl endocervix adenocarcinoma|endocervical adenocarcinoma, usual type UMLS:C4289591|NCIT:C127907|DOID:0050940|ONCOTREE:ECAD|SCTID:123842006|UMLS:C1263762 owl:Class MONDO:0001409 biolink:NamedThing esophagitis An acute or chronic inflammatory disease affecting the esophageal wall. tmpaxzxjjyw_mondo_relaxed.owl esophagus inflammation|acute esophagitis|inflammation of esophagus|esophagitis|esophagitis (disease) esophagitis (disease) DOID:11963|UMLS:C0149882|HP:0100633|ICD9:530.10|MESH:D004941|ICD10:K20|ICD9:530.1|ICD10:K20.9|SCTID:16761005|NCIT:C9224|UMLS:C0014868|ICD9:530.12 owl:Class MONDO:0011904 biolink:NamedThing seizures, benign familial infantile, 3 Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene. tmpaxzxjjyw_mondo_relaxed.owl benign familial infantile epilepsy caused by mutation in SCN2A|BFIS3|SCN2A benign familial infantile epilepsy|seizures, benign familial neonatal-infantile|seizures, benign familial infantile, 3|convulsions, benign familial infantile, 3|seizures, benign familial infantile, type 3 Orphanet:306|UMLS:C1843140|Orphanet:140927|OMIM:607745 owl:Class HGNC:10588 biolink:NamedThing SCN2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000323 biolink:NamedThing late embryo tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005632 biolink:NamedThing acute chest syndrome A vaso-occlusive crisis of the pulmonary vasculature occurring in patients with sickle cell disease. It is characterized by the presence of a new radiodensity on a chest radiograph accompanied by fever, cough, sputum production, dyspnea, or hypoxia. tmpaxzxjjyw_mondo_relaxed.owl acute chest syndrome in sickle cell disease|ACS EFO:0007129|UMLS:C0742343|ICD9:517.3|DOID:1584|NCIT:C138179|MESH:D056586|SCTID:372146004 owl:Class MONDO:0009318 biolink:NamedThing Hallermann-Streiff syndrome Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases. tmpaxzxjjyw_mondo_relaxed.owl Hallermann Streiff syndrome|Francois dyscephalic syndrome|Hallermann's syndrome|Hallermann-Streiff syndrome|FranC'ois dyscephalic syndrome|oculomandibulofacial syndrome|Hallermann syndrome|HSS|François dyscephalic syndrome|Hallermann Streiff Francois syndrome|Hallerman - Streiff syndrome MESH:D006210|SCTID:7903009|GARD:0000288|ICD10:Q87.0|NCIT:C84746|Orphanet:2108|UMLS:C0018522|OMIM:234100|DOID:4534 https://rarediseases.info.nih.gov/diseases/288/hallermann-streiff-syndrome owl:Class OBO:MF_0000073 biolink:NamedThing intentionality Intentionality is the fundamental quality of conscious mental processes of always having content, of being directed towards, or about something. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013963 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 93 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene. tmpaxzxjjyw_mondo_relaxed.owl DFNB93|deafness, autosomal recessive type 93|deafness, autosomal recessive 93|CABP2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 93|autosomal recessive nonsyndromic deafness caused by mutation in CABP2|autosomal recessive deafness 93|autosomal recessive nonsyndromic deafness 93 DOID:0110537|OMIM:614899|ICD10:H90.3 owl:Class HGNC:1385 biolink:NamedThing CABP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class N804fb63c87f74bc988cf5e6ec9cba409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013754 biolink:NamedThing cutis laxa, autosomal recessive, type 1B An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. tmpaxzxjjyw_mondo_relaxed.owl ARCL1B|cutis laxa, autosomal recessive, type IB|autosomal recessive cutis laxa type IB Orphanet:90349|OMIM:614437|UMLS:C3280798|DOID:0070133|ICD10:Q82.8 owl:Class MONDO:0009694 biolink:NamedThing myeloperoxidase deficiency tmpaxzxjjyw_mondo_relaxed.owl myeloperoxidase deficiency|MPO deficiency|MPOD OMIM:254600|UMLS:C0398595|ICD10:E80.3|MESH:C562864|SCTID:234433009|ICD9:288.8|GARD:0003868|Orphanet:2587 https://rarediseases.info.nih.gov/diseases/3868/myeloperoxidase-deficiency owl:Class HGNC:7218 biolink:NamedThing MPO tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002603 biolink:NamedThing astrocyte of the cerebellum An astrocyte of the cerebellum. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T06:57:27Z cell owl:Class Nc41dd41f860345babd7f7345f89fddbc biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007222 biolink:NamedThing brachydactyly type D A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1. tmpaxzxjjyw_mondo_relaxed.owl stub thumb|brachydactyly, type D|BDD DOID:0110971|MESH:C562420|OMIM:113200|Orphanet:93385 Editor note: OMIM xrefs Orphanet ID that does not appear to exist owl:Class HGNC:11503 biolink:NamedThing SYNJ1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3218 biolink:NamedThing EFEMP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2867 biolink:NamedThing DHODH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011395 biolink:NamedThing cone-rod dystrophy 3 Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene. tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy caused by mutation in ABCA4|CORD3|cone-rod dystrophy type 3|cone-rod dystrophy 3|ABCA4 cone-rod dystrophy MESH:C565827|OMIM:604116|DOID:0111013|UMLS:C1858806|GARD:0010653 https://rarediseases.info.nih.gov/diseases/10653/cone-rod-dystrophy-3 owl:Class HGNC:34 biolink:NamedThing ABCA4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024476 biolink:NamedThing epithelial neoplasm of rectum A epithelial neoplasm that involves the rectum. tmpaxzxjjyw_mondo_relaxed.owl rectal epithelial neoplasm|rectum epithelial neoplasm|rectal epithelial tumor owl:Class UBERON:0010538 biolink:NamedThing paired limb/fin segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034903 biolink:NamedThing left atrium endocardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018218 biolink:NamedThing autosomal recessive cerebral atrophy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:363969|ICD10:G31.8|UMLS:CN204742 owl:Class HP:0002059 biolink:NamedThing Cerebral atrophy Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. tmpaxzxjjyw_mondo_relaxed.owl Degeneration of cerebrum|Supratentorial atrophy UMLS:C0154671|SNOMEDCT_US:52522001|UMLS:C4020860|SNOMEDCT_US:278849000|SNOMEDCT_US:418143002|UMLS:C0235946 Atrophy may be progressive over time. HP:0006890|HP:0002422 human_phenotype owl:Class MONDO:0014798 biolink:NamedThing brachydactyly type A1D Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly type A1 caused by mutation in BMPR1B|brachydactyly, type A1, D|BDA1D|BMPR1B brachydactyly type A1 OMIM:616849|UMLS:C4225183|DOID:0110978 owl:Class HGNC:1077 biolink:NamedThing BMPR1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003209 biolink:NamedThing thymus gland adenocarcinoma A rare primary thymic carcinoma, characterized by the presence of carcinoma cells with glandular differentiation. tmpaxzxjjyw_mondo_relaxed.owl thymic adenocarcinoma|adenocarcinoma of Thymus|Thymus adenocarcinoma|adenocarcinoma of the Thymus|thymus adenocarcinoma UMLS:C1336743|DOID:4923|NCIT:C6459 owl:Class HGNC:3776 biolink:NamedThing AFF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044688 biolink:NamedThing isolated optic neuritis tmpaxzxjjyw_mondo_relaxed.owl ion Orphanet:499096 owl:Class MONDO:0010959 biolink:NamedThing van den Ende-Gupta syndrome Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features. tmpaxzxjjyw_mondo_relaxed.owl van den Ende-Gupta syndrome|Van den Ende Gupta syndrome|Marden-Walker-like syndrome|Marden Walker like syndrome without psychomotor retardation|VAN DEN Ende-Gupta syndrome|Marden Walker like syndrome|blepharophimosis, arachnodactyly, and congenital contractures|Marden-Walker-like syndrome without psychomotor retardation|VDEGS UMLS:C1833136|ICD10:Q87.0|Orphanet:2460|OMIM:600920|DOID:0111699|GARD:0003382|MESH:C535909|SCTID:719845008 owl:Class HGNC:19869 biolink:NamedThing SCARF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001939 biolink:NamedThing skin epithelioid hemangioma A hemangioma arising from the skin. It is characterized by the presence of epithelioid endothelial cells. tmpaxzxjjyw_mondo_relaxed.owl histiocytoid hemangioma of skin|angiolymphoid cutaneous hyperplasia|skin epithelioid hemangioma|histiocytoid hemangioma of the skin|epithelioid hemangioma of skin|angiolymphoid hyperplasia of the skin|angiolymphoid hyperplasia of skin|histiocytoid hemangioma of zone of skin|zone of skin histiocytoid hemangioma|epithelioid hemangioma of the skin EFO:1001424|DOID:14308|SCTID:400131007|UMLS:C0002989|NCIT:C7393 owl:Class MONDO:0008710 biolink:NamedThing RAB23-related Carpenter syndrome Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene. tmpaxzxjjyw_mondo_relaxed.owl CRPT1|Carpenter syndrome type 1|acrocephalopolysyndactyly type 2|CARPENTER syndrome 1|Carpenter syndrome caused by mutation in RAB23|ACPS 2|RAB23 Carpenter syndrome|RAB23-related Carpenter syndrome|Carpenter syndrome 1|Carpenter syndrome Orphanet:65759|OMIM:201000|UMLS:C1275078|SCTID:205813009 owl:Class MONDO:0012700 biolink:NamedThing renal tubular acidosis, distal, 4, with hemolytic anemia Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia. tmpaxzxjjyw_mondo_relaxed.owl dRTA with anemia|renal tubular acidosis, distal, with hemolytic anemia|RTA, distal, autosomal recessive, with hemolytic Anemia|distal renal tubular acidosis with anemia|renal tubular acidosis, distal, with normal Red cell morphology OMIM:611590|UMLS:C1969038|ICD10:N25.8|Orphanet:93610|Orphanet:18 owl:Class HP:0001025 biolink:NamedThing Urticaria Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. tmpaxzxjjyw_mondo_relaxed.owl Hives UMLS:C0042109|MSH:D014581|SNOMEDCT_US:247472004|SNOMEDCT_US:126485001|SNOMEDCT_US:64305001|MEDDRA:10046735 human_phenotype owl:Class MONDO:0014778 biolink:NamedThing Lamb-Shaffer syndrome tmpaxzxjjyw_mondo_relaxed.owl LAMSHF|Lamb-Shaffer syndrome|Lamb-Shaffer syndrome; LAMSHF OMIM:616803|Orphanet:530983|UMLS:C4225202 owl:Class HGNC:11201 biolink:NamedThing SOX5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012718 biolink:NamedThing hypotonia with lactic acidemia and hyperammonemia This syndrome is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 5|MRPS22 combined oxidative phosphorylation deficiency|COXPD5|combined oxidative phosphorylation defect type 5|combined oxidative phosphorylation deficiency 5|combined oxidative phosphorylation deficiency caused by mutation in MRPS22 DOID:0111473|Orphanet:137908|OMIM:611719|UMLS:C4510567|ICD10:E88.8|SCTID:724279004|UMLS:C2673642|MESH:C567126 owl:Class GO:0005583 biolink:NamedThing fibrillar collagen trimer Any triple helical collagen trimer that forms fibrils. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011830 biolink:NamedThing duct of lesser vestibular gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013685 biolink:NamedThing pancreatic cancer, susceptibility to, 4 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene. tmpaxzxjjyw_mondo_relaxed.owl pancreatic cancer, susceptibility to, type 4|familial pancreatic carcinoma caused by mutation in BRCA1|BRCA1 familial pancreatic carcinoma|pancreatic cancer, susceptibility to, 4|susceptibility to pancreatic cancer 4|PNCA4 Orphanet:1333|OMIM:614320 owl:Class GO:0030813 biolink:NamedThing positive regulation of nucleotide catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. tmpaxzxjjyw_mondo_relaxed.owl upregulation of nucleotide catabolic process|up-regulation of nucleotide catabolic process|activation of nucleotide catabolic process|stimulation of nucleotide catabolic process|positive regulation of nucleotide catabolism|up regulation of nucleotide catabolic process|positive regulation of nucleotide degradation|positive regulation of nucleotide breakdown owl:Class MONDO:0015742 biolink:NamedThing periventricular leukomalacia Periventricular leukomalacia (PVL) is a brain injury disorder characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns, and premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to thearea around the ventricles of the brain, which results in the death of brain tissue. Although babies with PVL generally have no apparent signs or symptoms of the disorder at delivery, they are at risk for motor disorders, cerebral palsy, delayed mental development, coordination problems, and vision and hearing impairments. There is no cure for PVL. Treatment is generally supportive. Prognosis is dependent on the extent of damage to the ventricles. tmpaxzxjjyw_mondo_relaxed.owl PVL ICD9:742.8|MESH:D007969|DOID:13088|NCIT:C99013|ICD10:P91.2|UMLS:C0023529|Orphanet:171676|GARD:0010285|EFO:1001101|MedDRA:10052594|ICD9:779.7|SCTID:230769007 https://rarediseases.info.nih.gov/diseases/10285/periventricular-leukomalacia owl:Class MONDO:0013616 biolink:NamedThing pigmented nodular adrenocortical disease, primary, 3 Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene. tmpaxzxjjyw_mondo_relaxed.owl Cushing syndrome, adrenal, due to PPNAD3|pigmented nodular adrenocortical disease, primary, type 3|PDE8B primary pigmented nodular adrenocortical disease|pigmented nodular adrenocortical disease, primary, 3|primary pigmented nodular adrenocortical disease caused by mutation in PDE8B|PPNAD3 OMIM:614190|UMLS:C3280094|Orphanet:189439 owl:Class CHEBI:32495 biolink:NamedThing D-phenylalaninium An optically active form of phenylalaninium having D-configuration. tmpaxzxjjyw_mondo_relaxed.owl D-phenylalaninium|(1R)-1-carboxy-2-phenylethanaminium|D-phenylalanine cation owl:Class MONDO:0013397 biolink:NamedThing acne inversa, familial, 2 Any familial acne inversa in which the cause of the disease is a mutation in the PSENEN gene. tmpaxzxjjyw_mondo_relaxed.owl acne inversa, familial, 2, with or without Dowling-Degos disease|acne inversa, familial, 2|ACNINV2|acne inversa, familial, type 2|familial acne inversa caused by mutation in PSENEN|PSENEN familial acne inversa UMLS:C3151037|OMIM:613736 owl:Class HGNC:30100 biolink:NamedThing PSENEN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044303 biolink:NamedThing congenital heart defects and ectodermal dysplasia tmpaxzxjjyw_mondo_relaxed.owl congenital heart defects and ectodermal dysplasia|CHDED UMLS:C4479250|OMIM:617364 owl:Class MONDO:0018107 biolink:NamedThing idiopathic recurrent and disabling cutaneous herpes tmpaxzxjjyw_mondo_relaxed.owl ICD10:B00.1|Orphanet:35061|UMLS:CN204468 owl:Class MONDO:0006468 biolink:NamedThing thyroid gland undifferentiated (anaplastic) carcinoma A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive. tmpaxzxjjyw_mondo_relaxed.owl undifferentiated carcinoma of the thyroid gland|undifferentiated carcinoma of thyroid|undifferentiated thyroid tumor|anaplastic carcinoma of thyroid|anaplastic thyroid cancer|undifferentiated thyroid gland carcinoma|undifferentiated (anaplastic) thyroid gland carcinoma|sarcomatoid thyroid gland carcinoma|undifferentiated thyroid carcinoma|thyroid carcinoma, anaplastic|undifferentiated carcinoma of thyroid gland|anaplastic carcinoma of the thyroid|Dedifferentiated thyroid gland carcinoma|anaplastic thyroid gland carcinoma|thyroid gland undifferentiated carcinoma|thyroid cancer, anaplastic|anaplastic thyroid carcinoma|thyroid gland undifferentiated (anaplastic) carcinoma|anaplastic carcinoma of the thyroid gland|THAP|anaplastic carcinoma of thyroid gland|undifferentiated (anaplastic) thyroid gland cancer|pleomorphic thyroid gland carcinoma|undifferentiated carcinoma of the thyroid|thyroid gland carcinosarcoma|metaplastic thyroid gland carcinoma NCIT:C3878|Orphanet:142|EFO:1000595|MedDRA:10002240|GARD:0000664|MESH:D065646|ICD10:C73|DOID:0080522|SCTID:255031003|UMLS:C0238461|ONCOTREE:THAP|HP:0011779 owl:Class GO:0006898 biolink:NamedThing receptor-mediated endocytosis An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. tmpaxzxjjyw_mondo_relaxed.owl receptor mediated endocytosis owl:Class MONDO:0010194 biolink:NamedThing Weill-Marchesani syndrome 1 Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene. tmpaxzxjjyw_mondo_relaxed.owl Weill-Marchesani syndrome type 1|spherophakia-brachymorphia syndrome|Weill-Marchesani syndrome caused by mutation in ADAMTS10|Weill-Marchesani syndrome 1|WMS1|Weill-Marchesani syndrome, autosomal recessive|mesodermal Dysmorphodystrophy, congenital|ADAMTS10 Weill-Marchesani syndrome OMIM:277600|Orphanet:3449 owl:Class ENVO:01000340 biolink:NamedThing alpine An altitudinal condition which inheres in a bearer by virtue of the bearer having a monthly mean temperature is less than 10 degrees Celsius and being located at altitudes above the tree line and below the snowline. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0002094 biolink:NamedThing basophilic An affinity inhering in a tissue constituent by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific pH conditions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0100699 biolink:NamedThing Scarring tmpaxzxjjyw_mondo_relaxed.owl Scarring|Scar tissue UMLS:C0008767|MSH:D002921|SNOMEDCT_US:48677004 koehlers 2011-03-29T06:39:56Z human_phenotype owl:Class GO:0034097 biolink:NamedThing response to cytokine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to cytokine stimulus owl:Class GO:0002889 biolink:NamedThing regulation of immunoglobulin mediated immune response Any process that modulates the frequency, rate, or extent of an immunoglobulin mediated immune response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5358 biolink:NamedThing IRF8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4827 biolink:NamedThing HBB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019191 biolink:NamedThing IgG4-related dacryoadenitis and sialadenitis IgG4-related dacryoadenitis and sialoadenitis (Mikulicz disease) is an IgG4-related sclerosing disease characterized by persistent, usually painless, bilateral enlargement of the lacrimal, parotid, and submandibular glands associated with elevated levels of serum immunoglobulin (Ig) G4 and with lymphocyte and IgG4-positive plasmacyte infiltration. It predominantly causes mouth and eye dryness but can also affect other organs such as the lungs, liver, and kidneys, and be accompanied by complications such as autoimmune pancreatitis (AIP), retroperitoneal fibrosis, and tubulointerstitial nephritis. tmpaxzxjjyw_mondo_relaxed.owl chronic dacryoadenitis and sialadenitis|Mikulicz disease (former)|Mikulicz's disease|Mikulicz disease|Mikulicz's disease (former)|Mikulicz syndrome (former) UMLS:C0026103|MESH:D008882|DOID:12900|Orphanet:79078|GARD:0007043|MedDRA:10052317|MedDRA:10051457|SCTID:7826003|NCIT:C34819|ICD10:K11.8 https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis owl:Class MONDO:0013261 biolink:NamedThing dilated cardiomyopathy 1R Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene. tmpaxzxjjyw_mondo_relaxed.owl ACTC1 familial isolated dilated cardiomyopathy|left ventricular noncompaction 4|CMD1R|cardiomyopathy, dilated, 1R|familial isolated dilated cardiomyopathy caused by mutation in ACTC1|dilated cardiomyopathy type 1R|cardiomyopathy, dilated, type 1R DOID:0110456|ICD10:I42.0|OMIM:613424|Orphanet:54260 owl:Class CL:1000314 biolink:NamedThing gastric cardiac gland goblet cell A goblet cell that is part of the epithelium of gastric cardiac gland. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of epithelium of gastric cardiac gland FMA:263038 cell owl:Class N593db3d4acb34a3392c06399f52fd8d2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:3169 biolink:NamedThing S1PR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001088 biolink:NamedThing urine tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010384 biolink:NamedThing lumen of laryngopharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005091 biolink:NamedThing severe acute respiratory syndrome A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death. tmpaxzxjjyw_mondo_relaxed.owl SARS coronavirus disease or disorder|SARS coronavirus infectious disease|SARS coronavirus caused disease or disorder|acute respiratory coronavirus infection|SARS-CoV infection|SARS UMLS:C1175175|NCIT:C85064|SCTID:398447004|Orphanet:140896|DOID:2945|MESH:D045169|ICD9:079.82|GARD:0009237|ICD10:U04.9|EFO:0000694|ICD10:J12.81|MedDRA:10061982 MONDO:0015370 owl:Class UBERON:0002279 biolink:NamedThing vestibular aqueduct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018335 biolink:NamedThing deep dermatophytosis tmpaxzxjjyw_mondo_relaxed.owl disseminated granulomatous dermatophytosis 2022-03-01 Orphanet:397587|ICD10:B35.8 Reason: duplicate. This will be merged with MONDO:0021660 owl:Class MONDO:0015763 biolink:NamedThing mosaic trisomy 2 Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported. tmpaxzxjjyw_mondo_relaxed.owl trisomy 2 mosaicism|Mosaic trisomy chromosome 2|Mosaic trisomy type 2 Orphanet:1723|GARD:0005331|UMLS:CN073991|ICD10:Q92.1|SCTID:764623009 owl:Class UBERON:0001862 biolink:NamedThing vestibular labyrinth tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009432 biolink:NamedThing hypopituitarism, congenital, with central diabetes insipidus tmpaxzxjjyw_mondo_relaxed.owl hypopituitarism, congenital, with central diabetes insipidus UMLS:C1855800|OMIM:241540|MESH:C565477 owl:Class MONDO:0012025 biolink:NamedThing branchiootic syndrome 3 Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene. tmpaxzxjjyw_mondo_relaxed.owl branchiootic syndrome 3|bo syndrome 3|branchiootic syndrome type 3|SIX1 branchiootic syndrome|BOS3|branchiootic syndrome caused by mutation in SIX1 UMLS:C1842124|OMIM:608389|Orphanet:52429|MESH:C564248 owl:Class HGNC:10887 biolink:NamedThing SIX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012723 biolink:NamedThing Leber congenital amaurosis 10 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene. tmpaxzxjjyw_mondo_relaxed.owl amaurosis congenita of Leber, type 10|Leber congenital amaurosis 10|CEP290 Leber congenital amaurosis|LCA10|Leber congenital amaurosis caused by mutation in CEP290|Leber congenital amaurosis type 10 OMIM:611755|ICD10:H35.5|GARD:0010487|MESH:C565720|DOID:0110291 https://rarediseases.info.nih.gov/diseases/10487/leber-congenital-amaurosis-10 owl:Class HGNC:1762 biolink:NamedThing CDH3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002329 biolink:NamedThing somite tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35337 biolink:NamedThing central nervous system stimulant Any drug that enhances the activity of the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl central nervous system stimulant|analeptic|central stimulant|CNS stimulant|analeptics|analeptic agent|analeptic drug owl:Class UBERON:0014403 biolink:NamedThing male anatomical structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014170 biolink:NamedThing complex cortical dysplasia with other brain malformations 3 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene. tmpaxzxjjyw_mondo_relaxed.owl complex cortical dysplasia with other brain malformations type 3|complex cortical dysplasia with other brain malformations caused by mutation in KIF2A|cortical dysplasia, complex, with other brain malformations 3|KIF2A complex cortical dysplasia with other brain malformations|cortical dysplasia, Complex, with Other brain malformations type 3|CDCBM3 OMIM:615411|UMLS:C3809414|DOID:0090134 owl:Class HGNC:6318 biolink:NamedThing KIF2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001072 biolink:NamedThing posterior vena cava tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010816 biolink:NamedThing Qazi Markouizos syndrome Qazi-Markouizos syndrome is characterised principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys. tmpaxzxjjyw_mondo_relaxed.owl Puertorican infant hypotonia syndrome|Dysharmonic skeletal maturation - muscular fibre disproportion|Dysharmonic skeletal maturation muscular fibre disproportion|Qazi-Markouizos syndrome|hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion|Dysharmonic skeletal maturation-muscular fiber disproportion syndrome|PUERTO RICAN infant hypotonia syndrome SCTID:721887007|OMIM:600096|MESH:C536259|GARD:0000371|DOID:0050740|UMLS:C2931142|ICD10:Q87.8|Orphanet:3010 https://rarediseases.info.nih.gov/diseases/371/qazi-markouizos-syndrome owl:Class UBERON:0004473 biolink:NamedThing musculature of face tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033280 biolink:NamedThing nephrotic syndrome 16 tmpaxzxjjyw_mondo_relaxed.owl NPHS16|nephrotic syndrome, type 16|nephrotic syndrome 16 OMIM:617783|UMLS:CN651336|DOID:0080272 owl:Class HGNC:29300 biolink:NamedThing KANK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010161 biolink:NamedThing lumen of blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021276 biolink:NamedThing papilloma of buccal mucosa A papilloma that involves the buccal mucosa. tmpaxzxjjyw_mondo_relaxed.owl buccal mucosa papilloma|papilloma of the buccal mucosa NCIT:C5819|ICD9:210.4|SCTID:448147005|UMLS:C1332641 owl:Class UBERON:0006956 biolink:NamedThing buccal mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009871 biolink:NamedThing nephrogenic zone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014307 biolink:NamedThing Dowling-Degos disease 4 Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene. tmpaxzxjjyw_mondo_relaxed.owl POGLUT1 Dowling-Degos disease|Dowling-Degos disease 4|Dowling-Degos disease type 4|DDD4|Dowling-Degos disease caused by mutation in POGLUT1 UMLS:C3810313|OMIM:615696|Orphanet:79145 owl:Class MONDO:0008736 biolink:NamedThing peroxisome biogenesis disorder 2B tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder type 2B|PBD2B|peroxisome biogenesis disorder 2B UMLS:C0282525|Orphanet:772|OMIM:202370|Orphanet:44|DOID:0080622|UMLS:C3550234 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0010509 biolink:NamedThing intellectual disability, X-linked 104 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic X-linked intellectual disability caused by mutation in FRMPD4|MRX104|intellectual disability, X-linked 104|intellectual disability, X-linked type 104|FRMPD4 non-syndromic X-linked intellectual disability|mental retardation, X-linked 104|mental retardation, X-linked type 104 UMLS:C4310817|OMIM:300983 owl:Class HGNC:29007 biolink:NamedThing FRMPD4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001570 biolink:NamedThing terrestrial ecoregion An ecoregion which is located on a landmass. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000635 biolink:NamedThing planetary landmass A landmass which is part of a planet. tmpaxzxjjyw_mondo_relaxed.owl ground|land owl:Class UBERON:0006068 biolink:NamedThing bone of tail tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014066 biolink:NamedThing mitochondrial complex III deficiency nuclear type 5 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene. tmpaxzxjjyw_mondo_relaxed.owl UQCRC2 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 5|mitochondrial complex III deficiency caused by mutation in UQCRC2|MC3DN5|mitochondrial Complex 3 deficiency, nuclear type 5 OMIM:615160|Orphanet:1460|DOID:0080114|UMLS:C3554608 owl:Class HGNC:12586 biolink:NamedThing UQCRC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014535 biolink:NamedThing hyperproinsulinemia tmpaxzxjjyw_mondo_relaxed.owl hyperproinsulinemia SCTID:237613005|OMIM:616214|ICD9:250.80|UMLS:C0342283|MESH:C562776 owl:Class UBERON:0005096 biolink:NamedThing descending thin limb tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020718 biolink:NamedThing congenital short bowel syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl congenital short bowel syndrome|congenital short bowel syndrome 1|CSBS Orphanet:2301|UMLS:C0021847|OMIM:615237 owl:Class MONDO:0007108 biolink:NamedThing anal canal carcinoma A carcinoma that arises from epithelial cells of the anal canal tmpaxzxjjyw_mondo_relaxed.owl anal canal cancer|cloacogenic carcinoma|anal canal carcinoma|carcinoma of the anal canal|anal canal and perianal gland carcinoma|carcinoma of anal canal|anal canal and perianal gland cancer Orphanet:424013|SCTID:285310000|OMIM:105580|DOID:6126|NCIT:C7489 owl:Class MONDO:0014859 biolink:NamedThing developmental and epileptic encephalopathy, 37 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene. tmpaxzxjjyw_mondo_relaxed.owl DEE37|early infantile epileptic encephalopathy caused by mutation in FRRS1L|epileptic encephalopathy, early infantile, 37; EIEE37|EIEE37|epileptic encephalopathy, early infantile, type 37|FRRS1L early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 37 UMLS:C4310770|DOID:0080435|OMIM:616981 owl:Class HGNC:1362 biolink:NamedThing FRRS1L tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:15455 biolink:NamedThing MBTPS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002454 biolink:NamedThing thyroid adenoma A adenoma that involves the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl thyroid adenoma (disease)|adenoma of thyroid gland|thyroid gland adenoma|thyroid adenoma thyroid adenoma (disease) HP:0000854|DOID:2891|NCIT:C3502|SCTID:255033000|UMLS:C0151468|SCTID:255034006 Editor note: consider merging with follicular thyroid adenoma owl:Class MONDO:0022180 biolink:NamedThing chromosome 16 trisomy tmpaxzxjjyw_mondo_relaxed.owl trisomy chromosome 16|trisomy 16|mosaic trisomy 16 NCIT:C37866|GARD:0007060 https://rarediseases.info.nih.gov/diseases/7060/chromosome-16-trisomy owl:Class UBERON:0010295 biolink:NamedThing substantia propria of sclera tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:173087 biolink:NamedThing Human papillomavirus types tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000238 biolink:NamedThing pestis minor A mild form of bubonic plague characterized by symptoms such as mild fever and lymphadenitis. tmpaxzxjjyw_mondo_relaxed.owl pestis minor|larval plague|ambulatory plague|abortive plague SCTID:186287003|UMLS:C0275757|MEDGEN:546803|ICD9:020.8 Editor note: consider obsoleting owl:Class HP:0012825 biolink:NamedThing Mild Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. tmpaxzxjjyw_mondo_relaxed.owl Mild SNOMEDCT_US:446411000124101|UMLS:C1513302 PATO:0000394, mild. peter 2014-06-06T06:41:33Z human_phenotype owl:Class MONDO:0024410 biolink:NamedThing infection caused by Bifidobacterium A disease caused by infection with Bifidobacterium. tmpaxzxjjyw_mondo_relaxed.owl Bifidobacterium caused disease or disorder|Bifidobacterium infection|Bifidobacterium disease or disorder|Bifidobacterium infectious disease|infection caused by Bifidobacterium UMLS:C1096283|SCTID:721759009 owl:Class NCBITaxon:1678 biolink:NamedThing Bifidobacterium tmpaxzxjjyw_mondo_relaxed.owl Tissieria|Bifidibacterium GC_ID:11|PMID:11594590|PMID:20061504|PMID:8573484|PMID:1742200|PMID:17158978 ncbi_taxonomy owl:Class MONDO:0014710 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the RORC gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in RORC|RORC autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|autosomal recessive MSMD due to complete RORgamma receptor defiency|IMD42|immunodeficiency type 42|autosomal recessive primary immunodeficiency due to RORC mutation|immunodeficiency 42 UMLS:C4225266|Orphanet:477857|OMIM:616622 owl:Class HGNC:10260 biolink:NamedThing RORC tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000018 biolink:NamedThing regulation of DNA recombination Any process that modulates the frequency, rate or extent of DNA recombination, a DNA metabolic process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006310 biolink:NamedThing DNA recombination Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023199 biolink:NamedThing frontonasal dysplasia phocomelic upper limbs tmpaxzxjjyw_mondo_relaxed.owl GARD:0002395 https://rarediseases.info.nih.gov/diseases/2395/frontonasal-dysplasia-phocomelic-upper-limbs owl:Class MONDO:0017441 biolink:NamedThing congenital absence of upper arm and forearm with hand present A congenital malformation in which the upper portion of a limb is either shortened or absent. tmpaxzxjjyw_mondo_relaxed.owl humero-radio-ulnar intercalary transverse meromelia|phocomelia Orphanet:294975|SCTID:22841008|GARD:0012123|NCIT:C34928|ICD10:Q71.1 owl:Class CHEBI:35620 biolink:NamedThing vasodilator agent A drug used to cause dilation of the blood vessels. tmpaxzxjjyw_mondo_relaxed.owl vasodilator agents|vasodilator owl:Class HGNC:9910 biolink:NamedThing RBMX tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001254 biolink:NamedThing urothelium of ureter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001146 biolink:NamedThing suprarenal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:12461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0010401 biolink:NamedThing X-linked myopathy with postural muscle atrophy X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present. tmpaxzxjjyw_mondo_relaxed.owl X-linked myopathy with postural muscle atrophy|myopathy, X-linked, with postural muscle atrophy|XMPMA|Emery-Dreifuss muscular dystrophy 6, X-linked OMIM:300696|UMLS:C2678055|Orphanet:261|Orphanet:98863|DOID:0070251|ICD10:G71.0|Orphanet:178461 owl:Class MONDO:0008165 biolink:NamedThing southeast Asian ovalocytosis Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones. tmpaxzxjjyw_mondo_relaxed.owl ovalocytosis, hereditary hemolytic|ovalocytosis, southeast Asian|hereditary ovalocytosis|stomatocytic elliptocytosis|Melanesian elliptocytosis|Melanesian ovalocytosis|ovalocytosis, Malaysian-Melanesian-Filipino type|elliptocytosis, stomatocytic hereditary|elliptocytosis 4|he, stomatocytic|sao ICD9:282.1|OMIM:166900|ICD10:D58.1|Orphanet:98868|UMLS:C1833690|UMLS:C1862323|Orphanet:288|SCTID:191169008 owl:Class NCBITaxon:10566 biolink:NamedThing Human papillomavirus tmpaxzxjjyw_mondo_relaxed.owl human papillomavirus HPV|Human Papilloma Virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013242 biolink:NamedThing maturity-onset diabetes of the young type 11 Any maturity-onset diabetes of the young in which the cause of the disease is a mutation in the BLK gene. tmpaxzxjjyw_mondo_relaxed.owl maturity-onset diabetes of the young (disease) caused by mutation in BLK|BLK maturity-onset diabetes of the young (disease)|MODY11|maturity-onset diabetes of the young, type 11 DOID:0111109|SCTID:609578001|OMIM:613375|UMLS:C3150618|Orphanet:552 owl:Class HGNC:1057 biolink:NamedThing BLK tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0099550 biolink:NamedThing trans-synaptic signaling, modulating synaptic transmission Cell-cell signaling between presynapse and postsynapse, across the synaptic cleft, that modulates the synaptic transmission properties of the synapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0003723 biolink:NamedThing RNA binding Binding to an RNA molecule or a portion thereof. tmpaxzxjjyw_mondo_relaxed.owl poly(A) RNA binding|poly(A)-RNA binding|base pairing with RNA|poly-A RNA binding owl:Class HGNC:11796 biolink:NamedThing THRA tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000646 biolink:NamedThing lithosphere A lithosphere is the outermost shell of a terrestrial-type planet or natural satellite that is defined by its rigid mechanical properties. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009742 biolink:NamedThing proamniotic cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014317 biolink:NamedThing pancytopenia-developmental delay syndrome tmpaxzxjjyw_mondo_relaxed.owl bone marrow failure syndrome type 2|BMFS2|bone marrow failure syndrome 2|pancytopenia-developmental delay syndrome|Trilineage bone marrow failure-developmental delay syndrome UMLS:C3810350|ICD10:D61.0|OMIM:615715|Orphanet:401764 owl:Class HGNC:26922 biolink:NamedThing ERCC6L2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007281 biolink:NamedThing cataract 4 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the CRYGD gene. tmpaxzxjjyw_mondo_relaxed.owl congenital cataract cerulean type 3|CRYGD cataract (disease)|cataract, Nonnuclear polymorphic congenital|cataract, congenital, cerulean type, 3|cataract, punctate, progressive juvenile-onset|cataract 4, multiple types|cataract (disease) caused by mutation in CRYGD|cataract 4, multiple types, with or without microcornea|CCA3|CTRCT4|cataract 4 multiple types with or without microcornea|cataract, crystalline aculeiform Orphanet:98990|Orphanet:98989|OMIM:115700|Orphanet:98991|Orphanet:91492|Orphanet:98995|DOID:0110234|ICD10:Q12.0 owl:Class HGNC:23151 biolink:NamedThing FERMT3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003650 biolink:NamedThing metatarsal bone of digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010139 biolink:NamedThing isolated thyroid-stimulating hormone deficiency Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis. tmpaxzxjjyw_mondo_relaxed.owl hypothyroidism, congenital, nongoitrous, type 4|thyroid-stimulating hormone deficiency|thyrotropin deficiency, isolated|hypothyroidism, congenital, nongoitrous, 4|pituitary cretinism|thyroid-stimulating hormone, deficiency of|congenital nongoitrous hypothyroidism 4|thyrotropin, biologically inactive|isolated thyrotropin deficiency|congenital nongoitrous hypothryoidism 4|isolated TSH deficiency|TSH deficiency|CHNG4 OMIM:275100|UMLS:C0271789|UMLS:C4082174|Orphanet:90674|DOID:0070123|ICD10:E03.1|GARD:0010129 owl:Class HGNC:12372 biolink:NamedThing TSHB tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11039 biolink:NamedThing Western equine encephalitis virus tmpaxzxjjyw_mondo_relaxed.owl Western equine encephalomyelitis virus GC_ID:1 ncbi_taxonomy owl:Class GO:0035935 biolink:NamedThing androgen secretion The regulated release of an androgen into the circulatory system. Androgens are steroid hormones that stimulate or control the development and maintenance of masculine characteristics in vertebrates. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018674 biolink:NamedThing IgG4-related submandibular gland disease A chronic fibrotic inflammatory process affecting the salivary gland. Signs and symptoms include firm and painful swelling of the salivary gland, often associated with the presence of salivary gland stones. tmpaxzxjjyw_mondo_relaxed.owl Küttner tumor|IgG4-related sialadenitis|chronic sclerosing sialadenitis|Kuttner's tumor|Kuttner tumor Orphanet:449432|SCTID:448131008|ICD10:K11.2|NCIT:C82887 Editor note: check this. Unification based on Kuttner tumor synonym owl:Class MONDO:0016857 biolink:NamedThing blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome Blepharophimosis - epicanthus inversus - ptosis (BPES) due to 3q23 microdeletion is a form of BPES, which in addition to the classical eyelids features of BPES, present genitourinary anomalies, spastic diplegia and speech delay. tmpaxzxjjyw_mondo_relaxed.owl OMIM:110100|Orphanet:261559|UMLS:CN202200|ICD10:Q10.3 owl:Class OBO:CHR_9606-chr3q23 biolink:NamedThing 3q23 (Human) tmpaxzxjjyw_mondo_relaxed.owl 143100000 139000000 hg38 owl:Class MONDO:0013247 biolink:NamedThing Fanconi renotubular syndrome 2 Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. tmpaxzxjjyw_mondo_relaxed.owl Fanconi renotubular syndrome 2|Fanconi syndrome caused by mutation in SLC34A1|FRTS2|SLC34A1 Fanconi syndrome|Fanconi renotubular syndrome type 2 OMIM:613388|UMLS:C3150652|Orphanet:3337 owl:Class MONDO:0012471 biolink:NamedThing Aicardi-Goutieres syndrome 3 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene. tmpaxzxjjyw_mondo_relaxed.owl Aicardi-Goutieres syndrome 3|RNASEH2C -related Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome caused by mutation in RNASEH2C|Aicardi-Goutieres syndrome type 3|AGS3|RNASEH2C Aicardi-Goutieres syndrome UMLS:C1835916|Orphanet:51|OMIM:610329|GARD:0010895|MESH:C563683 owl:Class GO:0044106 biolink:NamedThing cellular amine metabolic process The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group, as carried out by individual cells. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009206 biolink:NamedThing lateral nasal process surface ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004067 biolink:NamedThing lateral nasal prominence tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002293 biolink:NamedThing costochondral joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012496 biolink:NamedThing Koolen-de Vries syndrome A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior. tmpaxzxjjyw_mondo_relaxed.owl microdeletion 17Q21.31 syndrome|KANSL1-related intellectual disability syndrome|chromosome 17q21.31 microdeletion syndrome|KdVS|Koolen de Vries syndrome|KDVS|17q21.31 deletion syndrome|Koolen-DE Vries syndrome|microdeletion 17q21.31 syndrome|Koolen-De Vries syndrome|chromosome 17q21.31 deletion syndrome|chromosome 17Q21.31 deletion syndrome OMIM:610443|MESH:C566476|DOID:0050880|SCTID:717338006|UMLS:CN776874|UMLS:C1864871|GARD:0010727|Orphanet:96169|DOID:0070076|ICD10:Q93.5 Editor note: DOID classifies as non-syndromic but we classify as syndromic owl:Class HGNC:24565 biolink:NamedThing KANSL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006544 biolink:NamedThing erythema infectiosum A self-limited viral infectious disorder caused by the human parvovirus B19. It affects predominantly children and is characterized by the development of a bright red skin eruption in the cheeks. It is followed by a maculopapular skin eruption in the extremities which eventually fades into a lacey pattern. tmpaxzxjjyw_mondo_relaxed.owl fifth disease MESH:D016731|ICD10:B08.3|DOID:8743|SCTID:34730008|EFO:1000693|NCIT:C84695|UMLS:C0085273|ICD9:057.0 owl:Class CL:0000937 biolink:NamedThing pre-natural killer cell Cell committed to natural killer cell lineage that has the phenotype CD122-positive, CD34-positive, and CD117-positive. This cell type lacks expression of natural killer receptor proteins. tmpaxzxjjyw_mondo_relaxed.owl pre-NK cell These cells are also reportedly CD7-low, CD10-negative, CD45RA-positive, alpha-4-beta-7 integrin-high. cell owl:Class UBERON:0009887 biolink:NamedThing interlobar vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013656 biolink:NamedThing intellectual disability, autosomal dominant 9 An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal dominant type 9|autosomal dominant non-syndromic intellectual disability 9|intellectual disability, autosomal dominant type 9|autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A|autosomal dominant mental retardation 9|MRD9|intellectual disability, autosomal dominant 9|autosomal dominant intellectual disability 9|KIF1A autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 9 OMIM:614255|Orphanet:178469|UMLS:C3280283|DOID:0070039|NCIT:C133742 owl:Class HGNC:888 biolink:NamedThing KIF1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001529 biolink:NamedThing brachiocephalic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007204 biolink:NamedThing brachiocephalic vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13841 biolink:NamedThing ADGRG6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:40272 biolink:NamedThing Roseolovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0099643 biolink:NamedThing signal release from synapse Any signal release from a synapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11909 biolink:NamedThing Human T-lymphotropic virus 2 tmpaxzxjjyw_mondo_relaxed.owl HTLV-II|Human lymphotropic virus type 2|Human T-Cell leukemia virus type 2|human T cell leukemia virus II HTLV-II|Human T-cell lymphotropic virus type 2|human T lymphotropic virus type II HTLV-II|human T-cell leukemia virus II|human T-cell lymphotropic virus type II HTLV-II|Human T-lymphotropic virus Type II|HTLV-2|Human T-cell lymphotropic virus type II|Human T-cell leukemia virus type II|Human lymphotropic virus type II GC_ID:1 ncbi_taxonomy owl:Class GO:0034758 biolink:NamedThing positive regulation of iron ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl upregulation of iron ion transport|up regulation of iron ion transport|positive regulation of iron transport|activation of iron ion transport|stimulation of iron ion transport|up-regulation of iron ion transport owl:Class MONDO:0009003 biolink:NamedThing achromatopsia 2 Achromatopsia 2 is a condition that affects the color vision. Most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). Rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. Other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). Achromatopsia 2 is caused by changes (mutations) in the CNGA3 gene and is inherited in an autosomal recessive manner. Although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms. tmpaxzxjjyw_mondo_relaxed.owl colorblindness, total|CNGA3 achromatopsia|rod monochromacy 2|achromatopsia type 2|achromatopsia caused by mutation in CNGA3|rod monochromatism 2|ACHM2|Rod monochromatism 2|RMCH2|achromatopsia 2|Rod monochromacy 2 GARD:0009649|DOID:0110007|UMLS:C1857618|Orphanet:49382|OMIM:216900 https://rarediseases.info.nih.gov/diseases/9649/achromatopsia-2 owl:Class HGNC:2150 biolink:NamedThing CNGA3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008203 biolink:NamedThing pelvic cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005358 biolink:NamedThing Dengue hemorrhagic fever A serious condition caused by Dengue virus infection. Patients present with an acute febrile illness followed by restlessness, irritability, and bleeding. It may lead to hemorrhagic shock and death. tmpaxzxjjyw_mondo_relaxed.owl DHF|Dengue haemorrhagic fever NCIT:C34683|SCTID:20927009|ICD10:A91|DOID:12206|EFO:0004227 owl:Class HP:0001873 biolink:NamedThing Thrombocytopenia A reduction in the number of circulating thrombocytes. tmpaxzxjjyw_mondo_relaxed.owl Low platelet count UMLS:C0040034|SNOMEDCT_US:302215000|UMLS:C0392386|MSH:D013921|SNOMEDCT_US:415116008 Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). HP:0008175|HP:0001906|HP:0004838|HP:0008268|HP:0008302 human_phenotype owl:Class MONDO:0012610 biolink:NamedThing inflammatory bowel disease 10 Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene. tmpaxzxjjyw_mondo_relaxed.owl IBD10|inflammatory bowel disease caused by mutation in ATG16L1|inflammatory bowel disease (Crohn disease) 10|inflammatory bowel disease 10|inflammatory bowel disease type 10|ATG16L1 inflammatory bowel disease UMLS:C1970207|OMIM:611081|DOID:0110885|MESH:C567021 owl:Class MONDO:0012074 biolink:NamedThing mandibuloacral dysplasia with type B lipodystrophy tmpaxzxjjyw_mondo_relaxed.owl MANDIBULOACRAL dysplasia with type B lipodystrophy|mandibuloacral dysplasia with type B lipodystrophy|lipodystrophy, type B, associated with Mandibuloacral dysplasia|MADB GARD:0009989|OMIM:608612|MESH:C535706|Orphanet:90154|UMLS:C1837756|Orphanet:2457|ICD10:Q87.5 https://rarediseases.info.nih.gov/diseases/9989/mandibuloacral-dysplasia-with-type-b-lipodystrophy owl:Class HGNC:12877 biolink:NamedThing ZMPSTE24 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:23159 biolink:NamedThing ALG2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001805 biolink:NamedThing positive regulation of type III hypersensitivity Any process that activates or increases the frequency, rate or extent of type III hypersensitivity, a type of inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl up regulation of type III hypersensitivity|up-regulation of type III hypersensitivity|stimulation of type III hypersensitivity|activation of type III hypersensitivity|upregulation of type III hypersensitivity owl:Class CHEBI:16914 biolink:NamedThing salicylic acid A monohydroxybenzoic acid that is benzoic acid with a hydroxy group at the ortho position. It is obtained from the bark of the white willow and wintergreen leaves. tmpaxzxjjyw_mondo_relaxed.owl o-Hydroxybenzoic acid|2-hydroxybenzoic acid|o-hydroxybenzoic acid|o-carboxyphenol|Salicylic acid|2-carboxyphenol|2-HYDROXYBENZOIC ACID owl:Class CHEBI:35718 biolink:NamedThing antifungal agent An antimicrobial agent that destroys fungi by suppressing their ability to grow or reproduce. tmpaxzxjjyw_mondo_relaxed.owl antifungals|antifungal drug|antifungal drugs|antifungal|antifungal agents owl:Class MONDO:0000927 biolink:NamedThing asymptomatic neurosyphilis tmpaxzxjjyw_mondo_relaxed.owl SCTID:37754005|UMLS:C0153167|ICD10:A52.2|ICD9:094.3|DOID:10035 owl:Class HGNC:26527 biolink:NamedThing HGSNAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0001254 biolink:NamedThing polyploid A kind of chromosome variation where the chromosome complement is an exact multiple of the haploid number and is greater than the diploid number. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008114 biolink:NamedThing joint of girdle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:123 biolink:NamedThing ACP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004502 biolink:NamedThing skeletal muscle tissue of biceps brachii tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29594 biolink:NamedThing UQCRQ tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000002 biolink:NamedThing mitochondrial genome maintenance The maintenance of the structure and integrity of the mitochondrial genome; includes replication and segregation of the mitochondrial chromosome. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011428 biolink:NamedThing ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene. tmpaxzxjjyw_mondo_relaxed.owl ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 3|EEC syndrome caused by mutation in TP63|TP63 EEC syndrome|EEC3|EEC syndrome 3 MESH:C565799|OMIM:604292|ICD10:Q82.4|UMLS:C0406704|DOID:0060783|Orphanet:1896 owl:Class HGNC:15979 biolink:NamedThing TP63 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010905 biolink:NamedThing clavicle bone primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000059 biolink:NamedThing prostate gland microvascular endothelial cell Any microvascular endothelial cell that is part of a prostate gland. tmpaxzxjjyw_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=4400 TermGenie 2014-10-07T17:46:27Z cell owl:Class MONDO:0100058 biolink:NamedThing hypervalinemia and hyperleucine-isoleucinemia Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids. tmpaxzxjjyw_mondo_relaxed.owl hypervalinemia and hyperleucine-isoleucinemia|branched-chain aminotransferase deficiency|HVLI 2018-08-31 20:51:10+00:00 OMIM:618850 MONDO:0030016 owl:Class GO:0002673 biolink:NamedThing regulation of acute inflammatory response Any process that modulates the frequency, rate, or extent of an acute inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001652 biolink:NamedThing atmospheric aerosol An aerosol that is suspended in an atmosphere. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004880 biolink:NamedThing chordamesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008060 biolink:NamedThing nonsyndromic congenital nail disorder 1 Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterised by excessive longitudinal striations and loss of nail luster affecting all 20 nails. tmpaxzxjjyw_mondo_relaxed.owl nail Growth|autosomal dominant nail dysplasia|nail disorder, nonsyndromic congenital, 10|nonsyndromic congenital nail disorder type 1|onychodystrophy totalis|nail disorder, nonsyndromic congenital 1|claw-Shaped nails|nonsyndromic congenital nail disorder type 10|nonsyndromic congenital nail disorder 10|nail disorder, nonsyndromic congenital, 1|FZD6 inherited isolated nail anomaly|autosomal recessive nail dysplasia|idiopathic trachyonychia|trachyonychia|onychodystrophy totalis, isolated|NDNC10|sandpaper nails|twenty nail dystrophy|NDNC1|onychauxis, hyponychia, and onycholysis|nail disorder, nonsyndromic congenital, type 10|twenty-nail dystrophy|inherited isolated nail anomaly caused by mutation in FZD6 GARD:0010363|MESH:C562907|ICD10:L60.3|ICD10:Q84.6|SCTID:238719003|DOID:0080088|OMIM:161050|UMLS:C3279974|ICD9:703.8|DOID:0080079|Orphanet:280654|UMLS:C0406443|Orphanet:79153 owl:Class HP:0007313 biolink:NamedThing Cerebral degeneration tmpaxzxjjyw_mondo_relaxed.owl Neuroaxonal degeneration in the brain SNOMEDCT_US:52522001|UMLS:C0154671|SNOMEDCT_US:418143002 HP:0006874 human_phenotype owl:Class MONDO:0003254 biolink:NamedThing cardiac granular cell neoplasm A very rare granular cell tumor that arises from the heart. tmpaxzxjjyw_mondo_relaxed.owl granular cell neoplasm of the heart|granular cell neoplasm of heart|heart granular cell tumor|granular cell tumor of heart|granular cell tumor of the heart|Cardiac granular cell neoplasm|Cardiac granular cell tumor DOID:5044|UMLS:C1332845|NCIT:C5360 owl:Class OBO:CHR_9606-chr5q14 biolink:NamedThing 5q14 (Human) tmpaxzxjjyw_mondo_relaxed.owl 93000000 77600000 hg38 owl:Class HGNC:6888 biolink:NamedThing MAPKAPK3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004476 biolink:NamedThing musculature of shoulder tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:26605 biolink:NamedThing saponin A glycoside that is a compound containing one or more hydrophilic glycoside moieties combined with a lipophilic triterpenoid or steroid derivative. Found in particular abundance in plant species. tmpaxzxjjyw_mondo_relaxed.owl saponins|sapogenin glycosides|sapogenin glycoside owl:Class CHEBI:26606 biolink:NamedThing sapogenin Any organic polycyclic compound that is the aglycon moiety of a saponin; sapogenins may be steroids or triterpenoids. tmpaxzxjjyw_mondo_relaxed.owl sapogenin|sapogenins owl:Class UBERON:0002026 biolink:NamedThing stratum spinosum of epidermis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002166 biolink:NamedThing rectum lymphoma An extranodal lymphoma that arises from the rectum. The majority are B-cell non-Hodgkin lymphomas. tmpaxzxjjyw_mondo_relaxed.owl primary rectal lymphoma|rectal lymphoma|lymphoma of the rectum|rectum lymphoma|lymphoma of rectum UMLS:C1335685|NCIT:C5553|DOID:1988 owl:Class UBERON:0003470 biolink:NamedThing artery of upper lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015152 biolink:NamedThing gland of ocular region tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:38147 biolink:NamedThing cardiotonic drug A drug that has a strengthening effect on the heart or that can increase cardiac output. tmpaxzxjjyw_mondo_relaxed.owl cardiotonic drugs owl:Class UBERON:0002125 biolink:NamedThing thymus lobule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035006 biolink:NamedThing preputial swelling of female tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006233 biolink:NamedThing female genital tubercle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012132 biolink:NamedThing colorectal cancer, susceptibility to, 1 Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene. tmpaxzxjjyw_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 9|susceptibility to colorectal cancer 1|GALNT12 colorectal cancer|CRCS1|colorectal cancer caused by mutation in GALNT12|colorectal adenoma and cancer, susceptibility to|colorectal cancer, susceptibility to, 1|colorectal cancer, susceptibility to, type 1 OMIM:608812 owl:Class HGNC:19877 biolink:NamedThing GALNT12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016632 biolink:NamedThing isthmus of fallopian tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002350 biolink:NamedThing endocardial cell An endothelial cell that lines the intracavitary lumen of the heart, separating the circulating blood from the underlying myocardium. This cell type releases a number of vasoactive substances including prostacyclin, nitrous oxide and endothelin. tmpaxzxjjyw_mondo_relaxed.owl endothelial cell of endocardium|endocardial endothelial cell FMA:75621 tmeehan 2010-09-21T04:33:05Z CL:1000475 cell owl:Class MONDO:0013554 biolink:NamedThing psoriasis 13, susceptibility to Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene. tmpaxzxjjyw_mondo_relaxed.owl TRAF3IP2 psoriasis|susceptibility to psoriasis 13|PSORS13|psoriasis caused by mutation in TRAF3IP2|psoriasis 13, susceptibility to OMIM:614070|DOID:0111287 owl:Class MONDO:0004374 biolink:NamedThing adult extraskeletal osteosarcoma An osteosarcoma arising from the soft tissue, and occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl adult extraosseous osteosarcoma|extraskeletal osteosarcoma|extraosseous osteosarcoma of adults|adult extraskeletal osteosarcoma UMLS:C0278985|NCIT:C7925|DOID:7827 owl:Class UBERON:0001028 biolink:NamedThing diaphysis of radius tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:23230 biolink:NamedThing UBA5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005868 biolink:NamedThing myelophthisic anemia A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells. tmpaxzxjjyw_mondo_relaxed.owl myelophthisis|anemia, leukoerythroblastic|leukoerythroblastic reaction|leukoerythroblastosis|anemia LEUKOERYTHROBLASTIC EFO:0007388|NCIT:C36218|ICD10:D61.82|ICD9:285.8|MESH:D000750|DOID:2354|SCTID:2694001|UMLS:C0002890 owl:Class MONDO:0017354 biolink:NamedThing infantile glycine encephalopathy Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures. tmpaxzxjjyw_mondo_relaxed.owl infantile non-ketotic hyperglycinemia|infantile onset glycine encephalopathy|infantile NKH|glycine encephalopathy of infancy Orphanet:289860|ICD10:E72.5 owl:Class MONDO:0013589 biolink:NamedThing focal segmental glomerulosclerosis 6 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene. tmpaxzxjjyw_mondo_relaxed.owl MYO1E focal segmental glomerulosclerosis|focal segmental glomerulosclerosis caused by mutation in MYO1E|focal segmental glomerulosclerosis 6|FSGS6|focal segmental glomerulosclerosis type 6|glomerulosclerosis, focal segmental, 6 ICD10:N04.1|Orphanet:656|OMIM:614131|UMLS:C3279905|DOID:0111131 owl:Class HGNC:7599 biolink:NamedThing MYO1E tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10600 biolink:NamedThing SCNN1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008862 biolink:NamedThing 3-methylcrotonyl-CoA carboxylase 2 deficiency Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC2 gene. tmpaxzxjjyw_mondo_relaxed.owl 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency|methylcrotonylglycinuria, type 2|3 alpha methylcrotonylglycinuria 2|3-Methylcrotonyl-CoA carboxylase 2 deficiency|methylcrotonylglycinuria type 2|MCC2 deficiency|MCCC2 3-methylcrotonyl-CoA carboxylase deficiency|3-METHYLCROTONYL-CoA carboxylase 2 deficiency|MCC 2 deficiency|3-methylcrotonylglycinuria 2|3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2|MCC2D MESH:C535309|OMIM:210210|Orphanet:6|GARD:0009151|DOID:0080580 owl:Class HGNC:6937 biolink:NamedThing MCCC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0055078 biolink:NamedThing sodium ion homeostasis Any process involved in the maintenance of an internal steady state of sodium ions within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7711 biolink:NamedThing NDUFS4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003605 biolink:NamedThing eye skin gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010008 biolink:NamedThing sarcosinemia Sarcosinemia is a metabolic disorder characterized by an increased concentration of sarcosine in plasma and urine due to sarcosine dehydrogenase deficiency. tmpaxzxjjyw_mondo_relaxed.owl sarcosine dehydrogenase complex deficiency|SARD deficiency|SARCOS|sarcosinemia|hypersarcosinemia|SARDH deficiency GARD:0000158|MESH:C537236|OMIM:268900|UMLS:C0268563|MedDRA:10059299|Orphanet:3129|ICD9:270.8|SCTID:64852002|ICD10:E72.5 https://rarediseases.info.nih.gov/diseases/158/sarcosinemia owl:Class HGNC:10536 biolink:NamedThing SARDH tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004177 biolink:NamedThing hemopoietic organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014582 biolink:NamedThing congenital myasthenic syndrome 2C A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. tmpaxzxjjyw_mondo_relaxed.owl myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency|CMS2C|congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency|congenital myasthenic syndrome type 2C OMIM:616314|Orphanet:590|DOID:0110680|UMLS:C4225373 owl:Class HGNC:1961 biolink:NamedThing CHRNB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016818 biolink:NamedThing Mikati-Najjar-Sahli syndrome Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). tmpaxzxjjyw_mondo_relaxed.owl microcephaly-hypergonadotropic hypogonadism-short stature syndrome Orphanet:2558|ICD10:E22.8|UMLS:CN202088 owl:Class MONDO:0013771 biolink:NamedThing transient infantile hypertriglyceridemia and hepatosteatosis tmpaxzxjjyw_mondo_relaxed.owl transient infantile hypertriglyceridemia and hepatosteatosis|transient infantile hypertriglyceridemia and fatty liver|HTGTI|hypertriglyceridemia, transient infantile Orphanet:300293|OMIM:614480|UMLS:C3280953 owl:Class MONDO:0014337 biolink:NamedThing complex cortical dysplasia with other brain malformations 5 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene. tmpaxzxjjyw_mondo_relaxed.owl CDCBM5|TUBB2A complex cortical dysplasia with other brain malformations|complex cortical dysplasia with other brain malformations type 5|complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A|cortical dysplasia, Complex, with Other brain malformations type 5|cortical dysplasia, complex, with other brain malformations 5 UMLS:C3810407|DOID:0090135|OMIM:615763 owl:Class MONDO:0012029 biolink:NamedThing microcephaly 6, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene. tmpaxzxjjyw_mondo_relaxed.owl CENPJ autosomal recessive primary microcephaly|MCPH6|autosomal recessive primary microcephaly caused by mutation in CENPJ|microcephaly 6, primary, autosomal recessive DOID:0070290|OMIM:608393|MESH:C564247|UMLS:C1842109 owl:Class MONDO:0015804 biolink:NamedThing infant botulism A botulism that occurs between 28 days to one year of life.. tmpaxzxjjyw_mondo_relaxed.owl infantile botulism|infant intestinal toxemia botulism|botulism of infancy|infant intestinal toxin-mediated botulism|infantile onset botulism|infant intestinal botulism ICD10:A48.51|NCIT:C128343|ICD10:A05.1|DOID:0050354|Orphanet:178478|SCTID:414488002|UMLS:C0238027 owl:Class GO:1903797 biolink:NamedThing positive regulation of inorganic anion transmembrane transport Any process that activates or increases the frequency, rate or extent of inorganic anion transmembrane transport. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of inorganic anion membrane transport|up-regulation of inorganic anion transmembrane transport|positive regulation of transmembrane inorganic anion transport|up regulation of inorganic anion transmembrane transport|activation of transmembrane inorganic anion transport|up-regulation of inorganic anion membrane transport|upregulation of inorganic anion transmembrane transport|activation of inorganic anion membrane transport|up regulation of inorganic anion membrane transport|up regulation of transmembrane inorganic anion transport|up-regulation of transmembrane inorganic anion transport|upregulation of inorganic anion membrane transport|activation of inorganic anion transmembrane transport|upregulation of transmembrane inorganic anion transport owl:Class MONDO:0045044 biolink:NamedThing ligament disorder A disease or disorder that involves the ligament. tmpaxzxjjyw_mondo_relaxed.owl ligament disease or disorder|disease of ligament|disease or disorder of ligament|disorder of ligament SCTID:60492000|UMLS:C0263976 owl:Class MONDO:0021643 biolink:NamedThing mesenteric varices A varicose disease that involves the mesentery. tmpaxzxjjyw_mondo_relaxed.owl mesentery varicose disease|varicose disease of mesentery HP:0002626|SCTID:22949006 owl:Class UBERON:0005617 biolink:NamedThing mesenteric vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr17p1 biolink:NamedThing 17p1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 25100000 0 hg38 owl:Class MONDO:0013408 biolink:NamedThing FADD-related immunodeficiency A rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance. tmpaxzxjjyw_mondo_relaxed.owl infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations|Fadd deficiency|FADD-related immunodeficiency UMLS:C3151062|Orphanet:306550|SCTID:723334006|UMLS:C4509831|OMIM:613759 owl:Class MONDO:0012382 biolink:NamedThing hyperinsulinemic hypoglycemia, familial, 4 Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the HADH gene. tmpaxzxjjyw_mondo_relaxed.owl 3-alpha hydroxyacyl-CoA dehydrogenase deficiency|HADHSC deficiency|hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|HHF4|hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|hyperinsulinemic hypoglycemia due to HADH deficiency|3-hydroxyacyl-Coenzyme A dehydrogenase deficiency|SCHAD deficiency, formerly|3-hydroxyacyl-CoA dehydrogenase deficiency|medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency|SCHAD deficiency|hyperinsulinism due to SCHAD deficiency|3-hydroxylacyl-CoA dehydrogenase deficiency|M-SCHAD deficiency|hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency|HADH hyperinsulinemic hypoglycemia (disease)|L-3-Alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency|hyperinsulinism due to glutamodehydrogenase deficiency|had deficiency|hyperinsulinemic hypoglycemia, familial, type 4|hyperinsulinemic hypoglycemia, familial, 4|HADH deficiency|M/SCHAD|hyperinsulinemic hypoglycemia (disease) caused by mutation in HADH|3-Alpha-hydroxyacyl-Coenzyme A dehydrogenase deficiency GARD:0009870|OMIM:609975|SCTID:721236002|DOID:0070215|Orphanet:71212|UMLS:C4303473|MESH:C566493|OMIM:231530|MESH:C535310|UMLS:C1864948|ICD10:E71.3 https://rarediseases.info.nih.gov/diseases/9870/3-alpha-hydroxyacyl-coa-dehydrogenase-deficiency|https://github.com/monarch-initiative/mondo/issues/3977 owl:Class MONDO:0001857 biolink:NamedThing Brucella canis brucellosis A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has symptom fever, has symptom sweats, has symptom weakness, has symptom weight loss, has symptom headache, has symptom lymphadenopathy and has symptom splenomegaly. tmpaxzxjjyw_mondo_relaxed.owl DOID:14019|UMLS:C0494040|SCTID:428174001|ICD9:023.3|ICD10:A23.3 owl:Class HP:0001744 biolink:NamedThing Splenomegaly Abnormal increased size of the spleen. tmpaxzxjjyw_mondo_relaxed.owl Increased spleen size UMLS:C0038002|MSH:D013163|SNOMEDCT_US:16294009 HP:0001745|HP:0006269 human_phenotype owl:Class MONDO:0010554 biolink:NamedThing Abruzzo-Erickson syndrome Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. tmpaxzxjjyw_mondo_relaxed.owl ABERS|CHARGE-like syndrome, X-linked|CHARGE-like syndrome|CHARGE like syndrome X-linked|cleft palate-coloboma-deafness syndrome|Abruzzo-Erickson syndrome OMIM:302905|UMLS:C1844862|ICD10:Q87.8|MESH:C535559|GARD:0000360|SCTID:718574003|Orphanet:921 https://rarediseases.info.nih.gov/diseases/360/abruzzo-erickson-syndrome owl:Class HGNC:11600 biolink:NamedThing TBX22 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014158 biolink:NamedThing nephronophthisis 16 Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene. tmpaxzxjjyw_mondo_relaxed.owl nephronophthisis (disease) caused by mutation in ANKS6|NPHP16|infantile nephronophthisis|autosomal recessive infantile nephronophthisis|ANKS6 nephronophthisis (disease)|nephronophthisis 16|autosomal recessive infantile NPHP|nephronophthisis type 16 ICD10:Q61.5|DOID:0111124|SCTID:444558002|Orphanet:655|OMIM:615382|UMLS:C3809320 owl:Class HGNC:26724 biolink:NamedThing ANKS6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:55194 biolink:NamedThing Malassezia furfur tmpaxzxjjyw_mondo_relaxed.owl Pityrosporum ovale|Saccharomyces ovalis|Pityrosporum orbiculare|Pityriasis (Tinea) versicolor infection agent GC_ID:1 ncbi_taxonomy owl:Class UBERON:0008789 biolink:NamedThing cranial fossa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020727 biolink:NamedThing combined oxidative phosphorylation deficiency 22 tmpaxzxjjyw_mondo_relaxed.owl COXPD22|combined oxidative phosphorylation deficiency 22|combined oxidative phosphorylation deficiency type 22 Orphanet:254913|DOID:0111498|OMIM:616045 owl:Class HGNC:823 biolink:NamedThing ATP5F1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0045012 biolink:NamedThing steroid metabolism disease A disease that has its basis in the disruption of steroid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl steroid metabolic process disease|disorder of steroid metabolism|disorder of steroid metabolic process|steroid metabolism disease UMLS:C0268283|SCTID:28710006 owl:Class GO:0005984 biolink:NamedThing disaccharide metabolic process The chemical reactions and pathways involving any disaccharide, sugars composed of two monosaccharide units. tmpaxzxjjyw_mondo_relaxed.owl disaccharide metabolism owl:Class MONDO:0019838 biolink:NamedThing adenohypophysitis An autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. It predominantly affects young women in pregnancy or the peripartum period. tmpaxzxjjyw_mondo_relaxed.owl lymphocytic adenohypophysitis|anterior pituitary hypophysitis|adenohypophysis inflammation|inflammation of adenohypophysis ICD10:E23.6|Orphanet:95512 owl:Class MONDO:0005798 biolink:NamedThing HIV-associated nephropathy Renal disease in human immunodeficiency virus (HIV)-infected patients. It is characterized by nephrotic syndrome, azotemia, normal to large kidneys on ultrasound images, and focal segmental glomerulosclerosis on renal biopsy findings. tmpaxzxjjyw_mondo_relaxed.owl HIV nephropathy|HIVAN|AIDS-associated nephropathy|AIDS-related nephropathy EFO:0007313|UMLS:C0078911|MESH:D016263|NCIT:C26918 owl:Class MONDO:0100268 biolink:NamedThing peroxisome biogenesis disorder due to PEX14 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene. tmpaxzxjjyw_mondo_relaxed.owl PEX14 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX14 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:8856 biolink:NamedThing PEX14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class N9046263df0d34a01bd689d5c303c9a93 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0012074 biolink:NamedThing bony part of hard palate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011767 biolink:NamedThing right recurrent laryngeal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5213 biolink:NamedThing HSD17B4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003526 biolink:NamedThing respiratory system capillary tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003510 biolink:NamedThing Severe short stature A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. tmpaxzxjjyw_mondo_relaxed.owl Proportionate dwarfism|Short stature, severe|Severe short stature|Dwarfism|Short stature, extreme SNOMEDCT_US:422065006|MSH:D004392|SNOMEDCT_US:237836003|SNOMEDCT_US:237837007|UMLS:C0013336 The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm). HP:0008920|HP:0001516|HP:0008907|HP:0008884|HP:0008930|HP:0008867|HP:0001424|HP:0003504 human_phenotype owl:Class MONDO:0003994 biolink:NamedThing botryoid-type embryonal rhabdomyosarcoma of the vagina A morphologic variant of embryonal rhabdomyosarcoma arising from the vagina. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules within an abundant myxoid stroma. tmpaxzxjjyw_mondo_relaxed.owl botryoid-type embryonal rhabdomyosarcoma of the vagina|sarcoma Botryoides of the vagina|botryoid rhabdomyosarcoma of vagina|vagina botryoid rhabdomyosarcoma NCIT:C40268|DOID:6788|UMLS:C1511275 owl:Class MONDO:0008057 biolink:NamedThing Carney complex, type 1 Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene. tmpaxzxjjyw_mondo_relaxed.owl Carney complex, type 1|name syndrome|Carney complex caused by mutation in PRKAR1A|myxoma, spotty pigmentation, and endocrine overactivity|CNC1|Carney Myxoma-endocrine Complex|lamb syndrome|PRKAR1A Carney complex|Carney syndrome OMIM:160980|Orphanet:1359 owl:Class UBERON:0007119 biolink:NamedThing neck of femur tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013960 biolink:NamedThing sinoatrial node dysfunction and deafness Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress. tmpaxzxjjyw_mondo_relaxed.owl sinoatrial node dysfunction and deafness|SANDD Orphanet:324321|UMLS:C3554018|OMIM:614896 owl:Class HGNC:1366 biolink:NamedThing ADAMTS13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004053 biolink:NamedThing external male genitalia tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009194 biolink:NamedThing immunodeficiency 32B A rare progressive disease that begins as a primary Epstein-Barr virus (EBV) infection. In this type of infection, the body makes too many lymphocytes (lymphoproliferative disease) for a period of more than 6 months duration. Lymphocytes are a type of white blood cell. They are an importantpart ofthe immune system because they help fight off diseases and protect the body from infection byproducing antibodies against viruses or bacteria and regulating immune responses. In CAEBV there are many antibodies againstEBV in the blood.Most people (about 95% of adults) get infected with EBV at some point in their lives, and never have any health problems.However, EBV can cause infectiousmononucleosis and other illnesses, and has a role in various autoimmune diseases and some types of cancer. While most infections occurring during childhood do not cause any symptoms,EBV infection in adolescents or young adults can often result in mononucleosis.After an EBV infection, the virus becomes latent (inactive) in the body, and, in some cases, the virus may reactivate. This does not always cause symptoms, but people with weakened immune systems are more likely to develop symptoms if EBV reactivates.In rare cases, people infected with EBV develop chronic active EBV virus infection(CAEBV) without apparent immunodeficiency. Most cases of CAEBV have been reported from Japan. These patientshave some of the complications found in otherwise-healthy patients with acute EBV infection, but unlike healthy patients, these complications persist and progress. Symptoms of CAEBV most often include fever, liverdysfunction, an enlarged spleen (splenomegaly), swollen lymph nodes (lymphadenopathy), and low numbers of platelets (thrombocytopenia) as well as high EBV-DNA load in the blood. Other features that appear in more than 10% of patients include enlarged liver (hepatomegaly), anemia, hypersensitivity to mosquito bites, rash, oral ulcers, hemophagocytic syndrome, coronary artery aneurysms, liver failure, lymphoma, and interstitial pneumonia. While the cause is yet unknown, researchers have identified defects in T cells or natural killer (NK) cells activity which results in a decreased defense against the EBV in people with CAEBV.It is important to note that the fatigue and malaise from acute infectious mononucleosis (IM)varies from mild symptoms lasting only a few weeks, to more severe symptoms of fatigue that can persist for several months, or even up to a year or more in up to 10% of patients (which may be considered a less severe form of chronicEBV infection). The persistence of fatigue that is seen in some patients after acute IM would lead some people to believe that EBV may also cause cases of chronic fatigue syndrome (CFS). However, no convincing link has been found between EBV and CFS.Hematopoietic stemcell transplantation has shown promise in the treatment of CAEBV. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 32B|chronic active Epstein-Barr virus infection|CAEBV syndrome|CEBV|IRF8 deficiency, autosomal recessive|chronic Epstein-Barr virus infection syndrome|chronic active Epstein-Barr disease|monocyte and dendritic cell deficiency, autosomal recessive|IMD32B|chronic EBV infection syndrome|Epstein-Barr VIRUS, susceptibility to chronic infection by|immunodeficiency 32B, monocyte, Dendritic cell, and natural Killer cell deficiency, autosomal recessive|CAEBV infection GARD:0009534|ICD10:B27.0|OMIM:614894|Orphanet:2566|OMIM:226990 https://rarediseases.info.nih.gov/diseases/9534/chronic-active-epstein-barr-virus-infection owl:Class MONDO:0013601 biolink:NamedThing gluthathione peroxidase deficiency tmpaxzxjjyw_mondo_relaxed.owl GPXD|gluthathione peroxidase deficiency|glutathione peroxidase deficiency OMIM:614164|SCTID:234590006|UMLS:C0398747 owl:Class HGNC:4553 biolink:NamedThing GPX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013350 biolink:NamedThing mitochondrial DNA depletion syndrome 4b tmpaxzxjjyw_mondo_relaxed.owl mitochondrial DNA depletion syndrome type 4b|mitochondrial neurogastrointestinal encephalopathy syndrome, Polg-related|MTDPS4B|mitochondrial DNA depletion syndrome 4B (MNGIE type)|Mngie, Polg-related OMIM:613662|Orphanet:298|UMLS:C3150914|DOID:0080123 owl:Class HGNC:9179 biolink:NamedThing POLG tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19317 biolink:NamedThing P3H2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005745 biolink:NamedThing Enoplea infectious disease Infections with nematodes of the order enoplida. tmpaxzxjjyw_mondo_relaxed.owl Enoplea disease or disorder|Enoplea caused disease or disorder EFO:0007253|MESH:D017189 owl:Class NCBITaxon:119088 biolink:NamedThing Enoplea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0009568 biolink:NamedThing trunk region of vertebral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014257 biolink:NamedThing nephrotic syndrome, type 9 Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene. tmpaxzxjjyw_mondo_relaxed.owl NPHS9|nephrotic syndrome, type 9|nephrotic syndrome caused by mutation in COQ8B|COQ8B nephrotic syndrome OMIM:615573|Orphanet:656|DOID:0080391|UMLS:C3809965 owl:Class HGNC:19041 biolink:NamedThing COQ8B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011528 biolink:NamedThing hyper-IgM syndrome type 2 A hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency with hyper IgM type 2|AICDA hyper-IgM syndrome|hyper-IgM syndrome 2|immunodeficiency with hyper-IgM, type 2|hyper-IgM syndrome type 2|Activation-induced cytidine deaminase deficiency|immunodeficiency with hyper-IgM type 2|aid deficiency|activation-induced cytidine deaminase deficiency|hyper-IgM syndrome caused by mutation in AICDA|HIGM2|hyper IgM syndrome 2 OMIM:605258|Orphanet:101089|NCIT:C129074|GARD:0010578|DOID:0060758|Orphanet:183666|SCTID:403836001|ICD10:D80.5 https://rarediseases.info.nih.gov/diseases/10578/immunodeficiency-with-hyper-igm-type-2 owl:Class HGNC:13203 biolink:NamedThing AICDA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011828 biolink:NamedThing intellectual disability, autosomal recessive 2 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene. tmpaxzxjjyw_mondo_relaxed.owl CRBN autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 2|intellectual disability, autosomal recessive 2A|mental retardation, autosomal recessive 2|intellectual disability, autosomal recessive type 2|intellectual disability, autosomal recessive 2|mental retardation, autosomal recessive 2A|MRT2|autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN OMIM:607417|UMLS:C1843942|MESH:C564404 owl:Class MONDO:0006390 biolink:NamedThing prostate small cell carcinoma A neuroendocrine carcinoma of the prostate gland with unfavorable prognosis, composed of small cells containing neurosecretory granules. Approximately half of the cases show a mixture of small cells and adenocarcinoma cells. tmpaxzxjjyw_mondo_relaxed.owl PRSCC|Oat cell carcinoma of prostate|small cell carcinoma of the prostate|prostate oat cell carcinoma|prostate Oat cell carcinoma|small cell carcinoma of prostate|prostate small cell neuroendocrine carcinoma|Oat cell carcinoma of the prostate|prostate small cell NEC|prostate gland small cell carcinoma|small cell carcinoma of prostate gland|prostate small cell carcinoma UMLS:C1300585|DOID:7141|ONCOTREE:PRSCC|SCTID:396198006|EFO:1000499|NCIT:C6766 Editor note: DO classifies as lung oat cell carcinoma owl:Class MONDO:0003636 biolink:NamedThing vulvar sebaceous carcinoma A carcinoma that arises from the vulva. It is characterized by the presence of malignant basaloid glandular epithelial cells that resemble sebaceous epithelium and are arranged in cords and nests. tmpaxzxjjyw_mondo_relaxed.owl mammalian vulva sebaceous adenocarcinoma|sebaceous adenocarcinoma of mammalian vulva DOID:5761|UMLS:C1520094|NCIT:C40309 owl:Class HGNC:11998 biolink:NamedThing TP53 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010070 biolink:NamedThing intermediate layer of tympanic membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:15956 biolink:NamedThing biotin An organic heterobicyclic compound that consists of 2-oxohexahydro-1H-thieno[3,4-d]imidazole having a valeric acid substituent attached to the tetrahydrothiophene ring. The parent of the class of biotins. tmpaxzxjjyw_mondo_relaxed.owl cis-Tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid|biotinum|cis-(+)-Tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid|5-(2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl)pentanoic acid|Coenzyme R|5-[(3aS,4S,6aR)-2-oxohexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid|(3aS,4S,6aR)-Hexahydro-2-oxo-1H-thieno[3,4-d]imidazole-4-valeric acid|D-(+)-biotin|BIOTIN|biotina|vitamin B7|D-Biotin|Vitamin H|cis-Hexahydro-2-oxo-1H-thieno(3,4)imidazole-4-valeric acid|(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid|biotine|biotin owl:Class GO:0033341 biolink:NamedThing regulation of collagen binding Any process that modulates the frequency, rate or extent of collagen binding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005518 biolink:NamedThing collagen binding Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007381 biolink:NamedThing epithelial recurrent erosion dystrophy Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision. tmpaxzxjjyw_mondo_relaxed.owl corneal erosions, recurring hereditary|dystrophia Helsinglandica|dystrophia Smolandiensis|recurrent hereditary corneal erosions|epithelial recurrent erosion dystrophy|ERED SCTID:715908008|OMIM:122400|Orphanet:293381|ICD10:H18.5|MESH:C565155|DOID:0070337|UMLS:C1852551 owl:Class HGNC:2194 biolink:NamedThing COL17A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005997 biolink:NamedThing tricuspid valve stenosis Narrowing or stricture of the tricuspid orifice of the heart. tmpaxzxjjyw_mondo_relaxed.owl tricuspid stenosis MESH:D014264|DOID:4078|HP:0010446|SCTID:49915006|EFO:0007525|UMLS:C0040963|NCIT:C50783 owl:Class PATO:0001190 biolink:NamedThing juvenile A maturity quality inhering in a bearer by virtue the bearer's being not fully grown or developed. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011579 biolink:NamedThing late-onset retinal degeneration Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease. tmpaxzxjjyw_mondo_relaxed.owl LORD|pigmentary retinopathy|retinal Degeneration, late-onset, autosomal dominant|autosomal dominant late-onset retinal degeneration|late-onset retinal degeneration GARD:0004357|OMIM:605670|MESH:C565309|DOID:0060869|Orphanet:67042|UMLS:C1854065|SCTID:719431007 owl:Class OBO:CHR_9606-chr22q biolink:NamedThing 22q (Human) tmpaxzxjjyw_mondo_relaxed.owl 50818468 15000000 hg38 owl:Class MONDO:0018755 biolink:NamedThing scorpion envenomation Scorpion envenomation is a rare intoxication caused by a scorpion sting which typically manifests with localized pain, edema, erythema, and paresthesias at the site of the sting and, when severe, progresses to produce systemic symptoms of variable severity that include respiratory difficulties, abnormal systemic blood pressure, cardiac arrhythmia, and a combination of parasympathetic (i.e. excessive salivation and lacrimation, diaphoresis, miosis, frequent urination, diarrhea, vomiting, priapism) and sympathetic (e.g. hyperthermia, hyperglycemia, mydriasis) manifestations. Neurological manifestations may also be associated, such as abnormal eye movements, blurred vision, agitation and restlessness, as well as muscle fasciculations and spasms. Signs and symptoms are highly variable and in most severe cases may lead to cardiogenic shock and pulmonary edema. tmpaxzxjjyw_mondo_relaxed.owl poisoning due to scorpion venom|toxic effect of venom of scorpion|poisoning caused by scorpion venom Orphanet:466677|ICD10:T63.2|UMLS:CN242103|SCTID:217670007 owl:Class UBERON:0004228 biolink:NamedThing urinary bladder smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr5q22 biolink:NamedThing 5q22 (Human) tmpaxzxjjyw_mondo_relaxed.owl 115900000 110200000 hg38 owl:Class UBERON:0001605 biolink:NamedThing ciliary muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003273 biolink:NamedThing sternum cancer A malignant neoplasm involving the sternum tmpaxzxjjyw_mondo_relaxed.owl neoplasm of sternum|malignant sternal tumor|sternum cancer|malignant sternum neoplasm|malignant neoplasm of sternum|cancer of sternum|malignant tumor of the sternum|malignant neoplasm of the sternum|malignant sternal neoplasm|malignant tumor of sternum UMLS:C1382025|DOID:5090|SCTID:126559003|UMLS:C1290244|NCIT:C8408|NCIT:C6730 owl:Class HGNC:2877 biolink:NamedThing DIAPH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012941 biolink:NamedThing inflammatory bowel disease 25 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene. tmpaxzxjjyw_mondo_relaxed.owl IBD25|inflammatory bowel disease, early-onset, autosomal recessive|inflammatory bowel disease 25, autosomal recessive|inflammatory bowel disease type 25|early onset autosomal recessive inflammatory bowel disease 25|IL10RB inflammatory bowel disease|inflammatory bowel disease caused by mutation in IL10RB MESH:C567251|OMIM:612567|UMLS:C2675508|DOID:0110909|Orphanet:238569 owl:Class HGNC:5965 biolink:NamedThing IL10RB tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11135 biolink:NamedThing Feline infectious peritonitis virus tmpaxzxjjyw_mondo_relaxed.owl FIPV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013579 biolink:NamedThing methylmalonate semialdehyde dehydrogenase deficiency tmpaxzxjjyw_mondo_relaxed.owl developmental delay due to MMSDH deficiency|methylmalonate semialdehyde dehydrogenase deficiency|MMSDHD|MMSDH deficiency|developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency|developmental delay due to ALDH6A1 deficiency OMIM:614105|Orphanet:289307|ICD10:E71.1|UMLS:C3279840|MESH:C566402 owl:Class HGNC:7179 biolink:NamedThing ALDH6A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005425 biolink:NamedThing presumptive neural retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011143 biolink:NamedThing upper urinary tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr15q11 biolink:NamedThing 15q11 (Human) tmpaxzxjjyw_mondo_relaxed.owl 25500000 19000000 hg38 owl:Class MONDO:0000333 biolink:NamedThing early congenital syphilis A congenital syphilis that is manifested between 0 and 2 years old. tmpaxzxjjyw_mondo_relaxed.owl Early congenital syphilis (less than 2 years) ICD9:090.2|SCTID:4359001|UMLS:C0275859|DOID:0050488 owl:Class HGNC:18865 biolink:NamedThing KCNT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014661 biolink:NamedThing epidermolysis bullosa simplex with nail dystrophy tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa simplex with nail dystrophy|EBSND UMLS:C4225309|OMIM:616487 owl:Class MONDO:0014786 biolink:NamedThing IgA nephropathy, susceptibility to, 3 Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene. tmpaxzxjjyw_mondo_relaxed.owl IgA nephropathy, susceptibility to, 3; IGAN3|IgA nephropathy, susceptibility to, 3|IgA glomerulonephritis caused by mutation in SPRY2|IGAN3|susceptibility to IgA nephropathy 3|SPRY2 IgA glomerulonephritis|IgA nephropathy, susceptibility to, type 3 OMIM:616818 owl:Class HGNC:22962 biolink:NamedThing MED13L tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6685 biolink:NamedThing LRAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0007004 biolink:NamedThing premigratory neural crest cell Cell that is part of the neural crest region of the neuroepithelium, prior to migration. Note that not all premigratory neural crest cells may become migratory neural crest cells. tmpaxzxjjyw_mondo_relaxed.owl haendel 2012-06-27T08:27:35Z cell owl:Class UBERON:0012468 biolink:NamedThing anal tooth tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014191 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 5 Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene. tmpaxzxjjyw_mondo_relaxed.owl catecholaminergic polymorphic ventricular tachycardia type 5|CVPT5|CPVT5|TRDN catecholaminergic polymorphic ventricular tachycardia|catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN|catecholaminergic polymorphic ventricular tachycardia 5|ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness OMIM:615441|UMLS:C3809536|ICD10:I47.2|Orphanet:3286|DOID:0060679 owl:Class HGNC:12261 biolink:NamedThing TRDN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009061 biolink:NamedThing cystic fibrosis Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity. tmpaxzxjjyw_mondo_relaxed.owl cystic fibrosis|CF|mucoviscidosis NCIT:C2975|ICD10:E84.0|Orphanet:586|OMIM:219700|ICD10:E84|UMLS:C0010674|SCTID:190905008|ICD9:277.0|GARD:0006233|MESH:D003550|MedDRA:10011762|DOID:1485|ICD10:E84.9|ICD10:E84.8|ICD10:E84.1 https://rarediseases.info.nih.gov/diseases/6233/cystic-fibrosis owl:Class HGNC:26600 biolink:NamedThing WDR81 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:24725 biolink:NamedThing FAM111A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014872 biolink:NamedThing congenital stationary night blindness 1H Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene. tmpaxzxjjyw_mondo_relaxed.owl GNB3 congenital stationary night blindness|congenital stationary night blindness caused by mutation in GNB3|congenital stationary night blindness type 1H|night blindness, congenital stationary, type 1H|CSNB1H UMLS:C4310758|DOID:0110866|OMIM:617024 owl:Class HGNC:4400 biolink:NamedThing GNB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042113 biolink:NamedThing B cell activation The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. tmpaxzxjjyw_mondo_relaxed.owl B lymphocyte activation|B-cell activation|B-lymphocyte activation owl:Class GO:0015149 biolink:NamedThing hexose transmembrane transporter activity Enables the transfer of a hexose sugar, a monosaccharide with 6 carbon atoms, from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000344 biolink:NamedThing Ross river fever A disease caused by infection with Ross River virus. tmpaxzxjjyw_mondo_relaxed.owl Ross River virus caused disease or disorder|Ross River virus disease|Ross River virus disease or disorder|Ross River virus infectious disease UMLS:C0035865|DOID:0050518|SCTID:602001 owl:Class HGNC:2074 biolink:NamedThing CLN3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:496 biolink:NamedThing RIPK4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009581 biolink:NamedThing midbrain mantle layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:60895 biolink:NamedThing D-alpha-amino acid anion Any alpha-amino acid anion in which the parent amino acid has D-configuration. tmpaxzxjjyw_mondo_relaxed.owl D-alpha-amino acid anions|D-alpha-amino carboxylate owl:Class HP:0003198 biolink:NamedThing Myopathy A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. tmpaxzxjjyw_mondo_relaxed.owl Muscle tissue disease|Myopathic changes UMLS:C0026848|SNOMEDCT_US:129565002|MSH:D009135 The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. HP:0003569|HP:0003705|HP:0003742|HP:0003802 human_phenotype owl:Class MONDO:0016778 biolink:NamedThing iatrogenic botulism Iatrogenic botulism is the most recent man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and it may occur as an adverse event after therapeutic or cosmetic use. tmpaxzxjjyw_mondo_relaxed.owl inadvertent botulism|accidental botulism NCIT:C128345|Orphanet:254509|ICD10:A05.1|UMLS:C4288922 owl:Class MONDO:0100426 biolink:NamedThing iatrogenic A characteristic of a diseae which results from diagnostic and therapeutic procedures undertaken on a patient. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013658 biolink:NamedThing intellectual disability, autosomal dominant 11 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant intellectual disability 11|EPB41L1 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant type 11|mental retardation, autosomal dominant 11|intellectual disability, autosomal dominant 11|mental retardation, autosomal dominant type 11|autosomal dominant mental retardation 11|MRD11|autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1|autosomal dominant non-syndromic intellectual disability 11 OMIM:614257|UMLS:C3280285|DOID:0070041 owl:Class HGNC:3378 biolink:NamedThing EPB41L1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016481 biolink:NamedThing bronchial lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000499 biolink:NamedThing Abnormal eyelash morphology An abnormality of the eyelashes. tmpaxzxjjyw_mondo_relaxed.owl Abnormal eyelashes|Abnormality of the eyelashes|Eyelash abnormality UMLS:C2675111 HP:0004530 human_phenotype owl:Class UBERON:0012250 biolink:NamedThing cervix glandular epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14450 biolink:NamedThing LPIN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013800 biolink:NamedThing Ehlers-Danlos syndrome, kyphoscoliotic and deafness type A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment. tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type|Ehlers-Danlos syndrome, kyphoscoliotic and deafness type|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|EDS with progressive kyphoscoliosis, myopathy, and deafness|EDS with progressive kyphoscoliosis, myopathy, and hearing loss|EDSKSCL2|EDSKMH|Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|EDS, kyphoscoliotic and hearing loss type|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 Orphanet:300179|OMIM:614557|ICD10:Q79.6|SCTID:720859009|UMLS:C3281160 https://github.com/monarch-initiative/mondo/issues/4220 owl:Class HGNC:18625 biolink:NamedThing FKBP14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6297 biolink:NamedThing KCNQ3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025370 biolink:NamedThing urogenital neoplasm Tumors or cancer of the urogenital system in either the male or the female. tmpaxzxjjyw_mondo_relaxed.owl genito-urinary neoplasm|urogenital neoplasm|neoplasms, genitourinary|genitourinary neoplasm|genitourinary neoplasms|neoplasm, genitourinary|neoplasm, urogenital|genitourinary system neoplasm|neoplasm, genito-urinary|genitourinary system tumor|tumor of genitourinary system|genito-urinary neoplasms|neoplasm of genitourinary system|neoplasms, genito-urinary|neoplasms, urogenital EFO:0003863|MESH:D014565 owl:Class MONDO:0013504 biolink:NamedThing spermatogenic failure 8 Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene. tmpaxzxjjyw_mondo_relaxed.owl SPGF8|spermatogenic failure 8|spermatogenic failure type 8|azoospermia caused by mutation in NR5A1|NR5A1 azoospermia OMIM:613957|DOID:0070169|UMLS:C3151406|Orphanet:399805 owl:Class CL:0002092 biolink:NamedThing bone marrow cell A cell found in the bone marrow. This can include fibroblasts, macrophages, adipocytes, osteoblasts, osteoclasts, endothelial cells and hematopoietic cells. tmpaxzxjjyw_mondo_relaxed.owl FMA:83621|BTO:0004850 MH consider whether bone marrow cells are bone cells in the structural sense vs. being part of bone organ sense. tmeehan 2010-07-22T04:48:15Z cell owl:Class MONDO:0006661 biolink:NamedThing ascorbic acid deficiency A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into scurvy in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177) tmpaxzxjjyw_mondo_relaxed.owl MESH:D001206|MedDRA:10047623|SCTID:76169001|ICD9:267|ICD10:E54|EFO:1000822 owl:Class MONDO:0020082 biolink:NamedThing dendritic cell tumor A dendritic cell tumor develops from the cells of the immune system. This condition typically begins in the lymph system and may spread to nearby organs or distant parts of the body (metastasize). There are five subtypes of dendritic cell tumors: follicular dendritic cell tumor, interdigitating dendritic cell tumor, Langerhans' cell histiocytosis, Langerhans' cell sarcoma, and dendritic cell sarcoma not specified otherwise. The symptoms and severity of the condition depend on the subtype and location of the tumor. Treatment may include surgery, radiation therapy, and/or chemotherapy. tmpaxzxjjyw_mondo_relaxed.owl Dendritic cell sarcoma, NOS|Dendritic cell tumor, NOS|Dendritic cell tumor, Not otherwise specified|Dendritic cell neoplasm|Dendritic cell sarcoma, Not otherwise specified UMLS:CN206984|NCIT:C27260|SCTID:737223000|Orphanet:98289|UMLS:C1260325|GARD:0008317|ICD10:C96.4 https://rarediseases.info.nih.gov/diseases/8317/dendritic-cell-tumor owl:Class MONDO:0017291 biolink:NamedThing reversible cerebral vasoconstriction syndrome Reversible cerebral vasoconstriction syndrome (RCVS) is an infrequent cerebrovascular disorder characterized by severe headaches with or without focal neurological deficits or seizures, and a reversible segmental and multifocal vasoconstriction of cerebral arteries. tmpaxzxjjyw_mondo_relaxed.owl RCVS UMLS:C3544214|ICD10:I67.8|Orphanet:284388|SCTID:700467001|ICD9:437.8|GARD:0012768 https://rarediseases.info.nih.gov/diseases/12768/reversible-cerebral-vasoconstriction-syndrome owl:Class MONDO:0009294 biolink:NamedThing glycogen storage disease VI Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease. tmpaxzxjjyw_mondo_relaxed.owl hers disease|GSD type VI|glycogen storage disease caused by mutation in PYGL|glycogen storage disease type 6|GSD6|hepatic phosphorylase deficiency|GSD due to liver glycogen phosphorylase deficiency|glycogenosis due to liver glycogen phosphorylase deficiency|glycogen storage disease 6|glycogen storage disease VI|GSD type 6|glycogenosis type 6|glycogen storage disease due to liver glycogen phosphorylase deficiency|hers' disease|liver glycogen phosphorylase deficiency|hepatophosphorylase deficiency glycogenosis|GSD 6|glycogen storage disease type VI|hepatic glycogen phosphorylase deficiency|phosphorylase deficiency glycogen-storage disease of liver|glycogenosis type VI|PYGL glycogen storage disease NCIT:C126875|Orphanet:369|ICD10:E74.09|SCTID:29291001|ICD10:E74.0|DOID:2754|UMLS:C0017925|GARD:0006529|MedDRA:10053240|OMIM:232700|MESH:D006013 owl:Class HGNC:9725 biolink:NamedThing PYGL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014290 biolink:NamedThing neurodegeneration with brain iron accumulation 6 COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder. tmpaxzxjjyw_mondo_relaxed.owl neurodegeneration with brain iron accumulation 6|NBIA6|neurodegeneration with brain iron accumulation caused by mutation in COASY|COASY protein-associated neurodegeneration|neurodegeneration with brain iron accumulation type 6|COASY neurodegeneration with brain iron accumulation|neurodegeneration with brain iron accumulation due to COASY mutation|CoPAN GARD:0012571|DOID:0110740|Orphanet:397725|SCTID:732264002|ICD10:G23.0|UMLS:C3810230|OMIM:615643 owl:Class HGNC:29932 biolink:NamedThing COASY tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001260 biolink:NamedThing Dysarthria Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. tmpaxzxjjyw_mondo_relaxed.owl Dysarthric speech|Difficulty articulating speech SNOMEDCT_US:8011004|UMLS:C0013362|MSH:D004401 HP:0002327 human_phenotype owl:Class UBERON:0004665 biolink:NamedThing muscular coat of seminal vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29357 biolink:NamedThing ASXL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001156 biolink:NamedThing Brachydactyly Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. tmpaxzxjjyw_mondo_relaxed.owl Brachydactyly syndrome|Short fingers or toes UMLS:C0221357|SNOMEDCT_US:43476002|MSH:D059327 HP:0100667|HP:0006128|HP:0005630|HP:0001189|HP:0005657|HP:0005727|HP:0006017|HP:0001201 human_phenotype owl:Class MONDO:0009662 biolink:NamedThing mucopolysaccharidosis type 7 Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. tmpaxzxjjyw_mondo_relaxed.owl deficiency of beta-glucuronidase|Beta-glucuronidase deficiency|Gus deficiency|MPS VII - mucopolysaccharidosis VII|MPS VII|beta-glucuronidase deficiency|Sly disease|Sly syndrome|mucopolysaccharidosis, type VII|mucopolysaccharidosis, type 7|mucopolysaccharidosis type 7|Gusb deficiency|MPS7|MPSVII|MPS VII - Sly syndrome|MPS 7|mucopolysaccharidosis, mps-VII|mucopolysaccharidosis type VII|gusb deficiency|mucopolysaccharidosis VII DOID:12803|ICD10:E76.2|OMIM:253220|SCTID:43916004|MedDRA:10056893|ICD10:E76.29|MESH:D016538|NCIT:C84903|UMLS:C0085132|GARD:0007096|Orphanet:584 owl:Class OBO:CHR_9606-chr16q2 biolink:NamedThing 16q2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 90338345 57300000 hg38 owl:Class MONDO:0011932 biolink:NamedThing hypotrichosis 6 Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene. tmpaxzxjjyw_mondo_relaxed.owl hypotrichosis, localized, autosomal recessive 1|monilethrix-like hypotrichosis|autosomal recessive localized hypotrichosis|hypotrichosis 6|Lah1|DSG4 hypotrichosis|hypotrichosis type 6|hypotrichosis caused by mutation in DSG4|hypotrichosis, localized, autosomal recessive|HYPT6|Htl UMLS:C1842839|DOID:0110703|OMIM:607903|MESH:C564312|Orphanet:55654 owl:Class MONDO:0014766 biolink:NamedThing leukodystrophy and acquired microcephaly with or without dystonia; tmpaxzxjjyw_mondo_relaxed.owl LDAMD|leukodystrophy and acquired microcephaly with or without dystonia UMLS:C4225213|OMIM:616763 owl:Class HGNC:29515 biolink:NamedThing PLEKHG2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009611 biolink:NamedThing response to wounding Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. tmpaxzxjjyw_mondo_relaxed.owl physiological response to wounding owl:Class CHEBI:78608 biolink:NamedThing alpha-amino acid zwitterion An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any alpha-amino acid; major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl an alpha-amino acid owl:Class OBO:CHR_9606-chr7q31 biolink:NamedThing 7q31 (Human) tmpaxzxjjyw_mondo_relaxed.owl 127500000 107800000 hg38 owl:Class GO:0003022 biolink:NamedThing detection of pH by chemoreceptor signaling The process in which information about the levels of hydrogen ions are received and are converted to a molecular signal by chemoreceptors. tmpaxzxjjyw_mondo_relaxed.owl detection of pH by chemoreceptor signalling owl:Class CHEBI:58072 biolink:NamedThing carbon monoxide(1+) Conjugate acid of carbon monoxide arising from protonation of the carbon; major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl methylidyneoxonium|methylidyneoxidanium|CO(1+) owl:Class GO:0002686 biolink:NamedThing negative regulation of leukocyte migration Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte migration. tmpaxzxjjyw_mondo_relaxed.owl downregulation of leukocyte migration|negative regulation of leucocyte migration|negative regulation of immune cell migration|inhibition of leukocyte migration|down regulation of leukocyte migration|down-regulation of leukocyte migration owl:Class UBERON:0001463 biolink:NamedThing manual digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013600 biolink:NamedThing insomnia A sleep disorder characterized by difficulty in falling asleep and/or remaining asleep. tmpaxzxjjyw_mondo_relaxed.owl delayed sleep phase syndrome, susceptibility to|DSPS|insomnia (disease)|insomnia|delayed sleep phase disorder, susceptibility to|DSPD insomnia (disease) NCIT:C28286|ICD10:G47.0|ICD9:780.52|UMLS:C0393770|HP:0100785|EFO:0004698|SCTID:193462001|MESH:D007319 owl:Class MONDO:0012615 biolink:NamedThing intellectual disability, autosomal recessive 7 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive type 7|autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3|intellectual disability, autosomal recessive 22|intellectual disability, autosomal recessive type 7|mental retardation, autosomal recessive 22|mental retardation, autosomal recessive 7|TUSC3 autosomal recessive non-syndromic intellectual disability|MRT7|intellectual disability, autosomal recessive 7 Orphanet:88616|UMLS:C1970197|OMIM:611093|MESH:C567016 owl:Class GO:0098797 biolink:NamedThing plasma membrane protein complex Any protein complex that is part of the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17110 biolink:NamedThing ADAMTS18 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013628 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 3 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene. tmpaxzxjjyw_mondo_relaxed.owl hyperphosphatasia with mental retardation syndrome 3|PGAP2 hyperphosphatasia-intellectual disability syndrome|mental retardation, autosomal recessive 21|hyperphosphatasia with mental retardation syndrome type 3|HPMRS3|mental retardation, autosomal recessive 17|intellectual disability, autosomal recessive 21|hyperphosphatasia with intellectual disability syndrome type 3|hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2|intellectual disability, autosomal recessive 17|glycosylphosphatidylinositol biosynthesis defect 8|hyperphosphatasia with intellectual disability syndrome 3 OMIM:614207|Orphanet:247262|UMLS:C3280153 owl:Class HGNC:17893 biolink:NamedThing PGAP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXq27.3-q28 biolink:NamedThing Xq27.3-q28 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class UBERON:0006321 biolink:NamedThing superior oblique extraocular muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001374 biolink:NamedThing bladder sarcoma A malignant mesenchymal cell neoplasm that affects the urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl bladder sarcoma|sarcoma of urinary bladder|urinary bladder sarcoma|sarcoma of the urinary bladder|sarcoma of the bladder|sarcoma of bladder UMLS:C0349666|DOID:11812|NCIT:C4669|SCTID:278046008 owl:Class GO:0061458 biolink:NamedThing reproductive system development The progression of the reproductive system over time from its formation to the mature structure. The reproductive system consists of the organs that function in reproduction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000314 biolink:NamedThing high osmolarity environment A high osmolarity environment is an environment in which entities are exposed to high concentrations of solutes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009638 biolink:NamedThing orbitosphenoid ossification center tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000771 biolink:NamedThing eosinophil Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive. tmpaxzxjjyw_mondo_relaxed.owl polymorphonuclear leukocyte|eosinocyte|eosinophilic leukocyte|eosinophilic leucocyte|polymorphonuclear leucocyte|eosinophilic granulocyte BTO:0000399|CALOHA:TS-0279|FMA:62861 Eosinophils are also CD14-negative, CD32-positive, CD44-positive, CD48-positive, CD69-positive, CD192-negative, MBP1-positive, MBP2-positive, TLR2-negative, TLR4-negative, and lineage-negative (B220, CD2, CD14, CD19, CD56, CD71, CD117, CD123, CD235a (glycophorin A), and TER119). The cytokines IL-3, IL-5, and GM-CSF are involved in their development and differentiation. Usually considered CD16-negative, CD16 is observed on eosinophilic metamyelocyte. cell owl:Class MONDO:0009220 biolink:NamedThing visceral steatosis, congenital tmpaxzxjjyw_mondo_relaxed.owl visceral steatosis, congenital|White liver disease|fatty metamorphosis of viscera|steatosis of liver|fatal neonatal hepatic steatosis|visceral steatosis|fatty liver disease, congenital ICD9:571.8|SCTID:270881008|OMIM:228100|GARD:0008514 owl:Class MONDO:0012644 biolink:NamedThing asphyxiating thoracic dystrophy 2 Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene. tmpaxzxjjyw_mondo_relaxed.owl IFT80 Jeune syndrome|asphyxiating thoracic dystrophy type 2|short-rib thoracic dysplasia 2 with or without polydactyly|Jeune syndrome caused by mutation in IFT80|ATD2|asphyxiating thoracic dystrophy 2|SRTD2 ICD10:Q77.2|DOID:0110086|UMLS:C1970005|MESH:C566982|OMIM:611263|Orphanet:474 owl:Class HGNC:29262 biolink:NamedThing IFT80 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8975 biolink:NamedThing PIK3CA tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000012 biolink:NamedThing somatic nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr11p15-p14 biolink:NamedThing 11p15-p14 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class NCBITaxon:38323 biolink:NamedThing Bartonella henselae tmpaxzxjjyw_mondo_relaxed.owl Rochalimaea henselae GC_ID:11|PMID:1371515|PMID:8240958 NCBITaxon:806 ncbi_taxonomy owl:Class UBERON:4000170 biolink:NamedThing median fin skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:4000162 biolink:NamedThing median fin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003893 biolink:NamedThing rete testis adenoma A benign epithelial neoplasm arising from the rete testis. tmpaxzxjjyw_mondo_relaxed.owl rete testis adenoma|adenoma, rete testis, benign NCIT:C39956|UMLS:C1514910|DOID:6483 owl:Class CHEBI:597326 biolink:NamedThing pyridoxal 5'-phosphate(2-) The dianion resulting from the removal of two protons from the phosphate group of pyridoxal 5'-phosphate. tmpaxzxjjyw_mondo_relaxed.owl 3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate dianion|3-hydroxy-5-(hydroxymethyl)-2-methylisonicotinaldehyde 5-phosphate(2-)|pyridoxal 5'-phosphate|(4-formyl-5-hydroxy-6-methylpyridin-3-yl)methyl phosphate|pyridoxal 5'-phosphate dianion owl:Class Na7225b62efcc475cb18f155d60a55b7f biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013500 biolink:NamedThing immunodeficiency 51 tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 51|candidiasis, familial, 5, formerly|IMD51|candidiasis, familial chronic mucocutaneous, autosomal recessive|CANDF5|candidiasis, familial, type 5|candidiasis, familial, 5 OMIM:613953|UMLS:C4310803|UMLS:C3151402 owl:Class UBERON:0034923 biolink:NamedThing disconnected anatomical group tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013487 biolink:NamedThing recurrent Neisseria infections due to factor D deficiency tmpaxzxjjyw_mondo_relaxed.owl CFDD|recurrent Neisseria infections due to factor D deficiency|complement factor D deficiency|factor D deficiency MESH:C565027|Orphanet:169467|UMLS:C0398764|ICD10:D84.1|OMIM:613912|SCTID:234607008|ICD9:279.8 owl:Class HGNC:2771 biolink:NamedThing CFD tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2188 biolink:NamedThing COL12A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011269 biolink:NamedThing psoriasis 2 Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene. tmpaxzxjjyw_mondo_relaxed.owl psoriasis type 2|psoriasis caused by mutation in CARD14|PSORS2|psoriasis 2|CARD14 psoriasis UMLS:C1864497|OMIM:602723|DOID:0080475 owl:Class HGNC:16446 biolink:NamedThing CARD14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003219 biolink:NamedThing gastroesophageal junction adenocarcinoma A carcinoma that arises from glandular epithelial cells of the esophagogastric junction. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma - GEJ|adenocarcinoma of the GE junction|adenocarcinoma of the EG junction|esophagogastric adenocarcinoma|adenocarcinoma of the gastroesophageal junction|adenocarcinoma of the esophagogastric junction|adenocarcinoma of gastroesophageal junction|esophagogastric junction adenocarcinoma|adenocarcinoma of cardioesophageal junction|gastroesophageal junction adenocarcinoma|adenocarcinoma of the cardioesophageal junction ONCOTREE:GEJ|DOID:4944|ONCOTREE:EGC|UMLS:C1332166|NCIT:C9296 owl:Class UBERON:0003691 biolink:NamedThing epidural space tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33247 biolink:NamedThing organic group Any substituent group or skeleton containing carbon. tmpaxzxjjyw_mondo_relaxed.owl organic groups owl:Class MONDO:0008523 biolink:NamedThing Blau syndrome Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease. tmpaxzxjjyw_mondo_relaxed.owl arthrocutaneouveal granulomatosis|EOS|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|pediatric granulomatous arthritis|ACUG|synovitis granulomatous with uveitis and cranial neuropathies|synovitis, granulomatous, with uveitis and cranial neuropathies|Jabs syndrome|early-onset sarcoidosis|Blau syndrome|BLAUS|granulomatosis, familial, Blau type|granulomatosis, familial juvenile systemic|sarcoidosis, early-onset UMLS:C1836122|Orphanet:90340|ICD9:714.89|OMIM:186580|SCTID:699861000|ICD9:692.9|NCIT:C116794|MESH:C538157|GARD:0000304|MedDRA:10071755|UMLS:C1861303|OMIM:609464|Orphanet:90341|DOID:0050678 https://rarediseases.info.nih.gov/diseases/304/blau-syndrome owl:Class HGNC:5331 biolink:NamedThing NOD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003983 biolink:NamedThing conus arteriosus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0017168 biolink:NamedThing 5-oxoprolinase (ATP-hydrolyzing) activity Catalysis of the reaction: 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. tmpaxzxjjyw_mondo_relaxed.owl pyroglutamase activity|5-oxoprolinase (ATP-hydrolysing)|pyroglutamase (ATP-hydrolysing)|pyroglutamase (ATP-hydrolyzing) activity|5-oxo-L-proline amidohydrolase (ATP-hydrolysing)|L-pyroglutamate hydrolase activity|5-oxoprolinase activity|oxoprolinase activity|pyroglutamate hydrolase activity|pyroglutamic hydrolase activity|5-OPase activity|5-oxo-L-prolinase activity owl:Class ENVO:01001001 biolink:NamedThing plant-associated environment An environmental system determined by a green plant. tmpaxzxjjyw_mondo_relaxed.owl Viridiplantae-associated environment|plant environment owl:Class GO:0019203 biolink:NamedThing carbohydrate phosphatase activity Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015315 biolink:NamedThing neonatal brainstem dysfunction Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199283|Orphanet:137929 owl:Class MONDO:0010142 biolink:NamedThing hypothyroidism due to TSH receptor mutations Hypothyroidism due to thyroid-stimulating hormone (TSH) receptor mutations is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. tmpaxzxjjyw_mondo_relaxed.owl hypothyroidism, congenital, due to TSH resistance|congenital nongoitrous hypothyroidism 1|thyroid-stimulating hormone, resistance to|hypothyroidism, congenital, nongoitrous, type 1|congenital nongoitrous hypothryoidism 1|thyrotropin resistance|hypothyroidism, congenital, nongoitrous, 1|hypothyroidism due to unresponsiveness to thyrotropin|CHNG1|hypothyroidism, Nonautoimmune|TSH resistance ICD10:E03.1|Orphanet:90673|OMIM:275200|UMLS:C3493776|DOID:0070126|UMLS:CN206435 owl:Class UBERON:0005281 biolink:NamedThing ventricular system of central nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012573 biolink:NamedThing vesicoureteral reflux 2 Any vesicoureteral reflux in which the cause of the disease is a mutation in the ROBO2 gene. tmpaxzxjjyw_mondo_relaxed.owl vesicoureteral reflux type 2|vesicoureteral reflux 2|VUR2|vesicoureteral reflux (disease) caused by mutation in ROBO2|ROBO2 vesicoureteral reflux (disease) OMIM:610878|Orphanet:289365|MESH:C567053|UMLS:C1970483 owl:Class HGNC:10250 biolink:NamedThing ROBO2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007265 biolink:NamedThing cardiofaciocutaneous syndrome 1 Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene. tmpaxzxjjyw_mondo_relaxed.owl CFC1|cardiofaciocutaneous syndrome caused by mutation in BRAF|CFC syndrome|BRAF cardiofaciocutaneous syndrome|cardiofaciocutaneous syndrome 1|Cfcs|cardiofaciocutaneous syndrome type 1 DOID:0111460|UMLS:C1275081|Orphanet:1340|OMIM:115150|UMLS:CN029449 owl:Class HGNC:1097 biolink:NamedThing BRAF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024550 biolink:NamedThing frontometaphyseal dysplasia 1 Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene. tmpaxzxjjyw_mondo_relaxed.owl FRONTOMETAPHYSEAL dysplasia 1|FLNA frontometaphyseal dysplasia|frontometaphyseal dysplasia caused by mutation in FLNA|Fmd|FMD1 OMIM:305620|Orphanet:1826|DOID:0111786 owl:Class CHEBI:33299 biolink:NamedThing alkaline earth molecular entity An alkaline earth molecular entity is a molecular entity containing one or more atoms of an alkaline earth metal. tmpaxzxjjyw_mondo_relaxed.owl alkaline earth molecular entity|alkaline-earth compounds|alkaline earth molecular entities|alkaline earth compounds owl:Class MONDO:0016839 biolink:NamedThing distal 17p13.3 microdeletion syndrome Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly. tmpaxzxjjyw_mondo_relaxed.owl distal monosomy 17p13.3|distal del(17)(p13.3) ICD10:Q93.5|SCTID:764696007|UMLS:CN202175|Orphanet:261257 owl:Class MONDO:0003174 biolink:NamedThing spinal cord astrocytoma A low or high grade astrocytoma that arises in the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl spinal astrocytoma|astrocytoma of spinal cord|spinal cord astrocytoma|spinal cord astrocytoma (excluding glioblastoma)|astrocytoma of the spinal cord|astrocytoma (excluding glioblastoma) of spinal cord SCTID:254948003|EFO:1000544|NCIT:C4641|DOID:4863|UMLS:C0349540 owl:Class HGNC:1839 biolink:NamedThing ADA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042088 biolink:NamedThing T-helper 1 type immune response An immune response which is associated with resistance to intracellular bacteria, fungi, and protozoa, and pathological conditions such as arthritis, and which is typically orchestrated by the production of particular cytokines by T-helper 1 cells, most notably interferon-gamma, IL-2, and lymphotoxin. tmpaxzxjjyw_mondo_relaxed.owl Th1 immune response owl:Class UBERON:0000949 biolink:NamedThing endocrine system tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050886 biolink:NamedThing endocrine process The process that involves the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. tmpaxzxjjyw_mondo_relaxed.owl endocrine physiological process|endocrine physiology owl:Class MONDO:0005299 biolink:NamedThing brain ischemia Diminished or absent blood supply to the brain caused by obstruction (thrombosis or embolism) of an artery resulting in neurologic damage. tmpaxzxjjyw_mondo_relaxed.owl brain ischemic disease|ischemia cerebrovascular|cerebrovascular ischemia|ischaemic encephalopathy|ischemic disease of brain|ischemic encephalopathy|brain ischemia SCTID:389100007|NCIT:C78394|UMLS:C0007786|ICD9:348.89|MESH:D002545|EFO:0003883|DOID:2316 owl:Class GO:0005750 biolink:NamedThing mitochondrial respiratory chain complex III A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. Contains about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial ubiquinol-cytochrome c oxidoreductase complex|mitochondrial complex III|mitochondrial cytochrome bc(1) complex|mitochondrial coenzyme Q-cytochrome c oxidoreductase complex|mitochondrial ubiquinol-cytochrome-c reductase complex|mitochondrial coenzyme Q-cytochrome c reductase complex|mitochondrial cytochrome bc1 complex|mitochondrial electron transport complex III owl:Class GO:0010984 biolink:NamedThing regulation of lipoprotein particle clearance Any process that modulates the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020295 biolink:NamedThing congenital pulmonary veins anomaly Aberrant drainage of one or more of the pulmonary veins which causes the return of oxygen-rich blood to the right atrium. tmpaxzxjjyw_mondo_relaxed.owl congenital anomaly of pulmonary veins|pulmonary vein abnormality SCTID:111322000|NCIT:C110942|Orphanet:98729 owl:Class GO:0005977 biolink:NamedThing glycogen metabolic process The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. tmpaxzxjjyw_mondo_relaxed.owl glycogen metabolism owl:Class HGNC:17964 biolink:NamedThing RDH11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010778 biolink:NamedThing cyclic vomiting syndrome A rare abnormality of the neuroendocrine system that is characterized by episodic nausea and vomiting. tmpaxzxjjyw_mondo_relaxed.owl CVS|cyclic vomiting syndrome|cyclic vomiting syndrome with neuromuscular disease|cyclic vomiting syndrome-plus|Cvs-plus GARD:0006230|OMIM:500007 owl:Class HP:0002017 biolink:NamedThing Nausea and vomiting Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. tmpaxzxjjyw_mondo_relaxed.owl Nausea and vomiting UMLS:C0027498|SNOMEDCT_US:16932000 human_phenotype owl:Class UBERON:0007125 biolink:NamedThing pharyngeal pouch 4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014118 biolink:NamedThing congenital neutropenia-myelofibrosis-nephromegaly syndrome tmpaxzxjjyw_mondo_relaxed.owl congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome|SCN5|neutropenia, severe congenital, 5, autosomal recessive|vps45 deficiency Orphanet:369852|ICD10:D70|OMIM:615285|UMLS:C3809031 owl:Class HGNC:14579 biolink:NamedThing VPS45 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11075 biolink:NamedThing SLC9A3R1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013669 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 4 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the RAD51D gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary breast ovarian cancer syndrome caused by mutation in RAD51D|RAD51D hereditary breast ovarian cancer syndrome|susceptibility to familial breast-ovarian cancer 4|breast-ovarian cancer, familial, susceptibility to, 4|breast-ovarian cancer, familial, susceptibility to, type 4|BROVCA4 OMIM:614291|Orphanet:145 owl:Class HGNC:9823 biolink:NamedThing RAD51D tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:74783 biolink:NamedThing astringent A compound that causes the contraction of body tissues, typically used to reduce bleeding from minor abrasions. tmpaxzxjjyw_mondo_relaxed.owl adstringent|adstringents|astringents owl:Class UBERON:0035523 biolink:NamedThing anterior surface of prostate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021673 biolink:NamedThing post-bacterial disorder tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009168 biolink:NamedThing Fowler syndrome tmpaxzxjjyw_mondo_relaxed.owl Fowler syndrome|hydrocephaly/hydranencephaly due to cerebral vasculopathy|proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome|Encephaloclastic proliferative vasculopathy|cerebral proliferative glomeruloid vasculopathy|PVHH|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type MESH:C565593|MedDRA:10071718|SCTID:700242002|OMIM:225790|DOID:0111666|Orphanet:221126|ICD9:596.59 owl:Class HGNC:20105 biolink:NamedThing FLVCR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005979 biolink:NamedThing crista terminalis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014599 biolink:NamedThing intellectual disability, autosomal dominant 34 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal dominant 34|mental retardation, autosomal dominant type 34|COL4A3BP autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 34|MRD34|intellectual disability, autosomal dominant type 34|autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP|intellectual disability, autosomal dominant 34|autosomal dominant non-syndromic intellectual disability 34|autosomal dominant mental retardation 34 DOID:0070064|OMIM:616351 owl:Class HGNC:2205 biolink:NamedThing CERT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014212 biolink:NamedThing sulfite oxidase deficiency due to molybdenum cofactor deficiency type C A molybdenum cofactor deficiency that has material basis in homozygous mutation in the GPHN gene on chromosome 14q23. tmpaxzxjjyw_mondo_relaxed.owl molybdenum cofactor deficiency, complementation group C|MOCOD type C|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C|molybdenum cofactor deficiency complementation group C|molybdenum cofactor deficiency type C|molybdenum cofactor deficiency, complementation group type C|MOCODC PMID:11095995|DOID:0111166|UMLS:C1854990|Orphanet:833|Orphanet:308400|MESH:C565374|ICD10:E72.1|Orphanet:99732|OMIM:615501 owl:Class HGNC:15465 biolink:NamedThing GPHN tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:10372 biolink:NamedThing Human betaherpesvirus 7 tmpaxzxjjyw_mondo_relaxed.owl Herpes simplex virus 7|Human herpesvirus type 7|HHV-7|human herpesvirus 7 HHV-7|Human herpesvirus 7 GC_ID:1 NCBITaxon:57277 ncbi_taxonomy owl:Class MONDO:0018145 biolink:NamedThing congenital retinal arteriovenous communication tmpaxzxjjyw_mondo_relaxed.owl congenital arteriovenous anastomoses of the retina|congenital arteriovenous communication of the retina|congenital retinal arteriovenous anastomoses Orphanet:353334|ICD10:Q14.8 owl:Class MONDO:0029144 biolink:NamedThing extraoral halitosis due to methanethiol oxidase deficiency tmpaxzxjjyw_mondo_relaxed.owl extraoral halitosis with dimethylsulfoxiduria|MTO Deficiency|EHMTO|METHANETHIOL Oxidase Deficiency|EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY OMIM:618148 owl:Class GO:0018549 biolink:NamedThing methanethiol oxidase activity Catalysis of the reaction: methanethiol + O2 + H2O = formaldehyde + hydrogen sulfide + hydrogen peroxide. tmpaxzxjjyw_mondo_relaxed.owl methanethiol:oxygen oxidoreductase activity|MT-oxidase activity|(MM)-oxidase activity|methylmercaptan oxidase activity|methyl mercaptan oxidase activity owl:Class MONDO:0004657 biolink:NamedThing disseminated chorioretinitis tmpaxzxjjyw_mondo_relaxed.owl DOID:8787|SCTID:78769001|UMLS:C0154879|ICD9:363.10|ICD10:H30.10|ICD9:363.1|ICD10:H30.1 owl:Class MONDO:0009070 biolink:NamedThing D-glyceric aciduria A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21. tmpaxzxjjyw_mondo_relaxed.owl D-glyceric acidemia|D-glycericacidemia|D-glycerate kinase deficiency|d-glyceric aciduria|non ketotic hyperglycinemia syndrome|glycerate kinase deficiency OMIM:220120|NCIT:C128804|GARD:0000234|SCTID:237980004|DOID:0111626|UMLS:C0342765|MESH:C535767|ICD10:E74.8|UMLS:C1291386|Orphanet:941 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:24247 biolink:NamedThing GLYCTK tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:03000033 biolink:NamedThing marine sediment Sediment which has been transported through the marine water column, settling on the seafloor. tmpaxzxjjyw_mondo_relaxed.owl marine sediments owl:Class UBERON:0001102 biolink:NamedThing cartilage of main bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008585 biolink:NamedThing female gonad development The process whose specific outcome is the progression of the female gonad over time, from its formation to the mature structure. tmpaxzxjjyw_mondo_relaxed.owl ovarian development|ovary development owl:Class UBERON:0018413 biolink:NamedThing facial nerve canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000894 biolink:NamedThing DN1 thymic pro-T cell A pro-T cell that has the phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative. tmpaxzxjjyw_mondo_relaxed.owl DN1 thymic pro-T-cell|DN1 thymic progenitor T cell|DN1 thymocyte|preT.DN1.Th|double negative 1|DN1 thymic pro-T-lymphocyte|DN1 thymic pro-T lymphocyte cell owl:Class MONDO:0015013 biolink:NamedThing retinitis pigmentosa 77 Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 77|REEP6 retinitis pigmentosa|retinitis pigmentosa 77|RP77|retinitis pigmentosa caused by mutation in REEP6 UMLS:C4310626|DOID:0080350|ICD10CM:H35.5|OMIM:617304 owl:Class UBERON:0007645 biolink:NamedThing future meninx tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6000 biolink:NamedThing IL1RN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005850 biolink:NamedThing milker's nodule Virus diseases caused by the poxviridae. tmpaxzxjjyw_mondo_relaxed.owl milker nodule|Pseudocowpox|milkers' node|Paravaccinia DOID:8729|ICD10:B08.04|MESH:D011213|ICD9:051.9|SCTID:27240009|EFO:0007370|UMLS:C0026143|ICD9:051.1 owl:Class MONDO:0007700 biolink:NamedThing hawkinsinuria Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine. tmpaxzxjjyw_mondo_relaxed.owl 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency|hawkinsinuria|4-hydroxyphenylpyruvic acid dioxygenase deficiency|4-HPPD deficiency OMIM:140350|ICD10:E70.2|DOID:0111362|MESH:C535845|SCTID:414380008|Orphanet:2118|UMLS:C2931042|GARD:0005668 https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria owl:Class MONDO:0014549 biolink:NamedThing lethal congenital contracture syndrome 6 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene. tmpaxzxjjyw_mondo_relaxed.owl lethal congenital contracture syndrome caused by mutation in ZBTB42|lethal congenital contracture syndrome type 6|LCCS6|ZBTB42 lethal congenital contracture syndrome|lethal congenital contracture syndrome 6 UMLS:C4015686|OMIM:616248 owl:Class HGNC:3811 biolink:NamedThing FOXG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013660 biolink:NamedThing arthrogryposis, Perthes disease, and upward gaze palsy tmpaxzxjjyw_mondo_relaxed.owl APUG|arthrogryposis, Perthes disease, and upward gaze palsy OMIM:614262|UMLS:C3280309 owl:Class GO:2000836 biolink:NamedThing positive regulation of androgen secretion Any process that activates or increases the frequency, rate or extent of androgen secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021849 biolink:NamedThing alopecia macular degeneration growth retardation syndrome tmpaxzxjjyw_mondo_relaxed.owl alopecia macular degeneration growth retardation|alopecia, macular degeneration, and growth retardation GARD:0000610|MESH:C538125 Editor note: check relationshop to EEM https://rarediseases.info.nih.gov/diseases/610/alopecia-macular-degeneration-growth-retardation owl:Class MONDO:0013917 biolink:NamedThing nephronophthisis 15 Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene. tmpaxzxjjyw_mondo_relaxed.owl CEP164 nephronophthisis (disease)|nephronophthisis type 15|nephronophthisis (disease) caused by mutation in CEP164|NPHP15|nephronophthisis 15 Orphanet:3156|DOID:0111123|OMIM:614845|UMLS:C3541853 owl:Class HGNC:29182 biolink:NamedThing CEP164 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100267 biolink:NamedThing peroxisome biogenesis disorder due to PEX13 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX13 gene. tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX13 defect|PEX13 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:8855 biolink:NamedThing PEX13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905904 biolink:NamedThing positive regulation of mesoderm formation Any process that activates or increases the frequency, rate or extent of mesoderm formation. tmpaxzxjjyw_mondo_relaxed.owl activation of mesoderm formation|upregulation of mesoderm formation|up-regulation of mesoderm formation|up regulation of mesoderm formation owl:Class MONDO:0010402 biolink:NamedThing syndromic X-linked intellectual disability 94 A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25. tmpaxzxjjyw_mondo_relaxed.owl syndromic X-linked intellectual disability due to GRIA3 anomalies|syndromic X-linked intellectual disability type 94|syndromic X-linked intellectual disability Wu type|mental retardation, X-linked, syndromic, Wu type|MRXSW|mental retardation, X-linked, syndromic 29|syndromic X-linked mental retardation Wu type|syndromic X-linked intellectual disability 29|intellectual disability, X-linked 94|MRX94|intellectual disability, X-linked, syndromic, Wu type|syndromic X-linked mental retardation 29|syndromic X-linked intellectual disability 94|mental retardation, X-linked 94|intellectual disability, X-linked, syndromic 29|MRXS29 UMLS:C2678051|Orphanet:364028|MESH:C567479|DOID:0060823|OMIM:300699|ICD10:F72 owl:Class HGNC:4573 biolink:NamedThing GRIA3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018648 biolink:NamedThing Keratocystic odontogenic tumor An intraosseous odontogenic neoplasm that usually arises from the mandible. It is characterized by the presence of a single or multiple cysts lined with parakeratinized stratified squamous epithelium. The neoplastic lesions may be solitary or multiple. It has the potential for aggressive behavior, local destruction, and recurrence. tmpaxzxjjyw_mondo_relaxed.owl odontogenic Keratocyst|KTOC|odontogenic keratocystoma UMLS:C1708604|SCTID:713277006|Orphanet:447777|NCIT:C54302|ICD10:D16.4|UMLS:CN237705 owl:Class UBERON:0010125 biolink:NamedThing future superior salivatory nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002149 biolink:NamedThing superior salivatory nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035545 biolink:NamedThing deep lymphatic vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035551 biolink:NamedThing deep vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015409 biolink:NamedThing isolated congenital syngnathia Isolated congenital syngnathia is a very rare developmental defect during embryogenesis characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thive, malnutrition and/or temporomandibular joint ankylosis. tmpaxzxjjyw_mondo_relaxed.owl isolated congenital maxillomandibular fusion SCTID:763317002|ICD10:Q67.4|Orphanet:141214 owl:Class MONDO:0001471 biolink:NamedThing histoplasmosis meningitis An infectious meningitis caused by infection with Histoplasma capsulatum. tmpaxzxjjyw_mondo_relaxed.owl histoplasmosis with meningitis|Histoplasma capsulatum caused infectious meningitis|Histoplasma capsulatum infectious meningitis DOID:12246|ICD9:115.91 owl:Class UBERON:0002871 biolink:NamedThing hypoglossal nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013749 biolink:NamedThing ventricular septal defect 3 Any ventricular septal defect in which the cause of the disease is a mutation in the NKX2-5 gene. tmpaxzxjjyw_mondo_relaxed.owl ventricular septal defect type 3|ventricular septal defect 3|NKX2-5 ventricular septal defect (disease)|ventricular septal defect (disease) caused by mutation in NKX2-5|VSD3 OMIM:614432|UMLS:C3280785 owl:Class MONDO:0020715 biolink:NamedThing multiple system atrophy 1, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl MSA1|multiple system atrophy 1, susceptibility to|MSA1, susceptibility to OMIM:146500 owl:Class HGNC:25223 biolink:NamedThing COQ2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005988 biolink:NamedThing toxocariasis A parasitic infection caused by worms found in domestic animals. In humans nematode larvae enter the portal system from the small intestine and disseminate in visceral organs causing inflammatory reactions. Signs and symptoms include eosinophilia, hepatomegaly, splenomegaly, and lung infections. tmpaxzxjjyw_mondo_relaxed.owl Toxocara infection|Toxocara infectious disease|Toxocara caused disease or disorder|visceral larva migrans|Toxocara disease or disorder|infection by Toxascaris UMLS:C0040553|MESH:D007816|Orphanet:3343|SCTID:406619001|GARD:0007788|ICD10:B83.0|ICD9:128.0|DOID:9790|EFO:0007516|MESH:D014120|NCIT:C34758|MedDRA:10044269 owl:Class NCBITaxon:6264 biolink:NamedThing Toxocara tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0035819 biolink:NamedThing abdominopelvic cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007566 biolink:NamedThing embryo implantation Attachment of the blastocyst to the uterine lining. tmpaxzxjjyw_mondo_relaxed.owl blastocyst implantation owl:Class MONDO:0021481 biolink:NamedThing benign neoplasm of submandibular gland A benign neoplasm that involves the submandibular gland. tmpaxzxjjyw_mondo_relaxed.owl submandibular gland benign neoplasm|benign submandibular gland tumor|benign tumor of the submandibular gland|benign submandibular gland neoplasm|benign neoplasm of the submandibular gland|benign tumor of submandibular gland UMLS:C0685988|NCIT:C4891|SCTID:92415001 owl:Class MONDO:0006358 biolink:NamedThing parotid gland squamous cell carcinoma An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain. tmpaxzxjjyw_mondo_relaxed.owl parotid gland squamous cell carcinoma|squamous cell carcinoma of parotid gland|squamous cell carcinoma of parotid|squamous cell carcinoma of the parotid gland|parotid squamous cell carcinoma|squamous cell carcinoma of the parotid EFO:1000463|NCIT:C5942|UMLS:C1335367 owl:Class MONDO:0012186 biolink:NamedThing Fanconi anemia complementation group I Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein. tmpaxzxjjyw_mondo_relaxed.owl Fanconi anemia, complementation group I|Fanconi Anemia, complementation Group 1|FANCI|Fanconi Anemia, complementation group type 1|Fanconi anemia complementation group type I|Fanconi anemia complementation group I MESH:C563802|NCIT:C129026|DOID:0111091|OMIM:609053|UMLS:C1836861 owl:Class MONDO:0013558 biolink:NamedThing Hermansky-Pudlak syndrome 6 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene. tmpaxzxjjyw_mondo_relaxed.owl HPS6|Hermansky-Pudlak syndrome 6|Hermansky-Pudlak syndrome type 6|Hermansky-Pudlak syndrome caused by mutation in HPS6|HPS6 Hermansky-Pudlak syndrome Orphanet:231512|NCIT:C150369|UMLS:C3888007|DOID:0060544|OMIM:614075|Orphanet:79430 owl:Class HGNC:18817 biolink:NamedThing HPS6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012504 biolink:NamedThing camptodactyly-tall stature-scoliosis-hearing loss syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. tmpaxzxjjyw_mondo_relaxed.owl camptodactyly, tall stature, and hearing loss syndrome|CATSHL syndrome|CATSHLS ICD10:Q87.2|GARD:0010012|DOID:0111160|UMLS:C1864852|Orphanet:85164|MESH:C537975|OMIM:610474 owl:Class UBERON:0005058 biolink:NamedThing hemolymphoid system gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002112 biolink:NamedThing smooth muscle of esophagus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1515 biolink:NamedThing CAST tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001508 biolink:NamedThing arch of aorta tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:186536 biolink:NamedThing Ebolavirus tmpaxzxjjyw_mondo_relaxed.owl Ebola-like viruses GC_ID:1 ncbi_taxonomy owl:Class UBERON:0012353 biolink:NamedThing fin skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010581 biolink:NamedThing diabetes insipidus, nephrogenic, X-linked tmpaxzxjjyw_mondo_relaxed.owl Ndi|diabetes insipidus, nephrogenic, type 1|diabetes insipidus, nephrogenic, X-linked OMIM:304800|Orphanet:223|UMLS:C1563705 owl:Class HGNC:897 biolink:NamedThing AVPR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013380 biolink:NamedThing LEOPARD syndrome 3 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene. tmpaxzxjjyw_mondo_relaxed.owl LEOPARD syndrome 3|BRAF Noonan syndrome with multiple lentigines|Noonan syndrome with multiple lentigines caused by mutation in BRAF|Leopard syndrome type 3|leopard syndrome 3|LPRD3 Orphanet:500|DOID:0080550|OMIM:613707|UMLS:C3150971 owl:Class HGNC:3861 biolink:NamedThing FRA16E tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022293 biolink:NamedThing vascular disorder of penis A non-neoplastic or neoplastic disorder that affects the blood vessels of the penis. Representative examples include atherosclerosis, venous leak, and hemangioma. tmpaxzxjjyw_mondo_relaxed.owl penile vascular disorder|Penis vascular disorder|Penile vascular disorder|Vascular disorder of penis|Penile Vascular Disorder UMLS:C0156307|SCTID:198029003|ICD9:607.82|MEDGEN:102349|NCIT:C35218 owl:Class UBERON:0036269 biolink:NamedThing penis blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008607 biolink:NamedThing phosphorylase kinase regulator activity Modulation of the activity of the enzyme phosphorylase kinase. tmpaxzxjjyw_mondo_relaxed.owl phosphorylase kinase, intrinsic regulator activity owl:Class GO:0004689 biolink:NamedThing phosphorylase kinase activity Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a. tmpaxzxjjyw_mondo_relaxed.owl phosphorylase kinase, intrinsic catalyst activity|STK17|phosphorylase B kinase activity|PHK|dephosphophosphorylase kinase activity|ATP:phosphorylase-b phosphotransferase activity|phosphorylase kinase (phosphorylating) activity|glycogen phosphorylase kinase activity owl:Class MONDO:0001399 biolink:NamedThing ureter leiomyoma A benign smooth muscle neoplasm arising from the ureter. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of the ureter|ureteral leiomyoma|leiomyoma of ureter|ureter leiomyoma NCIT:C6161|DOID:11887|UMLS:C1336875 owl:Class HGNC:28883 biolink:NamedThing PPA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003826 biolink:NamedThing mediastinum seminoma An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors. tmpaxzxjjyw_mondo_relaxed.owl seminoma of the mediastinum|seminoma of mediastinum|mediastinum seminoma|mediastinal seminoma DOID:6249|NCIT:C6812|UMLS:C1334680 owl:Class MONDO:0007738 biolink:NamedThing spondyloepiphyseal dysplasia with congenital joint dislocations CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal. tmpaxzxjjyw_mondo_relaxed.owl chondrodysplasia with congenital joint dislocations, CHST3 type|Gollop Coates syndrome|Humerospinal dysostosis|spondyloepiphyseal dysplasia, Omani type|Kozlowski Celermajer tink syndrome|chondrodysplasia with multiple dislocations|SEDCJD|SDCD, CHST3 type|spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type|CHST3-related skeletal dysplasia|humero-spinal dysostosis with congenital heart disease|Omani type|spondyloepiphyseal dysplasia|spondyloepiphyseal dysplasia with congenital joint dislocations|spondyloepiphyseal dysplasia with congenital JOINT dislocations|bifurcation of distal humerus with oligoectro-syndactyly Orphanet:263463|GARD:0002533|DOID:0050813|OMIM:143095|ICD9:756.9|SCTID:702400006|MESH:C537283|ICD10:Q74.8 https://rarediseases.info.nih.gov/diseases/2533/gollop-coates-syndrome owl:Class HGNC:1971 biolink:NamedThing CHST3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018616 biolink:NamedThing central serous chorioretinopathy Central serous chorioretinopathy is a disease that causes fluid to build up under the retina, the back part of the inner eye that sends sight information to the brain. The fluid leaks from thechoroid (theblood vessel layer under the retina). The cause of this condition is unknown but stress can be a risk factor. Signs and symptoms include dim and blurred blind spot in the center of vision, distortion of straight linesand seeingobjectsas smaller or farther away. Many cases of central serous chorioretinopathy improve without treatment after 1-2 months. Laser treatment may be an option for other individuals. tmpaxzxjjyw_mondo_relaxed.owl CSCR|central serous chorioretinopathy after bone marrow transplantation|central serous retinopathy|central serous choroidopathy|CSC Orphanet:443079|GARD:0000200|ICD9:362.41|UMLS:C0730328|SCTID:312956001|ICD10:H35.7|NCIT:C115124|MESH:D056833 https://rarediseases.info.nih.gov/diseases/200/central-serous-chorioretinopathy owl:Class UBERON:0013067 biolink:NamedThing colorectal mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009377 biolink:NamedThing hyperammonemia due to N-acetylglutamate synthase deficiency N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia. tmpaxzxjjyw_mondo_relaxed.owl N-acetylglutamate synthetase deficiency|Nags deficiency|NAGSD|N-acetyl glutamate synthetase deficiency|hyperammonemia due to N-acetylglutamate synthetase deficiency|NAG synthetase deficiency|NAGS deficiency|hyperammonemia due to N-acetylglutamate synthase deficiency|N-acetylglutamate synthase deficiency ICD10:E72.2|OMIM:237310|Orphanet:927|NCIT:C129307|SCTID:57119000|GARD:0007158|MESH:C536109 owl:Class HGNC:17996 biolink:NamedThing NAGS tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009615 biolink:NamedThing midbrain hindbrain boundary neural plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016405 biolink:NamedThing pulmonary capillary tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024455 biolink:NamedThing autosomal dominant Robinow syndrome 1 Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene. tmpaxzxjjyw_mondo_relaxed.owl WNT5A autosomal dominant Robinow syndrome|acral dysostosis with Facial and genital abnormalities|autosomal dominant Robinow syndrome caused by mutation in WNT5A|Robinow syndrome, autosomal dominant 1|Robinow dwarfism|fetal face syndrome|dysostosis acral with facial and genital abnormalities|DRS1 Orphanet:97360|GARD:0002013|UMLS:C0265205|Orphanet:3107|OMIM:180700|DOID:0060766 https://rarediseases.info.nih.gov/diseases/2013/dysostosis-acral-with-facial-and-genital-abnormalities owl:Class UBERON:0004910 biolink:NamedThing epithelium of male gonad tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000443 biolink:NamedThing left testicular vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013063 biolink:NamedThing ventricular fibrillation, paroxysmal familial, 2 Any ventricular fibrillation in which the cause of the disease is a mutation in the DPP6 gene. tmpaxzxjjyw_mondo_relaxed.owl ventricular fibrillation, paroxysmal familial, 2|VF2|DPP6 ventricular fibrillation (disease)|ventricular fibrillation (disease) caused by mutation in DPP6|ventricular fibrillation, paroxysmal familial, type 2 MESH:C567841|Orphanet:228140|OMIM:612956|UMLS:C2751829 owl:Class HGNC:3010 biolink:NamedThing DPP6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14857 biolink:NamedThing COG5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004545 biolink:NamedThing adult malignant schwannoma A malignant peripheral nerve sheath tumor occurring during adulthood. tmpaxzxjjyw_mondo_relaxed.owl adult malignant neurilemmoma|adult malignant neoplasm of peripheral nerve sheath|malignant peripheral nerve sheath tumor|adult malignant peripheral nerve sheath tumor|adult MPNST|adult malignant peripheral nerve sheath neoplasm|adult malignant tumor of the peripheral nerve sheath|adult malignant neoplasm of the peripheral nerve sheath|adult malignant tumor of peripheral nerve sheath|adult malignant schwannoma DOID:8369|UMLS:C0278622|NCIT:C7814 owl:Class MONDO:0016835 biolink:NamedThing 14q11.2 microduplication syndrome 14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate. tmpaxzxjjyw_mondo_relaxed.owl dup(14)(q11.2)|trisomy 14q11.2 UMLS:CN202171|ICD10:Q92.3|Orphanet:261229 owl:Class MONDO:0006405 biolink:NamedThing salivary gland small cell carcinoma An infrequent small cell carcinoma that arises from the salivary glands and is characterized by the presence of a high number of mitotic figures. tmpaxzxjjyw_mondo_relaxed.owl saliva-secreting gland small cell carcinoma|anaplastic small cell carcinoma of the salivary gland|small cell carcinoma of saliva-secreting gland|neuroendocrine carcinoma of the salivary gland|neuroendocrine carcinoma of salivary gland|salivary gland neuroendocrine carcinoma|salivary gland anaplastic small cell carcinoma|anaplastic small cell carcinoma of salivary gland|salivary gland small cell carcinoma|small cell salivary gland carcinoma UMLS:C1335982|EFO:1000519|NCIT:C35703 owl:Class CL:0002292 biolink:NamedThing type I cell of carotid body A round or oval neuroepithelial cell that contacts other type I cells or capillaries. They occur in clusters that are surrounded by sheath cells (type-II cells) in the carotid body. This cell type is capable of secreting a number of neurotransmitters. tmpaxzxjjyw_mondo_relaxed.owl glomus cell FMA:84186 tmeehan 2010-09-13T01:40:21Z cell owl:Class OBO:CHR_9606-chr13q12.3 biolink:NamedThing 13q12.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 31600000 28300000 hg38 owl:Class MONDO:0013403 biolink:NamedThing heterotaxy, visceral, 4, autosomal Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene. tmpaxzxjjyw_mondo_relaxed.owl heterotaxy, visceral, 4, autosomal|HTX4|ACVR2B visceral heterotaxy|visceral heterotaxy caused by mutation in ACVR2B OMIM:613751|Orphanet:450|UMLS:C3151057 owl:Class HGNC:174 biolink:NamedThing ACVR2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003528 biolink:NamedThing Volkmann contracture An ischemic contracture of the forearm that most often occurs secondary to trauma. tmpaxzxjjyw_mondo_relaxed.owl Volkmann's ischemic contracture SCTID:111247001|DOID:5587|ICD10:T79.6|NCIT:C35130|MESH:D054061|UMLS:C0042951|ICD9:958.6 owl:Class HP:0030016 biolink:NamedThing Dyspareunia Recurrent or persistent genital pain associated with sexual intercourse. tmpaxzxjjyw_mondo_relaxed.owl MSH:D004414|UMLS:C1384606|SNOMEDCT_US:71315007 Dyspareunia can develop secondary to medical problems such as vestibulitis, vaginal atrophy, or vaginal infection. It can be either physiologically or psychologically based, or a combination of the two. human_phenotype owl:Class ENVO:09000008 biolink:NamedThing concentration of carbon atom in soil The concentration of a carbon atom when measured in soil. tmpaxzxjjyw_mondo_relaxed.owl soil carbon atom concentration owl:Class N6c8167ebc411402da4e60efbc54755d8 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0001323 biolink:NamedThing tibial nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008270 biolink:NamedThing polydactyly of a triphalangeal thumb Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. tmpaxzxjjyw_mondo_relaxed.owl triphalangeal thumb|triphalangeal thumb-polydactyly syndrome|polydactyly of triphalangeal thumb|PPD2|preaxial polydactyly type 2|triphalangeal thumb with polysyndactyly|triphalangeal thumb-polysyndactyly syndrome|polydactyly, preaxial II|TPT-PS syndrome|polydactyly, preaxial 2|polydactyly, preaxial type 2 OMIM:174500|GARD:0005289|SCTID:715710001|UMLS:C1868114|Orphanet:93336|ICD10:Q69.1|Orphanet:2950 owl:Class MONDO:0010966 biolink:NamedThing achondrogenesis type IB Achondrogenesis type 1B (ACG1B), a form of achondrogenesis, is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage. tmpaxzxjjyw_mondo_relaxed.owl achondrogenesis type IB|achondrogenesis, Parenti-Fraccaro type|achondrogenesis, type 1B|Fraccaro achondrogenesis|ACG1B|achondrogenesis, type IB|achondrogenesis, Fraccaro type|achondrogenesis type 1B|achondrogenesis Fraccaro type Orphanet:932|Orphanet:93298|DOID:0080055|GARD:0000460|ICD10:Q77.0|OMIM:600972 owl:Class HGNC:2519 biolink:NamedThing CTPS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013416 biolink:NamedThing age related macular degeneration 8 Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene. tmpaxzxjjyw_mondo_relaxed.owl macular degeneration, age-related, 8|age related macular degeneration type 8|macular Degeneration, age-related, type 8|age-related macular degeneration caused by mutation in ARMS2|ARMS2 age-related macular degeneration|ARMD8 DOID:0110020|UMLS:C3151070|OMIM:613778 owl:Class MONDO:0012517 biolink:NamedThing atypical Gaucher disease due to saposin C deficiency Any Gaucher disease in which the cause of the disease is a mutation in the PSAP gene. tmpaxzxjjyw_mondo_relaxed.owl Gaucher disease, atypical|PSAP Gaucher disease|atypical Gaucher disease due to saposin C deficiency|Gaucher disease caused by mutation in PSAP|atypical Gaucher's disease due to saposin c deficiency|Gaucher disease, atypical, due to saposin C deficiency ICD10:E75.2|UMLS:C1864651|Orphanet:355|OMIM:610539|Orphanet:309252|MESH:C566435|GARD:0012503|DOID:0110961 owl:Class MONDO:0001119 biolink:NamedThing premature menopause Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive. tmpaxzxjjyw_mondo_relaxed.owl menopause praecox|premature menopause|menopause - premature|early menopause|premature ovarian failure|POF UMLS:C0025322|SCTID:237788002|NCIT:C80099|MESH:D008594|DOID:10787|ICD10:E28.31|ICD9:256.31|ICD10:E28.319|ICD9:256.39 owl:Class MONDO:0020983 biolink:NamedThing myocardial rupture Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION). tmpaxzxjjyw_mondo_relaxed.owl Myocardial Rupture|Free Wall Rupture, Heart|Cardiac Free Wall Rupture|Ventricular Free Wall Rupture|Cardiac Rupture|Rupture of heart|Heart Ruptures|Cardiac Ruptures|Heart Rupture GARD:0010468|MESH:D006341|UMLS:C0018813 owl:Class UBERON:0012125 biolink:NamedThing dermatological-muscosal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013581 biolink:NamedThing intellectual disability, autosomal dominant 2 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8|DOCK8 autosomal dominant non-syndromic intellectual disability|MRD2|autosomal dominant non-syndromic intellectual disability 2|autosomal dominant mental retardation 2|autosomal dominant intellectual disability 2|intellectual disability, autosomal dominant type 2|intellectual disability, autosomal dominant 2|mental retardation, autosomal dominant 2|mental retardation, autosomal dominant type 2 UMLS:C3279842|DOID:0070032|OMIM:614113 owl:Class MONDO:0017577 biolink:NamedThing spontaneous periodic hypothermia Spontaneous periodic hypothermia (SPH) is a neurological disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions. tmpaxzxjjyw_mondo_relaxed.owl spontaneous recurrent hypothermia syndrome|episodic spontaneous hypothermia|spontaneous periodic hypothermia syndrome|Shapiro syndrome|Shapiro's syndrome|recurrent spontaneous hypothermia with hypoplasia of the corpus callosum GARD:0004815|ICD10:G90.8|Orphanet:29822|UMLS:C2931542|MESH:C537594 owl:Class ENVO:09000019 biolink:NamedThing concentration of chloride in water The concentration of a chloride when measured in water. tmpaxzxjjyw_mondo_relaxed.owl water chloride concentration owl:Class N9ba72470bd3b4f408b400b623b34304b biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0035465 biolink:NamedThing endometrial cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013002 biolink:NamedThing cone-rod dystrophy 9 Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene. tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy type 9|cone-rod dystrophy 9|ADAM9 cone-rod dystrophy|CORD9|cone-rod dystrophy caused by mutation in ADAM9 DOID:0111020|UMLS:C1423873|OMIM:612775 owl:Class HGNC:216 biolink:NamedThing ADAM9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009882 biolink:NamedThing anal column tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016527 biolink:NamedThing glycogen storage disease due to lactate dehydrogenase deficiency tmpaxzxjjyw_mondo_relaxed.owl LDH deficiency|glycogenosis due to lactate dehydrogenase deficiency|GSD due to lactate dehydrogenase deficiency|lactate dehydrogenase deficiency OMIM:612933|Orphanet:2364|MESH:C580233|OMIM:614128|ICD10:E74.4|GARD:0003159 owl:Class GO:0004457 biolink:NamedThing lactate dehydrogenase activity Catalysis of the reaction: lactate + NAD+ = H+ + NADH + pyruvate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14938 biolink:NamedThing PIGT tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015068 biolink:NamedThing glycine amidinotransferase activity Catalysis of the reaction: L-arginine + glycine = L-ornithine + guanidinoacetate. tmpaxzxjjyw_mondo_relaxed.owl L-arginine:glycine amidinotransferase activity|arginine-glycine amidinotransferase activity|glycine transamidinase activity|arginine-glycine transamidinase activity owl:Class UBERON:0003405 biolink:NamedThing lobar bronchus of left lung tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008951 biolink:NamedThing left lung lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005195 biolink:NamedThing deferent duct vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000839 biolink:NamedThing kidney proximal straight tubule epithelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001046 cell owl:Class MONDO:0020733 biolink:NamedThing proximal symphalangism 1A tmpaxzxjjyw_mondo_relaxed.owl symphalangism, proximal, 1A|symphalangism, proximal, type 1A|SYM1A|Cushing symphalangism|Sym1|hereditary absence of the proximal interphalangeal joints OMIM:185800|UMLS:C3714899|Orphanet:3250 owl:Class Nbdae7adbad874518a0c3a84da09c04e4 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010164 biolink:NamedThing phocomelia, Schinzel type Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder. tmpaxzxjjyw_mondo_relaxed.owl Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome|Al-Awadi-Raas-Rothschild syndrome|profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence|ulna and fibula absence of with severe limb deficiency|ulna and fibula, absence of, with severe limb deficiency|AARRS|Al Awadi-Raas-Rothschild syndrome|congenital absence of ulna and fibula|severe limb deficit|Teebi Naguib Al Awadi syndrome|Al Awadi Teebi Farag syndrome|Al-Awadi/Raas-Rothschild syndrome|Schinzel phocomelia syndrome|limb/pelvis-hypoplasia/aplasia syndrome|absence of ulna and fibula with severe limb deficiency|aplasia/hypoplasia of limbs and pelvis MESH:C535612|Orphanet:2879|OMIM:276820|GARD:0005124|GARD:0009212|ICD10:Q87.2|SCTID:715522000 owl:Class UBERON:0001604 biolink:NamedThing levator palpebrae superioris tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006118 biolink:NamedThing breast fibrosis Breast fibrocystic change characterized by the prominence of fibrotic changes in the parenchyma. tmpaxzxjjyw_mondo_relaxed.owl fibrosis of breast|fibrosclerosis of breast|breast fibrosis|fibrosis of the breast|fibrosclerosis of the breast|breast fibrosclerosis EFO:1000145|ICD9:610.3|UMLS:C0156318|ICD10:N60.3|NCIT:C3660|DOID:10353|SCTID:29070004 owl:Class HGNC:25964 biolink:NamedThing RETREG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010551 biolink:NamedThing pedal digit 5 metatarsal pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011106 biolink:NamedThing facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. tmpaxzxjjyw_mondo_relaxed.owl ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism|facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs|facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome|FDLAB syndrome|FDLAB|Traboulsi syndrome|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome MESH:C563293|UMLS:C1832167|ICD10:Q87.0|Orphanet:412022|OMIM:601552 owl:Class HGNC:757 biolink:NamedThing ASPH tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000272 biolink:NamedThing Malar flattening Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. tmpaxzxjjyw_mondo_relaxed.owl Hypotrophic malar bone|Underdevelopment of malar bone|Depressed malar region|Zygomatic flattening|Malar hypoplasia|Decreased size of malar bone|Flat cheekbone UMLS:C4280651|UMLS:C1858085 The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. HP:0000332|HP:0100846|HP:0004671|HP:0004642|HP:0005455|HP:0005319|HP:0005443|HP:0000312|HP:0004658 human_phenotype owl:Class HGNC:2475 biolink:NamedThing CST3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010511 biolink:NamedThing regulation of phosphatidylinositol biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904220 biolink:NamedThing regulation of serine C-palmitoyltransferase activity Any process that modulates the frequency, rate or extent of serine C-palmitoyltransferase activity. tmpaxzxjjyw_mondo_relaxed.owl regulation of 3-oxosphinganine synthetase activity|regulation of serine palmitoyltransferase|regulation of SPT|regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity owl:Class CHEBI:60164 biolink:NamedThing ionic polymer An ionic polymer is a polymer, composed of ionic macromolecules. tmpaxzxjjyw_mondo_relaxed.owl polyionic polymer owl:Class CL:0000492 biolink:NamedThing CD4-positive helper T cell A CD4-positive, alpha-beta T cell that cooperates with other lymphocytes via direct contact or cytokine release to initiate a variety of immune functions. tmpaxzxjjyw_mondo_relaxed.owl CD4-positive helper T-lymphocyte|CD4-positive T-helper cell|CD4-positive helper T-cell|CD4-positive helper T lymphocyte CALOHA:TS-1146|FMA:70572 cell owl:Class MONDO:0016203 biolink:NamedThing hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209902|ICD10:E78.0 owl:Class MONDO:0012854 biolink:NamedThing bilateral microtia-deafness-cleft palate syndrome This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate. tmpaxzxjjyw_mondo_relaxed.owl microtia, hearing impairment, and cleft palate|microtia with or without hearing impairment ICD10:Q87.0|MESH:C567359|OMIM:612290|Orphanet:140963|UMLS:C2676772 owl:Class UBERON:0005010 biolink:NamedThing mucosa of neck of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008473 biolink:NamedThing spondyloepimetaphyseal dysplasia, Maroteaux type A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis. tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia, Maroteaux type|pseudo-Morquio syndrome, type 2|spondyloepiphyseal dysplasia Maroteaux type|brachyolmia Maroteaux type|spondyloepimetaphyseal dysplasia, Maroteaux type|SED, Maroteaux type|pseudo-Morquio syndrome type 2 GARD:0000994|DOID:0111553|ICD10:Q77.7|UMLS:CN202294|SCTID:719204007|Orphanet:263482|OMIM:184095 https://github.com/monarch-initiative/mondo/issues/2706 owl:Class HGNC:6949 biolink:NamedThing MCM6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008393 biolink:NamedThing Rubinstein-Taybi syndrome due to CREBBP mutations Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene. tmpaxzxjjyw_mondo_relaxed.owl broad thumbs and great toes, characteristic facies, and intellectual disability|broad thumbs and great toes, characteristic facies, and mental retardation|CREBBP Rubinstein-Taybi syndrome|RSTS|Rubinstein syndrome|Rubinstein-Taybi syndrome caused by mutation in CREBBP|Rubinstein-Taybi syndrome type 1|RSTS1|Rubinstein-Taybi syndrome due to CREBBP mutations|Rubinstein-Taybi syndrome 1|broad thumb-hallux syndrome Orphanet:353277|UMLS:C0035934|OMIM:180849|ICD10:Q87.2|Orphanet:783|NCIT:C153290 owl:Class HGNC:2348 biolink:NamedThing CREBBP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013427 biolink:NamedThing immunodeficiency 31B tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 31B|immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive|STAT1 deficiency|susceptibility to viral and mycobacterial infections|Stat1 deficiency, autosomal recessive|immunodeficiency type 31B|IMD31B Orphanet:391311|OMIM:613796|ICD10:D84.8|UMLS:C3151088 owl:Class HGNC:11362 biolink:NamedThing STAT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021300 biolink:NamedThing adenoid cystic carcinoma of oropharynx A adenoid cystic carcinoma that involves the oropharynx. tmpaxzxjjyw_mondo_relaxed.owl oropharynx adenoid cystic carcinoma|oropharyngeal throat adenoid cystic cancer|adenoid cystic carcinoma of the oropharynx|oropharyngeal adenoid cystic carcinoma NCIT:C6241|UMLS:C1335139|SCTID:423318000 owl:Class MONDO:0001444 biolink:NamedThing Chagas disease A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias. tmpaxzxjjyw_mondo_relaxed.owl American trypanosomiasis|Chagas' disease with nervous system involvement|Chagas' disease|Trypanosoma cruzi disease or disorder|Trypanosoma cruzi infectious disease|Chagas' disease with other organ involvement|infection by trypanosoma cruzi|Trypanosoma cruzi caused disease or disorder|south American trypanosomiasis|Chagas-mazza disease|infection caused by trypanosoma cruzi|Chagas' disease with digestive system involvement|Chagas disease SCTID:77506005|ICD10:B57.5|EFO:0008559|KEGG:05142|ICD10:B57.0|UMLS:C0041234|UMLS:C0153125|ICD10:B57.4|ICD9:086.2|ICD10:B57|UMLS:C0348782|ICD10:B57.1|UMLS:C0348781|DOID:12140|Orphanet:3386|ICD10:B57.3|MedDRA:10001935|NCIT:C84629|ICD10:B57.2|MESH:D014355 owl:Class MONDO:0007361 biolink:NamedThing C1 inhibitor deficiency tmpaxzxjjyw_mondo_relaxed.owl complement component 4, partial deficiency OF Orphanet:459353|DOID:0060002|ICD10:D84.1|Orphanet:169147|OMIM:120790|UMLS:C1852700 owl:Class HP:0004431 biolink:NamedThing Complement deficiency An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272242|SNOMEDCT_US:24743004 peter 2008-03-18T09:51:00Z human_phenotype owl:Class UBERON:0001131 biolink:NamedThing vertebral foramen tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0097006 biolink:NamedThing regulation of plasma lipoprotein particle levels Any process involved in the maintenance of internal levels of plasma lipoprotein particles within an organism. tmpaxzxjjyw_mondo_relaxed.owl plasma lipoprotein particle homeostasis owl:Class MONDO:0013954 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Any autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency in which the cause of the disease is a mutation in the IL12B gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12B|Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency|MSMD due to complete interleukin 12B deficiency|immunodeficiency 29|IMD29|immunodeficiency type 29|IL12B deficiency|IL12B autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|MSMD due to complete IL12B deficiency ICD10:D84.8|UMLS:C4013948|OMIM:614890|Orphanet:319558 owl:Class HGNC:5970 biolink:NamedThing IL12B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012658 biolink:NamedThing brachydactyly type B2 Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, type B2|BDB2 Orphanet:140908|DOID:0110975|UMLS:C1969652|OMIM:611377|SCTID:770406002|ICD10:Q73.8 https://github.com/monarch-initiative/mondo/issues/3709 owl:Class GO:0032057 biolink:NamedThing negative regulation of translational initiation in response to stress Any process that stops, prevents or reduces the rate of translation initiation as a result of a stimulus indicating the organism is under stress. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of translation initiation in response to stress|down regulation of translation initiation in response to stress|inhibition of translation initiation in response to stress|downregulation of translation initiation in response to stress owl:Class GO:0006950 biolink:NamedThing response to stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpaxzxjjyw_mondo_relaxed.owl response to abiotic stress|response to biotic stress owl:Class NCBITaxon:724 biolink:NamedThing Haemophilus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:1736960 ncbi_taxonomy owl:Class CL:0000353 biolink:NamedThing blastoderm cell An undifferentiated cell produced by early cleavages of the fertilized egg (zygote). tmpaxzxjjyw_mondo_relaxed.owl blastomere BTO:0001473|FMA:72551 cell owl:Class UBERON:0001265 biolink:NamedThing trabecula of spleen tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003110 biolink:NamedThing otic region tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:20376 biolink:NamedThing SUMF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:27310 biolink:NamedThing FLCN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005919 biolink:NamedThing placental insufficiency Failure of the placenta to deliver an adequate supply of nutrients and oxygen to the fetus. tmpaxzxjjyw_mondo_relaxed.owl insufficiency, placental|uteroplacental vascular insufficiency SCTID:237292005|EFO:0007443|ICD9:762.2|UMLS:C0032051|ICD10:O36.5|MESH:D010927|DOID:3891|Orphanet:439167 owl:Class MONDO:0013292 biolink:NamedThing chromosome 4q21 deletion syndrome The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech. tmpaxzxjjyw_mondo_relaxed.owl chromosome 4q21 deletion syndrome|4q21 microdeletion syndrome|Del(4)(q21)|monosomy 4q21 SCTID:719660008|UMLS:C4304530|DOID:0060420|ICD10:Q93.5|Orphanet:238750|UMLS:C3150756|OMIM:613509 owl:Class UBERON:0002042 biolink:NamedThing lymphatic vessel endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001549 biolink:NamedThing dorsal metatarsal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008783 biolink:NamedThing dorsal venous arch tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:23019 biolink:NamedThing carbonyl group tmpaxzxjjyw_mondo_relaxed.owl carbonyl group|>C=O|carbonyl owl:Class MONDO:0008005 biolink:NamedThing cardiospondylocarpofacial syndrome Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance. tmpaxzxjjyw_mondo_relaxed.owl congenital heart disease, deafness, and skeletal malformations|mitral regurgitation-deafness-skeletal anomalies syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones|Forney-Robinson-Pascoe syndrome|CSCF|cardiospondylocarpofacial syndrome|Forney Robinson Pascoe syndrome|Forney syndrome OMIM:157800|SCTID:720612000|Orphanet:3238|UMLS:CN204053|MESH:C563572|GARD:0002362 owl:Class MONDO:0014134 biolink:NamedThing pulmonary hypertension, primary, 2 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene. tmpaxzxjjyw_mondo_relaxed.owl pulmonary hypertension, primary, type 2|pulmonary hypertension, primary, 2|PPH2|primary pulmonary hypertension caused by mutation in SMAD9|SMAD9 primary pulmonary hypertension UMLS:C3888002|Orphanet:422|OMIM:615342 owl:Class HGNC:6774 biolink:NamedThing SMAD9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042310 biolink:NamedThing vasoconstriction A decrease in the diameter of blood vessels, especially arteries, due to constriction of smooth muscle cells that line the vessels, and usually causing an increase in blood pressure. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of blood vessel size owl:Class UBERON:5003635 biolink:NamedThing pedal digit 5 plus metapodial segment tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001790 biolink:NamedThing outer plexiform layer of retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004067 biolink:NamedThing gallbladder mucinous adenocarcinoma An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of extracellular mucin that constitutes more than fifty-percent of the tumor. tmpaxzxjjyw_mondo_relaxed.owl gallbladder colloid carcinoma|mucinous carcinoma of gallbladder|mucinous carcinoma of the gallbladder|gallbladder colloidal carcinoma|colloidal carcinoma of gallbladder|colloidal carcinoma of the gallbladder|colloid carcinoma of the gallbladder|gall bladder mucinous adenocarcinoma|gallbladder mucinous adenocarcinoma|gallbladder mucinous carcinoma|colloid carcinoma of gallbladder NCIT:C5744|DOID:6998|UMLS:C1333750 owl:Class CHEBI:59163 biolink:NamedThing biomarker A substance used as an indicator of a biological state. tmpaxzxjjyw_mondo_relaxed.owl biological marker owl:Class UBERON:0000403 biolink:NamedThing scalp tmpaxzxjjyw_mondo_relaxed.owl owl:Class N1a8773082ec4404da160bf3112e4796a biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:1014 biolink:NamedThing BCR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019345 biolink:NamedThing shigellosis Shigellosis is a bacterial infection leading to dysentery and is caused by Shigella, which are small, ubiquitous Gram-negative bacteria belonging to the enterobacteria family. There are four species: S. dysenteriae, S. flexneri, S. boydii and S. sonnei, all of which cause bacillary dysentery and are strictly limited to human hosts. tmpaxzxjjyw_mondo_relaxed.owl shigellosis|Shigella flexneri infectious disease|Shigella sonnei infectious disease|Shigella boydii infectious disease|bacillary dysentery|flexner's dysentery|Shigella dysentery|Shigella gastroenteritis|japanese dysentery ICD9:004|MedDRA:10054178|ICD9:004.0|DOID:12385|KEGG:05131|ICD10:A03.3|ICD10:A03|ICD10:A03.8|EFO:0005585|ICD10:A03.9|GARD:0004818|ICD10:A03.1|ICD10:A03.0|ICD9:004.9|ICD9:004.1|ICD9:004.3|Orphanet:810|ICD10:A03.2|MESH:D004405|SCTID:36188001|MedDRA:10017915|ICD9:004.2 https://rarediseases.info.nih.gov/diseases/4818/shigellosis owl:Class MONDO:0020737 biolink:NamedThing optic atrophy 10 with or without ataxia, intellectual disability, and seizures tmpaxzxjjyw_mondo_relaxed.owl optic atrophy 10 with or without ataxia, mental retardation, and seizures|OPA10|optic atrophy 10 with or without ataxia, intellectual disability, and seizures DOID:0111434|OMIM:616732 owl:Class HGNC:18647 biolink:NamedThing RTN4IP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013659 biolink:NamedThing microcephaly-capillary malformation syndrome tmpaxzxjjyw_mondo_relaxed.owl microcephaly-cutaneous capillary malformation syndrome|microcephaly-capillary malformation syndrome|MIC-CAP syndrome|MICCAP|MIC-CM syndrome Orphanet:294016|ICD10:Q87.8|UMLS:C3280296|ICD9:759.89|SCTID:703369003|OMIM:614261 owl:Class UBERON:0001179 biolink:NamedThing peritoneal cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0012758 biolink:NamedThing Neurodevelopmental delay tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4022738 peter 2014-04-03T12:16:19Z human_phenotype owl:Class GO:0002182 biolink:NamedThing cytoplasmic translational elongation The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in the cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015341 biolink:NamedThing congenital panfollicular nevus Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed. tmpaxzxjjyw_mondo_relaxed.owl congenital panfollicular nevus|congenital panfollicular nevus (disease) congenital panfollicular nevus (disease) HP:0025471|Orphanet:139414 owl:Class UBERON:0000399 biolink:NamedThing jejunal mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000084 biolink:NamedThing 2-5 year-old child stage Child stage that refers to a child who is over 24 months and under 6 years old. tmpaxzxjjyw_mondo_relaxed.owl preschool child owl:Class UBERON:0007254 biolink:NamedThing intervertebral disk of thoracic vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001089 biolink:NamedThing aerosolised solids An aerosol which has non-gaseous parts that are primarily composed of solid particles. tmpaxzxjjyw_mondo_relaxed.owl solid aerosol owl:Class OBO:CHR_9606-chr17q21.31 biolink:NamedThing 17q21.31 (Human) tmpaxzxjjyw_mondo_relaxed.owl 46800000 42800000 hg38 owl:Class MONDO:0043549 biolink:NamedThing crush syndrome A medical condition characterized by major shock and renal failure after a crushing injury to skeletal muscle. tmpaxzxjjyw_mondo_relaxed.owl syndrome, crush|crush syndromes|syndromes, crush|bywaters' syndrome|myoglobinuric nephrosis|crush syndrome|acute renal failure due to rhabdomyolysis|renal failure following crushing injury|ischemic muscular necrosis syndrome|crush kidney|myoglobinuric acute renal failure SCTID:23697004|MESH:D003444 owl:Class UBERON:0004475 biolink:NamedThing musculature of hip tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011601 biolink:NamedThing gingiva of upper jaw tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043264 biolink:NamedThing extracellular non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring outside the cell. tmpaxzxjjyw_mondo_relaxed.owl extracellular non-membrane-enclosed organelle owl:Class MONDO:0013526 biolink:NamedThing progressive myoclonic epilepsy type 6 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene. tmpaxzxjjyw_mondo_relaxed.owl epilepsy, progressive myoclonic, type 6|progressive myoclonic epilepsy caused by mutation in GOSR2|EPM6|progressive myoclonus epilepsy type 6|GOSR2-related progressive myoclonus ataxia|GOSR2 progressive myoclonic epilepsy|North Sea progressive myoclonus epilepsy|PME type 6|epilepsy, progressive myoclonic, 6 ICD10:G40.3|OMIM:614018|Orphanet:280620|GARD:0003872|UMLS:C3279627|DOID:0111449 owl:Class HGNC:4431 biolink:NamedThing GOSR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2567 biolink:NamedThing OFD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001952 biolink:NamedThing parietal lobe cancer A malignant neoplasm involving the parietal lobe tmpaxzxjjyw_mondo_relaxed.owl malignant parietal lobe neoplasm|malignant neoplasm of parietal lobe|parietal lobe neoplasm|cancer of parietal lobe|parietal lobe cancer UMLS:C0153637|NCIT:C5573|SCTID:126956001|ICD9:191.3|UMLS:C1263888|SCTID:363469001|DOID:14384|ICD10:C71.3 owl:Class HGNC:2227 biolink:NamedThing COMP tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002177 biolink:NamedThing folliculostellate cell of pars distalis of adenohypophysis A supporting cell of the anterior pituitary gland involved in trophic and catabolic processes; expresses a broad spectrum of cytokeratins indicative of their epithelial nature. tmpaxzxjjyw_mondo_relaxed.owl folliculostellate cell of pars anterior of adenohypophysis FMA:83102 tmeehan 2010-08-25T03:10:10Z cell owl:Class HGNC:19181 biolink:NamedThing KIF14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018114 biolink:NamedThing right kidney interstitium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009266 biolink:NamedThing Gaucher disease type II Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2. tmpaxzxjjyw_mondo_relaxed.owl Gd 2|Gaucher disease, type II|Gaucher disease, acute neuronopathic type|Gaucher disease, type 2|Gaucher disease type 2|GD II|Gaucher disease type II|Gaucher disease, infantile cerebral|Gaucher's disease type II|infantile cerebral Gaucher disease|acute neuronopathic Gaucher disease SCTID:12246008|OMIM:230900|ICD10:E75.2|GARD:0002442|DOID:0110958|Orphanet:355|Orphanet:77260 owl:Class MONDO:0009115 biolink:NamedThing congenital lactase deficiency Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula. tmpaxzxjjyw_mondo_relaxed.owl lactase deficiency, congenital|Alactasia, congenital|congenital lactase deficiency|disaccharide intolerance 2 ICD10:E73.0|DOID:0111646|MESH:C562600|SCTID:5388008|Orphanet:53690|OMIM:223000|GARD:0012311|ICD9:271.3 https://rarediseases.info.nih.gov/diseases/12311/congenital-lactase-deficiency owl:Class HGNC:23088 biolink:NamedThing SLC10A7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014615 biolink:NamedThing trichothiodystrophy 2, photosensitive tmpaxzxjjyw_mondo_relaxed.owl trichothiodystrophy 2, photosensitive|TTD2 UMLS:C4225344|OMIM:616390 owl:Class HGNC:3435 biolink:NamedThing ERCC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003005 biolink:NamedThing macular retinal edema Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision. tmpaxzxjjyw_mondo_relaxed.owl retinal edema of macula lutea|macula lutea retinal edema|edema, macular|macular edema NCIT:C35468|SCTID:37231002|UMLS:C0271051|DOID:4449 owl:Class UBERON:0000053 biolink:NamedThing macula lutea tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005424 biolink:NamedThing presumptive retinal pigmented epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018511 biolink:NamedThing epithelial tumor of the appendix A epithelial neoplasm that involves the vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl vermiform appendix epithelial neoplasm|appendiceal epithelial tumor UMLS:CN237516|Orphanet:423982 owl:Class HGNC:19957 biolink:NamedThing TECPR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0100774 biolink:NamedThing Hyperostosis Excessive growth or abnormal thickening of bone tissue. tmpaxzxjjyw_mondo_relaxed.owl Bone overgrowth|Bone Hypertrophy MSH:D015576|SNOMEDCT_US:203514008|SNOMEDCT_US:13814009|UMLS:C0020492 Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). doelkens 2011-06-07T05:17:19Z human_phenotype owl:Class UBERON:0003436 biolink:NamedThing shoulder nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004336 biolink:NamedThing rectal signet ring cell adenocarcinoma An infiltrating adenocarcinoma arising from the rectum. It is characterized by the presence of malignant glandular cells with prominent intracytoplasmic mucin. These cells constitute more than 50% of the malignant cellular population. tmpaxzxjjyw_mondo_relaxed.owl rectum signet ring adenocarcinoma|signet Ring cell adenocarcinoma of the rectum|signet Ring cell adenocarcinoma of rectum|rectum signet ring cell carcinoma|signet Ring adenocarcinoma of the rectum|rectal signet Ring cell adenocarcinoma|signet Ring adenocarcinoma of rectum UMLS:C0279654|NCIT:C9168|DOID:7707 owl:Class CL:0010003 biolink:NamedThing epithelial cell of alveolus of lung An epithelial cell that is part_of a alveolus of lung. tmpaxzxjjyw_mondo_relaxed.owl alveolus of lung epithelial cell May be merged with pneumocyte in future GOC:cjm owl:Class UBERON:0001304 biolink:NamedThing germinal epithelium of ovary tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5209 biolink:NamedThing HSD11B2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001957 biolink:NamedThing intramembranous ossification Direct ossification that occurs within mesenchyme or an accumulation of relatively unspecialized cells. tmpaxzxjjyw_mondo_relaxed.owl intramembranous bone ossification|dermal ossification owl:Class UBERON:0035074 biolink:NamedThing duct of apocrine sweat gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000375 biolink:NamedThing mandibular nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000807 biolink:NamedThing DN3 thymocyte A thymocyte that has the phenotype CD4-negative, CD8-negative, CD44-negative, and CD25-positive and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. tmpaxzxjjyw_mondo_relaxed.owl TN3 cell|DN3 alpha-beta immature T lymphocyte|preT.DN3.Th|TN3 thymocyte|DN3 immature T cell|double negative 3|DN3 cell|early cortical thymocyte|DN3 alpha-beta immature T-lymphocyte|DN3 alpha-beta immature T-cell cell owl:Class MONDO:0012809 biolink:NamedThing histiocytoma, Angiomatoid fibrous A low malignant potential soft tissue neoplasm of uncertain differentiation. It typically affects young patients, presenting as a slowly growing nodular or cystic tumor mass, most often in the subcutaneous tissues of the extremities. Occasionally, patients have systemic symptoms (anemia, fever, and weight loss). This tumor has a relatively good prognosis. A minority of patients develop local recurrences. Metastases are rare. tmpaxzxjjyw_mondo_relaxed.owl AFH|histiocytoma, Angiomatoid fibrous|angiomatoid fibrous histiocytoma|angiomatoid malignant fibrous histiocytoma Orphanet:569164|MESH:C563181|UMLS:C1266127|OMIM:612160|NCIT:C6494|ICDO:8836/1|ONCOTREE:AFH owl:Class UBERON:0005873 biolink:NamedThing 2nd arch pharyngeal cleft tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021048 biolink:NamedThing benign mastocytoma A localized mast cell neoplasm without metastatic potential. tmpaxzxjjyw_mondo_relaxed.owl benign mastocytoma|MAST cell tumor, benign|mastocytoma, benign NCIT:C3217|NCIT:C9303|UMLS:C2242987|ICD10:D47.0|DOID:4658|UMLS:C0024897|SCTID:404171008 owl:Class MONDO:0014685 biolink:NamedThing progressive myoclonic epilepsy type 9 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene. tmpaxzxjjyw_mondo_relaxed.owl epilepsy, progressive myoclonic, 9|epilepsy, progressive myoclonic, type 9|progressive myoclonic epilepsy caused by mutation in LMNB2|LMNB2 progressive myoclonic epilepsy|progressive myoclonic epilepsy due to LMNB2 deficiency|PME type 9|EPM9|progressive myoclonus epilepsy type 9 DOID:0111450|UMLS:C4225289|ICD10:G40.3|OMIM:616540|Orphanet:457265 owl:Class MONDO:0014197 biolink:NamedThing combined immunodeficiency due to MALT1 deficiency Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections. tmpaxzxjjyw_mondo_relaxed.owl IMD12|combined immunodeficiency due to MALT1 deficiency|immunodeficiency type 12|immunodeficiency 12 ICD10:D81.8|OMIM:615468|Orphanet:397964|UMLS:C3809583 owl:Class HGNC:6819 biolink:NamedThing MALT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071829 biolink:NamedThing plasma lipoprotein particle disassembly The disaggregation of a plasma lipoprotein particle into its constituent components. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006289 biolink:NamedThing nucleotide-excision repair A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). tmpaxzxjjyw_mondo_relaxed.owl pyrimidine-dimer repair, DNA damage excision|NER|intrastrand cross-link repair owl:Class UBERON:0000331 biolink:NamedThing ileal mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021540 biolink:NamedThing hamartoma of lung A hamartoma (disease) that involves the lung. tmpaxzxjjyw_mondo_relaxed.owl lung hamartoma (disease)|lung hamartoma|hamartoma of the lung|pulmonary hamartoma|lung chondroid hamartoma NCIT:C3497|UMLS:C0149927|SCTID:254644003|ICD9:235.7 owl:Class MONDO:0013755 biolink:NamedThing PYCR1-related de Barsy syndrome Any de Barsy syndrome in which the cause of the disease is a mutation in the PYCR1 gene. tmpaxzxjjyw_mondo_relaxed.owl PYCR1 deficiency|de Barsy syndrome caused by mutation in PYCR1|cutis laxa, autosomal recessive, type 3B|pyrroline-5-carboxylate reductase 1 deficiency|cutis laxa, autosomal recessive, type IIIB|autosomal recessive cutis laxa type IIIB|ARCL3B|De Barsy syndrome B|PYCR1 de Barsy syndrome UMLS:C3280799|Orphanet:293633|ICD10:Q82.8|ICD10:Q87.8|DOID:0070138|Orphanet:2962|OMIM:614438 owl:Class MONDO:0007037 biolink:NamedThing achondroplasia Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl achondroplastic dwarfism|osteosclerosis congenita|achondroplasia|chondrodystrophia|ach|achondroplastic physique Orphanet:15|UMLS:C0001080|OMIM:100800|DOID:4480|ICD10:Q77.4|MedDRA:10000452|MESH:D000130|NCIT:C34345|SCTID:86268005|GARD:0008173 https://rarediseases.info.nih.gov/diseases/8173/achondroplasia owl:Class UBERON:0001534 biolink:NamedThing right subclavian artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3686 biolink:NamedThing FGF8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003124 biolink:NamedThing Hypercholesterolemia An increased concentration of cholesterol in the blood. tmpaxzxjjyw_mondo_relaxed.owl Elevated total cholesterol|Increased total cholesterol|Elevated serum cholesterol|High cholesterol SNOMEDCT_US:166830008|MSH:D006937|SNOMEDCT_US:13644009|UMLS:C0020443|UMLS:C0595929 HP:0008173|HP:0008359|HP:0008154 human_phenotype owl:Class MONDO:0010964 biolink:NamedThing epiphyseal dysplasia, multiple, 3 Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene. tmpaxzxjjyw_mondo_relaxed.owl epiphyseal dysplasia, multiple, 3|epiphyseal dysplasia, multiple, type 3|COL9A3 multiple epiphyseal dysplasia (disease)|epiphyseal dysplasia multiple 3|multiple epiphyseal dysplasia 3|EDM3|epiphyseal dysplasia, multiple, 3, with myopathy|multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3 MESH:C535503|UMLS:C1832998|GARD:0009792|OMIM:600969|Orphanet:166002|DOID:0070304 https://rarediseases.info.nih.gov/diseases/9792/multiple-epiphyseal-dysplasia-3 owl:Class HGNC:2219 biolink:NamedThing COL9A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005117 biolink:NamedThing metanephric distal convoluted tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000041 biolink:NamedThing dermis microvascular lymphatic vessel endothelial cell Any dermis lymphatic vessel endothelial cell that is part of a microvascular endothelium. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-07-09T00:09:54Z cell owl:Class UBERON:0008339 biolink:NamedThing microvascular endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005217 biolink:NamedThing midbrain subarachnoid space tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012110 biolink:NamedThing growth delay due to insulin-like growth factor type 1 deficiency Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl growth retardation with sensorineural deafness and intellectual disability|IGF1 deficiency|growth delay-deafness- intellectual disability syndrome|growth retardation with sensorineural deafness and mental retardation|primary insulin-like growth factor deficiency|IGF-1 deficiency|insulin-like growth factor I deficiency|insulin-like growth Factor 1 deficiency ICD10:E34.3|UMLS:C4518327|OMIM:608747|SCTID:724385009|UMLS:C1837475|Orphanet:73272|GARD:0010627|MESH:C563867 owl:Class HGNC:5464 biolink:NamedThing IGF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006413 biolink:NamedThing translational initiation The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. tmpaxzxjjyw_mondo_relaxed.owl protein synthesis initiation|biopolymerisation|translation initiation|biopolymerization owl:Class UBERON:0004293 biolink:NamedThing parasympathetic nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001792 biolink:NamedThing ganglionic layer of retina tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012522 biolink:NamedThing diabetes mellitus, transient neonatal, 3 Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene. tmpaxzxjjyw_mondo_relaxed.owl KCNJ11 transient neonatal diabetes mellitus (disease)|Tndm3|diabetes mellitus, transient neonatal, type 3|diabetes mellitus, type II, autosomal dominant|transient neonatal diabetes mellitus (disease) caused by mutation in KCNJ11|diabetes mellitus, transient neonatal, 3 SCTID:609581006|Orphanet:99886|OMIM:610582 owl:Class UBERON:0001713 biolink:NamedThing lower eyelid tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005995 biolink:NamedThing mitral valve anulus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7127 biolink:NamedThing MLH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015306 biolink:NamedThing Lemierre syndrome Lemierre syndrome is a rare, potentially lethal, oropharyngeal infectious disease occurring in immunocompetent adolescents and young adults that is mainly due to Fusobacterium necrophorum and that is characterized by septic thrombophlebitis of the internal jugular vein that leads to septic, usually pulmonary, embolism, associated with ENT (ear, nose, and throat) infection that manifests with fever, neck pain, and tonsillopharyngitis. tmpaxzxjjyw_mondo_relaxed.owl necrobacillosis|human necrobacillosis|postanginal sepsis|Lemierre's syndrome|oropharyngeal infection leading to secondary septic thrombophlebitis of the internal jugular vein|acute sore throat|postanginal sepsis secondary to orophyngeal infection|Lemierre syndrome|septic phlebitis of the internal jugular vein|Lemierre postanginal sepsis SCTID:52542005|DOID:11337|MedDRA:10065552|GARD:0006882|Orphanet:137839|ICD10:I80.8|ICD9:040.3|MESH:D057831 https://rarediseases.info.nih.gov/diseases/6882/lemierre-syndrome owl:Class MONDO:0003211 biolink:NamedThing nasal cavity adenocarcinoma A carcinoma that arises from glandular epithelial cells of the nasal cavity tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of nasal cavity|adenocarcinoma of the nasal cavity|nasal cavity adenocarcinoma NCIT:C6015|DOID:4930|UMLS:C1334920 owl:Class MONDO:0003369 biolink:NamedThing vagina leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the vagina. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl vaginal leiomyosarcoma|vagina leiomyosarcoma|leiomyosarcoma of the vagina|leiomyosarcoma of vagina DOID:5283|NCIT:C6326|UMLS:C1336940 owl:Class MONDO:0009029 biolink:NamedThing cranial nerves, congenital paresis of tmpaxzxjjyw_mondo_relaxed.owl cranial nerves, congenital paresis of MESH:C565673|OMIM:218100|UMLS:C1857531 owl:Class MONDO:0014117 biolink:NamedThing Charcot-Marie-Tooth disease type 4B3 Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss). tmpaxzxjjyw_mondo_relaxed.owl CMT4B3|Charcot-Marie-Tooth disease with focally folded myelin|Charcot-Marie-Tooth disease type 4 caused by mutation in SBF1|Charcot-Marie-Tooth disease, type 4B3|SBF1 Charcot-Marie-Tooth disease type 4 DOID:0110194|OMIM:615284|SCTID:763345008|UMLS:C3695063|ICD10:G60.0|Orphanet:363981 owl:Class MONDO:0009968 biolink:NamedThing renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss tmpaxzxjjyw_mondo_relaxed.owl renal tubular acidosis with deafness|distal renal tubular acidosis co-occurrent with sensorineural deafness|autosomal recessive distal renal tubular acidosis with hearing loss|renal tubular acidosis type 1b|renal tubular acidosis, distal, with progressive nerve deafness|AR dRTA wth deafness|renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss|renal tubular acidosis, autosomal recessive, with progressive nerve deafness|renal tubular acidosis with progressive nerve deafness|renal tubular acidosis progressive nerve deafness|RTA with progressive nerve deafness|autosomal recessive distal renal tubular acidosis with deafness|AR dRTA with hearing loss ICD9:389.8|ICD9:588.89|UMLS:C0403554|SCTID:236532003|OMIM:267300|UMLS:C4302514|SCTID:722468005|MESH:C562897|Orphanet:93611|Orphanet:18|GARD:0004666|Orphanet:402041 owl:Class HGNC:9949 biolink:NamedThing RECQL4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006742 biolink:NamedThing canthus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021244 biolink:NamedThing submandibular gland neoplasm A neoplasm (disease) that involves the submandibular gland. tmpaxzxjjyw_mondo_relaxed.owl submandibular gland neoplasm (disease)|tumor of the submandibular gland|neoplasm of the submandibular gland|tumor of submandibular gland|submandibular gland tumor|neoplasm of submandibular gland SCTID:254464000|NCIT:C3393|UMLS:C0038558|EFO:1001853|MESH:D013365 owl:Class MONDO:0012709 biolink:NamedThing microphthalmia, isolated, with coloboma 5 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia, isolated, with coloboma caused by mutation in Shh|SHH microphthalmia, isolated, with coloboma|Shh microphthalmia, isolated, with coloboma|MCOPCB5|microphthalmia, isolated, with coloboma 5|microphthalmia, isolated, with coloboma type 5|microphthalmia, isolated, with coloboma caused by mutation in SHH MESH:C566899|OMIM:611638|Orphanet:98938|UMLS:C1968843 owl:Class CL:0000679 biolink:NamedThing glutamatergic neuron tmpaxzxjjyw_mondo_relaxed.owl WBbt:0006829 cell owl:Class OBO:CHR_9606-chr16p13.11 biolink:NamedThing 16p13.11 (Human) tmpaxzxjjyw_mondo_relaxed.owl 16700000 14700000 hg38 owl:Class UBERON:0010695 biolink:NamedThing mesenchyme of tarsal region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034724 biolink:NamedThing esophageal taste bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001693 biolink:NamedThing ego-dystonic sexual orientation A gender identity disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. tmpaxzxjjyw_mondo_relaxed.owl ICD9:302.0|DOID:13352 owl:Class UBERON:0004929 biolink:NamedThing submucosa of ascending colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013924 biolink:NamedThing osteogenesis imperfecta type 13 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene. tmpaxzxjjyw_mondo_relaxed.owl osteogenesis imperfecta, type XIII|OI13|BMP1 osteogenesis imperfecta|osteogenesis imperfecta, type 13|osteogenesis imperfecta type XIII|osteogenesis imperfecta caused by mutation in BMP1|OI, type 13 OMIM:614856|Orphanet:216812|ICD10:Q78.0|DOID:0110342|UMLS:C3553887 owl:Class HGNC:1067 biolink:NamedThing BMP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:127916 biolink:NamedThing Ichthyosporea tmpaxzxjjyw_mondo_relaxed.owl Mesomycetozoa|Mesomycetozoea|DRIP clade PMID:12142489|PMID:8876236|PMID:10449446|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012153 biolink:NamedThing Alzheimer disease 9 tmpaxzxjjyw_mondo_relaxed.owl AD9|Alzheimer disease 9, susceptibility to|Alzheimer disease 9|Alzheimer disease 9, late-onset Orphanet:1020|UMLS:C1837149|OMIM:608907|DOID:0111364|MESH:C563834 owl:Class MONDO:0004956 biolink:NamedThing metastatic prostate carcinoma A carcinoma that arises from the prostate gland and has spread to other anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl prostate carcinoma metastatic|prostate cancer metastatic|metastatic prostate carcinoma|metastatic prostate cancer SCTID:314994000|ICD9:199.1|EFO:0000196|NCIT:C8946 owl:Class HP:0001153 biolink:NamedThing Septate vagina The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. tmpaxzxjjyw_mondo_relaxed.owl Double vagina UMLS:C0266411|SNOMEDCT_US:47054003 human_phenotype owl:Class MONDO:0005927 biolink:NamedThing polyomavirus infectious disease Infections with polyomavirus, which are often cultured from the urine of kidney transplant patients. Excretion of bk virus is associated with ureteral strictures and cystitis, and that of jc virus with progressive multifocal leukoencephalopathy (leukoencephalopathy, progressive multifocal). tmpaxzxjjyw_mondo_relaxed.owl MESH:D027601|UMLS:C0949804|EFO:0007451 owl:Class NCBITaxon:36362 biolink:NamedThing Polyomavirus sp. tmpaxzxjjyw_mondo_relaxed.owl Polyomavirus|Polyomaviruses GC_ID:1 NCBITaxon:10624 ncbi_taxonomy owl:Class UBERON:0005656 biolink:NamedThing lens vesicle epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2213 biolink:NamedThing COL6A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018246 biolink:NamedThing thyroid vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002021 biolink:NamedThing occipital lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005584 biolink:NamedThing congenital left-sided heart lesions Serious heritable structural anomalies of the left side of the heart, including hypoplastic left heart syndrome, aortic valve stenosis, coarctation of the aorta, mitral valve anomalies and bicuspid aortic valve, that are present from birth. tmpaxzxjjyw_mondo_relaxed.owl EFO:0005938|OMIM:241550|OMIM:614435 owl:Class ECTO:0000163 biolink:NamedThing exposure to organic cyclic compound An exposure to organic cyclic compound. tmpaxzxjjyw_mondo_relaxed.owl exposure to organic cyclic compound owl:Class UBERON:0001613 biolink:NamedThing occipital artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001796 biolink:NamedThing aqueous humor of eyeball tmpaxzxjjyw_mondo_relaxed.owl owl:Class PO:0000229 biolink:NamedThing flower meristem A portion of reproductive shoot apical meristem tissue (PO:0008028) that gives rise to the floral organs (PO:0025395). tmpaxzxjjyw_mondo_relaxed.owl floral meristem (exact)|floret meristem (narrow)|花芽分裂組織 (Japanese, exact)|mersitema floral (Spanish, exact)|Poaceae floret meristem (narrow)|tassel floret meristem (narrow)|floral apical meristem (related)|ear floret meristem (narrow) In Zea mays and other grasses, the floret meristem is part of a spikelet and develops into a specific type of floret. If you are annotating to this structure for Zea mays or other grasses, please also add an annotation to the spikelet type that the meristem is part of. Choose the most specific term possible from: spikelet (PO:0009051), ear spikelet (PO:0006320), ear pedicellate spikelet (PO:0006348), ear sessile spikelet (PO:0006349), tassel spikelet (PO:0006309), tassel pedicellate spikelet (PO:0006312), tassel sessile spikelet (PO:0006311). PO:0006374|PO:0025091|PO:0006373|PO:0006329 plant_anatomy owl:Class MONDO:0013623 biolink:NamedThing platelet-type bleeding disorder 11 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the GP6 gene. tmpaxzxjjyw_mondo_relaxed.owl bleeding diathesis due to glycoprotein VI deficiency|platelet-type bleeding disorder-11|BDPLT11|bleeding disorder, platelet-type, 11|GP6 inherited bleeding disorder, platelet-type|platelet-type bleeding disorder 11|glycoprotein VI deficiency|GP 6 deficiency|GP VI deficiency|inherited bleeding disorder, platelet-type caused by mutation in GP6|glycoprotein 6 deficiency OMIM:614201|GARD:0013293|SCTID:765977002|Orphanet:98885|UMLS:C3280120|Orphanet:73271|DOID:0111057|ICD10:D69.8 owl:Class GO:0046545 biolink:NamedThing development of primary female sexual characteristics The process whose specific outcome is the progression of the primary female sexual characteristics over time, from their formation to the mature structure. The primary female sexual characteristics are the ovaries, and they develop in response to sex hormone secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011104 biolink:NamedThing epiphysis of fifth metacarpal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003649 biolink:NamedThing metacarpal bone of digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1001575 biolink:NamedThing uterine cervix squamous cell Squamous cell of uterine cervix epithelium. tmpaxzxjjyw_mondo_relaxed.owl uterine cervix squamous epithelial cells|cervix squamous epithelial cell|uterine cervix squamous epithelial cell|cervix, uterine squamous epithelial cells|cervix squamous cell CALOHA:TS-1251 owl:Class CL:1000449 biolink:NamedThing epithelial cell of nephron An epithelial cell that is part of the nephron. tmpaxzxjjyw_mondo_relaxed.owl FMA:70965 cell owl:Class UBERON:0001285 biolink:NamedThing nephron tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006452 biolink:NamedThing thymic sarcomatoid carcinoma A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma. tmpaxzxjjyw_mondo_relaxed.owl thymic sarcomatoid carcinoma|sarcomatoid carcinoma of the Thymus|sarcomatoid carcinoma of Thymus|Thymus sarcomatoid carcinoma|thymic carcinosarcoma|thymus sarcomatoid carcinoma|thymic spindle cell carcinoma UMLS:C1335924|NCIT:C6463|EFO:1000577|DOID:8138 owl:Class GO:0046323 biolink:NamedThing glucose import The directed movement of the hexose monosaccharide glucose into a cell or organelle. tmpaxzxjjyw_mondo_relaxed.owl glucose uptake owl:Class ECTO:0000922 biolink:NamedThing exposure to EC 3.5.1.4 (amidase) inhibitor An exposure to EC 3.5.1.4 (amidase) inhibitor. tmpaxzxjjyw_mondo_relaxed.owl exposure to EC 3.5.1.4 (amidase) inhibitor owl:Class MONDO:0024416 biolink:NamedThing Neorickettsia infectious disease A disease caused by infection with Neorickettsia. tmpaxzxjjyw_mondo_relaxed.owl neorickettsiosis|Neorickettsia disease or disorder|Neorickettsia caused disease or disorder UMLS:C0276121|SCTID:78355003 owl:Class GO:0005579 biolink:NamedThing membrane attack complex A protein complex produced by sequentially activated components of the complement cascade inserted into a target cell membrane and forming a pore leading to cell lysis via ion and water flow. tmpaxzxjjyw_mondo_relaxed.owl membrane attack complex protein alphaM chain|terminal complement complex|TCC|MAC|membrane attack complex protein beta2 chain owl:Class MONDO:0001654 biolink:NamedThing spermatic cord cancer A malignant neoplasm involving the spermatic cord. tmpaxzxjjyw_mondo_relaxed.owl malignant spermatic cord neoplasm|malignant tumor of the spermatic cord|spermatic cord cancer|malignant spermatic cord tumor|cancer of spermatic cord|malignant tumor of spermatic cord|spermatic cord Ca|malignant neoplasm of spermatic cord|malignant neoplasm of the spermatic cord DOID:13169|ICD10:C63.1|ICD9:187.6|NCIT:C3559|SCTID:363453008|UMLS:C0153603 owl:Class HGNC:5248 biolink:NamedThing HSPB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006621 biolink:NamedThing vulvar inverted follicular keratosis Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies. tmpaxzxjjyw_mondo_relaxed.owl inverted follicular keratosis of mammalian vulva|mammalian vulva inverted follicular keratosis NCIT:C40291|UMLS:C1520084|EFO:1000778|DOID:6943 owl:Class HGNC:18420 biolink:NamedThing SETD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001171 biolink:NamedThing portal lobule tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006127 biolink:NamedThing funiculus of spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024883 biolink:NamedThing metastatic neoplasm A tumor that has spread from its original (primary) site of growth to another site, close to or distant from the primary site. Metastasis is characteristic of advanced malignancies, but in rare instances can be seen in neoplasms lacking malignant morphology. tmpaxzxjjyw_mondo_relaxed.owl metastatic tumor|metastatic disease|metastatic neoplasm NCIT:C3261|ICDO:8000/6 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class MONDO:0012680 biolink:NamedThing nephronophthisis 7 Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene. tmpaxzxjjyw_mondo_relaxed.owl GLIS2 nephronophthisis (disease)|nephronophthisis type 7|nephronophthisis 7|NPHP7|nephronophthisis (disease) caused by mutation in GLIS2 MESH:C566930|OMIM:611498|DOID:0111116|UMLS:C1969092|Orphanet:655 owl:Class HGNC:29450 biolink:NamedThing GLIS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008805 biolink:NamedThing gingival groove tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002031 biolink:NamedThing cecal disorder Pathological developments in the cecum. tmpaxzxjjyw_mondo_relaxed.owl disorder of caecum|disease or disorder of caecum|caecum disease or disorder|caecum disease|disease of caecum SCTID:128525008|DOID:1518|UMLS:C0007527|MESH:D002429 owl:Class MONDO:0014699 biolink:NamedThing intellectual disability, autosomal dominant 40 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability 40|CHAMP1 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 40|autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1|MRD40|intellectual disability, autosomal dominant type 40|autosomal dominant mental retardation 40|mental retardation, autosomal dominant 40|mental retardation, autosomal dominant type 40|autosomal dominant intellectual disability 40 DOID:0070070|OMIM:616579|UMLS:C4225275 owl:Class MONDO:0009033 biolink:NamedThing temtamy syndrome Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities. tmpaxzxjjyw_mondo_relaxed.owl TEMTAMY syndrome|intellectual disability with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|TEMTYS|temtamy syndrome|craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation|Dysmorphism, corpus callosum agenesis and colobomas|Temtamy-Shalash syndrome|mental retardation with or without craniofacial Dysmorphism, ocular coloboma, or abnormal corpus callosum ICD10:Q87.8|DOID:0111621|NCIT:C148371|MESH:C536959|GARD:0005688|SCTID:719947004|UMLS:C1857512|Orphanet:1777|OMIM:218340 https://rarediseases.info.nih.gov/diseases/5688/temtamy-syndrome owl:Class HGNC:29521 biolink:NamedThing C12orf57 tmpaxzxjjyw_mondo_relaxed.owl owl:Class N22d4cde25db9409c8c2b615c226daabf biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0010134 biolink:NamedThing secretory circumventricular organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000775 biolink:NamedThing drug allergy Immunologically mediated adverse reactions to medicinal substances used legally or illegally. tmpaxzxjjyw_mondo_relaxed.owl allergy of exposure to drug|exposure to drug allergic disease DOID:0060500|MESH:D004342 owl:Class GO:0060688 biolink:NamedThing regulation of morphogenesis of a branching structure Any process that modulates the rate, frequency, or extent of branching morphogenesis, the process in which the anatomical structures of branches are generated and organized. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004961 biolink:NamedThing stage I endometrioid carcinoma Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb).It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage I, the cancer is only growing in the body of the uterus. It may also be growing into the glands of the cervix, but is not growing into the supporting connective tissue of the cervix. tmpaxzxjjyw_mondo_relaxed.owl EFO:0000205 owl:Class MONDO:0001610 biolink:NamedThing acute dacryocystitis Acute form of dacryocystitis. tmpaxzxjjyw_mondo_relaxed.owl dacryocystitis - acute|dacryocystitis, acute DOID:12996|SCTID:25470000|UMLS:C0155237|ICD10:H04.32|ICD9:375.32 owl:Class MONDO:0022398 biolink:NamedThing aglossia and situs inversus A disease characterized by complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs. tmpaxzxjjyw_mondo_relaxed.owl GARD:0009211 Editor note: check relationship to MONDO:0008740 https://rarediseases.info.nih.gov/diseases/9211/aglossia-and-situs-inversus owl:Class HP:0012730 biolink:NamedThing Aglossia Absence of the tongue owing to a developmental abnormality. tmpaxzxjjyw_mondo_relaxed.owl Failure of development of tongue|Absence of tongue|Missing tongue UMLS:C0158663|SNOMEDCT_US:74788000 peter 2014-03-23T02:30:53Z human_phenotype owl:Class MONDO:0012741 biolink:NamedThing prostate cancer, hereditary, 12 Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene. tmpaxzxjjyw_mondo_relaxed.owl HPC12|EHBP1 familial prostate cancer|familial prostate cancer caused by mutation in EHBP1|prostate cancer, hereditary, type 12|prostate cancer, hereditary, 12 MESH:C567510|OMIM:611868|UMLS:C2678479|Orphanet:1331 owl:Class HGNC:29144 biolink:NamedThing EHBP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0099522 biolink:NamedThing cytosolic region Any (proper) part of the cytosol of a single cell of sufficient size to still be considered cytosol. tmpaxzxjjyw_mondo_relaxed.owl region of cytosol owl:Class UBERON:0034719 biolink:NamedThing lip taste bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25133 biolink:NamedThing MARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007723 biolink:NamedThing interphalangeal joint of manual digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006910 biolink:NamedThing phagocytosis, recognition The initial step in phagocytosis involving adhesion to bacteria, immune complexes and other particulate matter, or an apoptotic cell and based on recognition of factors such as bacterial cell wall components, opsonins like complement and antibody or protein receptors and lipids like phosphatidyl serine, and leading to intracellular signaling in the phagocytosing cell. tmpaxzxjjyw_mondo_relaxed.owl recognition of phagocytosed substance by phagocytic cell owl:Class UBERON:0006356 biolink:NamedThing epigastric vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011852 biolink:NamedThing nonsyndromic congenital nail disorder 8 Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene. tmpaxzxjjyw_mondo_relaxed.owl COL7A1 inherited isolated nail anomaly|nonsyndromic congenital nail disorder type 8|NDNC8|toenail dystrophy, isolated|nail disorder, nonsyndromic congenital, type 8|nail disorder, nonsyndromic congenital, 8|inherited isolated nail anomaly caused by mutation in COL7A1 DOID:0080086|OMIM:607523|UMLS:C1843761|MESH:C564384 owl:Class MONDO:0002030 biolink:NamedThing chronic cervicitis Chronic inflammation of the cervix. tmpaxzxjjyw_mondo_relaxed.owl chronic cervicitis (disease)|cervicitis (disease), chronic DOID:1513|UMLS:C0269062|NCIT:C27057|SCTID:56728002 owl:Class MONDO:0012081 biolink:NamedThing 15q11q13 microduplication syndrome The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. tmpaxzxjjyw_mondo_relaxed.owl trisomy 15q11q13|15q11q13 duplication syndrome|dup(15)(q11q13)|autism, susceptibility to, 4|trisomy 15q11-q13|15q11-q13 duplication syndrome|15q11-q13 microduplication syndrome|chromosome 15Q11.2 Duplication syndrome|chromosome 15q11-q13 DUPLICATION syndrome|Duplication 15Q11-q13 syndrome SCTID:719427001|Orphanet:238446|UMLS:C4304726|ICD10:Q92.3|OMIM:608636|NCIT:C126692|UMLS:C2675336 owl:Class OBO:CHR_9606-chr15q11-q13 biolink:NamedThing 15q11-q13 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class UBERON:0000039 biolink:NamedThing follicular antrum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007478 biolink:NamedThing autosomal dominant Kenny-Caffey syndrome An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones. tmpaxzxjjyw_mondo_relaxed.owl dwarfism, cortical thickening of tubular bones and transient hypocalcemia|Kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia|Kenny-Caffey syndrome, autosomal dominant|Kenny-Caffey syndrome, type 2|Kenny-Caffey syndrome type 2|KCS2 NCIT:C130993|OMIM:127000|Orphanet:2333|UMLS:CN031291|Orphanet:93325|ICD10:Q87.1|UMLS:C0265291|GARD:0000083 https://rarediseases.info.nih.gov/diseases/83/kenny-caffey-syndrome-type-2 owl:Class OBO:CHR_9606-chr7q1 biolink:NamedThing 7q1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 77900000 60100000 hg38 owl:Class MONDO:0000229 biolink:NamedThing Indian tick typhus An infectious disease caused by infection with rickettsia conorii subsp. coronorii. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050042|Orphanet:101335 owl:Class NCBITaxon:34632 biolink:NamedThing Rhipicephalus sanguineus tmpaxzxjjyw_mondo_relaxed.owl Ixodes sanguineus|brown dog tick GC_ID:1 NCBITaxon:2138176|NCBITaxon:59657 ncbi_taxonomy owl:Class UBERON:0006239 biolink:NamedThing future central tendon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007813 biolink:NamedThing superficial epidermolytic ichthyosis Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth. tmpaxzxjjyw_mondo_relaxed.owl ichthyosis bullosa of Siemens|IBS|ichthyosis, bullous type|SEI|bullous type ichthyosis|ichthyosis exfoliativa|bullous type of ichthyosis|superficial epidermolytic ichthyosis Orphanet:455|GARD:0002966|DOID:0060877|OMIM:146800|SCTID:254169002|UMLS:C0432306|UMLS:C1838440|NCIT:C84777|MESH:D053560|ICD10:Q80.8 https://rarediseases.info.nih.gov/diseases/2966/ichthyosis-bullosa-of-siemens owl:Class HGNC:6439 biolink:NamedThing KRT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013791 biolink:NamedThing thrombophilia due to protein S deficiency, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl thrombophilia due to protein S deficiency, autosomal recessive|thrombophilia due to PROTEIN S deficiency, autosomal recessive|THPH6 Orphanet:743|UMLS:C3281092|OMIM:614514 owl:Class HP:0030348 biolink:NamedThing Increased circulating androgen concentration An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. tmpaxzxjjyw_mondo_relaxed.owl Increased circulating androgen level UMLS:C4072893 human_phenotype owl:Class HGNC:17797 biolink:NamedThing MAP3K20 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006378 biolink:NamedThing pleural epithelioid mesothelioma Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns. tmpaxzxjjyw_mondo_relaxed.owl malignant epithelioid mesothelioma of pleura|pleura malignant epithelioid mesothelioma|pleural epithelioid mesothelioma UMLS:C1709574|EFO:1000484|NCIT:C45662 owl:Class MONDO:0008146 biolink:NamedThing osteogenesis imperfecta type 1 Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. tmpaxzxjjyw_mondo_relaxed.owl Adair-Dighton syndrome|Van der Hoeve syndrome|mild osteogenesis imperfecta|OI, type 1|osteogenesis imperfecta with blue sclerae|osteogenesis imperfecta type I|osteogenesis imperfecta, type I|osteogenesis imperfecta tarda|osteogenesis imperfecta, type 1|non-deforming osteogenesis imperfecta|OI1|classic non-deforming OI with blue sclerae|osteogenesis imperfecta type 1|OI type 1 DOID:0110334|UMLS:CN201103|ICD10:Q78.0|GARD:0008694|SCTID:385482004|OMIM:166200|Orphanet:216796|OMIM:166230|UMLS:CN536249|NCIT:C99003 Editor note: we follow ordo and place van der hoeve as exact synonym owl:Class HGNC:2197 biolink:NamedThing COL1A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007618 biolink:NamedThing Eng-Strom syndrome Eng-Strom syndrome is characterised by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl finger locking, recurrent, with intrauterine growth retardation and proportionate short stature|short stature-locking fingers syndrome UMLS:C2931545|ICD10:Q87.1|OMIM:135950|Orphanet:1937 owl:Class MONDO:0007091 biolink:NamedThing amelia and terminal transverse hemimelia tmpaxzxjjyw_mondo_relaxed.owl amelia and terminal transverse hemimelia OMIM:104400|MESH:C566294|UMLS:C1863014 owl:Class HP:0009827 biolink:NamedThing Amelia Congenital absence (aplasia) of one or more limbs. tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10001926|MSH:D004480|SNOMEDCT_US:62588002|UMLS:C0002447 doelkens 2009-02-23T05:17:25Z human_phenotype owl:Class GO:0032218 biolink:NamedThing riboflavin transport The directed movement of riboflavin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001199 biolink:NamedThing terrestrial environmental zone An environmental zone which is bounded by material parts of a land mass or the atmosphere or space adjacent to it. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013117 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene. tmpaxzxjjyw_mondo_relaxed.owl PEOA5|RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5|progressive external ophthalmoplegia, autosomal dominant 5|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5 Orphanet:254892|DOID:0111518|MESH:C567768|UMLS:C2751319|OMIM:613077 owl:Class HGNC:17296 biolink:NamedThing RRM2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007704 biolink:NamedThing osteoarthritis susceptibility 2 tmpaxzxjjyw_mondo_relaxed.owl osteoarthritis of distal interphalangeal joints|hand osteoarthritis|Dipoa|OS2|OADIP|MATN3 osteoarthritis|osteoarthritis caused by mutation in MATN3|Heberden nodes|osteoarthritis susceptibility type 2|osteoarthritis susceptibility 2 OMIM:140600 owl:Class MONDO:0024528 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene. tmpaxzxjjyw_mondo_relaxed.owl POLG autosomal dominant progressive external ophthalmoplegia|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1|progressive external ophthalmoplegia, autosomal dominant 1|PEOA1|autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG Orphanet:254892|OMIM:157640|UMLS:C1834846|DOID:0111521 owl:Class GO:0019901 biolink:NamedThing protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3823 biolink:NamedThing FOXP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043539 biolink:NamedThing protein serine/threonine kinase activator activity Binds to and increases the activity of a protein serine/threonine kinase. tmpaxzxjjyw_mondo_relaxed.owl protein ser/thr kinase activator activity owl:Class GO:0071902 biolink:NamedThing positive regulation of protein serine/threonine kinase activity Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002967 biolink:NamedThing dermatophytosis of scalp or beard Dermatophytosis involving the stratum corneum of the skin of the scalp and beard area. tmpaxzxjjyw_mondo_relaxed.owl tinea capitis due to Trichophyton rubrum|scalp dermatophytosis|tinea capitis|Trichophyton rubrum tinea capitis|scalp ringworm|dermatophytosis of scalp|dermatophytosis of scalp and beard DOID:4337|SCTID:266148000|NCIT:C34536|UMLS:C1274426|UMLS:C0011640|ICD9:110.0 owl:Class GO:0035239 biolink:NamedThing tube morphogenesis The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012552 biolink:NamedThing multiple endocrine neoplasia type 4 Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors. tmpaxzxjjyw_mondo_relaxed.owl MEN4|multiple endocrine neoplasia caused by mutation in CDKN1B|multiple endocrine neoplasia type 4|multiple endocrine neoplasia, type 4|multiple endocrine neoplasia, type IV|CDKN1B multiple endocrine neoplasia DOID:0080137|NCIT:C157449|MESH:C567059|ICD10:D44.8|Orphanet:276152|UMLS:C1970712|SCTID:715907003|OMIM:610755|UMLS:C4274947 owl:Class HGNC:1785 biolink:NamedThing CDKN1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007282 biolink:NamedThing presumptive segmental plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009618 biolink:NamedThing trunk paraxial mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class PO:0025233 biolink:NamedThing portion of embryo plant tissue A portion of plant tissue (PO:0009007) that is part of a plant embryo (PO:0009009). tmpaxzxjjyw_mondo_relaxed.owl tejido embriónico vegetal (Spanish, exact)|portion of embryonic plant tissue (exact)|植物胚性組織 の一部 (Japanese, exact)|portion of embryo tissue (broad) PO_GIT:338 This class is for tissues that only occur as part of an embryo. rwalls 2010-12-20T12:27:10Z plant_anatomy owl:Class GO:0008480 biolink:NamedThing sarcosine dehydrogenase activity Catalysis of the reaction: sarcosine + H2O + electron-transfer flavoprotein = glycine + formaldehyde + reduced electron-transfer flavoprotein. tmpaxzxjjyw_mondo_relaxed.owl sarcosine:(acceptor) oxidoreductase (demethylating)|sarcosine N-demethylase activity|sarcosine:acceptor oxidoreductase (demethylating)|monomethylglycine dehydrogenase activity owl:Class MONDO:0012014 biolink:NamedThing Charcot-Marie-Tooth disease recessive intermediate A Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy recessive intermediate A|RI-CMT type A|Charcot-Marie-Tooth disease, recessive intermediate A|Ri-Cmta|Charcot-Marie-Tooth disease, recessive Intermediate type a|Charcot-Marie-Tooth disease recessive intermediate type A|RI-CMTA|autosomal recessive intermediate Charcot-Marie-Tooth disease type A|Charcot-Marie-Tooth disease, recessive intermediate, A|Charcot-Marie-Tooth neuropathy, recessive Intermediate a|GDAP1 Charcot-Marie-Tooth disease|CMTRIA|Charcot-Marie-Tooth disease caused by mutation in GDAP1 GARD:0012453|MESH:C564256|DOID:0110201|Orphanet:217055|UMLS:C1842197|ICD10:G60.0|OMIM:608340 owl:Class HGNC:15968 biolink:NamedThing GDAP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013373 biolink:NamedThing dilated cardiomyopathy 1V Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PSEN2 gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, type 1V|CMD1V|familial isolated dilated cardiomyopathy caused by mutation in PSEN2|dilated cardiomyopathy type 1V|cardiomyopathy, dilated, 1V|PSEN2 familial isolated dilated cardiomyopathy UMLS:C3150958|ICD10:I42.0|DOID:0110427|MESH:C566856|OMIM:613697 owl:Class HGNC:9509 biolink:NamedThing PSEN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001052 biolink:NamedThing chronic fungal otitis externa Chronic form of otomycosis. tmpaxzxjjyw_mondo_relaxed.owl otomycosis, chronic|chronic otomycosis|chronic mycotic otitis externa ICD9:380.15|DOID:10519|SCTID:111898002|UMLS:C0155396 owl:Class MONDO:0000313 biolink:NamedThing hypophosphatemia Lower than normal levels of phosphates in the circulating blood. tmpaxzxjjyw_mondo_relaxed.owl hypophosphatemia|hypophosphatemia (disease) hypophosphatemia (disease) NCIT:C37977|HP:0002148|MESH:D017674|SCTID:4996001|DOID:0050336|UMLS:C0085682 owl:Class UBERON:0002347 biolink:NamedThing thoracic vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009215 biolink:NamedThing Fanconi anemia complementation group A Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway. tmpaxzxjjyw_mondo_relaxed.owl Fanconi Anemia, Estren-Dameshek variant|Fanconi anemia complementation group A|Fanconi anemia caused by mutation in FANCA|FANCA|Fanconi anemia complementation group type A|Fanconi Anemia, complementation group type a|Estren-Dameshek variant of Fanconi pancytopenia|Estren-Dameshek variant of Fanconi Anemia|Fanconi Anemia|FANCA Fanconi anemia|Fanconi anemia, complementation group A EFO:0009044|GTR:AN1051558|OMIM:227650|DOID:0111095|UMLS:CN653908|Orphanet:84|NCIT:C125702 owl:Class ENVO:01001122 biolink:NamedThing gas planet A planet which is primarily composed of hydrogen and helium. tmpaxzxjjyw_mondo_relaxed.owl owl:Class Naf3789a43b154f1eaf5adb0baff37ecc biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018487 biolink:NamedThing autosomal recessive severe congenital neutropenia due to CXCR2 deficiency tmpaxzxjjyw_mondo_relaxed.owl ICD10:D70|Orphanet:420699 owl:Class HP:0001423 biolink:NamedThing X-linked dominant inheritance A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. tmpaxzxjjyw_mondo_relaxed.owl X-linked dominant UMLS:C1847879 human_phenotype owl:Class MONDO:0012273 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 48 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene. tmpaxzxjjyw_mondo_relaxed.owl DFNB48|autosomal recessive nonsyndromic deafness type 48|autosomal recessive deafness 48|CIB2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 48|deafness, autosomal recessive 48|autosomal recessive nonsyndromic deafness caused by mutation in CIB2|deafness, autosomal recessive type 48 ICD10:H90.3|MESH:C563720|UMLS:C1836199|DOID:0110505|OMIM:609439 owl:Class HGNC:24579 biolink:NamedThing CIB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14974 biolink:NamedThing SNX10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013477 biolink:NamedThing hypertrophic cardiomyopathy 20 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic cardiomyopathy caused by mutation in NEXN|cardiomyopathy, familial hypertrophic, 20|cardiomyopathy, familial hypertrophic, type 20|CMH20|hypertrophic cardiomyopathy type 20|NEXN hypertrophic cardiomyopathy|cardiomyopathy familial hypertrophic 20 OMIM:613876|UMLS:C3151267|DOID:0110326 owl:Class HGNC:29557 biolink:NamedThing NEXN tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3959 biolink:NamedThing FRZB tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012416 biolink:NamedThing respiratory system arterial smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013411 biolink:NamedThing cataract 16 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene. tmpaxzxjjyw_mondo_relaxed.owl cataract, congenital lamellar|cataract 16, multiple types|CTPP2|CRYAB early-onset non-syndromic cataract|posterior polar cataract 2|early-onset non-syndromic cataract caused by mutation in CRYAB|cataract, posterior polar, 2|CTRCT16 Orphanet:98995|ICD10:Q12.0|OMIM:613763|Orphanet:98993|DOID:0110250|MESH:C565134|Orphanet:91492 owl:Class MONDO:0020729 biolink:NamedThing autosomal recessive agammaglobulinemia 1 tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive agammaglobulinemia 1|agammaglobulinemia, autosomal recessive, due to IGHM defect|agammaglobulinemia 1, autosomal recessive|AGM1 OMIM:601495|Orphanet:229717|Orphanet:33110 owl:Class HGNC:5541 biolink:NamedThing IGHM tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr13q34 biolink:NamedThing 13q34 (Human) tmpaxzxjjyw_mondo_relaxed.owl 114364328 109600000 hg38 owl:Class NCBITaxon:45219 biolink:NamedThing Guanarito mammarenavirus tmpaxzxjjyw_mondo_relaxed.owl Guanarito virus|Guanarito arenavirus|GTOV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032833 biolink:NamedThing lower urinary tract obstruction, congenital tmpaxzxjjyw_mondo_relaxed.owl LOWER URINARY TRACT OBSTRUCTION, CONGENITAL|LUTO OMIM:618612 owl:Class GO:0002181 biolink:NamedThing cytoplasmic translation The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004692 biolink:NamedThing external naris epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007646 biolink:NamedThing endomeninx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035820 biolink:NamedThing peritoneal sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class NBO:0002603 biolink:NamedThing regulation of sexual activity "Any process that modulates the frequency, rate or extent of sexual activity, the specific actions or reactions of an organism in response to external or internal stimuli." [NBOC:GVG] tmpaxzxjjyw_mondo_relaxed.owl owl:Class NBO:0000034 biolink:NamedThing sexual activity "Behaviour related to the activity which primary purpose is the sexual reproduction." [NBO:GVG] tmpaxzxjjyw_mondo_relaxed.owl sexual actions owl:Class HGNC:17075 biolink:NamedThing TAB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060090 biolink:NamedThing molecular adaptor activity The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. tmpaxzxjjyw_mondo_relaxed.owl protein-containing complex scaffold activity|protein complex scaffold activity|binding, bridging owl:Class HGNC:30605 biolink:NamedThing SEPSECS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008748 biolink:NamedThing Hermansky-Pudlak syndrome 1 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS1 gene. tmpaxzxjjyw_mondo_relaxed.owl HPS1 Hermansky-Pudlak syndrome|HPS1|Hermansky-Pudlak syndrome caused by mutation in HPS1|Hermansky-Pudlak syndrome 1|Hermansky-Pudlak syndrome type 1|Delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells MESH:C538539|Orphanet:79430|OMIM:203300|Orphanet:231500|DOID:0060539|NCIT:C150367|UMLS:C2931875 owl:Class HGNC:5163 biolink:NamedThing HPS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004946 biolink:NamedThing submucosa of ileum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010521 biolink:NamedThing amelogenesis imperfecta type 1E Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene. tmpaxzxjjyw_mondo_relaxed.owl amelogenesis imperfecta type IE|amelogenesis imperfecta caused by mutation in AMELX|X-linked amelogenesis imperfecta 1|amelogenesis imperfecta hypomaturationtype with snow-capped teeth|amelogenesis imperfecta X-linked 1|amelogenesis imperfecta, X-linked 1|AI1E|AMELX amelogenesis imperfecta|amelogenesis imperfecta, type 1E|amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1|X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1|AIH1|amelogenesis imperfecta, type IE|enamel hypoplasia, X-linked|amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth|enamel hypoplasia X-linked|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1|X-linked enamel hypoplasia GARD:0009943|Orphanet:100033|OMIM:301200|DOID:0110058|ICD10:K00.5 Editor note: https://rarediseases.info.nih.gov/diseases/9943/amelogenesis-imperfecta-hypoplastichypomaturation-x-linked-1 owl:Class HGNC:461 biolink:NamedThing AMELX tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017158 biolink:NamedThing pulmonary hypertension with unclear multifactorial mechanism tmpaxzxjjyw_mondo_relaxed.owl PH with unclear multifactorial mechanism 2022-03-01 Orphanet:275844 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class GO:0002339 biolink:NamedThing B cell selection The process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival. tmpaxzxjjyw_mondo_relaxed.owl B-cell selection|B-lymphocyte selection|B lymphocyte selection owl:Class MONDO:0013900 biolink:NamedThing alternating hemiplegia of childhood 2 Any alternating hemiplegia of childhood in which the cause of the disease is a mutation in the ATP1A3 gene. tmpaxzxjjyw_mondo_relaxed.owl ATP1A3 alternating hemiplegia of childhood|alternating hemiplegia of childhood caused by mutation in ATP1A3|AHC2|alternating hemiplegia of childhood 2|alternating hemiplegia of childhood type 2 OMIM:614820|UMLS:C3553788|Orphanet:2131 owl:Class GO:0015103 biolink:NamedThing inorganic anion transmembrane transporter activity Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009441 biolink:NamedThing autosomal recessive congenital ichthyosis 1 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the TGM1 gene. tmpaxzxjjyw_mondo_relaxed.owl ichthyosis, congenital, autosomal recessive 1|ichthyosis, lamellar, 1|autosomal recessive congenital ichthyosis type 1|ichthyosis, lamellar, 1, formerly|ichthyosis congenita|ARCI1|lamellar ichthyosis, type 1|ichthyosis lamellar 1|ichthyosis, congenital, autosomal recessive 1, with bathing suit distribution|ichthyosis, congenital, autosomal recessive type 1|collodion baby, self-healing|bathing suit ichthyosis|desquamation of newborn|collodion fetus|autosomal recessive congenital ichthyosis 1|LI1|ichthyosis congenita 2|lamellar exfoliation of newborn OMIM:242300|Orphanet:100976|GARD:0003170|DOID:0060656|Orphanet:313|ICD10:Q80.2|MESH:D017490|UMLS:C3536797|Orphanet:281122 https://rarediseases.info.nih.gov/diseases/3170/ichthyosis-lamellar-1 owl:Class HGNC:11777 biolink:NamedThing TGM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5246 biolink:NamedThing HSPB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016791 biolink:NamedThing phosphatase activity Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. tmpaxzxjjyw_mondo_relaxed.owl NPPase activity|nitrophenyl phosphatase activity|phosphatase|para-nitrophenyl phosphatase activity|4-nitrophenylphosphatase activity|4-nitrophenylphosphate phosphohydrolase activity|ecto-p-nitrophenyl phosphatase activity|phosphoric monoester hydrolase activity|PNPPase activity|p-nitrophenylphosphate phosphohydrolase activity|p-nitrophenylphosphatase activity|K-pNPPase activity owl:Class HGNC:11194 biolink:NamedThing SOX18 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010611 biolink:NamedThing X-linked hydrocephalus with stenosis of the aqueduct of Sylvius A form of L1 syndrome caused by changes in the L1CAM gene characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl HSAS|hydrocephalus with stenosis of the aqueduct of Sylvius|X-linked hydrocephalus with stenosis of aqueduct of Sylvius|HSAS1|hydrocephalus, X-linked|X-linked hydrocephalus with stenosis of the aqueduct of Sylvius|X-linked HSAS|XLAS|hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction|HYCX|Bickers-Adams syndrome|X-linked hydrocephalus|aqueductal stenosis, X-linked|X-linked acqueductal stenosis|hydrocephalus due to congenital stenosis of aqueduct of Sylvius Orphanet:2182|SCTID:71779008|ICD10:Q03.0|MESH:C536078|GARD:0000434|OMIM:307000|Orphanet:275543 owl:Class HP:0002410 biolink:NamedThing Aqueductal stenosis Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. tmpaxzxjjyw_mondo_relaxed.owl Aqueduct stenosis|Narrowing of aqueduct of Sylvius|Aqueduct of Sylvius stenosis MSH:D006849|UMLS:C2936786 human_phenotype owl:Class HGNC:15516 biolink:NamedThing XYLT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012856 biolink:NamedThing Birk-Barel syndrome Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing). tmpaxzxjjyw_mondo_relaxed.owl Birk Barel intellectual disability dysmorphism syndrome|intellectual disability with hypotonia and Facial Dysmorphism|mental retardation with hypotonia and Facial Dysmorphism|BIRK-Barel intellectual disability dysmorphism syndrome|BIRK-Barel mental retardation dysmorphism syndrome|Birk Barel mental retardation dysmorphism syndrome|Birk-Barel syndrome|intellectual disability-hypotonia-facial dysmorphism syndrome|intellectual disability, Birk-Barel type GARD:0010358|UMLS:C2676770|OMIM:612292|SCTID:764861005|MESH:C567357|Orphanet:166108|ICD10:Q87.8|DOID:0050675 https://rarediseases.info.nih.gov/diseases/10358/birk-barel-syndrome owl:Class MONDO:0014256 biolink:NamedThing retinitis pigmentosa 67 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 67|RP67|retinitis pigmentosa 67|retinitis pigmentosa caused by mutation in NEK2|NEK2 retinitis pigmentosa OMIM:615565|UMLS:C3809954|DOID:0110359|ICD10:H35.5 owl:Class HGNC:7745 biolink:NamedThing NEK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:63551 biolink:NamedThing carbohydrate acid derivative anion A carboxylic acid anion resulting from the deprotonation of the carboxy group of a carbohydrate acid derivative. tmpaxzxjjyw_mondo_relaxed.owl carbohydrate acid anion derivatives|carbohydrate acid derivative anions|carbohydrate acid anion derivative owl:Class CHEBI:63436 biolink:NamedThing carbohydrate acid derivative A carbohydrate derivative that is formally obtained from a carbohydrate acid. tmpaxzxjjyw_mondo_relaxed.owl carbohydrate acid derivatives owl:Class MONDO:0012085 biolink:NamedThing primary ciliary dyskinesia 3 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAH5 gene. tmpaxzxjjyw_mondo_relaxed.owl DNAH5 primary ciliary dyskinesia|CILD3|ciliary dyskinesia, primary, 3, with or without situs inversus|primary ciliary dyskinesia 3 with or without situs inversus|primary ciliary dyskinesia type 3|primary ciliary dyskinesia caused by mutation in DNAH5|primary ciliary dyskinesia 3|ciliary dyskinesia, primary, type 3|ciliary dyskinesia, primary, 3 UMLS:C1837618|MESH:C535278|ICD10:Q34.8|DOID:0110599|OMIM:608644 owl:Class MONDO:0016093 biolink:NamedThing borderline epithelial tumor of ovary A low grade epithelial tumor arising from the ovary. It is characterized by an atypical proliferation of epithelial cells. There is no evidence of stromal invasion. tmpaxzxjjyw_mondo_relaxed.owl epithelial ovarian tumor of borderline malignancy|borderline epithelial neoplasm of the ovary|borderline epithelial tumor of ovary|low malignant potential ovarian tumor|ovarian borderline malignant tumor|borderline ovarian epithelial tumor|borderline ovarian epithelial neoplasm|epithelial ovarian neoplasm of borderline malignancy|epithelial tumor of the ovary of borderline malignancy|ovarian low malignant potential tumor|borderline epithelial neoplasm of ovary|epithelial neoplasm of the ovary of borderline malignancy|ovarian tum. of low malig. poten.|borderline ovarian surface epithelial-stromal tumor|borderline epithelial tumor of the ovary|ovarian tumors of low malignant potential|ovarian tumor of low malignant potential|epithelial neoplasm of ovary of borderline malignancy|epithelial tumor of ovary of borderline malignancy UMLS:C3665489|EFO:1000140|GARD:0009363|ICD10:C56|SCTID:764791008|Orphanet:206473|NCIT:C4783 owl:Class UBERON:0010580 biolink:NamedThing pedal digit 1 phalanx pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:552467 biolink:NamedThing Cryptococcus gattii VGIII tmpaxzxjjyw_mondo_relaxed.owl Cryptococcus bacillisporus VGIII|Filobasidiella bacillispora|Cryptococcus bacillisporus|Filobasidiella neoformans var. bacillispora GC_ID:1 NCBITaxon:1450542 ncbi_taxonomy owl:Class MONDO:0002653 biolink:NamedThing Paget disease of the penis A premalignant condition morphologically characterised by the presence of the characteristic Paget cells in the intraepithelial tissue of the penis. It presents as a smooth raised reddish area that may or may not be painful. -- 2003 tmpaxzxjjyw_mondo_relaxed.owl penile adenocarcinoma|Paget's disease of the penis|penis Paget's disease|penis mammary Paget's disease|Paget disease of the penis|Paget's disease of penis|penis Paget disease DOID:3448|SCTID:398768004|UMLS:C0221286|NCIT:C27817 owl:Class MONDO:0003574 biolink:NamedThing external ear cancer A malignant neoplasm involving the external ear. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of external Ear|external ear cancer|malignant tumor of the external Ear|malignant external Ear neoplasm|malignant neoplasm of the external ear|malignant neoplasm of external Ear|malignant external Ear tumor|malignant neoplasm of external ear|malignant neoplasm of the external Ear|malignant external ear neoplasm|cancer of external ear NCIT:C4653|SCTID:277156006|UMLS:C0349576|DOID:5665 owl:Class MONDO:0014075 biolink:NamedThing cataract 39 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYGB gene. tmpaxzxjjyw_mondo_relaxed.owl CRYGB early-onset non-syndromic cataract|autosomal dominant cataract 39 multiple types|CTRCT39|cataract 39, multiple types|early-onset non-syndromic cataract caused by mutation in CRYGB ICD10:Q12.0|Orphanet:98988|Orphanet:98994|UMLS:C3808800|OMIM:615188|DOID:0110236|Orphanet:98995|Orphanet:91492 owl:Class HGNC:2409 biolink:NamedThing CRYGB tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBI:0000659 biolink:NamedThing specimen collection process A planned process with the objective of collecting a specimen. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6441 biolink:NamedThing KRT4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:59560 biolink:NamedThing sapropterin A tetrahydropterin that is 2-amino-5,6,7,8-tetrahydropteridin-4(3H)-one in which a hydrogen at position 6 is substituted by a 1,2-dihydroxypropyl group (6R,1'R,2'S-enantiomer). tmpaxzxjjyw_mondo_relaxed.owl 5,6,7,8-Tetrahydrobiopterin|6R-BH4|sapropterina|sapropterinum|R-THBP|(-)-(6R)-2-amino-6-((1R,2S)-1,2-dihydroxypropyl)-5,6,7,8-tetrahydro-4(3H)-pteridinone|sapropterin|(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin|6R-L-5,6,7,8-tetrahydrobiopterin|tetrahydrobiopterin|(6R)-L-erythro-tetrahydrobiopterin|6R-5,6,7,8-tetrahydrobiopterin|2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone|(6R)-2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-5,6,7,8-tetrahydropteridin-4(3H)-one owl:Class CHEBI:33295 biolink:NamedThing diagnostic agent A substance administered to aid diagnosis of a disease. tmpaxzxjjyw_mondo_relaxed.owl diagnostic aid owl:Class HGNC:15520 biolink:NamedThing LPAR6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011208 biolink:NamedThing malignant atrophic papulosis Malignant atrophic papulosis (MAP) is a rare, chronic, thrombo-obliterative vasculopathy characterized by papular skin lesions with central porcelain-white atrophy and a surrounding teleangiectatic rim. Systemic lesions may affect the gastrointestinal tract and the central nervous system (CNS) and are potentially lethal. tmpaxzxjjyw_mondo_relaxed.owl atrophic papulosis, malignant|Kohlmeier-Degos-Delort-Tricort syndrome|Degos syndrome|Köhlmeier-Degos disease|Degos disease|Degos's malignant atrophic papulosis|Kohlmeier-Degos disease|Köhlmeier-Degos-Delort-Tricort syndrome|papulosis atrophican maligna|papulosis, malignant atrophic|malignant atrophic papulosis MedDRA:10064281|Orphanet:679|ICD9:447.8|NCIT:C84835|OMIM:602248|UMLS:C0221011|ICD10:I77.8|MESH:D054853|GARD:0006249|SCTID:400171002 owl:Class HP:0002354 biolink:NamedThing Memory impairment An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. tmpaxzxjjyw_mondo_relaxed.owl Memory loss|Memory problems|Memory impairment|Forgetfulness|Poor memory SNOMEDCT_US:55533009|SNOMEDCT_US:386807006|UMLS:C0233794|UMLS:C0542476|UMLS:C0751295|MSH:D008569 Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living. HP:0002081|HP:0000747 human_phenotype owl:Class GO:0070925 biolink:NamedThing organelle assembly The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013072 biolink:NamedThing Emery-Dreifuss muscular dystrophy 5, autosomal dominant Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene. tmpaxzxjjyw_mondo_relaxed.owl EDMD5|EMERY-Dreifuss muscular dystrophy 5, autosomal dominant|autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2|Emery-Dreifuss muscular dystrophy 5, autosomal dominant|SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy UMLS:C2751805|Orphanet:261|OMIM:612999|DOID:0070250|Orphanet:98853 owl:Class CL:1000272 biolink:NamedThing lung secretory cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013597 biolink:NamedThing platelet-type bleeding disorder 14 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene. tmpaxzxjjyw_mondo_relaxed.owl thromboxane synthase deficiency|TBXAS1 inherited bleeding disorder, platelet-type|bleeding disorder, platelet-type, 14|inherited bleeding disorder, platelet-type caused by mutation in TBXAS1|BDPLT14|thromboxane synthetase deficiency OMIM:614158|UMLS:C0398635|MESH:C562866|DOID:0111047|SCTID:234477002 owl:Class GO:0060097 biolink:NamedThing cytoskeletal rearrangement involved in phagocytosis, engulfment The assembly, arrangement, or disassembly of cytoskeletal structures that is involved in the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004467 biolink:NamedThing mature gastric teratoma A benign teratoma that arises from the stomach. tmpaxzxjjyw_mondo_relaxed.owl stomach mature teratoma|mature teratoma of the stomach|mature teratoma of stomach|mature gastric teratoma UMLS:C1334635|DOID:8118|NCIT:C5260 owl:Class UBERON:0036351 biolink:NamedThing wall of brachiocephalic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008289 biolink:NamedThing lipid binding Binding to a lipid. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004016 biolink:NamedThing dermatome tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004290 biolink:NamedThing dermomyotome tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100102 biolink:NamedThing fetal akinesia deformation sequence 2 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the RAPSN gene. tmpaxzxjjyw_mondo_relaxed.owl FADS2 OMIM:618388|DOID:0111378 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:9863 biolink:NamedThing RAPSN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014755 biolink:NamedThing skin creases, congenital symmetric circumferential, 2 tmpaxzxjjyw_mondo_relaxed.owl MAPRE2 multiple benign circumferential skin creases on limbs|multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2|skin creases, congenital symmetric circumferential, 2; CSCSC2|skin creases, congenital symmetric circumferential, type 2|skin creases, congenital symmetric circumferential, 2|CSCSC2 OMIM:616734 owl:Class MONDO:0014866 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2T A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. tmpaxzxjjyw_mondo_relaxed.owl CMT2T|Charcot-Marie-Tooth neuropathy type 2T|Charcot-Marie-Tooth neuropathy, type 2T|Charcot-Marie-Tooth disease, axonal, type 2T|autosomal recessive axonal Charcot-Marie-Tooth disease type 2T|DNAJB2-related CMT2|Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T|DNAJB2-related Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, axonal, type 2t|AR-CMT2T OMIM:617017|UMLS:C4015635|ICD10:G60.0|Orphanet:443950|DOID:0110160 owl:Class CL:2000072 biolink:NamedThing adipose microvascular endothelial cell Any microvascular endothelial cell that is part of a adipose tissue. tmpaxzxjjyw_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7200 TermGenie 2014-10-07T22:13:45Z cell owl:Class MONDO:0001485 biolink:NamedThing atypical depressive disorder A mood disorder that is characterized by mood reactivity (paradoxical anhedonia) and positivity, significant weight gain or increased appetite ("comfort eating"), excessive sleep or somnolence (hypersomnia), a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. tmpaxzxjjyw_mondo_relaxed.owl atypical depression SCTID:191659001|ICD9:296.82|DOID:12294|ICD10:F32.8 owl:Class HP:0001262 biolink:NamedThing Excessive daytime somnolence A state of abnormally strong desire for sleep during the daytime. tmpaxzxjjyw_mondo_relaxed.owl More than typical sleepiness during day|Excessive daytime sleepiness SNOMEDCT_US:79519003|UMLS:C2830004|SNOMEDCT_US:271782001 HP:0002189 human_phenotype owl:Class MONDO:0012067 biolink:NamedThing asthma-related traits, susceptibility to, 2 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the NPSR1 gene. tmpaxzxjjyw_mondo_relaxed.owl ASRT2|inherited susceptibility to asthma caused by mutation in NPSR1|asthma-related traits, susceptibility to, type 2|asthma-related traits, susceptibility to, 2|NPSR1 inherited susceptibility to asthma UMLS:C1837811|OMIM:608584 owl:Class HGNC:23631 biolink:NamedThing NPSR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002146 biolink:NamedThing pulmonary valve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005893 biolink:NamedThing leg bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001602 biolink:NamedThing labia minora carcinoma A carcinoma that arises from the labia minora. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the labia minora|labia minora carcinoma|labia minora cancer|carcinoma of labia minora|carcinoma of labium minora|labium minora carcinoma DOID:1293|NCIT:C9364|UMLS:C1334357 owl:Class UBERON:0004014 biolink:NamedThing labium minora tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002052 biolink:NamedThing adrenal gland capsule tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5017 biolink:NamedThing HMX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6357 biolink:NamedThing KLK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009502 biolink:NamedThing pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. tmpaxzxjjyw_mondo_relaxed.owl lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex|dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency|PDHDD|pyruvate dehydrogenase complex component E2 deficiency|pyruvate dehydrogenase E2 deficiency|dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency OMIM:245348|MESH:C565448|Orphanet:765|ICD10:E74.4|Orphanet:79244|UMLS:C1855565 owl:Class HGNC:2896 biolink:NamedThing DLAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009775 biolink:NamedThing Oguchi disease-1 Any Oguchi disease in which the cause of the disease is a mutation in the SAG gene. tmpaxzxjjyw_mondo_relaxed.owl congenital stationary night blindness Oguchi type 1|SAG Oguchi disease|Oguchi disease caused by mutation in SAG|CSNBO1|night blindness, congenital stationary, Oguchi type 1|Oguchi disease 1|Oguchi disease type 1 OMIM:258100|Orphanet:75382|DOID:0110712 owl:Class HGNC:10521 biolink:NamedThing SAG tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3147 biolink:NamedThing ECEL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016554 biolink:NamedThing white matter of midbrain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010878 biolink:NamedThing hereditary spastic paraplegia 6 Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. tmpaxzxjjyw_mondo_relaxed.owl SPG6|autosomal dominant spastic paraplegia 6|hereditary spastic paraplegia type 6|familial spastic paraplegia autosomal dominant 3|NIPA1 hereditary spastic paraplegia|hereditary spastic paraplegia caused by mutation in NIPA1|familial spastic paraplegia, autosomal dominant, 3|autosomal dominant spastic paraplegia type 6|autosomal dominant familial spastic paraplegia type 3|FSP3|spastic paraplegia 6|spastic paraplegia 6, autosomal dominant OMIM:600363|ICD10:G11.4|DOID:0110811|Orphanet:100988|MESH:C536866|SCTID:732949006|UMLS:C4518537|GARD:0004928|UMLS:C1838192 owl:Class MONDO:0000957 biolink:NamedThing lacrimal passage granuloma tmpaxzxjjyw_mondo_relaxed.owl granuloma of lacrimal passages DOID:10174|ICD10:H04.81|UMLS:C0155253|ICD9:375.81|SCTID:417563003 owl:Class MONDO:0006035 biolink:NamedThing gastric tubular adenocarcinoma A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules. tmpaxzxjjyw_mondo_relaxed.owl gastric tubular adenocarcinoma|stomach tubular adenocarcinoma|tubular adenocarcinoma of the stomach|tubular adenocarcinoma of stomach|tubular stomach adenocarcinoma UMLS:C1333791|ONCOTREE:TSTAD|DOID:6595|EFO:1000030|NCIT:C5473 owl:Class MONDO:0001920 biolink:NamedThing chronic purulent otitis media Otitis media that persists for at least six weeks, and that is associated with otorrhea through a perforated tympanic membrane. tmpaxzxjjyw_mondo_relaxed.owl CSOM|chronic suppurative otitis media|chronic suppurative otitis Media|suppurative otitis media, chronic UMLS:C0271454|SCTID:38394007|DOID:14247|NCIT:C128386|ICD9:382.3|ICD10:H66.3 owl:Class HGNC:1632 biolink:NamedThing CD164 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004749 biolink:NamedThing ribose phosphate diphosphokinase activity Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+). tmpaxzxjjyw_mondo_relaxed.owl PP-ribose P synthetase activity|phosphoribosyl diphosphate synthetase activity|phosphoribosyl pyrophosphate synthetase activity|PRPP synthetase activity|ribose-5-phosphate pyrophosphokinase activity|ribophosphate pyrophosphokinase activity|ribose-phosphate diphosphokinase activity|ribose-phosphate pyrophosphokinase activity|phosphoribosylpyrophosphate synthase activity|phosphoribosyl-diphosphate synthetase activity|5-phosphoribose pyrophosphorylase activity|5-phosphoribosyl-1-pyrophosphate synthetase activity|5-phosphoribosyl-alpha-1-pyrophosphate synthetase activity|ATP:D-ribose-5-phosphate diphosphotransferase activity|PPRibP synthetase activity|phosphoribosylpyrophosphate synthetase activity|pyrophosphoribosylphosphate synthetase activity owl:Class MONDO:0015826 biolink:NamedThing autosomal dominant spondylocostal dysostosis Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs. tmpaxzxjjyw_mondo_relaxed.owl spondylocostal dysostosis, autosomal dominant|autosomal dominant spondylocostal dysplasia ICD10:Q76.4|Orphanet:1797|UMLS:CN200437|UMLS:C4274761|OMIM:122600|SCTID:716232002 owl:Class MONDO:0021162 biolink:NamedThing carotenemia tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154271|DOID:9969|ICD10:E67.1|NCIT:C26963|ICD9:278.3 owl:Class GO:0016116 biolink:NamedThing carotenoid metabolic process The chemical reactions and pathways involving carotenoids, tetraterpenoid compounds in which two units of 4 isoprenoid residues joined head-to-tail are themselves joined tail-to-tail. tmpaxzxjjyw_mondo_relaxed.owl carotenoid metabolism owl:Class GO:0005102 biolink:NamedThing signaling receptor binding Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. tmpaxzxjjyw_mondo_relaxed.owl receptor binding|receptor-associated protein activity|receptor ligand owl:Class HGNC:23805 biolink:NamedThing ASXL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012926 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A2 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene. tmpaxzxjjyw_mondo_relaxed.owl amelogenesis imperfecta pigmented hypomaturation type 2|amelogenesis imperfecta, pigmented hypomaturation type, 2|MMP20 amelogenesis imperfecta|amelogenesis imperfecta, hypomaturation type, IIA2|amelogenesis imperfecta type IIA2|amelogenesis imperfecta caused by mutation in MMP20|AI2A2|amelogenesis imperfecta hypomaturation type IIA2 OMIM:612529|Orphanet:100033|UMLS:C2675858|DOID:0110060|MESH:C567279|ICD10:K00.5 owl:Class HGNC:7167 biolink:NamedThing MMP20 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010117 biolink:NamedThing 3M syndrome 1 Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene. tmpaxzxjjyw_mondo_relaxed.owl gloomy face syndrome|three M syndrome 1|Dolichospondylic dysplasia|CUL7 3-M syndrome|Yakut short stature syndrome|Cul7 3-M syndrome|3M1|3M syndrome|Le Merrer syndrome|three M syndrome type 1|3-M syndrome caused by mutation in CUL7|3-M syndrome caused by mutation in Cul7 OMIM:273750|Orphanet:2616 owl:Class HGNC:21024 biolink:NamedThing CUL7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060662 biolink:NamedThing Diamond-Blackfan anemia-like tmpaxzxjjyw_mondo_relaxed.owl Diamond-Blackfan anemia-like|DBAL OMIM:617911|UMLS:CN873436 owl:Class UBERON:0005322 biolink:NamedThing mesonephric nephron tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009301 biolink:NamedThing 46,XY sex reversal 7 tmpaxzxjjyw_mondo_relaxed.owl 46,XY SEX reversal 7|46,XY Sex reversal type 7|46,XY sex reversal 7|gonadal dysgenesis, XY, Male-limited|SRXY7|46,XY Sex reversal, partial or complete, Dhh-related|46,XY gonadal dysgenesis, partial or complete, Dhh-related DOID:0111774|MESH:C565537|OMIM:233420|Orphanet:242 owl:Class HP:0010864 biolink:NamedThing Intellectual disability, severe Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. tmpaxzxjjyw_mondo_relaxed.owl Intellectual disability, severe|Severe mental retardation|Early and severe mental retardation|Mental retardation, severe SNOMEDCT_US:40700009|UMLS:C0036857 Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision. peter 2010-08-03T06:29:35Z HP:0007196 human_phenotype owl:Class MONDO:0008759 biolink:NamedThing oxoglutaricaciduria Oxoglutaric aciduria is a very rare tricarboxylic acid cycle disorder, resulting from a deficiency in alpha-ketoglutarate dehydrogenase (one of the three subunits of the alpha-ketoglutarate dehydrogenase complex), that most often presents in the neonatal period with hypotonia, severe encephalopathy, extrapyramidal signs, pyramidal tract dysfunction and seizures and that frequently results in death in early childhood. Metabolic acidosis, elevated lactate and glutamate levels and variable degrees of glutaric aciduria are noted. Sudden death, myocardiopathy, and hepatic disorders have also been reported in some cases. tmpaxzxjjyw_mondo_relaxed.owl Oxoglutaric aciduria|Alpha-ketoglutarate dehydrogenase deficiency|Alpha-Kgd deficiency|ALPHA-ketoglutarate dehydrogenase deficiency|2 alpha ketoglutarate dehydrogenase deficiency|2-ketoglutarate dehydrogenase deficiency|Alpha KGD deficiency GARD:0000617|OMIM:203740|ICD10:E88.8|MESH:C536582|Orphanet:31|UMLS:C2752074|SCTID:733630004 owl:Class HGNC:8124 biolink:NamedThing OGDH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005810 biolink:NamedThing infectious mononucleosis A condition characterized by an increase in mononuclear white blood cells and swollen lymph nodes, which is usually caused by infection with the Epstein-Barr virus. tmpaxzxjjyw_mondo_relaxed.owl Mono|Gammaherpesviral mononucleosis|Pfeiffer's disease|mononucleosis|glandular fever|Filatov's disease|monocytic angina ICD10:B27.0|DOID:8568|ICD10:B27.9|EFO:0007326|NCIT:C34726|MESH:D007244|UMLS:C0021345|ICD9:075|ICD10:B27|SCTID:186668002 owl:Class NCBITaxon:10376 biolink:NamedThing Human gammaherpesvirus 4 tmpaxzxjjyw_mondo_relaxed.owl Epstein-Barr virus EBV|Human herpesvirus 4|Epstein Barr virus|Human herpesvirus type 4|HHV-4|Epstein-Barr virus|EPV GC_ID:1 NCBITaxon:47902 ncbi_taxonomy owl:Class ENVO:01000554 biolink:NamedThing hydrocarbon gas A gas that is primarily composed of hydrocarbon molecules. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:24632 biolink:NamedThing hydrocarbon A compound consisting of carbon and hydrogen only. tmpaxzxjjyw_mondo_relaxed.owl hydrocarbon|hidrocarburos|hidrocarburo|hydrocarbons|Kohlenwasserstoff|Kohlenwasserstoffe|hydrocarbure owl:Class MONDO:0017641 biolink:NamedThing miscellaneous movement disorder due to neurodegenerative disease tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:306695|UMLS:CN203537 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: movement disorder' MONDO_0005395 owl:Class CL:1000617 biolink:NamedThing kidney inner medulla cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001026 cell owl:Class CL:0000622 biolink:NamedThing acinar cell A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus). tmpaxzxjjyw_mondo_relaxed.owl acinous cell|acinic cell FMA:83625 cell owl:Class MONDO:0016862 biolink:NamedThing Alagille syndrome due to a JAG1 point mutation tmpaxzxjjyw_mondo_relaxed.owl syndromic bile duct paucity due to a JAG1 point mutation|arteriohepatic dysplasia due to a JAG1 point mutation|Alagille syndrome due to a JAG1 point mutation|cholestasis with peripheral pulmonary stenosis|Alagille-Watson syndrome due to a JAG1 point mutation|ALGS1|Alagille syndrome 1|Alagille-Watson syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|Alagille syndrome type 1 ICD10:Q44.7|UMLS:C1956125|OMIM:118450|Orphanet:261619|UMLS:CN202206 owl:Class GO:2000273 biolink:NamedThing positive regulation of signaling receptor activity Any process that activates or increases the frequency, rate or extent of signaling receptor activity. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of signalling receptor activity owl:Class HGNC:12420 biolink:NamedThing TUFM tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015445 biolink:NamedThing autosomal dominant coarctation of aorta Autosomal dominant form of aorta coarctation. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant aorta coarctation|aorta coarctation, autosomal dominant Orphanet:1455|ICD10:Q25.1 owl:Class UBERON:0006219 biolink:NamedThing deltoid pre-muscle mass tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005119 biolink:NamedThing anthrax infection An infection caused by Bacillus anthracis bacteria. It may affect the lungs, gastrointestinal tract, or skin. Patients with lung infection present with fever, headaches, cough, chest pain and shortness of breath. Patients with gastrointestinal infection present with nausea, vomiting and bloody diarrhea. Patients with skin infection develop blisters and ulcers. tmpaxzxjjyw_mondo_relaxed.owl Bacillus anthracis caused disease or disorder|anthrax disease|Bacillus anthracis infectious disease|anthrax|Bacillus anthracis disease or disorder MESH:D000881|ICD10:A22|DOID:7427|SCTID:409498004|EFO:0000778|ICD9:022.9|ICD9:022.8|GARD:0008157|UMLS:C0003175|ICD9:022|NCIT:C84565|ICD10:A22.9 Editor note: DOID says skin disease but we suppress this as it would be identical to subclass skin anthrax owl:Class MONDO:0003377 biolink:NamedThing extrahepatic bile duct leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from an extrahepatic bile duct. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of the extrahepatic bile duct|leiomyosarcoma of extrahepatic bile duct|leiomyosarcoma of bile duct|bile duct leiomyosarcoma|extrahepatic bile duct leiomyosarcoma|leiomyosarcoma of the bile duct NCIT:C5848|UMLS:C1333508|DOID:5293 owl:Class MONDO:0017698 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form tmpaxzxjjyw_mondo_relaxed.owl glycogen storage disease type IV, congenital neuromuscular form|glycogen storage disease type 4, congenital neuromuscular form|GSDIV, congenital neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form|glycogenosis type 4, congenital neuromuscular form|GSD type 4, congenital neuromuscular form|glycogenosis type IV, congenital neuromuscular form|GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form|GBE deficiency, congenital neuromuscular form Orphanet:308670|OMIM:232500|UMLS:C1856304|ICD10:E74.0 owl:Class OBO:CHR_9606-chr11 biolink:NamedThing chromosome 11 (Human) tmpaxzxjjyw_mondo_relaxed.owl 11 135086622 0 hg38 owl:Class MONDO:0018675 biolink:NamedThing IgG4-related ophthalmic disorder A IgG4-related disease that involves the eye. tmpaxzxjjyw_mondo_relaxed.owl eye IgG4-related disease|IgG4-related disease of eye UMLS:CN237741|Orphanet:449563|ICD10:H05.1 owl:Class MONDO:0012062 biolink:NamedThing dilated cardiomyopathy 1O Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene. tmpaxzxjjyw_mondo_relaxed.owl ABCC9 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1O|dilated cardiomyopathy type 1O|cardiomyopathy, dilated, with ventricular tachycardia|dilated cardiomyopathy with ventricular tachycardia|CMD1O|familial isolated dilated cardiomyopathy caused by mutation in ABCC9|cardiomyopathy, dilated, 1O DOID:0110451|OMIM:608569|UMLS:C1837839|MESH:C563906|ICD10:I42.0 owl:Class HGNC:60 biolink:NamedThing ABCC9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011833 biolink:NamedThing spinocerebellar ataxia type 21 Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia type 21|spinocerebellar ataxia 21|SCA21 UMLS:C4305144|SCTID:718774001|MESH:C537200|Orphanet:98773|DOID:0050972|GARD:0009999|UMLS:C1843891|ICD10:G11.1|OMIM:607454 owl:Class HGNC:25186 biolink:NamedThing TMEM240 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011403 biolink:NamedThing left ventricular noncompaction 1 Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene. tmpaxzxjjyw_mondo_relaxed.owl DTNA left ventricular noncompaction|left ventricular noncompaction caused by mutation in DTNA|LVNC1|left ventricular noncompaction 1|left ventricular noncompaction type 1|left ventricular noncompaction 1 with or without congenital heart defects Orphanet:54260|OMIM:604169|UMLS:C1858725 owl:Class HGNC:3057 biolink:NamedThing DTNA tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000173 biolink:NamedThing pancreatic D cell A D cell located in the pancreas. Peripherally placed within the islets like type A cells; contains somatostatin. tmpaxzxjjyw_mondo_relaxed.owl pancreatic delta cell|somatostatin-secreting pancreatic cell|delta cell of pancreatic islet|pancreatic D-cell|D-cell of pancreatic islet|delta cell of islet BTO:0000803|FMA:70587 cell owl:Class MONDO:0006598 biolink:NamedThing phototoxic dermatitis Dermatitis caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. tmpaxzxjjyw_mondo_relaxed.owl Photodermatitis|photosensitivity reaction|Photosensitisation reaction|photosensitiveness|photosensitive dermatitis EFO:1000753|DOID:4407|SCTID:53597009|Wikipedia:Photodermatitis|NCIT:C4816|MESH:D017484|UMLS:C0162830 owl:Class MONDO:0005995 biolink:NamedThing trichostrongylosis Infestation with nematode worms of the genus trichostrongylus. Humans become infected by swallowing larvae, usually with contaminated food or drink, although the larvae may penetrate human skin. tmpaxzxjjyw_mondo_relaxed.owl infection by Trichostrongylus species|Trichostrongylus infectious disease|Trichostrongyliasis|Trichostrongylus caused disease or disorder|infection by Trichostrongylus|Trichostrongylus disease or disorder DOID:1254|ICD10:B81.2|MESH:D014253|EFO:0007523|UMLS:C0040948|SCTID:33710003|ICD9:127.6 owl:Class NCBITaxon:6318 biolink:NamedThing Trichostrongylus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:18179 biolink:NamedThing VPS33A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014012 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2Q Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy type 2Q|Charcot-Marie-Tooth disease caused by mutation in DHTKD1|DHTKD1 Charcot-Marie-Tooth disease|autosomal dominant Charcot-Marie-Tooth disease type 2Q|autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q|Charcot-Marie-Tooth neuropathy, type 2Q|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q|Charcot-Marie-Tooth disease, axonal, type 2Q|Charcot-Marie-Tooth disease type 2Q|CMT2Q UMLS:C3554366|DOID:0110170|GARD:0012446|Orphanet:329258|ICD10:G60.0|OMIM:615025 owl:Class UBERON:0001970 biolink:NamedThing bile tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011739 biolink:NamedThing pancreatic cancer, susceptibility to, 1 Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene. tmpaxzxjjyw_mondo_relaxed.owl pancreatic cancer, susceptibility to, 1|susceptibility to pancreatic cancer 1|pancreatic cancer, susceptibility to, type 1|Pnca1|PALLD familial pancreatic carcinoma|familial pancreatic carcinoma caused by mutation in PALLD Orphanet:1333|OMIM:606856 owl:Class HGNC:17068 biolink:NamedThing PALLD tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:60924 biolink:NamedThing keratan sulfate A sulfated glycosaminoglycan, a linear polymer that consists of the repeating disaccharide [3)-beta-Gal-(1->4)-beta-GlcNAc-(1->] and containing sulfo groups located at random positions. tmpaxzxjjyw_mondo_relaxed.owl keratosulfate|keratan sulfates owl:Class MONDO:0016561 biolink:NamedThing 1q44 microdeletion syndrome 1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia. tmpaxzxjjyw_mondo_relaxed.owl Del(1)(q44)|chromosome 1q44 microdeletion syndrome|monosomy 1q44 UMLS:CN201644|GARD:0010943|UMLS:C4304540|ICD10:Q93.5|Orphanet:238769|SCTID:719649004 https://rarediseases.info.nih.gov/diseases/10943/1q44-microdeletion-syndrome owl:Class HGNC:2972 biolink:NamedThing DNM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000143 biolink:NamedThing 49-year-old human stage Middle aged stage that refers to an adult who is over 49 and under 50. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014430 biolink:NamedThing intellectual disability, autosomal recessive 45 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal recessive 45|MRT45|mental retardation, autosomal recessive type 45|mental retardation, autosomal recessive 45|autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31|FBXO31 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive type 45 UMLS:C4014864|OMIM:615979 owl:Class HGNC:16510 biolink:NamedThing FBXO31 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003997 biolink:NamedThing colon Kaposi sarcoma A Kaposi sarcoma arising from the colon. tmpaxzxjjyw_mondo_relaxed.owl colon Kaposis sarcoma|Kaposi's sarcoma (disease) of colon|colon Kaposi's sarcoma (disease)|colonic Kaposi sarcoma|colon Kaposi's sarcoma|colonic Kaposis sarcoma|Kaposi's sarcoma of colon|Kaposi's sarcoma of the colon|colonic Kaposi's sarcoma|colon Kaposi sarcoma UMLS:C1333091|DOID:6804|NCIT:C5516 owl:Class CL:0002087 biolink:NamedThing nongranular leukocyte A leukocyte that lacks granules. tmpaxzxjjyw_mondo_relaxed.owl agranular leukocyte FMA:62855 tmeehan 2010-07-22T11:30:33Z cell owl:Class NCBITaxon:1402491 biolink:NamedThing Pseudomonas aeruginosa CF5 tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0013394 biolink:NamedThing porencephaly-microcephaly-bilateral congenital cataract syndrome tmpaxzxjjyw_mondo_relaxed.owl HDBSCC|hemorrhagic destruction of the brain, subependymal calcification, and cataracts|porencephaly-microcephaly-bilateral congenital cataract syndrome Orphanet:306547|UMLS:C3151000|OMIM:613730 owl:Class HGNC:15532 biolink:NamedThing JAM3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013434 biolink:NamedThing primary ciliary dyskinesia 14 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene. tmpaxzxjjyw_mondo_relaxed.owl CILD14|CCDC39 primary ciliary dyskinesia|ciliary dyskinesia, primary, 14|ciliary dyskinesia, primary, type 14|primary ciliary dyskinesia 14|primary ciliary dyskinesia type 14|ciliary dyskinesia, primary, 14, with or without situs inversus|primary ciliary dyskinesia 14 with or without situs inversus|primary ciliary dyskinesia caused by mutation in CCDC39 DOID:0110598|UMLS:C3151136|Orphanet:244|ICD10:Q34.8|OMIM:613807 owl:Class HGNC:25244 biolink:NamedThing CCDC39 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002009 biolink:NamedThing macrophage dendritic cell progenitor A progenitor cell that can give rise to plasmacytoid and myeloid dendritic cells, and to monocytes and macrophages. tmpaxzxjjyw_mondo_relaxed.owl MDP tmeehan 2010-01-19T02:51:58Z cell owl:Class HGNC:11947 biolink:NamedThing TNNI3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012848 biolink:NamedThing Meckel syndrome, type 6 Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene. tmpaxzxjjyw_mondo_relaxed.owl Meckel-Gruber syndrome, type 6|MKS6|CC2D2A Meckel syndrome|Meckel syndrome 6|Meckel syndrome, type 6|Meckel syndrome caused by mutation in CC2D2A DOID:0070120|UMLS:C2676790|MESH:C567365|Orphanet:564|ICD10:Q61.9|OMIM:612284 owl:Class HGNC:16391 biolink:NamedThing CARD9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:26022 biolink:NamedThing TRMT10C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004828 biolink:NamedThing lower urinary tract calculus A urolithiasis that involves the lower urinary tract. tmpaxzxjjyw_mondo_relaxed.owl lower urinary tract urolithiasis|urolithiasis of lower urinary tract ICD10:N21|ICD10:N21.9|ICD9:594|UMLS:C0156264|DOID:9590|ICD9:594.8|ICD9:594.9|SCTID:79509009 owl:Class HGNC:6783 biolink:NamedThing MAG tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10294 biolink:NamedThing RPE65 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009998 biolink:NamedThing Richieri Costa-Pereira syndrome Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Richieri Costa Pereira syndrome|short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome|Richieri-Costa and Pereira form of acrofacial dysostosis|Richieri-Costa-Pereira syndrome|short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot|ROBIN sequence with cleft mandible and limb anomalies|Richieri Costa-Pereira syndrome|short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome SCTID:723998001|ICD10:Q87.8|Orphanet:3102|UMLS:C1849348|OMIM:268305|MESH:C535677|GARD:0004718 https://rarediseases.info.nih.gov/diseases/4718/richieri-costa-pereira-syndrome owl:Class HGNC:18683 biolink:NamedThing EIF4A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9402 biolink:NamedThing PRKCG tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000348 biolink:NamedThing choroidal cell of the eye A cell of the choroid of the eye. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class UBERON:0010259 biolink:NamedThing 1st arch mesenchyme from neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:28659 biolink:NamedThing phosphorus atom tmpaxzxjjyw_mondo_relaxed.owl fosforo|P|phosphore|15P|Phosphor|phosphorus|Phosphorus owl:Class GO:0002785 biolink:NamedThing negative regulation of antimicrobial peptide production Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide production. tmpaxzxjjyw_mondo_relaxed.owl inhibition of antimicrobial peptide production|downregulation of antimicrobial peptide production|down-regulation of antimicrobial peptide production|down regulation of antimicrobial peptide production owl:Class MONDO:0018561 biolink:NamedThing precocious puberty in female A precocious puberty that involves the female organism. tmpaxzxjjyw_mondo_relaxed.owl female organism precocious puberty|precocious puberty of female organism HP:0010465|Orphanet:435561|UMLS:C0271616 owl:Class MONDO:0023011 biolink:NamedThing Wilson-Mikity syndrome tmpaxzxjjyw_mondo_relaxed.owl Pulmonary dysmaturity syndrome|Wilson-Mikity syndrome|Pulmonary dysmaturity|wilson-mikity syndrome|pulmonary dysmaturity UMLS:C0270171|SCTID:51577008|GARD:0010495 owl:Class MONDO:0011102 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 12 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant 8|autosomal dominant deafness 8|autosomal dominant deafness 12|autosomal dominant nonsyndromic deafness type 12|deafness, autosomal dominant type 12|DFNA12|TECTA autosomal dominant nonsyndromic deafness|DFNA8|autosomal dominant nonsyndromic deafness 12|deafness, autosomal dominant 12|autosomal dominant nonsyndromic deafness caused by mutation in TECTA MESH:C563295|OMIM:601543|DOID:0110544|ICD10:H90.3|UMLS:C1832187 owl:Class GO:0097690 biolink:NamedThing iron ion transmembrane transporter inhibitor activity Binds to and stops, prevents, or reduces the activity of an iron ion transmembrane transporter. tmpaxzxjjyw_mondo_relaxed.owl iron channel inhibitor activity owl:Class GO:0001508 biolink:NamedThing action potential A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020789 biolink:NamedThing pseudo-TORCH syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl pseudo-TORCH syndrome|pseudo-TORCH syndrome type 1|pseudo-TORCH syndrome 1|PTORCH1 OMIM:251290 owl:Class HGNC:8104 biolink:NamedThing OCLN tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:10780 biolink:NamedThing Parvoviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:30938 biolink:NamedThing 6-aminopenicillanate tmpaxzxjjyw_mondo_relaxed.owl (2S,5R,6R)-6-amino-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylate owl:Class MONDO:0014759 biolink:NamedThing intellectual disability, autosomal recessive 51 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene. tmpaxzxjjyw_mondo_relaxed.owl HNMT autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 51|mental retardation, autosomal recessive 51|MRT51|intellectual disability, autosomal recessive type 51|intellectual disability, autosomal recessive 51|autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT OMIM:616739|UMLS:C4225220 owl:Class HGNC:5028 biolink:NamedThing HNMT tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010686 biolink:NamedThing manual digit phalanx cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11077 biolink:NamedThing Kunjin virus tmpaxzxjjyw_mondo_relaxed.owl West Nile virus - Kunjin GC_ID:1 ncbi_taxonomy owl:Class CL:0002555 biolink:NamedThing fibroblast of mammary gland A fibroblast that is part of the mammary gland. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-02-28T05:18:38Z cell owl:Class UBERON:0001611 biolink:NamedThing sublingual artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr9q22.3 biolink:NamedThing 9q22.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 99800000 91200000 hg38 owl:Class UBERON:0001678 biolink:NamedThing temporal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018408 biolink:NamedThing infra-orbital nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014689 biolink:NamedThing Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism|KFS4|Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome|Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism Orphanet:447974|ICD10:Q76.1|UMLS:C4225285|DOID:0080592|OMIM:616549 owl:Class HGNC:18150 biolink:NamedThing MYO18B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003942 biolink:NamedThing somatic sensory system tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:469 biolink:NamedThing AMPD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005366 biolink:NamedThing olfactory lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000855 biolink:NamedThing Insulin resistance Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. tmpaxzxjjyw_mondo_relaxed.owl Body fails to respond to insulin MSH:D007333|SNOMEDCT_US:48606007|UMLS:C0021655 human_phenotype owl:Class MONDO:0004203 biolink:NamedThing female urethral cancer A cancer that involves the female urethra. tmpaxzxjjyw_mondo_relaxed.owl cancer of female urethra|female urethra cancer|female urethral malignant neoplasm|malignant female urethra neoplasm|malignant neoplasm of female urethra UMLS:C1517154|DOID:738|NCIT:C39866 owl:Class HGNC:358 biolink:NamedThing AIP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006589 biolink:NamedThing occupational dermatitis Contact dermatitis associated with allergens or irritants found in the workplace. tmpaxzxjjyw_mondo_relaxed.owl occupational allergic contact dermatitis|occupational eczema|occupational dermatitis|occupational eczema (disorder) [ambiguous] SCTID:402587003|MESH:D009783|DOID:4404|ICD9:692.9|UMLS:C0028796|NCIT:C34859|EFO:1000744 owl:Class UBERON:8410015 biolink:NamedThing arteriole of colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003613 biolink:NamedThing cardiovascular system elastic tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011956 biolink:NamedThing right hepatic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001114 biolink:NamedThing right lobe of liver tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010703 biolink:NamedThing ornithine carbamoyltransferase deficiency Ornithine transcarbamylase deficiency (OTCD) is a disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found almost exclusively in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological complications. tmpaxzxjjyw_mondo_relaxed.owl ornithine transcarbamylase deficiency|ornithine carbamoyltransferase deficiency disease|OTCD|valproate sensitivity|OTC deficiency|OCT deficiency|deficiency of citrulline phosphorylase|ornithine transcarbamylase deficiency, hyperammonemia due to|ornithine carbamoyltransferase deficiency OMIM:311250|EFO:0007409|ICD10:E72.4|Orphanet:664|DOID:9271|NCIT:C84957|MESH:D020163|MedDRA:10052450|UMLS:C0268542|GARD:0008391|SCTID:80908008 owl:Class HGNC:8512 biolink:NamedThing OTC tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071745 biolink:NamedThing IgA immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of the IgA isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and sometimes complexed with J chain or J chain and secretory component. An IgA immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpaxzxjjyw_mondo_relaxed.owl IgA2 antibody|IgA1 antibody owl:Class MONDO:0018635 biolink:NamedThing idiopathic phalangeal acro-osteolysis tmpaxzxjjyw_mondo_relaxed.owl idiopathic phalangeal acroosteolysis ICD10:M89.5|Orphanet:444316 owl:Class MONDO:0003553 biolink:NamedThing ampulla of vater adenosquamous carcinoma A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss. tmpaxzxjjyw_mondo_relaxed.owl hepatopancreatic ampulla adenosquamous carcinoma|ampulla of Vater adenosquamous carcinoma UMLS:C1332245|NCIT:C27418|DOID:5628 owl:Class HGNC:473 biolink:NamedThing AMT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013662 biolink:NamedThing Barrett esophagus Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO) tmpaxzxjjyw_mondo_relaxed.owl Barrett's esophagus with esophagitis|CLE|Barrett metaplasia|Barrett's esophagus|Barrett's oesophagus|Barrett esophagus|Barretts syndrome|adenocarcinoma of esophagus|BE|ulcerative esophagitis|columnar epithelial-lined Lower esophagus|Barrett's ulcer of esophagus|cello|columnar-lined esophagus OMIM:614266|SCTID:196609006|ICD10:K22.7|Orphanet:99976|MESH:D001471|ICD9:530.85|NCIT:C2891|DOID:9206|EFO:0000280|Orphanet:1232|ICD10:K22.70 owl:Class MONDO:0010213 biolink:NamedThing xeroderma pigmentosum group E An autosomal recessive genetic disorder caused by mutations in the DDB2 gene. This disease exhibits the mildest degree of sun sensitivity of all xeroderma pigmentosum complementation groups, although individuals are at high risk for skin cancer. tmpaxzxjjyw_mondo_relaxed.owl XP, Group E|xeroderma pigmentosum 5|XP-E|XP group E|xeroderma pigmentosum, complementation group E|XPe|xeroderma pigmentosum, type 5|xeroderma pigmentosum V|xeroderma pigmentosum, complementation group type E|XP5|xeroderma pigmentosum group type E|xeroderma pigmentosum group E|XPE NCIT:C114771|GARD:0005627|SCTID:56048001|OMIM:278740|UMLS:C1848411|MESH:C564732|DOID:0110846|ICD10:Q82.1|Orphanet:910|Orphanet:276261 owl:Class NCBITaxon:1658400 biolink:NamedThing Hectopsyllidae tmpaxzxjjyw_mondo_relaxed.owl Tunginae|Tungidae GC_ID:1 NCBITaxon:163162 ncbi_taxonomy owl:Class NCBITaxon:129369 biolink:NamedThing Pulicoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:0002194 biolink:NamedThing monopoietic cell A cell involved in the formation of a monocyte (monopoiesis). tmpaxzxjjyw_mondo_relaxed.owl FMA:83552 tmeehan 2010-08-30T01:27:48Z cell owl:Class MONDO:0011718 biolink:NamedThing primary ciliary dyskinesia 2 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF3 gene. tmpaxzxjjyw_mondo_relaxed.owl DNAAF3 primary ciliary dyskinesia|primary ciliary dyskinesia type 2|primary ciliary dyskinesia 2 with or without situs inversus|CILD2|ciliary dyskinesia, primary, 2|primary ciliary dyskinesia caused by mutation in DNAAF3|ciliary dyskinesia, primary, type 2|ciliary dyskinesia, primary, 2, with or without situs inversus OMIM:606763|Orphanet:244|DOID:0110626|MESH:C535277|ICD10:Q34.8|UMLS:C1847554 owl:Class UBERON:0004294 biolink:NamedThing glomerular capillary endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013575 biolink:NamedThing plasma fibronectin deficiency tmpaxzxjjyw_mondo_relaxed.owl plasma fibronectin deficiency OMIM:614101 owl:Class MONDO:0014751 biolink:NamedThing palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies. tmpaxzxjjyw_mondo_relaxed.owl cleft palate, psychomotor retardation, and distinctive Facial features|cleft palate, psychomotor retardation, and distinctive FACIAL features|palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome|CPRF OMIM:616728|UMLS:C4225229|Orphanet:477993 owl:Class MONDO:0032616 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 10 tmpaxzxjjyw_mondo_relaxed.owl MC1DN10|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 OMIM:618233 owl:Class MONDO:0044098 biolink:NamedThing ovarian ectopic pregnancy An abnormal pregnancy in which the conception is implanted on the ovary. tmpaxzxjjyw_mondo_relaxed.owl ectopic pregnancy of ovary|Pregnancies, ovarian|ovarian Pregnancies|ovary ectopic pregnancy|ovarian pregnancy MESH:D065172|SCTID:9899009|NCIT:C92945 owl:Class MONDO:0000755 biolink:NamedThing ectopic pregnancy An abnormal pregnancy in which the conception is implanted outside the endometrial cavity. tmpaxzxjjyw_mondo_relaxed.owl extrauterine pregnancy|pregnancy, ectopic|eccyesis ICD9:633.8|ICD9:633|ICD9:633.90|DOID:0060329|NCIT:C34945|ICD10:O00.9|ICD9:633.9|SCTID:34801009|ICD10:O00|MESH:D011271|GARD:0006318 https://rarediseases.info.nih.gov/diseases/6318/ectopic-pregnancy owl:Class GO:0035936 biolink:NamedThing testosterone secretion The regulated release of testosterone into the circulatory system. Testosterone is an androgen having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018714 biolink:NamedThing primary intralymphatic angioendothelioma An intermediate, rarely metastasizing blood vessel neoplasm. It is characterized by the presence of lymphatic-like vascular channels and papillary endothelial proliferation. tmpaxzxjjyw_mondo_relaxed.owl papillary Endovascular angioendothelioma|Dabska tumor|malignant endothelial papillary angioendothelioma|pila|papillary intralymphatic angioendothelioma NCIT:C7526|UMLS:CN242194|ICD10:D18.0|Orphanet:458768|ICDO:9135/1 owl:Class UBERON:0001824 biolink:NamedThing mucosa of larynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002310 biolink:NamedThing anterior dislocation of lens tmpaxzxjjyw_mondo_relaxed.owl SCTID:37283009|ICD9:379.33|ICD10:H27.12|DOID:2460|UMLS:C0155372 owl:Class CL:0000789 biolink:NamedThing alpha-beta T cell A T cell that expresses an alpha-beta T cell receptor complex. tmpaxzxjjyw_mondo_relaxed.owl alpha-beta T-cell|alpha-beta T-lymphocyte|alpha-beta T lymphocyte cell owl:Class NCBITaxon:5820 biolink:NamedThing Plasmodium tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class ECTO:7000119 biolink:NamedThing exposure to contaminated water A exposure event involving the interaction of an exposure receptor to contaminated water. tmpaxzxjjyw_mondo_relaxed.owl contaminated water exposure owl:Class MONDO:0011484 biolink:NamedThing catecholaminergic polymorphic ventricular tachycardia 1 Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene. tmpaxzxjjyw_mondo_relaxed.owl ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy|CVPT1|CPVT1|catecholaminergic polymorphic ventricular tachycardia 1|ventricular tachycardia, stress-induced polymorphic|catecholaminergic polymorphic ventricular tachycardia type 1 OMIM:604772|DOID:0060675|UMLS:C4053736|ICD10:I47.2|UMLS:C1631597|Orphanet:3286|NCIT:C123414 owl:Class MONDO:0008445 biolink:NamedThing delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. tmpaxzxjjyw_mondo_relaxed.owl Mehes syndrome|delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases|speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE OMIM:182875|Orphanet:3038|ICD10:Q87.0|GARD:0003449|UMLS:C2931119|SCTID:716199000 owl:Class MONDO:0003400 biolink:NamedThing childhood endodermal sinus tumor A yolk sac tumor that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood endodermal sinus neoplasm|pediatric yolk Sac neoplasm|childhood yolk Sac neoplasm|childhood endodermal sinus tumor|pediatric endodermal sinus neoplasm|childhood yolk Sac tumor|pediatric yolk Sac tumor DOID:5342|UMLS:C1333016|NCIT:C27364 owl:Class MONDO:0021669 biolink:NamedThing post-infectious disorder A disorder that follows infection but is distinct from the infection itself and its usual manifestations. tmpaxzxjjyw_mondo_relaxed.owl sequela of infectious disorder ICD9:139.8|SCTID:123976001 owl:Class NCBITaxon:197912 biolink:NamedThing Betainfluenzavirus tmpaxzxjjyw_mondo_relaxed.owl Influenzavirus B GC_ID:1 ncbi_taxonomy owl:Class HP:0006685 biolink:NamedThing Endocardial fibrosis The presence of excessive connective tissue in the endocardium. tmpaxzxjjyw_mondo_relaxed.owl Endomyocardial fibrosis UMLS:C0553980|MSH:D004719|SNOMEDCT_US:398716006 HP:0005169 human_phenotype owl:Class UBERON:0010260 biolink:NamedThing umbilical blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007255 biolink:NamedThing intervertebral disk of lumbar vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070255 biolink:NamedThing regulation of mucus secretion Any process that modulates the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. tmpaxzxjjyw_mondo_relaxed.owl regulation of mucus production owl:Class IAO:0000409 biolink:NamedThing denotator type A denotator type indicates how a term should be interpreted from an ontological perspective.|A denotator type indicates how a term should be interpreted from an ontological perspective. tmpaxzxjjyw_mondo_relaxed.owl Barry Smith, Werner Ceusters|Barry Smith, Werner Ceusters denotator type The Basic Formal Ontology ontology makes a distinction between Universals and defined classes, where the formal are "natural kinds" and the latter arbitrary collections of entities.|The Basic Formal Ontology ontology makes a distinction between Universals and defined classes, where the formal are "natural kinds" and the latter arbitrary collections of entities. Alan Ruttenberg|Alan Ruttenberg owl:Class MONDO:0008398 biolink:NamedThing salivary substance, Clostridium botulinum type tmpaxzxjjyw_mondo_relaxed.owl salivary substance, Clostridium botulinum type OMIM:180950|UMLS:C1867056 owl:Class HGNC:18801 biolink:NamedThing POGZ tmpaxzxjjyw_mondo_relaxed.owl owl:Class UPHENO:0001001 biolink:NamedThing phenotype tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:2001089 biolink:NamedThing myoseptum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005250 biolink:NamedThing stomatodeum gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010338 biolink:NamedThing X-linked distal spinal muscular atrophy type 3 X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males. tmpaxzxjjyw_mondo_relaxed.owl X-linked dHMN type 3|spinal muscular atrophy, distal, X-linked type 3|SMAX3|Dsmax|X-linked distal hereditary motor neuropathy type 3|X-linked dHMN3|DSMAX|spinal muscular atrophy, distal, X-linked 3|spinal muscular atrophy, distal, X-linked recessive|ATP7A spinal muscular atrophy|X-linked dSMA3|ATP7A-related distal motor neuropathy|spinal muscular atrophy caused by mutation in ATP7A|X-linked dSMA type 3 UMLS:C1845359|SCTID:766764008|OMIM:300489|Orphanet:139557|DOID:0111196|ICD10:G12.2|MESH:C564506 owl:Class MONDO:0018451 biolink:NamedThing X-linked distal hereditary motor neuropathy X-linked form of distal hereditary motor neuropathy. tmpaxzxjjyw_mondo_relaxed.owl X-linked dHMN|distal hereditary motor neuropathy, X-linked|X-linked distal spinal muscular atrophy Orphanet:404538|ICD10:G12.2 owl:Class MONDO:0012146 biolink:NamedThing familial hemophagocytic lymphohistiocytosis 3 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the UNC13D gene. tmpaxzxjjyw_mondo_relaxed.owl hemophagocytic lymphohistiocytosis, familial, 3|Hplh3|genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D|HLH3|familial hemophagocytic lymphohistiocytosis type 3|UNC13D genetic hemophagocytic lymphohistiocytosis|FHL3|HPLH3|Hlh3|hemophagocytic lymphohistiocytosis, familial, type 3 MESH:C537251|OMIM:608898|DOID:0110923|Orphanet:540|GARD:0009928 https://rarediseases.info.nih.gov/diseases/9928/hemophagocytic-lymphohistiocytosis-familial-3 owl:Class HGNC:25135 biolink:NamedThing LRSAM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044144 biolink:NamedThing panic disorder with agoraphobia A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is a component of this disorder. tmpaxzxjjyw_mondo_relaxed.owl panic disorder with agoraphobia NCIT:C97194|SCTID:35607004 owl:Class MONDO:0003709 biolink:NamedThing agoraphobia An anxiety disorder characterized by an intense, irrational fear of venturing out into open places or situations in which help (or escape) might not be available should excessive anxiety or panic symptoms develop. tmpaxzxjjyw_mondo_relaxed.owl fear of open spaces (finding)|fear of open spaces DOID:593|EFO:1001872|ICD10:F40.00|MESH:D000379|SCTID:70691001|NCIT:C34362|ICD10:F40.0 owl:Class MONDO:0016949 biolink:NamedThing partial duplication of the short arm of chromosome 16 Chromosome 16p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 16. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 16p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl chromosome 16p duplication|Duplication 16p|16p duplication|partial trisomy of chromosome 16p|partial trisomy of the short arm of chromosome 16|16p trisomy|trisomy 16p|partial trisomy 16p|partial duplication of chromosome 16p|partial duplication of the short arm of chromosome type 16 UMLS:C0795861|Orphanet:262794|GARD:0005315 owl:Class MONDO:0016934 biolink:NamedThing partial duplication of chromosome 16 tmpaxzxjjyw_mondo_relaxed.owl partial duplication of chromosome type 16|partial trisomy of chromosome 16 Orphanet:262672|SCTID:726355001 owl:Class GO:0150073 biolink:NamedThing regulation of protein-glutamine gamma-glutamyltransferase activity Any process that modulates the frequency, rate or extent of protein-glutamine gamma-glutamyltransferase activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012293 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 23 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive type 23|PCDH15 autosomal recessive nonsyndromic deafness|DFNB23|autosomal recessive deafness 23|autosomal recessive nonsyndromic deafness caused by mutation in PCDH15|autosomal recessive nonsyndromic deafness type 23|deafness, autosomal recessive 23|autosomal recessive nonsyndromic deafness 23 Orphanet:90636|DOID:0110481|ICD10:H90.3|OMIM:609533|UMLS:C1836027|MESH:C563705 owl:Class MONDO:0043075 biolink:NamedThing neuroaxonal dystrophy renal tubular acidosis tmpaxzxjjyw_mondo_relaxed.owl CNS disorder characterized by severe behavioral retardation, hypotonia, inability to talk, marked tremors, gait disturbances and inability to concentr|Maccario Mena weir syndrome MESH:C537386|UMLS:C2931479|GARD:0000349 owl:Class MONDO:0002283 biolink:NamedThing neuroaxonal dystrophy A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927) tmpaxzxjjyw_mondo_relaxed.owl MESH:D019150|NCIT:C161542|DOID:2367|UMLS:C0338473|SCTID:230365004 owl:Class MONDO:0011753 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 14|EIG2|epilepsy, idiopathic generalized, susceptibility to, 2 DOID:0111317|OMIM:606972 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0021008 biolink:NamedThing secondary antiphospholipid syndrome An antiphospholipid syndrome that occurs alongside another autoimmune disorder. tmpaxzxjjyw_mondo_relaxed.owl SCTID:239895006|UMLS:C0409983|ICD9:795.79 owl:Class GO:0002712 biolink:NamedThing regulation of B cell mediated immunity Any process that modulates the frequency, rate, or extent of B cell mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl regulation of B lymphocyte mediated immunity|regulation of B-cell mediated immunity|regulation of B-lymphocyte mediated immunity owl:Class UBERON:2005260 biolink:NamedThing fenestrated capillary tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009127 biolink:NamedThing purine nucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine nucleoside monophosphate synthesis|purine nucleoside monophosphate formation|purine nucleoside monophosphate anabolism|purine nucleoside monophosphate biosynthesis owl:Class MONDO:0020050 biolink:NamedThing autosomal trisomy A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. tmpaxzxjjyw_mondo_relaxed.owl trisomy|chromosomal triplication|autosomal duplication 2022-04-01 ICD9:758.5|Orphanet:98130|NCIT:C3421|SCTID:429442006|UMLS:C1996945|GARD:0006065 Reason: grouping class. Term to consider: MONDO:0700065 MONDO:0700065 owl:Class UBERON:2001950 biolink:NamedThing inter-premaxillary joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015090 biolink:NamedThing autosomal recessive pure spastic paraplegia Autosomal recessive form of pure hereditary spastic paraplegia. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive uncomplicated spastic paraplegia|autosomal recessive pure HSP|autosomal recessive pure SPG|autosomal recessive uncomplicated SPG|pure hereditary spastic paraplegia, autosomal recessive|autosomal recessive uncomplicated HSP|autosomal recessive pure hereditary spastic paraplegia Orphanet:100982|ICD10:G11.4|UMLS:CN228910 owl:Class MONDO:0005375 biolink:NamedThing nasopharyngeal neoplasm A benign or malignant neoplasm affecting the nasopharynx. Representative examples of benign neoplasms include angiofibroma and squamous papilloma. Representative examples of malignant neoplasms include keratinizing squamous cell carcinoma and nonkeratinizing carcinoma. tmpaxzxjjyw_mondo_relaxed.owl tumor of nasopharynx|nasopharynx tumor|tumor of the nasopharynx|neoplasm of nasopharynx|nasopharynx neoplasm (disease)|nasopharyngeal neoplasms|nasopharynx neoplasm|neoplasm of the nasopharynx|nasopharyngeal tumor MESH:D009303|SCTID:126680004|MESH:C538339|NCIT:C3257|EFO:0004252|UMLS:C0027439 MONDO:0021362 owl:Class MONDO:0005691 biolink:NamedThing cardiovirus infectious disease Infections caused by viruses of the genus cardiovirus, family picornaviridae. tmpaxzxjjyw_mondo_relaxed.owl Cardiovirus infection|infection, Cardiovirus|infections, Cardiovirus EFO:0007194|UMLS:C0206617|MESH:D018188 owl:Class CHEBI:36344 biolink:NamedThing hadron Hadron is a subatomic particle which experiences the strong force. tmpaxzxjjyw_mondo_relaxed.owl hadrons owl:Class GO:0006112 biolink:NamedThing energy reserve metabolic process The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. tmpaxzxjjyw_mondo_relaxed.owl energy reserve metabolism owl:Class MONDO:0009964 biolink:NamedThing short-rib thoracic dysplasia 9 with or without polydactyly An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. tmpaxzxjjyw_mondo_relaxed.owl Mainzer Saldino syndrome|Conorenal syndrome|renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia|Mainzer-Saldino syndrome|Saldino-Mainzer syndrome|SRTD9|short-rib thoracic dysplasia 9 with or without polydactyly SCTID:254092004|GARD:0008600|Orphanet:140969|DOID:0110097|OMIM:266920|ICD9:759.89|OMIM:615630|ICD10:Q87.5 owl:Class HGNC:17877 biolink:NamedThing NMNAT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019542 biolink:NamedThing acute liver failure Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections. tmpaxzxjjyw_mondo_relaxed.owl fulminant hepatic failure|acute hepatic failure UMLS:C0162557|MESH:D017114|NCIT:C84396|ICD10:K72.0|SCTID:197270009|MedDRA:10000804|Orphanet:90062 owl:Class HP:0007663 biolink:NamedThing Reduced visual acuity tmpaxzxjjyw_mondo_relaxed.owl Decreased central vision|Decreased visual acuity|Poor visual acuity|Decreased clarity of vision SNOMEDCT_US:13164000|UMLS:C0234632 HP:0008008|HP:0001091|HP:0007693|HP:0007969|HP:0007739 human_phenotype owl:Class MONDO:0013874 biolink:NamedThing glucocorticoid deficiency 4 Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene. tmpaxzxjjyw_mondo_relaxed.owl glucocorticoid deficiency type 4|NNT familial glucocorticoid deficiency|familial glucocorticoid deficiency caused by mutation in NNT|GCCD4|glucocorticoid deficiency 4|glucocorticoid deficiency 4 with or without mineralocorticoid deficiency NCIT:C131452|OMIM:614736|UMLS:C3553587|Orphanet:361 owl:Class MONDO:0003655 biolink:NamedThing cerebral lymphoma A non-Hodgkin or Hodgkin lymphoma that arises in the cerebral hemispheres as a primary lesion. tmpaxzxjjyw_mondo_relaxed.owl primary lymphoma, brain|primary lymphoma of the cerebrum|primary lymphoma of cerebrum|cerebral lymphoma|primary cerebral lymphoma|brain primary lymphoma UMLS:C0240803|SCTID:276836002|NCIT:C7611|DOID:5815 owl:Class UBERON:0004374 biolink:NamedThing vitelline vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015943 biolink:NamedThing eosinophilic granulomatosis with polyangiitis Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia. tmpaxzxjjyw_mondo_relaxed.owl Granulomatoses, allergic|angiitis, allergic granulomatous|allergic granulomatous angiitis|allergic granulomatous and angiitis|angiitis, granulomatous allergic|syndrome, Churg-Strauss|Angiitides, allergic|granulomatous allergic angiitis|Angiitides, granulomatous allergic|granulomatous allergic Angiitides|Vasculitides, eosinophilic granulomatous|Churg-Strauss syndrome|allergic granulomatous Angiitides|allergic Angiitides, granulomatous|angiitis, allergic|Churg-Strauss vasculitis|Churg Strauss syndrome|allergic angiitis|granulomatous angiitis, allergic|Angiitides, allergic granulomatous|granulomatous Vasculitides, eosinophilic|granulomatous vasculitis, eosinophilic|granulomatous Angiitides, allergic|allergic angiitis, granulomatous|eosinophilic granulomatous Vasculitides|vasculitis, Churg Strauss|vasculitis, eosinophilic granulomatous|allergic granulomatosis|allergic angiitis and granulomatosis|vasculitis, Churg-Strauss|allergic Angiitides|EGPA|eosinophilic granulomatous vasculitis|allergic granulomatosis angiitis|allergic Granulomatoses|granulomatosis, allergic GARD:0006111|SCTID:82275008|MedDRA:10048594|Orphanet:183|MESH:D015267|GARD:0005776|DOID:3049|NCIT:C34481|ICD10:M30.1|EFO:0007208|UMLS:C0008728 owl:Class NCBITaxon:1538075 biolink:NamedThing Malasseziomycetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:452284 biolink:NamedThing Ustilaginomycotina tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:519 biolink:NamedThing Bordetella parapertussis tmpaxzxjjyw_mondo_relaxed.owl Haemophilus parapertussis|Bacillus parapertussis|Acinetobacter parapertussis GC_ID:11|PMID:8240949|PMID:8782670 ncbi_taxonomy owl:Class MONDO:0006000 biolink:NamedThing tuberculous peritonitis A form of peritonitis seen in patients with tuberculosis, characterized by lesion either as a miliary form or as a pelvic mass on the peritoneal surfaces. Most patients have ascites, abdominal swelling, abdominal pain, and other systemic symptoms such as fever; weight loss; and anemia. tmpaxzxjjyw_mondo_relaxed.owl Mycobacterium tuberculosis peritonitis|Mycobacterium tuberculosis caused peritonitis MESH:D014395|EFO:0007529|ICD10:A18.31|DOID:9801|ICD9:014.00|ICD9:014.0|UMLS:C0041325|SCTID:44572005|ICD9:014.01 owl:Class CHEBI:62215 biolink:NamedThing allelochemical A class of secondary metabolites developed by many plants to influence the behaviour, growth or survival of herbivores, and thus acting as a defence against herbivory. tmpaxzxjjyw_mondo_relaxed.owl allelochemicals owl:Class NCBITaxon:1851469 biolink:NamedThing Trichosporonales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:155616 biolink:NamedThing Tremellomycetes tmpaxzxjjyw_mondo_relaxed.owl Tremellomycetidae|Heterobasidiomycetes PMID:26955199|GC_ID:1 NCBITaxon:165804|NCBITaxon:165805 ncbi_taxonomy owl:Class HP:0001933 biolink:NamedThing Subcutaneous hemorrhage This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). tmpaxzxjjyw_mondo_relaxed.owl Subcutaneous haemorrhage|Bleeding below the skin UMLS:C0854107 Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. peter 2008-02-28T07:14:00Z human_phenotype owl:Class MONDO:0009112 biolink:NamedThing rhizomelic chondrodysplasia punctata type 2 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene. tmpaxzxjjyw_mondo_relaxed.owl Dihydroxyacetonephosphate acyltransferase deficiency|rhizomelic chondrodysplasia punctata type 2|Gnpat deficiency|chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate|GNPAT rhizomelic chondrodysplasia punctata|type 2 rhizomelic chondrodysplasia punctata|Dhapat deficiency|RCDP2|Rcdp2|rhizomelic chondrodysplasia punctata caused by mutation in GNPAT|chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency|Glyceronephosphate O-acyltransferase deficiency|rhizomelic chondrodysplasia punctata, type 2|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency MESH:C537607|Orphanet:177|UMLS:C1857242|ICD10:Q77.3|DOID:0110852|Orphanet:309796|GARD:0009429|OMIM:222765 https://rarediseases.info.nih.gov/diseases/9429/rhizomelic-chondrodysplasia-punctata-type-2|https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0007903 biolink:NamedThing Li-Fraumeni syndrome 1 Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the TP53 gene. tmpaxzxjjyw_mondo_relaxed.owl LFS|Li-Fraumeni syndrome caused by mutation in TP53|Li-Fraumeni-like syndrome|sarcoma family syndrome of 51 and Fraumeni|Li-Fraumeni syndrome|Sbla syndrome|LFS3|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome 3|Li-Fraumeni syndrome type 1|LFS1|TP53 Li-Fraumeni syndrome UMLS:C1835398|OMIM:151623|OMIM:609266|MESH:C563754|DOID:0111503|UMLS:C1836481|Orphanet:524 owl:Class MONDO:0003147 biolink:NamedThing space motion sickness Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary) tmpaxzxjjyw_mondo_relaxed.owl Space adaptation syndrome|syndrome, Space adaptation|motion sickness, Space|adaptation syndrome, Space EFO:1001188|MESH:D018489|DOID:4796|UMLS:C0242700 owl:Class MONDO:0013406 biolink:NamedThing age related macular degeneration 6 Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene. tmpaxzxjjyw_mondo_relaxed.owl RAX2 age-related macular degeneration|age-related macular degeneration caused by mutation in RAX2|macular degeneration, age-related, 6|ARMD6|age related macular degeneration type 6|macular Degeneration, age-related, type 6 UMLS:C3151060|OMIM:613757|MESH:C563674|DOID:0110018 owl:Class MONDO:0019772 biolink:NamedThing blepharospasm-oromandibular dystonia syndrome Blepharospasm-oromandibular dystonia, also called Meige dystonia or Meige syndrome is a focal dystonia involving symmetrical benign essential blepharospasm (BEB) and oromandibular dystonia. tmpaxzxjjyw_mondo_relaxed.owl Meige's syndrome|blepharospasm - oromandibular dystonia|Brueghel syndrome|idiopathic blepharospasm-oromandibular dystonia syndrome|blepharospasm-oromandibular dystonia|segmental cranial dystonia|Meige syndrome|oral facial dystonia|Meige dystonia MESH:D008538|DOID:3982|ICD10:G24.8|GARD:0007008|Orphanet:93964|SCTID:230325003 owl:Class MONDO:0004166 biolink:NamedThing hereditary fallopian tube carcinoma Fallopian tube carcinoma that has developed in relatives of patients that have a history of fallopian tube carcinoma. tmpaxzxjjyw_mondo_relaxed.owl familiar fallopian tube carcinoma|hereditary fallopian tube cancer|familial fallopian tube carcinoma|hereditary fallopian tube carcinoma UMLS:C1512418|DOID:7266|NCIT:C40455 owl:Class HGNC:11281 biolink:NamedThing SRA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011016 biolink:NamedThing type 1 diabetes mellitus 11 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 14q24.3-q31. tmpaxzxjjyw_mondo_relaxed.owl IDDM11|insulin-dependent diabetes mellitus 11|diabetes mellitus, insulin-dependent, 11 DOID:0110750|MESH:C563371|ICD10:E10|OMIM:601208|UMLS:C1832605 owl:Class MONDO:0020541 biolink:NamedThing maligant granulosa cell tumor of ovary An aggressive granulosa cell tumor that arises from the ovary and metastasizes to other anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl malignant granulosa cell neoplasm of ovary|granulosa theca cell tumor of the ovary|malignant ovarian granulosa cell tumor|adult ovarian granulosa cell tumor|granulosa cell malignant tumor|malignant granulosa cell neoplasm of the ovary|granulosa theca cell tumor|malignant ovarian granulosa cell neoplasm|Maligant granulosa cell tumor of the ovary|malignant granulosa cell neoplasm|granulosa cell cancer|GTCT|malignant granulosa cell tumor of the ovary|cancer of granulosa cell|ovarian granulosa cell tumor of adults|adult granulosa cell tumor of the ovary|malignant granulosa cell tumor of ovary|GCT of the ovary Orphanet:99915|GARD:0008642|UMLS:CN207442|ICD10:C56|UMLS:C0346175|SCTID:254861002|MESH:D006106|UMLS:C1370419|NCIT:C8403 https://rarediseases.info.nih.gov/diseases/8642/granulosa-cell-tumor-of-the-ovary owl:Class MONDO:0016869 biolink:NamedThing partial deletion of chromosome 4 tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome type 4|partial monosomy of chromosome 4 Orphanet:261781 owl:Class UBERON:0005299 biolink:NamedThing prepuce of clitoris tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:83820 biolink:NamedThing non-proteinogenic amino acid Any amino-acid that is not naturally encoded in the genetic code of any organism. tmpaxzxjjyw_mondo_relaxed.owl non-canonical amino-acids|non-coded amino acid|non-coded amino acids|non-proteinogenic amino acids|non-proteinogenic amino-acids|non-proteinogenic amino-acid|non-canonical amino-acid|non-canonical amino acid|non-canonical amino acids|non-coded amino-acid|non-coded amino-acids owl:Class MONDO:0018185 biolink:NamedThing congenital anomaly of the great veins tmpaxzxjjyw_mondo_relaxed.owl Orphanet:363189 owl:Class GO:2001024 biolink:NamedThing negative regulation of response to drug Any process that stops, prevents or reduces the frequency, rate or extent of response to drug. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of drug resistance|negative regulation of drug susceptibility/resistance owl:Class HP:0011793 biolink:NamedThing Neoplasm by anatomical site Neoplasm categorized according to the anatomical site of origin of the neoplasm. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023185 peter 2012-04-22T07:00:13Z human_phenotype owl:Class MONDO:0012841 biolink:NamedThing inflammatory bowel disease 18 An inflammatory bowel disease that has material basis in variation in the chromosome region 5p13.1. tmpaxzxjjyw_mondo_relaxed.owl inflammatory bowel disease 18|IBD18|inflammatory bowel disease type 18 MESH:C567377|UMLS:C2677090|DOID:0110888|OMIM:612262 owl:Class GO:2000242 biolink:NamedThing negative regulation of reproductive process Any process that stops, prevents, or reduces the frequency, rate or extent of reproductive process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:42740 biolink:NamedThing Opalinata tmpaxzxjjyw_mondo_relaxed.owl Slopalinida GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003918 biolink:NamedThing angiomatous meningioma A WHO grade I meningioma characterized by the presence of small and medium sized vessels that predominate over the meningioma cells. tmpaxzxjjyw_mondo_relaxed.owl angiomatous meningioma (morphologic abnormality) NCIT:C4332|EFO:1000086|ICDO:9534/0|DOID:6548|MESH:D008579|UMLS:C0334608 owl:Class MONDO:0008332 biolink:NamedThing pseudo-von Willebrand disease Platelet type Von Willebrand disease (PT-VWD) is a bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. PT-VWD is due to hyperresponsive platelets, resulting in thrombocytopenia. tmpaxzxjjyw_mondo_relaxed.owl von Willebrand disease platelet-type|Platelet type-von Willebrand disease|Platelet-type von Willebrand disease|platelet type-von Willebrand disease|PT-VWD|bleeding disorder, Platelet-type, 3|Von Willebrand disease, Platelet-type|BDPLT3|Von Willebrand disease, platelet type|pseudo-von Willebrand disease|platelet-type bleeding disorder 3|pseudo-VON WILLEBRAND disease|VWDP|pseudo-von Willebrand disease type 2B Orphanet:52530|GARD:0008312|ICD10:D69.8|NCIT:C131681|MESH:C536458|OMIM:177820|DOID:0111056 Editor note: check relationship to vWD owl:Class MONDO:0013531 biolink:NamedThing PSPH deficiency 3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome. tmpaxzxjjyw_mondo_relaxed.owl PSPHD|PSPH deficiency|phosphoserine phosphatase deficiency|3-phosphoserine phosphatase deficiency DOID:0050724|UMLS:C1291463|Orphanet:79350|SCTID:124432005|OMIM:614023|ICD9:277.6|ICD10:E72.8 owl:Class MONDO:0005968 biolink:NamedThing sporotrichosis The commonest and least serious of the deep mycoses, characterized by nodular lesions of the cutaneous and subcutaneous tissues. It is caused by inhalation of contaminated dust or by infection of a wound. tmpaxzxjjyw_mondo_relaxed.owl rose gardener's disease UMLS:C0038034|EFO:0007494|ICD10:B42.8|SCTID:42094007|GARD:0007692|MedDRA:10041736|ICD10:B42.0|ICD10:B42.1|Orphanet:826|ICD10:B42.7|DOID:14484|ICD10:B42|ICD10:B42.9|ICD9:117.1|MESH:D013174 https://rarediseases.info.nih.gov/diseases/7692/sporotrichosis owl:Class UBERON:0002343 biolink:NamedThing abdomen musculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051037 biolink:NamedThing regulation of transcription involved in meiotic cell cycle Any process that modulates the frequency, rate or extent of transcription as part of a meiotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl regulation of transcription, meiotic|meiotic regulation of transcription owl:Class MONDO:0009099 biolink:NamedThing nephrogenic diabetes insipidus-intracranial calcification syndrome This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl Schofer Beetz Bohl syndrome|diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification|Schofer-Beetz-Bohl syndrome|diabetes insipidus nephrogenic mental retardation and intracerebral calcification|diabetes insipidus nephrogenic intellectual disability and intracerebral calcification|diabetes insipidus, nephrogenic, with intellectual disability and intracerebral calcification SCTID:716200002|ICD10:N21.5|GARD:0000259|OMIM:221995|Orphanet:3145 https://rarediseases.info.nih.gov/diseases/259/diabetes-insipidus-nephrogenic-mental-retardation-and-intracerebral-calcification owl:Class MONDO:0022060 biolink:NamedThing calloso-genital dysplasia tmpaxzxjjyw_mondo_relaxed.owl primary amenorrhoea with coloboma and total agenesis of the corpus callosum GARD:0001055|MESH:C537962|UMLS:C2931677 https://rarediseases.info.nih.gov/diseases/1055/calloso-genital-dysplasia owl:Class CL:0002546 biolink:NamedThing embryonic blood vessel endothelial progenitor cell An endothelial progenitor cell that participates in angiogenesis during development. tmpaxzxjjyw_mondo_relaxed.owl See CL:0002619. tmeehan 2011-02-28T04:20:39Z cell owl:Class MONDO:0005300 biolink:NamedThing chronic kidney disease Impairment of the renal function secondary to chronic kidney damage persisting for three or more months. tmpaxzxjjyw_mondo_relaxed.owl chronic kidney disease|chronic renal disease|renal failure - chronic|kidney disease, chronic|CKD|CKD - chronic kidney disease|chronic renal insufficiency|chronic renal failure syndrome ICD9:585|MESH:D051436|ICD10:N18.9|UMLS:C0022661|SCTID:46177005|MESH:D007676|NCIT:C80078|DOID:784|ICD9:585.6|NCIT:C9438|SCTID:709044004|SCTID:90688005|EFO:0003884 owl:Class MONDO:0021542 biolink:NamedThing hemangioma of choroid A hemangioma that involves the optic choroid. tmpaxzxjjyw_mondo_relaxed.owl benign choroid hemangioma|choroid angioma|optic choroid hemangioma|hemangioma of optic choroid|benign choroid angioma|benign hemangioma of the choroid|benign angioma of choroid|angioma of choroid|benign hemangioma of choroid|choroid hemangioma|hemangioma of the choroid|benign angioma of the choroid|angioma of the choroid|hemangioma, choroid, benign UMLS:C0346390|ICD9:228.09|SCTID:255022003|NCIT:C4562 owl:Class MONDO:0018232 biolink:NamedThing primary bone dysplasia with micromelia tmpaxzxjjyw_mondo_relaxed.owl primary skeletal dysplasia with micromelia|primary osteodysplasia with micromelia 2022-01-01 Orphanet:364536 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class MONDO:0004936 biolink:NamedThing uterine inversion A complication of obstetric labor in which the corpus of the uterus is forced completely or partially through the uterine cervix. This can occur during the late stages of labor and is associated with immediate postpartum hemorrhage. tmpaxzxjjyw_mondo_relaxed.owl EFO:1001446|SCTID:27215002|DOID:997|ICD9:665.2|MESH:D019687|ICD10:N85.5 owl:Class UBERON:0011282 biolink:NamedThing nail of pedal digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009567 biolink:NamedThing nail of pedal digit tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043116 biolink:NamedThing iida kannari syndrome tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features MESH:C536284|GARD:0003249|UMLS:C2931159 owl:Class MONDO:0016001 biolink:NamedThing 2-hydroxyglutaric aciduria 2-Hydroxyglutaric aciduria is a group of neurometabolic disorders with a wide clinical spectrum ranging from severe neonatal presentations to progressive forms, and asymptomatic cases, characterized biochemically by increased levels of 2-hydroxyglutaric acid in the plasma, cerebrospinal fluid and urine. tmpaxzxjjyw_mondo_relaxed.owl 2-hydroxyglutaric acidemia|2-hydroxyglutaric aciduria|2-HGA NCIT:C128187|ICD9:270.8|DOID:0050573|UMLS:C2746066|MESH:C535306|ICD10:E72.8|GARD:0010761|SCTID:698870008|Orphanet:19 https://rarediseases.info.nih.gov/diseases/10761/2-hydroxyglutaric-aciduria owl:Class MONDO:0003654 biolink:NamedThing childhood parosteal osteosarcoma A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It occurs in childhood and usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. The prognosis is usually excellent. tmpaxzxjjyw_mondo_relaxed.owl childhood parosteal osteogenic sarcoma|childhood parosteal osteosarcoma NCIT:C6589|UMLS:C1332994|DOID:5809 owl:Class GO:0043065 biolink:NamedThing positive regulation of apoptotic process Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. tmpaxzxjjyw_mondo_relaxed.owl pro-apoptosis|stimulation of apoptosis|up-regulation of apoptosis|positive regulation of apoptosis|upregulation of apoptosis|up regulation of apoptosis|activation of apoptosis owl:Class MONDO:0019790 biolink:NamedThing neuroleptic malignant syndrome Neuroleptic malignant syndrome (NMS) is an idiosyncratic condition associated with administration of antipsychotic and other central dopaminergic blockers, and characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness. tmpaxzxjjyw_mondo_relaxed.owl NMS Orphanet:94093|MedDRA:10029282|UMLS:C0027849|MESH:D009459|NCIT:C94829|ICD9:333.92|SCTID:15244003|ICD10:G21.0|GARD:0007195|DOID:14464|EFO:1001379 https://rarediseases.info.nih.gov/diseases/7195/neuroleptic-malignant-syndrome owl:Class MONDO:0019320 biolink:NamedThing acanthokeratolytic verrucous nevus tmpaxzxjjyw_mondo_relaxed.owl verrucous nevus acanthokeratolytic ICD10:Q82.5|Orphanet:79468|UMLS:CN205975|GARD:0005485 https://rarediseases.info.nih.gov/diseases/5485/verrucous-nevus-acanthokeratolytic owl:Class ECTO:3000005 biolink:NamedThing exposure to humans A history of exposure to Homo sapiens. tmpaxzxjjyw_mondo_relaxed.owl Homo sapiens exposure owl:Class GO:0002694 biolink:NamedThing regulation of leukocyte activation Any process that modulates the frequency, rate, or extent of leukocyte activation. tmpaxzxjjyw_mondo_relaxed.owl regulation of leucocyte activation|regulation of immune cell activation owl:Class MONDO:0014492 biolink:NamedThing woolly hair-palmoplantar keratoderma syndrome Woolly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/woolly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although woolly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. tmpaxzxjjyw_mondo_relaxed.owl KWWH type IV|palmoplantar keratoderma and woolly hair|woolly hair-palmoplantar hyperkeratosis syndrome|PPKWH|keratoderma with woolly hair type IV Orphanet:420686|SCTID:764108000|UMLS:C4015202|OMIM:616099|ICD10:Q82.8 owl:Class MONDO:0015850 biolink:NamedThing transverse vaginal septum tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q52.11|ICD10:Q52.1|Orphanet:180160|HP:0000145 owl:Class MONDO:0030049 biolink:NamedThing 46,xx sex reversal 5 tmpaxzxjjyw_mondo_relaxed.owl 46,XX SEX REVERSAL 5|SRXX5|46,xx sex reversal 5 OMIM:618901 owl:Class GO:1902221 biolink:NamedThing erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process The chemical reactions and pathways involving erythrose 4-phosphate/phosphoenolpyruvate family amino acid. tmpaxzxjjyw_mondo_relaxed.owl erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolism owl:Class HP:0000940 biolink:NamedThing Abnormal diaphysis morphology An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. tmpaxzxjjyw_mondo_relaxed.owl Abnormality involving the diaphyses of the limbs|Anomaly of the limb diaphyses|Abnormal shape of shaft of long bone|Abnormality of the diaphyses|Abnormality of shaft of long bone of the limbs|Anomaly of the limb diaphyses morphology UMLS:C4021787 HP:0006504 human_phenotype owl:Class HGNC:9006 biolink:NamedThing PITX3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001802 biolink:NamedThing acute tympanitis tmpaxzxjjyw_mondo_relaxed.owl acute myringitis ICD10:H73.00|DOID:13790|ICD9:384.00|UMLS:C0155460|ICD10:H73.0|ICD10:H73.009|SCTID:297009 owl:Class NCIT:C15330 biolink:NamedThing Digestive System Surgery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004790 biolink:NamedThing fatty liver disease A reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via the process of steatosis. tmpaxzxjjyw_mondo_relaxed.owl steatosis of liver|fatty change of liver|hepatic lipidosis|fatty liver UMLS:C0015696|OMIM:228100|ICD10:K70.0|SCTID:371330000|MESH:D005235|EFO:0003934|SCTID:197321007|MESH:D005234|ICD9:571.0|DOID:9452|ICD9:571.8 owl:Class MONDO:0013419 biolink:NamedThing complement component C1s deficiency A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. tmpaxzxjjyw_mondo_relaxed.owl complement component C1s deficiency|C1s deficiency|C1SD Orphanet:169147|OMIM:613783|UMLS:C3151078|MESH:C565170 owl:Class MONDO:0018777 biolink:NamedThing autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:476119|UMLS:CN776826 owl:Class HGNC:18124 biolink:NamedThing P2RY12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013837 biolink:NamedThing deafness-encephaloneuropathy-obesity-valvulopathy syndrome Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated. tmpaxzxjjyw_mondo_relaxed.owl coenzyme Q10 deficiency, primary, type 2|coenzyme Q10 deficiency, primary, 2|COQ10D2|hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome DOID:0070239|UMLS:C3553354|ICD10:E88.8|OMIM:614651|Orphanet:254898 owl:Class MONDO:0100012 biolink:NamedThing paratenonitis Inflammation of the outer layer of the tendon (paratenon) alone, whether or not the paratenon is lined by synovium. tmpaxzxjjyw_mondo_relaxed.owl 2018-07-17 16:02:16+00:00 owl:Class HP:0012444 biolink:NamedThing Brain atrophy Partial or complete wasting (loss) of brain tissue that was once present. tmpaxzxjjyw_mondo_relaxed.owl Brain degeneration|Brain wasting UMLS:C0154671|SNOMEDCT_US:52522001|SNOMEDCT_US:278849000|SNOMEDCT_US:418143002|UMLS:C0235946 peter 2013-11-23T02:46:15Z human_phenotype owl:Class HP:0007367 biolink:NamedThing Atrophy/Degeneration affecting the central nervous system tmpaxzxjjyw_mondo_relaxed.owl Atrophy/Degeneration affecting the CNS UMLS:C4024899 peter 2008-04-01T10:23:00Z human_phenotype owl:Class MONDO:0022810 biolink:NamedThing Combarros Calleja Leno syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001449 https://rarediseases.info.nih.gov/diseases/1449/combarros-calleja-leno-syndrome owl:Class MONDO:0018334 biolink:NamedThing chronic hiccup Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. tmpaxzxjjyw_mondo_relaxed.owl chronic hiccups|intractable hiccups|persistent hiccups|intractable singultus|Hiccups, intractable UMLS:C0744898|SCTID:716771000|GARD:0006657|UMLS:CN205022|Orphanet:396|HP:0100247 https://rarediseases.info.nih.gov/diseases/6657/chronic-hiccups owl:Class GO:0003411 biolink:NamedThing cell motility involved in camera-type eye morphogenesis Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another and contributes to the physical shaping or formation of the camera-type eye. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000364 biolink:NamedThing Hearing abnormality An abnormality of the sensory perception of sound. tmpaxzxjjyw_mondo_relaxed.owl Hearing abnormality|Abnormal hearing UMLS:C4025860 According to the World Health Organization, deafness refers to the complete loss of hearing ability in one or two ears. Hearing impairment refers to both complete and partial loss of the ability to hear. human_phenotype owl:Class MONDO:0009207 biolink:NamedThing factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor tmpaxzxjjyw_mondo_relaxed.owl factor 5 and Factor VIII, combined deficiency Of, with normal Protein C and Protein C inhibitor|factor V and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor Orphanet:35909|OMIM:227310|UMLS:C1856882 owl:Class MONDO:0009826 biolink:NamedThing PA polymorphism of alpha-2-globulin tmpaxzxjjyw_mondo_relaxed.owl Alpha-2-globulin polymorphism Pa|PA polymorphism of alpha-2-globulin OMIM:260100 owl:Class MONDO:0007109 biolink:NamedThing congenital dyserythropoietic anemia type 3 Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia. tmpaxzxjjyw_mondo_relaxed.owl anemia, congenital dyserythropoietic, type III|CDA III|CDA type III|CDAN3|congenital dyserythropoietic anemia type 3|CDA 3|dyserythropoietic anemia, congenital type 3|anemia with multinucleated erythroblasts|CDA type 3|Erythroreticulosis, hereditary benign|dyserythropoietic Anemia, congenital, type 3 UMLS:C0271934|Orphanet:98870|ICD10:D64.4|ICD9:285.8|DOID:0111399|SCTID:26409005|GARD:0002002|OMIM:105600 owl:Class MONDO:0023370 biolink:NamedThing neoplastic disease or syndrome Either an isolated neoplasm or a syndrome with neoplasm as a major feature. tmpaxzxjjyw_mondo_relaxed.owl neoplastic disease|neoplastic disorder owl:Class UBERON:0022284 biolink:NamedThing lacrimal gland bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000288 biolink:NamedThing polycystic echinococcosis tmpaxzxjjyw_mondo_relaxed.owl human polycystic hydatid disease|neotropical echinococcosis DOID:0050218 owl:Class MONDO:0011490 biolink:NamedThing diffuse panbronchiolitis Diffuse panbronchiolitis is a rare chronic inflammatory obstructive pulmonary disease primarily affecting the respiratory bronchioles throughout both lungs and inducing sinobronchial infection. Onset occurs in the second to fifth decade of life and manifests by chronic cough, exertional dyspnea, and sputum production. Most patients also have chronic paranasal sinusitis tmpaxzxjjyw_mondo_relaxed.owl panbronchiolitis, diffuse|DPb|PBLT Orphanet:171700|MedDRA:10062952|ICD10:J44.8|ICD9:491.8|MESH:C536174|SCTID:430476004|GARD:0008526|UMLS:C0878555|OMIM:604809 https://rarediseases.info.nih.gov/diseases/8526/diffuse-panbronchiolitis owl:Class MONDO:0012311 biolink:NamedThing spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness tmpaxzxjjyw_mondo_relaxed.owl spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness UMLS:C1865022|MESH:C566507|OMIM:609616 owl:Class MONDO:0013684 biolink:NamedThing vesicoureteral reflux 6 tmpaxzxjjyw_mondo_relaxed.owl VUR6|vesicoureteral reflux 6 UMLS:C3280441|Orphanet:289365|OMIM:614319 owl:Class UBERON:0003722 biolink:NamedThing middle cranial fossa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008889 biolink:NamedThing thromboangiitis obliterans Buerger disease, also known as thromboangiitis obliterans (TAO), is a rare inflammatory non-necrotizing vascular disease affecting the small- and medium-sized arteries and veins of the upper and lower extremities characterized by endarteritis and vaso-occlusion due to occlusive thrombus development. The development and progression of the disease is consistently associated with exposure to tobacco. tmpaxzxjjyw_mondo_relaxed.owl presenile gangrene|inflammatory occlusive peripheral vascular disease|occlusive peripheral vascular disease|BUERGER disease|thromboangiitis obliterans [Buerger's disease]|Buerger's disease|thromboangiitis obliterans|TAO SCTID:52403007|UMLS:C0040021|MedDRA:10043540|GARD:0005969|OMIM:211480|ICD9:443.1|DOID:12918|MESH:D013919|NCIT:C35070|Orphanet:36258|EFO:1001211|ICD10:I73.1 owl:Class NCBITaxon:7509 biolink:NamedThing Siphonaptera tmpaxzxjjyw_mondo_relaxed.owl fleas GC_ID:1 NCBITaxon:7510|NCBITaxon:27416 ncbi_taxonomy owl:Class MONDO:0001578 biolink:NamedThing hernia of ovary and fallopian tube tmpaxzxjjyw_mondo_relaxed.owl ICD9:620.4|ICD10:N83.4|DOID:12735 Editor note: consider obsoleting (should be finding/phenotype) owl:Class MONDO:0015275 biolink:NamedThing partial atrioventricular canal Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea. tmpaxzxjjyw_mondo_relaxed.owl partial atrioventricular septal defects|partial atrioventricular canal defect|PAVC|partial common atrioventricular canal|partial AVSD Orphanet:1330|MESH:C536112|SCTID:718216009|OMIM:600309|ICD10:Q21.2|GARD:0004229 https://rarediseases.info.nih.gov/diseases/4229/partial-atrioventricular-canal owl:Class MONDO:0020290 biolink:NamedThing atrioventricular septal defect A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves. tmpaxzxjjyw_mondo_relaxed.owl AVCD|common atrioventricular canal|endocardial cushion defect|AVSD|atrioventricular septal defect|atrioventricular canal defect|AV septal defect|common AV canal|ECD ICD9:745.60|DOID:0050651|OMIM:606217|OMIM:614430|Orphanet:98722|SCTID:15459006|ICD9:745.69|OMIM:614474|OMIM:615779|ICD9:745.6|OMIMPS:606215|GARD:0000802|OMIM:600309|OMIM:606215|ICD10:Q21.2|NCIT:C101029 owl:Class MONDO:0019451 biolink:NamedThing chronic neutrophilic leukemia A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene. tmpaxzxjjyw_mondo_relaxed.owl neutrophilic leukemia|CNL|chronic neutrophilic leukemia SCTID:188734009|NCIT:C3179|DOID:0080187|ONCOTREE:CNL|ICDO:9963/3|UMLS:C0474856|Orphanet:86829|EFO:1000179|MESH:D015467|ICD10:D47.1|UMLS:C0023481|GARD:0010585 https://rarediseases.info.nih.gov/diseases/10585/chronic-neutrophilic-leukemia owl:Class MONDO:0007414 biolink:NamedThing Gorham-Stout disease Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture. tmpaxzxjjyw_mondo_relaxed.owl osteolysis, massive|progressive massive osteolysis|cystic angiomatosis of bone, diffuse|osteolysis massive|idiopathic massive osteolysis|Gorham-Stout disease|Gorham disease|cystic angiomatosis of bone diffuse|vanishing bone disease|Gorham syndrome ICD10:M89.5|GARD:0006542|ICD9:733.99|Orphanet:73|MedDRA:10071283|SCTID:1515008|OMIM:123880 owl:Class MONDO:0044816 biolink:NamedThing familial idiopathic torsion dystonia An instance of idiopathic torsion dystonia that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl familial Idiopathic dystonia|genetic torsion dystonia|hereditary idiopathic torsion dystonia|idiopathic familial dystonia SCTID:230318005|NCIT:C35437 owl:Class GO:0120054 biolink:NamedThing intestinal motility Contractions of the intestinal tract that include peristalsis (moving contents onward) and non-peristaltic movement (moving contents back and forth). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018597 biolink:NamedThing plastic bronchitis A lymphatic flow disorder that causes severe respiratory issues. In children with plastic bronchitis, lymph fluid builds in the airways and forms rubbery or caulk-like plugs (known as casts). These casts block the airways, making it difficult to breathe. tmpaxzxjjyw_mondo_relaxed.owl fibrinous bronchitis|pseudo-membranous bronchitis|croupous bronchitis SCTID:53926002|UMLS:C0264342|Orphanet:439881 owl:Class MONDO:0033533 biolink:NamedThing combined oxidative phosphorylation deficiency 45 tmpaxzxjjyw_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45|COXPD45 OMIM:618951 owl:Class MONDO:0054565 biolink:NamedThing short-rib thoracic dysplasia 17 with or without polydactyly tmpaxzxjjyw_mondo_relaxed.owl short-rib thoracic dysplasia 17 with or without POLYDACTYLY|SRTD17 OMIM:617405 owl:Class MONDO:0016449 biolink:NamedThing mid-dermal elastolysis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:228299 owl:Class MONDO:0018927 biolink:NamedThing SUNCT syndrome SUNCT syndrome (Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing) is a primary headache disorder characterized by unilateral trigeminal pain that occurs in association with ipsilateral cranial autonomic symptoms (conjunctival injection and tearing). tmpaxzxjjyw_mondo_relaxed.owl short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing|short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing|SUNCT headache NCIT:C85174|MESH:D050798|ICD10:G44.8|MedDRA:10061981|SCTID:725058003|UMLS:C1262087|Orphanet:57145|GARD:0009257 owl:Class CL:0011019 biolink:NamedThing mesothelial cell of epicardium A mesothelial cell that is part of the epicardium. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013123 biolink:NamedThing atrial septal defect 6 Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene. tmpaxzxjjyw_mondo_relaxed.owl atrial septal defect type 6|atrial heart septal defect type 6|TLL1 atrial heart septal defect|atrial heart septal defect caused by mutation in TLL1|atrial septal defect 6|ASD6 DOID:0110111|MESH:C567764|Orphanet:1478|UMLS:C2751315|OMIM:613087|ICD10:Q21.1 owl:Class MONDO:0032865 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 tmpaxzxjjyw_mondo_relaxed.owl PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5|PFBMFT5 OMIM:618674 owl:Class UBERON:0013240 biolink:NamedThing future glans clitoris tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008848 biolink:NamedThing atrioventricular dissociation Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the sinoatrial node and the right atrium (sa block) or between atria and ventricles (av block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects. tmpaxzxjjyw_mondo_relaxed.owl A-V dissociation|atrioventricular dissociation|atrioventricular dissociation (disease) atrioventricular dissociation (disease) MESH:D006327|HP:0011709|ICD9:426.89|SCTID:50799005|OMIM:209600 owl:Class MONDO:0020457 biolink:NamedThing 6-phosphogluconate dehydrogenase deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99135|ICD10:D55.1 owl:Class MONDO:0006401 biolink:NamedThing salivary gland adenosquamous carcinoma A rare, aggressive carcinoma that arises from the salivary glands. It is characterized by the presence of a squamous and a glandular epithelial component. tmpaxzxjjyw_mondo_relaxed.owl salivary gland adenosquamous carcinoma|saliva-secreting gland adenosquamous carcinoma UMLS:C1335894|EFO:1000514|NCIT:C35737 owl:Class MONDO:0017993 biolink:NamedThing cerebral sinovenous thrombosis A rare but serious cerebrovascular disorder involving thrombosis of the cerebral venous system. It affects children from the newborn period through childhood and adolescence. In childhood CSVT, acute infections of the head and neck such as mastoiditis are most common, followed by chronic underlying diseases such as nephrotic syndrome, cancer, and inflammatory bowel disease. Signs and symptoms are also age related. Seizures and altered mental status are the commonest manifestations in newborns. Headache, vomiting, and lethargy, sometimes with 6th nerve palsy, are the most common symptoms in children and adolescents. tmpaxzxjjyw_mondo_relaxed.owl CSVT Orphanet:329217|ICD10:I67.6 owl:Class MONDO:0042484 biolink:NamedThing disseminated sporotrichosis tmpaxzxjjyw_mondo_relaxed.owl disseminated sporotrichosis UMLS:C0276725|SCTID:91051003 owl:Class MONDO:0000487 biolink:NamedThing hemidystonia A multifocal dystonia that involves the arm and leg on the same side of the body. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050846|SCTID:427232004|ICD9:333.99|UMLS:C1960561 owl:Class CHEBI:33484 biolink:NamedThing chalcogen oxoacid tmpaxzxjjyw_mondo_relaxed.owl chalcogen oxoacid|chalcogen oxoacids owl:Class MONDO:0016095 biolink:NamedThing vaginal rhabdomyosarcoma A malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina. tmpaxzxjjyw_mondo_relaxed.owl rhabdomyosarcoma (disease) of vagina|vaginal rhabdomyosarcoma|vulvovaginal rhabdomyosarcoma|vagina rhabdomyosarcoma (disease)|vagina rhabdomyosarcoma ICD10:C52|SCTID:766759009|UMLS:C4288035|Orphanet:206492|NCIT:C128080 owl:Class MONDO:0005482 biolink:NamedThing molar-incisor hypomineralization A hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors tmpaxzxjjyw_mondo_relaxed.owl ICD9:520.5|SCTID:698053001|EFO:0005321 owl:Class UBERON:0005042 biolink:NamedThing inner epithelial layer of tympanic membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006975 biolink:NamedThing smooth muscle tumor A benign or malignant myomatous neoplasm arising from smooth muscle. tmpaxzxjjyw_mondo_relaxed.owl smooth muscle tumor|neoplasm of the smooth muscle|neoplasm of smooth muscle|tumor of the smooth muscle|smooth muscle neoplasm|tumor of smooth muscle EFO:1001185|NCIT:C3751|MESH:D018235|DOID:4310|UMLS:C0206658 owl:Class MONDO:0011017 biolink:NamedThing Naxos disease Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. tmpaxzxjjyw_mondo_relaxed.owl keratosis palmoplantaris with arrhythmogenic cardiomyopathy|NAXOS disease|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair|keratosis palmoplantaris with arrythmogenic cardiomyopathy|cardiomyopathy, arrhythmogenic right ventricular, with skin, hair, and nail abnormalities|palmoplantar keratoderma with arrythmogenic cardiomyopathy|keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|woolly hair palmoplantar keratoderma cardiac abnormalities|KWWH type I|woolly hair, palmoplantar keratoderma, and Cardiac abnormalities|Mal De Naxos|keratoderma with woolly hair type I|NXD|Naxos disease DOID:0080551|MESH:C538346|UMLS:C1832600|GARD:0009795|Orphanet:34217|OMIM:601214|ICD10:Q87.8|SCTID:715535009 https://rarediseases.info.nih.gov/diseases/9795/naxos-disease owl:Class MONDO:0013205 biolink:NamedThing corneal dystrophy, fuchs endothelial, 5 tmpaxzxjjyw_mondo_relaxed.owl Fcd3 locus|corneal dystrophy, Fuchs endothelial, 5|corneal dystrophy, Fuchs endothelial, late-onset|FECD5 Orphanet:98974|OMIM:613269|UMLS:C2750449 owl:Class MONDO:0025699 biolink:NamedThing Coffin-Siris syndrome 12 tmpaxzxjjyw_mondo_relaxed.owl CSS12 OMIM:619325 owl:Class GO:0002830 biolink:NamedThing positive regulation of type 2 immune response Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of Th2 immune response|up-regulation of type 2 immune response|activation of type 2 immune response|positive regulation of T-helper 2 type immune response|upregulation of type 2 immune response|up regulation of type 2 immune response|stimulation of type 2 immune response owl:Class MONDO:0030918 biolink:NamedThing intellectual disability, autosomal dominant 52 tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant mental retardation 52|autosomal dominant intellectual disability 52|MRD52|mental retardation, autosomal dominant 52|intellectual disability, autosomal dominant 52 DOID:0080231|UMLS:CN671932|OMIM:617796|EFO:0009152 owl:Class CL:1000706 biolink:NamedThing ureter urothelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001117 cell owl:Class UBERON:0011298 biolink:NamedThing submucosa of uterine tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007485 biolink:NamedThing dyskeratosis congenita, autosomal dominant 1 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2. tmpaxzxjjyw_mondo_relaxed.owl DKCA|dyskeratosis congenita, autosomal dominant 1|DKCA1|dyskeratosis congenita Scoggins type|dyskeratosis congenita autosomal dominant|dyskeratosis congenita, Scoggins type|autosomal dominant dyskeratosis congenita 1|autosomal dominant dyskeratosis congenita|dyskeratosis congenita, autosomal dominant type 1 SCTID:707273001|MESH:C565079|Orphanet:1775|GARD:0006299|DOID:0070014|OMIM:127550 https://rarediseases.info.nih.gov/diseases/6299/dyskeratosis-congenita-autosomal-dominant owl:Class MONDO:0014619 biolink:NamedThing trichothiodystrophy 3, photosensitive tmpaxzxjjyw_mondo_relaxed.owl trichothiodystrophy, complementation group A|TTD3|trichothiodystrophy 3, photosensitive UMLS:C4017171|OMIM:616395 owl:Class MONDO:0017868 biolink:NamedThing diencephalic-mesencephalic junction dysplasia Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:319192|ICD10:Q04.8 owl:Class MONDO:0010501 biolink:NamedThing syndromic X-linked intellectual disability 34 Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked, syndromic 34|intellectual disability, X-linked, syndromic, Mircsof-Langouet type|intellectual disability, X-linked, syndromic type 34|X-linked syndromic intellectual disability caused by mutation in NONO|syndromic X-linked intellectual disability Mircsof-Langouet type|mental retardation, X-linked, syndromic 34|MRXS34|NONO X-linked syndromic intellectual disability|syndromic X-linked intellectual disability type 34|syndromic X-linked mental retardation Mircsof-Langouet type|MRXSML|mental retardation, X-linked, syndromic, Mircsof-Langouet type|macrocephaly-intellectual disability-left ventricular non compaction syndrome|mental retardation, X-linked, syndromic type 34 OMIM:300967|Orphanet:466791|DOID:0060817 owl:Class GO:0032107 biolink:NamedThing regulation of response to nutrient levels Any process that modulates the frequency, rate or extent of a response to nutrient levels. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007015 biolink:NamedThing viral meningitis Inflammation of the membranes surrounding the brain and spinal cord due to a viral infection. tmpaxzxjjyw_mondo_relaxed.owl SCTID:58170007|DOID:10310|ICD10:A87.9|ICD9:047.9|UMLS:C0025297|MESH:D008587|MedDRA:10047469|EFO:1001236|ICD10:A87|ICD9:321.2|NCIT:C118298|ICD9:047.8 owl:Class MONDO:0006662 biolink:NamedThing aseptic meningitis Inflammation of the membranes surrounding the brain and spinal cord without a bacterial pathogen. tmpaxzxjjyw_mondo_relaxed.owl acute aseptic meningitis|aseptic meningitis MedDRA:10003458|SCTID:301770000|UMLS:C0025290|NCIT:C118299|SCTID:58170007|ICD10:G03.0|DOID:12157|MESH:D008582|EFO:1000823 owl:Class MONDO:0032785 biolink:NamedThing polydactyly, postaxial, type a10 tmpaxzxjjyw_mondo_relaxed.owl PAPA10|POLYDACTYLY, POSTAXIAL, TYPE A10 OMIM:618498 owl:Class MONDO:0020927 biolink:NamedThing postaxial polydactyly tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:174200 Editor note: consider merge with MONDO:0017426 see https://github.com/monarch-initiative/mondo/issues/1346 owl:Class MONDO:0016103 biolink:NamedThing isolated asymptomatic elevation of creatine phosphokinase Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle. tmpaxzxjjyw_mondo_relaxed.owl hyperCKmia|idiopathic asymptomatic hyperCKemia|isolated asymptomatic hyperCKemia|isolated hyperCKemia Orphanet:206599|DOID:0111338|NCIT:C148327 owl:Class MONDO:0021072 biolink:NamedThing sympathetic paraganglioma A benign or malignant paraganglioma arising from the chromaffin cells of the paraganglia that are located along the sympathetic nerves. It includes extra-adrenal paragangliomas and paragangliomas that arise from the adrenal medulla. The latter are commonly referred to as pheochromocytomas. Representative examples of extra-adrenal sympathetic paragangliomas include the bladder, and superior and inferior paraaortic paragangliomas. Clinical signs are related to the secretion of catecholamines resulting in hypertension. tmpaxzxjjyw_mondo_relaxed.owl sympathetic Paraganglionic neoplasm|chromaffin tumor|Chromaffinoma|paraganglioma of sympathetic nervous system|chromaffin neoplasm|sympathetic nervous system paraganglioma|sympathetic paraganglioma ICDO:8681/1|MESH:C531777|NCIT:C4216|SCTID:399343007 owl:Class CHEBI:38716 biolink:NamedThing carboxylic acid dianion Any dianion containing at least one carboxy group. tmpaxzxjjyw_mondo_relaxed.owl carboxylic acid dianion|carboxylic acid dianions owl:Class UBERON:0009537 biolink:NamedThing vascular element of right lung tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10023 biolink:NamedThing RIT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004878 biolink:NamedThing female breast upper-outer quadrant cancer tmpaxzxjjyw_mondo_relaxed.owl SCTID:188154003|UMLS:C0153552|ICD9:174.4|ICD10:C50.41|DOID:9773 owl:Class MONDO:0019354 biolink:NamedThing Stickler syndrome Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). tmpaxzxjjyw_mondo_relaxed.owl hereditary progressive arthroophthalmopathy|Stickler syndrome OMIM:614134|MESH:C537492|SCTID:78675000|MedDRA:10063402|OMIM:609508|OMIM:604841|DOID:0080046|Orphanet:828|OMIM:614284|ICD10:Q87.0|GARD:0010782|OMIM:108300|UMLS:C0265253|ICD9:759.89|OMIM:184840|OMIMPS:108300|NCIT:C74984 Editor notes: DOID places this under AD, but this is inconsistent with MONDO:0016647 autosomal recessive Stickler syndrome owl:Class MONDO:0032752 biolink:NamedThing developmental and epileptic encephalopathy, 75 tmpaxzxjjyw_mondo_relaxed.owl DEE75|epileptic encephalopathy, early infantile, 75|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75|EIEE75 OMIM:618437 owl:Class MONDO:0001639 biolink:NamedThing deficiency anemia tmpaxzxjjyw_mondo_relaxed.owl unspecified deficiency anemia|deficiency anemias ICD9:281.8|DOID:13121|ICD9:281.9|UMLS:C0041782|SCTID:267513007 owl:Class UBERON:0010850 biolink:NamedThing tibia pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015004 biolink:NamedThing tibia endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10989 biolink:NamedThing SLC25A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000087 biolink:NamedThing polymicrogyria A developmental brain abnormality characterized by an excessive amount of small convolutions on the surface of the brain and cognitive dysfunction. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116936|MESH:D065706|ICD10:Q04.3|GARD:0012271|SCTID:4945003|UMLS:C0266464|Orphanet:35981 owl:Class MONDO:0009628 biolink:NamedThing microcolon A rare congenital abnormality characterized by the presence of an abnormally small colon. It is the result of intestinal underutilization during fetal development. tmpaxzxjjyw_mondo_relaxed.owl microcolon|microcolon (disease) microcolon (disease) OMIM:251400|ICD9:751.5|HP:0004388|SCTID:18389004|MESH:C562563|NCIT:C98987 owl:Class MONDO:0016936 biolink:NamedThing partial trisomy/tetrasomy of chromosome 18 A chromosomal disorder characterized by the presence of extra copy/copies of part of chromosome 18. tmpaxzxjjyw_mondo_relaxed.owl partial duplication/triplication of chromosome 18|partial trisomy/tetrasomy of chromosome type 18 Orphanet:262682 owl:Class MONDO:0020386 biolink:NamedThing double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis tmpaxzxjjyw_mondo_relaxed.owl double outlet right ventricle, Fallot type|DORV, Fallot type|DORV with subaortic or doubly committed VSD with pulmonary stenosis ICD10:Q21.3|ICD10:Q20.1|SCTID:253298003|Orphanet:99043 owl:Class MONDO:0030362 biolink:NamedThing Aicardi-Goutieres syndrome 9 tmpaxzxjjyw_mondo_relaxed.owl Aicardi-Goutieres syndrome 9|AGS9 OMIM:619487 owl:Class MONDO:0021472 biolink:NamedThing benign neoplasm of scrotum A benign neoplasm that involves the scrotum. tmpaxzxjjyw_mondo_relaxed.owl benign scrotal neoplasm|benign tumor of the scrotum|benign scrotal tumor|benign tumor of scrotum|scrotum benign neoplasm|benign neoplasm of the scrotum UMLS:C0154011|NCIT:C3615|SCTID:92336000|ICD9:222.4|ICD10:D29.4 owl:Class MONDO:0012669 biolink:NamedThing Legius syndrome Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling. tmpaxzxjjyw_mondo_relaxed.owl Legius syndrome|neurofibromatosis 1-like syndrome|neurofibromatosis type 1 like syndrome|neurofibromatosis type 1-like syndrome|NF1-like syndrome ICD9:709.09|UMLS:C1969623|GARD:0010714|Orphanet:137605|OMIM:611431|MESH:C548032|ICD10:Q85.0|SCTID:703541007 https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome owl:Class MONDO:0015611 biolink:NamedThing neutral lipid storage disease Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy) can be distinguished. tmpaxzxjjyw_mondo_relaxed.owl Chanarin-Dorfman syndrome|lipidosis with triglyceride storage disease|lipidosis with triglycerid storage disease GARD:0003262|Orphanet:165|DOID:0050729|ICD10:E75.5|UMLS:CN199983 Editor note: DOID:0050729 and wikipedia treat CD-syndrome and NLSD as one, but we follow orphanet is placing CD as a subtype. owl:Class MONDO:0016117 biolink:NamedThing muscular lipidosis tmpaxzxjjyw_mondo_relaxed.owl lipid storage myopathy Orphanet:206953|SCTID:240095001|ICD9:359.89|UMLS:C0410214 owl:Class NCBITaxon:43742 biolink:NamedThing Calyptratae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0042753 biolink:NamedThing positive regulation of circadian rhythm Any process that activates or increases the frequency, rate or extent of a circadian rhythm behavior. tmpaxzxjjyw_mondo_relaxed.owl up regulation of circadian rhythm|up-regulation of circadian rhythm|upregulation of circadian rhythm|stimulation of circadian rhythm|activation of circadian rhythm owl:Class UBERON:0003579 biolink:NamedThing shoulder connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2001153 biolink:NamedThing positive regulation of renal water transport Any process that activates or increases the frequency, rate or extent of renal water transport. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021337 biolink:NamedThing tonsil carcinoma A carcinoma that involves the tonsil. tmpaxzxjjyw_mondo_relaxed.owl tonsil cancer|cancer of the tonsil|carcinoma of tonsil|tonsillar cancer|cancer of tonsil|tonsil carcinoma|carcinoma of the tonsil|tonsillar carcinoma UMLS:C0558355|SCTID:274085008|NCIT:C4825 owl:Class MONDO:0001966 biolink:NamedThing chronic closed-angle glaucoma Chronic form of angle-closure glaucoma. tmpaxzxjjyw_mondo_relaxed.owl anatomical narrow angle glaucoma|chronic angle-closure glaucoma|chronic narrow angle glaucoma|angle-closure glaucoma, chronic UMLS:C0154947|ICD9:365.23|SCTID:33647009|ICD10:H40.22|DOID:14445 owl:Class CHEBI:24471 biolink:NamedThing halogen molecular entity tmpaxzxjjyw_mondo_relaxed.owl halogen compounds|halogen molecular entities|halogen molecular entity owl:Class MONDO:0011090 biolink:NamedThing isolated hereditary congenital facial paralysis Isolated hereditary congenital facial paralysis (IHCFP) is an extremely rare neurological disorder presumed to result from maldevelopment of the facial nucleus and/or cranial nerve and has been reported in fewer than 10 families to date. It manifests as non-progressive, isolated, unilateral or bilateral, symmetrical or asymmetrical facial palsy. Involvement of the branches of the facial nerve can be unequal. tmpaxzxjjyw_mondo_relaxed.owl Mobius syndrome 2 (formerly)|MBS2 (formerly)|Moebius syndrome 2 (formerly)|HCFP|facial paresis hereditary congenital|hereditary congenital facial paresis|facial paresis, hereditary congenital|facial palsy, congenital, unilateral or bilateral SCTID:733091002|OMIMPS:601471|OMIM:601471|ICD10:Q87.0|GARD:0008583|Orphanet:306527|UMLS:C4518577|MESH:C563309 https://rarediseases.info.nih.gov/diseases/8583/hereditary-congenital-facial-paresis owl:Class MONDO:0043287 biolink:NamedThing superior vena cava syndrome Obstruction of the blood flow in the superior vena cava caused by a malignant neoplasm, thrombosis, or aneurysm. It is a medical emergency requiring immediate treatment. Signs and symptoms include swelling and cyanosis of the face, neck, and upper arms, cough, orthopnea, and headache. tmpaxzxjjyw_mondo_relaxed.owl superior vena cava obstruction|superior vena cava syndrome|superior vena cava thrombosis|SVC syndrome|SVC obstruction|SVCS NCIT:C3396|GARD:0009264|MESH:D013479|SCTID:63363004 owl:Class MONDO:0004338 biolink:NamedThing retinal cell cancer tmpaxzxjjyw_mondo_relaxed.owl malignant retinal cell neoplasm|retinal cell cancer|cancer of retinal cell|malignant neoplasm of retinal cell DOID:771 owl:Class GO:1905124 biolink:NamedThing negative regulation of glucosylceramidase activity Any process that stops, prevents or reduces the frequency, rate or extent of glucosylceramidase activity. tmpaxzxjjyw_mondo_relaxed.owl downregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|negative regulation of beta-glucosylceramidase activity|downregulation of ceramide glucosidase activity|down regulation of beta-glucosylceramidase activity|downregulation of glucosylsphingosine beta-D-glucosidase activity|inhibition of glucosylsphingosine beta-D-glucosidase activity|down regulation of glucosylceramidase activity|down regulation of glucosylcerebrosidase activity|down-regulation of glucosylcerebrosidase activity|down-regulation of glucosylceramidase activity|down-regulation of beta-D-glucocerebrosidase activity|inhibition of acid beta-glucosidase activity|negative regulation of glucocerebrosidase activity|negative regulation of beta-glucocerebrosidase activity|down-regulation of beta-glucosylceramidase activity|negative regulation of glucosphingosine glucosylhydrolase activity|down regulation of GlcCer-beta-glucosidase activity|down-regulation of acid beta-glucosidase activity|downregulation of beta-D-glucocerebrosidase activity|downregulation of beta-glucocerebrosidase activity|downregulation of beta-glucosylceramidase activity|downregulation of glucosylsphingosine beta-glucosidase activity|down-regulation of ceramide glucosidase activity|downregulation of glucosylcerebrosidase activity|down regulation of glucosylsphingosine beta-glucosidase activity|down regulation of glucosylsphingosine beta-D-glucosidase activity|down regulation of psychosine hydrolase activity|down-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|inhibition of glucocerebrosidase activity|down regulation of beta-D-glucocerebrosidase activity|downregulation of glucosylceramidase activity|negative regulation of glucosylcerebrosidase activity|down regulation of ceramide glucosidase activity|down-regulation of glucocerebrosidase activity|inhibition of glucosylsphingosine beta-glucosidase activity|inhibition of beta-D-glucocerebrosidase activity|negative regulation of glucosylsphingosine beta-glucosidase activity|down-regulation of beta-glucocerebrosidase activity|down-regulation of glucosphingosine glucosylhydrolase activity|down-regulation of glucosylsphingosine beta-glucosidase activity|inhibition of glucosylcerebrosidase activity|downregulation of acid beta-glucosidase activity|inhibition of beta-glucosylceramidase activity|down regulation of glucosphingosine glucosylhydrolase activity|down-regulation of glucosylsphingosine beta-D-glucosidase activity|inhibition of glucosylceramidase activity|downregulation of psychosine hydrolase activity|downregulation of glucocerebrosidase activity|inhibition of beta-glucocerebrosidase activity|downregulation of glucosphingosine glucosylhydrolase activity|down regulation of acid beta-glucosidase activity|inhibition of GlcCer-beta-glucosidase activity|negative regulation of GCase activity|negative regulation of beta-D-glucocerebrosidase activity|negative regulation of psychosine hydrolase activity|inhibition of glucosphingosine glucosylhydrolase activity|negative regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|inhibition of ceramide glucosidase activity|down regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity|negative regulation of GlcCer-beta-glucosidase activity|negative regulation of acid beta-glucosidase activity|down regulation of beta-glucocerebrosidase activity|negative regulation of glucosylsphingosine beta-D-glucosidase activity|inhibition of D-glucosyl-N-acylsphingosine glucohydrolase activity|downregulation of GlcCer-beta-glucosidase activity|down regulation of glucocerebrosidase activity|down-regulation of psychosine hydrolase activity|down-regulation of GlcCer-beta-glucosidase activity|negative regulation of ceramide glucosidase activity|inhibition of psychosine hydrolase activity owl:Class HGNC:13743 biolink:NamedThing ALOXE3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000714 biolink:NamedThing kidney cortex collecting duct principal cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001130 cell owl:Class MONDO:0003804 biolink:NamedThing blood protein disease tmpaxzxjjyw_mondo_relaxed.owl Protein disorders, blood|blood protein disorder|disorder, blood Protein|disorders, blood Protein|blood Protein disorder|Protein disorder, blood MESH:D001796|DOID:620|UMLS:C0005830 owl:Class CHEBI:33692 biolink:NamedThing hydrides Hydrides are chemical compounds of hydrogen with other chemical elements. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004848 biolink:NamedThing respiratory system arterial endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010883 biolink:NamedThing regulation of lipid storage Any process that modulates the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. tmpaxzxjjyw_mondo_relaxed.owl regulation of lipid sequestration owl:Class MONDO:0009785 biolink:NamedThing opsismodysplasia Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl OPSISMODYSPLASIA|opsismodysplasia|OPSMD Orphanet:2746|SCTID:254068007|UMLS:C0432219|GARD:0004098|ICD10:Q78.8|OMIM:258480|MESH:C537122 https://rarediseases.info.nih.gov/diseases/4098/opsismodysplasia owl:Class UBERON:0006261 biolink:NamedThing male genital tubercle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006197 biolink:NamedThing endometrial small cell carcinoma A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically. tmpaxzxjjyw_mondo_relaxed.owl endometrium small cell carcinoma|small cell carcinoma of endometrium|endometrial small cell carcinoma DOID:7139|NCIT:C40155|EFO:1000239|UMLS:C1516858 owl:Class GO:0032411 biolink:NamedThing positive regulation of transporter activity Any process that activates or increases the activity of a transporter. tmpaxzxjjyw_mondo_relaxed.owl up regulation of transporter activity|stimulation of transporter activity|activation of transporter activity|up-regulation of transporter activity|upregulation of transporter activity owl:Class NCBITaxon:2732545 biolink:NamedThing Amarillovirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:7473 biolink:NamedThing MTRR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030837 biolink:NamedThing neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities tmpaxzxjjyw_mondo_relaxed.owl NEDMILEG OMIM:619092 owl:Class MONDO:0032770 biolink:NamedThing intellectual developmental disorder with severe speech and ambulation defects Any BAFopathy in which the cause of the disease is a mutation in the ACTL6B gene. tmpaxzxjjyw_mondo_relaxed.owl ACTL6B-related BAFopathy|INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS|IDDSSAD OMIM:618470 owl:Class MONDO:0011311 biolink:NamedThing glaucoma 1, open angle, F tmpaxzxjjyw_mondo_relaxed.owl glaucoma, primary open angle, adult-onset|glaucoma 1, open angle, type F|GLC1F|glaucoma 1, open angle, F OMIM:603383|MESH:C566383 owl:Class MONDO:0003982 biolink:NamedThing bilateral breast carcinoma Carcinoma that affects both breasts in a simultaneous or non-simultaneous manner. tmpaxzxjjyw_mondo_relaxed.owl bilateral breast carcinoma|bilateral breast cancer DOID:6741|UMLS:C0281267|NCIT:C8287 owl:Class MONDO:0012694 biolink:NamedThing Joubert syndrome 7 Any Joubert syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome 7|Joubert syndrome caused by mutation in RPGRIP1L|RPGRIP1L Joubert syndrome|Joubert syndrome type 7|JBTS7 UMLS:C1969053|OMIM:611560|Orphanet:220497|MESH:C566916|DOID:0111002 owl:Class HGNC:30032 biolink:NamedThing PACS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006875 biolink:NamedThing ocular hypertension Abnormally high intraocular pressure. tmpaxzxjjyw_mondo_relaxed.owl MESH:D009798|EFO:1001069|DOID:9282|NCIT:C3285|MedDRA:10030043|UMLS:C0028840|SCTID:4210003|ICD10:H40.05|ICD9:365.04 owl:Class MONDO:0013021 biolink:NamedThing sterile multifocal osteomyelitis with periostitis and pustulosis An autoinflammatory disease caused by mutations in the IL1RN gene, which encodes the IL1 receptor antagonist. It presents in infancy, and is characterized by systemic inflammation, pustular rash, bone pain, sterile osteitis, and periostitis. tmpaxzxjjyw_mondo_relaxed.owl osteomyelitis, STERILE multifocal, with periostitis and pustulosis|deficiency of the Interleukin-1 receptor antagonist|OMPP|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|DIRA|Interleukin 1 receptor antagonist deficiency|deficiency of interleukin-1 receptor antagonist|Interleukin-1 receptor antagonist deficiency GARD:0010516|NCIT:C119056|MESH:C557815|Orphanet:210115|UMLS:C2748507|OMIM:612852 owl:Class MONDO:0011383 biolink:NamedThing autoimmune lymphoproliferative syndrome type 2A A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma. tmpaxzxjjyw_mondo_relaxed.owl autoimmune lymphoproliferative syndrome, type IIA|autoimmune lymphoproliferative syndrome, type 2A|ALPS-CASP10|autoimmune lymphoproliferative syndrome caused by mutation in CASP10|type 2 autoimmune lymphoproliferative syndrome|type 2 ALPS|autoimmune lymphoproliferative syndrome-CASP10 variant|ALPS2A|CASP10 autoimmune lymphoproliferative syndrome|autoimmune lymphoproliferative syndrome type IIA|autoimmune lymphoproliferative syndrome, type 2 ICD10:D47.9|OMIM:603909|DOID:0110115|UMLS:C1858968|UMLS:C1519709|Orphanet:3261|MESH:C565833|NCIT:C39576 owl:Class MONDO:0009586 biolink:NamedThing mesangial sclerosis, diffuse renal, with ocular abnormalities tmpaxzxjjyw_mondo_relaxed.owl mesangial sclerosis, diffuse renal, with ocular abnormalities MESH:C565405|UMLS:C1855282|OMIM:249660 owl:Class MONDO:0030311 biolink:NamedThing combined oxidative phosphorylation deficiency 52 tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency 52|COXPD52 OMIM:619386 owl:Class UBERON:0005057 biolink:NamedThing immune organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017076 biolink:NamedThing posterior meningocele Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268810|ICD10:Q05.9|ICD10:Q05.6|ICD10:Q05.2|UMLS:CN202439|ICD10:Q05.1|ICD10:Q05.3|ICD10:Q05.8|ICD10:Q05.7|ICD10:Q05.4 owl:Class HP:0100261 biolink:NamedThing Abnormal tendon morphology An abnormality of the structure or form of the tendons, also often called sinews. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the sinew|Abnormal shape of tendon UMLS:C4021026 A tendon (or sinew) is a tough band of fibrous connective tissue that usually connects muscle to bone and is capable of withstanding tension. Tendons are similar to ligaments and fascia as they are all made of collagen except that ligaments join one bone to another bone, and fascia connect muscles to other muscles. Tendons and muscles work together and can only exert a pulling force. doelkens 2010-07-20T01:20:19Z human_phenotype owl:Class MONDO:0018954 biolink:NamedThing Loeys-Dietz syndrome Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum. tmpaxzxjjyw_mondo_relaxed.owl aortic aneurysm syndrome due to TGF-beta receptors anomalies|aortic aneurysm syndrome, Loeys-Dietz type|Loeys-Dietz syndrome ICD10:Q87.4|GARD:0010788|MESH:D055947|OMIM:613795|OMIM:614816|OMIMPS:609192|Orphanet:60030|ICD9:759.89|DOID:0050466|OMIM:610168|UMLS:C2697932|SCTID:446263001|NCIT:C75006|OMIM:609192 owl:Class CHEBI:36683 biolink:NamedThing organochlorine compound An organochlorine compound is a compound containing at least one carbon-chlorine bond. tmpaxzxjjyw_mondo_relaxed.owl an organochlorine molecule|organochlorine compounds|organochloride|organochloride compounds|organochlorine compound|organochloride compound|chlororganische Verbindungen|chloroorganic compounds|organochlorides owl:Class CHEBI:35724 biolink:NamedThing carbohydrate sulfate tmpaxzxjjyw_mondo_relaxed.owl carbohydrate sulphates|carbohydrate sulfates owl:Class MONDO:0016053 biolink:NamedThing isolated cerebellar vermis hypoplasia Isolated cerebellar vermis hypoplasia is a rare, non-syndromic cerebellar malformation characterized by an underdeveloped cerebellar vermis. Patients may present a variable phenotype ranging from normal neurodevelopment to motor and/or language delay, variable degrees of cognitive impairment, hypotonia, equilibrium disturbances, static/dynamic ataxia, oculomotor abnormalities, epilepsy and/or clumsiness. Behavioral disorders such as attention deficit hyperactivity disorder and generalized anxiety have also been reported. Brain MRI may reveal diffuse or selective (mostly posterior) vermian cerebellar hypoplasia and EEG may show focal paroxysms. tmpaxzxjjyw_mondo_relaxed.owl SCTID:766709000|Orphanet:199630|ICD10:Q04.3 owl:Class MONDO:0020130 biolink:NamedThing malformation of the cerebellar vermis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98514 owl:Class NCBITaxon:426442 biolink:NamedThing Ixodinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6939 biolink:NamedThing Ixodidae tmpaxzxjjyw_mondo_relaxed.owl hardbacked ticks|hard ticks|scale ticks GC_ID:1 ncbi_taxonomy owl:Class CL:0000293 biolink:NamedThing structural cell A cell whose primary function is to provide structural support, to provide strength and physical integrity to the organism. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0018045 biolink:NamedThing Hoyeraal-Hreidarsson syndrome Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. tmpaxzxjjyw_mondo_relaxed.owl Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia|progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome|Hoyeraal Hreidarsson syndrome ICD10:D61.0|SCTID:707276009|Orphanet:3322|MESH:C536068|OMIM:616553|OMIM:616353|OMIM:305000|OMIM:613990|GARD:0000346|UMLS:C1846142|OMIM:615190|OMIM:613989 owl:Class MONDO:0014234 biolink:NamedThing reticulate acropigmentation of Kitamura A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. tmpaxzxjjyw_mondo_relaxed.owl RAPK|reticulate acropigmentation of Kitamura|RAK|acropigmentatio reticularis|Kitamura reticulate acropigmentation|reticulate pigmentation of Kitamura Orphanet:178307|OMIM:615537|SCTID:239133004|ICD10:L81.8|MESH:C562924|ICD9:709.09|DOID:0060258 owl:Class HGNC:4336 biolink:NamedThing GLUD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009109 biolink:NamedThing lysinuric protein intolerance Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. tmpaxzxjjyw_mondo_relaxed.owl dibasic amino aciduria 2|lysinuric PROTEIN intolerance|Dibasicamino aciduria II|lysinuric protein intolerance|hyperdibasic aminoaciduria type 2|dibasic aminoaciduria 2|hyperdibasic aminoaciduria|LPI|dibasic amino aciduria II GARD:0003335|ICD9:270.8|GARD:0001853|ICD10:E72.0|UMLS:C0268647|MESH:C562687|DOID:0060439|OMIM:222700|Orphanet:470|NCIT:C121563|MedDRA:10058300|SCTID:303852004 https://rarediseases.info.nih.gov/diseases/3335/lysinuric-protein-intolerance|https://rarediseases.info.nih.gov/diseases/1853/dibasic-aminoaciduria-2 owl:Class MONDO:0004407 biolink:NamedThing stroma-dominant and stroma-poor composite ganglioneuroblastoma A neuroblastic tumor characterized by the presence of a ganglioneuroblastoma component and the formation of Schwannian stroma which is the predominant component of the tumor volume. tmpaxzxjjyw_mondo_relaxed.owl composite ganglioneuroblastoma, Stroma-dominant and Stroma-poor DOID:7949|NCIT:C42060|UMLS:C1516761 owl:Class CL:0000412 biolink:NamedThing polyploid cell A cell whose nucleus, or nuclei, each contain more than two haploid genomes. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0013547 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency nuclear type 3 Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3|mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E|mitochondrial complex V (ATP synthase) deficiency, nuclear type 3|ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency|MC5DN3|mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type ICD10:E88.8|OMIM:614053|UMLS:C3279708|Orphanet:254913|DOID:0060332 owl:Class MONDO:0022942 biolink:NamedThing deafness mesenteric diverticula of small bowel neuropathy tmpaxzxjjyw_mondo_relaxed.owl GARD:0001693 https://rarediseases.info.nih.gov/diseases/1693/deafness-mesenteric-diverticula-of-small-bowel-neuropathy owl:Class HP:0008373 biolink:NamedThing Puberty and gonadal disorders tmpaxzxjjyw_mondo_relaxed.owl Puberty and gonadal disorders UMLS:C4024685 peter 2008-04-04T12:35:00Z HP:0000827 human_phenotype owl:Class CL:0000642 biolink:NamedThing folliculostellate cell A supportive cell of the vertebrate pituitary that provides macromolecular transport and secretes hormones. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class GO:0060078 biolink:NamedThing regulation of postsynaptic membrane potential Any process that modulates the potential difference across a post-synaptic membrane. tmpaxzxjjyw_mondo_relaxed.owl regulation of post-synaptic membrane potential owl:Class CHEBI:50967 biolink:NamedThing non-covalently-bound molecular entity Systems consisting of two or more molecular entities held together by non-covalent interactions. tmpaxzxjjyw_mondo_relaxed.owl non-covalently-bound molecular entities owl:Class GO:1904319 biolink:NamedThing negative regulation of smooth muscle contraction involved in micturition Any process that stops, prevents or reduces the frequency, rate or extent of smooth muscle contraction involved in micturition. tmpaxzxjjyw_mondo_relaxed.owl downregulation of urinary bladder smooth muscle contraction involved in micturition|negative regulation of smooth muscle contraction involved in urination|downregulation of smooth muscle contraction involved in micturition|down-regulation of smooth muscle contraction involved in urination|downregulation of smooth muscle contraction involved in urination|inhibition of urinary bladder smooth muscle contraction involved in micturition|down-regulation of smooth muscle contraction involved in micturition|inhibition of smooth muscle contraction involved in micturition|down regulation of smooth muscle contraction involved in urination|negative regulation of urinary bladder smooth muscle contraction involved in micturition|inhibition of smooth muscle contraction involved in urination|down regulation of smooth muscle contraction involved in micturition|down-regulation of urinary bladder smooth muscle contraction involved in micturition|down regulation of urinary bladder smooth muscle contraction involved in micturition owl:Class MONDO:0013848 biolink:NamedThing dilated cardiomyopathy 2B Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, 2B|cardiomyopathy, dilated, type 2B|dilated cardiomyopathy 2B|CMD2B|familial isolated dilated cardiomyopathy caused by mutation in GATAD1|GATAD1 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 2B OMIM:614672|UMLS:C3553409|DOID:0110441|Orphanet:154|ICD10:I42.0 owl:Class MONDO:0019882 biolink:NamedThing distal trisomy 8q Distal trisomy 8q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 8, with a highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, short stature, craniofacial dysmorphism (microcephaly, prominent forehead, hypertelorism, abnormal palpebral fissures, low-set, large ears, anteverted tip of nose, micro/retrognathia), congenital heart defects and skeletal and limb anomalies. Other reported features include ophthalmologic abnormalities (e.g. megalocornea), cryptorchidism, hypertrichosis, and neurologic manifestations (e.g. hypotonia, hearing loss, and seizures). tmpaxzxjjyw_mondo_relaxed.owl trisomy 8qter|distal duplication 8q|distal trisomy type 8q|telomeric duplication 8q Orphanet:96100|ICD10:Q92.3|SCTID:763277009 owl:Class MONDO:0013288 biolink:NamedThing agammaglobulinemia 3, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79A gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal agammaglobulinemia caused by mutation in CD79A|AGM3|agammaglobulinemia 3, autosomal recessive|CD79A autosomal agammaglobulinemia|agammaglobulinemia, autosomal recessive, due to Cd79A defect UMLS:C3150751|Orphanet:33110|OMIM:613501|Orphanet:229717 owl:Class HGNC:7165 biolink:NamedThing MMP19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002460 biolink:NamedThing lacrimal system cancer A cancer that involves the lacrimal apparatus. tmpaxzxjjyw_mondo_relaxed.owl tumor of lacrimal system|malignant neoplasm of lacrimal apparatus|malignant lacrimal apparatus neoplasm|neoplasm of the lacrimal system|neoplasm of lacrimal system|lacrimal system tumor|lacrimal apparatus cancer|lacrimal system neoplasm|tumor of the lacrimal system|cancer of lacrimal apparatus|lacrimal system neoplasms DOID:292|SCTID:416510003|NCIT:C5102|UMLS:C1334361 owl:Class HP:0031653 biolink:NamedThing Abnormal heart valve physiology Any functional abnormality of a cardiac valve. tmpaxzxjjyw_mondo_relaxed.owl 2017-12-17 15:21:49+00:00 peter human_phenotype owl:Class UBERON:0001233 biolink:NamedThing right adrenal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:46682 biolink:NamedThing Heterakoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6249 biolink:NamedThing Ascaridomorpha tmpaxzxjjyw_mondo_relaxed.owl Ascaridida GC_ID:1 NCBITaxon:33255 ncbi_taxonomy owl:Class MONDO:0030924 biolink:NamedThing proteasome-associated autoinflammatory syndrome 5 tmpaxzxjjyw_mondo_relaxed.owl PRAAS5|proteasome-associated autoinflammatory syndrome 5 OMIM:619175 owl:Class MONDO:0018170 biolink:NamedThing idiopathic nephrotic syndrome Nephrotic syndrome for which no cause has been identified. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3496337|NCIT:C122796|Orphanet:357502 owl:Class MONDO:0007572 biolink:NamedThing primary familial polycythemia due to EPO receptor mutation Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels. tmpaxzxjjyw_mondo_relaxed.owl familial erythrocytosis type 1|familial polycythemia caused by mutation in EPOR|familial erythrocytosis, 1|congenital erythrocytosis due to erythropoietin receptor mutation|erythrocytosis familial, 1|ECYT1|familial erythrocytosis|PFCP|polycythemia, primary familial and congenital|erythrocytosis, familial, 1|autosomal dominant benign erythrocytosis|primary familial polycythemia|congenital polycythemia due to erythropoietin receptor mutation|erythrocytosis autosomal dominant benign|familial erythrocytosis 1|primary familial and congenital polycythemia|EPOR familial polycythemia|primary congenital erythrocytosis|erythrocytosis, autosomal dominant benign|erythrocytosis, familial, type 1 ICD9:289.6|ICD10:D75.0|DOID:0060652|GARD:0009843|SCTID:17342003|OMIM:133100|Orphanet:90042 Editor note: check relation to familial polycythemia https://rarediseases.info.nih.gov/diseases/9843/familial-erythrocytosis-1 owl:Class MONDO:0001115 biolink:NamedThing familial polycythemia Polycythemia that occurs in groups of related individuals. tmpaxzxjjyw_mondo_relaxed.owl primary polycythemia|erythrocytosis, familial|familial polycythemia|hereditary polycythemia (disease) DOID:10780|OMIMPS:133100|ICD10:D75.0|ICD9:289.6|NCIT:C26955|SCTID:17342003 owl:Class MONDO:0019862 biolink:NamedThing levocardia A condition where the heart is in the correct anatomic position but some or all of the other thoracoabdominal viscera are in the opposite lateral orientation. tmpaxzxjjyw_mondo_relaxed.owl Isolated levocardia with situs inversus|Situs inversus with levocardia|levocardia-situs inversus UMLS:C0023569|NCIT:C111647|ICD10:Q24.1|MESH:D007979|SCTID:205769006|MedDRA:10071015|Orphanet:95854|GARD:0012032 owl:Class MONDO:0020408 biolink:NamedThing complete atrioventricular canal-tetralogy of fallot syndrome tmpaxzxjjyw_mondo_relaxed.owl CAVC-Fallot tetralogy syndrome|CAVC type C|complete atrioventricular canal type C UMLS:CN207280|ICD10:Q21.2|Orphanet:99068 owl:Class MONDO:0015273 biolink:NamedThing complete atrioventricular canal Complete atrioventricular canal (CAVC), also referred to as complete atrioventricular septal defect, is characterized by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow. tmpaxzxjjyw_mondo_relaxed.owl CAVC|complete atrioventricular septal defect|common atrioventricular canal MESH:C535974|SCTID:360481003|Orphanet:1329|ICD10:Q21.2|GARD:0001454|ICD9:745.69 https://rarediseases.info.nih.gov/diseases/1454/complete-atrioventricular-canal owl:Class MONDO:0008361 biolink:NamedThing radius, aplasia of, with cleft lip/palate tmpaxzxjjyw_mondo_relaxed.owl radius, aplasia of, with cleft lip/palate UMLS:C1867395|OMIM:179400 owl:Class MONDO:0018072 biolink:NamedThing persistent truncus arteriosus A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death. tmpaxzxjjyw_mondo_relaxed.owl TAC|persistent truncus arteriosus|common arterial trunk|truncus arteriosus|common aorticopulmonary trunk|common truncus arteriosus|persistent truncus arteriosus (disease) persistent truncus arteriosus (disease) ICD10:Q20.0|NCIT:C98880|Orphanet:3384|GARD:0007375|OMIM:217095 owl:Class HP:0040214 biolink:NamedThing Abnormal insulin level An abnormal concentration of insulin in the body. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4073160 human_phenotype owl:Class UBERON:0009758 biolink:NamedThing abdominal ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007134 biolink:NamedThing trunk ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0700019 biolink:NamedThing chromosome 12 disorder Chromosomal disorder in which chromosome 12 is affected. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0012935 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl leukemia, chronic lymphocytic, susceptibility to, 4|Clls4|leukemia, chronic lymphocytic, susceptibility to, type 4 OMIM:612558|Orphanet:67038 owl:Class HGNC:11641 biolink:NamedThing TCF7L2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016155 biolink:NamedThing qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan tmpaxzxjjyw_mondo_relaxed.owl secondary dystroglycanopathy|secondary alpha-dystroglycanopathy Orphanet:207113 owl:Class MONDO:0006229 biolink:NamedThing gastric small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells. tmpaxzxjjyw_mondo_relaxed.owl small cell carcinoma of stomach|gastric small cell carcinoma|small cell carcinoma of the stomach|Oat cell carcinoma of the stomach|stomach small cell carcinoma|STSC|Oat cell carcinoma of stomach|gastric Oat cell carcinoma|gastric small cell neuroendocrine carcinoma EFO:1000277|UMLS:C1333788|NCIT:C6764|ONCOTREE:STSC|DOID:6552 owl:Class MONDO:0007717 biolink:NamedThing hemoglobin--variants for which the chain carrying the mutation 1S unknown or uncertain tmpaxzxjjyw_mondo_relaxed.owl HEMOGLOBIN--variants FOR which the chain carrying the mutation IS unknown or uncertain OMIM:142309|UMLS:C1840647 owl:Class MONDO:0015877 biolink:NamedThing malformative syndrome with dentinogenesis imperfecta tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN200485|Orphanet:180766 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class FOODON:03400306 biolink:NamedThing nut or seed product (us cfr) tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0306 http://langual.org owl:Class MONDO:0004534 biolink:NamedThing microglandular adenosis of breast A rare variant of breast adenosis characterized by the proliferation of small round glands in a collagenous stroma. The epithelial cells are cuboidal and there are no myopepithelial cells present. There is no evidence of atypia. tmpaxzxjjyw_mondo_relaxed.owl microglandular adenosis of the breast|breast microglandular adenosis UMLS:C1334753|NCIT:C5199|DOID:8335 owl:Class UBERON:0005076 biolink:NamedThing hindbrain-spinal cord boundary tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032831 biolink:NamedThing pontocerebellar hypoplasia, type 13 tmpaxzxjjyw_mondo_relaxed.owl PONTOCEREBELLAR HYPOPLASIA, TYPE 13|PCH13 OMIM:618606 owl:Class UBERON:0010187 biolink:NamedThing female urethral gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014638 biolink:NamedThing Fanconi anemia complementation group T Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene. tmpaxzxjjyw_mondo_relaxed.owl Fanconi Anemia, complementation group type T|UBE2T Fanconi anemia|Fanconi anemia caused by mutation in UBE2T|FANCT|Fanconi anemia complementation group type T|Fanconi anemia, complementation group T OMIM:616435|UMLS:C4084840|DOID:0111081 owl:Class MONDO:0006561 biolink:NamedThing eyelid hypopigmentation Under-production of pigment in the eyelid. tmpaxzxjjyw_mondo_relaxed.owl hypopigmentation of eyelid SCTID:68210006|EFO:1000713|ICD10:H02.73|UMLS:C0155212|ICD9:374.53|DOID:11668 owl:Class NCBITaxon:11079 biolink:NamedThing Murray Valley encephalitis virus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0140056 biolink:NamedThing organelle localization by membrane tethering The process by which an organelle membrane interacts with another membrane via molecular tethers that physically bridge the two membranes and attach them to each other. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0022406 biolink:NamedThing membrane docking The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. tmpaxzxjjyw_mondo_relaxed.owl membrane docking owl:Class HGNC:29502 biolink:NamedThing PJVK tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:10319 biolink:NamedThing Varicellovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0002630 biolink:NamedThing Fat malabsorption Abnormality of the absorption of fat from the gastrointestinal tract. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:197494007|UMLS:C0554103 human_phenotype owl:Class HP:0002024 biolink:NamedThing Malabsorption Impaired ability to absorb one or more nutrients from the intestine. tmpaxzxjjyw_mondo_relaxed.owl Malabsorption|Intestinal malabsorption UMLS:C3714745 HP:0008270 human_phenotype owl:Class HGNC:8125 biolink:NamedThing OGG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904478 biolink:NamedThing regulation of intestinal absorption Any process that modulates the frequency, rate or extent of intestinal absorption. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023910 biolink:NamedThing Martsolf syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:212720 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0003084 biolink:NamedThing uremic neuropathy Neuropathy resulting from uremia. tmpaxzxjjyw_mondo_relaxed.owl DOID:4675|UMLS:C0268708|SCTID:11659006|ICD9:357.4|NCIT:C27055 owl:Class MONDO:0007008 biolink:NamedThing uremia A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of renal insufficiency. Most uremic toxins are end products of protein or nitrogen catabolism, such as urea or creatinine. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms. tmpaxzxjjyw_mondo_relaxed.owl uremia of renal origin ICD10:N19|MedDRA:10046369|UMLS:C0041948|EFO:1001226|DOID:4676|MESH:D014511|SCTID:44730006 owl:Class MONDO:0020231 biolink:NamedThing cardiac disease with cataract tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN207059|Orphanet:98647 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: heart disease' MONDO_0005267 owl:Class GO:0009199 biolink:NamedThing ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl ribonucleoside triphosphate metabolism owl:Class MONDO:0014052 biolink:NamedThing congenital myasthenic syndrome 8 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene. tmpaxzxjjyw_mondo_relaxed.owl congenital myasthenic syndrome type 8|congenital myasthenic syndrome 8 with pre- and postsynaptic defects|myasthenic syndrome, congenital, with Pre- and postsynaptic defects|CMS8|myasthenic syndrome, congenital, due to agrin deficiency|congenital myasthenic syndrome caused by mutation in AGRN|congenital myasthenic syndrome due to agrin deficiency|AGRN congenital myasthenic syndrome|myasthenic syndrome, congenital, 8|myasthenic syndrome, congenital, type 8|congenital myasthenic syndrome 8 DOID:0110657|OMIM:615120|UMLS:C3808739|Orphanet:98914|Orphanet:590 owl:Class GO:0042359 biolink:NamedThing vitamin D metabolic process The chemical reactions and pathways involving vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpaxzxjjyw_mondo_relaxed.owl ergocalciferol metabolic process|calciferol metabolic process|vitamin D metabolism|cholecalciferol metabolism|calciferol metabolism|ergocalciferol metabolism|cholecalciferol metabolic process owl:Class GO:0045844 biolink:NamedThing positive regulation of striated muscle tissue development Any process that activates or increases the frequency, rate or extent of striated muscle development. tmpaxzxjjyw_mondo_relaxed.owl upregulation of striated muscle development|activation of striated muscle development|up regulation of striated muscle development|stimulation of striated muscle development|up-regulation of striated muscle development owl:Class FOODON:03420237 biolink:NamedThing floret or flower The pigmented blossom of a plant that contains the reproductive organs; a floret is a single flower of a multiple flowered inflorescence. Also includes flower buds. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046878 biolink:NamedThing positive regulation of saliva secretion Any process that activates or increases the frequency, rate or extent of the regulated release of saliva. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of saliva secretion|up regulation of saliva secretion|activation of saliva secretion|upregulation of saliva secretion|stimulation of saliva secretion owl:Class HGNC:9455 biolink:NamedThing PROP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014776 biolink:NamedThing spinocerebellar ataxia type 42 tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia 42|spinocerebellar ataxia type 42|SCA42 DOID:0111742|OMIM:616795|ICD10:G11.8|UMLS:C4225205|NCIT:C171269|EFO:0009059|Orphanet:458803 owl:Class MONDO:0033809 biolink:NamedThing isolated blepharochalasis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:519390 owl:Class GO:0036293 biolink:NamedThing response to decreased oxygen levels Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting a decline in the level of oxygen. tmpaxzxjjyw_mondo_relaxed.owl response to lowered oxygen levels owl:Class GO:0042632 biolink:NamedThing cholesterol homeostasis Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl regulation of cholesterol homeostasis|positive regulation of cholesterol homeostasis owl:Class GO:0055092 biolink:NamedThing sterol homeostasis Any process involved in the maintenance of an internal steady state of sterol within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:12059 biolink:NamedThing Enterovirus tmpaxzxjjyw_mondo_relaxed.owl Enteroviruses GC_ID:1 NCBITaxon:12128 ncbi_taxonomy owl:Class HGNC:24154 biolink:NamedThing BMPER tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:23056 biolink:NamedThing ALG3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0000252 biolink:NamedThing rRNA rRNA is an RNA component of a ribosome that can provide both structural scaffolding and catalytic activity. tmpaxzxjjyw_mondo_relaxed.owl INSDC_qualifier:unknown|INSDC_feature:rRNA|ribosomal RNA|ribosomal ribonucleic acid owl:Class HP:0001889 biolink:NamedThing Megaloblastic anemia Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). tmpaxzxjjyw_mondo_relaxed.owl Megaloblastic anaemia MSH:D000749|UMLS:C0002888|SNOMEDCT_US:53165003 Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis. HP:0004858 human_phenotype owl:Class HP:0001972 biolink:NamedThing Macrocytic anemia A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). tmpaxzxjjyw_mondo_relaxed.owl Macrocytic anaemia UMLS:C0002886|MSH:D000748|SNOMEDCT_US:83414005 The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes. human_phenotype owl:Class GO:1902573 biolink:NamedThing positive regulation of serine-type peptidase activity Any process that activates or increases the frequency, rate or extent of serine-type peptidase activity. tmpaxzxjjyw_mondo_relaxed.owl upregulation of serine protease activity|activation of serine protease activity|upregulation of serine-type peptidase activity|positive regulation of serine protease activity|activation of serine-type peptidase activity|up regulation of serine-type peptidase activity|up-regulation of serine protease activity|up regulation of serine protease activity|up-regulation of serine-type peptidase activity owl:Class MONDO:0006995 biolink:NamedThing tethered spinal cord syndrome A progressive neurological disorder characterized by the limitation of movement of the spinal cord within the spine. It is caused by the presence of congenital or acquired tissue attachments in the spinal cord. Signs and symptoms include low back pain, scoliosis, weakness in the legs, and incontinence. tmpaxzxjjyw_mondo_relaxed.owl spinal cord syndrome|tethered cord ICD9:741|ICD10:Q05|DOID:1089|ICD10:Q05.9|EFO:1001210|SCTID:249491000119100|ICD9:756.19|NCIT:C99080 owl:Class FOODON:03411607 biolink:NamedThing nut or edible seed producing plant tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0010006 biolink:NamedThing cardiac blood vessel endothelial cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5008 biolink:NamedThing HMGCS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020650 biolink:NamedThing germ cell tumor of the vulva tmpaxzxjjyw_mondo_relaxed.owl ONCOTREE:VGCT owl:Class GO:1990904 biolink:NamedThing ribonucleoprotein complex A macromolecular complex that contains both RNA and protein molecules. tmpaxzxjjyw_mondo_relaxed.owl RNA-protein complex|ribonucleoprotein complex|intracellular ribonucleoprotein complex|extracellular ribonucleoprotein complex|protein-RNA complex|RNP owl:Class HGNC:21497 biolink:NamedThing ACAD9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016889 biolink:NamedThing partial deletion of the short arm of chromosome 7 Chromosome 7p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 7. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 7p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl chromosome 7p deletion|7p monosomy|deletion 7p|partial monosomy 7p|monosomy 7p|partial monosomy of chromosome 7p|7p deletion|partial monosomy of the short arm of chromosome 7|partial deletion of the short arm of chromosome type 7|partial deletion of chromosome 7p ICD10:Q93.5|GARD:0001346|Orphanet:261911 owl:Class HGNC:27375 biolink:NamedThing MSRB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005110 biolink:NamedThing idiopathic cardiomyopathy A disease of the heart muscle or myocardium proper whose cause is unknown. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C53654|EFO:0000767 owl:Class MONDO:0011441 biolink:NamedThing complex regional pain syndrome type 1 Complex regional pain syndrome type 1 (CRPS1) is a form of complex regional pain syndrome in which the pain is disproportionate to any known inciting event and is characterized by continuous pain, allodynia, or hyperalgesia as well as edema, coloration (changes in skin blood flow), or abnormal sudomotor activity in the region of pain. Onset of CRPS1 symptoms may occur within a few days to a month after an injury or trauma to the affected limb. tmpaxzxjjyw_mondo_relaxed.owl RSDS|reflex neurovascular dystrophy|RND|Complex regional pain syndrome I|Algodystrophy|CRPS1|reflex sympathetic dystrophy syndrome|CRPS I|complex regional pain syndrome type 1|reflex sympathetic dystrophy MESH:D012019|MedDRA:10064334|ICD9:337.20|MedDRA:10038249|UMLS:C0034931|ICD9:337.21|EFO:1001147|ICD9:337.29|ICD10:G90.5|ICD10:M89.0|NCIT:C85042|Orphanet:83452|OMIM:604335|ICD9:733.7|DOID:1811|SCTID:50642008|Orphanet:99995|ICD9:337.2 owl:Class GO:0002695 biolink:NamedThing negative regulation of leukocyte activation Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte activation. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of immune cell activation|negative regulation of leucocyte activation|inhibition of leukocyte activation|downregulation of leukocyte activation|down-regulation of leukocyte activation|down regulation of leukocyte activation owl:Class MONDO:0021804 biolink:NamedThing silicotuberculosis Tuberculosis caused by the infection of Mycobacterium tuberculosis in patients with silicosis (that is caused by inhalation of silica dust particles). The risk of a patient with silicosis developing pulmonary tuberculosis and extra-pulmonary tuberculosis is higher than in healthy population. tmpaxzxjjyw_mondo_relaxed.owl silicotuberculosis|silicotuberculoses UMLS:C0037118|ICD9:502|SCTID:233763009|MESH:D012830 owl:Class MONDO:0044690 biolink:NamedThing optic perineuritis tmpaxzxjjyw_mondo_relaxed.owl OPN SCTID:713417000|UMLS:C4076165|Orphanet:499107 owl:Class NCBITaxon:426441 biolink:NamedThing Amblyomminae tmpaxzxjjyw_mondo_relaxed.owl Eschatocephalinae GC_ID:1 ncbi_taxonomy owl:Class UBERON:0015024 biolink:NamedThing manual digit phalanx endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018902 biolink:NamedThing hepatocellular adenoma A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use. tmpaxzxjjyw_mondo_relaxed.owl LIAD|HCA|adenoma of liver cells|hepatocellular adenoma|adenoma, hepatocellular, benign|adenoma of the liver cells|liver cell adenoma OMIM:114550|OMIM:142330|NCIT:C3758|ONCOTREE:LIAD|MESH:D018248|Orphanet:54272|UMLS:C0206669|MedDRA:10019827|ICD10:D13.4|DOID:0050868|EFO:0000762|ICDO:8170/0 owl:Class MONDO:0003260 biolink:NamedThing adult cerebellar neoplasm A cerebellar neoplasm that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of adult cerebellum|tumor of adult cerebellum|tumor of the adult cerebellum|adult cerebellar tumor|neoplasm of the adult cerebellum|cerebellar neoplasm of adults|adult cerebellar tumors|adult cerebellar neoplasms|adult cerebellar neoplasm NCIT:C5968|UMLS:C1332197|DOID:5056 owl:Class GO:0010795 biolink:NamedThing regulation of ubiquinone biosynthetic process Any process that modulates the frequency, rate or extent of ubiquinone biosynthesis. Ubiquinone biosynthesis consists of the chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008232 biolink:NamedThing phagocytosis, plasma-related defect 1N tmpaxzxjjyw_mondo_relaxed.owl phagocytosis, plasma-related defect type 1N|phagocytosis, plasma-RELATED defect IN OMIM:171100|MESH:C566808|UMLS:C1868402 owl:Class CL:0002457 biolink:NamedThing epidermal Langerhans cell A Langerhans cell that is in the epidermis and is CD45-positive, MHCII-positive, and CD11b-positive. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-11-22T03:57:57Z cell owl:Class MONDO:0021444 biolink:NamedThing benign neoplasm of large intestine A benign neoplasm that involves the large intestine. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of large bowel|benign colorectal neoplasms|large intestine benign neoplasm|benign colorectal tumors|benign tumor of large intestine|neoplasms, colorectal, benign|benign large intestine neoplasm|benign tumor of the large intestine|tumors, colorectal, benign|colorectal neoplasms, benign|benign neoplasm of the large bowel|colorectal tumors, benign|benign tumor of the large bowel|benign tumor of large bowel|benign large intestine tumor|benign large bowel tumor|benign colorectal neoplasm|benign colorectal tumor|benign neoplasm of the large intestine|benign large bowel neoplasm UMLS:C0347272|SCTID:92170008|NCIT:C4610 owl:Class UBERON:0036441 biolink:NamedThing wall of uterine tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C125581 biolink:NamedThing Pathology Result tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012681 biolink:NamedThing febrile seizures, familial, 7 tmpaxzxjjyw_mondo_relaxed.owl FEB7|febrile seizures, familial, 7|febrile convulsions, familial, 7 DOID:0111311|OMIM:611515|MESH:C566929|UMLS:C1969087 owl:Class HGNC:2625 biolink:NamedThing CYP2D6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012904 biolink:NamedThing epilepsy, progressive myoclonic, 1B Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the PRICKLE1 gene. tmpaxzxjjyw_mondo_relaxed.owl progressive myoclonic epilepsy caused by mutation in PRICKLE1|epilepsy, progressive myoclonic, 1B|epilepsy, progressive myoclonic, type 1B|PRICKLE1 progressive myoclonic epilepsy|EPM1B OMIM:612437|DOID:0111448|SCTID:702326000|Orphanet:308|ICD9:345.10|MESH:C580388|UMLS:C2676254 owl:Class GO:0016684 biolink:NamedThing oxidoreductase activity, acting on peroxide as acceptor Catalysis of an oxidation-reduction (redox) reaction in which the peroxide group acts as a hydrogen or electron acceptor. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044719 biolink:NamedThing erythema multiforme major A severe, sometimes life-threatening, form of erythema multiforme. It is considered to be a hypersensitivity skin reaction triggered by a variety of stimuli, including infections and medication. It is characterized by raised, edematous papules in the extremities; involvement of one or more mucous membranes; and epidermal detachment involving less than ten percent of the total body surface area. tmpaxzxjjyw_mondo_relaxed.owl erythema multiforme majus|erythema exsudativum multiforme majus NCIT:C3385|Orphanet:502499 owl:Class CHEBI:27638 biolink:NamedThing cobalt atom A cobalt group element atom that has atomic number 27. tmpaxzxjjyw_mondo_relaxed.owl 27Co|cobalt|Co|cobaltum|Kobalt|cobalto|Cobalt owl:Class CHEBI:88184 biolink:NamedThing metal allergen Any metal which causes the onset of an allergic reaction. tmpaxzxjjyw_mondo_relaxed.owl allergenic metal|metal allergens|allergenic metals owl:Class MONDO:0018460 biolink:NamedThing Eales disease Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss. tmpaxzxjjyw_mondo_relaxed.owl idiopathic recurrent vitreal hemorrhage|idiopathic retinal perivasculitis|idiopathic obliterative vasculopathy|idiopathic retinal vasculitis MESH:C538011|SCTID:54122009|UMLS:C0271073|Orphanet:40923|ICD10:H35.0|MedDRA:10057429|GARD:0006309 https://rarediseases.info.nih.gov/diseases/6309/eales-disease owl:Class GO:0033005 biolink:NamedThing positive regulation of mast cell activation Any process that activates or increases the frequency, rate, or extent of mast cell activation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003561 biolink:NamedThing malignant giant cell tumor of soft parts An undifferentiated pleomorphic sarcoma characterized by the presence of osteoclast-like giant cells and cellular pleomorphism. tmpaxzxjjyw_mondo_relaxed.owl malignant giant cell neoplasm of soft parts|giant cell malignant fibrous histiocytoma|malignant giant cell tumor of soft parts (morphologic abnormality)|malignant giant cell tumor of soft parts|malignant Osteoclastoma|giant cell fibrous histiocytoma|undifferentiated pleomorphic sarcoma with osteoclast-like giant cells ICDO:9251/3|NCIT:C8380|UMLS:C0334554|DOID:5638 owl:Class MONDO:0030313 biolink:NamedThing encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 tmpaxzxjjyw_mondo_relaxed.owl encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10|herpes simplex encephalitis, susceptibility to, 7|IIAE10 OMIM:619396 owl:Class HP:0032016 biolink:NamedThing Abnormal sputum Abnormal appearance of material expectorated (coughed up) from the respiratory system and that is composed of mucus but may contain other substances such as pus, blood, microorganisms, and fibrin. tmpaxzxjjyw_mondo_relaxed.owl Abnormal sputum morphology 2018-08-25 12:36:36+00:00 peter human_phenotype owl:Class MONDO:0012792 biolink:NamedThing mitochondrial DNA depletion syndrome 8a Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene. tmpaxzxjjyw_mondo_relaxed.owl RRM2B-related mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy|MTDPS8A|mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy|mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-related|mitochondrial DNA depletion syndrome 8B (Mngie type)|RRM2B mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome type 8a|encephalomyopathic type with renal tubulopathy|mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)|mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|Mngie, Rrm2B-related|mitochondrial DNA depletion syndrome caused by mutation in RRM2B ICD10:G31.8|SCTID:765100000|Orphanet:298|GARD:0013200|OMIM:612075|Orphanet:254803|DOID:0080127|Orphanet:255235 owl:Class UBERON:0035286 biolink:NamedThing lateral wall of oropharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013893 biolink:NamedThing multiple sclerosis, susceptibility to, 5 Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene. tmpaxzxjjyw_mondo_relaxed.owl MS5|susceptibility to multiple sclerosis 5|TNFRSF1A multiple sclerosis, susceptibility to|multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A|multiple sclerosis, susceptibility to, 5|multiple sclerosis, susceptibility to, type 5 OMIM:614810 owl:Class UBERON:0011859 biolink:NamedThing internal acoustic meatus tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:15841 biolink:NamedThing polypeptide A peptide containing ten or more amino acid residues. tmpaxzxjjyw_mondo_relaxed.owl polipeptido|polypeptides|Polypeptide|Polypeptid owl:Class MONDO:0000630 biolink:NamedThing immune system organ benign neoplasm A benign neoplasm that involves the immune organ. tmpaxzxjjyw_mondo_relaxed.owl immune organ benign neoplasm DOID:0060092 owl:Class MONDO:0003765 biolink:NamedThing adult leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes and occurs in adulthood. tmpaxzxjjyw_mondo_relaxed.owl adult meningeal melanoma|adult leptomeningeal melanoma|melanoma of the adult leptomeninges|melanoma of adult leptomeninges DOID:6090|NCIT:C5319|UMLS:C1332204 owl:Class MONDO:0007861 biolink:NamedThing isolated cloverleaf skull syndrome Isolated cloverleaf skull syndrome is a form of craniosynostosis involving multiple sutures (coronal, lambdoidal, sagittal and metopic) characterized by a trilobular skull of varying severity (frontal towering and bossing, temporal bulging and a flat posterior skull), dysmorphic features (downslanting palpebral fissures, midface hypoplasia, and extreme proptosis) and that is complicated by hydrocephalus, cerebral venous hypertension, developmental delay/intellectual disability and hind brain herniation. tmpaxzxjjyw_mondo_relaxed.owl Kleeblattschaedel syndrome|cloverleaf skull|KLEEBLATTSCHAEDEL|Kleeblattschaedel deformity syndrome|isolated cloverleaf skull syndrome|Kleeblattschaedel-deformity syndrome|Kleeblattschadel|cloverleaf skull syndrome ICD10:Q75.0|UMLS:CN201565|OMIM:148800|MESH:C536884|Orphanet:2343|SCTID:254022009|GARD:0003115|OMIM:600775 https://rarediseases.info.nih.gov/diseases/3115/kleeblattschaedel-syndrome owl:Class GO:1902533 biolink:NamedThing positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. tmpaxzxjjyw_mondo_relaxed.owl activation of signal transmission via intracellular cascade|activation of intracellular signal transduction|activation of intracellular signal transduction pathway|positive regulation of intracellular signaling pathway|upregulation of intracellular signal transduction pathway|activation of intracellular signaling pathway|positive regulation of signal transmission via intracellular cascade|up-regulation of intracellular signaling cascade|up regulation of intracellular signal transduction|up-regulation of intracellular signaling chain|up-regulation of intracellular signal transduction|positive regulation of intracellular signaling chain|up-regulation of intracellular signaling pathway|upregulation of intracellular signaling chain|up regulation of signal transmission via intracellular cascade|up regulation of intracellular signaling pathway|upregulation of intracellular signaling pathway|positive regulation of intracellular signal transduction pathway|up-regulation of intracellular signal transduction pathway|positive regulation of intracellular protein kinase cascade|upregulation of signal transduction via intracellular signaling cascade|positive regulation of intracellular signaling cascade|upregulation of intracellular signaling cascade|up regulation of intracellular signaling cascade|positive regulation of signal transduction via intracellular signaling cascade|upregulation of intracellular signal transduction|up-regulation of signal transmission via intracellular cascade|activation of signal transduction via intracellular signaling cascade|upregulation of signal transmission via intracellular cascade|up-regulation of signal transduction via intracellular signaling cascade|activation of intracellular signaling cascade|up regulation of signal transduction via intracellular signaling cascade|up regulation of intracellular signaling chain|up regulation of intracellular signal transduction pathway|activation of intracellular signaling chain owl:Class NCBITaxon:123366 biolink:NamedThing Eurypterygia tmpaxzxjjyw_mondo_relaxed.owl Eurypterygii GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:123365 biolink:NamedThing Neoteleostei tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008658 biolink:NamedThing virus Rd114 RNA Complementarity tmpaxzxjjyw_mondo_relaxed.owl virus Rd114 RNA Complementarity OMIM:193070 owl:Class GO:0045786 biolink:NamedThing negative regulation of cell cycle Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle. tmpaxzxjjyw_mondo_relaxed.owl down regulation of progression through cell cycle|negative regulation of progression through cell cycle|downregulation of progression through cell cycle|negative regulation of cell cycle progression|inhibition of progression through cell cycle|down-regulation of progression through cell cycle owl:Class GO:0070134 biolink:NamedThing positive regulation of mitochondrial translational initiation Any process that activates or increases the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of mitochondrial translation initiation owl:Class MONDO:0100423 biolink:NamedThing acute myeloid leukemia, PTPN11 gene mutation Any acute myeloid leukemia that has the chromosomal anomaly PTPN11 gene mutation. (Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.) tmpaxzxjjyw_mondo_relaxed.owl AML, SHP-2 Gene Mutation|AML, PTPN11 gene mutation|AML, SHP2 Gene Mutation|AML, Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation|AML, BPTP3 Gene Mutation|AML, SH-PTP2 Gene Mutation|AML, PTP-1D Gene Mutation|AML, Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation|AML, PTP2C Gene Mutation NCIT:C82612 owl:Class MONDO:0014529 biolink:NamedThing cerebellar-facial-dental syndrome tmpaxzxjjyw_mondo_relaxed.owl CEREBELLOFACIODENTAL syndrome|CFDS|cerebellar-facial-dental syndrome|Cerebellofaciodental syndrome UMLS:CN221667|ICD10:Q87.0|Orphanet:444072|EFO:0009030|OMIM:616202|UMLS:C4015495 owl:Class MONDO:0009693 biolink:NamedThing plasma cell myeloma A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl plasma cell myeloid neoplasm|myeloma, multiple|Al amyloidosis|plasma cell myeloma|amyloidosis, systemic|Kahler disease|myeloma, plasma cell, malignant|multiple myeloma/plasma cell myeloma|multiple myeloma|myeloma - multiple|myeloma|myeloid neoplasm of plasma cell|Kahler's disease|myelomatosis|medullary plasmacytoma ICD10:C90.0|MedDRA:10028228|ONCOTREE:PCM|Orphanet:85443|MESH:D009101|NCIT:C3242|EFO:0001378|Orphanet:29073|OMIM:254500|GARD:0007108|UMLS:C0026764|ICD10:C90.00|Orphanet:314701|ICD9:203.0|DOID:9538|ICDO:9732/3 https://github.com/monarch-initiative/mondo/issues/1506 owl:Class MONDO:0005170 biolink:NamedThing myeloid neoplasm Proliferation of myeloid cells originating from a primitive stem cell. tmpaxzxjjyw_mondo_relaxed.owl myeloid neoplasm|myeloid tumor|myeloid malignancy ICDO:9975/1|ONCOTREE:MYELOID|DOID:0070004|EFO:0002427|UMLS:C2939461|NCIT:C9290 owl:Class MONDO:0030878 biolink:NamedThing Kaya-Barakat-Masson syndrome tmpaxzxjjyw_mondo_relaxed.owl KABAMAS OMIM:619125 owl:Class MONDO:0003988 biolink:NamedThing sternum lymphoma A rare lymphoma that arises from the bone or soft tissue of the sternum. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of the sternum|lymphoma of sternum|sternal lymphoma|sternum lymphoma|primary sternal lymphoma DOID:6762|UMLS:C1336504|NCIT:C6716 owl:Class FOODON:03411201 biolink:NamedThing dairy cow A dairy cow is an adult female member of a dairy cattle breed tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12517 biolink:NamedThing UCP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002569 biolink:NamedThing mesenchymal stem cell of umbilical cord A mesenchymal stem cell of the umbilical cord. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-01T09:55:12Z cell owl:Class MONDO:0000516 biolink:NamedThing phalanx chondroma A chondroma that involves the phalanx. tmpaxzxjjyw_mondo_relaxed.owl phalanx chondroma DOID:0050898 owl:Class UBERON:0005221 biolink:NamedThing liver right lobe parenchyma tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016562 biolink:NamedThing progressive supranuclear palsy-pure akinesia with gait freezing syndrome PSP-Pure akinesia with gait freezing (PSP-PAGF) is an atypical variant of progressive supranuclear palsy (PSP), a rare late-onset neurodegenerative disease. tmpaxzxjjyw_mondo_relaxed.owl PSP-pure akinesia with gait freezing|PSP-PAGF ICD10:G23.1|UMLS:CN226961|Orphanet:240094 owl:Class MONDO:0003805 biolink:NamedThing malignant pericardial mesothelioma A rare neoplasm of mesothelial origin that arises from the pericardium. tmpaxzxjjyw_mondo_relaxed.owl malignant mesothelioma (disease) of pericardium|malignant mesothelioma of the pericardium|pericardium malignant mesothelioma (disease)|malignant pericardial mesothelioma|pericardium mesothelioma|malignant mesothelioma of pericardium|pericardial malignant mesothelioma|pericardial mesothelioma DOID:6201|HP:0100004|SCTID:109383000|ICD10:C45.2|UMLS:C0346110|NCIT:C7631|UMLS:C1335381 owl:Class MONDO:0006292 biolink:NamedThing malignant mesothelioma A malignant neoplasm of the pleura or peritoneum, arising from mesothelial cells. It is associated with exposure to asbestos. tmpaxzxjjyw_mondo_relaxed.owl malignant mesothelial tumor|advanced malignant mesothelioma|asbestos-related malignant mesothelioma|malignant mesothelial neoplasm|diffuse malignant mesothelioma|malignant mesothelioma|malignant tumor of mesothelium|malignant tumor of the mesothelium|malignant mesothelioma (disease)|malignant neoplasm of mesothelium|mesothelioma, malignant|malignant neoplasm of the mesothelium|MESOM malignant mesothelioma (disease) UMLS:C0025500|OMIM:156240|ICD9:199.1|UMLS:C0345967|HP:0100001|MedDRA:10027406|MESH:D008654|EFO:1000355|Orphanet:50251|NCIT:C4456|DOID:1790|UMLS:C0278752|UMLS:C0812413|SCTID:109378008|GARD:0007026|UMLS:C1332338|ICD10:C45.0|ICDO:9050/3|MESH:C562839 owl:Class NCBITaxon:1980459 biolink:NamedThing Bayou orthohantavirus tmpaxzxjjyw_mondo_relaxed.owl Bayou hantavirus|Bayou virus GC_ID:1 NCBITaxon:37962 ncbi_taxonomy owl:Class MONDO:0012801 biolink:NamedThing autism, susceptibility to, 15 tmpaxzxjjyw_mondo_relaxed.owl susceptibility to autism 15|autism, susceptibility to, type 15|autism, susceptibility to, 15|AUTS15 OMIM:612100 owl:Class CL:0000696 biolink:NamedThing PP cell A cell that stores and secretes pancreatic polypeptide hormone. tmpaxzxjjyw_mondo_relaxed.owl type F enteroendocrine cell FMA:83409|FMA:62938 cell owl:Class MONDO:0014524 biolink:NamedThing intellectual disability, autosomal recessive 47 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive type 47|intellectual disability, autosomal recessive type 47|FMN2 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 47|MRT47|intellectual disability, autosomal recessive 47|autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2 OMIM:616193|UMLS:C4015444 owl:Class MONDO:0060642 biolink:NamedThing neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features|NEDMAGA UMLS:CN800196|OMIM:617865 owl:Class MONDO:0000510 biolink:NamedThing synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [url:http://en.wikipedia.org/wiki/Synucleinopathies ] tmpaxzxjjyw_mondo_relaxed.owl synucleinopathies|alpha synucleinopathies DOID:0050890 owl:Class NCBITaxon:1643688 biolink:NamedThing Leptospirales tmpaxzxjjyw_mondo_relaxed.owl Leptospiriales PMID:23908650|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0001180 biolink:NamedThing bullous keratopathy Keratopathy that is characterized by the presence of epithelial bullae. tmpaxzxjjyw_mondo_relaxed.owl ICD9:371.23|ICD10:H18.1|UMLS:C0155111|NCIT:C26970|SCTID:57207003|DOID:11031 owl:Class NCBITaxon:5014 biolink:NamedThing Dothideales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007457 biolink:NamedThing diastema, dental medial tmpaxzxjjyw_mondo_relaxed.owl diastema, dental medial MESH:C565098|OMIM:125900 owl:Class MONDO:0002046 biolink:NamedThing alcohol abuse The use of alcoholic beverages to excess, either on individual occasions ("binge drinking") or as a regular practice. tmpaxzxjjyw_mondo_relaxed.owl intoxication, chronic alcoholic|alcoholic intoxication, chronic|chronic alcoholic intoxication|alcohol dependence|ethanol abuse|abuse, alcohol|addiction, alcohol|alcohol abuse|dependence, alcohol|alcohol addiction|alcohol use disorder|alcoholism DOID:1574|MESH:D000437|ICD9:305.0|ICD10:F10.1|ICD9:305.00|NCIT:C20701|SCTID:15167005|MESH:D019973 owl:Class GO:0032812 biolink:NamedThing positive regulation of epinephrine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of epinephrine. tmpaxzxjjyw_mondo_relaxed.owl stimulation of epinephrine secretion|up regulation of epinephrine secretion|upregulation of epinephrine secretion|activation of epinephrine secretion|positive regulation of adrenaline secretion|up-regulation of epinephrine secretion owl:Class MONDO:0008533 biolink:NamedThing teeth, supernumerary An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption. tmpaxzxjjyw_mondo_relaxed.owl teeth, supernumerary ICD10:K00.1|MESH:D014096|SCTID:8666004|OMIM:187100 owl:Class GO:0010927 biolink:NamedThing cellular component assembly involved in morphogenesis The cellular component assembly that is part of the initial shaping of the component during its developmental progression. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020355 biolink:NamedThing coloboma of eye lens tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98943|GARD:0001433|ICD10:Q12.2 https://rarediseases.info.nih.gov/diseases/1433/coloboma-of-eye-lens owl:Class MONDO:0011306 biolink:NamedThing muscular dystrophy, congenital, with cerebellar atrophy tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, congenital, with cerebellar atrophy UMLS:C1864028|MESH:C566392|OMIM:603323 owl:Class NCBITaxon:1335626 biolink:NamedThing Middle East respiratory syndrome-related coronavirus tmpaxzxjjyw_mondo_relaxed.owl Middle East respiratory syndrome coronavirus|Middle East Respiratory Syndrome Coronavirus (MERS-CoV)|MERS virus|MERS-CoV|MERS|MERS coronavirus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2509494 biolink:NamedThing Merbecovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0037739 biolink:NamedThing benign neoplasm of cauda equina A benign neoplasm that involves the cauda equina. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of cauda equina SCTID:92047003|UMLS:C0686404 owl:Class MONDO:0010696 biolink:NamedThing omphalocele, X-linked tmpaxzxjjyw_mondo_relaxed.owl omphalocele, X-linked UMLS:C3275625|OMIM:310980|Orphanet:660 owl:Class MONDO:0019015 biolink:NamedThing omphalocele Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac. tmpaxzxjjyw_mondo_relaxed.owl omphalocoele|congenital omphalocele|exomphalos|omphalocele (disease)|eventration|omphalocele omphalocele (disease) OMIM:164750|SCTID:18735004|OMIM:310980|ICD9:756.72|DOID:0060327|ICD10:Q79.2|NCIT:C98997|MedDRA:10030308|Orphanet:660|HP:0001539|UMLS:C0795690 owl:Class GO:0048869 biolink:NamedThing cellular developmental process A biological process whose specific outcome is the progression of a cell over time from an initial condition to a later condition. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004860 biolink:NamedThing vitreous disorder A disease involving the vitreous humor. tmpaxzxjjyw_mondo_relaxed.owl disorder of vitreous humor|disease of vitreous humor|disease or disorder of vitreous humor|vitreous humor disease|vitreous humor disease or disorder ICD9:379.24|ICD10:H43.39|ICD10:H43.3|DOID:9720 owl:Class MONDO:0001994 biolink:NamedThing sphenoidal sinus cancer A malignant neoplasm involving the sphenoidal sinus. tmpaxzxjjyw_mondo_relaxed.owl malignant sphenoid sinus neoplasm|malignant sphenoidal sinus neoplasm|cancer of sphenoidal sinus|malignant neoplasm of the sphenoidal sinus|malignant tumor of sphenoid sinus|malignant sphenoid sinus tumor|malignant neoplasm of sphenoid sinus|sphenoidal sinus cancer|malignant neoplasm of the sphenoid sinus|malignant tumor of the sphenoid sinus|malignant tumor of the sphenoidal sinus|malignant tumor of sphenoidal sinus|malignant neoplasm of sphenoidal sinus|malignant sphenoidal sinus tumor NCIT:C3543|ICD10:C31.3|ICD9:160.5|UMLS:C0153479|DOID:14546|SCTID:363428005 owl:Class GO:0055080 biolink:NamedThing cation homeostasis Any process involved in the maintenance of an internal steady state of cations within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007973 biolink:NamedThing mental and growth retardation with amblyopia tmpaxzxjjyw_mondo_relaxed.owl mental and growth retardation with amblyopia OMIM:156190|MESH:C563591|UMLS:C1835028 owl:Class MONDO:0009371 biolink:NamedThing 3-hydroxyisobutyric aciduria 3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl disorder of valine metabolism|3-hydroxyisobutyric aciduria UMLS:C0342737|SCTID:237957007|ICD10:E71.1|GARD:0005662|MESH:C535312|Orphanet:939|OMIM:236795|ICD9:791.9 https://rarediseases.info.nih.gov/diseases/5662/3-hydroxyisobutyric-aciduria owl:Class MONDO:0015920 biolink:NamedThing syndromic neurometabolic disease with X-linked intellectual disability tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:182076|UMLS:CN200518 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurometabolic disease' MONDO_0019058 owl:Class UBERON:0004387 biolink:NamedThing epiphysis of phalanx of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000766 biolink:NamedThing negative regulation of cytoplasmic translation Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6902 biolink:NamedThing MASP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022960 biolink:NamedThing dermatocardioskeletal syndrome boronne type tmpaxzxjjyw_mondo_relaxed.owl GARD:0001812 https://rarediseases.info.nih.gov/diseases/1812/dermatocardioskeletal-syndrome-boronne-type owl:Class MONDO:0016790 biolink:NamedThing tricarboxylic acid cycle disorder An acquired metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle. tmpaxzxjjyw_mondo_relaxed.owl inborn tricarboxylic acid cycle disorder|TCA cycle disorder|Krebs cycle disorder|inborn error of tricarboxylic acid cycle|citric acid cycle disorder|rare inborn error of tricarboxylic acid cycle UMLS:CN227000|Orphanet:254749|ICD10:E88.8 owl:Class MONDO:0001938 biolink:NamedThing vulvar dystrophy A non-neoplastic lesion that affects the vulva and is characterized by thinning or thickening of the skin and dryness. tmpaxzxjjyw_mondo_relaxed.owl dystrophy of vulva ICD9:624.0|SCTID:51689003|UMLS:C0013426|ICD9:624.09|ICD10:N90.4|NCIT:C34565|DOID:14292 owl:Class MONDO:0011050 biolink:NamedThing microcephaly-cardiac defect-lung malsegmentation syndrome Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. tmpaxzxjjyw_mondo_relaxed.owl microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs|microcephaly, congenital heart disease, lung segmentation defects and unilateral renal agenesis|Ellis-Yale-Winter syndrome|Ellis Yale Winter syndrome SCTID:719379001|MESH:C563341|GARD:0002098|Orphanet:2516|OMIM:601355|ICD10:Q87.8 owl:Class MONDO:0010484 biolink:NamedThing hearing loss, X-linked 6 Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene. tmpaxzxjjyw_mondo_relaxed.owl COL4A6 X-linked nonsyndromic deafness|DFNX6|deafness, X-linked 6|X-linked nonsyndromic deafness caused by mutation in COL4A6|deafness, X-linked type 6 DOID:0111740|OMIM:300914|UMLS:C3806737|Orphanet:90625 owl:Class GO:0061622 biolink:NamedThing glycolytic process through glucose-1-phosphate The chemical reactions and pathways through a glucose-1-phosphate intermediate that result in the catabolism of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060591 biolink:NamedThing chondroblast differentiation The process in which a mesenchymal cell, acquires specialized structural and/or functional features of a chondroblast. Differentiation includes the processes involved in commitment of a cell to a chondroblast fate. A chondroblast is a precursor cell to chondrocytes. tmpaxzxjjyw_mondo_relaxed.owl chondrocyte progenitor cell differentiation owl:Class MONDO:0700122 biolink:NamedThing PBRM1-related BAFopathy Any BAFopathy in which the cause of the disease is a mutation in the PBRM1 gene. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003578 biolink:NamedThing pedal digit connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015791 biolink:NamedThing digit connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005117 biolink:NamedThing Aeromonas hydrophila infectious disease Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria. tmpaxzxjjyw_mondo_relaxed.owl Aeromonas hydrophila disease or disorder|Aeromonas hydrophila caused disease or disorder EFO:0000776 owl:Class MONDO:0011820 biolink:NamedThing scoliosis, isolated, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl IS2|scoliosis, isolated, susceptibility to, 2 OMIM:607354 owl:Class MONDO:0002058 biolink:NamedThing breast adenoma A benign, well circumscribed neoplasm that arises from the breast. Representative examples include apocrine adenoma, tubular adenoma, and pleomorphic adenoma. tmpaxzxjjyw_mondo_relaxed.owl Ademoma - breast|breast adenoma NCIT:C40382|UMLS:C1328385|DOID:1625 owl:Class MONDO:0003879 biolink:NamedThing ovarian endometrioid adenocarcinofibroma A malignant neoplasm of the ovary characterized by the presence of malignant glandular cells resembling endometrial cells in a fibrotic stroma. tmpaxzxjjyw_mondo_relaxed.owl ovarian endometrioid adenocarcinofibroma|ovarian endometrioid malignant adenofibroma NCIT:C40060|UMLS:C1518711|DOID:6445|ICDO:8381/3 owl:Class GO:0048469 biolink:NamedThing cell maturation A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. tmpaxzxjjyw_mondo_relaxed.owl functional differentiation owl:Class MONDO:0002671 biolink:NamedThing signet ring cell breast carcinoma An invasive breast adenocarcinoma characterized by the presence of malignant epithelial cells with signet ring appearance. tmpaxzxjjyw_mondo_relaxed.owl breast signet ring cell adenocarcinoma|primary SRC carcinoma of the breast|primary signet Ring cell breast carcinoma|SRC breast carcinoma|SRC carcinoma of the breast|signet ring cell carcinoma of breast|primary signet Ring cell carcinoma of breast|breast carcinoma with signet ring|signet Ring cell breast carcinoma|signet Ring cell carcinoma of the breast|primary signet Ring cell carcinoma of the breast|signet Ring cell carcinoma of breast|primary mammary signet Ring cell carcinoma|primary SRC breast carcinoma|mammary signet Ring cell carcinoma|SRC carcinoma of breast|breast signet ring cell carcinoma|primary SRC carcinoma of breast DOID:3503|ONCOTREE:BRSRCC|UMLS:C1335964|NCIT:C5175 owl:Class MONDO:0015919 biolink:NamedThing syndromic neurometabolic disease with non-X-linked intellectual disability tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:182073|UMLS:CN200517 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurometabolic disease' MONDO_0019058 owl:Class UBERON:0009480 biolink:NamedThing endoderm of buccopharyngeal membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009698 biolink:NamedThing Unverricht-Lundborg syndrome Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time. tmpaxzxjjyw_mondo_relaxed.owl Baltic myoclonic epilepsy|epilepsy, progressive myoclonic type 1|myoclonic epilepsy of Unverricht and Lundborg|progressive myoclonus epilepsy type 1|epilepsy, progressive myoclonus 1|epilepsy, progressive myoclonic, 1A|Unverricht's disease|Unverricht-Lundborg syndrome|epilepsy, progressive myoclonic, 1|progressive myoclonic epilepsy type 1|progressive myoclonus epilepsy Baltic myoclonic epilepsy|PME type 1|Unverricht - Lundborg disease|EPM1|Unverricht-Lundborg disease|ULD|progressive myoclonic epilepsy|Uld|myoclonus progressive epilepsy of Unverricht and Lundborg ICD10:G40.3|OMIM:254800|MESH:D020194|OMIM:612437|OMIM:310370|MedDRA:10054895|UMLS:C0751785|SCTID:230423006|Orphanet:308|GARD:0003876|DOID:3535 owl:Class OBO:MFOMD_0000107 biolink:NamedThing compulsion The need to perform acts or to dwell on thoughts to reduce anxiety. "Understanding abnormal behavior". David Sue, Derald Wing Sue, Stanley Sue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011778 biolink:NamedThing multiple epiphyseal dysplasia, Al-Gazali type Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl Mmedf|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|AL-Gazali-BAKALINOVA syndrome|multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|AGBK|Al-Gazali-Bakalinova syndrome SCTID:719688002|Orphanet:166024|OMIM:607131|ICD10:Q77.3|MESH:C564621 owl:Class MONDO:0018636 biolink:NamedThing autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome tmpaxzxjjyw_mondo_relaxed.owl triangle disease|TPPII deficiency|tripeptidyl-peptidase II deficiency|Evans syndrome associated with primary immunodeficiency|TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease Orphanet:444463|ICD10:D61.0|UMLS:CN237691 owl:Class MONDO:0045060 biolink:NamedThing intraductal cribriform breast adenocarcinoma A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern. tmpaxzxjjyw_mondo_relaxed.owl ductal carcinoma in situ of breast with cribriform pattern|intraductal cribriform breast adenocarcinoma|non-infiltrating cribriform ductal breast carcinoma|cribriform ductal carcinoma in situ of breast|cribriform ductal breast carcinoma in situ|DCIS of the breast with cribriform pattern|cribriform ductal carcinoma in situ of the breast|non-invasive cribriform ductal breast carcinoma|DCIS of breast with cribriform pattern|cribriform DCIS of the breast|cribriform DCIS of breast|ductal carcinoma in situ of the breast with cribriform pattern ICDO:8201/2|UMLS:C1334248|NCIT:C5138 owl:Class MONDO:0010713 biolink:NamedThing properdin deficiency, X-linked A rare, hereditary, primary immunodeficiency due to a complement cascade protein anomaly characterized by significantly increased susceptibility to Neisseria species infections. It only affects males, typically presenting with severe or fulminant meningococcal disease. tmpaxzxjjyw_mondo_relaxed.owl properdin deficiency, type 1|PFD|properdin deficiency, X-linked|complement Factor properdin deficiency|properdin deficiency, type 3|CFPD|properdin P Factor deficiency|properdin deficiency, type 2 GARD:0009913|DOID:0111768|SCTID:81166004|ICD10:D84.1|GARD:0004513|MESH:C537241|OMIM:312060|Orphanet:2966|ICD9:279.8 owl:Class MONDO:0033839 biolink:NamedThing osteoradionecrosis of the mandible tmpaxzxjjyw_mondo_relaxed.owl Orphanet:521127 owl:Class MONDO:0016641 biolink:NamedThing limb transversal defect-cardiac anomaly syndrome tmpaxzxjjyw_mondo_relaxed.owl Hecht-Scott syndrome UMLS:C2931047|ICD10:Q87.2|MESH:C535856|Orphanet:2492 owl:Class MONDO:0001901 biolink:NamedThing selective IgG subclass deficiency A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria. tmpaxzxjjyw_mondo_relaxed.owl selective Immunoglobulin G subclass deficiency|selective deficiency of IgG|selective IgG immunodeficiency|selective immunoglobulin G deficiency|selective IgG deficiency disease|Immunoglobin G subclass deficiency ICD9:279.03|DOID:14176|SCTID:190981001|MESH:D017099|ICD10:D80.3|NCIT:C27024 owl:Class MONDO:0045045 biolink:NamedThing selective IgG immunodeficiency A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity. tmpaxzxjjyw_mondo_relaxed.owl IgG subclass deficiency|selective IgG immunodeficiency|IgG deficiency UMLS:C0162539|SCTID:12631000119106|NCIT:C27142|GARD:0010371 owl:Class MONDO:0008711 biolink:NamedThing Goodman syndrome Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome. tmpaxzxjjyw_mondo_relaxed.owl Goodman syndrome|acrocephalopolysyndactyly type IV|ACPS4|Goodman camptodactyly|acrocephalopolysyndactyly type 4|ACPS 4 MESH:C537287|OMIM:201020|Orphanet:65798|ICD10:Q87.0|GARD:0002549|SCTID:720600004 https://rarediseases.info.nih.gov/diseases/2549/goodman-syndrome owl:Class HGNC:2084 biolink:NamedThing CLPP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005972 biolink:NamedThing streptococcal pneumonia A febrile disease caused by streptococcus pneumoniae. tmpaxzxjjyw_mondo_relaxed.owl Streptococcus pneumoniae caused pneumonia|pneumonia due to streptococcus|pneumonia caused by streptococcus|pneumococcal pneumonia|Streptococcus pneumonia|Streptococcus pneumoniae pneumonia|streptococcal pneumonia MESH:D011018|SCTID:233607000|ICD9:482.39|ICD10:J13|ICD9:482.30|ICD9:481|EFO:0007499|DOID:0040084|UMLS:C0155862 owl:Class MONDO:0014708 biolink:NamedThing ring chromosome 14 Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. tmpaxzxjjyw_mondo_relaxed.owl Ring chromosome type 14|chromosome 14 ring|Ring 14|RING chromosome 14 syndrome ICD9:758.89|GARD:0006072|OMIM:616606|SCTID:702345009|Orphanet:1440|ICD10:Q93.2|UMLS:CN233170|MESH:C535487 https://rarediseases.info.nih.gov/diseases/6072/ring-chromosome-14 owl:Class MONDO:0003198 biolink:NamedThing small intestine adenocarcinoma An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of the small intestine|adenocarcinoma of small instestine|small bowel adenocarcinoma|adenocarcinoma of the small bowel|small intestinal adenocarcinoma|adenocarcinoma of small bowel|adenocarcinoma - small intest.|adenocarcinoma of small intestine|small intestine adenocarcinoma|adenocarcinoma of the small instestine GARD:0013090|ICD10:D01.4|Orphanet:104075|NCIT:C7888|UMLS:C0278803|EFO:1000532|DOID:4906|SCTID:424440001 owl:Class MONDO:0016181 biolink:NamedThing solid tumor associated with an acquired peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:209019|UMLS:CN200931 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neoplasm MONDO_0005070 owl:Class MONDO:0017140 biolink:NamedThing L1 syndrome L1 syndrome is a mild to severe congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis. tmpaxzxjjyw_mondo_relaxed.owl crash syndrome|corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome|L1 syndrome|L1CAM syndrome GARD:0012524|OMIM:307000|UMLS:CN118845|ICD10:Q04.8|Orphanet:275543|OMIM:303350|OMIM:304100 owl:Class GO:0120190 biolink:NamedThing negative regulation of bile acid secretion Any process that stops, prevents or reduces the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011305 biolink:NamedThing cerebral cavernous malformation 3 Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the PDCD10 gene. tmpaxzxjjyw_mondo_relaxed.owl cerebral cavernous malformations 3|familial cerebral cavernous malformation caused by mutation in PDCD10|PDCD10 familial cerebral cavernous malformation|cerebral cavernous malformation 3|CCM3|cerebral cavernous malformation type 3|cerebral cavernous malformations type 3 MESH:C566393|Orphanet:221061|OMIM:603285|ICD10:Q28.3|DOID:0060671|UMLS:C1864040 MONDO:0000821 owl:Class MONDO:0005742 biolink:NamedThing emphysematous cholecystitis Cholecystitis resulting from infection by gas producing organisms. tmpaxzxjjyw_mondo_relaxed.owl gaseous pericholecystitis MESH:D041882|UMLS:C0521610|NCIT:C35592|SCTID:95558008|EFO:0007249|DOID:9765 owl:Class MONDO:0002155 biolink:NamedThing cholecystitis An acute or chronic inflammation involving the gallbladder wall. It may be associated with the presence of gallstones. tmpaxzxjjyw_mondo_relaxed.owl acute cholecystitis|acalculous cholecystitis|gallstone cholecystitis|chronic cholecystitis|gall bladder inflammation|inflammation of gall bladder|acute and chronic cholecystitis|acute on chronic cholecystitis SCTID:20824003|ICD10:K81.9|GARD:0000030|NCIT:C34465|ICD9:575.11|ICD10:K81|MESH:D002764|DOID:1949|ICD9:575.10|OMIM:600803 owl:Class MONDO:0009519 biolink:NamedThing letterer-Siwe disease A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia. tmpaxzxjjyw_mondo_relaxed.owl L-S disease|letterer-Siwe disease|acute and disseminated Langerhans cell histiocytosis|acute disseminated Langerhans cell histiocytosis|histiocytosis X, acute disseminated|multifocal multisystem Langerhans cell histiocytosis NCIT:C3160|UMLS:C0023381|ICDO:9754/3|Orphanet:99870|ICD10:C96.0|MedDRA:10024265|OMIM:246400 owl:Class MONDO:0017025 biolink:NamedThing Langerhans cell histiocytosis specific to childhood Langerhans cell histiocytosis that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl Langerhans cell histiocytosis|histiocytosis X specific to childhood|childhood Langerhans cell histiocytosis|Langerhans cell granulomatosis specific to childhood NCIT:C114483|UMLS:C3899655|Orphanet:264724 owl:Class GO:1904731 biolink:NamedThing positive regulation of intestinal lipid absorption Any process that activates or increases the frequency, rate or extent of intestinal lipid absorption. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of intestinal lipid absorption|activation of intestinal lipid absorption|up regulation of intestinal lipid absorption|upregulation of intestinal lipid absorption owl:Class MONDO:0022740 biolink:NamedThing Christian Johnson angenieta syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001316 https://rarediseases.info.nih.gov/diseases/1316/christian-johnson-angenieta-syndrome owl:Class MONDO:0011613 biolink:NamedThing autosomal recessive early-onset Parkinson disease 6 Any Parkinson disease in which the cause of the disease is a mutation in the PINK1 gene. tmpaxzxjjyw_mondo_relaxed.owl PINK1 Parkinson disease|autosomal recessive early-onset Parkinson disease type 6|Parkinson disease caused by mutation in PINK1|Parkinson disease 6, autosomal recessive early-onset|Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1|Parkinson disease 6, late-onset, susceptibility to|early-onset Parkinson disease 6|autosomal recessive early-onset Parkinson disease 6|Parkinson disease 6, early-onset|autosomal recessive early-onset Parkinson's disease 6|PARK6 DOID:0060369|MESH:C565276|Orphanet:2828|OMIM:605909 owl:Class HGNC:4588 biolink:NamedThing GRIN2D tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0004447 biolink:NamedThing Poikilocytosis The presence of abnormally shaped erythrocytes. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221281|SNOMEDCT_US:165479004 General description for abnormally shaped erythrocytes. peter 2008-03-18T10:06:00Z human_phenotype owl:Class MONDO:0042233 biolink:NamedThing disseminated candidiasis Systemic candidiasis occurs when Candida yeast enters the bloodstream and may spread (becoming disseminated candidiasis) to other organs, including the central nervous system, kidneys, liver, bones, muscles, joints, spleen, or eyes. tmpaxzxjjyw_mondo_relaxed.owl systemic candidiasis|disseminated candidiasis|invasive candidiasis|systemic candida infections|disseminated candidosis|disseminated candida SCTID:70572005|NCIT:C116812|GARD:0001076 owl:Class MONDO:0010838 biolink:NamedThing gonadal agenesis A congenital disorder characterized by the complete absence of gonadal tissue. tmpaxzxjjyw_mondo_relaxed.owl gonadal agenesis NCIT:C27228|OMIM:600171 See https://github.com/obophenotype/human-phenotype-ontology/issues/3571 owl:Class GO:0021700 biolink:NamedThing developmental maturation A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000944 biolink:NamedThing Abnormality of the metaphysis An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the wide portion of a long bone UMLS:C4025814 HP:0006506 human_phenotype owl:Class MONDO:0016534 biolink:NamedThing infundibulo-neurohypophysitis tmpaxzxjjyw_mondo_relaxed.owl ICD10:E23.6|Orphanet:238305 owl:Class MONDO:0005636 biolink:NamedThing adenosarcoma A low grade malignant neoplasm characterized by the presence of a benign epithelial component (tubular and cleft-like glands) and a low grade sarcomatous component that contains varying amounts of fibrous and smooth muscle tissues. In a minority of cases, the sarcomatous component contains heterologous elements including striated muscle, cartilage, and fat. It occurs in the uterine corpus, ovary, fallopian tube, cervix, and vagina. It may recur and in a minority of cases may metastasize to distant anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl Mullerian adenosarcoma|mullerian adenosarcoma|Müllerian adenosarcoma|adenosarcoma (morphologic abnormality)|adenosarcoma DOID:1974|MESH:D018195|NCIT:C9474|EFO:0007134|ICDO:8933/3|UMLS:C0001442 owl:Class MONDO:0016977 biolink:NamedThing moderately-differentiated thymic neuroendocrine carcinoma tmpaxzxjjyw_mondo_relaxed.owl ICD10:C37|Orphanet:263335|UMLS:CN202279 owl:Class HGNC:13128 biolink:NamedThing ZNF711 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016662 biolink:NamedThing idiopathic recurrent pericarditis A rare autoinflammatory syndrome defined as recurrence of pericardial inflammation of unknown origin following the first episode of acute pericarditis and a symptom-free interval of 4-6 weeks or longer. Recurrent attacks of chest pain may be the sole presentation or the chest pain may be accompanied by pericardial friction rub, electrocardiographic or echocardiographic changes, pericardial effusion and increased C-reactive protein. Cardiac tamponade is a rare, life-threatening complication. tmpaxzxjjyw_mondo_relaxed.owl idiopathic relapsing pericarditis ICD10:I09.2|Orphanet:251307|SCTID:766704005 owl:Class MONDO:0014149 biolink:NamedThing fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. tmpaxzxjjyw_mondo_relaxed.owl lethal congenital contracture syndrome 5|lethal congenital contracture syndrome type 5|myopathy, centronuclear, lethal, autosomal recessive|LCCS5 SCTID:763346009|Orphanet:363409|UMLS:C3809272|OMIM:615368|ICD10:G71.2 owl:Class GO:0033089 biolink:NamedThing positive regulation of T cell differentiation in thymus Any process that activates or increases the frequency, rate or extent of T cell differentiation in the thymus. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of thymocyte differentiation|positive regulation of thymic T cell differentiation|positive regulation of thymocyte cell differentiation|positive regulation of T cell development in thymus owl:Class MONDO:0004730 biolink:NamedThing speech disorder A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders. tmpaxzxjjyw_mondo_relaxed.owl speech impediment or impairment ICD9:784.40|DOID:92|ICD9:784.49|UMLS:C0037822|MESH:D013064|NCIT:C5041|SCTID:47004009 owl:Class MONDO:0008652 biolink:NamedThing congenital vertical talus Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus. tmpaxzxjjyw_mondo_relaxed.owl rocker-bottom foot|congenital convex pes valgus|vertical talus, congenital|rocker-bottom foot deformity|congenital rocker-bottom foot|congenital convex foot|vertical talus|CVT|rocker bottom foot|pes valgus, congenital convex MedDRA:10066242|SCTID:205082007|ICD10:Q66.8|MESH:C536345|ICD9:755.67|Orphanet:178382|GARD:0005488|OMIM:192950|DOID:0111568 https://rarediseases.info.nih.gov/diseases/5488/congenital-vertical-talus owl:Class MONDO:0017427 biolink:NamedThing congenital deformities of limbs tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10024500|Orphanet:294944 owl:Class MONDO:0030333 biolink:NamedThing immunodeficiency 84 tmpaxzxjjyw_mondo_relaxed.owl IMD84|immunodeficiency 84 OMIM:619437 owl:Class MONDO:0011789 biolink:NamedThing familial meningioma A meningioma that is transmitted from the parents to an offspring. tmpaxzxjjyw_mondo_relaxed.owl susceptibility to familial meningioma|meningioma, familial, susceptibility to|hereditary meningioma (disease)|familial meningioma|hereditary meningioma NCIT:C5301|UMLS:C1333989|DOID:4586|Orphanet:263662|MESH:C537443|OMIM:607174 owl:Class MONDO:0010173 biolink:NamedThing Mayer-Rokitansky-Kuster-Hauser syndrome type 1 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females. tmpaxzxjjyw_mondo_relaxed.owl genital renal ear syndrome|congenital absence of uterus and vagina|Mayer-Rokitansky-Küster-Hauser syndrome type 1|Rokitansky sequence|Von Mayer-Rokitansky-Kuster anomaly|Mullerian aplasia/dysgenesis|Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH)|uterus Bipartitus solidus Rudimentarius cum vagina Solida|Müllerian agenesis|MRKH syndrome|urogenital adysplasia|Mayer-Rokitansky-KUSTER-Hauser syndrome|Rokitansky syndrome|MRKH anomaly|Mrk anomaly|Mullerian dysgenesis|congenital absence of the uterus and vagina (CAUV)|MRKH syndrome type 1 SCTID:8793008|Orphanet:3109|Orphanet:247775|ICD9:752.49|OMIM:277000|ICD10:Q51.8|GARD:0007100 https://rarediseases.info.nih.gov/diseases/7100/mullerian-aplasia owl:Class GO:0070131 biolink:NamedThing positive regulation of mitochondrial translation Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of mitochondrial protein biosynthesis|positive regulation of mitochondrial protein formation|positive regulation of mitochondrial protein anabolism|positive regulation of mitochondrial protein synthesis owl:Class HGNC:15899 biolink:NamedThing NDUFAF5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018925 biolink:NamedThing familial or sporadic hemiplegic migraine Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM). tmpaxzxjjyw_mondo_relaxed.owl familial or sporadic hemiplegic migraine|hemiplegic migraine SCTID:59292006|ICD10:G43.1|OMIM:141500|OMIM:602481|OMIM:607516|OMIM:609634|ICD9:346.30|Orphanet:569|GARD:0010768 https://rarediseases.info.nih.gov/diseases/10768/hemiplegic-migraine owl:Class MONDO:0005475 biolink:NamedThing migraine with aura A migraine disorder characterized by episodes that are preceded by focal neurological symptoms. tmpaxzxjjyw_mondo_relaxed.owl classic migraine ICD9:346.00|DOID:10024|UMLS:C0154723|NCIT:C117005|ICD10:G43.109|OMIM:609179|ICD9:346.0|OMIM:609670|ICD10:G43.1|HP:0002077|MESH:D020325|SCTID:4473006|EFO:0005295 owl:Class MONDO:0100376 biolink:NamedThing acute myeloid leukemia, t(9;11)(p21.3;q23.3) Any acute myeloid leukemia that has the chromosomal anomaly t(9;11)(p21.3;q23.3). (A cytogenetic abnormality that refers to the translocation of the short arm (p21.3) of chromosome 9 and the long arm (q23.3) of chromosome 11. It is associated with the development of acute myeloid leukemia with the MLLT3-MLL fusion gene transcript.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(9;11)(p21.3;q23.3)|AML, t(9;11)(p22;q23) NCIT:C36370 term to be merged with: MONDO:0020317 'acute myeloid leukemia with 11q23 abnormalities' https://github.com/monarch-initiative/mondo/issues/3583 owl:Class MONDO:0004682 biolink:NamedThing retromolar area cancer A malignant form of neoplasm of retromolar area. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of retromolar area|neoplasm of retromolar area, malignant|malignant neoplasm of retromolar area DOID:8930|ICD9:145.6|ICD10:C06.2|SCTID:363391009 owl:Class MONDO:0037744 biolink:NamedThing neoplasm of retromolar area tmpaxzxjjyw_mondo_relaxed.owl tumor of retromolar area|neoplasm of retromolar area UMLS:C0345590|SCTID:126804008 owl:Class CL:1001517 biolink:NamedThing stomach enteroendocrine cell The various hormone- or neurotransmitter-secreting cells present throughout the mucosa of the stomach. tmpaxzxjjyw_mondo_relaxed.owl cl owl:Class UBERON:0004492 biolink:NamedThing cardiac muscle tissue of cardiac septum tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002099 biolink:NamedThing Asthma Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. tmpaxzxjjyw_mondo_relaxed.owl Reactive airway disease|Bronchial asthma|Asthma UMLS:C3714497|SNOMEDCT_US:991000119106|SNOMEDCT_US:195967001|UMLS:C0004096|MSH:D001249 HP:0002112 human_phenotype owl:Class GO:0070003 biolink:NamedThing threonine-type peptidase activity Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a mechanism in which the hydroxyl group of a threonine residue at the active center acts as a nucleophile. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0022275 biolink:NamedThing colic flexure tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2732532 biolink:NamedThing Sepolyvirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014971 biolink:NamedThing amelogenesis imperfecta, hypomaturation type, IIa6 tmpaxzxjjyw_mondo_relaxed.owl amelogenesis imperfecta, hypomaturation type, IIa6|AI2A6|amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6 OMIM:617217|UMLS:C4310665 owl:Class NCBITaxon:2732536 biolink:NamedThing Cirlivirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732423 biolink:NamedThing Arfiviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0045333 biolink:NamedThing cellular respiration The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration). tmpaxzxjjyw_mondo_relaxed.owl respiration|oxidative metabolism|oxidative metabolic process owl:Class GO:0043225 biolink:NamedThing ATPase-coupled inorganic anion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + inorganic anion(out) = ADP + phosphate + inorganic anion(in). tmpaxzxjjyw_mondo_relaxed.owl ATPase-coupled anion transmembrane transporter activity|anion transmembrane-transporting ATPase activity|ATP-dependent anion transmembrane transporter activity|anion ABC transporter|anion-transporting ATPase activity owl:Class GO:1902340 biolink:NamedThing negative regulation of chromosome condensation Any process that stops, prevents or reduces the frequency, rate or extent of chromosome condensation. tmpaxzxjjyw_mondo_relaxed.owl downregulation of nuclear chromosome condensation|downregulation of chromosome condensation|down regulation of chromosome condensation|downregulation of eukaryotic chromosome condensation|negative regulation of eukaryotic chromosome condensation|inhibition of eukaryotic chromosome condensation|down regulation of nuclear chromosome condensation|down regulation of eukaryotic chromosome condensation|negative regulation of nuclear chromosome condensation|inhibition of chromosome condensation|down-regulation of eukaryotic chromosome condensation|down-regulation of chromosome condensation|down-regulation of nuclear chromosome condensation|inhibition of nuclear chromosome condensation owl:Class MONDO:0018205 biolink:NamedThing distal monosomy 1q 1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies. tmpaxzxjjyw_mondo_relaxed.owl distal deletion 1q|telomeric deletion 1q|distal monosomy type 1q|monosomy 1qter UMLS:C4273897|ICD10:Q93.5|SCTID:717633007|Orphanet:36367|OMIM:612337 owl:Class MONDO:0004903 biolink:NamedThing deep keratitis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2960633|DOID:9858|SCTID:445741003|ICD9:370.59|ICD9:370.5|ICD10:H16.3 owl:Class HGNC:20406 biolink:NamedThing KRT6C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014427 biolink:NamedThing cone-rod dystrophy 20 Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene. tmpaxzxjjyw_mondo_relaxed.owl POC1B cone-rod dystrophy|cone-rod dystrophy 20|cone-rod dystrophy type 20|cone-rod dystrophy caused by mutation in POC1B|CORD20 DOID:0111026|OMIM:615973|UMLS:C4014856 owl:Class HP:0045058 biolink:NamedThing Abnormality of the testis size An anomaly of the size of the testicle (the male gonad). tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4073180 human_phenotype owl:Class HP:0000035 biolink:NamedThing Abnormal testis morphology An anomaly of the testicle (the male gonad). tmpaxzxjjyw_mondo_relaxed.owl Anomaly of the testes|Abnormality of the testis SNOMEDCT_US:55631001|UMLS:C0266423 human_phenotype owl:Class MONDO:0000672 biolink:NamedThing form agnosia An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060142 owl:Class PATO:0001693 biolink:NamedThing increased viscosity A viscosity which relatively high. tmpaxzxjjyw_mondo_relaxed.owl high viscosity owl:Class UBERON:0003333 biolink:NamedThing submucosa of jejunum tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0090394 biolink:NamedThing negative regulation of excitatory postsynaptic potential Any process that prevents the establishment or decreases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of EPSP|reduction of excitatory postsynaptic membrane potential|negative regulation of excitatory post-synaptic membrane potential owl:Class MONDO:0012867 biolink:NamedThing hereditary spastic paraplegia 38 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 4p16-p15. tmpaxzxjjyw_mondo_relaxed.owl SPG38|autosomal dominant spastic paraplegia type 38|autosomal dominant spastic paraplegia 38|spastic paraplegia 38, autosomal dominant|hereditary spastic paraplegia type 38 UMLS:C2676732|OMIM:612335|MESH:C567349|DOID:0110789|Orphanet:171617|ICD10:G11.4 owl:Class HP:0008386 biolink:NamedThing Aplasia/Hypoplasia of the nails Aplasia or developmental hypoplasia of the nail. tmpaxzxjjyw_mondo_relaxed.owl Absent/small nails|Absent/underdeveloped nails|Nail aplasia/hypoplasia|Absent/hypoplastic nails UMLS:C1859077 HP:0008385 human_phenotype owl:Class MONDO:0012520 biolink:NamedThing insulin-resistance syndrome type A Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight. tmpaxzxjjyw_mondo_relaxed.owl type A insulin resistance syndrome|diabetes mellitus, insulin-resistant, with acanthosis nigricans|insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism|Iran, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin-resistant acanthosis nigricans, type A ICD10:E13|MESH:C562710|Orphanet:2297|OMIM:610549|GARD:0003008|NCIT:C131836|EFO:1001503 owl:Class HGNC:19721 biolink:NamedThing CANT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005008 biolink:NamedThing colorectal adenocarcinoma The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl colorectum adenocarcinoma|adenocarcinoma of the large intestine|adenocarcinoma of the large bowel|adenocarcinoma of large intestine|large bowel adenocarcinoma|colorectal adenocarcinoma|colorectal (colon or rectal) adenocarcinoma|adenocarcinoma of large bowel|large intestine adenocarcinoma EFO:0000365|UMLS:C0699790|SCTID:269533000|DOID:0050913|SCTID:408645001|UMLS:C1319315|ONCOTREE:COADREAD|DOID:0050861|NCIT:C5105 Editor note: we follow NCIT in treating colorectal and large intestine as equivalent MONDO:0000528 owl:Class MONDO:0017694 biolink:NamedThing glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal. tmpaxzxjjyw_mondo_relaxed.owl GSD type 2, infantile onset|GSD due to acid maltase deficiency, infantile onset|GSD type II, infantile onset|glycogenosis type 2, infantile onset|glycogen storage disease type II, infantile onset|glycogenosis type II, infantile onset|glycogenosis due to acid maltase deficiency, infantile onset|Pompe disease, infantile onset|glycogen storage disease type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset UMLS:C3888924|SCTID:722302009|ICD10:E74.0|Orphanet:308552|UMLS:CN203590 owl:Class MONDO:0017526 biolink:NamedThing polydactyly of a triphalangeal thumb, bilateral tmpaxzxjjyw_mondo_relaxed.owl bilateral PPD2|preaxial polydactyly type 2, bilateral UMLS:CN203257|ICD10:Q69.1|Orphanet:295150 owl:Class MONDO:0010349 biolink:NamedThing ovarian dysgenesis 2 Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene. tmpaxzxjjyw_mondo_relaxed.owl ovarian failure, hypergonadotropic, due to ovarian dysgenesis|ovarian dysgenesis 2|primary ovarian failure caused by mutation in BMP15|premature ovarian failure 4|ovarian dysgenesis, hypergonadotropic, X-linked|BMP15 primary ovarian failure|ODG2|ovarian dysgenesis type 2 UMLS:C1845294|DOID:0080494|Orphanet:243|MESH:C564499|OMIM:300510 owl:Class CL:0002589 biolink:NamedThing smooth muscle cell of the brachiocephalic vasculature A smooth muscle cell of the bachiocephalic vasculature. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T05:00:58Z cell owl:Class MONDO:0030999 biolink:NamedThing neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism tmpaxzxjjyw_mondo_relaxed.owl NEDCAFD OMIM:619244 owl:Class MONDO:0010403 biolink:NamedThing albinism-hearing loss syndrome A syndromic genetic hearing loss is characterised by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. tmpaxzxjjyw_mondo_relaxed.owl albinism deafness syndrome|albinism-deafness syndrome|Woolf's syndrome|ADFN|ALDS|Woolf syndrome|Ziprkowski–Margolis syndrome OMIM:300700|SCTID:722285005|ICD10:H90.5|Orphanet:998|SCTID:74320008|GARD:0000589|MESH:C537042 Editor note: check whether precisely identicial to Woolf syndrome https://rarediseases.info.nih.gov/diseases/589/albinism-deafness-syndrome|https://github.com/monarch-initiative/mondo/issues/551 owl:Class MONDO:0043209 biolink:NamedThing albinism A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin. tmpaxzxjjyw_mondo_relaxed.owl albinism UMLS:C0001916|NCIT:C84543|SCTID:15890002|GARD:0005768|MESH:D000417|ICD10:E70.3 This groups multiple types, including those restricted to the eyes, the skin or both owl:Class PO:0025497 biolink:NamedThing collective plant structure A plant structure (PO:0009011) that is a proper part of a whole plant (PO:0000003) and includes two or more adjacent plant organs (PO:0009008) or adjacent cardinal organ parts (PO:0025001), along with any associated portions of plant tissue (PO:0009007). tmpaxzxjjyw_mondo_relaxed.owl 集合的植物構造 (Japanese, exact)|estructura vegetal colectiva (Spanish, exact) PO_GIT:479 This is a parent term to describe both collective organ part structure (PO:0025269) (e.g. septum), as well as collective plant organ structure (PO:0025007) (which was formerly named collective plant structure), for example shoot system (PO:0009006). Laurel_Cooper 2012-06-11T15:09:20Z plant_anatomy owl:Class MONDO:0009802 biolink:NamedThing osteodysplasty, precocious, of Danks, Mayne, and Kozlowski tmpaxzxjjyw_mondo_relaxed.owl Danks Mayne Kozlowski precocious osteodysplasty|osteodysplasty precocious of Danks Mayne and Kozlowski|osteodysplasty, precocious, of Danks, Mayne, and Kozlowski MESH:C564922|OMIM:259270|GARD:0008662|UMLS:C1850185 https://rarediseases.info.nih.gov/diseases/8662/osteodysplasty-precocious-of-danks-mayne-and-kozlowski owl:Class MONDO:0022769 biolink:NamedThing ciliary dyskinesia-bronchiectasis tmpaxzxjjyw_mondo_relaxed.owl GARD:0001362 https://rarediseases.info.nih.gov/diseases/1362/ciliary-dyskinesia-bronchiectasis owl:Class MONDO:0008430 biolink:NamedThing skeletal dysplasia with delayed epiphyseal and carpal bone ossification tmpaxzxjjyw_mondo_relaxed.owl skeletal dysplasia with delayed epiphyseal and carpal bone ossification MESH:C566687|UMLS:C1866939|OMIM:182255 owl:Class MONDO:0030899 biolink:NamedThing oculocutaneous albinism type 8 tmpaxzxjjyw_mondo_relaxed.owl oculocutaneous albinism, type 8|OCA8 Orphanet:597733|OMIM:619165 owl:Class GO:0006749 biolink:NamedThing glutathione metabolic process The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle. tmpaxzxjjyw_mondo_relaxed.owl oxidized glutathione reduction|glutathione metabolism owl:Class MONDO:0004216 biolink:NamedThing pineal region germinoma A germinoma that arises from the pineal gland. tmpaxzxjjyw_mondo_relaxed.owl pineal germinoma|germinoma DOID:7428|NCIT:C8712|UMLS:C0854912|MEDGEN:208928|Orphanet:91352|GARD:0002005 Editor note: we place the Orphanet class here rather than under CNS germinoma due to its relationship to pituitary hormone deficiency owl:Class UBERON:0007501 biolink:NamedThing arborizing epithelial duct system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010771 biolink:NamedThing histiocytoid cardiomyopathy Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium. tmpaxzxjjyw_mondo_relaxed.owl infantile histiocytoid cardiomyopathy|focal lipid cardiomyopathy|cardiomyopathy, infantile histiocytoid|isolated Cardiac lipidosis|oncocytic cardiomyopathy|congenital cardiomyopathy|cardiomyopathy, oncocytic|Arachnocytosis of the myocardium|myocardial hamartoma|foamy myocardial transformation of infancy|cardiomyopathy, focal Lipid|infantile xanthomatous cardiomyopathy|histiocytoid cardiomyopathy|Purkinje cell hamartoma|infantile cardiomyopathy with histiocytoid change|cardiomyopathy, infantile xanthomatous MESH:C535584|GARD:0009511|NCIT:C45745|UMLS:CN239812|ICD10:I42.0|DOID:0080198|Orphanet:137675|OMIM:212080|OMIM:500000|UMLS:C1708371 https://rarediseases.info.nih.gov/diseases/9511/infantile-histiocytoid-cardiomyopathy owl:Class MONDO:0002882 biolink:NamedThing colon neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the colon. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpaxzxjjyw_mondo_relaxed.owl colonic neuroendocrine neoplasm|neuroendocrine neoplasm of colon|colon neuroendocrine tumor, well differentiated, low or intermediate grade|colon neuroendocrine neoplasm|colonic neuroendocrine tumor|neuroendocrine neoplasm of the colon|colon neuroendocrine tumor|colon NET|neuroendocrine tumor of the colon DOID:4118|Orphanet:100080|NCIT:C5697|UMLS:C1333097 owl:Class MONDO:0017513 biolink:NamedThing split foot, unilateral tmpaxzxjjyw_mondo_relaxed.owl Orphanet:295124|ICD10:Q72.7 owl:Class GO:2001200 biolink:NamedThing positive regulation of dendritic cell differentiation Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002710 biolink:NamedThing negative regulation of T cell mediated immunity Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell mediated immunity. tmpaxzxjjyw_mondo_relaxed.owl downregulation of T cell mediated immunity|inhibition of T cell mediated immunity|negative regulation of T-cell mediated immunity|down regulation of T cell mediated immunity|negative regulation of T-lymphocyte mediated immunity|down-regulation of T cell mediated immunity|negative regulation of T lymphocyte mediated immunity owl:Class HGNC:3806 biolink:NamedThing FOXE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012659 biolink:NamedThing age related macular degeneration 9 Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene. tmpaxzxjjyw_mondo_relaxed.owl ARMD9|C3 age-related macular degeneration|age related macular degeneration type 9|age-related macular degeneration caused by mutation in C3|macular Degeneration, age-related, type 9|macular degeneration, age-related, 9 DOID:0110021|UMLS:C1969651|OMIM:611378|MESH:C566958 owl:Class MONDO:0005029 biolink:NamedThing essential thrombocythemia A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008) tmpaxzxjjyw_mondo_relaxed.owl essential thrombocythaemia|essential thrombocytosis|idiopathic thrombocythemia|primary thrombocytosis|essential thrombocythemia|hemorrhagic thrombocythemia|essential thrombocytemia|primary thrombocythemia|ET Orphanet:3318|UMLS:C0040028|OMIM:187950|ICD10:D47.3|OMIM:300331|SCTID:109994006|GARD:0006594|ONCOTREE:ET|OMIM:601977|ICDO:9962/3|ICD9:238.71|EFO:0000479|Orphanet:71493|MedDRA:10015493|DOID:2224|MESH:D013920|OMIM:614521|NCIT:C3407 https://rarediseases.info.nih.gov/diseases/6594/essential-thrombocythemia|https://github.com/monarch-initiative/mondo/issues/230 owl:Class MONDO:0032684 biolink:NamedThing intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl IMAGEI|INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY|Imagei Syndrome OMIM:618336 owl:Class MONDO:0014952 biolink:NamedThing intellectual disability-epilepsy-extrapyramidal syndrome tmpaxzxjjyw_mondo_relaxed.owl DYSEIDD|dyskinesia, seizures, and intellectual developmental disorder UMLS:C4310683|OMIM:617171|Orphanet:468620 owl:Class HGNC:1974 biolink:NamedThing CHUK tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006643 biolink:NamedThing membrane lipid metabolic process The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. tmpaxzxjjyw_mondo_relaxed.owl membrane lipid metabolism owl:Class MONDO:0054728 biolink:NamedThing spermatogenic failure 24 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 24|SPGF24 UMLS:CN244570|OMIM:617959 owl:Class MONDO:0100030 biolink:NamedThing adolescent/adult-onset epilepsy syndrome An epilepsy syndrome that has an onset during the adolescent or adult stage of life. tmpaxzxjjyw_mondo_relaxed.owl 2018-06-23 01:43:18+00:00 http://orcid.org/0000-0001-8486-0558 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class MONDO:0033012 biolink:NamedThing erythrokeratodermia variabilis et progressiva 2 tmpaxzxjjyw_mondo_relaxed.owl EKVP2|erythrokeratodermia variabilis ET progressiva 2 UMLS:C4479618|DOID:0080248|Orphanet:317|OMIM:617524 owl:Class HP:0000079 biolink:NamedThing Abnormality of the urinary system An abnormality of the urinary system. tmpaxzxjjyw_mondo_relaxed.owl Urinary tract abnormalities|Urinary tract anomalies|Urinary tract abnormality UMLS:C4021821 human_phenotype owl:Class HGNC:16255 biolink:NamedThing TGM6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012049 biolink:NamedThing orofaciodigital syndrome VII tmpaxzxjjyw_mondo_relaxed.owl oral-Facial-digital syndrome, type 7|orofaciodigital syndrome 7|Ofds 7|orofaciodigital syndrome type 7|orofaciodigital syndrome VII|orofaciodigital syndrome type VII|Whelan syndrome|OFD7 Orphanet:90649|UMLS:CN206429|OMIM:608518|MESH:C563104|UMLS:C0796100|DOID:0060377 owl:Class MONDO:0004490 biolink:NamedThing gestational uterine corpus choriocarcinoma A gestational choriocarcinoma that involves the body of uterus. tmpaxzxjjyw_mondo_relaxed.owl body of uterus gestational choriocarcinoma|gestational choriocarcinoma of body of uterus DOID:8187 owl:Class MONDO:0026777 biolink:NamedThing VEXAS syndrome An adult-onset inflammatory disease that affects only males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death. tmpaxzxjjyw_mondo_relaxed.owl VEXAS|vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome OMIM:301054|Orphanet:596753 owl:Class CL:0002081 biolink:NamedThing type II cell of carotid body This cell resembles a glia cell, express the glial marker S100 and act as a supporting cell to type I cell. This cell is located in a small cluster of type I and type II cells near the fork of the carotid artery. tmpaxzxjjyw_mondo_relaxed.owl sheath cell of carotid body FMA:84187 tmeehan 2010-06-30T04:23:42Z cell owl:Class CL:0002256 biolink:NamedThing supporting cell of carotid body A supportive cell that has characteristics of glial cell. Processes of this cell envelope the junctions between glomus cells and nerve endings. tmpaxzxjjyw_mondo_relaxed.owl carotid body sustentacular cell FMA:84188 tmeehan 2010-09-08T10:34:45Z cell owl:Class MONDO:0019336 biolink:NamedThing Gardner syndrome Gardner syndrome is a severe form of familial adenomatous polyposis characterized by multiple adenomas in the colon and rectum associated with prominent extracolonic features including osteomas and multiple skin and soft tissue tumors. tmpaxzxjjyw_mondo_relaxed.owl polyposis coli and multiple hard and soft tissue tumors|Gardner syndrome|Gardner's syndrome|intestinal polyposis, osteomas, sebaceous cysts MedDRA:10017727|GARD:0006482|ICD10:D12.6|OMIM:175100|SCTID:60876000|MESH:D005736|Orphanet:79665|UMLS:C0017097|ICD9:759.89|NCIT:C6728 owl:Class MONDO:0009938 biolink:NamedThing pulmonic stenosis tmpaxzxjjyw_mondo_relaxed.owl valvular pulmonic stenosis|pulmonic stenosis|pulmonary stenosis|pulmonic stenosis (disease) pulmonic stenosis (disease) GARD:0010071|HP:0001642|UMLS:C1956257|Orphanet:3189|OMIM:265500 owl:Class MONDO:0017220 biolink:NamedThing laryngotracheoesophageal cleft type 0 Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course. tmpaxzxjjyw_mondo_relaxed.owl LTEC0|laryngo-tracheo-esophageal cleft type 0 UMLS:CN202702|Orphanet:280205|ICD10:Q32.1 owl:Class MONDO:0019104 biolink:NamedThing Sandifer syndrome Sandifer syndrome is a paroxysmal dystonic movement disorder occurring in association with gastro-oesophageal reflux, and, in some cases, hiatal hernia. tmpaxzxjjyw_mondo_relaxed.owl Sandifer's syndrome MESH:C537234|MedDRA:10066142|GARD:0009684|NCIT:C113397|SCTID:230314007|UMLS:C0338465|Orphanet:71272 https://rarediseases.info.nih.gov/diseases/9684/sandifer-syndrome owl:Class HGNC:16912 biolink:NamedThing EMG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024685 biolink:NamedThing Philadelphia-positive myelogenous leukemia tmpaxzxjjyw_mondo_relaxed.owl Ph1-positive myelocytic leukemia|Philadelphia-positive granulocytic leukemia|Ph1-positive granulocytic leukemia|Ph1-positive myelogenous leukemia|Philadelphia-positive myelocytic leukemia|Ph1-positive myeloid leukemia|Philadelphia-positive myeloid leukemia|Philadelphia-positive myelogenous leukemia UMLS:C0023476|NCIT:C3177 owl:Class MONDO:0005478 biolink:NamedThing torsades de pointes A malignant form of polymorphic ventricular tachycardia that is characterized by heart rate between 200 and 250 beats per minute, and qrs complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long qt intervals exceeding 500 milliseconds or bradycardia. Torsades de pointes may be self-limited or may progress to ventricular fibrillation. tmpaxzxjjyw_mondo_relaxed.owl MESH:D016171|UMLS:C0040479|HP:0001664|SCTID:31722008|EFO:0005307 owl:Class MONDO:0006741 biolink:NamedThing encephalomalacia Localized atrophy of the brain parenchyma due to aging, hemorrhage, infarct, or inflammation. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000915|UMLS:C0014068|MedDRA:10051818|SCTID:58762006|DOID:2034|MESH:D004678|NCIT:C98920 owl:Class MONDO:0006394 biolink:NamedThing rectal tubular adenoma A usually polypoid neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features. tmpaxzxjjyw_mondo_relaxed.owl rectal tubular adenoma EFO:1000504|NCIT:C96477|UMLS:C3272804 owl:Class MONDO:0044354 biolink:NamedThing Rosai-Dorfman disease Rosai-Dorfman disease is a rare benign non-Langerhans cell histiocytosis characterized by the development of large painless histiocytic masses in the lymph nodes, predominantly of the cervical region. Extranodal involvement can also be observed, such as in the skin, respiratory tract, bones, genitourinary system, soft tissues, oral cavity, and central nervous system. Additional findings may include fever, malaise, epistaxis, night sweats, weight loss, leukocytosis, elevated erythrocyte sedimentation rate and hypergammaglobulinemia. tmpaxzxjjyw_mondo_relaxed.owl SHML|Destombes-RosaC/-Dorfman disease|Rosaï-Dorfman disease|sinus histiocytosis with massive lymphadenopathy|Rosaï-Dorfman-Destombes disease|RosaC/-Dorfman-Destombes disease|Destombes-Rosaï-Dorfman disease Orphanet:158014|MedDRA:10063397|ICD10:D76.3|ONCOTREE:RDD owl:Class MONDO:0018671 biolink:NamedThing IgG4-related kidney disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237737|Orphanet:449395|ICD10:N11.8 owl:Class MONDO:0014982 biolink:NamedThing myopia 25, autosomal dominant Any myopia (disease) in which the cause of the disease is a mutation in the P4HA2 gene. tmpaxzxjjyw_mondo_relaxed.owl myopia 25, autosomal dominant|myopia 25, autosomal dominant; MYP25|P4HA2 myopia (disease)|MYP25|myopia (disease) caused by mutation in P4HA2 UMLS:C4310655|OMIM:617238 owl:Class MONDO:0007392 biolink:NamedThing coxoauricular syndrome Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981. tmpaxzxjjyw_mondo_relaxed.owl coxoauricular syndrome GARD:0001558|MESH:C565148|Orphanet:1508|ICD10:Q87.1|SCTID:732248005|OMIM:122780|UMLS:C1852513 https://rarediseases.info.nih.gov/diseases/1558/coxoauricular-syndrome owl:Class MONDO:0000491 biolink:NamedThing limb ischemia A ischemia that involves the limb. tmpaxzxjjyw_mondo_relaxed.owl limb ischemia|ischemic disease of limb|limb ischemic disease SCTID:21631000119105|DOID:0050852|UMLS:C2945695 owl:Class MONDO:0044767 biolink:NamedThing childhood adrenal gland pheochromocytoma A rare pheochromocytoma of the adrenal gland that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood adrenal gland pheochromocytoma|pheochromocytoma, childhood|malignant childhood adrenal gland pheochromocytoma GARD:9368|UMLS:CN036354|DOID:0070325|NCIT:C118822|GTR:AN0102113|GARD:0009368 owl:Class HGNC:19963 biolink:NamedThing TTLL5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003555 biolink:NamedThing spinal cord pia mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016550 biolink:NamedThing congenital primary megaureter, obstructed form tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q62.2|Orphanet:238646 owl:Class MONDO:0005412 biolink:NamedThing duodenal ulcer An ulcer in the duodenal wall. tmpaxzxjjyw_mondo_relaxed.owl curling's ulcers|stress Ulcer|curling Ulcer|duodenal ulcer|duodenal ulcer (disease) duodenal ulcer (disease) DOID:1724|ICD9:532|ICD10:K26|SCTID:39755000|EFO:0004607|MESH:D004381|HP:0002588|NCIT:C26755 owl:Class MONDO:0021470 biolink:NamedThing benign neoplasm of pancreas A benign neoplasm that involves the pancreas. tmpaxzxjjyw_mondo_relaxed.owl benign pancreas neoplasm|pancreas tumor, benign|benign neoplasm of the pancreas|benign pancreatic tumor|pancreas benign neoplasm|pancreatic tumor, benign|pancreatic neoplasm, benign|benign tumor of pancreas|benign pancreas tumor|benign tumor of the pancreas|benign pancreatic neoplasm|pancreas neoplasm, benign UMLS:C0347284|SCTID:92264007|ICD10:D13.6|NCIT:C4612 owl:Class MONDO:0013942 biolink:NamedThing peroxisome biogenesis disorder 8A (Zellweger) tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder, complementation group 9|peroxisome biogenesis disorder, complementation group D|PBD8A|peroxisome biogenesis disorder 8A (Zellweger) UMLS:C3553959|DOID:0080483|OMIM:614876 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0005928 biolink:NamedThing post-thrombotic syndrome A condition characterized by a chronically swollen limb, often a leg with stasis dermatitis and ulcerations. This syndrome can appear soon after phlebitis or years later. Postphlebitic syndrome is the result of damaged or incompetent venous valves in the limbs. Distended, tortuous varicose veins are usually present. Leg pain may occur after long period of standing. tmpaxzxjjyw_mondo_relaxed.owl postphlebetic syndrome with ulcer and inflammation|postphlebitic syndrome|postphlebetic syndrome with ulcer|venous stress disorder|postphlebetic syndrome with inflammation ICD9:459.12|DOID:2364|ICD9:459.11|SCTID:20427003|ICD9:459.10|EFO:0007452|ICD9:459.1|MESH:D011186|ICD10:I87.0|ICD9:459.13 owl:Class HGNC:12811 biolink:NamedThing XK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0042602 biolink:NamedThing Samson-Viljoen syndrome tmpaxzxjjyw_mondo_relaxed.owl lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia|Samson Viljoen syndrome UMLS:C2931449|GARD:0000152|MESH:C537231 owl:Class HP:0011873 biolink:NamedThing Abnormal platelet count Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0580317|SNOMEDCT_US:165558001 peter 2012-05-30T08:11:13Z human_phenotype owl:Class HP:0001872 biolink:NamedThing Abnormal thrombocyte morphology An abnormality of platelets. tmpaxzxjjyw_mondo_relaxed.owl Platelet abnormalities|Blood platelet disease|Thrombasthenia SNOMEDCT_US:127566005|UMLS:C0151854|MSH:D013915|UMLS:C0040015|UMLS:C4020863|SNOMEDCT_US:32942005 Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. HP:0005554|HP:0004807 human_phenotype owl:Class MONDO:0012301 biolink:NamedThing mitochondrial DNA depletion syndrome, myopathic form Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial DNA depletion myopathy, Tk2-related|mitochondrial DNA depletion syndrome 2 (myopathic type)|mitochondrial DNA depletion syndrome type 2|MTDPS2|mitochondrial DNA depletion syndrome 2|mtDNA depletion syndrome, myopathic form MESH:C563698|DOID:0080120|ICD9:359.89|OMIM:609560|ICD10:G71.3|SCTID:703527003|Orphanet:254875|UMLS:C3501891 owl:Class MONDO:0004760 biolink:NamedThing urethral false passage tmpaxzxjjyw_mondo_relaxed.owl SCTID:74944002|DOID:9339|ICD10:N36.5|ICD9:599.4 owl:Class HGNC:9788 biolink:NamedThing RAB7A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035383 biolink:NamedThing lateral wall of nasopharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013762 biolink:NamedThing lipoic acid synthetase deficiency Lipoic acid synthetase deficiency is a rare condition that affects the mitochondria. Mitochondria are tiny structures found in almost every cell of the body. They are responsible for creating most of the energy necessary to sustain life and support growth. People affected by this condition generally experience early-onset lactic acidosis, severe encephalopathy, seizures, poor growth, hypotonia, and developmental delay. It is caused by changes (mutations) in the LIAS gene and it is inherited in an autosomal recessive pattern. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl HGCLAS|PDHLD|hyperglycinemia, lactic acidosis, and seizures|pyruvate dehydrogenase lipoic acid synthetase deficiency UMLS:C3280887|Orphanet:401859|GARD:0012678|OMIM:614462|ICD10:E88.8 https://rarediseases.info.nih.gov/diseases/12678/lipoic-acid-synthetase-deficiency owl:Class MONDO:0007800 biolink:NamedThing chromosome 18p deletion syndrome Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 18p|De Grouchy syndrome|deletion 18p syndrome|18p syndrome|partial monosomy of the short arm of chromosome 18|chromosome 18p deletion|chromosome 18p deletion syndrome|partial deletion of chromosome 18p|partial deletion of the short arm of chromosome 18|monosomy 18p|18p-|monosomy type 18p|partial deletion of the short arm of chromosome type 18 GARD:0008631|ICD10:Q93.5|UMLS:C0432442|DOID:0060406|MESH:C538309|Orphanet:1598|ICD9:758.39|SCTID:270890001|OMIM:146390|NCIT:C84521|Orphanet:261974 owl:Class MONDO:0009098 biolink:NamedThing dextrocardia with unusual facies and microphthalmia tmpaxzxjjyw_mondo_relaxed.owl dextrocardia, microphthalmia, cleft palate, choreoathetosis and mental retardation|dextrocardia, microphthalmia, cleft palate, choreoathetosis and intellectual disability|dextrocardia with unusual facies and microphthalmia|Aughton syndrome MESH:C538269|OMIM:221950|GARD:0000136|UMLS:C1857298 https://rarediseases.info.nih.gov/diseases/136/dextrocardia-with-unusual-facies-and-microphthalmia owl:Class FOODON:03412972 biolink:NamedThing food additive tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008462 biolink:NamedThing split lower lip tmpaxzxjjyw_mondo_relaxed.owl split lower lip|split Lower type lip OMIM:183400 owl:Class MONDO:0004592 biolink:NamedThing impetigo A contagious bacterial cutaneous infection that affects children and is usually caused by Staphylococcus aureus. It usually presents in the face with honey colored scabs. tmpaxzxjjyw_mondo_relaxed.owl ICD9:684|UMLS:C0021099|ICD10:L01.0|EFO:1000714|ICD10:L01.00|DOID:8504|MESH:D007169|NCIT:C99088|SCTID:48277006|ICD10:L01 owl:Class MONDO:0003426 biolink:NamedThing clear cell adenoma A benign neoplasm composed of glands containing epithelial clear cells. tmpaxzxjjyw_mondo_relaxed.owl adenoma, clear cell, benign|clear cell adenoma|clear cell adenoma (morphologic abnormality) UMLS:C0334315|DOID:5390|ICDO:8310/0|NCIT:C4151 owl:Class HP:0000864 biolink:NamedThing Abnormality of the hypothalamus-pituitary axis Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025819 HP:0000838|HP:0000844 human_phenotype owl:Class MONDO:0044350 biolink:NamedThing hyperparathyroidism, primary, caused by water clear cell hyperplasia tmpaxzxjjyw_mondo_relaxed.owl hyperparathyroidism, primary, caused by water clear cell hyperplasia MESH:C563982|Orphanet:99878|OMIM:600166 owl:Class MONDO:0018640 biolink:NamedThing secondary vasculitis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:445197 owl:Class MONDO:0023693 biolink:NamedThing maple syrup urine disease type 2 A maple syrup urine disease caused by mutations in DBT. tmpaxzxjjyw_mondo_relaxed.owl maple syrup urine disease type 2|MSUD type 2|MSUD2 GARD:0008596|HGNC:2698 https://rarediseases.info.nih.gov/diseases/8596/maple-syrup-urine-disease-type-2 owl:Class MONDO:0008182 biolink:NamedThing nasopalpebral lipoma-coloboma syndrome Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus. tmpaxzxjjyw_mondo_relaxed.owl nasopalpebral lipoma-coloboma syndrome|palpebral coloboma lipoma syndrome|Nasopalpebral lipoma coloboma syndrome|palpebral coloboma-lipoma syndrome|NASOPALPEBRAL lipoma-coloboma syndrome|NPLCS UMLS:C1868660|GARD:0003927|Orphanet:2399|OMIM:167730|MESH:C538338|SCTID:723411003|ICD10:Q10.3 https://rarediseases.info.nih.gov/diseases/3927/nasopalpebral-lipoma-coloboma-syndrome owl:Class UBERON:0004275 biolink:NamedThing third ventricle choroid plexus epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:4000032 biolink:NamedThing exposure to decreased water temperature A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of water. tmpaxzxjjyw_mondo_relaxed.owl exposure to decreased amount in temperature of water owl:Class MONDO:0012531 biolink:NamedThing xeroderma pigmentosum group B Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene. tmpaxzxjjyw_mondo_relaxed.owl xeroderma pigmentosum caused by mutation in ERCC3|XP, Group B|XP group B|xeroderma pigmentosum, type 2|ERCC3 xeroderma pigmentosum|xeroderma pigmentosum, complementation group type B|xeroderma pigmentosum group B|XPB/CS|xeroderma pigmentosum B/Cockayne syndrome|XPB|xeroderma pigmentosum group type B|XPBC|XP-B|xeroderma pigmentosum, complementation group B MESH:C562590|ICD10:Q82.1|NCIT:C3966|DOID:0110850|UMLS:C0268136|Orphanet:910|GARD:0005625|Orphanet:220295|SCTID:1073003|Orphanet:276252|OMIM:610651 owl:Class UBERON:0011745 biolink:NamedThing pulmonary valve leaflets tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018610 biolink:NamedThing early-onset posterior subcapsular cataract tmpaxzxjjyw_mondo_relaxed.owl Orphanet:441447|ICD10:H26.0|UMLS:CN237646 owl:Class MONDO:0001513 biolink:NamedThing pulsating exophthalmos tmpaxzxjjyw_mondo_relaxed.owl ICD10:H05.26|ICD9:376.35|DOID:12364|SCTID:2284002|UMLS:C0155271 owl:Class MONDO:0017690 biolink:NamedThing disorder of galactose metabolism tmpaxzxjjyw_mondo_relaxed.owl SCTID:237963003|ICD10:E74.2|Orphanet:308467|UMLS:C0342745 owl:Class MONDO:0017519 biolink:NamedThing symbrachydactyly of hand and foot, unilateral tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q73.8|Orphanet:295136|UMLS:CN203252 owl:Class MONDO:0015516 biolink:NamedThing symbrachydactyly of hands and feet Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails. tmpaxzxjjyw_mondo_relaxed.owl De Smet-Fabry-Fryns syndrome ICD10:Q73.8|Orphanet:1570 owl:Class MONDO:0021161 biolink:NamedThing gonococcal prostatitis An prostatitis (disease) caused by infection with Neisseria gonorrhoeae. tmpaxzxjjyw_mondo_relaxed.owl Neisseria gonorrhoeae prostatitis (disease)|Neisseria gonorrhoeae caused prostatitis (disease) SCTID:197967000|UMLS:C0341755 owl:Class MONDO:0021490 biolink:NamedThing benign neoplasm of sebaceous gland A benign neoplasm that involves the sebaceous gland. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of the sebaceous gland|benign sebaceous gland neoplasm|benign sebaceous tumor|benign sebaceous neoplasm|benign sebaceous skin neoplasm|benign sebaceous skin tumor|sebaceous gland benign neoplasm|benign sebaceous gland tumor|benign tumor of sebaceous gland|benign neoplasm of the sebaceous gland SCTID:92337009|UMLS:C0684358|NCIT:C8525 owl:Class MONDO:0006963 biolink:NamedThing sebaceous gland neoplasm A benign or malignant neoplasm that arises from the sebaceous glands. Representative examples include sebaceous adenoma and sebaceous carcinoma. tmpaxzxjjyw_mondo_relaxed.owl sebaceous neoplasm|sebaceous gland neoplasm|neoplasm of sebaceous gland|sebaceous gland tumor|sebaceous gland neoplasm (disease)|tumor of sebaceous gland|sebaceous tumor EFO:1001172|DOID:5759|SCTID:92337009|NCIT:C3363|UMLS:C3805742|UMLS:C0036503|ICD9:239.2|MESH:D012626|SCTID:126491004 owl:Class UBERON:0010060 biolink:NamedThing pharyngeal opening of pharyngotympanic tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004400 biolink:NamedThing malignant type A thymoma A type A thymoma which is characterized by an aggressive clinical course (capsular invasion, infiltration of the surrounding tissues) and can metastasize. tmpaxzxjjyw_mondo_relaxed.owl thymoma, medullary, malignant|malignant type A thymoma UMLS:C0279707|DOID:7927|ICDO:8581/3|NCIT:C7999 owl:Class MONDO:0002588 biolink:NamedThing thymoma type A A thymic epithelial neoplasm characterized by the presence of spindle and/or oval neoplastic epithelial cells. Lymphocytic infiltration is minimal or absent. It may be associated with myasthenia gravis or pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. Approximately 20% of the cases occur as stage II or stage III tumors. Type A thymoma generally behaves as a benign tumor and the overall survival is reported to be 100% at 5 and 10 years. tmpaxzxjjyw_mondo_relaxed.owl thymoma type A|primary thymic epithelial neoplasm type A|primary thymic epithelial tumor type A|medullary thymoma|thymoma, medullary|spindle cell thymoma UMLS:C1266091|NCIT:C6454|ICDO:8581/1|ICD10:C37|DOID:3279|ICD10:D15.0|Orphanet:263310 owl:Class MONDO:0008518 biolink:NamedThing calcaneonavicular coalition A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. tmpaxzxjjyw_mondo_relaxed.owl multiple synostosis syndrome|synostoses, tarsal, carpal and digital|synostoses, tarsal, carpal, and digital|calcaneonavicular coalition Orphanet:1412|ICD9:755.8|MESH:C538156|SCTID:62628008|UMLS:C0175700|DOID:14762|OMIM:186400|GARD:0009863 owl:Class UBERON:0004941 biolink:NamedThing submucosa of right hepatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012997 biolink:NamedThing cholestasis-pigmentary retinopathy-cleft palate syndrome Cholestasis- pigmentary retinopathy- cleft palate is a syndrome of multiple congenital malformations, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis etc) have also been reported. An overlap with Kabuki syndrome is debated. tmpaxzxjjyw_mondo_relaxed.owl Hardikar syndrome|HARDIKAR syndrome Orphanet:1415|UMLS:C0795969|GARD:0009280|OMIM:612726|MESH:C535632|SCTID:720636001 owl:Class MONDO:0003424 biolink:NamedThing oncocytic adenoma A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl oncocytoma|follicular adenoma, oxyphilic cell|oncocytic adenoma|oxyphilic adenoma EFO:1001079|ICDO:8290/0|UMLS:C1510502|NCIT:C3759|DOID:5389 owl:Class MONDO:0007120 biolink:NamedThing aniridia-absent patella syndrome Aniridia-absent patella is a syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975. tmpaxzxjjyw_mondo_relaxed.owl familial syndrome of aniridia and absence of the patella|aniridia and absent patella|aniridia absent patella ICD10:Q87.8|MESH:C566281|GARD:0000685|UMLS:C1862868|Orphanet:1069|OMIM:106220 https://rarediseases.info.nih.gov/diseases/685/aniridia-absent-patella owl:Class CL:1000412 biolink:NamedThing endothelial cell of arteriole An endothelial cell that is part of the arteriole. tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001097|FMA:67760 cell owl:Class UBERON:0003518 biolink:NamedThing main bronchus blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006979 biolink:NamedThing steatitis A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed) tmpaxzxjjyw_mondo_relaxed.owl DOID:4025|MESH:D013231|EFO:1001191|UMLS:C0038235|SCTID:33882007 owl:Class MONDO:0001827 biolink:NamedThing white piedra A superficial mycosis due to T beigelii that is characterized by a soft, friable, beige nodule of the distal ends of hair shafts. tmpaxzxjjyw_mondo_relaxed.owl Tinea blanca UMLS:C0031898|MESH:D010854|ICD9:111.2|SCTID:35586003|SCTID:402135006|ICD10:B36.2|UMLS:C0040249|DOID:13902 owl:Class MONDO:0017524 biolink:NamedThing polydactyly of a biphalangeal thumb, bilateral tmpaxzxjjyw_mondo_relaxed.owl preaxial polydactyly type 1, bilateral UMLS:CN203255|ICD10:Q69.1|Orphanet:295146 owl:Class MONDO:0016980 biolink:NamedThing ATR-X-related syndrome tmpaxzxjjyw_mondo_relaxed.owl ATR-X-related syndrome UMLS:CN202282|Orphanet:263355 owl:Class GO:2000241 biolink:NamedThing regulation of reproductive process Any process that modulates the frequency, rate or extent of reproductive process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010721 biolink:NamedThing reticuloendotheliosis, X-linked tmpaxzxjjyw_mondo_relaxed.owl reticuloendotheliosis, X-linked|reticuloendotheliosis UMLS:C0035288|MESH:C538362|GARD:0007559|OMIM:312500 owl:Class MONDO:0006524 biolink:NamedThing acrodermatitis chronica atrophicans An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. tmpaxzxjjyw_mondo_relaxed.owl primary diffuse atrophy|Herxheimer disease EFO:1000665|ICD9:701.8|UMLS:C0263421|DOID:0060344|SCTID:4340003|ICD10:L90.4|DERMO:0002165 owl:Class MONDO:0006523 biolink:NamedThing acrodermatitis An inflammatory skin condition affecting children. It is often associated with Epstein-Barr virus infection, hepatitis B infection or cytomegalovirus infection. It is characterized by the presence of cutaneous rashes and patches on the palms and soles. The trunk is not affected. tmpaxzxjjyw_mondo_relaxed.owl CSP:4008-0032|EFO:1000664|NCIT:C84532|GARD:0005722|SCTID:8197001|MESH:D000169|UMLS:C0001197|DOID:2722|ICD9:686.8 https://rarediseases.info.nih.gov/diseases/5722/acrodermatitis owl:Class MONDO:0016620 biolink:NamedThing primary hypertrophic osteoarthropathy A genetically and clinically heterogeneous inherited disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. There are two types of PHO: pachydermoperiostosis and cranio-osteoarthropathy. tmpaxzxjjyw_mondo_relaxed.owl PHOAR1|hypertropic osteoarthropathy, primary|Touraine-Solente-Gole syndrome|PHO|pachydermoperiostosis syndrome|hypertrophic osteoarthropathy, primary|PDP|pachydermoperiostosis of nail|pachydermoperiostosis of nail [ambiguous]|hypertrophic osteoarthropathy, primary, autosomal recessive, 1|pachydermoperiostosis|Touraine Solente Gole syndrome|idiopathic hypertrophic osteoarthropathy|hypertrophic osteoarthropathy, primary, autosomal recessive, type 1 OMIM:259100|Orphanet:1525|GARD:0007299|Orphanet:2796|Orphanet:248095|UMLS:C0029411|ICD10:M89.4|SCTID:88220006|NCIT:C85023|DOID:14283|UMLS:CN202658|MedDRA:10051686|OMIMPS:259100|OMIM:167100|MESH:D010004|OMIM:614441 owl:Class UBERON:0014543 biolink:NamedThing lumbar division of spinal cord central canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000405 biolink:NamedThing epithelial cell of appendix An epithelial cell that is part of the appendix. tmpaxzxjjyw_mondo_relaxed.owl epithelial cell of vermiform appendix|columnar epitheliocyte of appendix FMA:63602 cell owl:Class MONDO:0003822 biolink:NamedThing non-invasive bladder papillary urothelial neoplasm A papillary neoplasm of the urinary bladder in which the transitional cells form papillae. The papillary structures exhibit minimal architectural distortion and minimal atypia. Mitoses are infrequent. Patients are at an increased risk of developing new papillary lesions. Occasionally, the new lesions are urothelial carcinomas. tmpaxzxjjyw_mondo_relaxed.owl bladder papillary neoplasm of low malignant potential|papillary urothelial neoplasm of low malignant potential|non-invasive bladder papillary urothelial neoplasm|bladder PUNLMP DOID:6239|UMLS:C1518358|NCIT:C39831 owl:Class HP:0011283 biolink:NamedThing Abnormal metencephalon morphology An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the metencephalon UMLS:C4023432 peter 2012-01-01T01:24:14Z human_phenotype owl:Class NCBITaxon:6274 biolink:NamedThing Spirurina tmpaxzxjjyw_mondo_relaxed.owl Spirurida GC_ID:1 NCBITaxon:6294 ncbi_taxonomy owl:Class MONDO:0010048 biolink:NamedThing spastic paraplegia with myoclonic epilepsy tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia with myoclonic epilepsy MESH:C564810|UMLS:C1849114|OMIM:270805 owl:Class MONDO:0010159 biolink:NamedThing mismatch repair cancer syndrome 1 A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1. tmpaxzxjjyw_mondo_relaxed.owl brain tumor-polyposis syndrome 1|BTP1 syndrome|mismatch repair cancer syndrome 1|CMMR-D syndrome|mismatch repair deficiency|MMR deficiency|CNS tumors with familial polyposis of the colon|brain tumor-polyposis syndrome|MMRCS1|CMMR-D|childhood cancer syndrome|constitutional mismatch repair deficiency syndrome|constitutional MIS-match repair deficiency syndrome|glioma-polyposis syndrome|mismatch repair cancer syndrome|Turcot syndrome|malignant tumors of the central nervous system associated with familial polyposis of the colon|MMRCS NCIT:C130202|UMLS:C4321324|SCTID:61665008|Orphanet:252202|OMIM:276300|UMLS:C0265325|GARD:0000420|MESH:C536928 owl:Class MONDO:0018724 biolink:NamedThing X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:459070|UMLS:CN242161 owl:Class MONDO:0008522 biolink:NamedThing synovial chondromatosis, familial, with dwarfism tmpaxzxjjyw_mondo_relaxed.owl synovial chondromatosis, familial, with dwarfism|synovial chondromatosis, familial with dwarfism MESH:C566087|GARD:0007720|UMLS:C1861304|OMIM:186575 https://rarediseases.info.nih.gov/diseases/7720/synovial-chondromatosis-familial-with-dwarfism owl:Class HP:0100603 biolink:NamedThing Toxemia of pregnancy Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. tmpaxzxjjyw_mondo_relaxed.owl Toxaemia of pregnancy|Hypertensive disorder of pregnancy UMLS:C0032914|SNOMEDCT_US:398254007|SNOMEDCT_US:15394000|MSH:D011225 doelkens 2010-12-27T05:27:41Z human_phenotype owl:Class MONDO:0003308 biolink:NamedThing pleural mesothelioma A neoplasm that arises from the mesothelial cells of the pleura. The primary cause is exposure to asbestos. The major histologic variants are the epithelioid malignant mesothelioma, desmoplastic malignant mesothelioma, and sarcomatoid malignant mesothelioma. Patients present with persistent cough and shortness of breath. tmpaxzxjjyw_mondo_relaxed.owl pleura mesothelioma|pleural mesothelioma (disease)|mesothelioma of pleura|pleural mesothelioma (disease), benign|pleural mesothelioma|mesothelioma of the pleura|benign pleural mesothelioma HP:0100002|NCIT:C9351|EFO:1000485|DOID:5157|SCTID:109372009|ONCOTREE:PLMESO owl:Class MONDO:0018585 biolink:NamedThing pediatric arterial ischemic stroke tmpaxzxjjyw_mondo_relaxed.owl pediatric AIS|childhood arterial ischemic stroke|childhood AIS ICD10:I63.5|Orphanet:439175 owl:Class GO:0016505 biolink:NamedThing peptidase activator activity involved in apoptotic process Binds to and increases the activity of a peptidase that is involved in the apoptotic process. tmpaxzxjjyw_mondo_relaxed.owl apoptotic protease activator activity owl:Class MONDO:0008524 biolink:NamedThing syringomas, multiple tmpaxzxjjyw_mondo_relaxed.owl syringomas, multiple UMLS:C1861302|OMIM:186600|MESH:C566085 owl:Class HGNC:7325 biolink:NamedThing MSH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010550 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 2 X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. tmpaxzxjjyw_mondo_relaxed.owl Charcot Marie Tooth disease X-linked recessive 2|Charcot-Marie-Tooth neuropathy X-linked recessive 2|Charcot-Marie-Tooth disease X-linked recessive type 2|Charcot-Marie-Tooth neuropathy, X-linked recessive, 2|CMTX2|X-linked Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth disease, X-linked recessive, 2|CMTX 2 SCTID:763457000|DOID:0110208|ICD10:G60.0|MESH:C535302|UMLS:C1844873|Orphanet:101076|GARD:0001243|OMIM:302801 owl:Class NCBITaxon:2560074 biolink:NamedThing Mammantavirinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003928 biolink:NamedThing digestive system duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005047 biolink:NamedThing infertility disorder Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues. tmpaxzxjjyw_mondo_relaxed.owl sterile|sterility|infertility|fertility disorders|infertile|Sterile MESH:D007246|NCIT:C3836|DOID:5223|EFO:0000545 Editor note: dubious as to whether this is a disease as defined, check with clingen before obsoleting owl:Class MONDO:0018317 biolink:NamedThing growth retardation-mild developmental delay-chronic hepatitis syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204964|Orphanet:391366 owl:Class ECTO:9002130 biolink:NamedThing exposure to food preservative An exposure to food preservative. tmpaxzxjjyw_mondo_relaxed.owl exposure to food preservative owl:Class MONDO:0020686 biolink:NamedThing acute tonsillitis An acute inflammation of the tonsils caused by viruses or bacteria. Signs and symptoms include fever, enlargement of the tonsils, difficulty swallowing, and enlargement of the regional lymph nodes. tmpaxzxjjyw_mondo_relaxed.owl infective tonsillitis|acute tonsillitis|acute adenoiditis SCTID:17741008|UMLS:C0001361|ICD9:463|NCIT:C97142 owl:Class HGNC:8527 biolink:NamedThing OXCT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007736 biolink:NamedThing HPA 1 Recognition polymorphism, beta-globin-related tmpaxzxjjyw_mondo_relaxed.owl HPA I RECOGNITION polymorphism, BETA-globin-related|HPA I RECOGNITION polymorphism, BETA-globin-RELATED|HPA1|restriction fragment length polymorphism, sickle cell Anemia-related OMIM:143020 owl:Class MONDO:0100425 biolink:NamedThing acute myeloid leukemia, KRAS gene mutation Any acute myeloid leukemia that has the chromosomal anomaly KRAS gene mutation. (A change in the nucleotide sequence of the KRAS gene.) tmpaxzxjjyw_mondo_relaxed.owl AML, c-K-ras Gene Mutation|AML, KRAS2 Gene Mutation|AML, KRAS gene mutation|AML, v-Ki-ras2 Kirsten Rat Sarcoma Viral Oncogene Homolog Gene Mutation|AML, KRAS-2 Gene Mutation|AML, KRAS Gene Mutation NCIT:C41361 owl:Class MONDO:0016792 biolink:NamedThing mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA tmpaxzxjjyw_mondo_relaxed.owl OXPHOS disease due to a large-scale single deletion of mitochondrial DNA|OXPHOS disease due to a large-scale single deletion of mtDNA|mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA 2022-03-01 UMLS:CN202049|Orphanet:254767 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: mitochondrial oxidative phosphorylation disorder' MONDO_0016387 owl:Class MONDO:0007086 biolink:NamedThing autosomal dominant Alport syndrome Autosomal dominant Alport syndrome isa genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. Alport syndrome can have different patterns of inheritance.Alport syndrome has autosomal dominant inheritance in about 5 percent of cases. People with this form of Alport syndrome have one mutation in either the COL4A3 or COL4A4 gene in each cell. tmpaxzxjjyw_mondo_relaxed.owl renal failure and sensorineural hearing loss|Alport syndrome, autosomal dominant|Alport syndrome dominant type Orphanet:88918|GARD:0000624|Orphanet:63|DOID:0110032|OMIM:104200|ICD10:Q87.8|SCTID:717766000 https://rarediseases.info.nih.gov/diseases/624/autosomal-dominant-alport-syndrome owl:Class UBERON:0006652 biolink:NamedThing muscular layer of vagina tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017522 biolink:NamedThing hyperphalangy, bilateral tmpaxzxjjyw_mondo_relaxed.owl supernumerary phalanx, bilateral|supernumerary phalanges, bilateral Orphanet:295142|ICD10:Q74.8 owl:Class MONDO:0017455 biolink:NamedThing hyperphalangy Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies. tmpaxzxjjyw_mondo_relaxed.owl supernumerary phalanges|supernumerary phalanx Orphanet:295002|SCTID:763535005|ICD10:Q74.8 owl:Class MONDO:0034099 biolink:NamedThing SYNGAP1-related developmental and epileptic encephalopathy A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). tmpaxzxjjyw_mondo_relaxed.owl Orphanet:544254 owl:Class MONDO:0014878 biolink:NamedThing patent ductus arteriosus 2 tmpaxzxjjyw_mondo_relaxed.owl patent ductus arteriosus 2; PDA2|patent ductus arteriosus 2|patent ductus arteriosus type 2|PDA2 UMLS:C4284595|OMIM:617035 owl:Class NCBITaxon:2750822 biolink:NamedThing unclassified Mycobacterium avium complex (MAC) tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0007840 biolink:NamedThing internal carotid artery, spontaneous dissection of tmpaxzxjjyw_mondo_relaxed.owl internal carotid artery, spontaneous dissection of OMIM:147820|UMLS:C1840073|MESH:C564125 owl:Class MONDO:0000610 biolink:NamedThing marantic endocarditis Formation of a non-infectious thrombus, referred to as vegetation, on previously undamaged endocardium. It usually occurs as a complication of connective-tissue diseases and cancers because of the associated hypercoagulable state (see thrombophilia). tmpaxzxjjyw_mondo_relaxed.owl non-bacterial thrombotic endocarditis|nonbacterial thrombotic endocarditis SCTID:57181007|MESH:D059905|DOID:0060068 owl:Class MONDO:0009550 biolink:NamedThing renal hypomagnesemia 3 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. tmpaxzxjjyw_mondo_relaxed.owl magnesium, defect in renal tubular transport of|hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium|hypomagnesemia 3, renal|isolated renal hypomagnesemia|FHHNC without severe ocular involvement|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included|hypercalciuria, childhood, self-limiting|renal hypomagnesemia type 3|primary hypomagnesemia caused by mutation in CLDN16|familial primary hypomagnesemia caused by mutation in CLDN16|familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement|primary hypomagnesemia due to defect in renal tubular transport of magnesium|CLDN16 primary hypomagnesemia|CLDN16 familial primary hypomagnesemia|HOMG3|hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis|hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium|hypomagnesemia, isolated renal MESH:C537153|Orphanet:31043|SCTID:725033008|ICD10:E83.4|DOID:0060880|OMIM:248250 owl:Class MONDO:0032745 biolink:NamedThing developmental delay with variable intellectual impairment and behavioral abnormalities tmpaxzxjjyw_mondo_relaxed.owl developmental delay with variable intellectual impairment and behavioral abnormalities|DDVIBA|DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES OMIM:618430 owl:Class MONDO:0012213 biolink:NamedThing hereditary spastic paraplegia 26 A rare, complex type of hereditary spastic paraplegia characterized by the onset in childhood/adolescence (ages 2-19) of progressive spastic paraplegia associated mainly with mild to moderate cognitive impairment and developmental delay, cerebellar ataxia, dysarthria, and peripheral neuropathy. Less commonly reported manifestations include skeletal abnormalities (i.e. pes cavus, scoliosis), dyskinesia, dystonia, cataracts, cerebellar signs (i.e. saccadic dysfunction, nystagmus, dysmetria), bladder disturbances, and behavioral problems. SPG26 is caused by mutations in the B4GALNT1 gene (12q13.3), encoding Beta-1, 4 N-acetylgalactosaminyltransferase 1. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia 26, autosomal recessive|hereditary spastic paraplegia type 26|spastic paraplegia 26|GM2 synthase deficiency|autosomal recessive spastic paraplegia type 26|SPG26|autosomal recessive spastic paraplegia 26 SCTID:726607007|GARD:0009587|DOID:0110777|UMLS:C1836632|OMIM:609195|ICD10:G11.4|UMLS:C4511959|Orphanet:101006|MESH:C536862 owl:Class HGNC:12310 biolink:NamedThing TRIP4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6990 biolink:NamedThing MECP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013028 biolink:NamedThing adenosine monophosphate deaminase deficiency Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterised by exercise-induced muscle pain, cramps and/or early fatigue. tmpaxzxjjyw_mondo_relaxed.owl AMP deaminase deficiency|myoadenylate deaminase deficiency OMIM:612874|SCTID:9105005|Orphanet:45|ICD10:G71.3|ICD9:277.2|MESH:C538234|OMIM:615511 owl:Class GO:0005766 biolink:NamedThing primary lysosome A lysosome before it has fused with a vesicle or vacuole. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005764 biolink:NamedThing lysosome A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010531 biolink:NamedThing contractures-ectodermal dysplasia-cleft lip/palate syndrome Contractures - ectodermal dysplasia - cleft lip/palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia. tmpaxzxjjyw_mondo_relaxed.owl Ladda-Zonana-Ramer syndrome|contractures ectodermal dysplasia cleft lip palate|arthrogryposis, ectodermal dysplasia, cleft LIP/palate, and developmental delay|Ladda Zonana Ramer syndrome|congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment ICD10:Q87.8|Orphanet:1484|SCTID:720746006|GARD:0001515|OMIM:301815 owl:Class MONDO:0019977 biolink:NamedThing parkinsonism with dementia of Guadeloupe Parkinsonism with dementia of Guadeloupe is characterised by symmetrical bradykinesia, predominantly axial rigidity, postural instability with early falls and cognitive decline with prominent features of frontal lobe dysfunction. tmpaxzxjjyw_mondo_relaxed.owl SCTID:715737004|ICD10:F02.3*|UMLS:CN206908|Orphanet:97355|ICD10:G20+ owl:Class MONDO:0016690 biolink:NamedThing pleomorphic xanthoastrocytoma A WHO grade ll astrocytic tumor with a relatively favorable prognosis. It is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. It presents in the superficial cerebral hemispheres and involves the meninges. It typically affects children and young adults. tmpaxzxjjyw_mondo_relaxed.owl PXA|pleomorphic Xantho-astrocytoma Orphanet:251607|NCIT:C4323|DOID:4852|UMLS:C0334586|GARD:0010631|ICD10:C79.1|ONCOTREE:PXA|ICD10:C71.9|ICDO:9424/3 https://rarediseases.info.nih.gov/diseases/10631/pleomorphic-xanthoastrocytoma owl:Class MONDO:0010090 biolink:NamedThing Summitt syndrome Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome. tmpaxzxjjyw_mondo_relaxed.owl Summitt syndrome|Summitt's acrocephalosyndactyly|recessive acrocephalosyndactyly with normal intelligence SCTID:733606001|ICD10:Q82.0|Orphanet:3210|MESH:C538142|UMLS:C1802405|OMIM:272350|GARD:0000127 https://rarediseases.info.nih.gov/diseases/127/summitt-syndrome owl:Class MONDO:0044715 biolink:NamedThing metopic ridging-ptosis-facial dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:502430 owl:Class UBERON:0037459 biolink:NamedThing hair of limb tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017326 biolink:NamedThing infective dermatitis associated with HTLV-1 A rare and severe chronic disease characterized by recurrent chronic eczema (with erythematous, scaly and crusted lesions) mainly affecting seborrheic areas (e.g. scalp, forehead, eyelids, paranasal and periauricular skin, neck, axillae, and groin), a generalized fine papular rash, chronic nasal discharge with crusting of the anterior nares, and non-virulent Staphylococcus aureus or beta-hemolytic Streptococcus infections, thought to be a result of HTLV-1-induced immunosuppression. Lymphadenopathy, anemia, mild to moderate pruritus and increased incidence of other infections (e.g. crusted scabies) have also been reported in some patients. Patients may subsequently develop other HTLV-1 associated conditions such as adult T-cell leukemia/lymphoma and tropical spastic paraparesis. tmpaxzxjjyw_mondo_relaxed.owl infective dermatitis associated with human T-lymphotropic virus type I|infective dermatitis associated with human T-lymphotropic virus type 1|IDH|IDH Gene family|isocitrate dehydrogenase Gene family ICD10:L30.3|NCIT:C129260|UMLS:CN202966|Orphanet:289347 owl:Class MONDO:0600009 biolink:NamedThing severe hypophosphatasia Severe hypophosphatasia is a rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. Individuals often present with these features in infancy or in the perinatal period. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-5460-8025 owl:Class HP:0011849 biolink:NamedThing Abnormal bone ossification Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. tmpaxzxjjyw_mondo_relaxed.owl Abnormal bone maturation UMLS:C4280317|MP:0008271|UMLS:C4023161 All bones are formed by the replacement by osteocytes of mesenchyme-derived connective tissue. Intramembranous ossification refers to the direct replacement of primitive mesenchyme with bone, and is responsible for bones such as the calvarium (e.g., frontals, parietals, interparietal) and the clavicula. In endochondral ossification, the mesenchyme differentiates into a cartilaginous intermediate, which serves as a template (anlange) that is subsequently removed and replaced by bone. Most bones are formed via endochondral ossification, including those at the base of the skull, the vertebral column, pectoral and pelvic regions and long bones of the extremities. A reduction in the amount of mineralized bone compared with that expected for a given developmental age. In clinicakl parlance, reduced ossification and delayed ossification are often used synonymously, but in principle a bone delayed ossification in a child can display normal ossification at a later developmental stage. The HPO will therefore treat poor, reduced, and decreased officiation as synonymous, and delayed ossification as a specific kind of reduced ossification. peter 2012-05-15T07:39:58Z human_phenotype owl:Class HP:0003330 biolink:NamedThing Abnormal bone structure Any anomaly in the composite material or the layered arrangement of the bony skeleton. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025630 human_phenotype owl:Class MONDO:0016894 biolink:NamedThing partial deletion of the short arm of chromosome 16 tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome 16p|partial deletion of the short arm of chromosome type 16|partial monosomy of chromosome 16p|partial monosomy of the short arm of chromosome 16 Orphanet:261956|ICD10:Q93.5 owl:Class MONDO:0013916 biolink:NamedThing nephronophthisis 14 Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene. tmpaxzxjjyw_mondo_relaxed.owl nephronophthisis type 14|nephronophthisis 14|Joubert syndrome 19|ZNF423 nephronophthisis (disease)|nephronophthisis (disease) caused by mutation in ZNF423|NPHP14 DOID:0111122|OMIM:614844|UMLS:C3539071|Orphanet:2318 owl:Class HGNC:15974 biolink:NamedThing TRIM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19189 biolink:NamedThing DOCK6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017336 biolink:NamedThing fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency tmpaxzxjjyw_mondo_relaxed.owl fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency|fatal infantile HCM due to mitochondrial complex I deficiency|fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency ICD10:I42.2|Orphanet:289527 owl:Class MONDO:0006156 biolink:NamedThing colon sessile serrated adenoma/polyp A polyp that arises from the colon. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colonic adenocarcinomas with microsatellite instability. tmpaxzxjjyw_mondo_relaxed.owl colon sessile serrated polyp|colon SSA|colon sessile serrated adenoma/polyp|colon SSP|colon sessile serrated adenoma|colon SSA/P EFO:1000189|UMLS:C3272791|NCIT:C96464 owl:Class HGNC:5962 biolink:NamedThing IL10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29017 biolink:NamedThing PLEKHM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901999 biolink:NamedThing homogentisate metabolic process The chemical reactions and pathways involving homogentisate. tmpaxzxjjyw_mondo_relaxed.owl homogentisate metabolism owl:Class MONDO:0022749 biolink:NamedThing non-neoplastic nevus A abnormal, congenital formation or mark on the skin or neighboring mucosa that does not show neoplastic growth. tmpaxzxjjyw_mondo_relaxed.owl non-neoplastic nevus|Non-neoplastic nevus|Non-Neoplastic Nevus NCIT:C3937|UMLS:C0265027|ICD9:448.1|SCTID:195381005 owl:Class MONDO:0001148 biolink:NamedThing iliac vein thrombophlebitis A thrombophlebitis that involves the iliac vein. tmpaxzxjjyw_mondo_relaxed.owl iliac vein thrombophlebitis|phlebitis and thrombophlebitis of the iliac vein|thrombophlebitis of iliac vein ICD10:I80.21|DOID:10880|SCTID:42861008|ICD9:451.81|UMLS:C0347887 owl:Class MONDO:0002800 biolink:NamedThing thrombophlebitis Inflammation of the veins associated with the presence of a thrombus. tmpaxzxjjyw_mondo_relaxed.owl thrombophlebitis of a superficial leg vein|phlebitis and thrombophlebitis of superficial vessels of lower extremities|thrombophlebitis of superficial veins of lower extremity|superficial thrombophlebitis of leg ICD9:451.0|NCIT:C3410|DOID:3875|ICD9:451.2|MESH:D013924|UMLS:C0040046|ICD10:I80.0|SCTID:40283005 owl:Class MONDO:0009180 biolink:NamedThing junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa, non-Herlitz (JEB-nH) is a subtype of junctional epidermolysis bullosa (JEB) characterized by the presence of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa Junctionalis, Disentis type|epidermolysis bullosa Junctionalis, non-Herlitz type|epidermolysis bullosa, junctional, non-Herlitz type|epidermolysis bullosa Junctionalis, progressive|JEN-nH|epidermolysis bullosa, generalized atrophic benign|epidermolysis bullosa Junctionalis, severe Nonlethal|epidermolysis bullosa, junctional, Localisata variant|junctional epidermolysis bullosa inversa|JEB-nH|JEB-I UMLS:C0079301|Orphanet:79405|Orphanet:251393|UMLS:C2673610|ICD9:757.39|Orphanet:89840|OMIM:226650|Orphanet:79402|ICD10:Q81.8|SCTID:33662006|GARD:0002151|UMLS:C2673609 owl:Class MONDO:0001950 biolink:NamedThing corneal ectasia tmpaxzxjjyw_mondo_relaxed.owl ICD9:371.71|SCTID:14748007|ICD10:H18.71|UMLS:C0155135|DOID:1436 owl:Class MONDO:0043475 biolink:NamedThing Adams-Stokes syndrome An episode of sudden and transient loss of consciousness sometimes associated with seizures. It is caused by a sudden decrease of the cardiac output that results from a sudden cardiac dysrhythmia. Typically patients develop an initial pallor, followed by facial flush during recovery. tmpaxzxjjyw_mondo_relaxed.owl Stokes-Adams syndrome|Stokes Adams attacks|syndrome, Stokes-Adams|Stokes Adams syndrome|Adam Stokes attacks|Stokes-Adams attacks|attacks, Stokes-Adams|Adam-Stokes attacks|syndrome, Adams-Stokes|Stokes-Adams-morgagni syndrome|attacks, Adam-Stokes|Adams Stokes syndrome MESH:D000219|UMLS:C0001396|NCIT:C79765|EFO:1001259|SCTID:46935006 owl:Class HP:0025033 biolink:NamedThing Abnormality of digestive system morphology A structural anomaly of the digestive system. tmpaxzxjjyw_mondo_relaxed.owl 2016-08-27 13:58:23+00:00 HPO:probinson human_phenotype owl:Class HGNC:18183 biolink:NamedThing GIPC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007689 biolink:NamedThing guanylate kinase 3 tmpaxzxjjyw_mondo_relaxed.owl guanylate kinase 3|guanylate KINASE 3|GUK3|guanylate kinase type 3 OMIM:139290 owl:Class GO:0050795 biolink:NamedThing regulation of behavior Any process that modulates the frequency, rate or extent of behavior, the internally coordinated responses (actions or inactions) of whole living organisms (individuals or groups) to internal or external stimuli. tmpaxzxjjyw_mondo_relaxed.owl regulation of behaviour owl:Class OBO:CHR_9606-chr2p16.1-p15 biolink:NamedThing 2p16.1-p15 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class GO:0055025 biolink:NamedThing positive regulation of cardiac muscle tissue development Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle tissue development. tmpaxzxjjyw_mondo_relaxed.owl stimulation of cardiac muscle development|activation of cardiac muscle development|up regulation of cardiac muscle development|positive regulation of heart muscle development|upregulation of cardiac muscle development|up-regulation of cardiac muscle development owl:Class CHEBI:26895 biolink:NamedThing tetracyclines A subclass of polyketides having an octahydrotetracene-2-carboxamide skeleton, substituted with many hydroxy and other groups. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:26188 biolink:NamedThing polyketide Natural and synthetic compounds containing alternating carbonyl and methylene groups ('beta-polyketones'), biogenetically derived from repeated condensation of acetyl coenzyme A (via malonyl coenzyme A), and usually the compounds derived from them by further condensations, etc. Considered by many to be synonymous with the less frequently used terms acetogenins and ketides. tmpaxzxjjyw_mondo_relaxed.owl polyketide|polyketides owl:Class MONDO:0030270 biolink:NamedThing lymphatic malformation 9 tmpaxzxjjyw_mondo_relaxed.owl lymphatic malformation 9|LMPHM9 OMIM:619319 owl:Class MONDO:0014931 biolink:NamedThing Alazami-Yuan syndrome tmpaxzxjjyw_mondo_relaxed.owl Alazami-Yuan syndrome; ALYUS|ALYUS|Alazami-Yuan syndrome OMIM:617126|UMLS:C4310702 owl:Class MONDO:0004249 biolink:NamedThing pediatric supratentorial ependymoma An ependymoma that arises from the supratentorial region of the brain and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood supratentorial ependymoma|pediatric supratentorial ependymoblastoma|supratentorial ependymoma|pediatric cerebral ependymoma UMLS:C0278650|NCIT:C9043|EFO:0008495|DOID:7502 owl:Class MONDO:0012193 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1G Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed. tmpaxzxjjyw_mondo_relaxed.owl LGMD1G|HNRNPDL autosomal dominant limb-girdle muscular dystrophy|limb-girdle muscular dystrophy, type 1G|limb-girdle muscular dystrophy type 1G|autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL|muscular dystrophy limb-girdle type 1G DOID:0110306|OMIM:609115|Orphanet:55596|ICD10:G71.0|SCTID:719990003|MESH:C563794|GARD:0012531 owl:Class MONDO:0060549 biolink:NamedThing congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay tmpaxzxjjyw_mondo_relaxed.owl congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay|CAKUTHED UMLS:C4539968|OMIM:617641 owl:Class MONDO:0033614 biolink:NamedThing spastic paraplegia 83, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl SPG83 OMIM:619027 owl:Class MONDO:0007277 biolink:NamedThing cataract-aberrant oral frenula-growth delay syndrome Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait. tmpaxzxjjyw_mondo_relaxed.owl Wellesley Carmen French syndrome|cataracts, aberrant oral frenula, and growth retardation|Wellesley-Carman-French syndrome|cataract, aberrant oral frenula, and growth retardation OMIM:115645|Orphanet:1373|MESH:C536691|SCTID:715988005|ICD10:Q87.8|GARD:0005554 owl:Class MONDO:0015935 biolink:NamedThing extragonadal germinoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:182127|MedDRA:10018207 owl:Class MONDO:0009573 biolink:NamedThing megaepiphyseal dwarfism tmpaxzxjjyw_mondo_relaxed.owl megaepiphyseal dwarfism GARD:0003444|OMIM:249230 https://rarediseases.info.nih.gov/diseases/3444/megaepiphyseal-dwarfism owl:Class NCBITaxon:1535325 biolink:NamedThing Candida/Lodderomyces clade tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:766764 biolink:NamedThing Debaryomycetaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005745 biolink:NamedThing optic foramen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002840 biolink:NamedThing eosinophilic gastritis An eosinophilic gastroenteritis that is characterized by inflammation of the stomach. tmpaxzxjjyw_mondo_relaxed.owl eosinophilic gastritis NCIT:C27052|ICD9:535.7|ICD9:535.40|SCTID:66329006|ICD9:535.70|DOID:4030|UMLS:C0267154 https://github.com/monarch-initiative/mondo/issues/403 owl:Class GO:1905879 biolink:NamedThing regulation of oogenesis Any process that modulates the frequency, rate or extent of oogenesis. tmpaxzxjjyw_mondo_relaxed.owl regulation of ovum development owl:Class MONDO:0007317 biolink:NamedThing chlorpropamide-alcohol flushing tmpaxzxjjyw_mondo_relaxed.owl CPAF|chlorpropamide-alcohol flushing|CHLORPROPAMIDE-alcohol flushing 2022-04-01 UMLS:C1861630|OMIM:118430 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class GO:0050796 biolink:NamedThing regulation of insulin secretion Any process that modulates the frequency, rate or extent of the regulated release of insulin. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019241 biolink:NamedThing pedal digit 1 or 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004176 biolink:NamedThing childhood extraosseous osteosarcoma An osteosarcoma arising from the soft tissue, and occurring during childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric extraskeletal osteosarcoma|extraosseous osteosarcoma of childhood|childhood extraskeletal osteosarcoma|pediatric extraosseous osteosarcoma|childhood extraosseous osteosarcoma UMLS:C1332968|NCIT:C27376|DOID:7297 owl:Class GO:0009161 biolink:NamedThing ribonucleoside monophosphate metabolic process The chemical reactions and pathways involving a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl ribonucleoside monophosphate metabolism owl:Class MONDO:0015581 biolink:NamedThing bile acid synthesis defect with cholestasis and malabsorption tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:163631|ICD10:K76.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn disorder of bile acid synthesis' MONDO_0019218 owl:Class MONDO:0006173 biolink:NamedThing conjunctival squamous cell carcinoma A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain. tmpaxzxjjyw_mondo_relaxed.owl invasive squamous cell carcinoma of the conjunctiva|conjunctiva squamous cell carcinoma|conjunctival squamous cell carcinoma|conjunctival squamous cell cancer|squamous cell carcinoma of conjunctiva|epidermoid carcinoma of conjunctiva|ocular surface squamous neoplasia|conjunctiva epidermoid carcinoma|epidermoid carcinoma of the conjunctiva|conjunctival epidermoid carcinoma|squamous cell carcinoma of the conjunctiva NCIT:C4549|EFO:1000206|SCTID:255003007|UMLS:C0346359|DOID:1748 owl:Class MONDO:0014260 biolink:NamedThing immunodeficiency, common variable, 10 Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene. tmpaxzxjjyw_mondo_relaxed.owl Deficit in anterior pituitary function and variable immunodeficiency|NFKB2 common variable immunodeficiency|immunodeficiency, common variable, type 10|immunodeficiency, common variable, 10|immunodeficiency, common variable, with central adrenal insufficiency|common variable immunodeficiency caused by mutation in NFKB2|CVID10 Orphanet:293978|Orphanet:1572|UMLS:C3809991|OMIM:615577 owl:Class MONDO:0032855 biolink:NamedThing neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies tmpaxzxjjyw_mondo_relaxed.owl NEDDFSA|NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES OMIM:618659 owl:Class MONDO:0004066 biolink:NamedThing intermediate cell type ciliary body melanoma Ciliary body melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. tmpaxzxjjyw_mondo_relaxed.owl intermediate cell type uveal melanoma of ciliary body|Intermediate cell type ciliary body melanoma|ciliary body intermediate cell type uveal melanoma NCIT:C6118|UMLS:C1334209|DOID:6997 owl:Class UBERON:0001194 biolink:NamedThing splenic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007252 biolink:NamedThing Gordon syndrome Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. tmpaxzxjjyw_mondo_relaxed.owl camptodactyly, cleft palate, and clubfoot|arthrogryposis distal type 3|arthrogryposis, distal, type 3|DA3|Gordon syndrome|distal arthrogryposis type IIA|camptodactyly-cleft palate-clubfoot syndrome|distal arthrogryposis type 3|arthrogryposis multiplex congenita, distal, type 2A OMIM:114300|MESH:C537288|GARD:0002553|ICD9:579.8|UMLS:C0220666|Orphanet:376|ICD10:Q68.8|SCTID:237850008 https://rarediseases.info.nih.gov/diseases/2553/gordon-syndrome owl:Class MONDO:0008992 biolink:NamedThing Juberg-Hayward syndrome Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl cleft lip/palate-abnormal thumbs-microcephaly syndrome|cleft LIP/palate with abnormal thumbs and microcephaly|Juberg-Hayward syndrome|Orocraniodigital syndrome|JHS Orphanet:2319|GARD:0003060|MESH:C537690|ICD10:Q87.0|OMIM:216100|SCTID:721874001|UMLS:C0796099 https://rarediseases.info.nih.gov/diseases/3060/juberg-hayward-syndrome owl:Class UBERON:0010948 biolink:NamedThing cleidooccipital muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006314 biolink:NamedThing nasal cavity polyp A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection. tmpaxzxjjyw_mondo_relaxed.owl polyp of nasal cavity|nasal polyp|polyp of the nasal cavity|nasal cavity polyp ICD9:471.0|ICD9:471.9|UMLS:C0027430|NCIT:C3256|SCTID:52756005|EFO:1000391|MESH:D009298 owl:Class MONDO:0007812 biolink:NamedThing ichthyosis, lamellar, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl lamellar ichthyosis, autosomal dominant|ichthyosis lamellar, autosomal dominant|ichthyosis, lamellar, autosomal dominant OMIM:146750|Orphanet:313|MESH:C537263|SCTID:254164007|GARD:0009735 https://rarediseases.info.nih.gov/diseases/9735/ichthyosis-lamellar-autosomal-dominant owl:Class MONDO:0010799 biolink:NamedThing deafness, aminoglycoside-induced tmpaxzxjjyw_mondo_relaxed.owl mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure|mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure|aminoglycoside-induced deafness|mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure|mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure|streptomycin ototoxicity|deafness, aminoglycoside-induced|aminoglycoside-induced hearing loss|mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure|mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure|deafness, streptomycin-induced|mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure UMLS:C1838854|OMIM:580000|Orphanet:168609|MESH:C564013|DOID:0111734 owl:Class HGNC:16902 biolink:NamedThing BCKDK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008065 biolink:NamedThing nasal groove, familial transverse tmpaxzxjjyw_mondo_relaxed.owl nasal groove, familial transverse OMIM:161500|UMLS:C1834370 owl:Class HGNC:11021 biolink:NamedThing SLC35A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003675 biolink:NamedThing posterolateral myocardial infarction An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posterolateral wall of the heart. tmpaxzxjjyw_mondo_relaxed.owl DOID:5851|NCIT:C35672 owl:Class MONDO:0001750 biolink:NamedThing non-renal secondary hyperparathyroidism tmpaxzxjjyw_mondo_relaxed.owl DOID:13575|ICD9:252.02 owl:Class GO:0010957 biolink:NamedThing negative regulation of vitamin D biosynthetic process Any process that decreases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020796 biolink:NamedThing Silver-Russell syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl SRS1 OMIM:180860 owl:Class MONDO:0011095 biolink:NamedThing dilated cardiomyopathy 1D Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. tmpaxzxjjyw_mondo_relaxed.owl left ventricular noncompaction 6|dilated cardiomyopathy type 1D|CMD1D|cardiomyopathy, dilated, 1D|dilated cardiomyopathy 1D|familial isolated dilated cardiomyopathy caused by mutation in TNNT2|cardiomyopathy, dilated, type 1D|TNNT2 familial isolated dilated cardiomyopathy DOID:0110426|MESH:C563306|UMLS:C1832243|OMIM:601494|Orphanet:54260|Orphanet:154|ICD10:I42.0 owl:Class MONDO:0021357 biolink:NamedThing tumor of salivary gland A neoplasm (disease) that involves the saliva-secreting gland. tmpaxzxjjyw_mondo_relaxed.owl saliva-secreting gland neoplasm (disease)|salivary gland tumor|tumor of the salivary gland|neoplasm of salivary gland|saliva-secreting gland tumor|neoplasm of the salivary gland|tumor of saliva-secreting gland|saliva-secreting gland neoplasm|neoplasm of saliva-secreting gland|salivary gland neoplasm NCIT:C3361|SCTID:235132004|EFO:0003826 owl:Class UBERON:0016479 biolink:NamedThing capsule of liver tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017285 biolink:NamedThing penoscrotal transposition Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases). tmpaxzxjjyw_mondo_relaxed.owl congenital penoscrotal transposition|penoscrotal transposition (disease)|congenital transposition of the penis|Prepenile scrotum|penoscrotal transposition penoscrotal transposition (disease) Orphanet:2842|MESH:C536650|HP:0100600|ICD10:Q55.8|MedDRA:10067287|SCTID:312005008|GARD:0004273|UMLS:C1868854|NCIT:C99010 owl:Class MONDO:0010522 biolink:NamedThing X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. tmpaxzxjjyw_mondo_relaxed.owl AIH3|amelogenesis imperfecta 3, hypoplastic type, formerly|X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2|amelogenesis imperfecta 3, hypoplastic type (formerly)|enamel hypoplasia, X-linked|amelogenesis imperfecta type IE X-linked 2|amelogenesis imperfecta 3 hypoplastic type|AIH3 (formerly)|amelogenesis imperfecta 3, hypoplastic type|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2|X-linked enamel hypoplasia|amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2 Orphanet:100031|OMIM:301201|DOID:0110059|UMLS:C1845051|ICD10:K00.5|GARD:0009944 owl:Class NBO:0000339 biolink:NamedThing motor coordination "The coordination of combinations of body movements created with the kinematic (such as spatial direction) and kinetic (force) parameters that result in intended actions." [wikipedia:Motor_coordination] tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008702 biolink:NamedThing achondrogenesis type II Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage. tmpaxzxjjyw_mondo_relaxed.owl achondrogenesis, type II|achondrogenesis type 2|achondrogenesis type II|ACG2|achondrogenesis, type IB|achondrogenesis, Langer-Saldino type|chondrogenesis imperfecta|achondrogenesis, type 2|achondrogenesis, type IB, formerly|hypochondrogenesis Orphanet:93297|Orphanet:93296|DOID:0080056|OMIM:200610|Orphanet:932|MESH:C536017|GARD:0008713|ICD10:Q77.0 owl:Class MONDO:0004638 biolink:NamedThing lymphosarcoma An antiquated term that refers to a non-Hodgkin lymphoma composed of small and medium sized lymphocytes. tmpaxzxjjyw_mondo_relaxed.owl malignant lymphoma (category)|diffuse lymphoma|lymphosarcoma ICD9:200.10|NCIT:C26919|NCIT:C3211|ICD10:C85.0|GARD:0006946|SCTID:373168002|ICD9:200.7|SCTID:118601006|ICD10:C85.9|NCIT:C27824|DOID:8675|MESH:D008228|ICD9:200.0|ICD9:200.1|UMLS:C0024305|SCTID:188498009 https://rarediseases.info.nih.gov/diseases/6946/lymphosarcoma owl:Class MONDO:0000612 biolink:NamedThing lymphatic system cancer A malignant neoplasm involving the lymphatic part of lymphoid system tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of lymphatic part of lymphoid system|malignant lymphatic part of lymphoid system neoplasm|cancer of lymphatic part of lymphoid system|lymphatic part of lymphoid system cancer DOID:0060073 owl:Class MONDO:0100402 biolink:NamedThing acute myeloid leukemia, del(13q14-q21) Any acute myeloid leukemia that has the chromosomal anomaly del(13q14-q21). (A cytogenetic abnormality that refers to deletion of chromosome bands 14-21 on the long arm of chromosome 13.) tmpaxzxjjyw_mondo_relaxed.owl AML, del(13)(q14q21)|AML, del(13q14-q21)|AML, del(13)(q14-q21)|AML, del(13q)(13q14-21)|AML, 13q14-q21 Deletion NCIT:C168770 owl:Class MONDO:0008688 biolink:NamedThing WT limb-blood syndrome WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl WT limb-blood syndrome|WTsyndrome|radial-ulnar hypoplasia with bone marrow failure and/or leukemia|WT limb blood syndrome ICD10:D61.0|SCTID:719019000|MESH:C536751|OMIM:194350|GARD:0000039|UMLS:C1327917|Orphanet:3466 https://rarediseases.info.nih.gov/diseases/39/wt-limb-blood-syndrome owl:Class HP:0000050 biolink:NamedThing Hypoplastic male external genitalia Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). tmpaxzxjjyw_mondo_relaxed.owl Underdeveloped male genitalia|Small male external genitalia|Hypoplastic male genitalia UMLS:C1852534 HP:0008710|HP:0008721 human_phenotype owl:Class MONDO:0008566 biolink:NamedThing thyroid cancer, nonmedullary, 2 tmpaxzxjjyw_mondo_relaxed.owl NMTC2|thyroid cancer, nonmedullary, type 2|thyroid cancer, follicular|thyroid carcinoma, follicular|FTC|thyroid cancer, nonmedullary, 2 Orphanet:319487|MESH:C572845|OMIM:188470|GARD:0005206 owl:Class MONDO:0012708 biolink:NamedThing primary lateral sclerosis, adult, 1 tmpaxzxjjyw_mondo_relaxed.owl Pls, adult|PLSA1|primary lateral sclerosis, ADULT, 1 OMIM:611637|MESH:C566900|Orphanet:35689 owl:Class MONDO:0012888 biolink:NamedThing sarcoidosis, susceptibility to, 2 Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene. tmpaxzxjjyw_mondo_relaxed.owl SS2|susceptibility to sarcoidosis 2|BTNL2 sarcoidosis|sarcoidosis caused by mutation in BTNL2|sarcoidosis, susceptibility to, 2|sarcoidosis, susceptibility to, type 2 Orphanet:797|OMIM:612387 owl:Class MONDO:0015793 biolink:NamedThing moderate multiminicore disease with hand involvement tmpaxzxjjyw_mondo_relaxed.owl OMIM:117000|ICD10:G71.2|UMLS:C1861753|Orphanet:178145 owl:Class MONDO:0000748 biolink:NamedThing mastoiditis Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process. tmpaxzxjjyw_mondo_relaxed.owl mastoiditis (disease)|mastoid process of temporal bone inflammation|mastoiditis|inflammation of mastoid process of temporal bone|mastoid process of temporal boneitis mastoiditis (disease) NCIT:C128368|UMLS:C0024904|ICD10:H70.9|SCTID:52404001|MESH:D008417|ICD9:383.9|HP:0000265|ICD10:H70.90|DOID:0060322 owl:Class CHEBI:51422 biolink:NamedThing organodiyl group Any organic substituent group, regardless of functional type, having two free valences at carbon atom(s). tmpaxzxjjyw_mondo_relaxed.owl organodiyl groups owl:Class MONDO:0000929 biolink:NamedThing balloon cell malignant melanoma A rare variant of melanoma with a vertical growth phase. It presents as a nodular or polypoid skin lesion. It is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. The prognosis is similar to that of other melanomas matched for depth of invasion. tmpaxzxjjyw_mondo_relaxed.owl balloon cell melanoma|balloon cell malignant melanoma of the skin|balloon cell cutaneous (skin) melanoma|balloon cell skin melanoma|balloon cell malignant melanoma of skin|balloon cell malignant skin melanoma UMLS:C0334426|NCIT:C4227|ICDO:8722/3|DOID:10044|SCTID:403922007 owl:Class MONDO:0011086 biolink:NamedThing severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive A rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia. tmpaxzxjjyw_mondo_relaxed.owl severe combined immunodeficiency due to complete RAG1-2 deficiency|SCID due to complete RAG1-2 deficiency|severe combined immunodeficiency due to complete RAG1/2 deficiency|SCID due to complete RAG1/2 deficiency|severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|SCID, AR, T-cell negative, B-cell negative, NK cell-positive|severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive|SCID, T cell-negative, B cell-negative, NK cell-positive OMIM:601457|MESH:C563311|ICD10:D81.1|DOID:0090013|GARD:0010339|Orphanet:331206|UMLS:C1832322 owl:Class MONDO:0019153 biolink:NamedThing brain malformation-congenital heart disease-postaxial polydactyly syndrome Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay. tmpaxzxjjyw_mondo_relaxed.owl Goossens-Devriendt syndrome ICD10:Q87.8|SCTID:717943008|Orphanet:75389|UMLS:C4303545 owl:Class GO:0016773 biolink:NamedThing phosphotransferase activity, alcohol group as acceptor Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002252 biolink:NamedThing epithelial cell of esophagus An epithelial cell of the esophagus. tmpaxzxjjyw_mondo_relaxed.owl FMA:63071 tmeehan 2010-09-08T09:28:20Z CL:1000402 cell owl:Class CL:0002251 biolink:NamedThing epithelial cell of alimentary canal An epithelial cell of the musculomembranous digestive tube extending from the mouth to the anus. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-09-08T09:26:53Z cell owl:Class MONDO:0100214 biolink:NamedThing Rajab interstitial lung disease with brain calcifications tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:613658 http://orcid.org/0000-0001-5208-3432 owl:Class HP:0040211 biolink:NamedThing Abnormal skin morphology of the palm An abnormality of the skin of the palm, that is, the skin of the front of the hand. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4073159 HPO:skoehler human_phenotype owl:Class MONDO:0011424 biolink:NamedThing Carney triad Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas. tmpaxzxjjyw_mondo_relaxed.owl Carney triad|gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma ICD10:D44.8|Orphanet:139411|SCTID:733492003|UMLS:C1858592|OMIM:604287|GARD:0010924|NCIT:C94833|MESH:C565803 https://rarediseases.info.nih.gov/diseases/10924/carney-triad owl:Class MONDO:0003362 biolink:NamedThing cutaneous leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the skin. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl zone of skin leiomyosarcoma|skin leiomyosarcoma|cutaneous leiomyosarcoma (disease)|leiomyosarcoma of the skin|cutaneous leiomyosarcoma|leiomyosarcoma of zone of skin|leiomyosarcoma of skin cutaneous leiomyosarcoma (disease) SCTID:254771006|DOID:5273|HP:0006755|UMLS:C0346067|NCIT:C4484 owl:Class HGNC:3512 biolink:NamedThing EXT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:123737 biolink:NamedThing Oestrus ovis tmpaxzxjjyw_mondo_relaxed.owl sheep bot fly GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:123736 biolink:NamedThing Oestrus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010870 biolink:NamedThing tibial muscular dystrophy Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life. tmpaxzxjjyw_mondo_relaxed.owl tibial muscular dystrophy, tardive|TMD|Udd type distal myopathy|Tmd|tardive tibial muscular dystrophy|distal myopathy, Udd type|Finnish tibial muscular dystrophy|Udd myopathy|distal titinopathy OMIM:600334|Orphanet:609|SCTID:698846009|UMLS:C1838244|DOID:0111078|ICD10:G71.0|UMLS:C1450052 owl:Class MONDO:0014446 biolink:NamedThing Bardet-Biedl syndrome 18 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene. tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome type 18|BBS18|BBIP1 Bardet-Biedl syndrome|Bardet-Biedl syndrome 18|Bardet-Biedl syndrome caused by mutation in BBIP1 UMLS:C3806174|OMIM:615995|DOID:0110140|ICD10:Q87.89 owl:Class MONDO:0044746 biolink:NamedThing zoonotic bacterial infection A bacterial infection that is transmitted from animals to people. tmpaxzxjjyw_mondo_relaxed.owl zoonotic bacterial disease|Bacteria caused zoonoses|Bacteria zoonoses|zoonotic bacterial infection UMLS:C0311376|NCIT:C35373 owl:Class MONDO:0025481 biolink:NamedThing zoonosis An infectious disease of non-human animals that may be transmitted to humans or may be transmitted from humans to non-human animals, caused by a pathogen (an infectious agent, including bacteria, viruses, parasites, prions, etc). tmpaxzxjjyw_mondo_relaxed.owl disease, zoonotic|infectious diseases, zoonotic|zoonotic diseases|zoonoses|diseases, zoonotic|zoonotic infections|zoonotic infectious disease|diseases, zoonotic infectious|zoonotic infection|infectious disease, zoonotic|zoonotic disease|disease, zoonotic infectious|infection, zoonotic|zoonotic infectious diseases|infections, zoonotic MESH:D015047|NCIT:C35803|UMLS:C0043528|Wikipedia:Zoonosis owl:Class CHEBI:36358 biolink:NamedThing polyatomic ion An ion consisting of more than one atom. tmpaxzxjjyw_mondo_relaxed.owl polyatomic ions owl:Class HP:0012700 biolink:NamedThing Abnormal large intestine physiology A functional anomaly of the large intestine. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4022766 peter 2014-03-22T06:20:38Z human_phenotype owl:Class MONDO:0100380 biolink:NamedThing acute myeloid leukemia, t(4;11)(q21;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(4;11)(q21;q23). (A chromosomal abnormality consisting of the translocation of 4q21 with 11q23.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(4;11)(q21;q23.3)|AML, t(4;11)(q21;q23) NCIT:C36365 owl:Class MONDO:0021176 biolink:NamedThing autoimmune hepatitis type 2 Autoimmune hepatitis characterized by the presence of anti-liver kidney microsomal antibody type 1 (anti-LKM1) and/or anti-liver cytosol type 1 (anti-LC1) autoantibodies. tmpaxzxjjyw_mondo_relaxed.owl type 2 AIH|autoimmune hepatitis type 2 Orphanet:563581|SCTID:721712002|UMLS:C4303163 owl:Class UBERON:0011185 biolink:NamedThing gastrointestinal sphincter tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18037 biolink:NamedThing ARID2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008636 biolink:NamedThing double uterus-hemivagina-renal agenesis syndrome Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present. tmpaxzxjjyw_mondo_relaxed.owl Double uterus and obstructed hemivagina syndrome|uterus BICORNIS BICOLLIS with partial vaginal septum and unilateral HEMATOCOLPOS with ipsilateral renal agenesis|Herlyn-Werner syndrome|Wunderlich syndrome|OHVIRA syndrome|obstructed hemivagina and ipsilateral renal anomaly OMIM:192050|Orphanet:3411|SCTID:722431007|MESH:C566010 owl:Class MONDO:0017747 biolink:NamedThing disorder of fucoglycosan synthesis tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227193|Orphanet:309505|ICD10:E77.8 owl:Class MONDO:0019722 biolink:NamedThing glomerular disorder A disease involving the renal glomerulus. tmpaxzxjjyw_mondo_relaxed.owl glomerulopathy|renal glomerulus disease or disorder|renal glomerulus disease|disease or disorder of renal glomerulus|disorder of renal glomerulus|disease of renal glomerulus|glomerulopathies NCIT:C120887|GTR:AN0966176|UMLS:CN580795|ICD10:N00.N08|Orphanet:93548|SCTID:197679002 owl:Class MONDO:0008991 biolink:NamedThing Verloove Vanhorick-Brubakk syndrome Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. tmpaxzxjjyw_mondo_relaxed.owl cleft lip-limb and heart malformations syndrome|cleft limb heart malformation syndrome|cleft-limb-heart malformation syndrome syndrome|cleft-limb-heart malformation syndrome|Verloove Vanhorick Brubakk syndrome|Clh syndrome ICD10:Q87.8|UMLS:C1859082|GARD:0005482|MESH:C536541|Orphanet:3429|OMIM:215850|SCTID:764697003 https://rarediseases.info.nih.gov/diseases/5482/verloove-vanhorick-brubakk-syndrome owl:Class UBERON:0009639 biolink:NamedThing body of sphenoid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017830 biolink:NamedThing severe Canavan disease Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia. tmpaxzxjjyw_mondo_relaxed.owl infantile Canavan disease|neonatal Canavan disease UMLS:CN203803|ICD10:E75.2|Orphanet:314911 owl:Class CHEBI:38101 biolink:NamedThing organonitrogen heterocyclic compound Any organonitrogen compound containing a cyclic component with nitrogen and at least one other element as ring member atoms. tmpaxzxjjyw_mondo_relaxed.owl heterocyclic organonitrogen compounds|organonitrogen heterocyclic compounds owl:Class MONDO:0032577 biolink:NamedThing retinitis pigmentosa 83 tmpaxzxjjyw_mondo_relaxed.owl RETINITIS PIGMENTOSA 83|RP83 OMIM:618173 owl:Class MONDO:0020340 biolink:NamedThing bilateral perisylvian polymicrogyria tmpaxzxjjyw_mondo_relaxed.owl OMIM:616531|ICD10:Q04.3|GARD:0006011|OMIM:300388|Orphanet:98889|OMIM:615752 owl:Class HGNC:904 biolink:NamedThing AXIN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035805 biolink:NamedThing muscle layer of sigmoid colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010881 biolink:NamedThing limb cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007921 biolink:NamedThing yellow nail syndrome Yellow nail syndrome (YNS) is a very rare syndromic disorder characterized by the variable triad of characteristic yellow nails, chronic respiratory manifestations, and primary lymphedema. tmpaxzxjjyw_mondo_relaxed.owl lymphedema and Yellow nails|YNS|Yns|yellow nail syndrome|lymphedema with yellow nails ICD9:703.8|UMLS:C0221348|MESH:D056684|SCTID:400211001|OMIM:153300|ICD9:757.0|DOID:0050468|GARD:0000184|EFO:1001452|Orphanet:662|ICD10:L60.5|MedDRA:10048244|NCIT:C85238 https://rarediseases.info.nih.gov/diseases/184/yellow-nail-syndrome owl:Class MONDO:0006483 biolink:NamedThing urothelial dysplasia A morphologic finding indicating the presence of dysplastic changes in the transitional cell epithelium of the urinary tract. tmpaxzxjjyw_mondo_relaxed.owl urothelial dysplasia|transitional cell dysplasia of the urinary tract UMLS:C1275859|EFO:1000611|NCIT:C39856 This is a finding in NCIT. This class may be obsoleted and ceded to HPO in future. owl:Class MONDO:0019170 biolink:NamedThing polyarteritis nodosa Polyarteritis nodosa (PAN) is a rare, clinically heterogeneous, rheumatologic disease characterized by necrotizing inflammatory lesions affecting small- and medium-sized blood vessels. PAN most commonly affects skin, joints, peripheral nerves, the gut, and the kidney. tmpaxzxjjyw_mondo_relaxed.owl classical polyarteritis nodosa|polyarteritis nodosa|PAN|panarteritis nodosa|periarteritis|periarteritis nodosa|polyarteritis|classic polyarteritis nodosa|Küssmaul-Maier disease ICD9:446.0|DOID:9810|MESH:D010488|GARD:0007360|Orphanet:767|SCTID:155441006|ICD10:M30.0|NCIT:C26847|UMLS:C0031036|MedDRA:10036024 owl:Class MONDO:0008750 biolink:NamedThing microcephaly-albinism-digital anomalies syndrome Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. tmpaxzxjjyw_mondo_relaxed.owl Castro Gago-Pombo-Novo syndrome|albinism-microcephaly-digital anomalies syndrome|albinism-microcephaly digital anomalies syndrome|microcephaly-albinism-digital anomalies syndrome Orphanet:2513|UMLS:C1859910|OMIM:203340|MESH:C537322|ICD10:Q87.8|GARD:0003604|SCTID:719377004 https://rarediseases.info.nih.gov/diseases/3604/microcephaly-albinism-digital-anomalies-syndrome owl:Class MONDO:0004010 biolink:NamedThing infiltrating renal pelvis/ureter urothelial carcinoma tmpaxzxjjyw_mondo_relaxed.owl infiltrating ureter transitional cell carcinoma|infiltrating renal pelvis and ureter urothelial carcinoma|infiltrating renal pelvis and ureter transitional cell carcinoma NCIT:C39879|UMLS:C1512750 owl:Class MONDO:0021638 biolink:NamedThing low grade astrocytic tumor A grade I or grade II astrocytic tumor. This category includes pilocytic astrocytoma (grade I), subependymal giant cell astrocytoma (grade I), and diffuse astrocytoma (grade II). tmpaxzxjjyw_mondo_relaxed.owl low-grade astrocytic tumor|low grade astrocytic neoplasm|low grade astrocytic tumor|low-grade astrocytic neoplasm NCIT:C116342|UMLS:C3898569 owl:Class UBERON:0003530 biolink:NamedThing pedal digit skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011591 biolink:NamedThing cataract 26 multiple types A cataract that has material basis in variation in the region 9q13-q22. tmpaxzxjjyw_mondo_relaxed.owl cataract, autosomal recessive, early-onset, pulverulent|cataract 26, multiple types|CTRCT26 ICD10:Q12.0|UMLS:C1854003|OMIM:605749|Orphanet:98984|Orphanet:91492|DOID:0110246|MESH:C565298 owl:Class MONDO:0010446 biolink:NamedThing X-linked cone dysfunction syndrome with myopia X-linked cone dysfunction syndrome with myopia is characterised by moderate to high myopia associated with astigmatism and deuteranopia. Less than 10 families have been described so far. Transmission is X-linked recessive and the locus has been mapped to Xq28. tmpaxzxjjyw_mondo_relaxed.owl BORNHOLM eye disease|bed|Bornholm eye disease|myopia, high, with nonprogressive cone dysfunction OMIM:300843|UMLS:C3159311|ICD10:H53.8|SCTID:718718009|MESH:C564092|Orphanet:90001 owl:Class MONDO:0016398 biolink:NamedThing peroxisomal disease with epilepsy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN201329|Orphanet:225686 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: peroxisomal disease' MONDO_0019053 owl:Class CHEBI:24833 biolink:NamedThing oxoacid A compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). tmpaxzxjjyw_mondo_relaxed.owl oxoacid|oxacids|oxy-acids|oxiacids|oxoacids|oxyacids|oxo acid owl:Class MONDO:0002845 biolink:NamedThing necrotizing gastritis A variant of phlegmonous gastritis, typically progressing to gastric gangrene. tmpaxzxjjyw_mondo_relaxed.owl necrotizing gastritis DOID:4037|UMLS:C0877152|NCIT:C27329 owl:Class GO:0008456 biolink:NamedThing alpha-N-acetylgalactosaminidase activity Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-galactosamine residues in N-acetyl-alpha-D-galactosaminides. tmpaxzxjjyw_mondo_relaxed.owl alpha-galactosidase B activity|N-acetyl-alpha-D-galactosaminidase activity|alpha-N-acetyl-D-galactosaminide N-acetylgalactosaminohydrolase activity|N-acetyl-alpha-galactosaminidase activity|alpha-NAGA activity|alpha-acetylgalactosaminidase activity owl:Class MONDO:0013091 biolink:NamedThing glycogen storage disease IXc A liver PhK deficiency caused by variants in the PHKG2 gene tmpaxzxjjyw_mondo_relaxed.owl GSD9C|GSD type 9C|PHKG2-related glycogen storage disease type IX|glycogen storage disease type IXc|GSD IXc|PHKG2 glycogen storage disease|GSD type IXc|glycogen storage disease caused by mutation in PHKG2|glycogen storage disease IXc MESH:C567809|DOID:0111043|UMLS:C2751643|OMIM:613027 owl:Class MONDO:0014975 biolink:NamedThing autosomal recessive spastic paraplegia type 78 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia 78, autosomal recessive|hereditary spastic paraplegia caused by mutation in ATP13A2|SPG78|spastic paraplegia 78, autosomal recessive; SPG78|ATP13A2 hereditary spastic paraplegia OMIM:617225|UMLS:C4310662|Orphanet:513436 owl:Class MONDO:0023609 biolink:NamedThing le Marec-Bracq-Picaud syndrome tmpaxzxjjyw_mondo_relaxed.owl complex malformation syndrome with brachymesomelia GARD:0000171|MESH:C536997|UMLS:C2931385 https://rarediseases.info.nih.gov/diseases/171/le-marec-bracq-picaud-syndrome owl:Class CHEBI:38338 biolink:NamedThing aminopyrimidine A member of the class of pyrimidines that is pyrimidine substituted by at least one amino group and its derivatives. tmpaxzxjjyw_mondo_relaxed.owl aminopyrimidines owl:Class MONDO:0021033 biolink:NamedThing herpes zoster dermatitis Painful, localized rash caused by reactivation of latent varicella zoster virus residing in nerve cell bodies, with resulting infection of the skin in the region supplied by the affected nerve. tmpaxzxjjyw_mondo_relaxed.owl herpes zoster dermatitis NCIT:C35619 owl:Class MONDO:0006766 biolink:NamedThing gait apraxia Impaired ambulation not attributed to sensory impairment or motor weakness. frontal lobe disorders; basal ganglia diseases (e.g., parkinsonian disorders); dementia, multi-infarct; alzheimer disease; and other conditions may be associated with gait apraxia. tmpaxzxjjyw_mondo_relaxed.owl Gait apraxia (finding) DOID:4260|UMLS:C1510417|EFO:1000944|MESH:D020235|MedDRA:10070635 owl:Class MONDO:0000665 biolink:NamedThing apraxia Apraxia is a neurological disorder characterized by the inability to perform tasks or movements, despite having the desire and physical ability to perform them. It is caused by damage to the brain, especially the parietal lobe, and can arise from many diseases, tumors, a stroke, or traumatic brain injury. In some cases it is present from birth. There are several types of apraxia, which may occur alone or together. These include: Buccofacial or orofacial apraxia is the inability to carry out facial movements on demand. This may include licking the lips, sticking out the tongue, whistling, coughing, or winking. Ideational apraxia is the inability to carryout learned, complex tasks with multiple, sequential movements. This may include dressing, eating, and bathing. Ideomotor apraxia is the inability to perform a learned task (such as using a tool) or communicate using gestures (like waving good-bye). Limb-kinetic apraxia is the inability to make fine, precise movements with an arm or leg. This may include buttoning a shirt or tying a shoe. Verbal apraxia is difficulty coordinating mouth and speech movements. Verbal apraxia may be acquired or present from birth. Constructional apraxia is the inability to copy, draw, or construct simple figures. Oculomotor apraxia is difficulty moving the eyes on command. Treatment of apraxia may include physical, speech, or occupational therapy. If apraxia occurs as a symptom of another disorder, treatment should be directed to the underlying condition. tmpaxzxjjyw_mondo_relaxed.owl Apraxias|dyspraxia MESH:D001072|DOID:0060135|ICD10:R48.2|GARD:0005838 https://rarediseases.info.nih.gov/diseases/5838/apraxia owl:Class MONDO:0030088 biolink:NamedThing diabetes mellitus, permanent neonatal 3 tmpaxzxjjyw_mondo_relaxed.owl Developmental Delay, Epilepsy, and Neonatal Diabetes 2|DIABETES MELLITUS, PERMANENT NEONATAL 3|PNDM3|diabetes mellitus, permanent neonatal 3 OMIM:618857 owl:Class MONDO:0015022 biolink:NamedThing intellectual developmental disorder with dysmorphic facies and ptosis tmpaxzxjjyw_mondo_relaxed.owl intellectual developmental disorder with dysmorphic facies and ptosis; IDDDFP|intellectual developmental disorder with dysmorphic facies and ptosis|IDDDFP EFO:0009070|UMLS:C4310617|OMIM:617333 owl:Class CHEBI:25701 biolink:NamedThing organic oxide An oxide in which the oxygen atom is bonded to a carbon atom. tmpaxzxjjyw_mondo_relaxed.owl organic oxides owl:Class MONDO:0012701 biolink:NamedThing cataract 12 multiple types A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. tmpaxzxjjyw_mondo_relaxed.owl cataract 12, multiple types|CTRCT12 Orphanet:91492|ICD10:Q12.0|MESH:C566909|Orphanet:98992|DOID:0110239|OMIM:611597 owl:Class MONDO:0005383 biolink:NamedThing panic disorder An anxiety disorder characterized by multiple unexpected panic attacks with persistent concern of recurring attacks. Panic disorder may or may not be accompanied by agoraphobia. tmpaxzxjjyw_mondo_relaxed.owl panic anxiety syndrome DOID:594|OMIM:167870|SCTID:371631005|NCIT:C34890|OMIM:607853|OMIM:609985|UMLS:CN240645|MESH:D016584|ICD9:300.01|EFO:0004262 owl:Class GO:0003353 biolink:NamedThing positive regulation of cilium movement Any process that increases the rate, frequency, or extent of cilium movement, the directed, self-propelled movement of a cilium. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of flagellar movement|positive regulation of microtubule-based flagellum movement|positive regulation of flagellum movement owl:Class HP:0001510 biolink:NamedThing Growth delay A deficiency or slowing down of growth pre- and postnatally. tmpaxzxjjyw_mondo_relaxed.owl Growth failure|Growth retardation|Very poor growth|Delayed growth|Growth delay|Poor growth|Retarded growth|Growth deficiency UMLS:C0456070|SNOMEDCT_US:276617005|SNOMEDCT_US:59576002|UMLS:C1837385|UMLS:C0878787|UMLS:C3552463|SNOMEDCT_US:444896005|UMLS:C0151686 Poor or abnormally slow gains in weight or height in a child. HP:0008893|HP:0008870|HP:0001514|HP:0001434|HP:0008847|HP:0001517|HP:0001532|HP:0001512|HP:0008886|HP:0008926 human_phenotype owl:Class MONDO:0009553 biolink:NamedThing Plasmodium falciparum blood infection level tmpaxzxjjyw_mondo_relaxed.owl Plasmodium falciparum blood infection level|Plasmodium falciparum parasitemia|Pfbi 2022-04-01 OMIM:248310 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0019027 biolink:NamedThing otopalatodigital syndrome Otopalatodigital (OPD) syndrome is a form of frontootopalatodigital syndrome, characterized by deafness, cleft palate, and characteristic digital anomalies. OPD syndrome is divided into two forms based on severity: the milder form designated OPD type 1 (OPD1), and the more severe and often lethal form designated OPD type 2 (OPD2). OPD is an X-linked disorder. Two other genetic disorders with features overlapping OPD, frontometaphyseal dysplasia (FMD) and osteodysplasty, Melnick-Needles type (MNS) have been described; thus OPD1, OPD2, FMD, and MNS are allelic disorders. tmpaxzxjjyw_mondo_relaxed.owl oto-palato-digital syndrome|type 2 (Andre syndrome)|oto-palatal-digital syndrome|Taybi syndrome ICD10:Q87.0|Orphanet:669|GARD:0007293|OMIM:311300|OMIM:304120|SCTID:767130007|UMLS:CN205496 owl:Class UBERON:0011363 biolink:NamedThing cranial lymph vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032807 biolink:NamedThing neurodevelopmental disorder with visual defects and brain anomalies tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES|NEDVIBA OMIM:618547 owl:Class MONDO:0023019 biolink:NamedThing dwarfism bluish sclerae tmpaxzxjjyw_mondo_relaxed.owl GARD:0001984 https://rarediseases.info.nih.gov/diseases/1984/dwarfism-bluish-sclerae owl:Class MONDO:0004507 biolink:NamedThing atypical breast papilloma An intraductal papilloma of the breast characterized by the presence of focal epithelial atypia. tmpaxzxjjyw_mondo_relaxed.owl atypical breast papilloma DOID:8227|NCIT:C36089|UMLS:C1332346 owl:Class UBERON:0002128 biolink:NamedThing superior olivary complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000154 biolink:NamedThing protein secreting cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class GO:0060089 biolink:NamedThing molecular transducer activity A compound molecular function in which an effector function is controlled by one or more regulatory components. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010397 biolink:NamedThing severe neonatal-onset encephalopathy with microcephaly An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy. tmpaxzxjjyw_mondo_relaxed.owl severe congenital encephalopathy due to MECP2 mutation|encephalopathy, neonatal severe, due to MECP2 mutations|severe neonatal encephalopathy due to MECP2 mutations OMIM:300673|UMLS:C1968556|ICD10:Q02|NCIT:C132293|MESH:C566878|Orphanet:209370 owl:Class UBERON:0004456 biolink:NamedThing entire sense organ system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005379 biolink:NamedThing neurotic disorder A form of functional mental illness that manifests in distressed emotional reactions such as anxiety, obsessive thoughts, compulsive behaviors, or irrational fears. tmpaxzxjjyw_mondo_relaxed.owl Psychoneuroses|depressive neurosis|neurosis|neurotic depressive state|reactive depression|psychoneurosis|psychoneurosis NOS|neurotic depression reactive type|neuroses|neurotic depression|disorder, neurotic|disorders, neurotic|neurotic disorder NCIT:C34848|DOID:4964|MESH:D000275|ICD10:F34.1|SCTID:111475002|ICD9:300.89|MESH:D009497|EFO:0004257|ICD9:300.9|ICD10:F48.9 owl:Class ENVO:01001044 biolink:NamedThing soil environment An environmental system which has its properties and dynamics determined by soil. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019535 biolink:NamedThing drug-induced autoimmune hemolytic anemia Drug-induced autoimmune hemolytic anemia is a type of autoimmune hemolytic anemia (AIHA) that occurs as a reaction to therapeutic drugs, and can be due to various mechanisms. tmpaxzxjjyw_mondo_relaxed.owl drug-induced AIHA Orphanet:90037|SCTID:309742004|ICD10:D59.0 owl:Class HGNC:5212 biolink:NamedThing HSD17B3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003711 biolink:NamedThing brachiocephalic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007620 biolink:NamedThing copulation The act of sexual union between male and female, involving the transfer of sperm. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007618 biolink:NamedThing mating The pairwise union of individuals for the purpose of sexual reproduction, ultimately resulting in the formation of zygotes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0090032 biolink:NamedThing negative regulation of steroid hormone biosynthetic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroid hormones,compounds with a 1, 2, cyclopentanoperhydrophenanthrene nucleus that act as hormones. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011773 biolink:NamedThing upper jaw opening tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007707 biolink:NamedThing hemangiomas of small intestine A hemangioma that involves the small intestine. tmpaxzxjjyw_mondo_relaxed.owl hemangioma of small intestine|small intestine hemangioma|hemangiomas of small intestine MESH:C564201|UMLS:C1841654|OMIM:140900 owl:Class MONDO:0004116 biolink:NamedThing esophageal small cell neuroendocrine carcinoma An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells. tmpaxzxjjyw_mondo_relaxed.owl esophageal small cell NEC|esophageal Oat cell carcinoma|esophageal small cell carcinoma|small cell carcinoma of the esophagus|Oat cell carcinoma of the esophagus|small cell carcinoma of esophagus|esophageal small cell neuroendocrine carcinoma|esophagus Oat cell carcinoma|esophagus small cell carcinoma|Oat cell carcinoma of esophagus|small cell carcinoma, esophagus NCIT:C6762|UMLS:C1112474|DOID:7134 owl:Class PATO:0000261 biolink:NamedThing maturity A quality of a single physical entity which is held by a bearer when the latter exhibits a state of growth, differentiation, or development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016858 biolink:NamedThing blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome Blepharophimosis-epicanthus inversus-ptosis (BPES) due to a point mutation is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be accompanied by growth retardation and primary ovary failure. tmpaxzxjjyw_mondo_relaxed.owl blepharophimosis types 1 and 2 due to a point mutation ICD10:Q10.3|UMLS:CN202201|OMIM:110100|Orphanet:261572 owl:Class GO:0035235 biolink:NamedThing ionotropic glutamate receptor signaling pathway A series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex. Ends with regulation of a downstream cellular process, e.g. transcription. tmpaxzxjjyw_mondo_relaxed.owl ionotropic glutamate receptor signalling pathway owl:Class GO:0007215 biolink:NamedThing glutamate receptor signaling pathway A series of molecular signals initiated by the binding of glutamate to a glutamate receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. tmpaxzxjjyw_mondo_relaxed.owl glutamate signalling pathway|glutamate signaling pathway owl:Class MONDO:0005118 biolink:NamedThing human granulocytic ehrlichiosis A tick-borne, infectious disease caused by Anaplasma phagocytophilum, an obligate intracellular bacterium that is typically transmitted to humans by ticks of the Ixodes ricinus species complex. tmpaxzxjjyw_mondo_relaxed.owl infection by Anaplasma phagocytophilum|human anaplasmosis due to Anaplasma phagocytophilum|HGE|human ehrlichial infection, human granulocytic type|human granulocytic ehrlichiosis|human granulocytic anaplasmosis|human anaplasmosis caused by Anaplasma phagocytophilum EFO:0000777|SCTID:85708001|ICD9:082.49|GARD:0000071|DOID:0050025 owl:Class NCBITaxon:451868 biolink:NamedThing Pleosporomycetidae tmpaxzxjjyw_mondo_relaxed.owl PMID:17486979|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:147541 biolink:NamedThing Dothideomycetes tmpaxzxjjyw_mondo_relaxed.owl bitunicate ascomycetes|Loculoascomycetes GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010256 biolink:NamedThing 4th arch mesenchyme from neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:5807 biolink:NamedThing Cryptosporidium parvum tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:2200817|NCBITaxon:2200819|NCBITaxon:2200825|NCBITaxon:2200822|NCBITaxon:2200823|NCBITaxon:2200815|NCBITaxon:2200824|NCBITaxon:2200818|NCBITaxon:2200821|NCBITaxon:2200826|NCBITaxon:2200820|NCBITaxon:2200816 ncbi_taxonomy owl:Class NCBITaxon:5806 biolink:NamedThing Cryptosporidium tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020523 biolink:NamedThing familial parathyroid adenoma An instance of parathyroid gland adenoma that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary parathyroid gland adenoma OMIM:145000|UMLS:C1840403|Orphanet:99877|ICD10:E21.0 owl:Class MONDO:0030331 biolink:NamedThing Ritscher-Schinzel syndrome 4 tmpaxzxjjyw_mondo_relaxed.owl Ritscher-Schinzel syndrome 4|RTSC4 OMIM:619435 owl:Class CHEBI:35190 biolink:NamedThing diterpene A C20 terpene. tmpaxzxjjyw_mondo_relaxed.owl diterpeno|diterpenes|Diterpen|diterpenos owl:Class MONDO:0015199 biolink:NamedThing aniridia - intellectual disability syndrome Aniridia-intellectual disability syndrome is an extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974. tmpaxzxjjyw_mondo_relaxed.owl Walker Dyson syndrome|aniridia associated with intellectual disability and other eye abnormalities|Walker-Dyson syndrome|aniridia associated with mental retardation and other eye abnormalities Orphanet:1068|UMLS:C2931243|MESH:C536568|GARD:0005530 owl:Class MONDO:0005190 biolink:NamedThing macroglobulinemia Macroglobulinemia is the presence of increased levels of macroglobulins in the circulating blood. It is a Plasma cell dyscrasia, resembling leukemia, with cells of lymphocytic, plasmacytic, or intermediate morphology, which secrete a monoclonal immunoglobulin M component. There is diffuse infiltration by the malignant cells of the bone marrow and also, in many cases, of the spleen, liver, or lymph nodes. The circulating macroglobulin can produce symptoms of hyperviscosity syndrome: weakness, fatigue, bleeding disorders, and visual disturbances. Peak incidence of macroglobulinemia is in the sixth and seventh decades of life. tmpaxzxjjyw_mondo_relaxed.owl primary macroglobulinemia SCTID:190817009|ICD10:C88.0|Wikipedia:Macroglobulinemia|EFO:0002616|DOID:9080|ICD9:273.3 owl:Class MONDO:0100432 biolink:NamedThing FNIP1-associated syndrome Any immunodeficiency in which the cause of the disease is a mutation in the FNIP1 gene. Disruption of Folliculin Interacting Protein 1 alters the essential metabolic regulators AMPK and mTOR, resulting in profound B-cell deficiency, hypertrophic cardiomyopathy, and pre-excitation syndrome. tmpaxzxjjyw_mondo_relaxed.owl FNIP1 deficiency|absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy syndrome|immunodeficiency with cardiomyopathy and pre-excitation syndrome http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4021 owl:Class MONDO:0015846 biolink:NamedThing syndromic uterovaginal malformation A uterovaginal malformation that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with uterovaginal malformation|syndromic uterovaginal malformation Orphanet:180148|UMLS:CN226751 owl:Class HP:0000549 biolink:NamedThing Abnormal conjugate eye movement Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. tmpaxzxjjyw_mondo_relaxed.owl Disconjugate eye movements UMLS:C1845274 human_phenotype owl:Class HP:0000496 biolink:NamedThing Abnormality of eye movement An abnormality in voluntary or involuntary eye movements or their control. tmpaxzxjjyw_mondo_relaxed.owl Eye movement abnormalities|Oculomotor abnormalities|Abnormal extraocular movements|Ocular movement abnormalities|Abnormal eye movements|Abnormal ocular movements|Eye movement issue|Abnormal extraocular movement|Abnormal movement of the globe of the eye|Abnormal eye movement|Abnormal eye motility|Abnormality of eye movement|Abnormal motility of the globe of the eye SNOMEDCT_US:103252009|UMLS:C0497202 HP:0006860 human_phenotype owl:Class UBERON:0003556 biolink:NamedThing forebrain arachnoid mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2732397 biolink:NamedThing Pararnavirae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001150 biolink:NamedThing hydrocephalus A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain. tmpaxzxjjyw_mondo_relaxed.owl hydrocephalus, nonsyndromic, autosomal recessive|hydrocephalus, X-linked OMIM:615219|Orphanet:2185|OMIM:307000|NCIT:C3111|ICD10:G91|ICD10:G91.9|Orphanet:2182|OMIM:236635|MESH:D006849|OMIM:236600|OMIM:123155|DOID:10908|SCTID:230745008 owl:Class MONDO:0020412 biolink:NamedThing congenital patent ductus arteriosus aneurysm Congenital patent ductus arteriosus aneurysm is a rare, congenital, arterial duct anomaly characterized by a saccular dilatation of the ductus arteriosus. It is often asymptomatic or presents shortly after birth with respiratory distress, stridor, cyanosis and/or weak cry. Complications, such as rupture, thromboembolism, infection, airway erosion and/or compression of the adjacent thoracic structures, can develop. Spontaneous resolution has been reported. tmpaxzxjjyw_mondo_relaxed.owl SCTID:763316006|ICD10:Q25.8|Orphanet:99072 owl:Class MONDO:0014905 biolink:NamedThing encephalopathy due to defective mitochondrial and peroxisomal fission 2 tmpaxzxjjyw_mondo_relaxed.owl EMPF2|encephalopathy due to defective mitochondrial and peroxisomal fission 2|Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome|MFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect|encephalopathy due to defective mitochondrial and peroxisomal fission type 2 Orphanet:485421|UMLS:C4310726|OMIM:617086 owl:Class MONDO:0020435 biolink:NamedThing atrial septal defect, coronary sinus type tmpaxzxjjyw_mondo_relaxed.owl ASD coronary sinus|unroofed coronary sinus|atrial septal defect coronary sinus|ASD, coronary sinus type|coronary sinus atrial septal defects Orphanet:99104|ICD9:746.89|SCTID:40272001|ICD10:Q21.1|GARD:0010697 https://rarediseases.info.nih.gov/diseases/10697/atrial-septal-defect-coronary-sinus owl:Class NCBITaxon:63419 biolink:NamedThing Trichophyton concentricum tmpaxzxjjyw_mondo_relaxed.owl Oospora concentrica|Achorion concentricum|Mycoderma concentricum|Aspergillus concentricum|Lepidophyton concentricum|Endodermophyton concentricum GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004128 biolink:NamedThing lung occult large cell carcinoma A large cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. tmpaxzxjjyw_mondo_relaxed.owl occult large cell carcinoma of lung|occult large cell carcinoma of the lung|occult large cell lung carcinoma DOID:7169|UMLS:C1335095|NCIT:C6685 owl:Class MONDO:0021273 biolink:NamedThing leiomyoma of ciliary body A leiomyoma that involves the ciliary body. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of the ciliary body|ciliary body leiomyoma SCTID:255020006|NCIT:C4560|UMLS:C0346386|ICD9:224.0 owl:Class CL:0000568 biolink:NamedThing amine precursor uptake and decarboxylation cell A cell that originates in the neural crest, that has certain cytochemical and ultrastructural characteristics and is found scattered throughout the body; types include melanocytes, the cells of the chromaffin system, and cells in the hypothalamus, hypophysis, thyroid, parathyroids, lungs, gastrointestinal tract, and pancreas. This cell type concentrates the amino acid precursors of certain amines and decarboxylate them, forming amines that function as regulators and neurotransmitters. This cell type produces substances such as epinephrine, norepinephrine, dopamine, serotonin, enkephalin, somatostatin, neurotensin, and substance P, the actions of which may affect contiguous cells, nearby groups of cells, or distant cells, thus functioning as local or systemic hormones. The name is an acronym for amine precursor uptake and decarboxylation cell. tmpaxzxjjyw_mondo_relaxed.owl APUD cell FMA:83114|BTO:0003866 cell owl:Class GO:0099601 biolink:NamedThing regulation of neurotransmitter receptor activity Any process that modulates the frequency, rate or extent of neurotransmitter receptor activity. Modulation may be via an effect on ligand affinity, or effector funtion such as ion selectivity or pore opening/closing in ionotropic receptors. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7981 biolink:NamedThing NR4A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003859 biolink:NamedThing bilateral meningioma of optic nerve Meningiomas that affects both optic nerves. tmpaxzxjjyw_mondo_relaxed.owl bilateral meningioma of the optic nerve|bilateral optic nerve meningioma DOID:6335|UMLS:C1332551|NCIT:C5304 owl:Class MONDO:0006144 biolink:NamedThing cervical Wilms tumor An embryonal neoplasm arising from the cervix with morphologic features resembling Wilms tumor of the kidney. tmpaxzxjjyw_mondo_relaxed.owl cervical Wilms tumor|cervical Wilms' tumor NCIT:C40236|UMLS:C1516437|DOID:5190|EFO:1000173 MONDO:0003323 owl:Class MONDO:0010909 biolink:NamedThing UV-sensitive syndrome 1 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene. tmpaxzxjjyw_mondo_relaxed.owl UV-sensitive syndrome type 1|UV-sensitive syndrome caused by mutation in ERCC6|UV-sensitive syndrome 1|UVSS1|ERCC6 UV-sensitive syndrome UMLS:C3551173|OMIM:600630|Orphanet:178338 owl:Class UBERON:0016536 biolink:NamedThing white matter of limbic lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018146 biolink:NamedThing idiopathic macular telangiectasia type 1 Idiopathic macular telangiectasia type 1 is a rare, acquired, eye disease characterized by unilateral (rarely bilateral) abnormally dilated and tortuous capillaries around the fovea, associated with multiple arteriolar and venular aneurysms, lipid depositions, and intra-retinal cystoid degeneration. It leads to vision loss due to macular edema with hard exudates. tmpaxzxjjyw_mondo_relaxed.owl aneurysmal telangiectasia|visible and exudative idiopathic juxtafoveolar retinal telangiectasis Orphanet:353344|ICD10:H35.5|UMLS:CN204544 owl:Class MONDO:0015853 biolink:NamedThing deficient breast volume or number tmpaxzxjjyw_mondo_relaxed.owl Orphanet:180173 owl:Class MONDO:0016542 biolink:NamedThing immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome is a rare immune dysregulation disease with immunodeficiency characterized by severe, progressive infantile onset inflammatory bowel disease with pancolitis, perianal disease (ulceration, fistulae), recurrent respiratory, genitourinary and cutaneous infections, arthritis and a high risk of B-cell lymphoma. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive early-onset inflammatory bowel disease|IL10-related early-onset inflammatory bowel disease|autosomal recessive early-onset IBD|IL10-related early-onset IBD OMIM:615767|OMIM:612567|OMIM:613148|Orphanet:238569|UMLS:CN201623|ICD10:K52.8|GARD:0013016 owl:Class MONDO:0044208 biolink:NamedThing specific granule deficiency 2 Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480). tmpaxzxjjyw_mondo_relaxed.owl specific granule deficiency 2|SGD2 OMIM:617475|Orphanet:169142|UMLS:C4479548 owl:Class HGNC:1059 biolink:NamedThing BLMH tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:12066 biolink:NamedThing Coxsackievirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:90010 biolink:NamedThing unclassified Enterovirus tmpaxzxjjyw_mondo_relaxed.owl unclassified Enteroviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014630 biolink:NamedThing NTHL1-related attenuated familial adenomatous polyposis tmpaxzxjjyw_mondo_relaxed.owl FAP3|NTHL1-related attenuated familial adenomatous polyposis|NTHL1-related AFAP|NTHL1-related attenuated FAP|familial adenomatous polyposis type 3|familial adenomatous polyposis 3 Orphanet:454840|ICD10:D12.6|UMLS:C4225157|OMIM:616415 owl:Class GO:0050668 biolink:NamedThing positive regulation of homocysteine metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving homocysteine. tmpaxzxjjyw_mondo_relaxed.owl upregulation of homocysteine metabolic process|activation of homocysteine metabolic process|positive regulation of Hcy metabolism|positive regulation of Hcy metabolic process|up regulation of homocysteine metabolic process|positive regulation of homocysteine metabolism|up-regulation of homocysteine metabolic process|stimulation of homocysteine metabolic process owl:Class MONDO:0014946 biolink:NamedThing Sifrim-Hitz-Weiss syndrome tmpaxzxjjyw_mondo_relaxed.owl SIHIWES|Sifrim-Hitz-Weiss syndrome|Sifrim-Hitz-Weiss multiple congenital anomalies-mental retardation syndrome|Sifrim-Hitz-Weiss multiple congenital anomalies-intellectual disability syndrome|Sifrim-Hitz-Weiss syndrome; SIHIWES OMIM:617159|UMLS:C4310688 owl:Class MONDO:0001535 biolink:NamedThing vagus nerve disorder A disease involving the vagus nerve. tmpaxzxjjyw_mondo_relaxed.owl disorder of vagal nerve|vagus nerve disease|disorder of pneumogastric [10th] nerve|vagus nerve disease or disorder|Vagus nerve disorder|disease of vagus nerve|disease or disorder of vagus nerve|disorder of vagus nerve MESH:D020421|UMLS:C0152179|ICD9:352.3|SCTID:73765005|DOID:12491|ICD10:G52.2|NCIT:C27591 owl:Class MONDO:0100059 biolink:NamedThing hypereosinophilia of undetermined significance Long-lasting, unexplained and asymptomatic blood hypereosinophilia. tmpaxzxjjyw_mondo_relaxed.owl benign eosinophilia|HEUS 2018-09-12 23:02:52+00:00 owl:Class MONDO:0001580 biolink:NamedThing lacrimal duct cancer A primary or metastatic malignant neoplasm affecting the lacrimal duct. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of lacrimal duct|malignant neoplasm of the lacrimal duct|malignant tumor of the lacrimal duct|lacrimal drainage system cancer|malignant lacrimal drainage system neoplasm|malignant lacrimal duct tumor|malignant neoplasm of lacrimal duct|malignant lacrimal duct neoplasm|cancer of lacrimal drainage system|malignant neoplasm of lacrimal drainage system NCIT:C3567|SCTID:188274004|UMLS:C0153631|DOID:12756|ICD9:190.7 owl:Class NCBITaxon:56212 biolink:NamedThing Calomys musculinus tmpaxzxjjyw_mondo_relaxed.owl drylands vesper mouse GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004353 biolink:NamedThing extrahepatic biliary papillomatosis A non-invasive, papillary epithelial neoplasm that arises from the epithelium of the extrahepatic bile ducts. tmpaxzxjjyw_mondo_relaxed.owl extrahepatic bile duct papillomatosis|extrahepatic bile duct papillary neoplasm|extrahepatic biliary papillomatosis UMLS:C1333511|NCIT:C7124|DOID:7752 owl:Class MONDO:0013789 biolink:NamedThing DDOST-CDG DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1). tmpaxzxjjyw_mondo_relaxed.owl DDOST-CDG|congenital disorder of glycosylation type 1r|carbohydrate deficient glycoprotein syndrome type|congenital disorder of glycosylation type Ir|CDG syndrome type Ir|congenital disorder of glycosylation, type Ir|CDG-Ir|DDOST-CDG (CDG-Ir)|carbohydrate deficient glycoprotein syndrome type Ir|CDG1R DOID:0080569|Orphanet:300536|ICD10:E77.8|SCTID:733083006|OMIM:614507|UMLS:C3281084|GARD:0012398 owl:Class GO:0002274 biolink:NamedThing myeloid leukocyte activation A change in the morphology or behavior of a myeloid leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand. tmpaxzxjjyw_mondo_relaxed.owl myeloid leucocyte activation owl:Class UBERON:0003845 biolink:NamedThing lower eyelid epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14963 biolink:NamedThing GPR101 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070094 biolink:NamedThing positive regulation of glucagon secretion Any process that activates or increases the frequency, rate or extent of the regulated release of glucagon. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of glucagon secretion|up regulation of glucagon secretion|upregulation of glucagon secretion|stimulation of glucagon secretion|activation of glucagon secretion owl:Class PATO:0001739 biolink:NamedThing radiation quality A quality that inheres in an bearer by virtue of how that bearer interacts with radiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0100497 biolink:NamedThing Vitamin B3 deficiency tmpaxzxjjyw_mondo_relaxed.owl Vitamin B3 deficiency SNOMEDCT_US:418186002|MSH:D010383|UMLS:C0030783|SNOMEDCT_US:418279001 doelkens 2010-12-17T04:14:51Z human_phenotype owl:Class GO:0060048 biolink:NamedThing cardiac muscle contraction Muscle contraction of cardiac muscle tissue. tmpaxzxjjyw_mondo_relaxed.owl heart muscle contraction owl:Class MONDO:0002988 biolink:NamedThing cervix melanoma An aggressive malignant tumor of melanocytic origin that arises from the cervix. tmpaxzxjjyw_mondo_relaxed.owl primary malignant melanoma of the cervix uteri|primary malignant melanoma of the uterine cervix|melanoma of the cervix|cervical melanoma GARD:0009664|DOID:4413|UMLS:C0877611|NCIT:C40239 owl:Class MONDO:0005446 biolink:NamedThing cutaneous leishmaniasis Leishmaniasis affecting the skin. It is the most common form of leishmaniasis. It presents with erythematous macules and papules, and nodules which may eventually ulcerate. The lesions appear in the bite site in the exposed skin areas. tmpaxzxjjyw_mondo_relaxed.owl zone of skin leishmaniasis|leproid leishmaniasis|Asian desert cutaneous leishmaniasis ICD10:B55.1|DOID:9111|UMLS:C0023283|ICD9:085.2|EFO:0005046|SCTID:186807008|NCIT:C34770|MESH:D016773 owl:Class MONDO:0019172 biolink:NamedThing aniridia Aniridia is a congenital ocular malformation characterized by the complete or partial absence of the iris. It can be isolated or part of a syndrome (isolated and syndromic aniridia). tmpaxzxjjyw_mondo_relaxed.owl aplasia of iris SCTID:69278003|ICD10:Q13.1|MedDRA:10002532|Orphanet:77|DOID:12271|OMIM:106210|ICD9:743.45|MESH:D015783|NCIT:C84563|UMLS:C0003076|GARD:0005816 https://rarediseases.info.nih.gov/diseases/5816/aniridia owl:Class GO:1902224 biolink:NamedThing ketone body metabolic process The chemical reactions and pathways involving ketone body. tmpaxzxjjyw_mondo_relaxed.owl ketone body metabolism owl:Class UBERON:0003587 biolink:NamedThing limb connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011692 biolink:NamedThing basal ganglia calcification, idiopathic, 2 tmpaxzxjjyw_mondo_relaxed.owl basal ganglia calcification, idiopathic, 2|IBGC2 2022-04-01 UMLS:C1847731|Orphanet:1980|MESH:C537657|OMIM:606656 Reason: duplicate. This will be merged with MONDO:0024538 owl:Class CHEBI:33675 biolink:NamedThing p-block molecular entity A main group molecular entity that contains one or more atoms of a p-block element. tmpaxzxjjyw_mondo_relaxed.owl p-block compounds|p-block molecular entitiy|p-block molecular entities owl:Class MONDO:0019513 biolink:NamedThing esophageal malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:88993 owl:Class UBERON:0018251 biolink:NamedThing meningeal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050708 biolink:NamedThing regulation of protein secretion Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018323 biolink:NamedThing HSD10 disease, neonatal type HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by onset of severe metabolic/lactic acidosis, neurological and psychomotor delay, seizures and severe progressive hypertrophic cardiomyopathy in the neonatal period. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life. tmpaxzxjjyw_mondo_relaxed.owl HSD10 deficiency, neonatal type|2-methyl-3-hydroxybutyric aciduria, neonatal type|MHBD deficiency, neonatal type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type OMIM:300438|UMLS:CN204975|Orphanet:391457|ICD10:E72.8 owl:Class MONDO:0024988 biolink:NamedThing sex cord-stromal benign neoplasm A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. tmpaxzxjjyw_mondo_relaxed.owl DOID:0080368 owl:Class CHEBI:49475 biolink:NamedThing argon atom tmpaxzxjjyw_mondo_relaxed.owl Ar|argon|18Ar owl:Class GO:0051608 biolink:NamedThing histamine transport The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012876 biolink:NamedThing heparin cofactor 2 deficiency tmpaxzxjjyw_mondo_relaxed.owl Hcf 2 deficiency|heparin cofactor II deficiency|thrombophilia due to heparin cofactor 2 deficiency|heparin cofactor 2 deficiency|Hcf2 deficiency MESH:C562865|UMLS:C0398626|SCTID:234468009|ICD9:286.3|OMIM:612356 owl:Class NCBITaxon:4447 biolink:NamedThing Liliopsida tmpaxzxjjyw_mondo_relaxed.owl Monocotyledoneae|monocots|monocotyledons GC_ID:1|PMID:25249442 ncbi_taxonomy owl:Class MONDO:0002813 biolink:NamedThing lipomatous cancer A malignant mesenchymal neoplasm arising from adipocytes. tmpaxzxjjyw_mondo_relaxed.owl malignant lipomatous neoplasm|malignant tumor of the adipose tissue|adipose tissue cancer|malignant neoplasm of the adipose tissue|malignant adipose tissue neoplasm|malignant tumor of adipose tissue|malignant adipose tissue tumor|malignant neoplasm of adipose tissue|malignant lipomatous tumor|cancer of adipose tissue ICD9:171.9|SCTID:254828009|DOID:3939|UMLS:C0346117|NCIT:C4501 owl:Class MONDO:0010634 biolink:NamedThing jaundice, familial obstructive, of infancy tmpaxzxjjyw_mondo_relaxed.owl jaundice, familial obstructive, of infancy MESH:C564118|OMIM:308600|UMLS:C1839927 owl:Class HGNC:30225 biolink:NamedThing SLC52A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024665 biolink:NamedThing indeterminate sex and/or pseudohermaphroditism tmpaxzxjjyw_mondo_relaxed.owl gynandrism SCTID:268229003|ICD10:Q56|ICD9:752.7 owl:Class HGNC:12801 biolink:NamedThing XBP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014454 biolink:NamedThing visceral abdominal adipose tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003530 biolink:NamedThing aggressive digital papillary adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl ONCOTREE:ADPA|DOID:5590 owl:Class MONDO:0044789 biolink:NamedThing digital papillary eccrine carcinoma An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs. tmpaxzxjjyw_mondo_relaxed.owl papillary eccrine carcinoma of digit|papillary digital eccrine carcinoma|digital papillary eccrine carcinoma|digit papillary eccrine carcinoma|digital papillary carcinoma|digital papillary carcinoma of skin NCIT:C27534 owl:Class MONDO:0005792 biolink:NamedThing herpes simplex virus gingivostomatitis Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents. tmpaxzxjjyw_mondo_relaxed.owl herpetic Gingivostomatitides|herpetic Gingivostomatitis|herpetic Stomatitides|oral Herpes simplex|Stomatitides, herpetic|Simplexvirus stomatitis|Simplexvirus caused stomatitis|simplex, oral Herpes|Gingivostomatitides, herpetic|Gingivostomatitis, herpetic|herpetic stomatitis|Herpes simplex, oral SCTID:57920007|EFO:0007307|MESH:D013283 owl:Class MONDO:0015453 biolink:NamedThing Cogan syndrome Cogan syndrome (CS) is a rare autoimmune disorder of unknown origin characterized by inflammatory ocular disease (mainly interstitial keratitis) and vestibulo-auditory manifestations (mainly acute onset hearing loss, tinnitus and vertigo), in the setting of a negative work-up for syphilis, with a variable risk of developing into a systemic disease. Systemic manifestations may occur in more than 70% of cases. tmpaxzxjjyw_mondo_relaxed.owl Cogan's syndrome|Cogan syndrome|diffuse interstitual keratitis SCTID:405810005|MESH:D055952|ICD10:H16.32|UMLS:CN199560|MedDRA:10056667|ICD10:H16.3|DOID:0060216|Orphanet:1467|GARD:0001421 owl:Class HGNC:2026 biolink:NamedThing CLCNKA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014413 biolink:NamedThing orofaciodigital syndrome type 14 Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated. tmpaxzxjjyw_mondo_relaxed.owl microcephaly-cerebral malformation-orofaciodigital syndrome|orofaciodigital syndrome 14|OFD14|C2CD3 orofaciodigital syndrome|oral-facial-digital syndrome type 14|orofaciodigital syndrome type 14|orofaciodigital syndrome XIV|orofaciodigital syndrome caused by mutation in C2CD3 Orphanet:434179|SCTID:763837007|UMLS:C4014780|ICD10:Q87.0|OMIM:615948 owl:Class MONDO:0020326 biolink:NamedThing lymphomatoid papulosis Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL) with which it shares overlapping clinical and histopathologic features. tmpaxzxjjyw_mondo_relaxed.owl LyP|LYP SCTID:31047003|MESH:D017731|ICD10:C86.6|EFO:1000341|ICDO:9718/1|MedDRA:10056670|ICD10:L41.2|ICD9:447.8|Orphanet:98842|NCIT:C3721|GARD:0006944|UMLS:C0206182|ONCOTREE:LYP https://rarediseases.info.nih.gov/diseases/6944/lymphomatoid-papulosis owl:Class HGNC:23215 biolink:NamedThing PIGO tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13406 biolink:NamedThing PCLO tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0034399 biolink:NamedThing nuclear periphery The portion of the nuclear lumen proximal to the inner nuclear membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0005387 biolink:NamedThing Combined immunodeficiency A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0494261 human_phenotype owl:Class MONDO:0015398 biolink:NamedThing hemifacial microsomia tmpaxzxjjyw_mondo_relaxed.owl first branchial arch syndrome|otomandibular syndrome|Laterofacial microsomia|otomandibular dysostosis GARD:0006582|ICD10:Q75.8|UMLS:CN199493|Orphanet:141136|SCTID:109393007 owl:Class MONDO:0018043 biolink:NamedThing Thomas syndrome Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Potter sequence-cleft lip/palate-cardiopathy syndrome GARD:0005175|SCTID:716740009|MESH:C536514|UMLS:C2931225|ICD10:Q87.8|Orphanet:3316 owl:Class MONDO:0019946 biolink:NamedThing ligneous conjunctivitis Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia. tmpaxzxjjyw_mondo_relaxed.owl conjunctivitis lignosa GARD:0006187|ICD9:372.39|MedDRA:10071570|SCTID:403435005|OMIM:217090|ICD10:H10.4|Orphanet:97231|UMLS:C1274789 owl:Class MONDO:0016049 biolink:NamedThing congenital myopathy, Paradas type Paradas type congenital myopathy is an early-onset form of dysferlinopathy presenting with postnatal hypotonia, weakness in the proximal lower limbs and neck flexor muscles at birth and delayed motor development. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G71.2|Orphanet:199329 owl:Class MONDO:0008799 biolink:NamedThing anophthalmia/microphthalmia-esophageal atresia syndrome Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula. tmpaxzxjjyw_mondo_relaxed.owl syndromic microphthalmia, type 3|microphthalmia, syndromic 3|Aeg syndrome|optic nerve hypoplasia and abnormalities of the central nervous system|MCOPS3|microphthalmia and esophageal atresia syndrome|anophthalmia-esophageal-genital syndrome|anophthalmia esophageal genital syndrome|anophthalmia clinical with associated anomalies|syndromic microphthalmia type 3|microphthalmia, syndromic type 3|anophthalmia/microphthalmia-esophageal atresia syndrome|SOX2-related eye disorders|anophthalmia, clinical, with associated anomalies|SOX2 anophthalmia syndrome|anophthalmia microphthalmia esophageal atresia OMIM:206900|GARD:0001443|Orphanet:77298|SCTID:698851003|ICD10:Q87.8|ICD9:758.5 owl:Class GO:1990497 biolink:NamedThing regulation of cytoplasmic translation in response to stress Modulation of the frequency, rate or extent of cytoplasmic translation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008350 biolink:NamedThing pulmonic stenosis and deafness tmpaxzxjjyw_mondo_relaxed.owl pulmonic stenosis and deafness OMIM:178651|UMLS:C1867406 owl:Class HGNC:4170 biolink:NamedThing GATA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17646 biolink:NamedThing NGLY1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007195 biolink:NamedThing bifid nose, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl bifid nose, autosomal dominant UMLS:C2751431|OMIM:109740|Orphanet:2695 owl:Class MONDO:0011336 biolink:NamedThing familial hemophagocytic lymphohistiocytosis 4 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene. tmpaxzxjjyw_mondo_relaxed.owl hemophagocytic lymphohistiocytosis, familial, 4|Hlh4|familial hemophagocytic lymphohistiocytosis type 4|HLH4|HPLH4|FHL4|familial hemophagocytic lymphohistiocytosis 4|genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11|STX11 genetic hemophagocytic lymphohistiocytosis|Hplh4|hemophagocytic lymphohistiocytosis, familial, type 4 MESH:C537252|DOID:0110924|Orphanet:540|OMIM:603552|GARD:0009929 https://rarediseases.info.nih.gov/diseases/9929/hemophagocytic-lymphohistiocytosis-familial-4 owl:Class MONDO:0043108 biolink:NamedThing infantile striato thalamic degeneration tmpaxzxjjyw_mondo_relaxed.owl Orphanet:1575|GARD:0003004 owl:Class NCBITaxon:160008 biolink:NamedThing Mesocestoides lineatus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:53467 biolink:NamedThing Mesocestoides tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0010930 biolink:NamedThing Abnormal blood monovalent inorganic cation concentration An abnormality of monovalent inorganic cation homeostasis. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of monovalent inorganic cation homeostasis UMLS:C4023645 peter 2011-01-06T10:38:38Z human_phenotype owl:Class MONDO:0015840 biolink:NamedThing complete septate uterus Complete septate uterus is a rare, non-syndromic uterovaginal malformation characterized by a uterus that has a longitudinal septum which elongates from the uterine fundus to the internal or external cervical os. Most often women are asymptomatic, however dysmenorrhoea, unilateral obstruction, and endometriosis could be observed. Unlike urinary tract abnormalities, which are very rarely associated, poor reproductive outcome is frequent. tmpaxzxjjyw_mondo_relaxed.owl total septate uterus Orphanet:180126|ICD10:Q51.2 owl:Class MONDO:0002941 biolink:NamedThing anal margin carcinoma A carcinoma that arises from epithelial cells of the perianal skin tmpaxzxjjyw_mondo_relaxed.owl anal margin cancer|carcinoma of anal margin|carcinoma of perianal skin|carcinoma of the anal margin|anal margin carcinoma|perianal skin carcinoma UMLS:C0349534|DOID:4284|SCTID:255084004|NCIT:C7472 owl:Class MONDO:0000133 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. tmpaxzxjjyw_mondo_relaxed.owl ICF syndrome|immunodeficiency-centromeric instability-facial anomalies syndrome|CIID|immunodeficiency-centromeric instability-facial anomalies OMIM:614069|Orphanet:2268|OMIM:616910|OMIM:616911|UMLS:CN201349|DOID:0090007|MESH:C537362|SCTID:234633000|ICD10:D84.8|OMIM:242860|OMIMPS:242860|GARD:0002945 owl:Class UBERON:0000326 biolink:NamedThing pancreatic juice tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018981 biolink:NamedThing benign idiopathic neonatal seizures A rare neonatal epilepsy syndrome characterized by seizures without specific underlying etiology, occurring during the first days of life in infants with an otherwise normal neurological state and no family history of neonatal convulsions. The most commonly partial and clonic seizures usually last for one to three minutes. Repeated seizures may lead to status epilepticus lasting up to 20 hours. Overall, remission rates are high and neurological outcome is favorable. tmpaxzxjjyw_mondo_relaxed.owl benign nonfamilial neonatal seizures|BINS UMLS:CN205419|ICD10:G40.4|Orphanet:64545 owl:Class MONDO:0008108 biolink:NamedThing oculocerebrocutaneous syndrome Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations. tmpaxzxjjyw_mondo_relaxed.owl Delleman Oorthuys syndrome|oculo-cerebro-cutaneous syndrome|Delleman syndrome|OCC syndrome|oculocerebrocutaneous syndrome|Delleman-Oorthuys syndrome|Leichtman-Wood-Rohn syndrome|orbital cyst with cerebral and focal dermal malformations|OCCS Orphanet:1647|ICD9:759.89|GARD:0000106|UMLS:C0796092|SCTID:403554008|MESH:C538088|ICD10:Q87.8|OMIM:164180 https://rarediseases.info.nih.gov/diseases/106/oculocerebrocutaneous-syndrome owl:Class MONDO:0008834 biolink:NamedThing asthma, nasal polyps, and aspirin intolerance tmpaxzxjjyw_mondo_relaxed.owl asthma and nasal polyps|asthma, aspirin-induced, susceptibility to|asthma, nasal polyps, and aspirin intolerance|Asa triad UMLS:C1859648|DOID:0111579|OMIM:208550 owl:Class MONDO:0011299 biolink:NamedThing Huntington disease-like 1 Any neurodegenerative disease with chorea in which the cause of the disease is a mutation in the PRNP gene. tmpaxzxjjyw_mondo_relaxed.owl Huntington disease-like type 1|Huntington disease-like 1|neurodegenerative disease with chorea caused by mutation in PRNP|Huntington-like neurodegenerative disorder 1|HLN1|Huntington's disease-like 1|HDL1|Huntington-like neurodegenerative disorder, autosomal dominant|PRNP neurodegenerative disease with chorea|autosomal dominant Huntington-like neurodegenerative disorder|early-onset prion disease with prominent psychiatric features|prion disease, early-onset, with prominent psychiatric features OMIM:603218|UMLS:C1864112|Orphanet:157941|DOID:0090103|ICD10:G10|MESH:C566398 owl:Class MONDO:0042493 biolink:NamedThing gastric non-hodgkin lymphoma An extranodal non-Hodgkin lymphoma that arises from the stomach with the bulk of the mass located in the stomach. The vast majority of cases are diffuse large B-cell lymphomas and B-cell lymphomas of the mucosa-associated lymphoid tissue. tmpaxzxjjyw_mondo_relaxed.owl stomach non-Hodgkin lymphoma|lymphoma, gastric non Hodgkins type|gastric non-Hodgkin lymphoma|non-Hodgkin's lymphoma of stomach|stomach lymphoma, non-Hodgkins type|gastric non-Hodgkin's lymphoma|non-Hodgkins gastric lymphoma|non-Hodgkin lymphoma of stomach|primary gastric non-Hodgkin's lymphoma|non-Hodgkin's lymphoma of the stomach SCTID:448709005|GARD:0000089|NCIT:C27235|UMLS:C1333784 owl:Class MONDO:0016595 biolink:NamedThing inhalational anthrax A rare acute systemic infection caused by the inhalation of Bacillus anthracis spores (e.g. through infected animal products, bioterrorism) and characterized by an initial stage where patients present with non specific symptoms (fever, cough, chills, fatigue) that is followed by an acute phase during which hemorrhagic mediastinitis occurs that can progress into meningitis, gastrointestinal involvement, and refractory shock, that can be fatal, if left untreated. tmpaxzxjjyw_mondo_relaxed.owl wool-sorters' disease|inhalation anthrax|pulmonary anthrax|woolsorters' disease|inhalation anthrax disease|respiratory anthrax|respiratory anthrax disease ICD9:022.1|UMLS:C0155866|DOID:0050160|ICD10:A22.1|SCTID:11389007|MedDRA:10035667|MESH:C571912|Orphanet:247257 owl:Class GO:0072329 biolink:NamedThing monocarboxylic acid catabolic process The chemical reactions and pathways resulting in the breakdown of monocarboxylic acids, any organic acid containing one carboxyl (-COOH) group. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021439 biolink:NamedThing benign neoplasm of pituitary gland A benign neoplasm that involves the pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl benign pituitary gland tumor|benign neoplasm of the pituitary|benign tumor of the pituitary gland|benign pituitary tumor|pituitary gland benign neoplasm|benign neoplasm of pituitary|benign neoplasm of the pituitary gland|benign tumor of the pituitary|benign pituitary gland neoplasm|benign pituitary neoplasm|benign tumor of pituitary|benign tumor of pituitary gland|pituitary neoplasms, benign|pituitary tumor, benign ICD10:D35.2|SCTID:92296004|NCIT:C4782|DOID:60009|UMLS:C0496901 owl:Class UBERON:0003481 biolink:NamedThing tail vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012365 biolink:NamedThing gallbladder disease 2 tmpaxzxjjyw_mondo_relaxed.owl GBD2|gallbladder disease 2 OMIM:609918|UMLS:C1835925|MESH:C563687 owl:Class MONDO:0011112 biolink:NamedThing Wilms tumor 5 Any Wilms tumor in which the cause of the disease is a mutation in the POU6F2 gene. tmpaxzxjjyw_mondo_relaxed.owl Wilms tumor and radial bilateral aplasia|WT5|Wilms tumor 5|Wilms tumor, susceptibility to|bilateral radial aplasia with Wilms tumor|Wilms tumor type 5 Orphanet:654|OMIM:601583|MESH:C536707|GARD:0005578 owl:Class MONDO:0003321 biolink:NamedThing hereditary Wilms tumor Familial embryonal neoplasm derived from nephrogenic blastemal cells. Several lines of differentiation, including blastemal, stromal and epithelial, are usually expressed. Comprises approximately 1% of Wilms tumors. (AFIP fascicle version 2.0) tmpaxzxjjyw_mondo_relaxed.owl familial Wilms tumor|hereditary Wilms tumor|familial Wilms' tumor|hereditary Wilms' tumor|hereditary nephroblastoma|hereditary renal adenosarcoma|WT1|hereditary kidney adenosarcoma OMIMPS:194070|UMLS:C0677779|DOID:5183|NCIT:C8496 owl:Class MONDO:0009024 biolink:NamedThing cortical blindness-intellectual disability-polydactyly syndrome This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly. tmpaxzxjjyw_mondo_relaxed.owl cortical blindness, retardation, and postaxial polydactyly Orphanet:1389|GARD:0001548|OMIM:218010|MESH:C565674|UMLS:C1857568 https://rarediseases.info.nih.gov/diseases/1548/cortical-blindness-intellectual-disability-polydactyly-syndrome owl:Class UBERON:0022351 biolink:NamedThing parietal serous membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002558 biolink:NamedThing organ cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904018 biolink:NamedThing positive regulation of vasculature development Any process that activates or increases the frequency, rate or extent of vasculature development. tmpaxzxjjyw_mondo_relaxed.owl up regulation of vasculature development|positive regulation of vascular system development|upregulation of vasculature development|activation of vasculature development|upregulation of vascular system development|up-regulation of vascular system development|up regulation of vascular system development|up-regulation of vasculature development|activation of vascular system development owl:Class HGNC:16499 biolink:NamedThing RAB39B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017573 biolink:NamedThing 46,XX disorder of sex development-anorectal anomalies syndrome 46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome characterized by a normal female karyotype, normal ovaries, male or ambiguous genitalia, urinary tract malformations (ranging from bilateral renal agenesis to mild unilateral hydronephrosis), müllerian duct anomalies (e.g. complete absence of the uterus and vagina, bicornuate uterus), and imperforate anus. Additional features may include tracheoesophageal fistula, radial aplasia, and malrotation of the gut. tmpaxzxjjyw_mondo_relaxed.owl female pseudohermaphroditism-anorectal anomalies syndrome Orphanet:2973|UMLS:CN203326|ICD10:Q56.2 owl:Class NCBITaxon:3745 biolink:NamedThing Rosaceae tmpaxzxjjyw_mondo_relaxed.owl Malaceae|rose family GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:3744 biolink:NamedThing Rosales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:3601|NCBITaxon:3473|NCBITaxon:4266 ncbi_taxonomy owl:Class MONDO:0005120 biolink:NamedThing Drosophila C virus infection A virus infection induced by Drosophila C virus (DCV) which is a positive-sense RNA virus belonging to the Dicistroviridae family. This natural pathogen of the model organism Drosophila melanogaster is commonly used to investigate antiviral host-defense in flies, which involves both RNA interference and inducible responses. tmpaxzxjjyw_mondo_relaxed.owl Drosophila C virus caused disease or disorder|Drosophila C virus infectious disease|Drosophila C virus disease or disorder EFO:0000779|PMID:25253354 owl:Class MONDO:0006961 biolink:NamedThing scrapie A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called prions. tmpaxzxjjyw_mondo_relaxed.owl MESH:D012608|UMLS:C0036457|EFO:1001168|DOID:5434 owl:Class GO:0090358 biolink:NamedThing positive regulation of tryptophan metabolic process Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of tryptophan metabolism owl:Class HP:0001394 biolink:NamedThing Cirrhosis A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. tmpaxzxjjyw_mondo_relaxed.owl Liver cirrhosis|Hepatic cirrhosis|Scar tissue replaces healthy tissue in the liver UMLS:C0023890|SNOMEDCT_US:19943007|MSH:D008103 Cirrhosis is caused by chronic liver disease as a result of viral infections (hepatitis), alcohol abuse, certain medications, certain metabolic disorders of iron and copper, and many others. Cirrhosis may lead to a number of abnormalities including hepatomegaly, jaundice, abnormal liver function tests, ascites, dilatation of veins in the abdominal wall, anemia, and clotting deficiencies. human_phenotype owl:Class MONDO:0008006 biolink:NamedThing Mobius syndrome Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies. tmpaxzxjjyw_mondo_relaxed.owl Moebius congenital oculofacial paralysis|Mobius syndrome|Moebius syndrome|absence or underdevelopment of the 6th and 7th cranial nerves|congenital facial diplegia syndrome|Moebius sequence|oromandibular-limb hypogenesis spectrum|MBS|congenital oculofacial paralysis|Möbius syndrome|congenital facial diplegia MESH:D020331|UMLS:C0853240|ICD9:759.89|EFO:1001046|Orphanet:570|SCTID:89444000|GARD:0008549|MedDRA:10027789|NCIT:C84893|ICD10:Q87.0|UMLS:C0221060|DOID:13501|OMIM:157900|MedDRA:10030069 owl:Class MONDO:0019757 biolink:NamedThing alobar holoprosencephaly Alobar holoprosencephaly is the most severe classical form of holoprosencephaly (HPE) characterized by a single brain ventricle and no interhemispheric fissure. tmpaxzxjjyw_mondo_relaxed.owl SCTID:253137003|ICD10:Q04.2|Orphanet:93925|OMIM:157170|OMIM:610829|OMIM:609637 owl:Class NCBITaxon:694013 biolink:NamedThing Gammacoronavirus tmpaxzxjjyw_mondo_relaxed.owl Coronavirus|Coronavirus group 3|Group 3 species GC_ID:1 NCBITaxon:156440 ncbi_taxonomy owl:Class MONDO:0011701 biolink:NamedThing inflammatory bowel disease 4 An inflammatory bowel disease that has material basis in variation in the chromosome region 14q11-q12. tmpaxzxjjyw_mondo_relaxed.owl inflammatory bowel disease type 4|IBD4|inflammatory bowel disease 4 MESH:C564680|DOID:0110903|UMLS:C1847691|OMIM:606675 owl:Class HGNC:17416 biolink:NamedThing ADGRV1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016446 biolink:NamedThing acquired cutis laxa An instance of cutis laxa that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl cutis laxa acquisita|acquired cutis laxa Orphanet:228285|SCTID:19726003|UMLS:C0406549 owl:Class MONDO:0007183 biolink:NamedThing azotemia, familial tmpaxzxjjyw_mondo_relaxed.owl azotemia, familial UMLS:C1862358|MESH:C566233|OMIM:109160 owl:Class MONDO:0012401 biolink:NamedThing congenital stromal corneal dystrophy Congenital stromal corneal dystrophy (CSCD) is an extremely rare form of stromal corneal dystrophy characterized by opaque flaky or feathery clouding of the corneal stroma, and moderate to severe visual loss. tmpaxzxjjyw_mondo_relaxed.owl CSCD|corneal dystrophy, congenital stromal|congenital hereditary stromal dystrophy|Witschel dystrophy|congenital stromal corneal dystrophy SCTID:702359002|MESH:C566452|DOID:0060445|UMLS:C1864738|ICD10:H18.5|OMIM:610048|ICD9:371.56|Orphanet:101068 owl:Class GO:0005840 biolink:NamedThing ribosome An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. tmpaxzxjjyw_mondo_relaxed.owl membrane bound ribosome|free ribosome|ribosomal RNA owl:Class MONDO:0004909 biolink:NamedThing urethral gland abscess tmpaxzxjjyw_mondo_relaxed.owl DOID:9877|SCTID:444820005|ICD10:N34.0|ICD9:597.0 owl:Class CHEBI:38313 biolink:NamedThing diazines Any organic heterocyclic compound containing a benzene ring in which two of the C-H fragments have been replaced by isolobal nitrogens (the diazine parent structure). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008205 biolink:NamedThing patella aplasia/hypoplasia Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date. tmpaxzxjjyw_mondo_relaxed.owl absent patella|PTLAH|familial absence of the patella|familial aplasia of the patella (subtype)|patella aplasia-hypoplasia GARD:0008709|OMIM:168860|MESH:C535568|Orphanet:86789|ICD10:Q74.1 owl:Class MONDO:0004170 biolink:NamedThing nodular episcleritis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155352|ICD10:H15.12|SCTID:70558001|ICD9:379.02|DOID:728 owl:Class HGNC:23508 biolink:NamedThing STOX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001055 biolink:NamedThing sea water fish food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012661 biolink:NamedThing susceptibility to visceral leishmaniasis, 3 tmpaxzxjjyw_mondo_relaxed.owl KAZA3|kala-AZAR, susceptibility to, 3|leishmaniasis, visceral, susceptibility to, 3 OMIM:611382 owl:Class MONDO:0003104 biolink:NamedThing epicardium cancer A malignant neoplasm involving the epicardium. tmpaxzxjjyw_mondo_relaxed.owl malignant epicardial neoplasm|malignant neoplasm of epicardium|malignant neoplasm of the epicardium|malignant tumor of epicardium|malignant tumor of the epicardium|malignant epicardial tumor|cancer of epicardium|epicardial tumor|epicardium cancer|malignant epicardium neoplasm SCTID:126733004|DOID:4699|NCIT:C4568|UMLS:C2607932|UMLS:C1290403|NCIT:C5347 owl:Class MONDO:0003729 biolink:NamedThing aleukemic leukemia cutis Infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. It results in clinically identifiable skin lesions. It may be the first manifestation of acute leukemia, preceding the involvement of the bone marrow and peripheral blood by the leukemic process. tmpaxzxjjyw_mondo_relaxed.owl leukemia subleukemic|aleukemic leukemia cutis GARD:0006892|DOID:6003|NCIT:C4983|UMLS:C0887846 owl:Class HGNC:31928 biolink:NamedThing NBEAL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000675 biolink:NamedThing pain agnosia Loss of the ability to perceive and process pain. tmpaxzxjjyw_mondo_relaxed.owl analgesia NCIT:C125664|DOID:0060145|EFO:1001484 owl:Class MONDO:0013230 biolink:NamedThing epilepsy, hot water, 2 tmpaxzxjjyw_mondo_relaxed.owl HWE2|epilepsy, hot water, 2 OMIM:613340|Orphanet:166412|UMLS:C3150536 owl:Class MONDO:0030835 biolink:NamedThing developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy tmpaxzxjjyw_mondo_relaxed.owl DIGFAN OMIM:619090 owl:Class CHEBI:33233 biolink:NamedThing fundamental particle A particle not known to have substructure. tmpaxzxjjyw_mondo_relaxed.owl elementary particle|elementary particles owl:Class UBERON:0036291 biolink:NamedThing myocardium of anterior wall of right ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004600 biolink:NamedThing monocytic leukemia tmpaxzxjjyw_mondo_relaxed.owl schilling's leukemia ICD9:206.90|ICD9:206.8|ICD9:206.80|ICD9:206.81|SCTID:188744006|DOID:8527|ICD10:C93.Z0|ICD10:C93.Z|ICD9:206.91 owl:Class MONDO:0016405 biolink:NamedThing sterol metabolism disorder with epilepsy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:225710|UMLS:CN226918 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: MONDO_0019256 MONDO_0019256 owl:Class MONDO:0017766 biolink:NamedThing disorder of manganese transport tmpaxzxjjyw_mondo_relaxed.owl ICD10:E83.8|UMLS:CN227208|Orphanet:309851 owl:Class GO:0060326 biolink:NamedThing cell chemotaxis The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009231 biolink:NamedThing fibular hypoplasia and complex brachydactyly tmpaxzxjjyw_mondo_relaxed.owl fibular hypoplasia and complex brachydactyly|fibular aplasia-complex brachydactyly syndrome|Du Pan syndrome Orphanet:2639|KEGG:H00467|OMIM:609441|ICD10:Q73.8|SCTID:715474004|DOID:0050790|MESH:C537931|OMIM:228900|GARD:0009879|UMLS:C1856738 https://rarediseases.info.nih.gov/diseases/9879/fibular-hypoplasia-and-complex-brachydactyly owl:Class MONDO:0100437 biolink:NamedThing RPGR-related retinopathy A retinopathy caused by a variant in the X-linked gene, RPGR. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 3|macular degeneration, X-linked atrophic|cone-rod dystrophy X-linked 1|cone dystrophy X-linked 1|cone-rod dystrophy, X-linked, 1|X-linked cone-rod dystrophy 1|retinitis pigmentosa caused by mutation in RPGR|X-linked cone dystrophy 1|retinitis pigmentosa 15|retinal ciliopathy due to mutation in the RPGR gene|retinitis pigmentosa 3|cone-rod dystrophy, X-linked, type 1|RP3|RPGR retinopathy|CORDX1|RPGR retinitis pigmentosa|COD1|cone-rod degeneration, X-linked|X-linked cone-rod dystrophy type 1|choroidoretinal degeneration with retinal reflex in heterozygous women|cone dystrophy 1, X-linked http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3898 owl:Class MONDO:0014742 biolink:NamedThing Parkinson disease 22, autosomal dominant Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene. tmpaxzxjjyw_mondo_relaxed.owl PARK22|Parkinson disease caused by mutation in CHCHD2|Parkinson disease 22, autosomal dominant; PARK22|CHCHD2 Parkinson disease|Parkinson disease 22, autosomal dominant OMIM:616710|DOID:0080504|UMLS:C4225238 owl:Class MONDO:0014839 biolink:NamedThing chorea, childhood-onset, with psychomotor retardation tmpaxzxjjyw_mondo_relaxed.owl COCPMR|chorea, childhood-onset, with psychomotor retardation; COCPMR|chorea, childhood-onset, with psychomotor retardation UMLS:C4310787|OMIM:616939 owl:Class MONDO:0044332 biolink:NamedThing childhood-onset benign chorea with striatal involvement tmpaxzxjjyw_mondo_relaxed.owl Orphanet:494541 owl:Class MONDO:0020837 biolink:NamedThing oocyte maturation defect 5 tmpaxzxjjyw_mondo_relaxed.owl OOMD5|oocyte maturation defect 5 OMIM:617996 owl:Class MONDO:0001617 biolink:NamedThing transient global amnesia A condition characterized by sudden, temporary, usually short-lived memory loss, not associated with a neurologic disorder. Affected individuals lose memory function for recent events and have a decreased ability to retain new information. It is usually a solitary event. tmpaxzxjjyw_mondo_relaxed.owl transient global amnesia (disease)|transient global amnesia transient global amnesia (disease) ICD10:G45.4|GARD:0008172|NCIT:C85198|DOID:13027|ICD9:437.7|HP:0010534|MESH:D020236 owl:Class HGNC:395 biolink:NamedThing ALAD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023510 biolink:NamedThing Jaffer-Beighton syndrome tmpaxzxjjyw_mondo_relaxed.owl Jaffer Beighton syndrome|arachnodactyly, joint laxity, and spondylolisthesis MESH:C537561|GARD:0003040|UMLS:C2931533 https://rarediseases.info.nih.gov/diseases/3040/jaffer-beighton-syndrome owl:Class MONDO:0008475 biolink:NamedThing spondylolisthesis A condition in which there is forward displacement of a vertebral bone over the on below it. tmpaxzxjjyw_mondo_relaxed.owl spondylolisthesis (disease)|spondylolisthesis spondylolisthesis (disease) ICD10:M43.1|UMLS:C0038016|MESH:D013168|DOID:6682|SCTID:274152003|OMIM:184200|EFO:0007493|ICD10:M43.10|NCIT:C35033|HP:0003302 owl:Class MONDO:0042911 biolink:NamedThing Schwartz-Cohen-addad-Lambert syndrome tmpaxzxjjyw_mondo_relaxed.owl congenital melanocytosis with myelomeningocele and hydrocephalus|Schwartz Cohen-Addad Lambert syndrome UMLS:C2931036|GARD:0000253|MESH:C535835 owl:Class MONDO:0008130 biolink:NamedThing ophthalmoplegia-intellectual disability-lingua scrotalis syndrome tmpaxzxjjyw_mondo_relaxed.owl ophthalmoplegia, progressive, with scrotal tongue and mental deficiency|Levic-Stefanovic-Nikolic syndrome|Levic Stefanovic Nikolic syndrome|ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Orphanet:2743|MESH:C563498|OMIM:165150|UMLS:C1833835|GARD:0003236 https://rarediseases.info.nih.gov/diseases/3236/levic-stefanovic-nikolic-syndrome owl:Class MONDO:0023003 biolink:NamedThing double fingernail of fifth finger tmpaxzxjjyw_mondo_relaxed.owl GARD:0001906 Editor note: consider making a grouping class with MONDO:0007469 https://rarediseases.info.nih.gov/diseases/1906/double-fingernail-of-fifth-finger owl:Class MONDO:0008404 biolink:NamedThing scalp-ear-nipple syndrome Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl scalp-ear-nipple syndrome|hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples|scalp ear nipple syndrome|scalp-EAR-nipple syndrome|Finlay-Marks syndrome|Sen syndrome|SENS GARD:0000159|MESH:C536623|OMIM:181270|Orphanet:2036|SCTID:721888002|ICD10:Q87.8|DOID:0111550 owl:Class MONDO:0032824 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 21 tmpaxzxjjyw_mondo_relaxed.owl GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21|Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis|GPIBD21 OMIM:618590 owl:Class GO:0060606 biolink:NamedThing tube closure Creation of the central hole of a tube in an anatomical structure by sealing the edges of an epithelial fold. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022311 biolink:NamedThing cote katsantoni syndrome tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia osteosclerosis MESH:C536449|UMLS:C2931195|GARD:0001554 https://rarediseases.info.nih.gov/diseases/1554/cote-katsantoni-syndrome owl:Class MONDO:0005121 biolink:NamedThing Enterococcus faecalis infection A bacterial infection induced by Enterococcus faecalis which is the most prevalent species (along with Enterococcus faecium) cultured from humans, accounting for more than 90% of clinical isolates. Enterococci are part of the normal intestinal flora of humans and animals. They have been long recognized as important human pathogens. tmpaxzxjjyw_mondo_relaxed.owl Enterococcus faecalis infectious disease|Enterococcus faecalis disease or disorder|Enterococcus faecalis caused disease or disorder EFO:0000780 owl:Class MONDO:0011011 biolink:NamedThing skeletal dysplasia-epilepsy-short stature syndrome Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl Gurrieri-Sammito-Bellussi syndrome|GURRIERI syndrome|mental retardation, epilepsy, short stature and skeletal dysplasia|intellectual disability, epilepsy, short stature and skeletal dysplasia GARD:0000350|Orphanet:1858|SCTID:715428003|ICD10:Q87.5|OMIM:601187|MESH:C537625|UMLS:C0796046 owl:Class UBERON:0006531 biolink:NamedThing oculomotor muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:176838 biolink:NamedThing vitamin B2 Any member of a group of vitamers that belong to the chemical structural class called flavins that exhibit biological activity against vitamin B2 deficiency. Symptoms associated with vitamin B2 deficiency include glossitis, seborrhea, angular stomaitis, cheilosis and photophobia. The vitamers include riboflavin and its phosphate derivatives (and includes their salt, ionised and hydrate forms). tmpaxzxjjyw_mondo_relaxed.owl vitamin B-2|vitamin B2|vitamins B2 vitamer|vitamins B2 vitamers|vitamins B2 owl:Class MONDO:0018842 biolink:NamedThing primary effusion lymphoma Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8). tmpaxzxjjyw_mondo_relaxed.owl PEL|AIDS-related lymphoma|primary Effusion Lymphoma|body cavity-based lymphoma ICDO:9678/3|UMLS:C1292753|ONCOTREE:PEL|Orphanet:48686|ICD9:202.80|MedDRA:10065857|MESH:D054685|ICD10:C83.8|SCTID:713516007|GARD:0009247|EFO:1000491|NCIT:C6915 https://rarediseases.info.nih.gov/diseases/9247/primary-effusion-lymphoma owl:Class ENVO:02000108 biolink:NamedThing cotton dust tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:02000109 biolink:NamedThing dust from plant parts tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071840 biolink:NamedThing cellular component organization or biogenesis A process that results in the biosynthesis of constituent macromolecules, assembly, arrangement of constituent parts, or disassembly of a cellular component. tmpaxzxjjyw_mondo_relaxed.owl cellular component organization or biogenesis at cellular level|cellular component organisation or biogenesis|cellular component organisation or biogenesis at cellular level owl:Class MONDO:0012131 biolink:NamedThing metaphyseal undermodeling, spondylar dysplasia, and overgrowth tmpaxzxjjyw_mondo_relaxed.owl overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome|metaphyseal undermodeling, spondylar dysplasia, and overgrowth MESH:C537355|Orphanet:498485|OMIM:608811|GARD:0010066|UMLS:C1837316 https://rarediseases.info.nih.gov/diseases/10066/metaphyseal-undermodeling-spondylar-dysplasia-and-overgrowth owl:Class MONDO:0010658 biolink:NamedThing syndromic X-linked intellectual disability 12 X-linked intellectual disability, Wilson type is characterised by severe intellectual deficit with mutism, epilepsy, growth retardation and recurrent infections. It has been described in three males from three generations of one family. The causative gene has been localised to the 11p region of the X chromosome. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, syndromic 12|MRXS12|intellectual disability, X-linked, syndromic 12|X-linked intellectual disability, Wilson type|syndromic X-linked intellectual disability type 12 DOID:0060804|Orphanet:85290|SCTID:719009006|OMIM:309545|ICD10:Q87.8|UMLS:C1839792|MESH:C564106 owl:Class GO:1990580 biolink:NamedThing regulation of cytoplasmic translational termination Any process that modulates the frequency, rate or extent of cytoplasmic translational termination. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004495 biolink:NamedThing skeletal muscle tissue of diaphragm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009827 biolink:NamedThing pachyonychia congenita, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl pachyonychia congenita, autosomal recessive OMIM:260130|MESH:C538094|UMLS:C1850103 Editor note: we currently classify PC as AD owl:Class GO:0008527 biolink:NamedThing taste receptor activity Combining with soluble compounds to initiate a change in cell activity. These receptors are responsible for the sense of taste. tmpaxzxjjyw_mondo_relaxed.owl gustatory receptor owl:Class MONDO:0005555 biolink:NamedThing cycloplegia Cycloplegia is paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation. tmpaxzxjjyw_mondo_relaxed.owl ciliary muscle paresis|cycloplegia|visual accommodation paralysis|accommodative paresis|paresis of accommodation|cycloplegic paralysis of accommodation|paralysis of accommodation|loss of accommodation SCTID_2010_1_31:68158006|UMLS:C0235238|DOID:10033|SCTID_2010_1_31:255335004|ICD10:H52.52|EFO:0005758|ICD9:367.51|Wikipedia:Cycloplegia|SCTID:68158006|SCTID_2010_1_31:232141000 owl:Class CL:0002170 biolink:NamedThing keratinized cell of the oral mucosa A keratinized cell located in the hard palate or gingiva. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-08-26T02:51:30Z cell owl:Class CL:0002336 biolink:NamedThing buccal mucosa cell An endothelial cell that lines the oral cavitiy including the mucosa of the gums, the palate, the lip, and the cheek. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-09-20T02:52:54Z cell owl:Class MONDO:0017316 biolink:NamedThing short stature-deafness-neutrophil dysfunction-dysmorphism syndrome Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterised by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). tmpaxzxjjyw_mondo_relaxed.owl thong-Douglas-Ferrante syndrome|short stature deafness neutrophil dysfunction|thong Douglas Ferrante syndrome ICD10:Q87.1|Orphanet:2866|GARD:0004841|SCTID:716192009 owl:Class UBERON:0008420 biolink:NamedThing buccal epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03400685 biolink:NamedThing 022 tree nuts (tn) (ccpr) Tree nuts are the seeds of a variety of trees and shrubs which are characterized by a hard inedible shell enclosing an oily seed. The seed is protected from pesticides applied during the growing season by the shell and other parts of the fruit. The edible portion of the nut is consumed in succulent, dried or processed forms. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0685 http://langual.org owl:Class FOODON:03400652 biolink:NamedThing 04 nuts and seeds (ccpr) TYPE 04 - NUTS AND SEEDS Nuts and seeds are derived from a large variety of trees, shrubs and herbaceous plants, mostly cultivated. The mature seeds or nuts are used as human food, for the production of beverages or edible vegetable oils and for the production of seed meals and cakes for animal feed. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0652 http://langual.org owl:Class MONDO:0009917 biolink:NamedThing autosomal recessive pseudohypoaldosteronism type 1 Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs. tmpaxzxjjyw_mondo_relaxed.owl pseudohypoaldosteronism, type I, autosomal recessive|autosomal recessive pseudohypoaldosteronism type 1|generalized PHA1|pseudohypoaldosteronism type 1 autosomal recessive|PHA1B|PHA I, autosomal recessive|pseudohypoaldosteronism type 1, recessive|autosomal recessive PHA 1|generalized pseudohypoaldosteronism type 1 UMLS:C0268436|GARD:0004552|Orphanet:171876|ICD10:N25.8|Orphanet:756|DOID:0060854|MESH:D011546|OMIM:264350 https://rarediseases.info.nih.gov/diseases/4552/autosomal-recessive-pseudohypoaldosteronism-type-1 owl:Class MONDO:0009097 biolink:NamedThing persistent hyperplastic primary vitreous, autosomal recessive Autosomal recessive form of persistent hyperplastic primary vitreous. tmpaxzxjjyw_mondo_relaxed.owl retinal nonattachment and falciform detachment|PHPVAR|autosomal recessive persistent hyperplastic primary vitreous|retinal nonattachment, nonsyndromic congenital|persistent fetal vasculature|persistent hyperplastic primary vitreous, autosomal recessive UMLS:C1969783|Orphanet:300337|Orphanet:91495|OMIM:221900 owl:Class NCBITaxon:36855 biolink:NamedThing Brucella canis tmpaxzxjjyw_mondo_relaxed.owl Brucella melitensis bv. Canis|Brucella melitensis biovar Canis GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:234 biolink:NamedThing Brucella tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:8573514|PMID:28066370 ncbi_taxonomy owl:Class GO:2001022 biolink:NamedThing positive regulation of response to DNA damage stimulus Any process that activates or increases the frequency, rate or extent of response to DNA damage stimulus. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of response to genotoxic stress|positive regulation of cellular DNA damage response|positive regulation of cellular response to DNA damage stimulus|positive regulation of DNA damage response owl:Class MONDO:0024332 biolink:NamedThing perennial allergic rhinitis Allergic rhinitis caused by indoor allergens and lasting year round. tmpaxzxjjyw_mondo_relaxed.owl nonseasonal allergic rhinitis|non-seasonal allergic rhinitis|perennial allergic rhinitis SCTID:446096008|UMLS:C0035457|NCIT:C92189 owl:Class NCBITaxon:35500 biolink:NamedThing Pecora tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:21191 biolink:NamedThing DAOA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024500 biolink:NamedThing duodenal neuroendocrine neoplasm A neuroendocrine neoplasm that involves the duodenum. tmpaxzxjjyw_mondo_relaxed.owl duodenum neuroendocrine neoplasm|neuroendocrine neoplasm of duodenum|duodenum neuroendocrine tumor|duodenum neuroendocrine tumor, well differentiated, low or intermediate grade|duodenum NET owl:Class UBERON:0002006 biolink:NamedThing cortex of lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044921 biolink:NamedThing atypical lymphoproliferative disorder tmpaxzxjjyw_mondo_relaxed.owl atypical lymphoproliferative disorder|atypical lymphoid hyperplasia NCIT:C7764|SCTID:20991001|UMLS:C0272217 owl:Class NCBITaxon:9443 biolink:NamedThing Primates tmpaxzxjjyw_mondo_relaxed.owl primate|primates|Primata GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014051 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene. tmpaxzxjjyw_mondo_relaxed.owl fatal infantile encephalocardiomyopathy caused by mutation in COX15|CEMCOX2|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2|COX15 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 UMLS:C3554534|Orphanet:1561|DOID:0080358|OMIM:615119 owl:Class MONDO:0018421 biolink:NamedThing autosomal recessive spastic paraplegia type 69 tmpaxzxjjyw_mondo_relaxed.owl SPG69 UMLS:CN226128|ICD10:G11.4|Orphanet:401830 owl:Class UBERON:0003852 biolink:NamedThing rhombencephalon neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017022 biolink:NamedThing secondary interstitial lung disease specific to childhood associated with a systemic vasculitis tmpaxzxjjyw_mondo_relaxed.owl secondary ILD specific to childhood associated with a systemic vasculitis 2022-03-01 UMLS:CN202335|Orphanet:264709 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class CL:1001430 biolink:NamedThing urethra urothelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001124 cell owl:Class MONDO:0011571 biolink:NamedThing deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 tmpaxzxjjyw_mondo_relaxed.owl Dfna39/dentinogenesis imperfecta 1 syndrome|Dgi1/Dfna39 syndrome|Dfna39/Dgi1 syndrome|deafness, autosomal dominant 39, with dentinogenesis imperfecta 1|deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1 UMLS:C1854146|Orphanet:166260|MESH:C565316|OMIM:605594 owl:Class MONDO:0007441 biolink:NamedThing dentinogenesis imperfecta type 2 Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth. tmpaxzxjjyw_mondo_relaxed.owl DGI-2|dentinogenesis imperfecta type 1|Capdepont teeth|dentinogenesis imperfecta, Shields type 2|opalescent dentin|dentinogenesis imperfecta without osteogenesis imperfecta|DGI1|DGI-II|DI-2|opalescent teeth without osteogenesis imperfecta|dentinogenesis imperfecta 1 OMIM:125490|OMIM:605594|GARD:0012796|Orphanet:166260|ICD10:K00.5 owl:Class CHEBI:51143 biolink:NamedThing nitrogen molecular entity tmpaxzxjjyw_mondo_relaxed.owl nitrogen molecular entities|nitrogen compounds|Nitrogenous compounds owl:Class MONDO:0032790 biolink:NamedThing neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES|NEDCFSA OMIM:618505 owl:Class MONDO:0010829 biolink:NamedThing CARASIL syndrome CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia. tmpaxzxjjyw_mondo_relaxed.owl subcortical vascular encephalopathy, progressive|Maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy|CARASIL|cerebrovascular disease with thin skin, alopecia, and disc disease|cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy MESH:C563990|GARD:0010424|UMLS:C1838577|ICD10:F01.1|SCTID:703219008|Orphanet:199354|DOID:13945|OMIM:600142 owl:Class MONDO:0018831 biolink:NamedThing HTRA1-related cerebral small vessel disease tmpaxzxjjyw_mondo_relaxed.owl HTRA1-related cerebral angiopathy Orphanet:482072|UMLS:CN776824 owl:Class GO:0019747 biolink:NamedThing regulation of isoprenoid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving isoprenoids. tmpaxzxjjyw_mondo_relaxed.owl regulation of isoprenoid metabolism owl:Class UBERON:0015022 biolink:NamedThing hindlimb endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001061 biolink:NamedThing pylorus cancer A malignant neoplasm involving the pylorus. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of pylorus of stomach|malignant tumor of pylorus|malignant neoplasm of pylorus|malignant neoplasm of Prepylorus|malignant pylorus neoplasm|Ca pylorus - stomach|pylorus cancer|cancer of pylorus DOID:10544|SCTID:187736009|ICD10:C16.4|ICD9:151.1|UMLS:C0153418 owl:Class MONDO:0011854 biolink:NamedThing secretory diarrhea, myopathy, and deafness tmpaxzxjjyw_mondo_relaxed.owl secretory diarrhea, myopathy, and deafness MESH:C564382|OMIM:607540|UMLS:C1843757 owl:Class HP:0033796 biolink:NamedThing Abnormal leukocyte physiology A functional abnormality of a white blood cell. tmpaxzxjjyw_mondo_relaxed.owl 2021-05-08 13:50:44+00:00 peter human_phenotype owl:Class MONDO:0003253 biolink:NamedThing vulvar granular cell tumor A usually benign granular cell tumor that arises from the vulva. tmpaxzxjjyw_mondo_relaxed.owl granular cell tumor of mammalian vulva|mammalian vulva granular cell tumor|vulvar granular cell tumor DOID:5043|NCIT:C40328|UMLS:C1520083 owl:Class MONDO:0017384 biolink:NamedThing acute generalized exanthematous pustulosis A widespread acute rash characterized by fever and multiple small pustules on a reddish background. tmpaxzxjjyw_mondo_relaxed.owl toxic pustuloderma|pustular drug eruption|AGEP ICD9:709.8|MESH:D056150|MedDRA:10048799|Orphanet:293173|SCTID:702617007|NCIT:C112122|UMLS:C0877055 owl:Class CL:1000414 biolink:NamedThing endothelial cell of venule An endothelial cell that is part of the venule. tmpaxzxjjyw_mondo_relaxed.owl FMA:67762 cell owl:Class UBERON:0013151 biolink:NamedThing choroidal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004838 biolink:NamedThing orthostatic proteinuria tmpaxzxjjyw_mondo_relaxed.owl postural albuminuria ICD9:593.6|ICD10:R80.2|DOID:9617|UMLS:C0232867 owl:Class GO:1901653 biolink:NamedThing cellular response to peptide Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008242 biolink:NamedThing photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction tmpaxzxjjyw_mondo_relaxed.owl photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction|Herrmann syndrome|hereditary photomyoclonus associated with diabetes mellitus, deafness, nephropathy, and cerebral dysfunction MESH:C538113|GARD:0009267|OMIM:172500|SCTID:237612000|UMLS:C1809475|ICD9:583.9 owl:Class MONDO:0022983 biolink:NamedThing Dieterich disease tmpaxzxjjyw_mondo_relaxed.owl avascular necrosis of the metacarpal head|Dieterich's disease|Dieterich disease MESH:C536172|UMLS:C2931124|GARD:0000204 https://rarediseases.info.nih.gov/diseases/204/dieterichs-disease owl:Class UBERON:0003236 biolink:NamedThing epithelium of lower jaw tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002803 biolink:NamedThing right parietal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004384 biolink:NamedThing maxillary sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the maxillary sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. tmpaxzxjjyw_mondo_relaxed.owl inverted papilloma of the maxillary sinus|inverted papilloma of maxillary sinus|maxillary sinus inverted papilloma NCIT:C6840|DOID:7868|UMLS:C1334645 owl:Class MONDO:0006119 biolink:NamedThing breast mucosa-associated lymphoid tissue lymphoma An extranodal marginal zone B-cell lymphoma of mucosa associated lymphoid tissue that arises from the breast as a primary tumor. tmpaxzxjjyw_mondo_relaxed.owl breast mucosa-associated lymphoid tissue lymphoma|breast MALT lymphoma EFO:1000146|UMLS:C1332633|NCIT:C35688 owl:Class MONDO:0010347 biolink:NamedThing intellectual disability, X-linked 84 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked 84|mental retardation, X-linked 84|MRX84 MESH:C564501|OMIM:300505|UMLS:C1845297 owl:Class MONDO:0020542 biolink:NamedThing malignant Sertoli-Leydig cell tumor of ovary Malignant Sertoli-Leydig cell tumor of ovary is a rare malignant sex cord stromal tumor of ovary occuring typically in young women and characterized by manifestations of androgen excess (hirsutism, hair loss, amenorrhea, or oligomenorrhea), when functional. tmpaxzxjjyw_mondo_relaxed.owl malignant ovarian Sertoli-Leydig cell tumor|malignant ovarian sertoli-Leydig cell tumor|ovarian malignant Sertoli-Leydig cell tumor|ovarian sertoli-Leydig cell tumor, malignant|ovarian Sertoli-Leydig cell cancer|virilizing ovarian tumor|Androblastoma|malignant Sertoli-Leydig cell tumor of the ovary|Arrhenoblastoma|ovarian Sertoli-Leydig cell tumor, malignant UMLS:CN207443|ICD10:C56|SCTID:237795006|UMLS:C0342515|ICD9:239.5|Orphanet:99916 owl:Class MONDO:0036595 biolink:NamedThing ovarian Sertoli-Leydig cell tumor A benign or malignant sex cord-stromal tumor arising from the ovary. It is characterized by the presence of neoplastic Leydig cells. Signs and symptoms include hirsutism, menorrhagia and metrorrhagia. It may be associated with trisomy 8. tmpaxzxjjyw_mondo_relaxed.owl Sertoli-Leydig neoplasm of the ovary|ovarian Sertoli-Leydig cell tumor|arrhenoblastoma|Sertoli-Leydig neoplasm of ovary|androblastoma|Sertoli-Leydig cell tumor of ovary|ovarian Sertoli-Leydig cell neoplasm|Sertoli-Leydig cell tumor of the ovary SCTID:254866007|NCIT:C2880|EFO:1000429|UMLS:C0003810 owl:Class MONDO:0011632 biolink:NamedThing amyotrophic lateral sclerosis type 21 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the MATR3 gene. tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis 21|myopathy, distal, 2, formerly|MATR3 amyotrophic lateral sclerosis|vocal cord and pharyngeal dysfunction with distal myopathy, formerly|amyotrophic lateral sclerosis type 21|amyotrophic lateral sclerosis caused by mutation in MATR3|vocal cord and pharyngeal dysfunction with distal myopathy|ALS21|myopathy, distal, 2 Orphanet:600|OMIM:606070|DOID:0060212|Orphanet:803|NCIT:C168755 owl:Class MONDO:0011130 biolink:NamedThing sebaceous gland hyperplasia, familial presenile tmpaxzxjjyw_mondo_relaxed.owl sebaceous gland hyperplasia, familial presenile OMIM:601700|UMLS:C1866428|GARD:0010031|MESH:C537530 https://rarediseases.info.nih.gov/diseases/10031/sebaceous-gland-hyperplasia-familial-presenile owl:Class MONDO:0019869 biolink:NamedThing mosaic trisomy 22 Mosaic trisomy 22 isa chromosome disorder in which chromosome 22 is present three times, instead of the usual two times, in some cells of the body. The range and severity of the disorder can vary widely. Some of the features that have been associated with this conditioninclude growth delays,cognitive deficiencies, unequal developmentof the two sides of the body (hemidystrophy), webbing of the neck, abnormal deviation of the elbows when extended (cubitus valgus), multiple pigmented moles or birthmarks, distinctive malformations of the head and face, and other physical abnormalities. A number of cases of children with mosaic trisomy 22 and normal growth and development have also been described. tmpaxzxjjyw_mondo_relaxed.owl Mosaic trisomy chromosome 22|Mosaic trisomy type 22|trisomy 22 mosaicism Orphanet:96068|MESH:C536796|ICD10:Q92.1|SCTID:764625002|GARD:0006085 https://rarediseases.info.nih.gov/diseases/6085/mosaic-trisomy-22 owl:Class MONDO:0022759 biolink:NamedThing trisomy 22 Trisomy 22 is a chromosome disorder in which an extra (third) copy of chromosome 22 is present in every cell of the body where there should normally only be two copies. This condition is commonly found in miscarriages, but only rarely in liveborn infants. Most affected individuals die shortly before or shortly after birth due to severe complications. Common features include an underdeveloped midface (midface hypoplasia)with flat/broad nasal bridge, malformed ears with pits or tags, cleft palate, hypertelorism (wide-spaced eyes), microcephaly and other cranial abnormalities, congenital heart disease, genital abnormalities, and intrauterine growth restriction (IUGR). tmpaxzxjjyw_mondo_relaxed.owl chromosome 22 trisomy SCTID:205655003|GARD:0005335|MESH:C536799|UMLS:C0265490 https://rarediseases.info.nih.gov/diseases/5335/trisomy-22 owl:Class GO:0005179 biolink:NamedThing hormone activity The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. tmpaxzxjjyw_mondo_relaxed.owl glycopeptide hormone|lipopeptide hormone|peptide hormone|cAMP generating peptide activity owl:Class MONDO:0016067 biolink:NamedThing Crandall syndrome This syndrome is characterized by progressive sensorineural deafness, alopecia and hypogonadism with LH and GH deficiencies. It has been described in three brothers. It resembles Bjrnstad's syndrome that combines irregular pili torti and deafness. It is probably inherited as and autosomal recessive disorder. tmpaxzxjjyw_mondo_relaxed.owl alopecia deafness hypogonadism|alopecia-sensorineural deafness-hypogonadism syndrome|alopecia-deafness-hypogonadism syndrome Orphanet:202|SCTID:278098005|ICD9:704.8|GARD:0001561|UMLS:C0432348 https://rarediseases.info.nih.gov/diseases/1561/crandall-syndrome owl:Class HGNC:18746 biolink:NamedThing SLURP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5465 biolink:NamedThing IGF1R tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030089 biolink:NamedThing diabetes mellitus, permanent neonatal 4 tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, permanent neonatal 4|PNDM4|DIABETES MELLITUS, PERMANENT NEONATAL 4 OMIM:618858 owl:Class MONDO:0007428 biolink:NamedThing deafness-craniofacial syndrome Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl deafness craniofacial syndrome|deafness-craniofacial syndrome Orphanet:3241|GARD:0001686|OMIM:125230|SCTID:716245003|MESH:C565118|UMLS:C1852278|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/1686/deafness-craniofacial-syndrome owl:Class HP:0002921 biolink:NamedThing Abnormality of the cerebrospinal fluid An abnormality of the cerebrospinal fluid (CSF). tmpaxzxjjyw_mondo_relaxed.owl Abnormal CSF findings|Abnormality of the CSF UMLS:C0151583 The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). human_phenotype owl:Class GO:0009205 biolink:NamedThing purine ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine ribonucleoside triphosphate metabolism owl:Class MONDO:0008546 biolink:NamedThing thanatophoric dysplasia type 1 Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly. tmpaxzxjjyw_mondo_relaxed.owl lethal short-limbed Platyspondylic dwarfism, San Diego type|thanatophoric dysplasia type I|thanatophoric dwarfism|TD1|thanatophoric dwarfism type 1|type 1 thanatophoric dysplasia|thanatophoric dwarfism 1|PLSD San Diego type|Platyspondylic lethal skeletal dysplasia, San Diego type|thanatophoric dysplasia, type I|thanatophoric dysplasia, type 1|thanatophoric dysplasia ICD10:Q77.1|OMIM:187600|Orphanet:2655|GARD:0009295|UMLS:C1868678|GARD:0004889|NCIT:C98583|UMLS:C1300256|Orphanet:1860 owl:Class HGNC:3267 biolink:NamedThing EIF2S3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002383 biolink:NamedThing Encephalitis tmpaxzxjjyw_mondo_relaxed.owl Brain inflammation MSH:D004660|SNOMEDCT_US:45170000|UMLS:C0014038 human_phenotype owl:Class MONDO:0015316 biolink:NamedThing congenital laryngeal palsy Congenital laryngeal palsy is a rare larynx anomaly characterized by unilateral or bilateral paralysis of the vocal cords as a result of dysfunction of the motor nerve supply to the larynx. Patients typically present at birth (or shortly thereafter) with stridor, weak or breathy cry, dysphonia or aphonia, feeding or aspiration difficulties and, occasionally, respiratory compromise. Neurological disease, masses that cause compression and aberrant vessels are often associated. Most cases resolve spontaneously over 6-12 months. tmpaxzxjjyw_mondo_relaxed.owl congenital vocal cord paralysis GARD:0012713|Orphanet:137932|UMLS:C0396058|ICD10:J38.0 https://rarediseases.info.nih.gov/diseases/12713/congenital-laryngeal-palsy owl:Class MONDO:0044738 biolink:NamedThing Gabriele de Vries syndrome tmpaxzxjjyw_mondo_relaxed.owl Gabriele-De Vries syndrome|YY1 haploinsufficiency syndrome|Gabriele-de Vries syndrome|GADEVS Orphanet:506358|UMLS:C4479652|OMIM:617557 owl:Class GO:0031335 biolink:NamedThing regulation of sulfur amino acid metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. tmpaxzxjjyw_mondo_relaxed.owl regulation of sulfur amino acid metabolism owl:Class HP:0031093 biolink:NamedThing Abnormal breast morphology Any anomaly of the structure of the breast. tmpaxzxjjyw_mondo_relaxed.owl 2017-06-30 15:41:38+00:00 robinp human_phenotype owl:Class HP:0000769 biolink:NamedThing Abnormality of the breast An abnormality of the breast. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the breast UMLS:C4025829 human_phenotype owl:Class MONDO:0005870 biolink:NamedThing necatoriasis A disorder caused by an infection with hookworms of the genus Necator, which settle in the host's small intestine, and cause abdominal pain, diarrhea, weight loss, and anemia. tmpaxzxjjyw_mondo_relaxed.owl DOID:2790|ICD9:126.9|MESH:D009332|NCIT:C34838|EFO:0007390|UMLS:C0027528|SCTID:36667009|ICD10:B76.1 owl:Class MONDO:0054791 biolink:NamedThing leukodystrophy, hypomyelinating, 16 tmpaxzxjjyw_mondo_relaxed.owl HLD16|leukodystrophy, hypomyelinating, 16 OMIM:617964|UMLS:CN244907 owl:Class MONDO:0002897 biolink:NamedThing secondary syphilis The secondary stage of syphilis typically that is characterized by generalized rash (including palms and soles), mucocutaneous lesions, and lymphadenopathy. It usually begins one to two months after the primary stage. tmpaxzxjjyw_mondo_relaxed.owl secondary syphilis of viscera or bone UMLS:C0149985|ICD9:091.9|SCTID:240557004|NCIT:C128413|MESH:C536773|UMLS:C0343676|ICD9:091.89|DOID:4157 owl:Class HP:0002840 biolink:NamedThing Lymphadenitis Inflammation of a lymph node. tmpaxzxjjyw_mondo_relaxed.owl Inflammation of the lymph nodes UMLS:C0024205|MSH:D008199|SNOMEDCT_US:19471005 human_phenotype owl:Class NCBITaxon:5855 biolink:NamedThing Plasmodium vivax tmpaxzxjjyw_mondo_relaxed.owl malaria parasite P. vivax|Haemamoeba vivax|Haemamoeba vivax Grassi and Feletti, 1890 GC_ID:1 ncbi_taxonomy owl:Class HP:0001880 biolink:NamedThing Eosinophilia Increased count of eosinophils in the blood. tmpaxzxjjyw_mondo_relaxed.owl High blood eosinophil count UMLS:C0014457|MSH:D004802 human_phenotype owl:Class HP:0001974 biolink:NamedThing Leukocytosis An abnormal increase in the number of leukocytes in the blood. tmpaxzxjjyw_mondo_relaxed.owl Elevated white blood count|High white blood count|Increased blood leukocyte number MSH:D007964|SNOMEDCT_US:111583006|UMLS:C0023518 human_phenotype owl:Class MONDO:0009190 biolink:NamedThing epiphyseal dysplasia of femoral head, myopia, and deafness tmpaxzxjjyw_mondo_relaxed.owl epiphyseal dysplasia of femoral head, myopia, and deafness MESH:C565585|UMLS:C1856918|OMIM:226950 owl:Class HGNC:11048 biolink:NamedThing SLC6A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:33833 biolink:NamedThing Vestibuliferida tmpaxzxjjyw_mondo_relaxed.owl Vestibulifera GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006147 biolink:NamedThing chronic eosinophilic leukemia, not otherwise specified A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of "idiopathic hypereosinophilic syndrome" is preferred. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl CELNOS|chronic eosinophilic leukemia/hypereosinophilic syndrome|eosinophilic leukemia|CEL|CEL/hypereosinophilic syndrome|chronic eosinophilic leukemia EFO:1000178|NCIT:C4563|ICDO:9964/3|UMLS:C0346421|ONCOTREE:CELNOS owl:Class MONDO:0002926 biolink:NamedThing clear cell sarcoma A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases. tmpaxzxjjyw_mondo_relaxed.owl malignant melanoma of soft tissues|chordoid sarcoma|adult soft part clear cell sarcoma|clear cell sarcoma/malignant melanoma of soft parts (excluding clear cell sarcoma of the kidney)|clear cell sarcoma of soft parts|clear cell sarcoma of soft tissue|clear cell sarcoma (morphologic abnormality)|melanoma, malignant, of soft parts|malignant melanoma of the soft parts|clear cell sarcoma - not kidney|malignant melanoma of soft parts MESH:D018227|NCIT:C3745|ICD9:171.9|UMLS:C0206651|DOID:4233|ONCOTREE:CCS|ICDO:9044/3|EFO:0008498|SCTID:402561003 owl:Class NCBITaxon:424551 biolink:NamedThing Solanoideae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033618 biolink:NamedThing Vissers-Bodmer syndrome tmpaxzxjjyw_mondo_relaxed.owl VIBOS OMIM:619033 owl:Class MONDO:0014793 biolink:NamedThing microcephaly-congenital cataract-psoriasiform dermatitis syndrome tmpaxzxjjyw_mondo_relaxed.owl microcephaly, congenital cataract, and psoriasiform dermatitis|smo deficiency|MCCPD|Sc4Mol deficiency|sterol-C4-methyl oxidase deficiency Orphanet:488168|OMIM:616834|UMLS:C4225189 owl:Class HP:0000421 biolink:NamedThing Epistaxis Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. tmpaxzxjjyw_mondo_relaxed.owl Nasal haemorrhage|Bloody nose|Nosebleed|Frequent nosebleeds|Nose bleeding|Nasal hemorrhage|Nose bleed SNOMEDCT_US:249366005|ICD9:784.7|UMLS:C0014591|MSH:D004844|SNOMEDCT_US:12441001|EFO:0003895|ICD10:R04.0|COHD:318556|NCIT:C26766 human_phenotype owl:Class MONDO:0019795 biolink:NamedThing acalvaria Acalvaria is a rare malformation defined as missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (e.g. holoprosencephaly or gyration anomalies). Skull base and facial bones are normal. tmpaxzxjjyw_mondo_relaxed.owl Acrania|primary acalvaria GARD:0000361|Orphanet:945|SCTID:203923004|MESH:C535570|ICD10:Q00.0|UMLS:C2930936 https://rarediseases.info.nih.gov/diseases/361/acalvaria owl:Class HGNC:3033 biolink:NamedThing ATN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16947 biolink:NamedThing ERLIN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024412 biolink:NamedThing Peptostreptococcus infectious disease A disease caused by infection with Peptostreptococcus. tmpaxzxjjyw_mondo_relaxed.owl Peptostreptococcus infection|Peptostreptococcus disease or disorder|Peptostreptococcus caused disease or disorder UMLS:C1096562|SCTID:135341000119101|ICD9:041.84 owl:Class MONDO:0023290 biolink:NamedThing grix Blankenship Peterson syndrome tmpaxzxjjyw_mondo_relaxed.owl craniofacial and osseous defects intellectual disability|craniofacial and osseous defects mental retardation GARD:0002567 https://rarediseases.info.nih.gov/diseases/2567/grix-blankenship-peterson-syndrome owl:Class MONDO:0100474 biolink:NamedThing mild ichthyosis vulgaris An instance of ichthyosis vulgaris in which the disease presentation is mild in severity. Heterozygote FLG mutation carriers often have mild manifestations. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2360 owl:Class MONDO:0006488 biolink:NamedThing vaginal carcinosarcoma An aggressive mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant epithelial component and a malignant mesenchymal component. tmpaxzxjjyw_mondo_relaxed.owl malignant vaginal mixed epithelial and mesenchymal tumor|vaginal carcinosarcoma|vaginal malignant mixed mesodermal (Mullerian) tumor|vaginal mixed epithelial and mesenchymal tumor|vaginal malignant mixed Mullerian tumor|vaginal malignant mixed mesodermal (Müllerian) tumor DOID:136|NCIT:C40278|UMLS:C1519918|UMLS:C1512974|EFO:1000618 owl:Class MONDO:0005103 biolink:NamedThing well-differentiated liposarcoma A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation. tmpaxzxjjyw_mondo_relaxed.owl atypical lipoma|WDLS|atypical lipomatous tumor|well-differentiated liposarcoma|well differentiated liposarcoma|well differentiated liposarcoma of deep soft tissue|ALT UMLS:C1370889|ONCOTREE:WDLS|ICD10:C49.9|EFO:0000736|ICDO:8851/3|NCIT:C4250|Orphanet:99971 owl:Class MONDO:0011197 biolink:NamedThing hereditary thermosensitive neuropathy Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy. tmpaxzxjjyw_mondo_relaxed.owl neuropathy, hereditary thermosensitive MESH:C566575|OMIM:602107|SCTID:715645004|ICD10:G60.0|UMLS:C1865856|Orphanet:84093 owl:Class MONDO:0000245 biolink:NamedThing tinea imbricata A tinea corporis that results in fungal infection located in skin, has material basis in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. tmpaxzxjjyw_mondo_relaxed.owl ICD10:B35.5|SCTID:240699006|UMLS:C0040255|DOID:0050116 owl:Class MONDO:0001461 biolink:NamedThing tinea corporis A dermatophyte disease of the glabrous skin, excluding the scalp, beard, face, hands, feet, and groin. tmpaxzxjjyw_mondo_relaxed.owl dermatophytosis of the body|dermatophytosis of the trunk UMLS:C0040252|ICD10:B35.4|ICD9:110.5|DOID:12179|SCTID:84849002|UMLS:C0546826 owl:Class HGNC:6833 biolink:NamedThing MAOA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014506 biolink:NamedThing hypomyelinating leukodystrophy 9 Any leukodystrophy in which the cause of the disease is a mutation in the RARS gene. tmpaxzxjjyw_mondo_relaxed.owl leukodystrophy, hypomyelinating, type 9|leukodystrophy caused by mutation in RARS|hypomyelinating leukodystrophy type 9|RARS leukodystrophy|RARS-related autosomal recessive hypomyelinating leukodystrophy|HLD9|leukodystrophy, hypomyelinating, 9 ICD10:E75.2|Orphanet:438114|UMLS:C4015323|DOID:0060791|OMIM:616140 owl:Class MONDO:0004063 biolink:NamedThing intermediate cell type iris melanoma Iris melanoma characterized by the presence of intermediate cells which are similar to but smaller than epithelioid cells. tmpaxzxjjyw_mondo_relaxed.owl Intermediate cell type iris melanoma|intermediate cell type uveal melanoma of iris|iris intermediate cell type uveal melanoma|iris mixed cell melanoma DOID:6993|UMLS:C1334210|NCIT:C6101 owl:Class MONDO:0019758 biolink:NamedThing midline interhemispheric variant of holoprosencephaly Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter. tmpaxzxjjyw_mondo_relaxed.owl MIH|MIH type HPE|middle interhemispheric variant of holoprosencephaly|MIHF|middle interhemispheric fusion variant|Syntelencephaly|MIHV OMIM:610829|UMLS:CN206692|OMIM:609637|Orphanet:93926|ICD10:Q04.2|OMIM:157170 owl:Class NCBITaxon:40119 biolink:NamedThing Parvovirinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:0000440 biolink:NamedThing melanocyte stimulating hormone secreting cell A cell of the intermediate pituitary that produces melanocyte stimulating hormone. tmpaxzxjjyw_mondo_relaxed.owl melanotrope|melanotroph BTO:0002277 cell owl:Class GO:0033001 biolink:NamedThing Fc-gamma receptor III complex A protein complex composed of an Fc-gamma RIII alpha chain and an Fc-epsilon RI gamma chain dimer with or without an Fc-epsilon RI beta chain and additional signaling components. The complex functions primarily as an activating receptor for IgG. tmpaxzxjjyw_mondo_relaxed.owl FcgRIII complex|immunoglobulin G receptor complex|IgG receptor complex owl:Class GO:0032997 biolink:NamedThing Fc receptor complex A protein complex composed of a subunit or subunits capable of binding the Fc portion of an immunoglobulin with additional signaling components. The complex functions as a receptor for immunoglobulin. tmpaxzxjjyw_mondo_relaxed.owl immunoglobulin receptor complex|FcR complex|Fc-receptor complex owl:Class UBERON:0002202 biolink:NamedThing submucosa of trachea tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020820 biolink:NamedThing distal arthrogryposis type 2B1 tmpaxzxjjyw_mondo_relaxed.owl DA2B1 OMIM:601680|DOID:0111600 owl:Class MONDO:0060733 biolink:NamedThing humerofemoral hypoplasia with radiotibial ray deficiency tmpaxzxjjyw_mondo_relaxed.owl HHRRD|humerofemoral hypoplasia with radiotibial ray deficiency|Hfhrtrd OMIM:618022|UMLS:CN248526 owl:Class MONDO:0010529 biolink:NamedThing X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait. tmpaxzxjjyw_mondo_relaxed.owl X-linked ataxia-deafness syndrome|spinocerebellar ataxia, X-linked type 3|spinocerebellar ataxia, X-linked 3|SCAX3|Scax3|ataxia-deafness syndrome X-linked|spinocerebellar ataxia X-linked type 3|ataxia-deafness syndrome, X-linked OMIM:301790|GARD:0009981|MESH:C537315|ICD10:G11.1|UMLS:C1844936|SCTID:719817002|Orphanet:85297 https://rarediseases.info.nih.gov/diseases/9981/spinocerebellar-ataxia-x-linked-type-3 owl:Class GO:0030194 biolink:NamedThing positive regulation of blood coagulation Any process that activates or increases the frequency, rate or extent of blood coagulation. tmpaxzxjjyw_mondo_relaxed.owl activation of blood coagulation|stimulation of blood coagulation|upregulation of blood coagulation|up regulation of blood coagulation|up-regulation of blood coagulation owl:Class GO:1900048 biolink:NamedThing positive regulation of hemostasis Any process that activates or increases the frequency, rate or extent of hemostasis. tmpaxzxjjyw_mondo_relaxed.owl activation of hemostasis|up regulation of hemostasis|upregulation of hemostasis|up-regulation of hemostasis owl:Class MONDO:0016311 biolink:NamedThing Bockenheimer syndrome tmpaxzxjjyw_mondo_relaxed.owl genuine diffuse phlebectasia ICD10:Q27.4|UMLS:CN201119|Orphanet:217008|GARD:0013063 owl:Class UBERON:0003682 biolink:NamedThing palatal muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014198 biolink:NamedThing mitochondrial DNA depletion syndrome 13 Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene. tmpaxzxjjyw_mondo_relaxed.owl BXL4-related early-onset mitochondrial encephalopathy|mitochondrial DNA depletion syndrome caused by mutation in FBXL4|mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|FBXL4 deficiency|MTDPS13|mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies|FBXL4 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome type 13|mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)|FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome|encephalomyopathic mitochondrial DNA depletion syndrome-13 GARD:0013298|UMLS:C3809592|SCTID:765403009|ICD10:E88.8|Orphanet:369897|OMIM:615471|DOID:0080131 owl:Class GO:0045860 biolink:NamedThing positive regulation of protein kinase activity Any process that activates or increases the frequency, rate or extent of protein kinase activity. tmpaxzxjjyw_mondo_relaxed.owl upregulation of protein kinase activity|up-regulation of protein kinase activity|up regulation of protein kinase activity|stimulation of protein kinase activity owl:Class UBERON:0014671 biolink:NamedThing distal interphalangeal joint of manural digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014680 biolink:NamedThing distal interphalangeal joint of digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33743 biolink:NamedThing manganese group molecular entity tmpaxzxjjyw_mondo_relaxed.owl manganese group molecular entities|manganese group molecular entity owl:Class MONDO:0100147 biolink:NamedThing SATB2 associated disorder A syndromic intellectual disability disorder that is characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Most distinctive features are neurodevelopmental with invariably severely limited speech, cleft or high arched palate, dental anomalies (crowding, macrodontia, abnormal shape), and behavioral issues with or without bone or brain anomalies. tmpaxzxjjyw_mondo_relaxed.owl SATB2 associated disorder http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010400 biolink:NamedThing X-linked scapuloperoneal muscular dystrophy X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging. tmpaxzxjjyw_mondo_relaxed.owl X-linked SPMD|X-linked scapuloperoneal syndrome|scapuloperoneal myopathy, FHL1-related|SPM|scapuloperoneal myopathy, X-linked dominant ICD10:G71.0|GARD:0007608|OMIM:300695|UMLS:C2678061|Orphanet:431272 owl:Class MONDO:0000727 biolink:NamedThing scapuloperoneal myopathy A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. tmpaxzxjjyw_mondo_relaxed.owl myopathy, scapuloperoneal|scapuloperoneal syndrome, myopathic type MESH:C536624|UMLS:C2931268|DOID:0060253|OMIM:300695|OMIM:181430 owl:Class CL:1000283 biolink:NamedThing smooth muscle fiber of transverse colon A smooth muscle cell that is part of the transverse colon. tmpaxzxjjyw_mondo_relaxed.owl non-striated muscle fiber of transverse colon FMA:17519 cell owl:Class CL:1000280 biolink:NamedThing smooth muscle cell of colon A smooth muscle cell that is part of the colon. tmpaxzxjjyw_mondo_relaxed.owl non-striated muscle fiber of colon FMA:15663 cell owl:Class UBERON:0005456 biolink:NamedThing jugular foramen tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001501 biolink:NamedThing skeletal system development The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). tmpaxzxjjyw_mondo_relaxed.owl skeletal development owl:Class MONDO:0021297 biolink:NamedThing carcinoma in situ of nasopharynx A in situ carcinoma that involves the nasopharynx. tmpaxzxjjyw_mondo_relaxed.owl stage 0 nasopharyngeal carcinoma aJCC v8|stage 0 nasopharyngeal throat cancer|stage 0 nasopharyngeal carcinoma aJCC v6|nasopharynx carcinoma in situ|stage 0 nasopharynx carcinoma|nasopharyngeal carcinoma in situ|stage 0 nasopharyngeal carcinoma|stage 0 nasopharyngeal cancer|stage 0 nasopharyngeal carcinoma in situ|stage 0 carcinoma of the nasopharynx|stage 0 carcinoma of nasopharynx|nasopharynx in situ carcinoma|stage 0 nasopharyngeal carcinoma aJCC v6, v7, and v8|carcinoma in situ of nasopharynx|stage 0 nasopharyngeal carcinoma aJCC v7|carcinoma in situ of the nasopharynx SCTID:92664001|NCIT:C9099|UMLS:C0347096|UMLS:C4331312 owl:Class MONDO:0023152 biolink:NamedThing fibrocartilaginous embolism Fibrocartilaginous embolism (FCE) is a rare type of embolism (sudden blocking of an artery) that occurs in the spinal cord. FCE occurs when materials that are usually found within the vertebral disc of the spine enter into the nearby vascular system (veins and arteries) and block one of the spinal cord vessels. The signs and symptoms of FCE often develop after a minor or even unnoticed btriggering eventb such as lifting, straining, or falling. Symptoms of FCE may include neck and/or back pain, progressive muscle weakness, and paralysis.The exact underlying cause of FCE is poorly understood. Most cases occur sporadically in people with no family history of the disease. Diagnosis is based on imaging of the spinal cord and ruling out other causes of a blockage of the vascular system within the spinal cord. Treatment is generally focused on preventing possible complications and improving quality of life with medications and physical therapy. tmpaxzxjjyw_mondo_relaxed.owl embolism, fibrocartilaginous GARD:0009718|MESH:C537927|UMLS:C2931666 https://rarediseases.info.nih.gov/diseases/9718/fibrocartilaginous-embolism owl:Class GO:2001020 biolink:NamedThing regulation of response to DNA damage stimulus Any process that modulates the frequency, rate or extent of response to DNA damage stimulus. tmpaxzxjjyw_mondo_relaxed.owl regulation of DNA damage response|regulation of cellular response to DNA damage stimulus|regulation of response to genotoxic stress|regulation of cellular DNA damage response owl:Class GO:0002645 biolink:NamedThing positive regulation of tolerance induction Any process that activates or increases the frequency, rate, or extent of tolerance induction. tmpaxzxjjyw_mondo_relaxed.owl upregulation of tolerance induction|activation of tolerance induction|up-regulation of tolerance induction|stimulation of tolerance induction|up regulation of tolerance induction owl:Class MONDO:0009503 biolink:NamedThing pyruvate dehydrogenase E3-binding protein deficiency Pyruvate dehydrogenase E3-binding protein deficiency is a rare mild form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis and neurological dysfunction. tmpaxzxjjyw_mondo_relaxed.owl lipoamide dehydrogenase deficiency|PDHXD|diaphorase deficiency|branched chain alpha-ketoacid dehydrogenase complex deficiency|2-oxoglutarate complex deficiency|dihydrolipoyl dehydrogenase deficiency|pyruvate dehydrogenase E3-binding protein deficiency|pyruvate dehydrogenase protein X component deficiency|pyruvate dehydrogenase complex component E3 deficiency|Glycine cleavage system L protein deficiency|pyruvate dehydrogenase E3-binding PROTEIN deficiency|lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex OMIM:245349|Orphanet:255182|UMLS:C1855553|Orphanet:765|ICD10:E74.4 owl:Class MONDO:0009623 biolink:NamedThing Nijmegen breakage syndrome Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections. tmpaxzxjjyw_mondo_relaxed.owl Seemanova syndrome 2|ataxia-telangiectasia variant V1|microcephaly, normal intelligence and immunodeficiency|microcephaly-immunodeficiency-lymphoreticuloma syndrome|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|AT V1|Seemanova syndrome|ataxia-telangiectasia variant V2|Nonsyndromal microcephaly autosomal recessive with normal intelligence|NBs|immunodeficiency-microcephaly-chromosomal instability syndrome|Nonsyndromal microcephaly, autosomal recessive, with normal intelligence|Seemanova syndrome type 2|microcephaly with normal intelligence immunodeficiency and lymphoreticular malignancies|ataxia-telangiectasia, variant 1|Berlin breakage syndrome|immunodeficiency, microcephaly, and chromosomal instability|Nijmegen breakage syndrome|microcephaly immunodeficiency lymphoreticuloma MedDRA:10067857|DOID:7400|GARD:0003904|UMLS:CN860323|MESH:D049932|ICD10:Q87.8|NCIT:C4692|SCTID:234638009|OMIM:251260|UMLS:C0398791|Orphanet:647 https://rarediseases.info.nih.gov/diseases/3904/nijmegen-breakage-syndrome owl:Class ENVO:01000334 biolink:NamedThing talus slope A talus slope is a slope which has a surface layer composed of scree. tmpaxzxjjyw_mondo_relaxed.owl scree slope owl:Class MONDO:0024559 biolink:NamedThing AAT1 tmpaxzxjjyw_mondo_relaxed.owl aneurysm, thoracic aortic|Erdheim cystic medial necrosis of aorta|FAA1|aortic aneurysm, familial thoracic 1|AAT1|annuloaortic ectasia|aortic aneurysm, familial thoracic|aortic dissection, familial Orphanet:229|UMLS:C0392775|OMIM:607086|Orphanet:91387 owl:Class HGNC:16762 biolink:NamedThing ZNF423 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11822 biolink:NamedThing TIMP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001008 biolink:NamedThing blepharophimosis The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl blepharophimosis|blepharophimosis (disease) blepharophimosis (disease) GARD:0005932|ICD9:374.46|MESH:D016569|DOID:10348|HP:0000581|ICD10:H02.52 owl:Class NCBITaxon:5863 biolink:NamedThing Piroplasmida tmpaxzxjjyw_mondo_relaxed.owl Piroplasmids GC_ID:1 ncbi_taxonomy owl:Class UBERON:0016542 biolink:NamedThing limbic cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071295 biolink:NamedThing cellular response to vitamin Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011180 biolink:NamedThing broad terminal phalanges, familial tmpaxzxjjyw_mondo_relaxed.owl broad terminal phalanges, familial UMLS:C1865923|OMIM:602071|MESH:C566588 owl:Class MONDO:0020569 biolink:NamedThing intermediate DEND syndrome Intermediate DEND syndrome (iDEND) is a rare mild form of DEND syndrome, a neonatal diabetes mellitus, developmental delay and epilepsy condition. The intermediate form is characterized clinically by mild motor, speech or cognitive delay and an absence of epilepsy. tmpaxzxjjyw_mondo_relaxed.owl developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form UMLS:CN207495|Orphanet:99989 owl:Class MONDO:0018255 biolink:NamedThing spondylometaphyseal dysplasia, Czarny-Ratajczak type tmpaxzxjjyw_mondo_relaxed.owl Orphanet:370019|ICD10:Q77.8 owl:Class MONDO:0000367 biolink:NamedThing taeniasis A parasitic infection caused by tapeworms of the genus Taenia. Humans are infected by eating undercooked or raw meat of infected animals. It is usually an asymptomatic infection and patients may become aware of the infection by noticing segments of the tapeworm in their feces. If symptoms are present, they include nausea, abdominal pain, indigestion, constipation, or diarrhea. tmpaxzxjjyw_mondo_relaxed.owl Taenia infection|Taenia saginata infectious disease|infection by taenia saginata|taenia saginata infection|beef tapeworm infection|unarmed tapeworm infection|infections, Taenia|infection by Taeniarhynchus saginatus UMLS:C0152073|NCIT:C85180|MESH:D013622|SCTID:69163003|ICD9:123.2|ICD10:B68|DOID:0050596|EFO:1001433|ICD10:B68.1 owl:Class MONDO:0004826 biolink:NamedThing urethral calculus A concretion in the urethra. tmpaxzxjjyw_mondo_relaxed.owl urethra urolithiasis|urolithiasis of urethra|urethral Stone DOID:9589|SCTID:20342001|NCIT:C26995|ICD9:594.2|UMLS:C0162301|ICD10:N21.1 owl:Class MONDO:0024647 biolink:NamedThing urolithiasis Stone(s) within the urinary tract. tmpaxzxjjyw_mondo_relaxed.owl calculus|urinary stones|urolithiasis|kidney stone UMLS:C0451641|SCTID:95566004|DOID:0080653|NCIT:C114688|ICD10:N21 owl:Class MONDO:0007474 biolink:NamedThing duodenal ulcer due to antral G-cell hyperfunction tmpaxzxjjyw_mondo_relaxed.owl duodenal ulcer due to antral G-cell hyperfunction|hypergastrinemic, hyperpepsinogenemic duodenal ulcer MESH:C535721|GARD:0009743|OMIM:126840|UMLS:C1852009 https://rarediseases.info.nih.gov/diseases/9743/duodenal-ulcer-due-to-antral-g-cell-hyperfunction owl:Class MONDO:0021697 biolink:NamedThing chlamydia infectious disease Infections with bacteria of the genus CHLAMYDIA. tmpaxzxjjyw_mondo_relaxed.owl Chlamydia infectious disease|chlamydia infectious disease|infection, Chlamydia|Chlamydia caused disease or disorder|Chlamydophila disease or disorder|Chlamydia infection|Chlamydophila caused disease or disorder|Chlamydia disease or disorder|infections, Chlamydia EFO:1000863|MESH:D002690|MESH:D023521 owl:Class UBERON:0005287 biolink:NamedThing tela choroidea of fourth ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004174 biolink:NamedThing secretory uterine corpus endometrioid adenocarcinoma An endometrioid adenocarcinoma arising from the endometrium. Morphologically it is characterized by the presence of malignant glandular cells containing glycogen vacuoles which are usually subnuclear and reminiscent of early secretory endometrium. tmpaxzxjjyw_mondo_relaxed.owl secretory uterine corpus endometrioid adenocarcinoma|endometrial endometrioid adenocarcinoma, secretory variant NCIT:C27839|ICDO:8382/3|UMLS:C1336907|DOID:7289 owl:Class MONDO:0006192 biolink:NamedThing endometrial endometrioid adenocarcinoma A primary endometrial adenocarcinoma composed of neoplastic cells that form complex glandular patterns associated with budding and branching of the neoplastic glands. The neoplastic glands resemble those of the normal endometrium and may or may not be associated with sheet-like proliferation of malignant cells. Endometrioid adenocarcinoma is the most commonly seen morphologic variant of endometrial adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl uterine corpus endometrioid adenocarcinoma|endometrioid carcinoma of the endometrium|endometrioid adenocarcinoma of the endometrium|uterine endometrioid carcinoma|endometrioid endometrial adenocarcinoma|uterine corpus endometrioid carcinoma|endometrioid endomet. adenocar.|endometrioid adenocarcinoma of endometrium|endometrial endometrioid adenocarcinoma|endometrioid carcinoma of endometrium EFO:1000233|UMLS:C1336905|ONCOTREE:UEC|NCIT:C6287 owl:Class MONDO:0011483 biolink:NamedThing polycystic bone disease tmpaxzxjjyw_mondo_relaxed.owl Pcbd|polycystic bone disease GARD:0008571|MESH:C536324|OMIM:604771|UMLS:C1858143 https://rarediseases.info.nih.gov/diseases/8571/polycystic-bone-disease owl:Class ECTO:9001982 biolink:NamedThing exposure to anti-inflammatory agent An exposure to anti-inflammatory agent. tmpaxzxjjyw_mondo_relaxed.owl exposure to anti-inflammatory agent owl:Class MONDO:0002666 biolink:NamedThing pancreatic signet ring cell adenocarcinoma A rare pancreatic ductal adenocarcinoma with poor prognosis. It is characterized by the presence of malignant signet ring cells infiltrating the pancreatic parenchyma in an individual cell pattern. tmpaxzxjjyw_mondo_relaxed.owl pancreatic signet ring cell carcinoma|signet Ring cell carcinoma of the pancreas|pancreas signet ring cell carcinoma|signet Ring cell carcinoma of pancreas|pancreatic signet Ring cell carcinoma DOID:3497|NCIT:C5720|UMLS:C1335317 owl:Class NCBITaxon:44556 biolink:NamedThing Phlebotomus tmpaxzxjjyw_mondo_relaxed.owl Phlebotomus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:13203 biolink:NamedThing Phlebotomus tmpaxzxjjyw_mondo_relaxed.owl Phlebotomus GC_ID:1|PMID:9835021 ncbi_taxonomy owl:Class UBERON:0008878 biolink:NamedThing palmar part of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:23976 biolink:NamedThing ethanediol Any diol that is ethane or substituted ethane carrying two hydroxy groups. tmpaxzxjjyw_mondo_relaxed.owl ethanediols owl:Class GO:0045651 biolink:NamedThing positive regulation of macrophage differentiation Any process that activates or increases the frequency, rate or extent of macrophage differentiation. tmpaxzxjjyw_mondo_relaxed.owl up regulation of macrophage differentiation|upregulation of macrophage differentiation|activation of macrophage differentiation|up-regulation of macrophage differentiation|stimulation of macrophage differentiation owl:Class MONDO:0006207 biolink:NamedThing fallopian tube carcinosarcoma A carcinosarcoma that arises from the fallopian tube. It usually affects postmenopausal women and presents with abdominal pain, abdominal distension or genital bleeding. The prognosis is usually poor. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube malignant mixed mesodermal (Müllerian) tumor|fallopian tube malignant mixed Mullerian tumor|fallopian tube carcinosarcoma|fallopian tube malignant mixed mesodermal (mullerian) tumor EFO:1000252|NCIT:C40124|UMLS:C1517117|DOID:1970 owl:Class MONDO:0002928 biolink:NamedThing carcinosarcoma A malignant tumor composed of a mixture of carcinomatous and sarcomatous elements. tmpaxzxjjyw_mondo_relaxed.owl mullerian mixed tumor (morphologic abnormality)|mixed Mullerian tumor|mesodermal mixed tumor|malignant mixed mesodermal (mullerian) tumor|mullerian mixed tumor|mixed mesodermal (mullerian) tumor|mixed tumor, Mullerian|carcinosarcoma, malignant|carcinosarcoma|MMMT|malignant mixed Mullerian tumor|mesodermal mixed tumor (morphologic abnormality) GARD:0006966|ICDO:8980/3|UMLS:C0007140|UMLS:C1334603|UMLS:C0206627|DOID:4236|MESH:D002296|NCIT:C34448 owl:Class MONDO:0018025 biolink:NamedThing chronic actinic dermatitis tmpaxzxjjyw_mondo_relaxed.owl actinic reticuloid|chronic photosensitivity dermatitis UMLS:C1510437|SCTID:52636001|ICD10:L57.8|ICD9:692.73|Orphanet:330064 owl:Class HGNC:25676 biolink:NamedThing GORAB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001525 biolink:NamedThing thyrocalcitonin secretion disease tmpaxzxjjyw_mondo_relaxed.owl disorder of thyrocalcitonin secretion SCTID:190303007|ICD9:246.0|UMLS:C0701822|DOID:12424 owl:Class MONDO:0017628 biolink:NamedThing myospherulosis tmpaxzxjjyw_mondo_relaxed.owl spherulocytosis|subcutaneous spherulocystic disease Orphanet:306553|UMLS:C0027123|SCTID:81139004|ICD9:136.8 owl:Class MONDO:0030868 biolink:NamedThing spermatogenic failure 49 tmpaxzxjjyw_mondo_relaxed.owl SPGF49|spermatogenic failure 49 OMIM:619144 owl:Class MONDO:0033968 biolink:NamedThing immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:529977 owl:Class MONDO:0011482 biolink:NamedThing dilated cardiomyopathy 1I Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DES gene. tmpaxzxjjyw_mondo_relaxed.owl dilated cardiomyopathy type 1I|familial isolated dilated cardiomyopathy caused by mutation in DES|cardiomyopathy, dilated, 1I|cardiomyopathy, dilated, type 1I|DES familial isolated dilated cardiomyopathy|CMD1I DOID:0110431|MESH:C565752|UMLS:C1858154|OMIM:604765|ICD10:I42.0 owl:Class ENVO:09200014 biolink:NamedThing temperature of water The temperature of some water. tmpaxzxjjyw_mondo_relaxed.owl water temperature owl:Class UBERON:0011278 biolink:NamedThing nail of pedal digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007237 biolink:NamedThing familial juvenile hypertrophy of the breast Familial juvenile hypertrophy of the breast is a rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. tmpaxzxjjyw_mondo_relaxed.owl virginal breast hypertrophy|hypertrophy of the breast, juvenile|virginal mammary hypertrophy|juvenile macromastia|gigantomastia, juvenile|JHB|juvenile gigantomastia|familial juvenile gigantomastia Orphanet:180176|MESH:C536821|ICD10:N62|OMIM:113670|UMLS:CN226754 owl:Class MONDO:0015852 biolink:NamedThing excess breast volume or number tmpaxzxjjyw_mondo_relaxed.owl Orphanet:180170 owl:Class GO:0002764 biolink:NamedThing immune response-regulating signaling pathway The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to the activation, perpetuation, or inhibition of an immune response. tmpaxzxjjyw_mondo_relaxed.owl immune response-regulating signalling pathway owl:Class HP:0002846 biolink:NamedThing Abnormal B cell morphology A structural abnormality of B cells. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of B cells|Abnormal B cells UMLS:C4021748 B cells are bursal or bone marrow-derived lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. A simple definition of B lymphocytes is a population of cells that express clonally diverse cell surface immunoglobulin (Ig) receptors recognizing specific antigenic epitopes. Over 10 B cell-specific cell surface molecules have been identified by monoclonal antibodies, including CD19, which is considered a pan-B cell and possibly follicular dendritic cell marker, and CD20, which is considered to be a marker for mature B cells. human_phenotype owl:Class MONDO:0007763 biolink:NamedThing nonpapillary renal cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl nonpapillary renal carcinoma 1 locus|renal cell carcinoma, nonpapillary|hypernephroma|RCC|CCRCC|clear cell renal cell carcinoma|adenocarcinoma of kidney|clear cell renal cell adenocarcinoma ICD10:C64|Orphanet:422526|DOID:0050387|OMIM:144700|Orphanet:319276 https://github.com/monarch-initiative/mondo/issues/2262 owl:Class UBERON:0009570 biolink:NamedThing spinal cord sulcus limitans tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010524 biolink:NamedThing Agnosia Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions. tmpaxzxjjyw_mondo_relaxed.owl MSH:D000377|SNOMEDCT_US:42341009|UMLS:C0001816 peter 2009-09-20T11:33:03Z human_phenotype owl:Class HGNC:24229 biolink:NamedThing CIDEC tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051056 biolink:NamedThing regulation of small GTPase mediated signal transduction Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. tmpaxzxjjyw_mondo_relaxed.owl regulation of small GTPase-mediated signal transduction owl:Class UBERON:0015454 biolink:NamedThing pancreatic fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12814 biolink:NamedThing XPA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014978 biolink:NamedThing preimplantation embryonic lethality 2 Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene. tmpaxzxjjyw_mondo_relaxed.owl preimplantation embryonic lethality 2; PREMBL2|preimplantation embryonic lethality caused by mutation in PADI6|preimplantation embryonic lethality type 2|preimplantation embryonic lethality 2|PREMBL2|PADI6 preimplantation embryonic lethality OMIM:617234|UMLS:C4310659 owl:Class GO:0051245 biolink:NamedThing negative regulation of cellular defense response Any process that stops, prevents, or reduces the rate of the cellular defense response. tmpaxzxjjyw_mondo_relaxed.owl inhibition of cellular defense response|downregulation of cellular defense response|down regulation of cellular defense response|down-regulation of cellular defense response|negative regulation of cellular defence response owl:Class MONDO:0011361 biolink:NamedThing prostate cancer/brain cancer susceptibility tmpaxzxjjyw_mondo_relaxed.owl prostate cancer/brain cancer susceptibility|Pcbc|Capb OMIM:603688 owl:Class MONDO:0021758 biolink:NamedThing acquired agranulocytosis Agranulocytosis that is autoimmune in origin. tmpaxzxjjyw_mondo_relaxed.owl neutropenia, malignant|agranulocytosis, acquired|agranulocytic angina|granulocytopenia, primary MESH:C538171|GARD:0005717|SCTID:72050006 https://rarediseases.info.nih.gov/diseases/5717/acquired-agranulocytosis owl:Class MONDO:0001609 biolink:NamedThing agranulocytosis A decrease in the number of mature granulocytes (neutrophils, eosinophils, and basophils) in the peripheral blood. tmpaxzxjjyw_mondo_relaxed.owl Granulocytopenic disorder|Granulopenia|granulocytopenia ICD10:D70|MESH:D000380|GARD:0006545|DOID:12987|SCTID:417672002|UMLS:C0001824|NCIT:C2863|ICD9:288.8 owl:Class HP:0002725 biolink:NamedThing Systemic lupus erythematosus A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. tmpaxzxjjyw_mondo_relaxed.owl SLE UMLS:C0024141|SNOMEDCT_US:55464009|MSH:D008180 This is a bundled term that describes a disease rather than a phenotypic feature, but is left for convenience for annotations of lupus conceived of as a feature of another disease. human_phenotype owl:Class CL:0002243 biolink:NamedThing smooth muscle cell of sphincter of pupil A circular smooth muscle cell of the iris, innervated by the ciliary nerves (parasympathetic), and acting to contract the pupil. This muscle cell derives from neuroectoderm. This smooth muscle cell results from transformation of epithelial cells to smooth muscle cells. tmpaxzxjjyw_mondo_relaxed.owl smooth muscle fiber of sphincter of pupil|smooth muscle fibre of sphincter of pupil FMA:70611 tmeehan 2010-09-08T08:53:42Z cell owl:Class MONDO:0011021 biolink:NamedThing neuronal intestinal dysplasia, type B tmpaxzxjjyw_mondo_relaxed.owl neuronal intestinal dysplasia, type B|NID B OMIM:601223|Orphanet:2978|UMLS:C1832589 owl:Class MONDO:0007716 biolink:NamedThing alpha thalassemia-intellectual disability syndrome type 1 Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Hemoglobin H-related intellectual disability|ATR-16 syndrome|Alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16|ALPHA-thalassemia/intellectual disability syndrome, chromosome 16-related|ATR, deletion-type|ALPHA-thalassemia/mental retardation syndrome, chromosome 16-related|mental retardation with Hemoglobin H|alpha thalassemia-intellectual disability syndrome, deletion type|alpha thalassemia-retardation syndrome|ATR syndrome linked to chromosome 16|Hemoglobin H-related mental retardation|alpha-thalassemia/intellectual disability syndrome, type 1|Alpha thalassemia-intellectual disability syndrome, deletion type|Alpha-thalassemia/mental retardation syndrome, deletion-type|Alpha thalassemia-intellectual disability syndrome|intellectual disability with Hemoglobin H|chromosome 16P deletion syndrome|Alpha-thalassemia/intellectual disability syndrome, deletion-type|alpha-thalassemia/mental retardation syndrome, deletion-type|ATR syndrome, deletion type|alpha-thalassemia/intellectual disability syndrome, deletion-type|Alpha thalassemia-mental retardation syndrome|alpha-thalassemia-intellectual disability syndrome linked to chromosome 16|alpha-thalassemia/mental retardation syndrome, type 1 SCTID:277918006|UMLS:C0475813|OMIM:141750|Orphanet:98791|UMLS:C0795917|MESH:C563050|ICD10:D56.0|DOID:0110029|ICD9:282.49 owl:Class MONDO:0007000 biolink:NamedThing Treponema infectious disease An disease caused by infection with Treponema. tmpaxzxjjyw_mondo_relaxed.owl Treponema disease or disorder|Treponemal infection|infections, Treponemal|infection, Treponemal|Bejels|Treponema caused disease or disorder|bejel MESH:D014211|EFO:1001217|NCIT:C85197|GARD:0007798 owl:Class HGNC:20773 biolink:NamedThing TUBB8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33721 biolink:NamedThing carbohydrate acid anion tmpaxzxjjyw_mondo_relaxed.owl carbohydrate acid anion|carbohydrate acid anions owl:Class MONDO:0010255 biolink:NamedThing diabetes mellitus, insulin-dependent, X-linked, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, insulin-dependent, X-linked, susceptibility to|Iddmx|insulin-dependent diabetes mellitus, X-linked, susceptibility to UMLS:C1848042|OMIM:300136 owl:Class MONDO:0024650 biolink:NamedThing drug-induced osteoporosis tmpaxzxjjyw_mondo_relaxed.owl drug-induced osteoporosis ICD9:733.09|SCTID:14651005 owl:Class MONDO:0100186 biolink:NamedThing GTP cyclohydrolase I deficiency with hyperphenylalaninemia tmpaxzxjjyw_mondo_relaxed.owl hyperphenylalaninemia due to GTP cyclohydrolase deficiency|HPABH4B|GTP cyclohydrolase I deficiency|hyperphenylalaninemia, Bh4-deficient, type B|GTPCH deficiency|dystonia, Dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency|hyperphenylalaninemia, BH4-deficient, B|GTP cyclohydrolase 1 deficiency UMLS:C0268467|Orphanet:2102|SCTID:23447005|Orphanet:238583|UMLS:C2673535|OMIM:233910|NCIT:C141442|GARD:0002844|ICD10:E70.1 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/2844/gtp-cyclohydrolase-i-deficiency owl:Class MONDO:0100184 biolink:NamedThing GTP cyclohydrolase I deficiency A disease characterized by a deficiency in GTP cyclohydrolase I, which leads to a consequent reduction in BH4 and reduces the activity of three BH4-cofactor dependent enzymes - phenylalanine hydroxylase, tyrosine hydroxylase, and tryptophan hydroxylase. GTP cyclohydrolase I deficiency encompasses a spectrum of disease that includes autosomal dominant and autosomal recessive forms, with severity correlating with the residual enzyme activity. Individuals who are heterozygous for pathogenic variants in GCH1 have symptoms ranging from none (due to reduced penetrance) to dopa-responsive dystonia, which is the most common presentation in symptomatic cases, to rarer neurological presentations such as adult-onset "benign" parkinsonism, various types of focal dystonia, and symptoms simulating cerebral palsy or spastic paraplegia. Hyperphenylalaninemia is absent, and patients respond well to treatment with levodopa. Individuals who are homozygous or compound heterozygous for pathogenic variants in GCH1 typically present with hyperphenylalaninemia, often identified by newborn screening, and severe neurological features and due to very low or undetectable enzyme activity. Treatment with levodopa, BH4, and 5-hydroxytryptophan can improve the symptoms but does not prevent development of severe encephalopathy. Rare cases of GTP cyclohydrolase I deficiency with a phenotype that is intermediate in severity between dopa-responsive dystonia and the severe autosomal recessive form have also been described, supporting the existence a phenotypic spectrum of disease. tmpaxzxjjyw_mondo_relaxed.owl GTP-cyclohydrolase I deficiency|GTP cyclohydrolase I deficiency http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0020659 biolink:NamedThing upper tract urothelial carcinoma tmpaxzxjjyw_mondo_relaxed.owl transitional cell carcinoma of the upper urinary tract|UTUC|transitional cell carcinoma of the pelvis and ureter Orphanet:598216|ONCOTREE:UTUC owl:Class UBERON:0005025 biolink:NamedThing mucosa of uvula tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018464 biolink:NamedThing severe phosphoribosylpyrophosphate synthetase superactivity Severe phosphoribosylpyrophosphate (PRPP) synthetase superactivity is the severe and early-onset form of PRPP synthetase superactivity, an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, that is characterized by urolithiasis, gout and neurodevelopmental anomalies. tmpaxzxjjyw_mondo_relaxed.owl severe PRPS1 superactivity|severe PRPP synthetase superactivity UMLS:CN237444|OMIM:300661|Orphanet:411543|ICD10:E79.8 owl:Class ECTO:9001695 biolink:NamedThing exposure to nutrient An exposure to nutrient. tmpaxzxjjyw_mondo_relaxed.owl exposure to nutrient owl:Class MONDO:0020440 biolink:NamedThing persistent left superior vena cava connecting to the left-sided atrium Persistent left superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains directly to the left atrium, without passing through the coronary sinus (that may be absent in some cases). Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated. tmpaxzxjjyw_mondo_relaxed.owl persistent left superior caval vein connecting to the left-sided atrium|persistent left SVC connecting to the left-sided atrium|left superior caval vein persisting to the left-sided atrium ICD10:Q26.1|Orphanet:99109 owl:Class HP:0012145 biolink:NamedThing Abnormality of multiple cell lineages in the bone marrow tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023024 peter 2012-09-16T08:21:57Z human_phenotype owl:Class MONDO:0001740 biolink:NamedThing cornea squamous cell carcinoma A rare squamous cell carcinoma that arises from the cornea. tmpaxzxjjyw_mondo_relaxed.owl epidermoid carcinoma of the cornea|corneal squamous cell carcinoma|squamous cell carcinoma of cornea|epidermoid carcinoma of cornea|cornea epidermoid carcinoma|cornea squamous cell carcinoma|squamous cell carcinoma of the cornea|corneal epidermoid carcinoma SCTID:255008003|DOID:13538|NCIT:C4552|UMLS:C0346366 owl:Class GO:0099143 biolink:NamedThing presynaptic actin cytoskeleton The actin cytoskeleton that is part of a presynapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008778 biolink:NamedThing amyloidosis, cutaneous bullous tmpaxzxjjyw_mondo_relaxed.owl amyloidosis, cutaneous bullous OMIM:204900|SCTID:38606009|UMLS:C0268399|ICD9:277.39|MESH:C562644 owl:Class MONDO:0018513 biolink:NamedThing squamous cell carcinoma of colon A squamous cell carcinoma that involves the colon. tmpaxzxjjyw_mondo_relaxed.owl colon epidermoid carcinoma|epidermoid carcinoma of colon|colon squamous cell cancer|squamous cell colon carcinoma|colonic epidermoid carcinoma|colon squamous cell carcinoma|squamous cell carcinoma of colon|colonic squamous cell carcinoma|squamous cell carcinoma of the colon|epidermoid carcinoma of the colon ICD10:C18.6|ICD10:C18.5|SCTID:766981007|DOID:5519|ICD10:C18.8|Orphanet:423994|UMLS:C1333100|UMLS:CN237518|ICD10:C18.9|ICD10:C18.4|ICD10:C18.3|ICD10:C18.0|ICD10:C18.2|ICD10:C18.7|NCIT:C5490 owl:Class MONDO:0013193 biolink:NamedThing thyrotoxic periodic paralysis, susceptibility to, 2 Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene. tmpaxzxjjyw_mondo_relaxed.owl thyrotoxic periodic paralysis, susceptibility to, 2|TTPP2|thyrotoxic periodic paralysis, susceptibility to, type 2|KCNJ18 thyrotoxic periodic paralysis|thyrotoxic periodic paralysis caused by mutation in KCNJ18 OMIM:613239|Orphanet:79102 owl:Class MONDO:0019201 biolink:NamedThing thyrotoxic periodic paralysis Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state. tmpaxzxjjyw_mondo_relaxed.owl thyrotoxic hypokalemic periodic paralysis OMIMPS:188580|GARD:0010814|OMIM:614834|Orphanet:79102|MedDRA:10043788|UMLS:C0268446|OMIM:188580|OMIM:613239|ICD10:G72.3|SCTID:30967002 https://rarediseases.info.nih.gov/diseases/10814/thyrotoxic-periodic-paralysis owl:Class MONDO:0015534 biolink:NamedThing juvenile xanthogranuloma A benign histiocytic tumor that occurs during childhood; it is distinct from Langerhans cell histiocytosis. It is characterized by the presence of lipid-laden, foamy histiocytes and Touton-type giant cells in the dermis. The lesions usually develop during infancy. They consist of cutaneous papules and nodules (most often in the head and neck). It is sometimes associated with deep soft tissues nodules. tmpaxzxjjyw_mondo_relaxed.owl Naevoxanthoendothelioma|JXG|juvenile xanthogranuloma|multiple eruptive juvenile xanthogranuloma|xanthoma neviforme ICD10:D76.3|Orphanet:158000|NCIT:C3451|DOID:4424|EFO:1000311|UMLS:C0043324|SCTID:400204000|MESH:D014972 owl:Class UBERON:0014483 biolink:NamedThing distal phalanx of digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:559 biolink:NamedThing AP1S1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021123 biolink:NamedThing Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms. tmpaxzxjjyw_mondo_relaxed.owl bone tissue Ewing sarcoma/peripheral primitive neuroectodermal tumor|Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone|Ewing's sarcoma/peripheral primitive neuroectodermal tumor of bone UMLS:C1333481|NCIT:C35871 owl:Class MONDO:0013127 biolink:NamedThing asphyxiating thoracic dystrophy 3 An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. tmpaxzxjjyw_mondo_relaxed.owl polydactyly with neonatal chondrodystrophy, type III|short rib-polydactyly syndrome Saldino-Noonan type|Verma-Naumoff syndrome|Saldino-Noonan syndrome|short-rib thoracic dysplasia 3 with or without polydactyly|SRPS type 1|short rib-polydactyly syndrome, type IIB|SRPS1|SRPS3|short rib-polydactyly syndrome type 1|short rib-polydactyly syndrome, type 2B|polydactyly with neonatal chondrodystrophy type 1|short rib-polydactyly syndrome, type 1|SRPS2B|polydactyly with neonatal chondrodystrophy, type I|type I short rib polydactyly syndrome|ATD3|short rib-polydactyly syndrome, type I|polydactyly with neonatal chondrodystrophy, type 1|SRTD3|asphyxiating thoracic dystrophy 3|short rib-polydactyly syndrome, type 3|polydactyly with neonatal chondrodystrophy, type 3|short rib-polydactyly syndrome, Saldino-Noonan type|asphyxiating thoracic dystrophy type 3 SCTID:27330009|Orphanet:474|GARD:0004834|ICD10:Q77.2|DOID:0110087|NCIT:C163755|OMIM:613091|DOID:0050549|Orphanet:93270 owl:Class MONDO:0005232 biolink:NamedThing large cell carcinoma A malignant epithelial neoplasm composed of large, atypical cells. tmpaxzxjjyw_mondo_relaxed.owl carcinoma, large cell|large cell carcinoma MESH:D018287|NCIT:C3780|UMLS:C0206704|DOID:4552|ICDO:8012/3 owl:Class MONDO:0060724 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 17 tmpaxzxjjyw_mondo_relaxed.owl glycosylphosphatidylinositol biosynthesis defect 17|GPIBD17 OMIM:618010|UMLS:CN248527 owl:Class MONDO:0024321 biolink:NamedThing disorder of GPI anchor biosynthesis A disease that has its basis in the disruption of GPI anchor biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl GPI anchor biosynthetic process disease|disorder of GPI anchor biosynthetic process|glycosylphosphatidylinositol biosynthesis defect|GPIBD May be inborn or somatic owl:Class MONDO:0010780 biolink:NamedThing mitochondrial myopathy with reversible cytochrome C oxidase deficiency tmpaxzxjjyw_mondo_relaxed.owl Cox deficiency myopathy, infantile, transient|infantile reversible cytochrome C oxidase deficiency myopathy|reversible infantile cytochrome C oxidase deficiency|mitochondrial myopathy with reversible complex IV deficiency|respiratory chain deficiency, infantile, transient|reversible infantile respiratory chain deficiency|MMIT|benign COX deficiency|mitochondrial myopathy, infantile, transient|mitochondrial myopathy, infantile, transient, due to respiratory chain deficiency|mitochondrial myopathy with reversible COX deficiency ICD10:G71.3|Orphanet:254864|OMIM:500009|UMLS:C3151898 owl:Class MONDO:0006673 biolink:NamedThing pituitary gland basophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with basic dyes. tmpaxzxjjyw_mondo_relaxed.owl pituitary basophilic adenoma|pituitary gland basophilic adenoma|basophil adenoma|mucoid cell adenoma|basophilic pituitary gland adenoma|basophilic adenoma DOID:4542|MESH:D000237|ICDO:8300/0|NCIT:C2856|EFO:1000834|UMLS:C0001431 owl:Class MONDO:0011561 biolink:NamedThing Alzheimer disease 6 An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer's disease type 6|Alzheimer's disease 6|AD6|Alzheimer disease 6, late onset|Alzheimer disease 6, late-onset|Alzheimer disease 6|plasma Beta-amyloid-42 level quantitative trait locus|Alzheimer disease type 6 ICD10:G30|DOID:0110038|MESH:C565325|OMIM:605526 owl:Class GO:0050909 biolink:NamedThing sensory perception of taste The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process. tmpaxzxjjyw_mondo_relaxed.owl gustation|sense of taste|taste|taste perception owl:Class MONDO:0019917 biolink:NamedThing maternal uniparental disomy of chromosome 20 Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy. tmpaxzxjjyw_mondo_relaxed.owl maternal UPD(20)|MULCHANDANI-BHOJ-CONLIN syndrome|uniparental disomy, maternal, chromosome 20|MBCS|UPD(20)mat|maternal uniparental disomy of chromosome type 20 OMIM:617352|DOID:0111714|SCTID:715735007|ICD10:Q99.8|Orphanet:96186 owl:Class CHEBI:60056 biolink:NamedThing cocaine(1+) The conjugate base of cocaine arising from protonation of the tertiary amino group; major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl cocaine|(1R,2R,3S,5S)-3-(benzoyloxy)-2-(methoxycarbonyl)-8-methyl-8-azoniabicyclo[3.2.1]octane|cocaine cation owl:Class MONDO:0011462 biolink:NamedThing pyogenic arthritis-pyoderma gangrenosum-acne syndrome A rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin. tmpaxzxjjyw_mondo_relaxed.owl Papas|pyogenic arthritis, pyoderma gangrenosum and acne|pyogenic STERILE arthritis, pyoderma gangrenosum, and acne|papa syndrome|pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne|papa|fra|familial recurrent arthritis UMLS:C1858361|GARD:0009176|MESH:C536253|SCTID:724015007|Orphanet:69126|DOID:0080519|OMIM:604416|NCIT:C119055 owl:Class GO:0004509 biolink:NamedThing steroid 21-monooxygenase activity Catalysis of the reaction: A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O(2) = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H(2)O. tmpaxzxjjyw_mondo_relaxed.owl cytochrome P450 CYP21A1|cytochrome p450 XXIA1 activity|steroid 21-hydroxylase activity|steroid,hydrogen-donor:oxygen oxidoreductase (21-hydroxylating)|21-hydroxylase activity owl:Class GO:0016705 biolink:NamedThing oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from each of two donors, and molecular oxygen is reduced or incorporated into a donor. tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, miscellaneous owl:Class UBERON:0010338 biolink:NamedThing 1st arch maxillary mesenchyme from head mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:20473 biolink:NamedThing BRIP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014416 biolink:NamedThing ACTH-independent macronodular adrenal hyperplasia 2 Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene. tmpaxzxjjyw_mondo_relaxed.owl ACTH-independent macronodular adrenal hyperplasia 2|Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5|ACTH-independent macronodular adrenal hyperplasia type 2|ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia|AIMAH2|primary macronodular adrenal hyperplasia OMIM:615954|UMLS:C4014803|DOID:0111624|Orphanet:189427 owl:Class UBERON:0004991 biolink:NamedThing mucosa of transverse colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008858 biolink:NamedThing Behr syndrome Behr syndrome is a disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient. tmpaxzxjjyw_mondo_relaxed.owl Behr syndrome|BEHRS|optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss|optic atrophy, infantile hereditary, with neurologic abnormalities|optic atrophy, infantile hereditary, Behr complicated form of|optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss MESH:C537669|GARD:0000849|UMLS:C0221061|ICD10:H35.5|Orphanet:1239|OMIM:210000|DOID:0111580|SCTID:718221007 Editor note: note ORDO obsoleting Behr disease and replaced by the more generic SHON but we retain for gene-speicific form https://rarediseases.info.nih.gov/diseases/849/behr-syndrome owl:Class HP:0012575 biolink:NamedThing Abnormal nephron morphology A structural anomaly of the nephron. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the nephron UMLS:C4022838 peter 2014-01-16T12:49:04Z human_phenotype owl:Class MONDO:0011487 biolink:NamedThing Huntington disease-like 3 Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. tmpaxzxjjyw_mondo_relaxed.owl Huntington disease-like neurodegenerative disorder, autosomal recessive|HDL3|Huntington disease-like 3|Huntington disease-like type 3 MESH:C565747|Orphanet:157946|UMLS:C1858114|OMIM:604802|ICD10:G10 owl:Class HGNC:20373 biolink:NamedThing SPG21 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011880 biolink:NamedThing candidiasis, familial, 3 tmpaxzxjjyw_mondo_relaxed.owl candidiasis, familial, 3|candidiasis, familial chronic nail, with Icam1 deficiency|Fcnc|CANDF3 OMIM:607644|UMLS:C1843306|MESH:C564361 owl:Class HP:0010525 biolink:NamedThing Finger agnosia An inability or difficulty differentiating among the fingers of either hand as well as the hands of others. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:3449007|UMLS:C0234509|MSH:D000377 peter 2009-09-20T11:37:33Z human_phenotype owl:Class UBERON:0035159 biolink:NamedThing entire surface of organism tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006984 biolink:NamedThing anatomical surface tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014792 biolink:NamedThing Paget disease of bone 6 tmpaxzxjjyw_mondo_relaxed.owl Paget disease of bone 6|Paget disease of bone 6; PDB6|Paget disease of bone type 6|PDB6 OMIM:616833|UMLS:C4085250 owl:Class UBERON:0003215 biolink:NamedThing alveolus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6263 biolink:NamedThing KCNJ2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004345 biolink:NamedThing trophectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:4000003 biolink:NamedThing exposure to decreased salt A exposure event involving the interaction of an exposure receptor to decreased amount of salt. tmpaxzxjjyw_mondo_relaxed.owl exposure to decreased amount in salt owl:Class MONDO:0011255 biolink:NamedThing mandibulofacial dysostosis-macroblepharon-macrostomia syndrome tmpaxzxjjyw_mondo_relaxed.owl macroblepharon, ectropion, hypertelorism, and macrostomia|macroblepharon-ectropion-hypertelorism-macrostomia syndrome|Verloes-Lesenfants syndrome|mandibulofacial dysostosis with macroblepharon and macrostomia OMIM:602562|Orphanet:357158|ICD10:Q87.0|UMLS:C1865181|MESH:C566520 owl:Class MONDO:0017111 biolink:NamedThing isolated Dandy-Walker malformation without hydrocephalus tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q03.1|Orphanet:269215 owl:Class GO:0043085 biolink:NamedThing positive regulation of catalytic activity Any process that activates or increases the activity of an enzyme. tmpaxzxjjyw_mondo_relaxed.owl stimulation of enzyme activity|up-regulation of enzyme activity|activation of enzyme activity|positive regulation of metalloenzyme activity|upregulation of metalloenzyme activity|up-regulation of metalloenzyme activity|upregulation of enzyme activity|activation of metalloenzyme activity|up regulation of metalloenzyme activity|up regulation of enzyme activity|stimulation of metalloenzyme activity|positive regulation of enzyme activity owl:Class MONDO:0013271 biolink:NamedThing frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome tmpaxzxjjyw_mondo_relaxed.owl FND3|frontonasal dysplasia 3|ALX1-related frontonasal dysplasia|frontonasal dysplasia type 3 UMLS:C3150706|GARD:0012640|OMIM:613456|Orphanet:306542 https://rarediseases.info.nih.gov/diseases/12640/frontonasal-dysplasia-severe-microphthalmia-severe-facial-clefting-syndrome owl:Class HGNC:16268 biolink:NamedThing PNPLA6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004641 biolink:NamedThing spleen capsule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006513 biolink:NamedThing estrogen-receptor negative breast cancer A subtype of breast cancer that is estrogen-receptor negative tmpaxzxjjyw_mondo_relaxed.owl ER- breast cancer EFO:1000650|DOID:0060076 owl:Class CL:0010011 biolink:NamedThing cerebral cortex GABAergic interneuron A GABAergic interneuron whose soma is located in the cerebral cortex. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021156 biolink:NamedThing hypophysitis Inflammation of the pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl hypophysis cerebri|hypophysis|hypophysitides|gland, pituitary|pituitary gland inflammation|pituitary gland|pituitary|nervous system, pituitary|inflammation of pituitary gland UMLS:C0342409|MESH:D000072659|SCTID:237705001|NCIT:C12399 Editor note: TODO - add all subtypes; Granulomatous hypophysitis is one of five types of inflammatory hypophysitis, which are (lymphocytic, granulomatous, xanthomatous, xanthogranulomatous, and necrotizing) https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494403/ owl:Class MONDO:0007107 biolink:NamedThing anal sphincter myopathy, internal tmpaxzxjjyw_mondo_relaxed.owl anal sphincter myopathy, internal|proctalgia fugax due to anal sphincter myopathy UMLS:C1862935|OMIM:105565|MESH:C566287 owl:Class MONDO:0000483 biolink:NamedThing oculogyric crisis A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050842 owl:Class HGNC:303 biolink:NamedThing AEBP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003365 biolink:NamedThing epithelium of left lung tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008195 biolink:NamedThing paramyotonia congenita of Von Eulenburg Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3). tmpaxzxjjyw_mondo_relaxed.owl paralysis periodica Paramyotonica|paramyotonia congenita|myotonia congenita intermittens|PMC|Von Eulenburg paramyotonia congenita|paramyotonia congenita of Von Eulenburg|paramyotonia congenita without cold paralysis|Eulenburg disease|paramyotonia congenita of VON Eulenburg GARD:0007325|ICD10:G71.1|SCTID:41574007|DOID:0111538|OMIM:168300|NCIT:C122790|Orphanet:684|ICD9:359.29 owl:Class GO:0043230 biolink:NamedThing extracellular organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007990 biolink:NamedThing multiple benign circumferential skin creases on limbs tmpaxzxjjyw_mondo_relaxed.owl skin creases, multiple benign ring-shaped, of limbs|Kunze-Riehm syndrome|congenital circumferential skin folds|Kunze Riehm syndrome|Michelin tire baby syndrome|CSCSC|circumferential skin creases, Kunze type|CCSF ICD10:Q82.8|OMIM:616734|MESH:C537575|Orphanet:2505|OMIM:156610|GARD:0003589|UMLS:C0473586 owl:Class PO:0025395 biolink:NamedThing floral organ A plant organ (PO:0009008) that is part of a flower (PO:0009046). tmpaxzxjjyw_mondo_relaxed.owl flower organ (exact)|órgano floral (Spanish, exact)|花器官 (Japanese, exact) PO_GIT:423 Includes phyllomes such as anthers and petals, as well as shoot axes such as androphores and gynophores. rwalls 2012-01-19T11:44:36Z plant_anatomy owl:Class PO:0009008 biolink:NamedThing plant organ A multi-tissue plant structure (PO:0025496) that is a functional unit, is a proper part of a whole plant (PO:0000003), and includes portions of plant tissue (PO:0009007) of at least two different types that derive from a common developmental path. tmpaxzxjjyw_mondo_relaxed.owl organ (broad)|compound plant organ (related)|simple plant organ (related)|植物 器官 (Japanese, exact)|órgano vegetal (Spanish, exact) PO_GIT:55 Examples include stem (PO:0009047), leaf (PO:0025034), and root (PO:0009005). May include individual plant cells (PO:0009002) that are not part of a portion of plant tissue (e.g., idioblasts, PO:0000283). A plant organ may have one or more different plant organs as parts, such as a sporophyll (PO:0009026) that may have as part a sporangium (PO:0025094) or a carpel (PO:0009030) that may have as part a plant ovule (PO:0020003). plant_anatomy owl:Class MONDO:0005481 biolink:NamedThing contact dermatitis due to nickel A form of allergic contact dermatitis that results from exposure to nickel tmpaxzxjjyw_mondo_relaxed.owl EFO:0005320|SCTID:93419003|UMLS:C0684345 owl:Class MONDO:0005480 biolink:NamedThing contact dermatitis An inflammatory skin condition caused by direct contact between the skin and either an irritating substance or an allergen. tmpaxzxjjyw_mondo_relaxed.owl contact eczema|dermatitis venenata|contact dermatitis/eczema|contact dermatitis|dermatitis, venenata ICD9:692.9|ICD10:L25.9|ICD9:692.89|ICD10:L25|UMLS:C0011616|MESH:D003877|SCTID:40275004|DOID:2773|EFO:0005319|NCIT:C26743 owl:Class MONDO:0010019 biolink:NamedThing secretory component deficiency tmpaxzxjjyw_mondo_relaxed.owl IgA deficiency, secretory|secretory component deficiency OMIM:269650|SCTID:234554004|UMLS:C0398709|MESH:C562869|ICD9:279.03 owl:Class MONDO:0044903 biolink:NamedThing myelofibrosis A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003 tmpaxzxjjyw_mondo_relaxed.owl myelofibrosis NCIT:C3248 owl:Class MONDO:0007439 biolink:NamedThing deoxyribose-5-phosphate aldolase deficiency tmpaxzxjjyw_mondo_relaxed.owl deoxyribose-5-phosphate aldolase deficiency MESH:C565112|OMIM:125460|UMLS:C1852200 owl:Class ENVO:01000435 biolink:NamedThing montane forest tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044331 biolink:NamedThing genetic transient congenital hypothyroidism An instance of transient congenital hypothyroidism that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary transient congenital hypothyroidism Orphanet:226316|ICD10:P72.2 owl:Class MONDO:0016556 biolink:NamedThing transient congenital hypothyroidism due to neonatal factor tmpaxzxjjyw_mondo_relaxed.owl Orphanet:238699|ICD10:P72.2 owl:Class NBO:0000355 biolink:NamedThing posture "Intentionally or habitually assumed arrangement of the body and its limbs." [NBO:GVG] tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003676 biolink:NamedThing inferolateral myocardial infarct An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the inferolateral wall of the heart. tmpaxzxjjyw_mondo_relaxed.owl DOID:5852|NCIT:C35673 owl:Class MONDO:0001846 biolink:NamedThing uterine corpus bizarre leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei. tmpaxzxjjyw_mondo_relaxed.owl uterine corpus bizarre leiomyoma|bizarre leiomyoma of body of uterus|uterine corpus Symplastic leiomyoma|uterine corpus leiomyoma, atypical variant|body of uterus bizarre leiomyoma|uterine corpus leiomyoma with bizarre nuclei DOID:13958|UMLS:C1519853|NCIT:C40167 owl:Class MONDO:0003531 biolink:NamedThing papillary eccrine carcinoma tmpaxzxjjyw_mondo_relaxed.owl tubular apocrine adenoma|eccrine papillary adenocarcinoma|digital papillary adenocarcinoma|papillary eccrine adenoma|papillary eccrine carcinoma|papillary apocrine fibroadenoma DOID:5591|NCIT:C27254|SCTID:254709009|UMLS:C1367774 owl:Class CL:0000040 biolink:NamedThing monoblast A myeloid progenitor cell committed to the monocyte lineage. This cell is CD11b-positive, has basophilic cytoplasm, euchromatin, and the presence of a nucleolus. tmpaxzxjjyw_mondo_relaxed.owl CFU-M|colony forming unit monocyte|monocyte stem cell|colony forming unit macrophage CALOHA:TS-1195|FMA:83553 Morphology: mononuclear cell, diameter 12-20 _M, non-granular, N/C ratio 3/1 - 4/1; markers: CD11b (shared with many other myeloid cells); location: Adult: bone marrow; fetal: liver, Yolk Sac; role or process: hematopoiesis, monocyte development; lineage: hematopoietic, myeloid. cell owl:Class MONDO:0012495 biolink:NamedThing spondyloepimetaphyseal dysplasia, Genevieve type Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips. tmpaxzxjjyw_mondo_relaxed.owl Nans deficiency|spondyloepimetaphyseal dysplasia, Genevieve type|SEMD, Genevieve type|spondyloepimetaphyseal dysplasia Genevieve type|spondyloepimetaphyseal dysplasia, Geneviève type|SEMD, Geneviève type|SEMDG|SEMD Genevieve type ICD10:Q77.7|OMIM:610442|UMLS:C1864872|MESH:C535785|DOID:0080576|GARD:0010057|Orphanet:168454 owl:Class MONDO:0013085 biolink:NamedThing neuroblastoma, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl NBLST5|neuroblastoma, susceptibility to, 5 OMIM:613016|Orphanet:635 owl:Class GO:1901534 biolink:NamedThing positive regulation of hematopoietic progenitor cell differentiation Any process that activates or increases the frequency, rate or extent of hematopoietic progenitor cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl activation of haemopoietic progenitor cell differentiation|up-regulation of hematopoietic progenitor cell differentiation|positive regulation of haemopoietic progenitor cell differentiation|upregulation of haematopoietic progenitor cell differentiation|up-regulation of haematopoietic progenitor cell differentiation|upregulation of hematopoietic progenitor cell differentiation|upregulation of haemopoietic progenitor cell differentiation|up regulation of hematopoietic progenitor cell differentiation|up regulation of hemopoietic progenitor cell differentiation|up-regulation of hemopoietic progenitor cell differentiation|activation of hematopoietic progenitor cell differentiation|up regulation of haematopoietic progenitor cell differentiation|activation of haematopoietic progenitor cell differentiation|activation of hemopoietic progenitor cell differentiation|upregulation of hemopoietic progenitor cell differentiation|up-regulation of haemopoietic progenitor cell differentiation|positive regulation of haematopoietic progenitor cell differentiation|up regulation of haemopoietic progenitor cell differentiation|positive regulation of hemopoietic progenitor cell differentiation owl:Class MONDO:0006466 biolink:NamedThing thyroid gland spindle cell tumor with thymus-like differentiation A rare, slow growing, primary carcinoma of the thyroid gland characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. A small number of cases are composed exclusively of spindle epithelial cells or glandular cells. tmpaxzxjjyw_mondo_relaxed.owl spindle epithelial tumor with thymus-like differentiation tumor|settle tumor|settle UMLS:C1266099|DOID:0050923|EFO:1000593|ICDO:8588/3|NCIT:C46105 owl:Class NCBITaxon:2072716 biolink:NamedThing Spiruromorpha tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018132 biolink:NamedThing congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies (MDDGA) is a cobblestone lissencephaly characterized by and considered to be pathognomonic of a continuum of recessive autosomal disorders with brain, ocular and muscular involvement. MDDGA includes Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama muscular and cerebral dystrophy and muscle eye brain disease with bilateral multicystic leukodystrophy. tmpaxzxjjyw_mondo_relaxed.owl lissencephaly type 2 with muscular and ocular involvement|MDDGA 2022-03-01 Orphanet:352687|DOID:0111229|GARD:0012588 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: muscular dystrophy-dystroglycanopathy' MONDO_0018276 https://rarediseases.info.nih.gov/diseases/12588/congenital-muscular-alpha-dystroglycanopathy-with-brain-and-eye-anomalies owl:Class MONDO:0033662 biolink:NamedThing neurodevelopmental disorder with microcephaly, seizures, and brain atrophy tmpaxzxjjyw_mondo_relaxed.owl NEDMISB OMIM:619076 owl:Class MONDO:0020357 biolink:NamedThing coloboma of eyelid A congenital abnormality in which a part of the upper or lower eyelid tissue is missing. tmpaxzxjjyw_mondo_relaxed.owl coloboma of the eyelid SCTID:95202004|ICD10:Q10.3|Orphanet:98946|UMLS:C0521573|NCIT:C98878 owl:Class MONDO:0004414 biolink:NamedThing tamoxifen-related endometrial lesion A spectrum of endometrial abnormalities that occur in women who use tamoxifen to treat or prevent the development of breast cancer. These abnormalities include endometrial polyps, endometrial hyperplasia, and endometrial carcinoma. tmpaxzxjjyw_mondo_relaxed.owl tamoxifen-related endometrial disorder DOID:7962|NCIT:C40159|UMLS:C1515212 owl:Class MONDO:0016746 biolink:NamedThing meningeal melanocytoma A usually well differentiated melanocytic neoplasm arising from the meninges. It is characterized by the presence of epithelioid, fusiform, polyhedral, and spindle melanocytes without evidence of hemorrhage, necrosis, or high mitotic activity. Presenting symptoms include headache, vomiting, and neurological manifestations. Complete excision is usually curative. tmpaxzxjjyw_mondo_relaxed.owl meninges melanocytoma|melanocytoma of the meninges|leptomeningeal melanocytoma|melanocytoma of meninges EFO:1000370|DOID:5900|UMLS:C1266113|Orphanet:252046|SCTID:277527003|ICDO:8728/1|NCIT:C4662 owl:Class HGNC:7728 biolink:NamedThing NEDD4L tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020657 biolink:NamedThing human papillomavirus-related squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl human papilloma virus related squamous cell carcinoma|human papillomavirus-related squamous cell carcinoma|HPV-related squamous cell carcinoma|human papilloma virus-related squamous cell carcinoma NCIT:C27683 owl:Class HP:0031047 biolink:NamedThing Paraproteinemia An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. tmpaxzxjjyw_mondo_relaxed.owl Monoclonal hypergammaglobulinemia 2017-05-27 14:25:46+00:00 A paraprotein is a monoclonal immunoglobulin or light chain present in the blood or urine; it is produced by a clonal population of mature B cells, most commonly plasma cells. Plasma cell disorders can be considered as a spectrum of conditions ranging from monoclonal gammopathy of undetermined significance (MGUS), through asymptomatic, to symptomatic myeloma. The frequency of paraprotein-associated heavy chains is IgG, IgA, IgM, IgD (in that order). Light chains may be kappa or lambda. Paraproteins are associated with both malignant and nonmalignant conditions and may lead to complications including neuropathy and nephropathy. peter human_phenotype owl:Class MONDO:0015627 biolink:NamedThing multiple epiphyseal dysplasia due to collagen 9 anomaly Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported. tmpaxzxjjyw_mondo_relaxed.owl DOID:0070305|OMIM:600969|Orphanet:166002|OMIM:614135|OMIM:600204|ICD10:Q77.3|SCTID:766717008 owl:Class MONDO:0020689 biolink:NamedThing AIDS dementia complex A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40) tmpaxzxjjyw_mondo_relaxed.owl Acquired-Immune Deficiency Syndrome Dementia Complex|HIV-Associated Cognitive Motor Complex|Acquired immune deficiency syndrome dementia complex|Encephalopathies, HIV|HIV encephalitis|AIDS-related Dementia Complex|AIDS dementia|HIV Dementia|Dementias, HIV|HIV-1 Cognitive and Motor Complex|AIDS related cognitive impairment|HIV Dementias|AIDS related Dementia Complex|acquired immune deficiency syndrome dementia complex|HIV 1 Associated Cognitive Motor Complex|HIV ASSOC COGNITIVE MOTOR COMPLEX|Complex, AIDS Dementia|ADC - Acquired immune deficiency syndrome dementia complex|Acquired immune deficiency syndrome-related dementia|AIDS Dementia|DEMENTIA COMPLEX ACQUIRED IMMUNE DEFIC SYNDROME|DEMENTIA COMPLEX AIDS RELAT|Dementia associated with AIDS|Encephalopathies, AIDS|HIV Associated Cognitive Motor Complex|AIDS dementia complex|Dementia Complex, AIDS related|Dementia Complex, AIDS|Encephalopathy, HIV|AIDS Encephalopathy|Dementia Complex, Acquired Immune Deficiency Syndrome|Dementia Complex, AIDS-related|HIV Encephalopathy|Dementia, HIV|HIV-associated dementia|HIV 1 Cognitive and Motor Complex|Complex, AIDS-related Dementia|acquired immune deficiency syndrome-related dementia|Encephalopathy, AIDS|AIDS - Acquired immune deficiency syndrome dementia complex|AIDS RELAT DEMENTIA COMPLEX|HIV Encephalopathies|AIDS Encephalopathies|AIDS with dementia (disorder)|HIV-1-Associated Cognitive Motor Complex|ADC|HIV associated cognitive and motor complex|AIDS Dementia Complex|Dementia associated with acquired immunodeficiency syndrome SCTID:421529006|UMLS:C0001849|NCIT:C2864|ICD9:294.8|GARD:0008250|MESH:D015526|EFO:0002608 owl:Class MONDO:0002396 biolink:NamedThing nephrogenic adenofibroma A benign, solitary, and partially cystic neoplasm arising from the kidney. It occurs in children and adults. Presenting symptoms include hematuria and polycythemia. It is characterized by the presence of epithelial nodules embedded in a stroma containing spindle cells. tmpaxzxjjyw_mondo_relaxed.owl metanephric adenofibroma DOID:2698|ICDO:8965/0|NCIT:C39812|UMLS:C1266141 owl:Class CL:1000458 biolink:NamedThing melanocyte of skin A melanocyte that is part of the skin of body. tmpaxzxjjyw_mondo_relaxed.owl skin melanocyte CALOHA:TS-2374|FMA:72144 cell owl:Class MONDO:0007248 biolink:NamedThing hereditary painful callosities Hereditary painful callosities is a nummular palmoplantar keratoderma characterized by the development of painful keratotic lesions over pressure points in hands and feet. A few families have been described. Transmission is autosomal dominant. Successful analgesia can be obtained with tretinoin. tmpaxzxjjyw_mondo_relaxed.owl callosities, hereditary painful|callosities, painful plantar|keratosis palmoplantaris nummularis|PPK nummularis|Plamoplantar keratoderma nummularis|Plamoplantar hyperkeratosis nummularis OMIM:114140|Orphanet:79141|MESH:C566180|ICD10:Q82.8|UMLS:C1861964 owl:Class MONDO:0010242 biolink:NamedThing fetal akinesia syndrome, X-linked tmpaxzxjjyw_mondo_relaxed.owl fetal akinesia syndrome X-linked|polyhydramnios, hypokinesia, brain malformations, telecanthus, and narrow palpebral fissures|X-linked form of fetal akinesia syndrome|fetal akinesia syndrome, X-linked UMLS:C1848171|OMIM:300073|Orphanet:994|MESH:C537921|GARD:0002293 https://rarediseases.info.nih.gov/diseases/2293/fetal-akinesia-syndrome-x-linked owl:Class MONDO:0018063 biolink:NamedThing nodular non-suppurative panniculitis Nodular non-suppurative panniculitis, known as Weber-Christian disease (WCD), is a rare skin disorder characterized by recurring inflammation in the subcutaneous layer of fat. tmpaxzxjjyw_mondo_relaxed.owl idiopathic lobular panniculitis|Weber - Christian disease|WCD|idiopathic nodular panniculitis|nodular nonsuppurative panniculitis|Relapsing febrile nodular nonsuppurative panniculitis|Pfeiffer-Weber-Christian syndrome|Weber-Christian panniculitis|nodular non-suppurative febrile panniculitis|panniculitis nodular nonsuppurative|Relapsing febrile nodular panniculitis|Weber-Christian disease|Weber Christian disease GARD:0007879|MedDRA:10047883|UMLS:C0030328|SCTID:33760009|ICD10:M35.6|EFO:1000742|MESH:D010201|DOID:1525|Orphanet:33577 owl:Class MONDO:0002938 biolink:NamedThing metatypical basal cell carcinoma A skin carcinoma displaying cytological characteristics intermediate to nodular basal cell carcinoma and squamous cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl basosquamous carcinoma of skin|skin metatypical basal cell carcinoma|skin metatypical carcinoma ICDO:8095/3|DOID:4281|NCIT:C66903|SCTID:254702000 owl:Class GO:0090305 biolink:NamedThing nucleic acid phosphodiester bond hydrolysis The nucleic acid metabolic process in which the phosphodiester bonds between nucleotides are cleaved by hydrolysis. tmpaxzxjjyw_mondo_relaxed.owl nucleic acid cleavage owl:Class MONDO:0002068 biolink:NamedThing female breast lower-inner quadrant cancer tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of lower-inner quadrant of female breast UMLS:C0153551|ICD9:174.3|ICD10:C50.3|DOID:1649|ICD10:C50.31|SCTID:188153009 owl:Class MONDO:0011765 biolink:NamedThing multiple epiphyseal dysplasia type 5 Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission. tmpaxzxjjyw_mondo_relaxed.owl Polyepiphyseal dysplasia type 5|multiple epiphyseal dysplasia 5|epiphyseal dysplasia, multiple, type 5|BHMED|MED5|multiple epiphyseal dysplasia, MATN3 related|epiphyseal dysplasia multiple 5|bilateral hereditary micro-epiphyseal dysplasia|multiple epiphyseal dysplasia (disease) caused by mutation in MATN3|epiphyseal dysplasia, multiple, 5|MATN3 multiple epiphyseal dysplasia (disease)|EDM5|multiple epiphyseal dysplasia, MATN3-related|Microepiphyseal dysplasia, bilateral hereditary GARD:0009794|UMLS:C4275060|SCTID:715674008|OMIM:607078|UMLS:C1846843|ICD10:Q77.3|MESH:C535505|DOID:0070299|Orphanet:93311 owl:Class MONDO:0019975 biolink:NamedThing pellagra Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management. tmpaxzxjjyw_mondo_relaxed.owl pellagra|niacin deficiency|niacin-tryptophan deficiency ICD9:265.2|UMLS:C0030783|SCTID:418279001|ICD10:E52|Orphanet:97352|UMLS:C4317126|EFO:0008570|GARD:0010014|MESH:D010383|MedDRA:10029400|DOID:8457 https://rarediseases.info.nih.gov/diseases/10014/pellagra owl:Class HGNC:6086 biolink:NamedThing INSL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:62732 biolink:NamedThing aromatic ester An ester where the ester linkage is bonded directly to an aromatic system. tmpaxzxjjyw_mondo_relaxed.owl aromatic esters owl:Class MONDO:0012844 biolink:NamedThing primary ciliary dyskinesia 8 A primary ciliary dyskinesia that has material basis in variation in the chromosome region 15q24-q25. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia 8 with or without situs inversus|primary ciliary dyskinesia type 8|ciliary dyskinesia, primary, 8, with or without situs inversus|CILD8|ciliary dyskinesia, primary, 8 OMIM:612274|MESH:C567373|UMLS:C2677085|Orphanet:244|DOID:0110616|ICD10:Q34.8 owl:Class GO:0042304 biolink:NamedThing regulation of fatty acid biosynthetic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. tmpaxzxjjyw_mondo_relaxed.owl regulation of fatty acid formation|regulation of fatty acid biosynthesis|regulation of fatty acid anabolism|regulation of fatty acid synthesis owl:Class UBERON:0004691 biolink:NamedThing bulbourethral gland secretion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011028 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2F Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 2F|limb-girdle muscular dystrophy type 2F|muscular dystrophy limb-girdle with delta-sarcoglyan deficiency|LGMD2F|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD|delta-sarcoglycanopathy|SGCD autosomal recessive limb-girdle muscular dystrophy|limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency SCTID:718177001|GARD:0008573|ICD10:G71.0|MESH:C535896|OMIM:601287|Orphanet:219|DOID:0110280 https://rarediseases.info.nih.gov/diseases/8573/limb-girdle-muscular-dystrophy-type-2f owl:Class UBERON:0012070 biolink:NamedThing palatal tooth tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000489 biolink:NamedThing cavitated compound organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015181 biolink:NamedThing neck of tooth tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021271 biolink:NamedThing villous adenoma of colon A villous adenoma that involves the colon. tmpaxzxjjyw_mondo_relaxed.owl villous adenoma of the colon|colonic villous adenoma|colon villous adenoma UMLS:C0149862|SCTID:309084001|NCIT:C3495 owl:Class MONDO:0010502 biolink:NamedThing intellectual disability, X-linked 99, syndromic, female-restricted Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene. tmpaxzxjjyw_mondo_relaxed.owl X-linked syndromic intellectual disability caused by mutation in USP9X|USP9X X-linked syndromic intellectual disability|mental retardation, X-linked 99, syndromic, female-restricted|intellectual disability, X-linked 99, syndromic, female-restricted|MRXS99F OMIM:300968 owl:Class MONDO:0030307 biolink:NamedThing spermatogenic failure 55 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 55|SPGF55 OMIM:619380 owl:Class MONDO:0004844 biolink:NamedThing oral mucosa leukoplakia A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition. tmpaxzxjjyw_mondo_relaxed.owl leukoplakia of the oral mucosa|oral keratosis|oral keratoses|leukoplakia of oral mucosa|leukokeratosis of oral mucosa|oral leukoplakia ICD9:528.6|ICD10:K13.21|SCTID:414603003|UMLS:C0023532|DOID:9655|NCIT:C3187|MESH:D007972|ICD10:K13.2|GARD:0007260 owl:Class MONDO:0004705 biolink:NamedThing liver solitary fibrous tumor A solitary fibrous tumor that arises from the liver. It affects females more frequently than males. Signs and symptoms include the presence of an abdominal mass and abdominal discomfort. tmpaxzxjjyw_mondo_relaxed.owl liver localized fibrous tumor|fibroma of liver|fibroma of the liver|liver fibroma|hepatic fibroma|liver localized fibrous mesothelioma|liver solitary fibrous tumor NCIT:C5752|UMLS:C1333965|DOID:907 owl:Class MONDO:0017752 biolink:NamedThing defect in V-ATPase tmpaxzxjjyw_mondo_relaxed.owl ICD10:E77.8|Orphanet:309778 owl:Class MONDO:0017916 biolink:NamedThing pure or complex X-linked spastic paraplegia tmpaxzxjjyw_mondo_relaxed.owl Pure or complicated X-linked spastic paraplegia ICD10:G11.4|Orphanet:320350 owl:Class UBERON:0004444 biolink:NamedThing proximal epiphysis of distal phalanx of manual digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054573 biolink:NamedThing Lopes-Maciel-Rodan syndrome tmpaxzxjjyw_mondo_relaxed.owl LOMARS|Lopes-Maciel-Rodan syndrome OMIM:617435|UMLS:C4479491 owl:Class MONDO:0012625 biolink:NamedThing retinitis pigmentosa 37 Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene. tmpaxzxjjyw_mondo_relaxed.owl RP37|retinitis pigmentosa caused by mutation in NR2E3|retinitis pigmentosa type 37|NR2E3 retinitis pigmentosa|retinitis pigmentosa 37 DOID:0110399|UMLS:C1970163|MESH:C567005|ICD10:H35.5|Orphanet:791|OMIM:611131 owl:Class MONDO:0019156 biolink:NamedThing angioosteohypotrophic syndrome Angioosteohypotrophic syndrome is a rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia. Affected limb is generally shortened, highly deformed, painful and edematous and associates bone and muscle hypotrophy. Single parts, or multiple small parts, of limbs are typically affected but more extensive involvement, including complete extremity, shoulder girdle and axilla, has been reported. tmpaxzxjjyw_mondo_relaxed.owl Phlebectatic osteohypoplastic angiodysplasia|Servelle-Martorell syndrome UMLS:CN205707|Orphanet:75508|SCTID:765750001 owl:Class MONDO:0030314 biolink:NamedThing inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl IBD31|inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive|inflammatory bowel disease, early-onset, autosomal recessive OMIM:619398 owl:Class MONDO:0009396 biolink:NamedThing hyperparathyroidism, neonatal self-limited primary, with hypercalciuria tmpaxzxjjyw_mondo_relaxed.owl hyperparathyroidism, neonatal self-limited primary, with hypercalciuria MESH:C565496|UMLS:C1855924|OMIM:239199 owl:Class MONDO:0007151 biolink:NamedThing arms, malformation of tmpaxzxjjyw_mondo_relaxed.owl arms, malformation of OMIM:107900|MESH:C566258 owl:Class MONDO:0011948 biolink:NamedThing pontocerebellar hypoplasia type 3 Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3. tmpaxzxjjyw_mondo_relaxed.owl PCH with optic atrophy|clam|cerebellar atrophy with progressive microcephaly|PCLO non-syndromic pontocerebellar hypoplasia|Pch with optic atrophy|PCH without dyskinesia|PCH3|non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO|pontocerebellar hypoplasia, type 3 GARD:0010708|UMLS:C1842687|MESH:C548072|SCTID:718609003|OMIM:608027|ICD10:Q04.3|Orphanet:97249|DOID:0060272 https://rarediseases.info.nih.gov/diseases/10708/pontocerebellar-hypoplasia-type-3 owl:Class MONDO:0009728 biolink:NamedThing nephronophthisis 1 Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure. tmpaxzxjjyw_mondo_relaxed.owl nephronophthisis 1|nephronophthisis, familial juvenile|nephronophthisis (disease) caused by mutation in NPHP1|NPHP1|Nph1|familial juvenile nephronophthisis|juvenile nephronophthisis 1|NPH1|juvenile nephronophthisis|NPHP1 nephronophthisis (disease)|nephronophthisis type 1 OMIM:256100|Orphanet:93592|UMLS:CN205459|Orphanet:655|NCIT:C74998|SCTID:444830001|DOID:0111112|UMLS:C1855681|OMIM:615382|MESH:C537699|ICD10:Q61.5 owl:Class GO:0010678 biolink:NamedThing negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-templated Any cellular process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates carried out by repression of transcription. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cellular carbohydrate metabolic process by repression of transcription|negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-dependent|negative regulation of cellular carbohydrate metabolic process by transcriptional repression owl:Class CL:0000080 biolink:NamedThing circulating cell A cell which moves among different tissues of the body, via blood, lymph, or other medium. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0009162 biolink:NamedThing Ellis-van Creveld syndrome Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects. tmpaxzxjjyw_mondo_relaxed.owl Chondroectodermal dysplasia|Ellis Van Creveld syndrome|Mesoectodermal dysplasia|Ellis-van Creveld syndrome|mesodermic dysplasia|Ellis-VAN Creveld syndrome|EVC SCTID:62501005|DOID:12714|NCIT:C84684|OMIM:617088|MESH:D004613|UMLS:C0013903|ICD9:756.55|GARD:0001301|OMIM:225500|Orphanet:289|ICD10:Q77.6|MedDRA:10008724|UMLS:CN239258 https://rarediseases.info.nih.gov/diseases/1301/ellis-van-creveld-syndrome owl:Class MONDO:0004708 biolink:NamedThing esophagus carcinoma in situ Stage 0 includes: For squamous cell carcinoma: Tis (HGD), N0, M0, G1, GX, Tumor location: Any. For adenocarcinoma: Tis (HGD), N0, M0, G1, GX. Tis: High-grade dysplasia. N0: No regional lymph node metastasis. M0: No distant metastasis. G1: Well differentiated. GX: Grade cannot be assessed-stage grouping as G1. Tumor location: Location of the primary cancer site is defined by the position of the upper (proximal) edge of the tumor in the esophagus. (AJCC 7th ed.) tmpaxzxjjyw_mondo_relaxed.owl stage 0 esophageal cancer|carcinoma in situ of esophagus|stage 0 esophageal carcinoma in situ|severe esophageal dysplasia|esophagus in situ carcinoma|esophageal carcinoma in situ|stage 0 esophageal cancer aJCC v7|stage 0 carcinoma of the esophagus|severe esophageal dysplasia aJCC v7|esophageal carcinoma in situ aJCC v7|stage 0 esophagus carcinoma SCTID:92585006|UMLS:C0154059|ICD10:D00.1|ICD9:230.1|DOID:9095|NCIT:C89771 owl:Class UBERON:0010276 biolink:NamedThing space in vertebral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002612 biolink:NamedThing frontal lobe epilepsy A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9) tmpaxzxjjyw_mondo_relaxed.owl epilepsy of frontal lobe|frontal lobe epilepsy UMLS:C0085541|DOID:3331|MESH:D017034|SCTID:230394006 owl:Class MONDO:0005384 biolink:NamedThing partial epilepsy A seizure caused by a localized disorder. tmpaxzxjjyw_mondo_relaxed.owl focal epilepsy|localisation-related epilepsy|partial epilepsy NCIT:C122812|UMLS:C0014547|MESH:D004828|DOID:2234|ICD9:345.50|SCTID:230381009|EFO:0004263 owl:Class MONDO:0034104 biolink:NamedThing global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:544488 owl:Class MONDO:0003538 biolink:NamedThing precursor lymphoblastic lymphoma/leukemia A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003 tmpaxzxjjyw_mondo_relaxed.owl precursor lymphoblastic leukemia/lymphoma|precursor lymphoid neoplasm|precursor lymphoblastic lymphoma/leukemia EFO:0009119|DOID:5600|UMLS:C1335469|NCIT:C7055 owl:Class GO:0048285 biolink:NamedThing organelle fission The creation of two or more organelles by division of one organelle. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0500000 biolink:NamedThing episodic angioedema with eosinophilia A disorder characterized by episodes of swelling under the skin (angioedema) and an elevated number of the white blood cells known as eosinophils (eosinophilia). During these episodes, symptoms of hives (urticaria), fever, swelling, weight gain and eosinophilia may occur. Symptoms usually appear every 3-4 weeks and resolve on their own within several days. Other cells may be elevated during the episodes, such as neutrophils and lymphocytes. Although the syndrome is often considered a subtype of the idiopathic hypereosinophilic syndromes, it does not typically have organ involvement or lead to other health concerns. tmpaxzxjjyw_mondo_relaxed.owl Gleich syndrome|Gleich's syndrome|EAE GARD:0013029 Emily Hartley owl:Class MONDO:0019468 biolink:NamedThing T-cell prolymphocytic leukemia A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line. tmpaxzxjjyw_mondo_relaxed.owl leukemia, T-cell, chronic|chronic T-cell leukemia|T cell prolymphocytic leukemia|TPLL|T prolymphocytic leukemia|T-cell prolymphocytic leukemia|chronic T-cell lymphocytic leukemia|T cell CLL|T cell chronic lymphocytic leukemia|T-cell CLL|CLL, T-cell|T-PLL|T-cell chronic lymphocytic leukemia Orphanet:86871|MESH:D015461|UMLS:C2363142|ICDO:9834/3|SCTID:277567002|ICD10:C91.6|NCIT:C70649|UMLS:C0023494|MedDRA:10042985|EFO:1000560|SCTID:277545003|NCIT:C4752|GARD:0008224|ONCOTREE:TPLL owl:Class CHEBI:32786 biolink:NamedThing tyrosinium An alpha-amino-acid cation that is the conjugate acid of tyrosine, arising from protonation of the amino group. tmpaxzxjjyw_mondo_relaxed.owl 1-carboxy-2-(4-hydroxyphenyl)ethanaminium|tyrosinium|tyrosine cation owl:Class MONDO:0010548 biolink:NamedThing spinocerebellar ataxia, X-linked 2 tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia with extrapyramidal involvement, early-onset|spinocerebellar ataxia, X-linked 2|Scax2|cerebellar ataxia with extrapyramidal involvement early-onset|spinocerebellar ataxia X-linked type 2|spinocerebellar ataxia, X-linked type 2 MESH:C537314|GARD:0009978|OMIM:302600|UMLS:C1844885 owl:Class MONDO:0011869 biolink:NamedThing epidermolysis bullosa simplex superficialis Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or acral superficial erosions in the absence of blisters. tmpaxzxjjyw_mondo_relaxed.owl EBSS|epidermolysis bullosa simplex superficialis Orphanet:89839|ICD10:Q81.0|MESH:C564368|OMIM:607600|UMLS:C1843477 owl:Class MONDO:0001616 biolink:NamedThing lobomycosis A chronic, fungal, subcutaneous infection endemic in rural regions in South America and Central America. The causal organism is Lacazia labol. tmpaxzxjjyw_mondo_relaxed.owl cutaneous lobomycosis|cutaneous blastomycosis|infection by Loboa loboi SCTID:47306003|DOID:13026|MESH:D060368|ICD9:116.2|UMLS:C0152066|EFO:1001805|ICD10:B48.0 owl:Class MONDO:0014998 biolink:NamedThing glaucoma 3, primary congenital, E tmpaxzxjjyw_mondo_relaxed.owl GLC3E|glaucoma 3, primary congenital, type E|glaucoma 3, primary congenital, E|glaucoma 3, primary congenital, E; GLC3E OMIM:617272|UMLS:C4310639 owl:Class MONDO:0009164 biolink:NamedThing encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts tmpaxzxjjyw_mondo_relaxed.owl Lyon syndrome|encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts OMIM:225740|MESH:C565596|UMLS:C1856990 owl:Class HP:0003398 biolink:NamedThing Abnormal synaptic transmission at the neuromuscular junction Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of neuromuscular transmission UMLS:C4020842|UMLS:C4025618 human_phenotype owl:Class MONDO:0019943 biolink:NamedThing hereditary continuous muscle fiber activity Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. tmpaxzxjjyw_mondo_relaxed.owl continuous muscle fiber activity hereditary OMIM:160120|ICD10:G71.1|UMLS:C1834559|GARD:0001512|Orphanet:972 https://rarediseases.info.nih.gov/diseases/1512/continuous-muscle-fiber-activity-hereditary owl:Class HGNC:16232 biolink:NamedThing COX4I2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015867 biolink:NamedThing vaginal carcinoma A carcinoma arising from the vaginal epithelium. The majority of vaginal carcinomas are squamous cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl vaginal carcinoma|vaginal cancer, NOS|cancer of the vagina|vagina cancer|cancer of vagina|vaginal cancer|carcinoma of the vagina|vagina carcinoma|vaginal malignant epithelial tumor|carcinoma of vagina NCIT:C3917|ICD10:C52|DOID:0050918|UMLS:C0262659|Orphanet:180247 owl:Class MONDO:0012402 biolink:NamedThing opioid dependence, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl opioid dependence, susceptibility to, type 1|opioid dependence, susceptibility to, 1|Ods1 OMIM:610064 owl:Class MONDO:0003973 biolink:NamedThing tubular variant testicular seminoma A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in tubular patterns and few lymphocytes. tmpaxzxjjyw_mondo_relaxed.owl testicular seminoma, tubular variant NCIT:C40959|DOID:6706|UMLS:C1515294 owl:Class MONDO:0003669 biolink:NamedThing testicular seminoma A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma. tmpaxzxjjyw_mondo_relaxed.owl testicular seminomatous germ cell tumor|testicular seminoma (disease)|seminoma of testis|testis seminoma|seminoma testis|testicular seminoma|testicular seminoma Pure|seminoma of the testis|seminomatous germ cell tumor of testis MESH:D018239|HP:0100617|Orphanet:842|SCTID:255107005|SCTID:443675005|NCIT:C7328|ICD9:186.9|ICD10:C62.9|GARD:0004792|OMIM:273300|EFO:0003101|DOID:5842 https://rarediseases.info.nih.gov/diseases/4792/testicular-seminoma owl:Class GO:0005761 biolink:NamedThing mitochondrial ribosome A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes. tmpaxzxjjyw_mondo_relaxed.owl 55S ribosome, mitochondrial owl:Class MONDO:0045047 biolink:NamedThing neurosarcoidosis A sarcoidosis that involves the nervous system. tmpaxzxjjyw_mondo_relaxed.owl nervous system sarcoidosis|sarcoidosis of nervous system|neurosarcoidosis MESH:C535814|SCTID:230193008|UMLS:C0393485 owl:Class MONDO:0019685 biolink:NamedThing FGFR3-related chondrodysplasia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93420 owl:Class HGNC:17755 biolink:NamedThing TNFRSF13C tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002269 biolink:NamedThing leukocyte activation involved in inflammatory response A change in the morphology or behavior of a leukocyte resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl leukocyte activation during inflammatory response|immune cell activation during inflammatory response owl:Class MONDO:0005986 biolink:NamedThing torovirus infectious disease Infections with viruses of the genus torovirus, family coronaviridae. tmpaxzxjjyw_mondo_relaxed.owl Torovirus disease or disorder|Torovirus infectious disease|Torovirus caused disease or disorder MESH:D018176|UMLS:C0206607|EFO:0007514 owl:Class MONDO:0018742 biolink:NamedThing familial gastric type 1 neuroendocrine tumor tmpaxzxjjyw_mondo_relaxed.owl familial type 1 gNET|hereditary type 1 gNET Orphanet:464756|UMLS:CN242170 Editor note: align gNET typology. See PMID:9041691 https://jamanetwork.com/journals/jamasurgery/fullarticle/390859 owl:Class MONDO:0017823 biolink:NamedThing somatomammotropinoma tmpaxzxjjyw_mondo_relaxed.owl GH and PRL cosecreting pituitary adenoma|Somatoprolactinoma|Somatolactotropinoma|Growth hormone and prolactin cosecreting pituitary adenoma ICD10:D35.2|UMLS:CN203793|Orphanet:314769 owl:Class MONDO:0017822 biolink:NamedThing mixed functioning pituitary adenoma tmpaxzxjjyw_mondo_relaxed.owl mixed secreting pituitary adenoma UMLS:C0346305|Orphanet:314759|SCTID:254961003 owl:Class MONDO:0008487 biolink:NamedThing polycystic ovary syndrome A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity. tmpaxzxjjyw_mondo_relaxed.owl Stein-Leventhal synd.|polycystic ovary syndrome|PCOS1|polycystic ovary syndrome 1|PCO1|polycystic ovary|Stein-Leventhal syndrome|PCOS|polycystic ovarian disease|hyperandrogenemia|polycystic ovaries|multicystic ovaries EFO:0000660|OMIM:184700|ICD9:256.4|UMLS:C0032460|SCTID:69878008|Orphanet:3185|DOID:11612|ICD10:E28.2|NCIT:C26862|MESH:D011085 owl:Class MONDO:0012226 biolink:NamedThing febrile seizures, familial, 5 tmpaxzxjjyw_mondo_relaxed.owl convulsions, familial febrile, 5|febrile seizures, familial, 5|FEB5 OMIM:609255|DOID:0111306|UMLS:C1836507|MESH:C563762 owl:Class HGNC:7573 biolink:NamedThing MYH3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004341 biolink:NamedThing colloid carcinoma of the pancreas An infiltrating pancreatic ductal adenocarcinoma, characterized by the presence of malignant cells floating in pools of mucin. It has a more favorable prognosis than the conventional infiltrating ductal adenocarcinoma. It often arises in association with intraductal pancreatic mucinous neoplasms and in some cases it may result in the development of pseudomyxoma peritonei. tmpaxzxjjyw_mondo_relaxed.owl pancreatic mucinous Noncystic carcinoma|mucinous Noncystic carcinoma|colloid carcinoma of the pancreas DOID:7717|NCIT:C37214|UMLS:C1333081 owl:Class CL:0000980 biolink:NamedThing plasmablast An activated mature (naive or memory) B cell that is secreting immunoglobulin, typified by being CD27-positive, CD38-positive, CD138-negative. tmpaxzxjjyw_mondo_relaxed.owl CD20-negative B cell|CD27-positive, CD38-positive, CD20-negative B cell FMA:84371 This cell type is compatible with the HIPC Lyoplate markers for 'plasmablast'. Plasmablasts are also reportedly CD48-positive, CD63-positive, CD229-positive, CD270-positive, CD319-positive, CD352-positive, CD361-positive, and IgD-negative. cell owl:Class GO:1900016 biolink:NamedThing negative regulation of cytokine production involved in inflammatory response Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl down regulation of cytokine production involved in inflammatory response|negative regulation of cytokine production involved in acute inflammatory response|down regulation of cytokine production involved in acute inflammatory response owl:Class MONDO:0003078 biolink:NamedThing extraocular retinoblastoma Retinoblastoma that has spread beyond the eye e.g. to brain, soft tissue/bone, bone marrow. tmpaxzxjjyw_mondo_relaxed.owl extraocular retinoblastoma|metastatic retinoblastoma DOID:4656|UMLS:C0278719|NCIT:C7848 owl:Class MONDO:0021456 biolink:NamedThing benign neoplasm of sternum A benign neoplasm that involves the sternum. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the sternum|benign tumor of the sternum|benign tumor of sternum|sternum benign neoplasm|benign sternal tumor|benign sternal neoplasm NCIT:C8416|UMLS:C0347312|SCTID:92410006 owl:Class MONDO:0011466 biolink:NamedThing distal myopathy, Welander type Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors. tmpaxzxjjyw_mondo_relaxed.owl Welander distal myopathy|muscular dystrophy, distal, late-onset, autosomal dominant|distal myopathy, Swedish type|myopathy, distal, Swedish|WDM|Welander distal myopathy, Swedish type OMIM:604454|UMLS:CN205368|GARD:0005552|Orphanet:603|ICD10:G71.0 owl:Class UBERON:8410036 biolink:NamedThing medullary venule of lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007696 biolink:NamedThing Emery-Nelson syndrome tmpaxzxjjyw_mondo_relaxed.owl hand and foot deformity - flat facies|familial syndrome of short stature, deformities of the hands and feet, and unusual facies|hand and foot deformity with flat facies|hand and foot deformity-flat facies syndrome OMIM:139750|GARD:0002593|Orphanet:1927|ICD10:Q87.8|UMLS:C1841693|MESH:C535626 owl:Class MONDO:0006894 biolink:NamedThing patellofemoral pain syndrome A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome. tmpaxzxjjyw_mondo_relaxed.owl SCTID:430725003|UMLS:C0877149|EFO:1001092|MESH:D046788|MedDRA:10049143|DOID:14284 owl:Class MONDO:0008083 biolink:NamedThing ceroid lipofuscinosis, neuronal, 4 (Kufs type) A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. tmpaxzxjjyw_mondo_relaxed.owl CLN4B disease|neuronal ceroid lipofuscinosis, parry type|ceroid lipofuscinosis, neuronal, 4 (Kufs type)|autosomal dominant Kufs disease|autosomal dominant neuronal ceroid lipofuscinosis 4B|neuronal ceroid lipofuscinosis type 4B|CLN4|neuronal ceroid lipofuscinosis 4 parry type|adult neuronal ceroid lipofuscinosis 4B|Kufs disease, autosomal dominant|Kuf's disease type B|CLN4B|ceroid lipofuscinosis, neuronal, parry type|Kuf's disease, autosomal dominant|neuronal ceroid lipofuscinosis 4B|ceroid lipofuscinosis, neuronal, 4B, autosomal dominant OMIM:162350|NCIT:C128116|ICD10:E75.4|Orphanet:79262|UMLS:C1834207|Orphanet:228343|DOID:0110720|UMLS:C4284284|GARD:0001222 owl:Class MONDO:0001921 biolink:NamedThing chronic atticoantral disease A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. tmpaxzxjjyw_mondo_relaxed.owl chronic atticoantral suppurative otitis media DOID:14248|ICD10:H66.20|SCTID:267759006|ICD10:H66.2|UMLS:C0155441|UMLS:C0565831|ICD9:382.2 owl:Class MONDO:0013078 biolink:NamedThing type 1 diabetes mellitus 24 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q23.31. tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 24|IDDM24|insulin-dependent diabetes mellitus 24 ICD10:E10|DOID:0110761|OMIM:613006|UMLS:C2751697|MESH:C567818 owl:Class MONDO:0009390 biolink:NamedThing hyperlysinuria with hyperammonemia tmpaxzxjjyw_mondo_relaxed.owl hyperlysinemia, periodic|hyperlysinuria with hyperammonemia OMIM:238750|ICD9:270.7|SCTID:342553006|UMLS:C0268555 owl:Class MONDO:0005413 biolink:NamedThing cystic fibrosis associated meconium ileus Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis. The presence of meconium ileus is not related to the severity of the cystic fibrosis. tmpaxzxjjyw_mondo_relaxed.owl cystic fibrosis associated meconium ileum EFO:0004608 owl:Class CHEBI:66956 biolink:NamedThing antidyskinesia agent Any compound which can be used to treat or alleviate the symptoms of dyskinesia. tmpaxzxjjyw_mondo_relaxed.owl antidyskinesia drugs|antidyskinesia agents|antidyskinetic drugs|antidyskinesia drug|antidyskinetic agent|antidyskinetic agents|antidyskinetic drug owl:Class MONDO:0002802 biolink:NamedThing functional colonic disease Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized irritable bowel syndrome falls into this category. tmpaxzxjjyw_mondo_relaxed.owl MESH:D003109|DOID:3877|UMLS:C0009374 owl:Class HGNC:9826 biolink:NamedThing RAD54L tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025691 biolink:NamedThing dystonia 30 tmpaxzxjjyw_mondo_relaxed.owl DYT30 OMIM:619291 owl:Class MONDO:0000814 biolink:NamedThing B-cell adult acute lymphocytic leukemia An acute B-lymphoblastic leukemia occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl adult B cell acute lymphoblastic leukemia|adult B cell acute lymphocytic leukemia|B-cell adult acute lymphoblastic leukemia|B acute lymphoblastic leukemia|adult B-lymphoblastic leukemia|B-cell adult ALL|adult B-cell ALL|adult precursor B-lymphoblastic leukemia|adult B cell ALL|adult B-cell acute lymphoblastic leukemia|B cell adult ALL|B cell adult acute lymphoblastic leukemia|adult B-cell childhood acute lymphoblastic leukemia|adult B-cell acute lymphocytic leukemia|adult B-cell lymphocytic leukemia|B-cell childhood acute lymphoblastic leukemia of adults|B cell adult acute lymphocytic leukemia|adult B acute lymphoblastic leukemia UMLS:C0279593|EFO:1001935|NCIT:C9143|DOID:0060592 owl:Class MONDO:0016781 biolink:NamedThing maternal 14q32.2 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl maternal del(14)(q32.2)|maternal monosomy 14q32.2 Orphanet:254528|ICD10:Q93.5|UMLS:CN202037 owl:Class GO:0007320 biolink:NamedThing insemination The introduction of semen or sperm into the genital tract of a female. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002042 biolink:NamedThing mechanical ectropion An ectropion with a mechanical etiology. tmpaxzxjjyw_mondo_relaxed.owl SCTID:45020000|ICD9:374.12|ICD10:H02.121-129|UMLS:C0155194|DOID:1569 owl:Class GO:0045616 biolink:NamedThing regulation of keratinocyte differentiation Any process that modulates the frequency, rate or extent of keratinocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002246 biolink:NamedThing peripheral blood stem cell A hematopoeitic stem cell found in the blood. Normally found in very limited numbers in the peripheral circulation (less than 0.1% of all nucleated cells). tmpaxzxjjyw_mondo_relaxed.owl PBSC BTO:0002669|FMA:86711 tmeehan 2010-09-07T03:57:09Z cell owl:Class CL:0000037 biolink:NamedThing hematopoietic stem cell A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4, CD5 ,CD8 alpha chain, CD11b, CD14, CD19, CD20, CD56, ly6G, ter119. tmpaxzxjjyw_mondo_relaxed.owl HSC|colony forming unit hematopoietic|blood forming stem cell|hemopoietic stem cell BTO:0000725|FMA:70337|CALOHA:TS-0448|FMA:86475|VHOG:0001485 Markers differ between species, and two sets of markers have been described for mice. HSCs are reportedly CD34-positive, CD45-positive, CD48-negative, CD150-positive, CD133-positive, and CD244-negative. cell owl:Class UBERON:0013758 biolink:NamedThing cervical os tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10718 biolink:NamedThing SELE tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29256 biolink:NamedThing SOBP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000225 biolink:NamedThing human monocytic ehrlichiosis A form of ehrlichiosis associated with Ehrlichia chaffeensis, an obligate intracellular pathogen affecting monocytes and macrophages. tmpaxzxjjyw_mondo_relaxed.owl HME|ehrlichiosis chafeensis|human ehrlichiosis caused by Ehrlichia chaffeensis|human ehrlichiosis due to Ehrlichia chaffeensis|Human ehrlichial infection, human monocytic type GARD:0000072|SCTID:359747000|ICD9:082.41|UMLS:C1282983|DOID:0050026 https://rarediseases.info.nih.gov/diseases/72/human-monocytic-ehrlichiosis owl:Class CHEBI:18407 biolink:NamedThing hydrogen cyanide A one-carbon compound consisting of a methine group triple bonded to a nitrogen atom tmpaxzxjjyw_mondo_relaxed.owl formonitrile|Hydrogen cyanide|hydridonitridocarbon|methanenitrile|hydrocyanic acid|hydrogen cyanide|Blausaeure|HCN|Cyanwasserstoff|[CHN]|hydrogen(nitridocarbonate) owl:Class MONDO:0002632 biolink:NamedThing metachronous osteosarcoma of the bone A bone osteosarcoma that has metastasized to skeletal or extraskeletal sites. tmpaxzxjjyw_mondo_relaxed.owl metachronous osteosarcoma|metachronous osteosarcoma of the bone NCIT:C38157|DOID:3379|UMLS:C1334704 owl:Class MONDO:0013009 biolink:NamedThing Megarbane-Jalkh syndrome tmpaxzxjjyw_mondo_relaxed.owl developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure|Megarbane Jalkh syndrome|Megarbane-Jalkh syndrome|developmental delay dysmorphic features neonatal spontaneous fractures wrinkled skin and hepatic failure GARD:0010689|UMLS:C2748555|MESH:C548071|OMIM:612785 https://rarediseases.info.nih.gov/diseases/10689/megarbane-jalkh-syndrome owl:Class MONDO:0007533 biolink:NamedThing elliptocytosis 2 Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene. tmpaxzxjjyw_mondo_relaxed.owl elliptocytosis, Rhesus-unlinked type|elliptocytosis type 2|EL2|elliptocytosis 2|hereditary elliptocytosis caused by mutation in SPTA1|SPTA1 hereditary elliptocytosis UMLS:C1851741|Orphanet:288|OMIM:130600|MESH:C565058 owl:Class MONDO:0023124 biolink:NamedThing familial pulmonary arterial hypertension leucopenia and atrial septal defect tmpaxzxjjyw_mondo_relaxed.owl familial pulmonary arterial hypertension, leucopenia and ASD|familial PAH, leucopenia and ASD GARD:0010455 https://rarediseases.info.nih.gov/diseases/10455/familial-pulmonary-arterial-hypertension-leucopenia-and-atrial-septal-defect owl:Class MONDO:0004209 biolink:NamedThing cerebral primitive neuroectodermal tumor A central nervous system embryonal tumor, not otherwise specified arising from the cerebral hemispheres. tmpaxzxjjyw_mondo_relaxed.owl cerebral hemisphere PNET|primitive neuroectodermal neoplasm of the cerebrum|PNET of the cerebrum|PNET of the cerebral hemispheres|primitive neuroectodermal neoplasm of the cerebral hemispheres|primitive neuroectodermal neoplasm of cerebrum|PNET of cerebrum|primitive neuroectodermal tumor of cerebrum|cerebral primitive neuroectodermal neoplasm|PNET of cerebral hemispheres|cerebral hemisphere primitive neuroectodermal tumor|cerebral PNET|primitive neuroectodermal tumor of cerebral hemispheres|primitive neuroectodermal tumor of the cerebral hemispheres|cerebral primitive neuroectodermal tumor|primitive neuroectodermal neoplasm of cerebral hemispheres|primitive neuroectodermal tumor of the cerebrum|cerebral hemisphere primitive neuroectodermal neoplasm NCIT:C4970|UMLS:C0751675|DOID:7398 owl:Class UBERON:0010355 biolink:NamedThing ossification center tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000076 biolink:NamedThing hindlimb stylopod vein endothelial cell Any vein endothelial cell that is part of a hindlimb stylopod. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-12-02T18:40:47Z cell owl:Class CL:0002543 biolink:NamedThing vein endothelial cell An endothelial cell that is part of the vein. tmpaxzxjjyw_mondo_relaxed.owl endothelial cell of vein|venous endothelial cell FMA:62104|KUPO:0001099 tmeehan 2011-02-28T03:48:11Z CL:1000393 cell owl:Class NCBITaxon:451867 biolink:NamedThing Dothideomycetidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:17486979 ncbi_taxonomy owl:Class MONDO:0600019 biolink:NamedThing acinar dysplasia caused by mutation in TBX4 Any acinar dysplasia in which the cause of the disease is a mutation in the TBX4 gene. tmpaxzxjjyw_mondo_relaxed.owl TBX4 related acinar dysplasia|TBX4 acinar dysplasia http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/issues/3188 owl:Class MONDO:0025087 biolink:NamedThing classical swine fever An acute, highly contagious disease affecting swine of all ages and caused by the classical swine fever virus. It has a sudden onset with high morbidity and mortality. tmpaxzxjjyw_mondo_relaxed.owl cholera, Hog|swine fever|swine fever, classical|Hog cholera UMLS:C0019841|MESH:D006691 owl:Class HP:0007364 biolink:NamedThing Aplasia/Hypoplasia of the cerebrum tmpaxzxjjyw_mondo_relaxed.owl Absent/small cerebrum|Absent/underdeveloped cerebrum UMLS:C4024902 peter 2008-03-31T05:43:00Z human_phenotype owl:Class MONDO:0045019 biolink:NamedThing lactation disease tmpaxzxjjyw_mondo_relaxed.owl disorder of lactation|lactation disease UMLS:C0022927|SCTID:35046003 owl:Class MONDO:0013803 biolink:NamedThing leukoencephalopathy with calcifications and cysts tmpaxzxjjyw_mondo_relaxed.owl LCC|Labrune syndrome|leukoencephalopathy, brain calcifications, and cysts OMIM:614561|Orphanet:542310|UMLS:C3281200|MESH:C000598644 owl:Class GO:0060125 biolink:NamedThing negative regulation of growth hormone secretion Any process that decreases or stops the frequency, rate or extent of the regulated release of growth hormone from a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060123 biolink:NamedThing regulation of growth hormone secretion Any process that modulates the frequency, rate or extent of the regulated release of growth hormone from a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017068 biolink:NamedThing upper thoracic spina bifida aperta tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268740|UMLS:CN202428 owl:Class MONDO:0005679 biolink:NamedThing bovine virus diarrhea-mucosal disease Acute disease of cattle caused by the bovine viral diarrhea viruses (diarrhea viruses, bovine viral). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006075|EFO:0007181|MESH:D001912 owl:Class CHEBI:33424 biolink:NamedThing sulfur oxoacid derivative tmpaxzxjjyw_mondo_relaxed.owl sulfur oxoacid derivative|sulfur oxoacid derivatives owl:Class MONDO:0044726 biolink:NamedThing psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome tmpaxzxjjyw_mondo_relaxed.owl Cerebrorenal syndrome, Perez type|BILAPES|Birk-Landau-Perez syndrome Orphanet:505242|OMIM:617595|UMLS:CN353477 owl:Class MONDO:0017764 biolink:NamedThing disorder of zinc metabolism tmpaxzxjjyw_mondo_relaxed.owl disorder of zinc metabolism and transport SCTID:46727001|ICD9:275.8|Orphanet:309845|ICD10:E83.2|MedDRA:10048260 owl:Class NCBITaxon:6657 biolink:NamedThing Crustacea tmpaxzxjjyw_mondo_relaxed.owl crustaceans GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010700 biolink:NamedThing phalanx pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000408 biolink:NamedThing environmental zone A site which has its extent determined by the presence or influence of one or more components of an environmental system or the processes occurring therein. tmpaxzxjjyw_mondo_relaxed.owl environmental area owl:Class MONDO:0018156 biolink:NamedThing 3q26q27 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl monosomy 3q26-q27|3q26-q27microdeletion syndrome|Del(3)(q26q27)|monosomy 3q26q27 ICD10:Q93.5|UMLS:CN204590|Orphanet:356947 owl:Class MONDO:0010683 biolink:NamedThing X-linked centronuclear myopathy X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. tmpaxzxjjyw_mondo_relaxed.owl XLMTM|centronuclear myopathy, X-linked|myotubular myopathy, X-linked|myopathy, centronuclear, X-linked|CNMX|MTM|XLCNM|X-linked centronuclear myopathy|myotubular myopathy 1|X-linked myotubular myopathy Orphanet:596|GARD:0011925|DOID:0111225|OMIM:310400|ICD10:G71.2|UMLS:C0410203|SCTID:46804001|NCIT:C118781 owl:Class MONDO:0016154 biolink:NamedThing qualitative or quantitative defects of myotubularin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:207110 owl:Class MONDO:0010686 biolink:NamedThing N syndrome N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity. tmpaxzxjjyw_mondo_relaxed.owl N syndrome|intellectual disability, malformations, chromosome breakage, and development of T-cell leukemia|mental retardation, malformations, chromosome breakage, and development of T-cell leukemia|NSX ICD10:Q87.8|Orphanet:2608|UMLS:C2936859|GARD:0003902|DOID:0050769|OMIM:310465|MESH:C536108|SCTID:723410002 https://rarediseases.info.nih.gov/diseases/3902/n-syndrome owl:Class HGNC:8064 biolink:NamedThing NUP214 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10993 biolink:NamedThing SLC26A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100231 biolink:NamedThing psoriatic arthritis, susceptibility to, 1 A susceptibility or predisposition to psoriatic arthritis, in which the cause of the disease is a mutation in the LTA gene. Psoriatic arthritis affects more than 10% of patients with psoriasis and, in most cases, there is an association between the severity of the arthritis and the skin involvement. tmpaxzxjjyw_mondo_relaxed.owl psoriatic arthritis, susceptibility to, 1|psoriatic arthritis susceptibility caused by LTA OMIM:607507 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0010063 biolink:NamedThing tympanic cavity epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003337 biolink:NamedThing serosa of jejunum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007042 biolink:NamedThing Saethre-Chotzen syndrome Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations. tmpaxzxjjyw_mondo_relaxed.owl SCS|blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)|acrocephalosyndactyly type III|acrocephalosyndactyly type 3|acrocephalo-syndactyly, type 3|Chotzen syndrome|type III Acrocephalosyndactyly|acrocephaly, skull asymmetry, and mild syndactyly|acrocephalosyndactyly, type 3|blepharophimosis, epicanthus inversus, and ptosis 3|Saethre-Chotzen syndrome|Saethre-Chotzen syndrome with eyelid anomalies|ACS 3|ACS3|blepharophimosis, epicanthus inversus, and ptosis 3, formerly OMIM:101400|SCTID:83015004|MESH:D000168|NCIT:C75034|Orphanet:794|UMLS:C0175699|EFO:0007029|GARD:0007598|DOID:14768|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/7598/saethre-chotzen-syndrome owl:Class UBERON:0006953 biolink:NamedThing ejaculatory duct epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013355 biolink:NamedThing congenital dyserythropoietic anemia type 4 Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth. tmpaxzxjjyw_mondo_relaxed.owl CDA, type 4|CDAN4|CDA type IV|congenital dyserythropoietic anemia due to KLF1 mutation|CDA IV|anemia, congenital dyserythropoietic, type IV|CDA due to KLF1 mutation|anemia, congenital dyserythropoietic, type 4|congenital dyserythropoietic anemia type 4|CDA type 4 DOID:0111400|Orphanet:293825|UMLS:C3150926|ICD10:D64.4|SCTID:719453009|OMIM:613673 owl:Class UBERON:0007602 biolink:NamedThing stratified columnar epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010929 biolink:NamedThing Abnormal blood cation concentration An abnormality of cation homeostasis. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of cation homeostasis UMLS:C4023646 peter 2011-01-06T10:36:04Z human_phenotype owl:Class MONDO:0003969 biolink:NamedThing amphetamine abuse Disorders related or resulting from use of amphetamines. tmpaxzxjjyw_mondo_relaxed.owl MESH:D019969|SCTID:84758004|ICD9:305.70|ICD9:305.7|DOID:670 owl:Class MONDO:0002491 biolink:NamedThing substance abuse The use of a drug for a reason other than which it was intended or in a manner or in quantities other than directed. tmpaxzxjjyw_mondo_relaxed.owl ICD9:305.90|SCTID:66214007|NCIT:C16522|DOID:302|MESH:D019966 owl:Class UBERON:0005177 biolink:NamedThing trunk region element tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032277 biolink:NamedThing negative regulation of gonadotropin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a gonadotropin. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of gonadotrophin secretion|downregulation of gonadotropin secretion|down-regulation of gonadotropin secretion|down regulation of gonadotropin secretion|inhibition of gonadotropin secretion owl:Class MONDO:0015471 biolink:NamedThing benign focal seizures of adolescence tmpaxzxjjyw_mondo_relaxed.owl adolescent benign focal crisis ICD10:G40.8|SCTID:715425000|UMLS:C4275141|Orphanet:1544 owl:Class MONDO:0004204 biolink:NamedThing squamous cell skin papilloma A squamous papilloma that involves the zone of skin. tmpaxzxjjyw_mondo_relaxed.owl parakeratotic papilloma of skin|squamous cell papilloma of the skin|Dyskeratotic skin papilloma|hyperkeratotic papilloma of the skin|hyperkeratotic skin papilloma|zone of skin squamous papilloma|hyperkeratotic papilloma of skin|parakeratotic papilloma of the skin|squamous cell papilloma of skin|squamous cell skin papilloma|Dyskeratotic papilloma of skin|parakeratotic skin papilloma|Dyskeratotic papilloma of the skin SCTID:254661000|DOID:7380|NCIT:C4462|UMLS:C0345983 owl:Class MONDO:0006931 biolink:NamedThing pulmonary coin lesion A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the chest wall, or the pleura. tmpaxzxjjyw_mondo_relaxed.owl coin lesion of lung|coin lesion of lung (context-dependent category)|coin lesion lung|coin lesion of lung (finding) EFO:1001133|MESH:D003074|UMLS:C0009250|DOID:5364|ICD10:R91.1 owl:Class MONDO:0032698 biolink:NamedThing neurodevelopmental disorder with central and peripheral motor dysfunction tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION|NEDCPMD OMIM:618356 owl:Class UBERON:0013280 biolink:NamedThing diaphysis of tibia tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019420 biolink:NamedThing X-linked intellectual disability, Pai type X-linked intellectual disability, Pai type is characterised by the association of dysmorphism with intellectual deficit. It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been localised to the q28 region of the X chromosome. tmpaxzxjjyw_mondo_relaxed.owl SCTID:719011002|UMLS:CN206176|Orphanet:85322|ICD10:Q87.8 owl:Class MONDO:0037255 biolink:NamedThing ovarian serous tumor A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of neoplastic epithelial cells that, in well differentiated tumors, resemble the epithelial cells of the fallopian tube and, in poorly differentiated tumors, show anaplastic features. Approximately thirty to fifty percent of the tumors are bilateral. Grossly, the better differentiated tumors consist of cystic masses, usually unilocular, containing a clear but sometimes viscous fluid. Papillary formations are often present. The more malignant tumors tend to be solid and invasive, with areas of necrosis and hemorrhage. tmpaxzxjjyw_mondo_relaxed.owl serous tumor of the ovary|ovarian serous tumor|serous tumor of ovary|serous neoplasm of ovary|ovarian serous neoplasm|serous neoplasm of the ovary UMLS:C0476122|NCIT:C8431 owl:Class MONDO:0011373 biolink:NamedThing urinary tract infections, recurrent, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl urinary tract infections, recurrent, susceptibility to OMIM:603806 owl:Class MONDO:0008919 biolink:NamedThing systemic primary carnitine deficiency disease Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma. tmpaxzxjjyw_mondo_relaxed.owl Carnitine transporter, plasma-Membrane, deficiency of|renal carnitine transport defect|SPCD|Carnitine transporter defect|Carnitine uptake defect|cud|CDSP|Carnitine plasma-membrane transporter deficiency|systemic Carnitine deficiency|Carnitine deficiency, primary|systemic primary carnitine deficiency|Carnitine uptake deficiency|deficiency of plasma-membrane carnitine transporter|Carnitine deficiency|primary carnitine deficiency|Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine|carnitine uptake defect|systemic primary carnitine deficiency disease|Carnitine deficiency, systemic, due to defect in renal reabsorption of Carnitine|CARNITINE deficiency, systemic primary|carnitine transporter deficiency SCTID:21764004|ICD9:277.82|ICD10:E71.42|ICD9:277.81|DOID:14365|ICD10:E71.41|NCIT:C98864|UMLS:C0342788|MESH:C536778|Orphanet:158|OMIM:212140|GARD:0005104|ICD10:E71.3 owl:Class MONDO:0005229 biolink:NamedThing bacterial infectious disease with sepsis An infectious disease caused by bacteria causing sepsis. tmpaxzxjjyw_mondo_relaxed.owl Bacteremias|symptomatic bacteremia|bacteremia|bacterial sepsis Wikipedia:Bacteremia|NCIT:C102993|UMLS:C0004610|ICD9:790.7|DOID:0040085|MESH:D016470|SCTID:5758002|EFO:0003033 owl:Class MONDO:0015272 biolink:NamedThing camptodactyly-taurinuria syndrome Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. tmpaxzxjjyw_mondo_relaxed.owl camptodactyly with taurinuria|familial streblodactyly with amino-aciduria|camptodactyly taurinuria Orphanet:1325|SCTID:733466005|UMLS:C2931681|ICD10:Q68.1|GARD:0001069|MESH:C537972 owl:Class MONDO:0005562 biolink:NamedThing age-related hearing impairment Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males. tmpaxzxjjyw_mondo_relaxed.owl ARHI EFO:0005782 Editor note: check classification sensorineural vs conductive owl:Class MONDO:0007100 biolink:NamedThing familial amyloid neuropathy Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur. tmpaxzxjjyw_mondo_relaxed.owl amyloidosis transthyretin related|ATTRV30M amyloidosis|transthyretin-related hereditary amyloidosis|hereditary amyloidosis, transthyretin-related|paramyloidosis|transthyretin amyloid neuropathy|Corino de Andrade's disease|familial amyloid polyneuropathy type I|amyloid Neuropathies, familial|TTR amyloid neuropathy|familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type|familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese type)|amyloid polyneuropathy, familial|amyloidosis, leptomeningeal, transthyretin-related|transthyretin amyloidosis|familial amyloid polyneuropathy|TTR amyloidosis|transthyretin amyloid polyneuropathy|familial transthyretin amyloidosis|amyloid cardiomyopathy, transthyretin-related|ATTRV30M-related amyloidosis|familial amyloid neuropathy|amyloidosis, hereditary, transthyretin-related UMLS:C0206245|NCIT:C84554|Orphanet:85447|EFO:0004129|GARD:0000656|ICD10:E85.1+|DOID:0050638|ICD9:277.39|Orphanet:85451|DOID:0050761|UMLS:C2751492|OMIM:105210|MESH:C567782|ICD10:G63.3*|SCTID:42295001 owl:Class MONDO:0017132 biolink:NamedThing hereditary ATTR amyloidosis tmpaxzxjjyw_mondo_relaxed.owl familial TTR-related amyloidosis|hereditary ATTR amyloidosis|familial transthyretin-related amyloidosis Orphanet:271861|UMLS:CN227096 owl:Class HGNC:8803 biolink:NamedThing PDGFRA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011210 biolink:NamedThing mitochondrial intermembrane space protein Tim12, yeast, homolog of tmpaxzxjjyw_mondo_relaxed.owl mitochondrial intermembrane space protein Tim12, yeast, homolog of OMIM:602252 owl:Class GO:1901505 biolink:NamedThing carbohydrate derivative transmembrane transporter activity Enables the transfer of carbohydrate derivative from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl carbohydrate derivative transporter activity owl:Class NCIT:C36807 biolink:NamedThing Dysplastic Epithelial Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011664 biolink:NamedThing immunodeficiency due to CD25 deficiency tmpaxzxjjyw_mondo_relaxed.owl IL2RA deficiency|immunodeficiency due to CD25 deficiency|Interleukin-2 receptor alpha chain deficiency|IMD41|Interleukin 2 receptor, alpha, deficiency of|CD25 deficiency|immunodeficiency 41 with lymphoproliferation and autoimmunity ICD10:D81.2|OMIM:606367|MESH:C565232|UMLS:C1853392|Orphanet:169100 owl:Class MONDO:0018822 biolink:NamedThing global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome is a rare, genetic, neurological disorder characterized by mild to severe developmental delay and speech impairment, truncal hypotonia, abnormalities of vision (including cortical visual impairment and abnormal visual-evoked potentials), progressive brain atrophy mainly affecting the cerebellum, and shortened or atrophic corpus callosum. Other clinical findings may include increased muscle tone in the extremities, dystonic posturing, hyporeflexia, scoliosis, postnatal microcephaly and variable facial dysmorphism (e.g. deep-set eyes, gingival hyperplasia, short philtrum and retrognathia). tmpaxzxjjyw_mondo_relaxed.owl Orphanet:480898|UMLS:CN776946 owl:Class UBERON:0016525 biolink:NamedThing frontal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003784 biolink:NamedThing nasal cavity carcinoma in situ A in situ carcinoma that involves the nasal cavity. tmpaxzxjjyw_mondo_relaxed.owl stage 0 carcinoma of the nasal cavity|stage 0 nasal cavity carcinoma aJCC v7|carcinoma in situ of the nasal cavity|stage 0 nasal cavity carcinoma aJCC v8|carcinoma in situ of nasal cavity|nasal cavity in situ carcinoma|stage 0 nasal cavity carcinoma|stage 0 nasal cavity cancer aJCC v6, v7, and v8|nasal cavity carcinoma in situ|stage 0 nasal cavity cancer|stage 0 carcinoma of nasal cavity|stage 0 nasal cavity carcinoma aJCC v6|carcinoma in situ of nasal cavities SCTID:92663007|ICD10:D02.3|UMLS:C0347095|DOID:6148|ICD9:231.8|NCIT:C4589 owl:Class HGNC:10418 biolink:NamedThing RPS28 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:89593 biolink:NamedThing Craniata tmpaxzxjjyw_mondo_relaxed.owl Craniata GC_ID:1 ncbi_taxonomy owl:Class GO:0043031 biolink:NamedThing negative regulation of macrophage activation Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage activation. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of macrophage polarization|inhibition of macrophage activation|down-regulation of macrophage activation|down regulation of macrophage activation|downregulation of macrophage activation owl:Class MONDO:0014225 biolink:NamedThing hemochromatosis type 5 Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene. tmpaxzxjjyw_mondo_relaxed.owl FTH1-associated iron overload|FTH1 hereditary hemochromatosis|FTH1-related iron overload|iron overload, autosomal dominant|HFE5|hereditary hemochromatosis caused by mutation in FTH1|hemochromatosis, type 5 ICD10:E83.1|UMLS:CN237708|MESH:C565020|Orphanet:447792|UMLS:CN181217|OMIM:615517|Orphanet:247790|UMLS:C1851316|DOID:0111031 Editor notes: ORDO treats this as two diseases owl:Class MONDO:0005219 biolink:NamedThing breast fibrocystic disease Fibrosis associated with cyst formation in the breast parenchyma. tmpaxzxjjyw_mondo_relaxed.owl cystic disease of breast|fibrocystic change of the breast|fibrocystic disease of breast|fibrocystic disease of the breast|mammary dysplasia|fibrocystic breast|fibrocystic change of breast|fibrocystic disease|benign breast disease|fibrocystic breast disease|breast fibrocystic change|fibrocystic mastopathy|fibrocystic breast changes|cystic disease of the breast|diffuse cystic mastopathy ICD10:N60|UMLS:C0016034|NCIT:C3039|MESH:D005348|EFO:0003014|DOID:10354|ICD10:N60.1|ICD9:610.1 Some sources classify this as neoplastic but we follow NCIT and classify as non-neoplastic owl:Class GO:0046504 biolink:NamedThing glycerol ether biosynthetic process The chemical reactions and pathways resulting in the formation of glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol. tmpaxzxjjyw_mondo_relaxed.owl glycerol ether synthesis|glycerol ether anabolism|glycerol ether biosynthesis|glycerol ether formation owl:Class MONDO:0021455 biolink:NamedThing benign neoplasm of neck A benign neoplasm that involves the neck. tmpaxzxjjyw_mondo_relaxed.owl neck benign neoplasm|benign neck neoplasm|benign neck tumor|benign tumor of the neck|benign neoplasm of the neck|benign tumor of neck SCTID:92246000|NCIT:C4884|UMLS:C0684815|ICD9:229.8 owl:Class MONDO:0023567 biolink:NamedThing Kozlowski Brown Hardwick syndrome tmpaxzxjjyw_mondo_relaxed.owl unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus GARD:0003136|UMLS:C2931511|MESH:C537506 https://rarediseases.info.nih.gov/diseases/3136/kozlowski-brown-hardwick-syndrome owl:Class MONDO:0060783 biolink:NamedThing classic congenital adrenal hyperplasia A severe form of congenital adrenal hyperplasia characterized by very low or absent activity of an enzyme in the steroidogenic pathway typically presenting early in life, and requiring life-long cortisol replacement. tmpaxzxjjyw_mondo_relaxed.owl classic congenital adrenal hyperplasia|classic CAH NCIT:C131423|UMLS:C4329672 owl:Class MONDO:0002177 biolink:NamedThing hyperinsulinism Abnormally high levels of insulin in the blood. tmpaxzxjjyw_mondo_relaxed.owl hyperinsulinism|hyperinsulinism (disease)|hyperinsulinemia hyperinsulinism (disease) ICD9:251.1|MESH:D006946|UMLS:C0020459|NCIT:C113104|SCTID:83469008|HP:0000842|ICD10:E16.1|DOID:2018 owl:Class MONDO:0007516 biolink:NamedThing ectrodactyly and ectodermal dysplasia without cleft lip/palate tmpaxzxjjyw_mondo_relaxed.owl EEC syndrome without cleft Lip/palate|ectrodactyly-ectodermal dysplasia without clefting syndrome|ectrodactyly and ectodermal dysplasia without cleft lip/palate UMLS:C1851849|OMIM:129810|MESH:C565065|Orphanet:1888 owl:Class MONDO:0033645 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 11 tmpaxzxjjyw_mondo_relaxed.owl MC4DN11 OMIM:619054 owl:Class MONDO:0020597 biolink:NamedThing angiokeratoma of scrotum An angiokeratoma that is located on the scrotum. tmpaxzxjjyw_mondo_relaxed.owl scrotum angiokeratoma|scrotal angiokeratoma|angiokeratoma of the scrotum|fordyce-type angiokeratoma of the scrotum|fordyce angiokeratoma|angiokeratoma of scrotum|scrotal fordyce-type angiokeratoma|fordyce-type angiokeratoma of scrotum|angiokeratoma of fordyce NCIT:C7752|SCTID:735082004 owl:Class UBERON:0035847 biolink:NamedThing fibrocartilage enthesis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015435 biolink:NamedThing ring chromosome 19 Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported. tmpaxzxjjyw_mondo_relaxed.owl chromosome 19 ring|Ring chromosome type 19|R19|Ring 19|Ring chromosome 19 syndrome ICD10:Q93.2|Orphanet:1443|GARD:0001333|MESH:C538310|SCTID:765484001|UMLS:CN036553 https://rarediseases.info.nih.gov/diseases/1333/ring-chromosome-19 owl:Class MONDO:0010633 biolink:NamedThing iris hypoplasia with glaucoma tmpaxzxjjyw_mondo_relaxed.owl IHG|iris hypoplasia and glaucoma|iris hypoplasia with glaucoma OMIM:308500|UMLS:C1839928|MESH:C535538|GARD:0009171 https://rarediseases.info.nih.gov/diseases/9171/iris-hypoplasia-and-glaucoma owl:Class MONDO:0012507 biolink:NamedThing retinal cone dystrophy 4 Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene. tmpaxzxjjyw_mondo_relaxed.owl RCD4|cone dystrophy caused by mutation in CACNA2D4|retinal cone dystrophy 4|CACNA2D4 cone dystrophy|retinal cone dystrophy type 4 MESH:C566470|GARD:0010650|UMLS:C1864849|OMIM:610478 https://rarediseases.info.nih.gov/diseases/10650/retinal-cone-dystrophy-4 owl:Class MONDO:0009611 biolink:NamedThing 3-methylglutaconic aciduria type 4 3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III). tmpaxzxjjyw_mondo_relaxed.owl Mga, type 4|3-methylglutaconic aciduria type IV|MGA type IV|3 alpha methylglutaconic aciduria type IV|3-METHYLGLUTACONIC aciduria, type IV|MGA4|3-Methylglutaconic aciduria, type 4|MGCA4|3 methylglutaconic aciduria type IV|Not otherwise specified 3-MGA-Uria type Orphanet:67048|SCTID:297233004|UMLS:C0574085|OMIM:250951|DOID:0110006|ICD10:E71.1|UMLS:C1855126|MESH:C565393|GARD:0010342 https://rarediseases.info.nih.gov/diseases/10342/not-otherwise-specified-3-mga-uria-type owl:Class CHEBI:6067 biolink:NamedThing isotretinoin A retinoic acid that is all-trans-retinoic acid in which the double bond which is alpha,beta- to the carboxy group is isomerised to Z configuration. A synthetic retinoid, it is used for the treatment of severe cases of acne and other skin diseases. tmpaxzxjjyw_mondo_relaxed.owl (7E,9E,11E,13Z)-retinoic acid|isotretinoino|isotretinoin|13-RA|cis-RA|13-cis-Vitamin A acid|isotretinoina|Claravis|(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid|Neovitamin A acid|Amnesteem|Accutane|13-cis-retinoic acid|isotretinoinum|isotretinoine owl:Class GO:0061337 biolink:NamedThing cardiac conduction Transfer of an organized electrical impulse across the heart to coordinate the contraction of cardiac muscles. The process begins with generation of an action potential (in the sinoatrial node (SA) in humans) and ends with a change in the rate, frequency, or extent of the contraction of the heart muscles. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018055 biolink:NamedThing pediatric hepatocellular carcinoma Pediatric hepatocellular carcinoma (pediatric HCC) is a rare, aggressive, malignant hepatic tumor that develops mainly in children over 10 years of age. tmpaxzxjjyw_mondo_relaxed.owl childhood-onset hepatocellular carcinoma|hepatocellular cancer|childhood hepatocellular carcinoma|childhood liver cell carcinoma|childhood carcinoma of liver cell|childhood carcinoma of the liver cell|childhood hepatoma|Pediatric carcinoma of the liver cell|childhood-onset HCC|pediatric liver cell carcinoma|pediatric hepatoma|pediatric carcinoma of liver cell|pediatric HCC DOID:0070322|GARD:0009331|Orphanet:33402|NCIT:C7955|UMLS:CN204349|ICD10:C22.0 owl:Class MONDO:0010091 biolink:NamedThing Cold-induced sweating syndrome 1 Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. tmpaxzxjjyw_mondo_relaxed.owl Crisponi syndrome|muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death|cold-induced sweating syndrome 1|Sohar-Crisponi syndrome|CISS1|Crisponi/cold-induced sweating syndrome 1|CRISPONI/cold-induced sweating syndrome 1|cold-induced sweating syndrome type 1 Orphanet:157820|DOID:0080329|OMIM:272430|GARD:0001611|ICD10:G90.8|Orphanet:1545|MESH:C536214|SCTID:725097006 owl:Class HGNC:7497 biolink:NamedThing MT-TS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012292 biolink:NamedThing hepatitis C virus, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl Hepatitis C Virus infection, response to therapy of|HCV, susceptibility to|hepatitis C virus, susceptibility to|HCV, resistance to|Hepatitis C Virus, resistance to OMIM:609532|UMLS:C2750389 owl:Class NCBITaxon:11266 biolink:NamedThing Filoviridae tmpaxzxjjyw_mondo_relaxed.owl Filovirus GC_ID:1 NCBITaxon:11267 ncbi_taxonomy owl:Class GO:0002445 biolink:NamedThing type II hypersensitivity An inflammatory response resulting in cell death or dysfunction mediated by activation of the classical complement pathway or induction of effector cell phagocytosis, cytolysis mechanisms via complement or Fc receptors following the binding of antibodies to cell surface antigens on a target cell, or mediated by the direct binding of antibody to cellular receptors. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022972 biolink:NamedThing diabetic mastopathy Diabetic mastopathy are noncancerous lesions in the breast most commonly diagnosed in premenopausal women with type 1 diabetes. The cause of this condition is unknown. Symptoms may include hard, irregular, easily movable, discrete, painless breast mass(es). tmpaxzxjjyw_mondo_relaxed.owl lymphocytic mastitis|lymphocytic mastopathy|diabetic fibrous breast disease|diabetic fibrous mastopathy|sclerosing lymphocytic lobulitis GARD:0008322|MESH:C537524|SCTID:724136006 https://rarediseases.info.nih.gov/diseases/8322/diabetic-mastopathy owl:Class MONDO:0004001 biolink:NamedThing compartment syndrome Elevated pressure in a confined space enclosed by fascia or eschar, which may lead to vascular compromise and subsequent ischemic injury to the tissue within the space. tmpaxzxjjyw_mondo_relaxed.owl compartmental syndrome|compartment syndrome NCIT:C118422|MESH:D003161|GARD:0006141|DOID:682|UMLS:C0009492|ICD9:958.8|SCTID:111245009|ICD9:958.90|ICD10:T79.A0 https://rarediseases.info.nih.gov/diseases/6141/compartment-syndrome owl:Class GO:0016879 biolink:NamedThing ligase activity, forming carbon-nitrogen bonds Catalysis of the joining of two molecules, or two groups within a single molecule, via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpaxzxjjyw_mondo_relaxed.owl other carbon-nitrogen ligase activity owl:Class GO:0045654 biolink:NamedThing positive regulation of megakaryocyte differentiation Any process that activates or increases the frequency, rate or extent of megakaryocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl stimulation of megakaryocyte differentiation|up regulation of megakaryocyte differentiation|activation of megakaryocyte differentiation|up-regulation of megakaryocyte differentiation|upregulation of megakaryocyte differentiation owl:Class UBERON:0009503 biolink:NamedThing mesenchyme of hindgut tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016294 biolink:NamedThing Hirschsprung disease-type D brachydactyly syndrome Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out. tmpaxzxjjyw_mondo_relaxed.owl Hirschsprung disease type d brachydactyly|familial Hirschsprung's disease and type D brachydactyly|Hirschsprung disease with type D brachydactyly|Hirschsprung disease with type d brachydactyly ICD10:Q43.1|Orphanet:2150|GARD:0002700|MESH:C538319|UMLS:C1844017|OMIM:306980 owl:Class MONDO:0011384 biolink:NamedThing hypertension, essential, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl Hyt1|hypertension, essential, susceptibility to, type 1|hypertension, essential, susceptibility to, 1 OMIM:603918 owl:Class GO:0045670 biolink:NamedThing regulation of osteoclast differentiation Any process that modulates the frequency, rate or extent of osteoclast differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030356 biolink:NamedThing short-rib thoracic dysplasia 21 without polydactyly tmpaxzxjjyw_mondo_relaxed.owl short-rib thoracic dysplasia 21 without polydactyly|SRTD21 OMIM:619479 owl:Class MONDO:0020137 biolink:NamedThing frontotemporal degeneration with dementia tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98535|ICD10:G31.0 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurodegenerative disease' MONDO_0005559 owl:Class UBERON:0004554 biolink:NamedThing hindlimb digital artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14255 biolink:NamedThing BRPF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:34016 biolink:NamedThing RNU4ATAC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003499 biolink:NamedThing sarcomatoid squamous cell skin carcinoma A squamous cell carcinoma of the skin with a prominent spindle cell component. tmpaxzxjjyw_mondo_relaxed.owl spindle cell squamous carcinoma of skin|spindle cell squamous cell carcinoma|spindle cell (sarcomatoid) squamous cell carcinoma|spindle cell squamous carcinoma of the skin|spindle cell (sarcomatoid) squamous cell skin carcinoma SCTID:254653005|DOID:5536|UMLS:C0349656|NCIT:C4666 owl:Class MONDO:0018495 biolink:NamedThing X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome is a rare genetic neurometabolic disease characterized by severe intellectual disability, spastic quadraparesis, Leber´s congenital amaurosis and diabetes insipidus. Additional manifestations include facial dysmorphy (dolichocephalic skull, hypertelorism, deep-set eyes, hypoplastic nares, low-set ears), short stature, truncal hypotonia and axial hypertonia. Brain anomalies (e.g. thin corpus callosum with lack of isthmus and tapered splenium, hypoplasia or atrophy of the optic chiasm, prominent lateral ventricles, diminished white matter), described on magnetic resonance imaging, have been reported. High prenatal α-fetoprotein and intrauterine growth restriction is observed in routine pregnancy examination. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E79.8|UMLS:CN237501|Orphanet:423479 owl:Class NCBITaxon:37104 biolink:NamedThing Trichomonadida tmpaxzxjjyw_mondo_relaxed.owl trichomonads GC_ID:1|PMID:20093080 ncbi_taxonomy owl:Class HGNC:8101 biolink:NamedThing OCA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060659 biolink:NamedThing neurodevelopmental disorder with poor language and loss of hand skills tmpaxzxjjyw_mondo_relaxed.owl NDPLHS|neurodevelopmental disorder with poor language and loss of hand skills OMIM:617903 owl:Class MONDO:0013080 biolink:NamedThing primary biliary cholangitis 3 tmpaxzxjjyw_mondo_relaxed.owl biliary cirrhosis, primary, 3|PBC3 OMIM:613008|UMLS:C2751695|MESH:C567816|Orphanet:186 owl:Class HGNC:3395 biolink:NamedThing EPHB4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001931 biolink:NamedThing Hypochromic anemia A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. tmpaxzxjjyw_mondo_relaxed.owl Hypochromic anaemia UMLS:C0002884|MSH:D000747|SNOMEDCT_US:44452003 The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). human_phenotype owl:Class MONDO:0008316 biolink:NamedThing thrombophilia due to protein C deficiency, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl THPH3|thrombophilia due to protein C deficiency, autosomal dominant|Proc deficiency, autosomal dominant|Protein C deficiency, acquired|Protein C deficiency, autosomal dominant|thrombophilia due to PROTEIN C deficiency, autosomal dominant Orphanet:745|OMIM:176860 owl:Class MONDO:0010752 biolink:NamedThing VACTERL association, X-linked, with or without hydrocephalus tmpaxzxjjyw_mondo_relaxed.owl VACTERL association with hydrocephaly, X-linked|X-linked VACTERL-H syndrome|VACTERLX|VACTERL association, X-linked, with or without hydrocephalus|VACTERL-H, X-linked DOID:0111766|Orphanet:3412|GARD:0008498|UMLS:C2931228|OMIM:314390 owl:Class HGNC:691 biolink:NamedThing PHOX2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018605 biolink:NamedThing disorders of pentose/polyol metabolism tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237637|Orphanet:440701 owl:Class CHEBI:29101 biolink:NamedThing sodium(1+) A monoatomic monocation obtained from sodium. tmpaxzxjjyw_mondo_relaxed.owl Na+|sodium(1+) ion|sodium(I) cation|SODIUM ION|sodium cation|sodium(1+)|Na(+) owl:Class CHEBI:33504 biolink:NamedThing alkali metal cation tmpaxzxjjyw_mondo_relaxed.owl alkali metal cations owl:Class MONDO:0017388 biolink:NamedThing celiac trunk compression syndrome tmpaxzxjjyw_mondo_relaxed.owl Dunbar syndrome UMLS:CN203119|Orphanet:293208|ICD10:I77.4 owl:Class CHEBI:48360 biolink:NamedThing amphiprotic solvent Self-ionizing solvent possessing both characteristics of Bronsted acids and bases. tmpaxzxjjyw_mondo_relaxed.owl amphiprotic solvent owl:Class UBERON:0016538 biolink:NamedThing temporal cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001238 biolink:NamedThing polycythemia neonatorum A condition in which the red blood cell level is greater than established reference ranges in a newborn. tmpaxzxjjyw_mondo_relaxed.owl neonatal polycythemia|polycythemia of the newborn|polycythemia neonatorum|plethora of newborn ICD9:776.4|ICD10:P61.1|NCIT:C27069|SCTID:32984002|UMLS:C0272153|DOID:11242 owl:Class MONDO:0005571 biolink:NamedThing polycythemia Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. tmpaxzxjjyw_mondo_relaxed.owl polycythemia (disease)|polycythemia|erythrocythemia polycythemia (disease) UMLS:C0032461|NCIT:C26863|HP:0001901|DOID:8432|ICD10:D75.1|MedDRA:10036051|MESH:D011086|EFO:0005804|Orphanet:98427 owl:Class CL:0002616 biolink:NamedThing perirenal adipocyte cell A fat cell of perirenal fat tissue. tmpaxzxjjyw_mondo_relaxed.owl perirenal fat cell tmeehan 2011-03-14T10:17:05Z cell owl:Class MONDO:0013283 biolink:NamedThing immunodeficiency, common variable, 3 tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency, common variable, 3|CVID3|immunodeficiency, common variable, type 3|antibody deficiency due to CD19 defect UMLS:C3150738|Orphanet:1572|OMIM:613493 owl:Class MONDO:0021309 biolink:NamedThing malignant neoplasm of endocervix A cancer that involves the endocervix. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of uterine endocervix|malignant tumor of the uterine endocervix|malignant neoplasm of the uterine endocervix|malignant endocervix neoplasm|malignant uterine endocervix tumor|malignant tumor of uterine endocervix|malignant endocervix tumor|malignant tumor of endocervix|malignant neoplasm of the endocervix|endocervix cancer|malignant endocervical neoplasm|malignant tumor of the endocervix|malignant uterine endocervix neoplasm|malignant neoplasm of endocervix|malignant endocervical tumor|cancer of endocervix ICD9:180.0|NCIT:C3553|SCTID:372097009|ICD10:C53.0 owl:Class GO:0014706 biolink:NamedThing striated muscle tissue development The process whose specific outcome is the progression of a striated muscle over time, from its formation to the mature structure. Striated muscle contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. Skeletal muscle myoblasts fuse to form myotubes and eventually multinucleated muscle fibers. The fusion of cardiac cells is very rare and can only form binucleate cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042493 biolink:NamedThing response to drug Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. tmpaxzxjjyw_mondo_relaxed.owl drug susceptibility/resistance|drug resistance owl:Class HGNC:12633 biolink:NamedThing USP9Y tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4913 biolink:NamedThing HIP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032937 biolink:NamedThing myopathy, congenital proximal, with minicore lesions tmpaxzxjjyw_mondo_relaxed.owl MYOPMIL|MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS OMIM:618823 owl:Class GO:1902653 biolink:NamedThing secondary alcohol biosynthetic process The chemical reactions and pathways resulting in the formation of secondary alcohol. tmpaxzxjjyw_mondo_relaxed.owl secondary alcohol formation|secondary alcohol synthesis|secondary alcohol anabolism|secondary alcohol biosynthesis owl:Class GO:1902652 biolink:NamedThing secondary alcohol metabolic process The chemical reactions and pathways involving secondary alcohol. tmpaxzxjjyw_mondo_relaxed.owl secondary alcohol metabolism owl:Class MONDO:0022587 biolink:NamedThing bone dysplasia corpus callosum agenesis tmpaxzxjjyw_mondo_relaxed.owl GARD:0000921 https://rarediseases.info.nih.gov/diseases/921/bone-dysplasia-corpus-callosum-agenesis owl:Class MONDO:0004871 biolink:NamedThing perianal hematoma tmpaxzxjjyw_mondo_relaxed.owl Thrombosed external hemorrhoids|external thrombosed haemorrhoids SCTID:26373009|DOID:9745|ICD9:455.4|ICD10:K64.5 owl:Class MONDO:0004872 biolink:NamedThing hemorrhoid Dilated veins in the anal canal. tmpaxzxjjyw_mondo_relaxed.owl hemorrhoid|hemorrhoidal disease|Hemorrhoids MESH:D006484|UMLS:C0019112|SCTID:70153002|ICD9:455|NCIT:C26792|ICD10:K64|ICD9:455.8|DOID:9746 owl:Class MONDO:0002993 biolink:NamedThing pancreatic somatostatinoma A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss. tmpaxzxjjyw_mondo_relaxed.owl pancreatic somatostatin cell tumor|pancreatic delta cell somatostatin producing neoplasm EFO:1001964|UMLS:C1368041|DOID:4432|NCIT:C95595 owl:Class GO:0002757 biolink:NamedThing immune response-activating signal transduction The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to activation or perpetuation of an immune response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007293 biolink:NamedThing leukocyte adhesion deficiency 1 Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD characterized by life-threatening, recurrent bacterial infections. tmpaxzxjjyw_mondo_relaxed.owl lymphocyte function-associated antigen 1 immunodeficiency|leukocyte adhesion deficiency 1|leukocyte adhesion deficiency, type 1|LFA1 immunodeficiency|LAD1|leukocyte adhesion deficiency, type I|Lfa1 immunodeficiency|LFA 1 immunodeficiency|lad|leukocyte adhesion deficiency type 1|Lad1|leukocyte adhesion deficiency caused by mutation in ITGB2|ITGB2 leukocyte adhesion deficiency|lad 1|leukocyte adhesion deficiency type I|LFA-I deficiency|lad-type I|lad-I GARD:0006893|DOID:0110910|Orphanet:2968|SCTID:234582006|ICD10:D84.8|OMIM:116920|Orphanet:99842|MESH:C535887|NCIT:C4689|UMLS:C0398738 owl:Class MONDO:0009736 biolink:NamedThing Neu-Laxova syndrome 1 Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene. tmpaxzxjjyw_mondo_relaxed.owl Neu-Laxova syndrome 1|Neu-Laxova syndrome caused by mutation in PHGDH|Neu-Laxova syndrome|3-Phosphoglycerate dehydrogenase deficiency, neonatal form|Neu-Laxova syndrome type 1|PHGDH Neu-Laxova syndrome|NLS1 MESH:C536405|DOID:0080076|UMLS:CN032230|UMLS:C0265218|OMIM:256520|OMIM:616038|ICD10:Q87.8 owl:Class UBERON:0035073 biolink:NamedThing duct of eccrine sweat gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000812 biolink:NamedThing Abnormal internal genitalia An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). tmpaxzxjjyw_mondo_relaxed.owl Abnormal internal genitalia UMLS:C4025824 human_phenotype owl:Class MONDO:0009468 biolink:NamedThing pseudotumor cerebri Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible. tmpaxzxjjyw_mondo_relaxed.owl benign intracran. hypt.|IIH|intracranial hypertension, idiopathic|pseudotumor cerebri|idiopathic intracranial hypertension|benign intracranial hypertension ICD9:348.2|MESH:D011559|UMLS:C0033845|ICD10:G93.2|DOID:11459|SCTID:68267002|GARD:0004561|NCIT:C85035|MedDRA:10037149|EFO:1001132|OMIM:243200|Orphanet:238624 https://rarediseases.info.nih.gov/diseases/4561/pseudotumor-cerebri owl:Class MONDO:0003771 biolink:NamedThing jugular foramen meningioma A meningioma that affects the jugular foramen. tmpaxzxjjyw_mondo_relaxed.owl meningioma of jugular Foramen|jugular foramen meningioma (disease)|meningioma of the jugular Foramen|meningioma (disease) of jugular foramen UMLS:C1334298|DOID:6110|NCIT:C5293 owl:Class MONDO:0001710 biolink:NamedThing perforation of bile duct A rupture in the wall of the extrahepatic or intrahepatic bile duct due to traumatic or pathologic processes. tmpaxzxjjyw_mondo_relaxed.owl SCTID:37439003|NCIT:C78528|DOID:13409|ICD9:576.3|UMLS:C0156218|ICD10:K83.2 owl:Class UBERON:0005357 biolink:NamedThing brain ependyma tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:176841 biolink:NamedThing vitamin B7 Any member of a group of vitamers that belong to the chemical structural class called biotins that exhibit biological activity against vitamin B7 deficiency. Vitamin B7 deficiency is very rare in individuals who take a normal balanced diet. Foods rich in biotin are egg yolk, liver, cereals, vegetables (spinach, mushrooms) and rice. Symptoms associated with vitamin B7 deficiency include thinning hair, scaly skin rashes around eyes, nose and mouth, and brittle nails. The vitamers include biotin and its ionized and salt forms. tmpaxzxjjyw_mondo_relaxed.owl vitamin B7 vitamer|vitamins B7|vitamin B7|vitamin B-7|vitamin B7 vitamers owl:Class MONDO:0023167 biolink:NamedThing focal alopecia congenital megalencephaly tmpaxzxjjyw_mondo_relaxed.owl GARD:0002349 https://rarediseases.info.nih.gov/diseases/2349/focal-alopecia-congenital-megalencephaly owl:Class MONDO:0029136 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal recessive 23 tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, limb-girdle, autosomal recessive 23|LGMDR23|laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 OMIM:618138|Orphanet:565837 owl:Class MONDO:0010155 biolink:NamedThing Dorfman-Chanarin disease tmpaxzxjjyw_mondo_relaxed.owl ichthyotic neutral Lipid storage disease|NLSDI|neutral Lipid storage disease with ichthyosis|Dorfman Chanarin syndrome|Chanarin-Dorfman syndrome|CDS|Chanarin-Dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|triglyceride storage disease with impaired long-chain fatty acid oxidation|disorder of cornification 12 (neutral lipid storage type)|DCs|neutral lipid storage disease with ichthyosis|neutral lipid storage disease with ichthyotic|Dorfman-Chanarin syndrome GARD:0003979|SCTID:19604005|OMIM:275630|Orphanet:98907|ICD10:E75.5 owl:Class GO:0046835 biolink:NamedThing carbohydrate phosphorylation The process of introducing a phosphate group into a carbohydrate, any organic compound based on the general formula Cx(H2O)y. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006866 biolink:NamedThing neonatal myasthenia gravis A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4) tmpaxzxjjyw_mondo_relaxed.owl neonatal myasthenia gravis DOID:14043|MESH:D020941|SCTID:82178003|MedDRA:10028963|EFO:1001059|ICD9:775.2 owl:Class ENVO:01000060 biolink:NamedThing particulate matter Particulate material is an environmental material which is composed of microscopic portions of solid or liquid material suspended in another environmental material. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0033062 biolink:NamedThing Abnormal factor IX activity Abnormal activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. tmpaxzxjjyw_mondo_relaxed.owl peter human_phenotype owl:Class HGNC:10024 biolink:NamedThing RLBP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002827 biolink:NamedThing vestibulocochlear ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015160 biolink:NamedThing multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome|MCA/variable MR Orphanet:102284 owl:Class CHEBI:22506 biolink:NamedThing aminoglycan tmpaxzxjjyw_mondo_relaxed.owl aminoglycans owl:Class HGNC:2718 biolink:NamedThing DDB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010451 biolink:NamedThing intellectual disability, X-linked 41 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked type 41|intellectual disability, X-linked 48|intellectual disability, X-linked type 41|mental retardation, X-linked 48|non-syndromic X-linked intellectual disability caused by mutation in GDI1|MRX41|mental retardation, X-linked 41|intellectual disability, X-linked 41|GDI1 non-syndromic X-linked intellectual disability OMIM:300849|UMLS:C3887939 owl:Class MONDO:0005710 biolink:NamedThing composite lymphoma Coexistence of Hodgkin and non-Hodgkin lymphoma in the same anatomic site. tmpaxzxjjyw_mondo_relaxed.owl composite lymphoma|composite Hodgkin and non-Hodgkin lymphoma UMLS:C1266191|MESH:D058617|ICDO:9596/3|DOID:5820|NCIT:C38661|EFO:0007215|UMLS:C0545080|Orphanet:168966 owl:Class MONDO:0004214 biolink:NamedThing ovarian endometrioid cystadenofibroma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells in a fibrotic stroma. tmpaxzxjjyw_mondo_relaxed.owl ovarian endometrioid cystadenofibroma DOID:7411|UMLS:C1335158|NCIT:C27288 owl:Class MONDO:0012502 biolink:NamedThing normophosphatemic familial tumoral calcinosis tmpaxzxjjyw_mondo_relaxed.owl normophosphatemic familial tumoral calcinosis|calcinosis, tumoral, with Normophosphatemia|NFTC|tumoral calcinosis, normophosphatemic, familial|familial normophosphatemic tumoral calcinosis Orphanet:53715|GARD:0010878|ICD10:M11.2|DOID:0080170|MESH:C566473|OMIM:610455|Orphanet:306658 https://rarediseases.info.nih.gov/diseases/10878/normophosphatemic-familial-tumoral-calcinosis owl:Class HGNC:4454 biolink:NamedThing GPC6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045191 biolink:NamedThing regulation of isotype switching Any process that modulates the frequency, rate or extent of isotype switching. tmpaxzxjjyw_mondo_relaxed.owl regulation of class switch recombination|regulation of class switching|regulation of isotype switch recombination owl:Class MONDO:0012478 biolink:NamedThing orofacial cleft 9 tmpaxzxjjyw_mondo_relaxed.owl orofacial cleft 9|OFC9|cleft lip with or without cleft palate, nonsyndromic, 9 Orphanet:1991|MESH:C563675|UMLS:C1835894|OMIM:610361|DOID:0080402 owl:Class GO:0033144 biolink:NamedThing negative regulation of intracellular steroid hormone receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of steroid hormone receptor signaling pathway|negative regulation of steroid hormone receptor signalling pathway owl:Class MONDO:0001855 biolink:NamedThing rubeosis iridis tmpaxzxjjyw_mondo_relaxed.owl ICD10:H21.1|DOID:14000|ICD9:364.42|SCTID:51995000|UMLS:C0154916 owl:Class MONDO:0014576 biolink:NamedThing lipoyl transferase 1 deficiency tmpaxzxjjyw_mondo_relaxed.owl lipoyltransferase 1 deficiency|LIPT1D OMIM:616299|ICD10:E88.8|UMLS:C4225379|Orphanet:401862 owl:Class MONDO:0015681 biolink:NamedThing childhood disintegrative disorder Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia. tmpaxzxjjyw_mondo_relaxed.owl heller syndrome|dementia infantilis UMLS:CN072151|UMLS:C0236791|SCTID:71961003|GARD:0006040|Orphanet:168782|MedDRA:10008522|NCIT:C97164|ICD10:F84.3 https://rarediseases.info.nih.gov/diseases/6040/childhood-disintegrative-disorder owl:Class MONDO:0018001 biolink:NamedThing inverse Klippel-Trenaunay syndrome tmpaxzxjjyw_mondo_relaxed.owl inverse Klippel-Trénaunay syndrome|cutaneous hemangioma with muscle or bone atrophy UMLS:CN204209|ICD10:Q87.2|Orphanet:329324 owl:Class MONDO:0001791 biolink:NamedThing neonatal urinary tract infectious disease tmpaxzxjjyw_mondo_relaxed.owl urinary tract infection of newborn UMLS:C0235815|ICD10:P39.3|SCTID:12301009|ICD9:771.82|DOID:1375 owl:Class MONDO:0019883 biolink:NamedThing distal trisomy 9q Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (incl. micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (incl. arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed. tmpaxzxjjyw_mondo_relaxed.owl trisomy 9qter|telomeric duplication 9q|distal trisomy type 9q|distal duplication 9q Orphanet:96101|SCTID:764520001|ICD10:Q92.3 owl:Class GO:0002718 biolink:NamedThing regulation of cytokine production involved in immune response Any process that modulates the frequency, rate, or extent of cytokine production that contributes to an immune response. tmpaxzxjjyw_mondo_relaxed.owl regulation of cytokine secretion involved in immune response|regulation of cytokine production during immune response|regulation of cytokine biosynthetic process involved in immune response owl:Class MONDO:0001614 biolink:NamedThing intra-abdominal lymph node mast cell malignancy tmpaxzxjjyw_mondo_relaxed.owl malignant mast cell tumors involving intra-abdominal lymph nodes|mast cell malignancy of intra-abdominal lymph nodes ICD9:202.63|DOID:13005|SCTID:188664008|UMLS:C0153844 owl:Class MONDO:0010523 biolink:NamedThing X-linked reticulate pigmentary disorder X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. tmpaxzxjjyw_mondo_relaxed.owl pigmentary disorder, reticulate, with systemic manifestations, X-linked|XLPDR|PDR|pigmentary disorder, reticulate, with systemic manifestations|amyloidosis, familial cutaneous|X-linked cutaneous amyloidosis|familial cutaneous amyloidosis|Partington disease SCTID:717224002|OMIM:301220|MESH:C564461|ICD10:L99.0*|ICD10:E85.0+|Orphanet:85453 owl:Class CL:1000143 biolink:NamedThing lung goblet cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011767 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 31 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in WHRN|autosomal recessive nonsyndromic deafness type 31|autosomal recessive deafness 31|deafness, autosomal recessive 31|DFNB31|WHRN autosomal recessive nonsyndromic deafness|whirler, mouse, homolog of|autosomal recessive nonsyndromic deafness 31|deafness, autosomal recessive type 31 ICD10:H90.3|UMLS:C1846839|DOID:0110490|MESH:C564629|OMIM:607084 owl:Class UBERON:0002409 biolink:NamedThing pericardial fluid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001016 biolink:NamedThing epididymis cancer A primary or metastatic malignant neoplasm that affects the epididymis. Representative examples include primary epididymal adenocarcinoma and metastatic carcinoma to the epididymis arising from another anatomic site. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the epididymis|malignant tumor of epididymis|malignant neoplasm of epididymis|malignant epididymal neoplasm|malignant tumor of the epididymis|epididymis cancer|cancer of epididymis|malignant epididymal tumor|malignant epididymis neoplasm DOID:10366|SCTID:363452003|NCIT:C3558|UMLS:C0153602|ICD9:187.5|ICD10:C63.0 owl:Class MONDO:0015649 biolink:NamedThing micturation-induced seizures Micturition-induced seizures is a rare neurologic disease characterized by tonic posturing or clonic movements triggered by micturition, with bilateral or unilateral involvement of the extremities and with or without loss of consciousness. Developmental delay is reported in some cases. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:166430|ICD10:G40.8|UMLS:CN200059 owl:Class MONDO:0013173 biolink:NamedThing intellectual disability, autosomal recessive 13 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene. tmpaxzxjjyw_mondo_relaxed.owl TRAPPC9 autosomal recessive non-syndromic intellectual disability|MRT13|intellectual disability, autosomal recessive 13|mental retardation, autosomal recessive type 13|intellectual disability, autosomal recessive type 13|autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9|mental retardation, autosomal recessive 13 MESH:C567714|OMIM:613192|UMLS:C2750791 owl:Class UBERON:0002514 biolink:NamedThing intramembranous bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017299 biolink:NamedThing acute annular outer retinopathy tmpaxzxjjyw_mondo_relaxed.owl AAOR Orphanet:284460 owl:Class MONDO:0014893 biolink:NamedThing Okur-Chung neurodevelopmental syndrome tmpaxzxjjyw_mondo_relaxed.owl OCNDS|Okur-Chung neurodevelopmental syndrome; OCNDS|Okur-Chung neurodevelopmental syndrome OMIM:617062|UMLS:C4310739 owl:Class NCBITaxon:694017 biolink:NamedThing Torovirinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012037 biolink:NamedThing intellectual disability, autosomal recessive 3 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 3|MRT3|mental retardation, autosomal recessive type 3|intellectual disability, autosomal recessive type 3|autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A|CC2D1A autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 3 OMIM:608443|MESH:C563929|UMLS:C1838023|Orphanet:88616 owl:Class MONDO:0017921 biolink:NamedThing hearing loss-familial salivary gland insensitivity to aldosterone syndrome Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Tunglang savage Bellman syndrome|hearing loss and familial salivary gland insensitivity to aldosterone|hearing loss insensitivity to aldosterone|Tungland-Bellman syndrome SCTID:716239006|MESH:C536927|GARD:0000422|Orphanet:3225 owl:Class MONDO:0002976 biolink:NamedThing stomach diverticulosis A pathological condition characterized by the presence of a number of gastric diverticula in the stomach. tmpaxzxjjyw_mondo_relaxed.owl MESH:D045724|DOID:4370|UMLS:C1148546 owl:Class MONDO:0017992 biolink:NamedThing autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:329173|OMIM:615895|UMLS:CN237438 owl:Class MONDO:0011207 biolink:NamedThing xanthomatosis, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl xanthomatosis, susceptibility to Orphanet:391665|OMIM:602247|UMLS:C1865704 owl:Class MONDO:0012498 biolink:NamedThing congenital stationary night blindness autosomal dominant 1 Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene. tmpaxzxjjyw_mondo_relaxed.owl congenital stationary night blindness caused by mutation in RHO|rhodopsin-related congenital stationary night blindness|night blindness, congenital stationary, autosomal dominant 1|night blindness, congenital stationary, autosomal dominant type 1|RHO congenital stationary night blindness|CSNBAD1|night blindness, congenital stationary, rhodopsin-related|congenital stationary night blindness autosomal dominant type 1 UMLS:C1864869|DOID:0110862|OMIM:610445|MESH:C566474 owl:Class MONDO:0016089 biolink:NamedThing infantile Krabbe disease tmpaxzxjjyw_mondo_relaxed.owl Krabbe disease, classic form|Krabbe disease, early-onset Orphanet:206436|ICD10:E75.2|SCTID:238030005 owl:Class MONDO:0005650 biolink:NamedThing Arenaviridae infectious disease Virus diseases caused by the arenaviridae. tmpaxzxjjyw_mondo_relaxed.owl infection, Arenaviridae|arenavirus infections|arenavirus infection|infections, arenavirus|arenavirus infectious disease|disease due to arenavirus|disease caused by arenavirus|Arenaviridae caused disease or disorder|Arenaviridae disease or disorder|Arenaviridae infection|infections, Arenaviridae|infection, arenavirus ICD9:078.89|SCTID:3303004|EFO:0007150|DOID:3944|MESH:D001117 owl:Class CL:1000615 biolink:NamedThing kidney cortex tubule cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001024 cell owl:Class CL:2000012 biolink:NamedThing fibroblast of pedal digit skin Any skin fibroblast that is part of a pedal digit skin. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-04T15:16:44Z cell owl:Class MONDO:0013188 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene. tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3|CAMRQ3|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 3|CA8 dysequilibrium syndrome|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 3|dysequilibrium syndrome caused by mutation in CA8 UMLS:C2750509|OMIM:613227|Orphanet:1766|MESH:C567690 owl:Class HGNC:17382 biolink:NamedThing SRGAP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001878 biolink:NamedThing Hemolytic anemia A type of anemia caused by premature destruction of red blood cells (hemolysis). tmpaxzxjjyw_mondo_relaxed.owl Increased hemolysis|Hemolytic anaemia|Haemolytic anaemia MSH:D000743|SNOMEDCT_US:61261009|UMLS:C0002878 Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count. HP:0004853|HP:0004868|HP:0004827|HP:0005503|HP:0001910 human_phenotype owl:Class MONDO:0007565 biolink:NamedThing familial cylindromatosis tmpaxzxjjyw_mondo_relaxed.owl Ancell-Spiegler Cylindromas|CYLD|Ancell-Spiegler syndrome|Cylindromas, dermal eccrine|turban tumor syndrome|turban tumor|'turban tumor' syndrome|turban tumors|cylindromatosis, familial Orphanet:211|NCIT:C43352|OMIM:132700|Orphanet:79493|MESH:C536611|GARD:0009707 owl:Class UBERON:0006222 biolink:NamedThing future diencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032650 biolink:NamedThing neurodegeneration, childhood-onset, with cerebellar atrophy tmpaxzxjjyw_mondo_relaxed.owl CONDCA|NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY OMIM:618276 owl:Class MONDO:0018340 biolink:NamedThing hereditary isolated aplastic anemia tmpaxzxjjyw_mondo_relaxed.owl ICD10:D61.0|OMIM:616553|Orphanet:397692 owl:Class MONDO:0013342 biolink:NamedThing hereditary spastic paraplegia 48 Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spastic paraplegia type 48|SPG48|AP5Z1 hereditary spastic paraplegia|hereditary spastic paraplegia type 48|autosomal recessive spastic paraplegia 48|spastic paraplegia 48, autosomal recessive|hereditary spastic paraplegia caused by mutation in AP5Z1 DOID:0110800|Orphanet:306511|ICD10:G11.4|OMIM:613647|UMLS:C3150901|SCTID:763367009 owl:Class GO:0070075 biolink:NamedThing tear secretion The regulated release of the aqueous layer of the tear film from the lacrimal glands. Tears are the liquid product of a process of lacrimation to clean and lubricate the eyes. Tear fluid contains water, mucin, lipids, lysozyme, lactoferrin, lipocalin, lacritin, immunoglobulins, glucose, urea, sodium, and potassium. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000548 biolink:NamedThing animal cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0004559 biolink:NamedThing malignant glandular tumor of peripheral nerve sheath A variant of malignant peripheral nerve sheath tumor characterized by the presence of glandular epithelium. tmpaxzxjjyw_mondo_relaxed.owl malignant glandular tumor of peripheral nerve sheath|malignant glandular schwannoma|glandular malignant peripheral nerve sheath tumor|malignant glandular neoplasm of peripheral nerve sheath|malignant glandular neoplasm of the peripheral nerve sheath|glandular MPNST|malignant glandular peripheral nerve sheath neoplasm|malignant glandular peripheral nerve sheath tumor|malignant glandular tumor of the peripheral nerve sheath SCTID:699659007|UMLS:C1333821|ICD9:171.9|NCIT:C6560|DOID:8420 owl:Class MONDO:0020375 biolink:NamedThing coralliform cataract tmpaxzxjjyw_mondo_relaxed.owl OMIM:115800|Orphanet:98990|ICD10:Q12.0|UMLS:CN207246 owl:Class UBERON:0004236 biolink:NamedThing arteriole smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007684 biolink:NamedThing uriniferous tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051954 biolink:NamedThing positive regulation of amine transport Any process that activates, maintains or increases the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl stimulation of amine transport|up-regulation of amine transport|upregulation of amine transport|activation of amine transport|up regulation of amine transport owl:Class GO:0051952 biolink:NamedThing regulation of amine transport Any process that modulates the frequency, rate or extent of the directed movement of amines into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7704 biolink:NamedThing NDUFB9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011150 biolink:NamedThing acroosteolysis-keloid-like lesions-premature aging syndrome tmpaxzxjjyw_mondo_relaxed.owl prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly|premature aging syndrome Penttinen type|Penttinen-aula syndrome|PENTT|progeroid syndrome, Penttinen type|premature aging syndrome, Penttinen type GARD:0004498|ICD10:E34.8|Orphanet:363665|GARD:0004276|MESH:C536653|UMLS:C1866182|OMIM:601812 owl:Class MONDO:0015756 biolink:NamedThing myeloid hemopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:171895 owl:Class MONDO:0012793 biolink:NamedThing hypouricemia, renal, 2 tmpaxzxjjyw_mondo_relaxed.owl gout susceptibility 2|uric acid concentration, serum, quantitative trait locus 2|hypouricemia, renal, 2|RHUC2|hypouricemia, renal, type 2 MESH:C567426|Orphanet:94088|OMIM:612076|UMLS:C2677549 owl:Class HGNC:24200 biolink:NamedThing FAM111B tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:59869 biolink:NamedThing L-alpha-amino acid zwitterion Zwitterionic form of an L-alpha-amino acid having an anionic carboxy group and a protonated amino group. tmpaxzxjjyw_mondo_relaxed.owl an L-alpha-amino acid|L-alpha-amino acid zwitterions owl:Class MONDO:0002821 biolink:NamedThing trabecular follicular adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl trabecular follicular carcinoma|follicular adenocarcinoma, trabecular|follicular adenocarcinoma, trabecular (morphologic abnormality) UMLS:C0334327|DOID:3964 owl:Class MONDO:0017224 biolink:NamedThing Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD in some women carrying mutations in the PLP1 gene (Xq22). tmpaxzxjjyw_mondo_relaxed.owl ICD10:E75.2|UMLS:CN202706|Orphanet:280229 owl:Class MONDO:0003031 biolink:NamedThing endometrioid stromal and related neoplasms of the cervix A category of rare neoplasms that arise from the cervix. It includes low grade endometrioid stromal sarcoma and undifferentiated endocervical sarcoma. tmpaxzxjjyw_mondo_relaxed.owl cervix endometrial stromal tumor|endometrioid stromal and related tumors of the cervix|endometrioid stromal and related neoplasms of the cervix UMLS:C4289586|DOID:4521|NCIT:C40218 owl:Class UBERON:2002067 biolink:NamedThing upper hypural set tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024285 biolink:NamedThing epsilon-heavy chain disease tmpaxzxjjyw_mondo_relaxed.owl IgE heavy chain disease ICD9:273.2|UMLS:C0272254|SCTID:60620005 owl:Class MONDO:0016829 biolink:NamedThing familial visceral myopathy A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n. tmpaxzxjjyw_mondo_relaxed.owl familial hollow visceral myopathy|hereditary hollow visceral myopathy|pseudoobstruction idiopathic intestinal|megaduodenum and/or megacystis|visceral myopathy familial OMIM:155310|UMLS:C0266833|UMLS:CN202146|SCTID:63684002|UMLS:C1835084|ICD9:359.89|Orphanet:2604|ICD10:K56.0|GARD:0003443 owl:Class MONDO:0011858 biolink:NamedThing spastic paraplegia, ataxia, and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia, ataxia, and mental retardation|spastic paraplegia, ataxia, and intellectual disability|Spar MESH:C564378|UMLS:C1843661|OMIM:607565 owl:Class MONDO:0010567 biolink:NamedThing cone dystrophy, X-linked, with tapetal-like sheen tmpaxzxjjyw_mondo_relaxed.owl cone dystrophy X-linked with tapetal-like sheen|cone dystrophy, X-linked, with tapetal-like sheen|X-linked recessive cone dystrophy with tapetal-like sheen Orphanet:1871|GARD:0010119|MESH:C535975|UMLS:C1844775|OMIM:304030 https://rarediseases.info.nih.gov/diseases/10119/cone-dystrophy-x-linked-with-tapetal-like-sheen owl:Class MONDO:0008786 biolink:NamedThing pyridoxine-responsive sideroblastic anemia tmpaxzxjjyw_mondo_relaxed.owl anemia, sideroblastic, pyridoxine-responsive, autosomal recessive|B6-responsive sideroblastic anemia|sideroblastic anemia pyridoxine-responsive autosomal recessive|anemia congenital sideroblastic B6-responsive|anemia, congenital sideroblastic, B6-responsive GARD:0009872|UMLS:C1859787|MESH:C565954|SCTID:191260004|DOID:0060066|OMIM:206000|UMLS:C0272027 owl:Class MONDO:0030006 biolink:NamedThing combined oxidative phosphorylation deficiency 40 tmpaxzxjjyw_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40|combined oxidative phosphorylation deficiency 40|COXPD40 Orphanet:570491|OMIM:618835 owl:Class MONDO:0013692 biolink:NamedThing BAP1-related tumor predisposition syndrome BAP1-related tumor predisposition syndrome (TPDS) is an inherited cancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape. tmpaxzxjjyw_mondo_relaxed.owl tumor predisposition syndrome|tumor susceptibility linked to germline BAP1 mutations|BAP1-related tumor predisposition syndrome|BAP1 tumor predisposition syndrome|TPDS SCTID:765057007|UMLS:C3280492|OMIM:614327|Orphanet:289539|GARD:0013219 owl:Class MONDO:0001831 biolink:NamedThing irregular astigmatism tmpaxzxjjyw_mondo_relaxed.owl ICD9:367.22|SCTID:47099006|DOID:13919|ICD10:H52.21|UMLS:C0152194 owl:Class MONDO:0011284 biolink:NamedThing astigmatism Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl astigmatism|astigmatism (disease) astigmatism (disease) HP:0000483|CSP:1116-1831|ICD10:H52.2|ICD10:H52.20|DOID:11782|MESH:D001251|UMLS:C0004106|ICD9:367.20|ICD9:367.2|SCTID:82649003|OMIM:603047 owl:Class MONDO:0037807 biolink:NamedThing glycerol metabolism disease A disease that has its basis in the disruption of glycerol metabolic process. tmpaxzxjjyw_mondo_relaxed.owl glycerol metabolic process disease|disorder of glycerol metabolism|disorder of glycerol metabolic process SCTID:237977000|UMLS:C0342762 owl:Class GO:0140053 biolink:NamedThing mitochondrial gene expression The process in which a mitochondrial gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010223 biolink:NamedThing left pupil tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003668 biolink:NamedThing extragonadal seminoma tmpaxzxjjyw_mondo_relaxed.owl extragonadal primary seminoma|primary extragonadal seminoma|extragonadal seminoma NCIT:C7327|DOID:5838|UMLS:C1333502 owl:Class HGNC:317 biolink:NamedThing AFP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003651 biolink:NamedThing macrotrabecular hepatoblastoma A pure fetal or fetal and embryonal epithelial hepatoblastoma characterized by the presence of broad trabeculae. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7095|UMLS:C1334543|DOID:5798 owl:Class MONDO:0018666 biolink:NamedThing hepatoblastoma Hepatoblastoma (HB) is a malignant hepatic tumor and is the most common pediatric liver cancer. It is characterized by anorexia, weight loss and an enlarged abdomen. HB is more common in patients with familial adenomatous polyposis (FAP), and can occur in patients with other pre-existing liver conditions. About 5% of HB cases are associated with genetic factors, especially overgrowth syndromes, such as Beckwith-Wiedemann syndrome (BWS) or hemihypertrophy. tmpaxzxjjyw_mondo_relaxed.owl pediatric hepatoblastoma|hepatoblastoma, malignant|hepatoblastoma|HBL|pediatric embryonal hepatoma ICDO:8970/3|OMIM:114550|ICD10:C22.2|GARD:0002657|ONCOTREE:LIHB|Orphanet:449|EFO:1000292|UMLS:C0206624|MESH:D018197|NCIT:C3728|DOID:687|MedDRA:10062001 owl:Class MONDO:0012646 biolink:NamedThing glaucoma 1, open angle, H tmpaxzxjjyw_mondo_relaxed.owl GLC1H|glaucoma 1, open angle, H MESH:C566976|UMLS:C1969811|OMIM:611276 owl:Class MONDO:0030856 biolink:NamedThing developmental and epileptic encephalopathy 89 tmpaxzxjjyw_mondo_relaxed.owl developmental and epileptic encephalopathy 89|DEE89 OMIM:619124 owl:Class MONDO:0003065 biolink:NamedThing nasal cavity inverting papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl nasal cavity Schneiderian papilloma, inverted type|inverting papilloma of the nasal cavity|nasal cavity inverted papilloma|inverting papilloma of nasal cavity DOID:4633|UMLS:C0280336|NCIT:C8194 owl:Class MONDO:0004756 biolink:NamedThing nasal cavity neoplasm A benign or malignant neoplasm that affects the nasal cavity. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of nasal cavity|nasal cavity neoplasm (disease)|neoplasm of the nasal cavity|nasal cavity tumor|nasal cavity neoplasm|tumor of the nasal cavity|tumor of nasal cavity DOID:9310|NCIT:C4413|UMLS:C0345630|SCTID:126670003 owl:Class HGNC:6080 biolink:NamedThing INPPL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013851 biolink:NamedThing autosomal dominant aplasia and myelodysplasia tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant aplastic anemia and myelodysplasia|bone marrow failure syndrome 1|BMFS1|bone marrow failure syndrome type 1 Orphanet:314399|OMIM:614675|UMLS:CN203751|UMLS:C3808553|ICD10:D61.0 owl:Class MONDO:0017818 biolink:NamedThing lethal arteriopathy syndrome due to fibulin-4 deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:314718|UMLS:CN203788 owl:Class OBO:MFOMD_0000004 biolink:NamedThing mental disorder Clinically significant behavioural and/or cognitive pathology.|A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_2010_1_31:74732009|MSH:D001523|SNOMEDCT_2010_1_31:154972009|SNOMEDCT_2010_1_31:192637001|NCI:C2893|UMLS_CUI:C0004936|ICD9CM:290-319.99|SNOMEDCT_2010_1_31:154980002|SNOMEDCT_2010_1_31:154971002|SNOMEDCT_2010_1_31:154843007|SNOMEDCT_2010_1_31:192639003 While the ontology subscribes to the widely accepted theory that there is a biomedical basis for mental diseases, the standard descriptions of mental disorders focus solely on symptomatic descriptions. Therefore, we have classified the mental disorders beneath OGMS's 'disease course' via a parent class 'mental disease course' rather than classifying them as diseases. disease_ontology owl:Class MONDO:0012428 biolink:NamedThing kyphoscoliosis 1 tmpaxzxjjyw_mondo_relaxed.owl KYPSC1|kyphoscoliosis 1 MESH:C565711|UMLS:C1857795|OMIM:610170 owl:Class MONDO:0005671 biolink:NamedThing Blastocystis infectious disease Infections with organisms of the genus blastocystis. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in aids patients and other immunosuppressed patients (immunocompromised host). Symptoms include abdominal pain; diarrhea; constipation; vomiting; and fatigue. tmpaxzxjjyw_mondo_relaxed.owl Blastocystis infection|infection, Blastocystis|infections, Blastocystis SCTID:721809007|EFO:0007173|MESH:D016776 owl:Class MONDO:0003289 biolink:NamedThing deep leiomyoma A rare benign smooth muscle neoplasm arising from deep tissue. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl deep leiomyoma NCIT:C6512|UMLS:C1333266|DOID:5128 owl:Class GO:0070129 biolink:NamedThing regulation of mitochondrial translation Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl regulation of mitochondrial protein biosynthesis|regulation of mitochondrial protein formation|regulation of mitochondrial protein anabolism|regulation of mitochondrial protein synthesis owl:Class MONDO:0011245 biolink:NamedThing ichthyosis, hystrix-like, with hearing loss tmpaxzxjjyw_mondo_relaxed.owl ichthyosis, hystrix-like, with deafness|HID syndrome UMLS:C1865234|Orphanet:477|OMIM:602540|MESH:C566528 https://github.com/monarch-initiative/mondo/issues/551 owl:Class MONDO:0018781 biolink:NamedThing KID syndrome Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss. tmpaxzxjjyw_mondo_relaxed.owl Senter syndrome|keratitis, ichthyosis, and deafness (KID) syndrome|keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome|KID/HID syndrome|ichthyosis hystrix Rheydt type OMIMPS:148210|ICD10:Q80.8|MedDRA:10048786|UMLS:C0265336|Orphanet:477|GARD:0003113|ICD9:759.89|SCTID:2625009|OMIM:242150|UMLS:CN205136|OMIM:602540|OMIM:148210 Editor note: Orphanet classifies as both AD and AR owl:Class MONDO:0002202 biolink:NamedThing outlet dysfunction constipation tmpaxzxjjyw_mondo_relaxed.owl ICD9:564.02|DOID:2088|ICD10:K59.02 owl:Class MONDO:0032663 biolink:NamedThing developmental and epileptic encephalopathy, 70 tmpaxzxjjyw_mondo_relaxed.owl EIEE70|epileptic encephalopathy, early infantile, 70|DEE70|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 OMIM:618298 owl:Class MONDO:0004306 biolink:NamedThing childhood intracortical osteosarcoma A high grade malignant bone-forming mesenchymal neoplasm that produces osteoid and occurs in childhood. It arises from the medullary portion of the bone. It affects the long bones, and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. It usually has an aggressive growth and may metastasize through the hematogenous route. The lung is the most frequent site of metastasis. tmpaxzxjjyw_mondo_relaxed.owl childhood intracortical osteosarcoma|childhood conventional osteosarcoma UMLS:C1332974|NCIT:C6590|DOID:7612 owl:Class GO:0140537 biolink:NamedThing transcription regulator activator activity A molecular function regulator that increases the activity of a transcription regulator via direct binding and/or post-translational modification. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021879 biolink:NamedThing small cell variant anaplastic large cell lymphoma A histologic variant of anaplastic large cell lymphoma characterized by the presence of a predominant population of small to medium size malignant cells with irregular nuclei. tmpaxzxjjyw_mondo_relaxed.owl anaplastic small cell lymphoma|small cell variant anaplastic large cell lymphoma|small cell variant of anaplastic large cell lymphoma GARD:0009477|UMLS:C1335983|NCIT:C7208|MESH:C538255 https://rarediseases.info.nih.gov/diseases/9477/anaplastic-small-cell-lymphoma owl:Class MONDO:0001034 biolink:NamedThing marginal corneal ulcer tmpaxzxjjyw_mondo_relaxed.owl ICD10:H16.04|ICD9:370.01|SCTID:47398006|DOID:10441|UMLS:C0155067 owl:Class MONDO:0004577 biolink:NamedThing corneal ulcer Area of epithelial tissue loss from corneal surface; associated with inflammatory cells in the cornea and anterior chamber. tmpaxzxjjyw_mondo_relaxed.owl cornea ulcer disease|Ulcer, corneal|ulcer disease of cornea DOID:8463|NCIT:C50515|ICD9:370.0|ICD9:370.00|ICD10:H16.0|UMLS:C0010043|SCTID:91514001|HP:0200020|ICD10:H16.00|MESH:D003320 owl:Class MONDO:0017348 biolink:NamedThing lymphoepithelial-like carcinoma Lymphoepithelial-like carcinoma is a rare, malignant epithelial tumor, composed of undifferentiated epithelial cells with dense lymphoid stroma, mimicking lymphoepithelioma. It often shows association with Epstein-Barr virus infection and can develop in various organs, such as the nasopharynx, stomach, skin, breast and lungs, among others. The presenting symptoms, as well as the radiologic features, are usually nonspecific and depend on the affected site and organ. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:289682 owl:Class MONDO:0009417 biolink:NamedThing hypergonadotropic hypogonadism-cataract syndrome This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family. tmpaxzxjjyw_mondo_relaxed.owl cataracts and testicular failure|hypogonadism-cataract syndrome|hypogonadism cataract syndrome|Lubinsky syndrome SCTID:721233005|OMIM:240950|MESH:C543092|Orphanet:2410|UMLS:C1855859|ICD10:E29.1|GARD:0000298 owl:Class MONDO:0006930 biolink:NamedThing pseudobulbar palsy A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes. tmpaxzxjjyw_mondo_relaxed.owl pseudobulbar paralysis|pseudobulbar palsy EFO:1001131|ICD9:335.23|MESH:D020828|MedDRA:10037114|DOID:12680|SCTID:7379000|UMLS:C0033790|NCIT:C129934 owl:Class NCBITaxon:11071 biolink:NamedThing Japanese encephalitis virus group tmpaxzxjjyw_mondo_relaxed.owl Japanese encephalitis viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004833 biolink:NamedThing plantar fasciitis Inflammation of the thick tissue on the bottom of the foot (plantar fascia) causing heel pain. The plantar fascia (also called plantar aponeurosis) are bands of fibrous tissue extending from the calcaneal tuberosity to the toes. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with heel spur, they do not appear to be causally related. tmpaxzxjjyw_mondo_relaxed.owl DOID:9600|EFO:1001909|MESH:D036981|SCTID:202882003|UMLS:C0149756|ICD10:M72.2 owl:Class MONDO:0100462 biolink:NamedThing short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. tmpaxzxjjyw_mondo_relaxed.owl osteochondritis dissecans, short stature, and early-onset osteoarthritis|osteochondritis dissecans and short stature|OD|SSOAOD Orphanet:251262|OMIM:165800 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4167 owl:Class MONDO:0013274 biolink:NamedThing retinitis pigmentosa 51 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene. tmpaxzxjjyw_mondo_relaxed.owl TTC8 retinitis pigmentosa|retinitis pigmentosa caused by mutation in TTC8|RP51|retinitis pigmentosa 51|retinitis pigmentosa type 51 DOID:0110398|ICD10:H35.5|OMIM:613464|UMLS:C3150715 owl:Class UBERON:0008188 biolink:NamedThing tendon of biceps brachii tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009199 biolink:NamedThing facial suture tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009198 biolink:NamedThing craniofacial suture tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044923 biolink:NamedThing acute myeloid leukemia with mutated NPM1 An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. It usually responds to induction therapy. tmpaxzxjjyw_mondo_relaxed.owl acute myeloid leukemia, NPM1 gene mutation|AML, NPM1 gene mutation|NPMc+ AML|AML, Mutation of the Nucleophosmin Gene|AML, Nucleophosmin Gene Mutation|AML, NPM1 Mutation|acute myeloid leukemia with cytoplasmic nucleophosmin|AML with mutated NPM1|acute myeloid leukemia with mutated NPM1 ONCOTREE:AMLNPM1|NCIT:C82431|UMLS:C2826177|NCIT:C82429 https://github.com/monarch-initiative/mondo/issues/3583 owl:Class MONDO:0003588 biolink:NamedThing larynx liposarcoma A rare malignant adipose tissue neoplasm of the larynx. It predominantly affects males. Clinical presentation includes dysphonia, dysphagia and respiratory symptoms. The supraglottis is the most common site of involvement. tmpaxzxjjyw_mondo_relaxed.owl lip larynx sarcoma|liposarcoma of larynx|larynx liposarcoma|laryngeal liposarcoma|liposarcoma of the larynx UMLS:C1334372|DOID:5696|NCIT:C6021 owl:Class MONDO:0010485 biolink:NamedThing X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. tmpaxzxjjyw_mondo_relaxed.owl MCOPS13|microphthalmia, syndromic 13|Maine microphthalmos|microphthalmia, syndromic type 13|colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation|X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome ICD10:Q87.0|Orphanet:431140|UMLS:C3806742|OMIM:300915 owl:Class HGNC:8806 biolink:NamedThing PDHA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:48791 biolink:NamedThing Setariidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6295 biolink:NamedThing Filarioidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002526 biolink:NamedThing dermal unilateral segmental cavernous angioma tmpaxzxjjyw_mondo_relaxed.owl unilateral segmental cavernous hemangioma|unilateral segmental cavernous hemangioma of the skin UMLS:C0474966|DOID:3148 owl:Class MONDO:0006855 biolink:NamedThing mesenteric vascular occlusion Obstruction of the flow in the splanchnic circulation by atherosclerosis; embolism; thrombosis; stenosis; trauma; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as periarteritis nodosa and thromboangiitis obliterans. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6) tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025472|EFO:1001043|DOID:13252|MedDRA:10074583|MESH:D008641 owl:Class MONDO:0014389 biolink:NamedThing polyglucosan body myopathy 1 with or without immunodeficiency A rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported. tmpaxzxjjyw_mondo_relaxed.owl PGBM1|polyglucosan body myopathy, early-onset, with or without immunodeficiency|polyglucosan body myopathy 1 with or without immunodeficiency|polyglucosan body myopathy type 1 UMLS:C4014605|OMIM:615895|Orphanet:397937|Orphanet:329173|ICD10:E74.0 owl:Class MONDO:0000192 biolink:NamedThing polyglucosan body myopathy tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228160|OMIMPS:615895 owl:Class MONDO:0013345 biolink:NamedThing d-2-hydroxyglutaric aciduria 2 Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene. tmpaxzxjjyw_mondo_relaxed.owl IDH2 D-2-hydroxyglutaric aciduria|d-2-hydroxyglutaric aciduria 2|D2HGA2|D-2-hydroxyglutaric aciduria 2|D-2-hydroxyglutaric aciduria caused by mutation in IDH2|D-2-hydroxyglutaric aciduria type 2 OMIM:613657|DOID:0111352|Orphanet:79315|UMLS:C3150909 owl:Class MONDO:0010924 biolink:NamedThing D-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid. tmpaxzxjjyw_mondo_relaxed.owl D2HGA|D-2-hydroxyglutaric aciduria type 1|D2HA|D-2-hydroxyglutaric acidemia|D-2-hydroxyglutaric aciduria 1|D-2-HGA DOID:0050575|OMIM:600721|UMLS:CN233040|OMIM:613657|OMIMPS:600721|Orphanet:79315|GARD:0005661|SCTID:237960000|UMLS:C1833429|ICD10:E72.8 owl:Class ENVO:01000687 biolink:NamedThing coast A coast is the area where land meets the sea, ocean, or lake. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020413 biolink:NamedThing encircling double aortic arch Encircling double aortic arch is a very rare congenital anomaly of the great arteries characterized by the presence of two aortic arches (right and left) which encircle and compress the trachea and esophagus, resulting in various respiratory and gastrointestinal symptoms (e.g. harsh breathing, stridor, dyspnea, cyanotic and choking episodes, chronic cough, recurrent respiratory tract infections, dysphagia and reflux). Esophageal atresia and tracheoesophageal fistula have also been reported. It usually occurs isolated, but, on occasion, may be associated with other congenital heart anomalies and chromosomal aberations. tmpaxzxjjyw_mondo_relaxed.owl SCTID:764521002|Orphanet:99075|ICD10:Q25.4 owl:Class HP:0033107 biolink:NamedThing Abnormal circulating proteinogenic amino acid concentration An elevated level of a proteinogenic amino acid in the blood circulation. These are the 23 alpha-amino acids that are precursors to proteins, and are incorporated into proteins during translation. The group includes the 20 amino acids encoded by the nuclear genes of eukaryotes together with selenocysteine, pyrrolysine, and N-formylmethionine. tmpaxzxjjyw_mondo_relaxed.owl 2020-08-29 11:59:15+00:00 peter human_phenotype owl:Class HP:0003112 biolink:NamedThing Abnormal circulating amino acid concentration The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of serum amino acid level|Abnormality of serum amino acid levels UMLS:C4025653 human_phenotype owl:Class MONDO:0004130 biolink:NamedThing anus basaloid carcinoma An anal squamous cell carcinoma characterized by the presence of malignant cells with hyperchromatic nuclei and peripheral nuclear palisading. tmpaxzxjjyw_mondo_relaxed.owl basaloid carcinoma of the anus|anus basaloid squamous cell carcinoma|anal basaloid carcinoma|basaloid carcinoma of anus NCIT:C8256|UMLS:C0280470|DOID:7174 owl:Class MONDO:0011089 biolink:NamedThing patent ductus venosus tmpaxzxjjyw_mondo_relaxed.owl patent ductus venosus|PDV|PSVS|portosystemic Venous shunt, congenital GARD:0010483|ICD9:747.49|MESH:C562830|SCTID:253330006|OMIM:601466 https://rarediseases.info.nih.gov/diseases/10483/patent-ductus-venosus owl:Class CHEBI:30762 biolink:NamedThing salicylate A monohydroxybenzoate that is the conjugate base of salicylic acid. tmpaxzxjjyw_mondo_relaxed.owl o-hydroxybenzoate|sal|salicylate|Salicylate|2-hydroxybenzoate|2-hydroxybenzoic acid ion(1-) owl:Class MONDO:0005503 biolink:NamedThing developmental disorder of mental health A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. tmpaxzxjjyw_mondo_relaxed.owl developmental disorder of mental health|developmental mental disorder SCTID:129104009|DOID:0060037|EFO:0005548|ICD9:315.8 MONDO:0700092 owl:Class MONDO:0016599 biolink:NamedThing autosomal dominant secondary polycythemia Autosomal dominant form of secondary polycythemia. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant secondary erythrocytosis|secondary polycythemia, autosomal dominant UMLS:CN201790|ICD10:D75.1|OMIM:609820|OMIM:611783|Orphanet:247511 owl:Class MONDO:0043523 biolink:NamedThing cadmium poisoning Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis. tmpaxzxjjyw_mondo_relaxed.owl Poisonings, cadmium|Itai Itai|Itai-Itai|cadmium Poisonings|cadmium poisoning|poisoning, cadmium SCTID:3398004|MESH:D002105 owl:Class HGNC:601 biolink:NamedThing APOA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009431 biolink:NamedThing hereditary hypophosphatemic rickets with hypercalciuria Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. tmpaxzxjjyw_mondo_relaxed.owl hypophosphatemic hypercalciuric rickets|hypercalciuric hypophosphatemic rickets|hypophosphatemic rickets with hypercalciuria, hereditary|hypercalciuric rickets|HHRH ICD10:E83.3|OMIM:241530|UMLS:C1853271|Orphanet:157215|MESH:C562793|SCTID:237891005|DOID:0050947|NCIT:C131450 owl:Class MONDO:0009068 biolink:NamedThing cytochrome-c oxidase deficiency disease A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis. tmpaxzxjjyw_mondo_relaxed.owl isolated cytochrome C oxidase deficiency|Complex IV deficiency|cytochrome-c oxidase deficiency disease|COX deficiency|mitochondrial complex IV deficiency|cytochrome-C oxidase deficiency|mitochondrial Complex 4 deficiency|Cox deficiency|isolated COX deficiency|Complex 4 mitochondrial respiratory chain deficiency|deficiency of mitochondrial respiratory chain complex4|cytochrome C oxidase deficiency|isolated mitochondrial respiratory chain complex IV deficiency DOID:3762|UMLS:C0268237|GARD:0000048|ICD10:E88.8|SCTID:67434000|OMIM:220110|Orphanet:254905|NCIT:C98910|MESH:D030401 owl:Class MONDO:0021915 biolink:NamedThing arakawa syndrome 2 A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly. tmpaxzxjjyw_mondo_relaxed.owl Arakawa's syndrome 2|Arakawa syndrome II|methionine synthase deficiency|tetrahydrofolate methyltransferase deficiency|tetrahydrofolate-methyltransferase deficiency syndrome|methylcobalamin deficiency, cblG type|N5-methylhomocysteine transferase deficiency|homocystinuria-megaloblastic Anemia, cblG complementation type|Arakawa's syndrome II SCTID:89579000|MESH:C537426|NCIT:C99081|UMLS:C0268611 owl:Class MONDO:0007593 biolink:NamedThing facial spasm tmpaxzxjjyw_mondo_relaxed.owl facial spasm OMIM:134300 owl:Class HP:0100022 biolink:NamedThing Abnormality of movement An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. tmpaxzxjjyw_mondo_relaxed.owl Unusual movement|Abnormality of movement|Movement disorder UMLS:C0026650|MSH:D009069|SNOMEDCT_US:60342002 Movement disorders are characterized by the phenotypic abnormalities including abnormal involuntary movements, akathisia, akinesia, athetosis, ataxia, ballismus, bradykinesia, chorea, dyskinesia, dystonia, and myoclonus tics, tremor, spasms, and stereotypy. doelkens 2010-05-28T11:48:50Z HP:0001294 human_phenotype owl:Class HGNC:6138 biolink:NamedThing ITGA2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004811 biolink:NamedThing simple chronic conjunctivitis tmpaxzxjjyw_mondo_relaxed.owl SCTID:8211008|UMLS:C0155146|DOID:9512|ICD10:H10.42|ICD9:372.11 owl:Class HGNC:10914 biolink:NamedThing SLC12A6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009157 biolink:NamedThing split hand-foot malformation 6 Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene. tmpaxzxjjyw_mondo_relaxed.owl split-hand/foot malformation type 6|WNT10B split hand-foot malformation|split hand-foot malformation caused by mutation in WNT10B|split-hand/foot malformation 6|ectrodactyly, autosomal recessive|SHFM6|split hand-foot malformation type 6 ICD10:Q71.6|MESH:C567616|Orphanet:2440|DOID:0090026|UMLS:C0265554|UMLS:C2749665|OMIM:225300 owl:Class MONDO:0016576 biolink:NamedThing split hand-foot malformation Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported. tmpaxzxjjyw_mondo_relaxed.owl SHFM|split hand-split foot malformation|isolated split hand-split foot malformation|split hand foot malformation|lobster-claw deformity|ectrodactyly|split-hand/foot malformation|FEWER digits|split-hand deformity NCIT:C75000|OMIM:313350|DOID:0090020|OMIM:225300|ICD10:Q72.7|OMIMPS:183600|ICD10:Q71.6|OMIM:606708|GARD:0006319|OMIM:246560|Orphanet:2440|SCTID:81208006|OMIM:183600|UMLS:C0265554|OMIM:605289 owl:Class MONDO:0012454 biolink:NamedThing alcohol sensitivity, acute Alcohol intolerance is characterized by immediate unpleasant reactions after drinking alcohol. The most common signs and symptoms of alcohol intolerance are stuffy nose and skin flushing. Alcohol intolerance is caused by a genetic condition in which the body is unable to break down alcohol efficiently, usually found in Asians. These individuals accumulate acetaldehyde, the primary metabolite of ethanol, because of a genetic polymorphism of aldehyde dehydrogenase (ALDH) that metabolizes acetaldehyde to nontoxic acetate. The only way to prevent alcohol intolerance reactions is to avoid alcohol. Alcohol intolerance isn't an allergy. However, in some cases, what seems to be alcohol intolerance may be a reaction to something in an alcoholic beverage, such as chemicals, grains or preservatives. Combining alcohol with certain medications also can cause reactions. In rare instances, an unpleasant reaction to alcohol can be a sign of a serious underlying health problem that requires diagnosis and treatment. tmpaxzxjjyw_mondo_relaxed.owl alcohol intolerance|alcohol sensitivity, acute|acute alcohol sensitivity|Hangover, susceptibility to OMIM:610251|GARD:0012634 https://rarediseases.info.nih.gov/diseases/12634/acute-alcohol-sensitivity owl:Class MONDO:0100054 biolink:NamedThing idiopathic anaphylaxis Idiopathic anaphylaxis is a rare form of anaphylaxis for which triggers cannot be identified despite a detailed history and careful diagnostic assessment. tmpaxzxjjyw_mondo_relaxed.owl 2018-08-15 17:39:53+00:00 SCTID:241954008 owl:Class HGNC:8082 biolink:NamedThing NYX tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100412 biolink:NamedThing acute myeloid leukemia, monoallelic CEBPA gene mutation Any acute myeloid leukemia that has the chromosomal anomaly monoallelic CEBPA gene mutation. (The presence of mutations in only one allele of the CEBPA gene.) tmpaxzxjjyw_mondo_relaxed.owl AML, CEBPA Monoallelic Gene Mutation|AML, moCEBPA|AML, C/EBP-Alpha Monoallelic Gene Mutation|AML, CCAAT Enhancer Binding Protein Alpha Monoallelic Gene Mutation|AML, monoallelic CEBPA gene mutation|AML, CCAAT/Enhancer Binding Protein Alpha Monoallelic Gene Mutation|AML, CEBPA Monoallelic Mutation|AML, C/EBPalpha Monoallelic Gene Mutation|AML, CEBP Monoallelic Gene Mutation|AML, CCAAT/Enhancer Binding Protein, Alpha Monoallelic Gene Mutation NCIT:C168774 owl:Class HGNC:12830 biolink:NamedThing XRCC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000152 biolink:NamedThing Abnormality of head or neck An abnormality of head and neck. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of head or neck|Head and neck abnormality UMLS:C4021817 human_phenotype owl:Class MONDO:0000914 biolink:NamedThing cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. tmpaxzxjjyw_mondo_relaxed.owl CADASIL type 1|autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1|cerebral arteriopathy with subcortical infarcts and leukoencephalopathy|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|CADASIL|CADASIL 1|cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1|dementia, hereditary multi-infarct type|CADASIL syndrome|familial vascular leukoencephalopathy|hereditary multi-infarct dementia|CASIL|CADASIL1 UMLS:C0751587|GARD:0001049|NCIT:C84606|OMIM:125310|MedDRA:10065551|ICD10:F01.1|SCTID:390936003|MESH:D046589|DOID:0111035|Orphanet:136 owl:Class MONDO:0001949 biolink:NamedThing acute thyroiditis Acute form of thyroiditis (disease). tmpaxzxjjyw_mondo_relaxed.owl thyroiditis (disease), acute|acute thyroiditis (disease) ICD10:E06.0|ICD9:245.0|DOID:14353|SCTID:190293001|UMLS:C0001360 owl:Class MONDO:0001334 biolink:NamedThing hypertrichosis of eyelid A hypertrichosis (disease) that involves the eyelid. tmpaxzxjjyw_mondo_relaxed.owl eyelid hypertrichosis (disease)|hypertrichosis (disease) of eyelid DOID:11669|SCTID:79830009|ICD9:374.54|ICD10:H02.86|UMLS:C0155213 owl:Class MONDO:0005466 biolink:NamedThing hypersomnia A sleep disorder characterized by excessive sleepiness. tmpaxzxjjyw_mondo_relaxed.owl hypersomnia (disease)|hypersomnia hypersomnia (disease) EFO:0005246|HP:0100786|UMLS:C0917799|ICD9:780.54|NCIT:C78346|SCTID:77692006 owl:Class HGNC:9059 biolink:NamedThing PLCB4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017870 biolink:NamedThing supravalvular pulmonary stenosis tmpaxzxjjyw_mondo_relaxed.owl pulmonary supravalvular stenosis Orphanet:3192|GARD:0004594|ICD10:Q25.6 https://rarediseases.info.nih.gov/diseases/4594/pulmonary-supravalvular-stenosis owl:Class MONDO:0018373 biolink:NamedThing avascular necrosis Necrotic changes in the bone tissue due to interruption of blood supply. Most often affecting the epiphysis of the long bones, the necrotic changes result in the collapse and the destruction of the bone structure. tmpaxzxjjyw_mondo_relaxed.owl avascular necrosis of bone|AVN Orphanet:399164|NCIT:C34841|ICD10:M87.0|SCTID:397758007|ICD10:M87.3|ICD10:M87.1|ICD10:M87.8|ICD10:M87.2|ICD10:M87.9 owl:Class MONDO:0030875 biolink:NamedThing frontotemporal dementia and/or amyotrophic lateral sclerosis 5 tmpaxzxjjyw_mondo_relaxed.owl frontotemporal dementia and/or amyotrophic lateral sclerosis 5|FTDALS5 OMIM:619141 owl:Class HGNC:21317 biolink:NamedThing DYM tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0030682 biolink:NamedThing Left ventricular noncompaction Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1960469 human_phenotype owl:Class MONDO:0002297 biolink:NamedThing epidermal appendage tumor A benign or malignant neoplasm that arises from the hair follicles, sebaceous glands, or sweat glands. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of the skin appendage|tumor of cutaneous appendage|neoplasm of Epidermal appendage|adnexal neoplasm of the skin|skin appendage tumor|neoplasm of skin with adnexal differentiation|neoplasm of skin appendage|neoplasm of cutaneous appendage|cutaneous appendage neoplasm (disease)|Epidermal appendage neoplasm|cutaneous appendage neoplasm|Epidermal appendage tumor|cutaneous appendage tumor|tumor of the skin appendage|skin appendage neoplasm|cutaneous adnexal neoplasm|tumor of skin appendage|adnexal tumor of the skin|tumor of Epidermal appendage|skin appendage tumour|adnexal neoplasm of skin|adnexal tumor of skin ICD9:239.2|UMLS:C0345988|NCIT:C4463|DOID:2433|SCTID:126489007 owl:Class GO:0055118 biolink:NamedThing negative regulation of cardiac muscle contraction Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle contraction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006835 biolink:NamedThing dicarboxylic acid transport The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl sodium:dicarboxylate transport owl:Class GO:0046942 biolink:NamedThing carboxylic acid transport The directed movement of carboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006067 biolink:NamedThing musculature of hindlimb zeugopod tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003585 biolink:NamedThing adult liposarcoma A malignant neoplasm arising from adipocytes, that occurs in adults. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma. tmpaxzxjjyw_mondo_relaxed.owl liposarcoma of adults|adult liposarcoma|liposarcoma DOID:5693|NCIT:C7811|UMLS:C0278608 owl:Class MONDO:0009200 biolink:NamedThing eyebrow duplication-syndactyly syndrome Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl eyebrows duplication of, with stretchable skin and syndactyly|eyebrows, DUPLICATION of, with stretchable skin and syndactyly MESH:C536383|OMIM:227210|GARD:0002216|UMLS:C1856896|Orphanet:3172 owl:Class MONDO:0022875 biolink:NamedThing cortada Koussef Matsumoto syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001546 https://rarediseases.info.nih.gov/diseases/1546/cortada-koussef-matsumoto-syndrome owl:Class GO:0005929 biolink:NamedThing cilium A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. tmpaxzxjjyw_mondo_relaxed.owl primary cilium|flagellum|microtubule-based flagellum|eukaryotic flagellum owl:Class MONDO:0009875 biolink:NamedThing achromatopsia 3 Any achromatopsia in which the cause of the disease is a mutation in the CNGB3 gene. tmpaxzxjjyw_mondo_relaxed.owl rod monochromatism 1, formerly|achromatopsia 3|ACHM1 (formerly)|ACHM1|RMCH1|rod monochromatism 1|achromatopsia caused by mutation in CNGB3|ACHM1, formerly|Rod monochromatism 1 (formerly)|ACHM3|achromatopsia with myopia|Rod monochromacy 1 (formerly)|achromatopsia type 3|rod monochromacy 1|RMCH1 (formerly)|rod monochromacy 1, formerly|CNGB3 achromatopsia|total colorblindness with myopia DOID:0110008|Orphanet:49382|UMLS:C1849792|OMIM:262300|GARD:0009650 owl:Class MONDO:0030981 biolink:NamedThing immunodeficiency 79 tmpaxzxjjyw_mondo_relaxed.owl CD4 Deficiency|IMD79|immunodeficiency 79 OMIM:619238 owl:Class MONDO:0012808 biolink:NamedThing dilated cardiomyopathy 1AA Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction|ACTN2 familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1AA|dilated cardiomyopathy 1AA with or without left ventricular noncompaction|cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction|CMD1AA|familial isolated dilated cardiomyopathy caused by mutation in ACTN2 ICD10:I42.0|MESH:C567407|UMLS:C2677338|DOID:0110428|OMIM:612158 owl:Class NCBITaxon:2731363 biolink:NamedThing Herviviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2731361 biolink:NamedThing Peploviricota tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032604 biolink:NamedThing retinitis pigmentosa 84 tmpaxzxjjyw_mondo_relaxed.owl RP84|RETINITIS PIGMENTOSA 84 OMIM:618220 owl:Class GO:0097325 biolink:NamedThing melanocyte proliferation The multiplication or reproduction of melanocytes, resulting in the expansion of a cell population. A melanocyte is a pigment cell derived from the neural crest. It contains melanin-filled pigment granules, which give a brown to black appearance. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050673 biolink:NamedThing epithelial cell proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000600 biolink:NamedThing lower urinary tract cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001115 cell owl:Class GO:1904320 biolink:NamedThing positive regulation of smooth muscle contraction involved in micturition Any process that activates or increases the frequency, rate or extent of smooth muscle contraction involved in micturition. tmpaxzxjjyw_mondo_relaxed.owl upregulation of smooth muscle contraction involved in micturition|up regulation of urinary bladder smooth muscle contraction involved in micturition|activation of smooth muscle contraction involved in micturition|up-regulation of smooth muscle contraction involved in micturition|activation of smooth muscle contraction involved in urination|up-regulation of smooth muscle contraction involved in urination|up regulation of smooth muscle contraction involved in urination|activation of urinary bladder smooth muscle contraction involved in micturition|positive regulation of urinary bladder smooth muscle contraction involved in micturition|upregulation of urinary bladder smooth muscle contraction involved in micturition|up regulation of smooth muscle contraction involved in micturition|upregulation of smooth muscle contraction involved in urination|up-regulation of urinary bladder smooth muscle contraction involved in micturition|positive regulation of smooth muscle contraction involved in urination owl:Class HGNC:9577 biolink:NamedThing PSPH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016506 biolink:NamedThing ectopic aldosterone-producing tumor Ectopic aldosterone-producing tumor is an extremely rare aldosterone-producing neoplasm composed of aberrant adrenocortical tissue located outside the adrenal glands (e.g. in retroperitoneum, perirenal or periaortic fatty tissue, thorax, spinal canal, testes, ovaries) typically characterized by symptoms related to increased aldosterone levels (such as sustained, treatment-resistant hypertension and hypokalemia) or symptoms caused by local tumor enlargement. tmpaxzxjjyw_mondo_relaxed.owl Extra-adrenal aldosterone-producing tumor Orphanet:231632|ICD10:E26.8|UMLS:CN201515 owl:Class NCBITaxon:156300 biolink:NamedThing Chaetothyriales incertae sedis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:36051 ncbi_taxonomy owl:Class NCBITaxon:34395 biolink:NamedThing Chaetothyriales tmpaxzxjjyw_mondo_relaxed.owl black yeasts GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:129726 biolink:NamedThing Pseudocowpox virus tmpaxzxjjyw_mondo_relaxed.owl Pseudocowpoxvirus GC_ID:1 ncbi_taxonomy owl:Class HGNC:26929 biolink:NamedThing CDIN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003684 biolink:NamedThing clear cell chondrosarcoma A rare, usually low grade chondrosarcoma characterized by the presence of tumor cells with clear cytoplasm. It usually arises in the epiphyseal ends of long bones. tmpaxzxjjyw_mondo_relaxed.owl clear cell chondrosarcoma (morphologic abnormality)|clear cell chondrosarcoma ICDO:9242/3|DOID:5867|NCIT:C6475|UMLS:C1266167 owl:Class UBERON:0011379 biolink:NamedThing male external urethral sphincter tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:34383 biolink:NamedThing PCARE tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071417 biolink:NamedThing cellular response to organonitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. tmpaxzxjjyw_mondo_relaxed.owl cellular response to organic nitrogen owl:Class MONDO:0010594 biolink:NamedThing inherited genitourinary tract anomalies tmpaxzxjjyw_mondo_relaxed.owl inherited genitourinary tract anomalies (disease)|genitourinary tract anomalies inherited genitourinary tract anomalies (disease) OMIM:305690|MESH:C564424|HP:0000119 owl:Class MONDO:0033613 biolink:NamedThing neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities tmpaxzxjjyw_mondo_relaxed.owl CPSQ1|cerebral palsy, spastic quadriplegic, 1|cerebral palsy spastic quadriplegic|NEDSWMA|cerebral palsy, spastic quadriplegic, type 1 OMIM:603513|OMIM:619026|GARD:0010447|Orphanet:210141|MESH:C567853|UMLS:C2751938 https://rarediseases.info.nih.gov/diseases/10447/cerebral-palsy-spastic-quadriplegic owl:Class MONDO:0001017 biolink:NamedThing epididymal adenocarcinoma A rare adenocarcinoma that arises from the epididymis. It usually presents as a scrotal mass and may be associated with testicular pain. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of the epididymis|epididymal adenocarcinoma|epididymis adenocarcinoma DOID:10368|UMLS:C1510784|NCIT:C39957 owl:Class MONDO:0007274 biolink:NamedThing carpal displacement tmpaxzxjjyw_mondo_relaxed.owl carpal bossing|carpal displacement UMLS:C1861847|OMIM:115400 owl:Class GO:2000243 biolink:NamedThing positive regulation of reproductive process Any process that activates or increases the frequency, rate or extent of reproductive process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003022 biolink:NamedThing pediatric angiosarcoma An angiosarcoma occurring in childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric angiosarcoma|childhood angiosarcoma|childhood angiosarcoma (disease)|pediatric angiosarcoma (disease)|angiosarcoma (disease) of childhood|pediatric hemangiosarcoma|childhood hemangiosarcoma|angiosarcoma DOID:4505|NCIT:C9174|UMLS:C0279988 owl:Class MONDO:0005916 biolink:NamedThing placenta accreta The clinical condition in which any part of the placenta invades and is inseparable from the uterine wall. (reVITALize) tmpaxzxjjyw_mondo_relaxed.owl placenta Percreta|placenta Increta|Increta, placenta|accreta, placenta|Percreta, placenta SCTID:70129008|EFO:0007440|ICD10:O43.21|NCIT:C26856|DOID:4744|MESH:D010921 owl:Class MONDO:0012903 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 45 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1q43-q44. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 45|DFNB45|autosomal recessive nonsyndromic deafness type 45|autosomal recessive nonsyndromic deafness 45|autosomal recessive deafness 45 ICD10:H90.3|DOID:0110502|OMIM:612433 owl:Class MONDO:0013194 biolink:NamedThing Pseudopili annulati tmpaxzxjjyw_mondo_relaxed.owl Pseudopili annulati OMIM:613241 owl:Class UBERON:0005022 biolink:NamedThing mucosa of nasopharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019429 biolink:NamedThing X-linked neurodegenerative syndrome, Hamel type X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:85336|SCTID:718847005|UMLS:CN206187|ICD10:G31.8 owl:Class MONDO:0005195 biolink:NamedThing septic peritonitis Septic peritonitis is an inflammatory condition of the peritoneum that occurs secondary to microbial contamination. This clinically important condition has a wide variety of clinical courses as well as high morbidity and mortality due to secondary multiorgan dysfunction. This article reviews the etiology and pathophysiology of this condition and its diagnosis in small animals; a companion article addresses treatment and prognosis. tmpaxzxjjyw_mondo_relaxed.owl Wikipedia:Septic_peritonitis|EFO:0002623|PMID:22911262 owl:Class MONDO:0015714 biolink:NamedThing secondary central precocious puberty tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200226|ICD10:E22.8|Orphanet:169618 owl:Class MONDO:0015777 biolink:NamedThing adult hypothyroidism A hypothyroidism that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl rare adult hypothyroidism UMLS:CN226738|Orphanet:177101 https://github.com/monarch-initiative/mondo/issues/254 owl:Class CHEBI:50176 biolink:NamedThing keratolytic drug A drug that softens, separates, and causes desquamation of the cornified epithelium or horny layer of skin. Keratolytic drugs are used to expose mycelia of infecting fungi or to treat corns, warts, and certain other skin diseases. tmpaxzxjjyw_mondo_relaxed.owl desquamating agent|skin-peeling agent|keratolytic agent|keratolytic drugs owl:Class CHEBI:50177 biolink:NamedThing dermatologic drug A drug used to treat or prevent skin disorders or for the routine care of skin. tmpaxzxjjyw_mondo_relaxed.owl dermatologic agent|dermatologic drugs|dermatological agent owl:Class MONDO:0018425 biolink:NamedThing Huntington disease-like syndrome due to C9ORF72 expansions tmpaxzxjjyw_mondo_relaxed.owl Huntington disease phenocopy due to C9ORF72 expansions|C9ORF72-related Huntington disease phenocopy|C9ORF72-related Huntington disease-like syndrome Orphanet:401901|UMLS:CN226138|ICD10:G10 owl:Class MONDO:0032586 biolink:NamedThing diarrhea 10, protein-losing enteropathy type tmpaxzxjjyw_mondo_relaxed.owl DIAR10|DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE OMIM:618183 owl:Class UBERON:0005334 biolink:NamedThing oral lamina propria tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006545 biolink:NamedThing erythema multiforme Erythema multiforme (EM) refers to a group ofhypersensitivity disorders characterized by symmetric red, patchy lesions, primarily on the arms and legs. The cause is unknown, but EM frequently occurs in association with herpes simplex virus, suggesting an immunologic process initiated by the virus. In half of the cases, the triggering agents appear to be medications, including anticonvulsants, sulfonamides, nonsteroidal anti-inflammatory drugs, and other antibiotics. In addition, some cases appear to be associated with infectious organisms such as Mycoplasma pneumoniae and many viral agents. Erythema multiforme is the mildest of three skin disorders that are often discussed in relation to each other. It is generally the mildest of the three. More severe is Stevens-Johnson syndrome. The most severe of the three is toxic epidermal necrolysis (TEN). tmpaxzxjjyw_mondo_relaxed.owl EM|erythema polymorphe, erythema multiforme type|Dermatostomatitis, erythema multiforme type|febrile mucocutaneous syndrome|Herpes iris, erythema multiforme type|erythema multiforme bullosum NCIT:C3024|ICD9:695.1|ICD9:695.10|DOID:0050185|EFO:1000694|UMLS:C0014742|GARD:0006372|ICD10:L51|SCTID:36715001|MESH:D004892 https://rarediseases.info.nih.gov/diseases/6372/erythema-multiforme owl:Class MONDO:0041775 biolink:NamedThing intraoperative floppy iris syndrome tmpaxzxjjyw_mondo_relaxed.owl intraoperative floppy iris syndrome SCTID:418801006|UMLS:C1688637 owl:Class MONDO:0006829 biolink:NamedThing leukemoid reaction A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear. tmpaxzxjjyw_mondo_relaxed.owl ICD10:D72.823|NCIT:C3185|MedDRA:10024373|ICD9:288.8|UMLS:C0023501|MESH:D007955|SCTID:56478004|EFO:1001014|ICD9:288.62 Represents a finding, may be obsoleted. owl:Class MONDO:0022746 biolink:NamedThing chromosome 13p duplication tmpaxzxjjyw_mondo_relaxed.owl Duplication 13p|trisomy 13p|chromosome 13p, trisomy UMLS:CN037021|MESH:C535450 owl:Class MONDO:0014331 biolink:NamedThing Moyamoya disease with early-onset achalasia Moyamoya disease with early-onset achalasia is an exceedingly rare autosomal recessive neurological disorder reported only in a few families so far. It is characterized by the association of early onset achalasia (manifesting in infancy) with severe intracranial angiopathy that is consistent with moyamoya angiopathy in most cases (moyamoya disease). Other variable associated manifestations include hypertension, Raynaud phenomenon, and livedo reticularis. tmpaxzxjjyw_mondo_relaxed.owl MYMY6|Moyamoya disease 6 with achalasia SCTID:718551002|UMLS:C3810403|OMIM:615750|ICD10:I67.5|Orphanet:401945 owl:Class MONDO:0015617 biolink:NamedThing genetic gastro-esophageal disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199993|Orphanet:165658 owl:Class MONDO:0020393 biolink:NamedThing discrete fibromuscular subaortic stenosis tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q24.4|Orphanet:99052 owl:Class MONDO:0017727 biolink:NamedThing fixed subaortic stenosis Fixed subaortic stenosis (FSS) is a rare heart malformation characterized by the obstruction by membranous or fibromuscular tissue of the left ventricular outflow tract (LVOT) below the aortic valve, that occurs as an isolated lesion or in association with additional cardiac malformations (e.g. ventricular septal defect, patent ductus arteriosus, coarctation of the aorta), that presents in childhood with signs of LVOT obstruction (e.g. dyspnea, chest pain, syncope, palpitations) and that can potentially lead to life-threatening complications (e.g. aortic regurgitation, infective endocarditis). It comprises three anatomical subforms: discrete fixed membranous subaortic stenosis (membranous tissue encircling the LVOT), discrete fibromuscular subaortic stenosis (fibromuscular tissue encircling the LVOT) and tunnel subaortic stenosis (fibromuscular diffuse tunnel-like narrowing of the LVOT), the two latter forms being generally more severe than the membranous form. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:3092|OMIM:271950|ICD10:Q24.4 owl:Class NCBITaxon:35082 biolink:NamedThing Cryptosporidiidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:423054 biolink:NamedThing Eimeriorina tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006098 biolink:NamedThing atypical lobular breast hyperplasia Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast. tmpaxzxjjyw_mondo_relaxed.owl atypical lobular hyperplasia of breast|atypical lobular hyperplasia|ALH|atypical breast lobular hyperplasia|atypical lobular breast hyperplasia|atypical lobular hyperplasia of the breast SCTID:450697004|NCIT:C4730|EFO:1000100|ICD9:610.8 owl:Class MONDO:0010151 biolink:NamedThing tricarboxylic acid cycle, defect of tmpaxzxjjyw_mondo_relaxed.owl tricarboxylic acid cycle, defect of UMLS:C1848746|MESH:C564762|OMIM:275370 owl:Class MONDO:0017840 biolink:NamedThing classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form The simple virilizing form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting. tmpaxzxjjyw_mondo_relaxed.owl classic 21-OHD CAH, simple virilizing form ICD10:E25.0|Orphanet:315311 owl:Class CHEBI:26820 biolink:NamedThing sulfates Salts and esters of sulfuric acid tmpaxzxjjyw_mondo_relaxed.owl sulfates|sulphates|sulfuric acid derivative owl:Class FOODON:03400644 biolink:NamedThing a. primary food commodities of plant origin (ccpr) tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0644 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org owl:Class UBERON:0005147 biolink:NamedThing metanephric renal vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002682 biolink:NamedThing abducens nucleus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032915 biolink:NamedThing long QT syndrome 16 tmpaxzxjjyw_mondo_relaxed.owl long QT syndrome 16|Ventricular Tachycardia, Catecholaminergic Polymorphic 6|LONG QT SYNDROME 16|LQT16 OMIM:618782 owl:Class HGNC:4837 biolink:NamedThing HCCS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010422 biolink:NamedThing Alzheimer disease 16 An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. tmpaxzxjjyw_mondo_relaxed.owl AD16|Alzheimer's disease 16|Alzheimer disease 16|Alzheimer's disease type 16 OMIM:300756|DOID:0110036|UMLS:C2677888|MESH:C567463 owl:Class MONDO:0004975 biolink:NamedThing Alzheimer disease A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer's dementia|Alzheimer's disease|AD|Alzheimer disease, familial|Alzheimer disease|Alzheimers disease|Alzheimers dementia|Alzheimer dementia OMIM:502500|NCIT:C2866|OMIM:615590|OMIM:604154|ICD10:G30.9|ICD10:G30|ICD9:290.1|OMIM:605526|ICD9:331.0|Orphanet:238616|OMIM:615711|HP:0002511|SCTID:142811000119104|NCIT:C38778|OMIM:104300|GARD:0000632|EFO:0000249|DOID:10652|NIFSTD:birnlex_2092|KEGG:05010|MESH:D000544|UMLS:C0002395 owl:Class MONDO:0011834 biolink:NamedThing spinocerebellar ataxia type 18 Spinocerebellar ataxia type 18 (SCA18) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by sensory neuropathy and cerebellar ataxia. tmpaxzxjjyw_mondo_relaxed.owl SCA18|SMNA|sensorimotor neuropathy with ataxia, autosomal dominant|spinocerebellar ataxia 18|sensorimotor neuropathy with ataxia autosomal dominant Orphanet:98771|GARD:0009976|OMIM:607458|ICD10:G11.8|UMLS:C4304848|SCTID:719250005|MESH:C537197|DOID:0050969|UMLS:C1843884 owl:Class MONDO:0011068 biolink:NamedThing type 1 diabetes mellitus 12 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene. tmpaxzxjjyw_mondo_relaxed.owl CTLA4 type 1 diabetes mellitus|insulin-dependent diabetes mellitus 12|diabetes mellitus, insulin-dependent, type 12|IDDM12|diabetes mellitus, insulin-dependent, 12|type 1 diabetes mellitus caused by mutation in CTLA4 ICD10:E10|DOID:0110751|OMIM:601388|MESH:C563326|UMLS:C1832392 owl:Class MONDO:0022761 biolink:NamedThing chromosome 3 duplication syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931333|MESH:C536803 owl:Class NCBITaxon:123367 biolink:NamedThing Ctenosquamata tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:2847 biolink:NamedThing DGCR8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9121 biolink:NamedThing PMS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000479 biolink:NamedThing segmental dystonia A dystonia that affects two or more adjacent parts of the body. tmpaxzxjjyw_mondo_relaxed.owl SCTID:427945008|ICD9:333.89|UMLS:C1997740|DOID:0050838 owl:Class MONDO:0100277 biolink:NamedThing disorder of peroxisomal alpha oxidation Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisomal alpha oxidatiion. tmpaxzxjjyw_mondo_relaxed.owl disorder of peroxisomal alpha oxidation http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0032764 biolink:NamedThing Khan-Khan-Katsanis syndrome tmpaxzxjjyw_mondo_relaxed.owl KHAN-KHAN-KATSANIS SYNDROME|3K Syndrome|3KS OMIM:618460 owl:Class MONDO:0020401 biolink:NamedThing congenital unguarded mitral orifice Congenital unguarded mitral orifice is a rare, congenital, mitral valve malformation characterized by complete absence of mitral valve leaflets and tensor apparatus at the mitral annulus, which can present clinically with cyanosis, heart murmur, electrocardiogram abnormalities, mild cardiomegaly, or congestive heart failure. Association with heterotaxy, discordant atrioventricular connections, double-outlet right ventricle, pulmonary atresia or stenosis, thin left ventricular wall, and hypoplastic left heart syndrome has been reported. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99060|ICD10:Q23.3 owl:Class GO:0051271 biolink:NamedThing negative regulation of cellular component movement Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of a cellular component. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cellular component motion owl:Class MONDO:0009308 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-negative tmpaxzxjjyw_mondo_relaxed.owl CGD due to deficiency of the Alpha Subunit of cytochrome B|granulomatous disease, chronic, autosomal recessive, cytochrome b-negative|Cyba deficiency|CGD, autosomal recessive cytochrome B-negative OMIM:233690|DOID:0070193|UMLS:C1856255|Orphanet:379|MESH:C565533 owl:Class MONDO:0016954 biolink:NamedThing partial duplication of the long arm of chromosome 3 Chromosome 3q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on thelong arm (q) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl partial duplication of chromosome 3q|trisomy 3q|partial trisomy of chromosome 3q|chromosome 3q duplication|Duplication 3q|partial duplication of the long arm of chromosome type 3|chromosome 3, trisomy 3q GARD:0005345|MESH:C536813|Orphanet:262851|UMLS:C0795809 owl:Class NCBITaxon:34390 biolink:NamedThing Epidermophyton tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:34384 biolink:NamedThing Arthrodermataceae tmpaxzxjjyw_mondo_relaxed.owl anamorphic Arthrodermataceae|Arthrodermataceae anamorphs|dermatophytes GC_ID:1 NCBITaxon:34385 ncbi_taxonomy owl:Class MONDO:0018824 biolink:NamedThing pyoderma gangrenosum Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate. tmpaxzxjjyw_mondo_relaxed.owl EFO:0006835|MESH:D017511|ICD10:L88|SCTID:74578003|DOID:8553|UMLS:C0085652|Orphanet:48104|ICD9:686.01|MedDRA:10037635|GARD:0007510 https://rarediseases.info.nih.gov/diseases/7510/pyoderma-gangrenosum owl:Class UBERON:0013478 biolink:NamedThing cecal tonsil tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012895 biolink:NamedThing torsion dystonia 17 A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has material basis in variation in the chromosome region 20p11.2-q13.12. tmpaxzxjjyw_mondo_relaxed.owl dystonia 17, torsion, autosomal recessive|torsion dystonia type 17|DYT17|primary dystonia, DYT17 type OMIM:612406|UMLS:C2676281|Orphanet:370103|ICD10:G24.1|MESH:C567319|DOID:0090042 owl:Class UBERON:0004802 biolink:NamedThing respiratory tract epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032691 biolink:NamedThing Galloway-Mowat syndrome 6 tmpaxzxjjyw_mondo_relaxed.owl GALLOWAY-MOWAT SYNDROME 6|GAMOS6 OMIM:618347 owl:Class MONDO:0007217 biolink:NamedThing brachydactyly type A3 tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, type A3|BDA3|Brachymesophalangy 5|brachymesophalangy V|brachydactyly-clinodactyly Orphanet:93393|GARD:0000963|UMLS:C1862140|OMIM:112700|DOID:0110966|MESH:C537090 https://rarediseases.info.nih.gov/diseases/963/brachydactyly-type-a3 owl:Class MONDO:0001862 biolink:NamedThing malignant visceral pleura tumor tmpaxzxjjyw_mondo_relaxed.owl primary malignant neoplasm of visceral pleura DOID:14033|UMLS:C0153496|SCTID:94140004 owl:Class MONDO:0003637 biolink:NamedThing clear cell-sugar-tumor of the lung A rare benign lung tumor with perivascular epithelioid cell differentiation. It is composed of round or oval cells with abundant clear or eosinophilic cytoplasm and distinct cell borders. The vast majority of patients are asymptomatic and the tumors are discovered incidentally. Excision is curative. tmpaxzxjjyw_mondo_relaxed.owl CCSTL|Sugar tumor|clear cell-Sugar-tumor of the lung|clear cell-Sugar-tumor of lung|lung clear cell-sugar-tumor|lung clear cell tumor NCIT:C38152|UMLS:C1333065|DOID:5763 owl:Class MONDO:0017784 biolink:NamedThing Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) is a rare form of gastric carcinoma (seen in approximately 10% of cases) with a male predominance, characterized by a latent EBV infection in gastric carcinoma cells, diffuse-type histology, a proximal location (in the body and cardia of the stomach) and a relatively favorable prognosis. tmpaxzxjjyw_mondo_relaxed.owl EBVaGC|EBV-associated gastric carcinoma ICD10:C16.0|ICD10:C16.2|Orphanet:313920|SCTID:716586009|UMLS:CN203734 owl:Class MONDO:0013064 biolink:NamedThing multiple synostoses syndrome 3 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene. tmpaxzxjjyw_mondo_relaxed.owl multiple synostoses syndrome caused by mutation in FGF9|multiple synostoses syndrome 3|SYNS3|multiple synostoses syndrome type 3|FGF9 multiple synostoses syndrome OMIM:612961|Orphanet:3237|MESH:C567839|UMLS:C2751826 owl:Class MONDO:0017923 biolink:NamedThing multiple synostoses syndrome Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints. tmpaxzxjjyw_mondo_relaxed.owl WL syndrome|facio-audio-symphalangism|symphalangism-brachydactyly syndrome|deafness-Hermann type symphalangism syndrome OMIMPS:186500|DOID:0050794|OMIM:186500|ICD10:Q78.8|UMLS:C0342282|OMIM:610017|UMLS:CN204052|Orphanet:3237|OMIM:612961 owl:Class MONDO:0011282 biolink:NamedThing tumor suppressor gene on chromosome 11 tmpaxzxjjyw_mondo_relaxed.owl tumor suppressor gene on chromosome 11|tumor suppressor Gene on chromosome type 11|Nonsmall cell lung cancer suppressor|Tsg11 OMIM:603040|UMLS:C1864232 owl:Class HP:0002143 biolink:NamedThing Abnormality of the spinal cord An abnormality of the spinal cord (myelon). tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the spinal cord|Spinal cord disease|Spinal cord pathology MSH:D013118|UMLS:C0037928|UMLS:C4025722|SNOMEDCT_US:48522003 human_phenotype owl:Class CHEBI:39467 biolink:NamedThing thiadiazole tmpaxzxjjyw_mondo_relaxed.owl thiadiazole owl:Class CHEBI:38099 biolink:NamedThing thiadiazoles tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002173 biolink:NamedThing neuroma A tumor that grows from a nerve or is composed of nerve cells and nerve fibers. tmpaxzxjjyw_mondo_relaxed.owl DOID:2001|ICD9:215.9|UMLS:C0027858|SCTID:443892003|MESH:D009463|NCIT:C3275|ICDO:9570/0 Note that this class represents a grouping of benign neoplasms plus non-neoplastic swellings and growth such as traumatic neuromas. In future it may be split owl:Class MONDO:0020776 biolink:NamedThing chlamydiaceae infections Infections with bacteria of the family CHLAMYDIACEAE. tmpaxzxjjyw_mondo_relaxed.owl Chlamydiaceae Infection|Infection, Chlamydiaceae|Chlamydiaceae Infections|Infections, Chlamydiaceae EFO:1001288|UMLS:C0008153|MESH:D002694 owl:Class MONDO:0022892 biolink:NamedThing craniosynostosis alopecia brain defect tmpaxzxjjyw_mondo_relaxed.owl GARD:0001586 https://rarediseases.info.nih.gov/diseases/1586/craniosynostosis-alopecia-brain-defect owl:Class MONDO:0007779 biolink:NamedThing autosomal dominant Opitz G/BBB syndrome Autosomal dominant form of Opitz G/BBB syndrome. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant Opitz syndrome|Opitz-G syndrome, type 2|Opitz Bbbg syndrome|ADOS|chromosome 22Q11.2 deletion syndrome, Opitz phenotype|autosomal dominant Opitz BBB/G syndrome|Opitz-Frias syndrome|Opitz GBBB syndrome, type II|Opitz oculogenitolaryngeal syndrome, type 2|G syndrome|BBB syndrome|telecanthus with associated abnormalities|Opitz GBBB syndrome, autosomal dominant|hypospadias-dysphagia syndrome|GBBB syndrome|Opitz GBBB syndrome, type 2|Opitz G/BBB syndrome, autosomal dominant|hypertelorism-hypospadias syndrome|telecanthus-hypospadias syndrome|hypertelorism with esophageal Abnormality and hypospadias|GBBB2 OMIM:145410|Orphanet:2745|ICD10:Q87.8|Orphanet:306588 owl:Class CHEBI:38633 biolink:NamedThing sodium channel blocker An agent that inhibits sodium influx through cell membranes. tmpaxzxjjyw_mondo_relaxed.owl sodium channel blockers|Na channel blocker owl:Class CHEBI:39000 biolink:NamedThing sodium channel modulator tmpaxzxjjyw_mondo_relaxed.owl sodium channel modulators owl:Class GO:0002204 biolink:NamedThing somatic recombination of immunoglobulin genes involved in immune response The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. tmpaxzxjjyw_mondo_relaxed.owl somatic recombination of immunoglobulin genes during immune response|somatic recombination of antibody genes during immune response owl:Class MONDO:0006740 biolink:NamedThing empty sella syndrome Empty sella syndrome (ESS) is a condition that involves the sella turcica, a bony structure at the base of the brain that protects the pituitary gland. There is a primary and secondary form of the condition. The primary form occurs when a structural defect above the pituitary gland increases pressure in the sella turcica and causes the gland to flatten. The secondary form occurs when the pituitary gland is damaged due to injury, a tumor, surgery or radiation therapy. Some people with ESS have no symptoms. People with secondary ESS may have symptoms of decreased pituitary function such as absence of menstruation, infertility, fatigue, and intolerance to stress and infection. In children, ESS may be associated with early onset of puberty, growth hormone deficiency, pituitary tumors, or pituitary gland dysfunction. Treatment focuses on the symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl empty sella syndrome|empty sella|empty sella turcica MESH:D004652|MedDRA:10014567|GARD:0006331|UMLS:C0014008|SCTID:237722004|DOID:3642|NCIT:C84686|ICD9:253.8|EFO:1000914 https://rarediseases.info.nih.gov/diseases/6331/empty-sella-syndrome owl:Class MONDO:0030329 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 5 tmpaxzxjjyw_mondo_relaxed.owl MMIHS5|megacystis-microcolon-intestinal hypoperistalsis syndrome 5 OMIM:619431 owl:Class HGNC:18871 biolink:NamedThing MMAA tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:09200009 biolink:NamedThing structure of soil The structure of some soil. tmpaxzxjjyw_mondo_relaxed.owl soil structure owl:Class MONDO:0010314 biolink:NamedThing polymicrogyria, bilateral perisylvian, X-linked tmpaxzxjjyw_mondo_relaxed.owl PMGX|polymicrogyria, bilateral perisylvian, X-linked|BPPX|BPP|perisylvian syndrome, congenital bilateral SCTID:438583008|OMIM:300388|Orphanet:98889|Orphanet:268940 owl:Class MONDO:0012032 biolink:NamedThing Braddock syndrome Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect. tmpaxzxjjyw_mondo_relaxed.owl Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency|VATER-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency OMIM:608406|SCTID:720575002|UMLS:C1842082|ICD10:Q87.8|UMLS:C4303988|MESH:C564244|Orphanet:52047 owl:Class HGNC:16084 biolink:NamedThing LIMS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004218 biolink:NamedThing childhood germ cell brain tumor A germ cell tumor arising from brain during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood brain germ cell tumor|germ cell neoplasm of pediatric brain|germ cell tumor of childhood brain|germ cell neoplasm of the childhood brain|pediatric brain germ cell neoplasm|pediatric brain germ cell tumor|childhood brain germ cell neoplasm|childhood germ cell brain neoplasm|germ cell neoplasm of childhood brain|germ cell neoplasm of the pediatric brain|germ cell tumor of the childhood brain|germ cell tumor of the pediatric brain|germ cell tumor of pediatric brain|Brain germ cell tumor NCIT:C5795|UMLS:C1377598|DOID:7430 owl:Class CL:0002425 biolink:NamedThing early T lineage precursor A pro-T cell that is lin-negative, CD25-negative, CD127-negative, CD44-positive and kit-positive. tmpaxzxjjyw_mondo_relaxed.owl ETP|preT.ETP.Th ETPs are reportedly CD1a-negative, CD4-negative, CD7-positive, CD8a-negative, CD8b-negative, CD33-low, CD34-high, CD38-low, CD45RA-positive, and CD45RO-negative. tmeehan 2010-10-21T01:16:24Z cell owl:Class CL:0000827 biolink:NamedThing pro-T cell A lymphoid progenitor cell of the T cell lineage, with some lineage specific marker expression, but not yet fully committed to the T cell lineage. tmpaxzxjjyw_mondo_relaxed.owl pro-T lymphocyte|TN1 cell|progenitor T cell|DN1 cell|DN1 thymocyte cell owl:Class MONDO:0012095 biolink:NamedThing intellectual disability-brachydactyly-Pierre Robin syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. tmpaxzxjjyw_mondo_relaxed.owl ROBIN sequence with distinctive facial appearance and brachydactyly Orphanet:364577|UMLS:C1837564|OMIM:608670|MESH:C563880|ICD10:Q87.0 owl:Class CHEBI:25389 biolink:NamedThing monohydroxybenzoic acid Any hydroxybenzoic acid having a single phenolic hydroxy substituent on the benzene ring. tmpaxzxjjyw_mondo_relaxed.owl monohydroxybenzoic acids owl:Class MONDO:0015687 biolink:NamedThing chronic eosinophilic leukemia tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10065854|MESH:C580364|ICD10:D47.5|SCTID:188733003|Orphanet:168940|UMLS:C0346421|DOID:0080367 owl:Class MONDO:0002274 biolink:NamedThing monoclonal paraproteinemia disease A disease characterized by the presence of excessive amounts of paraprotein or single monoclonal gammaglobulin in the blood. It is usually due to an underlying immunoproliferative disorder or hematologic neoplasms, especially multiple myeloma. tmpaxzxjjyw_mondo_relaxed.owl monoclonal paraproteinaemia|paraproteinaemia|monoclonal paraproteinemia UMLS:C0026471|SCTID:267440005|HP:0031047|ICD9:273.1|NCIT:C35878|DOID:2346 owl:Class CL:0002022 biolink:NamedThing Ly-76 high positive erythrocyte An enucleate erythrocyte that is Lyg-76-high. tmpaxzxjjyw_mondo_relaxed.owl Marker is associated with mouse cell types. tmeehan 2010-04-26T11:51:27Z cell owl:Class MONDO:0043143 biolink:NamedThing microphthalmia microtia fetal akinesia tmpaxzxjjyw_mondo_relaxed.owl Thomas-Jewett-Raines syndrome|microphthalmia-microtia-fetal akinesia|Thomas Jewett Raines syndrome|fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus UMLS:C2931224|GARD:0003650|Orphanet:2547|MESH:C536513 owl:Class MONDO:0020023 biolink:NamedThing respiratory or mediastinal malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98045 owl:Class MONDO:0002592 biolink:NamedThing invasive malignant thymoma A malignant thymoma that extends beyond the capsule and infiltrates the surrounding tissues. tmpaxzxjjyw_mondo_relaxed.owl infiltrating thymoma|thymoma malignant invasive|malignant thymoma, invasive|invasive malignant thymoma UMLS:C0278846|DOID:3283|NCIT:C7904 owl:Class HP:0002249 biolink:NamedThing Melena The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. tmpaxzxjjyw_mondo_relaxed.owl Black feces|Black faeces SNOMEDCT_US:2901004|MSH:D008551|SNOMEDCT_US:267055007|SNOMEDCT_US:269899009|SNOMEDCT_US:249627005|SNOMEDCT_US:35064005|UMLS:C0474585|UMLS:C0025222 human_phenotype owl:Class MONDO:0010187 biolink:NamedThing vitamin K-dependent clotting factors, combined deficiency of, type 1 Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. tmpaxzxjjyw_mondo_relaxed.owl vitamin K-dependent clotting factors, combined deficiency of, 1|factors II, VII, IX, and X, combined deficiency of|VKCFD1|familial multiple coagulation Factor deficiency 3|GGCX congenital vitamin K-dependent coagulation factors combined deficiency|congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX|hereditary combined deficiency of vitamin K-dependent clotting factors|multiple coagulation Factor deficiency 3|hereditary combined deficiency of factors II, VII, IX and X|FMFD 3|vitamin K-dependent clotting factors, combined deficiency of, type 1|glutamic acid, deficient gamma-carboxylation of|Vkcfd|vitamin K-dependent coagulation defect OMIM:607473|MESH:C564741|UMLS:C1848534|ICD10:D68.2|Orphanet:98434|SCTID:724356003|OMIM:277450 owl:Class MONDO:0016153 biolink:NamedThing qualitative or quantitative defects of TRIM32 tmpaxzxjjyw_mondo_relaxed.owl Orphanet:207107 owl:Class MONDO:0008532 biolink:NamedThing teeth present at birth tmpaxzxjjyw_mondo_relaxed.owl teeth present at birth|teeth present AT birth|teeth present at birth (disease)|Natal teeth teeth present at birth (disease) SCTID:21995002|OMIM:187050|HP:0000695 owl:Class MONDO:0019807 biolink:NamedThing mesocardia tmpaxzxjjyw_mondo_relaxed.owl mesocardia|mesocardia (disease)|Midline heart mesocardia (disease) HP:0011599|ICD9:746.87|Orphanet:95443|SCTID:16567006|ICD10:Q24.8 owl:Class MONDO:0013910 biolink:NamedThing hypogonadotropic hypogonadism 8 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the KISS1R gene. tmpaxzxjjyw_mondo_relaxed.owl HH8|hypogonadotropic hypogonadism caused by mutation in KISS1R|KISS1R hypogonadotropic hypogonadism|hypogonadotropic hypogonadism 8 with or without anosmia Orphanet:478|OMIM:614837|DOID:0090074|ICD10:E23.0|UMLS:C3553841 owl:Class GO:0033602 biolink:NamedThing negative regulation of dopamine secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of dopamine. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of dopamine secretion|inhibition of dopamine secretion|downregulation of dopamine secretion|down regulation of dopamine secretion owl:Class UBERON:0001652 biolink:NamedThing left pulmonary artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33861 biolink:NamedThing transition element coordination entity tmpaxzxjjyw_mondo_relaxed.owl transition metal coordination compounds|transition metal coordination entities|transition element coordination entities owl:Class CHEBI:33240 biolink:NamedThing coordination entity An assembly consisting of a central atom (usually metallic) to which is attached a surrounding array of other groups of atoms (ligands). tmpaxzxjjyw_mondo_relaxed.owl coordination entities|coordination compounds|coordination entity owl:Class MONDO:0030994 biolink:NamedThing neurodevelopmental disorder with or without autism or seizures tmpaxzxjjyw_mondo_relaxed.owl NEDAUS|neurodevelopmental disorder with or without autism or seizures OMIM:619239 owl:Class MONDO:0005104 biolink:NamedThing aJCC grade 1 sarcoma Cancer cells are given a score of 1 to 3, with 1 being assigned when they look similar to normal cells and 3 being used when the cancer cells look very abnormal. Certain types of sarcoma are given a higher score automatically. See also NCIt:C9419 (Synonym of AJCC G1 Sarcoma) tmpaxzxjjyw_mondo_relaxed.owl well differentiated sarcoma|aJCC G1 sarcoma|aJCC grade 1 sarcoma|aJCC grade I sarcoma NCIT:C9419|EFO:0000737|UMLS:C1332066 owl:Class MONDO:0012486 biolink:NamedThing preauricular tag, isolated, autosomal dominant, 1 tmpaxzxjjyw_mondo_relaxed.owl preauricular tag, isolated, autosomal dominant, 1|preauricular Tag, isolated, autosomal dominant, type 1 MESH:C566904|UMLS:C1968893|OMIM:610420 owl:Class MONDO:0021225 biolink:NamedThing uvea neoplasm A neoplasm (disease) that involves the uvea. tmpaxzxjjyw_mondo_relaxed.owl tumor of the uvea|neoplasm of the uvea|uveal tumor|uveal neoplasm|uvea neoplasm (disease)|uvea tumor|tumor of uvea|neoplasm of uvea UMLS:C0042162|NCIT:C3436 owl:Class MONDO:0009596 biolink:NamedThing metaphyseal chondrodysplasia, Pena type tmpaxzxjjyw_mondo_relaxed.owl metaphyseal chondrodysplasia, Pena type UMLS:C1855195|OMIM:250300|MESH:C565399 owl:Class MONDO:0014934 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 24 Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 24|autosomal dominant cerebellar ataxia caused by mutation in UBA5|SCAR24|UBA5 autosomal dominant cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 24; SCAR24|spinocerebellar ataxia, autosomal recessive type 24 OMIM:617133|UMLS:C4310699|DOID:0111615 owl:Class MONDO:0010412 biolink:NamedThing X-linked intellectual disability-craniofacioskeletal syndrome X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. tmpaxzxjjyw_mondo_relaxed.owl craniofacioskeletal syndrome MESH:C567471|ICD10:Q87.8|Orphanet:163979|OMIM:300712|UMLS:C2678036 owl:Class MONDO:0009764 biolink:NamedThing ocular motor apraxia, Cogan type Ocular motor apraxia, Cogan type is characterised by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type. tmpaxzxjjyw_mondo_relaxed.owl oculomotor apraxia, Cogan type|saccade initiation failure congenital|Cogan's syndrome type 2|congenital oculomotor apraxia|COMA|oculomotor apraxia Cogan type|Cogan syndrome type 2|ocular motor apraxia|saccade initiation failure, congenital Orphanet:1125|SCTID:405809000|ICD10:H51.8|MESH:C537423|GARD:0000016|OMIM:257550 owl:Class MONDO:0032916 biolink:NamedThing Imagawa-Matsumoto syndrome tmpaxzxjjyw_mondo_relaxed.owl IMAGAWA-MATSUMOTO SYNDROME|IMMAS OMIM:618786 owl:Class MONDO:0003093 biolink:NamedThing mucoepidermoid esophageal carcinoma A rare carcinoma of the esophagus which contains squamous cells, mucus secreting cells, and cells of an intermediate type. (WHO) tmpaxzxjjyw_mondo_relaxed.owl mucoepidermoid carcinoma of the esophagus|esophagus mucoepidermoid carcinoma UMLS:C1333461|NCIT:C5343|DOID:4686 owl:Class SO:0000301 biolink:NamedThing vertebrate_immune_system_gene_recombination_feature A feature where recombination has occurred for the purpose of generating a diversity in the immune system. tmpaxzxjjyw_mondo_relaxed.owl vertebrate immune system gene recombination feature owl:Class MONDO:0008659 biolink:NamedThing transcobalamin I deficiency tmpaxzxjjyw_mondo_relaxed.owl transcobalamin I deficiency|Tcn1 deficiency|transcobalamin 1 deficiency with lactoferrin deficiency|TCI deficiency|transcobalamin 1 deficiency|cobalamin R Binder Protein deficiency|Haptocorrin deficiency|cobalamin Pseudodeficiency due to transcobalamin deficiency|R Binder deficiency with lactoferrin deficiency|transcobalamin-1 deficiency UMLS:C0342700|OMIM:193090|SCTID:237933007|ICD10:E53.8|MESH:C562798|Orphanet:2967|GARD:0005239 https://rarediseases.info.nih.gov/diseases/5239/transcobalamin-1-deficiency owl:Class MONDO:0016739 biolink:NamedThing yolk sac tumor of central nervous system A malignant germ cell tumor of the central nervous system composed of primitive-appearing epithelial cells - putatively representing yolk sac endoderm - set in a loose, variably cellular, and often conspicuously myxoid matrix, resembling extra-embryonic mesoblast. Eosinophilic hyaline globules immunoreactive for AFP are a diagnostic feature. (WHO) tmpaxzxjjyw_mondo_relaxed.owl yolk Sac tumor of central nervous system|yolk Sac tumor of the central nervous system|yolk sac tumor of CNS|yolk Sac tumor of the CNS|endodermal sinus tumor of central nervous system|endodermal sinus tumor of CNS|CNS yolk Sac tumor|intracranial yolk sac tumor|central nervous system yolk Sac tumor|yolk Sac tumor of CNS|intracranial endodermal sinus tumor UMLS:CN201987|Orphanet:252006|NCIT:C7011 owl:Class MONDO:0013741 biolink:NamedThing familial temporal lobe epilepsy 5 A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13. tmpaxzxjjyw_mondo_relaxed.owl epilepsy, familial temporal lobe, type 5|ETL5|familial temporal lobe epilepsy type 5|epilepsy, familial temporal lobe, 5 OMIM:614417|Orphanet:163717|UMLS:C3280730|Orphanet:165805|DOID:0060752 owl:Class MONDO:0017819 biolink:NamedThing atypical dentin dysplasia due to SMOC2 deficiency tmpaxzxjjyw_mondo_relaxed.owl dentin dysplasia type 1 with microdontia and shape anomalies Orphanet:314721|UMLS:CN203789|OMIM:125400|ICD10:K00.5 owl:Class MONDO:0019630 biolink:NamedThing congenital ectropion uveae Congenital ectropion uveae is a rare, genetic, non-syndromic developmental defect of the eye characterized by the presence of iris pigment epithelium on the anterior surface of the iris, anterior insertion of the iris, angle dysgenesis and progressive open-angle glaucoma (the latter may present in infancy or may develop later in life). Patients may manifest with headaches, ocular pain, photophobia, and redness, watering and/or swelling of the eye. It can often be associated with neurofibromatosis and less commonly with other ocular abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:91491|ICD10:Q10.1 owl:Class MONDO:0011143 biolink:NamedThing cone-rod dystrophy 6 Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene. tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy type 6|CORD6|cone-rod dystrophy caused by mutation in GUCY2D|RCD2|cone-rod dystrophy 6|GUCY2D cone-rod dystrophy|retinal cone dystrophy 2 UMLS:C1866293|GARD:0010656|DOID:0111011|OMIM:601777|MESH:C538363 owl:Class MONDO:0012916 biolink:NamedThing chromosome 2p16.1-p15 deletion syndrome 2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl Del(2)(p15p16.1)|2p15-p16.1 microdeletion syndrome|monosomy 2p15p16.1|2p15p16.1 microdeletion syndrome|chromosome 2p16.1-p15 deletion syndrome|monosomy 2p15-p16.1 UMLS:C4304538|OMIM:612513|ICD10:Q93.5|GARD:0013391|DOID:0060415|Orphanet:261349|UMLS:C2675875|MESH:C567289|SCTID:719651000 owl:Class HP:0045084 biolink:NamedThing Limb myoclonus tmpaxzxjjyw_mondo_relaxed.owl Myoclonus of limbs Limb myoclonus was noted in Early myoclonic encephalopathy. See PMID:27789573 human_phenotype owl:Class HP:0001336 biolink:NamedThing Myoclonus Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. tmpaxzxjjyw_mondo_relaxed.owl Involuntary jerking movements|Myoclonic jerks|Jerking MSH:D009207|UMLS:C1854302|UMLS:C0027066|SNOMEDCT_US:127324008|SNOMEDCT_US:17450006 Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal. HP:0002535|HP:0007087 human_phenotype owl:Class CHEBI:50846 biolink:NamedThing immunomodulator Biologically active substance whose activity affects or plays a role in the functioning of the immune system. tmpaxzxjjyw_mondo_relaxed.owl Immune factor|Immunological factor|Biomodulator|Immunologic factor|immunomodulators owl:Class MONDO:0006491 biolink:NamedThing vulvar lichen sclerosus A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia. tmpaxzxjjyw_mondo_relaxed.owl lichen sclerosus et atrophicus of mammalian vulva|vulvar lichen sclerosus|mammalian vulva lichen sclerosus et atrophicus NCIT:C27723|EFO:1000623|UMLS:C0022783|MESH:D007724 owl:Class SO:0001507 biolink:NamedThing variant_collection A collection of one or more sequences of an individual. tmpaxzxjjyw_mondo_relaxed.owl variant collection owl:Class MONDO:0001190 biolink:NamedThing Brucella suis brucellosis An disease or disorder caused by infection with Brucella suis. tmpaxzxjjyw_mondo_relaxed.owl Brucella suis caused disease or disorder|Brucella suis infectious disease|Brucella suis disease or disorder DOID:11076 owl:Class MONDO:0004454 biolink:NamedThing cellular congenital mesoblastic nephroma A congenital mesoblastic nephroma characterized by increased cellularity, sheet-like proliferation of fibroblastic cells, and increased mitotic activity. Necrotic changes are commonly present. tmpaxzxjjyw_mondo_relaxed.owl cellular congenital mesoblastic nephroma DOID:8082|NCIT:C39815|UMLS:C1516474 owl:Class MONDO:0013646 biolink:NamedThing chromosome 8q21.11 deletion syndrome 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. tmpaxzxjjyw_mondo_relaxed.owl monosomy 8q21.11|8q21.11 microdeletion syndrome|Del(8)(q21.11)|chromosome 8q21.11 deletion syndrome|deletion 8q21.11 UMLS:C3280231|ICD10:Q93.5|OMIM:614230|Orphanet:284160|UMLS:C4305343|DOID:0060425|SCTID:718615003 owl:Class MONDO:0024363 biolink:NamedThing rapid eye movement sleep disorder tmpaxzxjjyw_mondo_relaxed.owl repeated rapid eye movement sleep interruptions ICD9:379.59|SCTID:192004002 owl:Class ENVO:01000317 biolink:NamedThing aquatic environment An environment whose dynamics are strongly influenced by water. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020324 biolink:NamedThing intravascular large B-cell lymphoma Intravascular large B-cell lymphoma (IVLBCL) is a very rare form of diffuse large B-cell lymphoma characterized by the selective growth of lymphoma cells within the lumina of small blood vessels (especially the capillaries) that most often presents with a wide range of clinical manifestations (as potentially any tissue can be involved), with patients from Western countries more frequently manifesting with neurological and cutaneous symptoms while patients from Asian countries more frequently displaying hepatosplenomegaly and thrombocytopenia. IVLBCL is characterized by an absence of lymphadenopathy, an aggressive clinical course and a poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl Tappeiner-Pfleger disease|intravascular B-cell lymphoma|angiotropic large cell lymphoma|intravascular lymphomatosis|malignant angioendotheliomatosis|angiotropic lymphoma|intravascular large B-cell lymphoma|angioendotheliomatosis proliferans systemisata|IVBCL Orphanet:98839|ICDO:9712/3|ONCOTREE:IVBCL|SCTID:255102004|MedDRA:10069643|ICD10:C83.3|UMLS:CN207146|NCIT:C4342|ICD9:202.80 owl:Class MONDO:0010757 biolink:NamedThing widow's peak syndrome tmpaxzxjjyw_mondo_relaxed.owl widow's peak, ptosis, and skeletal anomalies|widow's peak syndrome MESH:C564040|OMIM:314570|UMLS:C1839112 owl:Class MONDO:0001554 biolink:NamedThing phacogenic glaucoma Secondary glaucoma caused by either excessive size or spheric shape of the lens. tmpaxzxjjyw_mondo_relaxed.owl lens swelling glaucoma|lens induced angle closure glaucoma|phacomorphic glaucoma SCTID:392300000|UMLS:C0339590|DOID:12571|ICD9:365.59 owl:Class MONDO:0002948 biolink:NamedThing skin fibroepithelial basal cell carcinoma A variant of basal cell carcinoma presenting as an elevated or erythematous nodular lesion usually in the back. Morphologically, it is characterized by the presence of cords of basaloid cells extending from the epidermis into the dermis, creating a fenestrating pattern. It follows an indolent course. tmpaxzxjjyw_mondo_relaxed.owl fibroepithelioma of Pinkus type|Pinkus tumor|fibroepithelial basal cell carcinoma|fibroepithelioma of Pinkus ICDO:8093/3|DOID:4291|UMLS:C0346013|NCIT:C4109|SCTID:254703005 owl:Class HGNC:19857 biolink:NamedThing ISCA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050764 biolink:NamedThing regulation of phagocytosis Any process that modulates the frequency, rate or extent of phagocytosis, the process in which phagocytes engulf external particulate material. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0042969 biolink:NamedThing partial duplication of the long arm of chromosome 12 Chromosome 12q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 12. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 12q duplication include developmental delay, intellectual disability, behavioral problems, growth delay, and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl 12q trisomy|12q duplication|Duplication 12q|chromosome 12q duplication|trisomy 12q|partial trisomy 12q GARD:0001926|UMLS:C0795846|MESH:C538300 owl:Class MONDO:0042968 biolink:NamedThing partial duplication of chromosome 12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015304 biolink:NamedThing arachnoiditis Arachnoiditis (ARC) is a chronic inflammation of the arachnoid layer of the meninges, of which adhesive arachnoiditis is the most severe form, characterized by debilitating, intractable neurogenic back and limb pain and a range of other neurological problems. tmpaxzxjjyw_mondo_relaxed.owl chronic arachnoiditis|inflammation of arachnoid mater|adhesive arachnoiditis|arachnoid mater inflammation UMLS:C0003708|UMLS:C0270617|SCTID:13980006|MedDRA:10003074|ICD10:G03.9|NCIT:C37913|OMIM:182950|ICD10:G03|MESH:D001100|Orphanet:137817|GARD:0005839|DOID:12156 owl:Class CL:0000023 biolink:NamedThing oocyte A female germ cell that has entered meiosis. tmpaxzxjjyw_mondo_relaxed.owl oogonium CALOHA:TS-0711|WBbt:0006797|FMA:18644|FBbt:00004886|BTO:0000964 cell owl:Class MONDO:0011961 biolink:NamedThing hereditary sensory and autonomic neuropathy type 1B Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR). tmpaxzxjjyw_mondo_relaxed.owl HSAN1B|neuropathy, hereditary sensory and autonomic, type I, with cough and gastroesophageal reflux|HSAN with cough and gastroesophageal reflux|hereditary sensory and autonomic neuropathy type IB|neuropathy, hereditary sensory and autonomic, type 1B|hereditary sensory neuropathy type IB|hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux|neuropathy, hereditary sensory, type 1B|hereditary sensory neuropathy type 1B UMLS:C4303567|MESH:C564296|PMID:12870133|PMID:16311270|OMIM:608088|SCTID:717825008|ICD10:G60.8|Orphanet:139564|DOID:0070148|UMLS:C1842586 owl:Class GO:1990837 biolink:NamedThing sequence-specific double-stranded DNA binding Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. tmpaxzxjjyw_mondo_relaxed.owl sequence-specific dsDNA binding owl:Class GO:0043565 biolink:NamedThing sequence-specific DNA binding Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. tmpaxzxjjyw_mondo_relaxed.owl sequence specific DNA binding owl:Class GO:0030210 biolink:NamedThing heparin biosynthetic process The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. tmpaxzxjjyw_mondo_relaxed.owl heparan sulfate biosynthetic process|heparin synthesis|heparin biosynthesis|heparin formation|heparin anabolism owl:Class MONDO:0032820 biolink:NamedThing neurodevelopmental disorder with structural brain anomalies and dysmorphic facies tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES|NEDBAF OMIM:618577 owl:Class MONDO:0017622 biolink:NamedThing congenital sucrase-isomaltase deficiency without sucrose intolerance tmpaxzxjjyw_mondo_relaxed.owl congenital sucrose-isomaltose malabsorption without sucrose intolerance|disaccharide intolerance without sucrose intolerance|CSID without sucrose intolerance Orphanet:306486|ICD10:E74.3 owl:Class MONDO:0030025 biolink:NamedThing neurodevelopmental disorder with hypotonia, microcephaly, and seizures tmpaxzxjjyw_mondo_relaxed.owl NEDHYMS|neurodevelopmental disorder with hypotonia, microcephaly, and seizures|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES OMIM:618862 owl:Class MONDO:0017880 biolink:NamedThing Rift valley fever Rift Valley fever (RVF), caused by the Rift Valley fever virus (RVFV), is an arbovirus characterized by a usually self-limiting febrile illness but that in some cases can also manifest with thrombosis, vision loss, hemorrhages and/or neurological symptoms. tmpaxzxjjyw_mondo_relaxed.owl RVF ICD10:A92.4|UMLS:C0035613|SCTID:402917003|DOID:1328|NCIT:C128419|MESH:D012295|MedDRA:10039143|Orphanet:319251 owl:Class MONDO:0004185 biolink:NamedThing ovarian serous cystadenofibroma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. tmpaxzxjjyw_mondo_relaxed.owl ovarian serous cystadenofibroma|ovary serous cystadenofibroma DOID:7320|UMLS:C0877572|NCIT:C40032 owl:Class MONDO:0006340 biolink:NamedThing ovarian serous adenofibroma A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma. tmpaxzxjjyw_mondo_relaxed.owl serous adenofibroma of ovary|ovarian serous adenofibroma|ovary serous adenofibroma NCIT:C40031|DOID:5474|UMLS:C1518729|EFO:1000428 owl:Class MONDO:0019905 biolink:NamedThing ring chromosome 9 Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies. tmpaxzxjjyw_mondo_relaxed.owl Ring chromosome 9 syndrome|chromosome 9 ring|r9|Ring chromosome type 9|Ring 9 SCTID:60650002|UMLS:CN036105|ICD10:Q93.2|GARD:0001348|Orphanet:96173|MESH:C538022 https://rarediseases.info.nih.gov/diseases/1348/ring-chromosome-9 owl:Class UBERON:0001816 biolink:NamedThing autonomic nerve plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14889 biolink:NamedThing DNAJB11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:50334 biolink:NamedThing pyridinium ion tmpaxzxjjyw_mondo_relaxed.owl pyridinium ions owl:Class UBERON:0016565 biolink:NamedThing cerebral blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016750 biolink:NamedThing microcephaly-cleft palate syndrome Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. tmpaxzxjjyw_mondo_relaxed.owl Halal syndrome|microcephaly-cleft palate-abnormal retinal pigmentation syndrome|microcephaly cleft palate autosomal dominant GARD:0008623|ICD10:Q87.8|Orphanet:2521|SCTID:719394002|MESH:C535622|UMLS:C2930954 owl:Class CHEBI:50315 biolink:NamedThing chloronium tmpaxzxjjyw_mondo_relaxed.owl H2Cl(+)|[ClH2](+)|chloranium|chloronium owl:Class MONDO:0021168 biolink:NamedThing hibernoma A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults. tmpaxzxjjyw_mondo_relaxed.owl hibernoma|Brown fat tumor|hibernoma, benign|fetal fat cell lipoma|Brown fat neoplasm UMLS:C0205822|NCIT:C3702|SCTID:404064001|ICDO:8880/0 owl:Class PATO:0001997 biolink:NamedThing decreased amount An amount which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl subnumerary|present in fewer numbers in organism|decreased number|decreased|reduced owl:Class UBERON:0010986 biolink:NamedThing serratus ventralis pre-muscle mass tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0056802 biolink:NamedThing synovial bursa disorder A disease or disorder that involves the synovial bursa. tmpaxzxjjyw_mondo_relaxed.owl disease of synovial bursa|disease or disorder of synovial bursa|disorder of bursa|disorder of synovial bursa|synovial bursa disease or disorder UMLS:C0263946|SCTID:10597006 owl:Class MONDO:0004719 biolink:NamedThing hard palate cancer A malignant neoplasm involving the hard palate. tmpaxzxjjyw_mondo_relaxed.owl cancer of hard palate|malignant neoplasm of hard palate|malignant tumor of the hard palate|malignant tumor of hard palate|malignant neoplasm of the hard palate|hard palate cancer|hard palate|malignant hard palate tumor|malignant tumour of hard palate|malignant hard palate neoplasm ICD10:C05.0|DOID:9149|UMLS:C0153375|SCTID:363387004|NCIT:C3528|ICD9:145.2 owl:Class MONDO:0007750 biolink:NamedThing hypercholesterolemia, familial, 1 tmpaxzxjjyw_mondo_relaxed.owl hypercholesterolemia, familial|hyperlipoproteinemia, type 2A|hyper-low-density-lipoproteinemia|low density lipoprotein cholesterol level quantitative trait locus 2|hyperlipoproteinemia, type 2|hypercholesterolemia, familial, 1|LDL receptor disorder|FHCL1|hypercholesterolemic xanthomatosis, familial|FHC SCTID:398036000|OMIM:143890|Orphanet:391665 owl:Class GO:1903336 biolink:NamedThing negative regulation of vacuolar transport Any process that stops, prevents or reduces the frequency, rate or extent of vacuolar transport. tmpaxzxjjyw_mondo_relaxed.owl inhibition of vacuolar transport|down-regulation of vacuolar transport|down regulation of vacuolar transport|downregulation of vacuolar transport owl:Class MONDO:0030028 biolink:NamedThing neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline tmpaxzxjjyw_mondo_relaxed.owl neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline|CONATOC|NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE OMIM:618868 owl:Class MONDO:0003185 biolink:NamedThing adenoid cystic breast carcinoma An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent. tmpaxzxjjyw_mondo_relaxed.owl adenoid cystic breast carcinoma|adenoid cystic carcinoma of the breast|adenocystic carcinoma of breast|adenoid cystic breast cancer|adenoid cystic carcinoma of breast|adenocystic carcinoma of the breast|mammary adenocystic carcinoma|breast adenoid cystic carcinoma|adenocystic breast carcinoma|mammary adenoid cystic carcinoma ONCOTREE:ACBC|DOID:4877|UMLS:C1332167|NCIT:C5130|EFO:1000071 owl:Class MONDO:0001493 biolink:NamedThing chronic pulmonary heart disease Heart disease which occurs as a result of a primary pulmonary disease. Cor pulmonale most often manifests as right ventricular hypertrophy; it can also lead to right ventricular failure. tmpaxzxjjyw_mondo_relaxed.owl Cor pulmonale NCIT:C34478|SCTID:87837008|ICD9:416.9|ICD9:416.8|UMLS:C0238074|DOID:12326 owl:Class MONDO:0003830 biolink:NamedThing type 1 papillary adenoma of the kidney tmpaxzxjjyw_mondo_relaxed.owl type 1 renal papillary adenoma|type 1 papillary adenoma of the kidney DOID:6258|UMLS:C1519706|NCIT:C39809 owl:Class PATO:0000608 biolink:NamedThing closed A morphological quality inhering in a bearer by virtue of the bearer's affording blocked passage or view. tmpaxzxjjyw_mondo_relaxed.owl blocked owl:Class PATO:0000136 biolink:NamedThing closure A morphological quality pertaining to the degree to which an object contains an opening, aperture, orifice or vent. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022978 biolink:NamedThing diaphragmatic hernia upper limb defects tmpaxzxjjyw_mondo_relaxed.owl GARD:0001847 https://rarediseases.info.nih.gov/diseases/1847/diaphragmatic-hernia-upper-limb-defects owl:Class GO:0001539 biolink:NamedThing cilium or flagellum-dependent cell motility Cell motility due to movement of eukaryotic cilia or bacterial-type flagella or archaeal-type flagella. tmpaxzxjjyw_mondo_relaxed.owl ciliary or bacterial-type flagellar motility|ciliary/flagellar motility owl:Class MONDO:0009843 biolink:NamedThing hypomyelinating leukodystrophy 3 Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene. tmpaxzxjjyw_mondo_relaxed.owl hypomyelinating leukodystrophy type 3|hypomyelinating leukodystrophy 3|AIMP1 leukodystrophy|leukodystrophy caused by mutation in AIMP1|HLD3|perinatal Sudanophilic leukodystrophy|leukodystrophy, hypomyelinating 3|leukodystrophy, hypomyelinating, 3|leukodystrophy, hypomyelinating, type 3|Pelizaeus-Merzbacher-like disease due to AIMP1 mutation MESH:C536319|DOID:0060790|OMIM:260600|ICD10:E75.2|Orphanet:280270|GARD:0004266|Orphanet:280293|UMLS:C1850053 https://rarediseases.info.nih.gov/diseases/4266/leukodystrophy-hypomyelinating-3 owl:Class GO:1901228 biolink:NamedThing positive regulation of transcription from RNA polymerase II promoter involved in heart development Any positive regulation of transcription from RNA polymerase II promoter that is involved in heart development. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of global transcription from RNA polymerase II promoter involved in cardiac development|up-regulation of transcription from RNA polymerase II promoter involved in cardiac development|up-regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|upregulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in heart development|upregulation of global transcription from RNA polymerase II promoter involved in cardiac development|activation of transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of transcription from RNA polymerase II promoter involved in heart development|up-regulation of transcription from RNA polymerase II promoter involved in heart development|stimulation of transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of transcription from Pol II promoter involved in cardiac development|upregulation of global transcription from RNA polymerase II promoter involved in heart development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in cardiac development|stimulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of transcription from Pol II promoter involved in dorsal vessel development|up-regulation of global transcription from RNA polymerase II promoter involved in heart development|positive regulation of global transcription from Pol II promoter involved in dorsal vessel development|upregulation of transcription from RNA polymerase II promoter involved in heart development|up regulation of global transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|activation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in dorsal vessel development|activation of transcription from RNA polymerase II promoter involved in cardiac development|upregulation of transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of global transcription from Pol II promoter involved in heart development|stimulation of global transcription from RNA polymerase II promoter involved in heart development|activation of global transcription from RNA polymerase II promoter involved in cardiac development|activation of global transcription from RNA polymerase II promoter involved in heart development|stimulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|up-regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|stimulation of transcription from RNA polymerase II promoter involved in heart development|up regulation of global transcription from RNA polymerase II promoter involved in dorsal vessel development|up regulation of global transcription from RNA polymerase II promoter involved in heart development|up regulation of transcription from RNA polymerase II promoter involved in cardiac development|activation of transcription from RNA polymerase II promoter involved in heart development|positive regulation of transcription from Pol II promoter involved in heart development|upregulation of transcription from RNA polymerase II promoter involved in dorsal vessel development|stimulation of global transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of transcription from RNA polymerase II promoter involved in cardiac development|positive regulation of global transcription from Pol II promoter involved in cardiac development|up regulation of transcription from RNA polymerase II promoter involved in dorsal vessel development owl:Class MONDO:0034212 biolink:NamedThing methotrexate toxicity tmpaxzxjjyw_mondo_relaxed.owl Orphanet:565782 owl:Class GO:0015925 biolink:NamedThing galactosidase activity Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011052 biolink:NamedThing amelia cleft lip palate hydrocephalus iris coloboma tmpaxzxjjyw_mondo_relaxed.owl brachial AMELIA, cleft LIP, and holoprosencephaly|bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele|brachial amelia, forebrain defects, and Facial clefts|ACLH|amelia cleft lip palate hydrocephalus iris coloboma|brachial amelia, forebrain defects and facial clefts GARD:0000388|OMIM:601357|GARD:0000641|MESH:C536713|UMLS:C1832434 https://rarediseases.info.nih.gov/diseases/641/amelia-cleft-lip-palate-hydrocephalus-iris-coloboma owl:Class MONDO:0040566 biolink:NamedThing inherited glutathione metabolism disease An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process. tmpaxzxjjyw_mondo_relaxed.owl inborn error of glutathione metabolic process|glutathione metabolism disorder, inherited|inborn glutathione metabolic process disorder|inborn error of glutathione metabolism|rare inborn error of glutathione metabolic process SCTID:72262000|UMLS:C0268518 owl:Class MONDO:0014544 biolink:NamedThing osteogenesis imperfecta type 16 An osteogenesis imperfecta that has material basis in contiguous gene deletion on chromosome 11p11. tmpaxzxjjyw_mondo_relaxed.owl chromosome 11p11.2 deletion syndrome 91.3-KB|OI, type 16|OI16|osteogenesis imperfecta type XVI|osteogenesis imperfecta, type 16|osteogenesis imperfecta, type XVI|chromosome 11P11.2 deletion syndrome, 91.3-Kb OMIM:616229|Orphanet:216812|DOID:0110345|ICD10:Q78.0|UMLS:C4015610 owl:Class HGNC:19954 biolink:NamedThing SLC25A22 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007400 biolink:NamedThing Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients. tmpaxzxjjyw_mondo_relaxed.owl Jackson-Weiss syndrome|JWS|craniosynostosis, midfacial hypoplasia, and foot abnormalities|craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome UMLS:C0795998|Orphanet:1540|ICD9:759.89|NCIT:C123814|SCTID:709105005|GARD:0006796|DOID:0111337|ICD10:Q87.8|MESH:C537559|OMIM:123150 https://rarediseases.info.nih.gov/diseases/6796/jackson-weiss-syndrome owl:Class MONDO:0016326 biolink:NamedThing lysosomal disease with hypertrophic cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN201159|Orphanet:217581 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: lysosomal storage disease' MONDO_0002561 owl:Class MONDO:0037253 biolink:NamedThing ovarian thecoma A stromal tumor that arises from the ovary and is characterized by the presence of cells that contain lipid and resemble theca cells. The vast majority of cases are benign. tmpaxzxjjyw_mondo_relaxed.owl ovarian thecoma|thecoma of the ovary|theca cell neoplasm of the ovary|theca cell tumor of the ovary|ovary thecoma|theca cell tumor of ovary|thecoma of ovary|theca cell neoplasm of ovary|ovarian theca cell neoplasm|ovarian theca cell tumor NCIT:C66989|SCTID:254864005 owl:Class MONDO:0037252 biolink:NamedThing thecoma An ovarian or testicular stromal tumor characterized by the presence of lipid-rich neoplastic spindle cells. In females, uterine bleeding is the most common symptom. A minority of post-menopausal women with thecoma have an associated endometrial adenocarcinoma or rarely a malignant mixed mullerian tumor or endometrial stromal sarcoma. Rare cases with nuclear atypia and mitotic activity may metastasize. In males, thecomas are rare and they usually present as slow growing, sometimes painful masses. Metastases have not been reported. tmpaxzxjjyw_mondo_relaxed.owl thecoma NCIT:C3405|ICDO:8600/0|MESH:D013798 owl:Class SO:0001524 biolink:NamedThing chromosomally_aberrant_genome When a genome contains an abnormal amount of chromosomes. tmpaxzxjjyw_mondo_relaxed.owl chromosomally aberrant genome owl:Class SO:0001506 biolink:NamedThing variant_genome A collection of sequences (often chromosomes) of an individual. tmpaxzxjjyw_mondo_relaxed.owl variant genome owl:Class GO:0002263 biolink:NamedThing cell activation involved in immune response A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand, leading to the initiation or perpetuation of an immune response. tmpaxzxjjyw_mondo_relaxed.owl cell activation during immune response owl:Class GO:0010975 biolink:NamedThing regulation of neuron projection development Any process that modulates the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). tmpaxzxjjyw_mondo_relaxed.owl regulation of neurite development|regulation of neurite growth|regulation of neurite biosynthesis|regulation of neurite formation owl:Class MONDO:0021908 biolink:NamedThing aplasia cutis congenita dominant Aplasia cutis congenita with with autosomal dominant inheritance with reduced penetrance. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000751 https://rarediseases.info.nih.gov/diseases/751/aplasia-cutis-congenita-dominant owl:Class MONDO:0042499 biolink:NamedThing benign familial neonatal-infantile seizures 1 tmpaxzxjjyw_mondo_relaxed.owl benign infantile familial convulsions|benign infantile familial convulsions 1|seizures, benign familial infantile, 1|benign familial infantile convulsions syndrome 1|BFIS1|benign familial infantile convulsions syndrome|convulsions, benign familial infantile, 1|BFIC1 GARD:0000856|Orphanet:306|OMIM:601764 owl:Class MONDO:0015675 biolink:NamedThing distomatosis Distomatosis is a group of parasitoses caused by flat worms that live in contact with epitheliums. Clinical classification depends on the organ infected by the adult parasite: liver, lungs, or intestines. tmpaxzxjjyw_mondo_relaxed.owl fluke infection|distomiasis ICD9:121.8|GARD:0001891|SCTID:26089000|Orphanet:1685|ICD9:121.9 https://rarediseases.info.nih.gov/diseases/1891/distomatosis owl:Class ENVO:01001549 biolink:NamedThing freezing of water into water ice A freezing process during which liquid water is transformed into water ice. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001548 biolink:NamedThing freezing A material congelation process during which a liquid turns into a solid when its temperature is lowered below its melting point. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29812 biolink:NamedThing DCPS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012443 biolink:NamedThing aneurysm, intracranial berry, 4 tmpaxzxjjyw_mondo_relaxed.owl ANIB4|aneurysm, intracranial BERRY, 4 MESH:C565700|OMIM:610213|UMLS:C1857749 owl:Class OBO:CHR_9606-chr9p biolink:NamedThing 9p (Human) tmpaxzxjjyw_mondo_relaxed.owl 43000000 0 hg38 owl:Class MONDO:0017113 biolink:NamedThing isolated bilateral hemispheric cerebellar hypoplasia Isolated bilateral hemispheric cerebellar hypoplasia is a rare cerebellar malformation characterized by hypoplasia of both cerebellar hemispheres with no other cerebellar/cerebral anomaly or other associated clinical feature. Affected patients present with mild hypotonia with motor delay, mild cognitive impairment, language delay, visuospatial and verbal memory deficits, dysdiadochokinesis, intentional tremor, and possible presence of emotional fragility and mild depression. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:269221|ICD10:Q04.3 owl:Class MONDO:0020131 biolink:NamedThing malformation of the cerebellar hemispheres tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q04.3|Orphanet:98516 owl:Class MONDO:0024463 biolink:NamedThing ovarian dysgenesis 1 tmpaxzxjjyw_mondo_relaxed.owl gonadal dysgenesis, XX type|ovarian failure, hypergonadotropic|ovarian dysgenesis, hypergonadotropic, with normal karyotype|gonadal dysgenesis, 20 type|XXGD|ovarian dysgenesis 1|XX gonadal dysgenesis|ODG1|ovarian dysgenesis, hypergonadotropic, autosomal recessive OMIM:233300|Orphanet:243|DOID:0080493|UMLS:C0949595 owl:Class MONDO:0015744 biolink:NamedThing distal trisomy 19q Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations. tmpaxzxjjyw_mondo_relaxed.owl telomeric duplication 19q|distal trisomy type 19q|trisomy 19qter|distal duplication 19q ICD10:Q92.3|Orphanet:1717|SCTID:766052008 owl:Class MONDO:0016969 biolink:NamedThing partial duplication of the long arm of chromosome 19 tmpaxzxjjyw_mondo_relaxed.owl partial duplication of chromosome 19q|partial trisomy 19q|partial trisomy of chromosome 19q|Duplication 19q|partial duplication of the long arm of chromosome type 19|trisomy 19q|partial trisomy of the long arm of chromosome 19|19q trisomy|19q duplication|chromosome 19q duplication MESH:C538311|GARD:0005326|Orphanet:262986|UMLS:C0795871 owl:Class UBERON:0022292 biolink:NamedThing splenic arteriole tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18672 biolink:NamedThing CDK5RAP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001411 biolink:NamedThing structured A structural quality inhering in a bearer by virtue of the bearer's having distinct structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070008 biolink:NamedThing serine-type exopeptidase activity Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008238 biolink:NamedThing exopeptidase activity Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain, in a reaction that requires a free N-terminal amino group, C-terminal carboxyl group or both. tmpaxzxjjyw_mondo_relaxed.owl exoprotease activity owl:Class CHEBI:33563 biolink:NamedThing glycolipid Any member of class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar part acylated by one or more fatty acids and the glycerol part may be absent. tmpaxzxjjyw_mondo_relaxed.owl Glycolipid|glycolipids owl:Class NCBITaxon:49274 biolink:NamedThing Solanum subgen. Lycopersicon tmpaxzxjjyw_mondo_relaxed.owl Lycopersicon GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019652 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93214|ICD10:N04.3|UMLS:CN206525 owl:Class GO:1903049 biolink:NamedThing negative regulation of acetylcholine-gated cation channel activity Any process that stops, prevents or reduces the frequency, rate or extent of acetylcholine-gated cation channel activity. tmpaxzxjjyw_mondo_relaxed.owl downregulation of acetylcholine-gated cation channel activity|down regulation of acetylcholine-gated cation channel activity|inhibition of acetylcholine-gated cation channel activity|down-regulation of acetylcholine-gated cation channel activity owl:Class NCBITaxon:227984 biolink:NamedThing SARS coronavirus Tor2 tmpaxzxjjyw_mondo_relaxed.owl SARS Tor2|Severe acute respiratory syndrome-related coronavirus Tor2 GC_ID:1 ncbi_taxonomy owl:Class UBERON:0008000 biolink:NamedThing sesamoid bone of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001147 biolink:NamedThing meningocele A congenital abnormality in which the meninges protrude through a defect in the spinal column or the cranium. tmpaxzxjjyw_mondo_relaxed.owl meningocele|meningocele (disease)|central nervous system meningocele|spinal meningocele meningocele (disease) GARD:0003471|NCIT:C105595|HP:0002435|SCTID:171131006|MESH:D008588|DOID:1088|UMLS:C0025299|Orphanet:93968|NCIT:C101209 owl:Class UBERON:0004906 biolink:NamedThing ectodermal part of digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012830 biolink:NamedThing chromosome 10q23 deletion syndrome 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. tmpaxzxjjyw_mondo_relaxed.owl chromosome 10Q22.3-q23.2 deletion syndrome|chromosome 10q22.3-q23.2 deletion syndrome|deletion 10q22.3q23.3|Del(10)(q22.3q23.3)|monosomy 10q22.3q23.3|chromosome 10q23 deletion syndrome|10q22.3q23.3 microdeletion syndrome|juvenile polyposis, infantile|juvenile polyposis of infancy|10q22.3q23 microdeletion syndrome Orphanet:276413|UMLS:CN202618|DOID:0060389|Orphanet:79076|OMIM:612242|Orphanet:2929|ICD10:Q93.5|MESH:C567385|UMLS:C2677102|GARD:0013018 owl:Class MONDO:0008012 biolink:NamedThing Monophalangy of great toe tmpaxzxjjyw_mondo_relaxed.owl Monophalangy of great toe OMIM:158100|MESH:C563570|UMLS:C1834753 owl:Class MONDO:0003743 biolink:NamedThing heart malignant hemangiopericytoma A malignant hemangiopericytoma arising in the heart. tmpaxzxjjyw_mondo_relaxed.owl heart hemangiopericytoma|malignant hemangiopericytoma of the heart|malignant hemangiopericytoma of heart|malignant Cardiac hemangiopericytoma|heart spindle cell tumor|malignant heart hemangiopericytoma NCIT:C5365|UMLS:C1334567|DOID:6034 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0043783 biolink:NamedThing sclerema neonatorum A diffuse hardening of skin and subcutaneous adipose tissue, associated with minimal inflammation without fat necrosis, that typically affects critically ill preterm neonates during the first week of life. tmpaxzxjjyw_mondo_relaxed.owl underwood's disease|sclerema neonatorum|sclerema adiposum NCIT:C35009|MESH:D012593|SCTID:206539008 owl:Class CHEBI:48901 biolink:NamedThing thiazoles An azole in which the five-membered heterocyclic aromatic skeleton contains a N atom and one S atom. tmpaxzxjjyw_mondo_relaxed.owl thiazole owl:Class MONDO:0009269 biolink:NamedThing geleophysic dysplasia 1 Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene. tmpaxzxjjyw_mondo_relaxed.owl Geleophysic dysplasia type 1|ADAMTSL2 geleophysic dysplasia|GPHYSD1|GELEOPHYSIC dysplasia 1|geleophysic dysplasia caused by mutation in ADAMTSL2|geleophysic dysplasia 1 Orphanet:2623|DOID:0111725|UMLS:C3278147|OMIM:231050 owl:Class MONDO:0003136 biolink:NamedThing anti-basement membrane glomerulonephritis Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function. tmpaxzxjjyw_mondo_relaxed.owl anti-GBM antibody disease|anti-glomerular basement Membrane antibody disease NCIT:C35798|DOID:4780|UMLS:C1332309 owl:Class MONDO:0008882 biolink:NamedThing congenital bowing of long bones Long bone bowing is a congenital condition described by the presence of symmetric or asymmetric angular deformity and shortening of the long bones, particularly the femurs, tibiae and ulnae. tmpaxzxjjyw_mondo_relaxed.owl bowing of long bones, asymmetric and symmetric|bowing of long bones congenital ICD10:Q68.5|ICD10:Q68.8|MedDRA:10054064|OMIM:264050|Orphanet:2292|ICD10:Q68.4|ICD10:Q68.3|OMIM:211355|SCTID:716098006|GARD:0000953 https://rarediseases.info.nih.gov/diseases/953/bowing-of-long-bones-congenital owl:Class MONDO:0010153 biolink:NamedThing trichoodontoonychial dysplasia Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983. tmpaxzxjjyw_mondo_relaxed.owl trichoodontoonychial dysplasia with bone deficiency in frontoparietal region|trichoodontoonychial dysplasia with bone deficiency SCTID:766813000|MESH:C564760|Orphanet:3355|GARD:0005267|OMIM:275450|UMLS:C3502453 https://rarediseases.info.nih.gov/diseases/5267/trichoodontoonychial-dysplasia owl:Class HGNC:4845 biolink:NamedThing HCN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016777 biolink:NamedThing inhalational botulism Inhalational botulism is a man-made form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs). tmpaxzxjjyw_mondo_relaxed.owl inhalation botulism Orphanet:254504|SCTID:409562009|ICD10:A05.1|UMLS:C1443900 owl:Class NCBITaxon:2704949 biolink:NamedThing Trypanosomatida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2704647 biolink:NamedThing Metakinetoplastina tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001459 biolink:NamedThing skin of external ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018096 biolink:NamedThing Weill-Marchesani syndrome Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma. tmpaxzxjjyw_mondo_relaxed.owl spherophakia brachymorphia syndrome|mesodermal dysmorphodystrophy congenital|WMS|Marchesani-Weill syndrome|mesodermal Dysmorphodystrophy, congenital|congenital mesodermal dystrophy|WM syndrome|spherophakia-brachymorphia syndrome NCIT:C85226|DOID:0050475|OMIM:608328|MedDRA:10064963|ICD9:759.89|GARD:0004936|UMLS:C0265313|OMIM:613195|MESH:D056846|OMIMPS:277600|OMIM:614819|SCTID:2884008|OMIM:277600|ICD10:Q87.0|Orphanet:3449 owl:Class MONDO:0004078 biolink:NamedThing mucinous intrahepatic cholangiocarcinoma An intrahepatic cholangiocarcinoma that produces abundant mucin. tmpaxzxjjyw_mondo_relaxed.owl mucin-producing intrahepatic cholangiocarcinoma|mucinous intrahepatic cholangiocarcinoma NCIT:C41618|DOID:7024|UMLS:C1513718 owl:Class HGNC:3581 biolink:NamedThing BPTF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032805 biolink:NamedThing hypopigmentation, organomegaly, and delayed myelination and development tmpaxzxjjyw_mondo_relaxed.owl HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT|HOD OMIM:618541 owl:Class MONDO:0014039 biolink:NamedThing mitochondrial DNA depletion syndrome 11 Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported. tmpaxzxjjyw_mondo_relaxed.owl mtDNA maintenance syndrome due to MGME1 deficiency|progressive external ophthalmoplegia-myopathy-emaciation syndrome|mitochondrial DNA depletion syndrome caused by mutation in MGME1|mitochondrial DNA maintenance syndrome due to MGME1 deficiency|MTDPS11|mitochondrial DNA depletion syndrome type 11|PEO-myopathy-emaciation syndrome|MGME1 mitochondrial DNA depletion syndrome|mitochondrial DNA depletion syndrome 11 OMIM:615084|DOID:0080129|UMLS:C3554462|ICD10:G71.3|Orphanet:352447 owl:Class MONDO:0100026 biolink:NamedThing myoclonic encephalopathy in non-progressive disorder This group of epilepsies are typically is characterized by onset of seizures from day 1 of life to 5 years (peak 12 months). Both sexes are affected, however the male to female ratio is 1:2. Antecedent (including birth) history, head size, neurological and developmental findings reflect the underlying cause (if known). Myoclonic status epilepticus is often the initial presenting seizure type, however other initial seizure types may also occur. Prognosis is unfavorable with severe neurological and developmental impairments typically seen. tmpaxzxjjyw_mondo_relaxed.owl 2018-06-22 23:56:39+00:00 owl:Class MONDO:0100022 biolink:NamedThing neonatal/infantile epilepsy syndrome An epilepsy sydrome that has an onset during the neonatal or infantile stage of life. tmpaxzxjjyw_mondo_relaxed.owl 2018-06-22 23:34:03+00:00 http://orcid.org/0000-0001-8486-0558 This type of grouping class represents an older way of classifying diseases, and represented here https://www.epilepsydiagnosis.org/index.html. https://github.com/monarch-initiative/mondo/issues/1640 owl:Class MONDO:0014675 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 104 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 104|deafness, autosomal recessive type 104|autosomal recessive nonsyndromic deafness type 104|RIPOR2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 104|DFNB104|autosomal recessive deafness 104|autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2 UMLS:C4225298|OMIM:616515|ICD10:H90.3|DOID:0110465 owl:Class PO:0004010 biolink:NamedThing meristematic cell A native plant cell (PO:0025606) synthesizing protoplasm and producing new cells by division and with only a primary cell wall. tmpaxzxjjyw_mondo_relaxed.owl 分裂組織細胞 (Japanese, exact)|célula meristemática (Spanish, exact)|stem cell (exact) CL:0000034|PO_GIT:272 plant_anatomy owl:Class PO:0025606 biolink:NamedThing native plant cell A plant cell (PO:0009002) that is either part of a multicellular whole plant (PO:0000003) 'in vivo' or a unicellular organism 'in natura' (i.e. part of a natural environment). tmpaxzxjjyw_mondo_relaxed.owl PO_GIT:586 A native plant cell is one that is not grown or maintained in vitro, nor part of an in vitro plant structure (PO:0000004). Laurel_Cooper 2014-05-13T16:51:47Z plant_anatomy owl:Class UBERON:0003262 biolink:NamedThing amniotic mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003588 biolink:NamedThing forelimb connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004932 biolink:NamedThing submucosa of sigmoid colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033258 biolink:NamedThing hearing loss, autosomal dominant 71 tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 71|deafness, autosomal dominant 71|DFNA71 OMIM:617605|Orphanet:90635|DOID:0080267 owl:Class MONDO:0019179 biolink:NamedThing monosomy 9q22.3 Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. tmpaxzxjjyw_mondo_relaxed.owl microdeletion 9q22.3 Orphanet:77301|UMLS:C3711390|MESH:C579873|ICD10:Q93.5|SCTID:724098008 owl:Class NCIT:C36779 biolink:NamedThing Malignant Epithelial Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000304 biolink:NamedThing penicilliosis A disease caused by infection with Talaromyces marneffei. tmpaxzxjjyw_mondo_relaxed.owl Talaromyces marneffei infectious disease|Penicillium marneffei infectious disease|infection due to Penicillium marneffei|Talaromyces marneffei caused disease or disorder|infection caused by Penicillium marneffei|Talaromyces marneffei disease or disorder|infection caused by Talaromyces marneffei UMLS:C1274008|DOID:0050288|SCTID:372936000|SCTID:713315007 owl:Class MONDO:0008389 biolink:NamedThing autosomal dominant Robinow syndrome Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. tmpaxzxjjyw_mondo_relaxed.owl Robinow syndrome, autosomal dominant|Robinow syndrome, autosomal dominant type|autosomal dominant Robinow syndrome Orphanet:3107|UMLS:CN203673|UMLS:C0265205|Orphanet:97360|OMIM:180700|ICD10:Q87.1|OMIM:616894|OMIM:616331|ICD9:759.89|SCTID:76520005 owl:Class MONDO:0000270 biolink:NamedThing lower respiratory tract disorder A disease involving the lower respiratory tract. tmpaxzxjjyw_mondo_relaxed.owl disorder of lower respiratory tract|lower respiratory tract disease or disorder|lower respiratory tract disease|disease of lower respiratory tract|disease or disorder of lower respiratory tract DOID:0050161|ICD9:478.1|SCTID:128272009|UMLS:C1290325|ICD9:478.19 owl:Class MONDO:0016321 biolink:NamedThing pulmonary interstitial glycogenosis Pulmonary interstitial glycogenosis (PIG) is a rare non-lethal pediatric form of interstitial lung disease (ILD). tmpaxzxjjyw_mondo_relaxed.owl pig|infantile cellular interstitial pneumonitis ICD10:J84.842|Orphanet:217557|UMLS:C3161106|SCTID:707551007|ICD10:P22.8 owl:Class MONDO:0017019 biolink:NamedThing interstitial lung disease specific to infancy tmpaxzxjjyw_mondo_relaxed.owl ILD specific to infancy UMLS:CN202332|Orphanet:264694 owl:Class NCBITaxon:10405 biolink:NamedThing Orthohepadnavirus tmpaxzxjjyw_mondo_relaxed.owl mammalian hepatitis B-type viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009525 biolink:NamedThing split hand-foot malformation 3 The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. tmpaxzxjjyw_mondo_relaxed.owl split hand-foot malformation type 3|split-hand/foot malformation type 3|Buttiens-Fryns syndrome|Shsf3|Buttiens Fryns syndrome|limb deficiencies distal with micrognathia|10q24 microduplication syndrome|chromosome 10q24 duplication syndrome|split-hand/foot malformation 3|distal limb deficiencies-micrognathia syndrome|limb deficiencies, distal, with micrognathia|distal limb deficiencies with micrognathia|split hand-foot malformation 3|SHFM3|chromosome 10Q24 Duplication syndrome ICD10:Q71.6|NCIT:C75121|GARD:0003252|Orphanet:1307|OMIM:246560|Orphanet:2440|UMLS:C0265554|MESH:C565437|DOID:0090025|SCTID:722429003|ICD10:Q92.3 https://rarediseases.info.nih.gov/diseases/3252/limb-deficiencies-distal-with-micrognathia owl:Class GO:1990266 biolink:NamedThing neutrophil migration The movement of a neutrophil within or between different tissues and organs of the body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0097530 biolink:NamedThing granulocyte migration The movement of a granulocyte within or between different tissues and organs of the body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015152 biolink:NamedThing glucose-6-phosphate transmembrane transporter activity Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017011 biolink:NamedThing uniparental disomy of chromosome X tmpaxzxjjyw_mondo_relaxed.owl UPD(X)|uniparental disomy of chromosome type X 2022-04-01 Orphanet:263793|ICD10:Q99.8 Reason: grouping class. Term to consider: none owl:Class GO:2000310 biolink:NamedThing regulation of NMDA receptor activity Any process that modulates the frequency, rate or extent of N-methyl-D-aspartate selective glutamate receptor activity. tmpaxzxjjyw_mondo_relaxed.owl regulation of N-methyl-D-aspartate selective glutamate receptor activity owl:Class HGNC:43 biolink:NamedThing TAP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001392 biolink:NamedThing Abnormality of the liver An abnormality of the liver. tmpaxzxjjyw_mondo_relaxed.owl Liver disease|Abnormal liver|Liver abnormality|Abnormality of the liver UMLS:C4021780|MSH:D008107|UMLS:C0023895|SNOMEDCT_US:235856003 human_phenotype owl:Class HP:0002012 biolink:NamedThing Abnormality of the abdominal organs An abnormality of the viscera of the abdomen. tmpaxzxjjyw_mondo_relaxed.owl Gastrointestinal tract defects|Abnormality of the abdominal organs UMLS:C4021764 The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. human_phenotype owl:Class MONDO:0015102 biolink:NamedThing non-secreting chemodectoma tmpaxzxjjyw_mondo_relaxed.owl non-secreting chemodectoma|non-functioning chemodectoma Orphanet:101106 owl:Class MONDO:0015311 biolink:NamedThing autism-facial port-wine stain syndrome This syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions. tmpaxzxjjyw_mondo_relaxed.owl autism with port-wine stain GARD:0010303|Orphanet:137911|UMLS:CN199278 https://rarediseases.info.nih.gov/diseases/10303/autism-with-port-wine-stain owl:Class MONDO:0042902 biolink:NamedThing Say-Carpenter syndrome tmpaxzxjjyw_mondo_relaxed.owl metaphyseal dysplasia hypertelorism hypospadias|Say Carpenter syndrome GARD:0000240 owl:Class MONDO:0024252 biolink:NamedThing global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:488613 owl:Class GO:0140236 biolink:NamedThing translation at presynapse Translation that occurs at the presynapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001430 biolink:NamedThing deep corneal vascularisation tmpaxzxjjyw_mondo_relaxed.owl deep vascularization of cornea ICD9:370.63|SCTID:2102007|UMLS:C0155095|ICD10:H16.44|DOID:12087 owl:Class MONDO:0006713 biolink:NamedThing corneal neovascularization New blood vessels originating from the corneal veins and extending from the limbus into the adjacent corneal stroma. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as trachoma, viral interstitial keratitis, microbial keratoconjunctivitis, and the immune response elicited by corneal transplantation. tmpaxzxjjyw_mondo_relaxed.owl ICD9:370.60|DOID:11382|ICD9:370.6|ICD10:H16.4|SCTID:19161004|MESH:D016510|MedDRA:10011031|UMLS:C0085109|ICD10:H16.40|EFO:1000880 owl:Class CL:1001225 biolink:NamedThing kidney collecting duct cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001012|Wikipedia:Kidney_collecting_duct_cell cell owl:Class MONDO:0018118 biolink:NamedThing disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:352306|UMLS:CN227265 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited lipid metabolism disorder' MONDO_0002525 owl:Class MONDO:0015293 biolink:NamedThing segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer. tmpaxzxjjyw_mondo_relaxed.owl SOLAMEN syndrome SCTID:763867001|UMLS:CN199243|Orphanet:137608 owl:Class OBO:CHR_9606-chr17p13 biolink:NamedThing 17p13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 10800000 0 hg38 owl:Class MONDO:0002640 biolink:NamedThing optic nerve neoplasm Benign and malignant neoplasms which arise from or metastasize to the optic or second cranial nerve which extends from the optic disc of the eye and joins the optic chiasm. Clinical features may include visual loss, proptosis, and local pain. The majority of optic nerve tumors or optic gliomas. tmpaxzxjjyw_mondo_relaxed.owl tumour of optic nerve|optic nerve tumor|second cranial nerve tumor|optic nerve neoplasms|neoplasm of the second cranial nerve|neoplasms, second cranial nerve|neoplasm of cranial nerve II|tumor of optic nerve|cranial nerve II neoplasm|neoplasms, optic nerve|cranial nerve II neoplasm (disease)|tumor of the second cranial nerve|cranial nerve II neoplasms|tumor of cranial nerve II|neoplasm of second cranial nerve|tumor of the optic nerve|optic nerve neoplasm|second cranial nerve neoplasms|second cranial nerve neoplasm|cranial nerve II tumor|neoplasm of optic nerve|tumor of second cranial nerve|neoplasm of the optic nerve ICD9:239.7|DOID:3419|SCTID:395505000|MESH:D019574|UMLS:C0524802|NCIT:C4801|EFO:1001073 owl:Class MONDO:0001307 biolink:NamedThing corneal abscess An abscess of the cornea. tmpaxzxjjyw_mondo_relaxed.owl SCTID:64366002|DOID:11543|NCIT:C26969|ICD10:H16.31|UMLS:C0155091|ICD9:370.55 Editor note: consider placing in HPO owl:Class MONDO:0006489 biolink:NamedThing vaginal melanoma A primary malignant neoplasm of the vagina composed of malignant melanocytes. tmpaxzxjjyw_mondo_relaxed.owl vagina melanoma|vaginal melanoma|mucosal melanoma of the vulva/vagina|melanoma (disease) of vagina|melanoma of the vagina|vagina melanoma (disease)|melanoma of vagina EFO:1000619|UMLS:C2004576|ONCOTREE:VMM|NCIT:C27394 owl:Class MONDO:0016200 biolink:NamedThing qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - tmpaxzxjjyw_mondo_relaxed.owl qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase type - Orphanet:209203 owl:Class MONDO:0020112 biolink:NamedThing vitamin B12- and folate-independent constitutional megaloblastic anemia tmpaxzxjjyw_mondo_relaxed.owl ICD10:D53.9|Orphanet:98415|ICD10:D53.8|ICD10:D53.2|ICD10:D53.1|ICD10:D53.0 owl:Class UBERON:0034722 biolink:NamedThing mouth roof taste bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045931 biolink:NamedThing positive regulation of mitotic cell cycle Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl stimulation of progression through mitotic cell cycle|up regulation of progression through mitotic cell cycle|activation of progression through mitotic cell cycle|positive regulation of mitotic cell cycle progression|upregulation of progression through mitotic cell cycle|positive regulation of progression through mitotic cell cycle|up-regulation of progression through mitotic cell cycle owl:Class MONDO:0030966 biolink:NamedThing neurofacioskeletal syndrome with or without renal agenesis tmpaxzxjjyw_mondo_relaxed.owl Neurodevelopmental Disorder With Corpus Callosum Agenesis, Craniofacial Dysmorphism, and Skeletal Anomalies, With or Without Renal Agenesis|NFSRA OMIM:619194 owl:Class MONDO:0010823 biolink:NamedThing rhizomelic chondrodysplasia punctata type 3 Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene. tmpaxzxjjyw_mondo_relaxed.owl alkyldihydroxyacetonephosphate synthase deficiency|RCDP3|AGPS deficiency|rhizomelic chondrodysplasia punctata type 3|alkylglycerone-phosphate synthase deficiency|AGPS rhizomelic chondrodysplasia punctata|rhizomelic chondrodysplasia punctata caused by mutation in AGPS|rhizomelic chondrodysplasia punctata, type 3 MESH:C537608|UMLS:C1838612|DOID:0110853|GARD:0009682|Orphanet:177|ICD10:Q77.3|Orphanet:309803|OMIM:600121 https://github.com/monarch-initiative/mondo/issues/2632|https://rarediseases.info.nih.gov/diseases/9682/rhizomelic-chondrodysplasia-punctata-type-3 owl:Class MONDO:0024333 biolink:NamedThing sciatica A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of sciatic neuropathy; radiculopathy (involving the spinal nerve roots; L4, L5, S1, or S2, often associated with intervertebral disk displacement); or lesions of the cauda equina. tmpaxzxjjyw_mondo_relaxed.owl sciatic neuralgia|neuralgia, sciatic|bilateral sciaticas|sciatica, bilateral|bilateral sciatica|neuralgias, sciatic|sciatic Neuralgias MESH:D012585|ICD9:724.3|SCTID:23056005 owl:Class MONDO:0010398 biolink:NamedThing syndromic X-linked intellectual disability 14 Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the UPF3B gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, syndromic type 14|intellectual disability, X-linked, syndromic 14|intellectual disability, X-linked, syndromic type 14|mental retardation, X-linked, syndromic 14|X-linked syndromic intellectual disability caused by mutation in UPF3B|UPF3B X-linked syndromic intellectual disability|syndromic X-linked intellectual disability 14|syndromic X-linked intellectual disability type 14|MRXS14 OMIM:300676|MESH:C567063|UMLS:C1970822|ICD10:Q87.8|DOID:0060821|Orphanet:776 owl:Class MONDO:0010012 biolink:NamedThing autoimmune polyendocrinopathy type 2 Autoimmune polyglandular syndrome of likely polygenic etiology characterized by the presence of primary adrenal insufficiency in association with autoimmune thyroiditis and/or type 1 diabetes mellitus; this condition is not associated with mucocutaneous candidiasis. tmpaxzxjjyw_mondo_relaxed.owl Schmidt's syndrome|polyglandular deficiency syndrome type 2|multiple endocrine deficiency syndrome, type 2|autoimmune polyglandular syndrome type 2|diabetes mellitus, Addison disease, myxedema|PGA 2|APS2|Schmidt syndrome|polyglandular autoimmune syndrome, type 2|autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome|APS 2|APS type 2|polyendocrine autoimmune syndrome, type 2|autoimmune polyendocrine syndrome, type II|diabetes mellitus, Addison's disease, myxedema|autoimmune polyendocrine syndrome type 2 ICD9:258.8|GARD:0007611|Orphanet:3143|ICD10:E31.0|NCIT:C129728|DOID:0050168|OMIM:269200|SCTID:83728000 owl:Class MONDO:0006690 biolink:NamedThing carotid artery thrombosis Blood clot formation in any part of the carotid arteries. This may produce carotid stenosis or occlusion of the vessel, leading to transient ischemic attack; cerebral infarction; or amaurosis fugax. tmpaxzxjjyw_mondo_relaxed.owl carotid artery thrombosis ICD9:433.10|UMLS:C0007274|MESH:D002341|EFO:1000853|MedDRA:10007688|DOID:3410|SCTID:86003009 owl:Class CL:0000623 biolink:NamedThing natural killer cell A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells. tmpaxzxjjyw_mondo_relaxed.owl null cell|NK cell|large granular lymphocyte BTO:0004716|FMA:63147|VHOG:0001697|BTO:0000914|CALOHA:TS-0664|FMA:83601 cell owl:Class MONDO:0020855 biolink:NamedThing spermatogenic failure 32 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 32|SPGF32 OMIM:618115 owl:Class UBERON:0010025 biolink:NamedThing dorsal part of pharyngeal pouch 3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051589 biolink:NamedThing negative regulation of neurotransmitter transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl down regulation of neurotransmitter transport|downregulation of neurotransmitter transport|inhibition of neurotransmitter transport|down-regulation of neurotransmitter transport owl:Class CHEBI:25046 biolink:NamedThing linear tetrapyrrole tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:2001544 biolink:NamedThing sublingual cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017407 biolink:NamedThing deficiency in anterior pituitary function - variable immunodeficiency syndrome tmpaxzxjjyw_mondo_relaxed.owl David syndrome Orphanet:293978|OMIM:615577 owl:Class CHEBI:35703 biolink:NamedThing xenobiotic A xenobiotic (Greek, xenos "foreign"; bios "life") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means. tmpaxzxjjyw_mondo_relaxed.owl xenobiotic|xenobiotics|xenobiotic compounds|Xenobiotic owl:Class MONDO:0014302 biolink:NamedThing hereditary spastic paraplegia 62 Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some. tmpaxzxjjyw_mondo_relaxed.owl SPG62|autosomal recessive spastic paraplegia type 62|spastic paraplegia 62, autosomal recessive|hereditary spastic paraplegia type 62|autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1|autosomal recessive spastic paraplegia 62|ERLIN1 autosomal recessive pure spastic paraplegia UMLS:C4284588|Orphanet:401785|OMIM:615681|SCTID:765045003|DOID:0110813|ICD10:G11.4 owl:Class MONDO:0030260 biolink:NamedThing pontocerebellar hypoplasia, type 1E tmpaxzxjjyw_mondo_relaxed.owl pontocerebellar hypoplasia, type 1E|PCH1E OMIM:619303 owl:Class MONDO:0013176 biolink:NamedThing Weill-Marchesani 4 syndrome, recessive tmpaxzxjjyw_mondo_relaxed.owl Weill-Marchesani syndrome 4|WMS4|15q26.3 microdeletion syndrome|ichthyosis-short stature-brachydactyly-microspherophakia syndrome|Weill-Marchesani-like syndrome UMLS:C2750787|ICD10:Q93.5|Orphanet:363992|OMIM:613195|MESH:C567710 owl:Class MONDO:0005512 biolink:NamedThing malignant peritoneal mesothelioma An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites. tmpaxzxjjyw_mondo_relaxed.owl peritoneum malignant mesothelioma (disease)|advanced peritoneal malignant mesothelioma|advanced malignant mesothelioma of peritoneum|peritoneal mesothelioma (disease), malignant|diffuse malignant peritoneal mesothelioma|peritoneal mesothelioma|malignant mesothelioma (disease) of peritoneum|advanced malignant peritoneal mesothelioma|primary malignant peritoneal mesothelioma|malignant peritoneal mesothelioma, advanced|malignant mesothelioma of peritoneum|advanced malignant mesothelioma of the peritoneum EFO:0005567|DOID:1788|MedDRA:10056558|Orphanet:168811|ICD10:C45.1|NCIT:C8704 owl:Class NCBITaxon:7496 biolink:NamedThing Pterygota tmpaxzxjjyw_mondo_relaxed.owl Pterygota|winged insects GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:85512 biolink:NamedThing Dicondylia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012551 biolink:NamedThing alopecia areata 2 tmpaxzxjjyw_mondo_relaxed.owl AA2|alopecia areata 2 Orphanet:701|MESH:C565186|OMIM:610753|Orphanet:700|UMLS:C1853104 owl:Class MONDO:0010288 biolink:NamedThing adrenomyodystrophy Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. tmpaxzxjjyw_mondo_relaxed.owl adrenomyodystrophy Orphanet:977|SCTID:763311001|OMIM:300270|UMLS:C1846044|GARD:0000562|MESH:C538051 owl:Class MONDO:0032660 biolink:NamedThing spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT|SMALED2B OMIM:618291|DOID:0070350 owl:Class MONDO:0018190 biolink:NamedThing autosomal dominant childhood-onset proximal spinal muscular atrophy tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy, lower extremity-predominant|SMALED|lower extremity-predominant autosomal dominant proximal spinal muscular atrophy Orphanet:363447|OMIMPS:158600|UMLS:CN227282|ICD10:G12.1|OMIM:615290|OMIM:158600|UMLS:C1834690 owl:Class GO:1903036 biolink:NamedThing positive regulation of response to wounding Any process that activates or increases the frequency, rate or extent of response to wounding. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of physiological response to wounding|upregulation of physiological response to wounding|upregulation of response to wounding|activation of response to wounding|up-regulation of physiological response to wounding|activation of physiological response to wounding|up regulation of physiological response to wounding|up-regulation of response to wounding|up regulation of response to wounding owl:Class MONDO:0004074 biolink:NamedThing ovarian mucinous cystadenofibroma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells in a fibrotic stroma. tmpaxzxjjyw_mondo_relaxed.owl ovarian mucinous cystadenofibroma DOID:7013|NCIT:C40041|UMLS:C1518725 owl:Class MONDO:0044328 biolink:NamedThing short-rib thoracic dysplasia 20 with polydactyly Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330). tmpaxzxjjyw_mondo_relaxed.owl short-rib thoracic dysplasia 20 with polydactyly|SRTD20 UMLS:CN902090|OMIM:617925 owl:Class GO:0001809 biolink:NamedThing positive regulation of type IV hypersensitivity Any process that activates or increases the frequency, rate or extent of type IV hypersensitivity, a type of inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of type IV hypersensitivity|up regulation of type IV hypersensitivity|stimulation of type IV hypersensitivity|activation of type IV hypersensitivity|upregulation of type IV hypersensitivity owl:Class MONDO:0029140 biolink:NamedThing glycosylphosphatidylinositol biosynthesis defect 18 tmpaxzxjjyw_mondo_relaxed.owl GPIBD18|glycosylphosphatidylinositol biosynthesis defect 18 OMIM:618143 owl:Class MONDO:0015203 biolink:NamedThing coronary artery congenital malformation tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q24.5|Orphanet:1081|MedDRA:10061060 owl:Class MONDO:0002763 biolink:NamedThing urethral verrucous carcinoma A verrucous carcinoma that involves the urethra. tmpaxzxjjyw_mondo_relaxed.owl urethra verrucous carcinoma|urethral verrucous carcinoma NCIT:C39874|DOID:3749|UMLS:C1519827 owl:Class CL:1000307 biolink:NamedThing fibroblast of dense regular elastic tissue A fibroblast that is part of the dense regular elastic tissue. tmpaxzxjjyw_mondo_relaxed.owl FMA:261287 cell owl:Class GO:1903295 biolink:NamedThing negative regulation of glutamate secretion, neurotransmission Any process that stops, prevents or reduces the frequency, rate or extent of glutamate secretion, neurotransmission. tmpaxzxjjyw_mondo_relaxed.owl downregulation of glutamate secretion, neurotransmission|inhibition of glutamate secretion, neurotransmission|down-regulation of glutamate secretion, neurotransmission|down regulation of glutamate secretion, neurotransmission owl:Class MONDO:0011236 biolink:NamedThing hyperinsulinism due to glucokinase deficiency Hyperinsulism due to glucokinase deficiency (HIGCK) is a form of diazoxide-sensitive diffuse hyperinsulinism, caused by a lowered threshold for insulin release, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. tmpaxzxjjyw_mondo_relaxed.owl HHF3|hyperinsulinemic hypoglycemia, familial, 3|hyperinsulinemic hypoglycemia familial 3|hyperinsulinemic hypoglycemia, familial, type 3|hyperinsulinemic hypoglycemia due to glucokinase deficiency GARD:0009930|OMIM:602485|MESH:C538374|GARD:0002818|SCTID:717182006|ICD10:E16.1|DOID:0070216|Orphanet:79299 https://rarediseases.info.nih.gov/diseases/9930/hyperinsulinemic-hypoglycemia-familial-3 owl:Class UBERON:0003252 biolink:NamedThing thoracic rib cage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000925 biolink:NamedThing hyperlucent lung A lung with reduced markings on its chest radiograph and increased areas of transradiancy (hyperlucency). A hyperlucent lung is usually associated with pulmonary emphysema or pneumothorax. tmpaxzxjjyw_mondo_relaxed.owl MESH:D019568|DOID:10032|UMLS:C0524799 owl:Class HP:0010732 biolink:NamedThing Nodular changes affecting the eyelids Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. tmpaxzxjjyw_mondo_relaxed.owl Eyelid nodules UMLS:C4023716 doelkens 2010-04-21T05:11:04Z human_phenotype owl:Class HP:0200036 biolink:NamedThing Skin nodule Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. tmpaxzxjjyw_mondo_relaxed.owl Growth of abnormal tissue on or under the skin SNOMEDCT_US:95319004|UMLS:C0037287 A nodule is a palpable, solid, round lesion in the deep skin or subcuteaneous tissues that is larger and deeper than a papule. Nodules are solid circumscribed masses. A common definition is that a skin nodule has a diameter of more than 5 mm in infants and more than 10 mm in older children. sebastiankohler 2010-06-18T01:48:50Z human_phenotype owl:Class MONDO:0009579 biolink:NamedThing Frank-Ter Haar syndrome Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay. tmpaxzxjjyw_mondo_relaxed.owl Melnick-Needles syndrome, autosomal recessive, formerly|Frank-Ter Haar syndrome|autosomal recessive Melnick-Needles syndrome (formerly)|FRANK-TER Haar syndrome|Ter Haar syndrome|Melnick-Needles syndrome, autosomal recessive|FTHS|Frank Ter Haar syndrome|Borrone Dermatocardioskeletal syndrome|megalocornea, multiple skeletal anomalies, and developmental delay OMIM:249420|SCTID:720958002|DOID:0111789|ICD10:Q87.8|UMLS:C1855305|MESH:C537274|Orphanet:137834|GARD:0005138 https://rarediseases.info.nih.gov/diseases/5138/frank-ter-haar-syndrome owl:Class MONDO:0010365 biolink:NamedThing myopathy, congenital, with fiber-type disproportion, X-linked tmpaxzxjjyw_mondo_relaxed.owl myopathy, congenital, with fiber-type disproportion, X-linked|CFTDX OMIM:300580|Orphanet:2020|DOID:0111226|UMLS:C2749128|MESH:C567594 owl:Class MONDO:0009711 biolink:NamedThing congenital fiber-type disproportion myopathy A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur. tmpaxzxjjyw_mondo_relaxed.owl congenital myopathy with fibre type disproportion|congenital fiber type disproportion|fiber-type disproportion myopathy, congenital|congenital fiber-type disproportion|myopathy, congenital with fiber-type disproportion|CFTDM|congenital myopathy with fiber type disproportion|myopathy, congenital, with fiber-type disproportion|CFTD GARD:0006161|OMIM:255310|DOID:0080102|NCIT:C120046|UMLS:C0546264|OMIM:300580|ICD10:G71.2|Orphanet:2020 owl:Class UBERON:0002528 biolink:NamedThing sacral lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008861 biolink:NamedThing pyloric gastric gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016469 biolink:NamedThing Ehlers-Danlos syndrome, vascular-like type Ehlers-Danlos, vascular-like type is an adult-onset form of Ehlers-Danlos syndrome characterized by spontaneous dissection of medium-sized arteries during young adulthood, including mainly the iliac, femoral, and renal arteries. tmpaxzxjjyw_mondo_relaxed.owl EDS, vascular-like type UMLS:CN201458|SCTID:720862007|ICD10:Q79.6|Orphanet:230845 owl:Class MONDO:0010612 biolink:NamedThing hydrocephaly-cerebellar agenesis syndrome This syndrome is characterised by infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy was also reported. tmpaxzxjjyw_mondo_relaxed.owl X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome|cerebellum agenesis hydrocephaly|hydrocephalus with cerebellar agenesis Orphanet:1397|ICD10:Q04.3|UMLS:C1844005|OMIM:307010|MESH:C564407|GARD:0001200 https://rarediseases.info.nih.gov/diseases/1200/cerebellum-agenesis-hydrocephaly owl:Class MONDO:0003154 biolink:NamedThing hemangioma of peripheral nerve A hemangioma arising from the peripheral nerves. tmpaxzxjjyw_mondo_relaxed.owl hemangioma of nerve|hemangioma of peripheral nerve|nerve hemangioma UMLS:C1333956|NCIT:C27507|DOID:482 owl:Class CHEBI:25944 biolink:NamedThing pesticide Strictly, a substance intended to kill pests. In common usage, any substance used for controlling, preventing, or destroying animal, microbiological or plant pests. tmpaxzxjjyw_mondo_relaxed.owl Pestizide|pesticide|Pestizid|pesticides owl:Class GO:1903827 biolink:NamedThing regulation of cellular protein localization Any process that modulates the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular protein localisation|regulation of channel localizer activity owl:Class MONDO:0014206 biolink:NamedThing severe early-onset pulmonary alveolar proteinosis due to MARS deficiency tmpaxzxjjyw_mondo_relaxed.owl infantile liver failure syndrome 2, formerly|interstitial lung and liver disease|pulmonary alveolar proteinosis, Reunion Island|hereditary pulmonary alveolar proteinosis with hepatic involvement|ILLD|pulmonary alveolar proteinosis, Reunion island type|PAP, Reunion island type|infantile liver failure syndrome 2 OMIM:615486|Orphanet:440427|ICD10:J84.0|UMLS:C4225400|Orphanet:370088 https://github.com/monarch-initiative/mondo/issues/2420 owl:Class UBERON:0035650 biolink:NamedThing nerve of clitoris tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017507 biolink:NamedThing congenital absence/hypoplasia of thumb, bilateral Congenital absence/hypoplasia of thumb, bilateral is a rare developmental defect during embryogenesis characterized by bilateral underdevelopment of the thumbs, ranging from a slight decrease in thumb size to complete absence of the thumbs. This anomaly counts for 20-60% of thumb hypoplasias. tmpaxzxjjyw_mondo_relaxed.owl thumb oligodactyly, bilateral|thumb hypodactyly, bilateral ICD10:Q71.3|Orphanet:295112 owl:Class MONDO:0017447 biolink:NamedThing congenital absence/hypoplasia of thumb Congenital absence/hypoplasia of thumb is a rare developmental defect during embryogenesis characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome. tmpaxzxjjyw_mondo_relaxed.owl thumb oligodactyly|thumb hypodactyly ICD10:Q71.3|Orphanet:294988 owl:Class HGNC:26219 biolink:NamedThing FUZ tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006283 biolink:NamedThing future cardiac ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022612 biolink:NamedThing Brunsting-Perry syndrome tmpaxzxjjyw_mondo_relaxed.owl Brunsting Perry syndrome|cicatricial pemphigoid of the Brunsting-Perry type|localized cicatricial pemphigoid EFO:0008611|GARD:0010454|UMLS:C1304226 https://rarediseases.info.nih.gov/diseases/10454/brunsting-perry-syndrome owl:Class MONDO:0007161 biolink:NamedThing spermatogenic failure 2 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 2|SPGF2|Aspermiogenesis Factor DOID:0070164|OMIM:108420 owl:Class HP:0012647 biolink:NamedThing Abnormal inflammatory response Any anomaly of the inflammatory response, a response to injury or infection characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. tmpaxzxjjyw_mondo_relaxed.owl Abnormal inflammatory response UMLS:C4022805 peter 2014-02-01T01:25:42Z human_phenotype owl:Class GO:0030186 biolink:NamedThing melatonin metabolic process The chemical reactions and pathways involving melatonin (N-acetyl-5-methoxytryptamine). tmpaxzxjjyw_mondo_relaxed.owl melatonin metabolism owl:Class MONDO:0006848 biolink:NamedThing marasmus The lack of sufficient energy or protein to meet the body's metabolic demands, as a result of either an inadequate dietary intake of protein, intake of poor quality dietary protein, increased demands due to disease, or increased nutrient losses. tmpaxzxjjyw_mondo_relaxed.owl nutritional atrophy|nutritional marasmus SCTID:29740003|MESH:D011502|ICD9:261|MedDRA:10026820|ICD10:E41|EFO:1001033|DOID:12328|UMLS:C0086588 owl:Class MONDO:0009457 biolink:NamedThing immunoglobulin d level in plasma, low tmpaxzxjjyw_mondo_relaxed.owl IMMUNOGLOBULIN D level in plasma, LOW OMIM:242890 owl:Class MONDO:0017100 biolink:NamedThing neutropenia-monocytopenia-deafness syndrome Neutropenia-monocytopenia-deafness syndrome is characterised by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:2690|ICD10:D82.8|UMLS:CN202458 owl:Class UBERON:3000982 biolink:NamedThing tail external integument structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002590 biolink:NamedThing combined thymoma tmpaxzxjjyw_mondo_relaxed.owl DOID:3281 owl:Class HGNC:6840 biolink:NamedThing MAP2K1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18243 biolink:NamedThing RCBTB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:09000005 biolink:NamedThing amount of carbon atom in soil The amount of a carbon atom when measured in soil. tmpaxzxjjyw_mondo_relaxed.owl soil carbon atom amount owl:Class MONDO:0007790 biolink:NamedThing Charcot-Marie-Tooth disease type 3 tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, type 3|hypertrophic neuropathy of infancy|Dejerine-Sottas syndrome|hereditary motor and sensory neuropathy type III|hereditary motor and sensory neuropathy type 3|Dejerine-Sottas neuropathy|DSN|CMT3|HMSN3|HMSN III|hereditary motor and sensory neuropathy 3|HMSN 3|Charcot-Marie-Tooth disease type 3|hypertrophic neuropathy of Dejerine-Sottas SCTID:111499002|ICD10:G60.0|Orphanet:64748|DOID:0050540|NCIT:C133087|GARD:0009204|OMIM:145900|UMLS:C0011195 Editor note: merged Dejerine-Sottas Neuropathy on basis of Ordo and ncit owl:Class MONDO:0001678 biolink:NamedThing intestinal tuberculosis A tuberculosis that involves the intestine. tmpaxzxjjyw_mondo_relaxed.owl tuberculosis of intestine|intestine tuberculosis ICD9:014.8|ICD9:014.80|SCTID:60136008|DOID:13282|UMLS:C0275911 owl:Class UBERON:0004214 biolink:NamedThing upper leg nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051235 biolink:NamedThing maintenance of location Any process in which a cell, substance or cellular entity, such as a protein complex or organelle, is maintained in a location and prevented from moving elsewhere. tmpaxzxjjyw_mondo_relaxed.owl sequestering|retention|maintenance of localization|storage owl:Class HGNC:8607 biolink:NamedThing PRKN tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035884 biolink:NamedThing maxillary-premaxillary suture tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3013 biolink:NamedThing DPYS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007985 biolink:NamedThing metatarsus varus, type 1 tmpaxzxjjyw_mondo_relaxed.owl metatarsus varus, type I OMIM:156520|MESH:C563585|UMLS:C1834968 owl:Class MONDO:0018039 biolink:NamedThing selective IgM deficiency Selective IgM deficiency (SIgMD) is a rare immune disorder that has been reported in association with serious infections, such as bacteria in the blood (bacteremia, also known as septicemia). Although SIgMD was first described in two children, the disorder can occur in babies, children, and adults. It is characterized by isolated absence or deficiency of immunoglobulin M (IgM), normal levels of other immunoglobulins, and recurrent infections (especially by Staphylococcus aureus, Streptococcus pneumoniae, Hemophilus influenza). The cause is still unclear. The diagnosis includes isolated deficiency ofIgM in the blood and no other immunodeficiency or secondary cause of low IgM. Patients with SIgMD and recurrent infections are managed like other antibody defects and deficiencies. It is suggested that people with SIgMD have pneumococcal and meningococcal vaccines, people with SIgMD who have recurrent infections should have prophylactic antibiotics and immune globulin replacement. tmpaxzxjjyw_mondo_relaxed.owl SIgMD|selective IgM deficiency disease|selective immunoglobulin M deficiency ICD10:D80.4|Orphanet:331235|ICD9:279.02|GARD:0012547|DOID:0050222|SCTID:190980000 https://rarediseases.info.nih.gov/diseases/12547/selective-igm-deficiency owl:Class MONDO:0001342 biolink:NamedThing dysgammaglobulinemia An immunologic deficiency state characterized by selective deficiencies of one or more, but not all, classes of immunoglobulins. tmpaxzxjjyw_mondo_relaxed.owl dysgammaglobulinemia|dysgammaglobulinemia (disease)|dysgammaglobulinemia (finding) dysgammaglobulinemia (disease) SCTID:123782009|MESH:D004406|DOID:11702|UMLS:C0013374|HP:0002961 owl:Class MONDO:0013303 biolink:NamedThing autoimmune disease, susceptibility to, 6 Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene. tmpaxzxjjyw_mondo_relaxed.owl susceptibility to autoimmune disease 6|autoimmune disease caused by mutation in SIAE|SIAE autoimmune disease|autoimmune disease, susceptibility to, type 6|autoimmune disease, susceptibility to, 6|AIS6 OMIM:613551 owl:Class MONDO:0013517 biolink:NamedThing beta-thalassemia HBB/LCRB Abnormal clinical manifestations of beta thalassemia that are as a result of the underlying genotype. tmpaxzxjjyw_mondo_relaxed.owl beta-thalassemia Orphanet:848|SCDO:0000251|OMIM:613985|Orphanet:231222|Orphanet:231214 OMIM has the gene LCRB implicated in this disease but this gene does not exist in HGNC. It does exist in NCBI gene (HBB-LCR NCBIgene:109580095). owl:Class MONDO:0100456 biolink:NamedThing neonatal encephalopathy with non-epileptic myoclonus A disorder characterized onset at birth of profound encephalopathy with hypotonia, Respiratory insufficiency central hypoventilation, a persistent suppression burst pattern of EEG background, and recurrent bouts of myoclonus that are not accompanied by epileptic discharges on electroencephalography. Evolution to pharmacoresistant seizures is common and continued profound global developmental delay. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4059 owl:Class MONDO:0010473 biolink:NamedThing X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked, syndromic 32|intellectual disability, X-linked, syndromic type 32|MRXS32|mental retardation, X-linked, syndromic type 32|mental retardation, X-linked, syndromic 32 UMLS:C3550913|Orphanet:324410|OMIM:300886|DOID:0060828 owl:Class NCBITaxon:6934 biolink:NamedThing Parasitiformes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009153 biolink:NamedThing ectopia lentis et pupillae tmpaxzxjjyw_mondo_relaxed.owl ectopia lentis with ectopia of pupil|ectopia lentis et pupillae OMIM:225200|UMLS:C1644196|MESH:C563268|DOID:0111648|Orphanet:1885|SCTID:419237004 owl:Class CHEBI:39447 biolink:NamedThing pyrimidines Any compound having a pyrimidine as part of its structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012139 biolink:NamedThing macular dystrophy, retinal, 3 tmpaxzxjjyw_mondo_relaxed.owl macular dystrophy, retinal, type 3|macular dystrophy, retinal, 3|Mcdr3|MCDR3 UMLS:C3888009|OMIM:608850 owl:Class MONDO:0100002 biolink:NamedThing food protein-induced allergic proctocolitis A benign inflammatory colitis caused by a non-IgE-mediated immune reaction to ingested food proteins. tmpaxzxjjyw_mondo_relaxed.owl FPIPC|milk protein proctocololitis|allergic proctocolitis 2018-03-14 03:32:19+00:00 owl:Class MONDO:0008373 biolink:NamedThing retinal arterial tortuosity tmpaxzxjjyw_mondo_relaxed.owl tortuosity of retinal arteries|retinal arteries, tortuosity OF|retinal arteriolar tortuosity|retinal arterial tortuosity (disease)|retinal arterial tortuosity|retinal hemorrhage with vascular tortuosity|RATOR retinal arterial tortuosity (disease) OMIM:180000|ICD10:Q14.1|HP:0001136|DOID:0111547|Orphanet:75326 owl:Class UBERON:0012180 biolink:NamedThing head or neck skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0030014 biolink:NamedThing Female sexual dysfunction A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1112442 human_phenotype owl:Class MONDO:0044311 biolink:NamedThing brachycephaly, trichomegaly, and developmental delay BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by {2:Paolini et al., 2017}). tmpaxzxjjyw_mondo_relaxed.owl Macinnes syndrome|BTDD|brachycephaly, trichomegaly, and developmental delay UMLS:C4479431|OMIM:617412 owl:Class MONDO:0018759 biolink:NamedThing childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776870|Orphanet:466921 owl:Class MONDO:0005657 biolink:NamedThing aspergillosis Aspergillosis is an infection, growth, or allergic response caused by the Aspergillus fungus. There are several different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA), a condition where the fungus causes allergic respiratory symptoms similar to asthma, such as wheezing and coughing, but does not actually invade and destroy tissue. Another kind of aspergillosis is invasive aspergillosis. This infection usually affects people with weakened immune systems due to cancer, AIDS, leukemia, organ transplantation, chemotherapy, or other conditions or events that reduce the number of normal white blood cells. In this condition, the fungus invades and damages tissues in the body. Invasive aspergillosis most commonly affects the lungs, but can also cause infection in many other organs and can spread throughout the body (commonly affecting the kidneys and brain). Aspergilloma, a growth (fungus ball) that develops in an area of previous lung disease such as tuberculosis or lung abscess, is a third kind of aspergillosis. This type of aspergillosis is composed of a tangled mass of fungus fibers, blood clots, and white blood cells. The fungus ball gradually enlarges, destroying lung tissue in the process, but usually does not spread to other areas. tmpaxzxjjyw_mondo_relaxed.owl infection due to Aspergillus ICD10:B44.1|GARD:0005856|ICD10:B44.2|ICD10:B44.0|CSP:1988-4002|ICD10:B44|Orphanet:1163|EFO:0007157|OMIM:614079|ICD9:117.3|DOID:13564|MedDRA:10003488|UMLS:C0004030|ICD10:B44.8|ICD10:B44.9|ICD10:B44.7|SCTID:65553006|MESH:D001228|NCIT:C2886 https://rarediseases.info.nih.gov/diseases/5856/aspergillosis owl:Class MONDO:0032837 biolink:NamedThing abdominal obesity-metabolic syndrome 4 tmpaxzxjjyw_mondo_relaxed.owl ABDOMINAL OBESITY-METABOLIC SYNDROME 4|AOMS4 OMIM:618620 owl:Class MONDO:0033564 biolink:NamedThing oocyte maturation defect 8 tmpaxzxjjyw_mondo_relaxed.owl OOCYTE MATURATION DEFECT 8|OOMD8 OMIM:619009 owl:Class MONDO:0004009 biolink:NamedThing kidney pelvis sarcomatoid transitional cell carcinoma An infiltrating transitional cell carcinoma that arises from the renal pelvis and exhibits sarcomatoid features. tmpaxzxjjyw_mondo_relaxed.owl kidney pelvis sarcomatoid transitional cell carcinoma|sarcomatoid transitional cell carcinoma of the kidney pelvis|infiltrating renal pelvis urothelial carcinoma, sarcomatoid variant|renal pelvis sarcomatoid transitional cell carcinoma|sarcomatoid transitional cell carcinoma of renal pelvis|sarcomatoid transitional cell carcinoma of kidney pelvis|sarcomatoid transitional cell carcinoma of the renal pelvis UMLS:C1335752|NCIT:C6186|DOID:6844 owl:Class MONDO:0014541 biolink:NamedThing motor developmental delay due to 14q32.2 paternally expressed gene defect A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father. tmpaxzxjjyw_mondo_relaxed.owl TEMPLE syndrome|uniparental disomy, maternal, chromosome 14|mUPD14 syndrome|maternal uniparental disomy chromosome 14 syndrome OMIM:616222|NCIT:C120409|DOID:0111713|UMLS:C4015558|Orphanet:254516 owl:Class UBERON:0004426 biolink:NamedThing proximal epiphysis of fifth metacarpal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001145 biolink:NamedThing total third-nerve palsy tmpaxzxjjyw_mondo_relaxed.owl third or oculomotor nerve palsy, total|third nerve palsy with pupil involved|total third nerve palsy UMLS:C0271371|SCTID:194119004|DOID:10866|MESH:D015840|ICD9:378.52 owl:Class MONDO:0001309 biolink:NamedThing oculomotor nerve paralysis Paralysis of the oculomotor nerve. tmpaxzxjjyw_mondo_relaxed.owl oculomotor nerve paralysis|third cranial nerve paralysis|cranial nerve palsy of oculomotor nerve|oculomotor palsy|III nerve palsy|oculomotor nerve cranial nerve palsy|IIIrd nerve paralysis DOID:11550|ICD10:H49.0|UMLS:C0028866|NCIT:C27597|MESH:D015840|Orphanet:98685|SCTID:388980004 owl:Class MONDO:0017536 biolink:NamedThing central polydactyly of fingers, bilateral tmpaxzxjjyw_mondo_relaxed.owl mirror hand, bilateral|mesoaxial polydactyly of fingers, bilateral Orphanet:295173|ICD10:Q69.0 owl:Class MONDO:0017456 biolink:NamedThing central polydactyly of fingers tmpaxzxjjyw_mondo_relaxed.owl central polydactyly|central polydactyly of hand|mirror hand|mesoaxial polydactyly of fingers|mesoaxial polydactyly GARD:0012769|SCTID:205130008|Orphanet:295004|ICD10:Q69.0 owl:Class GO:0031670 biolink:NamedThing cellular response to nutrient Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010652 biolink:NamedThing X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-seizures-psoriasis syndrome has been described in four male cousins. The mode of inheritance is thought to be X-linked recessive. tmpaxzxjjyw_mondo_relaxed.owl mental retardation X-linked, Tranebjaerg type seizures and psoriasis|Tranebjaerg-Svejgaard syndrome|intellectual disability X-linked, Tranebjaerg type seizures and psoriasis|X-linked intellectual disability associated with psoriasis|intellectual disability and psoriasis|X-linked intellectual disability - seizures - psoriasis|X-linked mental retardation associated with psoriasis|mental retardation and psoriasis|Tranebjaerg Svejgaard syndrome MESH:C536978|SCTID:719810000|Orphanet:3052|OMIM:309480|ICD10:Q87.8|GARD:0005238 owl:Class MONDO:0019466 biolink:NamedThing lymphomatoid granulomatosis Lymphomatoid granulomatosis (LYG) is a very rare Epstein-Barr virus (EBV)-driven lymphoproliferative disease most commonly occurring in adults (in the fourth to sixth decade of life) and commonly affecting the lungs (with presentations varying from small bilateral pulmonary nodules to large necrotic and sometimes cavitating lesions), skin, central nervous system, and kidneys, but only very rarely affecting the lymph nodes and spleen. The symptoms associated with LYG depend on the site of disease involvement but mainly include cough, dyspnea or chest pain (in those with pulmonary involvement) and constitutional symptoms such as weight loss and fever. tmpaxzxjjyw_mondo_relaxed.owl LYG ONCOTREE:LYG|ICDO:9766/1|UMLS:C0024307|MESH:D008230|ICD10:C83.8|MedDRA:10025325|NCIT:C7930|Orphanet:86869|GARD:0006943|SCTID:239940004 https://rarediseases.info.nih.gov/diseases/6943/lymphomatoid-granulomatosis owl:Class GO:0006099 biolink:NamedThing tricarboxylic acid cycle A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle. tmpaxzxjjyw_mondo_relaxed.owl citric acid cycle|Krebs cycle|TCA cycle owl:Class MONDO:0013688 biolink:NamedThing linear and whorled nevoid hypermelanosis Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism. tmpaxzxjjyw_mondo_relaxed.owl Becker's Nevus|melanosis Neviformis|pigmented hairy Epidermal Nevus|linear papular ectodermal-mesodermal hamartoma|zosteriform lentiginous nevus|reticulate hyperpigmentation of Iijima|linear and whorled hypermelanosis|progressive cribriform and zosteriform hyperpigmentation|Becker Nevus|pigmented hairy Nevus of Becker|zosteriform hyperpigmentation|zebra-like hyperpigmentation|nevoid hypermelanosis, linear and whorled|LWNH|hyperpigmentation, progressive cribriform and zosteriform OMIM:614323|ICD10:L81.4|Orphanet:79150|UMLS:C0263579|UMLS:C1304501|SCTID:403803002|NCIT:C3924|GARD:0011004 https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis owl:Class MONDO:0019241 biolink:NamedThing inborn disorder of the gamma-glutamyl cycle tmpaxzxjjyw_mondo_relaxed.owl disorder of the gamma-glutamyl cycle|disorder of gamma-glutamyl cycle SCTID:9128006|ICD10:E72.8|UMLS:C0268517|Orphanet:79196 Editor note: request from GO owl:Class MONDO:0007350 biolink:NamedThing coloboma, ocular, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl coloboma of iris, choroid, and retina|coloboma, Uveoretinal|coloboma, ocular, autosomal dominant OMIM:120200|Orphanet:98944|Orphanet:194|Orphanet:98942 owl:Class MONDO:0044306 biolink:NamedThing neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by {1:Schoch et al., 2017}). tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination|severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract|NECFM OMIM:617393|UMLS:C4479333|Orphanet:500545 owl:Class GO:0033085 biolink:NamedThing negative regulation of T cell differentiation in thymus Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation in the thymus. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of thymic T cell differentiation|negative regulation of thymocyte differentiation|negative regulation of T cell development in thymus|negative regulation of thymocyte cell differentiation owl:Class UBERON:0001995 biolink:NamedThing fibrocartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021463 biolink:NamedThing benign neoplasm of parathyroid gland A benign neoplasm that involves the parathyroid gland. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of the parathyroid|benign parathyroid tumor|benign tumor of parathyroid|parathyroid gland benign neoplasm|benign parathyroid gland tumor|parathyroid tumor benign|benign parathyroid gland neoplasm|benign neoplasm of the parathyroid gland|benign neoplasm of parathyroid|benign tumor of the parathyroid|benign tumor of parathyroid gland|benign parathyroid neoplasm|benign tumor of the parathyroid gland DOID:60008|NCIT:C3630|SCTID:92272009|ICD9:227.1|ICD10:D35.1|UMLS:C0154041 owl:Class MONDO:0011209 biolink:NamedThing progeroid facial appearance with hand anomalies tmpaxzxjjyw_mondo_relaxed.owl progeroid facial appearance with hand anomalies OMIM:602249|UMLS:C1865699|MESH:C566563 owl:Class UBERON:0005108 biolink:NamedThing metanephric epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011635 biolink:NamedThing goiter, multinodular 3 tmpaxzxjjyw_mondo_relaxed.owl MNG3|goiter, multinodular 3 OMIM:606082|UMLS:C1853686|MESH:C565260 owl:Class MONDO:0000334 biolink:NamedThing multinodular goiter Nodular goiter characterized by more than one discrete tissue mass. tmpaxzxjjyw_mondo_relaxed.owl goiter, multinodular UMLS:C0342208|SCTID:237570007|NCIT:C131438|OMIM:606082|OMIM:138800|DOID:0050489|OMIM:300273|Orphanet:276399|OMIMPS:138800 owl:Class MONDO:0012653 biolink:NamedThing persistent hyperplastic primary vitreous, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl PHPVAD|persistent hyperplastic primary vitreous, autosomal dominant UMLS:C1969784|Orphanet:91495|OMIM:611308 owl:Class CL:0002116 biolink:NamedThing B220-low CD38-positive unswitched memory B cell A B220-low CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-low, CD38-positive, IgD-positive, CD138-negative, and IgG-negative. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0002115 biolink:NamedThing B220-positive CD38-positive unswitched memory B cell A B220-positive CD38-positive unswitched memory B cell is a CD38-positive unswitched memory B cell that has the phenotype B220-positive, CD38-positive, IgD-positive, CD138-negative, and IgG-negative. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0013928 biolink:NamedThing dystonia 23 Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene. tmpaxzxjjyw_mondo_relaxed.owl adult-onset cervical dystonia, DYT23 type|CACNA1B dystonic disorder|dystonic disorder caused by mutation in CACNA1B|dystonia type 23|DYT23|dystonia 23 OMIM:614860|ICD10:G24.8|DOID:0090051|Orphanet:420492|UMLS:C3538999 owl:Class NCBITaxon:815 biolink:NamedThing Bacteroidaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:8300528 ncbi_taxonomy owl:Class MONDO:0030933 biolink:NamedThing Joubert syndrome 37 tmpaxzxjjyw_mondo_relaxed.owl JBTS37|Joubert syndrome 37 OMIM:619185 owl:Class MONDO:0012298 biolink:NamedThing omphalocele, diaphragmatic hernia, and radial ray defects tmpaxzxjjyw_mondo_relaxed.owl omphalocele, diaphragmatic hernia, and radial ray defects|Gershoni-Baruch syndrome UMLS:C1836007|GARD:0010354|MESH:C563701|OMIM:609545 owl:Class MONDO:0011494 biolink:NamedThing hyaluronan metabolism, defect 1N tmpaxzxjjyw_mondo_relaxed.owl hyaluronan metabolism, defect IN|hyaluronan metabolism, defect type 1N UMLS:C1858083|MESH:C565742|OMIM:604855 owl:Class HP:0003826 biolink:NamedThing Stillbirth Death of the fetus in utero after at least 20 weeks of gestation. tmpaxzxjjyw_mondo_relaxed.owl Fetal death|Stillbirth|Foetal death|Stillborn SNOMEDCT_US:237364002|UMLS:C0595939|MSH:D050497|SNOMEDCT_US:276507005|MSH:D005313|UMLS:C0015927 HP:0001625|HP:0001624 human_phenotype owl:Class HP:0011420 biolink:NamedThing Age of death The age group when the cessation of life happens. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1546180 human_phenotype owl:Class MONDO:0001551 biolink:NamedThing ulceration of vulva tmpaxzxjjyw_mondo_relaxed.owl vulvar ulceration|ulceration of vulva ICD9:616.51|SCTID:68640004|UMLS:C0156339|ICD9:616.50|ICD10:N77.0|DOID:12566|ICD10:N76.6 owl:Class MONDO:0024354 biolink:NamedThing cytomegalovirus pneumonia Pneumonia caused by cytomegalovirus. Most humans are exposed to cytomegalovirus. Healthy individuals do not develop signs and symptoms of infection. Patients with weakened immune system (e.g., AIDS patients, cancer patients who are being treated with chemotherapy, and patients who have received bone marrow or solid organ transplants) develop signs and symptoms of infection. They include cough, shortness of breath, fatigue, malaise, fever, muscle and joint pain, and excessive sweating. tmpaxzxjjyw_mondo_relaxed.owl cytomegalovirus pneumonia|Cytomegaloviral pneumonia|Cytomegalovirus caused pneumonia|Cytomegalovirus pneumonia|CMV pneumonia NCIT:C35360|SCTID:7678002|UMLS:C0276253 owl:Class MONDO:0001521 biolink:NamedThing intermittent explosive disorder A disorder characterized by recurrent episodes of serious assaultive acts or destruction of property due to a failure to resist aggressive impulses; the degree of aggression during these episodes is grossly out of proportion to any psychosocial provocation. The aggressive episodes are not etiologically linked to another mental disorder, a general medical condition, or substance use. tmpaxzxjjyw_mondo_relaxed.owl explosive personality disorder NCIT:C94332|ICD9:312.34|SCTID:231527003|DOID:12401|ICD10:F63.81|ICD9:301.3|ICD10:F60.3 owl:Class MONDO:0033260 biolink:NamedThing hearing loss, autosomal dominant 73 tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 73|deafness, autosomal dominant 73|DFNA73 UMLS:CN461628|DOID:0080269|OMIM:617663 owl:Class MONDO:0000591 biolink:NamedThing intrinsic cardiomyopathy A cardiomyopathy that is due to abnormalities in heart muscle cells. tmpaxzxjjyw_mondo_relaxed.owl intrinsic cardiomyopathy|primary cardiomyopathy DOID:0060036 owl:Class MONDO:0015025 biolink:NamedThing developmental and epileptic encephalopathy, 51 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene. tmpaxzxjjyw_mondo_relaxed.owl EIEE51|epileptic encephalopathy, early infantile, type 51|DEE51|early infantile epileptic encephalopathy caused by mutation in MDH2|MDH2 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 51; EIEE51|epileptic encephalopathy, early infantile, 51 UMLS:C4479208|OMIM:617339|DOID:0080433|UMLS:CN240510 owl:Class MONDO:0019456 biolink:NamedThing acute myeloid leukemia with multilineage dysplasia An acute myeloid leukemia arising de novo and not as a result of treatment. It is characterized by the presence of myelodysplastic features in at least 50% of the cells of at least two hematopoietic cell lines. Patients often present with severe cytopenia. tmpaxzxjjyw_mondo_relaxed.owl acute myeloid leukaemia with myelodysplasia-related features|AML with multilineage dysplasia|De novo acute myeloid leukemia with multilineage dysplasia|AML with myelodysplasia-related features GARD:0012761|NCIT:C9289|UMLS:C1292773|SCTID:445448008|Orphanet:86845|OMIM:601626|ICD10:C92.8|ICDO:9895/3 owl:Class MONDO:0001345 biolink:NamedThing antidepressant type abuse A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. tmpaxzxjjyw_mondo_relaxed.owl ICD9:305.8|DOID:11718 owl:Class GO:1900120 biolink:NamedThing regulation of receptor binding Any process that modulates the frequency, rate or extent of a protein or other molecule binding to a receptor. tmpaxzxjjyw_mondo_relaxed.owl regulation of receptor ligand owl:Class MONDO:0002962 biolink:NamedThing epidermolytic acanthoma A benign epithelial verrucous lesion of the skin. Morphologically, it is characterized by the presence of epidermolytic hyperkeratosis and papillomatosis. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27516|UMLS:C1333414|DOID:4323 owl:Class MONDO:0002093 biolink:NamedThing acanthoma A benign skin neoplasm composed of epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl acanthoma (disease)|acanthoma acanthoma (disease) MESH:D049309|NCIT:C7419|GARD:0008604|HP:0025432|UMLS:C0846967|DOID:174 owl:Class MONDO:0012383 biolink:NamedThing primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21. tmpaxzxjjyw_mondo_relaxed.owl mini-chromosome maintenance 4|IMD54|NKGCD|natural Killer cell deficiency, familial isolated|natural KILLER cell and glucocorticoid deficiency with DNA repair defect|immunodeficiency 54|primary immunodeficiency due to MCM4 deficiency MESH:C566492|Orphanet:75391|SCTID:724275005|UMLS:C1864947|NCIT:C123729|OMIM:609981|ICD10:D84.8 owl:Class MONDO:0005682 biolink:NamedThing bronchopneumonia Acute inflammation of the walls of the terminal bronchioles that spreads into the peribronchial alveoli and alveolar ducts. It results in the creation of foci of consolidation, which are surrounded by normal parenchyma. It affects one or more lobes, and is frequently bilateral and basal. It is usually caused by bacteria (e.g., Staphylococcus, Streptococcus, Haemophilus influenzae). Signs and symptoms include fever, cough with production of brown-red sputum, dyspnea, and chest pain. tmpaxzxjjyw_mondo_relaxed.owl chest infection - bronchopneumonia|lobular pneumonia|chest infection - unspecified bronchopneumonia|bronchial pneumonia MESH:D001996|SCTID:396285007|EFO:0007184|DOID:12375|UMLS:C0006285|ICD9:485|ICD10:J18.0|NCIT:C26710 owl:Class HGNC:4832 biolink:NamedThing HBG2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002504 biolink:NamedThing enteric smooth muscle cell A smooth muscle cell of the intestine. tmpaxzxjjyw_mondo_relaxed.owl intestinal smooth muscle cell tmeehan 2011-01-17T03:39:38Z cell owl:Class MONDO:0001886 biolink:NamedThing midline cystocele tmpaxzxjjyw_mondo_relaxed.owl DOID:14131|ICD10:N81.11|UMLS:C1456248|ICD9:618.01|SCTID:423633003 owl:Class HGNC:7323 biolink:NamedThing SEPTIN9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0046930 biolink:NamedThing pore complex A protein complex providing a discrete opening in a membrane that allows the passage of gases and/or liquids. tmpaxzxjjyw_mondo_relaxed.owl pore|pore-forming toxin activity|channel-forming toxin activity owl:Class MONDO:0007387 biolink:NamedThing Cornelia de Lange syndrome 1 Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene. tmpaxzxjjyw_mondo_relaxed.owl De Lange syndrome|CDLS1|Cornelia de Lange syndrome 1|NIPBL Cornelia de Lange syndrome|Brachmann-De Lange syndrome|Cdl|Cornelia de Lange syndrome caused by mutation in NIPBL|Cornelia DE Lange syndrome 1|Cornelia De Lange syndrome type 1|typus Degenerativus Amstelodamensis UMLS:CN029798|UMLS:C0270972|OMIM:122470|ICD9:759.89|DOID:0080505|Orphanet:199|SCTID:40354009 owl:Class GO:0080135 biolink:NamedThing regulation of cellular response to stress Any process that modulates the frequency, rate or extent of a cellular response to stress. Cellular response to stress is a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017237 biolink:NamedThing hereditary sensorimotor neuropathy with hyperelastic skin tmpaxzxjjyw_mondo_relaxed.owl OMIM:608895|Orphanet:280598|GARD:0011010|UMLS:CN202738|ICD10:G60.0 https://rarediseases.info.nih.gov/diseases/11010/hereditary-sensorimotor-neuropathy-with-hyperelastic-skin owl:Class MONDO:0005625 biolink:NamedThing cerebral malaria A sequestration of Plasmodium falciparum in the brain, which can cause coma and/or seizures. tmpaxzxjjyw_mondo_relaxed.owl malarial encephalitis Wikipedia:Malaria|DOID:14069|SCTID:53622003|NCIT:C128373|UMLS:C0024534|MESH:D016779|ICD9:084.9|EFO:0006857|ICD10:B50.0 owl:Class MONDO:0001498 biolink:NamedThing varicocele A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume. tmpaxzxjjyw_mondo_relaxed.owl varicose disease of scrotum|scrotum varicose disease|scrotal varices ICD10:I86.1|UMLS:C0042341|DOID:12337|ICD9:456.4|SCTID:46871008|MESH:D014646 owl:Class MONDO:0001767 biolink:NamedThing stenosis of lacrimal punctum tmpaxzxjjyw_mondo_relaxed.owl SCTID:74783009|DOID:13653|UMLS:C0155244|ICD10:H04.56|ICD9:375.52 owl:Class GO:0098660 biolink:NamedThing inorganic ion transmembrane transport The process in which an inorganic ion is transported across a membrane. tmpaxzxjjyw_mondo_relaxed.owl inorganic ion membrane transport|transmembrane inorganic ion transport owl:Class UBERON:0004679 biolink:NamedThing dentate gyrus molecular layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009780 biolink:NamedThing lethal omphalocele-cleft palate syndrome Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition. tmpaxzxjjyw_mondo_relaxed.owl Czeizel syndrome|omphalocele cleft palate syndrome lethal|omphalocele-cleft palate syndrome, lethal|cleft palate-omphalocele syndrome, lethal UMLS:C1850317|OMIM:258320|MESH:C537747|ICD10:Q87.8|Orphanet:2736|SCTID:719408007|GARD:0004079 https://rarediseases.info.nih.gov/diseases/4079/omphalocele-cleft-palate-syndrome-lethal owl:Class MONDO:0008343 biolink:NamedThing pulmonary atresia with ventricular septal defect Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot. tmpaxzxjjyw_mondo_relaxed.owl pulmonary valve atresia with ventricular septal defect|pulmonary atresia with ventricular septal defect ICD10:Q25.5|UMLS:C0344976|NCIT:C99033|SCTID:253591008|OMIM:178370|GARD:0004588|MESH:C562833|Orphanet:1207 https://rarediseases.info.nih.gov/diseases/4588/pulmonary-atresia-with-ventricular-septal-defect owl:Class MONDO:0031009 biolink:NamedThing Glanzmann thrombasthenia 2 tmpaxzxjjyw_mondo_relaxed.owl bleeding disorder, platelet-type, 23|Glanzmann thrombasthenia 2|GT2 OMIM:619267 owl:Class MONDO:0020146 biolink:NamedThing major induction processes eye anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98554 owl:Class CL:1001568 biolink:NamedThing pulmonary artery endothelial cell tmpaxzxjjyw_mondo_relaxed.owl PAEC cell BTO:0001141 cl owl:Class MONDO:0019786 biolink:NamedThing severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:94066|ICD10:Q87.8 owl:Class MONDO:0002361 biolink:NamedThing transverse colon cancer A malignant neoplasm involving the transverse colon. tmpaxzxjjyw_mondo_relaxed.owl Ca transverse colon|malignant neoplasm of transverse colon|transverse colon cancer|cancer of transverse colon|malignant transverse colon neoplasm|malignant tumor of transverse colon ICD10:C18.4|SCTID:363408006|UMLS:C0153434|DOID:261|ICD9:153.1 owl:Class MONDO:0007918 biolink:NamedThing microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl lymphedema, microcephaly, chorioretinopathy syndrome|microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant|microcephaly, lymphedema, chorioretinal dysplasia syndrome|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|lymphedema and retinal folds with ficrocephaly and microphthalmos|microcephaly-lymphedema-chorioretinopathy syndrome|MLCRD|microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability|microcephaly lymphedema chorioretinal dysplasia|chorioretinal dysplasia-microcephaly-intellectual disability syndrome|lymphedema and retinal Folds with microcephaly and microphthalmos|lymphedema, microcephaly and chorioretinopathy syndrome|chorioretinal dysplasia-microcephaly-mental retardation syndrome|MCLMR|Cdmmr syndrome|Mlcrd syndrome|microcephaly with or without chorioretinopathy, lymphedema, or mental retardation ICD10:Q87.8|UMLS:C1835265|DOID:0060349|OMIM:152950|MESH:C537711|GARD:0003622|Orphanet:2526 owl:Class MONDO:0007551 biolink:NamedThing localized epidermolysis bullosa simplex Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. tmpaxzxjjyw_mondo_relaxed.owl Weber-Cockayne syndrome|epidermolysis bullosa of hands and feet|epidermolysis bullosa simplex, Weber-Cockayne type|Weber-Cockayne type epidermolysis bullosa simplex|epidermolysis bullosa simplex of palms and soles|EBS-loc|epidermolysis bullosa simplex, localized|EBS, acral form OMIM:131800|SCTID:294705005|ICD9:757.39|Orphanet:79400|ICD10:Q81.0|DOID:0080510|GARD:0002146 https://rarediseases.info.nih.gov/diseases/2146/epidermolysis-bullosa-simplex-localized owl:Class GO:0060485 biolink:NamedThing mesenchyme development The process whose specific outcome is the progression of a mesenchymal tissue over time, from its formation to the mature structure. A mesenchymal tissue is made up of loosely packed stellate cells. tmpaxzxjjyw_mondo_relaxed.owl mesenchymal development owl:Class MONDO:0019230 biolink:NamedThing inborn disorder of ornithine or proline metabolism tmpaxzxjjyw_mondo_relaxed.owl disorder of ornithine or proline metabolism Orphanet:79185|UMLS:CN227595 owl:Class MONDO:0009721 biolink:NamedThing Nathalie syndrome Nathalie syndrome is characterised by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother. tmpaxzxjjyw_mondo_relaxed.owl Nathalie syndrome|deafness-cataract-skeletal anomalies syndrome|deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics|sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome|deafness-cataracts-skeletal anomalies syndrome ICD10:Q87.8|OMIM:255990|UMLS:C1850626|Orphanet:2663|SCTID:716170005|GARD:0003929|MESH:C538342 https://rarediseases.info.nih.gov/diseases/3929/nathalie-syndrome owl:Class HGNC:2731 biolink:NamedThing DDR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007643 biolink:NamedThing gamma-A-globulin, defect in assembly of tmpaxzxjjyw_mondo_relaxed.owl IgA, defect in Assembly of|gamma-A-globulin, defect in ASSEMBLY OF|Immunoglobulin A, defect in Assembly of UMLS:C1850934|MESH:C564991|OMIM:137050 owl:Class MONDO:0017205 biolink:NamedThing primary oculocerebral lymphoma Primary oculocerebral lymphoma is a rare, primary, organ-specific, extranodal non-Hodgkin's lymphoma (typically diffuse large B-cell lymphoma), simultaneously affecting the intraocular compartments (retina, vitreous, optic nerve, uvea and others) and the central nervous system (commonly the cerebellum, spinal cord or pia mater). The presenting symptoms vary depending on the localization of the tumor and may include vitreous floaters or blurred vision, raised intracranial pressure (headache, vomiting, papilledema) and/or focal neurological deficits. tmpaxzxjjyw_mondo_relaxed.owl primary oculocerebral non-Hodgkin lymphoma Orphanet:279897 owl:Class GO:0009792 biolink:NamedThing embryo development ending in birth or egg hatching The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. tmpaxzxjjyw_mondo_relaxed.owl embryogenesis owl:Class MONDO:0001458 biolink:NamedThing ulnar nerve lesion A peripheral nerve lesion that involves the ulnar nerve. tmpaxzxjjyw_mondo_relaxed.owl peripheral nerve lesion of ulnar nerve|ulnar nerve peripheral nerve lesion|lesion of ulnar nerve ICD10:G56.20|UMLS:C1288279|DOID:12168|ICD10:G56.2|ICD9:354.2|SCTID:367475009 Editor note: todo DP for lesions owl:Class UBERON:0004491 biolink:NamedThing cardiac muscle tissue of interatrial septum tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:561 biolink:NamedThing Escherichia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:19700542 ncbi_taxonomy owl:Class MONDO:0022615 biolink:NamedThing burn goodship syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001041 https://rarediseases.info.nih.gov/diseases/1041/burn-goodship-syndrome owl:Class GO:0045599 biolink:NamedThing negative regulation of fat cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of fat cell differentiation|down regulation of fat cell differentiation|downregulation of fat cell differentiation|negative regulation of adipocyte cell differentiation|inhibition of fat cell differentiation|negative regulation of adipocyte differentiation owl:Class MONDO:0006881 biolink:NamedThing orbital cellulitis Inflammation of the eye tissues posterior to the orbital septum, and generally secondary to an infection spread from adjacent sinuses. Signs and symptoms of the affected eye include sudden loss of vision, erythema, edema, decreased eye movement, and pain. Treatment is conducted via intravenous antibiotics, observation, and surgical intervention when necessary. tmpaxzxjjyw_mondo_relaxed.owl orbital cellulitis MedDRA:10031036|MESH:D054517|ICD9:376.01|UMLS:C0149507|NCIT:C99000|EFO:1001076|ICD10:H05.01|DOID:11234|SCTID:194005002 owl:Class MONDO:0005230 biolink:NamedThing cellulitis Inflammation of the dermis and subcutaneous tissues caused by a bacterial infection. Symptoms include erythema, edema, and pain to the affected area. tmpaxzxjjyw_mondo_relaxed.owl cellulitis|cellulitis (disease) cellulitis (disease) ICD9:682.8|DOID:3488|SCTID:128045006|ICD9:682.9|MESH:D002481|EFO:0003035|Wikipedia:Cellulitis|HP:0100658|NCIT:C26715|ICD10:L03.90 owl:Class MONDO:0015126 biolink:NamedThing polyendocrinopathy tmpaxzxjjyw_mondo_relaxed.owl ICD10:E31.9|ICD10:E31.8|Orphanet:101956|ICD10:E31.0|ICD10:E31.1 owl:Class MONDO:0011170 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2G Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed. tmpaxzxjjyw_mondo_relaxed.owl limb-girdle muscular dystrophy due to telethonin deficiency|muscular dystrophy, limb-girdle, type 2G|Tcap autosomal recessive limb-girdle muscular dystrophy|TCAP autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap|limb-girdle muscular dystrophy, type 2G|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP|LGMD2G DOID:0110281|MESH:C566599|ICD10:G71.0|GARD:0010471|Orphanet:34514|SCTID:720522001|OMIM:601954 owl:Class MONDO:0024360 biolink:NamedThing central sleep apnea caused by high altitude tmpaxzxjjyw_mondo_relaxed.owl central sleep apnea due to high altitude|central sleep apnea caused by high altitude SCTID:91441000119109|UMLS:C4075997 owl:Class MONDO:0100220 biolink:NamedThing Rajab interstitial lung disease with brain calcifications 2 tmpaxzxjjyw_mondo_relaxed.owl RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2|RILDBC2 OMIM:619013 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0044718 biolink:NamedThing alkaline ceramidase 3 deficiency tmpaxzxjjyw_mondo_relaxed.owl leukodystrophy due to alkaline ceramidase 3 deficiency|PLDECO|leukodystrophy, progressive, early childhood-onset|ACER3-related early childhood-onset progressive leukodystrophy OMIM:617762|Orphanet:502444|UMLS:CN603947 owl:Class HGNC:1754 biolink:NamedThing CDH15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022642 biolink:NamedThing childhood carcinoid tumor A rare carcinoid tumor that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl carcinoid tumor childhood|pediatric carcinoid tumor (disease)|childhood carcinoid tumor|childhood carcinoid tumor (disease)|carcinoid tumor (disease) of childhood NCIT:C118810|UMLS:C3899673|GARD:0009315 https://rarediseases.info.nih.gov/diseases/9315/carcinoid-tumor-childhood owl:Class MONDO:0033821 biolink:NamedThing fungal keratitis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:519930 owl:Class MONDO:0009175 biolink:NamedThing eosinophilic fasciitis Eosinophilic fasciitis is a rare connective tissue disease that is characterized by inflammation and thickening of the fascia, usually associated with peripheral eosinophilia. It presents during adulthood with symmetrical and painful swelling of mainly the extremities that progressively become indurated. Fatigue, disabling cutaneous fibrosis, myositis and arthritis may also be observed. tmpaxzxjjyw_mondo_relaxed.owl EF|eosinophilic fasciitis|Shulman syndrome|diffuse fasciitis with eosinophilia|eosinophilic fasciitis (disease) eosinophilic fasciitis (disease) MedDRA:10014954|ICD10:M35.4|OMIM:226350|UMLS:C0264005|ICD9:728.89|HP:0045029|NCIT:C112116|Orphanet:3165|SCTID:24129002|GARD:0006351 owl:Class MONDO:0003471 biolink:NamedThing Pediculus humanus capitis infestation A infectious disease involving Pediculus humanus capitis. tmpaxzxjjyw_mondo_relaxed.owl Pediculus humanus capitis infection|Pediculus capitis|Pediculus capitis [head louse]|head louse infestation|infections, Pediculus humanus capitis|pediculosis capitis|Pediculus capitis infestation ICD10:B85.0|ICD9:132.0|UMLS:C0030757|SCTID:81000006|DOID:5501 owl:Class MONDO:0003472 biolink:NamedThing lice infestation A contagious infestation of parasitic insects found on the head (Pediculus humanus capitis), body (Pediculus humanus corporis), or pubic area (Pthirus pubis) that typically cause itching and rash. tmpaxzxjjyw_mondo_relaxed.owl Pediculus humanus infection|louse infestation|pediculosis|mixed pediculosis|pediculosis and Phthirus infection|pediculosis and Phthirus infections|louse infestation (& [pediculosis and Phthirus] or [lice])|infections, Pediculus humanus|mixed pediculosis infestation|pediculosis + lice|pediculosis and Phthirus infestation|pediculosis, unspecified|infestation by Pediculus DOID:5502|UMLS:C0277351|NCIT:C128401|ICD10:B85.2|UMLS:C0153317|UMLS:C0030756|ICD9:132.9|MESH:D010373 owl:Class UBERON:0004857 biolink:NamedThing skeletal muscle connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002826 biolink:NamedThing negative regulation of T-helper 1 type immune response Any process that stops, prevents, or reduces the frequency, rate, or extent of a T-helper 1 type immune response. tmpaxzxjjyw_mondo_relaxed.owl down regulation of T-helper 1 type immune response|downregulation of T-helper 1 type immune response|down-regulation of T-helper 1 type immune response|inhibition of T-helper 1 type immune response owl:Class UBERON:0014875 biolink:NamedThing distal epiphysis of distal phalanx of pedal digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019545 biolink:NamedThing systemic monochloroacetate poisoning Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours. tmpaxzxjjyw_mondo_relaxed.owl ICD10:T60.3|Orphanet:90069 owl:Class MONDO:0002403 biolink:NamedThing synovium cancer A cancer that involves the layer of synovial tissue. tmpaxzxjjyw_mondo_relaxed.owl malignant synovial tumor|layer of synovial tissue cancer|cancer of layer of synovial tissue|malignant neoplasm of synovial membrane of synovial joint|malignant synovial neoplasm|malignant tumor of synovium|synovial membrane of synovial joint cancer|malignant neoplasm of the synovium|malignant synovial membrane of synovial joint neoplasm|cancer of synovial membrane of synovial joint|malignant neoplasm of layer of synovial tissue|malignant neoplasm of synovium|malignant layer of synovial tissue neoplasm|malignant tumor of the synovium NCIT:C6531|UMLS:C1334624|DOID:2706 owl:Class GO:0046110 biolink:NamedThing xanthine metabolic process The chemical reactions and pathways involving xanthine, 2,6-dihydroxypurine, a purine formed in the metabolic breakdown of guanine but not present in nucleic acids. tmpaxzxjjyw_mondo_relaxed.owl xanthine metabolism owl:Class HGNC:31399 biolink:NamedThing SLC6A17 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018843 biolink:NamedThing embryonal carcinoma of the central nervous system A embryonal carcinoma that involves the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl embryonal carcinoma of the CNS|central nervous system embryonal carcinoma|embryonal carcinoma of the central nervous system|embryonal carcinoma of CNS|embryonal carcinoma ICD10:C71.9|UMLS:C1333377|Orphanet:48736|ONCOTREE:BEC|DOID:7232|NCIT:C7010 owl:Class MONDO:0005440 biolink:NamedThing embryonal carcinoma A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum). tmpaxzxjjyw_mondo_relaxed.owl embryonal carcinoma|carcinoma, embryonal, malignant|primary extragonadal embryonal carcinoma GARD:0005140|NCIT:C3752|MESH:D018236|Orphanet:180226|ICDO:9070/3|UMLS:C0206659|DOID:3308|ONCOTREE:EMBCA|EFO:0004986|ICD10:C71.9|ICD10:C22.7 Editor note: TODO check classification w.r.t carcinoma https://rarediseases.info.nih.gov/diseases/5140/embryonal-carcinoma owl:Class HGNC:19688 biolink:NamedThing NECTIN4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1377 biolink:NamedThing CA5A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005399 biolink:NamedThing venous thromboembolism Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream. tmpaxzxjjyw_mondo_relaxed.owl venous thromboembolism MESH:D054556|EFO:0004286|NCIT:C99537|UMLS:C1861172 owl:Class MONDO:0032677 biolink:NamedThing lissencephaly 9 with complex brainstem malformation tmpaxzxjjyw_mondo_relaxed.owl LIS9|LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION Orphanet:572013|OMIM:618325 owl:Class MONDO:0005956 biolink:NamedThing septicemic plague A plague in which the bacteria have entered the bloodstream. tmpaxzxjjyw_mondo_relaxed.owl DOID:3481|SCTID:9012003|ICD10:A20.7|EFO:0007481|MESH:D010930|UMLS:C0152936|ICD9:020.2 owl:Class GO:0045830 biolink:NamedThing positive regulation of isotype switching Any process that activates or increases the frequency, rate or extent of isotype switching. tmpaxzxjjyw_mondo_relaxed.owl up regulation of isotype switching|up-regulation of isotype switching|positive regulation of class switch recombination|positive regulation of class switching|positive regulation of isotype switch recombination|upregulation of isotype switching|activation of isotype switching|stimulation of isotype switching owl:Class UBERON:0010165 biolink:NamedThing collection of hair on face tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024419 biolink:NamedThing enthesitis Inflammation at the site of insertion of ligaments, tendons, and other fibrous structures into bone. tmpaxzxjjyw_mondo_relaxed.owl inflammatory enthesopathy|inflammation of enthesis|enthesis inflammation|enthesitis UMLS:C1282952|NCIT:C114470|SCTID:359643005 owl:Class UBERON:0014382 biolink:NamedThing collection of hairs on head or neck tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001717 biolink:NamedThing posterior corneal pigmentation tmpaxzxjjyw_mondo_relaxed.owl posterior corneal pigmentations ICD10:H18.05|ICD9:371.13|SCTID:267639001|DOID:13448|UMLS:C0155106 owl:Class MONDO:0011158 biolink:NamedThing autoimmune lymphoproliferative syndrome type 1 tmpaxzxjjyw_mondo_relaxed.owl Canale-Smith syndrome|autoimmune lymphoproliferative syndrome, type 1B|autoimmune lymphoproliferative syndrome, type I, autosomal recessive|ALPS|autoimmune lymphoproliferative syndrome type 1|autoimmune lymphoproliferative syndrome, type I, autosomal dominant|autoimmune lymphoproliferative syndrome, type 1A|autoimmune lymphoproliferative syndrome UMLS:C1328840|Orphanet:3261|SCTID:702444009|OMIM:601859|ICD9:279.41 owl:Class GO:1904221 biolink:NamedThing negative regulation of serine C-palmitoyltransferase activity Any process that stops, prevents or reduces the frequency, rate or extent of serine C-palmitoyltransferase activity. tmpaxzxjjyw_mondo_relaxed.owl down regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|negative regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|inhibition of serine C-palmitoyltransferase activity|negative regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|down-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|downregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|inhibition of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|inhibition of 3-oxosphinganine synthetase activity|down-regulation of serine C-palmitoyltransferase activity|down-regulation of SPT|inhibition of SPT|inhibition of acyl-CoA:serine C-2 acyltransferase decarboxylating|down regulation of 3-oxosphinganine synthetase activity|down-regulation of 3-oxosphinganine synthetase activity|down-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|down regulation of SPT|downregulation of SPT|down regulation of serine C-palmitoyltransferase activity|down regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|negative regulation of 3-oxosphinganine synthetase activity|downregulation of serine C-palmitoyltransferase activity|downregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|downregulation of 3-oxosphinganine synthetase activity|negative regulation of SPT owl:Class GO:0051348 biolink:NamedThing negative regulation of transferase activity Any process that stops or reduces the rate of transferase activity, the catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from a donor compound to an acceptor. tmpaxzxjjyw_mondo_relaxed.owl inhibition of transferase activity|down-regulation of transferase activity|transferase inhibitor|down regulation of transferase activity|downregulation of transferase activity owl:Class HP:0002536 biolink:NamedThing Abnormal cortical gyration An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. tmpaxzxjjyw_mondo_relaxed.owl Cerebral gyral anomalies|Abnormal gyration UMLS:C1856019 HP:0006900 human_phenotype owl:Class HP:0002538 biolink:NamedThing Abnormal cerebral cortex morphology Any structural abnormality of the cerebral cortex. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the cerebral cortex UMLS:C4025701 The cerebral cortex constitutes more than half the volume of the human brain and is presumed to be responsible for the neuronal computations underlying complex phenomena, such as perception, thought, language, attention, episodic memory and voluntary movement. human_phenotype owl:Class MONDO:8000014 biolink:NamedThing familial antiphospholipid syndrome Autosomal dominant form of antiphospholipid syndrome. tmpaxzxjjyw_mondo_relaxed.owl Hughes syndrome|antiphospholipid syndrome, familial UMLS:C2930802|OMIM:107320|MESH:C531622|GARD:0005824 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0034706 biolink:NamedThing proliferating neuroepithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18782 biolink:NamedThing CCDC6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011220 biolink:NamedThing parkinson disease 3, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl PARK3|Parkinson disease 3, autosomal dominant Lewy body|Parkinson disease 3, autosomal dominant|autosomal dominant Parkinson disease|Parkinson disease type 3 MESH:C566552|Orphanet:2828|DOID:0111250|UMLS:C1865581|GARD:0008578|OMIM:602404 owl:Class NCBITaxon:63672 biolink:NamedThing Turbo tmpaxzxjjyw_mondo_relaxed.owl Turbo GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:63671 biolink:NamedThing Turbinidae tmpaxzxjjyw_mondo_relaxed.owl turban shells GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013797 biolink:NamedThing chromosome 17q12 deletion syndrome 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported. tmpaxzxjjyw_mondo_relaxed.owl chromosome 17q12 deletion syndrome|monosomy 17q12|Del(17)(q12)|17q12 recurrent deletion syndrome|17q12 deletion syndrome|17q12 microdeletion syndrome UMLS:C4518822|UMLS:C3281138|OMIM:614527|ICD10:Q93.5|SCTID:733519008|DOID:0060404|GARD:0013297|Orphanet:261265 owl:Class MONDO:0008140 biolink:NamedThing ossified ear cartilages tmpaxzxjjyw_mondo_relaxed.owl ossified ear cartilages UMLS:C1833791|OMIM:165670|MESH:C563488 owl:Class MONDO:0010865 biolink:NamedThing pseudoaminopterin syndrome Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature. tmpaxzxjjyw_mondo_relaxed.owl ASSA|aminopterin syndrome-like sine aminopterin|pseudoaminopterin syndrome|aminopterin syndrome sine aminopterin Orphanet:221120|UMLS:C0795939|ICD10:Q82.0|GARD:0004544|SCTID:715867000|MESH:C535823|OMIM:600325 https://rarediseases.info.nih.gov/diseases/4544/pseudoaminopterin-syndrome owl:Class MONDO:0003792 biolink:NamedThing ovarian carcinosarcoma A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements. tmpaxzxjjyw_mondo_relaxed.owl ovarian malignant mixed mesodermal Mullerian neoplasm|malignant mixed mesodermal Müllerian tumor of the ovary|carcinosarcoma of the ovary|malignant mixed mesodermal Mullerian tumor of ovary|malignant mixed mesodermal Müllerian neoplasm of ovary|malignant mixed mesodermal Müllerian tumor of ovary|ovarian malignant mixed mesodermal Mullerian tumor|ovarian malignant mixed Müllerian tumor|ovarian carcinosarcoma/malignant mixed mesodermal tumor|malignant mixed mesodermal Mullerian neoplasm of the ovary|ovarian malignant mixed epithelial mesenchymal tumor|ovarian malignant mesodermal (Mullerian) mixed tumor|carcinosarcoma of ovary|ovarian malignant mixed Müllerian neoplasm|ovary carcinosarcoma|malignant mixed mesodermal Mullerian tumor of the ovary|ovarian malignant mixed Mullerian neoplasm|malignant mixed Müllerian tumor of the ovary|MMMT of the ovary|ovarian malignant mixed mesodermal (Mullerian) tumor|ovarian malignant mesodermal (Müllerian) mixed tumor|ovarian malignant mesodermal (mullerian) mixed tumor|ovarian carcinosarcoma|ovarian MMMT|ovarian malignant mixed mesodermal Müllerian tumor|ovarian malignant mixed mesodermal (Müllerian) tumor|ovarian malignant mixed mesodermal Müllerian neoplasm|malignant mixed mesodermal Mullerian neoplasm of ovary|malignant mixed mesodermal Müllerian neoplasm of the ovary|ovarian malignant mixed Mullerian tumor DOID:6170|Orphanet:213512|UMLS:C0392998|ONCOTREE:OCS|SCTID:702368000|NCIT:C9192|GARD:0007296|EFO:1000412|ICD10:C56 MONDO:0016247 owl:Class MONDO:0003812 biolink:NamedThing ovarian endometrial cancer A benign, borderline, or malignant epithelial tumor of the ovary characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells. tmpaxzxjjyw_mondo_relaxed.owl malignant ovarian endometrioid tumor|ovary endometrioid tumor|ovarian endometrioid neoplasm|endometrioid tumor of ovary|ovary female reproductive endometrioid cancer|endometrioid neoplasm of ovary DOID:6212|NCIT:C40051|UMLS:C1518231 owl:Class MONDO:0003052 biolink:NamedThing granulomatous endometritis Chronic inflammation of the endometrium characterized by the presence of epithelioid granulomas. Causes include tuberculosis, fungal infections, parasitic infections, and sarcoidosis. tmpaxzxjjyw_mondo_relaxed.owl granulomatous endometritis NCIT:C27626|DOID:4561|UMLS:C1333876 owl:Class MONDO:0012017 biolink:NamedThing Parkes Weber syndrome Parkes Weber syndrome (PWS) is a rare congenital condition characterized by a large number of abnormal blood vessels.The main signs and symptoms of PWS typically include a capillary malformation on the skin; hypertrophy (excessive growth) ofthe bone and soft tissue of the affected limb; and multiple arteriovenousfistulas (abnormal connections between arteries and veins) which canpotentially lead to heart failure. There also may be pain in the affected limb and a difference in size between the limbs. Some cases of Parkes Weber syndrome result from mutations inthe RASA1 gene, andare inherited in an autosomal dominant manner. In these cases, affected people usually have multiple capillary malformations. People with PWS without multiple capillary malformations are unlikely to have mutations in the RASA1 gene; in these cases, the cause of the condition is often unknown. Management typically depends on the presence and severity of symptoms and may includeembolization or surgery in the affected limb. tmpaxzxjjyw_mondo_relaxed.owl Parkes Weber syndrome|PKWS|Pkws|PARKES WEBER syndrome Orphanet:90307|ICD9:759.6|UMLS:CN074207|UMLS:CN206396|SCTID:234143003|GARD:0009787|Orphanet:2346|ICD10:Q87.2|OMIM:608355 https://rarediseases.info.nih.gov/diseases/9787/parkes-weber-syndrome owl:Class UBERON:0004939 biolink:NamedThing submucosa of common bile duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015787 biolink:NamedThing upper respiratory conduit tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014131 biolink:NamedThing hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl SHNS|SHAHEEN syndrome OMIM:615328|UMLS:C3809160|Orphanet:363523|ICD10:Q82.8 owl:Class MONDO:0011573 biolink:NamedThing psoriasis 7, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl PSORS7|psoriasis 7, susceptibility to DOID:0111279|OMIM:605606 owl:Class MONDO:0008309 biolink:NamedThing primary release disorder of platelets tmpaxzxjjyw_mondo_relaxed.owl bleeding disorder due to primary defects in platelet release mechanism|primary release disorder of platelets UMLS:C1867770|MESH:C566759|OMIM:176630|GARD:0010357 https://rarediseases.info.nih.gov/diseases/10357/primary-release-disorder-of-platelets owl:Class IAO:8000008 biolink:NamedThing analysis subset ontology module An ontology module that is intended for usage in analysis or discovery applications. tmpaxzxjjyw_mondo_relaxed.owl analysis ontology module owl:Class IAO:8000006 biolink:NamedThing subset ontology module An ontology module that is extracted from a main ontology module and includes only a subset of entities or axioms. tmpaxzxjjyw_mondo_relaxed.owl subset ontology|ontology slim subset ontology module owl:Class MONDO:0021010 biolink:NamedThing skin lymphangiosarcoma A malignant vascular neoplasm of the skin arising from the lymphatic vessels. tmpaxzxjjyw_mondo_relaxed.owl skin lymphangiosarcoma|lymphangiosarcoma of the skin|lymphangiosarcoma of skin|lymphangiosarcoma of Stewart and Treves UMLS:C0346082|NCIT:C4490|DOID:2689|SCTID:62497000|ICD9:171.2 owl:Class HGNC:18828 biolink:NamedThing NDUFAF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051039 biolink:NamedThing positive regulation of transcription involved in meiotic cell cycle Any process that activates or increases the frequency, rate or extent of transcription as part of a meiotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl up regulation of transcription during meiosis|positive regulation of transcription, meiotic|activation of transcription during meiosis|upregulation of transcription during meiosis|stimulation of transcription during meiosis|up-regulation of transcription during meiosis|positive regulation of meiotic transcription owl:Class HGNC:9958 biolink:NamedThing REN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020083 biolink:NamedThing immunodeficiency-associated lymphoproliferative disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206985|Orphanet:98290|ICD10:D47.9 owl:Class MONDO:0020499 biolink:NamedThing Nipah virus disease Nipah virus disease, caused by the Nipah virus, is a recently discovered zoonotic disease characterized by fever, constitutional symptoms and encephalitis, sometimes accompanied by respiratory illness. tmpaxzxjjyw_mondo_relaxed.owl Nipah fever|Nipah encephalitis|Nipah virus infectious disease UMLS:CN207389|Orphanet:99825|DOID:0050192|ICD10:A98.8 owl:Class MONDO:0005155 biolink:NamedThing cirrhosis of liver A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy. tmpaxzxjjyw_mondo_relaxed.owl liver cirrhosis|cirrhosis of liver|cirrhosis SCTID:19943007|OMIM:215600|UMLS:C0023890|EFO:0001422|DOID:5082|ICD9:571.5|MESH:D008103|ICD10:K74.60|NCIT:C2951 owl:Class GO:0046873 biolink:NamedThing metal ion transmembrane transporter activity Enables the transfer of metal ions from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl heavy metal ion porter activity|low affinity metal ion uptake transporter activity|heavy metal ion:hydrogen symporter activity|heavy metal ion transporter activity|heavy metal-exporting ATPase activity|high affinity metal ion uptake transporter activity owl:Class MONDO:0030962 biolink:NamedThing nephrotic syndrome, type 23 tmpaxzxjjyw_mondo_relaxed.owl NPHS23|nephrotic syndrome, type 23 OMIM:619201 owl:Class MONDO:0005970 biolink:NamedThing staphylococcal pneumonia Pneumonia caused by infections with bacteria of the genus staphylococcus, usually with staphylococcus aureus. tmpaxzxjjyw_mondo_relaxed.owl Staphylococcus caused pneumonia|Staphylococcus pneumonia ICD9:482.4|EFO:0007496|ICD9:482.49|ICD9:482.40|MESH:D011023|SCTID:22754005 owl:Class MONDO:0024313 biolink:NamedThing staphylococcal infection An infection caused by Staphylococcus. tmpaxzxjjyw_mondo_relaxed.owl staphylococcal infection SCTID:56038003|NCIT:C35038|MESH:D013203 owl:Class MONDO:0006037 biolink:NamedThing hydrolethalus syndrome Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Salonen-Herva-Norio syndrome|hydrolethalus|HLS OMIM:614120|EFO:1000033|MESH:C536079|ICD10:Q87.8|GARD:0006683|SCTID:721232000|UMLS:C2931104|OMIMPS:236680|Orphanet:2189|OMIM:236680|DOID:0050779 https://rarediseases.info.nih.gov/diseases/6683/hydrolethalus-syndrome owl:Class MONDO:0009268 biolink:NamedThing Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement. tmpaxzxjjyw_mondo_relaxed.owl cardiovascular Gaucher disease|Gaucher disease type 3C|Gaucher disease, type 3C|Gaucher disease - ophthalmoplegia - cardiovascular calcification|pseudo Gaucher disease|Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome|Gaucher disease, type IIIC|Gaucher-like disease GARD:0012504|UMLS:C2931585|GARD:0002445|OMIM:231005|ICD10:E75.2|UMLS:C1856476|Orphanet:2072|MESH:C565553|Orphanet:355 owl:Class ENVO:01000452 biolink:NamedThing environmental disposition A disposition which is realised by an environmental system or system parts thereof. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18368 biolink:NamedThing PADI4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011693 biolink:NamedThing glaucoma, normal tension, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl NTG|glaucoma, normal pressure, susceptibility to|glaucoma, normal tension, susceptibility to OMIM:606657 owl:Class HGNC:7166 biolink:NamedThing MMP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009147 biolink:NamedThing ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|ectodermal dysplasia, anhidrotic|ectodermal dysplasia, hypohidrotic|ECTD10B Orphanet:248|UMLS:C3887494|DOID:0111665|Orphanet:238468|OMIM:224900|UMLS:C0406702 owl:Class HGNC:11916 biolink:NamedThing TNFRSF1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033554 biolink:NamedThing immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia|IMD73B OMIM:618986 owl:Class MONDO:0002104 biolink:NamedThing conversion disorder Conversion disorder is a disorder in which a person experiences blindness, paralysis, or other symptoms affecting the nervous system that cannot be explained solely by a physical illness or injury. Symptoms usually begin suddenly after a period of emotional or physical distress or psychological conflict. Conversion disorder is thought to be caused by the bodys reaction to a stressful physical or emotional event. Some research has identified potential neurological changes that may be related to symptoms of the disorder. Diagnosis of conversion disorder is based on identifying particular signs that are common among people with the disorder, as well as performing tests to rule out other causes of the symptoms. Treatment may include psychotherapy, hypnosis, and stress management training to help reduce symptoms. Treatment of any underlying psychological disorder is also recommended. The affected body part may require physical or occupational therapy until symptoms resolve. tmpaxzxjjyw_mondo_relaxed.owl functional movement disorder|hysterical neurosis, conversion type|functional neurological disorder|conversion hysterical neurosis|FND|conversion hysteria or reaction MESH:D003291|ICD9:300.11|ICD10:F44|GARD:0006191|DOID:1768 https://rarediseases.info.nih.gov/diseases/6191/conversion-disorder owl:Class GO:0099124 biolink:NamedThing axonal dopamine secretion The regulated release of dopamine from an axon. tmpaxzxjjyw_mondo_relaxed.owl axonal dopamine release|axonal DA release owl:Class UBERON:0019310 biolink:NamedThing glossopharyngeal nerve root tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004537 biolink:NamedThing intestinal variant cervical mucinous adenocarcinoma A cervical mucinous adenocarcinoma that resembles the large intestinal adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl cervical mucinous adenocarcinoma, intestinal-type|intestinal type mucinous carcinoma|cervical mucinous adenocarcinoma, intestinal variant UMLS:C1516422|DOID:8339|NCIT:C40203|ONCOTREE:ICEMU owl:Class MONDO:0000652 biolink:NamedThing integumentary system benign neoplasm A benign neoplasm that involves the integumental system. tmpaxzxjjyw_mondo_relaxed.owl integumental system benign neoplasm DOID:0060121 owl:Class HGNC:11599 biolink:NamedThing TBX21 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005185 biolink:NamedThing renal medulla collecting duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002269 biolink:NamedThing Abnormality of neuronal migration An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. tmpaxzxjjyw_mondo_relaxed.owl Heterotopias/abnormal migration|Neuronal migration disorder|Abnormal neuronal migration|Migrational brain disorder MSH:D054081|UMLS:C1837249 HP:0007317 human_phenotype owl:Class HP:0001600 biolink:NamedThing Abnormality of the larynx An abnormality of the larynx. tmpaxzxjjyw_mondo_relaxed.owl Laryngeal anomalies|Laryngeal abnormalities UMLS:C4021777 human_phenotype owl:Class CL:1000324 biolink:NamedThing duodenal goblet cell A goblet cell that is part of the epithelium proper of duodenum. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of epithelium proper of duodenum FMA:263063 cell owl:Class MONDO:0100395 biolink:NamedThing acute myeloid leukemia, t(5;11)(q35;p15) Any acute myeloid leukemia that has the chromosomal anomaly t(5;11)(q35;p15). (A cytogenetic abnormality that refers to the translocation of chromosome 11p15 with chromosome 5q35. It results in the formation of NUP98/NSD1 fusion gene. It is associated with the development of acute myeloid leukemia with t(5;11)(q35;p15); NUP98-NSD1.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(5;11)(q35;p15) NCIT:C131502|NCIT:C131503 owl:Class MONDO:0060704 biolink:NamedThing neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures tmpaxzxjjyw_mondo_relaxed.owl NEDSBAS|Elhattab-Alkuraya syndrome|neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures OMIM:617977|UMLS:CN244929 owl:Class CHEBI:78113 biolink:NamedThing fatty acid anion 3:0 Any saturated fatty acid anion containing 3 carbons. Formed by deprotonation of the carboxylic acid moiety. Major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl fatty acid 3:0 owl:Class ENVO:09200012 biolink:NamedThing temperature of soil The temperature of some soil. tmpaxzxjjyw_mondo_relaxed.owl soil temperature owl:Class UBERON:0001607 biolink:NamedThing sphincter pupillae tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017789 biolink:NamedThing idiopathic linear interstitial keratitis Idiopathic linear interstitial keratitis is a rare, acquired ocular disease characterized by migratory or non-migratory, horizontal, linear, stromal infiltrates that may heal spontaneously. Minimal vascularization and scarring may be observed but vision loss is not associated. tmpaxzxjjyw_mondo_relaxed.owl ICD10:H16.3|Orphanet:314017 owl:Class MONDO:0008278 biolink:NamedThing juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome tmpaxzxjjyw_mondo_relaxed.owl jPS/Hht|juvenile polyposis with hereditary hemorrhagic telangiectasia|juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|JP/Hht syndrome|JPHT|telangiectasia, hereditary hemorrhagic, with juvenile polyposis coli|polyposis, generalized juvenile, with pulmonary arteriovenous malformation MESH:C563412|OMIM:175050|Orphanet:2929|UMLS:C1832942|DOID:0111543 https://github.com/monarch-initiative/mondo/issues/3685 owl:Class MONDO:0044720 biolink:NamedThing cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome tmpaxzxjjyw_mondo_relaxed.owl CANVAS|cerebellar ataxia with bilateral vestibulopathy syndrome|CABV syndrome Orphanet:504476 owl:Class MONDO:0015738 biolink:NamedThing childhood-onset nemaline myopathy Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction. tmpaxzxjjyw_mondo_relaxed.owl mild nemaline myopathy OMIM:256030|OMIM:609273|OMIM:615731|OMIM:161800|OMIM:609285|Orphanet:171439|OMIM:609284|GARD:0007171|ICD10:G71.2 https://rarediseases.info.nih.gov/diseases/7171/childhood-onset-nemaline-myopathy owl:Class MONDO:0023073 biolink:NamedThing eosinophilic cryptitis Eosinophilic cystitis (EC) is a rare inflammatory bladder condition caused by the build up of eosinophils in the bladder. The exact cause of this condition is not known. However, EC has been found in those with allergies and asthma, and in those with a history of bladder trauma or infection, open bladder surgery, or surgery for a bladder tumor. EC has also been found in those who take certain medications. tmpaxzxjjyw_mondo_relaxed.owl eosinophilic cystitis GARD:0006346|UMLS:C0742965|GARD:0006347|SCTID:445918001|ICD9:595.89 https://rarediseases.info.nih.gov/diseases/6346/eosinophilic-cryptitis|https://rarediseases.info.nih.gov/diseases/6347/eosinophilic-cystitis owl:Class HGNC:4065 biolink:NamedThing GAA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019315 biolink:NamedThing diffuse cutaneous mastocytosis Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM) and one with infiltrations (Pseudoxanthomatous DCM). tmpaxzxjjyw_mondo_relaxed.owl diffuse cutaneous maculopapulous mastocytosis|DCM|diffuse cutaneous mastocytosis GARD:0012686|DOID:3665|ICDO:9740/1|MESH:D034701|UMLS:C0024901|ICD10:Q82.2|NCIT:C3218|MedDRA:10012812|Orphanet:79456 owl:Class MONDO:0019023 biolink:NamedThing cutaneous mastocytosis Cutaneous mastocytosis is a term referring to a group of diseases characterized by abnormal accumulation and proliferation of skin mastocytes. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis. tmpaxzxjjyw_mondo_relaxed.owl cutaneous (skin) mastocytosis|CM|cutaneous mastocytosis|CMCD|cutaneous mastocytosis (disease) Orphanet:66646|DOID:3663|ONCOTREE:CMCD|HP:0200151|OMIM:154800|MESH:D034701|SCTID:397012002|GARD:0007842|ICD10:Q82.2|NCIT:C7137|ICDO:9740/1|EFO:1000886|UMLS:C1136033 owl:Class MONDO:0013918 biolink:NamedThing distal tetrasomy 15q tmpaxzxjjyw_mondo_relaxed.owl tetrasomy 15(q25-qter)|levy-Shanske syndrome|tetrasomy type 15Q26|distal tetrasomy type 15q|tetrasomy 15q26 OMIM:614846|Orphanet:314588|ICD10:Q99.8|Orphanet:314585|UMLS:CN203770|UMLS:C3553858 owl:Class MONDO:0020479 biolink:NamedThing pituitary gigantism The condition of accelerated and excessive growth in children or adolescents who are exposed to excess human growth hormone before the closure of epiphyses. It is usually caused by somatotroph hyperplasia or a growth hormone-secreting pituitary adenoma. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age. tmpaxzxjjyw_mondo_relaxed.owl hypophyseal gigantism|infantile and juvenile forms of acromegaly|gigantism GARD:0006506|ICD10:E22.0|Orphanet:99725|MESH:D005877|MedDRA:10018265|NCIT:C93046|SCTID:86073008|OMIM:102200 owl:Class HP:0010301 biolink:NamedThing Spinal dysraphism A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. tmpaxzxjjyw_mondo_relaxed.owl Incomplete closure of the vertebral arch SNOMEDCT_US:253098009|MSH:D009436|UMLS:C0027794 Spinal dysraphism, or neural tube defect comprises a heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life and anomalous development of the caudal cell mass. The anatomic features common to the entire group is an anomaly in the midline structures of the back, especially the absence of some of the neural arches, and defects of the skin, filum terminale, nerves, and spinal cord. Open forms of spinal dysraphism include myelocele, meningocele, and myelomeningocele. These open forms are often associated with hydrocephalus and Arnold-Chiari malformation type II and may be classified as spina bifida aperta. Closed forms of spinal dysraphism includ spina bifida occulta. peter 2009-07-12T12:58:04Z human_phenotype owl:Class HP:0045005 biolink:NamedThing Neural tube defect A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of neural tube closure UMLS:C0027794|SNOMEDCT_US:253098009|MSH:D009436 HPO:skoehler human_phenotype owl:Class MONDO:0005572 biolink:NamedThing polycythemia due to hypoxia Polycythemia resulting from hypoxia. tmpaxzxjjyw_mondo_relaxed.owl DOID:2835|UMLS:C0856818|NCIT:C27312|EFO:0005805 owl:Class MONDO:0010465 biolink:NamedThing Kabuki syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl Kabuki syndrome 2|KABUK2|KABUKI syndrome 2|Kabuki syndrome type 2 UMLS:C3275495|Orphanet:2322|OMIM:300867 owl:Class HGNC:2511 biolink:NamedThing CTNNA3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000107 biolink:NamedThing Renal cyst A fluid filled sac in the kidney. tmpaxzxjjyw_mondo_relaxed.owl Cystic kidney disease|Cystic kidneys|Kidney cyst|Renal cysts MSH:D052177|UMLS:C0022679|UMLS:C3887499 HP:0000109|HP:0000088 human_phenotype owl:Class MONDO:0016689 biolink:NamedThing gemistocytic astrocytoma A rare variant of diffuse astrocytoma. It is characterized by the presence of a conspicuous, though variable, fraction of gemistocytic neoplastic astrocytes. Gemistocytes are round to oval astrocytes with abundant, glassy, non-fibrillary cytoplasm which appears to displace the dark, angulated nucleus to the periphery of the cell. To make the diagnosis of gemistocytic astrocytoma, gemistocytes should amount to more than approximately 20% of all tumor cells. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl Gemistocytoma|gemistocytic astrocytoma (morphologic abnormality)|gemistocytic astrocytic tumor|gemistocytic astrocytoma UMLS:C0334581|DOID:7005|MESH:D001254|Orphanet:251604|ICDO:9411/3|ICD10:C71.9|NCIT:C4321 owl:Class MONDO:0021312 biolink:NamedThing malignant tumor of adrenal cortex A cancer that involves the adrenal cortex. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of adrenal cortex|malignant neoplasm of the adrenal cortex|malignant tumor of the adrenal cortex|malignant adrenocortical tumor|malignant adrenal cortex tumor|adrenal cortex cancer|cancer of adrenal cortex|malignant adrenal cortex neoplasm|malignant adrenocortical neoplasm SCTID:371964008|NCIT:C9327 owl:Class MONDO:0014348 biolink:NamedThing intellectual disability, autosomal recessive 42 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 42|intellectual disability, autosomal recessive type 42|MRT42|mental retardation, autosomal recessive type 42|PGAP1 autosomal recessive non-syndromic intellectual disability|glycosylphosphatidylinositol biosynthesis defect 9|autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1|intellectual disability, autosomal recessive 42 OMIM:615802|UMLS:C4014343 owl:Class HGNC:7707 biolink:NamedThing NDUFS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010275 biolink:NamedThing spondyloepimetaphyseal dysplasia, Bieganski type Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy. tmpaxzxjjyw_mondo_relaxed.owl LKMCD|SEMD, X-linked, with mental deterioration|spondyloepimetaphyseal dysplasia x-linked with mental deterioration|spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration|SEMD X-linked with mental deterioration|leukoencephalopathy with metaphyseal chondrodysplasia GARD:0004891|ICD10:Q77.7|Orphanet:168448|ICD10:G11.4|MESH:C536671|UMLS:C1846148|MESH:C567065|OMIM:300232 owl:Class MONDO:0010379 biolink:NamedThing Brunner syndrome Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood. tmpaxzxjjyw_mondo_relaxed.owl Brunner syndrome|antisocial behavior, susceptibility to|monoamine oxidase A deficiency|BRNRS UMLS:C0796275|Orphanet:3057|ICD10:E70.8|MESH:C563156|SCTID:718210003|OMIM:300615|GARD:0003531|DOID:0060693 owl:Class MONDO:0022580 biolink:NamedThing blepharo naso facial syndrome van Maldergem type A syndrome characterized by expressionless facies, thickened facial skin, telecanthus with blepharophimosis, lacrimal duct anomalies, unusual nasal shape, and mild excess interdigital webbing. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000902 https://rarediseases.info.nih.gov/diseases/902/blepharo-naso-facial-syndrome-van-maldergem-type owl:Class MONDO:0000090 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions tmpaxzxjjyw_mondo_relaxed.owl progressive external ophthalmoplegia with mtDNA deletions OMIMPS:157640|UMLS:CN239267 owl:Class MONDO:0007287 biolink:NamedThing cataract 41 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 gene. tmpaxzxjjyw_mondo_relaxed.owl cataract 41|congenital nuclear type cataract 41|cataract type 41|cataract 41, congenital nuclear type|CTRCT41|WFS1 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in WFS1 DOID:0110241|Orphanet:98991|Orphanet:91492|UMLS:C3805412|ICD10:Q12.0|OMIM:116400 owl:Class MONDO:0002839 biolink:NamedThing leather-bottle stomach A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas. tmpaxzxjjyw_mondo_relaxed.owl linitis plastica (morphologic abnormality)|linitis plastica NCIT:C3190|ICDO:8142/3|MESH:D008039|UMLS:C0023743|DOID:4023 owl:Class MONDO:0045054 biolink:NamedThing cancer-related condition A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome). tmpaxzxjjyw_mondo_relaxed.owl problem/condition, cancer-related|cancer related problem/condition|problem/condition, cancer related|cancer-related problem or condition|oncologic complications|cancer-related condition NCIT:C8278|UMLS:C0280950 owl:Class MONDO:0008801 biolink:NamedThing anosmia for isobutyric acid tmpaxzxjjyw_mondo_relaxed.owl anosmia for isobutyric acid OMIM:207000 owl:Class MONDO:0002804 biolink:NamedThing apocrine adenoma A benign epithelial neoplasm arising from the apocrine sweat glands. Representative examples include tubular apocrine adenoma and external auditory canal ceruminous adenoma. tmpaxzxjjyw_mondo_relaxed.owl tubular apocrine adenoma UMLS:C0334345|ICDO:8401/0|DOID:3895|SCTID:307596009|NCIT:C4168 owl:Class MONDO:0000563 biolink:NamedThing GRID2-related autosomal dominant spinocerebellar ataxia tmpaxzxjjyw_mondo_relaxed.owl GRID2-related spinocerebellar ataxia DOID:0050988 the DO class DOID:0050988 is named 'GRID2-related spinocerebellar ataxia' and it is asserted to be AD. Most GRID18 mutations are AR, but it is rarelt AD [https://www.ncbi.nlm.nih.gov/books/NBK1138/; Coutelier et al [2015b]]. Here we assume the DO class refers to the rare AD form. Consider merging. owl:Class HGNC:4551 biolink:NamedThing TECR tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006959 biolink:NamedThing humoral immune response An immune response mediated through a body fluid. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011206 biolink:NamedThing ventriculomegaly with defects of the radius and kidney tmpaxzxjjyw_mondo_relaxed.owl ventriculomegaly with defects of the radius and kidney OMIM:602200|UMLS:C1865780|MESH:C566565 owl:Class GO:0006833 biolink:NamedThing water transport The directed movement of water (H2O) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032942 biolink:NamedThing neurodevelopmental disorder with microcephaly and dysmorphic facies tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND DYSMORPHIC FACIES|NEDMIDF OMIM:618828 owl:Class MONDO:0015100 biolink:NamedThing aregenerative anemia tmpaxzxjjyw_mondo_relaxed.owl ICD10:D46.7|MedDRA:10054329|Orphanet:101096|UMLS:C0002893|SCTID:89112009|UMLS:C0553669 owl:Class MONDO:0009127 biolink:NamedThing dwarfism, low-birth-weight type, with unresponsiveness to growth hormone tmpaxzxjjyw_mondo_relaxed.owl dwarfism, low-birth-weight type, with unresponsiveness to growth hormone|dwarfism, low-birth-weight type with unresponsiveness to growth hormone GARD:0003293|MESH:C565615|UMLS:C1857197|OMIM:223500 https://rarediseases.info.nih.gov/diseases/3293/dwarfism-low-birth-weight-type-with-unresponsiveness-to-growth-hormone owl:Class MONDO:0000459 biolink:NamedThing mesenchymal glioblastoma A molecular subtype of glioblastoma characterized by the presence of NF1 mutations. tmpaxzxjjyw_mondo_relaxed.owl mesenchymal glioblastoma|glioblastoma mesenchymal subtype DOID:0050805|UMLS:C3829122|NCIT:C111695 owl:Class MONDO:0018177 biolink:NamedThing glioblastoma The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma, IDH-mutant), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma, IDH- wildtype). (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl GBM (glioblastoma)|primary glioblastoma multiforme|grade IV astrocytic tumor|giant cell glioblastoma (histologic variant)|gliosarcoma (histologic variant)|grade IV astrocytic neoplasm|glioblastoma multiforme|glioblastoma (disease)|glioblastoma multiforme (disease)|spongioblastoma multiforme|grade IV astrocytoma|WHO grade IV glioma|GBM|glioblastoma|grade IV adult astrocytic tumor glioblastoma (disease) UMLS:C0017636|ONCOTREE:GB|OMIM:613029|MedDRA:10018336|SCTID:393563007|HP:0012174|DOID:3068|HP:0100843|UMLS:C1621958|UMLS:CN227279|Orphanet:360|MedDRA:10018337|OMIM:137800|NCIT:C3058|ONCOTREE:GBM|ICDO:9440/3|ICD10:C71.9|GARD:0002491 owl:Class MONDO:0009425 biolink:NamedThing hypomandibular faciocranial dysostosis Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis. tmpaxzxjjyw_mondo_relaxed.owl hypomandibular faciocranial dysostosis GARD:0002907|ICD10:Q75.4|Orphanet:1790|MESH:C537154|OMIM:241310|SCTID:721845005 https://rarediseases.info.nih.gov/diseases/2907/hypomandibular-faciocranial-dysostosis owl:Class UBERON:0035083 biolink:NamedThing transverse process-bearing vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019207 biolink:NamedThing kinase regulator activity Modulates the activity of a kinase, an enzyme which catalyzes of the transfer of a phosphate group, usually from ATP, to a substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001453 biolink:NamedThing senile reticular retinal degeneration tmpaxzxjjyw_mondo_relaxed.owl Senile reticular degeneration of retina ICD9:362.64|UMLS:C0154857|DOID:12163|SCTID:54184008 owl:Class MONDO:0003728 biolink:NamedThing breast fibrosarcoma A usually aggressive malignant neoplasm arising from the breast. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpaxzxjjyw_mondo_relaxed.owl fibrosarcoma of breast|breast fibrosarcoma|breast fibrosarcoma (disease)|fibrosarcoma of the breast DOID:6001|NCIT:C5185|UMLS:C1332630 owl:Class MONDO:0001235 biolink:NamedThing appendix cancer A malignant neoplasm involving the vermiform appendix tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the appendix|malignant neoplasm of vermiform appendix|malignant vermiform appendix neoplasm|malignant neoplasm of appendix vermiformis|malignant appendix neoplasm|cancer of the appendix|malignant neoplasm of appendix|malignant tumor of the appendix|vermiform appendix cancer|malignant tumor of appendix|malignant appendix tumor|cancer of vermiform appendix SCTID:363411007|UMLS:C0496779|ICD9:153.5|ICD10:C18.1|NCIT:C9333|DOID:11239|MESH:D001063 owl:Class HP:0100659 biolink:NamedThing Abnormal cerebral vascular morphology An anomaly of the cerebral blood vessels. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the cerebral blood vessels|Abnormality of the cerebral vasculature UMLS:C4022001 doelkens 2010-12-30T11:39:15Z human_phenotype owl:Class CL:0002014 biolink:NamedThing Kit-negative, Ly-76 high basophilic erythroblast A basophilic erythroblast that is Lyg 76-high and is Kit-negative. tmpaxzxjjyw_mondo_relaxed.owl Cell surface markers are associated with mouse cells. tmeehan 2010-04-26T10:41:22Z cell owl:Class CL:0000549 biolink:NamedThing basophilic erythroblast A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers. tmpaxzxjjyw_mondo_relaxed.owl early normoblast|early erythroblast|prorubricyte|basophilic normoblast FMA:83505 cell owl:Class MONDO:0006648 biolink:NamedThing anterior compartment syndrome Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive physical exertion. tmpaxzxjjyw_mondo_relaxed.owl anterior compartment syndrome ICD10:M76.81|DOID:3933|UMLS:C0003152|NCIT:C118422|MESH:D000868|EFO:1000808|SCTID:12694001 owl:Class GO:0043143 biolink:NamedThing regulation of translation by machinery localization Any process in which proteins and protein complexes involved in translation are transported to, or maintained in, a specific location. tmpaxzxjjyw_mondo_relaxed.owl regulation of translation by machinery localisation|establishment and maintenance of translational protein localization|translational machinery localization|translational protein localization|establishment and maintenance of translational machinery localization owl:Class GO:0008104 biolink:NamedThing protein localization Any process in which a protein is transported to, or maintained in, a specific location. tmpaxzxjjyw_mondo_relaxed.owl establishment and maintenance of asymmetric protein localization|establishment and maintenance of protein localization|asymmetric protein localization|asymmetric protein localisation|protein localisation owl:Class MONDO:0014581 biolink:NamedThing congenital myasthenic syndrome 2A A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. tmpaxzxjjyw_mondo_relaxed.owl myasthenic syndrome, congenital, slow-channel|CMS IIa|congenital myasthenic syndrome type 2A|myasthenic syndrome, congenital, postsynaptic slow-channel|CMS2A|myasthenic syndrome, congenital, 2A, slow-channel|slow channel congenital myasthenic syndrome|congenital myasthenic syndrome 2A slow-channel|myasthenic syndrome, congenital, type IIa|SCCMS UMLS:C4225374|OMIM:616313|GARD:0009895|Orphanet:590|DOID:0110681 owl:Class MONDO:0007404 biolink:NamedThing Cri-du-chat syndrome Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl 5p- syndrome|5p minus syndrome|chromosome 5 short arm deletion syndrome|Cat Cry syndrome|Cri du chat syndrome|Cat-Cry syndrome|deletion 5p|chromosome 5p deletion syndrome|chromosome 5P deletion syndrome|chromosome 5p- syndrome|5p partial monosomy syndrome|5p deletion syndrome|monosomy type 5p|Cri-du-chat syndrome|monosomy 5p ICD9:758.39|MESH:D003410|NCIT:C34518|ICD9:758.31|UMLS:CN776901|GARD:0006213|OMIM:123450|UMLS:C0010314|MedDRA:10011385|Orphanet:281|ICD10:Q93.4|SCTID:70173007|DOID:12580 owl:Class HGNC:26158 biolink:NamedThing ELMOD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032753 biolink:NamedThing spastic ataxia 9, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE|SPAX9 OMIM:618438 owl:Class MONDO:0004951 biolink:NamedThing susceptibility to HIV infection The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte. tmpaxzxjjyw_mondo_relaxed.owl HIV-1, resistance to|human immunodeficiency virus type 1, susceptibility to|acquired immunodeficiency syndrome, progression to|HIV-1, susceptibility to|human immunodeficiency virus type 1, resistance to|AIDS, progression to UMLS:CN282826|NCIT:C14220|OMIM:609423 owl:Class MONDO:0014504 biolink:NamedThing Perrault syndrome 5 Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene. tmpaxzxjjyw_mondo_relaxed.owl Perrault syndrome type 5|Perrault syndrome 5|PRLTS5|TWNK Perrault syndrome|Perrault syndrome caused by mutation in TWNK OMIM:616138|Orphanet:2855|UMLS:C4015307 owl:Class UBERON:0007223 biolink:NamedThing osseus cochlea tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:24867 biolink:NamedThing monoatomic ion tmpaxzxjjyw_mondo_relaxed.owl monoatomic ions owl:Class OBO:MF_0000074 biolink:NamedThing bodily quality A bodily quality is a quality that inheres in some extended organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class BFO:0000019 biolink:NamedThing quality tmpaxzxjjyw_mondo_relaxed.owl Quality quality a quality is a specifically dependent continuant that, in contrast to roles and dispositions, does not require any further process in order to be realized. (axiom label in BFO2 Reference: [055-001]) the mass of this piece of gold.|the color of a tomato|the length of the circumference of your waist|the shape of your nose|the ambient temperature of this portion of air|the shape of your nostril (forall (x) (if (exists (t) (and (existsAt x t) (Quality x))) (forall (t_1) (if (existsAt x t_1) (Quality x))))) // axiom label in BFO2 CLIF: [105-001] |(forall (x) (if (Quality x) (SpecificallyDependentContinuant x))) // axiom label in BFO2 CLIF: [055-001] If an entity is a quality at any time that it exists, then it is a quality at every time that it exists. (axiom label in BFO2 Reference: [105-001]) owl:Class MONDO:0009091 biolink:NamedThing non-acquired combined pituitary hormone deficiency with spine abnormalities Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. tmpaxzxjjyw_mondo_relaxed.owl pituitary hormone deficiency, combined, type 3|Winkelmann-Bethge-Pfeiffer syndrome|non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome|pituitary hormone deficiency, combined, with rigid cervical spine|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|non-acquired combined pituitary hormone deficiency with spine abnormalities|Deafness, sensorineural with pituitary dwarfism|Pituitary hormone deficiency, combined with rigid cervical spine|pituitary hormone deficiency, combined, 3|deafness, sensorineural, with pituitary dwarfism|CPHD3 UMLS:C3489787|Orphanet:231720|OMIM:221750|MESH:C536710|GARD:0010603 owl:Class HP:0031704 biolink:NamedThing Abnormal ear physiology Any functional anomaly of the ear. tmpaxzxjjyw_mondo_relaxed.owl 2017-12-18 00:20:24+00:00 peter human_phenotype owl:Class HGNC:2638 biolink:NamedThing CYP3A5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008484 biolink:NamedThing sulfuric ester hydrolase activity Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of a sulfuric ester bond, an ester formed from sulfuric acid, O=SO(OH)2. tmpaxzxjjyw_mondo_relaxed.owl sulfatase activity|sulphuric ester hydrolase activity owl:Class GO:0016788 biolink:NamedThing hydrolase activity, acting on ester bonds Catalysis of the hydrolysis of any ester bond. tmpaxzxjjyw_mondo_relaxed.owl esterase activity owl:Class MONDO:0005464 biolink:NamedThing rhegmatogenous retinal detachment Retinal detachment secondary to retinal tear or break. tmpaxzxjjyw_mondo_relaxed.owl EFO:0005240|NCIT:C118755|UMLS:C0271055|SCTID:19620000 owl:Class HGNC:7208 biolink:NamedThing MPDZ tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:16646 biolink:NamedThing carbohydrate Any member of the class of organooxygen compounds that is a polyhydroxy-aldehyde or -ketone or a lactol resulting from their intramolecular condensation (monosaccharides); substances derived from these by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom; and polymeric products arising by intermolecular acetal formation between two or more such molecules (disaccharides, polysaccharides and oligosaccharides). Carbohydrates contain only carbon, hydrogen and oxygen atoms; prior to any oxidation or reduction, most have the empirical formula Cm(H2O)n. Compounds obtained from carbohydrates by substitution, etc., are known as carbohydrate derivatives and may contain other elements. Cyclitols are generally not regarded as carbohydrates. tmpaxzxjjyw_mondo_relaxed.owl carbohidrato|glucide|glucidos|carbohydrates|saccharides|carbohidratos|saccharide|Kohlenhydrat|carbohydrate|saccharidum|glucido|glucides|Kohlenhydrate|hydrates de carbone owl:Class CHEBI:78616 biolink:NamedThing carbohydrates and carbohydrate derivatives Any organooxygen compound that is a polyhydroxy-aldehyde or -ketone, or a compound derived from one. Carbohydrates contain only carbon, hydrogen and oxygen and usually have an empirical formula Cm(H2O)n; carbohydrate derivatives may contain other elements by substitution or condensation. tmpaxzxjjyw_mondo_relaxed.owl carbohydrates and derivatives|carbohydrates and their derivatives owl:Class MONDO:0019505 biolink:NamedThing hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia. tmpaxzxjjyw_mondo_relaxed.owl 4H syndrome OMIM:616494|OMIM:607694|UMLS:CN206304|ICD10:G11.1|Orphanet:88637|OMIM:614381 owl:Class MONDO:0030900 biolink:NamedThing intellectual developmental disorder with paroxysmal dyskinesia or seizures tmpaxzxjjyw_mondo_relaxed.owl IDDPADS OMIM:619150 owl:Class MONDO:0009647 biolink:NamedThing Morquio syndrome C tmpaxzxjjyw_mondo_relaxed.owl Morquio syndrome type C|Morquio syndrome, Nonkeratosulfate-Excreting type|Morquio syndrome C Orphanet:582|MESH:C536247|OMIM:252300 owl:Class GO:1905349 biolink:NamedThing ciliary transition zone assembly The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. tmpaxzxjjyw_mondo_relaxed.owl cilium transition zone formation|cilial transition zone assembly|cilium transition zone assembly|ciliary transition zone formation|cilial transition zone formation owl:Class ENVO:01001620 biolink:NamedThing mass of ice and snow A object which is composed primarily of water-based snow and ice. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001691 biolink:NamedThing mass of compounded environmental materials An mass of environmental materials which has appreciable quantities of several individual materials, such that the removal of one would convert the mass into a different entity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003781 biolink:NamedThing bronchitis An acute or chronic inflammatory process affecting the bronchi. tmpaxzxjjyw_mondo_relaxed.owl CI - chest infection|inflammation of bronchus|bronchial infection|chest infection|acute bronchitis and bronchiolitis|chronic bronchitis|acute bronchitis|chest cold|bronchus inflammation|recurrent wheezy bronchitis ICD10:J20.9|ICD10:J20|UMLS:C0008677|ICD9:490|EFO:0009661|DOID:6132|UMLS:C0006277|ICD9:491|ICD10:J40|CSP:2596-1500|ICD9:466.0|ICD9:491.9|ICD10:J42|SCTID:32398004|NCIT:C2911|NCIT:C26722|MESH:D001991 owl:Class HP:0003107 biolink:NamedThing Abnormal circulating cholesterol concentration Any deviation from the normal concentration of cholesterol in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl Abnormal cholesterol homeostasis|Abnormality of cholesterol metabolism UMLS:C4025656 peter 2008-03-17T01:02:00Z HP:0003464 human_phenotype owl:Class MONDO:0013619 biolink:NamedThing nephrotic syndrome, type 6 Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene. tmpaxzxjjyw_mondo_relaxed.owl PTPRO nephrotic syndrome|NPHS6|nephrotic syndrome, type 6|nephrotic syndrome caused by mutation in PTPRO UMLS:C3280100|DOID:0080384|OMIM:614196 owl:Class HP:0002110 biolink:NamedThing Bronchiectasis Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. tmpaxzxjjyw_mondo_relaxed.owl Permanent enlargement of the airways of the lungs UMLS:C0006267|MSH:D001987|SNOMEDCT_US:12295008 human_phenotype owl:Class HP:0025426 biolink:NamedThing Abnormal bronchus morphology Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the bronchi 2017-04-23 12:50:43+00:00 HPO:probinson HP:0002109 human_phenotype owl:Class MONDO:0054741 biolink:NamedThing combined oxidative phosphorylation deficiency 34 tmpaxzxjjyw_mondo_relaxed.owl COXPD34|combined oxidative phosphorylation deficiency 34 DOID:0111497|OMIM:617872 owl:Class MONDO:0007141 biolink:NamedThing antiviral state repressor, regulator of tmpaxzxjjyw_mondo_relaxed.owl antiviral state repressor, regulator of|AVRR|antiviral STATE repressor, regulator OF 2022-04-01 OMIM:107440 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0023569 biolink:NamedThing Kozlowski Ouvrier syndrome tmpaxzxjjyw_mondo_relaxed.owl agenesis of the corpus callosum with mental retardation and osseous lesions|agenesis of the corpus callosum with intellectual disability and osseous lesions GARD:0003139|MESH:C537508|UMLS:C2931512 https://rarediseases.info.nih.gov/diseases/3139/kozlowski-ouvrier-syndrome owl:Class MONDO:0004449 biolink:NamedThing intraductal breast myoepitheliosis A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells within small breast ducts. tmpaxzxjjyw_mondo_relaxed.owl DOID:8068|NCIT:C40387|UMLS:C1512935 owl:Class MONDO:0006949 biolink:NamedThing retinal drusen Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035312|MedDRA:10062776|EFO:1001155|DOID:2569|ICD9:362.57|MESH:D015593|SCTID:247153005 owl:Class MONDO:0044642 biolink:NamedThing c11orf73-related autosomal recessive hypomyelinating leukodystrophy tmpaxzxjjyw_mondo_relaxed.owl C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy|hypomyelinating leukodystrophy due to hikeshi deficiency Orphanet:495844 owl:Class MONDO:0017715 biolink:NamedThing 3-hydroxyacyl-CoA dehydrogenase deficiency tmpaxzxjjyw_mondo_relaxed.owl OMIM:231530|ICD10:E71.3|Orphanet:309127 owl:Class HGNC:20153 biolink:NamedThing CHD8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005716 biolink:NamedThing contagious pleuropneumonia A pleuropneumonia of cattle and goats caused by species of mycoplasma. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032243|MESH:D011002|EFO:0007221 owl:Class MONDO:0021836 biolink:NamedThing Aksu von Stockhausen syndrome A syndrome characterized by a malformations of the neck due to a branchial arch defect. In the neonatal period the following signs were noted: symmetrical preauricular pits, retroauricular additional rudimentary auricles, a blindly ending coccygeal groove, microstomia and papillomata of the hypopharynx. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl hereditary branchial arch defects|aksu von stockhausen syndrome MESH:C535611|GARD:0000579 https://rarediseases.info.nih.gov/diseases/579/aksu-von-stockhausen-syndrome owl:Class MONDO:0010259 biolink:NamedThing retinitis pigmentosa 24 A retinitis pigmentosa that has material basis in variation in the chromosome region Xq26-q27. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 24|retinitis pigmentosa 24|RP24|RP 24 GARD:0010389|OMIM:300155|ICD10:H35.5|UMLS:C3887982|DOID:0110416 https://rarediseases.info.nih.gov/diseases/10389/retinitis-pigmentosa-24 owl:Class NCBITaxon:33342 biolink:NamedThing Paraneoptera tmpaxzxjjyw_mondo_relaxed.owl hemipteroid assemblage|Hemipteroidea GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:447134 biolink:NamedThing Myodes tmpaxzxjjyw_mondo_relaxed.owl Clethrionomys GC_ID:1 NCBITaxon:13014 ncbi_taxonomy owl:Class UBERON:0012465 biolink:NamedThing lumen of terminal part of digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033480 biolink:NamedThing spinocerebellar ataxia 45 tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia 45|SCA45 DOID:0080287|Orphanet:589527|UMLS:CN623017|OMIM:617769 owl:Class GO:1902098 biolink:NamedThing calcitriol binding Binding to calcitriol. Calcitriol (1,25-dihydroxycholecalciferol) is the hormonally active form of vitamin D3. tmpaxzxjjyw_mondo_relaxed.owl 1alpha,25-dihydroxyvitamin D3 binding|1alpha,25(OH)2 vitamin D3 binding|1alpha,25(OH)2D3 binding|hormonally active vitamin D3 binding|1alpha,25-dihydroxycholecalciferol binding|1,25-dihydroxycholecalciferol binding|1,25-dihydroxyvitamin D3 binding owl:Class MONDO:0010030 biolink:NamedThing Sjogren syndrome An autoimmune disorder in which immune cells attack and destroy the glands that produce tears and saliva. Sjögren syndrome is also associated with rheumatic disorders such as rheumatoid arthritis or systemic lupus erythematosus. The hallmark symptoms of Sjögren syndrome are dry mouth and dry eyes. In addition, Sjogren syndrome may cause skin, nose, and vaginal dryness. It also may affect other organs of the body including the kidneys, blood vessels, lungs, liver, pancreas, and brain tmpaxzxjjyw_mondo_relaxed.owl syndrome, Sjogren's|Sjögren syndrome|primary Sjögren-Gougerot syndrome|Sjogren syndrome|sicca syndrome|Sjogren's syndrome|primary Sjögren syndrome|primary Sjogren-Gougerot syndrome|xerodermosteosis|Sjögren-Gougerot syndrome NCIT:C26883|EFO:0000699|MESH:D012859|Orphanet:378|Orphanet:289390|ICD10:M35.0|ICD9:710.2|DOID:12894|OMIM:270150|GARD:0010252|SCTID:83901003|ICD10:M35.00 Editor note: check for differences with Mik PMID:10845583 owl:Class MONDO:0023865 biolink:NamedThing corneal infection A viral or bacterial infectious process affecting the cornea. Symptoms include pain and redness in the eye, photophobia and eye watering. tmpaxzxjjyw_mondo_relaxed.owl corneal infection|infection of cornea|keratitis caused by infection|infective keratitis Orphanet:519278|UMLS:C0729777|SCTID:312428002|NCIT:C83813 owl:Class HGNC:8624 biolink:NamedThing PAXIP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006845 biolink:NamedThing male genital tuberculosis Mycobacterium infections of the male reproductive tract (genitalia, male). tmpaxzxjjyw_mondo_relaxed.owl genital Tuberculoses, Male|male reproductive system tuberculosis|Male genital Tuberculoses|Tuberculoses, Male genital|male genital tuberculosis|genital tuberculosis, Male MedDRA:10061234|MESH:D014389|EFO:1001030|SCTID:240379005|UMLS:C0041317 owl:Class MONDO:0015501 biolink:NamedThing syndrome or malformation associated with head and neck malformations tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN199635|Orphanet:156237 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0003280 biolink:NamedThing swayback Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed) tmpaxzxjjyw_mondo_relaxed.owl swayback of sheep SCTID:61960001|DOID:5112|MESH:D013540 owl:Class GO:2000848 biolink:NamedThing positive regulation of corticosteroid hormone secretion Any process that activates or increases the frequency, rate or extent of corticosteroid hormone secretion. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of corticosteroid secretion owl:Class MONDO:0004238 biolink:NamedThing petrous apex meningioma A meningioma that affects the petrous apex. tmpaxzxjjyw_mondo_relaxed.owl meningioma of petrous ridge|meningioma of the petrous ridge|meningioma of petrous apex|meningioma of the petrous apex|petrous ridge meningioma NCIT:C5271|UMLS:C1335396|DOID:7482 owl:Class MONDO:0019159 biolink:NamedThing Loeffler endocarditis Loeffler's endocarditis is a rare restrictive cardiomyopathy characterized by hypereosinophilia and fibrous thickening of the endocardium, with usually large thrombi against the ventricle walls, that can lead to cardiovascular complications such as heart failure and thromboembolism. It manifests with symptoms like edema, fatigue and shortness of breath. It is usually secondary to eosinophil-associated tissue damage and is associated with idiopathic hypereosinophilic syndrome, chronic eosinophilic leukemia, carcinoma, or lymphoma. tmpaxzxjjyw_mondo_relaxed.owl eosinophilic endomyocardial disease|eosinophilic endocarditis ICD10:I42.3|SCTID:449829009|MedDRA:10052841|Orphanet:75566|NCIT:C27044|DOID:396 owl:Class MONDO:0010464 biolink:NamedThing X-linked cerebral-cerebellar-coloboma syndrome syndrome X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. tmpaxzxjjyw_mondo_relaxed.owl X-linked intellectual disability, Kroes type|X-linked cerebral-cerebellar-coloboma syndrome|cerebral-cerebellar-coloboma syndrome, X-linked Orphanet:163961|ICD10:Q87.8|OMIM:300864|UMLS:C3275487 owl:Class CHEBI:33892 biolink:NamedThing iron coordination entity tmpaxzxjjyw_mondo_relaxed.owl iron coordination compounds|iron coordination entities|iron coordination entity owl:Class MONDO:0014157 biolink:NamedThing mandibular hypoplasia-deafness-progeroid syndrome tmpaxzxjjyw_mondo_relaxed.owl mandibular hypoplasia, deafness, progeroid features|mandibular hypoplasia-hearing loss-progeroid syndrome|MDPL|mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome|MDP syndrome UMLS:C3715192|ICD10:E34.8|Orphanet:363649|GARD:0010989|OMIM:615381 owl:Class GO:0031340 biolink:NamedThing positive regulation of vesicle fusion Any process that activates or increases the frequency, rate or extent of vesicle fusion. tmpaxzxjjyw_mondo_relaxed.owl upregulation of vesicle fusion|up regulation of vesicle fusion|stimulation of vesicle fusion|activation of vesicle fusion|up-regulation of vesicle fusion owl:Class HGNC:9586 biolink:NamedThing PTCH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6481 biolink:NamedThing LAMA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016016 biolink:NamedThing toluene embryopathy Toluene embryopathy is a neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome. tmpaxzxjjyw_mondo_relaxed.owl toluene embryopathy|microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency|Hersh Podruch Weisskopk syndrome UMLS:C2931737|ICD10:Q86.8|MESH:C538114|Orphanet:1920|GARD:0002672 owl:Class GO:0051355 biolink:NamedThing proprioception involved in equilibrioception The series of events contributing to equilibrioception by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception plays an important role in the ability of an organism to perceive its orientation with respect to gravity. tmpaxzxjjyw_mondo_relaxed.owl perception of orientation with respect to gravity by proprioception|equilibrioception by proprioception|proprioception during equilibrioception owl:Class NCBITaxon:64279 biolink:NamedThing Drosophila C virus tmpaxzxjjyw_mondo_relaxed.owl DCV GC_ID:1 ncbi_taxonomy owl:Class HGNC:25009 biolink:NamedThing UBE2T tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012337 biolink:NamedThing glaucoma 1, open angle, I tmpaxzxjjyw_mondo_relaxed.owl glaucoma 1, open angle, I|GLC1I MESH:C565724|UMLS:C1857852|OMIM:609745 owl:Class NCIT:C15493 biolink:NamedThing Estrogen Receptor Negative tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016964 biolink:NamedThing partial duplication of the long arm of chromosome 14 tmpaxzxjjyw_mondo_relaxed.owl 14q duplication|chromosome 14q duplication|partial duplication of the long arm of chromosome type 14|partial duplication of chromosome 14q|trisomy 14q|partial trisomy of chromosome 14q|partial trisomy of the long arm of chromosome 14|14q trisomy|Duplication 14q|partial trisomy 14q GARD:0005311|Orphanet:262941 owl:Class MONDO:0013672 biolink:NamedThing chromosome 15q25 deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl chromosome 15q25 deletion syndrome DOID:0060396|UMLS:C3280355|OMIM:614294 owl:Class MONDO:0008916 biolink:NamedThing cardiomyopathy associated with myopathy and sudden death tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy associated with myopathy and sudden death OMIM:212130|UMLS:C1859328|MESH:C565881 owl:Class MONDO:0020115 biolink:NamedThing secondary polycythemia Secondary polycythemia is an elevated absolute red blood cell mass caused by enhanced stimulation of red blood cell production by an otherwise normal erythroid lineage that may be congenital or acquired (congenital secondary polycythemia and acquired secondary polycythemia). tmpaxzxjjyw_mondo_relaxed.owl secondary polycythemia|secondary erythrocytosis UMLS:C1318533|NCIT:C27178|MedDRA:10036062|ICD10:D75.1|Orphanet:98428 owl:Class MONDO:0014802 biolink:NamedThing Cowden syndrome 7 Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene. tmpaxzxjjyw_mondo_relaxed.owl SEC23B Cowden disease|Cowden syndrome type 7|Cowden syndrome 7|CWS7|Cowden disease caused by mutation in SEC23B OMIM:616858|UMLS:C4225179 owl:Class MONDO:0007520 biolink:NamedThing ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3. tmpaxzxjjyw_mondo_relaxed.owl EEC|EEC syndrome 1|EEC1|ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 1|ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome type 1 MESH:C565062|DOID:0060784|Orphanet:1896|ICD10:Q82.4|OMIM:129900|UMLS:C0406704 owl:Class MONDO:0043320 biolink:NamedThing piriformis syndrome A condition referring to irritation or compression of the proximal sciatic nerve, secondary to contraction of the piriformis muscle. It results in pain in the hip or the back of the leg mimicking disk-related sciatica. tmpaxzxjjyw_mondo_relaxed.owl muscle syndromes, piriformis|piriformis syndrome|piriformis syndromes|piriformis muscle syndromes|syndrome, piriformis|deep gluteal syndrome|Pseudosciatica|pyriformis syndrome|syndrome, piriformis muscle|pelvic outlet syndrome|muscle syndrome, piriformis|wallet sciatica|syndromes, piriformis muscle|hip socket neuropathy|syndromes, piriformis|piriformis muscle syndrome GARD:0010026|NCIT:C85012|SCTID:129179000|UMLS:C0458224|MESH:D055958 owl:Class MONDO:0015782 biolink:NamedThing dysmorphism-cleft palate-loose skin syndrome Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congential, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (incl. elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:1779|UMLS:CN200364 owl:Class MONDO:0006727 biolink:NamedThing diastolic heart failure Heart failure caused by abnormal myocardial relaxation during diastole leading to defective cardiac filling. tmpaxzxjjyw_mondo_relaxed.owl ICD10:I50.3|SCTID:418304008|ICD9:428.3|MedDRA:10069211|UMLS:C1135196|ICD9:428.30|ICD10:I50.30|EFO:1000899|MESH:D054144|DOID:9775 owl:Class MONDO:0005009 biolink:NamedThing congestive heart failure Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. tmpaxzxjjyw_mondo_relaxed.owl cardiac failure, congestive|CHF|weak heart|failure, congestive heart|congestive heart disease|heart failure, congestive ICD10:I50.0|ICD10:I50.9|ICD9:404.13|ICD9:428.9|DOID:6000|EFO:0000373|MESH:D006333|SCTID:42343007|SCTID:84114007|ICD9:428.0|ICD9:404.11|NCIT:C3080|ICD9:404.01|ICD9:428|ICD10:I50|UMLS:C0018802|NCIT:C50577 owl:Class MONDO:0019422 biolink:NamedThing X-linked intellectual disability, Stevenson type An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:85325|UMLS:CN206178|ICD10:Q87.8|SCTID:718909001 owl:Class MONDO:0001211 biolink:NamedThing total internal ophthalmoplegia tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152197|SCTID:86266009|ICD9:367.52|DOID:11177 owl:Class MONDO:0021765 biolink:NamedThing radiculitis An inflammatory process affecting a nerve root. Patients experience pain radiating along a nerve path because of spinal pressure on the nerve root that connects to the nerve path. tmpaxzxjjyw_mondo_relaxed.owl radiculitis|Inflammation, Nerve Root|Nerve Root Inflammation|Radiculitis|Radiculitides|Nerve Root Inflammations SCTID:82473003|ICD9:729.2|NCIT:C78581|UMLS:C0034544 owl:Class HGNC:17328 biolink:NamedThing DTNBP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003773 biolink:NamedThing intracerebral cystic meningioma A cystic meningioma that grows within the cerebral hemispheres. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334236|NCIT:C5269|DOID:6113 owl:Class MONDO:0011688 biolink:NamedThing muscular dystrophy-dystroglycanopathy type B5 A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5|MDDGB5|FKRP-related congenital muscular dystrophy|muscular dystrophy, congenital, FKRP-related|congenital muscular dystrophy 1C|MDC1C|congenital muscular dystrophy-FKRP related|muscular dystrophy, congenital, 1C|muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 Orphanet:52428|Orphanet:370980|OMIM:606612|Orphanet:370959|DOID:0110635|ICD10:G71.2|UMLS:C1847759|MESH:C564691|Orphanet:370968 owl:Class MONDO:0018262 biolink:NamedThing fetal anticonvulsant syndrome tmpaxzxjjyw_mondo_relaxed.owl fetal AEDS|FACS|fetal antiepileptic drug syndrome UMLS:C1739111|ICD10:Q86.8|Orphanet:370068 owl:Class MONDO:0008896 biolink:NamedThing campomelia, Cumming type Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies. tmpaxzxjjyw_mondo_relaxed.owl cervical lymphocele with bowed long bones|campomelia Cumming type|Cumming syndrome|campomelia, Cumming type|campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys GARD:0001061|MESH:C537966|Orphanet:1318|ICD10:Q87.8|OMIM:211890|SCTID:720599002|UMLS:C1859371 https://rarediseases.info.nih.gov/diseases/1061/campomelia-cumming-type owl:Class NCBITaxon:426455 biolink:NamedThing Rhipicephalus tmpaxzxjjyw_mondo_relaxed.owl Rhipicephalus|Rhipicephalus (Rhipicephalus) GC_ID:1|PMID:14707501 ncbi_taxonomy owl:Class NCBITaxon:34630 biolink:NamedThing Rhipicephalus tmpaxzxjjyw_mondo_relaxed.owl Rhipicephalus GC_ID:1|PMID:14707501 ncbi_taxonomy owl:Class MONDO:0013320 biolink:NamedThing chromosome 16p12.2-p11.2 deletion syndrome 16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl monosomy 16p11.2p12.2|16p11.2p12.2 microdeletion syndrome|chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB|monosomy 16p11.2-p12.2|Del(16)(p11.2p12.2)|16p11.2-p12.2 microdeletion syndrome Orphanet:261211|ICD10:Q93.5|OMIM:613604|UMLS:C3150858|SCTID:719576009|UMLS:C4304597|DOID:0060400 owl:Class MONDO:0009648 biolink:NamedThing peripheral motor neuropathy-dysautonomia syndrome Peripheral motor neuropathy-dysautonomia syndrome is characterised by distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Lisker-Garcia-Ramos syndrome|motor neuropathy, peripheral, with dysautonomia UMLS:C1854961|Orphanet:2400|MESH:C536988|OMIM:252320 owl:Class MONDO:0015343 biolink:NamedThing secondary acute transverse myelitis Secondary acute transverse myelitis (ATM) is characterized by focal inflammation within the spinal cord due to a known cause, usually an inflammatory disease. tmpaxzxjjyw_mondo_relaxed.owl disease-associated transverse myelitis Orphanet:139420|UMLS:CN199396|ICD10:G37.3 owl:Class NCBITaxon:75739 biolink:NamedThing Eucoccidiorida tmpaxzxjjyw_mondo_relaxed.owl Eucoccidiida GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:9963 biolink:NamedThing Caprinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019022 biolink:NamedThing sensorineural hearing loss-early graying-essential tremor syndrome Sensorineural hearing loss-early graying-essential tremor syndrome is characterised by the combination of sensorineural hearing loss, early greying of scalp hair and adult onset essential tremor. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205488|Orphanet:66633 owl:Class HGNC:4651 biolink:NamedThing GTF2E2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005367 biolink:NamedThing hippocampus granule cell layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025431 biolink:NamedThing keratoconjunctivitis, infectious Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is moraxella (moraxella) bovis; in sheep, mycoplasma; rickettsia; chlamydia; or acholeplasma; in goats, rickettsia. tmpaxzxjjyw_mondo_relaxed.owl Keratoconjunctivitides, infectious|infectious Keratoconjunctivitides|infectious keratoconjunctivitis UMLS:C0022576|MESH:D007639 owl:Class MONDO:0020600 biolink:NamedThing acute pharyngitis An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache. tmpaxzxjjyw_mondo_relaxed.owl acute pharyngitis|pharyngitis, acute NCIT:C34355|SCTID:363746003 owl:Class HGNC:6116 biolink:NamedThing IRF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001725 biolink:NamedThing cranial synchondrosis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002215 biolink:NamedThing synchondrosis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004126 biolink:NamedThing trabecular layer of ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018227 biolink:NamedThing pulmonary lymphatic vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16192 biolink:NamedThing SLC17A9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004234 biolink:NamedThing chronic lymphoproliferative disorder of NK-cells An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged. tmpaxzxjjyw_mondo_relaxed.owl CNKL|NK-cell lineage granular lymphocyte proliferative disorder|chronic NK-large granular lymphocyte lymphoproliferative disorder|chronic lymphoproliferative disorder of natural killer cells|NK-LGL leukemia|NK-type lymphoproliferative disorder of granular lymphocytes|chronic NK lymphocytosis|chronic NK-LGL lymphoproliferative disorder|NK-cell large granular lymphocyte lymphocytosis|natural killer-cell large granular lymphocyte leukemia|indolent large granular NK-cell lymphoproliferative disorder|indolent NK-cell lymphoproliferative disorder|chronic lymphoproliferative disorder of NK-cells|chronic NK-cell lymphocytosis|CLPD-NK|NK-LGLL ICDO:9831/3|UMLS:C1512709|DOID:7465|NCIT:C39591|Orphanet:512017|SCTID:722955006 owl:Class CL:0008024 biolink:NamedThing pancreatic endocrine cell An endocrine cell that is part of the pancreas. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0006900 biolink:NamedThing perinephritis Inflammation of the connective and adipose tissues surrounding the kidney. tmpaxzxjjyw_mondo_relaxed.owl perirenal fat inflammation|inflammation of perirenal fat SCTID:111404004|DOID:2982|UMLS:C0031065|EFO:1001099|MedDRA:10072058|MESH:D010501 owl:Class SO:0001268 biolink:NamedThing snRNA_gene A gene that encodes a small nuclear RNA. tmpaxzxjjyw_mondo_relaxed.owl small nuclear RNA gene|snRNA gene owl:Class MONDO:0700107 biolink:NamedThing chromosome 19q13.11 deletion syndrome, distal Chromosome 19q13.11 deletion syndrome in which the distal region was deleted. tmpaxzxjjyw_mondo_relaxed.owl OMIM:613026 http://orcid.org/0000-0002-4142-7153 owl:Class HP:0030791 biolink:NamedThing Abnormal jaw morphology A structural anomaly of the jaw, the bony structure of the mouth that consists of the mandible and the maxilla. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4280767 human_phenotype owl:Class HP:0011821 biolink:NamedThing Abnormality of facial skeleton An abnormality of one or more of the set of bones that make up the facial skeleton. tmpaxzxjjyw_mondo_relaxed.owl Malformation of facial skeleton|Anomaly of facial skeleton|Deformity of the facial bones|Abnormality of facial bones|Anomaly of facial bones|Abnormality of facial skeleton|Malformation of facial bones|Deformity of facial skeleton UMLS:C2315229|SNOMEDCT_US:433096001 The facial skeleton comprises the mandible, maxilla, frontal bone, nasal bones, and zygoma, as well as the inferior nasal concha, the lacrimal bones, the palatine bone, and the vomer. peter 2012-04-29T04:37:30Z human_phenotype owl:Class MONDO:0017147 biolink:NamedThing idiopathic pulmonary arterial hypertension Idiopathic pulmonary arterial hypertension (IPAH) is a sporadic form of pulmonary arterial hypertension (PAH) characterized by elevated pulmonary arterial resistance leading to right heart failure. IPAH is progressive and potentially fatal and not associated with an underlying condition or family history of PAH. tmpaxzxjjyw_mondo_relaxed.owl IPAH|primary pulmonary arterial hypertension UMLS:C3203102|MedDRA:10065151|Orphanet:275766|UMLS:CN202574|ICD9:416.0|ICD10:I27.0|SCTID:697898008 owl:Class MONDO:0008347 biolink:NamedThing idiopathic and/or familial pulmonary arterial hypertension Idiopathic and/or familial pulmonary arterial hypertension (IFPAH) is a form or pulmonary arterial hypertension (PAH, see his term) characterized by elevated pulmonary arterial resistance leading to right heart failure; it is progressive and potentially fatal. About 75% of heritable pulmonary arterial hypertension (HPAH) have an identified mutation. HPAH has been linked to mutations in BMPR2 in 75% of cases; other genes implicated in HPAH include ACVR1, BMPR1, CAV1, ENG and SMAD9 and CBLN2. (However, the majority of patients carrying an HPAH mutation do not develop PAH). Idiopathic pulmonary arterial hypertension (IFPAH) refers to those cases of pulmonary arterial hypertension in which etiology remains unknown. tmpaxzxjjyw_mondo_relaxed.owl pulmonary hypertension, primary, type 1|IFPAH|idiopathic and/or familial pulmonary arterial hypertension|pulmonary hypertension, primary, 1|PPH1 OMIM:615344|Orphanet:422|ICD10:I27.0|OMIM:615343|OMIM:615342|OMIM:178600|UMLS:CN205068|OMIM:265400 owl:Class MONDO:0008902 biolink:NamedThing camptodactyly-ichthyosis syndrome tmpaxzxjjyw_mondo_relaxed.owl camptodactyly ichthyosis syndrome|camptodactyly-ichthyosis syndrome GARD:0010134|MESH:C537976|OMIM:211965|UMLS:C1859355 https://rarediseases.info.nih.gov/diseases/10134/camptodactyly-ichthyosis-syndrome owl:Class ENVO:01001288 biolink:NamedThing kaolin dust Dust which is primarily composed of kaolinite particles. tmpaxzxjjyw_mondo_relaxed.owl kaolinite dust owl:Class MONDO:0001896 biolink:NamedThing obstructive hydrocephalus An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of an obstruction at any location within the ventricular system that prevents cerebrospinal fluid flowing into the subarachnoid space. tmpaxzxjjyw_mondo_relaxed.owl non-communicating hydrocephalus UMLS:C0549423|ICD9:331.4|SCTID:230746009|DOID:14159|NCIT:C116347|ICD10:G91.1|MESH:D006849 owl:Class MONDO:0018349 biolink:NamedThing MAN1B1-CDG MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3). tmpaxzxjjyw_mondo_relaxed.owl intellectual disability-truncal obesity syndrome|carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency|MAN1B1-CDG|congenital disorder of glycosylation type 2 due to MAN1B1 deficiency|congenital disorder of glycosylation type II due to MAN1B1 deficiency GARD:0012417|UMLS:C4518783|SCTID:733450008|ICD10:E77.8|Orphanet:397941 https://rarediseases.info.nih.gov/diseases/12417/man1b1-cdg owl:Class MONDO:0015752 biolink:NamedThing intellectual disability-cataracts-kyphosis syndrome This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226733|Orphanet:171860 owl:Class MONDO:0017668 biolink:NamedThing intellectual disability-short stature-hypertelorism syndrome Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability affecting males characterized by short stature, mild to moderate intellectual deficits, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia present only until the age of 2. There have been no further descriptions in the literature since the original article in 1991 and it has been suggested that this condition represents an example of FG syndrome. tmpaxzxjjyw_mondo_relaxed.owl Stoll-GC)raudel-Chauvin syndrome|intellectual deficit - short stature - hypertelorism|intellectual disability short stature hypertelorism|Stoll-Géraudel-Chauvin syndrome|mental retardation short stature hypertelorism ICD10:Q87.8|Orphanet:3074|UMLS:CN203552|GARD:0003514 https://rarediseases.info.nih.gov/diseases/3514/intellectual-deficit---short-stature---hypertelorism owl:Class MONDO:0001711 biolink:NamedThing hepatic encephalopathy Hepatic encephalopathy is a syndrome observed in some patients with cirrhosis. It is defined as a spectrum of neuropsychiatric abnormalities in patients with liver dysfunction, when other known brain disease has been excluded.Signs and symptomsmay be debilitating, and they can begin mildly and gradually, or occur suddenly and severely. They may includepersonality or moodchanges, intellectual impairment, abnormal movements,a depressed level of consciousness, and other symptoms.There are several theories regarding the exact cause, butdevelopment of the condition isprobablyat least partiallydue to the effect of substances that are toxic to nerve tissue (neurotoxic), which are typically present with liver damage and/or liver disease. Treatment depends upon the severity of mental status changes and upon the certainty of the diagnosis. tmpaxzxjjyw_mondo_relaxed.owl encephalopathy, hepatic|Hepatoencephalopathy|portal-systemic encephalopathy DOID:13413|NCIT:C79596|MESH:D006501|ICD10:K72|GARD:0010452|ICD9:572.2|UMLS:C0019151|SCTID:13920009 https://rarediseases.info.nih.gov/diseases/10452/hepatic-encephalopathy owl:Class MONDO:0013652 biolink:NamedThing narcolepsy 7 Any narcolepsy in which the cause of the disease is a mutation in the MOG gene. tmpaxzxjjyw_mondo_relaxed.owl narcolepsy type 7|narcolepsy 7|MOG narcolepsy|NRCLP7|narcolepsy caused by mutation in MOG Orphanet:2073|OMIM:614250|UMLS:C3280266 owl:Class MONDO:0019029 biolink:NamedThing segmental odontomaxillary dysplasia Segmental odontomaxillary dysplasia (SOD) is a rare disorder characterized by unilateral enlargement of the right or left maxillary alveolar bone and gingiva in the region from the back of the canines to the maxillary tuberosity. In the enlarged region, dental abnormalities such as missing teeth, abnormal spacing and delayed eruption occur. tmpaxzxjjyw_mondo_relaxed.owl SOD Orphanet:67039|ICD9:524.89|ICD10:K00.4|SCTID:699756005 owl:Class CHEBI:36333 biolink:NamedThing local anaesthetic Any member of a group of drugs that reversibly inhibit the propagation of signals along nerves. Wide variations in potency, stability, toxicity, water-solubility and duration of action determine the route used for administration, e.g. topical, intravenous, epidural or spinal block. tmpaxzxjjyw_mondo_relaxed.owl anesthesique local|Lokalanaesthetikum|local anaesthetics|local anesthetics|local anaesthetic owl:Class MONDO:0009946 biolink:NamedThing hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported. tmpaxzxjjyw_mondo_relaxed.owl hemolytic Anemia due to Umph1 deficiency|UMPH1 deficiency|Umph1 deficiency|P5N deficiency|hemolytic Anemia due to P5N deficiency|pyrimidine 5-prime Nucleotidase deficiency, hemolytic Anemia due to|uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to|uridine 5'-monophosphate hydrolase deficiency MESH:C564859|ICD10:D55.3|UMLS:C1849507|Orphanet:35120|OMIM:266120 owl:Class MONDO:0004219 biolink:NamedThing polyvesicular vitelline pattern testicular yolk sac tumor A yolk sac tumor that arises from the testis and is characterized by the presence of collections of vesicles that are surrounded by connective tissue. tmpaxzxjjyw_mondo_relaxed.owl testicular yolk Sac tumor, polyvesicular vitelline pattern NCIT:C39930|UMLS:C1515311|DOID:7435 owl:Class CL:0009018 biolink:NamedThing lymphocyte of large intestine lamina propria A lymphocyte that resides in the lamina propria of the large intestine. tmpaxzxjjyw_mondo_relaxed.owl lamina propria lymphocyte of large intestine owl:Class UBERON:0003424 biolink:NamedThing mesenchyme of hard palate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004963 biolink:NamedThing T-cell acute lymphoblastic leukemia Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl acute T cell leukemia|T-cell acute lymphoblastic leukemia|acute T cell lymphocytic leukemia|acute T-cell lymphoblastic leukemia|T-cell acute lymphocytic leukemia|precursor T-lymphoblastic leukemia|T-ALL|T-cell ALL|T acute lymphoblastic leukemia|acute T-cell leukemia|precursor T-lymphoblastic leukemia (T-cell ALL)|acute T cell lymphoblastic leukemia|T-cell type acute leukemia|acute T-cell lymphocytic leukemia ICDO:9837/3|DOID:0050523|EFO:0000209|DOID:5603|NCIT:C3183|HGNC:5056 owl:Class HGNC:7421 biolink:NamedThing MT-CO2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018991 biolink:NamedThing hepatoportal sclerosis Hepatoportal sclerosis (HPS) is a rare disorder characterized by sclerosis of the intrahepatic portal veins, non-cirrhotic portal hypertension, asymptomatic splenomegaly and recurrent variceal bleeding. tmpaxzxjjyw_mondo_relaxed.owl obliterative portal venopathy ICD10:K74.1|Orphanet:64743|SCTID:718096004|UMLS:C4273756 owl:Class NCIT:C15492 biolink:NamedThing Estrogen Receptor Positive tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0102175 biolink:NamedThing 3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity Catalysis of the reaction: a 3beta-hydroxysteroid-4alpha-carboxylate + NAD(+) = a 3-oxosteroid + CO2 + NADH. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001187 biolink:NamedThing testicular artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009104 biolink:NamedThing Donnai-Barrow syndrome Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common. tmpaxzxjjyw_mondo_relaxed.owl facio-oculo-acoustico-renal syndrome|diaphragmatic hernia-hypertelorism-myopia-deafness syndrome|syndrome of ocular and facial anomalies, telecanthus and deafness|Donnai-Barrow syndrome|DBS/FOAR syndrome|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria|Holmes-Schepens syndrome|diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria|faciooculoacousticorenal syndrome|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|diaphragmatic hernia-exomphalos-hypertelorism syndrome|FOAR syndrome ICD9:759.89|GARD:0001899|UMLS:C1857277|GARD:1899|Orphanet:2143|ICD10:Q87.8|MESH:C536390|DOID:0090144|SCTID:702418009|OMIM:222448 https://rarediseases.info.nih.gov/diseases/1899/donnai-barrow-syndrome owl:Class MONDO:0001992 biolink:NamedThing rete testis adenocarcinoma A carcinoma that arises from glandular epithelial cells of the rete testis tmpaxzxjjyw_mondo_relaxed.owl rete testis adenocarcinoma|adenocarcinoma of rete testis|adenocarcinoma of the rete testis|carcinoma, rete testis, malignant UMLS:C0863024|DOID:14544|NCIT:C8955 owl:Class HGNC:23094 biolink:NamedThing SLC16A12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054669 biolink:NamedThing pontocerebellar hypoplasia, type 11 tmpaxzxjjyw_mondo_relaxed.owl pontocerebellar hypoplasia, type 11|PCH11 OMIM:617695 owl:Class MONDO:0008095 biolink:NamedThing nevus anemicus A capillary vascular anomaly that is characterized by hypopigmented macules. tmpaxzxjjyw_mondo_relaxed.owl anemicus Nevus|NEVUS anemicus|Nevus anemicus|nevus anemicus (disease) nevus anemicus (disease) SCTID:40929003|HP:0025105|OMIM:163050|ICD9:709.09|NCIT:C3943 owl:Class MONDO:0004233 biolink:NamedThing childhood pleomorphic rhabdomyosarcoma A rare aggressive rhabdomyosarcoma occurring in children. The neoplasm is characterized by the presence of bizarre round, spindle, and polygonal cells. tmpaxzxjjyw_mondo_relaxed.owl Pleomorphic rhabdomyosarcoma|pediatric pleomorphic rhabdomyosarcoma|pleomorphic rhabdomyosarcoma of childhood|childhood anaplastic rhabdomyosarcoma|pleomorphic childhood rhabdomyosarcoma UMLS:C0279614|DOID:7463|NCIT:C7959 owl:Class MONDO:0002675 biolink:NamedThing neurofibrosarcoma A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with neurofibromatosis 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72) tmpaxzxjjyw_mondo_relaxed.owl neurosarcoma|neurosarcoma [obs] MESH:D018319|GARD:0008211|DOID:3512 owl:Class NCBITaxon:2731360 biolink:NamedThing Heunggongvirae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2731341 biolink:NamedThing Duplodnaviria tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0046434 biolink:NamedThing organophosphate catabolic process The chemical reactions and pathways resulting in the breakdown of organophosphates, any phosphate-containing organic compound. tmpaxzxjjyw_mondo_relaxed.owl organophosphate breakdown|organophosphate catabolism|organophosphate degradation owl:Class GO:0051984 biolink:NamedThing positive regulation of chromosome segregation Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of chromosome segregation|stimulation of chromosome segregation|up regulation of chromosome segregation|activation of chromosome segregation|upregulation of chromosome segregation owl:Class HGNC:663 biolink:NamedThing ARG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001145 biolink:NamedThing microbial food product A food product derived from one or more microorganisms including bacteria, mold, and yeast. tmpaxzxjjyw_mondo_relaxed.owl Damion Dooley owl:Class FOODON:00002381 biolink:NamedThing food product by organism A food product consisting of food material derived primarily from a single organism. tmpaxzxjjyw_mondo_relaxed.owl Damion Dooley owl:Class GO:0061007 biolink:NamedThing hepaticobiliary system process An system process carried out by any of the organs or tissues of the hepaticobiliary system. The hepaticobiliary system is responsible for metabolic and catabolic processing of small molecules absorbed from the blood or gut, hormones and serum proteins, detoxification, storage of glycogen, triglycerides, metals and lipid soluble vitamins and excretion of bile. Included are the synthesis of albumin, blood coagulation factors, complement, and specific binding proteins. tmpaxzxjjyw_mondo_relaxed.owl hepatobiliary system process owl:Class MONDO:0009554 biolink:NamedThing 3MC syndrome 3 Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene. tmpaxzxjjyw_mondo_relaxed.owl 3MC syndrome type 3|Malpuech Facial clefting syndrome|COLEC10 3MC syndrome|3Mc syndrome type 3|3MC syndrome caused by mutation in COLEC10|Malpuech Facial clefting syndrome, formerly|3MC3|3MC syndrome 3|facial clefting syndrome, Gypsy type Orphanet:2453|MESH:C535704|OMIM:248340|DOID:0060577|Orphanet:293843|UMLS:C0796032 owl:Class GO:0044297 biolink:NamedThing cell body The portion of a cell bearing surface projections such as axons, dendrites, cilia, or flagella that includes the nucleus, but excludes all cell projections. tmpaxzxjjyw_mondo_relaxed.owl cell soma owl:Class MONDO:0007368 biolink:NamedThing familial benign copper deficiency Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982. tmpaxzxjjyw_mondo_relaxed.owl familial benign hypocupremia|copper deficiency, familial benign UMLS:C1852576|MESH:C535468|GARD:0001522|OMIM:121270|SCTID:763531001|ICD10:E83.0|Orphanet:1551 https://rarediseases.info.nih.gov/diseases/1522/copper-deficiency-familial-benign owl:Class MONDO:0002440 biolink:NamedThing erythropoietin polycythemia Polycythemia that is caused by excess erythropoietin. tmpaxzxjjyw_mondo_relaxed.owl polycythemia, nephrogenous|polycythemia due to excess erythopoetin production|nephrogenous polycythemia|polycythaemia due to Excess erythropoetin production|secondary polycythemia with excess erythropoietin NCIT:C35434|UMLS:C0391869|ICD10:D75.1|SCTID:367328005|DOID:2839 owl:Class MONDO:0005434 biolink:NamedThing skin sensitivity to sun The response of human skin to sun exposure. tmpaxzxjjyw_mondo_relaxed.owl EFO:0004795 Editor note: TODO https://github.com/EnvironmentOntology/envo/issues/587 owl:Class MONDO:0010141 biolink:NamedThing tiglic acidemia tmpaxzxjjyw_mondo_relaxed.owl disorder of isoleucine metabolism|tiglic acidemia OMIM:275190|ICD9:270.8|UMLS:C1848793|GARD:0009958|MESH:C536921|SCTID:444755001 https://rarediseases.info.nih.gov/diseases/9958/tiglic-acidemia owl:Class MONDO:0022897 biolink:NamedThing craniosynostosis exostoses nevus epibulbar dermoid tmpaxzxjjyw_mondo_relaxed.owl GARD:0001593 https://rarediseases.info.nih.gov/diseases/1593/craniosynostosis-exostoses-nevus-epibulbar-dermoid owl:Class MONDO:0014211 biolink:NamedThing primary ciliary dyskinesia 26 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene. tmpaxzxjjyw_mondo_relaxed.owl ciliary dyskinesia, primary, 26, with or without situs inversus|ciliary dyskinesia, primary, 26|primary ciliary dyskinesia caused by mutation in CFAP298|primary ciliary dyskinesia 26 with or without situs inversus|CILD26|primary ciliary dyskinesia type 26|CFAP298 primary ciliary dyskinesia|ciliary dyskinesia, primary, type 26 DOID:0110627|OMIM:615500|ICD10:Q34.8|UMLS:C3809684 owl:Class HGNC:11427 biolink:NamedThing STUB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016650 biolink:NamedThing paternal uniparental disomy of chromosome 1 Paternal uniparental disomy of chromosome 1 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. tmpaxzxjjyw_mondo_relaxed.owl paternal uniparental disomy of chromosome type 1|UPD(1)pat SCTID:766719006|Orphanet:251004|ICD10:Q99.8 owl:Class ENVO:01001683 biolink:NamedThing gaseous surface layer A fluid surface layer which is composed primarily of some gaseous material. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016510 biolink:NamedThing epithelium of male urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012788 biolink:NamedThing coronary heart disease, susceptibility to, 9 tmpaxzxjjyw_mondo_relaxed.owl coronary heart disease, susceptibility to, 9|CHDS9 OMIM:612030 owl:Class MONDO:0012159 biolink:NamedThing lung cancer susceptibility 1 tmpaxzxjjyw_mondo_relaxed.owl LNCR1|lung cancer susceptibility 1 UMLS:C1837089|OMIM:608935 owl:Class PATO:0001400 biolink:NamedThing unipotent A cellular potency that is the capacity to produce only one differentiated cell type. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011368 biolink:NamedThing Epidermal thickening Thickening of the epidermal layer of the skin. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of keratinization UMLS:C0494876|UMLS:C4020752 peter 2012-03-03T12:25:18Z HP:0001035 human_phenotype owl:Class HP:0001072 biolink:NamedThing Thickened skin Laminar thickening of skin. tmpaxzxjjyw_mondo_relaxed.owl Thick skin|Thickened skin|Diffusely thickened skin|Pachydermia UMLS:C0334008|SNOMEDCT_US:69943009|UMLS:C4020878|MEDDRA:10040936|SNOMEDCT_US:17417006 HP:0007393 human_phenotype owl:Class MONDO:0001971 biolink:NamedThing farmer's lung disease Hypersensitivity pneumonitis caused by the repeated exposure and inhalation of biological dust (such as hay dust, mold spores, or other agricultural products). It is considered a type II hypersensitivity inflammatory reaction. In the acute phase, signs and symptoms include fever, chills, cough, dyspnea, headache, and chest tightness. The subacute phase manifests as chronic cough, dyspnea, anorexia, and weight loss. The chronic phase results from the prolonged exposure to the antigen and is characterized by severe dyspnea and irreversible damage to the lungs. tmpaxzxjjyw_mondo_relaxed.owl farmer lung|Farmers lung|farmer's lung NCIT:C34605|ICD9:495.0|ICD10:J67.0|SCTID:18690003|UMLS:C0015634|GARD:0006427|MedDRA:10016221|DOID:14453|Orphanet:99906 https://rarediseases.info.nih.gov/diseases/6427/farmers-lung owl:Class HGNC:2383 biolink:NamedThing CRX tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3767 biolink:NamedThing FLT4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016645 biolink:NamedThing oxidoreductase activity, acting on the CH-NH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase activity, acting on the CH-NH group of donors, other acceptors owl:Class MONDO:0012927 biolink:NamedThing chromosome 1q41-q42 deletion syndrome 1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease. tmpaxzxjjyw_mondo_relaxed.owl 1q41-q42 deletion syndrome|monosomy 1q41q42|deletion 1q41-q42|1q41-q42 microdeletion syndrome|1q41q42 microdeletion syndrome|holoprosencephaly 10|Del(1)(q41q42)|chromosome 1q41-q42 deletion syndrome|monosomy 1q41-q42 Orphanet:250999|SCTID:716515000|UMLS:C2675857|OMIM:612530|UMLS:C4274528|Orphanet:2162|DOID:0060412|ICD10:Q93.5|GARD:0003738 https://rarediseases.info.nih.gov/diseases/3738/chromosome-1q41-q42-deletion-syndrome owl:Class MONDO:0012624 biolink:NamedThing acyl-CoA dehydrogenase 9 deficiency A rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial complex I deficiency due to ACAD9 deficiency|ACAD9 deficiency|acyl-CoA dehydrogenase 9 deficiency UMLS:C1970173|OMIM:611126|ICD10:E71.3|MESH:C567006|SCTID:725046003|Orphanet:99901 owl:Class MONDO:0033621 biolink:NamedThing spinal muscular atrophy, infantile, James type tmpaxzxjjyw_mondo_relaxed.owl SMAJI OMIM:619042 owl:Class SO:0000460 biolink:NamedThing vertebrate_immunoglobulin_T_cell_receptor_segment Germline genomic DNA with the sequence for a V, D, C, or J portion of an immunoglobulin/T-cell receptor. tmpaxzxjjyw_mondo_relaxed.owl vertebrate immunoglobulin T cell receptor segment|vertebrate_immunoglobulin/T-cell receptor gene owl:Class MONDO:0001064 biolink:NamedThing acute eustachian salpingitis Acute form of otosalpingitis. tmpaxzxjjyw_mondo_relaxed.owl acute eustachian tube salpingitis|acute otosalpingitis|otosalpingitis, acute ICD9:381.51|DOID:10550|ICD10:H68.019|SCTID:194268005|UMLS:C0155429|ICD10:H68.01 owl:Class MONDO:0010224 biolink:NamedThing corpus callosum agenesis-abnormal genitalia syndrome Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed. tmpaxzxjjyw_mondo_relaxed.owl ACC-abnormal genitalia syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|Proud Levine Carpenter syndrome|New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum|Proud syndrome|ACC with abnormal genitalia|corpus callosum, agenesis of, with abnormal genitalia|Proud-Levine-Carpenter syndrome Orphanet:2508|GARD:0004528|UMLS:C0796124|SCTID:763797003|MESH:C563110|OMIM:300004|ICD10:Q87.8 owl:Class MONDO:0023655 biolink:NamedThing immunodeficiency 14b, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl IMD14B OMIM:619281 owl:Class MONDO:0021032 biolink:NamedThing herpes zoster with dermatitis of eyelid A form of herpes zoster infection characterized by dermatitis of the skin of the eyelid due to reactivation of latent virus associated with the ophthalmic branch of the trigeminal nerve. tmpaxzxjjyw_mondo_relaxed.owl Herpes zoster dermatitis of eyelids|herpes zoster dermatitis of eyelid|herpes zoster with dermatitis of eyelid|Herpes Zoster Dermatitis of Eyelid|Herpes zoster with dermatitis of eyelid|herpes zoster dermatitis of eyelids UMLS:C0019362|ICD9:053.20|NCIT:C34696|SCTID:186525007 owl:Class MONDO:0004299 biolink:NamedThing infiltrating bladder lymphoepithelioma-like carcinoma tmpaxzxjjyw_mondo_relaxed.owl infiltrating bladder lymphoepithelioma-like carcinoma DOID:7600|UMLS:C1512736|EFO:1000302|NCIT:C39821 owl:Class MONDO:0008511 biolink:NamedThing proximal symphalangism Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients. tmpaxzxjjyw_mondo_relaxed.owl vessel’s syndrome|Strasburger-Hawkins-Eldridge syndrome|symphalangism, Cushing type|hereditary absence of the proximal interphalangeal joints|hereditary absence of proximal interphalangeal joints|proximal symphalangism|proximal symphalangism (disease)|Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome|Cushing's symphalangism proximal symphalangism (disease) OMIM:615298|OMIMPS:185800|GARD:0008182|OMIM:185800|HP:0100264|Orphanet:3250|ICD10:Q70.9|DOID:0050788|KEGG:H00484|MESH:C536223|UMLS:C1861385 owl:Class PATO:0001501 biolink:NamedThing immature A quality inhering in a bearer by virtue of the bearer's lacking complete growth, differentiation, or development. tmpaxzxjjyw_mondo_relaxed.owl underdeveloped owl:Class NCBITaxon:6951 biolink:NamedThing Astigmata tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:41440|NCBITaxon:41441|NCBITaxon:41437 ncbi_taxonomy owl:Class GO:0009895 biolink:NamedThing negative regulation of catabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. tmpaxzxjjyw_mondo_relaxed.owl inhibition of catabolic process|down-regulation of catabolic process|negative regulation of degradation|negative regulation of breakdown|negative regulation of catabolism|downregulation of catabolic process|down regulation of catabolic process owl:Class MONDO:0015945 biolink:NamedThing polymalformative genetic syndrome with increased risk of developing cancer Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases. tmpaxzxjjyw_mondo_relaxed.owl PGSIRC 2022-03-01 Orphanet:183422|UMLS:CN200541 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hereditary neoplastic syndrome' MONDO_0015356 owl:Class MONDO:0005183 biolink:NamedThing ovarian cystadenoma A benign ovarian surface epithelial-stromal tumor characterized by the presence of cystic structures lined by serous epithelial cells, mucinous columnar epithelial cells, or endometrial-type well-differentiated cells. tmpaxzxjjyw_mondo_relaxed.owl simple cystoma of ovary|ovary cystadenoma|cystadenoma of the ovary|simple ovarian cystoma|ovarian cystadenoma|cystoma serosum simplex|benign cystadenoma of ovary|simple cystoma of the ovary|benign cystadenoma of the ovary|benign ovarian cystadenoma|cystadenoma of ovary ICD9:620.2|EFO:0002511|DOID:3269|NCIT:C4060|SCTID:198297004|UMLS:C0346169 owl:Class MONDO:0020125 biolink:NamedThing acquired neuromuscular junction disease An instance of neuromuscular junction disease that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired neuromuscular junction disease UMLS:CN207015|Orphanet:98494 owl:Class MONDO:0002204 biolink:NamedThing transient arthritis Arthritis that is not permanent. tmpaxzxjjyw_mondo_relaxed.owl transient arthropathy NCIT:C35761|ICD10:M12.8|DOID:2092|UMLS:C3887596|ICD9:716.4|SCTID:6011000119108|SCTID:66191007|UMLS:C0152083|ICD9:716.40 owl:Class MONDO:0001429 biolink:NamedThing transient arthropathy Arthropathy that is not permanent. tmpaxzxjjyw_mondo_relaxed.owl transient arthropathy involving hand|transient arthropathy involving multiple sites|transient arthropathy involving upper arm|transient arthropathy involving lower leg|transient arthropathy involving shoulder region|transient arthropathy involving pelvic region and thigh|transient arthropathy involving forearm ICD9:716.48|DOID:12084|ICD9:716.40|ICD9:716.41|SCTID:66191007|UMLS:C0152083|NCIT:C35761 owl:Class MONDO:0009161 biolink:NamedThing Ehlers-Danlos syndrome, dermatosparaxis type A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility. tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome type 7C|EDS VIIC|EDS7C|dermatosparaxis EDS|dermatosparaxis Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, dermatosparaxis type|dEDS|EDS 7C|EDSDERMS|Ehlers-Danlos syndrome type 7C (formerly)|dermatosparaxis|Ehlers-Danlos syndrome, type VII, autosomal recessive Orphanet:1901|MESH:C567527|GARD:0002089|ICD10:Q79.6|OMIM:225410|SCTID:55711009 owl:Class GO:1903726 biolink:NamedThing negative regulation of phospholipid metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of phospholipid metabolic process. tmpaxzxjjyw_mondo_relaxed.owl inhibition of phospholipid metabolism|downregulation of phospholipid metabolic process|down-regulation of phospholipid metabolism|down-regulation of phospholipid metabolic process|downregulation of phospholipid metabolism|down regulation of phospholipid metabolism|negative regulation of phospholipid metabolism|inhibition of phospholipid metabolic process|down regulation of phospholipid metabolic process owl:Class MONDO:0008850 biolink:NamedThing Cooper-Jabs syndrome Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl aural atresia-multiple congenital anomalies-intellectual disability syndrome|aural atresia, multiple congenital anomalies, and intellectual disability|aural atresia, multiple congenital anomalies, and mental retardation Orphanet:1488|SCTID:720748007|MESH:C565923|OMIM:209770|ICD10:Q87.8 owl:Class UBERON:0011955 biolink:NamedThing left hepatic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017242 biolink:NamedThing cutaneous collagenous vasculopathy Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias. tmpaxzxjjyw_mondo_relaxed.owl CCV|cutaneus colagenous vasculopathy SCTID:718634003|UMLS:C4305323|Orphanet:280779|GARD:0012428 owl:Class SO:0000159 biolink:NamedThing deletion The point at which one or more contiguous nucleotides were excised. tmpaxzxjjyw_mondo_relaxed.owl nucleotide_deletion|deleted_sequence|nucleotide deletion owl:Class HGNC:14872 biolink:NamedThing ASPN tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002864 biolink:NamedThing regulation of acute inflammatory response to antigenic stimulus Any process that modulates the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000091 biolink:NamedThing human late adulthood stage Adult stage that refers to an adult who is over 45. tmpaxzxjjyw_mondo_relaxed.owl Middle Aged + Aged|45+ years owl:Class MONDO:0008969 biolink:NamedThing cholesterol pneumonia tmpaxzxjjyw_mondo_relaxed.owl cholesterol pneumonia|familiaere cholesterin-Pneumonie SCTID:233728004|MESH:C535937|ICD9:516.8|UMLS:C0549472|OMIM:215030|GARD:0008500 https://rarediseases.info.nih.gov/diseases/8500/cholesterol-pneumonia owl:Class UBERON:0015013 biolink:NamedThing fibula endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002535 biolink:NamedThing verrucous papilloma A benign epithelial neoplasm characterized by a papillary growth pattern, lack of significant cytologic atypia, and a wart-like appearance. tmpaxzxjjyw_mondo_relaxed.owl ICDO:8051/0|UMLS:C0334243|DOID:3177|NCIT:C4101 owl:Class MONDO:0024490 biolink:NamedThing tumor grade X, general grading system tmpaxzxjjyw_mondo_relaxed.owl undetermined grade owl:Class CL:0000149 biolink:NamedThing visual pigment cell tmpaxzxjjyw_mondo_relaxed.owl pigment cell cell owl:Class UBERON:0015593 biolink:NamedThing frontal gyrus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001877 biolink:NamedThing Abnormal erythrocyte morphology Any structural abnormality of erythrocytes (red-blood cells). tmpaxzxjjyw_mondo_relaxed.owl Abnormality of erythrocytes|Abnormality of erythroid lineage cell|Abnormality of red blood cells SNOMEDCT_US:12222001|UMLS:C0391870|UMLS:C4020862 HP:0010973 human_phenotype owl:Class CHEBI:76837 biolink:NamedThing EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitor An EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor that inhibits the action of any oxidoreductase incorporating 2 atoms of oxygen (EC 1.13.11.*). tmpaxzxjjyw_mondo_relaxed.owl EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 O atoms) inhibitors|oxidoreductase acting on single donors and incorporating 2 atoms of oxygen (EC 1.13.11.*) inhibitor|EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 atoms of oxygen) inhibitor|EC 1.13.11.* (oxidoreductase acting on single donors and incorporating 2 atoms of oxygen) inhibitors|oxidoreductase acting on single donors and incorporating 2 atoms of oxygen (EC 1.13.11.*) inhibitors|EC 1.13.11.* inhibitors|EC 1.13.11.* inhibitor owl:Class CHEBI:76740 biolink:NamedThing EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases), EC 1.13.*.*. tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) inhibitors|EC 1.13.* [oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases)] inhibitors|EC 1.13.* inhibitors|EC 1.13.* inhibitor|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) (EC 1.13.*) inhibitor|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) (EC 1.13.*) inhibitors|oxidoreductase acting on single donors with incorporation of molecular oxygen (oxygenases) inhibitor owl:Class MONDO:0004292 biolink:NamedThing supraglottis verrucous carcinoma An exophytic, slow growing, well differentiated and non-metastasizing squamous cell carcinoma with pushing margins that arises from the supraglottic area of the larynx. tmpaxzxjjyw_mondo_relaxed.owl supraglottis verrucous carcinoma|verrucous carcinoma of the supraglottis|supraglottic part of larynx verrucous carcinoma|supraglottic verrucous carcinoma|verrucous carcinoma of supraglottis NCIT:C8191|UMLS:C0280331|DOID:7586 owl:Class GO:0043436 biolink:NamedThing oxoacid metabolic process The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). tmpaxzxjjyw_mondo_relaxed.owl ketoacid metabolism|keto acid metabolism|oxo acid metabolic process|oxoacid metabolism|oxo acid metabolism|keto acid metabolic process|ketoacid metabolic process owl:Class HGNC:9008 biolink:NamedThing PKD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018837 biolink:NamedThing postinfectious vasculitis Vasculitis, characterized by inflammatory lesions in the wall of vessels, may be due to different viruses. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510302|ICD10:I77.6|SCTID:724063005|Orphanet:48435 owl:Class MONDO:0020507 biolink:NamedThing Cree leukoencephalopathy tmpaxzxjjyw_mondo_relaxed.owl OMIM:603896|Orphanet:99854|ICD10:E75.2|UMLS:C1858991 owl:Class UBERON:0018234 biolink:NamedThing stroma of pancreas tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100280 biolink:NamedThing Waldenstrom macroglobulinemia tmpaxzxjjyw_mondo_relaxed.owl Waldenstrom's syndrome|Waldenstrom macroglobulinemia|Waldenstroem's macroglobulinemia|lymphoplasmacytic lymphoma with IgM gammopathy|Waldenstrom's macroglobulinaemia|Waldenström macroglobulinemia|Waldenstrom's macroglobulinemia|macroglobulinemia of Waldenstrom OMIM:610430|OMIMPS:153600|DOID:0060901|Orphanet:33226|ONCOTREE:WM|GARD:0007872|NCIT:C80307|ICD10:C88.0|MESH:D008258|UMLS:C0024419|MedDRA:10047801 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0035133 biolink:NamedThing PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:589905 owl:Class UBERON:0004849 biolink:NamedThing respiratory system venous endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021035 biolink:NamedThing alopecia-intellectual disability syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl alopecia-intellectual disability syndrome 1|APMR1|alopecia-mental retardation syndrome 1|APMR DOID:0080628|UMLS:C1859878|OMIM:203650 owl:Class CHEBI:35294 biolink:NamedThing carbopolycyclic compound A polyclic compound in which all of the ring members are carbon atoms. tmpaxzxjjyw_mondo_relaxed.owl carbopolycyclic compounds owl:Class HGNC:10610 biolink:NamedThing CCL11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7217 biolink:NamedThing MPL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001642 biolink:NamedThing hordeolum externum A hordeolum that results from obstruction and infection of an eyelash follicle and adjacent glands of Zeis or Moll glands. Follicle obstruction may be associated with blepharitis. tmpaxzxjjyw_mondo_relaxed.owl external stye ICD9:373.11|DOID:13134|ICD10:H00.03|ICD10:H00.01|UMLS:C0019919|SCTID:1489008 owl:Class MONDO:0012255 biolink:NamedThing chromosome 18 pericentric inversion tmpaxzxjjyw_mondo_relaxed.owl chromosome 18 pericentric inversion UMLS:C1836305|MESH:C563734|OMIM:609334 owl:Class MONDO:0009537 biolink:NamedThing lymphoid interstitial pneumonia Interstitial pneumonia characterized by the presence of bibasilar pulmonary interstitial infiltrates composed of lymphocytes and plasma cells. It may be associated with autoimmune and lymphoproliferative disorders. Signs and symptoms include fever, cough, and dyspnea. Symptomatic patients may require immunosuppressive treatment. tmpaxzxjjyw_mondo_relaxed.owl diffuse hyperplasia of bronchus-associated lymphoid tissue|LIP|lymphocytic interstitial pneumonia|lymphocytic interstitial pneumonitis|lymphoid interstitial pneumonia|lymphocytic interst. pneumonitis Orphanet:79128|DOID:0050159|ICD10:J84.1|UMLS:C0264511|OMIM:247610|MESH:C562489|NCIT:C27558|SCTID:44274007|MedDRA:10062997|ICD9:516.8|ICD10:J84.2 owl:Class MONDO:0007682 biolink:NamedThing granddad syndrome tmpaxzxjjyw_mondo_relaxed.owl granddad syndrome|Growth retardation, aged facies, normal development, decreased subcutaneous fat, autosomal dominant inheritance OMIM:138920|UMLS:C1841836|MESH:C564211 owl:Class UBERON:0003867 biolink:NamedThing distal phalanx of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011202 biolink:NamedThing urachus epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:26151 biolink:NamedThing piperidines tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018791 biolink:NamedThing Moyomoya angiopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:477768 owl:Class MONDO:0020704 biolink:NamedThing inherited rippling muscle disease Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase. tmpaxzxjjyw_mondo_relaxed.owl RMD|rippling muscle disease OMIM:606072|ICD10:G71.8|Orphanet:97238|OMIM:600332|MedDRA:10069417|GARD:0009164 owl:Class MONDO:0011634 biolink:NamedThing rippling muscle disease A benign myopathy with symptoms and signs of muscular hyperexcitability. The typical finding is electrically silent muscle contractions provoked by mechanical stimuli and stretch tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10069417|ICD9:359.29|ICD10:G71.8|SCTID:709281006 https://rarediseases.info.nih.gov/diseases/9164/rippling-muscle-disease owl:Class MONDO:0016699 biolink:NamedThing myxopapillary ependymoma Myxopapillary ependymoma (MEPN) describes a slow growing ependymoma located almost exclusively in the conus medullaris-cauda equina-filum terminale region of the spinal cord, presenting in all age groups, and manifesting with variable symptoms such as neck pain, vomiting and unsteady gait and metastasis. It has a more aggressive disease course and is seen in the pediatric population. tmpaxzxjjyw_mondo_relaxed.owl ependymoma, benign|myxopapillary ependymoma (morphologic abnormality)|myxopapillary ependymoma NCIT:C3697|DOID:5075|ONCOTREE:MPE|ICDO:9394/1|MESH:D004806|ICD10:D43.2|GARD:0010633|Orphanet:251643|UMLS:C0205769 https://rarediseases.info.nih.gov/diseases/10633/myxopapillary-ependymoma owl:Class MONDO:0000618 biolink:NamedThing Her2-receptor negative breast cancer tmpaxzxjjyw_mondo_relaxed.owl DOID:0060080 Editor note: check why not in NCIT; note also that triple-negative should be classified here owl:Class GO:0009167 biolink:NamedThing purine ribonucleoside monophosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine ribonucleoside monophosphate metabolism owl:Class MONDO:0018718 biolink:NamedThing vascular tumor with associated anomalies tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:458827|UMLS:CN242155 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: vascular neoplasm' MONDO_0024296 owl:Class NCIT:C16152 biolink:NamedThing HER2/Neu Status tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005717 biolink:NamedThing contagious pustular dermatitis An infectious dermatitis of sheep and goats, affecting primarily the muzzle and lips. It is caused by a poxvirus and may be transmitted to humans. tmpaxzxjjyw_mondo_relaxed.owl Orf|ecthyma, Contagious|sheep pox|scabby mouth|thistle disease|ecthyma contagiosum EFO:0007222|UMLS:C0013570|DOID:8771|SCTID:74050005|ICD9:051.2|ICD10:B08.02|MESH:D004474 owl:Class MONDO:0001597 biolink:NamedThing submandibular gland disorder A disease involving the submandibular gland. tmpaxzxjjyw_mondo_relaxed.owl disorder of submandibular gland|submandibular gland disease|disease of submandibular gland|disease or disorder of submandibular gland|submandibular gland disease or disorder DOID:12897|MESH:D013364|UMLS:C0038557 owl:Class MONDO:0005386 biolink:NamedThing peripheral arterial disease A disorder of the arteries supplying the upper and lower extremity and the visceral organs. This includes the mesenteric arteries, the renal arteries and the aorta and excludes cerebrovascular arterial disease. Patients experience cramping and pain usually in the calves and thighs while walking. The symptoms subside with rest. tmpaxzxjjyw_mondo_relaxed.owl pad|peripheral artery disease|peripheral arterial disorder MESH:D058729|SCTID:399957001|ICD9:443.81|NCIT:C84496|DOID:0050830|EFO:0004265 owl:Class MONDO:0017696 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form tmpaxzxjjyw_mondo_relaxed.owl glycogenosis type 4, non progressive hepatic form|glycogenosis type IV, non progressive hepatic form|GSD due to glycogen branching enzyme deficiency, non progressive hepatic form|GSDIV, non progressive hepatic form|GSD type 4, non progressive hepatic form|glycogen storage disease type 4, non progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form|GBE deficiency, non progressive hepatic form|glycogen storage disease type IV, non progressive hepatic form Orphanet:308638|OMIM:232500|ICD10:E74.0|UMLS:CN203595 owl:Class HGNC:10798 biolink:NamedThing SFTPA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008340 biolink:NamedThing congenital ptosis Congenital ptosis is characterized by superior eyelid drop present at birth. tmpaxzxjjyw_mondo_relaxed.owl PTOS1|congenital eyelid ptosis|ptosis, hereditary congenital 1|congenital ptosis (disease)|congenital ptosis congenital ptosis (disease) SCTID:268163008|OMIM:300245|MedDRA:10015996|HP:0007970|MESH:C566737|Orphanet:91411|ICD10:Q10.0|OMIM:178300|DOID:0060261|NCIT:C27049|ICD9:743.61|OMIM:616219 owl:Class MONDO:0013041 biolink:NamedThing atypical hemolytic-uremic syndrome with I factor anomaly tmpaxzxjjyw_mondo_relaxed.owl aHUS with I factor anomaly|AHUS3|hemolytic uremic syndrome, atypical, susceptibility to, 3|aHUS, susceptibility to, 3|atypical HUS with I factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, type 3|susceptibility to atypical hemolytic uremic syndrome 3|D-HUS with I factor anomaly|aHUS3|hemolytic-uremic syndrome without diarrhea with I factor anomaly Orphanet:2134|ICD10:D58.8|OMIM:612923|Orphanet:93580 owl:Class MONDO:0014376 biolink:NamedThing intellectual disability, autosomal dominant 27 tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant non-syndromic intellectual disability 27|CSS9|mental retardation, autosomal dominant 27|intellectual disability, autosomal dominant 27|autosomal dominant mental retardation 27|MRD27|intellectual disability, autosomal dominant type 27|mental retardation, autosomal dominant type 27|autosomal dominant intellectual disability 27|Coffin-Siris syndrome 9 Orphanet:1465|DOID:0070057|UMLS:C4014528|OMIM:615866 owl:Class MONDO:0004401 biolink:NamedThing testis refractory cancer Malignant testicular germ cell tumor that is resistant to treatment. tmpaxzxjjyw_mondo_relaxed.owl refractory cancer of testis|refractory testicular cancer|refractory cancer of the testis|refractory testicular carcinoma|refractory malignant testicular germ cell tumor NCIT:C9077|UMLS:C1377904|DOID:7928 owl:Class MONDO:0032740 biolink:NamedThing hearing loss, autosomal recessive 100 tmpaxzxjjyw_mondo_relaxed.owl DFNB100|deafness, autosomal recessive 100 DOID:0111638|OMIM:618422 owl:Class MONDO:0005945 biolink:NamedThing rhinoscleroma A granulomatous disease caused by klebsiella rhinoscleromatis infection. Despite its name, this disease is not limited to the nose and nasopharynx but may affect any part of the respiratory tract, sometimes with extension to the lip and the skin. tmpaxzxjjyw_mondo_relaxed.owl SCTID:72409005|ICD9:040.1|DOID:11336|MESH:D012226|EFO:0007470|UMLS:C0035468 owl:Class MONDO:0030866 biolink:NamedThing neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities tmpaxzxjjyw_mondo_relaxed.owl NEDCASB OMIM:619121 owl:Class MONDO:0016045 biolink:NamedThing tetragametic chimerism Tetragametic chimerism is a rare, sex chromosome disorder of sex development characterized by the two different haploid sets of maternal and paternal chromosomes and variable phenotype - from normal male or female genitalia, to different degrees of ambiguous genitalia, and often infertility. Also, in the cases of monochorionic dizygotic twins, it can be confined to blood of both twins. tmpaxzxjjyw_mondo_relaxed.owl 46,XX/46,XY chimerism ICD10:Q99.0|Orphanet:199310|UMLS:CN200724 owl:Class CL:0002063 biolink:NamedThing type II pneumocyte A type II pneumocyte is a pneumocyte that modulates the fluid surrounding the alveolar epithelium by secreting and recycling surfactants. This cell type also contributes to tissue repair and can differentiate after injury into a type I pneumocyte. Thicker than squamous alveolar cells, have a rounded apical surface that projects above the level of surrounding epithelium. The free surface is covered by short microvilli. tmpaxzxjjyw_mondo_relaxed.owl great alveolar cell|lung type 2 cell|cuboidal type II cell|AT2|TII|type II alveolar cell|type 2 alveolar epithelial cell|type II alveolar epithelial cell|type II alveolocyte|type 2 pneumocyte|lung type II cell|type 2 alveolocyte|granular pneumocyte|ATII FMA:62501|BTO:0000538 tmeehan 2010-06-24T12:04:13Z cell owl:Class MONDO:0017223 biolink:NamedThing Pelizaeus-Merzbacher disease, transitional form The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD. tmpaxzxjjyw_mondo_relaxed.owl transitional PMD ICD10:E75.2|Orphanet:280224 owl:Class MONDO:0020518 biolink:NamedThing Hashimoto-Pritzker syndrome Hashimoto-Pritzker histiocytosis (HPH) is a variant of Langerhans cell histiocytosis characterized by multiple disseminated skin lesions (firm, red-brown, painless papulo-nodules). tmpaxzxjjyw_mondo_relaxed.owl Hashimoto-Pritzker histiocytosis|congenital Langerhans cell histiocytosis|Hashimoto-Pritzker disease GARD:0002604|UMLS:C1275336|ICD9:277.89|SCTID:404160007|Orphanet:99872|MESH:C535843|ICD10:C96.5 https://rarediseases.info.nih.gov/diseases/2604/hashimoto-pritzker-syndrome owl:Class MONDO:0012999 biolink:NamedThing guanidinoacetate methyltransferase deficiency Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine deficiency syndrome characterized by global developmental delay/intellectual disability (DD/ID), prominent speech delay, autistic/hyperactive behavioral disorders, seizures, and various types of pyramidal and/or extra-pyramidal manifestations. tmpaxzxjjyw_mondo_relaxed.owl cerebral creatine deficiency syndrome type 2|cerebral creatine deficiency syndrome 2|creatine deficiency syndrome due to GAMT deficiency|guanidinoacetate methyltransferase deficiency|CCDS2|disorder of guanidinoacetate N-methyltransferase activity|guanidinoacetate N-methyltransferase activity disease|GAMT deficiency MESH:C537622|UMLS:C0574080|ICD10:E72.8|OMIM:612736|GARD:0002578|ICD9:277.6|DOID:0050799|SCTID:124239003|Orphanet:382 https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency owl:Class MONDO:0003884 biolink:NamedThing lipoma of the rectum A benign adipose tissue neoplasm of the rectum. tmpaxzxjjyw_mondo_relaxed.owl rectum lipoma|rectal lipoma|lipoma of rectum NCIT:C5551|UMLS:C1335684|DOID:6459 owl:Class PATO:0002302 biolink:NamedThing decreased process quality A quality of a process that has a value that is decreased compared to normal or average. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014797 biolink:NamedThing lymphatic malformation 6 tmpaxzxjjyw_mondo_relaxed.owl lymphedema, hereditary, III|lymphedema, hereditary, type III|generalized lymphatic dysplasia of Fotiou|LMPH3|lymphedema, hereditary, 3 UMLS:C4225184|OMIM:616843|EFO:0009153 owl:Class HP:0000842 biolink:NamedThing Hyperinsulinemia An increased concentration of insulin in the blood. tmpaxzxjjyw_mondo_relaxed.owl Elevated insulin level SNOMEDCT_US:83469008|UMLS:C0020459|MSH:D006946 human_phenotype owl:Class HP:0040215 biolink:NamedThing Abnormal circulating insulin level An abnormal concentration of insulin in the blood. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4073161 human_phenotype owl:Class CL:1001319 biolink:NamedThing bladder cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001120 cell owl:Class MONDO:0006577 biolink:NamedThing maxillary sinus cholesteatoma A rare, progressive, non-neoplastic pathologic process that arises from the maxillary sinus mucosal epithelium. It is characterized by the proliferation of keratinizing squamous epithelium and the formation of keratin sheets. It may lead to bone erosion and infections. Surgical removal is the appropriate treatment. tmpaxzxjjyw_mondo_relaxed.owl cholesteatoma (disease) of maxillary sinus|maxillary sinus cholesteatoma (disease) EFO:1000731|UMLS:C1334644|DOID:867|NCIT:C35868 owl:Class MONDO:0032899 biolink:NamedThing neutropenia, severe congenital, 8, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl SCN8|NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT|Shwachman-Diamond Syndrome-Like|Neutropenia, Severe Congenital, 8, Autosomal Dominant, With or Without Pancreatic Dysfunction And/Or Neurologic Abnormalities OMIM:618752 owl:Class HGNC:6816 biolink:NamedThing MAK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100382 biolink:NamedThing acute myeloid leukemia, t(6;9)(p23;q34.1) Any acute myeloid leukemia that has the chromosomal anomaly t(6;9)(p23;q34.1). (A cytogenetic abnormality that refers to the translocation of the short arm (p23) of chromosome 6 and the long arm (q34.1) of chromosome 9. It is associated with DEK/NUP214 fusions, acute myeloid leukemia and myelodysplastic syndromes.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(6;9)(p23;q34)|AML, t(6;9)(p22.3;q34.1)|AML, t(6;9)(p22;q34)|AML, t(6;9)(p23;q34.1) NCIT:C36532|NCIT:C82423 owl:Class GO:0048598 biolink:NamedThing embryonic morphogenesis The process in which anatomical structures are generated and organized during the embryonic phase. The embryonic phase begins with zygote formation. The end of the embryonic phase is organism-specific. For example, it would be at birth for mammals, larval hatching for insects and seed dormancy in plants. tmpaxzxjjyw_mondo_relaxed.owl embryonic anatomical structure morphogenesis owl:Class CL:0005012 biolink:NamedThing multi-ciliated epithelial cell A ciliated epithelial cell with many cilium. tmpaxzxjjyw_mondo_relaxed.owl multiciliated epithelial cell|multi-ciliated cell|MCC|multiciliated cell cell owl:Class MONDO:0003452 biolink:NamedThing cochlear disorder Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph). tmpaxzxjjyw_mondo_relaxed.owl disease of cochlea|disorder of cochlea|cochlea disease or disorder|disease or disorder of cochlea|cochlea disease UMLS:C0009197|MESH:D015834|DOID:5463 owl:Class GO:0004030 biolink:NamedThing aldehyde dehydrogenase [NAD(P)+] activity Catalysis of the reaction: an aldehyde + NAD(P)+ + H2O = an acid + NAD(P)H + H+. tmpaxzxjjyw_mondo_relaxed.owl ALDH|aldehyde:NAD(P)+ oxidoreductase activity owl:Class MONDO:0100461 biolink:NamedThing gastrointestinal defects and immunodeficiency syndrome A rare genetic disease characterized by multiple intestinal atresia in association with combined immunodeficiency and inflammatory bowel disease. Clinical features include widespread atresia extending from the stomach to the rectum, homogenous calcifications in the abdominal cavity, hepatic cholestasis, cirrhosis, and chronic liver failure, hypoplastic thymus, and increased susceptibility to mainly bacteria and viruses. The immunological phenotype consists of profound generalized T-cell lymphopenia and milder natural killer cell and B-cell lymphopenia, as well as low serum levels of IgG, IgA, and IgM, with elevated serum IgE. The disease is mostly fatal in infancy or childhood. tmpaxzxjjyw_mondo_relaxed.owl combined immunodeficiency-enteropathy spectrum|MINAT|CID-MIA/early-onset IBD|familial intestinal polyatresia syndrome|intestinal atresia, multiple|FIPA|multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency Orphanet:436252|OMIM:243150 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/4167 owl:Class MONDO:0003222 biolink:NamedThing central nervous system melanocytic neoplasm A primary tumor of the central nervous system that arises from leptomeningeal melanocytes. It may present as a diffuse proliferative leptomeningeal process (often as a component of the neurocutaneous melanosis complex) or as a distinct mass lesion. tmpaxzxjjyw_mondo_relaxed.owl primary melanocytic lesions of the CNS|melanocytic neoplasm of central nervous system|central nervous system melanocytic tumor|central nervous system melanocytic neoplasms|central nervous system primary melanocytic lesion|primary melanocytic lesion of meninges|melanocytic neoplasm of CNS|melanocytic tumor of central nervous system|melanocytic neoplasm of the CNS|CNS melanocytic neoplasm|melanocytic tumor of the CNS|melanocytic tumor of CNS|central nervous system melanocytic neoplasm|CNS melanocytic tumor|melanocytic neoplasm of the central nervous system|melanocytic tumor of the central nervous system SCTID:277523004|EFO:1000493|UMLS:C1332887|NCIT:C5504|DOID:4955 owl:Class HGNC:10069 biolink:NamedThing RNF6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18391 biolink:NamedThing SCGB3A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008093 biolink:NamedThing nevus, epidermal A benign, pigmented skin growth caused by an overgrowth of the epidermis. It is typically seen at birth, but can develop in early childhood or later in life. Most cases are sporadic, but familial patterns of inheritance have been observed. tmpaxzxjjyw_mondo_relaxed.owl Nevus, woolly hair|nevus, epidermal|Nevus, Keratinocytic, nonepidermolytic|Epidermal Nevus|Nevus sebaceous|nonepidermolytic keratinocytic nevus MESH:C580062|OMIM:162900|GARD:0013025|Orphanet:79414|DOID:0111162|NCIT:C4088 owl:Class MONDO:0003417 biolink:NamedThing internuclear ophthalmoplegia tmpaxzxjjyw_mondo_relaxed.owl ICD10:H51.2|UMLS:C0152134|DOID:538|ICD9:378.86|SCTID:49823009 owl:Class MONDO:0009755 biolink:NamedThing neutrophil actin dysfunction Solitary or multiple, slightly raised, pigmented lesions with irregular borders, usually measuring more than 0.6cm in greatest dimension. Morphologically, there is melanocytic atypia and the differential diagnosis from melanoma may be difficult. Patients are at an increased risk for the development of melanoma. tmpaxzxjjyw_mondo_relaxed.owl NAD|Clark's Nevus|dysplastic nevi|neutrophil actin dysfunction|lentiginous Nevus|Atypical Nevus|Nevus with architectural disorder|dysplastic Nevus|dysplastic nevus|Nevus with architectural disorder and cytologic atypia of melanocytes|Clark Nevus Orphanet:625|MESH:C564942|OMIM:257150|NCIT:C3694|UMLS:C1850380 owl:Class NCBITaxon:33259 biolink:NamedThing Toxocaridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6178 biolink:NamedThing Trematoda tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006267 biolink:NamedThing liver cavernous hemangioma A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females. tmpaxzxjjyw_mondo_relaxed.owl liver cavernous hemangioma|cavernous hemangioma of liver UMLS:C3282904|EFO:1000322|NCIT:C96839 owl:Class MONDO:0004928 biolink:NamedThing lymph node disorder Any disorder of the lymph nodes. tmpaxzxjjyw_mondo_relaxed.owl lymph node disorder|disease or disorder of lymph node|lymph node disease or disorder|lymph node disease|disease of lymph node|disorder of lymph node NCIT:C35346|DOID:9942|SCTID:76616003|UMLS:C0272394 owl:Class MONDO:0016568 biolink:NamedThing Lowe-Kohn-Cohen syndrome Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983. tmpaxzxjjyw_mondo_relaxed.owl Lowe Kohn Cohen syndrome|deafness-nephritis-ano-rectal malformation syndrome|dominant ano-rectal malformation, nephritis and nerve-deafness|deafness - nephritis - ano-rectal malformation|deafness nephritis anorectal malformation SCTID:766249007|MESH:C535996|UMLS:C2931080|Orphanet:2408|ICD10:Q87.8|GARD:0001695 Editor note: check GARD assignment https://rarediseases.info.nih.gov/diseases/1695/deafness-nephritis-anorectal-malformation owl:Class CL:0002200 biolink:NamedThing oxyphil cell of thyroid An oncocyte located in the thyroid. tmpaxzxjjyw_mondo_relaxed.owl Hurthle cells|Askanazy cells FMA:87169 tmeehan 2010-09-02T11:33:26Z cell owl:Class CL:0002198 biolink:NamedThing oncocyte A large epithelial cell with an extremely acidophilic and granular cytoplasm, containing vast numbers of mitochondria; such cells may undergo neoplastic transformation. From the Greek word onkos meaning swelling, this cell type is found in parathyroid, salivary and thyroid glands. tmpaxzxjjyw_mondo_relaxed.owl oxyphil FMA:67606 tmeehan 2010-09-02T11:26:49Z cell owl:Class MONDO:0006579 biolink:NamedThing melanoacanthoma A benign, darkly pigmented skin lesion characterized by proliferation of keratinocytes and melanocytes. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1321683|EFO:1000733|NCIT:C27548|Wikipedia:Melanocanthoma|SCTID:394727000|DOID:11684 owl:Class NCBITaxon:5553 biolink:NamedThing Trichosporon beigelii tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5552 biolink:NamedThing Trichosporon tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:165811|NCBITaxon:599816|NCBITaxon:106843|NCBITaxon:107448 ncbi_taxonomy owl:Class HGNC:5967 biolink:NamedThing IL11RA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008586 biolink:NamedThing esophageal atresia/tracheoesophageal fistula Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea. tmpaxzxjjyw_mondo_relaxed.owl esophageal atresia with or without tracheoesophageal fistula|tracheoesophageal fistula|tracheoesophageal fistula with or without esohageal atresia|te fistula|esophageal atresia and/or tracheoesophageal fistula|TEF|tracheoesophageal fistula with or without esophageal atresia SCTID:95435007|DOID:0080171|ICD10:Q39.1|MedDRA:10030146|MedDRA:10021530|OMIM:189960|Orphanet:1199|MESH:C531835|ICD10:Q39.0|GARD:0007792 owl:Class GO:1903039 biolink:NamedThing positive regulation of leukocyte cell-cell adhesion Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of leukocyte cell adhesion|activation of leukocyte cell adhesion|up regulation of leukocyte cell adhesion|up regulation of leukocyte adhesion|up-regulation of leukocyte cell-cell adhesion|upregulation of leukocyte cell adhesion|positive regulation of leukocyte cell adhesion|upregulation of leukocyte adhesion|positive regulation of leukocyte adhesion|upregulation of leukocyte cell-cell adhesion|up regulation of leukocyte cell-cell adhesion|activation of leukocyte adhesion|up-regulation of leukocyte adhesion|activation of leukocyte cell-cell adhesion owl:Class MONDO:0044874 biolink:NamedThing refractory cytopenia of childhood The most common subtype of the myelodysplastic syndromes affecting children. It is characterized by persistent cytopenia with less than 5% blasts in the bone marrow and less than 2% blasts in the peripheral blood. tmpaxzxjjyw_mondo_relaxed.owl RCC|refractory cytopenia of childhood ONCOTREE:RCYC|NCIT:C82596 owl:Class CHEBI:30563 biolink:NamedThing silicon dioxide A silicon oxide made up of linear triatomic molecules in which a silicon atom is covalently bonded to two oxygens. tmpaxzxjjyw_mondo_relaxed.owl [SiO2]|silicon(IV) oxide|SiO2|Siliziumdioxid|silica|(SiO2)n|silicic anhydride|Kieselsaeureanhydrid|silicon dioxide|Silica, amorphous owl:Class GO:2000834 biolink:NamedThing regulation of androgen secretion Any process that modulates the frequency, rate or extent of androgen secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012963 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 3 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene. tmpaxzxjjyw_mondo_relaxed.owl nephropathy, diabetic, susceptibility to|ACE microvascular complications of diabetes, susceptibility|end-stage renal disease, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, 3|MVCD3|microvascular complications of diabetes, susceptibility to, type 3|microvascular complications of diabetes, susceptibility caused by mutation in ACE OMIM:612624 owl:Class MONDO:0013484 biolink:NamedThing cataract 36 Any cataract in which the cause of the disease is a mutation in the TDRD7 gene. tmpaxzxjjyw_mondo_relaxed.owl cataract, autosomal recessive congenital 4|CATC4|cataract (disease) caused by mutation in TDRD7|TDRD7 cataract (disease)|cataract 36|CTRCT36|autosomal recessive congenital cataract 4|cataract type 36 OMIM:613887|DOID:0110247|UMLS:C3151304 owl:Class MONDO:0001385 biolink:NamedThing cortical blindness Visual impairment due to visual cortex dysfunction. tmpaxzxjjyw_mondo_relaxed.owl ICD9:377.75|MESH:D019575|NCIT:C118707|UMLS:C0155320|DOID:11831|ICD10:H47.61|SCTID:68574006 owl:Class GO:0060452 biolink:NamedThing positive regulation of cardiac muscle contraction Any process that increases the frequency, rate or extent of cardiac muscle contraction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:9000021 biolink:NamedThing exposure to alkali metal salt An exposure to alkali metal salt. tmpaxzxjjyw_mondo_relaxed.owl exposure to alkali metal salt owl:Class ECTO:9000409 biolink:NamedThing exposure to salt An exposure to salt. tmpaxzxjjyw_mondo_relaxed.owl exposure to salt owl:Class GO:0010669 biolink:NamedThing epithelial structure maintenance A tissue homeostatic process required for the maintenance of epithelial structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001176 biolink:NamedThing invertebrate animal food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016746 biolink:NamedThing acyltransferase activity Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor). tmpaxzxjjyw_mondo_relaxed.owl acyltransferase activity|transferase activity, transferring acyl groups owl:Class MONDO:0017683 biolink:NamedThing methylcobalamin deficiency type cblDv1 tmpaxzxjjyw_mondo_relaxed.owl functional methionine synthase deficiency type cblDv1 Orphanet:308380|UMLS:CN203574|ICD10:E72.1|OMIM:277410 owl:Class HP:0001654 biolink:NamedThing Abnormal heart valve morphology Any structural abnormality of a cardiac valve. tmpaxzxjjyw_mondo_relaxed.owl Valvular heart disease|Abnormality of the heart valves|Valvular abnormality MSH:D006349|UMLS:C0241654|SNOMEDCT_US:368009|UMLS:C0018824 HP:0001703 human_phenotype owl:Class MONDO:0012019 biolink:NamedThing spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy. tmpaxzxjjyw_mondo_relaxed.owl Sedk|SEDK|spondyloepiphyseal dysplasia, Kimberley type OMIM:608361|MESH:C564252|SCTID:719203001|ICD10:Q77.7|Orphanet:93283 owl:Class MONDO:0032921 biolink:NamedThing neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation tmpaxzxjjyw_mondo_relaxed.owl NEDHRIT|NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION OMIM:618797 owl:Class MONDO:0009409 biolink:NamedThing hypervitaminosis a, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl hypervitaminosis a, susceptibility to OMIM:240150 owl:Class HGNC:3260 biolink:NamedThing EIF2B4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010465 biolink:NamedThing Precocious puberty in females The onset of puberty before the age of 8 years in girls. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271616|SNOMEDCT_US:19911007 peter 2009-09-15T08:48:42Z human_phenotype owl:Class GO:1904540 biolink:NamedThing positive regulation of glycolytic process through fructose-6-phosphate Any process that activates or increases the frequency, rate or extent of glycolytic process through fructose-6-phosphate. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of glycolytic process through fructose-6-phosphate|up-regulation of glycolysis through fructose-6-phosphate|positive regulation of glycolysis through fructose-6-phosphate|upregulation of glycolysis through fructose-6-phosphate|up regulation of glycolysis through fructose-6-phosphate|activation of glycolysis through fructose-6-phosphate|up regulation of glycolytic process through fructose-6-phosphate|upregulation of glycolytic process through fructose-6-phosphate|activation of glycolytic process through fructose-6-phosphate owl:Class HGNC:21734 biolink:NamedThing LHX4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000875 biolink:NamedThing precipitation process A precipitation process is a process in which a portion of some substance segregates from a material in which that substance or its precursors were dissolved or suspended in and settles due to a force such as gravity or centrifugal force. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:03000010 biolink:NamedThing material transport process A process during which material is displaced from its original location and transported either to a new location or back to the original location. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001296 biolink:NamedThing acquired night blindness An instance of night blindness that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired night blindness ICD9:368.62|DOID:11491|ICD10:H53.62|SCTID:53808001 owl:Class CHEBI:6121 biolink:NamedThing ketamine A member of the class of cyclohexanones in which one of the hydrogens at position 2 is substituted by a 2-chlorophenyl group, while the other is substituted by a methylamino group. tmpaxzxjjyw_mondo_relaxed.owl special K|ketaminum|Ketamine|2-(methylamino)-2-(2-chlorophenyl)cyclohexanone|2-(2-Chloro-phenyl)-2-methylamino-cyclohexanone|dl-ketamine|ketamina|2-(2-chlorophenyl)-2-(methylamino)cyclohexanone|(+-)-ketamine|DL-ketamine|KETAMINE|2-(o-chlorophenyl)-2-(methylamino)-cyclohexanone|ketamine|NMDA owl:Class MONDO:0016490 biolink:NamedThing hemoglobin C-beta-thalassemia syndrome Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia. tmpaxzxjjyw_mondo_relaxed.owl HBC-beta-thalassemia syndrome|C-beta-thalassemia ICD10:D58.2|UMLS:CN201488|Orphanet:231242 owl:Class MONDO:0010163 biolink:NamedThing Tyrosinosis tmpaxzxjjyw_mondo_relaxed.owl Tyrosinosis MESH:C562659|SCTID:57414003|ICD9:270.2|UMLS:C0268484|OMIM:276800 owl:Class ENVO:01000034 biolink:NamedThing oceanic sea surface microlayer biome The oceanic sea surface microlayer (SML) biome comprises the top 1000 micrometers of the marine surface waters occurring offshore, away from a continental shelf. It is the boundary layer where all exchange occurs between the atmosphere and the ocean. The chemical, physical, and biological properties of the SML differ greatly from the sub-surface water just a few centimeters beneath. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0027069 biolink:NamedThing mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 tmpaxzxjjyw_mondo_relaxed.owl MC5DM1|mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1 DOID:0111748|OMIM:500015 owl:Class MONDO:0006462 biolink:NamedThing thyroid gland diffuse large B-cell lymphoma A diffuse large B-cell lymphoma primarily involving the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl primary thyroid gland diffuse large B-cell lymphoma|thyroid gland diffuse large B-cell lymphoma|thyroid diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of the thyroid gland|diffuse large B-cell lymphoma of the thyroid|diffuse large B-cell lymphoma of thyroid|diffuse large B-cell lymphoma of thyroid gland NCIT:C6046|UMLS:C1336749|EFO:1000587 owl:Class MONDO:0019962 biolink:NamedThing thyroid lymphoma A lymphoma primarily involving the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl thyroid lymphoma|primary thyroid gland lymphoma|lymphoma of the thyroid|lymphoma of the thyroid gland|thyroid gland lymphoma|lymphoma of thyroid|lymphoma of thyroid gland UMLS:C1336753|ICD10:C85.7|NCIT:C5265|DOID:10011|Orphanet:97285 owl:Class MONDO:0020765 biolink:NamedThing neuropathy, congenital hypomyelinating, 2 tmpaxzxjjyw_mondo_relaxed.owl NEUROPATHY, CONGENITAL HYPOMYELINATING, 2|CHN2 OMIM:618184 owl:Class MONDO:0017231 biolink:NamedThing erythropoietic uroporphyria associated with myeloid malignancy tmpaxzxjjyw_mondo_relaxed.owl ICD10:E80.2|GARD:0010948|Orphanet:280379 https://rarediseases.info.nih.gov/diseases/10948/erythropoietic-uroporphyria-associated-with-myeloid-malignancy owl:Class MONDO:0017621 biolink:NamedThing congenital sucrase-isomaltase deficiency with starch and lactose intolerance tmpaxzxjjyw_mondo_relaxed.owl disaccharide intolerance with starch and lactose intolerance|CSID with starch and lactose intolerance|congenital sucrase-isomaltose malabsorption with starch and lactose intolerance|congenital sucrose intolerance with starch and lactose intolerance Orphanet:306474|ICD10:E74.3 owl:Class MONDO:0010794 biolink:NamedThing NARP syndrome Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy. tmpaxzxjjyw_mondo_relaxed.owl neuropathy, ataxia, and retinitis pigmentosa|NARP syndrome|neuropathy ataxia retinitis pigmentosa syndrome|neuropathy-ataxia-retinitis pigmentosa syndrome|NARP|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome UMLS:C1328349|OMIM:551500|DOID:0111273|MedDRA:10062940|Orphanet:644|MESH:C537396|ICD10:G31.8|GARD:0000262 owl:Class CHEBI:61655 biolink:NamedThing steroid saponin Any saponin derived from a hydroxysteroid. tmpaxzxjjyw_mondo_relaxed.owl steroidal glycoside|steroid glycosides|steroid glycoside|sterol glycoside|sterol glycosides|steryl glycosides|glycosteroid|steroidal glycosides|steroid saponins|glycosteroids|glycosyl steroid|glycosyl steroids|steryl glycoside owl:Class HGNC:2277 biolink:NamedThing COX6A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014303 biolink:NamedThing hereditary spastic paraplegia 64 An extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1|autosomal recessive spastic paraplegia 64|autosomal recessive spastic paraplegia type 64|spastic paraplegia 64, autosomal recessive|hereditary spastic paraplegia type 64|SPG64|ENTPD1 autosomal recessive complex spastic paraplegia Orphanet:401810|ICD10:G11.4|UMLS:C3810289|SCTID:726609005|UMLS:C4511960|DOID:0110815|OMIM:615683 owl:Class MONDO:0014353 biolink:NamedThing immunodeficiency 23 tmpaxzxjjyw_mondo_relaxed.owl combined inflammatory and immunologic defect|PGM3-CDG|immunodeficiency 23|immunodeficiency type 23|phosphoglucomutase 3 deficiency|immunodeficiency with hyper IgE and cognitive impairment|combined immunodeficiency due to PGM3 deficiency|phosphoglucomutase deficiency type 3|immunodeficiency-vasculitis-myoclonus syndrome|CID due to PGM3 deficiency|IMD23|PGM3-EXACT congenital disorder of glycosylation UMLS:C1857617|MESH:C565684|ICD10:E77.8|OMIM:216920|UMLS:C4014371|OMIM:615816|GARD:0004331|Orphanet:443811 owl:Class MONDO:0043994 biolink:NamedThing acute cholecystitis Acute inflammation of the gallbladder. tmpaxzxjjyw_mondo_relaxed.owl acute cholecystitis NCIT:C35152|SCTID:65275009|MESH:D041881 owl:Class MONDO:0010125 biolink:NamedThing upper limb defect-eye and ear abnormalities syndrome Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation. tmpaxzxjjyw_mondo_relaxed.owl thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness MESH:C564769|ICD10:Q87.8|UMLS:C1848816|OMIM:274205|Orphanet:2489 owl:Class MONDO:0016765 biolink:NamedThing 19p13.12 microdeletion syndrome 19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl Chromosome19p13.12 microdeletion|monosomy 19p13.12|Del(19)(p13.12) UMLS:C4304579|SCTID:719597005|UMLS:CN202023|Orphanet:254346|GARD:0010991|ICD10:Q93.5 https://rarediseases.info.nih.gov/diseases/10991/19p1312-microdeletion-syndrome owl:Class PATO:0001796 biolink:NamedThing decreased coiling A coiling which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl low coiling owl:Class GO:0120305 biolink:NamedThing regulation of pigmentation Any process that modulates the frequency, rate or extent of the deposition or modulates the distribution of coloring matter in an organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100016 biolink:NamedThing early-onset generalized dystonia tmpaxzxjjyw_mondo_relaxed.owl A generalized isolated dystonia characterized by early-onset, which may be clinically indistinguishable from DYT-TOR1A and may be the most common cause of early-onset generalized dystonia, at least outside the Askenazi Jewish population.|early-onset, generalized dystonia with mild syndromic features|early-onset generalized isolated dystonia|DYT-KMT2B 2018-05-25 20:53:07+00:00 owl:Class CL:0000829 biolink:NamedThing basophilic myeloblast A myeloblast committed to the basophil lineage. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class UBERON:0013585 biolink:NamedThing metapodium bone 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032933 biolink:NamedThing chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl CHROMOSOME 1p36.33 DUPLICATION SYNDROME, ATAD3 GENE CLUSTER, AUTOSOMAL DOMINANT OMIM:618815 owl:Class MONDO:0016128 biolink:NamedThing parasitic myositis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:206997|ICD10:M60.0|UMLS:C0263997|ICD9:728.2|SCTID:60970005 owl:Class MONDO:0019482 biolink:NamedThing dendritic cell sarcoma not otherwise specified tmpaxzxjjyw_mondo_relaxed.owl Orphanet:86903|ICD10:C96.4 owl:Class UBERON:0001956 biolink:NamedThing cartilage of bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004981 biolink:NamedThing atrial fibrillation A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC) tmpaxzxjjyw_mondo_relaxed.owl AF|A-fib|AFib|atrial fibrillation (disease)|atrial fibrillation atrial fibrillation (disease) HP:0005110|UMLS:C0004238|ICD9:427.31|SCTID:49436004|OMIM:615770|ICD10:I48|OMIM:613120|NCIT:C50466|DOID:0060224|EFO:0000275|OMIM:611819 owl:Class MONDO:0011841 biolink:NamedThing biotin-responsive basal ganglia disease tmpaxzxjjyw_mondo_relaxed.owl biotin-thiamine-responsive basal ganglia disease|THMD2|basal ganglia disease, biotin-responsive|BBGD|BTBGD|encephalopathy, thiamine-responsive|thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type) UMLS:C1843807|Orphanet:199348|ICD10:G25.8|ICD9:333.99|MESH:C537658|DOID:0050659|GARD:0010237|Orphanet:65284|SCTID:703522009|OMIM:607483 owl:Class UBERON:0002415 biolink:NamedThing tail tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011847 biolink:NamedThing migraine without aura, susceptibility to, 4 A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms. tmpaxzxjjyw_mondo_relaxed.owl common migraine|MGOA|migraine without aura, susceptibility to, 4|MGR4|migraine without aura, susceptibility to, type 4 ICD10:G43.0|HP:0002083|OMIM:607501|ICD9:346.1|ICD10:G43.009 https://github.com/monarch-initiative/mondo/issues/3984 owl:Class MONDO:0002769 biolink:NamedThing leukorrhea Whitish or yellowish mucosal vaginal discharge. tmpaxzxjjyw_mondo_relaxed.owl discharge - leukorrhea|leukorrhea of vagina DOID:3766|MESH:D007973|ICD10:N89.8|NCIT:C34775 owl:Class UBERON:8410043 biolink:NamedThing bronchus submucosal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14289 biolink:NamedThing NLGN3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013711 biolink:NamedThing peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome tmpaxzxjjyw_mondo_relaxed.owl peripheral neuropathy-myopathy-hoarseness-deafness syndrome|PNMHH|peripheral neuropathy, myopathy, hoarseness, and hearing loss UMLS:C3280556|ICD10:G60.0|OMIM:614369|Orphanet:397744 owl:Class MONDO:0036483 biolink:NamedThing short-rib thoracic dysplasia 18 with polydactyly tmpaxzxjjyw_mondo_relaxed.owl short-rib thoracic dysplasia 18 with polydactyly|SRTD18 DOID:0080293|UMLS:CN795020|OMIM:617866 owl:Class MONDO:0008703 biolink:NamedThing acromesomelic dysplasia, Grebe type Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal. tmpaxzxjjyw_mondo_relaxed.owl Grebe dysplasia|achondrogenesis type II (formerly)|Grebe syndrome|achondrogenesis, type II, formerly|GREBE chondrodysplasia|Grebe chondrodysplasia|type II achondrogenesis|hypochondrogenesis|chondrodysplasia, GREBE type|achondrogenesis, type II|Langer-Saldino achondrogenesis|acromesomelic dysplasia, Grebe type|achondrogenesis, Brazilian|AMDG|chondrodysplasia, Grebe type|Brazilian achondrogenesis OMIM:609441|NCIT:C3816|Orphanet:2098|DOID:0080052|GARD:0001300|ICD10:Q78.8|OMIM:200700|UMLS:C0265260 owl:Class GO:0071692 biolink:NamedThing protein localization to extracellular region Any process in which a protein is transported from one specific location in the extracellular region to another, or maintained in a specific extracellular location. tmpaxzxjjyw_mondo_relaxed.owl protein localization in extracellular region|protein localisation in extracellular region owl:Class MONDO:0013368 biolink:NamedThing mammary-digital-nail syndrome Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. tmpaxzxjjyw_mondo_relaxed.owl onycho-digito-mammary syndrome|MDNS|mammary-digital-nail syndrome|MDN syndrome SCTID:718679004|ICD10:Q87.2|OMIM:613689|UMLS:C3150946|Orphanet:238744 owl:Class MONDO:0023030 biolink:NamedThing dysmorphism cleft palate loose skin tmpaxzxjjyw_mondo_relaxed.owl GARD:0002009 https://rarediseases.info.nih.gov/diseases/2009/dysmorphism-cleft-palate-loose-skin owl:Class MONDO:0004143 biolink:NamedThing psammomatous meningioma A WHO grade I meningioma characterized by the presence of psammoma bodies that predominate over the meningeal cells. tmpaxzxjjyw_mondo_relaxed.owl psammomatous meningioma (morphologic abnormality) ICDO:9533/0|DOID:7210|EFO:1000500|NCIT:C4331|UMLS:C0334607|MESH:D008579 owl:Class HP:0001005 biolink:NamedThing Dermatological manifestations of systemic disorders tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025812 human_phenotype owl:Class MONDO:0005487 biolink:NamedThing schizoaffective disorder A disorder in which the individual suffers from both symptoms that qualify as schizophrenia and symptoms that qualify as a mood disorder (e.g., depression or bipolar disorder) for a substantial portion (but not all) of the active period of the illness; for the remainder of the active period of the illness, the individual suffers from delusions or hallucinations in the absence of prominent mood symptoms. tmpaxzxjjyw_mondo_relaxed.owl ICD9:295.7|EFO:0005411|ICD10:F25.9|ICD10:F25|NCIT:C94378|DOID:5418 owl:Class MONDO:0005801 biolink:NamedThing human T-lymphotropic virus 1 infectious disease A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder. tmpaxzxjjyw_mondo_relaxed.owl Human T-lymphotropic virus 1 infectious disease|Human T-lymphotropic virus 1 disease or disorder|HTLV-1|Human T lymphotropic virus type 1|human T-lymphotropic virus 1 infectious disease|Human T-lymphotropic virus 1 caused disease or disorder GARD:0009645|UMLS:C0020097|MESH:D015490|EFO:0007316 owl:Class HGNC:8490 biolink:NamedThing ORC4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022510 biolink:NamedThing atlanto-axial fusion tmpaxzxjjyw_mondo_relaxed.owl atlantoaxial fusion|atlantoaxial joint fusion GARD:0009219|MESH:C538196 https://rarediseases.info.nih.gov/diseases/9219/atlanto-axial-fusion owl:Class GO:1900450 biolink:NamedThing negative regulation of glutamate receptor signaling pathway Any process that stops, prevents or reduces the frequency, rate or extent of glutamate receptor signaling pathway. tmpaxzxjjyw_mondo_relaxed.owl inhibition of glutamate receptor signaling pathway|down-regulation of glutamate receptor signaling pathway|inhibition of glutamate signaling pathway|down-regulation of glutamate signalling pathway|down regulation of glutamate signaling pathway|negative regulation of glutamate signaling pathway|down-regulation of glutamate signaling pathway|inhibition of glutamate signalling pathway|downregulation of glutamate receptor signaling pathway|downregulation of glutamate signaling pathway|down regulation of glutamate receptor signaling pathway|negative regulation of glutamate signalling pathway|down regulation of glutamate signalling pathway|downregulation of glutamate signalling pathway owl:Class MONDO:0009036 biolink:NamedThing cardiocranial syndrome, Pfeiffer type Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit). tmpaxzxjjyw_mondo_relaxed.owl Pfeiffer Singer Zschiesche syndrome|craniosynostosis-congenital heart disease-intellectual disability syndrome|Pfeiffer Cardiocranial syndrome|Pfeiffer-type cardiocranial syndrome|sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis|Pfeiffer-Singer-Zschiesche syndrome|craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis|Cardiocranial syndrome MESH:C535578|ICD10:Q87.8|SCTID:720606005|UMLS:C1857495|GARD:0008586|Orphanet:2872|OMIM:218450 owl:Class GO:0006707 biolink:NamedThing cholesterol catabolic process The chemical reactions and pathways resulting in the breakdown of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. tmpaxzxjjyw_mondo_relaxed.owl cholesterol degradation|cholesterol catabolism|cholesterol breakdown owl:Class MONDO:0004364 biolink:NamedThing choroid necrotic melanoma tmpaxzxjjyw_mondo_relaxed.owl necrotic choroid melanoma|choroid necrotic melanoma|necrotic melanoma of the choroid|necrotic melanoma of choroid NCIT:C6865|UMLS:C1333026|DOID:7807 owl:Class GO:0003032 biolink:NamedThing detection of oxygen The series of events in which an oxygen stimulus is received by a cell and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020777 biolink:NamedThing congenital disorder of glycosylation with defective fucosylation 2 tmpaxzxjjyw_mondo_relaxed.owl CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2|CDGF2 OMIM:618324 owl:Class MONDO:0060720 biolink:NamedThing congenital disorder of glycosylation with defective fucosylation tmpaxzxjjyw_mondo_relaxed.owl CDGF|congenital disorder of glycosylation with defective fucosylation UMLS:CN248517|OMIMPS:618005 owl:Class GO:0015986 biolink:NamedThing ATP synthesis coupled proton transport The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. tmpaxzxjjyw_mondo_relaxed.owl chemiosmosis owl:Class MONDO:0007952 biolink:NamedThing maxillofacial dysostosis tmpaxzxjjyw_mondo_relaxed.owl maxillofacial dysostosis OMIM:155000|GARD:0006991|UMLS:C1835088|MESH:C563599 https://rarediseases.info.nih.gov/diseases/6991/maxillofacial-dysostosis owl:Class CHEBI:64909 biolink:NamedThing poison Any substance that causes disturbance to organisms by chemical reaction or other activity on the molecular scale, when a sufficient quantity is absorbed by the organism. tmpaxzxjjyw_mondo_relaxed.owl toxic substance|poisons|toxic agent|poisonous agent|toxic substances|poisonous agents|poisonous substances|poisonous substance|toxic agents owl:Class MONDO:0019610 biolink:NamedThing Zollinger-Ellison syndrome Zollinger-Ellison syndrome (ZES) is characterized by severe peptic disease (ulcers/esophageal disease) caused by hypergastrinemia secondary to a gastrinoma resulting in increased gastric acid secretion. tmpaxzxjjyw_mondo_relaxed.owl Zollinger-Ellison syndrome (disease)|Zollinger Ellison syndrome|Zollinger-Ellison syndrome|Z-E syndrome|pancreatic ulcerogenic tumor syndrome|Z E syndrome|ZES|gastrinoma Orphanet:913|DOID:0050782|ICD10:C25.4|HP:0002044|ICD10:E16.4|GARD:0007918|ICD10:D37.7|MedDRA:10017852|SCTID:53132006|NCIT:C3453|UMLS:C0043515|MESH:D015043|MESH:D015408|EFO:0007549 owl:Class HP:0100360 biolink:NamedThing Contractures of the joints of the upper limbs tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750635 doelkens 2010-11-11T04:18:29Z human_phenotype owl:Class HP:0003121 biolink:NamedThing Limb joint contracture A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. tmpaxzxjjyw_mondo_relaxed.owl Limb contractures UMLS:C1969879 HP:0005631|HP:0005839 human_phenotype owl:Class MONDO:0020757 biolink:NamedThing sporadic hemiplegic migraine A migraine disorder characterized by an aura that includes motor weakness and the absence of family history. tmpaxzxjjyw_mondo_relaxed.owl sporadic hemiplegic migraine NCIT:C117011 owl:Class MONDO:0001159 biolink:NamedThing multiple personality disorder A disorder characterized by the presence of two or more identities with distinct patterns of perception and personality which recurrently take control of the person's behavior; this is accompanied by a retrospective gap in memory of important personal information that far exceeds ordinary forgetfulness. The changes in identity are not due to substance use or to a general medical condition. tmpaxzxjjyw_mondo_relaxed.owl dissociative identity disorder DOID:10934|NCIT:C94330|SCTID:31611000|ICD9:300.14|ICD10:F44.81|MESH:D009105 owl:Class MONDO:0023961 biolink:NamedThing visceral neuropathy, familial tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:243180 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0023200 biolink:NamedThing Fryns Fabry Remans syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0002407 https://rarediseases.info.nih.gov/diseases/2407/fryns-fabry-remans-syndrome owl:Class NCBITaxon:2499398 biolink:NamedThing Arnidovirineae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016290 biolink:NamedThing Hernández-Aguirre Negrete syndrome A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome with progeroid facies and mild mental retardation|intellectual disability-epilepsy-bulbous nose syndrome|Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability Orphanet:2139|SCTID:721146009|GARD:0003491|ICD10:Q87.8|MESH:C538112 https://github.com/monarch-initiative/mondo/issues/3597 owl:Class MONDO:0032908 biolink:NamedThing CEBALID syndrome tmpaxzxjjyw_mondo_relaxed.owl MN1 C-terminal truncation syndrome|MCTT|Craniofacial Defects, Dysmorphic Ears, Structural Brain Abnormalities, Expressive Language Delay, and Impaired Intellectual Development|CEBALID SYNDROME|CEBALID OMIM:618774 owl:Class UBERON:0005257 biolink:NamedThing manual digit mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0003872 biolink:NamedThing 6-phosphofructokinase activity Catalysis of the reaction: ATP + D-fructose-6-phosphate = ADP + D-fructose 1,6-bisphosphate. tmpaxzxjjyw_mondo_relaxed.owl D-fructose-6-phosphate 1-phosphotransferase activity|phosphohexokinase activity|phosphofructokinase I activity|nucleotide triphosphate-dependent phosphofructokinase activity|PFK|6-phosphofructokinase reduction|phosphofructokinase (phosphorylating)|ATP:D-fructose-6-phosphate 1-phosphotransferase activity|fructose 6-phosphate kinase activity|phospho-1,6-fructokinase activity|6-phosphofructose 1-kinase activity|ATP-dependent phosphofructokinase activity|fructose 6-phosphokinase activity owl:Class GO:0008443 biolink:NamedThing phosphofructokinase activity Catalysis of the transfer of a phosphate group, usually from ATP, to a phosphofructose substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019842 biolink:NamedThing vitamin binding Binding to a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010720 biolink:NamedThing partial androgen insensitivity syndrome Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. tmpaxzxjjyw_mondo_relaxed.owl androgen insensitivity syndrome, partial|Reifenstein syndrome, partial|androgen insensitivity, partial, with or without breast cancer|pais|type I familial incomplete male pseudohermaphroditism|androgen resistance syndrome, partial|incomplete male pseudohermaphroditism|Reifenstein syndrome|familial incomplete Male pseudohermaphroditism, type 1|pseudohermaphroditism, incomplete male, type I|partial androgen resistance syndrome|androgen insensitivity, partial|PAIS GTR:AN0098655|GTR:AN0098651|OMIM:312100|ICD10:E34.5|SCTID:122811000119101|OMIM:307300|GARD:0005692|GTR:AN0098650|UMLS:CN035075|NCIT:C120192|Orphanet:90797|ICD10:E34.52|MESH:C538435|GTR:AN0098654|OMIM:312300|GTR:AN0098649|GTR:AN0098652 https://rarediseases.info.nih.gov/diseases/5692/partial-androgen-insensitivity-syndrome owl:Class MONDO:0019154 biolink:NamedThing androgen insensitivity syndrome Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). tmpaxzxjjyw_mondo_relaxed.owl Feminisation - testicular|AR deficiency|Morris syndrome|AIS|DHTR deficiency|dihydrotestosterone receptor deficiency|androgen-insensitivity syndrome|Goldberg - Maxwell syndrome|Goldberg-Maxwell syndrome|testicular feminization syndrome|testicular feminization|androgen insensitivity syndrome|androgen resistance syndrome|androgen receptor deficiency|testicular feminization syndrome (formerly) ICD9:259.5|MESH:D013734|MedDRA:10056292|NCIT:C120191|GARD:0005803|ICD10:E34.5|SCTID:12313004|ICD9:259.8|ICD10:E34.50|NCIT:C27226|UMLS:C0039585|OMIM:300068|DOID:4674|ICD9:259.51|ICD10:E34.51|Orphanet:754|SCTID:368851000119102 https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome owl:Class HP:0000598 biolink:NamedThing Abnormality of the ear An abnormality of the ear. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the ear|Ear anomaly UMLS:C0266589|SNOMEDCT_US:275259005 Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. human_phenotype owl:Class MONDO:0100344 biolink:NamedThing Bartter disease type 1 tmpaxzxjjyw_mondo_relaxed.owl Bartter syndrome, furosemide-amiloride type|antenatal Bartter syndrome|BARTS1|hypokalemic alkalosis with hypercalciuria antenatal 1|hyperprostaglandin E syndrome|antenatal Bartter syndrome type 1|SLC12A1 Bartter syndrome|Bartter syndrome, antenatal, type 1|Bartter syndrome type 1 antenatal|hypokalemic alkalosis with hypercalciuria, antenatal, 1|hypokalemic alkalosis with hypercalciuria 1 antenatal|Bartter syndrome, type 1, antenatal|hyperprostaglandin E syndrome 1|Bartter disease type 1|Bartter syndrome type 1|Bartter syndrome caused by mutation in SLC12A1|Bartter syndrome antenatal type 1|Bartter syndrome, furosemide type|hypokalemic alkalosis with hypercalciuria 1, antenatal MESH:C537652|DOID:0110142|GARD:0000830|OMIM:601678|OMIM:300971|OMIM:241200|Orphanet:93604|SCTID:700107006|Orphanet:112|ICD10:E26.8 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007788 biolink:NamedThing hypertriglyceridemia, familial An instance of hypertriglyceridemia (disease) that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hypertriglyceridemia, familial|hereditary hypertriglyceridemia (disease) OMIM:145750|SCTID:34528009 owl:Class ENVO:00000109 biolink:NamedThing woodland area Land having a cover of trees, shrubs, or both. tmpaxzxjjyw_mondo_relaxed.owl equatorial forest|shrub|equatorial rain forest|taiga|brigalow|sagebrush|motte|stand|silva|copse|rain forest|jungle|mulga|wood|scrub|chanaral|thorn forest|moor|monsoon forest|tropical rain forest|thicket|deciduous forest|wooded area|garique|caatinga|grove|mallee scrub|mulga scrub|mott|pine grove|coniferous forest|reforested area owl:Class MONDO:0019198 biolink:NamedThing sympathetic ophthalmia Sympathetic ophthalmia (SO) is a bilateral granulomatous anterior uveitis usually occurring within the three months following trauma or a surgical procedure involving one eye. tmpaxzxjjyw_mondo_relaxed.owl sympathetic ophthalmia|sympathetic uveitis ICD9:360.11|Orphanet:79098|EFO:1001205|UMLS:C0029077|SCTID:75315001|ICD10:H44.1|ICD10:H44.13|DOID:12029|MedDRA:10042742|MESH:D009879 owl:Class MONDO:0036501 biolink:NamedThing refractory malignant neoplasm A malignant neoplasm that does not respond to treatment. tmpaxzxjjyw_mondo_relaxed.owl resistant cancer|clinical resistance|refractory malignant neoplasm|refractory cancer UMLS:C0677936|NCIT:C120186 owl:Class MONDO:0054849 biolink:NamedThing inflammatory bowel disease 29 tmpaxzxjjyw_mondo_relaxed.owl inflammatory bowel disease 29|IBD29 OMIM:618077 owl:Class MONDO:0011352 biolink:NamedThing neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia UMLS:C1863649|OMIM:603641|MESH:C566352 owl:Class MONDO:0011309 biolink:NamedThing familial gestational hyperthyroidism tmpaxzxjjyw_mondo_relaxed.owl hyperthyroidism, familial gestational ICD10:E05.8|SCTID:703309000|ICD9:648.10|MESH:C566384|UMLS:C1863959|ICD9:242.80|OMIM:603373|Orphanet:99819 owl:Class MONDO:0019270 biolink:NamedThing erythrokeratoderma tmpaxzxjjyw_mondo_relaxed.owl ICD9:757.39|MedDRA:10015280|SCTID:254215005|Orphanet:79355 owl:Class MONDO:0003610 biolink:NamedThing rete ovarii cystadenoma An exceptionally rare cystadenoma that arises from the rete ovarii. tmpaxzxjjyw_mondo_relaxed.owl rete ovarii cystadenoma UMLS:C1514907|DOID:5725|NCIT:C40019 owl:Class MONDO:0010480 biolink:NamedThing anemia, nonspherocytic hemolytic, due to G6PD deficiency tmpaxzxjjyw_mondo_relaxed.owl anemia, nonspherocytic hemolytic, due to G6PD deficiency OMIM:300908|MESH:C567533|UMLS:C2720289 owl:Class MONDO:0018626 biolink:NamedThing paratyphoid fever A condition resembling typhoid fever that is caused by infection by Salmonella enterica serovar Parathyphi. tmpaxzxjjyw_mondo_relaxed.owl paratyphoid fever A|paratyphoid|paratyphoid A fever|paratyphoid B fever|paratyphoid fever B|paratyphoid fever C|paratyphoid c|paratyphoid b|paratyphoid a|paratyphoid C fever ICD10:A01.1|UMLS:C0343376|ICD9:002.2|ICD10:A01.2|UMLS:C0030528|ICD9:002.9|UMLS:C0343375|DOID:3055|MESH:D010284|EFO:0007420|UMLS:C0343377|ICD10:A01.4|SCTID:51254007|ICD9:002.1|NCIT:C34897|Orphanet:443227|ICD9:002.3|ICD10:A01.3 owl:Class MONDO:0003288 biolink:NamedThing bizarre leiomyoma A morphologic variant of leiomyoma characterized by the presence of pleomorphic muscle cells with bizarre hyperchromatic nuclei and eosinophilic cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl Symplastic leiomyoma|bizarre leiomyoma|pleomorphic leiomyoma|atypical leiomyoma UMLS:C0334478|DOID:5127|NCIT:C4257|ICDO:8893/0 owl:Class UBERON:0001554 biolink:NamedThing skin of hip tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020365 biolink:NamedThing congenital hereditary endothelial dystrophy type I Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision. tmpaxzxjjyw_mondo_relaxed.owl CHED1|autosomal dominant congenital hereditary endothelial dystrophy|autosomal dominant CHED|congenital hereditary endothelial dystrophy type 1|CHEDI ICD10:H18.5|Orphanet:98975|SCTID:416633008 owl:Class MONDO:0008797 biolink:NamedThing anodontia Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth. tmpaxzxjjyw_mondo_relaxed.owl teeth, permanent, absence of|absence of permanent teeth|total anodontia of permanent and deciduous teeth|complete absence of teeth|anodontia of permanent dentition|developmental absence of tooth DOID:13714|GARD:0005818|ICD9:520.0|OMIM:206780|ICD10:K00.0|MESH:D000848|MedDRA:10002583|Orphanet:99797|SCTID:16958000 https://rarediseases.info.nih.gov/diseases/5818/anodontia owl:Class GO:0080154 biolink:NamedThing regulation of fertilization Any process that modulates the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070564 biolink:NamedThing positive regulation of vitamin D receptor signaling pathway Any process that activates or increases the frequency, rate or extent of vitamin D receptor signaling pathway activity. tmpaxzxjjyw_mondo_relaxed.owl stimulation of vitamin D receptor signaling pathway|positive regulation of VDR signaling pathway|activation of vitamin D receptor signaling pathway|up regulation of vitamin D receptor signaling pathway|up-regulation of vitamin D receptor signaling pathway|positive regulation of vitamin D receptor signalling pathway|upregulation of vitamin D receptor signaling pathway owl:Class MONDO:0012955 biolink:NamedThing lung cancer susceptibility 4 tmpaxzxjjyw_mondo_relaxed.owl lung cancer susceptibility 4|LNCR4 UMLS:C2675479|OMIM:612593 owl:Class UBERON:0002200 biolink:NamedThing vasculature of head tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035036 biolink:NamedThing naris epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:48407 biolink:NamedThing antiparkinson drug A drug used in the treatment of Parkinson's disease. tmpaxzxjjyw_mondo_relaxed.owl antiparkinson agent owl:Class MONDO:0001496 biolink:NamedThing male genital organ stricture tmpaxzxjjyw_mondo_relaxed.owl stricture of male genital organs ICD9:608.85|DOID:12333|SCTID:198064007 owl:Class MONDO:0010836 biolink:NamedThing nanophthalmos 1 tmpaxzxjjyw_mondo_relaxed.owl microphthalmos, simple, autosomal dominant|nanophthalmos with high hyperopia and angle-closure glaucoma|nanophthalmos 1|NNO1|nanophthalmos, autosomal dominant|Nanophthalmia 1 UMLS:C1838502|Orphanet:35612|OMIM:600165|MESH:C563983 owl:Class MONDO:0016560 biolink:NamedThing ptosis-syndactyly-learning difficulties syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201643|Orphanet:238766 owl:Class MONDO:0013359 biolink:NamedThing familial hyperaldosteronism type III Familial hyperaldosteronism type III (FH-III) is a rare heritable form of primary aldosteronism (PA) that is characterized by early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, overproduction of 18-oxocortisol and 18-hydroxycortisol, and profound hypokalemia. tmpaxzxjjyw_mondo_relaxed.owl hyperaldosteronism, familial, type 3|FH-III|FH 3|FH III|FH3|familial hyperaldosteronism type 3|hyperaldosteronism, familial, type III|HALD3 ICD10:E26.0|UMLS:C3838758|SCTID:703234002|Orphanet:251274|OMIM:613677|GARD:0012362|UMLS:C3150933 owl:Class HGNC:775 biolink:NamedThing SERPINC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015249 biolink:NamedThing mitral atresia disorder A congenital heart defect characterized by the complete atresia of the mitral valve. tmpaxzxjjyw_mondo_relaxed.owl mitral atresia|congenital atresia of mitral valve|congenital mitral valve atresia|mitral valve atresia NCIT:C98992|Orphanet:1205|SCTID:23063005|ICD10:Q23.2|GARD:0003685|HP:0011560 owl:Class MONDO:0005655 biolink:NamedThing ascaridiasis Infection with nematodes of the genus ascaridia. This condition usually occurs in fowl, often manifesting diarrhea. tmpaxzxjjyw_mondo_relaxed.owl infection by Ascaridia|Ascaridia caused disease or disorder|Ascaridia disease or disorder|Ascaridia infectious disease|ascaridiosis|infection caused by Ascaridia EFO:0007155|MESH:D001198|UMLS:C0003952|DOID:3108|SCTID:76160002|ICD10:B77|SCTID:2435008 owl:Class MONDO:0005993 biolink:NamedThing Trichomonas vaginitis urogenital infection A sexually transmitted parasitic infection caused by Trichomonas vaginalis. Symptoms include vaginal discharge, vaginal odor, vaginal itching, and discomfort during intercourse. tmpaxzxjjyw_mondo_relaxed.owl Trichomonas vaginalis disease of genitourinary system|Trichomonas vaginalis trichomoniasis|urogenital infection caused by Trichomonas vaginalis|urogenital infection by Trichomonas vaginalis|Trichomonas vaginitis|Trichomonas vaginalis caused disease of genitourinary system|urogenital Trichomonas|urogenital trichomoniasis ICD10:A59.0|MESH:D014247|ICD10:A59.00|DOID:0050269|EFO:0007521|ICD9:131.09|NCIT:C35083|ICD9:131.00|SCTID:35089004 owl:Class MONDO:0010070 biolink:NamedThing brachyolmia type 1, Hobaek type tmpaxzxjjyw_mondo_relaxed.owl brachyolmia type 1, Hobaek type|spondylodysplasia with Pure brachyolmia|BCYM1A|brachyolmia, recessive type of Hobaek Orphanet:93301|UMLS:C1849055|OMIM:271530|MESH:C537099 owl:Class MONDO:0001388 biolink:NamedThing glans penis cancer A malignant neoplasm involving the glans penis. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of glans penis|malignant tumour of glans penis|malignant tumor of glans penis|malignant glans penis neoplasm|cancer of glans penis|glans penis cancer SCTID:363451005|ICD9:187.2|UMLS:C0153599|DOID:11839|ICD10:C60.1 owl:Class MONDO:0007975 biolink:NamedThing meralgia paraesthetica, familial tmpaxzxjjyw_mondo_relaxed.owl meralgia paraesthetica, familial MESH:C563590|UMLS:C1835026|OMIM:156220 owl:Class MONDO:0016692 biolink:NamedThing pilomyxoid astrocytoma An astrocytic tumor of uncertain relation to pilocytic astrocytoma. It occurs predominantly in infants and young children. It is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. The clinical course is usually aggressive. tmpaxzxjjyw_mondo_relaxed.owl PMA ONCOTREE:PMA|DOID:4845|Orphanet:251615|UMLS:C1519086|ICD10:C71.9|NCIT:C40315|ICDO:9425/3 owl:Class GO:0002367 biolink:NamedThing cytokine production involved in immune response The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus contributing to an immune response, resulting in an increase in its intracellular or extracellular levels. tmpaxzxjjyw_mondo_relaxed.owl cytokine secretion during immune response|cytokine biosynthetic process involved in immune response|cytokine production during immune response|cytokine secretion involved in immune response owl:Class FOODON:03420295 biolink:NamedThing fruit seed (anatomical part) The part of a flowering plant that typically contains the embryo with its protective coat and stored food and that can develop into a new plant under the proper conditions; fertilised and mature ovule (Source: Webster's). Seeds and fruits commonly called seeds include: grain, kernel, berry, ear, corn, nut. (Source: Webster's Thesaurus). tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03420110 biolink:NamedThing peel, core or seed tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0086065 biolink:NamedThing cell communication involved in cardiac conduction Any process that mediates interactions between a cell and its surroundings that contributes to the process of cardiac conduction. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019660 biolink:NamedThing Pfeiffer syndrome type 2 Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206534|ICD10:Q87.0|Orphanet:93259 owl:Class MONDO:0007043 biolink:NamedThing Pfeiffer syndrome Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. tmpaxzxjjyw_mondo_relaxed.owl acrocephalosyndactylia type V|craniofacial-skeletal-Dermatologic dysplasia|Pfeiffer type acrocephalosyndactyly|acrocephalosyndactyly type 5|Noack syndrome|acrocephalosyndactyly, type 5|type V Acrocephalosyndactyly|ACS5|Pfeiffer syndrome|acrocephalosyndactyly type V|ACS 5 ICD10:Q87.0|OMIM:101600|DOID:14705|SCTID:70410008|MESH:D000168|NCIT:C99100|GARD:0007380|Orphanet:710|UMLS:C0220658 https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome owl:Class MONDO:0005708 biolink:NamedThing Colorado tick fever A febrile illness characterized by chills, aches, vomiting, leukopenia, and sometimes encephalitis. It is caused by the colorado tick fever virus, a reovirus transmitted by the tick Dermacentor andersoni. tmpaxzxjjyw_mondo_relaxed.owl Colorado tick fever virus disease or disorder|Colorado tick encephalitis|Mountain tick fever|Tick fever, American mountain|Colorado tick fever virus infectious disease|Colorado tick fever virus caused disease or disorder|Colorado tick-borne disease|American mountain fever|Mountain fever UMLS:C0009400|DOID:4885|MedDRA:10010022|ICD9:066.1|SCTID:6452009|Orphanet:83595|MESH:D003121|ICD10:A93.2|EFO:0007213 Editor note: we follow Orphanet in classifying as enphalitis, but this is not always a feature owl:Class UBERON:0015717 biolink:NamedThing smooth muscle tissue layer of ejaculatory duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043875 biolink:NamedThing tumor lysis syndrome A condition of metabolic abnormalities that result from a spontaneous or therapy-related cytolysis of tumor cells. Tumor lysis syndrome typically occurs in aggressive, rapidly proliferating lymphoproliferative disorders. Burkitt lymphoma and T cell acute lymphoblastic leukemia are commonly associated with this syndrome. Metabolic abnormalities include hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia and may result in renal failure, multiple organ failure, and death. tmpaxzxjjyw_mondo_relaxed.owl tumour lysis syndrome|tumour lysis syndromes|syndrome, tumour lysis|tumor lysis syndromes|syndromes, tumour lysis|tumor lysis syndrome|syndromes, tumor lysis|syndrome, tumor lysis EFO:1001479|MESH:D015275|SCTID:277605001|UMLS:C0041364|NCIT:C3425 owl:Class GO:0008037 biolink:NamedThing cell recognition The process in which a cell in an organism interprets its surroundings. tmpaxzxjjyw_mondo_relaxed.owl recognition of surroundings by cell owl:Class MONDO:0004854 biolink:NamedThing ophthalmia neonatorum Inflammation of the conjunctiva in a newborn due to chemical or infectious causes. Aseptic conjunctivitis is often related to the use of prophylactic medications for infectious conjunctivitis. Septic conjunctivitis is related to perinatal exposure to microorganisms. tmpaxzxjjyw_mondo_relaxed.owl gonococcal conjunctivitis (neonatorum)|neonatal conjunctivitis|gonococcal ophthalmia neonatorum SCTID:34298002|NCIT:C116815|DOID:9699|MESH:D009878|UMLS:C0029076|ICD10:P39.1|ICD9:771.6 owl:Class MONDO:0020390 biolink:NamedThing pulmonary artery coming from patent ductus arteriosus tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q25.7|Orphanet:99049 owl:Class MONDO:0015239 biolink:NamedThing abnormal origin of the pulmonary artery tmpaxzxjjyw_mondo_relaxed.owl Orphanet:1138|ICD10:Q25.7|SCTID:68092007 owl:Class CHEBI:33780 biolink:NamedThing beryllium molecular entity tmpaxzxjjyw_mondo_relaxed.owl beryllium compounds|beryllium molecular entities owl:Class MONDO:0003964 biolink:NamedThing myositis ossificans A disorder characterized by non-neoplastic bone formation in soft tissues. It usually follows blunt trauma and bleeding in the deep soft tissues. tmpaxzxjjyw_mondo_relaxed.owl progressive myositis ossificans|ossification - muscle|fibrodysplasia ossificans progressiva|Myisitis ossificans|myositis ossificans progressiva|FOP|progressive ossifying myositis DOID:668|NCIT:C3253|MESH:D009221|UMLS:C0027122 owl:Class MONDO:0010121 biolink:NamedThing thrombocytopenia-absent radius syndrome Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia. tmpaxzxjjyw_mondo_relaxed.owl thrombocytopenia-absent radius syndrome|Tar syndrome|thrombocytopenia absent radius syndrome|thrombocytopenia absent radii|absent radii and thrombocytopenia|TAR syndrome|radial aplasia-thrombocytopenia syndrome|chromosome 1Q21.1 deletion syndrome, 200-Kb|thrombocytopenia with absent radii (TAR) syndrome|TAR Orphanet:3320|OMIM:274000|UMLS:C0175703|ICD10:Q87.2|NCIT:C99038|MESH:C536940|GARD:0005116|MedDRA:10071719|DOID:14699|SCTID:85589009|ICD9:759.89 owl:Class CL:1000444 biolink:NamedThing mesothelial cell of anterior chamber of eye A mesothelial cell that is part of the anterior chamber of eyeball. tmpaxzxjjyw_mondo_relaxed.owl FMA:70615 cell owl:Class MONDO:0007818 biolink:NamedThing Hyper-IgE recurrent infection syndrome 1 A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome. tmpaxzxjjyw_mondo_relaxed.owl AD hyperimmunoglobulin E syndrome|hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant|STAT3 deficiency|autosomal dominant hyper IgE syndrome|hyper-IgE syndrome, autosomal dominant|AD-HIES|hyperimmunoglobulin E-recurrent infection syndrome|autosomal dominant hyper-IgE syndrome|immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist|JOB syndrome|hyper Ig E syndrome, autosomal dominant|HIES autosomal dominant|Buckley syndrome|autosomal dominant HIES|hyper-IgE recurrent infection syndrome|Job syndrome autosomal dominant|hyperimmunoglobulin E syndrome type 1|autosomal dominant hyperimmunoglobulin E syndrome|hyper-IgE recurrent infection syndrome, autosomal dominant|Job's syndrome|HIES, autosomal dominant OMIM:147060|SCTID:50926003|NCIT:C126342|Orphanet:2314|MESH:C564135|GARD:0006800|ICD10:D82.4|EFO:0003775|UMLS:C1840265|DOID:3261|MESH:C567925|OMIM:146840 https://rarediseases.info.nih.gov/diseases/6800/autosomal-dominant-hyper-ige-syndrome owl:Class MONDO:0014500 biolink:NamedThing atrial conduction disease Atrial conduction disorder is a form of heart disease in which the conduction of the cardiac atrium is disrupted. tmpaxzxjjyw_mondo_relaxed.owl CARDIAC conduction disease with or without dilated cardiomyopathy|CCDD|familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease Orphanet:436242|EFO:0005304|UMLS:C4015285|ICD10:I45.8|OMIM:616117 owl:Class HGNC:17642 biolink:NamedThing DCLRE1C tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015146 biolink:NamedThing manus hair tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008870 biolink:NamedThing bird headed-dwarfism, Montreal type Microcephalic primordial dwarfism, Montreal type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970. tmpaxzxjjyw_mondo_relaxed.owl Bird-headed dwarfism, Montreal type|microcephalic primordial dwarfism, Montreal type|premature senility, premature graying and loss of scalp hair and wrinkled skin of the palms|Bird-headed dwarfism with features of premature senility Orphanet:2617|OMIM:210700|MESH:C535448|ICD10:Q87.1|GARD:0000895|UMLS:C1859468 owl:Class MONDO:0033566 biolink:NamedThing combined oxidative phosphorylation deficiency 48 tmpaxzxjjyw_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48|COXPD48 OMIM:619012 owl:Class MONDO:0011641 biolink:NamedThing baculum, congenital absence of tmpaxzxjjyw_mondo_relaxed.owl baculum, congenital absence of|Os penis, congenital absence of OMIM:606174 owl:Class MONDO:0019621 biolink:NamedThing chronic pneumonitis of infancy Chronic pneumonitis of infancy is a rare pediatric form of interstitial lung disease (ILD). tmpaxzxjjyw_mondo_relaxed.owl CPI SCTID:708026002|UMLS:C3872848|ICD10:J84.0|UMLS:CN206472|Orphanet:91359 owl:Class GO:0060610 biolink:NamedThing mesenchymal cell differentiation involved in mammary gland development The process in which a relatively unspecialized cell acquires specialized features of a mammary gland mesenchymal cell. Mammary gland mesenchymal cells form a loosely connected network of cells that surround the mammary ducts. tmpaxzxjjyw_mondo_relaxed.owl mammary gland mesenchymal cell differentiation owl:Class MONDO:0032694 biolink:NamedThing microcephaly 25, primary, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl MCPH25|MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE OMIM:618351 owl:Class MONDO:0011432 biolink:NamedThing blepharophimosis - intellectual disability syndrome, Verloes type tmpaxzxjjyw_mondo_relaxed.owl blepharophimosis-mental retardation syndrome, Verloes type|blepharophimosis with facial and genital anomalies and intellectual disability|BMRS, Verloes type|BMRS type V|blepharophimosis-intellectual disability syndrome, Verloes type|blepharophimosis with facial and genital anomalies and mental retardation|blepharophimosis-intellectual disability syndrome type V MESH:C565797|Orphanet:293725|OMIM:604314|UMLS:C1858538 owl:Class UBERON:0004996 biolink:NamedThing mucosa of cardia of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030054 biolink:NamedThing developmental and epileptic encephalopathy, 86 tmpaxzxjjyw_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86|EIEE86|DEE86|epileptic encephalopathy, early infantile, 86 OMIM:618910 owl:Class MONDO:0013798 biolink:NamedThing chromosome 16q22 deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl chromosome 16q22 deletion syndrome DOID:0060401|UMLS:C3281152|OMIM:614541 owl:Class MONDO:0001637 biolink:NamedThing cicatricial entropion tmpaxzxjjyw_mondo_relaxed.owl SCTID:67383002|UMLS:C0155191|ICD9:374.04|DOID:13113 owl:Class MONDO:0003593 biolink:NamedThing breast liposarcoma A malignant adipose tissue neoplasm of the breast. tmpaxzxjjyw_mondo_relaxed.owl liposarcoma of breast|liposarcoma of the breast|breast liposarcoma DOID:5701|NCIT:C5187|UMLS:C1332632 owl:Class CHEBI:35134 biolink:NamedThing metalloprotein tmpaxzxjjyw_mondo_relaxed.owl metalloproteins|metalloproteine|metalloprotein owl:Class MONDO:0018483 biolink:NamedThing secondary pulmonary alveolar proteinosis A form of pulmonary alveolar proteinosis that arises in association with hematological disorders, medications, certain infections, acute silicosis, and immunodeficiency. tmpaxzxjjyw_mondo_relaxed.owl secondary PAP|SPAP UMLS:C3873302|SCTID:707510005|ICD10:J84.0|Orphanet:420259 Editor note: TODO DP for secondary diseases owl:Class MONDO:0023111 biolink:NamedThing familial capillaro-venous leptomeningeal angiomatosis tmpaxzxjjyw_mondo_relaxed.owl GARD:0009423|UMLS:C2931262|MESH:C536609 https://rarediseases.info.nih.gov/diseases/9423/familial-capillaro-venous-leptomeningeal-angiomatosis owl:Class GO:0030936 biolink:NamedThing transmembrane collagen trimer Any collagen trimer that passes through a lipid bilayer membrane. tmpaxzxjjyw_mondo_relaxed.owl MACIT owl:Class UBERON:0004252 biolink:NamedThing hindlimb stylopod muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:713 biolink:NamedThing Actinobacillus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:1736960|PMID:15143001 ncbi_taxonomy owl:Class NCBITaxon:712 biolink:NamedThing Pasteurellaceae tmpaxzxjjyw_mondo_relaxed.owl PMID:15388716|PMID:15280320|PMID:10843050|PMID:2223605|PMID:17220461|PMID:29923825|GC_ID:11 ncbi_taxonomy owl:Class HP:0005262 biolink:NamedThing Abnormality of the synovia tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025225 peter 2008-03-26T04:27:00Z human_phenotype owl:Class CHEBI:51446 biolink:NamedThing organic divalent group tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006833 biolink:NamedThing lumen of trachea tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008811 biolink:NamedThing intromittent organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044793 biolink:NamedThing spitz nevus A benign, acquired or congenital, usually single skin lesion. It can occur on any area of the body, but most commonly occurs on the face of children and the thighs of young females. It is characterized by a proliferation of large spindle, oval, or large epithelioid melanocytes in the dermal-epidermal junction. The melanocytic proliferation subsequently extends into the dermis. tmpaxzxjjyw_mondo_relaxed.owl spitz nevus|juvenile nevus|benign juvenile melanoma|spitz nevi|spitz naevus|spindle and/ or epithelioid cell Nevus GARD:0010412|ICDO:8770/0|NCIT:C27007 owl:Class GO:1901401 biolink:NamedThing regulation of tetrapyrrole metabolic process Any process that modulates the frequency, rate or extent of tetrapyrrole metabolic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of tetrapyrrole metabolism owl:Class NCBITaxon:34504 biolink:NamedThing Paragonimus westermani tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033537 biolink:NamedThing combined oxidative phosphorylation deficiency 47 tmpaxzxjjyw_mondo_relaxed.owl COXPD47|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 OMIM:618958 owl:Class MONDO:0008328 biolink:NamedThing glaucoma 1, open angle, P tmpaxzxjjyw_mondo_relaxed.owl glaucoma 1, open angle, P|glaucoma 1, open angle, type P|GLC1P OMIM:177700|UMLS:C3888338 owl:Class MONDO:0019738 biolink:NamedThing atypical hemolytic-uremic syndrome with H factor anomaly tmpaxzxjjyw_mondo_relaxed.owl aHUS with H factor anomaly|hemolytic-uremic syndrome without diarrhea with H factor anomaly|atypical HUS with H factor anomaly|D-HUS with H factor anomaly OMIM:609814|OMIM:235400|UMLS:CN206650|ICD10:D58.8|Orphanet:93579 owl:Class MONDO:0013192 biolink:NamedThing spondyloarthropathy, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl SPDA3|spondyloarthropathy, susceptibility to, 3 OMIM:613238|DOID:0080605 owl:Class HGNC:1856 biolink:NamedThing CENPE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004059 biolink:NamedThing dentin sensitivity Pain or discomfort caused by exposure of the dentin layer of tooth to thermal, tactile, or other stimuli. tmpaxzxjjyw_mondo_relaxed.owl sensitive dentin MESH:D003807|UMLS:C0011432|DOID:698|NCIT:C50778|SCTID:13468005 owl:Class MONDO:0002220 biolink:NamedThing tooth hard tissue disease tmpaxzxjjyw_mondo_relaxed.owl teeth hard tissue diseases|teeth hard tissue disease|disorder of hard tissues of teeth ICD10:K03.8|SCTID:46557008|ICD10:K03.89|ICD9:521.8|UMLS:C0155926|ICD9:521.89|ICD10:K03|DOID:214 owl:Class MONDO:0003468 biolink:NamedThing biphasic synovial sarcoma A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component. tmpaxzxjjyw_mondo_relaxed.owl synovial sarcoma, biphasic (morphologic abnormality)|biphasic sarcoma of the synovium|synovial sarcoma, biphasic|biphasic sarcoma of synovium DOID:5492|ICDO:9043/3|NCIT:C4279|UMLS:C0334507 owl:Class GO:1901363 biolink:NamedThing heterocyclic compound binding Binding to heterocyclic compound. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012218 biolink:NamedThing dandy-walker malformation with occipital cephalocele, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl Dandy-Walker malformation with occipital cephalocele, autosomal dominant|ADDWOC OMIM:609222|MESH:C567185|UMLS:C2674987 owl:Class CHEBI:65256 biolink:NamedThing antimicrobial food preservative A food preservative which prevents decomposition of food by preventing the growth of fungi or bacteria. In European countries, E-numbers for permitted food preservatives are from E200 to E299, divided into sorbates (E200-209), benzoates (E210-219), sulfites (E220-229), phenols and formates (E230-239), nitrates (E240-259), acetates (E260-269), lactates (E270-279), propionates (E280-289) and others (E290-299). tmpaxzxjjyw_mondo_relaxed.owl antimicrobial preservative|antimicrobial preservatives|antimicrobial food preservatives owl:Class MONDO:0100483 biolink:NamedThing totally drug-resistant tuberculosis A type of drug-resistant tuberculosis that is resistant to all first- and second-line antitubercular drugs tested (isoniazid, rifampicin, streptomycin, ethambutol, pyrazinamide, ethionamide, para-aminosalicylic acid, cycloserine, ofloxacin, amikacin, ciprofloxacin, capreomycin, kanamycin). tmpaxzxjjyw_mondo_relaxed.owl TDR-TB http://orcid.org/0000-0001-5208-3432 owl:Class CHEBI:142163 biolink:NamedThing 24G7 epitope An antigenic epitope recognized by an anti-bilirubin monoclonal antibody designated 24G7. A substructure of bilirubin IXalpha, it is the region containing the oxo group at C-1, the methyl group at C-2, C-(4, 5, 6, 9), and N-21 and -22. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10301 biolink:NamedThing RPL11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032733 biolink:NamedThing global developmental delay, progressive ataxia, and elevated glutamine tmpaxzxjjyw_mondo_relaxed.owl GDPAG|GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE|Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia OMIM:618412 owl:Class MONDO:0012638 biolink:NamedThing microphthalmia-brain atrophy syndrome Microphthalmia-brain atrophy (MOBA) syndrome is a rare genetic neurodegenerative disorder characterized by congenital microphthalmia, sunken eyes, blindness, microcephaly, severe intellectual disability, progressive spasticity, and seizures. Psychomotor development is normal in the first 6-8 months of life and thereafter declines rapidly and continuously. Brain MRI reveals progressive and extensive degenerative changes, especially cortex, cerebellum, brainstem, and corpus callosum atrophy, with complete loss of cerebral white matter. tmpaxzxjjyw_mondo_relaxed.owl MOBA|syndromic microphthalmia type 10|MOBA syndrome|microphthalmia and brain atrophy|MCOPS10|microphthalmia, syndromic 10|microphthalmia syndromic 10 Orphanet:77299|MESH:C566985|OMIM:611222|SCTID:720010009|ICD10:Q11.2|GARD:0009292 https://rarediseases.info.nih.gov/diseases/9292/microphthalmia-syndromic-10 owl:Class MONDO:0020356 biolink:NamedThing coloboma of iris A congenital or acquired defect characterized by the presence of a hole in or adjacent to the iris. tmpaxzxjjyw_mondo_relaxed.owl coloboma of the iris|coloboma of iris|coloboma of iris (disease) coloboma of iris (disease) Orphanet:98944|HP:0000612|ICD10:Q13.0|OMIM:120200|GARD:0001434|MedDRA:10052642|SCTID:9446007|NCIT:C98879 owl:Class MONDO:0010374 biolink:NamedThing retinitis pigmentosa 34 A retinitis pigmentosa that has material basis in variation in the chromosome region Xq28. tmpaxzxjjyw_mondo_relaxed.owl RP 34|retinitis pigmentosa type 34|RP34|retinitis pigmentosa 34 ICD10:H35.5|DOID:0110417|OMIM:300605|UMLS:C1845104|GARD:0010390|MESH:C564475 https://rarediseases.info.nih.gov/diseases/10390/retinitis-pigmentosa-34 owl:Class HGNC:21043 biolink:NamedThing PITPNM3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010336 biolink:NamedThing orofaciodigital syndrome VIII Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl oral-Facial-digital syndrome with hypoplastic Epiglottis|OFD8|orofaciodigital syndrome type VIII|orofaciodigital syndrome type 8|orofaciodigital syndrome VIII|oral-facial-digital syndrome type 8|oral-Facial-digital syndrome, type 8|OFD syndrome 8|oral facial digital syndrome 8|orofaciodigital syndrome 8|oral-facial-digital syndrome, Edwards type|Ofds 8|oral facial digital syndrome type 8|orofaciodigital syndrome, Edwards type GARD:0004060|SCTID:722106001|DOID:0060378|MESH:C557820|ICD10:Q87.0|OMIM:300484|Orphanet:2755 owl:Class MONDO:0006815 biolink:NamedThing jejunal cancer A malignant neoplasm involving the jejunum. tmpaxzxjjyw_mondo_relaxed.owl jejunum cancer|malignant tumor of jejunum|malignant neoplasm of jejunum|cancer of jejunum|malignant jejunum neoplasm SCTID:363404008|ICD9:152.1|ICD10:C17.1|UMLS:C0153427|MESH:D007580|EFO:1000998|DOID:13499|MedDRA:10023166 owl:Class MONDO:0010657 biolink:NamedThing methylmalonic acidemia with homocystinuria, type cblX tmpaxzxjjyw_mondo_relaxed.owl combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX|intellectual disability, X-linked 3|methylmalonic acidemia and HOMOCYSTEINEMIA, cblX type|methylmalonic aciduria with homocystinuria, type cblX|mental retardation, X-linked 3|methylmalonic acidemia and homocysteinemia type cblX GARD:0013137|OMIM:309541|Orphanet:369962|UMLS:C0796208|MESH:C563136|ICD10:E71.1 owl:Class MONDO:0023571 biolink:NamedThing Kozlowski Rafinski Klicharska syndrome tmpaxzxjjyw_mondo_relaxed.owl metaphyseal and epiphyseal dysplasia with unusual facies and cataract UMLS:C2931513|MESH:C537509|GARD:0003140 https://rarediseases.info.nih.gov/diseases/3140/kozlowski-rafinski-klicharska-syndrome owl:Class GO:0017119 biolink:NamedThing Golgi transport complex A multisubunit tethering complex of the CATCHR family (complexes associated with tethering containing helical rods) that has a role in tethering vesicles to the Golgi prior to fusion. Composed of 8 subunits COG1-8. tmpaxzxjjyw_mondo_relaxed.owl conserved oligomeric Golgi complex|COG complex|Sec34/35 complex owl:Class GO:0099023 biolink:NamedThing vesicle tethering complex Any protein complex that plays a role in vesicle tethering. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8725 biolink:NamedThing PCK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019811 biolink:NamedThing tricuspid valve agenesis tmpaxzxjjyw_mondo_relaxed.owl congenital unguarded tricuspid orifice Orphanet:95457|ICD10:Q22.4 owl:Class MONDO:0022055 biolink:NamedThing Calabro syndrome tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis, limb abnormalities, brevicollis, micrognathia, pulmonary stenosis, and genital defects MESH:C537960|GARD:0008584|UMLS:C0796276 https://rarediseases.info.nih.gov/diseases/8584/calabro-syndrome owl:Class CHEBI:33893 biolink:NamedThing reagent A substance used in a chemical reaction to detect, measure, examine, or produce other substances. tmpaxzxjjyw_mondo_relaxed.owl reactif|reagents|reactivo|reagent owl:Class MONDO:0020743 biolink:NamedThing mixed phenotype acute leukemia An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage. tmpaxzxjjyw_mondo_relaxed.owl MPAL|mixed phenotype acute leukemia NCIT:C82179|ICD10:C95.0|MedDRA:10067399|Orphanet:530995 owl:Class MONDO:0019460 biolink:NamedThing acute leukemia of ambiguous lineage An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl mixed lineage acute leukemia|biphenotypic acute leukemia|acute leukemia of indeterminate lineage|hybrid acute leukemia|AML with lymphoid markers|mixed phenotype acute leukemia|ALL with myeloid markers|acute leukemia of ambiguous lineage|acute leukemia of undetermined lineage|BAL UMLS:C0023464|ICD10:C95.0|SCTID:721308005|Orphanet:86851|MedDRA:10067399|MESH:D015456|GARD:0008638|OMIM:601626|UMLS:C1301357|NCIT:C7464 owl:Class MONDO:0032838 biolink:NamedThing neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES|NEDMABA OMIM:618622 owl:Class NCBITaxon:2560319 biolink:NamedThing Avian orthoavulavirus 1 tmpaxzxjjyw_mondo_relaxed.owl Avian paramyxovirus type 1|Avian Paramyxovirus Serotype I|Avian paramyxovirus type-1|Avian avulavirus 1|Newcastle disease virus|NDV|Newcastle disease virus NDV|avian paramyxovirus 1 GC_ID:1 NCBITaxon:11176 ncbi_taxonomy owl:Class NCBITaxon:2560194 biolink:NamedThing Orthoavulavirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:7128 biolink:NamedThing MLH3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008230 biolink:NamedThing tibialis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005778 biolink:NamedThing haemonchiasis Infection with nematodes of the genus haemonchus, characterized by digestive abnormalities and anemia similar to that from hookworm infestation. tmpaxzxjjyw_mondo_relaxed.owl EFO:0007293|UMLS:C0018477|DOID:3332|MESH:D006188 owl:Class NCBITaxon:147537 biolink:NamedThing Saccharomycotina tmpaxzxjjyw_mondo_relaxed.owl true yeasts GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022333 biolink:NamedThing 5-nucleotidase syndrome tmpaxzxjjyw_mondo_relaxed.owl 5'-Nucleotidase syndrome|5'NT syndrome GARD:0008242|MESH:C535321|UMLS:C2930876 https://rarediseases.info.nih.gov/diseases/8242/5-nucleotidase-syndrome owl:Class MONDO:0020782 biolink:NamedThing chronic gingivitis Chronic painless inflammation of the gums. It is characterized by erythema and edema of the gums and bleeding while brushing the teeth. tmpaxzxjjyw_mondo_relaxed.owl chronic gingivitis|Chronic gingivitis|Chronic Gingivitis NCIT:C34474|ICD9:523.10|ICD9:523.1|UMLS:C0008684|SCTID:72621003 owl:Class MONDO:0001372 biolink:NamedThing bladder neck cancer A malignant neoplasm involving the neck of urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of urinary bladder neck|cancer of neck of urinary bladder|malignant neck of urinary bladder neoplasm|malignant neoplasm of neck of urinary bladder|neck of urinary bladder cancer|malignant tumor of bladder neck SCTID:188244007|ICD9:188.5|DOID:11809|ICD10:C67.5 owl:Class MONDO:0041154 biolink:NamedThing disorder of neck of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl functional disorder of bladder neck and sphincter mechanism SCTID:236644005 owl:Class OBO:CHR_9606-chr4p16 biolink:NamedThing 4p16 (Human) tmpaxzxjjyw_mondo_relaxed.owl 11300000 0 hg38 owl:Class GO:0070132 biolink:NamedThing regulation of mitochondrial translational initiation Any process that modulates the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl regulation of mitochondrial translation initiation owl:Class MONDO:0043377 biolink:NamedThing juvenile spondyloarthropathy A group of chronic, inflammatory childhood diseases characterized by arthritis and enthesitis. This disorder can affect the axial skeleton in late childhood or young adulthood. tmpaxzxjjyw_mondo_relaxed.owl juvenile Spondyloarthritis|juvenile spondyloarthropathy|JSpA UMLS:C0409676|SCTID:239806000|NCIT:C114347|GARD:0012939 owl:Class MONDO:0018583 biolink:NamedThing human infection by orthopoxvirus tmpaxzxjjyw_mondo_relaxed.owl ICD10:B08.0|Orphanet:438279|UMLS:CN237612 owl:Class MONDO:0021418 biolink:NamedThing polyp of ethmoidal sinus A polyp that involves the ethmoid sinus. tmpaxzxjjyw_mondo_relaxed.owl ethmoidal polyp|polyp of the ethmoidal sinus|ethmoid sinus polyp|ethmoidal sinus polyp|polyp of the ethmoid sinus|polyp of ethmoid sinus SCTID:23966000|NCIT:C3932|UMLS:C0264248|ICD9:471.8 owl:Class MONDO:0006929 biolink:NamedThing Proteus infectious disease Infections with bacteria of the genus proteus. tmpaxzxjjyw_mondo_relaxed.owl infections, Proteus|Proteus disease or disorder|Proteus infectious disease|Proteus infection|infection, Proteus|Proteus caused disease or disorder EFO:1001130|SCTID:186437007|MESH:D011512|UMLS:C0033700 owl:Class MONDO:0017934 biolink:NamedThing aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. tmpaxzxjjyw_mondo_relaxed.owl aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome|aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome ICD10:Q87.0|Orphanet:324540|UMLS:CN204076 owl:Class MONDO:0002859 biolink:NamedThing breast rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the breast. tmpaxzxjjyw_mondo_relaxed.owl rhabdomyosarcoma of the breast|breast rhabdomyosarcoma (disease)|breast rhabdomyosarcoma|rhabdomyosarcoma of breast|rhabdomyosarcoma (disease) of breast UMLS:C1332637|DOID:4060|NCIT:C5190 owl:Class CHEBI:75763 biolink:NamedThing eukaryotic metabolite Any metabolite produced during a metabolic reaction in eukaryotes, the taxon that include members of the fungi, plantae and animalia kingdoms. tmpaxzxjjyw_mondo_relaxed.owl eukaryotic metabolites owl:Class MONDO:0020113 biolink:NamedThing primary acquired red cell aplasia tmpaxzxjjyw_mondo_relaxed.owl red cell aplasia|primary autoimmune red cell aplasia ICD10:D60.0|ICD10:D60.9|ICD10:D60.8|Orphanet:98421|ICD10:D60.1|MedDRA:10038184 owl:Class UBERON:0003918 biolink:NamedThing kidney mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007395 biolink:NamedThing craniofacial-deafness-hand syndrome Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome that can be distinguished from the latter by its imaging findings and distinct facial features. tmpaxzxjjyw_mondo_relaxed.owl Sommer-Young-Wee-Frye syndrome|craniofacial deafness hand syndrome|features of flat facial profile, hypertelorism, hypoplastic nose with slitlike nares, and a sensorineural hearing loss|craniofacial-deafness-hand syndrome|CDHS ICD10:Q87.0|MESH:C536453|DOID:0111336|ICD9:759.89|SCTID:702362004|OMIM:122880|Orphanet:1529|GARD:0001571 https://rarediseases.info.nih.gov/diseases/1571/craniofacial-deafness-hand-syndrome owl:Class GO:0033686 biolink:NamedThing positive regulation of luteinizing hormone secretion Any process that activates or increases the frequency, rate or extent of the regulated release of luteinizing hormone. tmpaxzxjjyw_mondo_relaxed.owl upregulation of luteinizing hormone secretion|activation of luteinizing hormone secretion|up-regulation of luteinizing hormone secretion|up regulation of luteinizing hormone secretion|stimulation of luteinizing hormone secretion owl:Class MONDO:0017112 biolink:NamedThing isolated unilateral hemispheric cerebellar hypoplasia Isolated unilateral hemispheric cerebellar hypoplasia is a rare, non-syndromic cerebellar malformation characterized by loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (i.e. normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal. tmpaxzxjjyw_mondo_relaxed.owl SCTID:766934006|Orphanet:269218|ICD10:Q04.3 owl:Class MONDO:0011433 biolink:NamedThing anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl anemia, congenital hypoplastic, with multiple congenital anomalies/intellectual disability syndrome|anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome MESH:C565796|OMIM:604315|UMLS:C1858537 owl:Class HGNC:13831 biolink:NamedThing WDR11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9701 biolink:NamedThing PURA tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000293 biolink:NamedThing negative regulation of defecation Any process that stops, prevents or reduces the frequency, rate or extent of defecation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002221 biolink:NamedThing urethral urothelial papilloma Papilloma's are benign epithelial neoplasms that produce visible warty projections from epithelial surfaces. Papilloma's of the urethra typically occur just within or on the external meatus. - 2003 tmpaxzxjjyw_mondo_relaxed.owl urethra urothelial papilloma|urethral urothelial papilloma NCIT:C5061|UMLS:C1519826|DOID:2140 owl:Class HGNC:29634 biolink:NamedThing MEGF10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11908 biolink:NamedThing Human T-cell leukemia virus type I tmpaxzxjjyw_mondo_relaxed.owl human T-cell lymphoma/leukemia virus type I HTLV-I|HTLV-I|HTLV-1|human T-cell leukemia virus I|Human T-cell leukemia virus type I HTLV-I|human T cell leukemia virus type 1 HTLV-1|human T-lymphotropic virus type I HTLV-I|Human T-cell lymphotropic virus type 1|Human adult T-cell leukemia virus|Human T cell leukemia virus type 1|Human T-lymphotropic virus 1|Human lymphotropic virus type I|human T cell lymphotropic virus type I HTLV-I|Human T-cell lymphotropic virus 1|Human T-lymphotropic virus type 1|Human T-cell lymphotropic virus type I|Human T-cell leukemia virus-1|human T-lymphotropic virus type 1 HTLV-1|human T-cell leukemia/lymphoma virus type I HTLV-I|human T-cell leukemia/lymphotropic virus type I HTLV-I|human T-cell leukemia virus type 1 HTLV-1|Human T-cell leukemia virus type 1|human T-cell lymphotropic virus type 1, HTLV-1 GC_ID:1 NCBITaxon:28331 ncbi_taxonomy owl:Class NCBITaxon:194440 biolink:NamedThing Primate T-lymphotropic virus 1 tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010606 biolink:NamedThing hernia, anterior diaphragmatic tmpaxzxjjyw_mondo_relaxed.owl hernia, anterior diaphragmatic OMIM:306950|Orphanet:2140|MESH:C564413 owl:Class MONDO:0026727 biolink:NamedThing Shukla-Vernon syndrome tmpaxzxjjyw_mondo_relaxed.owl SHUKLA-VERNON SYNDROME|SHUVER OMIM:301029 owl:Class MONDO:0007305 biolink:NamedThing cervical vertebral dysplasia tmpaxzxjjyw_mondo_relaxed.owl cervical vertebral dysplasia (disease)|cervical vertebral dysplasia cervical vertebral dysplasia (disease) UMLS:C1861693|MESH:C566140|OMIM:118005|HP:0008469 owl:Class MONDO:0010939 biolink:NamedThing low phospholipid associated cholelithiasis Low phospholipid associated cholelithiasis is a rare genetic hepatic disease characterized by cholesterol gallstones and intrahepatic stones developing before the age of 40 years. tmpaxzxjjyw_mondo_relaxed.owl cholelithiasis with ABCB4 gene mutation|gallbladder disease type 1|LPAC|cholelithiasis, Low phospholipid-associated|gallbladder disease 1|ABCB4 gene mutation-associated cholelithiasis|GBD1 Orphanet:69663|OMIM:600803|MedDRA:10068936|UMLS:C2609268|SCTID:715577009 owl:Class HGNC:4118 biolink:NamedThing GALK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071825 biolink:NamedThing protein-lipid complex subunit organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein-lipid complex. tmpaxzxjjyw_mondo_relaxed.owl protein-lipid complex subunit organisation owl:Class MONDO:0044649 biolink:NamedThing omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome tmpaxzxjjyw_mondo_relaxed.owl Gershoni-Baruch syndrome Orphanet:496693 owl:Class HGNC:28163 biolink:NamedThing CCDC28B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19100 biolink:NamedThing IL23R tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33654 biolink:NamedThing alicyclic compound An aliphatic compound having a carbocyclic ring structure which may be saturated or unsaturated, but may not be a benzenoid or other aromatic system. tmpaxzxjjyw_mondo_relaxed.owl alicyclic compounds owl:Class CHEBI:33653 biolink:NamedThing aliphatic compound Any acyclic or cyclic, saturated or unsaturated carbon compound, excluding aromatic compounds. tmpaxzxjjyw_mondo_relaxed.owl aliphatic compounds owl:Class NCBITaxon:118969 biolink:NamedThing Legionellales tmpaxzxjjyw_mondo_relaxed.owl Legionellaceae group GC_ID:11|PMID:16280474 ncbi_taxonomy owl:Class UBERON:0009878 biolink:NamedThing mesopodial skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016467 biolink:NamedThing isotretinoin syndrome Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy. tmpaxzxjjyw_mondo_relaxed.owl Isotretinoin (RoAccutane) embryopathy|Accutane fetal effects of|fetal retinoid syndrome|retinoic acid embryopathy|Acutane embryopathy|Accutane-exposed pregnancies|Isotretinoin teratogen syndrome|Retinoids embryopathy|fetal isotretinoin syndrome|Isotretinoin embryopathy|Isotretinoin fetal effects of Orphanet:2305|NCIT:C98929|MESH:C535670|SCTID:36871005|GARD:0000517|ICD10:Q86.8 owl:Class MONDO:0018969 biolink:NamedThing craniorachischisis Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl cranial rachischisis|craniorachischisis (disease)|craniorachischisis craniorachischisis (disease) ICD9:740.1|NCIT:C98907|SCTID:32219008|UMLS:C0152426|Orphanet:63260|MedDRA:10011321|HP:0030770|GARD:0010504|ICD10:Q00.1 owl:Class MONDO:0017183 biolink:NamedThing hyperinsulinism due to UCP2 deficiency HyHyperinsulism due to UCP2 deficiency (HIUCP2) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic episodes from the neonatal period, a good clinical response to diazoxide and a probable transient nature of the disease with spontaneous resolution. tmpaxzxjjyw_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to UCP2 deficiency UMLS:C4303082|SCTID:721834007|Orphanet:276556|ICD10:E16.1 owl:Class MONDO:0001197 biolink:NamedThing qualitative platelet defect tmpaxzxjjyw_mondo_relaxed.owl qualitative platelet defect|qualitative platelet deficiency SCTID:267532001|ICD10:D69.1|DOID:11125|ICD9:287.1|UMLS:C0235604 owl:Class MONDO:0002245 biolink:NamedThing blood platelet disease Disorders caused by abnormalities in platelet count or function. tmpaxzxjjyw_mondo_relaxed.owl thrombocytopathy|platelet abnormality|platelet disorder SCTID:22716005|NCIT:C131634|MESH:D001791 owl:Class MONDO:0008927 biolink:NamedThing colobomatous optic disc-macular atrophy-chorioretinopathy syndrome tmpaxzxjjyw_mondo_relaxed.owl ODRMD|optic DISC anomalies with retinal and/or macular dystrophy OMIM:212550|Orphanet:435930|MESH:C565876|Orphanet:2542|ICD10:Q14.8|DOID:0080635|UMLS:CN237578 owl:Class MONDO:0000928 biolink:NamedThing eyelid melanoma A melanoma that arises from the upper or lower eyelid. tmpaxzxjjyw_mondo_relaxed.owl melanoma of eyelid|melanoma (disease) of eyelid|malignant melanoma of eyelid|malignant eyelid melanoma|eyelid melanoma|melanoma of the eyelid|malignant melanoma of the eyelid|eyelid melanoma (disease) NCIT:C4358|UMLS:C0339116|ICD9:172.1|DOID:10040|SCTID:231834005 owl:Class MONDO:0001944 biolink:NamedThing mixed malaria A malaria that involves infection with more than one species of Plasmodium at the same time. tmpaxzxjjyw_mondo_relaxed.owl malaria by more than one parasite|malaria fever by more than one parasite UMLS:C0153121|ICD9:084.5|DOID:14325|SCTID:21070001 owl:Class UBERON:0008193 biolink:NamedThing pneumatized bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006142 biolink:NamedThing cervical small cell carcinoma A small cell carcinoma arising from the cervix. tmpaxzxjjyw_mondo_relaxed.owl cervical small cell carcinoma|small cell carcinoma of cervix uteri|small cell carcinoma of the cervix|small cell carcinoma of cervix|cervix small cell carcinoma|small cell carcinoma of uterine cervix|SCCE|cervix uteri small cell carcinoma|uterine cervix small cell carcinoma|small cell carcinoma of the uterine cervix|small cell carcinoma of the cervix uteri|Cervical small cell cancer NCIT:C7982|UMLS:C0279674|EFO:1000171|ONCOTREE:SCCE|DOID:6740 owl:Class MONDO:0012687 biolink:NamedThing familial cavitary optic disc anomaly tmpaxzxjjyw_mondo_relaxed.owl CODA|familial CODA|cavitary optic DISC anomalies Orphanet:464760|OMIM:611543|UMLS:C1969063|MESH:C566924 owl:Class MONDO:0004046 biolink:NamedThing childhood brain meningioma A brain meningioma that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood meningioma of brain|childhood meningioma of the brain|brain pediatric meningioma|pediatric meningioma of brain|pediatric brain meningioma|Brain meningioma|pediatric meningioma of the brain UMLS:C1332949|NCIT:C6253|DOID:6939 owl:Class HP:0007707 biolink:NamedThing Congenital aphakia Absence of the crystalline lens of the eye as a result of a developmental defect. tmpaxzxjjyw_mondo_relaxed.owl Lens agenesis UMLS:C1853230|MSH:C537786 human_phenotype owl:Class MONDO:0020497 biolink:NamedThing Turcot syndrome with polyposis Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99818|UMLS:CN207386|ICD10:D12.6|OMIM:175100 owl:Class CHEBI:37806 biolink:NamedThing penicillanic acid A penam that consists of 3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane bearing a carboxy group at position 2 and having (2S,5R)-configuration. tmpaxzxjjyw_mondo_relaxed.owl penicillanic acid|(2S,5R)-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid|2,2-dimethylpenam-3alpha-carboxylic acid owl:Class HGNC:969 biolink:NamedThing BBS4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015174 biolink:NamedThing autoimmune enteropathy type 3 tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226617|Orphanet:103917|ICD10:K52.8 owl:Class MONDO:0020129 biolink:NamedThing acquired motor neuron disease An instance of motor neuron disease that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired motor neuron disease|acquired anterior horn cell disease Orphanet:98506|UMLS:CN207019 owl:Class NBO:0000388 biolink:NamedThing involuntary movement behavior "Behavior related to movements that occur independent of planning." [NBO:GVG] tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017682 biolink:NamedThing intellectual disability-polydactyly-uncombable hair syndrome Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported. tmpaxzxjjyw_mondo_relaxed.owl Kozlowski-Krajewska syndrome|mental retardation, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair|intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, unusual face, uncombable hair GARD:0003141|ICD10:Q87.2|MESH:C537615|UMLS:C2931547|Orphanet:3082 owl:Class MONDO:0018820 biolink:NamedThing recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy. tmpaxzxjjyw_mondo_relaxed.owl transport and golgi organization protein 2 (TANGO2) deficiency|MECRCN|TANGO2 deficiency|metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration GARD:0013423|OMIM:616878|UMLS:CN776869|Orphanet:480864|UMLS:C4225171 https://rarediseases.info.nih.gov/diseases/13423/tango2-related-metabolic-encephalopathy-and-arrhythmias owl:Class UBERON:0005838 biolink:NamedThing fasciculus of brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051054 biolink:NamedThing positive regulation of DNA metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving DNA. tmpaxzxjjyw_mondo_relaxed.owl upregulation of DNA metabolic process|up regulation of DNA metabolic process|positive regulation of DNA metabolism|activation of DNA metabolic process|stimulation of DNA metabolic process|up-regulation of DNA metabolic process owl:Class MONDO:0008172 biolink:NamedThing hypertrophic osteoarthropathy, primary, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl PHOAD|PDP, autosomal dominant|hypertrophic osteoarthropathy, primary, autosomal dominant|Pho, autosomal dominant|pachydermoperiostosis, autosomal dominant UMLS:C2674695|OMIM:167100|Orphanet:2796 owl:Class HP:0001508 biolink:NamedThing Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. tmpaxzxjjyw_mondo_relaxed.owl Postnatal failure to thrive|Poor weight gain|Undergrowth|Faltering weight|Weight faltering UMLS:C0231246|UMLS:C2315100|SNOMEDCT_US:432788009|SNOMEDCT_US:36440009 Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). HP:0008853|HP:0001535|HP:0008916|HP:0008878 human_phenotype owl:Class MONDO:0011065 biolink:NamedThing Hunter-McAlpine craniosynostosis Hunter-McAlpine craniosynostosis is characterised by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). tmpaxzxjjyw_mondo_relaxed.owl Hunter-McAlpine syndrome|craniosynostosis, mental deficiency, almond-shaped palpebral fissures, downturned mouth, mild acral-skeletal anomalies, and short stature|Hunter-McAlpine craniosynostosis syndrome ICD10:Q87.0|OMIM:601379|SCTID:721227001|GARD:0002754|MESH:C536072|UMLS:C1832408|Orphanet:97340 owl:Class MONDO:0003754 biolink:NamedThing Brown-Sequard syndrome Brown-Sequard syndrome is a rare neurological condition that results from an injury or damage to one side of the spinal cord. This condition results in weakness or paralysis on one side of the body (hemiparaplegia) and a loss of sensation on the opposite side (hemianesthesia). Brown-Sequard syndrome most commonly occurs in the the thoracic spine (upper and middle back). There are several causes of Brown-Sequard syndrome, including: a spinal cord tumor, trauma (such as a puncture wound to the neck or back), infectious or inflammatory diseases (tuberculosis or multiple sclerosis), and disk herniation. Treatment for this condition varies depending on the underlying cause. tmpaxzxjjyw_mondo_relaxed.owl Hemispinal cord syndrome|Hemicord syndrome|Brown-Squard syndrome|Hemiparaplegic syndrome EFO:1001279|MESH:D018437|NCIT:C84601|ICD10:G83.81|DOID:606|SCTID:27982003|GARD:0005964 https://rarediseases.info.nih.gov/diseases/5964/brown-sequard-syndrome owl:Class MONDO:0007288 biolink:NamedThing cataract 6 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the EPHA2 gene. tmpaxzxjjyw_mondo_relaxed.owl posterior polar cataract 1|CTPP|cataract 6, multiple types|cataract, age-related cortical, 2|EPHA2 cataract (disease)|CTPA|Posterior polar cataract, 1|CTRCT6|cataract, posterior polar, 1|CTPP1|cataract (disease) caused by mutation in EPHA2|age related cortical cataract 2|ARCC2 Orphanet:98994|GARD:0010234|OMIM:116600|DOID:0110229|Orphanet:91492|ICD10:Q12.0|Orphanet:98993 owl:Class GO:0051955 biolink:NamedThing regulation of amino acid transport Any process that modulates the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014146 biolink:NamedThing autosomal dominant hypocalcemia 2 An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13. tmpaxzxjjyw_mondo_relaxed.owl hypocalcemia, autosomal dominant type 2|HYPOC2|autosomal dominant hypocalcemia type 2|hypocalcemia, autosomal dominant 2 Orphanet:428|UMLS:C3809243|OMIM:615361|DOID:0090108|Orphanet:2238 owl:Class MONDO:0014774 biolink:NamedThing neuroblastoma, susceptibility to, 7 tmpaxzxjjyw_mondo_relaxed.owl neuroblastoma, susceptibility to, 7; NBLST7|neuroblastoma, susceptibility to, type 7|neuroblastoma, susceptibility to, 7|NBLST7 OMIM:616792 owl:Class CL:0002122 biolink:NamedThing B220-positive CD38-positive IgG-negative class switched memory B cell A B220-positive CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-positive, CD38-positive, and IgG-negative. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class GO:0030667 biolink:NamedThing secretory granule membrane The lipid bilayer surrounding a secretory granule. tmpaxzxjjyw_mondo_relaxed.owl secretory vesicle membrane owl:Class GO:0030659 biolink:NamedThing cytoplasmic vesicle membrane The lipid bilayer surrounding a cytoplasmic vesicle. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007391 biolink:NamedThing pelvic appendage cartilage tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018024 biolink:NamedThing hydroa vacciniforme A rare skin disorder of unknown etiology affecting children. It is a photodermatitis, characterized by the formation of vesicles and scarring on sun exposed areas. tmpaxzxjjyw_mondo_relaxed.owl hV UMLS:C0020241|NCIT:C84766|ICD10:L56.4|Orphanet:330058|SCTID:200837006|MESH:D006837|OMIM:603794|GARD:0009654 https://rarediseases.info.nih.gov/diseases/9654/hydroa-vacciniforme owl:Class MONDO:0012209 biolink:NamedThing branchiogenic deafness syndrome Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent. tmpaxzxjjyw_mondo_relaxed.owl MC)garbanC)-Loiselet syndrome|BRANCHIOGENIC-deafness syndrome|Mégarbané-Loiselet syndrome UMLS:C1836673|ICD10:Q87.0|SCTID:717944002|OMIM:609166|Orphanet:50815|MESH:C563780 owl:Class UBERON:0002749 biolink:NamedThing regional part of cerebellar cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016770 biolink:NamedThing actinic lichen planus Actinic lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of photo-distributed lichenoid lesions. tmpaxzxjjyw_mondo_relaxed.owl lichen planus tropicus|lichen planus subtropicus|summertime actinic lichenoid eruption|lichen planus actinus|actinic LP|lichenoid melanodermatitis UMLS:C0406365|ICD10:L43.8|Orphanet:254395|GARD:0012673|SCTID:200999007 https://rarediseases.info.nih.gov/diseases/12673/actinic-lichen-planus owl:Class MONDO:0018560 biolink:NamedThing anterior urethral valve tmpaxzxjjyw_mondo_relaxed.owl Orphanet:435372|SCTID:253907008|UMLS:CN242188|ICD10:Q64.7 Editor note: consider obsoleting as represents a finding owl:Class MONDO:0043179 biolink:NamedThing piepkorn karp hickok syndrome tmpaxzxjjyw_mondo_relaxed.owl short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect GARD:0004345|UMLS:C2931016|MESH:C535774 owl:Class MONDO:0017798 biolink:NamedThing Spigelian hernia-cryptorchidism syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203757|Orphanet:314432|ICD10:K43.6 owl:Class HGNC:16257 biolink:NamedThing TUBB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007272 biolink:NamedThing ensheathment of neurons The process in which glial cells envelop neuronal cell bodies and/or axons to form an insulating layer. This can take the form of myelinating or non-myelinating ensheathment. tmpaxzxjjyw_mondo_relaxed.owl ionic insulation of neurons by glial cells owl:Class OBO:CHR_9606-chrXq27 biolink:NamedThing Xq27 (Human) tmpaxzxjjyw_mondo_relaxed.owl 148000000 138900000 hg38 owl:Class MONDO:0020327 biolink:NamedThing classic Hodgkin lymphoma, nodular sclerosis type tmpaxzxjjyw_mondo_relaxed.owl ICD10:C81.1|Orphanet:98843 owl:Class MONDO:0005936 biolink:NamedThing recurrent pneumonia Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see mycobacterium avium complex;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae. tmpaxzxjjyw_mondo_relaxed.owl recurrent pneumonia|recurrent pneumonia (disease) recurrent pneumonia (disease) SCTID:699014000|EFO:0007461|HP:0006532 owl:Class MONDO:0009691 biolink:NamedThing mycosis fungoides Classical mycosis fungoides is the most common type of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors. tmpaxzxjjyw_mondo_relaxed.owl mycosis fungoides of unspecified site|mycosis fungoides (morphologic abnormality)|cutaneous T-cell lymphoma/mycosis fungoides|mycosis fungoides|mycosis fungoides lymphoma|granuloma fungoides|classic mycosis fungoides|MF|mycosis fungoides, Alibert-Bazin type|Alibert-Bazin syndrome|mycosis fungoides NOS (morphologic abnormality)|CTCL/ mycosis fungoides|mycosis fungoides, unspecified site, extranodal and solid organ sites ICD9:202.1|ICD10:C84.0|MedDRA:10028483|Orphanet:2584|EFO:1001051|SCTID:118618005|NCIT:C3246|ONCOTREE:MYCF|GARD:0003863|ICD10:C84.00|OMIM:254400|MESH:D009182|UMLS:C0026948|DOID:8691|ICDO:9700/3 https://rarediseases.info.nih.gov/diseases/3863/mycosis-fungoides owl:Class MONDO:0003333 biolink:NamedThing benign struma ovarii A mature monodermal teratoma that arises from the ovary and is characterized by the presence of benign, thyroid-type tissues. tmpaxzxjjyw_mondo_relaxed.owl benign struma ovarii|struma ovarii, benign NCIT:C40012|UMLS:C1511104|DOID:5209 owl:Class ENVO:01000752 biolink:NamedThing area of barren land An area of a planet's surface which is primarily composed of bedrock, desert pavement, scarp rock, talus, material exposed by slides, volcanic material, glacial debris, sand, material exposed during strip mining, gravel, and other accumulations of earthen material in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011251 biolink:NamedThing facial dysmorphism, cleft palate, hearing loss, and camptodactyly tmpaxzxjjyw_mondo_relaxed.owl facial dysmorphism, cleft palate, hearing loss, and camptodactyly UMLS:C1865203|MESH:C566524|OMIM:602556 owl:Class MONDO:0022682 biolink:NamedThing cennamo gangemi syndrome tmpaxzxjjyw_mondo_relaxed.owl hydrocephalus cataract microphthalmos GARD:0001179 https://rarediseases.info.nih.gov/diseases/1179/cennamo-gangemi-syndrome owl:Class ECTO:0000557 biolink:NamedThing exposure to inhibitor An exposure to inhibitor. tmpaxzxjjyw_mondo_relaxed.owl exposure to inhibitor owl:Class PATO:0001305 biolink:NamedThing increased temperature A temperature which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl high temperature|hot owl:Class MONDO:0020937 biolink:NamedThing contractures, pterygia, and variable skeletal fusions syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:178110 owl:Class MONDO:0021441 biolink:NamedThing benign neoplasm of exocrine pancreas A benign neoplasm that involves the exocrine pancreas. tmpaxzxjjyw_mondo_relaxed.owl benign exocrine pancreatic neoplasm|exocrine pancreas benign neoplasm|benign exocrine pancreas tumor|benign neoplasm of the exocrine pancreas|benign exocrine pancreas neoplasm|benign tumor of exocrine pancreas|benign tumor of the exocrine pancreas NCIT:C4613|SCTID:271956003|UMLS:C0347285 owl:Class UBERON:0003434 biolink:NamedThing wrist nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000377 biolink:NamedThing malignant Leydig cell tumor A Leydig cell tumor characterized by large tumor size, the presence of cytologic atypia, increased mitotic activity, necrosis, and vascular invasion. Approximately 10% of the testicular Leydig cell tumors show malignant characteristics and metastasize. Leydig cell tumors of the ovary follow a benign clinical course. tmpaxzxjjyw_mondo_relaxed.owl Leydig cell tumor, malignant|malignant interstitial cell tumor|Leydig cell cancer|malignant interstitial cell neoplasm|cancer of Leydig cell|malignant neoplasm of Leydig cell|malignant Leydig cell neoplasm DOID:0050616|UMLS:C0334410|ICDO:8650/3|NCIT:C4213 owl:Class MONDO:0009810 biolink:NamedThing autosomal recessive distal osteolysis syndrome Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance|osteolysis, distal, with short stature, intellectual disability, and characteristic Facial appearance|osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance|distal osteolysis-short stature-intellectual disability syndrome|osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance|osteolysis syndrome recessive|osteolysis syndrome, recessive|Petit-Fryns syndrome UMLS:C4275111|UMLS:C1850143|MESH:C536052|GARD:0004299|Orphanet:2776|SCTID:715487005|OMIM:259610|GARD:0004144 owl:Class MONDO:0024350 biolink:NamedThing pityriasis steatoides tmpaxzxjjyw_mondo_relaxed.owl pityriasis steatoides ICD9:696.5|SCTID:403426003|UMLS:C1274781 owl:Class MONDO:0019551 biolink:NamedThing hereditary motor and sensory neuropathy type 6 tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease type 6|CMT6|peripheral neuropathy and optic atrophy|hereditary motor and sensory neuropathy type 6 ICD10:G60.0|DOID:0080068|OMIM:616505|OMIM:601152|Orphanet:90120|UMLS:C0393807 owl:Class UBERON:0014487 biolink:NamedThing distal phalanx of digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013027 biolink:NamedThing posterior amorphous corneal dystrophy Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision. tmpaxzxjjyw_mondo_relaxed.owl posterior amorphous corneal dystrophy|PACD|chromosome 12Q21.33 deletion syndrome|corneal dystrophy, POSTERIOR amorphous|posterior amorphous stromal dystrophy OMIM:612868|MESH:C567546|DOID:0060452|ICD10:H18.5|SCTID:719296002|Orphanet:98971|UMLS:C2748502 owl:Class MONDO:0008622 biolink:NamedThing tricho-retino-dento-digital syndrome Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients. tmpaxzxjjyw_mondo_relaxed.owl Bork syndrome|uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly|Bork Stender Schmidt syndrome|uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome OMIM:191482|UMLS:C1860605|ICD10:Q82.4|SCTID:719910004|Orphanet:1264|MESH:C536576|GARD:0000938 owl:Class UBERON:0005328 biolink:NamedThing mesonephric comma-shaped body tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009914 biolink:NamedThing hormone transport The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020308 biolink:NamedThing benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Gastaut type is a rare, genetic neurological disorder characterized by childhood to mid-adolescence onset of frequent, brief, diurnal simple partial seizures which usually begin with visual hallucinations (e.g. phosphenes) and/or ictal blindness and may associate non visual seizures (such as deviation of the eyes, oculoclonic seizures), forced eyelid closure and blinking and sensory hallucinations. Post-ictal headache is common while impairment of consciousness is rare. tmpaxzxjjyw_mondo_relaxed.owl late-onset benign childhood occipital epilepsy UMLS:CN207128|ICD10:G40.0|Orphanet:98816 owl:Class MONDO:0007558 biolink:NamedThing benign occipital epilepsy Benign occipital epilepsy is a rare, genetic neurological disorder characterized by visual seizures and occipital epileptiform paroxysms reactive to ocular opening which present in infancy to mid-adolescence. Vomiting, tonic eye deviation and impairment of consciousness are typically associated with the Panayiotopoulos type, while visual hallucinations, ictal blindness and post-ictal headache are commonly observed in the Gastaut type. Electroencephalographic findings in both types are similar and include bilateral, synchronous, high voltage spike-wave complexes in a normal background activity located predominantly in the occipital lobes. tmpaxzxjjyw_mondo_relaxed.owl epilepsy, benign occipital|BOE OMIM:132090|ICD10:G40.0|Orphanet:25968|GARD:0002170|UMLS:C1851549 https://rarediseases.info.nih.gov/diseases/2170/epilepsy-benign-occipital owl:Class MONDO:0016587 biolink:NamedThing arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death. tmpaxzxjjyw_mondo_relaxed.owl ARVC|arrhythmogenic RVD|arrhythmogenic right ventricular dysplasia|ARVD|arrhythmogenic right ventricular dysplasia/cardiomyopathy|arrhythmogenic right ventricular cardiomyopathy|right ventricular dysplasia|ARVC cardiomyopathy Orphanet:217656|UMLS:CN239850|SCTID:281170005|DOID:0050431|ICD9:425.4|MedDRA:10058093|Orphanet:247|UMLS:C0349788|MESH:D019571|GARD:0005847|NCIT:C84571|ICD10:I42.8|OMIM:604401|UMLS:CN221565 owl:Class MONDO:0018900 biolink:NamedThing corticosteroid-sensitive aseptic abscess syndrome Corticosteroid-sensitive aseptic abscesses syndrome is a well-defined entity within the group of autoinflammatory disorders. tmpaxzxjjyw_mondo_relaxed.owl aseptic abscesses syndrome|corticosteroid-sensitive aseptic abscesses|aseptic systemic abscesses|disseminated aseptic abscesses GARD:0010946|Orphanet:54251|SCTID:720751000|UMLS:CN205271 owl:Class MONDO:0044872 biolink:NamedThing dysautonomia An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl dysautonomia NCIT:C53439 owl:Class MONDO:0000265 biolink:NamedThing aspiration pneumonia A type of lung inflammation resulting from the aspiration of food, liquid, or gastric contents into the upper respiratory tract. tmpaxzxjjyw_mondo_relaxed.owl acid aspiration syndrome|syndrome, Mendelson|aspiration pneumonia|Mendelson syndrome|syndrome, Mendelson's|acid aspiration syndromes|syndrome, acid aspiration|gastric acid aspiration syndrome|Pneumonias, aspiration|Mendelson's syndrome|Mendelsons syndrome|inhalation pneumonia|aspiration Pneumonias|syndromes, acid aspiration|aspiration pneumonia (disease) aspiration pneumonia (disease) HP:0011951|ICD10:J69.0|DOID:0050152|UMLS:C0032290|SCTID:422588002|MESH:D011015|UMLS:C0085740 owl:Class CL:0000006 biolink:NamedThing neuronal receptor cell tmpaxzxjjyw_mondo_relaxed.owl neuronal receptor cell (sensu Animalia) cell owl:Class MONDO:0011775 biolink:NamedThing nasopharyngeal carcinoma, susceptibility to, 1 Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene. tmpaxzxjjyw_mondo_relaxed.owl nasopharyngeal cancer|nasopharyngeal carcinoma, susceptibility to, 1|nasopharyngeal carcinoma|Npca|NPC|nasopharyngeal carcinoma caused by mutation in TP53|TP53 nasopharyngeal carcinoma Orphanet:150|UMLS:C1846758|UMLS:C2931822|OMIM:607107 owl:Class MONDO:0014442 biolink:NamedThing Bardet-Biedl syndrome 14 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21. tmpaxzxjjyw_mondo_relaxed.owl BBS14|Bardet-Biedl syndrome type 14|Bardet-Biedl syndrome 14 DOID:0110136|Orphanet:110|UMLS:C2673874|ICD10:Q87.89|MESH:C567141|OMIM:615991 owl:Class MONDO:0005080 biolink:NamedThing portal hypertension Increased blood pressure in the portal venous system. It is most commonly caused by cirrhosis. Other causes include portal vein thrombosis, Budd-Chiari syndrome, and right heart failure. Complications include ascites, esophageal varices, encephalopathy, and splenomegaly. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3119|ICD10:K76.6|UMLS:C0020541|DOID:10762|MESH:D006975|ICD9:572.3|EFO:0000666|GARD:0008229|SCTID:34742003 owl:Class MONDO:0014420 biolink:NamedThing short stature due to primary acid-labile subunit deficiency Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity. tmpaxzxjjyw_mondo_relaxed.owl acid-labile SUBUNIT deficiency|ACLSD Orphanet:140941|UMLS:C3900122|ICD10:E34.3|OMIM:615961|SCTID:721074002 owl:Class ECTO:0000726 biolink:NamedThing exposure to allergen An exposure to allergen. tmpaxzxjjyw_mondo_relaxed.owl exposure to allergen owl:Class UBERON:0034986 biolink:NamedThing sacral nerve plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:260963 biolink:NamedThing Avulavirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2560069 biolink:NamedThing Avulavirinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014885 biolink:NamedThing Hermansky-Pudlak syndrome 10 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene. tmpaxzxjjyw_mondo_relaxed.owl HPS10|Hermansky-Pudlak syndrome type 10|Hermansky-Pudlak syndrome 10|AP3D1 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome 10; HPS10|Hermansky-Pudlak syndrome caused by mutation in AP3D1 UMLS:C4310746|OMIM:617050 owl:Class MONDO:0011774 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 30 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene. tmpaxzxjjyw_mondo_relaxed.owl DFNB30|autosomal recessive nonsyndromic deafness 30|deafness, autosomal recessive 30|MYO3A autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 30|autosomal recessive nonsyndromic deafness type 30|autosomal recessive deafness 30|autosomal recessive nonsyndromic deafness caused by mutation in MYO3A MESH:C564624|Orphanet:90636|UMLS:C1846784|ICD10:H90.3|DOID:0110489|OMIM:607101 owl:Class MONDO:0006112 biolink:NamedThing bladder inflammatory myofibroblastic tumor A multinodular intermediate fibroblastic neoplasm arising from the bladder. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. tmpaxzxjjyw_mondo_relaxed.owl bladder inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic bladder tumor|inflammatory myofibroblastic tumor of urinary bladder|inflammatory myofibroblastic neoplasm of the urinary bladder|bladder inflammatory myofibroblastic tumor|inflammatory myofibroblastic neoplasm of the bladder|urinary bladder inflammatory myofibroblastic neoplasm|inflammatory myofibroblastic tumor of bladder|inflammatory myofibroblastic neoplasm of urinary bladder|urinary bladder inflammatory myofibroblastic tumor|inflammatory myofibroblastic tumor of the urinary bladder|inflammatory myofibroblastic neoplasm of bladder|inflammatory myofibroblastic tumor of the bladder NCIT:C6177|EFO:1000127|ONCOTREE:IMTB|UMLS:C1336891 owl:Class MONDO:0009583 biolink:NamedThing blepharophimosis - intellectual disability syndrome, Ohdo type Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl Ohdo-Madokoro-Sonoda syndrome|Ohdo syndrome|blepharophimosis syndrome, Ohdo type|intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth|Ohdo blepharophimosis syndrome|BMRS, Ohdo type|mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth OMIM:249620|SCTID:412787009|ICD9:374.89|Orphanet:2728|ICD9:525.8|UMLS:C0796094 owl:Class MONDO:0001351 biolink:NamedThing uterine adnexa cancer tmpaxzxjjyw_mondo_relaxed.owl ICD10:C57.4|DOID:11747|ICD9:183|ICD9:183.9 Editor note: TODO add uberon class owl:Class MONDO:0100233 biolink:NamedThing long COVID-19 A chronic disease triggered by acute COVID-19 infection that is characterized by persistent symptoms following the acute phase of the SARS-CoV-2 infection, which may include fatigue, coughing, dyspnea, clouding of mentation, sleep disturbances, exercise intolerance and autonomic symptoms including tachycardia upon mild exercise or standing, night sweats, temperature dysregulation, gastroparesis, constipation or loose stools, and peripheral vasoconstriction. tmpaxzxjjyw_mondo_relaxed.owl post-acute sequelae of SARS-CoV-2 infection|PASC|long-haul COVID-19|post-acute sequelae of COVID-19|long haul COVID-19|sequelae of COVID-19 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013757 biolink:NamedThing congenital nongoitrous hypothryoidism 6 Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene. tmpaxzxjjyw_mondo_relaxed.owl congenital nongoitrous hypothyroidism 6|hypothyroidism, congenital, nongoitrous, 6|hypothyroidism, congenital, nongoitrous caused by mutation in THRA|THRA hypothyroidism, congenital, nongoitrous|hypothyroidism, congenital, nongoitrous, type 6|CHNG6 OMIM:614450|Orphanet:97927|ICD10:E03.1|UMLS:C3280817|DOID:0070128 owl:Class MONDO:0019995 biolink:NamedThing peripheral resistance to thyroid hormones Peripheral resistance to thyroid hormones may be a cause of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4273673|OMIM:609893|OMIM:614450|Orphanet:97927|ICD10:E03.1|SCTID:718193005|GARD:0012734|UMLS:CN206931 https://rarediseases.info.nih.gov/diseases/12734/peripheral-resistance-to-thyroid-hormones owl:Class CHEBI:33457 biolink:NamedThing phosphorus oxoacid A pnictogen oxoacid which contains phosphorus and oxygen, at least one hydrogen atom bound to oxygen, and forms an ion by the loss of one or more protons. tmpaxzxjjyw_mondo_relaxed.owl Oxosaeure des Phosphors|oxoacids of phosphorus|phosphorus oxoacids|phosphorus oxoacid owl:Class CHEBI:33408 biolink:NamedThing pnictogen oxoacid tmpaxzxjjyw_mondo_relaxed.owl pnictogen oxoacids owl:Class MONDO:0054591 biolink:NamedThing Stankiewicz-Isidor syndrome A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems. tmpaxzxjjyw_mondo_relaxed.owl STISS|Stankiewicz-Isidor syndrome UMLS:C4479599|OMIM:617516 owl:Class MONDO:0015717 biolink:NamedThing mild hemophilia B Mild hemophilia B is a form of hemophilia B characterized by a small deficiency of factor IX leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpaxzxjjyw_mondo_relaxed.owl mild hemophilia type B|mild factor IX deficiency ICD10:D67|Orphanet:169799|UMLS:CN200229 owl:Class PATO:0001824 biolink:NamedThing dry A wetness quality inhering in a bearer by virtue of the bearer's not being covered by a liquid. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001822 biolink:NamedThing wetness A quality inhering in a bearer by virtue of whether the bearer's being covered by a liquid. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017809 biolink:NamedThing parkinsonism due to ATP13A2 deficiency tmpaxzxjjyw_mondo_relaxed.owl CLN12 disease ICD10:E75.4|UMLS:CN203776|Orphanet:314632|OMIM:606693 owl:Class MONDO:0018095 biolink:NamedThing Weaver-Williams syndrome Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204431|ICD10:Q87.8|Orphanet:3448 owl:Class MONDO:0007378 biolink:NamedThing posterior polymorphous corneal dystrophy 1 A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. tmpaxzxjjyw_mondo_relaxed.owl Maumenee corneal dystrophy|PPCD1|corneal dystrophy, posterior polymorphous, type 1|posterior polymorphous corneal dystrophy|corneal dystrophy, hereditary polymorphous posterior|corneal endothelial dystrophy 1, autosomal dominant|corneal endothelial dystrophy 1, autosomal dominant, formerly|corneal dystrophy, POSTERIOR polymorphous, 1|Ched1|Ppcd1|posterior polymorphous corneal dystrophy type 1 ICD9:371.58|OMIM:122000|DOID:0110855|UMLS:CN029625|ICD10:H18.50|Orphanet:98973|SCTID:29504002 https://github.com/monarch-initiative/mondo/issues/1368 owl:Class MONDO:0015698 biolink:NamedThing transient hypogammaglobulinemia of infancy A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span. tmpaxzxjjyw_mondo_relaxed.owl transient hypogammaglobulinemia of infancy|THI Orphanet:169139|UMLS:C0272238|SCTID:88714009|ICD9:279.09|ICD10:D80.7|MedDRA:10044388|DOID:624|NCIT:C27071 owl:Class MONDO:0003827 biolink:NamedThing transient hypogammaglobulinemia A broad classification for humoral immunodeficiencies. These disorders may be caused by inadequate activation of progenitor B cells, defective class-switching or the effects of medications. Despite the potential for increased susceptibility to infection, these disorders are self-limited with eventual normalization of serum antibody levels. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0859960|DOID:625|NCIT:C27319 owl:Class MONDO:0005603 biolink:NamedThing pancreatic tubular adenocarcinoma A tubular adenocarcinoma that involves the pancreas. tmpaxzxjjyw_mondo_relaxed.owl pancreas tubular adenocarcinoma EFO:0006471 owl:Class MONDO:0017555 biolink:NamedThing radio-ulnar synostosis, bilateral tmpaxzxjjyw_mondo_relaxed.owl radio-ulnar fusion, bilateral Orphanet:295219|UMLS:CN203291|ICD10:Q74.0 owl:Class MONDO:0013157 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 tmpaxzxjjyw_mondo_relaxed.owl MDDGA5|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5|muscle-eye-brain-FKRP related|Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related Orphanet:899|Orphanet:588|OMIM:613153|UMLS:C3150413|DOID:0111241 owl:Class UBERON:0009847 biolink:NamedThing prostate field tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:63510 biolink:NamedThing EC 3.6.3.9 (Na(+)/K(+)-transporting ATPase) inhibitor An EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor that interferes with the action of Na(+)/K(+)-transporting ATPase (EC 3.6.3.9). tmpaxzxjjyw_mondo_relaxed.owl Na(+)/K(+)-transporting ATPase inhibitors|Na(+)/K(+)-pump inhibitors|Na(+)/K(+)-transporting ATPase (EC 3.6.3.9) inhibitors|Na(+)/K(+)-ATPase inhibitor|sodium-potassium adenosine triphosphatase inhibitors|sodium pump inhibitor|EC 3.6.3.9 (Na(+)/K(+)-transporting ATPase) inhibitors|EC 3.6.3.9 inhibitor|Na(+)/K(+)-transporting ATPase (EC 3.6.3.9) inhibitor|EC 3.6.3.9 inhibitors|sodium-potassium pump inhibitor|Na(+)/K(+)-pump inhibitor|Na(+)/K(+)-ATPase inhibitors|sodium pump inhibitors|Na(+)/K(+)-transporting ATPase inhibitor|sodium-potassium pump inhibitors|sodium-potassium adenosine triphosphatase inhibitor owl:Class CHEBI:76895 biolink:NamedThing EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitor An EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor that interferes with the action of any such enzyme that catalyses transmembrane movement of substances (EC 3.6.3.*). tmpaxzxjjyw_mondo_relaxed.owl EC 3.6.3.* inhibitors|acid anhydride hydrolase catalysing transmembrane movement of substances (EC 3.6.3.*) inhibitor|EC 3.6.3.* inhibitor|EC 3.6.3.* (acid anhydride hydrolase catalysing transmembrane movement of substances) inhibitors|acid anhydride hydrolase catalysing transmembrane movement of substances (EC 3.6.3.*) inhibitors owl:Class MONDO:0007902 biolink:NamedThing lichen planus, familial An instance of lichen planus that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary lichen planus|lichen planus, familial MESH:C563624|UMLS:C1835402|OMIM:151620 owl:Class NCBITaxon:5811 biolink:NamedThing Toxoplasma gondii tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5810 biolink:NamedThing Toxoplasma tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0006563 biolink:NamedThing L-serine metabolic process The chemical reactions and pathways involving L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. tmpaxzxjjyw_mondo_relaxed.owl L-serine metabolism owl:Class MONDO:0018525 biolink:NamedThing solid pseudopapillary carcinoma of pancreas A malignant neoplasm arising from the exocrine pancreas. It occurs predominantly in young women. It is characterized by the presence of extensive necrosis and hemorrhage and is composed of polyhedral cells forming solid and pseudopapillary patterns. There is morphologic evidence of perineural invasion, vascular invasion, or extensive invasion into the surrounding tissues. tmpaxzxjjyw_mondo_relaxed.owl solid pseudopapillary neoplasm of the pancreas|solid pseudopapillary carcinoma of pancreas|pancreatic solid pseudopapillary carcinoma|solid pseudopapillary carcinoma of the pancreas NCIT:C5728|ICD10:C25.8|ICDO:8452/3|ICD10:C25.2|ICD10:C25.1|UMLS:C1336029|EFO:1000542|ICD10:C25.7|ICD10:C25.0|Orphanet:424065|DOID:6827 owl:Class HGNC:7534 biolink:NamedThing MXI1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014106 biolink:NamedThing hypogonadotropic hypogonadism 20 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene. tmpaxzxjjyw_mondo_relaxed.owl FGF17 hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in FGF17|HH20|hypogonadotropic hypogonadism 20 with or without anosmia UMLS:C3808983|ICD10:E23.0|OMIM:615270|DOID:0090082 owl:Class MONDO:0004528 biolink:NamedThing lymph node palisaded myofibroblastoma A myofibroblastoma arising from the inguinal lymph nodes. It is characterized by the presence of nuclear palisading. tmpaxzxjjyw_mondo_relaxed.owl palisaded myofibroblastoma of lymph node|palisaded lymph node myofibroblastoma|palisaded myofibroblastoma of the lymph node DOID:8304|UMLS:C1335295|NCIT:C6584 owl:Class HGNC:9204 biolink:NamedThing PON1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014103 biolink:NamedThing hypogonadotropic hypogonadism 18 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the IL17RD gene. tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropic hypogonadism 18 with or without anosmia|IL17RD hypogonadotropic hypogonadism|hypogonadotropic hypogonadism caused by mutation in IL17RD|HH18 Orphanet:478|ICD10:E23.0|UMLS:C3808975|DOID:0090076|OMIM:615267 owl:Class MONDO:0012922 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 5 tmpaxzxjjyw_mondo_relaxed.owl infantile hypertrophic pyloric stenosis type 5|IHPS5|pyloric stenosis, infantile hypertrophic, 5 OMIM:612525|MESH:C567283|UMLS:C2675862 owl:Class CHEBI:26375 biolink:NamedThing pterins tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014814 biolink:NamedThing advanced sleep phase syndrome 3 Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene. tmpaxzxjjyw_mondo_relaxed.owl FASPS3|PER3 advanced sleep phase syndrome|advanced sleep phase syndrome, familial, type 3|advanced sleep phase syndrome caused by mutation in PER3|advanced sleep phase syndrome, familial, 3|advanced sleep phase syndrome type 3|familial advanced sleep phase syndrome 3 DOID:0110013|UMLS:C4225169|OMIM:616882 owl:Class UBERON:0003829 biolink:NamedThing urethra muscle tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013461 biolink:NamedThing inosine triphosphatase deficiency An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes. tmpaxzxjjyw_mondo_relaxed.owl inosine triphosphate pyrophosphohydrolase deficiency|inosine triphosphatase deficiency MESH:C564127|OMIM:613850|SCTID:238011005|UMLS:C0342800|NCIT:C129974|Orphanet:319684|ICD9:277.2 owl:Class GO:0034308 biolink:NamedThing primary alcohol metabolic process The chemical reactions and pathways involving primary alcohols. A primary alcohol is any alcohol in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. tmpaxzxjjyw_mondo_relaxed.owl monohydric alcohol metabolic process|primary alcohol metabolism owl:Class UBERON:0009580 biolink:NamedThing diencephalon mantle layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000689 biolink:NamedThing exposure to P450 inhibitor An exposure to P450 inhibitor. tmpaxzxjjyw_mondo_relaxed.owl exposure to P450 inhibitor owl:Class HGNC:20151 biolink:NamedThing SLC17A8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003991 biolink:NamedThing villoglandular endometrial endometrioid adenocarcinoma A primary endometrioid adenocarcinoma of the endometrium characterized by the presence of numerous finger-like villi lined by neoplastic columnar cells. tmpaxzxjjyw_mondo_relaxed.owl villoglandular endometrial endometrioid adenocarcinoma UMLS:C1336962|NCIT:C27846|DOID:6777 owl:Class MONDO:0003350 biolink:NamedThing granular cell leiomyosarcoma An aggressive malignant smooth muscle neoplasm. It is characterized by the presence of malignant smooth muscle cells with granular cytoplasmic changes. tmpaxzxjjyw_mondo_relaxed.owl granular cell leiomyosarcoma UMLS:C1333871|DOID:5258|NCIT:C27494 owl:Class MONDO:0008884 biolink:NamedThing oculoosteocutaneous syndrome A syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl anodontia-hypotrichosis syndrome|brachymetapody anodontia hypotrichosis albinoidism|oculoosteocutaneous syndrome|BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM OMIM:211370|Orphanet:2713|MESH:C565893|SCTID:722061006|UMLS:C1859385|GARD:0000992|ICD10:Q87.5 https://github.com/monarch-initiative/mondo/issues/3687|https://rarediseases.info.nih.gov/diseases/992/brachymetapody-anodontia-hypotrichosis-albinoidism owl:Class MONDO:0023597 biolink:NamedThing laryngeal papillomatosis Laryngeal papillomatosis is a form of recurrent respiratory papillomatosis where tumors (papillomas) grow in the larynx (voice box).Symptoms usually begin with hoarseness and/or a change in the voice.Some people mayexperience difficulty breathing (dyspnea) and/or experience other life-threatening complications if the papillomas block the airway. The tumors may vary in size and grow very quickly. They often grow back even when removed.Laryngeal papillomatosisis caused by two types of human papilloma virus (HPV), called HPV 6 and HPV 11. tmpaxzxjjyw_mondo_relaxed.owl juvenile laryngeal papillomatosis|recurrent laryngeal papillomatosis|Warts in the throat|recurrent laryngeal papillomatosis (subtype)|laryngeal papillomatosis|juvenile laryngeal papillomatosis (subtype) MESH:C537876|SCTID:232457008|GARD:0006864|UMLS:C0396072 Editor note: compare with MONDO:0000935 https://rarediseases.info.nih.gov/diseases/6864/laryngeal-papillomatosis owl:Class UBERON:0014464 biolink:NamedThing renal fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023137 biolink:NamedThing feigenbaum Bergeron syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0002280 https://rarediseases.info.nih.gov/diseases/2280/feigenbaum-bergeron-syndrome owl:Class MONDO:0018314 biolink:NamedThing infantile-onset mesial temporal lobe epilepsy with severe cognitive regression A rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G40.2|Orphanet:391316|UMLS:CN204956 owl:Class GO:0070192 biolink:NamedThing chromosome organization involved in meiotic cell cycle A process of chromosome organization that is involved in a meiotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl meiotic chromosome organization|chromosome organisation involved in meiosis owl:Class MONDO:0016004 biolink:NamedThing aminopterin/methotrexate embryofetopathy Aminopterin/Methotrexate embryofetopathy is a syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy. tmpaxzxjjyw_mondo_relaxed.owl fetal methotrexate syndrome|fetal aminopterin syndrome|aminopterin syndrome|aminopterin fetopathy syndrome|aminopterin embryopathy syndrome ICD9:759.89|NCIT:C98928|GARD:0002294|MedDRA:10071183|ICD10:Q86.8|SCTID:65986000|UMLS:C0432367|Orphanet:1908 owl:Class PO:0020144 biolink:NamedThing apical meristem A maximal portion of meristem tissue (PO:0009013) located at a shoot apex (PO:0000037) or root tip (PO:0000025). tmpaxzxjjyw_mondo_relaxed.owl meristema apical (Spanish, exact)|頂端分裂組織 (Japanese, exact)|AM (exact)|primary meristem (related)|promeristem (broad) PO_GIT:579 plant_anatomy owl:Class UBERON:0006285 biolink:NamedThing pubic pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004146 biolink:NamedThing transitional meningioma A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns. tmpaxzxjjyw_mondo_relaxed.owl transitional (mixed) meningioma|transitional meningioma (morphologic abnormality)|mixed meningioma MESH:D008579|EFO:1000602|DOID:7213|NCIT:C4333|ICDO:9537/0|UMLS:C0334611 owl:Class MONDO:0014765 biolink:NamedThing woolly hair, autosomal recessive 3 Any woolly hair in which the cause of the disease is a mutation in the KRT25 gene. tmpaxzxjjyw_mondo_relaxed.owl KRT25 woolly hair (disease)|woolly hair, autosomal recessive 3, with hypotrichosis|woolly hair (disease) caused by mutation in KRT25|woolly hair, autosomal recessive type 3|ARWH3|woolly hair, autosomal recessive 3 OMIM:616760|DOID:0111574|UMLS:C4225214 owl:Class MONDO:0021126 biolink:NamedThing syndromic or isolated An characteristic of a disease that varies depending on whether the disease appears as an isolated feature or whether the disease is a syndrome consisting of multiple features. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006082 biolink:NamedThing anal squamous cell carcinoma A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma - anus|squamous cell carcinoma of anus|epidermoid carcinoma of the anus|anal squamous cell cancer|epidermoid anal carcinoma|squamous cell anal carcinoma|anal squamous cell carcinoma|anus squamous cell carcinoma|squamous cell carcinoma of the anus|epidermoid carcinoma of anus|ANSC SCTID:255084004|NCIT:C9161|DOID:5525|EFO:1000081|UMLS:C1412036|ONCOTREE:ANSC owl:Class MONDO:0023226 biolink:NamedThing gershinibaruch Leibo syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0002464 https://rarediseases.info.nih.gov/diseases/2464/gershinibaruch-leibo-syndrome owl:Class GO:1903862 biolink:NamedThing positive regulation of oxidative phosphorylation Any process that activates or increases the frequency, rate or extent of oxidative phosphorylation. tmpaxzxjjyw_mondo_relaxed.owl upregulation of oxidative phosphorylation|upregulation of respiratory-chain phosphorylation|up regulation of oxidative phosphorylation|up-regulation of respiratory-chain phosphorylation|activation of oxidative phosphorylation|up-regulation of oxidative phosphorylation|up regulation of respiratory-chain phosphorylation|positive regulation of respiratory-chain phosphorylation|activation of respiratory-chain phosphorylation owl:Class MONDO:0006222 biolink:NamedThing gastric choriocarcinoma A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases. tmpaxzxjjyw_mondo_relaxed.owl gastric choriocarcinoma EFO:1000269|UMLS:C2987398|NCIT:C95749 owl:Class MONDO:0017305 biolink:NamedThing syndromic oculocutaneous albinism A oculocutaneous albinism that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndrome associated with oculocutaneous albinism|syndromic oculocutaneous albinism ICD10:E70.3|Orphanet:284811|UMLS:CN227111 owl:Class MONDO:0020275 biolink:NamedThing oculocutaneous or ocular albinism Albinism that affects the eyes, including ocular albinism and oculocutaneous albinism. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E70.3|Orphanet:98706 owl:Class MONDO:0008224 biolink:NamedThing hyperkalemic periodic paralysis Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration. tmpaxzxjjyw_mondo_relaxed.owl familial hyperkalemic periodic paralysis (disorder) [ambiguous]|adynamia episodica hereditaria|hyperkalemic PP|adynamia episodica hereditaria with or without myotonia|HYPP|sodium channel muscle disease|familial hyperkalemic periodic paralysis|primary hyperPP|hyperKPP|normokalemic periodic paralysis, potassium-sensitive|Gamstorp episodic adynamy|familial hyperPP|primary hyperkalemic periodic paralysis|hyperkalemic periodic paralysis|Gamstorp disease|hyperPP Orphanet:682|SCTID:304737009|MESH:D020513|OMIM:170500|UMLS:C0238357|ICD10:G72.3|UMLS:CN074266|NCIT:C123429|GARD:0000195|DOID:14451 owl:Class MONDO:0006409 biolink:NamedThing signet ring cell gastric adenocarcinoma A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin. tmpaxzxjjyw_mondo_relaxed.owl signet Ring cell adenocarcinoma of the stomach|gastric signet Ring cell adenocarcinoma|signet ring cell carcinoma of the stomach|signet Ring cell adenocarcinoma of stomach|signet ring cell gastric adenocarcinoma|signet Ring cell stomach adenocarcinoma|gastric signet ring cell adenocarcinoma NCIT:C5250|DOID:8025|UMLS:C1335965|EFO:1000524|ONCOTREE:SSRCC owl:Class CL:0019018 biolink:NamedThing blood vessel smooth muscle cell A smooth muscle cell that is part of any blood vessel. tmpaxzxjjyw_mondo_relaxed.owl smooth muscle cell of blood vessel 2020-07-21 12:42:48+00:00 owl:Class HP:0002198 biolink:NamedThing Dilated fourth ventricle An abnormal dilatation of the fourth cerebral ventricle. tmpaxzxjjyw_mondo_relaxed.owl Enlarged fourth ventricle UMLS:C1847117 HP:0007223 human_phenotype owl:Class HGNC:11103 biolink:NamedThing SMARCB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:948 biolink:NamedThing Anaplasma phagocytophilum tmpaxzxjjyw_mondo_relaxed.owl Ehrlichia sp. 'HGE agent'|Anaplasma phagocytophila|Rickettsia phagocytophila|human granulocytic Ehrlichia|Ehrlichia phagocytophila|HGE agent|Cytoecetes phagocytophila|Cytoecetes bovis|Rickettsia phagocytophila ovis|Ehrlichia equi|agent of human granulocytic ehrlichiosis PMID:12215262|PMID:1115421|GC_ID:11|PMID:8195363|PMID:11760958 NCBITaxon:75053|NCBITaxon:75115|NCBITaxon:59888|NCBITaxon:946 ncbi_taxonomy owl:Class NCBITaxon:106179 biolink:NamedThing phagocytophilum group tmpaxzxjjyw_mondo_relaxed.owl phagocytophila group GC_ID:11 ncbi_taxonomy owl:Class MONDO:0010005 biolink:NamedThing saccharopinuria Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria. tmpaxzxjjyw_mondo_relaxed.owl saccharopinuria|saccharopine dehydrogenase deficiency|Alpha-aminoadipic semialdehyde synthase deficiency|hyperlysinemia, type 2|hyperlysinemia type II Orphanet:3124|UMLS:C0268556|OMIM:268700|SCTID:111397004|ICD10:E72.3|GARD:0000314|MESH:C537218|ICD9:270.7 owl:Class MONDO:0019141 biolink:NamedThing porokeratosis of Mibelli Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border. tmpaxzxjjyw_mondo_relaxed.owl ICD9:757.39|Orphanet:735|GARD:0004438|ICD10:Q82.8|OMIM:175900|OMIM:175800|SCTID:80432009|UMLS:C0949506 owl:Class HP:0002644 biolink:NamedThing Abnormality of pelvic girdle bone morphology An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. tmpaxzxjjyw_mondo_relaxed.owl Abnormal shape of pelvic girdle bone|Abnormality of the pelvic girdle UMLS:C4020847 human_phenotype owl:Class MONDO:0010003 biolink:NamedThing Rowley-Rosenberg syndrome tmpaxzxjjyw_mondo_relaxed.owl Growth retardation, pulmonary hypertension, and aminoaciduria|Growth retardation, pulmonary hypertension, and amino aciduria|Rowley-Rosenberg syndrome OMIM:268500|UMLS:C0268426|MESH:C535874|GARD:0008556|SCTID:53783003 https://rarediseases.info.nih.gov/diseases/8556/rowley-rosenberg-syndrome owl:Class MONDO:0001816 biolink:NamedThing scleroperikeratitis tmpaxzxjjyw_mondo_relaxed.owl scleritis with corneal involvement SCTID:42574005|ICD9:379.05|UMLS:C0155355|ICD10:H15.04|DOID:13861 owl:Class HGNC:29186 biolink:NamedThing ANKRD26 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015485 biolink:NamedThing choledocho-duodenal junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010892 biolink:NamedThing positive regulation of mitochondrial translation in response to stress Any process that activates or increases the frequency, rate or extent of mitochondrial translation as a result of a stimulus indicating the organism is under stress. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017240 biolink:NamedThing acrodysostosis with multiple hormone resistance tmpaxzxjjyw_mondo_relaxed.owl OMIM:101800|Orphanet:280651|UMLS:CN202748|ICD10:Q75.4|OMIM:614613 owl:Class MONDO:0015483 biolink:NamedThing mandibulofacial dysostosis A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl bilateral and symmetric oto-mandibular dysplasia Orphanet:155899|MESH:D008342|MedDRA:10051456|ICD10:Q75.4 owl:Class MONDO:0017689 biolink:NamedThing disorder of fructose metabolism tmpaxzxjjyw_mondo_relaxed.owl SCTID:39452003|ICD10:E74.1|UMLS:C0342744|Orphanet:308463 owl:Class NCBITaxon:70999 biolink:NamedThing Triatominae tmpaxzxjjyw_mondo_relaxed.owl kissing bugs GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:27479 biolink:NamedThing Reduviidae tmpaxzxjjyw_mondo_relaxed.owl assassin bugs GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004076 biolink:NamedThing tendon sheath lipoma A benign tumor, composed of mature adipocytes, that arises within the tendon sheath. tmpaxzxjjyw_mondo_relaxed.owl tendon sheath lipoma|lipoma of the tendon sheath|lipoma of tendon sheath NCIT:C6499|UMLS:C1336703|DOID:7016 owl:Class ENVO:02500027 biolink:NamedThing anthropogenic environmental process An environmental process which is driven by the action of humans. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010512 biolink:NamedThing negative regulation of phosphatidylinositol biosynthetic process Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018368 biolink:NamedThing primary peritoneal serous/papillary carcinoma tmpaxzxjjyw_mondo_relaxed.owl primary peritoneal serous papillary carcinoma|peritoneal serous papillary adenocarcinoma|PPSPC|primary serous papillary carcinoma of peritoneum|primary peritoneal serous papillary adenocarcinoma ICD10:C48.0|UMLS:C1368918|ICD10:C48.1|ICD10:C48.2|DOID:6228|Orphanet:398980|NCIT:C7695|UMLS:CN205035|ICD10:C48.8 owl:Class CL:0002657 biolink:NamedThing glandular cell of esophagus A glandular epithelial cell of the esophagus. tmpaxzxjjyw_mondo_relaxed.owl FMA:86548 tmeehan 2011-07-08T03:55:57Z cell owl:Class HGNC:6109 biolink:NamedThing IPW tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017781 biolink:NamedThing 12p12.1 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl monosomy 12p12.1|Del(12)(p12.1) Orphanet:313884|OMIM:616803|UMLS:CN203731|ICD10:Q93.5 owl:Class NCBITaxon:513040 biolink:NamedThing Dioctophymatidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002293 biolink:NamedThing cutaneous ganglioneuroma A ganglioneuroma arising from the skin. tmpaxzxjjyw_mondo_relaxed.owl ganglioneuroma of skin|cutaneous ganglioneuroma|ganglioneuroma of the skin|skin ganglioneuroma DOID:2425|SCTID:254766004|NCIT:C4481|UMLS:C0346063 owl:Class MONDO:0020546 biolink:NamedThing acute graft versus host disease A syndrome of immunologically mediated tissue damage that may occur following an allogeneic transplant, usually affecting the skin, liver, and GI tract. The onset is usually within one hundred days of transplantation or immunologic manipulation. tmpaxzxjjyw_mondo_relaxed.owl fulminant graft versus host disease|graft versus host disease, acute|GVHD, acute|acute GVHD GARD:0006544|ICD10:T86.0|SCTID:402355000|NCIT:C4980|ICD9:279.51|MedDRA:10066260|ICD10:D89.810|UMLS:C0018133|UMLS:C0856825|Orphanet:99920 https://rarediseases.info.nih.gov/diseases/6544/acute-graft-versus-host-disease owl:Class MONDO:0013730 biolink:NamedThing graft versus host disease Acute graft-versus-host disease (GVHD) occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen. tmpaxzxjjyw_mondo_relaxed.owl runt disease|diseases, graft-versus-host|disease, graft-versus-host|GVHD|graft-versus-host disease|graft VS host disease|graft-VS-host diseases|disease, runt|graft-versus-host disease, resistance to|graft-versus-host disease, susceptibility to|graft versus host disease|homologous wasting disease|disease, graft-VS-host|diseases, graft-VS-host|disease, homologous wasting|graft-versus-host-disease|GVHDS|graft-versus-host diseases|graft VS. host disease|GVH|graft-VS-host disease NCIT:C3063|Orphanet:39812|UMLS:C0018133|OMIM:614395|ICD9:279.50|SCTID:234646005|MedDRA:10018651|MESH:D006086|ICD10:T86.0 owl:Class MONDO:0004624 biolink:NamedThing uvula cancer A malignant neoplasm involving the palatine uvula. tmpaxzxjjyw_mondo_relaxed.owl palatine uvula cancer|malignant uvular neoplasm|malignant uvula neoplasm|malignant neoplasm of palatine uvula|malignant tumor of uvula|malignant uvular tumour|malignant uvular tumor|malignant uvula tumor|malignant uvula tumour|cancer of palatine uvula|malignant palatine uvula neoplasm NCIT:C35177|SCTID:363389001|UMLS:C0153377|ICD9:145.4|ICD10:C05.2|DOID:8635 owl:Class MONDO:0008497 biolink:NamedThing Stormorken syndrome Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait. tmpaxzxjjyw_mondo_relaxed.owl Thrombocytopathy-asplenia-miosis syndrome|STRMK|Thrombocytopathy, asplenia, and miosis|Stormorken-Sjaastad-Langslet syndrome|Stormorken syndrome|Thrombocytopathy asplenia miosis|thrombocytopathy, asplenia and miosis|york Platelet syndrome GARD:0005188|ICD9:759.89|UMLS:C1861451|SCTID:711407000|MESH:C566108|OMIM:185070|Orphanet:3204|ICD10:D69.8|DOID:0060354 owl:Class MONDO:0009551 biolink:NamedThing magnesium, elevated red cell tmpaxzxjjyw_mondo_relaxed.owl magnesium, elevated red cell OMIM:248260 owl:Class GO:1901148 biolink:NamedThing gene expression involved in extracellular matrix organization Any gene expression that is involved in extracellular matrix organization. Gene expression includes both transcription to produce an RNA transcript, and the translation of that mRNA into protein. Protein maturation is included in gene expression when required to form an active form of a product from an inactive precursor form. tmpaxzxjjyw_mondo_relaxed.owl expression of extracellular matrix proteins|extracellular matrix protein production owl:Class HGNC:1375 biolink:NamedThing CA4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030985 biolink:NamedThing premature ovarian failure 19 tmpaxzxjjyw_mondo_relaxed.owl POF19|premature ovarian failure 19 OMIM:619245 owl:Class MONDO:0008202 biolink:NamedThing Parotidomegaly, hereditary bilateral tmpaxzxjjyw_mondo_relaxed.owl Parotidomegaly, hereditary bilateral MESH:C566821|UMLS:C1868590|OMIM:168800 owl:Class HGNC:6210 biolink:NamedThing CD82 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18129 biolink:NamedThing GHRL tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005408 biolink:NamedThing circumventricular organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5133 biolink:NamedThing HOXD10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008835 biolink:NamedThing asthma, short stature, and elevated IgA tmpaxzxjjyw_mondo_relaxed.owl asthma, short stature, and elevated IgA OMIM:208600|UMLS:C1859647|MESH:C565934 owl:Class MONDO:0007376 biolink:NamedThing fleck corneal dystrophy Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity. tmpaxzxjjyw_mondo_relaxed.owl François-Neetens speckled corneal dystrophy|Francois-Neetens speckled corneal dystrophy|Cfd|fleck corneal dystrophy|FCD|FranC'ois-Neetens speckled corneal dystrophy|corneal dystrophy, FLECK|corneal dystrophy, Francois-Neetens speckled or flecked ICD10:H18.5|ICD9:371.56|OMIM:121850|DOID:0060448|Orphanet:98970|MESH:C563256|UMLS:C1562113|SCTID:417183007 owl:Class MONDO:0004261 biolink:NamedThing periductal breast myoepitheliosis A neoplastic process characterized by the proliferation of spindle to cuboidal myoepithelial cells around small breast ducts. tmpaxzxjjyw_mondo_relaxed.owl periductal breast myoepitheliosis UMLS:C1518974|NCIT:C40388|DOID:7520 owl:Class MONDO:0060707 biolink:NamedThing Ververi-Brady syndrome tmpaxzxjjyw_mondo_relaxed.owl VERBRAS|Ververi-Brady syndrome Orphanet:580940|OMIM:617982|UMLS:CN244927 owl:Class MONDO:0032827 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 16 tmpaxzxjjyw_mondo_relaxed.owl EIG16 OMIM:618596 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0009155 biolink:NamedThing EEM syndrome EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1). tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome|EEMS|ectodermal dysplasia, ectrodactyly, and macular dystrophy|EEM syndrome|ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome SCTID:720856002|DOID:0111649|ICD10:Q87.8|GARD:0002078|OMIM:225280|MESH:C536190|Orphanet:1897 https://rarediseases.info.nih.gov/diseases/2078/eem-syndrome owl:Class UBERON:0003721 biolink:NamedThing lingual nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000706 biolink:NamedThing choroid plexus epithelial cell Specialized ependymal cell that produces the cerebrospinal fluid from the blood and secretes it into the lumen of the brain and spinal chord. tmpaxzxjjyw_mondo_relaxed.owl epithelial cell of choroid plexus FMA:70549 CL:1000430 cell owl:Class CL:0000065 biolink:NamedThing ependymal cell A neurectoderm derived cell that lines the neural lumen. tmpaxzxjjyw_mondo_relaxed.owl ependymocyte FMA:70550|BTO:0001724 cell owl:Class MONDO:0032565 biolink:NamedThing ophthalmoplegia, external, with rib and vertebral anomalies tmpaxzxjjyw_mondo_relaxed.owl OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES|EORVA OMIM:618155 owl:Class MONDO:0021655 biolink:NamedThing secondary catabolic mucinosis of skin tmpaxzxjjyw_mondo_relaxed.owl ICD9:701.8|SCTID:402723003|UMLS:C1274173 owl:Class MONDO:0001648 biolink:NamedThing esophageal candidiasis Esophagitis resulting from Candida. tmpaxzxjjyw_mondo_relaxed.owl esophageal moniliasis|Candida esophagitis|candidal esophagitis|candidiasis of the esophagus|esophageal thrush SCTID:20639004|ICD10:B37.81|UMLS:C0239295|NCIT:C27027|DOID:13146|ICD9:112.84 owl:Class MONDO:0016302 biolink:NamedThing isolated congenitally uncorrected transposition of the great arteries tmpaxzxjjyw_mondo_relaxed.owl isolated congenitally uncorrected transposition of the great vessels ICD10:Q20.3|Orphanet:216718 owl:Class UBERON:0001760 biolink:NamedThing frontal sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000682 biolink:NamedThing time agnosia An agnosia that is a loss of the ability to comprehend the succession and duration of events. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060152 owl:Class MONDO:0000774 biolink:NamedThing autoimmune neuropathy An autoimmune form of peripheral neuropathy. tmpaxzxjjyw_mondo_relaxed.owl autoimmune peripheral neuropathy DOID:0060499|DOID:0040087 Editor note: We do not draw a distinction between between neuropathy and peripheral neuropathy see https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/20 owl:Class MONDO:0001439 biolink:NamedThing episcleritis periodica fugax tmpaxzxjjyw_mondo_relaxed.owl DOID:12124|ICD10:H15.11|ICD9:379.01|SCTID:31166000|UMLS:C0155351 owl:Class MONDO:0017376 biolink:NamedThing reactive arthritis Reactive arthritis (ReA) is an autoimmune disorder belonging to the group of seronegative spondyloarthropathies and is characterized by the classic triad of arthritis, urethritis and conjunctivitis. tmpaxzxjjyw_mondo_relaxed.owl post-bacterial arthropathy|Reiter disease|reactive arthritis|post-infectious arthritis|postdysenteric arthropathy|Fiessinger-Leroy-Reiter syndrome|Reiter's syndrome|post-infectious reactive arthropathy|Fiessinger Leroy Reiter syndrome|venereal arthritis|PIRA|Fiessinger-Leroy disease|Reiter syndrome|polyarthritis enterica|arthritis urethritica|Reiter's disease UMLS:C0085435|ICD10:M02.8|ICD10:M02.10|UMLS:C0035012|UMLS:CN203069|ICD10:M02.1|DOID:6196|MESH:D016918|NCIT:C128332|EFO:0007460|ICD10:M02.3|ICD10:M02.30|Orphanet:29207|ICD9:711.3|ICD9:711.30|MedDRA:10003267|SCTID:129133005|GARD:0005693|ICD9:711.40|ICD9:099.3|MedDRA:10038294 https://rarediseases.info.nih.gov/diseases/5693/reactive-arthritis owl:Class MONDO:0020651 biolink:NamedThing mixed germ cell tumor of vulva tmpaxzxjjyw_mondo_relaxed.owl ONCOTREE:VMGCT owl:Class MONDO:0020731 biolink:NamedThing arbovirus infection A viral infection that is transmitted by an arthropod. tmpaxzxjjyw_mondo_relaxed.owl arthropod-borne viral infection|Arthropod-Borne Viral Infection|Arboviral disease|Arthropod-borne viral infection|arbovirus infection|Infection, Arbovirus|Infections, Arbovirus|ARBOVIRUS INFECT|Arbovirus infection|Arbovirus Infections|Arbovirus Infection EFO:1001269|UMLS:C0003723|NCIT:C34396|MESH:D001102|SCTID:40610006 owl:Class MONDO:0009919 biolink:NamedThing peroxisomal acyl-CoA oxidase deficiency Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy. tmpaxzxjjyw_mondo_relaxed.owl peroxisomal acyl-coenzyme A oxidase|straight-chain acyl-Coa oxidase deficiency|pseudo-NALD|peroxisomal acyl-CoA oxidase deficiency|ACOX1 deficiency|pseudo-neonatal adrenoleukodystrophy|Pseudoneonatal adrenoleukodystrophy|Pseudoadrenoleukodystrophy UMLS:C1849678|ICD10:E71.3|GARD:0004543|Orphanet:2971|DOID:0050797|MESH:C536662|SCTID:238069004|ICD9:255.41|OMIM:264470 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0000348 biolink:NamedThing ophthalmic nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011478 biolink:NamedThing growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia tmpaxzxjjyw_mondo_relaxed.owl growth and developintellectual disability, ocular ptosis, cardiac defect, and anal atresia|Roca-Weidemann syndrome|growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia|Roca syndrome UMLS:C1858182|MESH:C565755|OMIM:604690 owl:Class MONDO:0013294 biolink:NamedThing atopic dermatitis 8 An atopic dermatitis associated with variation in the region 4q22.1. tmpaxzxjjyw_mondo_relaxed.owl dermatitis, ATOPIC, 8|atopic dermatitis type 8|ATOD8|dermatitis, Atopic, severity of DOID:0110104|UMLS:C3150763|OMIM:613518 owl:Class MONDO:0000979 biolink:NamedThing pinta disease An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes. tmpaxzxjjyw_mondo_relaxed.owl Azul|pinta|Mal del pinto|Lota|Tina|Empeines|endemic treponematosis caused by Treponema carateum|Carate|infection by Treponema carateum ICD9:103.3|ICD10:A67|ICD10:A67.1|UMLS:C0031946|ICD9:103.1|ICD10:A67.3|NCIT:C85011|ICD10:A67.9|MESH:D010874|ICD9:103.2|ICD9:103.9|GARD:0007397|ICD9:103.0|ICD9:103|SCTID:22064009|EFO:1001396|DOID:1022|ICD10:A67.2|ICD10:A67.0 NCBI Taxonomy appears to lack an entry for T carateum owl:Class GO:0016053 biolink:NamedThing organic acid biosynthetic process The chemical reactions and pathways resulting in the formation of organic acids, any acidic compound containing carbon in covalent linkage. tmpaxzxjjyw_mondo_relaxed.owl organic acid anabolism|organic acid synthesis|organic acid formation|organic acid biosynthesis owl:Class MONDO:0008051 biolink:NamedThing tubular aggregate myopathy Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported. tmpaxzxjjyw_mondo_relaxed.owl myopathy, tubular aggregate, type 1|TAM1|myopathy, tubular aggregate, 1|tubular aggregate myopathy GARD:0003884|Orphanet:2593|OMIM:615883|OMIM:160565|DOID:0080089|OMIMPS:160565|ICD10:G71.2 https://rarediseases.info.nih.gov/diseases/3884/tubular-aggregate-myopathy owl:Class MONDO:0014322 biolink:NamedThing premature ovarian failure 9 Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ovarian failure caused by mutation in HFM1|HFM1 primary ovarian failure|premature ovarian failure type 9|Pof9|premature ovarian failure 9 UMLS:C3810376|OMIM:615724 owl:Class MONDO:0011179 biolink:NamedThing leishmaniasis, tegumentary, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl leishmaniasis, tegumentary, susceptibility to OMIM:602068 owl:Class MONDO:0018008 biolink:NamedThing idiopathic giant cell myocarditis tmpaxzxjjyw_mondo_relaxed.owl IGCM Orphanet:329874|ICD10:I40.8 owl:Class HGNC:18374 biolink:NamedThing HPSE2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0023061 biolink:NamedThing signal release The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. tmpaxzxjjyw_mondo_relaxed.owl signal secretion owl:Class MONDO:0021482 biolink:NamedThing benign neoplasm of middle ear A benign neoplasm that involves the middle ear. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of middle Ear|benign middle Ear neoplasm|benign tumor of the middle Ear|middle ear benign neoplasm|benign neoplasm of the middle Ear|benign middle Ear tumor NCIT:C4602|ICD9:212.0|UMLS:C0347213|SCTID:92218002 owl:Class UBERON:0004245 biolink:NamedThing oviduct smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019568 biolink:NamedThing Ehlers-Danlos syndrome, classic type, 2 Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene. tmpaxzxjjyw_mondo_relaxed.owl Ehlers Danlos syndrome, mitis type, formerly|Ehlers-Danlos syndrome, type Ii, formerly|Ehlers-Danlos syndrome, type Ii|Ehlers Danlos syndrome, mild Classic type|EDS II|EDS II, formerly|Ehlers-Danlos syndrome, classic type, 2|Ehlers Danlos syndrome, mild Classic type, formerly|EDSCL2|Ehlers Danlos syndrome, mitis type UMLS:C0268336|NCIT:C125697|MESH:C536195|Orphanet:90318|ICD10:Q79.6|OMIM:130010 owl:Class NCBITaxon:2104 biolink:NamedThing Mycoplasma pneumoniae tmpaxzxjjyw_mondo_relaxed.owl Filterable agent of primary atypical pneumonia|Mycoplasmoides pneumoniae (Somerson et al. 1963) Gupta et al. 2018|Schizoplasma pneumoniae|Mycoplasmoides pneumoniae PMID:31971499|PMID:31385780|PMID:29556819|PMID:19871393|GC_ID:4|PMID:4867945 ncbi_taxonomy owl:Class MONDO:0044325 biolink:NamedThing Fanconi anemia, complementation group W tmpaxzxjjyw_mondo_relaxed.owl FANCW|Fanconi anemia, complementation group W OMIM:617784|UMLS:CN653907 owl:Class MONDO:0032862 biolink:NamedThing hydrocephalus, congenital communicating, 1 tmpaxzxjjyw_mondo_relaxed.owl HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1|HYDCC1 OMIM:618667 owl:Class MONDO:0017882 biolink:NamedThing Omsk hemorrhagic fever Omsk hemorrhagic fever (OHF), caused by Omsk hemorrhagic fever virus (OHFV), is a zoonotic disease characterized by fever, nausea, myalgia and moderately severe hemorrhagic manifestations as well as in some cases meningitis, pneumonia and nephrosis. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:319266|ICD9:065.1|GARD:0008254|MESH:D006481|ICD10:A98.1|DOID:992|MedDRA:10030310|SCTID:48113006|UMLS:C0019103 https://rarediseases.info.nih.gov/diseases/8254/omsk-hemorrhagic-fever owl:Class HGNC:7583 biolink:NamedThing MYL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021952 biolink:NamedThing autoimmune progesterone dermatitis Autoimmune progesterone dermatitis (APD) is primarily characterized by a recurrent skin rash that varies in severity depending on the phase of the menstrual cycle. The rash generally appears during the second half of the cycle when levels of the hormone, progesterone, begin to rise and it subsides shortly after menstruation. Although the exact underlying cause of APD is not well understood, it is thought to involve an abnormal immune reaction (autoimmune response) triggered by a woman's own progesterone. Depending on the severity of the condition, treatment may include topical (applied to the skin) medications, systemic corticosteroids, hormone therapy to suppress the production of progesterone, and/or surgical removal of the ovaries. tmpaxzxjjyw_mondo_relaxed.owl APD|autoimmune progesterone dermatitis|autoimmune progesterone urticaria|autoimmune progesterone dermatitis/urticaria|progesterone dermatitis GARD:0009139|MESH:C535299|ICD9:708.8|UMLS:C1260879|SCTID:400009001 https://rarediseases.info.nih.gov/diseases/9139/autoimmune-progesterone-dermatitis owl:Class CHEBI:50514 biolink:NamedThing vasoconstrictor agent Drug used to cause constriction of the blood vessels. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020599 biolink:NamedThing acquired coagulation factor deficiency Deficiency of a coagulation factor that is not caused by genetic alterations. Causes include vitamin K deficiency, amyloidosis, and severe liver disease. tmpaxzxjjyw_mondo_relaxed.owl acquired coagulation factor deficiency|acquired coagulation protein disease SCTID:25904003|UMLS:C0001169|NCIT:C34347 owl:Class PATO:0002027 biolink:NamedThing osmolality tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009127 biolink:NamedThing epibranchial ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010619 biolink:NamedThing X-linked dominant hypophosphatemic rickets X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth. tmpaxzxjjyw_mondo_relaxed.owl vitamin D-resistant rickets, X-linked|hypophosphatemic rickets, X-linked|hypophophatemic vitamin D-resistant rickets|HPDR|rickets, vitamin D-resistant|hypophophatemia, X-linked|hypophosphatemic rickets, X-linked dominant|XLH|X-linked hypophosphatemia|HYP|hypophosphatemia, vitamin D-resistant rickets|X-linked dominant hypophosphatemic rickets|X-linked hypophosphatemic rickets|hypophosphatemic rickets X-linked dominant|XLHR|X-linked hereditary hypophosphatemic rickets|hypophosphatemic vitamin D-resistant rickets|hypophosphatemia, X-linked|hereditary hypophosphatemic rickets, X-linked ICD10:E83.31|Orphanet:89936|DOID:0050445|GARD:0012943|SCTID:82236004|OMIM:307800|OMIM:300554|ICD10:E83.3 https://github.com/monarch-initiative/mondo/issues/2844 owl:Class MONDO:0009096 biolink:NamedThing hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy. tmpaxzxjjyw_mondo_relaxed.owl POLD|neuroaxonal leukodystrophy|adult-onset leukoencephalopathy with axonal spheroids and pigmented glia|HDLS|hereditary diffuse leukoencephalopathy with spheroids|gliosis, familial progressive subcortical|leukoencephalopathy, hereditary diffuse, with spheroids|leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia|leukoencephalopathy with neuroaxonal spheroids, autosomal dominant|adult-onset leukodystrophy with neuroaxonal spheroids|ALSP|GPSC|hereditary diffuse leukoencephalopathy with axonal spheroids|familial dementia, Neumann type|familial progressive subcortical gliosis|subcortical gliosis of Neumann|leukoencephalopathy, diffuse hereditary, with spheroids|FPSG|autosomal dominant leukoencephalopathy with neuroaxonal spheroids|dementia, familial, Neumann type|pigmentary orthochromatic leukodystrophy SCTID:702427005|Orphanet:313808|ICD9:323.81|ICD10:E75.2|NCIT:C153289|OMIM:221820|UMLS:C3711381|DOID:0080523|GARD:0010981|MESH:C580150 owl:Class MONDO:0007508 biolink:NamedThing Rapp-Hodgkin syndrome A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate. tmpaxzxjjyw_mondo_relaxed.owl Rapp-Hodgkin ectodermal dysplasia syndrome|RHS|Rapp-Hodgkin syndrome|ectodermal dysplasia, anhidrotic, with cleft lip-palate|ectodermal dysplasia, anhidrotic, with cleft Lip/palate|anhidrotic ectodermal dysplasia with cleft lip/palate|cleft lip with or without cleft palate, nonsyndromic, 8|OFC8, included|orofacial cleft 8 Orphanet:3022|Orphanet:1991|GARD:0005690|SCTID:7731005|OMIM:129400|UMLS:CN203427|MESH:C535289|DOID:0060330 Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably with those of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. These two syndromes were classified as separate disorders until it was discovered that they both result from mutations in the same part of the same gene. Most researchers now consider Rapp-Hodgkin syndrome and AEC syndrome to be part of the same disease spectrum https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome owl:Class NCBITaxon:299467 biolink:NamedThing Leptotrombidium deliense tmpaxzxjjyw_mondo_relaxed.owl scrub typhus mite GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:279271 biolink:NamedThing Leptotrombidium tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:6486 biolink:NamedThing LAMB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032564 biolink:NamedThing hennekam lymphangiectasia-lymphedema syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl HKLLS3|HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 OMIM:618154 owl:Class MONDO:0016222 biolink:NamedThing spindle cell hemangioma Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in KaposiBs sarcoma and located in the dermis and subcutis. tmpaxzxjjyw_mondo_relaxed.owl SCh|spindle -cell hemangioma|spindle cell hemangioendothelioma|spindle cell hemangioma Orphanet:210584|EFO:0002856|UMLS:C1304508|ICDO:9136/1|DOID:496|ICD10:D18.0|NCIT:C4754|ICDO:9136/0|SCTID:403967000 owl:Class MONDO:0005490 biolink:NamedThing large artery stroke Stroke caused by the blockage of blood flow in one of the large arteries feeding the brain. tmpaxzxjjyw_mondo_relaxed.owl EFO:0005524 Editor note: check this owl:Class MONDO:0002618 biolink:NamedThing undifferentiated high grade pleomorphic sarcoma of bone A rare, high-grade pleomorphic malignant neoplasm arising from the bone. It usually presents with pain which may or may not be associated with swelling in the affected area. It is characterized by the presence of spindle-shaped cells, polygonal or epithelioid cells, multinucleated giant cells, and inflammatory cells. The neoplastic cells exhibit nuclear pleomorphism and high mitotic activity. It metastasizes frequently, most often in the lungs. tmpaxzxjjyw_mondo_relaxed.owl malignant bone fibrous histiocytoma|malignant fibrous histiocytoma of the bone|undifferentiated high grade pleomorphic sarcoma of bone|undifferentiated high-grade pleomorphic sarcoma|undifferentiated high grade pleomorphic sarcoma|malignant fibrous histiocytoma of bone DOID:3352|NCIT:C8563|UMLS:C0740479 owl:Class MONDO:0015004 biolink:NamedThing dystonia 28, childhood-onset Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene. tmpaxzxjjyw_mondo_relaxed.owl dystonia 28, childhood-onset; DYT28|dystonia 28, childhood-onset|KMT2B dystonic disorder|DYT28|dystonic disorder caused by mutation in KMT2B OMIM:617284|Orphanet:589618|UMLS:C4310633 owl:Class NCBITaxon:436491 biolink:NamedThing Theropoda tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010131 biolink:NamedThing conducting tissue of heart tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000061 biolink:NamedThing placental amniotic mesenchymal stromal cell Any mesenchymal stem cell that is part of a placenta. tmpaxzxjjyw_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=7140 TermGenie 2014-10-07T17:51:11Z cell owl:Class MONDO:0031332 biolink:NamedThing Glanzmann thrombasthenia 1 A bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia tmpaxzxjjyw_mondo_relaxed.owl Thrombocytasthenia|deficiency of glycoprotein complex IIb-IIIa|GT|Platelet glycoprotein IIb-IIIa deficiency|glycoprotein Complex IIb-IIIa, deficiency of|Platelet fibrinogen receptor, deficiency of|bleeding disorder, Platelet-type, 2|BDPLT2|platelet glycoprotein IIb-IIIa deficiency|platelet-type bleeding disorder 2|Glanzmann's thrombasthenia|Platelet glycoprotein 2B 3A deficiency|Glanzmann thrombasthenia|glycoprotein IIb/IIIa defect|Diacyclothrombopathia 2B 3A|GP IIb-IIIa Complex, deficiency of|Glanzmann thrombasthenia 1|Glanzmann thrombasthenia type A|thrombasthenia|thrombasthenia of Glanzmann and Naegeli|deficiency of GP IIb-IIIa complex|deficiency of platelet fibrinogen receptor|deficiency of GP 2B 3A complex MESH:D013915|SCTID:32942005|OMIM:273800|NCIT:C61249|ICD10:D69.1|GARD:0002478|DOID:2219|Orphanet:849 owl:Class MONDO:0004296 biolink:NamedThing cervical lymphoepithelioma-like carcinoma A variant of cervical squamous cell carcinoma characterized by the presence of islands of cells with uniform, vesicular nuclei and prominent nucleoli and a dense lymphocytic infiltrate. tmpaxzxjjyw_mondo_relaxed.owl cervical lymphoepithelioma-like carcinoma UMLS:C1516418|NCIT:C40193|DOID:7598 owl:Class GO:0043043 biolink:NamedThing peptide biosynthetic process The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. tmpaxzxjjyw_mondo_relaxed.owl peptide anabolism|peptide biosynthesis|peptide synthesis|peptide formation owl:Class MONDO:0030963 biolink:NamedThing Li-Campeau syndrome tmpaxzxjjyw_mondo_relaxed.owl LICAS OMIM:619189 owl:Class MONDO:0014232 biolink:NamedThing craniosynostosis 5, susceptibility to Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene. tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis caused by mutation in ALX4|ALX4 craniosynostosis|CRS5|craniosynostosis 5, susceptibility to|susceptibility to craniosynostosis 5 Orphanet:35093|OMIM:615529 owl:Class UBERON:0013526 biolink:NamedThing otocyst lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018936 biolink:NamedThing osteoblastoma A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent. tmpaxzxjjyw_mondo_relaxed.owl osteoblastoma, benign|giant osteoid osteoma|osteoblastoma (disease)|osteoblastoma|ossifying giant cell tumor osteoblastoma (disease) DOID:0060098|ICD10:D16.4|EFO:1000410|NCIT:C3294|UMLS:C0029417|MedDRA:10004430|ICD10:D16.5|ICDO:9200/0|ICD10:D16.1|HP:0011846|ICD10:D16.7|ICD10:D16.0|ICD10:D16.8|ICD10:D16.6|MESH:D018215|ICD10:D16.3|Orphanet:58040 owl:Class MONDO:0022894 biolink:NamedThing craniosynostosis autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl GARD:0001588 https://rarediseases.info.nih.gov/diseases/1588/craniosynostosis-autosomal-dominant owl:Class GO:0060467 biolink:NamedThing negative regulation of fertilization Any process that decreases the rate, frequency or extent of fertilization. Fertilization is the union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013856 biolink:NamedThing hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes tmpaxzxjjyw_mondo_relaxed.owl hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes|hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes OMIM:614684|UMLS:C3553465 owl:Class UBERON:0036068 biolink:NamedThing subglottis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006275 biolink:NamedThing lung giant cell carcinoma A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion. tmpaxzxjjyw_mondo_relaxed.owl giant cell lung carcinoma|giant cell carcinoma of lung|giant cell carcinoma|lung giant cell carcinoma|giant cell carcinoma of the lung|GCLC SCTID:254631008|ONCOTREE:GCLC|UMLS:C0345960|ICD9:162.9|NCIT:C4452|DOID:5583|UMLS:C0206703|MESH:D018286|EFO:1000332 owl:Class GO:0003940 biolink:NamedThing L-iduronidase activity Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate. tmpaxzxjjyw_mondo_relaxed.owl glycosaminoglycan alpha-L-iduronohydrolase activity|alpha-L-iduronidase activity owl:Class GO:0016825 biolink:NamedThing hydrolase activity, acting on acid phosphorus-nitrogen bonds Catalysis of the hydrolysis of any acid phosphorus-nitrogen bond. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009141 biolink:NamedThing torsion dystonia 2 Primary dystonia DYT2 type is characterized by segmental dystonia that manifests with involuntary posturing affecting predominantly the feet. tmpaxzxjjyw_mondo_relaxed.owl dystonia 2, torsion, autosomal recessive|primary dystonia, DYT2 type|torsion dystonia type 2|dystonic disorder caused by mutation in HPCA|DYT2|HPCA dystonic disorder|dystonia musculorum deformans type 2|dystonia musculorum deformans 2|autosomal recessive torsion dystonia 2|torsion dystonia 2, autosomal recessive type Orphanet:99657|DOID:0090038|MESH:C538006|GARD:0002028|ICD10:G24.1|UMLS:C1857093|NCIT:C123415|OMIM:224500 owl:Class MONDO:0021237 biolink:NamedThing adrenal medulla neoplasm A neoplasm (disease) that involves the adrenal medulla. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of adrenal medulla|adrenal medulla tumor|tumor of adrenal medulla|adrenal medulla neoplasm (disease) NCIT:C4856|UMLS:C0596046 owl:Class MONDO:0044001 biolink:NamedThing hearing loss, mixed conductive-sensorineural Hearing loss characterized by a combination of conductive and sensorineural hearing loss. It is caused by problems in both the inner ear and middle or outer ear. tmpaxzxjjyw_mondo_relaxed.owl mixed hearing loss|hearing loss, mixed|mixed type deafness|mixed conductive and sensorineural deafness|hearing loss, mixed conductive sensorineural|loss, mixed hearing|mixed deafness|mixed conductive and sensorineural hearing loss|Losses, mixed hearing UMLS:C0155552|SCTID:77507001|NCIT:C26974|EFO:1001803|MESH:D046089 owl:Class MONDO:0010840 biolink:NamedThing pachygyria-intellectual disability-epilepsy syndrome A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated. tmpaxzxjjyw_mondo_relaxed.owl pachygyria with intellectual disability and seizures|pachygyria, intellectual disability and epilepsy|pachygyria, mental retardation and epilepsy|pachygyria with mental retardation and seizures|pachygyria with mental retardation, seizures, and arachnoid cysts|pachygyria with intellectual disability, seizures, and arachnoid cysts|Kuzniecky syndrome Orphanet:2798|SCTID:763861000|GARD:0000409|UMLS:C1838491|OMIM:600176|ICD10:G40.4|MESH:C538091 owl:Class MONDO:0003999 biolink:NamedThing juvenile pilocytic astrocytoma A pilocytic astrocytoma that occurs during adolescence. tmpaxzxjjyw_mondo_relaxed.owl juvenile pilocytic astrocytoma MESH:D001254|DOID:6811|NCIT:C27081|UMLS:C0280783 owl:Class MONDO:0011671 biolink:NamedThing Huntington disease-like 2 Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes characterized by a triad of movement, psychiatric, and cognitive abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Huntington disease-like 2|HDL2|Huntington disease-like type 2|Huntington's disease-like 2 MESH:C564708|DOID:0090104|Orphanet:98934|OMIM:606438|SCTID:721228006|UMLS:C1847987|ICD10:G10 owl:Class MONDO:0004332 biolink:NamedThing lung hilum cancer A malignant neoplasm involving the lung hilus. tmpaxzxjjyw_mondo_relaxed.owl malignant lung hilum neoplasm|primary malignant neoplasm of hilus of lung|malignant tumor of the lung hilum|cancer of lung hilus|malignant lung hilum tumor|malignant tumor of lung hilum|malignant lung hilus neoplasm|malignant neoplasm of lung hilum|lung hilus cancer|malignant neoplasm of lung hilus|malignant neoplasm of the lung hilum|malignant hilar lung tumor|malignant hilar lung neoplasm UMLS:C0346601|DOID:7696|NCIT:C4566|SCTID:93827000|UMLS:C2607931 owl:Class MONDO:0003639 biolink:NamedThing lung hilum neoplasm A benign or malignant neoplasm that arises from the hilar region of the lung. tmpaxzxjjyw_mondo_relaxed.owl lung hilus neoplasm (disease)|neoplasm of lung hilus|neoplasm of hilus of lung|lung hilum neoplasm|hilar lung neoplasm|tumor of lung hilus|hilar lung tumor|lung hilus tumor|lung hilum tumor|lung hilus neoplasm DOID:5767|UMLS:C1290358|SCTID:126707007|NCIT:C5671 owl:Class MONDO:0008940 biolink:NamedThing endosteal sclerosis-cerebellar hypoplasia syndrome Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl cerebellar hypoplasia with endosteal sclerosis UMLS:C1859301|Orphanet:85186|MESH:C535353|GARD:0001195|ICD10:Q87.8|OMIM:213002 owl:Class CL:0002031 biolink:NamedThing hematopoietic lineage restricted progenitor cell A hematopoietic progenitor cell that is capable of developing into only one lineage of hematopoietic cells. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-01-06T03:43:20Z cell owl:Class MONDO:0016461 biolink:NamedThing 5q35 microduplication syndrome The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation. tmpaxzxjjyw_mondo_relaxed.owl trisomy 5q35|dup(5)(q35) Orphanet:228415|ICD10:Q92.3|UMLS:CN201426|UMLS:C4304526|SCTID:719665003 owl:Class MONDO:0013488 biolink:NamedThing lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis tmpaxzxjjyw_mondo_relaxed.owl APLDC3|lipodystrophy, partial, acquired, associated with C3 nephritic Factor|lipodystrophy, partial, acquired, with LOW complement component C3, with or without glomerulonephritis UMLS:C3151347|OMIM:613913 owl:Class MONDO:0001778 biolink:NamedThing dermoid cyst of skin A benign hamartomatous tumor that possesses various epidermal derivatives and is due to sequestration of skin along the lines of embryonic closure. tmpaxzxjjyw_mondo_relaxed.owl skin dermoid|cutaneous dermoid cyst|dermoid cyst of skin|dermoid cyst of the skin|cystic skin teratoma|zone of skin dermoid cyst|skin dermoid cyst|subcutaneous dermoid cyst|dermoid cyst of skin (finding) DOID:13691|NCIT:C4632|UMLS:C0349502|SCTID:276729007 owl:Class MONDO:0006276 biolink:NamedThing lung inflammatory myofibroblastic tumor An intermediate fibroblastic neoplasm arising from the lung. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. tmpaxzxjjyw_mondo_relaxed.owl lung inflammatory myofibroblastic tumor|inflammatory myofibroblastic lung tumor UMLS:C1518038|ONCOTREE:IMTL|ICDO:8827/1|NCIT:C39740|EFO:1000333 owl:Class CL:0000878 biolink:NamedThing central nervous system macrophage A tissue-resident macrophage found in the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl CNS macrophage cell owl:Class CL:0000864 biolink:NamedThing tissue-resident macrophage A macrophage constitutively resident in a particular tissue under non-inflammatory conditions, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. tmpaxzxjjyw_mondo_relaxed.owl fixed macrophage|resting histiocyte FMA:84642|FMA:84644 cell owl:Class MONDO:0005660 biolink:NamedThing Avulavirus infectious disease Infections with viruses of the genus avulavirus, family paramyxoviridae. This includes newcastle disease and other infections of domestic fowl. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1258034|EFO:0007161|MESH:D045463 owl:Class MONDO:0022655 biolink:NamedThing cardiomyopathy hypogonadism metabolic anomalies tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931289|GARD:0001109 https://rarediseases.info.nih.gov/diseases/1109/cardiomyopathy-hypogonadism-metabolic-anomalies owl:Class MONDO:0012275 biolink:NamedThing fetal valproate syndrome Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication). tmpaxzxjjyw_mondo_relaxed.owl susceptibility to valproate embryopathy|fetal valproic acid syndrome|valproate embryopathy, susceptibility to|valproic acid embryopathy|FVS|fetal valproate syndrome DOID:0060471|GARD:0005447|NCIT:C98930|ICD9:759.89|Orphanet:1906|MedDRA:10016524|MESH:C536525|ICD10:Q86.8|OMIM:609442|UMLS:C0236026|SCTID:17231009 https://rarediseases.info.nih.gov/diseases/5447/fetal-valproate-syndrome owl:Class UBERON:0003416 biolink:NamedThing mesenchyme of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013740 biolink:NamedThing lethal occipital encephalocele-skeletal dysplasia syndrome Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. tmpaxzxjjyw_mondo_relaxed.owl radiohumeral fusions with other skeletal and craniofacial anomalies|RHFCA ICD10:Q87.5|OMIM:614416|UMLS:C3280729|Orphanet:293925 owl:Class MONDO:0025512 biolink:NamedThing type II hypersensitivity reaction disease A disease that has its basis in the disruption of type II hypersensitivity. tmpaxzxjjyw_mondo_relaxed.owl type II hypersensitivity disease|disorder of type II hypersensitivity DOID:417|EFO:0005809 Note that DO combines autoimmune and type II hypersensitivity in one concept (2018-06-22) owl:Class ENVO:01001206 biolink:NamedThing grassland ecosystem An ecosystem in which grasses (Graminae) are the dominant form of vegetation and determine the system's structure and dynamics. tmpaxzxjjyw_mondo_relaxed.owl Grassland|grassland|downland|GRASSLAND|down|downs|glade|herbaceous area|grazing area owl:Class NBO:0000306 biolink:NamedThing memory storage behavior "Behavior related with the ability of an organism's ability to store information and experiences." [NBO:GVG] tmpaxzxjjyw_mondo_relaxed.owl memory storage behaviour owl:Class HGNC:3483 biolink:NamedThing ETFDH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006380 biolink:NamedThing pleural sarcomatoid mesothelioma Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma. tmpaxzxjjyw_mondo_relaxed.owl sarcomatoid mesothelioma of pleura|pleural sarcomatoid mesothelioma|pleura sarcomatoid mesothelioma EFO:1000486|UMLS:C1709578|NCIT:C45663 owl:Class UBERON:8300004 biolink:NamedThing left hindlimb tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002112 biolink:NamedThing B220-positive CD38-negative unswitched memory B cell A B220-positive CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-positive, CD38-negative, IgD-positive, CD138-negative, and IgG-negative. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0002111 biolink:NamedThing CD38-negative unswitched memory B cell An CD38-negative unswitched memory B cell is an unswitched memory B cell that has the phenotype CD38-negative, IgD-positive, CD138-negative, and IgG-negative. tmpaxzxjjyw_mondo_relaxed.owl CD38-negative unswitched memory B lymphocyte|CD38- unswitched memory B-lymphocyte|CD38- unswitched memory B cell|CD38-negative unswitched memory B-lymphocyte|CD38-negative unswitched memory B-cell|CD38- unswitched memory B lymphocyte|CD38- unswitched memory B-cell cell owl:Class MONDO:0012588 biolink:NamedThing neuronal ceroid lipofuscinosis 7 Neuronal ceroid lipofuscinosis 7 (CLN7-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 5 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). CLN7-NCL is caused by changes (mutations) in the MFSD8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpaxzxjjyw_mondo_relaxed.owl ceroid lipofuscinosis, neuronal, 7|CLN7 disease, late infantile|MFSD8 neuronal ceroid lipofuscinosis|CLN7|ceroid lipofuscinosis, neuronal, type 7|neuronal ceroid lipofuscinosis caused by mutation in MFSD8|neuronal ceroid lipofuscinosis type 7|CLN7 disease|neuronal ceroid lipofuscinosis 7 MESH:C563989|GARD:0001220|Orphanet:228366|DOID:0110722|Orphanet:168491|ICD10:E75.4|OMIM:610951 https://rarediseases.info.nih.gov/diseases/1220/neuronal-ceroid-lipofuscinosis-7 owl:Class CL:0011012 biolink:NamedThing neural crest cell A cell of the neural crest. Neural crest cells are multipotent. Premigratory neural crest cells are found at the neural plate boarder, some of which will undergo ectomesynchymal transition and delamination to form migratory neural crest cells. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0002695 biolink:NamedThing sagittal sinus thrombosis Formation or presence of a blood clot (thrombus) in the superior sagittal sinus or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, craniocerebral trauma; and neurosurgical procedures. Clinical features are primarily related to the increased intracranial pressure causing headache; nausea; and vomiting. Severe cases can evolve to seizures or coma. tmpaxzxjjyw_mondo_relaxed.owl thrombosis of superior sagittal sinus|thrombosis of superior longitudinal sinus DOID:3576|MESH:D020225|UMLS:C0338575|SCTID:192760003 owl:Class MONDO:0060640 biolink:NamedThing neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy|NEDMEBA OMIM:617862|UMLS:CN787271 owl:Class UBERON:0005711 biolink:NamedThing foregut duodenum mesentery tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6684 biolink:NamedThing Dendrobranchiata tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004153 biolink:NamedThing childhood central nervous system embryonal carcinoma An embryonal carcinoma that arises from the central nervous system and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl pediatric embryonal carcinoma of the central nervous system|embryonal carcinoma of the central nervous system of childhood|embryonal carcinoma of the pediatric central nervous system|childhood central nervous system embryonal carcinoma|embryonal carcinoma of the childhood CNS|embryonal carcinoma of the pediatric CNS|embryonal carcinoma of the childhood central nervous system|embryonal carcinoma of pediatric CNS|embryonal carcinoma of childhood CNS|pediatric CNS embryonal cell carcinoma|childhood CNS embryonal cell carcinoma|childhood embryonal carcinoma of the central nervous system|embryonal carcinoma of childhood central nervous system|pediatric central nervous system embryonal carcinoma|embryonal carcinoma of pediatric central nervous system NCIT:C6208|DOID:7231|UMLS:C1377605 owl:Class UBERON:0014491 biolink:NamedThing middle phalanx of digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:28216 biolink:NamedThing COX14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013523 biolink:NamedThing Nestor-Guillermo progeria syndrome tmpaxzxjjyw_mondo_relaxed.owl PSCOO|Nestor-Guillermo progeria syndrome|NGPS|progeria syndrome, childhood-onset, with osteolysis OMIM:614008|ICD10:E34.8|Orphanet:280576|UMLS:C3151446|GARD:0011008 https://rarediseases.info.nih.gov/diseases/11008/nestor-guillermo-progeria-syndrome owl:Class MONDO:0012602 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 24 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in RDX|autosomal recessive nonsyndromic deafness 24|RDX autosomal recessive nonsyndromic deafness|autosomal recessive deafness 24|DFNB24|autosomal recessive nonsyndromic deafness type 24|deafness, autosomal recessive 24|deafness, autosomal recessive type 24 ICD10:H90.3|DOID:0110482|UMLS:C1970239|MESH:C567027|OMIM:611022 owl:Class NCBITaxon:5765 biolink:NamedThing Vahlkampfiidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011371 biolink:NamedThing hydroa vacciniforme, familial An instance of hydroa vacciniforme that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hydroa vacciniforme, familial|familial hydroa vacciniforme|hereditary hydroa vacciniforme OMIM:603794|GARD:0010079|UMLS:C1863533|MESH:C536077 https://rarediseases.info.nih.gov/diseases/10079/hydroa-vacciniforme-familial owl:Class NCBITaxon:816 biolink:NamedThing Bacteroides tmpaxzxjjyw_mondo_relaxed.owl Ristella|Capsularis GC_ID:11 ncbi_taxonomy owl:Class HGNC:2468 biolink:NamedThing SMC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008326 biolink:NamedThing pseudocholinesterase, increase in plasma level of tmpaxzxjjyw_mondo_relaxed.owl pseudocholinesterase, increase in plasma level OF 2022-04-01 OMIM:177600 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0012237 biolink:NamedThing nemaline myopathy 6 Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene. tmpaxzxjjyw_mondo_relaxed.owl NEM6|nemaline myopathy 6, autosomal dominant|nemaline myopathy caused by mutation in KBTBD13|KBTBD13 nemaline myopathy|nemaline myopathy type 6|nemaline myopathy 6 MESH:C538398|Orphanet:607|OMIM:609273|DOID:0110935|UMLS:C1836472 owl:Class MONDO:0005322 biolink:NamedThing ulna fracture Fractures of the larger bone of the forearm. tmpaxzxjjyw_mondo_relaxed.owl ulna bone fracture|bone fracture of ulna EFO:0003950|MESH:D014458|SCTID:54556006 owl:Class MONDO:0014911 biolink:NamedThing growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy A rare, genetic, syndromic intellectual disability disease characterized by severe intrauterine and post-natal growth delay, moderate to severe intellectual disability, and neonatal-onset hepatopathy with fibrosis, steatosis, and/or cholestasis, occasionally leading to liver failure. Additional variable manifestations include muscular hypotonia, zinc deficiency, recurrent infections, diabetes mellitus, joint contractures, skin and joint laxity, hypervitaminosis D, and sensorineural hearing loss. tmpaxzxjjyw_mondo_relaxed.owl Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy|GRIDHH|growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; GRIDHH EFO:0009155|Orphanet:541423|OMIM:617093|UMLS:C4310720 owl:Class MONDO:0020752 biolink:NamedThing myoclonic epilepsy, juvenile, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl EJM1 The OMIM entry is named generically, the same as the PS (https://omim.org/phenotypicSeries/PS254770) but it refers to a susceptibility conferred by a specific gene. https://github.com/monarch-initiative/mondo/issues/1348|https://github.com/monarch-initiative/mondo/issues/4147 owl:Class MONDO:0009797 biolink:NamedThing orotic aciduria An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine. tmpaxzxjjyw_mondo_relaxed.owl orotate phosphoribosyltransferase and OMP decarboxylase deficiency|orotic aciduria 1|orotic aciduria|orotic aciduria without megaloblastic Anemia|Umps deficiency|oroticaciduria 1|oroticaciduria|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency|Ump synthase deficiency|uridine monophosphate synthase deficiency|orotic aciduria type 1|UMP synthtase deficiency|UMPS|OPRT and ODC deficiency|orotic aciduria II (formerly)|uridine monophosphate synthetase deficiency|hereditary orotic aciduria GARD:0005429|MedDRA:10052621|OMIM:258900|Orphanet:30|SCTID:47641009|NCIT:C98944|DOID:0050833|ICD10:E79.8 owl:Class NCBITaxon:119225 biolink:NamedThing Protomacleaya tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6296 biolink:NamedThing Onchocercidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:6297|NCBITaxon:33297 ncbi_taxonomy owl:Class GO:0007059 biolink:NamedThing chromosome segregation The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. tmpaxzxjjyw_mondo_relaxed.owl chromosome division|chromosome transmission owl:Class MONDO:0004150 biolink:NamedThing breast giant fibroadenoma A breast fibroadenoma characterized by a very large size. This term has also been used as a synonym for juvenile fibroadenoma by some authors. The latter is characterized by epithelial hyperplasia and an increased stromal cellularity. tmpaxzxjjyw_mondo_relaxed.owl breast giant fibroadenoma|giant fibroadenoma of the breast|giant fibroadenoma|giant breast fibroadenoma|giant fibroadenoma of breast DOID:7223|ICDO:9016/0|UMLS:C0346157|SCTID:254846003|NCIT:C4273|UMLS:C0334500 owl:Class HP:0010866 biolink:NamedThing Abdominal wall defect An incomplete closure of the abdominal wall. tmpaxzxjjyw_mondo_relaxed.owl Congenital anterior abdominal wall defect|Abdominal wall defect UMLS:C0238577 peter 2010-08-03T09:55:15Z human_phenotype owl:Class MONDO:0060533 biolink:NamedThing microcephaly, short stature, and limb abnormalities tmpaxzxjjyw_mondo_relaxed.owl MISSLA|microcephaly, short stature, and limb abnormalities OMIM:617604|UMLS:C4539873 owl:Class MONDO:0010931 biolink:NamedThing vitamin D-dependent rickets, type 2B Rickets caused by a post-receptor defect in the vitamin D signaling pathway producing vitamin D resistance due to constitutive overexpression of a nuclear ribonucleoprotein that competes with the vitamin D receptor-retinoid X receptor dimer binding with DNA vitamin D response elements. This condition has a similar phenotype to vitamin D receptor deficiency rickets including elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations. tmpaxzxjjyw_mondo_relaxed.owl VDDR2B|vitamin D-dependent rickets, type 2B, with normal vitamin D receptor|vitamin D receptor signaling defect rickets|hereditary 1,25 dihydroxyvitamin D-resistant rickets with abnormal vitamin D receptor without alopecia|vitamin D-dependent rickets type II without alopecia|vitamin D dependent rickets 2b|vitamin D resistant rickets NCIT:C131076|OMIM:600785|UMLS:C2748783|SCTID:237895001|Orphanet:93160 owl:Class MONDO:0020233 biolink:NamedThing dentocutaneous disease with cataract tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN207061|Orphanet:98649 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: integumentary system disease' MONDO_0002051 owl:Class MONDO:0003906 biolink:NamedThing ovarian yolk sac tumor, hepatoid pattern A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue. tmpaxzxjjyw_mondo_relaxed.owl ovarian yolk Sac tumor, hepatoid pattern|hepatoid pattern ovarian yolk sac tumor UMLS:C1518748|NCIT:C39989|DOID:6512 owl:Class GO:1904676 biolink:NamedThing negative regulation of somatic stem cell division Any process that stops, prevents or reduces the frequency, rate or extent of somatic stem cell division. tmpaxzxjjyw_mondo_relaxed.owl inhibition of somatic stem cell division|down-regulation of somatic stem cell division|downregulation of somatic stem cell division|downregulation of somatic stem cell renewal|negative regulation of somatic stem cell renewal|down regulation of somatic stem cell renewal|down regulation of somatic stem cell division|down-regulation of somatic stem cell renewal|inhibition of somatic stem cell renewal owl:Class MONDO:0010707 biolink:NamedThing Paine syndrome tmpaxzxjjyw_mondo_relaxed.owl microcephaly with spastic diplegia|Paine syndrome|Seemanova syndrome 1 UMLS:C1412041|OMIM:311400|MESH:C538101|GARD:0009780 https://rarediseases.info.nih.gov/diseases/9780/paine-syndrome owl:Class MONDO:0014091 biolink:NamedThing mitochondrial complex V (ATP synthase) deficiency nuclear type 4 Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial complex deficiency caused by mutation in ATP5F1A|MC5DN4|ATP5F1A mitochondrial complex deficiency|mitochondrial Complex 5 (ATP synthase) deficiency, ATP5A1 type|mitochondrial complex V (ATP synthase) deficiency, nuclear type 4|mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4 OMIM:615228|UMLS:C3808899|DOID:0060333|Orphanet:254913|ICD10:E88.8 owl:Class MONDO:0016769 biolink:NamedThing linear lichen planus Linear lichen planus (LLP), also referred to as Blaschkoid LP, is a rare type of lichen planus characterized by a linear distribution of lichenoid lesions along the lines of Blaschko, which are embryonic pathways of skin development. tmpaxzxjjyw_mondo_relaxed.owl llp|Blaschkoid lichen planus|Blaschkoid LP|linear LP GARD:0011898|SCTID:44509000|ICD10:L43.8|UMLS:C0023650|Orphanet:254379 https://rarediseases.info.nih.gov/diseases/11898/linear-lichen-planus owl:Class CHEBI:24734 biolink:NamedThing hydroxyphenylalanine tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021905 biolink:NamedThing apert-like polydactyly syndrome tmpaxzxjjyw_mondo_relaxed.owl apert like polydactyly syndrome GARD:0000746 https://rarediseases.info.nih.gov/diseases/746/apert-like-polydactyly-syndrome owl:Class UBERON:0016552 biolink:NamedThing phlegm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012944 biolink:NamedThing chromosome 17P13.3, telomeric, duplication syndrome tmpaxzxjjyw_mondo_relaxed.owl chromosome 17P13.3, telomeric, duplication syndrome|split-hand/foot malformation with long bone deficiency 3 MESH:C567245|Orphanet:3329|OMIM:612576|UMLS:C2675492 owl:Class MONDO:0021499 biolink:NamedThing benign neoplasm of cerebellum A benign neoplasm that involves the cerebellum. tmpaxzxjjyw_mondo_relaxed.owl cerebellum benign neoplasm|benign cerebellar tumor|benign tumor of cerebellum|benign tumor of the cerebellum|benign cerebellar neoplasms|benign cerebellar neoplasm|neoplasms, cerebellar, benign|benign neoplasm of the cerebellum|neoplasms, benign, cerebellar|cerebellar neoplasms, benign NCIT:C4955|SCTID:92050000 owl:Class HGNC:30778 biolink:NamedThing GATAD2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009205 biolink:NamedThing lateral nasal process mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009010 biolink:NamedThing aortic arch interruption Aortic arch interruption is a rare heart defect characterized by complete lack of anatomical continuity between the transverse aortic arch and the descending thoracic aorta. AAI should be distinguished anatomically from atresia of the aortic arch where continuity between these segments is achieved by an imperforate fibrous strand of various lengths. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q25.21|ICD10:Q20.1|ICD9:745.11|GARD:0000740|Orphanet:2299|MedDRA:10022599|ICD10:Q25.4 https://rarediseases.info.nih.gov/diseases/740/aortic-arch-interruption owl:Class HGNC:7683 biolink:NamedThing NDUFA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019637 biolink:NamedThing renal hypoplasia Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively) have a deficit in the number of nephrons and may be small. Oligomeganephronia represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied. tmpaxzxjjyw_mondo_relaxed.owl renal hypoplasia (disease)|renal hypoplasia renal hypoplasia (disease) Orphanet:93101|ICD10:Q60.4|MedDRA:10049102|ICD10:Q60.5|HP:0000089|ICD10:Q60.3|DOID:0080204|SCTID:32659003 owl:Class MONDO:0003589 biolink:NamedThing liposarcoma of the ovary A malignant adipose tissue neoplasm of the ovary. tmpaxzxjjyw_mondo_relaxed.owl ovarian liposarcoma|ovary liposarcoma|liposarcoma of ovary DOID:5697|UMLS:C1335165|NCIT:C6419 owl:Class GO:0008217 biolink:NamedThing regulation of blood pressure Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. tmpaxzxjjyw_mondo_relaxed.owl control of blood pressure|blood pressure regulation|blood pressure homeostasis owl:Class MONDO:0001038 biolink:NamedThing perforated corneal ulcer tmpaxzxjjyw_mondo_relaxed.owl DOID:10445|UMLS:C0151844|ICD10:H16.07|ICD9:370.06|SCTID:46606001 owl:Class MONDO:0100355 biolink:NamedThing classic or non-classic genetic disease presentation A classic (severe) or non-classic (mild or intermediate) form of a genetic disease. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3221 owl:Class GO:0044058 biolink:NamedThing regulation of digestive system process Any process that modulates the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007241 biolink:NamedThing bundle branch block, familial isolated complete right tmpaxzxjjyw_mondo_relaxed.owl bundle branch block, familial isolated complete right OMIM:113950|UMLS:C0340504|MESH:C562759|SCTID:233919006 owl:Class ECTO:0001108 biolink:NamedThing exposure to aflatoxin An exposure to aflatoxin. tmpaxzxjjyw_mondo_relaxed.owl exposure to aflatoxin owl:Class MONDO:0016332 biolink:NamedThing hypertrophic cardiomyopathy due to intensive athletic training tmpaxzxjjyw_mondo_relaxed.owl Orphanet:217601|UMLS:CN226904|ICD10:I42.2 owl:Class MONDO:0018225 biolink:NamedThing ALK-positive large B-cell lymphoma Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma is a very rare variant of diffuse large B-cell lymphoma (DLBCL) mainly affecting middle-aged immunocompetent men and characterized by a consistent primary involvement of lymph nodes (mainly in the cervical and mediastinum lymph nodes) and with infrequent extra nodal involvement of the bone marrow and other extra-nodal sites (head and neck region, liver, spleen, and gastrointestinal tract). It has an aggressive disease course, and is associated with a poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl ALK-DLBCL|ALK+ large B-cell lymphoma|ALK+ LBCL|diffuse large B-cell lymphoma with expression of full-length anaplastic lymphoma kinase|diffuse large B-cell lymphoma with expression of full-length ALK|ALK-positive large B-cell lymphoma ICDO:9737/3|Orphanet:364043|NCIT:C7225|ICD10:C83.3|SCTID:715950008|UMLS:C1333294 owl:Class CL:0002571 biolink:NamedThing hepatic mesenchymal stem cell A mesenchymal stem cell of liver. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-01T09:58:51Z cell owl:Class GO:0008483 biolink:NamedThing transaminase activity Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid. tmpaxzxjjyw_mondo_relaxed.owl aminotransferase activity owl:Class MONDO:0007603 biolink:NamedThing Felty syndrome Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections. tmpaxzxjjyw_mondo_relaxed.owl rheumatoid arthritis with splenoadenomegaly and leukopenia|splenomegaly-neutropenia-rheumatoid arthritis syndrome|familial Felty's syndrome|Felty syndrome|rheumatoid arthritis, splenomegaly and neutropenia|Felty's syndrome NCIT:C84712|GARD:0008234|UMLS:C0015773|Orphanet:47612|ICD10:M05.0|SCTID:57160007|EFO:0007269|OMIM:134750|ICD10:M05.00|MESH:D005258|MedDRA:10016386|DOID:11042|ICD9:714.1 https://rarediseases.info.nih.gov/diseases/8234/feltys-syndrome owl:Class NCBITaxon:62324 biolink:NamedThing Anopheles funestus tmpaxzxjjyw_mondo_relaxed.owl African malaria mosquito GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:59142 biolink:NamedThing funestus group tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0007378 biolink:NamedThing Neoplasm of the gastrointestinal tract A tumor (abnormal growth of tissue) of the gastrointestinal tract. tmpaxzxjjyw_mondo_relaxed.owl Neoplasm of the GI tract|Gastrointestinal tract tumor|Gastrointestinal tract neoplasm|GI tract tumor|Gastrointestinal tract tumour|GI tract tumour|Gastrointestinal tract neoplasia SNOMEDCT_US:126768004|NCIT:C3262|MSH:D005770|UMLS:C0017185 peter 2008-04-01T11:55:00Z human_phenotype owl:Class MONDO:0016116 biolink:NamedThing generalized bulbospinal muscular atrophy tmpaxzxjjyw_mondo_relaxed.owl ICD10:G12.2|Orphanet:206710 owl:Class GO:0046916 biolink:NamedThing cellular transition metal ion homeostasis Any process involved in the maintenance of an internal steady state of transition metal ions at the level of a cell. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001647 biolink:NamedThing benign renovascular hypertension tmpaxzxjjyw_mondo_relaxed.owl ICD9:405.11|DOID:13145 owl:Class MONDO:0001646 biolink:NamedThing benign secondary hypertension Mild to moderate high blood pressure that is caused by an underlying medical condition. tmpaxzxjjyw_mondo_relaxed.owl ICD9:405.19|UMLS:C0155620|ICD9:405.1|SCTID:194785008|NCIT:C3658|DOID:13143 owl:Class HGNC:2897 biolink:NamedThing DLC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011649 biolink:NamedThing AVSD 1 tmpaxzxjjyw_mondo_relaxed.owl AVC defect|endocardial cushion defect|AVSD|atrioventricular septal defect|atrioventricular canal defect|atrioventricular septal defect, susceptibility to, 1 OMIM:606215|Orphanet:98722 owl:Class MONDO:0004529 biolink:NamedThing non-ossifying fibromyxoid tumor A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. Metaplastic bone formation is not present. tmpaxzxjjyw_mondo_relaxed.owl nonossifying fibromyxoma|nonossifying fibromyxoid tumor|nonossifying fibromyxoid neoplasm NCIT:C6583|DOID:8305|UMLS:C1335063 owl:Class MONDO:0037745 biolink:NamedThing fibromyxoid tumor A soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle-shaped to round cells in a fibromyxoid stroma. Metaplastic bone formation may or may not be present. tmpaxzxjjyw_mondo_relaxed.owl fibromyxoid neoplasm|fibromyxoma|fibromyxoma, benign|fibromyxoid tumor ICDO:8811/0|NCIT:C66760 owl:Class UBERON:0005652 biolink:NamedThing pedal digit 5 epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29079 biolink:NamedThing KDM1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010969 biolink:NamedThing cone-rod dystrophy 5 Any cone-rod dystrophy in which the cause of the disease is a mutation in the PITPNM3 gene. tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy type 5|PITPNM3 cone-rod dystrophy|CORD5|cone-rod dystrophy caused by mutation in PITPNM3|cone-rod dystrophy 5 UMLS:C1832976|DOID:0111010|OMIM:600977|MESH:C563415|GARD:0010655 https://rarediseases.info.nih.gov/diseases/10655/cone-rod-dystrophy-5 owl:Class MONDO:0015367 biolink:NamedThing Charlie M syndrome Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis. The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.0|GARD:0001261|Orphanet:1406|SCTID:733034007|UMLS:C4518555|UMLS:CN199458|UMLS:C0221060 https://rarediseases.info.nih.gov/diseases/1261/charlie-m-syndrome owl:Class HGNC:2938 biolink:NamedThing DMXL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018034 biolink:NamedThing thalidomide embryopathy A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment. tmpaxzxjjyw_mondo_relaxed.owl thalidomide embryopathy syndrome|thalidomide-induced birth defect|fetal thalidomide syndrome ICD10:Q86.8|UMLS:C0432365|NCIT:C99082|GARD:0002313|MedDRA:10071249|Orphanet:3312|ICD9:759.89|SCTID:36193003 owl:Class MONDO:0007559 biolink:NamedThing photoparoxysmal response 1 tmpaxzxjjyw_mondo_relaxed.owl photoparoxysmal response 1|Photoconvulsive reaction|PPR1|epilepsy, photogenic|photosensitivity|Ppr Orphanet:166409|OMIM:132100|UMLS:C1868677 owl:Class MONDO:0012390 biolink:NamedThing arthrogryposis multiplex with deafness, inguinal hernias, and early death tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis multiplex with deafness, inguinal hernias, and early death GARD:0009946|UMLS:C1864939|OMIM:610001|MESH:C535381 https://rarediseases.info.nih.gov/diseases/9946/arthrogryposis-multiplex-with-deafness-inguinal-hernias-and-early-death owl:Class MONDO:0001978 biolink:NamedThing regional ureteric cancer Carcinoma of the ureter without spread to any other region. tmpaxzxjjyw_mondo_relaxed.owl regional ureteric carcinoma|regional ureter carcinoma|regional malignant ureteral tumor UMLS:C0854921|DOID:14491|NCIT:C9356 owl:Class MONDO:0010639 biolink:NamedThing laryngeal abductor paralysis-intellectual disability syndrome Laryngeal abductor paralysis-intellectual disability syndrome is characterised by congenital and permanent laryngeal abductor paralysis, associated, in the majority of cases, with intellectual deficit. It has been described in several families. X-linked inheritance is likely. tmpaxzxjjyw_mondo_relaxed.owl vocal cord dysfunction, familial|Plott syndrome|laryngeal abductor paralysis SCTID:724178000|UMLS:CN201604|ICD10:J38.0|OMIM:308850|Orphanet:2375 X linked version based on information from Joanna. owl:Class MONDO:0018765 biolink:NamedThing cryptogenic multifocal ulcerous stenosing enteritis tmpaxzxjjyw_mondo_relaxed.owl CMUSE Orphanet:468635|UMLS:C4302263|SCTID:722849002 owl:Class HGNC:2295 biolink:NamedThing CP tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016830 biolink:NamedThing carbon-carbon lyase activity Catalysis of the cleavage of C-C bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. tmpaxzxjjyw_mondo_relaxed.owl other carbon-carbon lyase activity owl:Class MONDO:0019550 biolink:NamedThing hereditary motor and sensory neuropathy with acrodystrophy Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999. tmpaxzxjjyw_mondo_relaxed.owl HMSN with acrodystrophy|autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy|autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy|AR-CMT2 with acrodystrophy Orphanet:90119|UMLS:CN206379|ICD10:G60.0 owl:Class MONDO:0043079 biolink:NamedThing acute articular rheumatism tmpaxzxjjyw_mondo_relaxed.owl acute rheumatic arthritis|acute rheumatism|acute articular rheumatism GARD:0000518|SCTID:81077008 owl:Class MONDO:0008120 biolink:NamedThing spinocerebellar ataxia type 7 Spinocerebellar ataxia type 7 (SCA7), currently the only known form of autosomal dominant cerebellar ataxia type 2 (ADCA2), is a neurodegenerative disorder characterized by progressive ataxia, motor system abnormalities, dysarthria, dysphagia and retinal degeneration leading to progressive blindness. tmpaxzxjjyw_mondo_relaxed.owl OPCA III|olivopontocerebellar atrophy 3|ADCA, type II|SCA7|autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7|Adca, type 2|spinocerebellar ataxia type 7|OPCA with macular Degeneration and external ophthalmoplegia|OPCA 3|autosomal dominant cerebellar ataxia, type 2|spinocerebellar ataxia 7|ATXN7 autosomal dominant cerebellar ataxia type II|cerebellar syndrome-pigmentary maculopathy syndrome|OPCA with retinal Degeneration|OPCA3|ataxia with pigmentary retinopathy NCIT:C126562|ICD10:G11.8|UMLS:C0752125|Orphanet:94147|SCTID:715726000|DOID:0050958|OMIM:164500|GARD:0004955 owl:Class MONDO:0011118 biolink:NamedThing bilineal acute myeloid leukemia An acute leukemia of ambiguous lineage in which there is a dual population of blasts with each population expressing markers of a distinct lineage (myeloid and lymphoid or B-and T-lymphocyte). (WHO, 2001) -- 2003 tmpaxzxjjyw_mondo_relaxed.owl acute bilineal leukemia|bilineal acute leukemia NCIT:C6923|UMLS:C0349680|Orphanet:98836|ICD10:C95.0 owl:Class UBERON:0013772 biolink:NamedThing left nipple tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21237 biolink:NamedThing UQCC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017405 biolink:NamedThing 1p21.3 microdeletion syndrome 1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder. tmpaxzxjjyw_mondo_relaxed.owl monosomy 1p21.3|Del(1)p(21.3) UMLS:C4304578|Orphanet:293948|ICD10:Q93.5|SCTID:719600006|UMLS:CN203152 owl:Class GO:0016454 biolink:NamedThing C-palmitoyltransferase activity Catalysis of the transfer of a palmitoyl group to a carbon atom on the acceptor molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015381 biolink:NamedThing commissural lip fistula A cysts and fistulae of the face and oral cavity that involves the labial commissure. tmpaxzxjjyw_mondo_relaxed.owl cysts and fistulae of the face and oral cavity of labial commissure|labial commissure cysts and fistulae of the face and oral cavity ICD10:Q38.0|Orphanet:141061 owl:Class GO:0031975 biolink:NamedThing envelope A multilayered structure surrounding all or part of a cell; encompasses one or more lipid bilayers, and may include a cell wall layer; also includes the space between layers. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008135 biolink:NamedThing optic atrophy 13 with retinal and foveal abnormalities tmpaxzxjjyw_mondo_relaxed.owl optic atrophy with negative Electroretinograms|optic atrophy 13 with retinal and foveal abnormalities OMIM:165510|MESH:C563494|UMLS:C1833799 owl:Class MONDO:0012150 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl Adhd2|attention deficit-hyperactivity disorder, susceptibility to, 2|attention Deficit-hyperactivity disorder, susceptibility to, type 2 OMIM:608904 owl:Class CHEBI:35346 biolink:NamedThing 11beta-hydroxy steroid Any 11-hydroxy steroid in which the hydroxy group at position 11 has beta- configuration. tmpaxzxjjyw_mondo_relaxed.owl 11beta-hydroxy steroids|11beta-hydroxysteroids|an 11beta-hydroxysteroid|11beta-Hydroxysteroid owl:Class MONDO:0009491 biolink:NamedThing Haim-Munk syndrome Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. tmpaxzxjjyw_mondo_relaxed.owl keratosis palmoplantaris with periodontopathia and onychogryposis|palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome|palmoplantar keratoderma-periodontopathia-onychogryposis syndrome|HMS|HAIM-Munk syndrome|Haim-Munk syndrome|Cochin Jewish disorder|keratosis palmoplantaris-periodontopathia-onychogryposis syndrome ICD10:Q82.8|SCTID:719973009|Orphanet:2342|MESH:C537627|OMIM:245010|GARD:0000044|UMLS:C1855627 https://rarediseases.info.nih.gov/diseases/44/haim-munk-syndrome owl:Class MONDO:0002648 biolink:NamedThing mammary Paget disease A malignant neoplasm in which there is infiltration of the skin overlying the breast by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It is almost always associated with an intraductal or invasive ductal carcinoma of the breast. The clinical features include focal skin reddening, and eczema. Retraction of the nipple may sometimes occur. tmpaxzxjjyw_mondo_relaxed.owl Paget's disease of breast|mammary Paget's disease|Paget cell neoplasm|Paget's disease of the breast|mammary Paget disease|breast Paget disease|Paget disease of the breast DOID:3443|ICDO:8540/3|NCIT:C47857|UMLS:CN200478 owl:Class HGNC:7373 biolink:NamedThing MSN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018694 biolink:NamedThing isolated tracheo-esophageal fistula A congenital or acquired abnormal communication between the trachea and the esophagus. tmpaxzxjjyw_mondo_relaxed.owl H-type tracheoesophageal fistula|isolated tracheoesophageal fistula|tracheo-esophageal fistula|tracheoesophageal fistula NCIT:C35080|ICD10:Q39.2|Orphanet:454750 owl:Class CL:0001068 biolink:NamedThing ILC1 A group 1 innate lymphoid cell that is non-cytotoxic. tmpaxzxjjyw_mondo_relaxed.owl 2017-01-30 20:54:12+00:00 cell owl:Class CL:0001067 biolink:NamedThing group 1 innate lymphoid cell An innate lymphoid cell that is capable of producing the type 1 cytokine IFN-gamma, but not Th2 or Th17 cell-associated cytokines. tmpaxzxjjyw_mondo_relaxed.owl 2017-01-30 20:42:44+00:00 cell owl:Class MONDO:0037743 biolink:NamedThing mediastinal soft tissue cancer A malignant neoplasm that arises from the soft tissues of the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl malignant mediastinal soft tissue tumor|malignant soft tissue neoplasm of mediastinum|malignant mediastinal soft tissue neoplasm|malignant mediastinal mesenchymal tumor|mediastinal mesenchymal tumor, malignant|malignant soft tissue tumor of the mediastinum|malignant soft tissue tumor of mediastinum|malignant soft tissue neoplasm of the mediastinum UMLS:C1334599|NCIT:C6642 owl:Class HGNC:23791 biolink:NamedThing INF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0097722 biolink:NamedThing sperm motility Any process involved in the controlled movement of a sperm cell. tmpaxzxjjyw_mondo_relaxed.owl sperm movement owl:Class MONDO:0004007 biolink:NamedThing breast intraductal proliferative lesion A group of non-invasive epithelial proliferations that occur in the ductal system of the breast. The vast majority of cases arise in the terminal ductal lobular units. This category includes atypical ductal hyperplasia, usual ductal hyperplasia, flat epithelial atypia, and ductal carcinoma in situ. There is an increased risk for subsequent development of invasive breast carcinoma. tmpaxzxjjyw_mondo_relaxed.owl DIN|ductal intraepithelial neoplasia|intraductal proliferative lesion|mammary intraepithelial neoplasia, ductal type|intraductal proliferative lesion of the breast NCIT:C27942|UMLS:C1334631|DOID:6839 owl:Class UBERON:0003601 biolink:NamedThing neck cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032841 biolink:NamedThing Usher syndrome, type 1M tmpaxzxjjyw_mondo_relaxed.owl USH1M|USHER SYNDROME, TYPE 1M OMIM:618632 owl:Class MONDO:0017248 biolink:NamedThing congenital pulmonary airway malformation type 0 tmpaxzxjjyw_mondo_relaxed.owl CPAM type 0|congenital cystic adenomatous malformation of the lung type 0|congenital cystic adenomatoid malformation of the lung type 0 ICD10:Q33.0|Orphanet:280827 owl:Class UBERON:0002337 biolink:NamedThing endometrial stroma tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030869 biolink:NamedThing spermatogenic failures 50 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failures 50|SPGF50 OMIM:619145 owl:Class MONDO:0007243 biolink:NamedThing Burkitt lymphoma Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma. tmpaxzxjjyw_mondo_relaxed.owl Burkitt's lymphoma|malignant lymphoma, Burkitt's type|small non-cleaved cell lymphoma, Burkitt's type|Burkitt lymphoma/leukaemia|BL|Burkitt's tumor or lymphoma|small non-cleaved cell lymphoma|Burkitt's tumor|Burkitt lymphoma MESH:D008228|ONCOTREE:BL|MedDRA:10067184|NCIT:C2912|ICD10:C83.7|Orphanet:543|EFO:0000309|MedDRA:10006595|GARD:0005973|DOID:8584|MedDRA:10053518|ICD9:200.2|ICDO:9687/3|SCTID:118617000|ICD10:C83.70|OMIM:113970|MESH:D002051|UMLS:C0006413 owl:Class MONDO:0012043 biolink:NamedThing Reis-Bucklers corneal dystrophy Reis-Bücklers corneal dystrophy (RBCD), also known as granular corneal dystrophy type III, is a rare form of superficial corneal dystrophy characterized by bilateral symmetrical reticular opacities in the superficial central cornea, with progressive visual impairment. tmpaxzxjjyw_mondo_relaxed.owl CDB1|Reis Bucklers dystrophy|corneal dystrophy, geographic|anterior limiting membrane dystrophy type I|corneal dystrophy of Bowman Layer, type 1|geographic corneal dystrophy|RBCD|corneal dystrophy of Bowman layer type 1|corneal dystrophy geographic|corneal dystrophy of Bowman layer type I|Reis-Bücklers corneal dystrophy|corneal dystrophy Reis Bucklers type|granular corneal dystrophy type 3|Reis-Bucklers corneal dystrophy|Reis Bucklers corneal dystrophy|atypical granular corneal dystrophy|corneal dystrophy, REIS-Bucklers type|CDRB|granular corneal dystrophy, type 3|anterior limiting membrane dystrophy type 1|superficial granular corneal dystrophy|granular corneal dystrophy type III GARD:0009276|MESH:C535476|Orphanet:98961|ICD10:H18.5|SCTID:231930000|OMIM:608470|UMLS:C0339278|DOID:0060453|ICD9:371.52 owl:Class UBERON:0004989 biolink:NamedThing mucosa of appendix tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004402 biolink:NamedThing testicular yolk sac tumor, glandular-alveolar pattern A yolk sac tumor that arises from the testis and is characterized by the presence of gland-like spaces, irregular alveoli, and tubular structures. tmpaxzxjjyw_mondo_relaxed.owl testicular yolk sac tumor, glandular-alveolar pattern|glandular-alveolar pattern testicular yolk sac tumor DOID:7930|UMLS:C1515305|NCIT:C39926 owl:Class MONDO:0009474 biolink:NamedThing isovaleric acid, inability to smell tmpaxzxjjyw_mondo_relaxed.owl isovaleric acid, inability to smell OMIM:243450 owl:Class IAO:8000007 biolink:NamedThing curation subset ontology module A subset ontology that is intended as a whitelist for curators using the ontology. Such a subset will exclude classes that curators should not use for curation. tmpaxzxjjyw_mondo_relaxed.owl curation subset ontology module owl:Class HGNC:30650 biolink:NamedThing STRA6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003809 biolink:NamedThing malignant mediastinum hemangiopericytoma A malignant hemangiopericytoma arising in the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl malignant mediastinal hemangiopericytoma|mediastinum spindle cell tumor|malignant hemangiopericytoma of mediastinum|malignant hemangiopericytoma of the mediastinum|mediastinum hemangiopericytoma DOID:6209|UMLS:C1334598|NCIT:C6608 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class GO:0003104 biolink:NamedThing positive regulation of glomerular filtration Any process that activates or increases the frequency, rate or extent of glomerular filtration. Glomerular filtration is the processs whereby blood is filtered by the glomerulus into the renal tubule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0012447 biolink:NamedThing Abnormal myelination Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857704 peter 2013-11-23T03:45:58Z human_phenotype owl:Class GO:0034404 biolink:NamedThing nucleobase-containing small molecule biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. tmpaxzxjjyw_mondo_relaxed.owl nucleobase, nucleoside and nucleotide synthesis|nucleobase, nucleoside and nucleotide anabolism|nucleobase, nucleoside and nucleotide formation|nucleobase, nucleoside and nucleotide biosynthesis owl:Class ENVO:01001012 biolink:NamedThing lithometeor A meteor which is primarily composed of rock. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00000339 biolink:NamedThing piece of rock An abiotic mesoscopic feature made of the mineral material of the crust of the Earth. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011122 biolink:NamedThing Abnormality of skin physiology Any abnormality of the physiological function of the skin. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of skin physiology UMLS:C4023527 peter 2011-06-12T10:05:14Z human_phenotype owl:Class MONDO:0011608 biolink:NamedThing atopic dermatitis 5 An atopic dermatitis associated with variation in the region 13q12-q14. tmpaxzxjjyw_mondo_relaxed.owl ATOD5|atopic dermatitis type 5|dermatitis, ATOPIC, 5 MESH:C565280|OMIM:605844|UMLS:C1853900|DOID:0110101 owl:Class MONDO:0024664 biolink:NamedThing hypertension, pregnancy-induced A hypertensive disorder that develops during pregnancy. tmpaxzxjjyw_mondo_relaxed.owl hypertension, gestational|hypertension, pregnancy transient|hypertensions, pregnancy induced|hypertension-associated pregnancy disorder|induced hypertension, pregnancy|hypertension induced by pregnancy|hypertension, pregnancy induced|induced Hypertensions, pregnancy|pregnancy induced hypertension|pregnancy transient hypertension|hypertension associated disorders of pregnancy|transient hypertension, pregnancy|pregnancy-induced hypertension|gestational hypertension|hypertension complicating pregnancy MESH:D046110|NCIT:C9243|SCTID:48194001 MONDO:0024581 owl:Class HGNC:5218 biolink:NamedThing HSD3B2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6631 biolink:NamedThing LMAN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001611 biolink:NamedThing phlegmonous dacryocystitis tmpaxzxjjyw_mondo_relaxed.owl SCTID:64324003|DOID:12997|UMLS:C0155238|ICD10:H04.31|ICD9:375.33 owl:Class MONDO:0011425 biolink:NamedThing dilated cardiomyopathy 1H A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22. tmpaxzxjjyw_mondo_relaxed.owl dilated cardiomyopathy type 1H|CMD1H|dilated cardiomyopathy with conduction defect|cardiomyopathy, dilated, 1H|cardiomyopathy, dilated, with conduction defect DOID:0110429|MESH:C536277|OMIM:604288|ICD10:I42.0|UMLS:C1858591 owl:Class MONDO:0018062 biolink:NamedThing autosomal dominant trichoodontoonychodysplasia-syndactyly tmpaxzxjjyw_mondo_relaxed.owl Trueb Burg Bottani syndrome|Trueb-Burg-Bottani syndrome|Tricho-odonto-onychodysplasia with syndactyly|ectodermal dysplasia with corkscrew hairs MESH:C536565|Orphanet:3357|GARD:0005376|UMLS:C2931239 https://rarediseases.info.nih.gov/diseases/5376/trueb-burg-bottani-syndrome owl:Class MONDO:0044873 biolink:NamedThing childhood myelodysplastic syndrome An uncommon hematologic malignancy occurring during childhood. Many of the morphologic, immunophenotypic, and genetic changes seen in adult myelodysplastic syndromes are also observed in the childhood variants of the disease. Children present with neutropenia and thrombocytopenia more often than adults, and bone marrow hypocellularity is more often seen in children than adults. tmpaxzxjjyw_mondo_relaxed.owl myelodysplastic syndrome|childhood myelodysplastic syndrome|childhood MDS NCIT:C68744 owl:Class MONDO:0004922 biolink:NamedThing developmental coordination disorder A disorder characterized by an impairment in the development of an individual's motor coordination skills; this impairment in motor development is not due to a medical condition. tmpaxzxjjyw_mondo_relaxed.owl development coordination disorder|developmental dyspraxia|clumsy child syndrome MESH:D019957|DOID:9923|SCTID:27544004|ICD9:315.4|UMLS:C0520947|ICD10:F82|NCIT:C92561 owl:Class HGNC:195 biolink:NamedThing ADAM17 tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03411374 biolink:NamedThing crustacean Crustaceans form a large, diverse arthropod taxon which includes such familiar animals as crabs, lobsters, crayfish, shrimp, krill, woodlice, and barnacles. [https://en.wikipedia.org/wiki/Crustacean] tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011759 biolink:NamedThing Hurler-Scheie syndrome Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development. tmpaxzxjjyw_mondo_relaxed.owl mucopolysaccharidosis type I-S|MPS1-HS|mucopolysaccharidosis type Ih/S|l-iduronidase deficiency, Scheie type|Hurler-Scheie syndrome|MPSIH/S|Hurler–Scheie syndrome|mucopolysaccharidosis type 1H/S|mucopolysaccharidosis IH/S|mucopolysaccharidosis type IH/S|mucopolysaccharidosis, mps-I-s|MPS1H/S|Scheie disease mps type 1s|MPS I H-S|mucopolysaccharidosis type I mild form|Scheie's syndrome ICD10:E76.0|OMIM:607015|UMLS:C0086431|SCTID:73123008|DOID:0111389|GARD:0012560|Orphanet:93476|MedDRA:10056916|Orphanet:579|NCIT:C122782 owl:Class MONDO:0010667 biolink:NamedThing Prieto syndrome This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, syndromic 2|MRXS2|intellectual disability, X-linked, syndromic 2|Prieto X-linked intellectual disability syndrome|intellectual disability, X-linked, with Dysmorphism and cerebral atrophy|PRS|X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome|Prieto X-linked mental retardation syndrome|mental retardation, X-linked, with Dysmorphism and cerebral atrophy|Prieto-Badia-Mulas syndrome Orphanet:2958|GARD:0004482|DOID:0060805|MESH:C535274|NCIT:C18058|OMIM:309610|SCTID:719140001 owl:Class HGNC:12565 biolink:NamedThing UNC119 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0700031 biolink:NamedThing mosaic trisomy 18 Trisomy 18 in which the presence of an extra copy of chromosome 18 is present only in some of the cells of the organism. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class CL:0000822 biolink:NamedThing B-2 B cell A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative. tmpaxzxjjyw_mondo_relaxed.owl B2 cell|B-2 B lymphocyte|B-2 B-cell|B2 B lymphocyte|B2 B-lymphocyte|B2 B-cell|B2 B cell|B-0 B cell|B-2 B-lymphocyte B-2 B cells are reportedly CD48-positive, CD244-negative, and CD352-positive. cell owl:Class GO:0002658 biolink:NamedThing regulation of peripheral tolerance induction Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017585 biolink:NamedThing painful orbital and systemic neurofibromas-marfanoid habitus syndrome tmpaxzxjjyw_mondo_relaxed.owl multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus Orphanet:300501|GARD:0011006|UMLS:CN203391 https://rarediseases.info.nih.gov/diseases/11006/painful-orbital-and-systemic-neurofibromas-marfanoid-habitus-syndrome owl:Class MONDO:0016752 biolink:NamedThing benign peripheral nerve sheath tumor tmpaxzxjjyw_mondo_relaxed.owl BPNST UMLS:CN202000|Orphanet:252131 Editor note: consider relationship to granular cell tumor owl:Class MONDO:0700071 biolink:NamedThing myopathy caused by variation in POMT2 Any myopathy in which the cause of the disease is a variation in the POMT2 gene. tmpaxzxjjyw_mondo_relaxed.owl POMT2 myopathy|myopathy caused by mutation in POMT2|POMT2-related myopathy http://orcid.org/0000-0002-4142-7153 owl:Class ENVO:01001510 biolink:NamedThing material congelation process A material transformation process during which a material's viscosity increase either through a reduction in temperature, through chemical reactions, or other physical effects. tmpaxzxjjyw_mondo_relaxed.owl congelation process|congelation owl:Class HP:0002463 biolink:NamedThing Language impairment Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. tmpaxzxjjyw_mondo_relaxed.owl Language impairment|Language disorder SNOMEDCT_US:62305002|UMLS:C0023015|MSH:D007806 human_phenotype owl:Class GO:0045995 biolink:NamedThing regulation of embryonic development Any process that modulates the frequency, rate or extent of embryonic development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044336 biolink:NamedThing colorectal signet ring cell carcinoma An invasive colorectal adenocarcinoma characterized by the presence of malignant glandular epithelial cells with prominent intracytoplasmic mucin resulting in the displacement of the nuclei. The malignant glandular cells with intracytoplasmic mucin constitute more than 50% of the malignant cellular infiltrate. tmpaxzxjjyw_mondo_relaxed.owl colorectal signet Ring cell carcinoma NCIT:C43586|UMLS:C1707440 owl:Class MONDO:0005567 biolink:NamedThing substance withdrawal syndrome A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions. tmpaxzxjjyw_mondo_relaxed.owl substance withdrawal syndrome|drug withdrawal syndrome|drug withdrawal|withdrawal disorder|substance withdrawal|withdrawal syndrome|substance withdrawal disorder EFO:0005800|DOID:0060001|ICD9:292.0|UMLS:C0152128|MESH:D013375|SCTID:363101005|NCIT:C35046 owl:Class HGNC:7104 biolink:NamedThing MIPEP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021039 biolink:NamedThing extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor A spectrum of malignant tumors arising from the soft tissues, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms. tmpaxzxjjyw_mondo_relaxed.owl extraosseous Ewings sarcoma-primitive neuroepithelial tumor|extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor|extraosseous Ewing's tumor|extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor|extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor UMLS:C0279980|NCIT:C7135|NCIT:C27293|DOID:4985|UMLS:C1333514|EFO:1000250 owl:Class MONDO:0002517 biolink:NamedThing tenosynovitis of foot and ankle tmpaxzxjjyw_mondo_relaxed.owl ICD9:727.06|DOID:312 owl:Class MONDO:0007549 biolink:NamedThing generalized dominant dystrophic epidermolysis bullosa Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa dystrophica, Pasini type (formerly)|DDEB, generalized|dystrophic epidermolysis bullosa, autosomal dominant|autosomal dominant dystrophic epidermolysis bullosa|Albopapuloid dominant dystrophic epidermolysis bullosa|dominant dystrophic epidermolysis bullosa|DDEB-gen|DDEB|epidermolysis bullosa dystrophica with subcorneal Cleavage|DDEB, Pasini and Cockayne-Touraine types|epidermolysis bullosa dystrophica, autosomal dominant|dominant dystrophic epidermolysis bullosa, generalized|epidermolysis bullosa dystrophica, Pasini type|autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types|epidermolysis bullosa dystrophica, Cockayne-Touraine type|epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly) ICD9:757.39|ICD10:Q81.2|OMIM:131750|GARD:0002139|Orphanet:231568|DOID:0080224|SCTID:75875004 owl:Class HGNC:24475 biolink:NamedThing DMGDH tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001883 biolink:NamedThing Talipes A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. tmpaxzxjjyw_mondo_relaxed.owl Talipes foot deformities UMLS:C1301937|SNOMEDCT_US:398309008|UMLS:C3552713|MSH:D000070558 Talipes means (a deformity of) foot and ankle. There are four types of talipes. 1) Talipes equinovarus - the foot is pointing inwards and down (the most common form) 2) Talipes equinovalgus - where the foot points outwards and down 3) Talipes calcaneovarus - where the foot points inwards and up 4) Talipes calcaneovalgus - where the foot points inwards and down. human_phenotype owl:Class MONDO:0013128 biolink:NamedThing familial juvenile hyperuricemic nephropathy type 2 Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dominantly inherited disease of childhood characterized by hypoproliferative anemia, hyperuricemia and slowly progressing kidney failure due to dysregulation of the renin-angiotensin system (RAS). tmpaxzxjjyw_mondo_relaxed.owl early-onset hyperuricemia, Anemia, and progressive kidney failure|hyperuricemic nephropathy, familial juvenile, 2|familial juvenile hyperuricemic nephropathy type 2|ADTKD-REN|REN-related autosomal dominant tubulointerstitial kidney disease|HNFJ2|hyperuricemic nephropathy, familial juvenile, type 2|FJHN type 2|REN familial juvenile hyperuricemic nephropathy|familial juvenile hyperuricemic nephropathy caused by mutation in REN|REN-associated familial juvenile hyperuricemic nephropathy|autosomal dominant tubulointerstitial kidney disease due to mutations in REN|REN-associated kidney disease|REN-associated FJHN Orphanet:217330|SCTID:721840000|MESH:C567760|OMIM:613092|GARD:0013461 owl:Class HGNC:1673 biolink:NamedThing CD3D tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010972 biolink:NamedThing hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present. tmpaxzxjjyw_mondo_relaxed.owl Ferlini-Ragno-Calzolari syndrome|hydrocephalus, Sprengel anomaly, and costovertebral dysplasia|Waaler-Aarskog syndrome|hydrocephalus, skeletal anomalies, and mental disturbance|hydrocephalus, costovertebral dysplasia, and Sprengel anomaly MESH:C536461|OMIM:600991|ICD10:Q87.8|SCTID:721229003|Orphanet:2180|GARD:0005518 owl:Class MONDO:0005614 biolink:NamedThing pancreatic adenosquamous carcinoma A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl pancreatic adenoacanthoma|adenosquamous carcinoma of the pancreas|adenosquamous pancreas carcinoma|pancreas adenosquamous carcinoma|pancreatic mucoepidermoid carcinoma|adenosquamous carcinoma of pancreas|pancreatic mixed squamous and adenocarcinoma|pancreatic adenosquamous cancer|PAASC|pancreatic adenosquamous carcinoma NCIT:C5721|EFO:0006732|UMLS:C1335299|DOID:5637|ONCOTREE:PAASC owl:Class MONDO:0018670 biolink:NamedThing symptomatic form of fragile X syndrome in female carrier tmpaxzxjjyw_mondo_relaxed.owl Orphanet:449291|OMIM:300624|ICD10:Q99.2|UMLS:CN237736 owl:Class MONDO:0019779 biolink:NamedThing Renier-Gabreels-Jasper syndrome Renier-Gabreels-Jasper syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpaxzxjjyw_mondo_relaxed.owl Renier Gabreels Jasper syndrome Orphanet:93975|SCTID:723501008|OMIM:309580|GARD:0004672|UMLS:CN206720 https://rarediseases.info.nih.gov/diseases/4672/renier-gabreels-jasper-syndrome owl:Class MONDO:0002680 biolink:NamedThing chronic wasting disease A transmissible spongiform encephalopathy (prion disease) of deer and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (prions). tmpaxzxjjyw_mondo_relaxed.owl DOID:3530|UMLS:C1135993|MESH:D034081 owl:Class MONDO:0100306 biolink:NamedThing disorder of defective peroxisome oxidative status Any peroxisomal single enzyme/protein defect that has its basis in the disruption of peroxisome oxidation. tmpaxzxjjyw_mondo_relaxed.owl disorder of defective peroxisome oxidative status http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0003297 biolink:NamedThing gland of integumental system tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015002 biolink:NamedThing radius-ulna endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017453 biolink:NamedThing fetal parvovirus syndrome Foetal parvovirus syndrome is a foetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; 'slapped cheek disease') and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis. tmpaxzxjjyw_mondo_relaxed.owl Human parvovirus B19 caused infectious embryofetopathy|Maternofetal infection by parvovirus|mother-to-child transmission of parvovirus syndrome|Parvovirus antenatal infection|fifth disease|Parvovirus B19 antenatal infection|Human parvovirus B19 infectious embryofetopathy ICD10:P35.8|GARD:0004236|Orphanet:295|MESH:C536301|GARD:0002310|SCTID:715197005 owl:Class MONDO:0040922 biolink:NamedThing latent early syphilis tmpaxzxjjyw_mondo_relaxed.owl latent early syphilis UMLS:C0275842|SCTID:186867005 owl:Class MONDO:0044141 biolink:NamedThing panic disorder without agoraphobia A disorder in which an individual experiences recurrent, unexpected panic attacks and persistent concern about having additional panic attacks. Agoraphobia is not a component of this disorder. tmpaxzxjjyw_mondo_relaxed.owl panic disorder without agoraphobia EFO:1001906|NCIT:C97193|SCTID:56576003 owl:Class MONDO:0022471 biolink:NamedThing childhood aortic valve stenosis tmpaxzxjjyw_mondo_relaxed.owl aortic valves stenosis of the child GARD:0000744 https://rarediseases.info.nih.gov/diseases/744/aortic-valves-stenosis-of-the-child owl:Class MONDO:0032675 biolink:NamedThing myasthenic syndrome, congenital, 25, presynaptic tmpaxzxjjyw_mondo_relaxed.owl CMS25|MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC OMIM:618323 owl:Class MONDO:0011636 biolink:NamedThing Diamond-Blackfan anemia 2 tmpaxzxjjyw_mondo_relaxed.owl Diamond-Blackfan anemia 2|anemia Diamond-Blackfan 2|Diamond-Blackfan Anemia, 2|DBA2 OMIM:606129|MESH:C536130|UMLS:C1853666|GARD:0008283 https://rarediseases.info.nih.gov/diseases/8283/diamond-blackfan-anemia-2 owl:Class MONDO:0023149 biolink:NamedThing infection due to clostridium perfringens tmpaxzxjjyw_mondo_relaxed.owl Clostridium perfringens Infections|Clostridium perfringens infection|Clostridium perfringens Infection|Infections, Clostridium perfringens|Infection due to Clostridium perfringens|Infection, Clostridium perfringens|C. perfringens infection|Infection caused by Clostridium perfringens GARD:0011970|UMLS:C0275619|SCTID:65154009 owl:Class MONDO:0008743 biolink:NamedThing Stimmler syndrome Stimmler syndrome is characterised by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. tmpaxzxjjyw_mondo_relaxed.owl Stimmler syndrome|ALANINURIA with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus|Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus Orphanet:3199|MESH:C565968|OMIM:202900|UMLS:C1859965|GARD:0005026|SCTID:733072002 owl:Class MONDO:0002828 biolink:NamedThing Bartholin gland transitional cell carcinoma A rare carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant urothelial-type epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl Bartholin's gland transitional cell carcinoma|major vestibular gland transitional cell carcinoma|Bartholin gland transitional cell carcinoma UMLS:C1511053|NCIT:C40297|DOID:3998 owl:Class MONDO:0035349 biolink:NamedThing localized dystrophic epidermolysis bullosa A localized form of dystrophic epidermolysis bullosa characterized by blisters confined primarily to the hands and feet (acral form) or to the pretibial region (pretibial form). Nail dystrophy or loss is common and may be an isolated finding (nail only form). This disease can be inherited via autosomal dominant or autosomal recessive inheritance. tmpaxzxjjyw_mondo_relaxed.owl localized DEB Orphanet:595356 owl:Class MONDO:0060624 biolink:NamedThing neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter tmpaxzxjjyw_mondo_relaxed.owl NDAGSCW|neurodevelopmental disorder with ataxic GAIT, absent speech, and decreased cortical WHITE matter UMLS:C4540498|OMIM:617807 owl:Class GO:0022610 biolink:NamedThing biological adhesion The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007375 biolink:NamedThing roof of mouth tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018036 biolink:NamedThing immunodeficiency due to absence of thymus tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 ICD10:D81.4|Orphanet:331220 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary immunodeficiency disease' MONDO_0003778 owl:Class GO:0003332 biolink:NamedThing negative regulation of extracellular matrix constituent secretion Any process that decreases the rate, frequency, or extent the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7808 biolink:NamedThing NGF tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001618 biolink:NamedThing Dysphonia An impairment in the ability to produce voice sounds. tmpaxzxjjyw_mondo_relaxed.owl Inability to produce voice sounds|Voice change UMLS:C1527344|SNOMEDCT_US:47004009|MSH:D055154 human_phenotype owl:Class HP:0001608 biolink:NamedThing Abnormality of the voice tmpaxzxjjyw_mondo_relaxed.owl Voice abnormality|Abnormality of the voice UMLS:C4021776 This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth. human_phenotype owl:Class FOODON:03430131 biolink:NamedThing whole Refers to natural or formed shape as appropriate, regardless of size, which may vary from very large (e.g., beef carcass) to very small (e.g., poppy seed, yeast cell). tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03430113 biolink:NamedThing food physical quality The physical state of the food product (liquid, semiliquid, semisolid, or solid). Solid food products are further subdivided by shape or form. Terms are provided for products that have both liquid and solid components or that incorporate air or other gases. [FDA CFSAN 1995] tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0010000 biolink:NamedThing exposure to environmental quality A exposure event involving the interaction of an exposure receptor to quality. tmpaxzxjjyw_mondo_relaxed.owl quality exposure owl:Class MONDO:0000674 biolink:NamedThing mirror agnosia An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060144 owl:Class UBERON:8300001 biolink:NamedThing right forelimb tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010837 biolink:NamedThing primary hyperparathyroidism Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones. tmpaxzxjjyw_mondo_relaxed.owl primary hyperparathyroidism|primary hyperparathyroidism (disease) primary hyperparathyroidism (disease) DOID:11202|MESH:D049950|ICD9:252.01|GARD:0008612|NCIT:C48280|HP:0008200|ICD10:E21.0|Orphanet:99878|SCTID:36348003|EFO:0008519 Editor note: check relationship to parent and familiar form owl:Class MONDO:0011479 biolink:NamedThing postural orthostatic tachycardia syndrome A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart. tmpaxzxjjyw_mondo_relaxed.owl postural tachycardia syndrome due to NET deficiency|Soldiers heart|irritable heart|orhtostatic intolerance|orthostatic intolerance|soldiers heart|orthostatic intolerance due to NET deficiency|neurocirculatory asthenia|familial orthostatic tachycardia due to norepinephrine transporter deficiency Orphanet:443236|SCTID:8074002|EFO:1000645|OMIM:604715|DOID:0111154|ICD10:I95.1 owl:Class MONDO:0011152 biolink:NamedThing PHGDH deficiency 3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form tmpaxzxjjyw_mondo_relaxed.owl PHOSPHOGLYCERATE dehydrogenase deficiency|PHGDHD|3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form|PHGDH deficiency Orphanet:79351|UMLS:C0580190|UMLS:C1866174|ICD10:E72.8|DOID:0050722|MESH:C566618|OMIM:601815 owl:Class MONDO:0011946 biolink:NamedThing diaphanospondylodysostosis Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate. tmpaxzxjjyw_mondo_relaxed.owl diaphanospondylodysostosis|vertebral ossification, defect in, with nephrogenic rests MESH:C564305|SCTID:721094006|OMIM:608022|UMLS:C1842691|Orphanet:66637|ICD10:Q78.8 owl:Class HGNC:7495 biolink:NamedThing MT-TQ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016848 biolink:NamedThing juvenile temporal arteritis Juvenile temporal arteritis is a rare form of vasculitis, a group of conditions that cause inflammation of the blood vessels. Unlike the classic form of temporal arteritis, this condition is generally diagnosed in late childhood or early adulthood and only affects the temporal arteries (located at the lower sides of the skull, directly underneath the temple). Affected people often have no signs or symptoms aside from a painless nodule or lump in the temporal region. The exact underlying cause of the condition is unknown. It generally occurs sporadically in people with no family history of the condition. Juvenile temporal arteritis is often treated with surgical excision and rarely recurs. tmpaxzxjjyw_mondo_relaxed.owl JGCA|juvenile polymyalgia rheumatica|juvenile giant cell arteritis|non-giant cell granulomatous temporal arteritis with eosinophilia|JPMR|juvenile cranial arteritis|JTA GARD:0003068|ICD10:L95.8|SCTID:722020006|UMLS:C0751547|Orphanet:26137 https://rarediseases.info.nih.gov/diseases/3068/juvenile-temporal-arteritis owl:Class CHEBI:50634 biolink:NamedThing acetazolamide(1-) tmpaxzxjjyw_mondo_relaxed.owl [(5-acetamido-1,3,4-thiadiazol-2-yl)sulfonyl]azanide|acetazolamide owl:Class GO:1903553 biolink:NamedThing positive regulation of extracellular exosome assembly Any process that activates or increases the frequency, rate or extent of extracellular vesicular exosome assembly. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of extracellular vesicular exosome assembly|up-regulation of extracellular vesicular exosome assembly|activation of extracellular vesicular exosome assembly|upregulation of extracellular vesicular exosome assembly|up regulation of extracellular vesicular exosome assembly owl:Class MONDO:0018052 biolink:NamedThing hypoplastic tibiae-postaxial polydactyly syndrome Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands. tmpaxzxjjyw_mondo_relaxed.owl Werner mesomelic syndrome OMIM:188740|ICD10:Q74.8|SCTID:716741008|UMLS:CN204341|DOID:0111564|Orphanet:3332 owl:Class UBERON:0004732 biolink:NamedThing segmental subdivision of nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014299 biolink:NamedThing schwannomatosis 2 tmpaxzxjjyw_mondo_relaxed.owl Schwannomatosis type 2|schwannomatosis 2|SWNTS2|SCHWANNOMATOSIS 2 OMIM:615670|UMLS:C3810283|Orphanet:93921 owl:Class MONDO:0032664 biolink:NamedThing ciliary dyskinesia, primary, 40 tmpaxzxjjyw_mondo_relaxed.owl CILD40|Ciliary Dyskinesia, Primary, 40, With or Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 40 OMIM:618300 owl:Class MONDO:0008066 biolink:NamedThing nasal hyperpigmentation, familial transverse tmpaxzxjjyw_mondo_relaxed.owl nasal hyperpigmentation, familial transverse UMLS:C1834369|OMIM:161530 owl:Class NCBITaxon:6246 biolink:NamedThing Strongyloididae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003739 biolink:NamedThing selective immunoglobulin deficiency disease A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the five immunoglobulin classes. Deficiencies of immunoglobulins present variably according to isotype. Selective deficiencies may be caused by decreased or inefficient production from progenitor B cells without any corresponding decreases in the other isotypes. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. tmpaxzxjjyw_mondo_relaxed.owl selective Immunoglobulin isotype deficiency DOID:6025|NCIT:C27870|UMLS:C1335942 owl:Class CL:0002012 biolink:NamedThing Kit-low proerythroblast A proerythoblast that is Kit-low, Lyg76-positive, and CD71-positive. tmpaxzxjjyw_mondo_relaxed.owl Markers are associated with mouse cells. tmeehan 2010-04-26T10:31:56Z cell owl:Class GO:1904315 biolink:NamedThing transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Any transmitter-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. tmpaxzxjjyw_mondo_relaxed.owl ionotropic neurotransmitter receptor activity involved in regulation of post-synaptic membrane potential|ionotropic neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential owl:Class UBERON:0035177 biolink:NamedThing abdominal part of esophagus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004404 biolink:NamedThing refractory precursor T-lymphoblastic lymphoma/leukemia T-lymphoblastic leukemia/lymphoma resistant to treatment tmpaxzxjjyw_mondo_relaxed.owl refractory T lymphoblastic leukemia/lymphoma|precursor T lymphoblastic lymphoma/leukemia refractory|refractory precursor T-lymphoblastic lymphoma/leukemia NCIT:C8696|UMLS:C0854859|DOID:7936 owl:Class NCBITaxon:1338369 biolink:NamedThing Dipnotetrapodomorpha tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010851 biolink:NamedThing fibula cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019194 biolink:NamedThing localized lipodystrophy Localised lipodystrophies are characterised by loss of subcutaneous tissue from small regions of the body. tmpaxzxjjyw_mondo_relaxed.owl drug-induced localized lipodystrophy (subtype)|panniculitis and localized lipodystrophy (subtype)|idiopathic localized lipodystrophy (subtype)|centrifugal lipodystrophy (subtype)|focal lipodystrophy|pressure-induced localized lipoatrophy (subtype) UMLS:C4329999|UMLS:CN227583|ICD10:E88.1|Orphanet:79088|GARD:0005867|NCIT:C131814 https://rarediseases.info.nih.gov/diseases/5867/localized-lipodystrophy owl:Class GO:0036374 biolink:NamedThing glutathione hydrolase activity Catalysis of the reaction: glutathione + H2O = L-cysteinylglycine + L-glutamate. tmpaxzxjjyw_mondo_relaxed.owl gamma-glutamyltranspeptidase activity|glutathionase activity owl:Class MONDO:0001316 biolink:NamedThing streptococcal meningitis An infectious meningitis caused by infection with Streptococcus. tmpaxzxjjyw_mondo_relaxed.owl Streptococcus caused infectious meningitis|Streptococcus infectious meningitis SCTID:4510004|ICD10:G00.2|UMLS:C0154639|ICD9:320.2|DOID:11574 owl:Class UBERON:0003543 biolink:NamedThing left lung respiratory bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008879 biolink:NamedThing Bowen-Conradi syndrome Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet. tmpaxzxjjyw_mondo_relaxed.owl Bowen-Conradi Hutterite syndrome|BWCNS|Bowen syndrome, Hutterite type|Bowen Hutterite syndrome, formerly|Bowen Hutterite syndrome (formerly)|Bowen Hutterite syndrome|Bowen-Conradi syndrome ICD9:759.89|OMIM:211180|UMLS:C1859405|GARD:0005950|SCTID:711153001|MESH:C537081|ICD10:Q87.8|DOID:0050684|Orphanet:1270 https://rarediseases.info.nih.gov/diseases/5950/bowen-conradi-syndrome owl:Class MONDO:0003130 biolink:NamedThing mesoblastic nephroma A solid, unencapsulated tumor of the kidney composed of spindle mesenchymal cells that resemble fibroblasts or muscle cells. The homogeneous mass typically extends into the renal parenchyma and replaces most of the kidney. In most cases, mesoblastic nephroma is benign and occurs in the fetus or newborn, and rarely in the older child or the adult. tmpaxzxjjyw_mondo_relaxed.owl mesoblastic nephroma (morphologic abnormality)|mesoblastic nephroma ICD9:236.99|MESH:D018201|DOID:4772|SCTID:307604008|UMLS:C0206628 owl:Class MONDO:0008998 biolink:NamedThing Cockayne syndrome type 3 Cockayne syndrome type III, also known as the mild form of Cockayne syndrome, is a rare genetic disorder that causes early (premature) aging. Unlike the more severe forms of this condition, individuals with Cockayne syndrome type III can have normal growth and development. Symptoms may include sunlight sensitivity (photosensitivity), hearing loss, eye and bone abnormalities, and changes to the brain that can be seen on imaging (brain MRIs). In general, symptoms of Cockayne syndrome type III are usually not noticeable until later in childhood. tmpaxzxjjyw_mondo_relaxed.owl Cockayne syndrome type 3|Cockayne syndrome type III|Cockayne syndrome, type III|Cockayne syndrome type C OMIM:216411|ICD10:Q87.8|GARD:0001417|Orphanet:191|Orphanet:90324|OMIM:133540|OMIM:216400 Editor note: consider obsoletion. obsolete in OMIM. No info in GHR https://rarediseases.info.nih.gov/diseases/1417/cockayne-syndrome-type-iii owl:Class MONDO:0012203 biolink:NamedThing familial hyperthyroidism due to mutations in TSH receptor Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. tmpaxzxjjyw_mondo_relaxed.owl hyperthyroidism, NONAUTOIMMUNE|resistance to thyroid stimulating hormone|Nonautoimmune hyperthyroidism|hyperthyroidism, Nonautoimmune, autosomal dominant|hyperthyroidism, congenital Nonautoimmune|familial non-immune hyperthyroidism|toxic thyroid hyperplasia, autosomal dominant Orphanet:424|ICD10:E05.8|MESH:C563786|UMLS:C1836706|GARD:0002858|OMIM:609152 owl:Class MONDO:0019870 biolink:NamedThing distal trisomy 1p36 Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported. tmpaxzxjjyw_mondo_relaxed.owl telomeric duplication 1p36|distal duplication 1p36|trisomy 1pter|distal trisomy type 1p36 ICD10:Q92.3|SCTID:766053003|UMLS:CN244049|Orphanet:96069 owl:Class MONDO:0006216 biolink:NamedThing gallbladder adenoma A polypoid epithelial neoplasm that arises from the gallbladder. According to the neoplastic growth pattern, it is classified as tubular, tubulopapillary, or papillary. tmpaxzxjjyw_mondo_relaxed.owl gallbladder adenoma|adenoma of the gallbladder|gall bladder adenoma|adenoma of gallbladder NCIT:C7720|UMLS:C0238137|DOID:0050893|EFO:1000263 owl:Class CHEBI:50427 biolink:NamedThing platelet aggregation inhibitor A drug or agent which antagonizes or impairs any mechanism leading to blood platelet aggregation, whether during the phases of activation and shape change or following the dense-granule release reaction and stimulation of the prostaglandin-thromboxane system. tmpaxzxjjyw_mondo_relaxed.owl platelet aggregation inhibitors owl:Class HGNC:16266 biolink:NamedThing SLC19A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100322 biolink:NamedThing non-Zellweger spectrum disorder A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7. tmpaxzxjjyw_mondo_relaxed.owl non-Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class GO:0042030 biolink:NamedThing ATPase inhibitor activity Binds to and stops, prevents or reduces an ATP hydrolysis activity. tmpaxzxjjyw_mondo_relaxed.owl adenosinetriphosphatase inhibitor owl:Class MONDO:0003785 biolink:NamedThing leukopenia A laboratory test result indicating a decreased number of white blood cells in the peripheral blood. tmpaxzxjjyw_mondo_relaxed.owl White blood cell decreased|leucopenia|leukocytopenia DOID:615|UMLS:C0023530|SCTID:84828003|MESH:D007970|NCIT:C26816|EFO:0004233|ICD10:D72.819|ICD9:288.50 owl:Class UBERON:0004401 biolink:NamedThing bone tissue of distal epiphysis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004357 biolink:NamedThing carcinoma of supraglottis A carcinoma of the larynx that arises from the supraglottic area. tmpaxzxjjyw_mondo_relaxed.owl cancer of supraglottis|supraglottic cancer|supraglottic carcinoma|cancer of the supraglottis|supraglottis carcinoma|carcinoma of supraglottic part of larynx|carcinoma of the supraglottis|supraglottic part of larynx carcinoma|carcinoma of supraglottis|supraglottic throat cancer SCTID:372105009|DOID:7763|NCIT:C5973|UMLS:C1299240 owl:Class MONDO:0032869 biolink:NamedThing mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 tmpaxzxjjyw_mondo_relaxed.owl MC5DN6|MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6 DOID:0111749|OMIM:618683 owl:Class MONDO:0012654 biolink:NamedThing atrial septal defect 4 Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene. tmpaxzxjjyw_mondo_relaxed.owl atrial heart septal defect type 4|atrial heart septal defect caused by mutation in TBX20|atrial septal defect 4|atrial septal defect type 4|ASD4|TBX20 atrial heart septal defect DOID:0110109|MESH:C566963|ICD10:Q21.1|UMLS:C1969657|OMIM:611363|Orphanet:1478 owl:Class GO:0045642 biolink:NamedThing positive regulation of basophil differentiation Any process that activates or increases the frequency, rate or extent of basophil differentiation. tmpaxzxjjyw_mondo_relaxed.owl stimulation of basophil differentiation|upregulation of basophil differentiation|up-regulation of basophil differentiation|activation of basophil differentiation|up regulation of basophil differentiation owl:Class NCBITaxon:28221 biolink:NamedThing Deltaproteobacteria tmpaxzxjjyw_mondo_relaxed.owl delta subdivision|Purple bacteria, delta subdivision|delta proteobacteria|Deltabacteria Cavalier-Smith 2002|Myxococcia|d-proteobacteria|delta subgroup|"Deltabacteria" Cavalier-Smith 1992|Proteobacteria delta subdivision PMID:11837318|PMID:16403855|PMID:27453056|PMID:28771119|PMID:33151140|GC_ID:11 NCBITaxon:32015 ncbi_taxonomy owl:Class NCBITaxon:68525 biolink:NamedThing delta/epsilon subdivisions tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:11837318 ncbi_taxonomy owl:Class FOODON:00002501 biolink:NamedThing multi-component food product A food product consisting of food material derived from ingredients sourced from multiple organisms. tmpaxzxjjyw_mondo_relaxed.owl 2019-01-23 22:40:32+00:00 The definition of this is being discussed in issue: https://github.com/FoodOntology/foodon/issues/57 Namely, how to characterize the threshold of ingredients that make for multi-component classification? Salt, pepper, spices wouldn't normally make a food multi-component? multi-ingredient Damion Dooley owl:Class HP:0000811 biolink:NamedThing Abnormal external genitalia tmpaxzxjjyw_mondo_relaxed.owl Abnormal external genitalia UMLS:C4025825 human_phenotype owl:Class MONDO:0020708 biolink:NamedThing brachial amyotrophic diplegia A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction. tmpaxzxjjyw_mondo_relaxed.owl flail arm syndrome|brachial amyotrophic diplegia|man-in-barrel syndrome|BAD|FAS NCIT:C133085 owl:Class MONDO:0013053 biolink:NamedThing microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Hadziselimovic syndrome|microcephaly-faciocardioskeletal syndrome ICD10:Q87.8|SCTID:719395001|Orphanet:217026|UMLS:C2751878|MESH:C567850|OMIM:612946 owl:Class MONDO:0020519 biolink:NamedThing hand-Schuller-Christian disease A multifocal, unisystem form of Langerhans-cell histiocytosis. There is involvement of multiple sites in one organ system, most frequently the bone. Patients are usually young children presenting with multiple destructive bone lesions. tmpaxzxjjyw_mondo_relaxed.owl multifocal eosinophilic granuloma|hand-SChüller-Christian disease|multifocal Unisystem Langerhans cell histiocytosis|chronic multifocal Langerhans cell histiocytosis|classic multifocal Langerhans cell histiocytosis|hand-Schuller-Christian disease ICD9:277.89|Orphanet:99873|NCIT:C6920|ICDO:9753/1|UMLS:CN207416|SCTID:39795003|ICD10:C96.5 owl:Class MONDO:0018760 biolink:NamedThing WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIM:616708|Orphanet:466943|UMLS:CN242159 owl:Class MONDO:0009954 biolink:NamedThing Ramon syndrome tmpaxzxjjyw_mondo_relaxed.owl gingival fibromatosis combined with cherubism|cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted Growth|cherubism-gingival fibromatosis-intellectual disability syndrome|Ramon syndrome GARD:0007523|ICD10:Q87.8|UMLS:C0796133|Orphanet:3019|OMIM:266270|MESH:C535285 https://rarediseases.info.nih.gov/diseases/7523/ramon-syndrome owl:Class CHEBI:36961 biolink:NamedThing chalcocarbonic acid tmpaxzxjjyw_mondo_relaxed.owl chalcocarbonic acids|chalcocarbonic acid owl:Class MONDO:0005998 biolink:NamedThing trombiculiasis Infestation with mites of the genus Trombiculidae, whose larvae carry the rickettsial agent of scrub typhus. tmpaxzxjjyw_mondo_relaxed.owl Trombiculidae disease or disorder|Trombiculidae infectious disease|Trombiculidae caused disease or disorder DOID:8399|UMLS:C0041170|MESH:D014323|EFO:0007526 owl:Class GO:0051674 biolink:NamedThing localization of cell Any process in which a cell is transported to, and/or maintained in, a specific location. tmpaxzxjjyw_mondo_relaxed.owl cell localization|establishment and maintenance of cell localization|localisation of cell|establishment and maintenance of localization of cell owl:Class MONDO:0019868 biolink:NamedThing mosaic trisomy 10 Mosaic trisomy 10 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by growth delay, craniofacial dysmorphism (incl. prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) and cardiac, renal and skeletal (e.g. radial ray defects, scoliosis) malformations, with death usually ocurring neonatally or in early infancy. Other reported features include central nervous system and ear anomalies, as well as facial clefts and anal atresia. tmpaxzxjjyw_mondo_relaxed.owl uniparental disomy of 10|chromosome 10, uniparental disomy|Mosaic trisomy type 10|trisomy 10 mosaicism|mosaic trisomy 10|Mosaic trisomy chromosome 10 GARD:0005406|ICD10:Q92.1|SCTID:764461004|UMLS:CN035866|Orphanet:96063|MESH:C538292 owl:Class MONDO:0009001 biolink:NamedThing macular coloboma-cleft palate-hallux valgus syndrome Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl coloboma of macula and skeletal anomalies MESH:C565686|OMIM:216800|Orphanet:91494|ICD10:Q87.8|UMLS:C1857619|SCTID:722463001 owl:Class MONDO:0012376 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 55 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.2. tmpaxzxjjyw_mondo_relaxed.owl DFNB55|deafness, autosomal recessive 55|autosomal recessive nonsyndromic deafness type 55|autosomal recessive nonsyndromic deafness 55|autosomal recessive deafness 55 GARD:0009919|OMIM:609952|ICD10:H90.3|MESH:C538203|DOID:0110510 owl:Class GO:0010155 biolink:NamedThing regulation of proton transport Any process that modulates the frequency, rate or extent of proton transport into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012686 biolink:NamedThing major affective disorder 6 tmpaxzxjjyw_mondo_relaxed.owl major affective disorder 6|MAJOR affective disorder 6|bipolar affective disorder|MAFD6 OMIM:611536|MESH:C567075 owl:Class UBERON:0009712 biolink:NamedThing endocardium of right ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:24265 biolink:NamedThing PTRH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007023 biolink:NamedThing Yersinia infectious disease Infections with bacteria of the genus yersinia. tmpaxzxjjyw_mondo_relaxed.owl infection, Yersinia|infections, Yersinia|yersiniosis|infections, Yersinia |Yersinia infection|Yersinia infection MESH:D015009|EFO:1001245|NCIT:C128337|SCTID:83436008 owl:Class MONDO:0009379 biolink:NamedThing Rotor syndrome Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology. tmpaxzxjjyw_mondo_relaxed.owl HBLRR|Rotor-type hyperbilirubinemia|Rotor syndrome|hyperbilirubinemia, Rotor type|hyperbilirubinemia, ROTOR type MedDRA:10039234|SCTID:32891000|GARD:0000218|OMIM:237450|UMLS:C0220991|Orphanet:3111|ICD10:E80.6 https://rarediseases.info.nih.gov/diseases/218/rotor-syndrome owl:Class MONDO:0003587 biolink:NamedThing pediatric liposarcoma A rare malignant neoplasm arising from adipocytes, that occurs in children. The tumor maybe one of several histologic types including well-differentiated, dedifferentiated, myxoid/round cell, and pleomorphic liposarcoma. tmpaxzxjjyw_mondo_relaxed.owl childhood liposarcoma|pediatric liposarcoma|liposarcoma DOID:5695|NCIT:C8091|UMLS:C0279984 owl:Class MONDO:0014846 biolink:NamedThing autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia autosomal recessive type 23|spinocerebellar ataxia, autosomal recessive 23|spinocerebellar ataxia, autosomal recessive type 23|SCAR23 Orphanet:404493|ICD10:G11.1|OMIM:616949|DOID:0111613|UMLS:C4310780 owl:Class MONDO:0004254 biolink:NamedThing focal intraductal papillomatosis tmpaxzxjjyw_mondo_relaxed.owl localized intraductal papillomatosis|focal intraductal papillomatosis NCIT:C7365|DOID:7512|UMLS:C1333626 owl:Class MONDO:0021098 biolink:NamedThing papillomatosis Glandular or squamous cell neoplastic proliferations characterized by the formation of multiple papillary structures diffusely involving a specific anatomic site. tmpaxzxjjyw_mondo_relaxed.owl papillomatosis NCIT:C3713 owl:Class MONDO:0001634 biolink:NamedThing bladder leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the bladder. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl urinary bladder leiomyoma|leiomyoma of bladder|leiomyoma of the urinary bladder|bladder leiomyoma|leiomyoma of the bladder|leiomyoma of urinary bladder NCIT:C6178|UMLS:C1332560|DOID:13109 owl:Class MONDO:0030700 biolink:NamedThing autoimmune glomerulonephritis An autoimmune form of glomerulonephritis (disease). tmpaxzxjjyw_mondo_relaxed.owl autoimmune glomerulonephritis (disease) DOID:0040094 owl:Class MONDO:0008311 biolink:NamedThing progeria-short stature-pigmented nevi syndrome Progeria-short stature-pigmented nevi is a progeroid disorder characterised by low birthweight, short stature, multiple pigmented nevi and lack of facial subcutaneous fat. tmpaxzxjjyw_mondo_relaxed.owl progeroid short stature with pigmented nevi|Mulvihill-Smith syndrome MESH:C536422|UMLS:C1261128|OMIM:176690|SCTID:399947002|Orphanet:2959|ICD9:759.89|GARD:0004494 owl:Class MONDO:0100024 biolink:NamedThing self-limited familial and non-familial infantile seizures This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life. tmpaxzxjjyw_mondo_relaxed.owl 2018-06-22 23:46:09+00:00 owl:Class GO:0042578 biolink:NamedThing phosphoric ester hydrolase activity Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:4000030 biolink:NamedThing exposure to decreased soil temperature A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of soil. tmpaxzxjjyw_mondo_relaxed.owl exposure to decreased amount in temperature of soil owl:Class FOODON:00001092 biolink:NamedThing vertebrate animal food product A food product which is derived from or produced by an animal that has a vertibrae. tmpaxzxjjyw_mondo_relaxed.owl Damion Dooley owl:Class HP:0011123 biolink:NamedThing Inflammatory abnormality of the skin The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. tmpaxzxjjyw_mondo_relaxed.owl Abnormal tendency to infections of the skin|Dermatitis|Inflammatory skin disease|Skin inflammation|Inflammatory abnormality of the skin UMLS:C3875321|MSH:D003872|SNOMEDCT_US:703938007|UMLS:C0011603|MP:0004947 peter 2011-06-12T10:06:04Z HP:0002727|HP:0007423 human_phenotype owl:Class MONDO:0008246 biolink:NamedThing pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of ''bone-corpuscle'' pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. tmpaxzxjjyw_mondo_relaxed.owl PPRCA|pigmented paravenous chorioretinal atrophy|PPCRA OMIM:172870|DOID:0111541|UMLS:C1868310|SCTID:723450004|MESH:C566801|ICD10:H35.5|Orphanet:251295 owl:Class MONDO:0012447 biolink:NamedThing synpolydactyly type 3 tmpaxzxjjyw_mondo_relaxed.owl synpolydactyly, Malik type|SPD, Malik type|SD2c|SD2, Malik type|synpolydactyly 3|SPD3 ICD10:Q70.2|Orphanet:93403|MESH:C565216|OMIM:610234|Orphanet:295199|ICD10:Q70.0|UMLS:C1853255 owl:Class MONDO:0011587 biolink:NamedThing cataract 25 A cataract that has material basis in variation in the region 15q21-q22. tmpaxzxjjyw_mondo_relaxed.owl CCSSO|central saccular cataract with sutural opacities|cataract type 25|cataract 25|CTRCT25|cataract, central saccular, with sutural opacities|central pouch-like cataract with sutural opacities|cataract, central pouch-like, with sutural opacities Orphanet:91492|DOID:0110254|ICD10:Q12.0|MESH:C565301|Orphanet:98985|OMIM:605728 owl:Class MONDO:0020372 biolink:NamedThing early-onset sutural cataract tmpaxzxjjyw_mondo_relaxed.owl early-onset cataract with Y-shaped suture opacities ICD10:Q12.0|Orphanet:98985|OMIM:605728 owl:Class MONDO:0015485 biolink:NamedThing primary hereditary glaucoma tmpaxzxjjyw_mondo_relaxed.owl primary glaucoma Orphanet:156005 owl:Class HGNC:14561 biolink:NamedThing ARHGEF9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:3193 biolink:NamedThing Embryophyta tmpaxzxjjyw_mondo_relaxed.owl land plants|plants|higher plants GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:131221 biolink:NamedThing Streptophytina tmpaxzxjjyw_mondo_relaxed.owl charophyte/embryophyte group|Charophyta/Embryophyta group GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007635 biolink:NamedThing Frasier syndrome Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma. tmpaxzxjjyw_mondo_relaxed.owl Frasier syndrome NCIT:C122805|SCTID:445431000|ICD10:N04.1|ICD9:759.89|OMIM:136680|UMLS:C0950122|GARD:0002375|MESH:D052159|DOID:0050438|Orphanet:347 https://rarediseases.info.nih.gov/diseases/2375/frasier-syndrome owl:Class HGNC:6142 biolink:NamedThing ITGA6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017479 biolink:NamedThing amelia of upper limb, bilateral tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q71.0|Orphanet:295055 owl:Class MONDO:0017437 biolink:NamedThing amelia of upper limb A non-syndromic amelia that involves the forelimb. tmpaxzxjjyw_mondo_relaxed.owl forelimb non-syndromic amelia|non-syndromic amelia of forelimb HP:0009812|Orphanet:294967|ICD10:Q71.0|SCTID:205306000 owl:Class MONDO:0004738 biolink:NamedThing histidine metabolism disease A disease that has its basis in the disruption of histidine metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of histidine metabolism|disturbance of histidine metabolism|disorder of histidine metabolic process|histidine metabolic process disease SCTID:44176004|UMLS:C0268512 owl:Class ECTO:7000070 biolink:NamedThing exposure to snow A exposure event involving the interaction of an exposure receptor to snow. tmpaxzxjjyw_mondo_relaxed.owl snow exposure owl:Class GO:0008168 biolink:NamedThing methyltransferase activity Catalysis of the transfer of a methyl group to an acceptor molecule. tmpaxzxjjyw_mondo_relaxed.owl methylase owl:Class MONDO:0018733 biolink:NamedThing intellectual disability syndrome due to a DYRK1A point mutation tmpaxzxjjyw_mondo_relaxed.owl DYRK1A-related intellectual disability syndrome due to a point mutation UMLS:CN242084|Orphanet:464311 owl:Class NCBITaxon:203490 biolink:NamedThing Fusobacteriia tmpaxzxjjyw_mondo_relaxed.owl Fusobacteria GC_ID:11 ncbi_taxonomy owl:Class MONDO:0032749 biolink:NamedThing hearing loss, autosomal recessive 94 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 94|DFNB94 DOID:0111641|OMIM:618434 owl:Class MONDO:0004012 biolink:NamedThing adult botryoid rhabdomyosarcoma A morphologic variant of embryonal rhabdomyosarcoma occurring in adults. The neoplasm arises from organs containing a mucosal epithelial surface. It is characterized by the formation of a cambium layer in the affected tissue and polypoid nodules with an abundant myxoid stroma. tmpaxzxjjyw_mondo_relaxed.owl botryoid rhabdomyosarcoma of adults|adult botryoid sarcoma|adult botryoid-type embryonal rhabdomyosarcoma NCIT:C36099|DOID:6847|UMLS:C1332185 owl:Class ENVO:01000685 biolink:NamedThing water mass A mass of water. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001476 biolink:NamedThing body of liquid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005835 biolink:NamedThing Lynch syndrome An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present. tmpaxzxjjyw_mondo_relaxed.owl hereditary non-polyposis colon cancer type 1|Lynch syndrome|hereditary defective mismatch repair syndrome|Hereditary colorectal endometrial cancer syndrome|familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|hereditary nonpolyposis colorectal neoplasm|Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|hereditary nonpolyposis colorectal cancer|Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)|HNPCC - hereditary nonpolyposis colon cancer OMIM:609310|OMIM:614337|OMIM:613244|MedDRA:10051981|OMIM:614385|EFO:0007354|DOID:3883|Orphanet:144|OMIM:120435|NCIT:C8494|SCTID:716318002|OMIM:614350|OMIM:614331|ICD10:D48.9|NCIT:C120083 Sometimes Lynch syndrome is also referred to as hereditary non-polyposis colorectal cancer (HNPCC), but the two conditions are subtly different. Lynch syndrome is classified by a mutation in mismatch repair genes. It is diagnosed by specific criteria known as the Amsterdam criteria. https://my.clevelandclinic.org/health/diseases/17195-lynch-syndrome--hnpcc|https://www.sciencedirect.com/topics/medicine-and-dentistry/amsterdam-criteria|https://github.com/monarch-initiative/mondo/issues/1673 owl:Class ENVO:00002261 biolink:NamedThing forest soil A portion of soil which is found in a forested area. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003581 biolink:NamedThing ovarian embryonal carcinoma An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain. tmpaxzxjjyw_mondo_relaxed.owl embryonal carcinoma|embryonal carcinoma of the ovary|ovary embryonal carcinoma|embryonal carcinoma of ovary|ovarian embryonal carcinoma ONCOTREE:OEC|UMLS:C0346183|SCTID:254872007|EFO:1000415|DOID:5681|NCIT:C8108 owl:Class MONDO:0007198 biolink:NamedThing Ascher syndrome Ascher syndrome is a very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported. tmpaxzxjjyw_mondo_relaxed.owl Double upper lip, blepharochalasis and enlargement of the thyroid|blepharochalasis and DOUBLE LIP|Ascher syndrome|Ascher's syndrome|blepharochalasis - double lip|blepharochalasis and Double lip|blepharochalasis and Double type lip|blepharochalasis-double lip syndrome|blepharochalasis and double lip UMLS:C0339085|GARD:0000201|OMIM:109900|ICD9:374.89|SCTID:28599006|MESH:C562742|ICD9:246.8|ICD10:Q87.0|Orphanet:1253 https://rarediseases.info.nih.gov/diseases/201/ascher-syndrome owl:Class MONDO:0017834 biolink:NamedThing secondary hypereosinophilic syndrome tmpaxzxjjyw_mondo_relaxed.owl reactive hypereosinophilic syndrome|secondary HES|HES-R UMLS:CN203809|ICD10:D47.5|Orphanet:314962 owl:Class GO:0040017 biolink:NamedThing positive regulation of locomotion Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. tmpaxzxjjyw_mondo_relaxed.owl up regulation of locomotion|up-regulation of locomotion|stimulation of locomotion|upregulation of locomotion|activation of locomotion owl:Class MONDO:0020643 biolink:NamedThing autism susceptibility 1 tmpaxzxjjyw_mondo_relaxed.owl AUTS1|autism susceptibility 1 OMIM:209850 owl:Class MONDO:0008741 biolink:NamedThing PAGOD syndrome PAGOD syndrome is a severe developmental syndrome characterized by multiple congenital anomalies including cardiovascular defects, pulmonary hypoplasia, diaphragmatic defects and genital anomalies. tmpaxzxjjyw_mondo_relaxed.owl Kennerknecht sorgo Oberhoffer syndrome|PAGOD syndrome|agonadism with multiple internal malformations|pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia|pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome ICD10:Q87.8|SCTID:722132007|GARD:0003086|MESH:C537018|Orphanet:991|OMIM:202660|UMLS:C1859967 owl:Class HGNC:15965 biolink:NamedThing DAZ3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014120 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 tmpaxzxjjyw_mondo_relaxed.owl MDDGA13|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13|Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related OMIM:615287|UMLS:C3809042|DOID:0111238|Orphanet:899 owl:Class UBERON:0001700 biolink:NamedThing geniculate ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009482 biolink:NamedThing hypogonadotropic hypogonadism 3 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the PROKR2 gene. tmpaxzxjjyw_mondo_relaxed.owl PROKR2 hypogonadotropic hypogonadism|Kallmann syndrome 3|hypogonadotropic hypogonadism caused by mutation in PROKR2|KAL3|HH3|hypogonadotropic hypogonadism 3 with or without anosmia UMLS:C3550478|DOID:0090092|OMIM:244200|Orphanet:478|GARD:0003073|ICD10:E23.0 owl:Class MONDO:0015008 biolink:NamedThing amelogenesis imperfecta, type 1J tmpaxzxjjyw_mondo_relaxed.owl AI1J|amelogenesis imperfecta, type 1J|amelogenesis imperfecta, type Ij OMIM:617297 owl:Class MONDO:0022574 biolink:NamedThing biliary atresia intrahepatic syndromic form tmpaxzxjjyw_mondo_relaxed.owl GARD:0000888 https://rarediseases.info.nih.gov/diseases/888/biliary-atresia-intrahepatic-syndromic-form owl:Class UBERON:0005251 biolink:NamedThing yolk sac cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000410 biolink:NamedThing funisitis An acute inflammation of the umbilical cord. It is characterized by the presence of polymorphonuclear cells migrating from the fetal umbilical cord vessels through the umbilical cord towards the bacteria containing amniotic fluid. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275592|NCIT:C97077|ICD9:658.80|DOID:0050698|SCTID:396343006 owl:Class CL:0002370 biolink:NamedThing respiratory goblet cell A simple columnar epithelial cell that secretes mucin. Rough endoplasmic reticulum, mitochondria, the nucleus, and other organelles are concentrated in the basal portion. The apical plasma membrane projects microvilli to increase surface area for secretion. tmpaxzxjjyw_mondo_relaxed.owl respiratory mucosa goblet cells tmeehan 2010-09-23T04:42:27Z cell owl:Class MONDO:0044784 biolink:NamedThing myxoma A benign soft tissue neoplasm characterized by the presence of spindle and stellate cells, lobulated growth pattern, and myxoid stroma formation. tmpaxzxjjyw_mondo_relaxed.owl MYXOMA, BENIGN|Myxoma NCIT:C6577|SCTID:404082003|ONCOTREE:MYXO owl:Class UBERON:0006279 biolink:NamedThing pleuroperitoneal canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4444 biolink:NamedThing GP9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007671 biolink:NamedThing fibronectin glomerulopathy Fibronectin glomerulopathy is a hereditary kidney disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. tmpaxzxjjyw_mondo_relaxed.owl glomerulopathy with fibronectin deposits|glomerular nephritis, familial, with fibronectin deposits|lobular glomerulopathy, familial|glomerulopathy with fibronectin deposits 1|glomerulopathy with giant fibrillar deposits|GFND2|fibronectin glomerulopathy|glomerulopathy with fibronectin deposits 2|GFND|GFND1 GARD:0009268|OMIMPS:137950|MESH:C536826|MESH:C562900|OMIM:137950|ICD10:N07.6|Orphanet:84090|OMIM:601894|SCTID:236535001 Editor note: consider splitting out type 1, and also separate class for giant subtype https://rarediseases.info.nih.gov/diseases/9268/glomerulopathy-with-fibronectin-deposits-1 owl:Class HGNC:18704 biolink:NamedThing NAA10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015039 biolink:NamedThing lissencephaly with cerebellar hypoplasia type F Lissencephaly with cerebellar hypoplasia type F (LCHf) is a severe form of lissencephaly with cerebellar hypoplasia, characterized by a microcephaly of at least - 3 SD and a thick cortex associated with complete absence of the corpus callosum. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274989|UMLS:CN228905|Orphanet:100016|SCTID:715822007|ICD10:Q04.3 owl:Class HGNC:8941 biolink:NamedThing SERPINA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4416 biolink:NamedThing GNPAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012362 biolink:NamedThing dilated cardiomyopathy 1P Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PLN gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, 1P|familial isolated dilated cardiomyopathy caused by mutation in PLN|dilated cardiomyopathy type 1P|CMD1P|cardiomyopathy, dilated, type 1P|PLN familial isolated dilated cardiomyopathy DOID:0110439|MESH:C563690|Orphanet:154|OMIM:609909|ICD10:I42.0|UMLS:C1835928 owl:Class MONDO:0008011 biolink:NamedThing antigen defined by monoclonal antibody T87 tmpaxzxjjyw_mondo_relaxed.owl antigen defined by monoclonal antibody T87|Msk2 OMIM:158040 owl:Class CL:2000033 biolink:NamedThing limb basal cell of epidermis Any basal cell of epidermis that is part of a limb. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-25T02:28:25Z cell owl:Class MONDO:0009585 biolink:NamedThing encephalopathy due to beta-mercaptolactate-cysteine disulfiduria tmpaxzxjjyw_mondo_relaxed.owl 3-mercaptopyruvate sulfurtransferase deficiency|Ampola syndrome|disulfiduria, mixed|Beta-mercaptolactate cysteine disulfiduria|mercaptolactate-cysteine disulfiduria|MCDU GARD:0000654|UMLS:C0796055|OMIM:249650|Orphanet:1035|ICD10:E72.1|MESH:C563085 owl:Class GO:0042698 biolink:NamedThing ovulation cycle The type of sexual cycle seen in females, often with physiologic changes in the endometrium that recur at regular intervals during the reproductive years. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7609 biolink:NamedThing MYO9B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021533 biolink:NamedThing intestinal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the small or large intestine. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpaxzxjjyw_mondo_relaxed.owl grade 1 neuroendocrine neoplasm of intestine|intestine carcinoid tumor|intestinal NET G1|carcinoid tumor of the intestine|intestinal neuroendocrine tumor G1|intestine neuroendocrine tumor, well differentiated, low grade|intestine carcinoid tumor (disease)|intestinal carcinoid tumor|intestine neuroendocrine neoplasm G1|intestine NET G1|carcinoid tumor of intestine SCTID:276816003|NCIT:C4637 owl:Class MONDO:0015262 biolink:NamedThing brachyolmia Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones. tmpaxzxjjyw_mondo_relaxed.owl brachyrachia DOID:0050690|OMIM:271630|Orphanet:1293|ICD10:Q76.3|SCTID:254088006|GARD:0010903|OMIM:113500|OMIM:271530|OMIM:613678|UMLS:C0432228|ICD9:756.19|MESH:C537098 owl:Class MONDO:0100107 biolink:NamedThing non-neonatal early infantile epileptic encephalopathy Non-neonatal early-onset epileptic encephalopathy is a form an of age-related epileptic encephalopathies, characterized by the onset of seizures later than the first 4 weeks of life but within the first three months. Seizures can be generalized or lateralized, independent of the sleep cycle and can occur multiple times per day, leading to psychomotor impairment and death. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011980 biolink:NamedThing crurotarsal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001488 biolink:NamedThing ankle joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007823 biolink:NamedThing insulin receptors, familial increase 1N tmpaxzxjjyw_mondo_relaxed.owl insulin receptors, familial increase type 1N|insulin receptors, familial increase IN 2022-04-01 OMIM:147320 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0007560 biolink:NamedThing reading seizures tmpaxzxjjyw_mondo_relaxed.owl epilepsy, reading Orphanet:166433|UMLS:C0278193|ICD10:G40.8|OMIM:132300 owl:Class CHEBI:53000 biolink:NamedThing epitope The biological role played by a material entity when bound by a receptor of the adaptive immune system. Specific site on an antigen to which an antibody binds. tmpaxzxjjyw_mondo_relaxed.owl epitope function|antigenic determinant|epitope role owl:Class MONDO:0004241 biolink:NamedThing Osgood-Schlatter disease Osteochondrosis of the growth plate near the tibial tuberosity. tmpaxzxjjyw_mondo_relaxed.owl aseptic necrosis of the tibial tubercle|juvenile osteochondrosis of tibial tubercle|Osteochondrosis of proximal tibia|Osgood-Schlatter disease|osteochondritis of tibial tubercle|Osteochondrosis of the tibial tubercle|Osgood-Schlatter's disease|osteochondritis of the tibial tubercle MedDRA:10031130|SCTID:72047008|Orphanet:97335|DOID:7489|SCTID:430506003|ICD10:M93.2|MESH:D055034|NCIT:C34874|ICD9:736.89 owl:Class MONDO:0011924 biolink:NamedThing panic disorder 2 tmpaxzxjjyw_mondo_relaxed.owl panic disorder type 2|Pand2|panic disorder 2|panic disorder susceptibility locus, chromosome 9Q-related UMLS:C1842922|OMIM:607853 owl:Class MONDO:0001022 biolink:NamedThing disuse amblyopia tmpaxzxjjyw_mondo_relaxed.owl deprivation amblyopia UMLS:C0152189|SCTID:193638002|ICD10:H53.01|ICD9:368.02|DOID:10378 owl:Class MONDO:0001727 biolink:NamedThing active cochleovestibular Meniere disease tmpaxzxjjyw_mondo_relaxed.owl cochleovestibular active Mnire's disease|active cochleovestibular Meniere's disease|active cochleovestibular Meniere disease|active Meniere's disease, cochleovestibular UMLS:C0155496|ICD9:386.01|SCTID:194348002|DOID:13490 owl:Class CHEBI:38182 biolink:NamedThing monohydroxypyridine A hydroxypyridine carrying a single hydroxy substituent. tmpaxzxjjyw_mondo_relaxed.owl monohydroxypyridines owl:Class FOODON:03420155 biolink:NamedThing obsolete: seed (anatomical part) The main propagative part of a plant, especially the kernel of a grain or nut. The bulk of the seed is formed by the endosperm, which encloses the germ and is covered by skin (bran). tmpaxzxjjyw_mondo_relaxed.owl seed True owl:Class GO:0051885 biolink:NamedThing positive regulation of timing of anagen Any process that activates or increases the frequency, rate or extent of timing of anagen, the growth phase of the hair cycle. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of anagen|up regulation of anagen|stimulation of anagen|activation of anagen|upregulation of anagen|positive regulation of anagen owl:Class HGNC:3588 biolink:NamedThing FANCG tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001071 biolink:NamedThing superficial cervical artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019734 biolink:NamedThing juvenile polymyositis An idiopathic inflammatory myopathy of childhood resulting in muscle weakness. tmpaxzxjjyw_mondo_relaxed.owl JPM|juvenile PM NCIT:C114358|SCTID:738526005|UMLS:C3826988|Orphanet:93568|EFO:1001988|ICD10:M33.2|GARD:0012742 https://rarediseases.info.nih.gov/diseases/12742/juvenile-polymyositis owl:Class MONDO:0013908 biolink:NamedThing thyrotoxic periodic paralysis, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl thyrotoxic periodic paralysis, susceptibility to, 3|TTPP3 OMIM:614834|Orphanet:79102 owl:Class CL:0000381 biolink:NamedThing neurosecretory neuron tmpaxzxjjyw_mondo_relaxed.owl FBbt:00005130 cell owl:Class GO:0106016 biolink:NamedThing positive regulation of inflammatory response to wounding Any process that activates or increases the frequency, rate or extent of the inflammatory response to wounding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020554 biolink:NamedThing Heiner syndrome Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis, digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet. tmpaxzxjjyw_mondo_relaxed.owl cow's milk hypersensitivity ICD10:E83.1+|UMLS:CN207456|ICD10:J99.8*|Orphanet:99932|ICD9:518.89|SCTID:707441009 owl:Class MONDO:0020553 biolink:NamedThing secondary pulmonary hemosiderosis Secondary pulmonary hemosiderosis is a respiratory disease due to the deposition of hemosiderin-laden macrophages in lungs as a result of repeated alveolar hemorrhage secondary to another disease, especially dysimmunitary disorders (i.e. Heiner syndrome, autoimmune diseases), thrombotic disorders and cardiovascular disorders such as mitral stenosis. It manifests as a triad of hemoptysis, anemia and diffuse parenchymal infiltrates on chest radiography tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99930|ICD10:J99.8*|SCTID:716712004|UMLS:C4274326|ICD10:E83.1+ owl:Class MONDO:0021645 biolink:NamedThing esophageal varices with bleeding tmpaxzxjjyw_mondo_relaxed.owl ICD10:I85.0|SCTID:17709002|ICD10:I85.01|ICD9:456.0 owl:Class HGNC:21575 biolink:NamedThing AHI1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019080 biolink:NamedThing alopecia totalis Alopecia totalis is a form of alopecia areata, an inflammatory disease of the hair follicle, characterized by a complete loss of hair of the entire scalp which becomes glabrous. tmpaxzxjjyw_mondo_relaxed.owl total alopecia areata|alopecia totalis OMIM:610753|OMIM:300042|SCTID:19754005|Orphanet:700|OMIM:104000|MedDRA:10001766|ICD9:704.09|GARD:0000613|UMLS:C0263504|ICD10:L63.0 owl:Class MONDO:0007257 biolink:NamedThing candidiasis, familial, 1 tmpaxzxjjyw_mondo_relaxed.owl candidiasis, familial, 1|Cmct|candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease|CANDF1 UMLS:C2751429|MESH:C567779|OMIM:114580 owl:Class MONDO:0100442 biolink:NamedThing RP2-related retinopathy A retinopathy caused by variants in the X-linked gene, RP2. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 2|RP2 retinitis pigmentosa|RP2|retinitis pigmentosa caused by mutation in RP2|RP2 retinopathy|retinitis pigmentosa 2 owl:Class GO:0051956 biolink:NamedThing negative regulation of amino acid transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of amino acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl downregulation of amino acid transport|down-regulation of amino acid transport|inhibition of amino acid transport|negative regulation of amino acid transmembrane transport|down regulation of amino acid transport owl:Class HGNC:2708 biolink:NamedThing DCR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000924 biolink:NamedThing compensatory emphysema tmpaxzxjjyw_mondo_relaxed.owl ICD10:J98.3|ICD9:518.2|SCTID:33325001|UMLS:C0155918|DOID:10031 owl:Class MONDO:0003003 biolink:NamedThing cervical alveolar soft part sarcoma An alveolar soft part sarcoma arising from the cervix. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40225|DOID:4442|UMLS:C1516408 owl:Class MONDO:0015104 biolink:NamedThing porphyria cutanea tarda Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis. tmpaxzxjjyw_mondo_relaxed.owl PCT|porphyria cutania tarda NCIT:C27725|UMLS:C0162566|ONCOTREE:PCT|GARD:0007433|MESH:D017119|ICD10:E80.1|Orphanet:101330|DOID:3132|SCTID:61860000|MedDRA:10036183|OMIM:176100|OMIM:176090 Editor notes: ORDO classifies as inherited but in fact many forms are inherited owl:Class MONDO:0008634 biolink:NamedThing urticaria, familial localized heat tmpaxzxjjyw_mondo_relaxed.owl urticaria, familial localized heat MESH:C566011|UMLS:C1860551|OMIM:191950 owl:Class MONDO:0013555 biolink:NamedThing Hermansky-Pudlak syndrome 3 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene. tmpaxzxjjyw_mondo_relaxed.owl Hermansky-Pudlak syndrome 3|Hermansky-Pudlak syndrome type 3|HPS3|HPS3 Hermansky-Pudlak syndrome|Hermansky-Pudlak syndrome caused by mutation in HPS3 OMIM:614072|Orphanet:79430|Orphanet:231512|UMLS:C3888001|DOID:0060541 owl:Class UBERON:0006853 biolink:NamedThing renal cortex tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002789 biolink:NamedThing hemangiopericytic tumor A term that refers to vascular neoplasms with a prominent hemangiopericytic growth pattern. tmpaxzxjjyw_mondo_relaxed.owl hemangiopericytic neoplasm EFO:1000289|UMLS:C0476144|NCIT:C7076|DOID:3850 Editor note: TODO check relationship to spindle cell tumor owl:Class MONDO:0024171 biolink:NamedThing radio-digito-facial dysplasia tmpaxzxjjyw_mondo_relaxed.owl Van Goethem syndrome GARD:0004629 owl:Class MONDO:0017490 biolink:NamedThing tibial hemimelia, unilateral tmpaxzxjjyw_mondo_relaxed.owl tibial longitudinal meromelia, unilateral ICD10:Q72.5|UMLS:CN203228|Orphanet:295077 owl:Class MONDO:0011720 biolink:NamedThing spermatogenic failure 3 Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene. tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure type 3|spermatogenic failure 3|azoospermia caused by mutation in SLC26A8|SLC26A8 azoospermia|SPGF3 DOID:0070168|UMLS:C1847540|OMIM:606766|Orphanet:276234|MESH:C564665 owl:Class HGNC:2888 biolink:NamedThing DISC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002846 biolink:NamedThing granulomatous gastritis Gastritis that is associated with the presence of granulomas. tmpaxzxjjyw_mondo_relaxed.owl granulomatous gastritis DOID:4038|UMLS:C1112577|NCIT:C27348|ICD10:K29.6 owl:Class MONDO:0001800 biolink:NamedThing equatorial staphyloma tmpaxzxjjyw_mondo_relaxed.owl ICD10:H15.81|UMLS:C0155361|ICD9:379.13|DOID:13788|SCTID:82146006 owl:Class MONDO:0015761 biolink:NamedThing trisomy 10p Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10. tmpaxzxjjyw_mondo_relaxed.owl chromosome 10p duplication|Duplication 10p|trisomy type 10p|partial trisomy 10p|10p trisomy|10p duplication UMLS:C4082793|MESH:C538290|SCTID:717157006|GARD:0005299|Orphanet:171929|ICD10:Q92.2 owl:Class UBERON:0001743 biolink:NamedThing ligament of larynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003355 biolink:NamedThing ovary leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of ovary|ovary leiomyosarcoma|ovarian leiomyosarcoma|leiomyosarcoma of the ovary DOID:5263|NCIT:C5234|EFO:0006718|UMLS:C1335163 owl:Class MONDO:0100353 biolink:NamedThing HHV-7 infectious disease A disease caused by infection with herpesvirus-7. tmpaxzxjjyw_mondo_relaxed.owl HHV-7 infection|herpesvirus-7 infectious disease http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010812 biolink:NamedThing macrocytosis, familial tmpaxzxjjyw_mondo_relaxed.owl macrocytosis, familial UMLS:C1838656|OMIM:600084|MESH:C564004 owl:Class MONDO:0019157 biolink:NamedThing acquired idiopathic sideroblastic anemia Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS. tmpaxzxjjyw_mondo_relaxed.owl refractory anemia with ringed sideroblasts|Pure sideroblastic Anemia|RARS|refractory Anemia with ringed sideroblasts|refractory Anemia with Ring sideroblasts|AISA|MDS-RS|primary acquired sideroblastic anemia|myelodysplastic syndrome with Ring sideroblasts ICD10:D64.3|ICDO:9982/3|NCIT:C4036|SCTID:109998009|ICD9:238.72|EFO:0003812|Orphanet:75564 MONDO:0005274 owl:Class CHEBI:83970 biolink:NamedThing cardiac glycoside Steroid lactones containing sugar residues that act on the contractile force of the cardiac muscles. tmpaxzxjjyw_mondo_relaxed.owl cardiac glycosides owl:Class CHEBI:24400 biolink:NamedThing glycoside A glycosyl compound resulting from the attachment of a glycosyl group to a non-acyl group RO-, RS-, RSe-, etc. The bond between the glycosyl group and the non-acyl group is called a glycosidic bond. By extension, the terms N-glycosides and C-glycosides are used as class names for glycosylamines and for compounds having a glycosyl group attached to a hydrocarbyl group respectively. These terms are misnomers and should not be used. The preferred terms are glycosylamines and C-glycosyl compounds, respectively. tmpaxzxjjyw_mondo_relaxed.owl glycosides|O-glycoside|O-glycosides owl:Class HGNC:4803 biolink:NamedThing HADHB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015046 biolink:NamedThing gamma-heavy chain disease Gamma-heavy chain disease (gamma-HCD) is a type of HCD characterized by the production of incomplete monoclonal gamma-heavy chains without associated light chains. The clinical presentation most commonly resembles that of patients with systemic lymphoproliferative/autoimmune diseases. tmpaxzxjjyw_mondo_relaxed.owl Franklin disease|gamma heavy chain disease|Franklin's disease|gamma-HCD ICD9:273.2|ICD10:C88.2|Orphanet:100026|GARD:0010346|DOID:0060127|NCIT:C3083|SCTID:109984001 owl:Class CL:0000530 biolink:NamedThing primary neuron tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class NCBITaxon:38820 biolink:NamedThing Poales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:26350789 NCBITaxon:4727|NCBITaxon:4478 ncbi_taxonomy owl:Class MONDO:0010453 biolink:NamedThing intellectual disability, X-linked 92 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked 92|mental retardation, X-linked 92|MRX92 UMLS:C1845144|MESH:C564483|OMIM:300851 owl:Class NCBITaxon:6656 biolink:NamedThing Arthropoda tmpaxzxjjyw_mondo_relaxed.owl arthropods GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011404 biolink:NamedThing Caronte tmpaxzxjjyw_mondo_relaxed.owl Car|Caronte OMIM:604172 Editor note: TODO check owl:Class MONDO:0011598 biolink:NamedThing atopic dermatitis 4 An atopic dermatitis associated with variation in the region 17q25.3. tmpaxzxjjyw_mondo_relaxed.owl ATOD4|dermatitis, ATOPIC, 4|atopic dermatitis type 4 DOID:0110100|MESH:C565291|OMIM:605805|UMLS:C1853963 owl:Class MONDO:0005834 biolink:NamedThing lymphogranuloma venereum Infection with the organism Mycobacterium. tmpaxzxjjyw_mondo_relaxed.owl Poradenitis inguinale|strumous bubo|climatic or tropical bubo|lymph granuloma inguinale|Durand-Nicolas-Favre disease|LGV|lymphogranuloma inguinale MESH:D008219|EFO:0007353|ICD9:099.1|UMLS:C0024286|SCTID:186946009|DOID:13819|ICD10:A55|GARD:0009545|NCIT:C26822 https://rarediseases.info.nih.gov/diseases/9545/lymphogranuloma-venereum owl:Class HGNC:10526 biolink:NamedThing SALL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014526 biolink:NamedThing polyglucosan body myopathy type 2 Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene. tmpaxzxjjyw_mondo_relaxed.owl polyglucosan body myopathy 2|PGBM2|polyglucosan body myopathy type 2|polyglucosan body myopathy caused by mutation in GYG1|GYG1 polyglucosan body myopathy UMLS:C4015452|Orphanet:456369|ICD10:E74.0|OMIM:616199 owl:Class MONDO:0000162 biolink:NamedThing autoimmune thyroid disease, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014613 biolink:NamedThing cervical spinal cord gray matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020736 biolink:NamedThing uncombable hair syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl pili trianguli Et canaliculi|uncombable hair syndrome 1|uncombable hair syndrome|UHS1 OMIM:191480|UMLS:C0432347|Orphanet:1410 owl:Class MONDO:0008621 biolink:NamedThing uncombable hair syndrome Uncombable hair syndrome (UHS), or pili trianguli et canaliculi, is a rare scalp hair shaft dysplasia. tmpaxzxjjyw_mondo_relaxed.owl pili trianguli et canaliculi|cheveux incoiffables|uncombable hair syndrome|unmanageable hair syndrome|spun glass hair ICD10:Q84.1|OMIM:191480|SCTID:254230001|OMIM:617252|MESH:C536939|OMIM:617251|GARD:0005404|UMLS:C0432347|Orphanet:1410 https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome owl:Class HGNC:12463 biolink:NamedThing UBB tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:30528 biolink:NamedThing DNAJC19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:9001334 biolink:NamedThing exposure to primary alcohol An exposure to primary alcohol. tmpaxzxjjyw_mondo_relaxed.owl exposure to primary alcohol owl:Class MONDO:0007694 biolink:NamedThing hairy nose tip tmpaxzxjjyw_mondo_relaxed.owl HNT|hairy nose tip MESH:C535619|GARD:0008465|OMIM:139630 https://rarediseases.info.nih.gov/diseases/8465/hairy-nose-tip owl:Class UBERON:0035828 biolink:NamedThing right adrenal gland medulla tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007589 biolink:NamedThing exudative vitreoretinopathy 1 tmpaxzxjjyw_mondo_relaxed.owl Fevr, autosomal dominant|exudative vitreoretinopathy type 1|exudative vitreoretinopathy, familial, autosomal dominant|exudative vitreoretinopathy 1|EVR1|Criswick-Schepens syndrome|retinopathy of prematurity OMIM:133780|Orphanet:891|MESH:C536382|Orphanet:90050|DOID:0111412|UMLS:C1851402 owl:Class MONDO:0017512 biolink:NamedThing split hand, bilateral Split hand, bilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:295122|ICD10:Q71.6 owl:Class MONDO:0017449 biolink:NamedThing split hand Split hand is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by bilateral or unilateral underdevelopment or absence of the central rays of the autopod, with absence of all or just some of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. tmpaxzxjjyw_mondo_relaxed.owl split hand|split hand (disease)|ectrodactyly of hand split hand (disease) HP:0001171|Orphanet:294992|ICD10:Q71.6 owl:Class MONDO:0005613 biolink:NamedThing mesonephric adenocarcinoma An adenocarcinoma of the cervix or the vagina arising from mesonephric remnants. tmpaxzxjjyw_mondo_relaxed.owl malignant Mesonephroma NCIT:C4072|EFO:0006719|ICDO:9110/3 owl:Class MONDO:0012494 biolink:NamedThing testicular microlithiasis tmpaxzxjjyw_mondo_relaxed.owl testicular microlithiasis (disease)|testicular microlithiasis testicular microlithiasis (disease) HP:0012215|MESH:C566478|OMIM:610441|UMLS:C1864873 owl:Class GO:0051058 biolink:NamedThing negative regulation of small GTPase mediated signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of small GTPase mediated signal transduction. tmpaxzxjjyw_mondo_relaxed.owl downregulation of small GTPase mediated signal transduction|negative regulation of small GTPase-mediated signal transduction|inhibition of small GTPase mediated signal transduction|down-regulation of small GTPase mediated signal transduction|down regulation of small GTPase mediated signal transduction owl:Class PATO:0001995 biolink:NamedThing organismal quality A quality that inheres in an entire organism or part of an organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025420 biolink:NamedThing gastroenteritis, transmissible, of swine A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a coronavirus. tmpaxzxjjyw_mondo_relaxed.owl transmissible gastroenteritis, swine|porcine gastroenteritis, transmissible|transmissible porcine Gastroenteritides|swine transmissible gastroenteritis|swine transmissible Gastroenteritides|gastroenteritis, swine transmissible|gastroenteritis, transmissible porcine|Gastroenteritides, swine transmissible|gastroenteritis, transmissible, porcine|transmissible gastroenteritis, porcine|Gastroenteritides, transmissible porcine|Gastroenteritides, porcine transmissible|transmissible porcine gastroenteritis|transmissible gastroenteritis of swine|porcine Gastroenteritides, transmissible|porcine transmissible gastroenteritis|transmissible Gastroenteritides, porcine|porcine transmissible Gastroenteritides|gastroenteritis, porcine transmissible|transmissible Gastroenteritides, swine UMLS:C0017162|MESH:D005761 owl:Class MONDO:0032685 biolink:NamedThing infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development tmpaxzxjjyw_mondo_relaxed.owl INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT|infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development|CASGID OMIM:618339 owl:Class MONDO:0011831 biolink:NamedThing arrhythmogenic right ventricular dysplasia 8 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene. tmpaxzxjjyw_mondo_relaxed.owl ARVC8|familial arrhythmogenic right ventricular dysplasia 8|arrhythmogenic right ventricular dysplasia, familial, 8|DSP arrhythmogenic right ventricular cardiomyopathy|arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP|ARVD8|arrhythmogenic right ventricular cardiomyopathy 8|arrhythmogenic right ventricular dysplasia type 8|arrhythmogenic right ventricular dysplasia, familial, type 8|arrhythmogenic right ventricular dysplasia 8 Orphanet:217656|OMIM:607450|UMLS:C1843896|DOID:0110076|MESH:C564400|ICD10:I42.8 owl:Class MONDO:0002388 biolink:NamedThing intracystic papillary adenoma A papillary epithelial neoplasm arising in a cystically dilated breast duct. tmpaxzxjjyw_mondo_relaxed.owl intracystic papilloma|intracystic papillary adenoma (morphologic abnormality)|intracystic papillary adenoma NCIT:C4191|ICDO:8504/0|DOID:2682|UMLS:C0334374 owl:Class MONDO:0004411 biolink:NamedThing duodenal gastrin-producing neuroendocrine tumor A gastrin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of uniform cells that form pseudorosettes. The neoplastic cells have uniform nuclei and small amount of eosinophilic cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl gastrinoma of the duodenum|gastrin-producing neuroendocrine tumor of duodenum|duodenal G-cell gastrin producing tumor|gastrinoma of duodenum|duodenal gastrinoma|duodenal gastrin-producing neuroendocrine tumor|duodenal gastrin-producing NET|gastrin producing tumor of the duodenum|malignant duodenal gastrinoma|duodenum gastrin-producing neuroendocrine tumor|gastrin producing tumor of duodenum EFO:1000224|NCIT:C5731|DOID:7959|UMLS:C1333321 owl:Class MONDO:0024885 biolink:NamedThing malignant ovarian serous tumor An invasive malignant neoplasm that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia. It includes serous adenocarcinoma and serous adenocarcinofibroma. tmpaxzxjjyw_mondo_relaxed.owl malignant ovarian serous tumor|ovarian serous tumor, malignant NCIT:C40025 owl:Class CHEBI:59740 biolink:NamedThing nucleophilic reagent A reagent that forms a bond to its reaction partner (the electrophile) by donating both bonding electrons. tmpaxzxjjyw_mondo_relaxed.owl nucleophile|nucleophilic reagents|nucleophiles owl:Class GO:0098531 biolink:NamedThing ligand-activated transcription factor activity A DNA-binding transcription factor activity regulated by binding to a ligand and that modulates the transcription of specific gene sets. Examples include the lac and trp repressors in E.coli and steroid hormone receptors. tmpaxzxjjyw_mondo_relaxed.owl direct ligand regulated sequence-specific DNA binding transcription factor activity|transcription factor activity, direct ligand regulated sequence-specific DNA binding owl:Class ENVO:01000818 biolink:NamedThing cryosphere A cryosphere is that part of a planet which is primarily composed of water is in solid form. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:03000110 biolink:NamedThing cryoform A geographic feature which is primarily composed of a continuous mass of snow and/or ice. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024496 biolink:NamedThing tumor grade 2 or 3, general grading system A morphologic qualifier indicating that a neoplastic lesion is moderately to poorly differentiated. tmpaxzxjjyw_mondo_relaxed.owl grade 2/3 NCIT:C94678 owl:Class MONDO:0006393 biolink:NamedThing rectal traditional serrated adenoma An adenoma that arises from the rectum. It is characterized by prominent serration of the glands and the presence of generalized low-grade dysplasia. tmpaxzxjjyw_mondo_relaxed.owl rectal serrated adenoma type II|rectal traditional serrated adenoma|rectal TSA|rectal serrated adenoma EFO:1000503|NCIT:C96463|UMLS:C3272790 owl:Class MONDO:0007590 biolink:NamedThing hemifacial hypertrophy Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties. tmpaxzxjjyw_mondo_relaxed.owl hemifacial hyperplasia|facial asymmetry|hemifacial hypertrophy|facial hemihypertrophy OMIM:133900|Orphanet:141145|ICD10:Q67.4|UMLS:C1399354 owl:Class MONDO:0018259 biolink:NamedThing didymosis aplasticosebacea tmpaxzxjjyw_mondo_relaxed.owl aplasia cutis congenita-nevus sebaceus syndrome Orphanet:370046|UMLS:CN204834|ICD10:Q84.8 owl:Class MONDO:0100065 biolink:NamedThing TH-deficient infantile parkinsonism and motor delay A tyrosine hydroxylase deficiency with onset typically between age three and 12 months. Motor milestones are overtly delayed in this severe form. Affected infants demonstrate truncal hypotonia and parkinsonian symptoms and signs (hypokinesia, rigidity of extremities, and/or tremor). tmpaxzxjjyw_mondo_relaxed.owl tyrosine hydroxylase infantile parkinsonism and motor delay 2018-11-10 00:07:39+00:00 owl:Class UBERON:0001251 biolink:NamedThing marginal zone of spleen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005134 biolink:NamedThing experimental autoimmune encephalomyelitis An autoimmune demyelinating disease of the central nervous system that is produced experimentally in animals by the injection of homogenized brain or spinal cord in Freund's adjuvant. Myelin basic protein appears to be the antigen that elicits the hypersensitivity immune response which is characterized by focal areas of lymphocyte and macrophage infiltration into the brain, associated with demyelination and destruction of the blood-brain barrier. Experimental allergic encephalomyelitis (EAE) is used as an animal model for demyelinating diseases of the human central nervous system such as multiple sclerosis. tmpaxzxjjyw_mondo_relaxed.owl MESH:D004681|EFO:0001066|NCIT:C3006 owl:Class HGNC:7975 biolink:NamedThing NR2F1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032781 biolink:NamedThing positive regulation of ATPase activity Any process that activates or increases the rate of ATP hydrolysis by an ATPase. tmpaxzxjjyw_mondo_relaxed.owl activation of ATPase activity|upregulation of ATPase activity|up-regulation of ATPase activity|positive regulation of adenosinetriphosphatase activity|stimulation of ATPase activity|up regulation of ATPase activity owl:Class MONDO:0007284 biolink:NamedThing cataract 20 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the CRYGS gene. tmpaxzxjjyw_mondo_relaxed.owl CTRCT20|CRYGS cataract (disease)|cataract 20, multiple types|cataract (disease) caused by mutation in CRYGS Orphanet:91492|OMIM:116100|DOID:0110240|ICD10:Q12.0|Orphanet:98994 owl:Class NCIT:C36869 biolink:NamedThing Spindle Melanocyte tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C36862 biolink:NamedThing Neoplastic Melanocyte tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4235 biolink:NamedThing GFAP tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009112 biolink:NamedThing nucleobase metabolic process The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. tmpaxzxjjyw_mondo_relaxed.owl nucleobase metabolism owl:Class MONDO:0004279 biolink:NamedThing glossopharyngeal motor neuropathy Diseases of the ninth cranial (glossopharyngeal) nerve or its nuclei in the medulla. The nerve may be injured by diseases affecting the lower brain stem, floor of the posterior fossa, jugular foramen, or the nerve's extracranial course. Clinical manifestations include loss of sensation from the pharynx, decreased salivation, and syncope. Glossopharyngeal neuralgia refers to a condition that features recurrent unilateral sharp pain in the tongue, angle of the jaw, external auditory meatus and throat that may be associated with syncope. Episodes may be triggered by cough, sneeze, swallowing, or pressure on the tragus of the ear. (Adams et al., Principles of Neurology, 6th ed, p1390) tmpaxzxjjyw_mondo_relaxed.owl glossopharyngeal nerve motor peripheral neuropathy|motor peripheral neuropathy of glossopharyngeal nerve NCIT:C27212|DOID:7558|UMLS:C0751942 owl:Class MONDO:0007422 biolink:NamedThing keratoderma hereditarium mutilans tmpaxzxjjyw_mondo_relaxed.owl mutilating keratoderma plus deafness|mutilating keratoderma of Vohwinkel|deafness, congenital, with KERATOPACHYDERMIA and constrictions of fingers and toes|PPK mutilans and deafness|VOWNKL|KHM|Vohwinkel syndrome|keratoderma hereditarium mutilans|mutilating keratoderma ICD10:Q82.8|OMIM:124500|Orphanet:494|MESH:C536457|SCTID:24559001|ICD9:757.39|DOID:0111339|GARD:0003092 owl:Class PATO:0000117 biolink:NamedThing size A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012168 biolink:NamedThing dyslexia, susceptibility to, 8 tmpaxzxjjyw_mondo_relaxed.owl dyslexia, susceptibility to, 8|DYX8 OMIM:608995 owl:Class MONDO:0016985 biolink:NamedThing nevus of Ito Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and may in rare occasions occur together with the latter. tmpaxzxjjyw_mondo_relaxed.owl nevus fuscocaeruleus acromiodeltoideus|nevi of Ito|hypomelanosis of Ito|Ito's Nevus GARD:0010830|Orphanet:263432|UMLS:C0022283|UMLS:CN202288|ICD10:D22.6|EFO:1000395|NCIT:C7582 owl:Class UBERON:0009630 biolink:NamedThing root of thoracic nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017408 biolink:NamedThing rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome A very rare disorder that appears after the first year and a half of life in previously healthy children. It is characterized by rapid-onset weight gain, hypothalamic dysfunction, breathing abnormalities, and autonomic system dysregulation. The hypothalamic dysfunction manifestations include inability to maintain normal water balance, high prolactin levels, low thyroid, low cortisol, and early or late puberty. The breathing abnormalities include sleep apnea and alveolar hypoventilation, requiring ventilation support. The autonomic system dysregulation includes eye abnormalities, intestinal abnormalities, temperature dysregulation, and low heart rhythm. This disorder requires early recognition because it may lead to cardiorespiratory arrest. Up to 40% of the patients develop tumors of neural crest origin. tmpaxzxjjyw_mondo_relaxed.owl rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome|ROHHAD|ROHHAD syndrome|rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation|rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome|rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation|ROHHADNET GARD:0010407|NCIT:C121944|UMLS:C4053506|Orphanet:293987|UMLS:CN203158 owl:Class MONDO:0017491 biolink:NamedThing tibial hemimelia, bilateral tmpaxzxjjyw_mondo_relaxed.owl tibial longitudinal meromelia, bilateral Orphanet:295079|ICD10:Q72.5|UMLS:CN203229 owl:Class MONDO:0004556 biolink:NamedThing carcinoma arising in nasal papillomatosis A rare squamous cell carcinoma that either arises from or is associated with the presence of inverted papilloma in the nose. tmpaxzxjjyw_mondo_relaxed.owl carcinoma arising in nasal papillomatosis DOID:8415|UMLS:C1332840|NCIT:C27389 owl:Class MONDO:0007605 biolink:NamedThing fibrinolytic defect tmpaxzxjjyw_mondo_relaxed.owl fibrinolytic defect UMLS:C1851184|MESH:C565017|OMIM:134900 owl:Class HGNC:8583 biolink:NamedThing SERPINE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019951 biolink:NamedThing rigid spine syndrome Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, congenital, merosin positive with early spine rigidity|rigid spine muscular dystrophy-1|desmin-related myopathies with Mallory bodies|rigid spine congenital muscular dystrophy OMIM:602771|GARD:0004723|Orphanet:97244|ICD10:G71.2|MESH:C535683 owl:Class GO:0015723 biolink:NamedThing bilirubin transport The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013218 biolink:NamedThing exudative vitreoretinopathy 5 Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the TSPAN12 gene. tmpaxzxjjyw_mondo_relaxed.owl EVR5|exudative vitreoretinopathy caused by mutation in TSPAN12|exudative vitreoretinopathy 5|TSPAN12 exudative vitreoretinopathy|exudative vitreoretinopathy type 5 MESH:C567648|DOID:0111408|Orphanet:891|UMLS:C2750079|OMIM:613310 owl:Class MONDO:0011069 biolink:NamedThing cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction tmpaxzxjjyw_mondo_relaxed.owl cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction|Frydman Cohen Ashkenazi syndrome|cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction UMLS:C1832391|GARD:0001227|MESH:C538072|OMIM:601389 https://rarediseases.info.nih.gov/diseases/1227/cervical-ribs-sprengel-anomaly-anal-atresia-and-urethral-obstruction owl:Class MONDO:0024893 biolink:NamedThing toxocara canis infection (canine roundworms) tmpaxzxjjyw_mondo_relaxed.owl Toxocara catis infection (feline roundworms)|Human infection with the larvae of canine or feline roundworms UMLS:C2930846|MESH:C531834 owl:Class HGNC:29941 biolink:NamedThing GATAD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004942 biolink:NamedThing orbit lymphoma A lymphoma that arises from the structures of the orbit. Representative examples include mucosa-associated lymphoid tissue lymphoma, follicular lymphoma, and diffuse large B-cell lymphoma. tmpaxzxjjyw_mondo_relaxed.owl orbital lymphoma|primary orbit lymphoma|lymphoma of orbit|primary orbital lymphoma|lymphoma of the orbit GARD:0009719|SCTID:13048006|DOID:9986|NCIT:C6244|MESH:C537131|UMLS:C0271333 owl:Class MONDO:0008569 biolink:NamedThing thyroid hormone resistance, generalized, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl hyperthyroxinemia, familial euthyroid, secondary to pituitary and peripheral resistance to thyroid hormones|thyroid hormone unresponsiveness|GRTH|thyroid hormone resistance, generalized, autosomal dominant|Gthr Orphanet:3221|UMLS:C2937288|OMIM:188570|MESH:C567934 owl:Class MONDO:0014508 biolink:NamedThing vitelliform macular dystrophy 4 Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene. tmpaxzxjjyw_mondo_relaxed.owl macular dystrophy, vitelliform, 4|VMD4|macular dystrophy, vitelliform, type 4|IMPG1 vitelliform macular dystrophy|vitelliform macular dystrophy caused by mutation in IMPG1 UMLS:C4015342|OMIM:616151|Orphanet:99000 owl:Class MONDO:0004612 biolink:NamedThing malignant histiocytosis Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of macrophages and dendritic cells. tmpaxzxjjyw_mondo_relaxed.owl histiocytic medullary reticulosis|malignant reticulosis|malignant histiocytic disorders|malignant histiocytic disease|disorders, malignant histiocytic|Stewart's granuloma|histiocytic disorder, malignant|malignant midline reticulosis ICD9:202.3|ICDO:9750/3|DOID:2570|EFO:1001499|DOID:8580|SCTID:118612006|ICD10:C96.1|UMLS:C0019623|MESH:D015620|ICD10:C96.A|NCIT:C7202 owl:Class UBERON:0010189 biolink:NamedThing right atrium venous valve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005208 biolink:NamedThing right atrium valve tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C13018 biolink:NamedThing Organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012397 biolink:NamedThing brachydactyly, coloboma, and anterior segment dysgenesis tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, coloboma, and anterior segment dysgenesis OMIM:610023|UMLS:C1864901|MESH:C566484 owl:Class MONDO:0013881 biolink:NamedThing congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair. tmpaxzxjjyw_mondo_relaxed.owl JEB-RR|congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome|ILNEB|congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome|congenital NEP syndrome|interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital|junctional epidermolysis bullosa with respiratory and renal involvement|JEB with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital ILNEB syndrome OMIM:614748|Orphanet:306504|UMLS:C3553636 owl:Class NCBITaxon:116925 biolink:NamedThing Troglotremata tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014190 biolink:NamedThing combined oxidative phosphorylation defect type 17 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency caused by mutation in ELAC2|COXPD17|combined oxidative phosphorylation deficiency 17|combined oxidative phosphorylation deficiency type 17|ELAC2 combined oxidative phosphorylation deficiency ICD10:E88.8|UMLS:C3809526|DOID:0111496|Orphanet:369913|OMIM:615440 owl:Class MONDO:0017995 biolink:NamedThing spondylocostal dysostosis-hypospadias-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:329252|UMLS:CN204201 owl:Class HP:0001397 biolink:NamedThing Hepatic steatosis Steatosis is a term used to denote lipid accumulation within hepatocytes. tmpaxzxjjyw_mondo_relaxed.owl Steatosis|Fatty liver|Fatty infiltration of liver|Liver steatosis SNOMEDCT_US:442191002|SNOMEDCT_US:197321007|MSH:D005234|UMLS:C2711227 Although steatosis is the hallmark of the fatty liver disease, it is not a specific feature because it can be seen as part of other disease processes, such as drug injury, Wilson disease, or hepatitis C virus infection (especially genotype-3). Involvement of less than 5% of the hepatocytes by steatosis is considered clinically insignificant and within reference range. Based on the morphologic appearance and the size of the lipid droplets within the cytoplasm of the hepatocytes, steatosis is characterized as macrovesicular or microvesicular. Macrovesicular steatosis is characterized by large lipid droplets occupying the cytoplasm, displacing the nucleus to the periphery (large droplet macrovesicular steatosis) or multiple small lipid droplets of variable size occupying the cytoplasm with the nucleus maintaining its central location (small droplet macrovesicular steatosis). Microvesicular steatosis is characterized by innumerable tiny, relatively uniform lipid vacuoles that result in a bubbly appearance of the hepatocytes. HP:0200121|HP:0002252 human_phenotype owl:Class HP:0006561 biolink:NamedThing Lipid accumulation in hepatocytes tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837257 human_phenotype owl:Class MONDO:0010868 biolink:NamedThing rippling muscle disease 1 tmpaxzxjjyw_mondo_relaxed.owl rippling muscle disease, 1|RMD1|rippling muscle disease 1 GARD:0009165|Orphanet:97238|OMIM:600332|DOID:0070308 owl:Class MONDO:0019766 biolink:NamedThing X-linked intellectual disability, Porteous type tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206701|Orphanet:93945 owl:Class MONDO:0016547 biolink:NamedThing Beckwith-Wiedemann syndrome due to NSD1 mutation tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.3|Orphanet:238613|OMIM:130650|UMLS:CN201629 owl:Class MONDO:0007356 biolink:NamedThing Lynch syndrome 1 Any Lynch syndrome in which the cause of the disease is a mutation in the MSH2 gene. tmpaxzxjjyw_mondo_relaxed.owl familial non-polyposis colon cancer type 1|colon cancer, familial nonpolyposis, type 1|Lynch syndrome 2|Lynch syndrome type 1|Lynch syndrome 1|hereditary nonpolyposis colorectal cancer type 1|COCA1|HNPCC1|Lynch 1 syndrome|LYNCH syndrome I|colorectal cancer, hereditary nonpolyposis, type 1|Hereditary non-polyposis colon cancer type 1 MESH:C537261|Orphanet:144|OMIM:120435|DOID:0070271 owl:Class MONDO:0020411 biolink:NamedThing aorto-left ventricular tunnel tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99071|ICD10:Q20.8 owl:Class MONDO:0018082 biolink:NamedThing aorto-ventricular tunnel Aorto-ventricular tunnel is a congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle. tmpaxzxjjyw_mondo_relaxed.owl aorto-ventricular tunnel|aorto-ventricular tunnel (disease) aorto-ventricular tunnel (disease) UMLS:CN225932|Orphanet:3400|HP:0011627|ICD10:Q20.8 owl:Class MONDO:0000409 biolink:NamedThing chorioamnionitis A morphologic finding indicating inflammation of the fetal sac membranes. It is characterized by neutrophilic infiltration of the amnion and chorion. tmpaxzxjjyw_mondo_relaxed.owl intra-amniotic infection|fetal membrane inflammation|inflammation of fetal membrane NCIT:C26720|MESH:D002821|SCTID:11612004|DOID:0050697 owl:Class MONDO:0060641 biolink:NamedThing neurodevelopmental disorder with or without seizures and gait abnormalities tmpaxzxjjyw_mondo_relaxed.owl NEDSGA|neurodevelopmental disorder with or without seizures and gait abnormalities UMLS:CN800195|OMIM:617864 owl:Class MONDO:0010068 biolink:NamedThing spondyloepimetaphyseal dysplasia, sponastrime type A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation. tmpaxzxjjyw_mondo_relaxed.owl sponastrime dysplasia|short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation|spondylar and nasal alterations-striated metaphyses syndrome|Sponastrime dysplasia|spondyloepimetaphyseal dysplasia Sponastrime type|spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia|short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation|spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia|spondylar and nasal alterations with striated metaphyses|spondyloepimetaphyseal dysplasia, Sponastrime type|spondyloepimetaphyseal dysplasia, sponastrime type ICD9:756.9|OMIM:271510|NCIT:C129031|MESH:C535786|Orphanet:93357|GARD:0004970|DOID:5684|SCTID:389161008|ICD10:Q77.7 https://rarediseases.info.nih.gov/diseases/4970/spondyloepimetaphyseal-dysplasia-sponastrime-type owl:Class MONDO:0030990 biolink:NamedThing Kohlschutter-Tonz syndrome-like tmpaxzxjjyw_mondo_relaxed.owl KTZSL OMIM:619229 owl:Class HGNC:28986 biolink:NamedThing ZNF592 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017292 biolink:NamedThing well-differentiated fetal adenocarcinoma of the lung Well-differentiated fetal adenocarcinoma (WDFA) of the lung is a rare, primary, low-grade, bronchopulmonary neoplasm characterized by a well-circumscribed, usually large, pulmonary mass that is histologically composed of glycogen-rich neoplastic glands and tubules that resemble fetal lungs at 10 to 16 weeks of gestation and benign adjacent stroma. It typically presents with chest pain, cough, dyspnea, hemoptysis and/or generalized, non-specific symptoms, such as night sweats, lethargy, poor appetite and weight loss. tmpaxzxjjyw_mondo_relaxed.owl pulmonary adenocarcinoma of fetal type|WDFA|well-differentiated fetal lung adenocarcinoma|fetal lung adenocarcinoma|pulmonary endodermal tumor resembling fetal lung|fetal adenocarcinoma UMLS:C1708045|ICDO:8333/3|ICD10:C34.3|UMLS:CN202865|NCIT:C45509|ICD10:C34.1|ICD10:C34.2|ICD10:C34.8|Orphanet:284395|UMLS:C1266047 owl:Class MONDO:0007359 biolink:NamedThing commissural lip pits tmpaxzxjjyw_mondo_relaxed.owl commissural lip pits OMIM:120500|SCTID:109550008 owl:Class HGNC:28178 biolink:NamedThing CCDC115 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013744 biolink:NamedThing cataract 37 A cataract that has material basis in variation in the region 12q24.2-q24.3. tmpaxzxjjyw_mondo_relaxed.owl CTRCT37|cataract 37|cataract, congenital, cerulean type, 5|CCA5|cataract type 37|congenital cataract cerulean type 5 UMLS:C3280758|DOID:0110252|ICD10:Q12.0|OMIM:614422|Orphanet:98989 owl:Class MONDO:0007594 biolink:NamedThing factor 5 excess with spontaneous thrombosis tmpaxzxjjyw_mondo_relaxed.owl Proaccelerin Excess|thrombophilia with elevated Factor 5|factor V excess with spontaneous thrombosis OMIM:134400|UMLS:C1851378|MESH:C565026 owl:Class MONDO:0003349 biolink:NamedThing central nervous system leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the central nervous system. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl central nervous system leiomyosarcoma|CNS leiomyosarcoma|leiomyosarcoma of central nervous system|leiomyosarcoma of the central nervous system|leiomyosarcoma of CNS|leiomyosarcoma of the CNS NCIT:C6999|DOID:5254|UMLS:C1334385 owl:Class MONDO:0010902 biolink:NamedThing spondyloepiphyseal dysplasia, Reardon type Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia with atlantoaxial instability UMLS:C1833603|ICD10:Q77.7|MESH:C563472|SCTID:718764004|Orphanet:163662|OMIM:600561 owl:Class UBERON:0004232 biolink:NamedThing lymphatic vessel smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010907 biolink:NamedThing familial hypertryptophanemia Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria. tmpaxzxjjyw_mondo_relaxed.owl HYPTRP|hypertryptophanemia, familial|hypertryptophanemia|familial hypertryptophanemia UMLS:C1833562|UMLS:C2931837|SCTID:721838005|OMIM:600627|ICD10:E70.8|MESH:C538393|GARD:0002871|DOID:0111703|Orphanet:2224 https://rarediseases.info.nih.gov/diseases/2871/hypertryptophanemia owl:Class MONDO:0017350 biolink:NamedThing inborn disorder of tryptophan metabolism An acquired metabolic disease that is has its basis in the disruption of tryptophan metabolic process. tmpaxzxjjyw_mondo_relaxed.owl inborn error of tryptophan metabolic process|inborn tryptophan metabolic process disorder|rare inborn error of tryptophan metabolic process|disorder of tryptophan metabolism SCTID:5181007|ICD10:E70.8|Orphanet:289829|UMLS:CN203012|ICD9:270.2 owl:Class MONDO:0021538 biolink:NamedThing verrucous carcinoma of oral cavity A verrucous carcinoma that involves the oral cavity. tmpaxzxjjyw_mondo_relaxed.owl oral cavity verrucous carcinoma|verrucous carcinoma of the mouth|mouth verrucous carcinoma|oral cavity verrucous cancer|verrucous carcinoma of the oral cavity|verrucous carcinoma of mouth NCIT:C8174|SCTID:403889000|UMLS:C0280306 owl:Class MONDO:0008425 biolink:NamedThing omphalocele syndrome, Shprintzen-Goldberg type Shprintzen-Goldberg omphalocele syndrome is a very rare inherited malformation syndrome characterized by omphalocele, scoliosis, mild dysmorphic features (downslanted palpebral fissures, s-shaped eyelids and thin upper lip), laryngeal and pharyngeal hypoplasia and learning disabilities. tmpaxzxjjyw_mondo_relaxed.owl omphalocele with hypoplasia of pharynx and larynx, learning disability, dysmorphic facies, and scoliosis|omphalocele, laryngeal and pharyngeal hypoplasia, learning disabilities, dysmorphic facies and spinal anomalies|Shprintzen omphalocele syndrome|Shprintzen-Goldberg omphalocele syndrome|pharynx and larynx hypoplasia with omphalocele|laryngeal and pharyngeal hypoplasia with omphalocele SCTID:716230005|OMIM:182210|Orphanet:3164|GARD:0009850|MESH:C537329|ICD10:Q79.2|UMLS:C1866958 owl:Class HGNC:29284 biolink:NamedThing DIP2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010098 biolink:NamedThing taurodontism Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome. tmpaxzxjjyw_mondo_relaxed.owl taurodontism|taurodontism (disease)|Bull teeth|large pulp chambers in the molars taurodontism (disease) Orphanet:3289|GARD:0005119|ICD10:K00.2|MESH:C536946|SCTID:51744007|OMIM:272700|UMLS:C0266039|HP:0000679 owl:Class MONDO:0030118 biolink:NamedThing silver-russell syndrome 4 tmpaxzxjjyw_mondo_relaxed.owl silver-russell syndrome 4|SILVER-RUSSELL SYNDROME 4|SRS4 OMIM:618907 owl:Class PATO:0002287 biolink:NamedThing increased elasticity An elasticity which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12873 biolink:NamedThing ZIC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010188 biolink:NamedThing protuberance tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011624 biolink:NamedThing transaldolase deficiency Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities. tmpaxzxjjyw_mondo_relaxed.owl TALDO deficiency|Taldo deficiency|transaldolase deficiency|Eyaid syndrome OMIM:606003|MESH:C563207|SCTID:124252008|GARD:0010445|UMLS:C1291329|Orphanet:101028|ICD10:E74.8|ICD9:277.6 https://rarediseases.info.nih.gov/diseases/10445/transaldolase-deficiency owl:Class MONDO:0014503 biolink:NamedThing autosomal recessive spinocerebellar ataxia 17 Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive type 17|autosomal recessive cerebellar ataxia due to CWF19L1 deficiency|spinocerebellar ataxia autosomal recessive type 17|autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1|autosomal recessive spinocerebellar ataxia type 17|CWF19L1 autosomal recessive congenital cerebellar ataxia|spinocerebellar ataxia, autosomal recessive 17|SCAR17 Orphanet:453521|OMIM:616127|UMLS:C4015301|DOID:0080064|ICD10:G11.1 owl:Class MONDO:0033123 biolink:NamedThing exudative vitreoretinopathy 7 tmpaxzxjjyw_mondo_relaxed.owl exudative vitreoretinopathy 7|EVR7 OMIM:617572|DOID:0080264|Orphanet:891|UMLS:CN321863 owl:Class MONDO:0015828 biolink:NamedThing uterovaginal malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:180062 owl:Class MONDO:0020585 biolink:NamedThing anemia due to erythrocyte enzyme disorder Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis. tmpaxzxjjyw_mondo_relaxed.owl anemia due to erythrocyte enzyme disorder UMLS:C4329304|NCIT:C131630 owl:Class NCBITaxon:140713 biolink:NamedThing Tunga tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:1000492 biolink:NamedThing mesothelial cell of parietal pleura A mesothelial cell that is part of the parietal pleura. tmpaxzxjjyw_mondo_relaxed.owl FMA:86738 cell owl:Class MONDO:0016673 biolink:NamedThing localized junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH) characterized by localized blistering, and dystrophic or absent nails. tmpaxzxjjyw_mondo_relaxed.owl JEB-nH loc Orphanet:251393|OMIM:226650|ICD10:Q81.8|GARD:0012923|UMLS:CN201914 https://rarediseases.info.nih.gov/diseases/12923/localized-junctional-epidermolysis-bullosa-non-herlitz-type owl:Class ENVO:01001678 biolink:NamedThing fluid layer A layer which is composed primarily of some fluid. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012810 biolink:NamedThing aneurysm, intracranial berry, 7 tmpaxzxjjyw_mondo_relaxed.owl aneurysm, intracranial BERRY, 7|ANIB7 OMIM:612161|UMLS:C2677337|MESH:C567406 owl:Class MONDO:0007874 biolink:NamedThing trichorhinophalangeal syndrome type II Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl TRPS 2|trichorhinophalangeal syndrome, type 2|Langer Giedion syndrome|trichorhinophalangeal dysplasia type II|monosomy 8q24.1|Langer-Giedion syndrome|Giedion-Langer syndrome|trichorhinophalangeal syndrome type 2|deletion 8q24.1|trichorhinophalangeal syndrome, type II|chromosome 8Q24.1 deletion syndrome|TRPS2 UMLS:C0023003|NCIT:C75118|MedDRA:10050638|SCTID:41069008|ICD9:759.89|MESH:D015826|DOID:4998|GARD:0007801|ICD10:Q87.8|OMIM:150230|Orphanet:502 owl:Class MONDO:0008493 biolink:NamedThing overhydrated hereditary stomatocytosis Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. tmpaxzxjjyw_mondo_relaxed.owl Potassium sodium disorder of erythrocyte|OHST|Potassium-sodium disorder of erythrocyte|overhydrated hereditary stomatocytosis|OHS|stomatocytosis I|stomatocytosis 1|OVERHYDRATED hereditary stomatocytosis MESH:C566111|UMLS:C1861455|SCTID:722125003|ICD10:D58.8|DOID:0111562|GARD:0004183|Orphanet:3203|OMIM:185000 owl:Class MONDO:0016237 biolink:NamedThing diffuse neonatal hemangiomatosis Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges. tmpaxzxjjyw_mondo_relaxed.owl GARD:0001861|ICD10:Q82.8|Orphanet:2123|SCTID:254782003|UMLS:C0474965 https://rarediseases.info.nih.gov/diseases/1861/diffuse-neonatal-hemangiomatosis owl:Class MONDO:0020302 biolink:NamedThing Angelman syndrome due to maternal 15q11q13 deletion tmpaxzxjjyw_mondo_relaxed.owl Angelman syndrome due to maternal monosomy 15q11q13 Orphanet:98794|ICD10:Q93.5|UMLS:CN207116 owl:Class OBO:CHR_9606-chr7p2 biolink:NamedThing 7p2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 20900000 0 hg38 owl:Class MONDO:0016825 biolink:NamedThing mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. tmpaxzxjjyw_mondo_relaxed.owl MMLA|mitochondrial myopathy with lactic acidosis|metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness|mitochondrial myopathy-lactic acidosis-hearing loss syndrome ICD10:G71.3|OMIM:251950|MESH:C537476|GARD:0003682|Orphanet:2597 https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-with-lactic-acidosis owl:Class HGNC:9208 biolink:NamedThing POR tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10882 biolink:NamedThing SIM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0004921 biolink:NamedThing Abnormal magnesium concentration An abnormality of magnesium ion homeostasis. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of magnesium homeostasis|Abnormal Mg concentration|Abnormal magnesium metabolism UMLS:C4020826|UMLS:C4025274 HP:0008274 human_phenotype owl:Class HP:0010927 biolink:NamedThing Abnormal blood inorganic cation concentration An abnormality of divalent inorganic cation homeostasis. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of divalent inorganic cation homeostasis UMLS:C4023648 peter 2011-01-06T07:47:18Z human_phenotype owl:Class PATO:0001593 biolink:NamedThing decreased curvature A curvature which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013199 biolink:NamedThing tuberous sclerosis 2 Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene). tmpaxzxjjyw_mondo_relaxed.owl tuberous sclerosis type 2|tuberous sclerosis 2|tuberous sclerosis, type 2|TSC2|TSC2 Angiomyolipomas, renal, modifier of NCIT:C75331|OMIM:613254|GARD:0005381|DOID:0080325|OMIM:191100|Orphanet:805 owl:Class OIO:Subset biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014994 biolink:NamedThing global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies tmpaxzxjjyw_mondo_relaxed.owl global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies|GDACCF|global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies; GDACCF OMIM:617260|UMLS:C4310644 owl:Class HGNC:12405 biolink:NamedThing TTR tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004888 biolink:NamedThing right lung hilus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004886 biolink:NamedThing lung hilus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009069 biolink:NamedThing serine family amino acid metabolic process The chemical reactions and pathways involving amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. tmpaxzxjjyw_mondo_relaxed.owl serine family amino acid metabolism owl:Class UBERON:0003505 biolink:NamedThing trachea blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1857 biolink:NamedThing CENPF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0600024 biolink:NamedThing familial idiopathic inflammatory myopathy An instance of myositis that is caused by an inherited genomic modification in an individual, and has an unknown cause. tmpaxzxjjyw_mondo_relaxed.owl familial idiopathic myositis OMIM:160750|MESH:C000598744 http://orcid.org/0000-0002-5460-8025 owl:Class GO:0009064 biolink:NamedThing glutamine family amino acid metabolic process The chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. tmpaxzxjjyw_mondo_relaxed.owl glutamine family amino acid metabolism owl:Class MONDO:0012606 biolink:NamedThing mycobacterium tuberculosis, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl mycobacterium tuberculosis, susceptibility to, 2|Mycobacterium tuberculosis, susceptibility to, type 2|MTBS2 OMIM:611046 owl:Class MONDO:0011261 biolink:NamedThing spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation|spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability|spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome MESH:C566515|Orphanet:163649|ICD10:Q77.7|SCTID:718766002|OMIM:602611 owl:Class HGNC:20788 biolink:NamedThing RHBDF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007687 biolink:NamedThing graying of hair, precocious tmpaxzxjjyw_mondo_relaxed.owl White hair, premature|graying of hair, precocious OMIM:139100|UMLS:C1841809|MESH:C564209 owl:Class CHEBI:38700 biolink:NamedThing organic sodium salt tmpaxzxjjyw_mondo_relaxed.owl organic sodium salts|organic sodium salt owl:Class UBERON:0015477 biolink:NamedThing axillary fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019441 biolink:NamedThing ATTRV122I amyloidosis Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein. tmpaxzxjjyw_mondo_relaxed.owl ATTRV122I-related amyloidosis|TTR-related amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ATTR cardiomyopathy|TTR-related cardiac amyloidosis|transthyretin-related familial amyloid cardiomyopathy ICD10:E85.4+|OMIM:105210|ICD10:I43.1*|SCTID:715655000|Orphanet:85451 owl:Class MONDO:0007579 biolink:NamedThing esterase C tmpaxzxjjyw_mondo_relaxed.owl esterase type C|ESC|esterase C OMIM:133270 Editor note: consider obsoleting owl:Class MONDO:0003962 biolink:NamedThing Froelich syndrome Froelich syndrome is characterized by obesity and hypogonadism due to a hypothalamic-pituitary disorder. The hypothalamus is a part of the brain where certain functions such as sleep cycles and body temperature are regulated. The pituitary is a gland that makes hormones that affect growth and the functions of other glands in the body. Froehlich syndrome is acquired(i.e., not thought to be inherited or genetic). This syndrome appears to affect males more commonly. The term 'Froelich syndrome' is rarely used today. tmpaxzxjjyw_mondo_relaxed.owl Frohlich syndrome|Launois-Cleret syndrome|adiposogenital syndrome|Babinski-Froelich syndrome|dystrophia Adiposogenitalis|adiposogenital dystrophy|Froehlich syndrome|sexual infantilism|Frohlich's syndrome|Froelich's adiposity|Frolich's syndrome|Fröhlich syndrome|Adiposodysgenesis|Froelich's syndrome|hypothalamic infantilism-obesity|Froehlich's syndrome ICD10:E23.6|SCTID:62999006|GARD:0006463|MESH:D007027|NCIT:C34625|ICD9:253.8|DOID:6676 https://rarediseases.info.nih.gov/diseases/6463/froelich-syndrome owl:Class MONDO:0020792 biolink:NamedThing dwarfism with tall vertebrae tmpaxzxjjyw_mondo_relaxed.owl OMIM:126950 owl:Class MONDO:0017065 biolink:NamedThing lumbosacral spina bifida aperta tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202424|Orphanet:268388 owl:Class HP:0002344 biolink:NamedThing Progressive neurologic deterioration tmpaxzxjjyw_mondo_relaxed.owl Neurologic deterioration, progressive|Progressive mental deterioration|Neurologic deterioration|Worsening neurological symptoms|Progressive neurodegeneration UMLS:C1854838 human_phenotype owl:Class MONDO:0003863 biolink:NamedThing malignant melanocytic neoplasm of the peripheral nerve sheath A rare variant of malignant peripheral nerve sheath tumor. It is characterized by the presence of malignant cells that contain melanin. tmpaxzxjjyw_mondo_relaxed.owl malignant melanotic peripheral nerve sheath tumor|melanocytic MPNST|melanotic malignant nerve sheath tumor|melanotic malignant peripheral nerve sheath tumor (morphologic abnormality)|melanotic malignant peripheral nerve sheath tumour|melanotic malignant peripheral nerve sheath tumor|malignant melanocytic peripheral nerve sheath tumor|malignant melanocytic neoplasm of the peripheral nerve sheath|malignant melanocytic neoplasm of peripheral nerve sheath DOID:6345|UMLS:C0474847|SCTID:404039004|NCIT:C4748|ICD9:171.9 owl:Class MONDO:0012093 biolink:NamedThing prostate cancer, hereditary, 3 tmpaxzxjjyw_mondo_relaxed.owl prostate cancer, hereditary, 3|HPC3|prostate cancer, hereditary, type 3 OMIM:608656|MESH:C563883|UMLS:C1837595 owl:Class HP:0011024 biolink:NamedThing Abnormality of the gastrointestinal tract An abnormality of the gastrointestinal tract. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the GI tract|Abnormality of the gastrointestinal tract|Gastrointestinal disease|Digestive system disease UMLS:C0017178|SNOMEDCT_US:25374005|UMLS:C4023588|MSH:D004066|UMLS:C0012242|SNOMEDCT_US:119292006|SNOMEDCT_US:53619000|MSH:D005767 peter 2011-03-01T07:52:06Z human_phenotype owl:Class MONDO:0003300 biolink:NamedThing appendix leiomyoma A well-circumscribed benign smooth muscle neoplasm arising from the appendix. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of appendix|leiomyoma of vermiform appendix|appendix leiomyoma|appendiceal leiomyoma|vermiform appendix leiomyoma|leiomyoma of the appendix UMLS:C1332327|DOID:5146|NCIT:C5514 owl:Class MONDO:0005786 biolink:NamedThing Hepadnaviridae infectious disease Virus diseases caused by the hepadnaviridae. tmpaxzxjjyw_mondo_relaxed.owl Hepadnaviridae caused disease or disorder|Hepadnaviridae disease or disorder MESH:D018347|EFO:0007301|UMLS:C0206746 owl:Class MONDO:0044638 biolink:NamedThing hypopharynx squamous cell carcinoma A squamous cell carcinoma that involves the hypopharynx. tmpaxzxjjyw_mondo_relaxed.owl hypopharyngeal epidermoid carcinoma|hypopharyngeal throat squamous cell cancer|epidermoid carcinoma of the hypopharynx|squamous cell carcinoma of hypopharynx|squamous cell carcinoma of the hypopharynx|hypopharyngeal squamous cell carcinoma|epidermoid carcinoma of hypopharynx ONCOTREE:HPHSC|Orphanet:494547|NCIT:C4043|EFO:1001960 owl:Class UBERON:0014777 biolink:NamedThing spinal neuromere tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:8410045 biolink:NamedThing artery of appendix tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012364 biolink:NamedThing dilated cardiomyopathy 1Q A dilated cardiomyopathy that has material basis in variation in the chromosome region 7q22.3-q31.1. tmpaxzxjjyw_mondo_relaxed.owl dilated cardiomyopathy type 1Q|cardiomyopathy, dilated, 1Q|CMD1Q UMLS:C1835926|DOID:0110442|MESH:C563688|OMIM:609915|ICD10:I42.0 owl:Class UBERON:0000006 biolink:NamedThing islet of Langerhans tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:15734 biolink:NamedThing primary alcohol A primary alcohol is a compound in which a hydroxy group, -OH, is attached to a saturated carbon atom which has either three hydrogen atoms attached to it or only one other carbon atom and two hydrogen atoms attached to it. tmpaxzxjjyw_mondo_relaxed.owl Primary alcohol|primary alcohols|a primary alcohol|1-Alcohol owl:Class SO:0000185 biolink:NamedThing primary_transcript A transcript that in its initial state requires modification to be functional. tmpaxzxjjyw_mondo_relaxed.owl primary transcript|INSDC_feature:prim_transcript|INSDC_feature:precursor_RNA|precursor RNA owl:Class MONDO:0008534 biolink:NamedThing generalized essential telangiectasia tmpaxzxjjyw_mondo_relaxed.owl telangiectasia, generalized essential|Hbt|GET|telangiectasia, hereditary benign Orphanet:280774|UMLS:C0473555|SCTID:238763007|OMIM:187260 owl:Class MONDO:0015281 biolink:NamedThing atrial standstill Atrial standstill is a rare cardiac rhythm disease with a few familial and sporadic cases described to date that is characterized by a transient or permanent absence of electrical and mechanical atrial activity. Electrocardiographic findings include bradycardia, ectopic supraventricular rhythms, lack of atrial excitability and absent P waves. tmpaxzxjjyw_mondo_relaxed.owl atrial cardiomyopathy with heart block SCTID:450919004|Orphanet:1344|OMIM:615745|ICD9:426.6|UMLS:CN199216|ICD10:I45.5|OMIM:108770 owl:Class NCBITaxon:147571 biolink:NamedThing Piedraiaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:134362 biolink:NamedThing Capnodiales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013932 biolink:NamedThing peroxisome biogenesis disorder 5A (Zellweger) tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder 5A (Zellweger)|PBD5A|peroxisome biogenesis disorder, complementation group 5|peroxisome biogenesis disorder, complementation group 10|peroxisome biogenesis disorder, complementation group F UMLS:C3553940|NCIT:C155756|DOID:0080480|OMIM:614866 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0100260 biolink:NamedThing peroxisome biogenesis disorder due to PEX2 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene. tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder due to PEX2 defect|PEX2 related Zellweger spectrum disorder http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0007185 biolink:NamedThing Banki syndrome Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965. tmpaxzxjjyw_mondo_relaxed.owl Banki syndrome|fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis) GARD:0000813|UMLS:C1862319|OMIM:109300|Orphanet:1228|ICD10:Q68.1|MESH:C566228|SCTID:733093004 https://rarediseases.info.nih.gov/diseases/813/banki-syndrome owl:Class MONDO:0011943 biolink:NamedThing systemic lupus erythematosus with nephritis, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl systemic lupus erythematosus with nephritis, susceptibility to, 2|SLEN2 OMIM:607966 owl:Class MONDO:0011953 biolink:NamedThing familial acute necrotizing encephalopathy Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant acute necrotizing encephalopathy|encephalopathy, acute necrotizing, susceptibility to|encephalopathy, acute, infection-induced, susceptibility to, 3|encephalopathy, acute, infection-induced, susceptibility to, type 3|susceptibility to acute necrotizing encephalopathy|susceptibility to acute infection-induced encephalopathy-3|acute necrotizing encephalopathy type 1|susceptibility to infection-induced acute encephalopathy 3|IIAE3|ADANE|infection-induced acute encephalopathy 3|Postinfectious acute necrotizing hemorrhagic encephalopathy|recurrent acute necrotizing encephalopathy|ANE1 SCTID:723359002|Orphanet:88619|GARD:0013232|UMLS:C4509836|OMIM:608033 owl:Class HP:0032894 biolink:NamedThing Seizure precipitated by febrile infection Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. tmpaxzxjjyw_mondo_relaxed.owl Fever induced seizure Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. peter human_phenotype owl:Class HP:0032892 biolink:NamedThing Infection-related seizure Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. tmpaxzxjjyw_mondo_relaxed.owl This includes seizures in the context of febrile or afebrile infection. peter human_phenotype owl:Class MONDO:0015520 biolink:NamedThing late infantile CACH syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIM:603896|UMLS:CN199659|Orphanet:157716|ICD10:E75.2 owl:Class CHEBI:36338 biolink:NamedThing lepton Lepton is a fermion that does not experience the strong force (strong interaction). The term is derived from the Greek lambdaepsilonpitauomicronsigma (small, thin). tmpaxzxjjyw_mondo_relaxed.owl leptons owl:Class UBERON:0007521 biolink:NamedThing smooth muscle sphincter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008716 biolink:NamedThing hilum of kidney tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044203 biolink:NamedThing foveal hypoplasia tmpaxzxjjyw_mondo_relaxed.owl FVH OMIMPS:136520 owl:Class ECTO:9001701 biolink:NamedThing exposure to reagent An exposure to reagent. tmpaxzxjjyw_mondo_relaxed.owl exposure to reagent owl:Class MONDO:0009440 biolink:NamedThing ichthyosiform erythroderma, corneal involvement, and hearing loss tmpaxzxjjyw_mondo_relaxed.owl Desmons syndrome|ichthyosiform erythroderma, corneal involvement, deafness|ichthyosiform erythroderma, corneal involvement, and deafness|KID syndrome, autosomal recessive|keratitis-ichthyosis-deafness syndrome, autosomal recessive OMIM:242150|MESH:C537363|Orphanet:477|UMLS:C1275089|SCTID:403780007|GARD:0002946 https://github.com/monarch-initiative/mondo/issues/551 owl:Class MONDO:0017719 biolink:NamedThing gangliosidosis A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:309144|ICD10:E75.0|UMLS:C0017083|ICD10:E75.1|GARD:0012510|ICD10:E75.10|SCTID:50967008|DOID:2368 owl:Class MONDO:0009508 biolink:NamedThing Lambotte syndrome tmpaxzxjjyw_mondo_relaxed.owl Lambotte syndrome|microcephaly, holoprosencephaly, and intrauterine Growth retardation OMIM:245552|MESH:C537549|UMLS:C1855550|GARD:0008470 owl:Class MONDO:0013113 biolink:NamedThing metaphyseal anadysplasia 2 Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene. tmpaxzxjjyw_mondo_relaxed.owl metaphyseal anadysplasia caused by mutation in MMP9|MMP9 metaphyseal anadysplasia|metaphyseal anadysplasia 2|metaphyseal anadysplasia type 2|MANDP2 OMIM:613073|UMLS:C2751322|Orphanet:1040|MESH:C567771 owl:Class MONDO:0015177 biolink:NamedThing metaphyseal anadysplasia Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed. tmpaxzxjjyw_mondo_relaxed.owl early-onset regressive form of metaphyseal dysplasia|Maroteaux-Verloes-Stanescu syndrome|MAD|Maroteaux Verloes Stanescu syndrome|regressive metaphyseal dysplasia ICD9:756.9|OMIM:602111|UMLS:C0432226|OMIM:613073|GARD:0003562|Orphanet:1040|ICD10:Q78.5|MESH:C537351|SCTID:254085009 https://rarediseases.info.nih.gov/diseases/3562/metaphyseal-anadysplasia owl:Class HP:0002514 biolink:NamedThing Cerebral calcification The presence of calcium deposition within brain structures. tmpaxzxjjyw_mondo_relaxed.owl Brain calcification|Intracranial calcifications|Intracerebral calcifications|Intracranial calcification|Abnormal deposits of calcium in the brain UMLS:C0270685|SNOMEDCT_US:17944005 This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. HP:0002502|HP:0005806|HP:0006848 human_phenotype owl:Class MONDO:0020055 biolink:NamedThing autosomal uniparental disomy tmpaxzxjjyw_mondo_relaxed.owl 2022-04-01 Orphanet:98152|UMLS:CN229262|ICD10:Q99.8 Reason: grouping class. Term to consider: MONDO:0700086 MONDO:0700086 owl:Class PATO:0002255 biolink:NamedThing grooved Texture quality inhering in a bearer by virtue of the bearer's being marked with one or more channels. tmpaxzxjjyw_mondo_relaxed.owl channeled|creased owl:Class PATO:0000150 biolink:NamedThing texture A morphologic quality inhering in a bearer by virtue of the bearer's relative size, organization and distribution of its surface elements or the representation or invention of the appearance of its surface; visual and tactile surface characteristics. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015391 biolink:NamedThing nasopharyngeal teratoma A teratoma that involves the nasopharynx. tmpaxzxjjyw_mondo_relaxed.owl teratoma of the nasopharynx|nasopharynx teratoma UMLS:C4531264|ICD10:D10.6|Orphanet:141107 owl:Class MONDO:0024414 biolink:NamedThing anaerobic cellulitis tmpaxzxjjyw_mondo_relaxed.owl anaerobic cellulitis ICD9:041.84|ICD9:682.9|UMLS:C0241828|SCTID:238401006 owl:Class GO:0045229 biolink:NamedThing external encapsulating structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of external structures that lie outside the plasma membrane and surround the entire cell. tmpaxzxjjyw_mondo_relaxed.owl external encapsulating structure organization and biogenesis|external encapsulating structure organisation owl:Class HGNC:28957 biolink:NamedThing EMC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017377 biolink:NamedThing preaxial polydactyly-colobomata-intellectual disability syndrome Preaxial polydactyly-colobomata-intellectual disability syndrome is characterised by growth retardation, intellectual deficit, preaxial polydactyly and colobomatous anomalies. It has been described in one pair of sibs (brother and sister). The mode of transmission is thought to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Pfeiffer Mayer syndrome|Pfeiffer-Mayer syndrome|short stature intellectual disability type I preaxial polydactyly with colobomatous abnormalities|short stature mental retardation type I preaxial polydactyly with colobomatous abnormalities UMLS:C2931655|SCTID:733088002|MESH:C537888|ICD10:Q87.2|GARD:0004304|Orphanet:2921 owl:Class MONDO:0010835 biolink:NamedThing pterygium colli-intellectual disability-digital anomalies syndrome Pterygium colli-intellectual disability-digital anomalies syndrome is characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl pterygium colli mental retardation digital anomalies|pterygium colli intellectual disability digital anomalies|khalifa-Graham syndrome|pterygium colli and mental retardation with facial and digital anomalies|pterygium colli and intellectual disability with facial and digital anomalies SCTID:719256004|UMLS:C1838562|OMIM:600159|Orphanet:2988|GARD:0004568|ICD10:Q87.0|MESH:C535831 owl:Class UBERON:0007270 biolink:NamedThing pelvic appendage musculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018268 biolink:NamedThing Medich giant platelet syndrome Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding. tmpaxzxjjyw_mondo_relaxed.owl Medich macrothrombocytopenia SCTID:718554005|Orphanet:370127|ICD10:D69.1|UMLS:C4305375|UMLS:CN204847 owl:Class HP:0004328 biolink:NamedThing Abnormal anterior eye segment morphology An abnormality of the anterior segment of the eyeball (which comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens). tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the anterior segment of the eyeball|Abnormal anterior segment morphology|Abnormality of the anterior segment of the eye|Abnormality of the anterior segment of the globe UMLS:C4025355 The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. peter 2008-02-27T04:23:00Z human_phenotype owl:Class MONDO:0010396 biolink:NamedThing developmental and epileptic encephalopathy, 2 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 2|CDKL5 early infantile epileptic encephalopathy|DEE2|epileptic encephalopathy, early infantile, type 2|EIEE2|early infantile epileptic encephalopathy caused by mutation in CDKL5|developmental and epileptic encephalopathy, 2|infantile spasm syndrome, X-linked 2 UMLS:C1839333|MESH:C564064|ICD10:G40.4|Orphanet:505652|DOID:0080467|OMIM:300672 owl:Class MONDO:0013167 biolink:NamedThing parkinson disease 16 tmpaxzxjjyw_mondo_relaxed.owl PARK16|Parkinson disease 16 OMIM:613164|MESH:C567726|UMLS:C2751012 owl:Class MONDO:0002186 biolink:NamedThing acute maxillary sinusitis Acute form of maxillary sinusitis. tmpaxzxjjyw_mondo_relaxed.owl acute antritis|maxillary sinusitis, acute ICD9:461.0|ICD10:J01.00|DOID:2050|UMLS:C0155804|SCTID:68272006|ICD10:J01.0 owl:Class MONDO:0022645 biolink:NamedThing cardioencephalomyopathy tmpaxzxjjyw_mondo_relaxed.owl GARD:0010673 https://rarediseases.info.nih.gov/diseases/10673/cardioencephalomyopathy owl:Class HGNC:28209 biolink:NamedThing CEP19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003579 biolink:NamedThing retinal nerve fibre layer disorder A disease that involves the nerve fiber layer of retina. tmpaxzxjjyw_mondo_relaxed.owl nerve fibre bundle defect|nerve fiber layer of retina disease|disorder of nerve fiber layer of retina|disease of nerve fiber layer of retina|retinal nerve fiber bundle deficiency|retinal nerve fiber bundle defects|disease or disorder of nerve fiber layer of retina|nerve fiber layer of retina disease or disorder SCTID:193428001|UMLS:C3665426|DOID:5678|ICD9:362.85 owl:Class HGNC:6769 biolink:NamedThing SMAD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019963 biolink:NamedThing bronchial endocrine tumor A neuroendocrine neoplasm that involves the bronchus. tmpaxzxjjyw_mondo_relaxed.owl bronchus neuroendocrine tumor, well differentiated, low or intermediate grade|bronchial neuroendocrine tumor|bronchial NET|bronchus neuroendocrine neoplasm|bronchus neuroendocrine tumor|neuroendocrine neoplasm of bronchus|bronchus NET Orphanet:97287|UMLS:CN206886|ICD10:D38.1 owl:Class HGNC:6853 biolink:NamedThing MAP3K14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005649 biolink:NamedThing appendicitis Acute inflammation of the vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl acute appendicitis|acute appendicitis with generalized peritonitis|acute appendicitis with peritoneal abscess|inflammation of vermiform appendix|vermiform appendix inflammation ICD9:541|SCTID:74400008|NCIT:C35145|UMLS:C0003615|ICD10:K37|MESH:D001064|DOID:8337|EFO:0007149|ICD9:540-543.99 owl:Class GO:0022834 biolink:NamedThing ligand-gated channel activity Enables the transmembrane transfer of a solute by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002880 biolink:NamedThing ovarian adenosarcoma A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases. tmpaxzxjjyw_mondo_relaxed.owl adenosarcoma of ovary|ovarian adenosarcoma|ovarian Müllerian adenosarcoma|ovarian mesodermal adenosarcoma|ovary adenosarcoma|ovarian mullerian adenosarcoma|ovarian Mullerian adenosarcoma DOID:4115|UMLS:C1335169|NCIT:C7317 owl:Class MONDO:0005598 biolink:NamedThing dopaminergic neuroblastoma A neuroblastoma associated with increased dopamine excretion. tmpaxzxjjyw_mondo_relaxed.owl EFO:0006391|PMID:3385588 owl:Class CHEBI:33695 biolink:NamedThing information biomacromolecule tmpaxzxjjyw_mondo_relaxed.owl information macromolecules|information biopolymers|information biomacromolecules|genetically encoded biopolymers|genetically encoded biomacromolecules|information macromolecule owl:Class MONDO:0033560 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 35 tmpaxzxjjyw_mondo_relaxed.owl MC1DN35|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 OMIM:619003 owl:Class CL:0000825 biolink:NamedThing pro-NK cell A lymphoid progenitor cell that is committed to the natural killer cell lineage, expressing CD122 (IL-15) receptor, but lacking many of the phenotypic characteristics of later stages of natural killer cell development such as expression of NK activating and inhibitory molecules. In human this cell has the phenotype CD34-positive, CD45RA-positive, CD10-positive, CD117-negative, and CD161 negative. tmpaxzxjjyw_mondo_relaxed.owl natural killer cell progenitor|pro-natural killer cell|preNK cell|NKP|null cell Most markers only described for human pro NK cells. cell owl:Class CL:0002575 biolink:NamedThing central nervous system pericyte A pericyte of the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-02T02:54:18Z cell owl:Class CL:0002489 biolink:NamedThing double negative thymocyte A thymocyte that lacks expression of CD4 and CD8. tmpaxzxjjyw_mondo_relaxed.owl double negative T cell|CD4-CD8- T cell These are precursors to mature T cells; normally, they do not circulate, but are found in the thymus and they have not undergone rearrangement of the alpha and beta T cell receptor genes. tmeehan 2010-12-06T03:03:38Z cell owl:Class MONDO:0016014 biolink:NamedThing fetal minoxidil syndrome Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available. tmpaxzxjjyw_mondo_relaxed.owl minoxidil antenatal infection|minoxidil antenatal exposure ICD10:Q86.8|ICD9:760.79|UMLS:C0432373|Orphanet:1918|GARD:0002308|SCTID:254251003 https://rarediseases.info.nih.gov/diseases/2308/fetal-minoxidil-syndrome owl:Class MONDO:0003327 biolink:NamedThing peripheral ganglioneuroblastoma A ganglioneuroblastoma arising from the peripheral nervous system. tmpaxzxjjyw_mondo_relaxed.owl PNS ganglioneuroblastoma|peripheral nervous system ganglioneuroblastoma (disease)|ganglioneuroblastoma (disease) of peripheral nervous system|peripheral nervous system ganglioneuroblastoma|peripheral ganglioneuroblastoma NCIT:C6594|DOID:5195|UMLS:C1335387 Editor note: logical definition removed as it leads to equivalency with parent owl:Class UBERON:0005316 biolink:NamedThing endocardial endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004821 biolink:NamedThing nasopharyngeal disorder A non-neoplastic or neoplastic disorder that affects the nasopharynx. Representative examples include nasopharyngitis, angiofibroma, and carcinoma. tmpaxzxjjyw_mondo_relaxed.owl nasopharynx disease|nasopharynx disease or disorder|disorder of postnasal space|disease of nasopharynx|disorder of nasopharynx|disease or disorder of nasopharynx|nasopharyngeal disorder MESH:D009302|DOID:9561|SCTID:123952009|UMLS:C0027438|NCIT:C35723 owl:Class HGNC:1633 biolink:NamedThing CD19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043291 biolink:NamedThing Rokitansky-Aschoff sinuses of the gallbladder An abnormality characterized by macroscopic or microscopic outpouchings of gallbladder mucosa into the muscle of the gallbladder wall. It may be associated with cholecystitis or gallstones. tmpaxzxjjyw_mondo_relaxed.owl Aschoff-Rokitansky sinuses|Rokitansky-Aschoff sinuses|intramural diverticulosis of the gallbladder MESH:C535869|UMLS:C0267892|GARD:0009419|SCTID:22149007 owl:Class MONDO:0001233 biolink:NamedThing orbital tenonitis tmpaxzxjjyw_mondo_relaxed.owl tenonitis UMLS:C0155259|DOID:11233|ICD9:376.04|SCTID:8976003 owl:Class NCBITaxon:43738 biolink:NamedThing Schizophora tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0035592 biolink:NamedThing establishment of protein localization to extracellular region The directed movement of a protein to a specific location within the extracellular region. tmpaxzxjjyw_mondo_relaxed.owl establishment of protein localisation in extracellular region|establishment of protein localization in extracellular region owl:Class UBERON:0009204 biolink:NamedThing medial nasal process mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008955 biolink:NamedThing cerebrooculofacioskeletal syndrome 1 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene. tmpaxzxjjyw_mondo_relaxed.owl COFS syndrome caused by mutation in ERCC6|COFS syndrome|cerebrooculofacioskeletal syndrome 1|Pena-Shokeir syndrome, type 2|COFS1|ERCC6 COFS syndrome|cerebrooculofacioskeletal syndrome type 1 Orphanet:1466|UMLS:C0220722|OMIM:214150|Orphanet:191 owl:Class MONDO:0004226 biolink:NamedThing diffuse intraductal papillomatosis tmpaxzxjjyw_mondo_relaxed.owl diffuse intraductal papillomatosis UMLS:C1377912|NCIT:C7364|DOID:7444 owl:Class MONDO:0015026 biolink:NamedThing cerebroretinal microangiopathy with calcifications and cysts 2 Any Coats plus syndrome in which the cause of the disease is a mutation in the STN1 gene. tmpaxzxjjyw_mondo_relaxed.owl cerebroretinal microangiopathy with calcifications and cysts 2|cerebroretinal microangiopathy with calcifications and cysts type 2|CRMCC2|Coats plus syndrome caused by mutation in STN1|STN1 Coats plus syndrome OMIM:617341|UMLS:CN240513 owl:Class UBERON:0015155 biolink:NamedThing conjunctival space tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011884 biolink:NamedThing hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome is an extremely rare ectodermal dysplasia syndrome characterized by hypotrichosis universalis with mild to severe scarring alopecia, acro-osteolysis, onychogryphosis, thin and tapered fingertips, periodontitis and caries leading to premature teeth loss, linear or reticular palmoplantar keratoderma and erythematous, scaling, psoriasis-like skin lesions on arms and legs. Lingua plicata and ventricular tachycardia have also been observed. tmpaxzxjjyw_mondo_relaxed.owl HOPP syndrome|hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome|hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome|hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome|Hopp syndrome|hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome OMIM:607658|ICD10:Q82.8|Orphanet:307936|UMLS:C1843285|SCTID:763658004|MESH:C564357 owl:Class UBERON:0014720 biolink:NamedThing interlobar duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054806 biolink:NamedThing microcephaly 23, primary, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl MCPH23|microcephaly 23, PRIMARY, autosomal recessive OMIM:617985|UMLS:CN244932 owl:Class MONDO:0013545 biolink:NamedThing atrial fibrillation, familial, 12 Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene. tmpaxzxjjyw_mondo_relaxed.owl familial atrial fibrillation caused by mutation in ABCC9|atrial fibrillation, familial, 12|atrial fibrillation, familial, type 12|ABCC9 familial atrial fibrillation|ATFB12 Orphanet:334|OMIM:614050|UMLS:C3279695 owl:Class MONDO:0003586 biolink:NamedThing esophagus liposarcoma A malignant adipose tissue neoplasm of the esophagus, characterized by multivacuolated lipoblasts with hyperchromatic nuclei, a solid pattern of growth, and a rich vascular network. It arises from the mucosal and submucosal layers of the lower esophagus. Clinical presentation includes progressive dysphagia, nausea, throat discomfort, and foreign body sensation. tmpaxzxjjyw_mondo_relaxed.owl esophagus liposarcoma|liposarcoma of esophagus|esophageal liposarcoma|liposarcoma of the esophagus DOID:5694|NCIT:C5705|UMLS:C1333456 owl:Class UBERON:0004753 biolink:NamedThing scapulocoracoid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005693 biolink:NamedThing cauda equina syndrome Cauda equina syndrome refers to a group of symptoms that occur when some of the nerves in the cauda equina (the bundle of nerves that spread out from the bottom of the spinal cord) become compressed and/or damaged. Signs and symptoms of this condition include pain, numbness, or tingling in the lower back and/or legs; ' foot drop '; problems with bowel and/or bladder control; and sexual dysfunction. Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or spinal stenosis. Treatment usually targets the underlying cause of the condition and often includes surgery to remove the material that is pressing on the nerves. Physical therapy, occupational therapy, and/or other services may be required if symptoms persist following surgery. tmpaxzxjjyw_mondo_relaxed.owl syndromic disease of cauda equina|cauda equina syndromic disease SCTID:192970008|EFO:0007196|ICD10:G83.4|UMLS:C0392548|NCIT:C35436|GARD:0010987|ICD9:344.6|DOID:11577 https://rarediseases.info.nih.gov/diseases/10987/cauda-equina-syndrome owl:Class UBERON:0006763 biolink:NamedThing epithelium of conjunctiva tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010304 biolink:NamedThing non-keratinized stratified squamous epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003915 biolink:NamedThing cortical thymoma A thymic epithelial neoplasm characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. The neoplastic cells are arranged around perivascular spaces and along septa. Immature T-lymphocytes are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It is a tumor of moderate malignancy. The majority of cases occur in the anterior mediastinum as Masaoka stage I, stage II, or stage III tumors. Metastatic, stage IV tumors occur less frequently. tmpaxzxjjyw_mondo_relaxed.owl thymoma type B2|polygonal cell thymoma|thymoma, cortical|cortical thymoma ICDO:8584/1|NCIT:C6888|UMLS:C1266095|DOID:6530 owl:Class HGNC:7013 biolink:NamedThing MEOX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1606 biolink:NamedThing CCR5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1980415 biolink:NamedThing Nairoviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005436 biolink:NamedThing postoperative ventricular dysfunction Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality. tmpaxzxjjyw_mondo_relaxed.owl EFO:0004889 owl:Class HGNC:13586 biolink:NamedThing FBXO7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009380 biolink:NamedThing Dubin-Johnson syndrome Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells. tmpaxzxjjyw_mondo_relaxed.owl Dubin-Johnson syndrome|DJS|hyperbilirubinemia 2|hyperbilirubinemia, Dubin-Johnson type|conjugated hyperbilirubinemia|chronic idiopathic jaundice|Dubin Johnson syndrome|hyperbilirubinemia type 2|Dubin-Sprinz disease|Sprinz-Nelson syndrome ICD10:E80.6|NCIT:C34741|GARD:0002793|DOID:12308|SCTID:44553005|Orphanet:234|UMLS:C0022350|MedDRA:10013800|OMIM:237500|MESH:D007566|GARD:0006289 owl:Class MONDO:0008213 biolink:NamedThing pectus excavatum A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax. tmpaxzxjjyw_mondo_relaxed.owl pectus excavatum|pectus excavatum (disease)|funnel chest pectus excavatum (disease) HP:0000767|SCTID:391987005|ICD9:754.81|OMIM:169300|MESH:D005660 owl:Class MONDO:0005013 biolink:NamedThing dedifferentiated chondrosarcoma An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor. tmpaxzxjjyw_mondo_relaxed.owl DDCHS|Dedifferentiated chondrosarcoma EFO:0000394|UMLS:C0862878|ONCOTREE:DDCHS|NCIT:C6476|ICDO:9243/3 owl:Class MONDO:0018864 biolink:NamedThing Kikuchi-Fujimoto disease Kikuchi-Fujimoto disease (KFD) is a benign and self-limited disorder, characterized by regional cervical lymphadenopathy with tenderness, usually accompanied with mild fever and night sweats. Less frequent symptoms include weight loss, nausea, vomiting, sore throat. tmpaxzxjjyw_mondo_relaxed.owl nosocomial Kikuchi's disease|Kikuchi disease|Kikuchi's disease|Kikuchi-Fujimoto's disease|Kikuchi necrotizing lymphadenitis|histiocytic necrotising lymphadenitis|histiocytic necrotizing lymphadenitis ICD10:I88.1|MESH:D020042|NCIT:C71719|UMLS:C0398367|GARD:0006834|Orphanet:50918|SCTID:127217009 owl:Class MONDO:0001828 biolink:NamedThing acquired color blindness Non-heritable difficulty in distinguishing colors. tmpaxzxjjyw_mondo_relaxed.owl acquired color vision deficiency|acquired color vision deficiencies|acquired color vision disorder SCTID:71676008|NCIT:C118712|ICD9:368.55|ICD10:H53.52|DOID:13912 owl:Class MONDO:0001703 biolink:NamedThing color vision disorder The absence of or defect in the perception of colors. tmpaxzxjjyw_mondo_relaxed.owl color vision deficiency|color blindness|blindness color|colour blindness|colour vision deficiency|color vision defects|color-vision disease NCIT:C3891|UMLS:CN207064|SCTID:193683001|DOID:13399|ICD10:H53.5|UMLS:C0009398|UMLS:C0242225|ICD10:H53.50|Orphanet:98658|ICD9:368.59|ICD9:368.5 owl:Class MONDO:0015623 biolink:NamedThing cavitary myiasis Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis. tmpaxzxjjyw_mondo_relaxed.owl SCTID:764811001|ICD10:B87.8|Orphanet:165958 owl:Class MONDO:0019147 biolink:NamedThing myiasis The infection of a fly larva (maggot) in human tissue, which most commonly occurs in tropical climates. Affected tissues most commonly include skin, especially if open wounds are present, nasal passages, ears, and eyes. tmpaxzxjjyw_mondo_relaxed.owl maggot infestation|myiasis, unspecified|infestation by fly larvae|infestation by maggots ICD10:B87.8|EFO:0007389|SCTID:60412004|ICD10:B87.0|ICD10:B87.3|MedDRA:10028586|ICD10:B87|ICD10:B87.9|ICD10:B87.2|MESH:D009198|UMLS:C0027030|ICD10:B87.4|ICD9:134.0|Orphanet:75110|NCIT:C128400|ICD10:B87.1|DOID:11080 owl:Class HGNC:10702 biolink:NamedThing SEC23B tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0104004 biolink:NamedThing cellular response to environmental stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an environmental stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017196 biolink:NamedThing osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome is characterized by osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, seizures and severe developmental delay. It has been described in two sibs born to consanguineous parents. tmpaxzxjjyw_mondo_relaxed.owl Al Gazali Sabrinathan Nair syndrome|osteogenesis imperfecta retinopathy seizures intellectual deficit|Al Gazali-Nair syndrome SCTID:722110003|MESH:C535617|UMLS:CN202641|GARD:0000587|Orphanet:2773|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/587/al-gazali-sabrinathan-nair-syndrome owl:Class MONDO:0009186 biolink:NamedThing epilepsy, photogenic, with spastic diplegia and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl epilepsy, photogenic, with spastic diplegia and intellectual disability|epilepsy, photogenic, with spastic diplegia and mental retardation MESH:C565587|UMLS:C1856931|OMIM:226800 owl:Class UBERON:0003122 biolink:NamedThing pharyngeal arch artery 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018361 biolink:NamedThing neonatal scleroderma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:398127|ICD10:P83.8 owl:Class NCBITaxon:694014 biolink:NamedThing Avian coronavirus tmpaxzxjjyw_mondo_relaxed.owl ACoV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2509487 biolink:NamedThing Igacovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032580 biolink:NamedThing nephrotic syndrome, type 17 tmpaxzxjjyw_mondo_relaxed.owl NEPHROTIC SYNDROME, TYPE 17|NPHS17 OMIM:618176|DOID:0080392 owl:Class MONDO:0012410 biolink:NamedThing Finnish upper limb-onset distal myopathy Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common. tmpaxzxjjyw_mondo_relaxed.owl MPD3|myopathy, distal, 3|distal myopathy type 3 SCTID:763718009|ICD10:G71.0|UMLS:C1864706|Orphanet:399086|OMIM:610099 owl:Class MONDO:0044964 biolink:NamedThing oral cavity mucoepidermoid carcinoma A mucoepidermoid carcinoma arising from the minor salivary glands in the oral cavity. It is often asymptomatic and detected during a routine dental examination. tmpaxzxjjyw_mondo_relaxed.owl oral cavity mucoepidermoid cancer|mucoepidermoid carcinoma of oral cavity|mucoepidermoid carcinoma of the oral cavity|oral cavity mucoepidermoid carcinoma UMLS:C0280309|NCIT:C8177 owl:Class MONDO:0042452 biolink:NamedThing tertiary lesion of yaws tmpaxzxjjyw_mondo_relaxed.owl tertiary lesion of yaws|tertiary stage of yaws|tertiary yaws SCTID:88037009|UMLS:C0343833 owl:Class MONDO:0007648 biolink:NamedThing hereditary diffuse gastric adenocarcinoma An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations. tmpaxzxjjyw_mondo_relaxed.owl hereditary diffuse gastric cancer|gastric cancer, familial diffuse|diffuse gastric cancer|signet ring gastric carcinoma|gastric cancer, familial diffuse, and cleft lip with or without cleft palate|hereditary diffuse cancer of stomach|familial diffuse cancer of stomach|signet cell adenocarcinoma|HDGC|FDGC|familial diffuse gastric cancer|hereditary diffuse gastric adenocarcinoma|signet ring cell gastric carcinoma|breast cancer, lobular|gastric cancer, hereditary diffuse NCIT:C43295|GARD:0010334|UMLS:C1708349|Orphanet:26106|OMIM:137215|GARD:0010900|ICD10:C16.9|SCTID:716859000|DOID:0080763 Editor note: consider renaming to be consistent with NCIT:C43295; also check GARD https://rarediseases.info.nih.gov/diseases/10900/hereditary-diffuse-gastric-cancer owl:Class CL:0002113 biolink:NamedThing B220-low CD38-negative unswitched memory B cell A B220-low CD38-negative unswitched memory B cell is a CD38-negative unswitched memory B cell that has the phenotype B220-low, CD38-negative, IgD-positive, CD138-negative, and IgG-negative. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0017218 biolink:NamedThing septopreoptic holoprosencephaly Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. tmpaxzxjjyw_mondo_relaxed.owl Septopreoptic HPE UMLS:CN202699|OMIM:157170|Orphanet:280195|OMIM:610829|OMIM:609637|ICD10:Q04.2 owl:Class MONDO:0011508 biolink:NamedThing lymphoma, non-Hodgkin, familial tmpaxzxjjyw_mondo_relaxed.owl lymphoma, non-Hodgkin, familial|non-Hodgkin lymphoma UMLS:C0024305|Orphanet:547|ICD9:202.80|SCTID:118601006|OMIM:605027 owl:Class MONDO:0019326 biolink:NamedThing phakomatosis cesiomarmorata tmpaxzxjjyw_mondo_relaxed.owl phakomatosis pigmentovascularis type 5|phakomatosis cesiomarmorata|phakomatosis caesiomarmorata SCTID:703286006|ICD10:Q85.8|Orphanet:79484|UMLS:CN205985|ICD9:759.6 owl:Class MONDO:0017318 biolink:NamedThing phakomatosis pigmentovascularis tmpaxzxjjyw_mondo_relaxed.owl port-wine stain with oculocutaneous melanosis|Phacomatosis pigmentovascularis|association of cutaneous vascular malformations and different pigmentary disorders|phakomatosis pigmentovascularis|PPv ICD9:709.09|GARD:0004312|MESH:C537894|ICD10:Q85.8|Orphanet:2875|SCTID:403545005 owl:Class MONDO:0017163 biolink:NamedThing hemolytic disease due to fetomaternal alloimmunization tmpaxzxjjyw_mondo_relaxed.owl hemolytic disease of the fetus and newborn 2022-03-01 ICD10:P55.8|ICD10:P55.1|ICD10:P55.0|Orphanet:275938|ICD10:P55.9|UMLS:CN202585 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemolytic anemia' MONDO_0003664 owl:Class MONDO:0010589 biolink:NamedThing Aarskog-Scott syndrome, X-linked Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. tmpaxzxjjyw_mondo_relaxed.owl FGD|faciodigitogenital syndrome|MRXS16, included|mental retardation, X-linked, syndromic 16|faciogenital dysplasia with attention Deficit-hyperactivity disorder|facio-digito-genital dysplasia|Aarskog-like syndrome|mental retardation, X-linked, syndromic 16, included|Aarskog disease|Aarskog Scott syndrome|Aarskog syndrome, X-linked|Aarskog-Scott syndrome|Aarskog syndrome|FGDY|faciodigitogenital syndrome, recessive|Aarskog-Scott syndrome, X-linked|faciogenital dysplasia|Scott Aarskog syndrome|AAS ICD9:759.89|MESH:C535331|SCTID:14921002|MedDRA:10067148|OMIM:100050|NCIT:C129720|GARD:0004775|ICD10:Q87.1|OMIM:305400|Orphanet:915 owl:Class ENVO:01001286 biolink:NamedThing slate dust Dust which is primarily composed of slate particles. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002812 biolink:NamedThing Coxa vara Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. tmpaxzxjjyw_mondo_relaxed.owl MSH:D060905|UMLS:C0239138|SNOMEDCT_US:74820003 The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired. human_phenotype owl:Class HP:0003367 biolink:NamedThing Abnormal femoral neck morphology An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). tmpaxzxjjyw_mondo_relaxed.owl Abnormal neck of thigh bone|Abnormality of the femoral neck UMLS:C4025621 human_phenotype owl:Class HGNC:6388 biolink:NamedThing KIF11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000979 biolink:NamedThing Purpura Purpura (from Latin: purpura, meaning "purple") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. tmpaxzxjjyw_mondo_relaxed.owl Red or purple spots on the skin|Blood spots SNOMEDCT_US:12393003|MSH:D011693|UMLS:C0034150|SNOMEDCT_US:423902002|SNOMEDCT_US:387778001 Depending on their size, purpuric lesions are traditionally classified as petechiae (pinpoint hemorrhages less than 2 mm in greatest diameter), purpura (2 mm to 1 cm) or ecchymoses (more than 1 cm). human_phenotype owl:Class MONDO:0015101 biolink:NamedThing Marin-Amat syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:101104|UMLS:CN197448|ICD10:Q07.8 owl:Class CHEBI:38179 biolink:NamedThing monocyclic heteroarene tmpaxzxjjyw_mondo_relaxed.owl monocyclic heteroarenes owl:Class UBERON:0018261 biolink:NamedThing muscular coat of digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:297308 biolink:NamedThing Ixodoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007898 biolink:NamedThing leukocyte nuclear appendages, hereditary prevalence of tmpaxzxjjyw_mondo_relaxed.owl leukocyte nuclear appendages, hereditary prevalence of UMLS:C1835405|MESH:C563626|OMIM:151500 owl:Class UBERON:0011769 biolink:NamedThing cartilaginous projection tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8786 biolink:NamedThing PDE6B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3349 biolink:NamedThing ENG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009476 biolink:NamedThing atresia of small intestine Atresia of small intestine is a special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. Atresia of small intestine is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. Atresia of small intestine may be a manifestation of cystic fibrosis. The most important cause of mortality is short bowel syndrome, encountered in 65% of cases. tmpaxzxjjyw_mondo_relaxed.owl atresia of the small intestine|apple peel syndrome|Jejunoileal atresia|congenital atresia of the small intestine|small intestinal atresia|APSB|familial apple peel jejunal atresia|jejunal atresia|intestinal atresia type IIIb|apple peel small bowel syndrome|apple-peel intestinal atresia|small intestine atresia|congenital small intestine atresia ICD10:Q41.8|GARD:0006799|GARD:0000140|UMLS:C0266172|MedDRA:10010626|ICD10:Q41.2|Orphanet:1201|MESH:C538260|ICD10:Q41.9|NCIT:C98828|ICD10:Q41.0|OMIM:243600|ICD10:Q41.1 owl:Class NCBITaxon:11083 biolink:NamedThing Powassan virus tmpaxzxjjyw_mondo_relaxed.owl Flavivirus powassan GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010515 biolink:NamedThing Meester-Loeys syndrome tmpaxzxjjyw_mondo_relaxed.owl Meester-Loeys syndrome; MRLS|Meester-Loeys syndrome|MRLS OMIM:300989|UMLS:C4310811 owl:Class NCBITaxon:2732462 biolink:NamedThing Flasuviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:619 biolink:NamedThing APOL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0036160 biolink:NamedThing melanocyte-stimulating hormone secretion The regulated release of a melanocyte-stimulating hormone, any of a group of peptide hormones that are produced by cells in the intermediate lobe of the pituitary gland, and stimulate the production of melanin to increase pigmentation. tmpaxzxjjyw_mondo_relaxed.owl MSH secretion owl:Class UBERON:0035240 biolink:NamedThing posterior wall of oropharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032904 biolink:NamedThing corneal dystrophy, Meesmann, 2 tmpaxzxjjyw_mondo_relaxed.owl MECD2|CORNEAL DYSTROPHY, MEESMANN, 2 OMIM:618767 owl:Class MONDO:0007379 biolink:NamedThing Meesmann corneal dystrophy Meesmann corneal dystrophy (MECD) is a rare form of superficial corneal dystrophy characterized by distinct tiny bubble-like, round-to-oval punctate bilateral opacities in the central corneal epithelium, and to a lesser extent in the peripheral cornea, with little impact on vision. tmpaxzxjjyw_mondo_relaxed.owl Meesman dystrophy|MECD|corneal dystrophy, juvenile epithelial of Meesmann|Meesmann corneal dystrophy|stocker-Holt dystrophy|juvenile epithelial of Meesmann corneal dystrophy|corneal dystrophy, Meesmann|corneal dystrophy, Meesmann epithelial|Meesmann corneal epithelial dystrophy|juvenile hereditary epithelial dystrophy|juvenile hereditary epithelial dystrophy of Meesmann|corneal dystrophy, juvenile epithelial, of Meesmann OMIMPS:122100|DOID:0060451|SCTID:1674008|ICD10:H18.52|ICD10:H18.5|Orphanet:98954|GARD:0009688|MESH:D053559|UMLS:C0339277|NCIT:C84795|ICD9:371.51 https://rarediseases.info.nih.gov/diseases/9688/meesmann-corneal-dystrophy owl:Class MONDO:0020835 biolink:NamedThing methemoglobinemia, alpha type tmpaxzxjjyw_mondo_relaxed.owl methemoglobinemia, alpha type OMIM:617973 owl:Class MONDO:0013824 biolink:NamedThing Joubert syndrome 17 Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene. tmpaxzxjjyw_mondo_relaxed.owl CPLANE1 Joubert syndrome|Joubert syndrome 17|JBTS17|Joubert syndrome type 17|Joubert syndrome caused by mutation in CPLANE1 OMIM:614615|DOID:0110986|UMLS:C3553264|Orphanet:475 owl:Class HGNC:29242 biolink:NamedThing SH3PXD2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03311737 biolink:NamedThing processed food product tmpaxzxjjyw_mondo_relaxed.owl SUBSET_SIREN:F11737 http://langual.org subset_siren owl:Class MONDO:0033308 biolink:NamedThing Joubert syndrome 30 tmpaxzxjjyw_mondo_relaxed.owl JBTS30|Joubert syndrome 30 DOID:0080275|Orphanet:475|OMIM:617622 owl:Class MONDO:0002808 biolink:NamedThing pancreatic serous cystadenoma A benign, non-metastasizing cystic epithelial neoplasm arising from the exocrine pancreas. It is composed of glycogen-rich epithelial cells which produce a watery fluid. Signs and symptoms include abdominal mass, abdominal pain, nausea, vomiting, and weight loss. tmpaxzxjjyw_mondo_relaxed.owl serous cystadenoma of pancreas|pancreas serous cystadenoma|pancreatic serous cystadenoma|serous cystadenoma of the pancreas|PSC|pancreatic microcystic adenoma DOID:3917|NCIT:C5712|UMLS:C1335316|ONCOTREE:PSC owl:Class GO:0090155 biolink:NamedThing negative regulation of sphingolipid biosynthetic process Any process that decreases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpaxzxjjyw_mondo_relaxed.owl negative regulation of sphingolipid biosynthesis involved in cellular sphingolipid homeostasis owl:Class MONDO:0043529 biolink:NamedThing carcinoid heart disease Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation. tmpaxzxjjyw_mondo_relaxed.owl carcinoid heart disease|heart disease, carcinoid|carcinoid heart diseases|heart diseases, carcinoid MESH:D002275|UMLS:C0007093|SCTID:36222008|EFO:1001775 owl:Class MONDO:0001577 biolink:NamedThing respiratory syncytial virus infectious disease Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children. tmpaxzxjjyw_mondo_relaxed.owl respiratory syncytial virus infection|Human respiratory syncytial virus infection|infections, Human respiratory syncytial virus SCTID:55735004|EFO:1001413|NCIT:C3354|DOID:1273|MESH:D018357|UMLS:C0035235 owl:Class MONDO:0004538 biolink:NamedThing endocervical type cervical mucinous adenocarcinoma A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix. tmpaxzxjjyw_mondo_relaxed.owl cervical adenocarcinoma, endocervical type|cervical mucinous adenocarcinoma, endocervical type NCIT:C40202|DOID:8340|UMLS:C1516421 owl:Class MONDO:0003824 biolink:NamedThing hereditary kidney oncocytoma An inherited condition characterized by the development of kidney oncocytomas which are often bilateral and multifocal. This condition may be connected to Birt-Hogg-Dube syndrome. tmpaxzxjjyw_mondo_relaxed.owl familial renal oncocytoma|hereditary renal oncocytoma|hereditary kidney oncocytoma NCIT:C8960|UMLS:C0879606|DOID:6244 owl:Class MONDO:0003825 biolink:NamedThing kidney oncocytoma A benign tumor of the kidney, characterized by the presence of large cells with abundant eosinophilic granular cytoplasm. The majority of these tumors are discovered incidentally, during work-up of other conditions. tmpaxzxjjyw_mondo_relaxed.owl renal oncocytoma|oncocytoma of the kidney|oncocytoma of kidney|kidney oncocytoma|oncocytoma kidney|renal epithelial oncocytic neoplasm|oncocytoma renal|kidney oncocytic neoplasm|renal epithelial oncocytic tumor|ROCY ONCOTREE:ROCY|DOID:6245|EFO:1000315|MESH:C537750|OMIM:553000|SCTID:254922006|NCIT:C4526|UMLS:C0346255|GARD:0008477 https://rarediseases.info.nih.gov/diseases/8477/renal-oncocytoma owl:Class MONDO:0002214 biolink:NamedThing brain germinoma A germinoma (disease) that involves the brain. tmpaxzxjjyw_mondo_relaxed.owl brain germinoma (disease)|germinoma of the brain|germinoma of brain|intracranial germinoma NCIT:C6284|UMLS:C1332606|DOID:2127 owl:Class MONDO:0003600 biolink:NamedThing cutaneous liposarcoma A malignant adipose tissue neoplasm of the skin. tmpaxzxjjyw_mondo_relaxed.owl zone of skin liposarcoma|skin liposarcoma|liposarcoma of skin|cutaneous liposarcoma|liposarcoma of zone of skin|liposarcoma of the skin DOID:5712|UMLS:C1333175|NCIT:C5615 owl:Class MONDO:0018896 biolink:NamedThing thrombotic thrombocytopenic purpura Thrombotic thrombocytopenic purpura (TTP) is an aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of congenital TTP and acquired TTP. tmpaxzxjjyw_mondo_relaxed.owl TTP|Moschcowitz disease|Moschowitz disease|Moschcowitz's syndrome NCIT:C78797|Orphanet:54057|MESH:D011697|SCTID:78129009|ICD10:M31.1|OMIM:274150|DOID:10772|MedDRA:10043648|UMLS:C0034155 owl:Class MONDO:0021663 biolink:NamedThing sarcomatoid squamous cell carcinoma A poorly differentiated squamous cell carcinoma characterized by the presence of malignant cells with spindle cell features. tmpaxzxjjyw_mondo_relaxed.owl spindle cell (sarcomatoid) squamous cell carcinoma|sarcomatoid squamous cell carcinoma|squamous cell spindle cell carcinoma|squamous cell carcinoma, sarcomatoid|epidermoid spindle cell carcinoma|squamous cell carcinoma, spindle cell ICD9:199.1|ICDO:8074/3|NCIT:C27084|SCTID:403900000 owl:Class MONDO:0015785 biolink:NamedThing Prader-Willi syndrome due to translocation tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.1|Orphanet:177907|UMLS:CN200367 owl:Class HGNC:17109 biolink:NamedThing ADAMTS17 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003373 biolink:NamedThing ectoderm of footplate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008376 biolink:NamedThing retinal venous beading tmpaxzxjjyw_mondo_relaxed.owl retinal venous beading OMIM:180080 owl:Class MONDO:0013702 biolink:NamedThing intellectual disability, autosomal recessive 27 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene. tmpaxzxjjyw_mondo_relaxed.owl MRT27|intellectual disability, autosomal recessive type 27|intellectual disability, autosomal recessive 27|mental retardation, autosomal recessive type 27|autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1|LINS1 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 27 Orphanet:88616|UMLS:C3280538|OMIM:614340 owl:Class MONDO:0005146 biolink:NamedThing post-traumatic stress disorder An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term. tmpaxzxjjyw_mondo_relaxed.owl traumatic neurosis|post-traumatic stress disorder|PTSD|combat neurosis ICD10:F43.10|DOID:2055|OMIM:608627|EFO:0001358|ICD10:F43.1|NIFSTD:birnlex_12679|SCTID:47505003|MESH:D013313|ICD9:309.81|NCIT:C3389 owl:Class MONDO:0003204 biolink:NamedThing villous adenocarcinoma An adenocarcinoma characterized by the presence of a villous architectural pattern. It may arise from a villous adenoma. tmpaxzxjjyw_mondo_relaxed.owl villous adenocarcinoma (morphologic abnormality)|villous adenocarcinoma UMLS:C0334306|DOID:4917|ICDO:8262/3|NCIT:C4142 owl:Class HGNC:8574 biolink:NamedThing PAFAH1B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014378 biolink:NamedThing primary ciliary dyskinesia 29 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene. tmpaxzxjjyw_mondo_relaxed.owl CILD29|primary ciliary dyskinesia type 29|ciliary dyskinesia, primary, type 29|ciliary dyskinesia, primary, 29|primary ciliary dyskinesia 29 without situs inversus|ciliary dyskinesia, primary, 29, without situs inversus|CCNO primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in CCNO ICD10:Q34.8|DOID:0110600|UMLS:C4014534|Orphanet:244|OMIM:615872 owl:Class MONDO:0001762 biolink:NamedThing dentine erosion A tooth erosion, non-bacterial that involves the dentine. tmpaxzxjjyw_mondo_relaxed.owl tooth erosion, non-bacterial of dentine|dentine tooth erosion, non-bacterial ICD9:521.32|DOID:13629 owl:Class MONDO:0013137 biolink:NamedThing choroidal dystrophy, central areolar 2 Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. tmpaxzxjjyw_mondo_relaxed.owl central areolar choroidal dystrophy caused by mutation in PRPH2|macular dystrophy, progressive|CACD2|choroidal dystrophy, central areolar type 2|choroidal dystrophy, central areolar 2|PRPH2 central areolar choroidal dystrophy Orphanet:75377|MESH:C567750|UMLS:C2751290|OMIM:613105 owl:Class MONDO:0001420 biolink:NamedThing trigeminal nerve neoplasm Benign and malignant neoplasms which arise from or metastasize to the trigeminal or fifth cranial nerve which provides sensory innervation to the face, oral cavity and sinuses and the muscles of mastication. Clinical features may include facial pain or sensory loss or weakness of jaw closure. tmpaxzxjjyw_mondo_relaxed.owl trigeminal nerve tumors|trigeminal nerve neoplasm (disease)|neoplasm of fifth cranial nerve|tumor of the fifth cranial nerve|neoplasm of the trigeminal nerve|tumor of trigeminal nerve|tumor of the trigeminal nerve|cranial nerve V tumors|neoplasm of trigeminal nerve|trigeminal nerve tumor|tumor of fifth cranial nerve|fifth cranial nerve tumor|trigeminal nerve neoplasms|neoplasm of the fifth cranial nerve|trigeminal nerve neoplasm|fifth cranial nerve neoplasm|neoplasms, cranial nerve V|tumors, cranial nerve V|cranial nerve V neoplasms ICD9:239.7|DOID:1201|SCTID:126971002|NCIT:C5122|UMLS:C1263897 owl:Class MONDO:0002416 biolink:NamedThing ethmoid sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the ethmoid sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of ethmoid sinus|squamous cell carcinoma of ethmoidal sinus|epidermoid carcinoma of ethmoid sinus|squamous cell carcinoma of the ethmoidal sinus|epidermoid carcinoma of the ethmoidal sinus|epidermoid carcinoma of ethmoidal sinus|ethmoid sinus epidermoid carcinoma|ethmoidal sinus squamous cell carcinoma|ethmoid sinus squamous cell carcinoma|squamous cell carcinoma of the ethmoid sinus|ethmoidal sinus epidermoid carcinoma|epidermoid carcinoma of the ethmoid sinus UMLS:C1333477|DOID:2763|SCTID:707359008|NCIT:C6065 owl:Class CL:0002020 biolink:NamedThing GlyA-positive reticulocytes A reticulocyte that is GlyA-positive. tmpaxzxjjyw_mondo_relaxed.owl Markers is associated with human cells. tmeehan 2010-04-26T11:48:25Z cell owl:Class ENVO:01001135 biolink:NamedThing desert planet A terrestrial planet which has a surface dominated by hot deserts. tmpaxzxjjyw_mondo_relaxed.owl dry planet owl:Class CL:0000226 biolink:NamedThing single nucleate cell A cell with a single nucleus. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0004491 biolink:NamedThing uterine corpus choriocarcinoma An aggressive malignant tumor arising from trophoblastic cells in the uterus during pregnancy. Approximately half of the cases develop from a complete hydatidiform mole. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. tmpaxzxjjyw_mondo_relaxed.owl body of uterus choriocarcinoma (disease)|choriocarcinoma|gestational uterine corpus choriocarcinoma|uterine corpus gestational choriocarcinoma DOID:8188|UMLS:C1336904|ONCOTREE:UCCA|NCIT:C27246 owl:Class MONDO:0006126 biolink:NamedThing cecum neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the cecum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpaxzxjjyw_mondo_relaxed.owl cecum neuroendocrine tumor G1|caecum NET G1|caecum neuroendocrine tumor, well differentiated, low grade|cecum carcinoid tumor|grade 1 neuroendocrine neoplasm of caecum|carcinoid tumor of the cecum|caecum carcinoid tumor (disease)|cecum NET G1|caecal carcinoid tumor|cecal carcinoid tumor|carcinoid tumor of cecum|caecum carcinoid tumor|caecum neuroendocrine neoplasm G1 EFO:1000154|UMLS:C0854488|NCIT:C5501 owl:Class GO:0060300 biolink:NamedThing regulation of cytokine activity Any process that modulates the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012165 biolink:NamedThing BNAR syndrome BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome. tmpaxzxjjyw_mondo_relaxed.owl bifid NOSE with or without anorectal and renal anomalies|BNAR|bifid nose with or without anorectal and renal anomalies SCTID:717940006|UMLS:C2750433|MESH:C567672|Orphanet:217266|ICD10:Q87.8|UMLS:C4303547|GARD:0010595|OMIM:608980 owl:Class MONDO:0011283 biolink:NamedThing mitochondrial DNA depletion syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|MTDPS1|mitochondrial DNA depletion syndrome 1|Mngie, tymp-related|Polip syndrome|mitochondrial DNA depletion syndrome type 1|mitochondrial DNA depletion syndrome 1 (MNGIE type)|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|myoneurogastrointestinal encephalopathy syndrome OMIM:603041|Orphanet:298|DOID:0080119 owl:Class MONDO:0020596 biolink:NamedThing mucin-producing carcinoma tmpaxzxjjyw_mondo_relaxed.owl mucin-producing carcinoma NCIT:C27825 owl:Class MONDO:0018456 biolink:NamedThing polyarticular juvenile idiopathic arthritis tmpaxzxjjyw_mondo_relaxed.owl juvenile polyarticular arthritis|juvenile polyarthritis|polyarticular JIA EFO:1002020|Orphanet:404580|SCTID:16044751000119106 owl:Class MONDO:0020399 biolink:NamedThing congenital hypoplasia of the mitral valve annulus Hypoplasia of the mitral valve annulus is a rare, congenital, mitral valve malformation characterized by hypoplastic annulus which usually appears within a complete mitral valve hypoplasia, causing mitral valve stenosis. Association with other cardiac malformation is common, including coarctation of the aorta, aortic valve stenosis, Shone complex and hypoplastic left heart syndrome. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3165203|SCTID:449270002|Orphanet:99058|ICD9:746.89|ICD10:Q23.2 owl:Class HP:0002584 biolink:NamedThing Intestinal bleeding Bleeding from the intestines. tmpaxzxjjyw_mondo_relaxed.owl Intestinal haemorrhage|Intestinal hemorrhage|Intestinal bleeding SNOMEDCT_US:712510007|UMLS:C0267373 human_phenotype owl:Class MONDO:0020444 biolink:NamedThing subaortic course of innominate vein Subaortic course of innominate vein is a rare congential anomaly of the great veins characterized by an anomalous course of the left brachiocephalic vein, passing from left to right below the aortic arch and entering the superior vena cava below the orifice of the azygos vein. Patients are frequently asymptomatic and diagnosed incidentally on imaging studies. Other cardiac malformations may be associated. tmpaxzxjjyw_mondo_relaxed.owl subaortic course of brachiocephalic vein Orphanet:99113|SCTID:766756002|ICD10:Q26.8 owl:Class MONDO:0018603 biolink:NamedThing interstitial lung disease due to SP-C deficiency tmpaxzxjjyw_mondo_relaxed.owl interstitial lung disease due to surfactant protein C deficiency Orphanet:440392|OMIM:610913|UMLS:CN237633|ICD10:J84.8 owl:Class MONDO:0005884 biolink:NamedThing opisthorchiasis Infection with flukes of the genus Opisthorchis. tmpaxzxjjyw_mondo_relaxed.owl infection due to cat liver fluke|infection by Opisthorchis|infection due to Opisthorchis (felineus)(viverrini) EFO:0007404|UMLS:C0029106|DOID:13768|ICD9:121.0|SCTID:1059007|MESH:D009889|GARD:0009746|ICD10:B66.0 https://rarediseases.info.nih.gov/diseases/9746/opisthorchiasis owl:Class MONDO:0016603 biolink:NamedThing citrullinemia type II Citrullinemia type II is a severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma. tmpaxzxjjyw_mondo_relaxed.owl CTLN2|adult-onset type II citrullinemia|citrullinemia type II|adult-onset citrin deficiency|adult-onset type 2 citrullinemia|citrullinemia type 2 NCIT:C150603|OMIM:603471|ICD10:E72.2|Orphanet:247585|DOID:0070342|SCTID:716863007 owl:Class HGNC:11623 biolink:NamedThing TCF12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014014 biolink:NamedThing epidermolysis bullosa simplex due to exophilin 5 deficiency tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa simplex due to exophilin 5 deficiency|epidermolysis bullosa, nonspecific, autosomal recessive|EBNS|EBS-AR exophilin 5 OMIM:615028|UMLS:C3554367|Orphanet:412189|ICD10:Q81.0 owl:Class MONDO:0003320 biolink:NamedThing blastema predominant kidney Wilms tumor Wilms tumor of the kidney characterized by the predominance of the blastema component. tmpaxzxjjyw_mondo_relaxed.owl blastema predominant kidney Wilms tumor|blastema predominant renal adenosarcoma|blastema predominant renal Wilm's tumor|blastema predominant renal Wilms' tumor|blastema predominant Wilms tumor|blastema predominant kidney Wilms' tumor|blastema predominant renal Wilms tumor|blastema predominant kidney adenosarcoma|blastema predominant nephroblastoma UMLS:C0279609|DOID:5182|NCIT:C9147 owl:Class MONDO:0007880 biolink:NamedThing congenital laryngeal web Congenital laryngeal web is a rare malformation consisting of a membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. tmpaxzxjjyw_mondo_relaxed.owl subglottic web|Laryngeal web|subglottic Bar|gay Feinmesser Cohen syndrome|glottic web, congenital anterior|laryngeal web, familial|subglottic bar, congenital heart disease and low stature|laryngeal web, congenital heart disease and low stature NCIT:C98970|MESH:C563636|OMIM:150360|MESH:C537676|ICD10:Q31.0|MedDRA:10023871|Orphanet:2374|SCTID:444921008|GARD:0002446 https://rarediseases.info.nih.gov/diseases/2446/gay-feinmesser-cohen-syndrome owl:Class MONDO:0010366 biolink:NamedThing FG syndrome 5 tmpaxzxjjyw_mondo_relaxed.owl FG syndrome 5|FGS5 UMLS:C1845119|Orphanet:323|OMIM:300581|MESH:C564480 owl:Class MONDO:0001753 biolink:NamedThing female infertility of uterine origin tmpaxzxjjyw_mondo_relaxed.owl infertility, female, of uterine origin SCTID:26899006|DOID:13589|ICD9:628.3|ICD10:N97.2 owl:Class MONDO:0008469 biolink:NamedThing spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. tmpaxzxjjyw_mondo_relaxed.owl spondyloepimetaphyseal dysplasia with hypotrichosis|Whyte Petersen McAlister syndrome|Whyte syndrome ICD10:Q77.7|UMLS:C1866728|MESH:C535783|OMIM:183849|Orphanet:168443|GARD:0010101 owl:Class UBERON:0016515 biolink:NamedThing muscular layer of prostatic urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002931 biolink:NamedThing conjunctivochalasis tmpaxzxjjyw_mondo_relaxed.owl SCTID:408663001|ICD10:H11.82|DOID:4250|ICD9:372.81|UMLS:C0878693 owl:Class HGNC:6231 biolink:NamedThing KCNB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14154 biolink:NamedThing LMF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:30859 biolink:NamedThing SNRNP200 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008506 biolink:NamedThing symphalangism of toes tmpaxzxjjyw_mondo_relaxed.owl symphalangism of toes MESH:C566101|OMIM:185600|UMLS:C1861418 owl:Class CL:0002552 biolink:NamedThing fibroblast of gingiva tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-02-28T05:09:12Z cell owl:Class HGNC:3534 biolink:NamedThing F13B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020039 biolink:NamedThing 46,XX disorder of sex development induced by androgens excess tmpaxzxjjyw_mondo_relaxed.owl 46,XX DSD induced by androgens excess Orphanet:98078|UMLS:CN227738 owl:Class MONDO:0009604 biolink:NamedThing methemoglobin reductase deficiency tmpaxzxjjyw_mondo_relaxed.owl NADPH-dependent methemoglobin reductase deficiency|TPNH-methemoglobin reductase deficiency|methemoglobin reductase deficiency OMIM:250700|SCTID:234397008|Orphanet:621|UMLS:C0472786|MESH:C563171 owl:Class MONDO:0007830 biolink:NamedThing insensitivity to pain with hyperplastic Myelinopathy tmpaxzxjjyw_mondo_relaxed.owl insensitivity to pain with hyperplastic Myelinopathy OMIM:147530 owl:Class MONDO:0100278 biolink:NamedThing alanine glyoxylate aminotransferase deficiency Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene. tmpaxzxjjyw_mondo_relaxed.owl alanine glyoxylate aminotransferase deficiency|AGXT deficiency|AGXT defect http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0020526 biolink:NamedThing acute megakaryoblastic leukemia in down syndrome tmpaxzxjjyw_mondo_relaxed.owl DS-AMKL UMLS:CN207426|ICD10:C94.2|Orphanet:99887 owl:Class MONDO:0012569 biolink:NamedThing mitral valve prolapse, myxomatous 3 tmpaxzxjjyw_mondo_relaxed.owl mitral valve prolapse 3|myxomatous mitral valve prolapse 3|MVP3|mitral valve prolapse, myxomatous 3|MMVP3 OMIM:610840|UMLS:C1835814|MESH:C563655 owl:Class MONDO:0019439 biolink:NamedThing AA amyloidosis Secondary amyloidosis is a form of amyloidosis, that complicates chronic inflammatory disorders (mainly rheumatoid arthritis) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement. tmpaxzxjjyw_mondo_relaxed.owl secondary amyloidosis|amyloid A amyloidosis|reactive amyloidosis|inflammatory amyloidosis|amyloidosis AA UMLS:C0221014|SCTID:281034005|UMLS:C3536715|ICD10:E85.3|ICD9:277.39|NCIT:C3818|GARD:0010560|MedDRA:10039811|Orphanet:85445 https://rarediseases.info.nih.gov/diseases/10560/amyloidosis-aa owl:Class MONDO:0015790 biolink:NamedThing central diabetes insipidus Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI). tmpaxzxjjyw_mondo_relaxed.owl diabetes insipidus neurohypophyseal|neurogenic diabetes insipidus|diabetes insipidus cranial type|CDI|diabetes insipidus neurogenic Orphanet:178029|OMIM:304900|HP:0000863|OMIM:125700|ICD10:E23.2|MedDRA:10068587|GARD:0006015 owl:Class MONDO:0030996 biolink:NamedThing bleeding disorder, platelet-type, 24 tmpaxzxjjyw_mondo_relaxed.owl bleeding disorder, platelet-type, 24|Glanzmann Thrombasthenia-Like With Macrothrombocytopenia 2|BDPLT24 OMIM:619271 owl:Class MONDO:0001792 biolink:NamedThing epiphora due to insufficient drainage tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155234|ICD10:H04.22|ICD9:375.22|SCTID:85042000|DOID:13756 owl:Class MONDO:0019767 biolink:NamedThing hamel cerebro-palato-cardiac syndrome Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206702|Orphanet:93946 owl:Class MONDO:0005310 biolink:NamedThing atrial flutter A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate of 240-340 beats per minute. Multiple P waves typically appear in the inferior leads in a saw tooth-like pattern between the QRS complexes. (CDISC) tmpaxzxjjyw_mondo_relaxed.owl atrial flutter|atrial flutter (disease) atrial flutter (disease) ICD9:427.32|HP:0004749|NCIT:C51224|MESH:D001282|EFO:0003911|SCTID:5370000 owl:Class MONDO:0005479 biolink:NamedThing atrial tachycardia A disorder characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology. (CDISC) tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35481|SCTID:276796006|EFO:0005308|ICD9:427.89 owl:Class CHEBI:33246 biolink:NamedThing inorganic group Any substituent group which does not contain carbon. tmpaxzxjjyw_mondo_relaxed.owl inorganic groups owl:Class ENVO:01001147 biolink:NamedThing helium planet A gas planet which has an atmosphere composed primarily of helium. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070256 biolink:NamedThing negative regulation of mucus secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of mucus production owl:Class HP:0004332 biolink:NamedThing Abnormal lymphocyte morphology An abnormality of lymphocytes. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of cells of the lymphoid lineage|Abnormal lymphocytes SNOMEDCT_US:250284007|UMLS:C0427546 A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage. peter 2008-02-28T06:46:00Z HP:0001887|HP:0012140 human_phenotype owl:Class UBERON:0004445 biolink:NamedThing proximal epiphysis of proximal phalanx of manual digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17233 biolink:NamedThing ELMO2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004675 biolink:NamedThing hypoglossal nerve root tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11335 biolink:NamedThing SSX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008249 biolink:NamedThing pilonidal sinus A hair-containing cyst or sinus, occurring chiefly in the coccygeal region. tmpaxzxjjyw_mondo_relaxed.owl pilonidal sinus|pilonidal sinus (disease) pilonidal sinus (disease) SCTID:47639008|MESH:D010864|OMIM:173000|HP:0010769 owl:Class MONDO:0018784 biolink:NamedThing pediatric multiple sclerosis Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. tmpaxzxjjyw_mondo_relaxed.owl multiple sclerosis, pediatric|MS pediatric|pediatric MS UMLS:CN037005|GARD:0010443|Orphanet:477738 https://rarediseases.info.nih.gov/diseases/10443/pediatric-multiple-sclerosis owl:Class MONDO:0001819 biolink:NamedThing multiple cranial nerve palsy tmpaxzxjjyw_mondo_relaxed.owl multiple cranial nerve palsies ICD9:352.6|ICD10:G52.7|DOID:13866|SCTID:78152008|UMLS:C0154733 owl:Class MONDO:0010803 biolink:NamedThing Eiken syndrome Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. tmpaxzxjjyw_mondo_relaxed.owl Eiken skeletal dysplasia|bone modeling defect of hands and feet|Eiken syndrome OMIM:600002|SCTID:720863002|Orphanet:79106|UMLS:C1838779|MESH:C564010|DOID:0111732 owl:Class MONDO:0010443 biolink:NamedThing macular degeneration, X-linked atrophic tmpaxzxjjyw_mondo_relaxed.owl macular degeneration, X-linked atrophic OMIM:300834|UMLS:C3151784 owl:Class MONDO:0018631 biolink:NamedThing Marie Unna hereditary hypotrichosis Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty. tmpaxzxjjyw_mondo_relaxed.owl hypotrichosis, Marie Unna type|MUHH|Marie Unna congenital hypotrichosis ICD10:Q84.0|OMIM:146550|UMLS:C2931059|OMIM:612841|Orphanet:444|MESH:C535912|GARD:0003390 owl:Class CL:1000323 biolink:NamedThing pyloric gastric gland goblet cell A goblet cell that is part of the epithelium of pyloric gland. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of epithelium of pyloric gland FMA:263061 cell owl:Class MONDO:0020744 biolink:NamedThing Mobitz type I atrioventricular block A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a progressively lengthening PR interval prior to the block of an atrial impulse. (CDISC) tmpaxzxjjyw_mondo_relaxed.owl AV block second degree Mobitz type I|Wenckebach block|Mobitz type I second degree AV block|type 1 2nd degree AV block|Mobitz I|second degree atrioventricular block Möbitz type I|type 1 second degree AV block|Möbitz I|second degree atrioventricular block Mobitz type I|Möbitz type I second degree AV block|AV block second degree Möbitz type I|type 1 second degree atrioventricular block|Mobitz type I NCIT:C62017 owl:Class HGNC:22947 biolink:NamedThing NLRP7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009347 biolink:NamedThing familial lipochrome histiocytosis tmpaxzxjjyw_mondo_relaxed.owl histiocytosis, familial lipochrome MESH:C562738|SCTID:234577004|OMIM:235900|UMLS:C0334125 owl:Class MONDO:0000815 biolink:NamedThing fetal nicotine spectrum disorder A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060606 owl:Class MONDO:0019151 biolink:NamedThing oligocone trichromacy Oligocone trichromacy is a rare non-progressive form of cone photoreceptor dysfunction characterised by reduced visual acuity, normal retinal appearance, absent or reduced cone responses on electroretinography but normal colour vision. tmpaxzxjjyw_mondo_relaxed.owl Oligocone syndrome UMLS:CN205696|Orphanet:75378|SCTID:722066001|UMLS:C4302876 owl:Class MONDO:0033656 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 21 tmpaxzxjjyw_mondo_relaxed.owl MC4DN21 OMIM:619065 owl:Class HGNC:3214 biolink:NamedThing EEF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013911 biolink:NamedThing hypogonadotropic hypogonadism 9 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the NSMF gene. tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropic hypogonadism caused by mutation in NSMF|HH9|hypogonadotropic hypogonadism 9 with or without anosmia|NSMF hypogonadotropic hypogonadism OMIM:614838|DOID:0090085|ICD10:E23.0|UMLS:C3553842 owl:Class HGNC:26050 biolink:NamedThing TMEM70 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000550 biolink:NamedThing extra-adrenal sympathetic paraganglioma A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas. tmpaxzxjjyw_mondo_relaxed.owl extra-adrenal Chromaffinoma|extra-adrenal sympathetic Paraganglionic neoplasm|extra-adrenal chromaffin neoplasm|extra-adrenal pheochromocytoma|extra-adrenal sympathetic paraganglioma|extraadrenal pheochromocytoma UMLS:C1257877|EFO:0000489|NCIT:C48576|DOID:0050936 Editor note: DO classifies as cancer but we treat as neutral owl:Class FOODON:03420127 biolink:NamedThing animal body or body part Includes carcass meat, organ meat, and nonmeat parts of animals, as well as the whole animal. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006355 biolink:NamedThing superior vesical vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:38418 biolink:NamedThing 1,3-thiazoles tmpaxzxjjyw_mondo_relaxed.owl 1,3-thiazoles owl:Class MONDO:0003714 biolink:NamedThing bladder urachal squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl bladder urachal squamous cell carcinoma UMLS:C1511206|DOID:5957|NCIT:C39845 owl:Class MONDO:0002760 biolink:NamedThing bladder squamous cell carcinoma A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming. tmpaxzxjjyw_mondo_relaxed.owl epidermoid carcinoma of the urinary bladder|bladder squamous cell carcinoma|BLSC|squamous cell carcinoma of the urinary bladder|urinary bladder squamous cell carcinoma|squamous cell carcinoma of urinary bladder|bladder epidermoid carcinoma|urinary bladder epidermoid carcinoma|squamous cell carcinoma of bladder|bladder squamous cell cancer|epidermoid carcinoma of the bladder|epidermoid carcinoma of urinary bladder|squamous cell carcinoma of the bladder|epidermoid carcinoma of bladder UMLS:C0279681|SCTID:255111004|NCIT:C4031|DOID:3742|ONCOTREE:BLSC|EFO:1000130 owl:Class MONDO:0005883 biolink:NamedThing ophthalmic herpes zoster Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve. tmpaxzxjjyw_mondo_relaxed.owl herpes zoster ophthalmicus|HZO|Herpes zoster ophthalmicus (HZO) UMLS:C0019364|SCTID:87513003|GARD:0009721|ICD9:053.29|EFO:0007403|MESH:D006563 owl:Class MONDO:0005805 biolink:NamedThing hypodermyiasis Infestation with larvae of the genus Hypoderma, the warble fly. tmpaxzxjjyw_mondo_relaxed.owl Oestridae disease or disorder|Oestridae caused disease or disorder|Oestridae infectious disease UMLS:C0020607|DOID:12926|MESH:D007000|Orphanet:430|EFO:0007320 owl:Class NCIT:C15496 biolink:NamedThing Progesterone Receptor Positive tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000657 biolink:NamedThing secondary spermatocyte One of the two haploid cells into which a primary spermatocyte divides, and which in turn gives origin to spermatids. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-2195|FMA:72293|BTO:0000709|FBbt:00004941 cell owl:Class MONDO:0016374 biolink:NamedThing cranial neuralgia A neuralgia that involves the cranial neuron projection bundle. tmpaxzxjjyw_mondo_relaxed.owl neuralgia of cranial neuron projection bundle|cranial neuron projection bundle neuralgia|facial neuralgia SCTID:23096007|UMLS:C0010269|Orphanet:221109 owl:Class GO:0036477 biolink:NamedThing somatodendritic compartment The region of a neuron that includes the cell body (cell soma) and dendrite(s), but excludes the axon. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004209 biolink:NamedThing renal vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18514 biolink:NamedThing SPART tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9870 biolink:NamedThing RARS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032659 biolink:NamedThing mucocutaneous ulceration, chronic tmpaxzxjjyw_mondo_relaxed.owl MUCOCUTANEOUS ULCERATION, CHRONIC|CMCU OMIM:618287 owl:Class SO:0001267 biolink:NamedThing snoRNA_gene A gene encoding a small noncoding RNA that participates in the processing or chemical modifications of many RNAs, including ribosomal RNAs and spliceosomal RNAs. tmpaxzxjjyw_mondo_relaxed.owl snoRNA gene owl:Class MONDO:0000301 biolink:NamedThing ophthalmomyiasis An myiasis caused by infection with Oestrus ovis. tmpaxzxjjyw_mondo_relaxed.owl ophthalmic myiasis|Oestrus ovis myiasis|Oestrus ovis caused myiasis|ophthalmomyiasis SCTID:48216006|UMLS:C0027034|DOID:0050268 owl:Class MONDO:0020331 biolink:NamedThing indolent systemic mastocytosis Indolent systemic mastocytosis (ISM) is a benign form of systemic mastocytosis (SM) characterized by an abnormal proliferation of mast cells either only in bone marrow or in numerous tissues. tmpaxzxjjyw_mondo_relaxed.owl ism|indolent systemic mastocytosis (morphologic abnormality) SCTID:70910003|DOID:4660|UMLS:C0272203|Orphanet:98848|NCIT:C9286|ICD10:D47.0|ICDO:9741/1|ONCOTREE:ISM|MedDRA:10056452 owl:Class MONDO:0016586 biolink:NamedThing systemic mastocytosis Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement. tmpaxzxjjyw_mondo_relaxed.owl systemic tissue Mast cell disease|Mast cell disease|systemic mastocytosis|SM|Agressive systemic mastocytosis|SMCD - systemic mast cell disease|systemic tissue mast cell disease|systemic mast cell disease|systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD) DOID:349|UMLS:C0221013|ONCOTREE:SM|NCIT:C9235|ICD10:C96.2|MedDRA:10042949|Orphanet:2467|GARD:0008616|SCTID:397016004 owl:Class MONDO:0009568 biolink:NamedThing mast syndrome Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging. tmpaxzxjjyw_mondo_relaxed.owl hereditary spastic paraplegia 21|autosomal recessive spastic paraplegia type 21|mast syndrome|autosomal recessive spastic paraplegia 21|spastic paraplegia 21, autosomal recessive|Mast syndrome|SPG21 Orphanet:101001|UMLS:C1855346|OMIM:248900|ICD10:G11.4|MESH:C565409|DOID:0060245|SCTID:764734003 owl:Class MONDO:0010078 biolink:NamedThing spondyloperipheral dysplasia-short ulna syndrome An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia. tmpaxzxjjyw_mondo_relaxed.owl spondyloperipheral dysplasia|spondyloperipheral dysplasia with short ulna ICD9:758.89|ICD10:Q77.7|NCIT:C135088|SCTID:702339001|OMIM:271700|GARD:0004994|UMLS:C0796173|Orphanet:1856|MESH:C535799 owl:Class MONDO:0022802 biolink:NamedThing Collins-Sakati syndrome tmpaxzxjjyw_mondo_relaxed.owl Collins Sakati syndrome GARD:0001429 https://rarediseases.info.nih.gov/diseases/1429/collins-sakati-syndrome owl:Class MONDO:0043836 biolink:NamedThing tuberculosis, spinal Tuberculosis of the vertebrae. tmpaxzxjjyw_mondo_relaxed.owl spinal tuberculosis|tuberculosis of vertebral column|Potts disease|pott's paraplegia|disease, pott|disease, pott's|tuberculosis of spine (pott's)|Tuberculoses, spinal|pott disease|tuberculous spondylitis|tuberculosis of vertebral column - pott's|pott's disease|spinal Tuberculoses SCTID:35984006|NCIT:C35087|MESH:D014399 owl:Class MONDO:0020338 biolink:NamedThing adult pure red cell aplasia Adult pure red cell aplasia is a rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms. tmpaxzxjjyw_mondo_relaxed.owl adult pure red-cell aplasia|acquired PRCA|pure red-cell aplasia of adults|acquired pure red cell aplasia|idiopathic pure red cell aplasia ICD10:D60.0|GARD:0010898|SCTID:765748009|Orphanet:98872|UMLS:C0340961|NCIT:C70548 owl:Class MONDO:0001705 biolink:NamedThing pure red-cell aplasia A disease characterized by normocytic, normochromic anemia, low hematocrit, reticulocytopenia, and selective erythroid hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl red cell hypoplasia|pure red cell aplasia|primary red cell aplasia|PRCA DOID:1340|NCIT:C34974|ICD9:284.81|SCTID:50715003|GARD:0007504|MESH:D012010|UMLS:C0034902 owl:Class MONDO:0002687 biolink:NamedThing superior mesenteric artery syndrome Superior mesenteric artery syndrome (SMAS) is a digestive condition that occurs when the duodenum (the first part of the small intestine) is compressed between two arteries (the aorta and the superior mesenteric artery). This compression causes partial or complete blockage of the duodenum. Symptoms vary based on severity, but can be severely debilitating. Symptoms may include abdominal pain, fullness, nausea, vomiting, and/or weight loss. SMAS typically is due toloss of the mesenteric fat pad (fatty tissue that surrounds the superior mesenteric artery). The most common cause is significant weight loss caused by medical disorders, psychological disorders, or surgery. In younger patients, it most commonly occurs after corrective spinal surgery for scoliosis. Delays in diagnosis may result in significant complications. Depending on the cause and severity, treatment options may include addressing the underlying cause, dietary changes (small feedings or a liquid diet), and/or surgery. Symptoms may not resolve completely after treatment. tmpaxzxjjyw_mondo_relaxed.owl superior mesenteric artery syndromic disease|vascular compression of the duodenum|Wilkie syndrome|Arteriomesenteric duodenal compression syndrome|syndromic disease of superior mesenteric artery|Cast syndrome|superior mesenteric artery syndrome EFO:1001201|DOID:3557|NCIT:C85175|MESH:D013478|SCTID:197006009|UMLS:C0038828|GARD:0007712 https://rarediseases.info.nih.gov/diseases/7712/superior-mesenteric-artery-syndrome owl:Class MONDO:0005854 biolink:NamedThing mixed connective tissue disease Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon ; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresivedrugsmay help manage the symptoms. tmpaxzxjjyw_mondo_relaxed.owl MCTD|sharp syndrome|mixed collagen vascular disease|connective tissue disease overlap syndrome MESH:D008947|DOID:3492|MedDRA:10027754|NCIT:C84892|UMLS:C0026272|GARD:0007051|EFO:0007374|ICD10:M35.1|SCTID:398049005|Orphanet:809 https://rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease owl:Class MONDO:0013026 biolink:NamedThing subepithelial mucinous corneal dystrophy Subepithelial mucinous corneal dystrophy (SMCD) is a very rare form of superficial corneal dystrophy characterized by frequent recurrent corneal erosions in the first decade of life, with progressive loss of vision. tmpaxzxjjyw_mondo_relaxed.owl subepithelial mucinous corneal dystrophy|corneal dystrophy, subepithelial mucinous|SMCD SCTID:723582004|ICD10:H18.5|UMLS:C2748503|MESH:C567547|DOID:0060454|OMIM:612867|Orphanet:98959 owl:Class CHEBI:33309 biolink:NamedThing noble gas atom tmpaxzxjjyw_mondo_relaxed.owl noble gas|gas noble|inert gases|gases nobles|Edelgase|gaz noble|Edelgas|gaz nobles|group 18 elements|group VIII elements|rare gases|noble gases owl:Class MONDO:0019360 biolink:NamedThing rickettsialpox tmpaxzxjjyw_mondo_relaxed.owl Rickettsia akari spotted fever|vesicular rickettsiosis UMLS:C0035597|Orphanet:83312|MedDRA:10039137|SCTID:75096007|ICD9:083.2|ICD10:A79.1|DOID:11103 owl:Class MONDO:0100369 biolink:NamedThing iatrogenic or non-iatrogenic A iatrogenic or non-iatrogenic form of a disease. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:4388 biolink:NamedThing GNAL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001632 biolink:NamedThing intracranial arteriosclerosis Vascular diseases characterized by thickening and hardening of the walls of arteries inside the skull. There are three subtypes: (1) atherosclerosis with fatty deposits in the arterial intima; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include headache; confusion; transient blindness (amaurosis fugax); speech impairment; and hemiparesis. tmpaxzxjjyw_mondo_relaxed.owl DOID:13097|UMLS:C0007771|MESH:D002537 owl:Class MONDO:0007060 biolink:NamedThing spermatogenic failure 6 Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene. tmpaxzxjjyw_mondo_relaxed.owl azoospermia caused by mutation in SPATA16|spermatogenic failure 6|acrosome malformation of spermatozoa|globozoospermia|SPATA16 azoospermia|SPGF6|round-headed spermatozoa|spermatogenic failure type 6|spermatozoa, round-headed Orphanet:171709|OMIM:102530|DOID:0070167|SCTID:236818008|Orphanet:399808 owl:Class MONDO:0060490 biolink:NamedThing neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies|NMIHBA UMLS:C4479566|OMIM:617481 owl:Class NCBITaxon:169495 biolink:NamedThing This tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:169455 biolink:NamedThing Coelopellini tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018358 biolink:NamedThing neonatal autoimmune hemolytic anemia tmpaxzxjjyw_mondo_relaxed.owl neonatal AIHA|neonatal AHA Orphanet:398109|ICD10:D59.1 owl:Class UBERON:0011107 biolink:NamedThing synovial joint of pelvic girdle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001216 biolink:NamedThing jejunal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33452 biolink:NamedThing benzylic group Arylmethyl groups and derivatives formed by substitution: ArCR2-. tmpaxzxjjyw_mondo_relaxed.owl benzylic groups|benzylic group|groupe benzylique owl:Class MONDO:0011609 biolink:NamedThing atopic dermatitis 6 An atopic dermatitis associated with variation in the region 5q31-q33. tmpaxzxjjyw_mondo_relaxed.owl atopic dermatitis type 6|ATOD6|dermatitis, ATOPIC, 6 UMLS:C1853899|DOID:0110102|OMIM:605845|MESH:C565279 owl:Class CHEBI:75787 biolink:NamedThing prokaryotic metabolite Any metabolite produced during a metabolic reaction in prokaryotes, the taxon that include members of domains such as the bacteria and archaea. tmpaxzxjjyw_mondo_relaxed.owl prokaryotic metabolites owl:Class MONDO:0007011 biolink:NamedThing uveoparotid fever A manifestation of sarcoidosis marked by chronic inflammation of the parotid gland and the uvea. tmpaxzxjjyw_mondo_relaxed.owl uveoparotid fever|Heerfordt's syndrome MESH:D014608|UMLS:C0042171|DOID:13404|ICD10:D86.89|SCTID:4416007|EFO:1001232|SCTID:31541009 owl:Class MONDO:0017918 biolink:NamedThing white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability ;and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition. tmpaxzxjjyw_mondo_relaxed.owl Curatolo Cilio Pessagno syndrome|Curatolo-Cilio-Pessagno syndrome|familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency GARD:0005560|MESH:C536701|UMLS:C2931292|Orphanet:3207 https://rarediseases.info.nih.gov/diseases/5560/white-matter-hypoplasia-corpus-callosum-agenesis-intellectual-disability-syndrome owl:Class MONDO:0014950 biolink:NamedThing aortic aneurysm, familial thoracic 10 Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the LOX gene. tmpaxzxjjyw_mondo_relaxed.owl aortic aneurysm, familial thoracic type 10|familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX|aortic aneurysm, familial thoracic 10|AAT10|LOX familial thoracic aortic aneurysm and aortic dissection OMIM:617168|UMLS:C4284414 owl:Class MONDO:0018575 biolink:NamedThing microcephalic primordial dwarfism-insulin resistance syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIM:616541|ICD10:Q87.1|Orphanet:436182|OMIM:617253|UMLS:CN237592 owl:Class MONDO:0021131 biolink:NamedThing frontal lobe ependymal tumor An ependymal tumor affecting the frontal lobe of the brain. tmpaxzxjjyw_mondo_relaxed.owl ependymal tumor of frontal lobe|frontal lobe ependymal tumor NCIT:C131573|UMLS:C4330009 owl:Class MONDO:0020530 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal infections with bacillus Calmette-GuC)rin (BCG) and other environmental mycobacteria (EM). tmpaxzxjjyw_mondo_relaxed.owl interferon gamma, receptor 1, deficiency|IFNGR1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IFNGR1|Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency|MSMD due to complete interferon gamma receptor 1 deficiency|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency|MSMD due to complete IFNgammaR1 deficiency ICD10:D84.8|Orphanet:99898|OMIM:209950|MESH:C535530|UMLS:C2930924|GARD:0003011 owl:Class MONDO:0005408 biolink:NamedThing diabetes mellitus type 2 associated cataract Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism tmpaxzxjjyw_mondo_relaxed.owl EFO:0004596 owl:Class MONDO:0010814 biolink:NamedThing chondrodysplasia-pseudohermaphroditism syndrome Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. tmpaxzxjjyw_mondo_relaxed.owl Nivelon-Nivelon-Mabille syndrome|chondrodysplasia-disorder of sex development syndrome|chondrodysplasia-pseudohermaphroditism syndrome DOID:0060644|OMIM:600092|SCTID:720851007|ICD10:Q87.1|UMLS:C1838654|MESH:C536123|Orphanet:1422 owl:Class MONDO:0056816 biolink:NamedThing vulvar neuroendocrine carcinoma A neuroendocrine carcinoma that arises from the vulva. This category includes small cell and large cell neuroendocrine carcinoma. Most small cell neuroendocrine carcinomas of the vulva are Merkel cell carcinomas. tmpaxzxjjyw_mondo_relaxed.owl vulvar Neuroendocrine cancer|mammalian vulva neuroendocrine carcinoma|vulvar high grade Neuroendocrine neoplasm|vulvar high grade Neuroendocrine carcinoma|vulvar Neuroendocrine carcinoma|neuroendocrine carcinoma of mammalian vulva UMLS:C4288002|NCIT:C128243 owl:Class UBERON:0011585 biolink:NamedThing cell condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032643 biolink:NamedThing pontocerebellar hypoplasia, type 12 tmpaxzxjjyw_mondo_relaxed.owl PCH12|PONTOCEREBELLAR HYPOPLASIA, TYPE 12 OMIM:618266 owl:Class MONDO:0007587 biolink:NamedThing external auditory canal atresia-vertical talus-hypertelorism syndrome tmpaxzxjjyw_mondo_relaxed.owl Rasmussen syndrome|Rasmussen-Johnsen-Thomsen syndrome|external auditory canal, bilateral atresia of, with congenital vertical talus|inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance|Rasmussen Johnsen Thomsen syndrome Orphanet:3023|ICD10:Q87.8|OMIM:133705|UMLS:C2930867|GARD:0004638 owl:Class MONDO:0015818 biolink:NamedThing aggressive primary cutaneous B-cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:178554 owl:Class HGNC:33235 biolink:NamedThing PWRN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000164 biolink:NamedThing primitive urogenital sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018816 biolink:NamedThing isolated neonatal sclerosing cholangitis Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease. tmpaxzxjjyw_mondo_relaxed.owl sclerosing cholangitis, neonatal|NSC OMIM:617394|Orphanet:480556|UMLS:C4479344 owl:Class MONDO:0004910 biolink:NamedThing mitral valve prolapse A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia. tmpaxzxjjyw_mondo_relaxed.owl floppy mitral valve|mitral valve prolapse, myxomatous|mitral valve prolapse|barlow's syndrome|mitral valve prolapse syndrome|prolapse, mitral valve|mitral leaflet syndrome|valve, prolapse Of mitral|systolic click-murmur syndrome|mitral valve prolapse (disease)|myxomatous mitral valve prolapse mitral valve prolapse (disease) SCTID:409712001|NCIT:C50655|DOID:988|HP:0001634 owl:Class HGNC:11187 biolink:NamedThing SOS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020147 biolink:NamedThing anophthalmia-microphthalmia syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q11.2|Orphanet:98555|UMLS:CN120488|ICD10:Q11.1|ICD10:Q11.0 owl:Class GO:2001212 biolink:NamedThing regulation of vasculogenesis Any process that modulates the frequency, rate or extent of vasculogenesis. tmpaxzxjjyw_mondo_relaxed.owl regulation of vascular morphogenesis owl:Class MONDO:0011968 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2D Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by childhood onset of progressive proximal weakness of the shoulder and pelvic girdle muscles, resulting in difficulty walking, scapular winging, calf hypertrophy and contractures of the Achilles tendon, which lead to a tiptoe gait pattern. Cardiac and respiratory involvement is rare. tmpaxzxjjyw_mondo_relaxed.owl Duchenne-like autosomal recessive muscular dystrophy type 2|Duchenne-like autosomal recessive muscular dystrophy, type 2|primary adhalinopathy|Alpha-sarcoglycanopathy|limb-girdle muscular dystrophy, type 2D|LGMD2D|limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency|DMDA2|SGCA autosomal recessive limb-girdle muscular dystrophy|Adhalinopathy, primary|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA|limb-girdle muscular dystrophy type 2D|muscular dystrophy limb-girdle with alpha-sarcoglycan|muscular dystrophy, limb-girdle, type 2D NCIT:C142081|Orphanet:62|SCTID:715340002|DOID:0110278|GARD:0000438|OMIM:608099|ICD10:G71.0 owl:Class MONDO:0000616 biolink:NamedThing progesterone-receptor negative breast cancer tmpaxzxjjyw_mondo_relaxed.owl DOID:0060078 Editor note: check why not in NCIT; note also that triple-negative should be classified here owl:Class MONDO:0006272 biolink:NamedThing low grade fibromyxoid sarcoma A low grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein. tmpaxzxjjyw_mondo_relaxed.owl low-grade fibromyxoid sarcoma|low grade fibromyxoid sarcoma ICD9:171.9|NCIT:C45202|ONCOTREE:LGFMS|EFO:1000328|SCTID:404088004|UMLS:C1275282 owl:Class MONDO:0003356 biolink:NamedThing epithelioid leiomyosarcoma A morphologic variant of leiomyosarcoma characterized by the presence of epithelioid round cells with eosinophilic to clear cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl epithelioid leiomyosarcoma ICDO:8891/3|UMLS:C0205815|DOID:5264|MESH:D007890|NCIT:C3700 owl:Class GO:0051648 biolink:NamedThing vesicle localization Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. tmpaxzxjjyw_mondo_relaxed.owl vesicle localisation|cytoplasmic vesicle localization|establishment and maintenance of vesicle localization owl:Class GO:0051640 biolink:NamedThing organelle localization Any process in which an organelle is transported to, and/or maintained in, a specific location. tmpaxzxjjyw_mondo_relaxed.owl organelle localisation|establishment and maintenance of organelle localization owl:Class MONDO:0004508 biolink:NamedThing periapical periodontitis Inflammation of the periapical tissue. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is periapical granuloma. Suppurative inflammation is periapical abscess. tmpaxzxjjyw_mondo_relaxed.owl apical periodontitis EFO:1001391|ICD10:K04.5|UMLS:C0031030|DOID:823|MESH:D010485|SCTID:39273001 owl:Class MONDO:0008643 biolink:NamedThing veins, pattern of, on anterior thorax tmpaxzxjjyw_mondo_relaxed.owl veins, pattern of, on anterior thorax OMIM:192400 owl:Class HGNC:14103 biolink:NamedThing ARHGEF10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010361 biolink:NamedThing intellectual disability, X-linked 30 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the PAK3 gene. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic X-linked intellectual disability caused by mutation in PAK3|PAK3 non-syndromic X-linked intellectual disability|mental retardation, X-linked 47|intellectual disability, X-linked 47|mental retardation, X-linked type 30|mental retardation, X-linked 30|MRX30|intellectual disability, X-linked type 30|intellectual disability, X-linked 30 UMLS:C0796237|Orphanet:777|OMIM:300558 owl:Class MONDO:0008198 biolink:NamedThing parietal foramina with cleidocranial dysplasia Parietal foramina with clavicular hypoplasia is a rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported. tmpaxzxjjyw_mondo_relaxed.owl parietal foramina with cleidocranial dysostosis|PFMCCD|cleidocranial dysplasia with parietal foramina|parietal foramina with cleidocranial dysplasia|parietal foramina with clavicular hypoplasia ICD10:Q74.0|MESH:C566825|OMIM:168550|Orphanet:251290|UMLS:C1868597 owl:Class MONDO:0001600 biolink:NamedThing mucocele of salivary gland A benign cyst located in the salivary gland that is lined by epithelium and filled with mucoid fluid, tissue, or other material; it is usually caused by duct obstruction. tmpaxzxjjyw_mondo_relaxed.owl mucous retention cyst of salivary gland|salivary gland mucocele|ranula|salivary cyst ICD10:K11.6|UMLS:C0026686|DOID:12904|ICD9:527.6|MESH:D011900|SCTID:69825009|NCIT:C27649|UMLS:C2242813 owl:Class MONDO:0011912 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 37 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in MYO6|autosomal recessive deafness 37|MYO6 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 37|DFNB37|autosomal recessive nonsyndromic deafness type 37|autosomal recessive nonsyndromic deafness 37|deafness, autosomal recessive 37 UMLS:C1843028|OMIM:607821|DOID:0110495|MESH:C564331|ICD10:H90.3 owl:Class GO:0002437 biolink:NamedThing inflammatory response to antigenic stimulus An inflammatory response to an antigenic stimulus, which can be include any number of T cell or B cell epitopes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0099081 biolink:NamedThing supramolecular polymer A polymeric supramolecular structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007564 biolink:NamedThing pilomatrixoma Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome. tmpaxzxjjyw_mondo_relaxed.owl pilomatrixoma|benign hair follicle neoplasm|PTR|epithelioma calcificans of Malherbe|pilomatrixoma, benign|pilomatricoma|benign pilomatricoma|benign pilomatrixoma|calcifying epithelioma of Malherbe|calcifying Epitherlioma of Malherbe MedDRA:10035040|DOID:5374|UMLS:C0206711|GARD:0009452|MESH:D018296|ICD10:C44.3|NCIT:C7368|UMLS:C0853031|ICD10:C44.6|EFO:0009082|Orphanet:91414|SCTID:274901004|ICDO:8110/0|OMIM:132600 https://rarediseases.info.nih.gov/diseases/9452/pilomatrixoma owl:Class MONDO:0003413 biolink:NamedThing hair follicle neoplasm A benign or malignant neoplasm arising from the hair follicle. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of hair follicle|hair matrix neoplasm|hair follicle neoplasm|hair matrix tumour|hair follicle neoplasm (disease)|hair matrix tumor|hair follicle tumor|tumor of hair follicle|neoplasm of the hair follicle DOID:5375|NCIT:C7367|UMLS:C0859920 owl:Class MONDO:0003715 biolink:NamedThing bladder urachal carcinoma Urachal cancer is a type of bladder cancer, making up less than 1% of all bladder cancers. The urachus is a structure normally only present during development in the womb that connects the bellybutton and the bladder. This connection normally disappears before birth, but in some people remains. Urachalcancers are usually diagnosed in adults in their 50's and 60's and may develop at the dome or anterior wall of the bladder, along the midline of the body (including the belly button), and between the pubis symphasis and the bladder.Most urachal cancersare adenocarcinomas (cancers that develop from gland cells).Others may besarcomas (which develop from connective tissue -such as leiomyosarcoma, rhabdomyosarcoma, and malignant fibrous histiocytoma), small cell carcinomas, transitional cell cancer, and mixed neoplasias. Most individuals with urachal cancer have symptoms of with hematuria (blood in urine). Other symptoms may include abdominal pain, a palpable abdominal mass, mucinuria, and bacteriuria. Treatment usually involved surgery to remove the cancer. tmpaxzxjjyw_mondo_relaxed.owl bladder urachal cancer|urachal carcinoma|bladder urachal carcinoma ONCOTREE:URCA|MESH:C536475|GARD:0007836|DOID:5958|UMLS:C1511205|NCIT:C39842 owl:Class NCBITaxon:426439 biolink:NamedThing Haemaphysalinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044333 biolink:NamedThing alcohol-induced Wernicke-Korsakoff's syndrome A syndrome which occurs in individuals with a history of alcohol abuse. It is caused by prolonged alcohol-induced neurological damage and malnutrition including vitamin and electrolyte deficiencies. Clinical signs include altered mental status, visual impairment and decreased muscle coordination. The clinical course varies and is, in part, dependent upon the severity of symptoms at presentation. The prognosis is poor and worsens if alcohol abuse continues. tmpaxzxjjyw_mondo_relaxed.owl alcohol-induced Wernicke-Korsakoff's syndrome|alcohol-induced amnestic syndrome|alcoholic Korsakoff's psychosis NCIT:C34366 Editor note: we follow NCIT in making a subtype of KW for alcoholic form, but other sources treat these as equivalent. TODO - check this. owl:Class MONDO:0007647 biolink:NamedThing gastric volvulus, intrathoracic tmpaxzxjjyw_mondo_relaxed.owl gastric volvulus, intrathoracic MESH:C564989|OMIM:137210|UMLS:C1850902 owl:Class MONDO:0005483 biolink:NamedThing chemotherapy-induced alopecia Hair loss as a result of chemotherapy treatment. tmpaxzxjjyw_mondo_relaxed.owl EFO:0005400 owl:Class UBERON:0036300 biolink:NamedThing tributary of central retinal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013420 biolink:NamedThing age related macular degeneration 12 Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene. tmpaxzxjjyw_mondo_relaxed.owl age-related macular degeneration caused by mutation in CX3CR1|CX3CR1 age-related macular degeneration|ARMD12|age related macular degeneration type 12|macular Degeneration, age-related, type 12|macular degeneration, age-related, 12 DOID:0110024|OMIM:613784|UMLS:C3151079 owl:Class MONDO:0008788 biolink:NamedThing IRIDA syndrome IRIDA (Iron-refractory iron deficiency anemia) syndrome is a rare autosomal recessive iron metabolism disorder characterized by iron deficiency anemia (hypochromic, microcytic) that is often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. tmpaxzxjjyw_mondo_relaxed.owl anemia, hypochromic microcytic, with defect in iron metabolism|pseudo-iron-deficiency Anemia|iron-handling disorder, hereditary|IRIDA syndrome|IRIDA|iron-refractory iron deficiency anemia ICD10:D50.8|GARD:0010957|SCTID:722005000|Orphanet:209981|MESH:C562385|OMIM:206200 owl:Class MONDO:0012416 biolink:NamedThing Devriendt syndrome tmpaxzxjjyw_mondo_relaxed.owl Devriendt syndrome|severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism|severe short stature, hyperphalangy of the index fingers, intellectual disability and facial dysmorphism OMIM:610136|GARD:0010052|UMLS:C1857830|MESH:C535947 https://rarediseases.info.nih.gov/diseases/10052/devriendt-syndrome owl:Class MONDO:0008096 biolink:NamedThing nevus flammeus of nape of neck tmpaxzxjjyw_mondo_relaxed.owl erythema nuchae|nevus flammeus of nape of neck|Unna Nevus MESH:C567524|OMIM:163100 owl:Class MONDO:0020347 biolink:NamedThing acute inflammatory demyelinating polyradiculoneuropathy An inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barre syndrome (GBS). tmpaxzxjjyw_mondo_relaxed.owl GBS, acute inflammatory demyelinating polyradiculoneuropathic form|AIDP|acute idiopathic demyelinating polyneuropathy|Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|acute inflammatory polyneuropathy|acute inflammatory demyelinating polyradiculopathy|Guillain-Barre syndrome, acute inflammatory demyelinating polyradiculoneuropathic form NCIT:C116926|UMLS:CN207194|ICD10:G61.0|OMIM:139393|Orphanet:98916 Editor note: check this https://github.com/monarch-initiative/mondo/issues/3467#issuecomment-894502830 owl:Class MONDO:0024421 biolink:NamedThing short stature contractures hypotonia tmpaxzxjjyw_mondo_relaxed.owl Hennekam Koss de Geest syndrome GARD:0004839 Editor note: disappeared from Orphanet? owl:Class HGNC:28993 biolink:NamedThing PIEZO1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003923 biolink:NamedThing ethmoid sinus Schneiderian papilloma A papilloma that arises from the ciliated respiratory mucosa that lines the ethmoid sinus. It is classified as inverted papilloma and oncocytic papilloma. tmpaxzxjjyw_mondo_relaxed.owl Schneiderian papilloma of the ethmoid sinus|ethmoid sinus Schneiderian papilloma|Schneiderian papilloma of ethmoid sinus DOID:6559|UMLS:C1333476|NCIT:C6836 owl:Class GO:0034754 biolink:NamedThing cellular hormone metabolic process The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone, as carried out by individual cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008139 biolink:NamedThing OSLAM syndrome OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. tmpaxzxjjyw_mondo_relaxed.owl osteosarcoma, limb anomalies, and macrocytosis|osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow|OSLAM syndrome|osteosarcoma, limb anomalies (clinodactyly, absence of digital ray in foot, bilateral radioulnar synostosis) and macrocytosis without anemia|osteosarcoma-limb anomalies-erythroid macrocytosis syndrome GARD:0004129|OMIM:165660|UMLS:C1833792|ICD10:C41.9|Orphanet:2760|SCTID:733064004|MESH:C537138 owl:Class MONDO:0014780 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 6 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene. tmpaxzxjjyw_mondo_relaxed.owl glycosylphosphatidylinositol biosynthesis defect 12|hyperphosphatasia with intellectual disability syndrome 6|HPMRS6|hyperphosphatasia with mental retardation syndrome type 6|hyperphosphatasia with mental retardation syndrome 6|hyperphosphatasia with intellectual disability syndrome 6; HPMRS6|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY|PIGY hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome type 6 OMIM:616809|UMLS:C4225201 owl:Class MONDO:0021158 biolink:NamedThing gonococcal epididymo-orchitis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341782|SCTID:236772009 owl:Class MONDO:0011881 biolink:NamedThing keratosis palmoplantaris striata 3 Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT1 gene. tmpaxzxjjyw_mondo_relaxed.owl striate palmoplantar keratoderma 3|keratoderma palmoplantar striate form 3|striate palmoplantar keratoderma caused by mutation in KRT1|keratoderma, palmoplantar, striate form 3|keratosis palmoplantaris striata type 3|KRT1 striate palmoplantar keratoderma|keratosis palmoplantaris striata III|PPKS3 UMLS:C2931123|Orphanet:50942|MESH:C536163|GARD:0009173|OMIM:607654 https://rarediseases.info.nih.gov/diseases/9173/keratosis-palmoplantaris-striata-3 owl:Class MONDO:0018865 biolink:NamedThing striate palmoplantar keratoderma Striate palmoplantar keratoderma is an isolated, focal, hereditary palmoplantar keratoderma characterized by linear hyperkeratosis along the flexor aspect of the fingers and on palms, as well as focal hyperkeratosis of the plantar skin. Patients present with painful thickening of the skin on palms and soles, with occasional fissuring, blistering and hyperhidrosis. Rarely, hyperkeratosis on other areas may be seen (knees, dorsal aspects of the digits). Histopatologically, widened intercellular spaces between keratinocytes are observed. tmpaxzxjjyw_mondo_relaxed.owl keratosis palmoplantaris striata|keratosis palmoplantaris striata et areata|keratosis palmoplantaris varians of Wachters OMIM:612908|Orphanet:50942|OMIM:607654|SCTID:764958008|ICD10:Q82.8|UMLS:CN205191|OMIM:148700 owl:Class MONDO:0007051 biolink:NamedThing acromegaloid facial appearance syndrome Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome. tmpaxzxjjyw_mondo_relaxed.owl acromegaloid facial appearance syndrome|AFA syndrome|thick lips and oral mucosa ICD10:Q87.0|OMIM:102150|UMLS:C0796280|GARD:0000501|MESH:C535655|SCTID:720456009|Orphanet:965 https://rarediseases.info.nih.gov/diseases/501/acromegaloid-facial-appearance-syndrome owl:Class MONDO:0004169 biolink:NamedThing premenstrual tension A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of pms are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0376356|ICD9:625.4|DOID:727|ICD10:N94.3|MESH:D011293 owl:Class MONDO:0013700 biolink:NamedThing pancreatic triacylglycerol lipase deficiency An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase. tmpaxzxjjyw_mondo_relaxed.owl colipase, congenital absence of pancreatic|PL deficiency|lipase and colipase, deficiency of|pancreatic triglyceride lipase deficiency|lipase and colipase, congenital absence of pancreatic|pancreatic colipase deficiency|pancreatic lipase deficiency|PNLIPD|lipase, congenital absence of pancreatic Orphanet:309111|Orphanet:309108|OMIM:614338|ICD10:K90.3|Orphanet:309031|ICD9:277.89|UMLS:C0268241|SCTID:78960005|NCIT:C129030|UMLS:C0268240 owl:Class MONDO:0022404 biolink:NamedThing retinal ciliopathy due to mutation in usher gene tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156177 owl:Class MONDO:0022765 biolink:NamedThing chronic demyelinizing neuropathy with IgM monoclonal tmpaxzxjjyw_mondo_relaxed.owl GARD:0001352 https://rarediseases.info.nih.gov/diseases/1352/chronic-demyelinizing-neuropathy-with-igm-monoclonal owl:Class GO:0045669 biolink:NamedThing positive regulation of osteoblast differentiation Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. tmpaxzxjjyw_mondo_relaxed.owl activation of osteoblast differentiation|up regulation of osteoblast differentiation|stimulation of osteoblast differentiation|upregulation of osteoblast differentiation|up-regulation of osteoblast differentiation owl:Class MONDO:0021453 biolink:NamedThing benign neoplasm of retina A benign neoplasm that involves the retina. tmpaxzxjjyw_mondo_relaxed.owl retina benign neoplasm|benign retina neoplasm|benign retina tumor|benign retinal neoplasm|benign retinal tumor|benign tumor of retina|benign neoplasm of the retina|benign tumor of the retina NCIT:C3624|SCTID:92321003|ICD9:224.5|UMLS:C0154027 owl:Class MONDO:0000371 biolink:NamedThing oral cavity carcinoma in situ A in situ carcinoma that involves the oral cavity. tmpaxzxjjyw_mondo_relaxed.owl carcinoma in situ of the mouth|stage 0 oral cavity cancer|stage 0 carcinoma of the oral cavity|stage 0 carcinoma of oral cavity|stage 0 oral cavity cancer aJCC v6 and v7|carcinoma in situ of the oral cavity|stage 0 oral cavity carcinoma|stage 0 carcinoma of mouth|stage 0 oral cavity cancer aJCC v7|carcinoma in situ of oral cavity|stage 0 oral cavity cancer aJCC v6|mouth carcinoma in situ|oral cavity in situ carcinoma|carcinoma in situ of mouth|stage 0 carcinoma of the mouth|stage 0 mouth carcinoma DOID:0050610|UMLS:C0347073|NCIT:C4587|SCTID:92660005 MONDO:0021286 owl:Class MONDO:0029134 biolink:NamedThing severe combined immunodeficiency due to CARMIL2 deficiency tmpaxzxjjyw_mondo_relaxed.owl IMD58|immunodeficiency 58 Orphanet:542301|OMIM:618131 owl:Class HGNC:26661 biolink:NamedThing RNF168 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019751 biolink:NamedThing polyol metabolic process The chemical reactions and pathways involving a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms. tmpaxzxjjyw_mondo_relaxed.owl polyhydric alcohol metabolic process|polyol metabolism owl:Class MONDO:0003445 biolink:NamedThing extrahepatic bile duct adenoma An adenoma that arises from the extrahepatic bile ducts. It is classified as papillary, tubular, or tubulopapillary. tmpaxzxjjyw_mondo_relaxed.owl adenoma of the extrahepatic bile duct|extrahepatic bile duct adenoma|adenoma of extrahepatic bile duct DOID:5438|NCIT:C5857|UMLS:C1331534 owl:Class MONDO:0016757 biolink:NamedThing malignant triton tumor Malignant triton tumor (MTT) is a rare aggressive subtype of malignant peripheral nerve sheath tumor (MPNST) characterized histopathologically by focal rhabdomyoblastic differentiation. tmpaxzxjjyw_mondo_relaxed.owl MPNST with rhabdomyosarcomatous differentiation|malignant peripheral nerve sheath tumor with rhabdomyosarcoma|malignant tumor of peripheral nerve sheath with rhabdomyosarcoma|malignant Triton tumour|MTT|MPNST with rhabdomyosarcoma|malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma|malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation|malignant tumor of the peripheral nerve sheath with rhabdomyosarcoma|malignant neoplasm of peripheral nerve sheath with rhabdomyosarcoma|malignant neoplasm of the peripheral nerve sheath with rhabdomyosarcoma|MPNST with rhabdomyoblastic differentiation SCTID:404040002|NCIT:C4335|ICD9:171.9|DOID:6707|UMLS:C0334616|Orphanet:252212|ICDO:9561/3 owl:Class MONDO:0011861 biolink:NamedThing breath-holding Spells tmpaxzxjjyw_mondo_relaxed.owl breath-holding Spells|Bhs OMIM:607578 owl:Class MONDO:0012207 biolink:NamedThing umbilicus, familial flat tmpaxzxjjyw_mondo_relaxed.owl flat umbilicus familial|flat umbilicus autosomal dominant|flat umbilicus, autosomal dominant|umbilicus, familial flat GARD:0009490|OMIM:609164|UMLS:C1836682|MESH:C537059 https://rarediseases.info.nih.gov/diseases/9490/flat-umbilicus-familial owl:Class UBERON:0003406 biolink:NamedThing cartilage of respiratory system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001139 biolink:NamedThing sexual masochism disorder A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer. tmpaxzxjjyw_mondo_relaxed.owl sexual masochism DOID:10849|ICD9:302.83|SCTID:51239001|ICD10:F65.51|MESH:D008398|NCIT:C94356 owl:Class MONDO:0000231 biolink:NamedThing Far eastern spotted fever tmpaxzxjjyw_mondo_relaxed.owl Rickettsia heilongjiangensis spotted fever SCTID:472822008|UMLS:C3532354|DOID:0050046 owl:Class HGNC:18985 biolink:NamedThing DCXR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044644 biolink:NamedThing congenital agenesis of the scrotum tmpaxzxjjyw_mondo_relaxed.owl congenital absence of the scrotum|congenital scrotal absence|congenital scrotal agenesis Orphanet:495879 owl:Class OBO:CHR_9606-chr5q12 biolink:NamedThing 5q12 (Human) tmpaxzxjjyw_mondo_relaxed.owl 67400000 59600000 hg38 owl:Class UBERON:0010023 biolink:NamedThing dorsal part of pharyngeal pouch 2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032268 biolink:NamedThing regulation of cellular protein metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular protein metabolism owl:Class MONDO:0044330 biolink:NamedThing hyperekplexia 4 Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400). tmpaxzxjjyw_mondo_relaxed.owl hyperekplexia 4|HKPX4 OMIM:618011|UMLS:CN248518|DOID:0080581 owl:Class MONDO:0006831 biolink:NamedThing leukostasis A disorder involving the aberrant infiltration and aggregation of leukocytes into the vasculature of the body. Leukostasis is typically detected in the brain and lungs of persons with leukemia. It requires substantial ablative modalities to both reduce the number of cells present and to ensure dispersion of the aggregates. tmpaxzxjjyw_mondo_relaxed.owl leukostasis (morphologic abnormality) NCIT:C4062|MESH:D018921|DOID:12986|UMLS:C0282548|MedDRA:10024404|EFO:1001016 owl:Class MONDO:0017858 biolink:NamedThing acute erythroid leukemia An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl FAB M6|Di Guglielmo's syndrome|acute erythroblastic leukemia|Di Guglielmo syndrome|acute myeloid leukemia FAB-M6|leukemia, erythroid, malignant|acute erythroleukemia|acute erythroid leukemia|Erythroleukemia|acute myeloid leukemia M6|AML M6|AEL|acute erythroleukemia M6a subtype|erythroblastic leukemia|AML-M6|acute erythroleukemia M6b subtype|M6 acute myeloid leukemia SCTID:93451002|OMIM:133180|ICDO:9840/3|Orphanet:318|MESH:D004915|ICD9:207.00|GARD:0009620|ICD10:C94.0|UMLS:C0023440|GARD:0009750|ICD9:205.80|NCIT:C8923 https://rarediseases.info.nih.gov/diseases/9750/di-guglielmos-syndrome|https://rarediseases.info.nih.gov/diseases/9620/acute-erythroid-leukemia owl:Class MONDO:0013296 biolink:NamedThing myeloid neoplasm associated with FGFR1 rearrangement Hematologic neoplasms characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. Patients present with a myeloproliferative neoplasm, acute myeloid leukemia, lymphoblastic lymphoma/leukemia of T or B-cell lineage, or acute leukemia of mixed phenotype. tmpaxzxjjyw_mondo_relaxed.owl chromosome 8p11 myeloproliferative syndrome|myeloid/lymphoid neoplasm associated with FGFR1 rearrangement|8p11 myeloproliferative syndrome|myeloid/lymphoid neoplasms with FGFR1 rearrangement|stem cell leukemia/lymphoma|8p11 stem cell leukemia/lymphoma syndrome|8p11 stem cell lymphoma/leukemia syndrome|myeloid and lymphoid neoplasms with FGFR1 rearrangement|8p11 stem cell syndrome NCIT:C84277|ICD10:D47.1|Orphanet:168953|UMLS:C3150773|ONCOTREE:MLNFGFR1|ICDO:9967/3|OMIM:613523|UMLS:C2827362 owl:Class GO:0046146 biolink:NamedThing tetrahydrobiopterin metabolic process The chemical reactions and pathways involving tetrahydrobiopterin, the reduced form of biopterin (2-amino-4-hydroxy-6-(1,2-dihydroxypropyl)-pteridine). It functions as a hydroxylation coenzyme, e.g. in the conversion of phenylalanine to tyrosine. tmpaxzxjjyw_mondo_relaxed.owl 5,6,7,8-tetrahydrobiopterin metabolic process|tetrahydrobiopterin metabolism owl:Class GO:0034311 biolink:NamedThing diol metabolic process The chemical reactions and pathways involving a diol, a compound that contains two hydroxy groups, generally assumed to be, but not necessarily, alcoholic. tmpaxzxjjyw_mondo_relaxed.owl dihydric alcohol metabolic process|diol metabolism owl:Class MONDO:0015480 biolink:NamedThing coloboma of superior eyelid Coloboma of superior eyelid is a rare developmental defect during embryogenesis characterized by a typically unilateral, partial or full-thickness, variably sized defect of the superior eyelid, ranging from a small notch to complete absence of the entire lid, which is commonly triangular in shape (with base at eyelid margin) and located on the medial third of the lid. It can occur isolated, associated with other anomalies (e.g. ocular/orbital and facial), or as part of a syndrome. tmpaxzxjjyw_mondo_relaxed.owl superior palpebral coloboma Orphanet:155884|SCTID:763132003|ICD10:Q10.3 Editor note: TODO axioms owl:Class MONDO:0002194 biolink:NamedThing vestibular papilloma A benign papillary neoplasm that arises from the vulva and is characterized by the presence of a delicate fibrovascular stalk lined by squamous epithelium. There is no evidence of epithelial atypia. tmpaxzxjjyw_mondo_relaxed.owl mammalian vulva squamous papilloma|vestibular papilloma|vulvar squamous papilloma NCIT:C6376|DOID:2071|UMLS:C1336982 owl:Class GO:0043010 biolink:NamedThing camera-type eye development The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001654 biolink:NamedThing eye development The process whose specific outcome is the progression of the eye over time, from its formation to the mature structure. The eye is the organ of sight. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014697 biolink:NamedThing immunodeficiency, common variable, 12 Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene. tmpaxzxjjyw_mondo_relaxed.owl common variable immunodeficiency caused by mutation in NFKB1|immunodeficiency, common variable, 12|NFKB1 deficiency|CVID12|immunodeficiency, common variable, type 12|NFKB1 common variable immunodeficiency UMLS:C4225277|OMIM:616576 owl:Class MONDO:0009970 biolink:NamedThing renal tubular dysgenesis of genetic origin An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl renal tubular dysgenesis of genetic origin|RTD|renal tubular dysgenesis|genetic renal tubular dysgenesis|renal tubular dysgenesis with choanal atresia and athelia|primitive renal tubule syndrome OMIM:267430|Orphanet:3033|Orphanet:97369|ICD10:Q63.8 owl:Class NCBITaxon:131567 biolink:NamedThing cellular organisms tmpaxzxjjyw_mondo_relaxed.owl biota GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002420 biolink:NamedThing tic disorder Disorders characterized by recurrent TICS that may interfere with speech and other activities. Tics are sudden, rapid, nonrhythmic, stereotyped motor movements or vocalizations which may be exacerbated by stress and are generally attenuated during absorbing activities. Tic disorders are distinguished from conditions which feature other types of abnormal movements that may accompany another another condition. (From DSM-IV, 1994) tmpaxzxjjyw_mondo_relaxed.owl ICD9:307.2|MESH:D013981|DOID:2769|ICD9:307.20|ICD10:F95|SCTID:568005|ICD10:F95.9 owl:Class MONDO:0003706 biolink:NamedThing adult brainstem astrocytoma tmpaxzxjjyw_mondo_relaxed.owl adult brain stem astrocytoma|adult brainstem astrocytoma UMLS:C1332191|NCIT:C6954|DOID:5922 owl:Class CL:0011016 biolink:NamedThing flagellated sperm cell A motile sperm cell that contains a slender threadlike microscopic appendage that enables motion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0011013 biolink:NamedThing motile sperm cell A sperm cell that is cabaple of motion (motility). tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:25340 biolink:NamedThing methylpyridines Any member of the class of pyridines that carries at least one methyl substituent. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003572 biolink:NamedThing nasopharyngeal type undifferentiated carcinoma A nonkeratinizing carcinoma which occurs predominantly in the nasopharynx but also in the tonsils and rarely in other anatomic sites. It is characterized by the presence of large malignant cells with vesicular nuclei, prominent nucleoli, syncytial growth pattern, and a lymphoplasmacytic infiltrate. tmpaxzxjjyw_mondo_relaxed.owl Schmincke tumor|nasopharyngeal type undifferentiated carcinoma|lymphoepithelioma-like carcinoma|Schminke tumor|lymphoepithelioma|lymphoepithelial carcinoma UMLS:C0334254|NCIT:C4107|DOID:5660|ICDO:8082/3 owl:Class CL:0002047 biolink:NamedThing Fraction B precursor B cell A precursor B cell that is CD45RA-positive, CD43-positive, CD24-positive and BP-1-negative. tmpaxzxjjyw_mondo_relaxed.owl Fraction B|Fr. B Markers are commonly associated with mouse cells. These cells are also reportedly RAG1-positive and RAG2-positive. tmeehan 2010-04-28T11:56:21Z cell owl:Class CL:0002400 biolink:NamedThing Fraction B/C precursor B cell A precursor B cell that is AA4-positive, IgM-negative, CD19-positive, CD43-positive and HSA-positive. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-10-05T10:11:38Z cell owl:Class HGNC:1149 biolink:NamedThing BUB1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011616 biolink:NamedThing holoprosencephaly 6 A holoprosencephaly that has material basis in variation in the chromosome region 2q37.1-q37.3. tmpaxzxjjyw_mondo_relaxed.owl holoprosencephaly type 6|HPE6|holoprosencephaly 6 UMLS:C1853830|DOID:0110874|OMIM:605934|Orphanet:2162|MESH:C565274 owl:Class MONDO:0009018 biolink:NamedThing central cloudy dystrophy of François Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision. tmpaxzxjjyw_mondo_relaxed.owl central cloudy dystrophy of Francois|central cloudy corneal dystrophy of François|central cloudy dystrophy of François|corneal dystrophy, central type|CCDF SCTID:419074008|UMLS:C1622427|ICD10:H18.5|Orphanet:98972|OMIM:217600|MESH:C563262 owl:Class HGNC:5385 biolink:NamedThing IDH3B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015490 biolink:NamedThing predominantly small-vessel vasculitis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156146 owl:Class GO:0014061 biolink:NamedThing regulation of norepinephrine secretion Any process that modulates the frequency, rate or extent of the regulated release of norepinephrine. tmpaxzxjjyw_mondo_relaxed.owl regulation of noradrenaline secretion owl:Class GO:1903353 biolink:NamedThing regulation of nucleus organization Any process that modulates the frequency, rate or extent of nucleus organization. tmpaxzxjjyw_mondo_relaxed.owl regulation of nuclear organization|regulation of nuclear organisation|regulation of nucleus organization and biogenesis|regulation of nuclear morphology|regulation of nuclear organization and biogenesis owl:Class HGNC:19439 biolink:NamedThing KCNK18 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010380 biolink:NamedThing cataract, ataxia, short stature, and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl cataracts, ataxia, short stature, and mental retardation|Casm syndrome|cataract, ataxia, short stature, and mental retardation|cataracts, ataxia, short stature, and intellectual disability|cataract, ataxia, short stature, and intellectual disability MESH:C535345|GARD:0010222|UMLS:C1845094|OMIM:300619 owl:Class MONDO:0033652 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 17 tmpaxzxjjyw_mondo_relaxed.owl MC4DN17 OMIM:619061 owl:Class MONDO:0019555 biolink:NamedThing panniculitis and localized lipodystrophy tmpaxzxjjyw_mondo_relaxed.owl panniculitis-induced localized lipodystrophy UMLS:CN227651|ICD10:E88.1|Orphanet:90159 owl:Class MONDO:0020333 biolink:NamedThing aggressive systemic mastocytosis Aggressive systemic mastocytosis (ASM) is a severe and rare form of systemic mastocytosis (SM) characterized by considerable infiltration of mast cells in different tissues. tmpaxzxjjyw_mondo_relaxed.owl ASM|aggressive systemic mastocytosis (morphologic abnormality)|lymphadenopathic mastocytosis with eosinophilia UMLS:C1112486|Orphanet:98850|ICD10:C96.2|SCTID:716655008|ICDO:9741/3|DOID:4798|NCIT:C9285|ONCOTREE:ASM|MedDRA:10056453 owl:Class HGNC:44 biolink:NamedThing TAP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009035 biolink:NamedThing craniometaphyseal dysplasia, autosomal recessive Autosomal recessive form of craniometaphyseal dysplasia. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive craniometaphyseal dysplasia|craniometaphyseal dysplasia, autosomal recessive type|craniometaphyseal dysplasia, autosomal recessive|CMDR Orphanet:1522|GARD:0001582|OMIM:218400|MESH:C536570 owl:Class MONDO:0016447 biolink:NamedThing white fibrous papulosis of the neck White fibrous papulosis of the neck (WFPN) is a rare, acquired, dermal elastic tissue disorder characterized by multiple, 2-3 mm sized, non-confluent, asymptomatic, white or pale-colored, non-follicular, firm papular lesions occurring predominantly on the lateral or posterior aspects of the neck. Other, rarely reported sites include inferior axillae, central mid-back and upper sternal region. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226935|Orphanet:228290 owl:Class MONDO:0006419 biolink:NamedThing small intestinal intraepithelial neoplasia A precancerous neoplastic process that affects the small intestine. It is characterized by low or high grade dysplasia of the mucosal epithelium. There is no evidence of invasion. tmpaxzxjjyw_mondo_relaxed.owl small intestinal intraepithelial neoplasia|small intestinal dysplasia NCIT:C27462|UMLS:C1335999|EFO:1000536 owl:Class MONDO:0009230 biolink:NamedThing fibrosclerosis, multifocal tmpaxzxjjyw_mondo_relaxed.owl mediastinal fibrosis, familial|retroperitoneal fibrosis, familial|multifocal fibrosclerosis|fibrosclerosis, multifocal SCTID:111210001|Orphanet:49041|MESH:C537375|GARD:0005697|OMIM:228800|ICD10:M35.5|ICD9:710.8 owl:Class MONDO:0022037 biolink:NamedThing large-cell immunoblastic lymphoma Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan. tmpaxzxjjyw_mondo_relaxed.owl Large-Cell Immunoblastic Lymphoma|Immunoblastic Lymphomas, Large-Cell|Lymphomas, Immunoblastic Large-Cell|Immunoblastic Lymphoma, Large-Cell|Diffuse Immunoblastic Lymphosarcoma|LYMPHOMA LARGE IMMUNOBLASTIC|Immunoblastic Large-Cell Lymphomas|Large-Cell Lymphomas, Immunoblastic|Immunoblastomas|Sarcomas, Immunoblastic|Immunoblastoma|Lymphomas, Large-Cell Immunoblastic|Immunoblastic Sarcoma|Lymphoma, Large Cell, Immunoblastic|Large-Cell Immunoblastic Lymphomas|IMMUNOBLASTIC LARGE LYMPHOMA|Large Cell Immunoblastic Lymphoma|Immunoblastic Large Cell Lymphoma|Immunoblastic Lymphosarcomas, Diffuse|Lymphosarcomas, Diffuse Immunoblastic|Sarcoma, Immunoblastic|Lymphoma, Large-Cell, Immunoblastic|Large-Cell Lymphoma, Immunoblastic|Diffuse non-Hodgkin's lymphoma, immunoblastic (clinical)|Malignant lymphoma - immunoblastic|Lymphoma, Immunoblastic, Large-Cell|Diffuse non-Hodgkin's immunoblastic (diffuse) lymphoma|Immunoblastic malignant lymphoma - large cell|Diffuse non-Hodgkin lymphoma, immunoblastic|Diffuse Immunoblastic Lymphosarcomas|Large cell immunoblastic lymphoma|Immunoblastic Lymphosarcoma, Diffuse|Immunoblastic Sarcomas|Immunoblastic Lymphoma|Diffuse non-Hodgkin's lymphoma, immunoblastic|Immunoblastic Large-Cell Lymphoma|Lymphoma, Large-Cell Immunoblastic|LYMPHOMA IMMUNOBLASTIC LARGE|Lymphosarcoma, Diffuse Immunoblastic|Lymphoma, Immunoblastic Large-Cell|Lymphoma, immunoblastic, high grade|Lymphoma, Immunoblastic, Large Cell|LARGE IMMUNOBLASTIC LYMPHOMA GARD:0008219|MESH:D016400|UMLS:C0079746 owl:Class MONDO:0003945 biolink:NamedThing bone epithelioid hemangioma A locally aggressive hemangioma that arises from the bone. It is characterized by the presence of epithelioid endothelial cells. tmpaxzxjjyw_mondo_relaxed.owl bone epithelioid angioma|osseous epithelioid hemangioma|osseous hemangioma|epithelioid angioma of bone|osseous epithelioid angioma|epithelioid angioma of the bone|bone hemangioma|hemangioma of bone|epithelioid hemangioma of bone|epithelioid hemangioma of the bone|bone epithelioid hemangioma UMLS:C1332575|DOID:6610|EFO:1000132|UMLS:C1332578|NCIT:C5396 Editor note: DO classifies this as benign owl:Class UBERON:0015149 biolink:NamedThing ventral hair tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002006 biolink:NamedThing serous labyrinthitis A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. tmpaxzxjjyw_mondo_relaxed.owl acute serous labyrinthitis SCTID:41674001|ICD9:386.31|UMLS:C0155504|DOID:1467 owl:Class MONDO:0022453 biolink:NamedThing angiomyomatous hamartoma An uncommon benign proliferation of smooth muscle, blood vessels, collagenous stroma, and adipocytes, most commonly affecting inguinal lymph node. tmpaxzxjjyw_mondo_relaxed.owl GARD:0008313|UMLS:C2959445 https://rarediseases.info.nih.gov/diseases/8313/angiomyomatous-hamartoma owl:Class GO:0043292 biolink:NamedThing contractile fiber Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. tmpaxzxjjyw_mondo_relaxed.owl contractile fibre owl:Class MONDO:0044742 biolink:NamedThing autosomal recessive epidermolytic ichthyosis tmpaxzxjjyw_mondo_relaxed.owl AREI Orphanet:512103 owl:Class MONDO:0007239 biolink:NamedThing epidermolytic ichthyosis A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic. tmpaxzxjjyw_mondo_relaxed.owl bullous congenital ichthyosiform erythroderma|epidermolytic ichthyosis|epidermolytic hyperkeratosis|EHK|bullous erythroderma Ichthyosiformis congenita of Brocq|epidermolytic hyperkeratosis, late-onset|congenital bullous ichthyosiform erythroderma|ichthyosis hystrix Brocq type|BCIE|bullous ichthyosis|bullous congenital ichthyosiform erythroderma of Brock|bullous ichthyosiform erythroderma|autosomal dominant epidermolytic ichthyosis|epidermolytic palmoplantar hyperkeratosis|bullous ichthyosiform erythroderma congenita|EI MESH:D017488|OMIM:113800|NCIT:C62569|ICD10:Q80.3|Orphanet:312|GARD:0001039|SCTID:254167000|OMIM:607602|DOID:4603 Editor note: check this. Should there be a generic form as well as AD form? Form for each gene? owl:Class MONDO:0009030 biolink:NamedThing cranial nerves, recurrent paresis of tmpaxzxjjyw_mondo_relaxed.owl cranial nerves, recurrent paresis of OMIM:218200|MESH:C565672|UMLS:C1857530 owl:Class MONDO:0002599 biolink:NamedThing teratocarcinoma A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component. tmpaxzxjjyw_mondo_relaxed.owl teratocarcinoma (morphologic abnormality)|mixed embryonal carcinoma and teratoma|teratocarcinoma MESH:D018243|ICDO:9081/3|NCIT:C3756|UMLS:C0206664|DOID:3305 owl:Class MONDO:0021287 biolink:NamedThing carcinoma in situ of epiglottis A in situ carcinoma that involves the epiglottis. tmpaxzxjjyw_mondo_relaxed.owl epiglottis carcinoma in situ|stage 0 epiglottic carcinoma aJCC v6|Epiglottis carcinoma in situ|carcinoma in situ of the Epiglottis|stage 0 epiglottic throat cancer|epiglottic carcinoma in situ|stage 0 epiglottis carcinoma|stage 0 epiglottic carcinoma aJCC v6, v7, and v8|epiglottis in situ carcinoma|stage 0 epiglottic carcinoma|stage 0 epiglottic carcinoma aJCC v8|carcinoma in situ of epiglottis|stage 0 epiglottic carcinoma aJCC v7 SCTID:92584005|UMLS:C0347103|NCIT:C4592 owl:Class HGNC:23015 biolink:NamedThing FAM20A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012655 biolink:NamedThing myoclonic epilepsy, juvenile, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl EJM4|myoclonic epilepsy, juvenile, susceptibility to, 4 OMIM:611364|DOID:0111327|UMLS:C1969656|Orphanet:307 owl:Class MONDO:0007517 biolink:NamedThing ectrodactyly-cleft palate syndrome tmpaxzxjjyw_mondo_relaxed.owl ectrodactyly-cleft palate syndrome|Ecp syndrome UMLS:CN229012|UMLS:C1851848|Orphanet:1889|MESH:C565064|OMIM:129830 owl:Class PATO:0001374 biolink:NamedThing ploidy A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:MF_0000075 biolink:NamedThing mental quality A mental quality is a bodily quality that inheres in those structures of the extended organism that are essential for mental functioning. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021505 biolink:NamedThing benign neoplasm of endocardium A benign neoplasm that involves the endocardium. tmpaxzxjjyw_mondo_relaxed.owl benign endocardial neoplasm|endocardium benign neoplasm|benign tumor of the endocardium|benign endocardial tumor|benign tumor of endocardium|benign neoplasm of the endocardium SCTID:92083007|UMLS:C0347254|NCIT:C4608 owl:Class GO:1903296 biolink:NamedThing positive regulation of glutamate secretion, neurotransmission Any process that activates or increases the frequency, rate or extent of glutamate secretion, where glutamate acts as a neurotransmitter. tmpaxzxjjyw_mondo_relaxed.owl upregulation of glutamate secretion, neurotransmission|up-regulation of glutamate secretion, neurotransmission|activation of glutamate secretion, neurotransmission|up regulation of glutamate secretion, neurotransmission owl:Class MONDO:0023820 biolink:NamedThing Moebius axonal neuropathy hypogonadism tmpaxzxjjyw_mondo_relaxed.owl Moebius syndrome with hypogonadotrophic hypogonadism and progressive peripheral neuropathy axonal and demyelinating type GARD:0003698|MESH:C535806 https://rarediseases.info.nih.gov/diseases/3698/moebius-axonal-neuropathy-hypogonadism owl:Class MONDO:0004661 biolink:NamedThing trachea carcinoma in situ A carcinoma that arises from the tracheal mucosa and is confined to the epithelial layer without evidence of further tissue invasion. tmpaxzxjjyw_mondo_relaxed.owl carcinoma in situ of trachea|trachea in situ carcinoma|tracheal carcinoma in situ|carcinoma in situ of the trachea|severe epithelial dysplasia of trachea|stage 0 trachea carcinoma|trachea carcinoma in situ NCIT:C3639|UMLS:C0154070|SCTID:92772005|ICD9:231.1|ICD10:D02.1|DOID:8802 owl:Class MONDO:0015536 biolink:NamedThing papular xanthoma Papular xanthoma is a form of non-Langerhans cell histiocytosis characterized by cutaneous presentation of solitary or disseminated yellow to orange-brown papular or papulonodular, noncoalescent, asymptomatic skin lesions located predominantly on the head, neck, trunk and extremities (rarely on oral mucosa), in the presence of normolipidemia. Microscopically, the lesions consist of monomorphous infiltrate of xanthomatized macrophages and numerous Touton giant cells, with scant or absent inflammatory infiltrate. It is usually not associated with systemic disease. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199692|SCTID:765221009|Orphanet:158008|ICD10:D76.3 owl:Class CHEBI:76712 biolink:NamedThing EC 4.2.* (C-O lyase) inhibitor A lyase inhibitor which inhibits the action of a C-O lyase (EC 4.2.*.*). tmpaxzxjjyw_mondo_relaxed.owl C-O lyase (EC 4.2.*) inhibitor|EC 4.2.* inhibitor|EC 4.2.* inhibitors|EC 4.2.* (C-O lyase) inhibitors|C-O lyase inhibitor|C-O lyase (EC 4.2.*) inhibitors|C-O lyase inhibitors owl:Class UBERON:0010046 biolink:NamedThing entire pharyngeal arch associated mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17095 biolink:NamedThing LARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045921 biolink:NamedThing positive regulation of exocytosis Any process that activates or increases the frequency, rate or extent of exocytosis. tmpaxzxjjyw_mondo_relaxed.owl activation of exocytosis|up-regulation of exocytosis|stimulation of exocytosis|up regulation of exocytosis|upregulation of exocytosis owl:Class CHEBI:76775 biolink:NamedThing EC 3.1.3.* (phosphoric monoester hydrolase) inhibitor An EC 3.1.* (ester hydrolase) inhibitor that interferes with the action of any phosphoric monoester hydrolase (EC 3.1.3.*). tmpaxzxjjyw_mondo_relaxed.owl phosphoric monoester hydrolase (EC 3.1.3.*) inhibitors|inhibitors of phosphoric monoester hydrolase|phosphoric monoester hydrolase inhibitors|phosphoric monoester hydrolase inhibitor|phosphoric monoester hydrolase (EC 3.1.3.*) inhibitor|EC 3.1.3.* inhibitors|EC 3.1.3.* inhibitor|inhibitor of phosphoric monoester hydrolase|inhibitor of phosphoric monoester hydrolase (EC 3.1.3.*)|inhibitors of phosphoric monoester hydrolase (EC 3.1.3.*)|EC 3.1.3.* (phosphoric monoester hydrolase) inhibitors owl:Class MONDO:0042963 biolink:NamedThing wandering spleen A condition characterized by an abnormal spleen position due to loss, weakness, or malformation of one or more of the ligaments that hold the spleen in its normal position in the left upper abdomen. It may present as a birth defect or follow injuries or pregnancy. Signs and symptoms include abdominal discomfort and splenomegaly. tmpaxzxjjyw_mondo_relaxed.owl spleen, floating|splenic Ptoses|spleens, floating|spleen, displaced|spleens, displaced|floating spleens|spleen, wandering|Splenoptoses|floating spleen|drifting spleens|splenic ptosis|displaced spleen|spleen, drifting|splenoptosis|wandering spleens|ptosis, splenic|drifting spleen|wandering spleen|Ptoses, splenic|spleens, wandering|spleens, drifting|displaced spleens NCIT:C85224|MEDGEN:75782|UMLS:C0272414|GARD:0000328|MESH:D050805|SCTID:191384005 owl:Class GO:0006754 biolink:NamedThing ATP biosynthetic process The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. tmpaxzxjjyw_mondo_relaxed.owl ATP anabolism|ATP synthesis|ATP biosynthesis|ATP regeneration|ATP formation owl:Class UBERON:0018144 biolink:NamedThing cervical rib tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014583 biolink:NamedThing congenital myasthenic syndrome 3A A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37. tmpaxzxjjyw_mondo_relaxed.owl CMS3A|myasthenic syndrome, congenital, 3A, slow-channel|congenital myasthenic syndrome 3A, slow-channel|congenital myasthenic syndrome type 3A OMIM:616321|UMLS:C4225372|DOID:0110666|Orphanet:98913|Orphanet:590 owl:Class HP:0003076 biolink:NamedThing Glycosuria An increased concentration of glucose in the urine. tmpaxzxjjyw_mondo_relaxed.owl Glucosuria|Glucose in urine UMLS:C0017979|SNOMEDCT_US:45154002|MSH:D006029 Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. HP:0003122 human_phenotype owl:Class HP:0011016 biolink:NamedThing Abnormality of urine glucose concentration An abnormality of the concentration of glucose in the urine. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023596 peter 2011-02-21T11:09:32Z human_phenotype owl:Class MONDO:0006234 biolink:NamedThing grade III prostatic intraepithelial neoplasia High grade prostatic intraepithelial neoplasia characterized by the presence of severe architectural and cytologic abnormalities. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma in situ of prostate|prostate gland carcinoma in situ|grade 3 prostatic intraepithelial neoplasia|adenocarcinoma in situ of the prostate|prostate adenocarcinoma in situ|prostate carcinoma in situ|pin III|prostate gland in situ carcinoma|carcinoma in situ of prostate|stage 0 prostate gland carcinoma|carcinoma in situ of prostate gland|grade 3 pin|grade III pin NCIT:C3642|UMLS:C0154088|ICD9:233.4|SCTID:92691004|DOID:8634|EFO:1000283|ICD10:D07.5 owl:Class OBO:CHR_9606-chr6p22 biolink:NamedThing 6p22 (Human) tmpaxzxjjyw_mondo_relaxed.owl 30500000 15200000 hg38 owl:Class MONDO:0060621 biolink:NamedThing neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy|NDMSCA OMIM:617802|UMLS:C4540493 owl:Class MONDO:0000248 biolink:NamedThing dengue shock syndrome A dengue disease that involves the most severe form of dengue fever, has material basis in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom easy bruising, has symptom blood spots, has symptom bleeding gums, and has symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. tmpaxzxjjyw_mondo_relaxed.owl DSS SCTID:409671005|UMLS:C0376300|DOID:0050125|MESH:D019595 owl:Class MONDO:0004743 biolink:NamedThing hyperhomocysteinemia A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents. tmpaxzxjjyw_mondo_relaxed.owl homocysteinemia|hyperhomocysteinemia NCIT:C84770|SCTID:419503008|MESH:D020138|GARD:0008230|UMLS:C3495426|UMLS:C0598608|DOID:9279|OMIM:603174 https://github.com/monarch-initiative/mondo/issues/3247|https://rarediseases.info.nih.gov/diseases/8230/homocysteinemia owl:Class PO:0006210 biolink:NamedThing protoderm A portion of meristem tissue (PO:0009013) that is the outer layer of an apical meristem (PO:0020144), or the outer layer of a plant embryo proper (PO:0000001), and gives rise to a portion of epidermis (PO:0005679). tmpaxzxjjyw_mondo_relaxed.owl dermatogen cell (related)|protodermis (Spanish, exact)|前表皮、原表皮 (Japanese, exact)|portion of protoderm tissue (exact) PO_GIT:125 A protoderm may or may not arise from independent initial cells (PO:0004011). Some researchers also refer to it as an epidermis in a meristematic state. plant_anatomy owl:Class MONDO:0013393 biolink:NamedThing distal 7q11.23 microdeletion syndrome Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression). tmpaxzxjjyw_mondo_relaxed.owl distal del(7)(q11.23)|distal chromosome 7Q11.23 deletion syndrome|distal monosomy 7q11.23|chromosome 7q11.23 deletion syndrome, distal, 1.2-MB UMLS:C3150999|ICD10:Q93.5|Orphanet:254351|OMIM:613729 owl:Class NCBITaxon:84526 biolink:NamedThing Heterophyidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6194 biolink:NamedThing Opisthorchiata tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000343 biolink:NamedThing Barmah forest virus disease A disease caused by infection with Barmah Forest virus. tmpaxzxjjyw_mondo_relaxed.owl Barmah Forest virus infectious disease|Barmah Forest virus disease or disorder|Barmah Forest virus caused disease or disorder DOID:0050517 owl:Class UBERON:0013498 biolink:NamedThing vestibulo-cochlear VIII ganglion complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0034146 biolink:NamedThing spastic ataxia-dysarthria due to glutaminase deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:557056 owl:Class MONDO:0003789 biolink:NamedThing hereditary papillary renal cell carcinoma A familial carcinoma inherited in an autosomal dominant trait. It is characterized by the development of multiple, bilateral papillary renal cell carcinomas. The carcinomas range from microscopic lesions to clinically symptomatic tumors. It is associated with activating mutations of the MET oncogene. tmpaxzxjjyw_mondo_relaxed.owl hereditary papillary renal carcinoma|hereditary papillary renal cell cancer|hereditary papillary carcinoma of kidney|hereditary papillary carcinoma of the kidney|hereditary papillary renal cell carcinoma|familial renal papillary carcinoma|hereditary kidney papillary carcinoma Orphanet:47044|DOID:6163|SCTID:715561008|OMIM:605074|NCIT:C9222|UMLS:C0879257 owl:Class GO:0070293 biolink:NamedThing renal absorption A renal system process in which water, ions, glucose and proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686). tmpaxzxjjyw_mondo_relaxed.owl renal reabsorption|nephron absorption owl:Class ENVO:01001040 biolink:NamedThing saline environment An environment which is determined by materials which bear significant concentrations of salts. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017562 biolink:NamedThing congenital patella dislocation, unilateral tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q74.1|Orphanet:295234 owl:Class MONDO:0017471 biolink:NamedThing congenital patella dislocation tmpaxzxjjyw_mondo_relaxed.owl congenital patellar dislocation|congenital dislocation of the patella Orphanet:295036|SCTID:205067002|ICD10:Q74.1|GARD:0009692|MESH:C538081 https://rarediseases.info.nih.gov/diseases/9692/congenital-dislocation-of-the-patella owl:Class MONDO:0007212 biolink:NamedThing brachydactyly-long thumb syndrome Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981. tmpaxzxjjyw_mondo_relaxed.owl long-thumb brachydactyly syndrome|brachydactyly long thumb type|brachydactyly, long-thumb type|brachydactyly, long thumb type SCTID:733454004|UMLS:C1862169|MESH:C566204|ICD10:Q87.2|OMIM:112430|Orphanet:2946|GARD:0000968 https://rarediseases.info.nih.gov/diseases/968/brachydactyly-long-thumb-type owl:Class MONDO:0004937 biolink:NamedThing hypervitaminosis D tmpaxzxjjyw_mondo_relaxed.owl hypervitaminosis type D SCTID:27712000|DOID:9971|ICD9:278.4|UMLS:C1442839|ICD10:E67.3 owl:Class MONDO:0010482 biolink:NamedThing X-linked parkinsonism-spasticity syndrome X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. tmpaxzxjjyw_mondo_relaxed.owl XPDS|PARKINSONISM with spasticity, X-linked Orphanet:363654|UMLS:C3806722|OMIM:300911|ICD10:G20 owl:Class MONDO:0007642 biolink:NamedThing isolated agenesis of gallbladder tmpaxzxjjyw_mondo_relaxed.owl gallbladder, agenesis OF Orphanet:440987|OMIM:137040|MESH:C562564|ICD10:Q44.0 owl:Class MONDO:0011716 biolink:NamedThing acute hemorrhagic leukoencephalitis Acute hemorrhagic leukoencephalitis(AHL) is a veryrareform of acute disseminated encephalomyelitis that usuallyresults indeath. It is characterized by a brief but intense attack of inflammation in the brain and spinal cord that damages the myelin -- the protective covering of the nerve fibers. It may also cause bleeding in the brain, leading to damage of the white matter. Symptoms usually come on quickly, beginning with symptoms such as fever, neck stiffness, fatigue, headache, nausea vomiting,seizures, and coma.AHL has a very poor prognosis, with rapid deterioration and death usually occurring within days to one week after onset of symptoms because of severe inflammation in the brain. Although the exact cause is unclear,AHL usually followsaviral infection, or less often, vaccination for measles, mumps, or rubella. Some researchers think that an infection or vaccination can initiate an autoimmune process in the body thus leading to AHL. tmpaxzxjjyw_mondo_relaxed.owl Weston-Hurst syndrome|Ahl|AHLE|AHL|acute hemorrhagic leukoencephalitis|acute hemorrhagic encephalomyelitis|acute haemorrhagic leucoencephalitis of Weston Hurst|acute necrotizing hemorrhagic leukoencephalitis SCTID:72986009|GARD:0008629|ICD9:136.9|EFO:0007132|UMLS:C0014077|MESH:D004684|DOID:10992|OMIM:606752|NCIT:C84535 https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis owl:Class MONDO:0012200 biolink:NamedThing posterior polymorphous corneal dystrophy 3 Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the ZEB1 gene. tmpaxzxjjyw_mondo_relaxed.owl posterior polymorphous corneal dystrophy type 3|Ppcd3|corneal dystrophy, posterior polymorphous, type 3|corneal dystrophy, POSTERIOR polymorphous, 3|posterior polymorphous corneal dystrophy caused by mutation in ZEB1|ZEB1 posterior polymorphous corneal dystrophy|PPCD3 ICD10:H18.50|Orphanet:98973|UMLS:C1836724|DOID:0110857|OMIM:609141|MESH:C563788 owl:Class NCBITaxon:2842242 biolink:NamedThing Ribozyviria tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006838 biolink:NamedThing lupus vulgaris A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal mucosa; buccal mucosa; and conjunctival mucosa. tmpaxzxjjyw_mondo_relaxed.owl EFO:1001023|MedDRA:10025143|UMLS:C0024131|MESH:D008177|SCTID:10528009 owl:Class CL:0008000 biolink:NamedThing non-striated muscle cell Any muscle cell in which the fibers are not organised into sarcomeres. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0140375 biolink:NamedThing immune receptor activity Receiving a signal and transmitting it in a cell to initiate an immune response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019013 biolink:NamedThing non-histaminic angioedema Angioedema is characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. tmpaxzxjjyw_mondo_relaxed.owl angioneurotic edema|non histamine-induced angioedema|bradykinine-induced angioedema Orphanet:658|ICD9:995.1|SCTID:41291007|UMLS:CN227560 owl:Class MONDO:0012913 biolink:NamedThing Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome A sub-phenotype of WAGR that includes obesity, and is associated with mutation(s) in the BDNF gene. tmpaxzxjjyw_mondo_relaxed.owl Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome|Wilms tumor-aniridia-genitourinary anomalies-intellectual disability-obesity syndrome|Wagro syndrome|WAGRO|Wilms tumor-aniridia-genitourinary anomalies-mental retardation-obesity syndrome|WAGR syndrome with obesity|chromosome 11P13-p12 deletion syndrome|Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome NCIT:C122804|UMLS:C2675904|MESH:C567292|Orphanet:893|OMIM:612469 owl:Class MONDO:0018757 biolink:NamedThing supratip dysplasia Supratip dysplasia is a rare, congenital, non-syndromic, nose and cavum malformation characterized by the presence of a bulbous, soft tissue hypertrophy located in the middle-to-distal third of the nasal dorsum, in association with deformed, slightly laterally- and caudally-placed nasal alae and a scar-like atrophic skin lesion located at the nasal tip. Respiratory function is not affected. tmpaxzxjjyw_mondo_relaxed.owl ICD10:J34.8|Orphanet:466695 owl:Class SO:0001877 biolink:NamedThing lncRNA A non-coding RNA over 200nucleotides in length. tmpaxzxjjyw_mondo_relaxed.owl long non-coding RNA|INSDC_qualifier:lncRNA|lncRNA_transcript|INSDC_feature:ncRNA owl:Class HP:0000951 biolink:NamedThing Abnormality of the skin An abnormality of the skin. tmpaxzxjjyw_mondo_relaxed.owl dermatopathy|Skin abnormality|dermopathy|Abnormality of the skin MSH:D012871|SNOMEDCT_US:199879009|UMLS:C0037268|UMLS:C0037274|SNOMEDCT_US:95320005|MSH:D012868 HP:0001479|HP:0006736|HP:0007580|HP:0007415|HP:0005591|HP:0001478 human_phenotype owl:Class MONDO:0008669 biolink:NamedThing vulvovaginitis, allergic seminal tmpaxzxjjyw_mondo_relaxed.owl vulvovaginitis, allergic seminal MESH:C565993|OMIM:193450|UMLS:C1860357 owl:Class MONDO:0018143 biolink:NamedThing pyruvate carboxylase deficiency, benign type Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development. tmpaxzxjjyw_mondo_relaxed.owl pyruvate carboxylase deficiency type C UMLS:CN204540|Orphanet:353320|ICD10:E74.4|OMIM:266150 owl:Class MONDO:0045072 biolink:NamedThing ectopic hormone secretion syndrome associated with neoplasia Abnormal secretion of hormones in conjunction with neoplastic growth occurring anywhere in the body. tmpaxzxjjyw_mondo_relaxed.owl ectopic hormone secretion syndrome associated with neoplasia|neoplasm associated ectopic hormone secretion syndrome UMLS:C0851689|NCIT:C4065 https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0001731 biolink:NamedThing benign vaginal mixed epithelial and mesenchymal neoplasm A non-metastasizing neoplasm that arises from the vagina and is characterized by the presence of benign epithelial and benign mesenchymal elements. tmpaxzxjjyw_mondo_relaxed.owl benign vaginal carcinosarcoma|benign vaginal mixed epithelial and mesenchymal neoplasm|benign vaginal mixed epithelial and mesenchymal tumor UMLS:C1511106|NCIT:C40275|DOID:135 owl:Class MONDO:0044982 biolink:NamedThing drug pseudoallergy tmpaxzxjjyw_mondo_relaxed.owl drug pseudoallergy|drug allergy UMLS:C3662272|SCTID:609398007 owl:Class MONDO:0044981 biolink:NamedThing pseudoallergy tmpaxzxjjyw_mondo_relaxed.owl pseudoallergy to substance ICD9:V15.09|UMLS:C3662273|SCTID:609397002 owl:Class MONDO:0003291 biolink:NamedThing leiomyoma cutis A benign smooth muscle neoplasm arising from the arrector pili muscle, tunica media of blood vessels, and dartos muscle of the genitalia. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of zone of skin|skin leiomyoma|leiomyoma of skin|leiomyoma of the skin|zone of skin leiomyoma|cutaneous (skin) leiomyoma|cutaneous leiomyoma|leiomyoma cutis UMLS:C0346064|SCTID:254767008|NCIT:C4482|DOID:5132 owl:Class NCBITaxon:2732405 biolink:NamedThing Duplornaviricota tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012585 biolink:NamedThing coronary heart disease, susceptibility to, 7 Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene. tmpaxzxjjyw_mondo_relaxed.owl CHDS7|coronary heart disease, susceptibility to, type 7|susceptibility to coronary heart disease 7|CD36 coronary artery disease|coronary artery disease caused by mutation in CD36|coronary heart disease, susceptibility to, 7 OMIM:610938 owl:Class MONDO:0011868 biolink:NamedThing lethal congenital contracture syndrome 2 Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported. tmpaxzxjjyw_mondo_relaxed.owl LCCS2|lethal congenital contracture syndrome type 2|multiple contracture syndrome, Israeli Bedouin type|lethal congenital contracture syndrome caused by mutation in ERBB3|multiple contracture syndrome, Israeli-Bedouin type|lethal congenital contracture syndrome 2|ERBB3 lethal congenital contracture syndrome|multiple contracture syndrome, Israeli Bedouin type a Orphanet:137776|OMIM:607598|GARD:0009177|Orphanet:137783|UMLS:C1843478|MESH:C564369|SCTID:715419004|DOID:0060560|ICD10:Q68.8|UMLS:C4275145 https://rarediseases.info.nih.gov/diseases/9177/lethal-congenital-contracture-syndrome-2 owl:Class MONDO:0003870 biolink:NamedThing childhood brainstem astrocytoma An astrocytoma that arises from the brain stem and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood brainstem astrocytoma|pediatric brain stem astrocytic neoplasm|childhood brain stem astrocytic neoplasm|childhood brain stem astrocytoma|brain stem astrocytic neoplasm of childhood DOID:6386|NCIT:C6216|UMLS:C1332950 owl:Class MONDO:0015556 biolink:NamedThing nodular urticaria pigmentosa tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q82.2|Orphanet:158772 owl:Class MONDO:0018581 biolink:NamedThing progressive encephalomyelitis with rigidity and myoclonus tmpaxzxjjyw_mondo_relaxed.owl perm UMLS:C1861457|GARD:0013110|Orphanet:438266|OMIM:184850|ICD10:G04.8 https://rarediseases.info.nih.gov/diseases/13110/progressive-encephalomyelitis-with-rigidity-and-myoclonus owl:Class MONDO:0001198 biolink:NamedThing acquired thrombocytopenia An instance of thrombocytopenia that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl secondary thrombocytopenia|acquired thrombocytopenia DOID:11126|ICD10:D69.5|ICD9:287.4|SCTID:74576004|UMLS:C0154301 owl:Class MONDO:0023017 biolink:NamedThing duplication of the thumb unilateral biphalangeal tmpaxzxjjyw_mondo_relaxed.owl GARD:0001977 https://rarediseases.info.nih.gov/diseases/1977/duplication-of-the-thumb-unilateral-biphalangeal owl:Class MONDO:0008211 biolink:NamedThing pseudoleprechaunism syndrome, Patterson type Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. tmpaxzxjjyw_mondo_relaxed.owl Patterson's leprechaunoid syndrome|Patterson syndrome|Patterson pseudoleprechaunism syndrome GARD:0004259|MESH:C536310|OMIM:169170|UMLS:C1868546|Orphanet:2976|ICD10:E34.8 owl:Class MONDO:0010410 biolink:NamedThing alopecia, androgenetic, 2 tmpaxzxjjyw_mondo_relaxed.owl alopecia, androgenetic, 2|AGA2 UMLS:C2678038|OMIM:300710|MESH:C567473 owl:Class MONDO:0015371 biolink:NamedThing linear atrophoderma of Moulin Linear atrophoderma of Moulin (LAM) is characterized by mildly atrophic and hyperpigmented band-like lesions that follow the lines of Blaschko on the trunk or limbs. Since its initial description in 1992, less than 30 cases have been reported in the literature. Onset occurs during childhood or adolescence and the disease is non-progressive. There is no prior inflammation or subsequent scleroderma. The aetiology is unknown but as LAM follows the lines of Blaschko it has been suggested that the disease is caused by mosaicism of a predisposing gene. tmpaxzxjjyw_mondo_relaxed.owl SCTID:403395007|ICD10:L90.8|Orphanet:140933|UMLS:C1274753 owl:Class MONDO:0015860 biolink:NamedThing anomaly of puberty or/and menstrual cycle tmpaxzxjjyw_mondo_relaxed.owl Orphanet:180208 owl:Class HGNC:9325 biolink:NamedThing PPT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100281 biolink:NamedThing macroglobulinemia, Waldenstrom, 1 tmpaxzxjjyw_mondo_relaxed.owl WM1|macroglobulinemia, Waldenstrom, somatic|macroglobulinemia, waldenstrom, susceptibility to, 1 OMIM:153600 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0010333 biolink:NamedThing extraembryonic membrane mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032939 biolink:NamedThing intellectual developmental disorder, autosomal dominant 63, with macrocephaly tmpaxzxjjyw_mondo_relaxed.owl MRD63|Mental Retardation, Autosomal Dominant 63, With Macrocephaly|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY OMIM:618825 owl:Class CL:0000352 biolink:NamedThing epiblast cell A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0000052 biolink:NamedThing totipotent stem cell A stem cell from which all cells of the body can form. tmpaxzxjjyw_mondo_relaxed.owl totipotential stem cell FMA:84790 cell owl:Class UBERON:0003844 biolink:NamedThing upper eyelid epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013012 biolink:NamedThing inflammatory bowel disease 27 An inflammatory bowel disease that has material basis in variation in the chromosome region 13q13.3 tmpaxzxjjyw_mondo_relaxed.owl IBD27|inflammatory bowel disease type 27|inflammatory bowel disease 27 DOID:0110902|OMIM:612796|UMLS:C2748550|MESH:C567559 owl:Class MONDO:0011746 biolink:NamedThing symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch tmpaxzxjjyw_mondo_relaxed.owl distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch|symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch MESH:C538148|UMLS:C1847185|OMIM:606895|GARD:0008554 https://rarediseases.info.nih.gov/diseases/8554/symphalangism-distal-with-microdontia-dental-pulp-stones-and-narrowed-zygomatic-arch owl:Class MONDO:0016707 biolink:NamedThing astroblastoma Astroblastoma is a very rare glial neoplasm of the central nervous system, most often with an intra-axial peripheral supratentorial location in one hemisphere of the frontal or parietal lobes and usually presenting in infants and young adults with symptoms of vomiting, loss of consciousness, epileptic seizures and headaches. tmpaxzxjjyw_mondo_relaxed.owl astroblastoma|AstB|astroblastoma (morphologic abnormality)|cerebral astroblastoma ICDO:9430/3|Orphanet:251679|MESH:D018302|UMLS:C0334587|ICD10:C71.9|ONCOTREE:ASTB|DOID:7305|GARD:0010635|NCIT:C4324 https://rarediseases.info.nih.gov/diseases/10635/astroblastoma owl:Class MONDO:0003670 biolink:NamedThing posteroinferior myocardial infarction An electrocardiographic finding of an injury in leads corresponding to the anatomic region of the posteroinferior wall of the heart. tmpaxzxjjyw_mondo_relaxed.owl posteroinferior myocardial infarction by EKG finding|posteroinferior myocardial infarction by ECG finding DOID:5843|NCIT:C36068 Editor note: TODO: positional superclass owl:Class MONDO:0015632 biolink:NamedThing FASTKD2-related infantile mitochondrial encephalomyopathy tmpaxzxjjyw_mondo_relaxed.owl ICD10:G71.3|Orphanet:166105 owl:Class GO:0009746 biolink:NamedThing response to hexose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to hexose stimulus owl:Class UBERON:0003727 biolink:NamedThing intercostal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0019211 biolink:NamedThing phosphatase activator activity Binds to and increases the activity of a phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017670 biolink:NamedThing autosomal dominant diffuse mutilating palmoplantar keratoderma tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant diffuse mutilating palmoplantar hyperkeratosis Orphanet:307773|UMLS:CN229100|ICD10:Q82.8 owl:Class UBERON:0002089 biolink:NamedThing thoracodorsal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044916 biolink:NamedThing extrarenal rhabdoid tumor A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl rhabdoid tumor of soft tissue|extrarenal rhabdoid tumor|malignant extrarenal rhabdoid neoplasm NCIT:C6586|SCTID:404089007|UMLS:C1304517 owl:Class MONDO:0011562 biolink:NamedThing autosomal dominant Parkinson disease 4 A late onset Parkinson disease that has material basis in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22. tmpaxzxjjyw_mondo_relaxed.owl Parkinson disease 4, autosomal dominant Lewy body|autosomal dominant Parkinson disease type 4|autosomal dominant Lewy body Parkinson disease 4|Parkinson disease 4, autosomal dominant|autosomal dominant Parkinson's disease 4|PARK4|autosomal dominant Parkinson disease 4 ICD10:G20|DOID:0060895|UMLS:C1854182|Orphanet:411602|OMIM:605543|MESH:C565324 owl:Class MONDO:0002301 biolink:NamedThing frontal sinus squamous cell carcinoma A squamous cell carcinoma that arises from the mucosal epithelial surface of the frontal sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of the frontal sinus|frontal sinus squamous cell carcinoma|epidermoid carcinoma of the frontal sinus|epidermoid carcinoma of frontal sinus|frontal sinus epidermoid carcinoma|squamous cell carcinoma of frontal sinus NCIT:C6067|SCTID:707356001|UMLS:C1333646|DOID:2441 owl:Class HGNC:17022 biolink:NamedThing HPS5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020352 biolink:NamedThing multiple system atrophy, parkinsonian type Multiple system atrophy, parkinsonian type (MSA-p) is a form of multiple system atrophy (MSA) with predominant parkinsonian features (bradykinesia, rigidity, irregular jerky postural tremor, and postural instability). tmpaxzxjjyw_mondo_relaxed.owl MSA-p|MSA, parkinsonian type UMLS:CN207200|Orphanet:98933|ICD10:G23.2 owl:Class CL:0002123 biolink:NamedThing B220-low CD38-positive IgG-negative class switched memory B cell A B220-low CD38-positive IgG-negative memory B cell is a CD38-positive IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype B220-low, CD38-positive, and IgG-positive. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0010809 biolink:NamedThing familial chronic myelocytic leukemia-like syndrome A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). tmpaxzxjjyw_mondo_relaxed.owl familial CML-like syndrome|CML-like syndrome, familial|myelocytic leukemia-like syndrome, familial, chronic MESH:C536093|GARD:0010141|OMIM:600080|DOID:0060761|UMLS:C1838670 https://rarediseases.info.nih.gov/diseases/10141/myelocytic-leukemia-like-syndrome-familial-chronic owl:Class MONDO:0014046 biolink:NamedThing Cowden syndrome 4 Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene. tmpaxzxjjyw_mondo_relaxed.owl Cowden syndrome 4|Cowden disease caused by mutation in KLLN|CWS4|KLLN Cowden disease|Cowden syndrome type 4 OMIM:615107|UMLS:C3554517|Orphanet:201 owl:Class UBERON:0005764 biolink:NamedThing acellular membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0020064 biolink:NamedThing Abnormal eosinophil count Any deviation from the normal number of eosinophils per volume in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl 2018-10-17 13:48:52+00:00 robinp human_phenotype owl:Class CHEBI:36699 biolink:NamedThing corticosteroid hormone Any of a class of steroid hormones that are produced in the adrenal cortex. tmpaxzxjjyw_mondo_relaxed.owl adrenal cortex hormones|corticosteroid hormones owl:Class CHEBI:26764 biolink:NamedThing steroid hormone Any steroid that acts as hormone. tmpaxzxjjyw_mondo_relaxed.owl steroid hormones|hormonas esteroideas|Steroidhormone|hormones steroides|Steroidhormon|hormona esteroide|hormone steroide owl:Class MONDO:0011793 biolink:NamedThing celiac disease, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl CELIAC5|celiac disease, susceptibility to, 5|gluten-sensitive enteropathy, susceptibility to, 5|GSES OMIM:607202 owl:Class MONDO:0015584 biolink:NamedThing febrile infection-related epilepsy syndrome Febrile infection-related epilepsy syndrome (FIRES) describes an explosive-onset, potentially fatal acute epileptic encephalopathy that develops in previously healthy children and adolescents following the onset of a non-specific febrile illness. tmpaxzxjjyw_mondo_relaxed.owl idiopathic catastrophic epileptic encephalopathy|devastating epileptic encephalopathy in school-aged children|severe refractory status epilepticus owing to presumed encephalitis|AERRPS|DESC syndrome|status epilepticus owing to presumed encephalitis|acute non-herpetic encephalitis with severe refractory status epilepticus|FIRES|acute encephalitis with refractory repetitive partial seizures|fever-induced refractory epileptic encephalopathy in school-aged children Orphanet:163703|ICD10:G40.5|GARD:0011005|SCTID:725413002|UMLS:CN199955 https://rarediseases.info.nih.gov/diseases/11005/febrile-infection-related-epilepsy-syndrome owl:Class MONDO:0020511 biolink:NamedThing precursor B-cell acute lymphoblastic leukemia The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl B-cell type acute leukemia|B-cell lymphoblastic leukemia|precursor B-cell acute lymphocytic leukemia|acute B cell lymphocytic leukemia|acute B-cell lymphocytic leukemia|B-cell Acute Lymphoblastic Leukemia|B cell acute lymphocytic leukemia|precursor B-cell acute lymphocytic leukemia/lymphoma|precursor B-lymphoblastic leukemia (B-precursor ALL)|precursor B-cell acute lymphoblastic leukemia/lymphoma|B acute lymphoblastic leukemia|B-cell acute lymphoblastic leukemia|precursor B-lymphoblastic leukemia|B-ALL|B-precursor ALL|B cell precursor type acute leukemia|B-cell precursor type acute leukemia|B-cell acute lymphocytic leukemia ICD10:C91.0|OMIM:615545|Orphanet:99860|ICDO:9836/3|NCIT:C8644|ICD10:C83.5|UMLS:C0006413 owl:Class MONDO:0019858 biolink:NamedThing idiopathic congenital hypothyroidism Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:95717|SCTID:717334008|ICD10:E03.1|UMLS:C4273913 owl:Class MONDO:0030330 biolink:NamedThing cardiomyopathy, familial restrictive, 6 tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, familial restrictive, 6|RCM6 OMIM:619433 owl:Class MONDO:0002313 biolink:NamedThing vernal conjunctivitis Inflammation of the cornea that is seasonal in nature. tmpaxzxjjyw_mondo_relaxed.owl ICD9:372.13|SCTID:318316003|DOID:2474|ICD10:H10.44|NCIT:C34508|UMLS:C0009773 owl:Class MONDO:0011072 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 2 tmpaxzxjjyw_mondo_relaxed.owl NIDDM2|noninsulin-dependent diabetes mellitus 2|diabetes mellitus, noninsulin-dependent, 2 UMLS:C1832387|OMIM:601407|MESH:C563323 owl:Class PATO:0002182 biolink:NamedThing molecular quality A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc. tmpaxzxjjyw_mondo_relaxed.owl relational molecular quality owl:Class MONDO:0007569 biolink:NamedThing erythema nodosum, familial tmpaxzxjjyw_mondo_relaxed.owl familial erythema nodosum|erythema nodosum, familial GARD:0009259|OMIM:132990|MESH:C535510|UMLS:C1851503 https://rarediseases.info.nih.gov/diseases/9259/familial-erythema-nodosum owl:Class GO:0098771 biolink:NamedThing inorganic ion homeostasis Any process involved in the maintenance of an internal steady state of inorganic ions within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009769 biolink:NamedThing oculo-palato-cerebral syndrome Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. tmpaxzxjjyw_mondo_relaxed.owl oculopalatocerebral dwarfism|oculopalatocerebral syndrome|oculo-palato-cerebral dwarfism|OPC dwarfism SCTID:722055008|MESH:C564935|Orphanet:2714|UMLS:C1850338|OMIM:257910|ICD10:Q87.1 owl:Class MONDO:0008830 biolink:NamedThing aspartylglucosaminuria Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis). tmpaxzxjjyw_mondo_relaxed.owl aspartylglucosaminidase deficiency|Aspartylglucosamidase (AGA) deficiency|aspartylglucosaminuria|Glycoasparaginase|AGU|aspartylglycosaminuria|glycosylasparaginase deficiency|Aga deficiency ICD10:E77.1|MESH:D054880|Orphanet:93|DOID:0050461|OMIM:208400|NCIT:C61273|SCTID:54954004|GARD:0005854|MedDRA:10068220|UMLS:C0268225 owl:Class UBERON:0012418 biolink:NamedThing respiratory system venous smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006611 biolink:NamedThing skin sarcoidosis Formation of non-necrotizing granulomas in the skin. It may be a manifestation of systemic sarcoidosis or may also arise in isolation. tmpaxzxjjyw_mondo_relaxed.owl sarcoidosis of zone of skin|cutaneous sarcoidosis|cutaneous sarcoid|zone of skin sarcoidosis SCTID:55941000|DOID:13402|ICD10:D86.3|NCIT:C34996|UMLS:C0036203|Wikipedia:Cutaneous_manifestations_of_sarcoidosis|EFO:1000767 owl:Class MONDO:0008556 biolink:NamedThing thrombocytopenia, cyclic tmpaxzxjjyw_mondo_relaxed.owl thrombocytopenia, cyclic|thrombocytopenia cyclic|cyclic thrombocytopenia OMIM:188020|MESH:C536899|ICD9:287.39|UMLS:C0272282|GARD:0009862|SCTID:48788004 https://rarediseases.info.nih.gov/diseases/9862/cyclic-thrombocytopenia owl:Class MONDO:0044744 biolink:NamedThing prekallikrein deficiency A condition characterized by the congenital or acquired deficiency of prekallikrein. This deficiency is usually not associated with bleeding. The congenital deficiency is very rare. Acquired deficiency may occur in diffuse intravascular coagulation, infections, and sickle cell disease. tmpaxzxjjyw_mondo_relaxed.owl prekallikrein deficiency SCTID:48976006|NCIT:C99022 owl:Class GO:0060786 biolink:NamedThing regulation of cell differentiation involved in tissue homeostasis Any process that modulates the frequency, rate or extent of cell differentiation that contributes to the maintenance of a steady state of a cell type within a tissue. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006770 biolink:NamedThing giant cell reparative granuloma A rare tumor-like lesion of the hands and feet characterized by the presence of hemorrhagic fibrous tissue, hemosiderin deposition, osteoclast-like giant cells which are irregularly distributed, and reactive bone formation. Pain and swelling are the most frequent symptoms. It may recur following curettage, but is usually cured after a second procedure. tmpaxzxjjyw_mondo_relaxed.owl central giant cell reparative granuloma of jaw|central giant cell (reparative) granuloma|GCLSB|central giant cell granuloma|giant cell lesion of small bones SCTID:15350006|EFO:1000950|ICD9:526.3|ICD10:M27.1|UMLS:C0162375|DOID:1866|MESH:D006101|NCIT:C121893 owl:Class MONDO:0005674 biolink:NamedThing bone giant cell tumor A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint. tmpaxzxjjyw_mondo_relaxed.owl giant cell tumor of bone|giant cell neoplasm of bone|GCT of bone|giant cell tumor, benign|Osteoclastoma, benign|osteoclastoma|benign bone giant cell tumor|giant cell tumor of bone (morphologic abnormality)|giant cell tumor of bone NOS (morphologic abnormality)|giant cell myeloma|giant cell tumor of the bone ONCOTREE:GCTB|HP:0011847|MESH:D018212|UMLS:C0206638|DOID:4305|NCIT:C121932|Orphanet:363976|SCTID:697970009|EFO:0007176|ICD10:D48.0|GARD:0013046 MONDO:0018219 owl:Class MONDO:0019130 biolink:NamedThing tubular renal disease-cardiomyopathy syndrome A syndrome characterised by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl ICD10:N25.8|UMLS:CN205654|Orphanet:73224 https://github.com/monarch-initiative/mondo/issues/324 owl:Class MONDO:0004500 biolink:NamedThing lung superior sulcus carcinoma A carcinoma originating from the apical lung. Most superior sulcus lung carcinomas are bronchogenic carcinomas. This carcinoma may be associated with Pancoast syndrome. lt is also known as Pancoast tumor. tmpaxzxjjyw_mondo_relaxed.owl superior sulcus carcinoma of lung|superior sulcus lung carcinoma|superior sulcus carcinoma of the lung UMLS:C1336529|NCIT:C7779|DOID:8208 owl:Class MONDO:0009918 biolink:NamedThing fundus dystrophy, pseudoinflammatory, recessive form tmpaxzxjjyw_mondo_relaxed.owl Pfd, Finnish type|Pfd, Lavia type|fundus dystrophy, pseudoinflammatory recessive form|fundus dystrophy, pseudoinflammatory, recessive form|pseudoinflammatory fundus dystrophy|PFD Lavia type MESH:C535828|Orphanet:59181|OMIM:264420|GARD:0009633|UMLS:C1849694 owl:Class MONDO:0007640 biolink:NamedThing Sorsby fundus dystrophy A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness. tmpaxzxjjyw_mondo_relaxed.owl pseudoinflammatory fundus dystrophy of Sorsby|Sorsby fundus dystrophy|Sorsby pseudoinflammatory fundus dystrophy|SFD|Sorsby's fundus dystrophy|fundus dystrophy, pseudoinflammatory, of Sorsby|hemorrhagic macular dystrophy|Sorsby's pseudoinflammatory macular dystrophy|macular dystrophy, hemorrhagic DOID:0090114|Orphanet:59181|OMIM:264420|MESH:C564992|OMIM:136900|SCTID:193410003|ICD10:H35.5|GARD:0010511 owl:Class MONDO:0013585 biolink:NamedThing hydrolethalus syndrome 2 Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene. tmpaxzxjjyw_mondo_relaxed.owl HLS2|hydrolethalus syndrome 2|KIF7 hydrolethalus syndrome|hydrolethalus syndrome caused by mutation in KIF7|hydrolethalus syndrome type 2 DOID:0111356|Orphanet:2189|UMLS:C3279899|OMIM:614120 owl:Class MONDO:0033654 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 19 tmpaxzxjjyw_mondo_relaxed.owl MC4DN19 OMIM:619063 owl:Class UBERON:0010428 biolink:NamedThing flat bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010307 biolink:NamedThing intellectual disability, X-linked 73 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked 73|MRX73|mental retardation, X-linked 73 OMIM:300355|UMLS:C1845860|MESH:C564528 owl:Class MONDO:0007311 biolink:NamedThing Charcot-Marie-Tooth disease type 1E A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. tmpaxzxjjyw_mondo_relaxed.owl CMT 1E|autosomal dominant Charcot-Marie-Tooth neuropathy and deafness|Charcot-Marie-Tooth disease-deafness|Charcot-Marie-Tooth disease demyelinating type 1E|Charcot-Marie-Tooth disease and deafness|CMT1E|Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant|Charcot-Marie-Tooth disease, demyelinating, type 1E|Charcot-Marie-Tooth disease-deafness syndrome|Charcot Marie Tooth disease type 1E ICD10:G60.0|DOID:0110153|MESH:C537986|UMLS:C2931686|Orphanet:90658|GARD:0009190|OMIM:118300 owl:Class MONDO:0007184 biolink:NamedThing alopecia, androgenetic, 1 tmpaxzxjjyw_mondo_relaxed.owl alopecia, androgenetic, 1|baldness, Male pattern|AGA1 OMIM:109200 owl:Class MONDO:0007891 biolink:NamedThing familial generalized lentiginosis Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. tmpaxzxjjyw_mondo_relaxed.owl familial lentigines profusa|lentiginosis, generalized|lentiginosis profusa|lentiginosis, inherited patterned|familial multiple lentigines syndrome without systemic involvement|lentiginosis, diffuse Orphanet:231040|UMLS:CN201466|ICD10:L81.4|UMLS:C3492944|SCTID:765195000|OMIM:151001|MESH:C573023 owl:Class HGNC:1455 biolink:NamedThing CALR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018003 biolink:NamedThing limbic encephalitis with DPP6 antibodies tmpaxzxjjyw_mondo_relaxed.owl limbic encephalitis with DPPX antibodies|limbic encephalitis with dipeptidyl-peptidase 6 antibodies Orphanet:329341|ICD10:G13.1 owl:Class MONDO:0002862 biolink:NamedThing bile duct sarcoma A sarcoma that involves the bile duct. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of the bile duct|bile duct sarcoma|sarcoma of bile duct DOID:4064 owl:Class NCBITaxon:186820 biolink:NamedThing Listeriaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0100439 biolink:NamedThing glycogen storage disease IXa2 Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK in liver, but normal activity in erythrocytes. tmpaxzxjjyw_mondo_relaxed.owl GSD IXa2|liver glycogenosis, X-linked, type 2|GSD9A2 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2128 owl:Class MONDO:0017066 biolink:NamedThing cervical spina bifida aperta tmpaxzxjjyw_mondo_relaxed.owl ICD9:741.91|UMLS:CN202425|SCTID:425687007|Orphanet:268392 owl:Class MONDO:0010017 biolink:NamedThing sea-blue histiocyte syndrome A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly. tmpaxzxjjyw_mondo_relaxed.owl SEA-blue histiocyte disease|histiocytosis, Sea-blue|sea-blue histiocytosis|inherited Lipemic splenomegaly OMIM:269600|Orphanet:158029|GARD:0008241|SCTID:37821003|DOID:4423|ICD10:D76.3|EFO:1001170|NCIT:C85062|UMLS:C0036489|MESH:D012618 owl:Class MONDO:0003058 biolink:NamedThing microcystic meningioma A WHO grade I meningioma characterized by the presence of intercellular microcystic spaces that contain mucinous fluid. tmpaxzxjjyw_mondo_relaxed.owl microcystic meningioma|microcystic meningioma (morphologic abnormality) MESH:D008579|UMLS:C1384408|DOID:4594|EFO:1000376|NCIT:C4721 owl:Class MONDO:0018595 biolink:NamedThing single-organ polyarteritis nodosa Single-organ polyarteritis nodosa (PAN) is a rare, often mild form of PAN characterized by limited disease without generalized manifestations, most often affecting the skin (cutaneous PAN), the brain, eyes, pancreas, testicles, ureter, breasts, or ovaries. Affected patients are often younger than those with systemic PAN and relapses appear to be more common. tmpaxzxjjyw_mondo_relaxed.owl single-organ periarteritis nodosa|single-organ PAN UMLS:CN242112|ICD10:M30.0|Orphanet:439755 owl:Class HGNC:6556 biolink:NamedThing LETM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002817 biolink:NamedThing Abnormality of the upper limb An abnormality of the arm. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the upper limb|Abnormality of the arm UMLS:C4020900 HP:0003838 human_phenotype owl:Class MONDO:0011310 biolink:NamedThing long chain fatty acids, defect in transport of tmpaxzxjjyw_mondo_relaxed.owl long chain fatty acids, defect in TRANSPORT OF OMIM:603376 owl:Class GO:0099524 biolink:NamedThing postsynaptic cytosol The region of the cytosol consisting of all cytosol that is part of the postsynapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017349 biolink:NamedThing myopericytoma A usually slow growing, subcutaneous nodular neoplasm arising from myopericytes. It is composed of myoid cells arranged in a perivascular growth pattern. The vast majority of cases have a benign clinical course. tmpaxzxjjyw_mondo_relaxed.owl hemangiopericytoma|solitary myofibroma|MPC ONCOTREE:MPC|NCIT:C50401|Orphanet:289685|UMLS:C1302808|ICDO:8713/1 owl:Class MONDO:0001907 biolink:NamedThing adult dermatomyositis Dermatomyositis in an adult. tmpaxzxjjyw_mondo_relaxed.owl adult onset dermatomyositis|dermatomyositis of adults DOID:14202|NCIT:C27313|SCTID:402425006 owl:Class HGNC:9475 biolink:NamedThing PRSS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0100872 biolink:NamedThing Abnormality of the plantar skin of foot An abnormality of the plantar part of foot, that is of the soles of the feet. tmpaxzxjjyw_mondo_relaxed.owl Minor feet anomalies UMLS:C4020946 doelkens 2011-11-30T11:23:05Z HP:0010613 human_phenotype owl:Class MONDO:0018929 biolink:NamedThing medial condensing osteitis of the clavicle tmpaxzxjjyw_mondo_relaxed.owl condensing osteitis of the medial clavicle|osteitis condensans of the clavicle|condensing osteitis of the clavicle GARD:0010910|UMLS:CN230280|ICD10:M85.3|Orphanet:57196 owl:Class MONDO:0014207 biolink:NamedThing age related macular degeneration 14 An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. tmpaxzxjjyw_mondo_relaxed.owl macular Degeneration, age-related, type 14|ARMD14|macular degeneration, age-related, 14|macular Degeneration, age-related, reduced risk of|age related macular degeneration type 14 DOID:0110026|OMIM:615489 owl:Class MONDO:0007437 biolink:NamedThing dentin dysplasia type II Dentin dysplasia type II (DD-II) is a rare mild form of dentin dysplasia (DD) characterized by normal tooth roots but abnormal primary dentition. tmpaxzxjjyw_mondo_relaxed.owl Dtdp2|dentin dysplasia, coronal|pulpal dysplasia|dentin dysplasia, type II|dentin dysplasia, type 2|dentin dysplasia, Shields type 2|dentin dyspalsia, Shields type 2|coronal dentin dysplasia|DTDP2|anomalous dysplasia of dentin|pulp stones|DD-II SCTID:109494000|ICD9:520.5|ICD10:K00.5|GARD:0001806|Orphanet:99791|OMIM:125420 owl:Class NCBITaxon:337677 biolink:NamedThing Cricetidae tmpaxzxjjyw_mondo_relaxed.owl PMID:15371245|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:337687 biolink:NamedThing Muroidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:15019624|PMID:15371245 ncbi_taxonomy owl:Class OBO:CHR_9606-chr1q12-q21 biolink:NamedThing 1q12-q21 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0006169 biolink:NamedThing complex endometrial hyperplasia A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures. Epithelial atypia may be present or absent. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349578|ICD9:621.32|SCTID:198322002|EFO:1000202|NCIT:C35423 owl:Class MONDO:0033658 biolink:NamedThing neurodevelopmental disorder with seizures and brain atrophy tmpaxzxjjyw_mondo_relaxed.owl NEDSEBA OMIM:619072 owl:Class MONDO:0009997 biolink:NamedThing Roberts syndrome Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS. tmpaxzxjjyw_mondo_relaxed.owl SC pseudothalidomide syndrome|SC phocomelia syndrome (mild variant of Roberts syndrome)|long bone deficiencies associated with cleft lip-palate|Roberts-SC phocomelia syndrome|Roberts syndrome/SC phocomelia|Roberts tetraphocomelia syndrome|SC phocomelia|Appelt-Gerken-Lenz syndrome|tetraphocomelia-cleft palate syndrome|pseudothalidomide syndrome ICD10:Q73.8|DOID:5325|SCTID:48718006|NCIT:C4681|Orphanet:3103|GARD:0007387|NCIT:C126326|MESH:C535687 https://github.com/monarch-initiative/mondo/issues/2553 owl:Class MONDO:0100253 biolink:NamedThing Roberts-SC phocomelia syndrome A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. tmpaxzxjjyw_mondo_relaxed.owl pseudothalidomide syndrome|Roberts-SC phocomelia syndrome|long bone deficiencies associated with cleft lip-palate|phocomelia-pseudothalidomide syndrome|RBS NCIT:C4681|OMIM:268300 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2553 owl:Class NCBITaxon:1980613 biolink:NamedThing unclassified Bunyavirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007388 biolink:NamedThing congenitally short costocoracoid ligament Congenital shortness of the costocoracoid ligament is a rare anomaly characterized by fixation of the scapula to the first rib, resulting in a cosmetic deformity with rounding of the shoulders and loss of the anterior clavicular contour. tmpaxzxjjyw_mondo_relaxed.owl fixation of the scapula to the first rib by a congenitally short costocoracoid ligament|costocoracoid ligament congenitally short|congenital shortness of the costocoracoid ligament|costocoracoid ligament, congenitally short ICD10:Q68.8|GARD:0001551|SCTID:725101002|OMIM:122580|MESH:C536448|Orphanet:2391 https://rarediseases.info.nih.gov/diseases/1551/costocoracoid-ligament-congenitally-short owl:Class GO:0019400 biolink:NamedThing alditol metabolic process The chemical reactions and pathways involving alditols, any polyhydric alcohol derived from the acyclic form of a monosaccharide by reduction of its aldehyde or keto group to an alcoholic group. tmpaxzxjjyw_mondo_relaxed.owl alditol metabolism owl:Class MONDO:0013776 biolink:NamedThing spastic ataxia 5 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. tmpaxzxjjyw_mondo_relaxed.owl spastic ataxia 5, autosomal recessive|AFG3L2-related spastic ataxia-neuropathy syndrome|autosomal recessive spastic ataxia type 5|autosomal recessive spastic ataxia caused by mutation in AFG3L2|AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome|AFG3L2 autosomal recessive spastic ataxia|SPAX5|spastic ataxia type 5|early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome DOID:0050944|UMLS:C3280977|ICD10:G11.4|Orphanet:313772|OMIM:614487 owl:Class GO:0055088 biolink:NamedThing lipid homeostasis Any process involved in the maintenance of an internal steady state of lipid within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051154 biolink:NamedThing negative regulation of striated muscle cell differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of striated muscle cell differentiation|down regulation of striated muscle cell differentiation|inhibition of striated muscle cell differentiation|downregulation of striated muscle cell differentiation owl:Class MONDO:0019204 biolink:NamedThing respiratory bronchiolitis-interstitial lung disease syndrome Respiratory bronchiolitis - interstitial lung disease is a mild inflammatory pulmonary disorder developed by cigarette smokers and characterized by shortness of breath and cough, pulmonary function abnormalities of mixed restrictive and obstructive lung disease and high resolution CT scanning showing centrilobular micronodules, ground glass opacities and peribronchiolar thickening. tmpaxzxjjyw_mondo_relaxed.owl RB-ILD UMLS:CN205794|Orphanet:79127|MedDRA:10066393|ICD10:J68.4 owl:Class GO:0004046 biolink:NamedThing aminoacylase activity Catalysis of the reaction: an N-acyl-L-amino acid + H2O = a carboxylate + an L-amino acid. tmpaxzxjjyw_mondo_relaxed.owl benzamidase activity|hippurase activity|N-acyl-L-amino-acid amidohydrolase activity|long acyl amidoacylase activity|dehydropeptidase II activity|histozyme activity|aminoacylase I activity|amido acid deacylase activity|short acyl amidoacylase activity|acylase I activity|L-aminoacylase activity|L-amino-acid acylase activity|alpha-N-acylaminoacid hydrolase activity owl:Class MONDO:0001613 biolink:NamedThing vertebrobasilar insufficiency Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the brain stem; cerebellum; occipital lobe; medial temporal lobe; and thalamus. Characteristic clinical features include syncope; lightheadedness; visual disturbances; and vertigo. brain stem infarctions or other brain infarction may be associated. tmpaxzxjjyw_mondo_relaxed.owl vertebrobasilar artery syndrome|vertebrobasilar arterial insufficiency|vertebrobasilar insufficiency|vertebro-basilar insufficiency EFO:1001449|MESH:D014715|SCTID:195199008|UMLS:C0042568|DOID:13003|ICD10:G45.0|ICD9:435.3 owl:Class MONDO:0018462 biolink:NamedThing Angelman syndrome due to imprinting defect in 15q11-q13 tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q93.5|UMLS:CN237442|Orphanet:411515 owl:Class UBERON:0006661 biolink:NamedThing epicranial aponeurosis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002331 biolink:NamedThing nephrosis Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA. tmpaxzxjjyw_mondo_relaxed.owl Nephroses DOID:2527|SCTID:90708001|UMLS:C0027720|MESH:D009401 owl:Class UBERON:0014390 biolink:NamedThing muscle layer of ileum tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011201 biolink:NamedThing muscle layer of small intestine tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003301 biolink:NamedThing roof plate of diencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0019291 biolink:NamedThing white matter of metencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18111 biolink:NamedThing CCDC50 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033309 biolink:NamedThing Joubert syndrome 32 tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome 32|JBTS32 UMLS:CN596207|DOID:0080278|OMIM:617757 owl:Class MONDO:0001849 biolink:NamedThing chronic orbital inflammation tmpaxzxjjyw_mondo_relaxed.owl chronic inflammation of orbit ICD9:376.10|UMLS:C0155261|DOID:1397|SCTID:44729001|ICD10:H05.1|ICD9:376.1 owl:Class MONDO:0023101 biolink:NamedThing facio digito genital syndrome recessive form tmpaxzxjjyw_mondo_relaxed.owl GARD:0002226 https://rarediseases.info.nih.gov/diseases/2226/facio-digito-genital-syndrome-recessive-form owl:Class MONDO:0004696 biolink:NamedThing larynx carcinoma in situ A in situ carcinoma that involves the larynx. tmpaxzxjjyw_mondo_relaxed.owl stage 0 larynx carcinoma|laryngeal cancer stage 0|carcinoma in situ of the larynx|stage 0 laryngeal carcinoma|carcinoma in situ of larynx|stage 0 laryngeal cancer aJCC v6, v7, and V8|stage 0 laryngeal cancer aJCC v6|stage 0 laryngeal cancer aJCC v7|stage 0 laryngeal cancer aJCC v8|larynx carcinoma in situ|stage 0 carcinoma of larynx|stage 0 laryngeal carcinoma in situ|laryngeal carcinoma stage 0|larynx in situ carcinoma|stage 0 carcinoma of the larynx|laryngeal carcinoma in situ|stage 0 laryngeal throat cancer|stage 0 laryngeal cancer UMLS:C0154069|ICD9:231.0|SCTID:92634009|DOID:9011|ICD10:D02.0|NCIT:C9100 owl:Class MONDO:0006696 biolink:NamedThing cervix erosion Loss or destruction of the epithelial lining of the uterine cervix. tmpaxzxjjyw_mondo_relaxed.owl erosion of cervix DOID:3456|EFO:1000862|MESH:D002579|UMLS:C0007869|MedDRA:10015128|SCTID:61253004 owl:Class CHEBI:46663 biolink:NamedThing silicate mineral tmpaxzxjjyw_mondo_relaxed.owl silicate minerals|silicates|Silikatminerale|Silikat|silicato|silicatos|Silikate owl:Class MONDO:0010044 biolink:NamedThing hereditary spastic paraplegia 15 Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spastic paraplegia type 15|recessive spastic paraplegia with retinal degeneration|SPG15|spastic paraplegia 15, autosomal recessive|spastic paraplegia and retinal Degeneration|autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26|Kjellin syndrome|hereditary spastic paraplegia 15|spastic paraplegia 15|autosomal recessive spastic paraplegia 15|hereditary spastic paraparesis type 15|ZFYVE26 autosomal recessive complex spastic paraplegia|spastic paraplegia-retinal degeneration syndrome|spastic paraplegia and retinal degeneration|hereditary spastic paraplegia type 15 OMIM:270700|SCTID:709417000|UMLS:C1849128|ICD10:G11.4|GARD:0009581|MESH:C536642|Orphanet:100996|DOID:0110768 owl:Class MONDO:0033367 biolink:NamedThing developmental and epileptic encephalopathy, 58 tmpaxzxjjyw_mondo_relaxed.owl DEE58|infantile epileptic encephalopathy 58|epileptic encephalopathy, early infantile, 58|EIEE58 DOID:0080285|UMLS:CN757795|OMIM:617830 owl:Class UBERON:0015481 biolink:NamedThing left hepatic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006258 biolink:NamedThing juvenile polyp A non-neoplastic hamartomatous polyp that arises from the stomach and intestinal tract. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation. tmpaxzxjjyw_mondo_relaxed.owl retention polyp|juvenile polyp NCIT:C3826|EFO:1000310|UMLS:C0221273 owl:Class ECTO:0001566 biolink:NamedThing exposure to cadmium An exposure to cadmium molecular entity. tmpaxzxjjyw_mondo_relaxed.owl exposure to cadmium molecular entity owl:Class NCBITaxon:374468 biolink:NamedThing Nakaseomyces tmpaxzxjjyw_mondo_relaxed.owl PMID:14654427|GC_ID:1 ncbi_taxonomy owl:Class UBERON:0011927 biolink:NamedThing preganglionic sympathetic fiber tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004297 biolink:NamedThing lymphoepithelioma-like thymic carcinoma A rare, usually aggressive primary thymic carcinoma, characterized by a syncytial growth of undifferentiated carcinoma cells and the presence of a lymphoplasmacytic infiltrate. More than 40% of cases are associated with Epstein-Barr virus infection. tmpaxzxjjyw_mondo_relaxed.owl lymphoepithelioma-like carcinoma of the Thymus|lymphoepithelial cancer of Thymus|lymphoepithelioma-like Thymus carcinoma|lymphoepithelioma-like carcinoma of Thymus|lymphoepithelial Thymus cancer|thymic lymphoepithelioma-like carcinoma|malignant lymphoepithelial thymoma|lymphoepithelioma-like thymic carcinoma|lymphoepithelial cancer of the Thymus DOID:7599|NCIT:C7998|UMLS:C0279706 owl:Class MONDO:0004918 biolink:NamedThing central corneal ulcer tmpaxzxjjyw_mondo_relaxed.owl SCTID:7426009|DOID:9910|ICD10:H16.01|UMLS:C0155069|ICD9:370.03 owl:Class UBERON:0004835 biolink:NamedThing epididymis smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:33677 biolink:NamedThing Acanthamoebidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:555407 biolink:NamedThing Centramoebida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0042886 biolink:NamedThing amide transport The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001096 biolink:NamedThing Keratoconjunctivitis Inflammation of the cornea and conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl MSH:D007637|UMLS:C0022573|SNOMEDCT_US:88151007 human_phenotype owl:Class MONDO:0005592 biolink:NamedThing smooth surface dental caries tmpaxzxjjyw_mondo_relaxed.owl ICD9:521.07|EFO:0006339 owl:Class NCBITaxon:1776223 biolink:NamedThing Gorgoderoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:27872 biolink:NamedThing Xiphidiata tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:1902064 biolink:NamedThing regulation of transcription from RNA polymerase II promoter involved in spermatogenesis Any regulation of transcription from RNA polymerase II promoter that is involved in spermatogenesis. tmpaxzxjjyw_mondo_relaxed.owl regulation of gene-specific transcription from RNA polymerase II promoter involved in spermatogenesis|regulation of global transcription from Pol II promoter involved in generation of spermatozoa|global transcription regulation from Pol II promoter involved in spermatogenesis|regulation of global transcription from Pol II promoter involved in spermatogenesis|regulation of transcription from Pol II promoter involved in spermatogenesis|regulation of transcription from Pol II promoter involved in generation of spermatozoa|global transcription regulation from Pol II promoter involved in generation of spermatozoa|regulation of transcription from RNA polymerase II promoter, global involved in generation of spermatozoa|regulation of transcription from RNA polymerase II promoter, global involved in spermatogenesis|regulation of transcription from RNA polymerase II promoter involved in generation of spermatozoa|regulation of gene-specific transcription from RNA polymerase II promoter involved in generation of spermatozoa owl:Class MONDO:0024886 biolink:NamedThing serous adenofibroma A benign adenofibroma characterized by the presence of serous secretory cells and minute cystic spaces filled with watery fluid. A representative example is the ovarian serous adenofibroma. Cases with epithelial atypia described in the ovary lacking stromal invasion are designated as borderline serous adenofibromas and have a low grade malignant potential. tmpaxzxjjyw_mondo_relaxed.owl serous adenofibroma NCIT:C67090|ICDO:9014/0|UMLS:C0334498 owl:Class MONDO:0003596 biolink:NamedThing spindle cell liposarcoma A morphologic variant of well differentiated liposarcoma characterized by the presence of bland spindle cells and lipoblasts within a myxoid or fibrous stroma. tmpaxzxjjyw_mondo_relaxed.owl spindle cell liposarcoma NCIT:C27489|ICD9:171.9|UMLS:C1275275|DOID:5705|SCTID:404073009 owl:Class HGNC:19977 biolink:NamedThing RDH12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016693 biolink:NamedThing subependymal giant cell astrocytoma A benign, slowly growing tumor (WHO grade I) typically arising in the wall of the lateral ventricles and composed of large ganglioid astrocytes. It is the most common CNS neoplasm in patients with tuberous sclerosis complex and typically occurs during the first two decades of life. (WHO) tmpaxzxjjyw_mondo_relaxed.owl subependymal giant cell astrocytic neoplasm|subependymal giant cell astrocytic tumor|SEGA|subependymal giant cell astrocytoma (morphologic abnormality) DOID:5077|NCIT:C3696|SCTID:449799008|MESH:D001254|ICDO:9384/1|ICD10:D43.2|GARD:0010632|Orphanet:251618|UMLS:C0205768 https://rarediseases.info.nih.gov/diseases/10632/subependymal-giant-cell-astrocytoma owl:Class MONDO:0007667 biolink:NamedThing subependymoma Subependymoma is a rare and slow growing type of ependymoma, often presenting in middle-aged adults, found more commonly in men than in women, usually located in the fourth and lateral ventricles and manifesting with variable symptoms including headache, nausea, and loss of balance. In some cases it can be asymptomatic. It is usually associated with a better prognosis than other forms of ependymoma. tmpaxzxjjyw_mondo_relaxed.owl WHO grade I ependymal tumor|SUBEPENDYMOMA, benign|WHO grade I ependymal neoplasm|subependymal astrocytoma (formerly)|subependymal astrocytoma|mixed subependymoma-ependymoma|subependymal glioma|subependymoma Orphanet:251639|ICDO:9383/1|EFO:1001197|GARD:0010070|ICD10:D43.2|MESH:D018315|UMLS:C0206725|ONCOTREE:SUBE|EFO:1000553|NCIT:C3795|DOID:4843 owl:Class MONDO:0001716 biolink:NamedThing corneal argyrosis tmpaxzxjjyw_mondo_relaxed.owl argyrosis of cornea|argentous corneal deposits ICD10:H18.02|DOID:13447|ICD9:371.16|SCTID:21328003|UMLS:C0155108 owl:Class HsapDv:0000122 biolink:NamedThing 28-year-old human stage Adult stage that refers to an adult who is over 28 and under 29. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018582 biolink:NamedThing GCGR-related hyperglucagonemia tmpaxzxjjyw_mondo_relaxed.owl Mahvash disease|Nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor|Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor Orphanet:438274|UMLS:CN237611|ICD10:E16.3|GARD:0010460 owl:Class MONDO:0032617 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 11 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11|MC1DN11 OMIM:618234 owl:Class MONDO:0100097 biolink:NamedThing congenital alveolar dysplasia due to TBX4 Any congenital alveolar dysplasia in which the cause of the disease is a mutation in the TBX4 gene. tmpaxzxjjyw_mondo_relaxed.owl CAD due to TBX4 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3190 owl:Class MONDO:0100077 biolink:NamedThing congenital alveolar dysplasia A congenital alveolar dysplasia characterized anatomically by a defective and hypoplastic development of pulmonary alveoli that is commonly associated with atelectasis and can be responsible for atelectasis. tmpaxzxjjyw_mondo_relaxed.owl CAD http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3190 owl:Class MONDO:0014889 biolink:NamedThing striatonigral degeneration, childhood-onset tmpaxzxjjyw_mondo_relaxed.owl SNDC|childhood-onset basal ganglia degeneration syndrome|Lenk-Ploski syndrome|striatonigral degeneration, childhood-onset; SNDC|striatonigral Degeneration, childhood-onset UMLS:C4310743|OMIM:617054|Orphanet:497906 owl:Class MONDO:0009475 biolink:NamedThing isovaleric acidemia Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported. tmpaxzxjjyw_mondo_relaxed.owl isovaleryl CoA carboxylase deficiency|isovaleric aciduria|isovaleryl-CoA dehydrogenase deficiency|isovaleric acid Coa dehydrogenase deficiency|isovaleric acid CoA dehydrogenase deficiency|IVD deficiency|Isovalericacidemia|isovaleric acidemia|IVA SCTID:87827003|GARD:0000465|MESH:C538167|NCIT:C98964|Orphanet:33|ICD10:E71.1|OMIM:243500|ICD10:E71.110|UMLS:C0268575|DOID:14753 https://rarediseases.info.nih.gov/diseases/465/isovaleric-acidemia owl:Class MONDO:0044912 biolink:NamedThing metastatic malignant neoplasm in the spinal cord A malignant neoplasm that has spread to the spinal cord from another anatomic site or system. Representative examples include carcinoma, lymphoma, and melanoma. tmpaxzxjjyw_mondo_relaxed.owl metastasis to spinal cord|Secondary malignant tumor to the spinal cord|Secondary malignant neoplasm to the spinal cord|Metastatic neoplasm to the spinal cord|Metastatic tumor to the spinal cord|Metastatic malignant neoplasm in the spinal cord|Metastatic malignant neoplasm to the spinal cord UMLS:C0347016|NCIT:C4585|SCTID:94600009 owl:Class MONDO:0011439 biolink:NamedThing spinocerebellar ataxia type 12 Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported. tmpaxzxjjyw_mondo_relaxed.owl SCA12|spinocerebellar ataxia 12|spinocerebellar ataxia type 12 MESH:C565790|UMLS:C1858501|ICD10:G11.2|UMLS:C4304885|Orphanet:98762|NCIT:C154316|GARD:0010476|DOID:0050962|SCTID:719208005|OMIM:604326 owl:Class MONDO:0018048 biolink:NamedThing heparin-induced thrombocytopenia Heparin-induced thrombocytopenia (HIT) is a drug-induced, immune-mediated prothrombotic disorder associated with thrombocytopenia and venous and/or arterial thrombosis. tmpaxzxjjyw_mondo_relaxed.owl heparin-associated thrombocytopenia|HIT|heparin-induced thrombocytopenia|heparin-induced thrombocytopenia type 2|HAT|heparin-induced thrombocytopenia (disease) heparin-induced thrombocytopenia (disease) Orphanet:3325|GARD:0002650|MedDRA:10062506|SCTID:73397007|ICD9:289.84|ICD10:D69.5|HP:0011874|UMLS:C0272285 owl:Class HGNC:8086 biolink:NamedThing OAS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002520 biolink:NamedThing immune system development The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000514 biolink:NamedThing smooth muscle myoblast A precursor cell destined to differentiate into smooth muscle myocytes. tmpaxzxjjyw_mondo_relaxed.owl myoblast, smooth muscle|satellite cell FMA:84798 cell owl:Class MONDO:0021340 biolink:NamedThing intertrigo A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation. tmpaxzxjjyw_mondo_relaxed.owl Eczema intertrigo|Erythema intertrigo|Intertrigo MESH:D007402|SCTID:58759008|ICD9:695.89|UMLS:C0021807 owl:Class UBERON:0001142 biolink:NamedThing left renal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0015873 biolink:NamedThing heel skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001512 biolink:NamedThing skin of ankle tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000724 biolink:NamedThing exposure to genotoxin An exposure to genotoxin. tmpaxzxjjyw_mondo_relaxed.owl exposure to genotoxin owl:Class MONDO:0020317 biolink:NamedThing acute myeloid leukemia with 11q23 abnormalities An acute myeloid leukemia associated with t(9;11)(p22.3;q23.3) and MLLT3-KMT2A fusion protein expression. Morphologically it usually has monocytic features. It may present at any age but it is more commonly seen in children. Patients may present with disseminated intravascular coagulation. tmpaxzxjjyw_mondo_relaxed.owl acute myeloid leukemia with 11q23 (MLL) abnormalities|acute myeloid leukemia with MLL abnormalities|AML with 11q23 abnormalities|AML with t(9;11)(p22;q23); MLLT3-MLL|acute myeloid Leukemia with t(9;11)(p21.3;q23.3); MLLT3-KMT2A|acute myeloid leukemia with t(9;11)(p22.3;q23.3); MLLT3-KMT2A|acute myeloid leukemia with t(9;11)(p22;q23); MLLT3-MLL SCTID:444911000|Orphanet:98831|NCIT:C82403|ICDO:9897/3|ICD10:C92.6 owl:Class MONDO:0004940 biolink:NamedThing acute female pelvic peritonitis tmpaxzxjjyw_mondo_relaxed.owl DOID:9978|ICD9:614.5|UMLS:C0269032|ICD10:N73.3|SCTID:85051008 owl:Class MONDO:0015056 biolink:NamedThing acquired angioedema type 1 Acquired angioedema type 1 (AAE 1) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpaxzxjjyw_mondo_relaxed.owl acquired angioneurotic edema type 1 UMLS:CN197348|Orphanet:100056|ICD10:T78.3 owl:Class MONDO:0022610 biolink:NamedThing bronchiectasis oligospermia tmpaxzxjjyw_mondo_relaxed.owl GARD:0001023 https://rarediseases.info.nih.gov/diseases/1023/bronchiectasis-oligospermia owl:Class MONDO:0015250 biolink:NamedThing spinal atrophy-ophthalmoplegia-pyramidal syndrome Spinal atrophy-ophthalmoplegia-pyramidal syndrome is a rare, bulbospinal muscular atrophy characterized by generalized neonatal hypotonia, progressive pontobulbar and spinal palsy, pyramidal signs, and deafness. External ophthalmoplegia and bilateral mydriasis are typical signs. There have been no further descriptions in the literature since 1994. tmpaxzxjjyw_mondo_relaxed.owl Hamano Tsukamoto syndrome|Hamano-Tsukamoto syndrome|infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms|spinal atrophy ophthalmoplegia pyramidal syndrome MESH:C535625|ICD10:G12.2|Orphanet:1217|GARD:0004942|UMLS:C2930956 https://rarediseases.info.nih.gov/diseases/4942/spinal-atrophy-ophthalmoplegia-pyramidal-syndrome owl:Class UBERON:0003229 biolink:NamedThing epithelium of elbow tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014196 biolink:NamedThing Hartsfield-Bixler-Demyer syndrome tmpaxzxjjyw_mondo_relaxed.owl holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|HARTSFIELD syndrome|holoprosencephaly-ectrodactyly-cleft lip palate syndrome|HRTFDS|Hartsfield-Bixler-Demyer syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft Lip/palate ICD10:Q87.8|UMLS:C1845146|MESH:C564484|Orphanet:2117|OMIM:615465|SCTID:766032007 owl:Class HGNC:7488 biolink:NamedThing MT-TI tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022869 biolink:NamedThing coronary arteries congenital malformation tmpaxzxjjyw_mondo_relaxed.owl GARD:0001534 https://rarediseases.info.nih.gov/diseases/1534/coronary-arteries-congenital-malformation owl:Class MONDO:0008212 biolink:NamedThing Pechet factor deficiency tmpaxzxjjyw_mondo_relaxed.owl Pechet factor deficiency|Dynia factor deficiency MESH:C566814|UMLS:C1868545|OMIM:169200 owl:Class MONDO:0008498 biolink:NamedThing strabismus, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl strabismus, susceptibility to, 1|strabismus, susceptibility to OMIM:185100|UMLS:C1861449 owl:Class CL:0000956 biolink:NamedThing pre-B-I cell A pre-B-I cell is a precursor B cell that expresses CD34 and surrogate immunoglobulin light chain (VpreB , Lambda 5 (mouse)/14.1 (human)) on the cell surface, and TdT, Rag1,and Rag2 intracellularly. Cell type carries a D-JH DNA rearrangement, and lacks expression of immunglobulin heavy chain protein. tmpaxzxjjyw_mondo_relaxed.owl pro-B cell (Philadelphia nomenclature)|pre-BI cell Human pre-B-I cells are reportedly CD10-positive, CD19-positive, CD22-positive, CD38-positive, CD45-low, CD79a-positive, CD127-negative, pre-BCR-negative, IgM-negative, IgD-negative, and Tdt-positive. Transcription factors expressed: Pax5-positive. cell owl:Class CL:2000005 biolink:NamedThing brain macroglial cell Any macroglial cell that is part of a brain. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-03-28T21:35:27Z cell owl:Class MONDO:0001789 biolink:NamedThing neurofibroma of spinal cord A neurofibroma that arises from the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl neurofibroma of spinal cord|spinal cord neurofibroma UMLS:C1336047|DOID:13742|NCIT:C5145 owl:Class GO:1905030 biolink:NamedThing voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential Any voltage-gated ion channel activity that is involved in regulation of postsynaptic membrane potential. tmpaxzxjjyw_mondo_relaxed.owl voltage-dependent ion channel activity involved in regulation of post-synaptic membrane potential|voltage-dependent ion channel activity involved in regulation of postsynaptic membrane potential|voltage-gated ion channel activity involved in regulation of post-synaptic membrane potential|voltage gated ion channel activity involved in regulation of post-synaptic membrane potential|voltage gated ion channel activity involved in regulation of postsynaptic membrane potential owl:Class MONDO:0002437 biolink:NamedThing dehydration polycythemia Polycythemia resulting from dehydration. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27310|DOID:2833|UMLS:C0856815 owl:Class HGNC:9009 biolink:NamedThing PKD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009165 biolink:NamedThing Aicardi-Goutieres syndrome 1 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the TREX1 gene. tmpaxzxjjyw_mondo_relaxed.owl Ags|Cree encephalitis|TREX1 Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome 1, autosomal dominant|AGS1|Aicardi-Goutieres syndrome caused by mutation in TREX1|Aicardi-Goutieres syndrome type 1|Pseudotoxoplasmosis syndrome|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|Aicardi-Goutieres syndrome 1 OMIM:225750|Orphanet:51|GARD:0010893|UMLS:C0796126 owl:Class MONDO:0024562 biolink:NamedThing sick sinus syndrome 1 Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene. tmpaxzxjjyw_mondo_relaxed.owl sinus bradycardia syndrome, familial|sinus rhythm, congenital absence of|sick sinus syndrome caused by mutation in SCN5A|sick sinus syndrome 1|sinus node disease, familial, autosomal recessive|SSS1|sick sinus syndrome, congenital|SCN5A sick sinus syndrome OMIM:608567|Orphanet:166282 owl:Class MONDO:0024501 biolink:NamedThing appendix neuroendocrine neoplasm A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade). tmpaxzxjjyw_mondo_relaxed.owl vermiform appendix neuroendocrine tumor|vermiform appendix NET|neuroendocrine neoplasm of vermiform appendix|vermiform appendix neuroendocrine tumor, well differentiated, low or intermediate grade|vermiform appendix neuroendocrine neoplasm|appendix neuroendocrine neoplasm NCIT:C60709 owl:Class MONDO:0012563 biolink:NamedThing holoprosencephaly 9 Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene. tmpaxzxjjyw_mondo_relaxed.owl GLI2 holoprosencephaly|holoprosencephaly with microphthalmia and first branchial Arch anomalies|holoprosencephaly with microphthalmia and first branchial arch anomalies|HPE9|holoprosencephaly type 9|pituitary anomalies with holoprosencephaly-like features|holoprosencephaly caused by mutation in GLI2|holoprosencephaly 9 OMIM:610829|DOID:0110873|Orphanet:2162|UMLS:C1835819 owl:Class HGNC:4318 biolink:NamedThing GLI2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013882 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 2 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene. tmpaxzxjjyw_mondo_relaxed.owl glycosylphosphatidylinositol biosynthesis defect 6|PIGO hyperphosphatasia-intellectual disability syndrome|hyperphosphatasia with intellectual disability syndrome type 2|hyperphosphatasia with intellectual disability syndrome 2|HPMRS2|hyperphosphatasia with mental retardation syndrome 2|hyperphosphatasia with mental retardation syndrome type 2|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO Orphanet:247262|UMLS:C3553637|OMIM:614749 owl:Class MONDO:0000908 biolink:NamedThing arrhythmogenic right ventricular dysplasia 13 Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene. tmpaxzxjjyw_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia type 13|arrhythmogenic right ventricular dysplasia, familial, type 13|arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3|arrhythmogenic right ventricular dysplasia, familial, 13|ARVC13|familial arrhythmogenic right ventricular dysplasia 13|ARVD13|arrhythmogenic right ventricular cardiomyopathy 13|CTNNA3 arrhythmogenic right ventricular cardiomyopathy DOID:0110084|ICD10:I42.8|UMLS:C3810138|Orphanet:217656|OMIM:615616 owl:Class ENVO:01001023 biolink:NamedThing radiation A process during which energy is emitted or transmitted in the form of waves or particles through space or a material medium. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009450 biolink:NamedThing gamma-aminobutyric acid catabolic process The chemical reactions and pathways resulting in the breakdown of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. tmpaxzxjjyw_mondo_relaxed.owl 4-aminobutyrate catabolism|gamma-aminobutyric acid degradation|4-aminobutanoate catabolism|gamma-aminobutyric acid breakdown|4-aminobutyrate catabolic process|GABA catabolism|GABA catabolic process|gamma-aminobutyric acid catabolism|4-aminobutanoate catabolic process owl:Class HGNC:129 biolink:NamedThing ACTA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020531 biolink:NamedThing long chain acyl-CoA dehydrogenase deficiency A genetic disorder characterized by deficiency of the enzyme long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting, illness or exercise. They include hypoglycemia, muscle weakness and lethargy. tmpaxzxjjyw_mondo_relaxed.owl long-chain acyl-CoA dehydrogenase deficiency|rare inborn error of long-chain-acyl-CoA dehydrogenase activity|ACADL deficiency|LCAD deficiency|LCAD|long-chain acyl-Coenzyme A dehydrogenase deficiency|inborn long-chain-acyl-CoA dehydrogenase activity disorder|acyl-CoA dehydrogenase, long-chain deficiency|long chain acyl-CoA dehydrogenase deficiency|inborn error of long-chain-acyl-CoA dehydrogenase activity UMLS:C0220711|SCTID:237996001|MESH:C535690|NCIT:C84537|ICD10:E71.3|GARD:0009700|Orphanet:99900 owl:Class HGNC:20318 biolink:NamedThing SMOC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009145 biolink:NamedThing pharyngeal region of foregut tmpaxzxjjyw_mondo_relaxed.owl owl:Class Nbfc055c7e41e43f2af0a889f7a747dd1 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014841 biolink:NamedThing trichothiodystrophy 6, nonphotosensitive Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene. tmpaxzxjjyw_mondo_relaxed.owl trichothiodystrophy 6, nonphotosensitive; TTD6|TTD6|nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2|trichothiodystrophy 6, nonphotosensitive|GTF2E2 nonphotosensitive trichothiodystrophy OMIM:616943|UMLS:C4310785 owl:Class MONDO:0007541 biolink:NamedThing endometriosis, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl endometriosis, susceptibility to, 1|ENDO1|endometriosis, susceptibility to, type 1 OMIM:131200 owl:Class UBERON:0014767 biolink:NamedThing left crus of diaphragm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024543 biolink:NamedThing brittle cornea syndrome 1 Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene. tmpaxzxjjyw_mondo_relaxed.owl BCS1|Ehlers-Danlos syndrome, type Vib|Ehlers-Danlos syndrome, type Vib, formerly|corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility|dysgenesis Mesodermalis corneae Et sclerae|brittle cornea syndrome caused by mutation in ZNF469|brittle cornea syndrome 1|ZNF469 brittle cornea syndrome|Fragilitas oculi with Joint hyperextensibility OMIM:229200|SCTID:31798004|Orphanet:90354 owl:Class HGNC:23216 biolink:NamedThing ZNF469 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005080 biolink:NamedThing metanephric ureteric bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16075 biolink:NamedThing RAB33B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000330 biolink:NamedThing endemic typhus A bacterial infection caused by Rickettsia typhi. tmpaxzxjjyw_mondo_relaxed.owl endemic typhus fever|Rickettsia felis spotted fever|urban typhus|urban typhus of Malaya|shop typhus|fleaborne typhus|toulon typhus|murine typhus|cat flea rickettsiosis|endemic flea-borne typhus|rat-flea typhus UMLS:CN206047|DOID:0050481|MESH:D014437|ICD10:A75.2|NCIT:C84688|MedDRA:10028282|Orphanet:83315 owl:Class NCBITaxon:785 biolink:NamedThing Rickettsia typhi tmpaxzxjjyw_mondo_relaxed.owl Rickettsia mooseri|Dermacentroxenus typhi GC_ID:11 ncbi_taxonomy owl:Class HGNC:315 biolink:NamedThing AFG3L2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012978 biolink:NamedThing primary ciliary dyskinesia 11 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene. tmpaxzxjjyw_mondo_relaxed.owl ciliary dyskinesia, primary, type 11|RSPH4A primary ciliary dyskinesia|primary ciliary dyskinesia 11|ciliary dyskinesia, primary, 11, without situs inversus|primary ciliary dyskinesia caused by mutation in RSPH4A|primary ciliary dyskinesia 11 without situs inversus|ciliary dyskinesia, primary, 11|CILD11|primary ciliary dyskinesia type 11 OMIM:612649|DOID:0110602|ICD10:Q34.8|UMLS:C2675229|MESH:C567212 owl:Class OBO:CHR_9606-chr7p22.1 biolink:NamedThing 7p22.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 7200000 4500000 hg38 owl:Class OBO:CHR_9606-chr7p22 biolink:NamedThing 7p22 (Human) tmpaxzxjjyw_mondo_relaxed.owl 7200000 0 hg38 owl:Class UBERON:0001975 biolink:NamedThing serosa of esophagus tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr12p12.1 biolink:NamedThing 12p12.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 26300000 21100000 hg38 owl:Class MONDO:0014973 biolink:NamedThing sudden cardiac failure, infantile tmpaxzxjjyw_mondo_relaxed.owl SCFI|sudden cardiac failure, infantile; SCFI|sudden Cardiac failure, infantile OMIM:617222|UMLS:C4310664 owl:Class CHEBI:36856 biolink:NamedThing hydrogen isocyanide tmpaxzxjjyw_mondo_relaxed.owl CNH|hydrogen isocyanide|nitriliomethanide|HN(+)#C(-)|hydroisocyanic acid|HNC owl:Class MONDO:0012893 biolink:NamedThing osteoarthritis susceptibility 5 Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene. tmpaxzxjjyw_mondo_relaxed.owl osteoarthritis of hip|OS5|osteoarthritis susceptibility 5|GDF5 osteoarthritis|osteoarthritis susceptibility type 5|osteoarthritis caused by mutation in GDF5 UMLS:C0029410|SCTID:239872002|OMIM:612400 owl:Class MONDO:0019553 biolink:NamedThing drug-induced localized lipodystrophy Drug-induced localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by the appearance of asymptomatic, well-demarcated, variably sized, depressed, lipoatrophic lesions secondary to subcutaneous, intradermic or intramuscular drug injection, including corticosteroids, insulin, human growth hormone and antibiotics. Skin coloration may vary from white or hypopigmented to reddish, pinkish or violaceous. Epidermal atrophy may be also present. tmpaxzxjjyw_mondo_relaxed.owl lipoatrophy caused by injected drug SCTID:403661001|UMLS:CN227649|ICD10:E88.1|Orphanet:90157 owl:Class MONDO:0003744 biolink:NamedThing spindle cell intraocular melanoma A melanoma arising from the choroid, ciliary body, or the iris. It is characterized by the presence of spindle-shaped melanocytes. tmpaxzxjjyw_mondo_relaxed.owl spindle cell melanoma of the uvea|spindle cell melanoma of uvea|uveal spindle cell melanoma|spindle cell uveal melanoma NCIT:C7986|DOID:6037|UMLS:C0279687 owl:Class HP:0011962 biolink:NamedThing Obstructive azoospermia Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023106 peter 2012-07-16T12:25:35Z human_phenotype owl:Class MONDO:0018829 biolink:NamedThing familial schizencephaly An instance of schizencephaly that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl hereditary schizencephaly|familial schizencephaly UMLS:C2931870|MESH:C538514|Orphanet:481986|UMLS:CN776926|GARD:0000166 owl:Class MONDO:0019668 biolink:NamedThing adenoma of pancreas tmpaxzxjjyw_mondo_relaxed.owl pancreatic adenoma|adenoma of the pancreas Orphanet:93292|MESH:C538110|UMLS:C4076724|UMLS:C1142432|MedDRA:10058902|SCTID:208061000119101|GARD:0004204|ICD10:D13.6 owl:Class MONDO:0013386 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 74 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene. tmpaxzxjjyw_mondo_relaxed.owl DFNB74|autosomal recessive nonsyndromic deafness type 74|MSRB3 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 74|autosomal recessive nonsyndromic deafness 74|autosomal recessive nonsyndromic deafness caused by mutation in MSRB3|autosomal recessive deafness 74|deafness, autosomal recessive type 74 DOID:0110523|Orphanet:90636|OMIM:613718|ICD10:H90.3|UMLS:C2239351 owl:Class OBO:CHR_9606-chr11p15.4 biolink:NamedThing 11p15.4 (Human) tmpaxzxjjyw_mondo_relaxed.owl 11700000 2800000 hg38 owl:Class GO:0005215 biolink:NamedThing transporter activity Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. tmpaxzxjjyw_mondo_relaxed.owl carrier owl:Class NCBITaxon:11676 biolink:NamedThing Human immunodeficiency virus 1 tmpaxzxjjyw_mondo_relaxed.owl human immunodeficiency virus type I HIV-1|HIV1|human immunodeficiency virus-1 HIV-1|HIV-1|AIDS virus|Human immunodeficiency virus type 1|LAV-1|human immunodeficiency virus 1 HIV-1|human immunodeficiency virus type 1 HIV1|human immunodeficiency virus HIV-1|HIV|human immunodeficiency virus type-1 HIV-1|human immunodeficiency virus type 1 HIV-1|human immunodeficiency virus type 1, HIV-1|human immunodeficiency virus type 1 HIV 1 GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005325 biolink:NamedThing mesonephric glomerulus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3804 biolink:NamedThing FOXD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000572 biolink:NamedThing Visual loss Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). tmpaxzxjjyw_mondo_relaxed.owl Vision loss|Loss of vision|Visual loss UMLS:C3665386|SNOMEDCT_US:7973008 human_phenotype owl:Class HP:0004313 biolink:NamedThing Decreased circulating antibody level An abnormally decreased level of immunoglobulin in blood. tmpaxzxjjyw_mondo_relaxed.owl Decreased serum immunoglobulin|Decreased antibody level in blood|Immunoglobulin deficiency|Reduced immunoglobulin levels|Decreased immunoglobulin level|Hypogammaglobulinemia MSH:D000361|SNOMEDCT_US:119250001|UMLS:C4048270|UMLS:C0086438 In humans, immunoglobulins comprise the five antibody isotypes IgA, IgD, IgE, IgG and IgM. peter 2008-02-20T03:34:00Z HP:0010703 human_phenotype owl:Class MONDO:0019261 biolink:NamedThing infantile neuronal ceroid lipofuscinosis A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities. tmpaxzxjjyw_mondo_relaxed.owl infantile NCL|INCL|Santavuori-Haltia disease|Hagberg-Santavuori disease|Santavuori disease SCTID:58258004|Orphanet:79263|OMIM:214200|ICD10:E75.4|OMIM:256730 owl:Class MONDO:0020549 biolink:NamedThing invasive hydatidiform mole A complete hydatidiform mole or very rarely a partial mole that invades the myometrium. tmpaxzxjjyw_mondo_relaxed.owl invasive gestational trophoblastic neoplasm|invasive hydatidiform mole|chorioadenoma Destruens|chorioadenoma destruens|chorioadenoma|invasive Mole|IHM|invasive hydatidiform Mole ICD10:D39.2|NCIT:C6985|UMLS:C0008493|ICDO:9100/1|MESH:D002820|SCTID:416669000|Orphanet:99925|ONCOTREE:IHM owl:Class MONDO:0009006 biolink:NamedThing complement component 2 deficiency Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions. Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion. tmpaxzxjjyw_mondo_relaxed.owl C2 deficiency|complement deficiency caused by mutation in C2|C2D|complement component 2 deficiency|C2 complement deficiency UMLS:C3150275|GARD:0001452|Orphanet:169147|OMIM:217000|NCIT:C119992|DOID:0060295|ICD10:D84.1 https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency owl:Class HGNC:1248 biolink:NamedThing C2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class Nfaf0bbfc699e4c669e657958e1f88a9b biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:104454 biolink:NamedThing Heterophyes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001260 biolink:NamedThing serosa of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013635 biolink:NamedThing Adams-Oliver syndrome 2 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene. tmpaxzxjjyw_mondo_relaxed.owl Adams-Oliver syndrome caused by mutation in DOCK6|Adams-Oliver syndrome 2|AOS2|DOCK6 Adams-Oliver syndrome|Adams-Oliver syndrome type 2 UMLS:C3280182|OMIM:614219|Orphanet:974 owl:Class CL:0000018 biolink:NamedThing spermatid A male germ cell that develops from the haploid secondary spermatocytes. Without further division, spermatids undergo structural changes and give rise to spermatozoa. tmpaxzxjjyw_mondo_relaxed.owl nematoblast FMA:72294|WBbt:0006800|BTO:0001274|EMAPA:31486|FBbt:00004942|CALOHA:TS-0950 cell owl:Class HGNC:37227 biolink:NamedThing KBTBD13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9005 biolink:NamedThing PITX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000777 biolink:NamedThing Abnormality of the thymus Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the thymus UMLS:C0685891|UMLS:C0262650|SNOMEDCT_US:93297002 human_phenotype owl:Class UBERON:0003381 biolink:NamedThing cardiac muscle of right ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13176 biolink:NamedThing IKZF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004435 biolink:NamedThing proximal epiphysis of distal phalanx of manual digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010183 biolink:NamedThing liver trabecula tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002138 biolink:NamedThing allergic contact dermatitis of eyelid A allergic contact dermatitis that involves the eyelid. tmpaxzxjjyw_mondo_relaxed.owl eyelid allergic contact dermatitis|contact and allergic dermatitis of eyelid ICD9:692.9|UMLS:C0155178|ICD9:373.32|SCTID:402249007|DOID:1895 owl:Class HGNC:4281 biolink:NamedThing GJA8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00000016 biolink:NamedThing sea A large expanse of saline water usually connected with an ocean. tmpaxzxjjyw_mondo_relaxed.owl marginal sea|closed sea|channel|sea|open sound|open sea|Sea|open water owl:Class ENVO:00002149 biolink:NamedThing sea water Water which has physicochemical properties that have been determined by the processes occuring in a sea or ocean. tmpaxzxjjyw_mondo_relaxed.owl seawater|ocean water owl:Class MONDO:0012419 biolink:NamedThing age related macular degeneration 7 Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene. tmpaxzxjjyw_mondo_relaxed.owl age related macular degeneration type 7|ARMD7|macular degeneration, age-related, 7|age-related macular degeneration caused by mutation in HTRA1|macular Degeneration, age-related, neovascular type, susceptibility to|macular Degeneration, age-related, wet type, susceptibility to|HTRA1 age-related macular degeneration|macular Degeneration, age-related, type 7 UMLS:C1857813|OMIM:610149|MESH:C565718|DOID:0110019 owl:Class MONDO:0012011 biolink:NamedThing coronary artery disease, autosomal dominant, 1 Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene. tmpaxzxjjyw_mondo_relaxed.owl coronary artery disease caused by mutation in MEF2A|coronary artery disease, autosomal dominant, 1|coronary artery disease, autosomal dominant, type 1|ADCAD1|MEF2A coronary artery disease|coronary artery disease with myocardial infarction UMLS:C1842247|OMIM:608320|MESH:C564258 owl:Class HGNC:6993 biolink:NamedThing MEF2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009030 biolink:NamedThing left pulmonary vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000086 biolink:NamedThing zona pellucida tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013756 biolink:NamedThing venous blood tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000079 biolink:NamedThing mesenchymal stem cell of femoral bone marrow Any mesenchymal stem cell of the bone marrow that is part of a femur. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-12-02T19:07:31Z cell owl:Class MONDO:0009947 biolink:NamedThing glutathione synthetase deficiency with 5-oxoprolinuria tmpaxzxjjyw_mondo_relaxed.owl GSSD|5-oxoprolinuria|pyroglutamic aciduria|glutathione synthetase deficiency SCTID:39112005|Orphanet:289846|ICD9:270.8|OMIM:266130|Orphanet:32|UMLS:C0398746|ICD10:D55.1 owl:Class MONDO:0012756 biolink:NamedThing proximal 16p11.2 microdeletion syndrome A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. tmpaxzxjjyw_mondo_relaxed.owl 16p11.2 deletion syndrome|monosomy 16p11.2|autism, susceptibility to, 14A|microdeletion 16p11.2|chromosome 16p11.2 deletion syndrome, 593-KB|proximal del(16)(p11.2)|chromosome 16p11.2 deletion syndrome|Del(16)(p11.2)|proximal monosomy 16p11.2 OMIM:611913|MESH:C579850|ICD10:Q93.5|NCIT:C120408|SCTID:718227006|UMLS:CN202166|GARD:0010740|ICD9:758.39|Orphanet:261197|SCTID:699307007 https://rarediseases.info.nih.gov/diseases/10740/16p112-deletion-syndrome owl:Class MONDO:0004492 biolink:NamedThing mediastinitis An inflammatory process affecting the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl MESH:D008480|ICD10:J98.5|DOID:819|SCTID:47597000|ICD10:J98.51|NCIT:C26827|ICD9:519.2|UMLS:C0025064 There is a question whether the inflammation site is the mediastinum itself or the mediastinal pleura. We are using mediastinum here to be consistent with the definition and classification from NCIT. https://github.com/monarch-initiative/mondo/issues/2198 owl:Class UBERON:0003931 biolink:NamedThing diencephalic white matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014637 biolink:NamedThing thoracic spinal cord white matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002807 biolink:NamedThing right occipital lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002813 biolink:NamedThing right cerebral hemisphere tmpaxzxjjyw_mondo_relaxed.owl owl:Class ExO:0000001 biolink:NamedThing exposure_receptor An entity (e.g., a human, human population, or a human organ) that interacts with an exposure stressor during an exposure event. tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr9q biolink:NamedThing 9q (Human) tmpaxzxjjyw_mondo_relaxed.owl 138394717 43000000 hg38 owl:Class HGNC:2198 biolink:NamedThing COL1A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014571 biolink:NamedThing optic atrophy 9 tmpaxzxjjyw_mondo_relaxed.owl OPA9|ACO2 autosomal recessive isolated optic atrophy|autosomal recessive isolated optic atrophy caused by mutation in ACO2|optic atrophy 9 OMIM:616289|DOID:0111442|UMLS:C4085249 owl:Class HGNC:118 biolink:NamedThing ACO2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011232 biolink:NamedThing migraine, familial hemiplegic, 2 Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene. tmpaxzxjjyw_mondo_relaxed.owl familial hemiplegic migraine type 2|familial or sporadic hemiplegic migraine caused by mutation in ATP1A2|ATP1A2 familial or sporadic hemiplegic migraine|migraine, familial hemiplegic, type 2|FHM2|Mhp2|migraine, familial basilar|hemiplegic migraine, familial type 2|migraine, familial hemiplegic, 2 DOID:0111182|GARD:0010095|OMIM:602481|UMLS:C1865322|Orphanet:569 owl:Class MONDO:0011544 biolink:NamedThing paragangliomas 3 Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene. tmpaxzxjjyw_mondo_relaxed.owl paragangliomas 3|PGL3|SDHC paraganglioma|glomus tumors, familial, 3|paraganglioma caused by mutation in SDHC|SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)|paragangliomas type 3 UMLS:C1854336|OMIM:605373|Orphanet:29072|GARD:0010545 https://rarediseases.info.nih.gov/diseases/10545/paragangliomas-3 owl:Class MONDO:0016986 biolink:NamedThing congenital smooth muscle hamartoma Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:263435|UMLS:C0406819|ICD9:759.6|SCTID:239144007 owl:Class MONDO:0022755 biolink:NamedThing chromosome 18 mosaic monosomy tmpaxzxjjyw_mondo_relaxed.owl Mosaic monosomy 18|monosomy 18 mosaicism|Mosaic monosomy chromosome 18 UMLS:CN036727|GARD:0003726|MESH:C536581 owl:Class HP:0100247 biolink:NamedThing Recurrent singultus A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. tmpaxzxjjyw_mondo_relaxed.owl Recurrent synchronous diaphragmatic flutter|Hiccups|Recurrent hiccough|Recurrent hiccup|Hiccup MSH:D006606|SNOMEDCT_US:65958008|UMLS:C0744897|UMLS:C0019521 A bout of hiccups, in general, resolves itself without intervention, although many home remedies claim to shorten the duration, and medical treatment is occasionally necessary in cases of chronic hiccups. Hiccups are caused by many central and peripheral nervous system disorders, all from injury or irritation to the phrenic and vagus nerves, as well as toxic or metabolic disorders affecting the aforementioned systems. Hiccups often occur after consuming carbonated beverages, alcohol, dry breads, or spicy foods. Prolonged laughter or eating too fast are also known to cause hiccups. Persistent or intractable hiccups may be caused by any condition which irritates or damages the relevant nerves. doelkens 2010-07-08T05:28:00Z human_phenotype owl:Class MONDO:0009606 biolink:NamedThing methemoglobinemia due to deficiency of methemoglobin reductase tmpaxzxjjyw_mondo_relaxed.owl methemoglobinemia, congenital, autosomal recessive|NADH cytochrome B5 reductase deficiency|NADH diaphorase deficiency|NADH-dependent methemoglobin reductase deficiency|NADH methemoglobin reductase deficiency|methemoglobinemia, type 1|methemoglobinemia due to deficiency of methemoglobin reductase|NADH-cytochrome B5 reductase deficiency|NADH-cytochrome B5 reductase deficiency, type 2|NADH-cytochrome B5 reductase deficiency, type 1|methemoglobinemia, type 2 Orphanet:621|OMIM:250800|GARD:0003909 owl:Class HGNC:2873 biolink:NamedThing CYB5R3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:5693 biolink:NamedThing Trypanosoma cruzi tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009605 biolink:NamedThing methemoglobinemia type 4 Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene. tmpaxzxjjyw_mondo_relaxed.owl methemoglobinemia caused by mutation in CYB5A|methemoglobinemia type IV|methemoglobinemia type 4|methemoglobinemia due to deficiency of cytochrome B5|CYB5A methemoglobinemia|METAG|methemoglobinemia due to deficiency of cytochrome B5, formerly|methemoglobinemia type IV, formerly|methemoglobinemia and ambiguous genitalia|isolated 17,20-lyase deficiency, Pure Orphanet:621|UMLS:C2673427|OMIM:250790|MESH:C567102 owl:Class HGNC:2570 biolink:NamedThing CYB5A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044101 biolink:NamedThing pregnancy, cornual An abnormal pregnancy in which the conception is implanted and develops in the cornu of uterus. tmpaxzxjjyw_mondo_relaxed.owl cornual pregnancy|uterine horn ectopic pregnancy|cornual Pregnancies|Pregnancies, cornual|rudimentary horn pregnancy|ectopic pregnancy of uterine horn NCIT:C92761|MESH:D065173|SCTID:87605005 owl:Class CL:0000973 biolink:NamedThing IgA memory B cell A class switched memory B cell that expresses IgA. tmpaxzxjjyw_mondo_relaxed.owl memory IgA B-cell|memory IgA B-lymphocyte|IgA memory B-cell|IgA memory B-lymphocyte|memory IgA B lymphocyte|memory IgA B cell|IgA memory B lymphocyte IgA memory B cell are also reportedly RORalpha-positive. cell owl:Class MONDO:0013216 biolink:NamedThing Diamond-Blackfan anemia 9 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene. tmpaxzxjjyw_mondo_relaxed.owl RPS10 Diamond-Blackfan anemia|Diamond-Blackfan Anemia type 9|DBA9|Diamond-Blackfan anemia 9|Diamond-Blackfan anemia caused by mutation in RPS10 MESH:C567650|UMLS:C2750081|Orphanet:124|OMIM:613308 owl:Class HGNC:10383 biolink:NamedThing RPS10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013444 biolink:NamedThing nephronophthisis 9 Any nephronophthisis in which the cause of the disease is a mutation in the NEK8 gene. tmpaxzxjjyw_mondo_relaxed.owl nephronophthisis 9|nephronophthisis (disease) caused by mutation in NEK8|nephronophthisis type 9|NEK8 nephronophthisis (disease)|NPHP9 DOID:0111120|UMLS:C3151188|OMIM:613824|Orphanet:655 owl:Class HGNC:3606 biolink:NamedThing FBP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013549 biolink:NamedThing N-acetylaspartate deficiency tmpaxzxjjyw_mondo_relaxed.owl N-acetylaspartate deficiency|hypoacetylaspartia|NACED|naa deficiency UMLS:C3279716|OMIM:614063 owl:Class HGNC:26742 biolink:NamedThing NAT8L tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008231 biolink:NamedThing dorsal thoracic segment of trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001596 biolink:NamedThing Alopecia A noncongenital process of hair loss, which may progress to partial or complete baldness. tmpaxzxjjyw_mondo_relaxed.owl Hair loss MSH:D000505|SNOMEDCT_US:56317004|UMLS:C0002170|MEDDRA:10001760|SNOMEDCT_US:278040002 HP:0002238|HP:0008068 human_phenotype owl:Class UBERON:0006875 biolink:NamedThing embryonic handplate tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011772 biolink:NamedThing lower jaw opening tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr18p biolink:NamedThing 18p (Human) tmpaxzxjjyw_mondo_relaxed.owl 18500000 0 hg38 owl:Class MONDO:0020730 biolink:NamedThing carpal tunnel syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl CTS|carpal tunnel syndrome|CTS1|amyotrophy, thenar, of carpal origin OMIM:115430 owl:Class UBERON:0006304 biolink:NamedThing future trigeminal ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006542 biolink:NamedThing outer medulla outer stripe loop of Henle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004202 biolink:NamedThing kidney outer medulla outer stripe tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:25805 biolink:NamedThing oxygen atom tmpaxzxjjyw_mondo_relaxed.owl oxygene|oxygen|O|Sauerstoff|oxigeno|8O owl:Class MONDO:0013885 biolink:NamedThing Malan overgrowth syndrome Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies. tmpaxzxjjyw_mondo_relaxed.owl Sotos syndrome type 2|Sotos syndrome 2|Malan syndrome|SOTOS2 SCTID:763795006|UMLS:C3553660|Orphanet:420179|OMIM:614753|ICD10:Q87.3 owl:Class HGNC:14880 biolink:NamedThing GTPBP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:15517 biolink:NamedThing XYLT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004048 biolink:NamedThing immature gastric teratoma A malignant teratoma that arises from the stomach. tmpaxzxjjyw_mondo_relaxed.owl malignant teratoma of stomach|malignant teratoma of the stomach|immature gastric teratoma|stomach malignant teratoma|malignant gastric teratoma UMLS:C1334151|DOID:6948|NCIT:C5256 owl:Class HGNC:7060 biolink:NamedThing MGP tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048666 biolink:NamedThing neuron development The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018239 biolink:NamedThing rhombomere boundary tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032275 biolink:NamedThing luteinizing hormone secretion The regulated release of luteinizing hormone, a gonadotropic glycoprotein hormone secreted by the anterior pituitary. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005673 biolink:NamedThing left lung endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000109 biolink:NamedThing 15-year-old human stage Adolescent stage that refers to an adolescent who is over 15 and under 16 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008824 biolink:NamedThing duct of epididymis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006230 biolink:NamedThing extrinsic ocular pre-muscle mass tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10555 biolink:NamedThing ATXN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013618 biolink:NamedThing craniofacial anomalies and anterior segment dysgenesis syndrome tmpaxzxjjyw_mondo_relaxed.owl craniofacial anomalies and anterior segment dysgenesis syndrome|CAASDS OMIM:614195|UMLS:C3280099 owl:Class MONDO:0007599 biolink:NamedThing factor 9 and Factor XI, combined deficiency of tmpaxzxjjyw_mondo_relaxed.owl factor IX and factor XI, combined deficiency OF|familial multiple coagulation Factor deficiency 6|multiple coagulation Factor deficiency 6 MESH:C565022|OMIM:134540|UMLS:C1851374 owl:Class HP:0001929 biolink:NamedThing Reduced factor XI activity Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. tmpaxzxjjyw_mondo_relaxed.owl Low factor XI activity|Factor XI deficiency MSH:D005173|SNOMEDCT_US:49762007|UMLS:C0015523 human_phenotype owl:Class HGNC:1348 biolink:NamedThing SAMD9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013463 biolink:NamedThing dextro-looped transposition of the great arteries 3 Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene. tmpaxzxjjyw_mondo_relaxed.owl transposition of the great arteries, dextro-looped type 3|congenital heart defects, multiple types, 6|dextro-looped transposition of the great arteries type 3|DTGA3|dextro-looped transposition of the great arteries caused by mutation in GDF1|transposition of the great arteries, dextro-looped 3, formerly|GDF1 dextro-looped transposition of the great arteries|transposition of the great arteries, dextro-looped 3|CHTD6 ICD10:Q20.3|UMLS:C3151221|DOID:0060772|Orphanet:860|OMIM:613854 owl:Class HGNC:4214 biolink:NamedThing GDF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001118 biolink:NamedThing cattle dairy food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024642 biolink:NamedThing gastric neuroendocrine tumor G2 A well differentiated, intermediate grade tumor with neuroendocrine differentiation that arises from the stomach. The mitotic count is 2-20 per 10 HPF and/or the Ki67 index is 3 to 20 percent. tmpaxzxjjyw_mondo_relaxed.owl gastric neuroendocrine tumor G2|gastric NET G2 NCIT:C95880|UMLS:C3272407 owl:Class FOODON:03420294 biolink:NamedThing fruit peel (anatomical part) The rind or skin of fruit tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:177 biolink:NamedThing ACY1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012031 biolink:NamedThing platelet-type bleeding disorder 10 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the CD36 gene. tmpaxzxjjyw_mondo_relaxed.owl platelet glycoprotein IV deficiency|bleeding disorder, Platelet-type, 10|BDPLT10|CD36 inherited bleeding disorder, platelet-type|inherited bleeding disorder, platelet-type caused by mutation in CD36|platelet-type bleeding disorder 10|CD36 deficiency|platelet glycoprotein 4 deficiency OMIM:608404|MESH:C564245|DOID:0111046|UMLS:C1842090 owl:Class HGNC:1663 biolink:NamedThing CD36 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:46580 biolink:NamedThing Spirometra tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:1001611 biolink:NamedThing cerebellar neuron Neuron of the cerebellum. tmpaxzxjjyw_mondo_relaxed.owl cerebellum neuron CALOHA:TS-2359|FMA:84665 owl:Class HGNC:1142 biolink:NamedThing BTNL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014377 biolink:NamedThing developmental and epileptic encephalopathy, 24 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene. tmpaxzxjjyw_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in HCN1|epileptic encephalopathy, early infantile, 24|HCN1 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 24|DEE24|EIEE24 DOID:0080429|OMIM:615871|UMLS:C4014531 owl:Class HP:0000522 biolink:NamedThing Alacrima Absence of tear secretion. tmpaxzxjjyw_mondo_relaxed.owl Absent tear secretion|Absence of tears in the eyes|Absent lacrimal fluids SNOMEDCT_US:253215004|MSH:C562827|UMLS:C0344505 Alacrima is generally a congenital deficiency. human_phenotype owl:Class UBERON:0011270 biolink:NamedThing dorsal trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019947 biolink:NamedThing rippling muscle disease 2 An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype. tmpaxzxjjyw_mondo_relaxed.owl CAV3 autosomal dominant limb-girdle muscular dystrophy|rippling muscle disease type 2|muscular dystrophy, limb-girdle, type IC|limb-girdle muscular dystrophy due to caveolin-3 deficiency|LGMD1C|rippling muscle disease 2|rippling muscle disease caused by mutation in CAV3|muscular dystrophy limb-girdle type IC|limb-girdle muscular dystrophy type 1C|autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3|CAV3 rippling muscle disease|muscular dystrophy, limb-girdle, type 1C|RMD2 OMIM:600332|Orphanet:97238|UMLS:C1832560|DOID:0060255|OMIM:606072|MONDO:0011910|NCIT:C148325 owl:Class HGNC:1529 biolink:NamedThing CAV3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000622 biolink:NamedThing Blurred vision Lack of sharpness of vision resulting in the inability to see fine detail. tmpaxzxjjyw_mondo_relaxed.owl Blurred vision SNOMEDCT_US:246636008|SNOMEDCT_US:111516008|UMLS:C0344232 This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. HP:0007723 human_phenotype owl:Class HGNC:19165 biolink:NamedThing TBC1D4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005151 biolink:NamedThing metanephric proximal tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014656 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene. tmpaxzxjjyw_mondo_relaxed.owl progressive external ophthalmoplegia, autosomal recessive 2|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2|progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2|PEOB2|RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions OMIM:616479|UMLS:C4225312|Orphanet:329336|DOID:0111515 owl:Class HGNC:18466 biolink:NamedThing RNASEH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1500 biolink:NamedThing CASP10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032611 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 6 tmpaxzxjjyw_mondo_relaxed.owl MC1DN6|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 OMIM:618228 owl:Class HGNC:7708 biolink:NamedThing NDUFS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0037847 biolink:NamedThing vertebral joint disorder A disease that involves the intervertebral joint. tmpaxzxjjyw_mondo_relaxed.owl disease of intervertebral joint|intervertebral joint disease or disorder|disease or disorder of intervertebral joint|intervertebral joint disease|disorder of intervertebral joint|spondyloarthropathy|disorder of joint of spine SCTID:372109003 owl:Class UBERON:0004876 biolink:NamedThing urogenital fold tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0034054 biolink:NamedThing severe combined immunodeficiency due to CD70 deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:538958|OMIM:618261 owl:Class MONDO:0012936 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl Clls5|leukemia, chronic lymphocytic, susceptibility to, 5|leukemia, chronic lymphocytic, susceptibility to, type 5 OMIM:612559|Orphanet:67038 owl:Class HGNC:4689 biolink:NamedThing GUCY2D tmpaxzxjjyw_mondo_relaxed.owl owl:Class N4edad04d600c4a80896c94450ce9f851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013899 biolink:NamedThing Weill-Marchesani syndrome 3 Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene. tmpaxzxjjyw_mondo_relaxed.owl Weill-Marchesani syndrome 3|WMS3|LTBP2 Weill-Marchesani syndrome|Weill-Marchesani syndrome type 3|Weill-Marchesani syndrome caused by mutation in LTBP2 OMIM:614819|Orphanet:3449|UMLS:C3553785 owl:Class UBERON:0010222 biolink:NamedThing anatomical line between pupils tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005613 biolink:NamedThing left dorsal aorta tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7610 biolink:NamedThing MYOC tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005038 biolink:NamedThing mucosa of segmental bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004877 biolink:NamedThing transient neonatal thrombocytopenia tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158991|ICD9:776.1|SCTID:23205009|DOID:9771|ICD10:P61.0 owl:Class MONDO:0010615 biolink:NamedThing isolated growth hormone deficiency type III tmpaxzxjjyw_mondo_relaxed.owl IGHD3|congenital isolated GH deficiency type III|hypogammaglobulinemia and isolated Growth hormone deficiency, X-linked|congenital isolated growth hormone deficiency type III|IGHD III|X-linked agammaglobulinemia and isolated growth hormone deficiency|isolated growth hormone deficiency type 3|Fleisher syndrome|X-linked isolated growth hormone deficiency|X-linked IGHD|agammaglobulinemia and isolated Growth hormone deficiency, X-linked|IGHD 3|congenital IGHD type III|growth hormone deficiency with hypogammaglobulinemia|isolated growth hormone deficiency, type III|Growth hormone deficiency with hypogammaglobulinemia|isolated growth hormone deficiency type III|X-linked hypogammaglobulinemia and isolated growth hormone deficiency|isolated growth hormone deficiency, type 3 MESH:C537149|Orphanet:632|OMIM:300123|GARD:0003921|DOID:0060875|OMIM:307200|SCTID:234533006|Orphanet:631|Orphanet:231692|ICD10:E23.0 https://rarediseases.info.nih.gov/diseases/3921/isolated-growth-hormone-deficiency-type-3 owl:Class UBERON:0007500 biolink:NamedThing epithelial tube open at both ends tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001239 biolink:NamedThing forest canopy tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008734 biolink:NamedThing adrenocortical carcinoma, hereditary An instance of adrenal cortex carcinoma that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl adrenocortical carcinoma, hereditary|hereditary adrenal cortex carcinoma|ADCC|adrenocortical carcinoma, pediatric OMIM:202300|UMLS:C1859972|Orphanet:1501 owl:Class UBERON:0000314 biolink:NamedThing cecum mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014521 biolink:NamedThing progressive myoclonic epilepsy type 7 Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCNC1 gene. tmpaxzxjjyw_mondo_relaxed.owl myoclonus epilepsy and ataxia due to potassium channel mutation|EPM7|progressive myoclonic epilepsy due to KV3.1 deficiency|epilepsy, progressive myoclonic 7|progressive myoclonus epilepsy type 7|PME type 7|KCNC1 progressive myoclonic epilepsy|epilepsy, progressive myoclonic type 7|progressive myoclonic epilepsy caused by mutation in KCNC1|meak ICD10:G40.3|OMIM:616187|NCIT:C142804|Orphanet:435438|DOID:0111447|UMLS:C4015420 owl:Class HGNC:6233 biolink:NamedThing KCNC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9039 biolink:NamedThing PLA2G6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003414 biolink:NamedThing skin pilomatrix carcinoma A very rare, locally aggressive, malignant neoplasm of the hair follicle. The majority of the cases arise de novo, however malignant transformation from a pre-existing pilomatricoma has been reported. It usually presents as a solitary nodule in the head and neck, upper extremities, or buttocks. Morphologically, it is characterized by the presence of aggregates of basaloid cells infiltrating the dermis. Masses of ghost cells are present in the cellular aggregates. Complete surgical excision is the treatment of choice. If it is not completely removed, it usually recurs, but it rarely metastasizes to distant anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl invasive pilomatrixoma|pilomatrix carcinoma|matrical carcinoma|malignant pilomatricoma|calcifying epitheliocarcinoma|Pilomatrical carcinoma|calcified epithelial carcinoma of Malherbe|pilomatrix skin carcinoma|pilomatricoma, malignant|pilomatrix carcinoma of the skin|Trichomatrical carcinoma|pilomatrix carcinoma of skin NCIT:C4114|DOID:5376|Orphanet:499182|ICDO:8110/3|ICD10:C44.4|SCTID:307610008|ICD10:C44.3|UMLS:C0585475 owl:Class HP:0001419 biolink:NamedThing X-linked recessive inheritance A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. tmpaxzxjjyw_mondo_relaxed.owl X-linked recessive UMLS:C1845977 human_phenotype owl:Class ENVO:01001201 biolink:NamedThing marine environmental zone An environmental zone which is bounded by material parts of a marine environment. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000064 biolink:NamedThing ciliated cell A cell that has a filiform extrusion of the cell surface. tmpaxzxjjyw_mondo_relaxed.owl XAO:0000031|VHOG:0001532 cell owl:Class UBERON:0005311 biolink:NamedThing mammary placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:26348 biolink:NamedThing prosthetic group A tightly bound, specific nonpolypeptide unit in a protein determining and involved in its biological activity. tmpaxzxjjyw_mondo_relaxed.owl prosthetic group|prosthetic groups|groupe prosthetique owl:Class MONDO:0018184 biolink:NamedThing gastric linitis plastica Gastric linitis plastica (gastric LP) is a malignant, diffuse, infiltrative gastric adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl linitis plastica of the stomach|Borrmann gastric cancer type 4 SCTID:721629005|ICD10:C16.9|Orphanet:36273|UMLS:CN204677 owl:Class MONDO:0014600 biolink:NamedThing dyskeratosis congenita, autosomal recessive 6 Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene. tmpaxzxjjyw_mondo_relaxed.owl dyskeratosis congenita, autosomal recessive type 6|PARN dyskeratosis congenita|dyskeratosis congenita caused by mutation in PARN|autosomal recessive dyskeratosis congenita 6|dyskeratosis congenita, autosomal recessive 6|DKCB6 Orphanet:3322|OMIM:616353|Orphanet:1775|DOID:0070024|UMLS:C4225356 owl:Class HGNC:8609 biolink:NamedThing PARN tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:41609 biolink:NamedThing carbonate tmpaxzxjjyw_mondo_relaxed.owl CO3(2-)|carbonate|[CO3](2-)|CARBONATE ION|trioxidocarbonate(2-)|Karbonat owl:Class MONDO:0014309 biolink:NamedThing obesity due to CEP19 deficiency tmpaxzxjjyw_mondo_relaxed.owl morbid obesity and spermatogenic failure|MOSPGF Orphanet:397615|ICD10:E66.8|OMIM:615703|UMLS:C3810324 owl:Class CL:0002033 biolink:NamedThing short term hematopoietic stem cell A hematopoietic stem cell capable of rapid replenishment of myeloerythroid progenitors and limited self renewal capability. This cell is Kit-positive, Sca1-positive, CD34-positive, CD150-positive, and is Flt3-negative. tmpaxzxjjyw_mondo_relaxed.owl ST-HSC|ST stem cell Markers are associated with mouse cells. These cells are also reportedly CD11b-low and CD90-low. tmeehan 2010-01-08T09:19:25Z cell owl:Class CL:0002034 biolink:NamedThing long term hematopoietic stem cell A hematopoietic stem cell with long term self renewal capability. This cell is Kit-positive, Sca1-positive, CD150-positive, CD90-low, CD34-negative and Flt3-negative. tmpaxzxjjyw_mondo_relaxed.owl LT-HSC|LT stem cell Markers are associated with mouse cells. tmeehan 2010-01-08T09:19:28Z cell owl:Class FOODON:03400172 biolink:NamedThing prepared food product (us cfr) Food product that is 1) ready or nearly ready for consumption; 2) usually a composite of several foods or ingredients that often belong to distinct product types; 3) usually formulated, mixed and partially or fully cooked. Prepared foods often undergo several of the processes listed in *F. EXTENT OF HEAT TREATMENT* and *H. TREATMENT APPLIED*; these factors should be carefully considered in indexing. The classification of prepared food products emphasizes consumption characteristics. [FDA CFSAN 1995] tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0172 prepared dish http://langual.org owl:Class UBERON:0004136 biolink:NamedThing intermediate tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25640 biolink:NamedThing UFSP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004311 biolink:NamedThing carcinoma of Cowper glands A carcinoma that involves the bulbo-urethral gland. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of Cowper glands|carcinoma of bulbo-urethral gland|Cowper gland carcinoma|bulbo-urethral gland carcinoma UMLS:C1516284|DOID:7632|NCIT:C39864 owl:Class MONDO:0014580 biolink:NamedThing intellectual disability, autosomal dominant 33 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant intellectual disability 33|mental retardation, autosomal dominant type 33|autosomal dominant non-syndromic intellectual disability 33|autosomal dominant mental retardation 33|mental retardation, autosomal dominant 33|MRD33|autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6|intellectual disability, autosomal dominant type 33|DPP6 autosomal dominant non-syndromic intellectual disability|intellectual disability, autosomal dominant 33 Orphanet:2514|DOID:0070063|OMIM:616311 owl:Class HsapDv:0000105 biolink:NamedThing 11-year-old human stage Child stage that refers to a child who is over 11 and under 12 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000618 biolink:NamedThing Blindness Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation. tmpaxzxjjyw_mondo_relaxed.owl Legal blindness|Total vision loss|Blindness UMLS:C0456909|MSH:D001766|UMLS:C0271215|Fyler:4866|SNOMEDCT_US:65956007 Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. HP:0007839 human_phenotype owl:Class MONDO:0012914 biolink:NamedThing chromosome 1q21.1 deletion syndrome 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome. tmpaxzxjjyw_mondo_relaxed.owl chromosome 1q21.1 deletion syndrome, 1.35-MB|1q21.1 microdeletion|Del(1)(q21)|monosomy 1q21.1|chromosome 1q21.1 microdeletion syndrome|1q21.1 microdeletion syndrome OMIM:612474|GARD:0010813|SCTID:699305004|ICD9:758.33|ICD10:Q93.5|DOID:0060411|Orphanet:250989 owl:Class OBO:CHR_9606-chr1q21.1 biolink:NamedThing 1q21.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 147500000 143200000 hg38 owl:Class GO:0042116 biolink:NamedThing macrophage activation A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. tmpaxzxjjyw_mondo_relaxed.owl macrophage polarization owl:Class HGNC:19368 biolink:NamedThing HYDIN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010161 biolink:NamedThing tyrosinemia type I Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone. tmpaxzxjjyw_mondo_relaxed.owl tyrosinemia, type I|tyrosinemia, type 1|FAH deficiency|hepatorenal tyrosinemia|type I tyrosinemia|tyrosinemia type I|tyrosinemia type 1|fumarylacetoacetase deficiency|Fah deficiency|fumarylacetoacetate hydrolase deficiency|TYRSN1 GARD:0002658|SCTID:410056006|ICD10:E70.2|MedDRA:10069462|Orphanet:882|UMLS:C0268490|NCIT:C98641|DOID:0050726|OMIM:276700 https://rarediseases.info.nih.gov/diseases/2658/tyrosinemia-type-1 owl:Class HGNC:8851 biolink:NamedThing PEX10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000972 biolink:NamedThing gallbladder lipoma A benign adipose tissue neoplasm involving the gallbladder wall. tmpaxzxjjyw_mondo_relaxed.owl lipoma of gall bladder|lipoma of gallbladder|gall bladder lipoma|lipoma of the gallbladder|gallbladder lipoma UMLS:C1333747|DOID:10201|NCIT:C5835 owl:Class OBO:CHR_9606-chr8q21 biolink:NamedThing 8q21 (Human) tmpaxzxjjyw_mondo_relaxed.owl 92300000 72000000 hg38 owl:Class MONDO:0022205 biolink:NamedThing pustular psoriasis tmpaxzxjjyw_mondo_relaxed.owl pustular psoriasis|Pustular psoriasis ICD9:696.1|GARD:0012813|MEDGEN:508876|UMLS:C0152081|SCTID:200973000 owl:Class NCBITaxon:471472 biolink:NamedThing Chlamydia trachomatis 434/Bu tmpaxzxjjyw_mondo_relaxed.owl Chlamydia trachomatis str. 434/Bu|Chlamydia trachomatis strain 434/Bu GC_ID:11 ncbi_taxonomy owl:Class UBERON:0009142 biolink:NamedThing entire embryonic mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr22q11.2 biolink:NamedThing 22q11.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 25500000 17400000 hg38 owl:Class HGNC:10664 biolink:NamedThing CWC27 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016884 biolink:NamedThing partial deletion of the short arm of chromosome 2 tmpaxzxjjyw_mondo_relaxed.owl partial monosomy of chromosome 2p|partial deletion of chromosome 2p|partial deletion of the short arm of chromosome type 2|partial monosomy of the short arm of chromosome 2 Orphanet:261866|ICD10:Q93.5 owl:Class ENVO:00000304 biolink:NamedThing shore That part of the land in immediate contact with a body of water including the area between high and low water lines. tmpaxzxjjyw_mondo_relaxed.owl beach face|coastal zone|foreshore|shore|seashore|strand|shoreface|rivage|SHORE|inshore owl:Class HGNC:6415 biolink:NamedThing KRT13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100428 biolink:NamedThing progressive bulbar palsy of childhood A progressive bulbar palsy of childhood that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl Fazio-Londe disease OMIM:211500|SCTID:230246005|DOID:0080632|Orphanet:56965|UMLS:C0393540 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/127 owl:Class UBERON:0008425 biolink:NamedThing mammary ridge tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002543 biolink:NamedThing adult oligodendroglioma An oligodendroglioma occurring during adulthood. tmpaxzxjjyw_mondo_relaxed.owl oligodendroglioma|adult brain oligodendroglioma|adult oligodendroglioma|oligodendroglioma of adults|grade II adult oligodendroglial tumor NCIT:C4014|MESH:D009837|DOID:3186|UMLS:C0279070 owl:Class UBERON:0003856 biolink:NamedThing uncondensed odontogenic mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011408 biolink:NamedThing hereditary spastic paraplegia 10 Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case. tmpaxzxjjyw_mondo_relaxed.owl hereditary spastic paraplegia caused by mutation in KIF5A|spastic paraplegia 10 with or without peripheral neuropathy|hereditary spastic paraplegia type 10|spastic paraplegia 10, autosomal dominant|autosomal dominant spastic paraplegia type 10|spastic paraplegia 10|KIF5A hereditary spastic paraplegia|autosomal dominant spastic paraplegia|autosomal dominant spastic paraplegia 10|SPG10 UMLS:C4518536|UMLS:C1858712|GARD:0009590|SCTID:732948003|DOID:0110763|MESH:C537482|OMIM:604187|ICD10:G11.4|Orphanet:100991 owl:Class HGNC:6323 biolink:NamedThing KIF5A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013695 biolink:NamedThing colon endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013443 biolink:NamedThing Seckel syndrome 5 Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene. tmpaxzxjjyw_mondo_relaxed.owl Seckel syndrome caused by mutation in CEP152|Seckel syndrome type 5|SCKL5|CEP152 Seckel syndrome|Seckel syndrome 5 UMLS:C3151187|Orphanet:808|OMIM:613823|DOID:0070012 owl:Class MONDO:0060677 biolink:NamedThing chromosome 1p35 deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl chromosome 1p35 deletion syndrome UMLS:CN244562|OMIM:617930 owl:Class OBO:CHR_9606-chr1p35 biolink:NamedThing 1p35 (Human) tmpaxzxjjyw_mondo_relaxed.owl 34300000 27600000 hg38 owl:Class OBO:CHR_9606-chr1p36 biolink:NamedThing 1p36 (Human) tmpaxzxjjyw_mondo_relaxed.owl 27600000 0 hg38 owl:Class CHEBI:57934 biolink:NamedThing psychosine(1+) The ammonium ion resulting from the protonation of the amino group of psychosine. tmpaxzxjjyw_mondo_relaxed.owl (2S,3R,4E)-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-en-2-aminium|(2S,3R,4E)-3-hydroxy-1-{[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}octadec-4-en-2-aminium|beta-D-galactosyl-(1<->1)-sphing-4-enine owl:Class HGNC:18802 biolink:NamedThing ATPAF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009878 biolink:NamedThing pituitary hormone deficiency, combined, 2 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene. tmpaxzxjjyw_mondo_relaxed.owl pituitary dwarfism 3|Hanhart dwarfism|PROP1 combined pituitary hormone deficiencies, genetic form|combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1|ateliotic dwarfism with hypogonadism|panhypopituitarism|pituitary hormone deficiency, combined, 2|CPHD2|pituitary hormone deficiency, combined, type 2 Orphanet:95494|Orphanet:90695|UMLS:C0878683|OMIM:262600 owl:Class HP:0000651 biolink:NamedThing Diplopia Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. tmpaxzxjjyw_mondo_relaxed.owl Double vision SNOMEDCT_US:24982008|UMLS:C0012569|MSH:D004172 human_phenotype owl:Class HsapDv:0000116 biolink:NamedThing 22-year-old human stage Young adult stage that refers to an adult who is over 22 and under 23. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004993 biolink:NamedThing mucosa of sigmoid colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007562 biolink:NamedThing multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits. tmpaxzxjjyw_mondo_relaxed.owl multiple epiphyseal dysplasia-myopia-deafness syndrome|epiphyseal dysplasia, multiple, with myopia and conductive deafness|EDMMD Orphanet:166011|ICD10:Q77.3|SCTID:719689005|DOID:0111348|MESH:C565046|OMIM:132450 owl:Class MONDO:0013588 biolink:NamedThing Perrault syndrome 3 Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 81, formerly|Perrault syndrome 3|deafness, autosomal recessive 81|Perrault syndrome caused by mutation in CLPP|Perrault syndrome type 3|PRLTS3|CLPP Perrault syndrome OMIM:614129|Orphanet:2855|UMLS:C3808414 based on OMIM phenotypic series 220290. owl:Class MONDO:0011639 biolink:NamedThing Diamond-Blackfan anemia 15 with mandibulofacial dysostosis Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene. tmpaxzxjjyw_mondo_relaxed.owl Diamond-Blackfan anemia caused by mutation in RPS28|DBA15|RPS28 Diamond-Blackfan anemia|Diamond-Blackfan anemia 15 with mandibulofacial dysostosis UMLS:C1853576|UMLS:C4225411|Orphanet:124|OMIM:606164 Not in the OMIM series 105650. owl:Class PATO:0001545 biolink:NamedThing inflexible A physical quality inhering in a bearer by virtue of the bearer's inability of being turned, bowed, or twisted without breaking. tmpaxzxjjyw_mondo_relaxed.owl stiff|stiffness owl:Class GO:0060560 biolink:NamedThing developmental growth involved in morphogenesis The increase in size or mass of an anatomical structure that contributes to the structure attaining its shape. tmpaxzxjjyw_mondo_relaxed.owl differential growth owl:Class MONDO:0003548 biolink:NamedThing adenosquamous breast carcinoma An invasive breast carcinoma characterized by the presence of tubular and glandular neoplastic cell structures, admixed with islands of neoplastic cells showing squamous differentiation. tmpaxzxjjyw_mondo_relaxed.owl metaplastic adenosquamous carcinoma|breast adenosquamous carcinoma|adenosquamous breast carcinoma ONCOTREE:MASC|UMLS:C1510796|NCIT:C40361|DOID:5623 Editor note: check ONCOTREE mapping owl:Class HP:0001718 biolink:NamedThing Mitral stenosis An abnormal narrowing of the orifice of the mitral valve. tmpaxzxjjyw_mondo_relaxed.owl Mitral valve stenosis UMLS:C0026269|Fyler:1511|SNOMEDCT_US:79619009|ICD-10:Q23.2|EPCC:06.02.92|MSH:D008946 HP:0005163 human_phenotype owl:Class MONDO:0011529 biolink:NamedThing spinocerebellar ataxia type 13 Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia. tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia, autosomal dominant with intellectual disability|SCA13|autosomal dominant cerebellar ataxia with mental retardation|cerebellar ataxia, autosomal dominant with mental retardation|autosomal dominant cerebellar ataxia with intellectual disability|spinocerebellar ataxia 13|spinocerebellar ataxia type 13 ICD10:G11.2|GARD:0009611|UMLS:C4304884|DOID:0050963|MESH:C537195|OMIM:605259|SCTID:719209002|UMLS:C1854488|Orphanet:98768 owl:Class HGNC:6235 biolink:NamedThing KCNC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:30611 biolink:NamedThing STT3B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100196 biolink:NamedThing TPM2-related myopathy A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree. tmpaxzxjjyw_mondo_relaxed.owl TPM2 myopathy|autosomal dominant TPM2-related myopathy|TPM2-related myopathy|congenital myopathy related to TPM2 The most penetrant phenotype among all of the TPM2-related myopathy disease entities is muscular weakness. Notably, other developmental disorders such as distal arthrogryposis have also been reported in association with TPM2 mutations. While phenotypic and mechanistic similarities demonstrate that the TPM2-related myopathy disorders share a similar pathogenic mechanism, these developmental disorders characterized primarily by contractures are not considered part of the same spectrum as this entity. http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013479 biolink:NamedThing dilated cardiomyopathy 1HH Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene. tmpaxzxjjyw_mondo_relaxed.owl familial isolated dilated cardiomyopathy caused by mutation in BAG3|BAG3 familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, 1HH|cardiomyopathy, dilated, type 1Hh|dilated cardiomyopathy type 1HH|CMD1HH OMIM:613881|DOID:0110448|UMLS:C3151293|Orphanet:154|ICD10:I42.0 owl:Class MONDO:0014570 biolink:NamedThing lethal congenital contracture syndrome 8 Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene. tmpaxzxjjyw_mondo_relaxed.owl ADCY6 lethal congenital contracture syndrome|LCCS8|lethal congenital contracture syndrome type 8|lethal congenital contracture syndrome 8|lethal congenital contracture syndrome caused by mutation in ADCY6 UMLS:C4225385|Orphanet:2680|OMIM:616287 owl:Class HGNC:237 biolink:NamedThing ADCY6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013241 biolink:NamedThing embryonic urethral groove tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013328 biolink:NamedThing retinitis pigmentosa 58 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene. tmpaxzxjjyw_mondo_relaxed.owl ZNF513 retinitis pigmentosa|retinitis pigmentosa 58|retinitis pigmentosa caused by mutation in ZNF513|RP58|retinitis pigmentosa type 58 DOID:0110362|UMLS:C3150879|ICD10:H35.5|OMIM:613617 owl:Class HGNC:26498 biolink:NamedThing ZNF513 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012989 biolink:NamedThing microcephaly 7, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive primary microcephaly caused by mutation in STIL|STIL autosomal recessive primary microcephaly|MCPH7|microcephaly 7, primary, autosomal recessive MESH:C567198|OMIM:612703|Orphanet:2512|DOID:0070278|UMLS:C2675187 owl:Class MONDO:0014297 biolink:NamedThing Joubert syndrome 22 Any Joubert syndrome in which the cause of the disease is a mutation in the PDE6D gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome type 22|Joubert syndrome 22|PDE6D Joubert syndrome|JBTS22|Joubert syndrome caused by mutation in PDE6D UMLS:C3810278|Orphanet:2754|DOID:0110991|OMIM:615665 owl:Class HGNC:8788 biolink:NamedThing PDE6D tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012758 biolink:NamedThing prostate cancer, hereditary, 13 Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene. tmpaxzxjjyw_mondo_relaxed.owl prostate cancer, hereditary, type 13|prostate cancer, hereditary, 13|MSMB familial prostate cancer|familial prostate cancer caused by mutation in MSMB|HPC13 OMIM:611928|UMLS:C2677821|Orphanet:1331|MESH:C567456 owl:Class CL:0002608 biolink:NamedThing hippocampal neuron A neuron of the hippocampus. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T07:31:49Z cell owl:Class UBERON:0000309 biolink:NamedThing body wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002069 biolink:NamedThing Bilateral tonic-clonic seizure A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. tmpaxzxjjyw_mondo_relaxed.owl Tonic-clonic convulsions|Generalised tonic-clonic seizure (without specification of onset)|Generalized convulsion|Bilateral convulsive seizures|Seizures, tonic-clonic|Generalized tonic-clonic seizure (without specification of onset)|Generalised convulsion|Grand mal|Grand mal seizures|Tonic-clonic convulsion SNOMEDCT_US:54200006|UMLS:C0494475|MSH:D012640 A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. HP:0001306|HP:0007252|HP:0002407 human_phenotype owl:Class MONDO:0000936 biolink:NamedThing syphilitic meningitis An infectious meningitis caused by infection with Treponema. tmpaxzxjjyw_mondo_relaxed.owl syphilitic aseptic meningitis|meningeal syphilis|Treponema caused infectious meningitis|Treponema infectious meningitis|meningitis, syphilitic DOID:10073|SCTID:301086002|ICD9:094.2|GARD:0008731|UMLS:C0153166|MESH:C536775 owl:Class HGNC:8157 biolink:NamedThing SIGMAR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr4p16.3 biolink:NamedThing 4p16.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 4500000 0 hg38 owl:Class MONDO:0011104 biolink:NamedThing cataract 3 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the CRYBB2 gene. tmpaxzxjjyw_mondo_relaxed.owl cataract (disease) caused by mutation in CRYBB2|cataract 3, multiple types|cataract 3, multiple types, with or without microcornea|cataract 3 multiple types with or without microcornea|congenital cerulean type cataract 2|CTRCT3|CRYBB2 cataract (disease)|CCA2|cataract, congenital, cerulean type, 2 Orphanet:91492|OMIM:601547|DOID:0110269|UMLS:C1832175|ICD10:Q12.0|Orphanet:1377|Orphanet:98985|MESH:C563294|Orphanet:98989|Orphanet:98994|Orphanet:98991 owl:Class HGNC:2398 biolink:NamedThing CRYBB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003054 biolink:NamedThing benign meningioma A grade I, slowly growing meningioma. Only a minority of tumors recur following complete resection. tmpaxzxjjyw_mondo_relaxed.owl benign meningioma (WHO grade I)|meningioma, benign|meningioma (disease), benign SCTID:724171006|UMLS:C0281784|NCIT:C4055|DOID:4587|MESH:D008579 owl:Class NCBITaxon:1980456 biolink:NamedThing Andes orthohantavirus tmpaxzxjjyw_mondo_relaxed.owl Andes hantavirus|Andes virus GC_ID:1 NCBITaxon:46607 ncbi_taxonomy owl:Class UBERON:0009133 biolink:NamedThing pleuroperitoneal membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011944 biolink:NamedThing systemic lupus erythematosus with nephritis, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl SLEN3|systemic lupus erythematosus with nephritis, susceptibility to, 3 OMIM:607967 owl:Class HGNC:6055 biolink:NamedThing IMPG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000159 biolink:NamedThing seromucus secreting cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0014472 biolink:NamedThing periodic fever-infantile enterocolitis-autoinflammatory syndrome tmpaxzxjjyw_mondo_relaxed.owl NLRC4-related autoinflammatory syndrome with macrophage activation syndrome|NLRC4-related infantile enterocolitis-autoinflammatory syndrome|AUTOINFLAMMATION with infantile enterocolitis|AIFEC|NLRC4-related autoinflammatory syndrome with MAS|autoinflammation with infantile enterocolitis|NLRC4-related MAS|NLRC4-related macrophage activation syndrome Orphanet:436166|UMLS:C4015067|OMIM:616050|ICD10:E85.0 owl:Class HGNC:16412 biolink:NamedThing NLRC4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009470 biolink:NamedThing Baraitser-Winter syndrome 1 Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability with epilepsy and characteristic facies|Baraitser-Winter syndrome type 1|pachygyria, mental retardation, epilepsy, and characteristic facies|Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB|iris coloboma with ptosis, hypertelorism, and mental retardation|Baraitser-Winter syndrome 1|iris coloboma with ptosis, hypertelorism, and intellectual disability|pachygyria, intellectual disability, epilepsy, and characteristic facies|cerebrooculofacial lymphatic syndrome|Baraitser-WINTER syndrome 1|mental retardation with epilepsy and characteristic facies|Fryns-Aftimos syndrome|ACTB Baraitser-Winter cerebrofrontofacial syndrome|BRWS1|ACTB-related BAFopathy|chromosome 7P22 deletion syndrome|cerebrofrontofacial syndrome Orphanet:2995|UMLS:C1853623|UMLS:C1837819|OMIM:243310 owl:Class HGNC:132 biolink:NamedThing ACTB tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr14q11-q22 biolink:NamedThing 14q11-q22 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class UBERON:0001417 biolink:NamedThing skin of neck tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1497 biolink:NamedThing CASK tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005125 biolink:NamedThing metanephric proximal straight tubule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010926 biolink:NamedThing familial hypocalciuric hypercalcemia 3 Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene. tmpaxzxjjyw_mondo_relaxed.owl hypocalciuric hypercalcemia type III|FBHOk|hypocalciuric hypercalcemia, familial, type III|familial hypocalciuric hypercalcemia caused by mutation in AP2S1|hypercalcemia, familial benign, Oklahoma type|HHC3|FHH type 3|FBH3|familial benign hypercalcemia, type 3|familial hypocalciuric hypercalcemia type 3|hypocalciuric hypercalcemia, familial, type 3|familial benign hypercalcemia, Oklahoma variant|AP2S1 familial hypocalciuric hypercalcemia|hypercalcemia, familial benign, type 3 MESH:C537147|Orphanet:101050|OMIM:600740|GARD:0002878|Orphanet:405|UMLS:C1833372|DOID:0060702|ICD10:E83.5 owl:Class MONDO:0000681 biolink:NamedThing tactile agnosia An agnosia that is a loss of the ability to recognize or identify objects by touch alone. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060151 owl:Class GO:0050975 biolink:NamedThing sensory perception of touch The series of events required for an organism to receive a touch stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. The perception of touch in animals is mediated by mechanoreceptors in the skin and mucous membranes and is the sense by which contact with objects gives evidence as to certain of their qualities. Different types of touch can be perceived (for example, light, coarse, pressure and tickling) and the stimulus may be external or internal (e.g. the feeling of a full stomach). tmpaxzxjjyw_mondo_relaxed.owl perception of touch|tactile sense|tactition|taction owl:Class OBO:CHR_9606-chr20q11 biolink:NamedThing 20q11 (Human) tmpaxzxjjyw_mondo_relaxed.owl 39000000 28100000 hg38 owl:Class MONDO:0005676 biolink:NamedThing borna disease An encephalomyelitis of horses, sheep and cattle caused by borna disease virus. tmpaxzxjjyw_mondo_relaxed.owl enzootic encephalomyelitis EFO:0007178|MESH:D001890|DOID:5154|UMLS:C0006023 owl:Class NCBITaxon:12455 biolink:NamedThing Borna disease virus tmpaxzxjjyw_mondo_relaxed.owl BDV|Borna disease virus BDV PMID:25449305|GC_ID:1 ncbi_taxonomy owl:Class HGNC:815 biolink:NamedThing ATP2B2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:34613 biolink:NamedThing Ixodes ricinus tmpaxzxjjyw_mondo_relaxed.owl castor bean tick GC_ID:1 ncbi_taxonomy owl:Class N26659bdfa3c441578ef751d743649fcb biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:CHR_9606-chr6p2 biolink:NamedThing 6p2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 46200000 0 hg38 owl:Class GO:0002444 biolink:NamedThing myeloid leukocyte mediated immunity Any process involved in the carrying out of an immune response by a myeloid leukocyte. tmpaxzxjjyw_mondo_relaxed.owl myeloid leucocyte immune effector process|myeloid leucocyte mediated immunity|myeloid leukocyte immune effector process owl:Class MONDO:0014547 biolink:NamedThing combined oxidative phosphorylation defect type 24 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the NARS2 gene. tmpaxzxjjyw_mondo_relaxed.owl NARS2 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency type 24|COXPD24|combined oxidative phosphorylation deficiency caused by mutation in NARS2|combined oxidative phosphorylation deficiency 24 OMIM:616239|ICD10:G71.3|EFO:0009034|UMLS:C4015643|Orphanet:444458|DOID:0111485 owl:Class HGNC:26274 biolink:NamedThing NARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:8410042 biolink:NamedThing arteriole of lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033364 biolink:NamedThing developmental and epileptic encephalopathy, 55 tmpaxzxjjyw_mondo_relaxed.owl EIEE55|infantile epileptic encephalopathy 55|epileptic encephalopathy, early infantile, 55|DEE55|glycosylphosphatidylinositol biosynthesis defect 14 DOID:0080283|OMIM:617599|Orphanet:1934 owl:Class HGNC:3046 biolink:NamedThing PIGP tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011158 biolink:NamedThing primary subdivision of skull tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0050817 biolink:NamedThing coagulation The process in which a fluid solution, or part of it, changes into a solid or semisolid mass. tmpaxzxjjyw_mondo_relaxed.owl clotting owl:Class UBERON:0005289 biolink:NamedThing tela choroidea of telencephalic ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030424 biolink:NamedThing axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004637 biolink:NamedThing aryepiglottic fold cancer A malignant neoplasm involving the aryepiglottic fold. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of aryepiglottic fold|malignant aryepiglottic fold neoplasm|malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold|malignant tumor aryepiglottic fold - hypopharyngeal aspect|cancer of aryepiglottic fold|aryepiglottic fold cancer DOID:8663|ICD10:C13.1|SCTID:187708004|ICD9:148.2 owl:Class GO:0048332 biolink:NamedThing mesoderm morphogenesis The process in which the anatomical structures of the mesoderm are generated and organized. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003027 biolink:NamedThing thyroid gland angiosarcoma A usually aggressive malignant vascular tumor primarily involving the thyroid gland. It is often associated with longstanding nodular goiter. tmpaxzxjjyw_mondo_relaxed.owl angiosarcoma of the thyroid gland|hemangiosarcoma of the thyroid|hemangiosarcoma of the thyroid gland|angiosarcoma (disease) of thyroid gland|angiosarcoma of the thyroid|angiosarcoma of thyroid|hemangiosarcoma of thyroid gland|thyroid gland malignant hemangioendothelioma|thyroid angiosarcoma|thyroid gland hemangiosarcoma|angiosarcoma of thyroid gland|hemangiosarcoma of thyroid|thyroid gland angiosarcoma|thyroid hemangiosarcoma|thyroid gland angiosarcoma (disease) DOID:4514|NCIT:C6043|UMLS:C1336748 owl:Class HP:0000853 biolink:NamedThing Goiter An enlargement of the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl Enlarged thyroid gland in neck|Thyroid goiter|Thyroid goitre|Goitre MSH:D006042|UMLS:C0018021|SNOMEDCT_US:3716002 human_phenotype owl:Class MONDO:0011098 biolink:NamedThing prostate cancer, hereditary, 1 Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene. tmpaxzxjjyw_mondo_relaxed.owl Prca1|familial prostate cancer caused by mutation in RNASEL|prostate cancer, hereditary, 1|RNASEL familial prostate cancer|HPC1|prostate cancer, hereditary, type 1 UMLS:C2931456|OMIM:601518 owl:Class HGNC:10050 biolink:NamedThing RNASEL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011003 biolink:NamedThing dilated cardiomyopathy 1E Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene. tmpaxzxjjyw_mondo_relaxed.owl SCN5A familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, with conduction defect 2|dilated cardiomyopathy with conduction defect 2|CDCD2|dilated cardiomyopathy type 1E|cardiomyopathy, dilated, type 1E|CMD1E|cardiomyopathy dilated with conduction defect type 2|cardiomyopathy, dilated, 1E|dilated cardiomyopathy with conduction disorder and arrhythmia|cardiomyopathy, dilated, with conduction disorder and arrhythmia|familial isolated dilated cardiomyopathy caused by mutation in SCN5A Orphanet:154|UMLS:C1832680|DOID:0110433|MESH:C563384|ICD10:I42.0|GARD:0005644|OMIM:601154 https://rarediseases.info.nih.gov/diseases/5644/cardiomyopathy-dilated-with-conduction-defect-type-2 owl:Class HGNC:16791 biolink:NamedThing TSEN15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011858 biolink:NamedThing Reduced factor IX activity Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. tmpaxzxjjyw_mondo_relaxed.owl Low factor IX activity UMLS:C4023159 Severe deficiency of factor IX underlies hemophilia B. peter 2012-05-26T11:35:57Z human_phenotype owl:Class HGNC:33848 biolink:NamedThing COA5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000142 biolink:NamedThing 48-year-old human stage Middle aged stage that refers to an adult who is over 48 and under 49. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000141 biolink:NamedThing 47-year-old human stage Middle aged stage that refers to an adult who is over 47 and under 48. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002223 biolink:NamedThing ovarian malignant mesothelioma A rare malignant mesothelial neoplasm that usually involves both the ovarian surface and the ovarian stroma. In most cases there is bilateral ovarian involvement. tmpaxzxjjyw_mondo_relaxed.owl malignant mesothelioma (disease) of ovary|ovary malignant mesothelioma (disease)|ovarian malignant mesothelioma NCIT:C40444|DOID:2143|UMLS:C1518721 owl:Class OBO:CHR_9606-chr16q22 biolink:NamedThing 16q22 (Human) tmpaxzxjjyw_mondo_relaxed.owl 74100000 66600000 hg38 owl:Class MONDO:0042451 biolink:NamedThing endomyometritis An inflammation of the endometrium and the myometrium. tmpaxzxjjyw_mondo_relaxed.owl endomyometritis SCTID:88027004 owl:Class MONDO:0012162 biolink:NamedThing patterned macular dystrophy 2 Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene. tmpaxzxjjyw_mondo_relaxed.owl CTNNA1 patterned macular dystrophy|macular dystrophy, butterfly-Shaped pigmentary, 2|macular dystrophy, patterned, type 2|MDPT2|patterned macular dystrophy type 2|butterfly-shaped pigmentary maculary dystrophy 2|macular dystrophy, patterned, 2|patterned macular dystrophy caused by mutation in CTNNA1 UMLS:C1837029|DOID:0060864|OMIM:608970|Orphanet:99001 owl:Class GO:0007548 biolink:NamedThing sex differentiation The establishment of the sex of an organism by physical differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12428 biolink:NamedThing TWIST1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:22140 biolink:NamedThing FAM20C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009617 biolink:NamedThing microcephaly 1, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene. tmpaxzxjjyw_mondo_relaxed.owl MCPH1|PCC syndrome|microcephaly 1, primary, autosomal recessive|premature chromosome condensation syndrome|autosomal recessive primary microcephaly caused by mutation in MCPH1|MCPH1 autosomal recessive primary microcephaly|premature chromosome condensation with microcephaly and mental retardation|premature chromosome condensation with microcephaly and intellectual disability UMLS:C1855081|MESH:C565384|DOID:0070285|Orphanet:2512|OMIM:251200|Orphanet:52183 owl:Class HGNC:6954 biolink:NamedThing MCPH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020707 biolink:NamedThing central hearing loss Hearing loss resulting from disorders of the central nervous system auditory pathways. tmpaxzxjjyw_mondo_relaxed.owl central hearing loss NCIT:C34662 owl:Class MONDO:0012832 biolink:NamedThing inflammatory bowel disease 14 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRF5 gene. tmpaxzxjjyw_mondo_relaxed.owl IRF5 inflammatory bowel disease|inflammatory bowel disease 14|inflammatory bowel disease caused by mutation in IRF5|IBD14|inflammatory bowel disease type 14 OMIM:612245|UMLS:C2677100|DOID:0110895|MESH:C567383 owl:Class HGNC:6120 biolink:NamedThing IRF5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0002071 biolink:NamedThing increased affinity An affinity which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25481 biolink:NamedThing TRMU tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11036 biolink:NamedThing Venezuelan equine encephalitis virus tmpaxzxjjyw_mondo_relaxed.owl VEE|VEEV|Venezuelan equine encephalomyelitis virus|Venezuelan equine encephalitis VEE|Venezuelan equine encephalitis virus VEE GC_ID:1 ncbi_taxonomy owl:Class HGNC:950 biolink:NamedThing BAP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905208 biolink:NamedThing negative regulation of cardiocyte differentiation Any process that stops, prevents or reduces the frequency, rate or extent of cardiocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl inhibition of cardiac cell differentiation|negative regulation of cardiac cell differentiation|down-regulation of cardiocyte differentiation|down-regulation of cardiac cell differentiation|down regulation of cardiocyte differentiation|downregulation of heart cell differentiation|inhibition of heart cell differentiation|down regulation of cardiac cell differentiation|downregulation of cardiocyte differentiation|negative regulation of heart cell differentiation|down-regulation of heart cell differentiation|down regulation of heart cell differentiation|downregulation of cardiac cell differentiation|inhibition of cardiocyte differentiation owl:Class UBERON:0006822 biolink:NamedThing proximal epiphysis of ulna tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014486 biolink:NamedThing intellectual disability, autosomal dominant 30 Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal dominant type 30|MRD30|intellectual disability, autosomal dominant 30|autosomal dominant intellectual disability 30|autosomal dominant mental retardation 30|intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11|intellectual disability, autosomal dominant type 30|mental retardation, autosomal dominant 30|ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome|autosomal dominant non-syndromic intellectual disability 30 DOID:0070060|UMLS:C4015167|GARD:0013136|OMIM:616083 owl:Class MONDO:0008810 biolink:NamedThing familial apolipoprotein C-II deficiency tmpaxzxjjyw_mondo_relaxed.owl hyperlipoproteinemia, type IB|hyperlipoproteinemia, type 1B|apolipoprotein C-II deficiency|familial apolipoprotein C-II deficiency|C-II Anapolipoproteinemia|Apoc2 deficiency|familial apoC-II deficiency UMLS:C0268199|DOID:0111418|UMLS:C1720779|Orphanet:309020|ICD10:E78.3|OMIM:207750|SCTID:33513003 owl:Class UBERON:0006293 biolink:NamedThing spleen primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060774 biolink:NamedThing vaginal fibroepithelial polyp A superficial polypoid lesion that arises from the vagina. It is characterized by the presence of a fibroblastic stroma which is often myxoid, covered by squamous epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl vaginal fibroepithelial polyp|fibroepithelial polyp of the vagina|fibroepithelial polyp of vagina|vaginal fibroepithelial stromal polyp NCIT:C4948|UMLS:C0750071 owl:Class MONDO:0100270 biolink:NamedThing peroxisome biogenesis disorder due to PEX19 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX19 gene. tmpaxzxjjyw_mondo_relaxed.owl PEX19 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX19 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:9713 biolink:NamedThing PEX19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010852 biolink:NamedThing fibula pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011226 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 15 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant 15|autosomal dominant nonsyndromic deafness type 15|DFNA15|POU4F3 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in POU4F3|deafness, autosomal dominant type 15|autosomal dominant deafness 15|autosomal dominant nonsyndromic deafness 15 OMIM:602459|DOID:0110546|ICD10:H90.3|UMLS:C1865366|MESH:C566545 owl:Class HGNC:9220 biolink:NamedThing POU4F3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1940 biolink:NamedThing CHM tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007104 biolink:NamedThing amyotrophic lateral sclerosis-parkinsonism-dementia complex tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis-Parkinsonism/dementia Complex type 1|Lytico-Bodig disease|Lytigo-Bodig disease|ALS-pDC|amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome|amyotrophic lateral sclerosis-Parkinsonism/dementia Complex of Guam|Parkinsonism-dementia-ALS complex|amyotrophic lateral sclerosis-PARKINSONISM/dementia complex 1|amyotrophic lateral sclerosis, Parkinsonism/dementia complex of Guam|Guam disease|PDALS OMIM:105500|Orphanet:90020|ICD10:G12.2|GARD:0009239 owl:Class PATO:0001562 biolink:NamedThing decreased mass A mass which is lower than normal or average. tmpaxzxjjyw_mondo_relaxed.owl small mass|low mass owl:Class GO:0043368 biolink:NamedThing positive T cell selection The process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death. tmpaxzxjjyw_mondo_relaxed.owl positive T lymphocyte selection|positive T-lymphocyte selection|positive T-cell selection owl:Class CL:2000062 biolink:NamedThing placental villus capillary endothelial cell Any capillary endothelial cell that is part of a placenta. tmpaxzxjjyw_mondo_relaxed.owl http://www.ncbi.nlm.nih.gov/books/NBK53245/ TermGenie 2014-10-07T17:55:56Z cell owl:Class UBERON:0012504 biolink:NamedThing adventitia of esophagus tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:91493 biolink:NamedThing Exserohilum tmpaxzxjjyw_mondo_relaxed.owl Setosphaeria GC_ID:1 NCBITaxon:39952 ncbi_taxonomy owl:Class MONDO:0000962 biolink:NamedThing spindle cell lipoma A benign circumscribed tumor composed of spindled cells, adipocytes, and collagen bundles. There is no evidence of nuclear hyperchromasia or mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl spindle cell lipoma|spindle cell lipoma (morphologic abnormality) DOID:10184|UMLS:C0334474|SCTID:404058008|ICDO:8857/0|NCIT:C4254 owl:Class UBERON:0010388 biolink:NamedThing proximal segment of rib tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013691 biolink:NamedThing Feingold syndrome type 2 Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures. tmpaxzxjjyw_mondo_relaxed.owl microcephaly-digital anomalies-normal intelligence syndrome type 2|Feingold syndrome 2|brachydactyly with short stature and microcephaly|FGLDS2|Feingold syndrome type 2|FS2|brachydactyly-short stature-microcephaly syndrome|microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2|Brunner-Winter syndrome type 2|MMT type 2 OMIM:614326|Orphanet:391646|UMLS:C3280489|ICD10:Q87.8|Orphanet:1305 owl:Class HGNC:23564 biolink:NamedThing MIR17HG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007615 biolink:NamedThing laurin-Sandrow syndrome Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. tmpaxzxjjyw_mondo_relaxed.owl laurin-Sandrow syndrome|LSS|Sandrow syndrome|fibula ulna duplication tibia radius absence|mirror hands and feets-nasal defects syndrome|laurin-Sandrow syndrome, segmental|mirror-Image polydactyly|tetramelic mirror-Image polydactyly|laurin Sandrow syndrome|fibula and ulna, Duplication of, with absence of tibia and radius|mirror hands and feet with nasal defects DOID:0111350|GARD:0000155|Orphanet:2378|SCTID:715440003|MESH:C535689|OMIM:135750|ICD10:Q87.2 https://rarediseases.info.nih.gov/diseases/155/laurin-sandrow-syndrome owl:Class GO:0003029 biolink:NamedThing detection of hypoxic conditions in blood by carotid body chemoreceptor signaling The process in which information about a lack of oxygen are received and are converted to a molecular signal by chemoreceptors in the carotid bodies. tmpaxzxjjyw_mondo_relaxed.owl detection of hypoxic conditions in blood by carotid body chemoreceptor signalling owl:Class GO:0003027 biolink:NamedThing regulation of systemic arterial blood pressure by carotid body chemoreceptor signaling The process that modulates blood pressure by the action of chemoreceptors found in the carotid bodies and their resultant modulation of the vasomotor center. Chemoreceptors respond to oxygen, carbon dioxide and hydrogen ions. tmpaxzxjjyw_mondo_relaxed.owl vagal reflex|carotid body chemoreceptor response to lowering of systemic arterial blood pressure|regulation of systemic arterial blood pressure by carotid body chemoreceptor signalling|carotid body chemoreceptor regulation of systemic arterial blood pressure owl:Class GO:0006720 biolink:NamedThing isoprenoid metabolic process The chemical reactions and pathways involving isoprenoid compounds, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues. tmpaxzxjjyw_mondo_relaxed.owl polyisoprenoid metabolism|isoprenoid metabolism|polyisoprenoid metabolic process|polyterpene metabolism|polyterpene metabolic process owl:Class GO:0004602 biolink:NamedThing glutathione peroxidase activity Catalysis of the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O. tmpaxzxjjyw_mondo_relaxed.owl glutathione:hydrogen-peroxide oxidoreductase activity|reduced glutathione peroxidase activity|selenium-glutathione peroxidase activity|GSH peroxidase activity|non-selenium glutathione peroxidase activity owl:Class HsapDv:0000121 biolink:NamedThing 27-year-old human stage Adult stage that refers to an adult who is over 27 and under 28. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014909 biolink:NamedThing primary ciliary dyskinesia 34 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAJB13 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in DNAJB13|primary ciliary dyskinesia type 34|DNAJB13 primary ciliary dyskinesia|ciliary dyskinesia, primary, 34|ciliary dyskinesia, primary, type 34|ciliary dyskinesia, primary, 34, without situs inversus|primary ciliary dyskinesia 34 without situs inversus|CILD34 UMLS:C4310722|OMIM:617091|DOID:0110610 owl:Class HGNC:30718 biolink:NamedThing DNAJB13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0007002 biolink:NamedThing precementoblast Skeletogenic cell that has the potential to develop into a cementoblast. tmpaxzxjjyw_mondo_relaxed.owl haendel 2012-06-15T04:37:13Z cell owl:Class UBERON:0015081 biolink:NamedThing proximal tarsal endochondral element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021524 biolink:NamedThing benign neoplasm of buccal mucosa A benign neoplasm that involves the buccal mucosa. tmpaxzxjjyw_mondo_relaxed.owl benign tumor of the buccal mucosa|buccal mucosa benign neoplasm|benign neoplasm of the buccal mucosa|benign buccal mucosa tumor|benign buccal mucosa neoplasm|benign tumor of buccal mucosa SCTID:92039003|NCIT:C4406|UMLS:C0345566|ICD9:210.4 owl:Class MONDO:0100061 biolink:NamedThing PRPS1 deficiency disorder A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss. tmpaxzxjjyw_mondo_relaxed.owl PRPS1 deficiency disorder|PRPS1-related CMTX5/Arts syndrome/XLNSHL 2018-10-10 21:18:33+00:00 Individuals, both male and female, have been reported with familial missense variants in the PRPS1 gene. These patients have been described in the literature as having a range of phenotypes characterized as Arts syndrome, Charcot Marie Tooth syndrome, and non-syndromic hearing loss segregating in an X-linked pattern. Severity and presence of phenotypes makes it difficult to separate the non-syndromic and syndromic forms of hearing loss disorders associated with this gene. owl:Class MONDO:0013179 biolink:NamedThing hereditary spastic paraplegia 44 A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. tmpaxzxjjyw_mondo_relaxed.owl SPG44|autosomal recessive complex spastic paraplegia caused by mutation in GJC2|autosomal recessive spastic paraplegia type 44|spastic paraplegia 44, autosomal recessive|hereditary spastic paraplegia type 44|GJC2 autosomal recessive complex spastic paraplegia|autosomal recessive spastic paraplegia 44 ICD10:G11.4|UMLS:C2750784|DOID:0110796|Orphanet:320401|MESH:C567707|SCTID:723821002|OMIM:613206 owl:Class MONDO:0008173 biolink:NamedThing pachyonychia congenita 1 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene. tmpaxzxjjyw_mondo_relaxed.owl pachyonychia congenita 1|PC1|pachyonychia congenita caused by mutation in KRT16|Jadassohn-Lewandowsky syndrome|Jadassohn-Lewandowsky syndrome, formerly|KRT16 pachyonychia congenita|pachyonychia congenita, Jadassohn-Lewandowsky type|pachyonychia congenita type 1|pachyonychia congenita, Jadassohn-Lewandowsky type, formerly OMIM:167200|Orphanet:2309|SCTID:39427000 owl:Class HGNC:6423 biolink:NamedThing KRT16 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009115 biolink:NamedThing thoracic thymus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010895 biolink:NamedThing ABCD syndrome An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has material basis in a mutation in the endothelin B receptor gene (EDNRB). tmpaxzxjjyw_mondo_relaxed.owl ABCDS|ABCD syndrome|albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness|albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness Orphanet:918|MESH:C535334|OMIM:600501|UMLS:C1838099|UMLS:CN206498|DOID:0050600 owl:Class HGNC:3584 biolink:NamedThing FANCC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003019 biolink:NamedThing potassium deficiency disease Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia. tmpaxzxjjyw_mondo_relaxed.owl hypokalemia|hypopotassemia|potassium deficiency disorder SCTID:43339004|ICD10:E87.6|ICD9:276.8|DOID:4500|MESH:D007008|NCIT:C34939|HP:0002900|NCIT:C37974|UMLS:C1514284 Editor note: NCIT hypokalemia is a finding. We use potassium deficiency disorder for equivalence but this is listed as nutritional in NCIT owl:Class MONDO:0018642 biolink:NamedThing NIK deficiency A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14). tmpaxzxjjyw_mondo_relaxed.owl non-severe combined immunodeficiency caused by mutation in MAP3K14|MAP3K14 non-severe combined immunodeficiency|primary immunodeficiency with multifaceted aberrant lymphoid immunity ICD10:D81.8|Orphanet:447731 owl:Class HP:0010976 biolink:NamedThing B lymphocytopenia An abnormal decrease from the normal count of B cells. tmpaxzxjjyw_mondo_relaxed.owl Decreased B cell count|Low B cell count|B cell lymphopenia|B cell deficiency|Reduction in B cell number UMLS:C1855067 Plasma B cells differentiate from B cells and secrete large amounts of antibodies. peter 2011-02-06T09:44:11Z HP:0002956 human_phenotype owl:Class MONDO:0014350 biolink:NamedThing Seckel syndrome 8 Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene. tmpaxzxjjyw_mondo_relaxed.owl DNA2 Seckel syndrome|Seckel syndrome type 8|Seckel syndrome 8|SCKL8|Seckel syndrome caused by mutation in DNA2 OMIM:615807|DOID:0070009|UMLS:C3891452|Orphanet:808 owl:Class MONDO:0013988 biolink:NamedThing congenital heart defects, multiple types, 3 tmpaxzxjjyw_mondo_relaxed.owl congenital heart defects, multiple types, 3|congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances|CHTD3 OMIM:614954|UMLS:C3554194 owl:Class MONDO:0100070 biolink:NamedThing neuroendocrine disorder A disease or disorder that affects the neuroendocrine gland, any of the organized aggregations of cells that function as secretory or excretory organs and that release hormones in response to neural stimuli. tmpaxzxjjyw_mondo_relaxed.owl neuroendocrine system disease 2018-12-17 22:24:52+00:00 owl:Class NCBITaxon:88456 biolink:NamedThing Cyclospora cayetanensis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0000107 biolink:NamedThing cleavage stage The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005103 biolink:NamedThing mesonephric epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005899 biolink:NamedThing pes bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020226 biolink:NamedThing chromosomal anomaly with cataract tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98642 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: chromosomal disorder' MONDO_0019040 owl:Class HGNC:2077 biolink:NamedThing CLN6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5228 biolink:NamedThing DNAJB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:30839 biolink:NamedThing KRT25 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009704 biolink:NamedThing carnitine palmitoyl transferase II deficiency, myopathic form The myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited metabolic disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the most common and the least severe form of CPT II deficiency. tmpaxzxjjyw_mondo_relaxed.owl CPT2, myopathic form|CPT 2 deficiency, myopathic|Carnitine palmitoyl transferase II deficiency, adult-onset form|Carnitine Palmitoyltransferase 2 deficiency, adult-onset|CPTII, adult-onset form|Carnitine Palmitoyltransferase 2 deficiency, myopathic|Carnitine Palmitoyltransferase 2 deficiency, myopathic, stress-induced|Carnitine palmitoyl transferase deficiency type 2, adult-onset form|CPTII, myopathic form|CPT2, adult-onset form|CARNITINE PALMITOYLTRANSFERASE II deficiency, late-onset|Cpt2 deficiency, late-onset|Carnitine palmitoyl transferase deficiency type 2, myopathic form|carnitine palmitoyl transferase II deficiency, myopathic form|CARNITINE PALMITOYLTRANSFERASE II deficiency, myopathic, stress-induced MESH:C563461|Orphanet:157|UMLS:C1833508|Orphanet:228302|ICD10:E71.3|OMIM:255110 owl:Class MONDO:0007397 biolink:NamedThing craniometaphyseal dysplasia, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl CMD|CMDD|craniometaphyseal dysplasia Jackson type|craniometaphyseal dysplasia, Jackson type|craniometaphyseal dysplasia, autosomal dominant|CMDJ UMLS:C1852502|OMIM:123000|Orphanet:1522|GARD:0001581|MESH:C565145 owl:Class HGNC:15492 biolink:NamedThing ANKH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022991 biolink:NamedThing diploid-triploid mosaicism Diploid-triploid mosaicism is a chromosome disorder. Individuals with diploid-triploid syndrome have some cells with three copies of each chromosome for a total of 69 chromosomes (called triploid cells) and some cells with the usual 2 copies of each chromosome for a total of 46 chromosomes (called diploid cells). Having two or more different cell types is called mosaicism. Diploid-triploid mosaicism can be associated withtruncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth,mild differences infacial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation. Intellectual disabilities may be present but are highly variable from person to person ranging from mild to more severe. The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells. tmpaxzxjjyw_mondo_relaxed.owl Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia|Mosaic triploidy|diploid/triploid mixoploidy|diploid/triploid mosaicism MESH:C548012|ICD9:758.89|GARD:0010715|UMLS:C0265505|SCTID:10177005 https://rarediseases.info.nih.gov/diseases/10715/diploid-triploid-mosaicism owl:Class MONDO:0015019 biolink:NamedThing susceptibility to Yao syndrome tmpaxzxjjyw_mondo_relaxed.owl Yao syndrome|YAOS UMLS:C4310620|OMIM:617321|SCTID:768667002 owl:Class UBERON:0015080 biolink:NamedThing proximal carpal bone pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00005750 biolink:NamedThing grassland soil A portion of soil which is found in a grassland. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00000106 biolink:NamedThing grassland area An area in which grasses (Graminae) are a significant component of the vegetation. tmpaxzxjjyw_mondo_relaxed.owl herbaceous area|grazing area owl:Class HGNC:2933 biolink:NamedThing DMPK tmpaxzxjjyw_mondo_relaxed.owl owl:Class N6008ced1d4044f19bd00d47f51e9115f biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0003070 biolink:NamedThing trigeminal placode complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001581 biolink:NamedThing decreased contractility A contractility which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl low contractility owl:Class HGNC:2019 biolink:NamedThing CLCN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004339 biolink:NamedThing tuberculum sellae meningioma A meningioma that affects the tuberculum sellae. tmpaxzxjjyw_mondo_relaxed.owl sella turcica neoplasm of tuberculum sellae|meningioma of the tuberculum sellae|tuberculum sellae sella turcica neoplasm|meningioma of tuberculum sellae UMLS:C1336829|NCIT:C5284|DOID:7713 owl:Class PATO:0001576 biolink:NamedThing increased pressure A pressure which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl high pressure owl:Class HGNC:9155 biolink:NamedThing PNLIP tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:13719 biolink:NamedThing acetylsalicylate A benzoate that is the conjugate base of acetylsalicylic acid, arising from deprotonation of the carboxy group. tmpaxzxjjyw_mondo_relaxed.owl acetylsalicylate|2-(acetyloxy)benzoate owl:Class MONDO:0000680 biolink:NamedThing astereognosia An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. tmpaxzxjjyw_mondo_relaxed.owl somatosensory agnosia|astereognosia|astereognosia (disease) astereognosia (disease) DOID:0060150|HP:0010527 owl:Class UBERON:0011628 biolink:NamedThing early premaxilla tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:186538 biolink:NamedThing Zaire ebolavirus tmpaxzxjjyw_mondo_relaxed.owl ZEBOV|Zaire Ebola virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017898 biolink:NamedThing autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal recessive form of mendelian susceptibility to mycobacterial diseases due to a partial deficiency. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive MSMD due to a partial deficiency|mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal recessive 2022-03-01 Orphanet:319539|ICD10:D84.8|UMLS:CN203954 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited disease susceptibility' MONDO_0020573 owl:Class HsapDv:0000081 biolink:NamedThing child stage Immature stage that refers to child who is over 2 and under 13 years old. tmpaxzxjjyw_mondo_relaxed.owl 2-12 years owl:Class MONDO:0005542 biolink:NamedThing acute coronary syndrome Signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction. tmpaxzxjjyw_mondo_relaxed.owl syndromes, acute coronary|coronary syndromes, acute|acute coronary syndromes|coronary syndrome, acute|syndrome, acute coronary|acute coronary syndrome EFO:0005672|NCIT:C53652|UMLS:C0948089|MESH:D054058|SCTID:394659003 owl:Class NCBITaxon:1314 biolink:NamedThing Streptococcus pyogenes tmpaxzxjjyw_mondo_relaxed.owl Streptococcus scarlatinae|Streptococcus erysipelatos|Micrococcus scarlatinae|Streptococcus hemolyticus GC_ID:11 ncbi_taxonomy owl:Class UBERON:0010528 biolink:NamedThing pneumatic cavity of bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012193 biolink:NamedThing phrenic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015176 biolink:NamedThing undetermined colitis Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis but that cannot be diagnosed as one of them after examination of an intestinal resection specimen. tmpaxzxjjyw_mondo_relaxed.owl ICD10:K52.3|Orphanet:103920 owl:Class MONDO:0013146 biolink:NamedThing Brugada syndrome 7 Any Brugada syndrome in which the cause of the disease is a mutation in the SCN3B gene. tmpaxzxjjyw_mondo_relaxed.owl SCN3B Brugada syndrome|BRGDA7|atrial fibrillation, familial, 16|Brugada syndrome caused by mutation in SCN3B|Brugada syndrome 7|Brugada syndrome type 7 Orphanet:130|UMLS:C2751088|Orphanet:334|DOID:0110224|OMIM:613120|ICD10:I49.8|MESH:C567734 owl:Class HGNC:20665 biolink:NamedThing SCN3B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005282 biolink:NamedThing ventricular system of brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003368 biolink:NamedThing prostate leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the prostate. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of prostate gland|leiomyosarcoma of prostate|leiomyosarcoma of the prostate|prostate gland leiomyosarcoma|prostate leiomyosarcoma NCIT:C5526|DOID:5282|UMLS:C1335511 owl:Class MONDO:0006278 biolink:NamedThing lung papilloma A benign papillary neoplasm that arises endobronchially. It is classified as squamous cell, glandular, or mixed squamous cell and glandular papilloma. Patients usually present with signs and symptoms of bronchial obstruction. tmpaxzxjjyw_mondo_relaxed.owl lung papilloma|papilloma of the respiratory tract|papilloma of respiratory tract|respiratory tract papilloma NCIT:C8295|UMLS:C0281373|EFO:1000335 owl:Class MONDO:0015274 biolink:NamedThing chronic beryllium disease Chronic beryllium disease (CBD) is a granulomatous, interstitial lung disease that occurs in individuals who develop beryllium sensitization (BeS), a cell-mediated immune response to environmental and occupational beryllium exposure. BeS precedes the lung disease that may present with chronic dry cough, fatigue, weight loss, chest pain, and increasing dyspnea. tmpaxzxjjyw_mondo_relaxed.owl Beryllliosis|chronic berylliosis|Subacute berylliosis|acute berylliosis|reversible berylliosis|beryllium disease|chronic beryllium lung disease|chronic pulmonary berylliosis|berylliosis|beryllium poisoning GARD:0000867|DOID:10322|ICD9:503|MESH:D001607|MedDRA:10004485|SCTID:18121009|ICD10:J63.2|Orphanet:133|EFO:0007168 owl:Class CHEBI:60809 biolink:NamedThing adjuvant Any pharmacological or immunological agent that modifies the effect of other agents such as drugs or vaccines while having few if any direct effects when given by itself. tmpaxzxjjyw_mondo_relaxed.owl adjuvants owl:Class HGNC:10936 biolink:NamedThing SLC18A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054560 biolink:NamedThing anauxetic dysplasia 1 tmpaxzxjjyw_mondo_relaxed.owl spondylometaepiphyseal dysplasia, Menger type|spondylometaepiphyseal dysplasia, anauxetic type|anauxetic dysplasia 1|spondyloepimetaphyseal dysplasia, anauxetic type|anauxetic dysplasia|ANXD1 OMIM:607095 owl:Class HGNC:3976 biolink:NamedThing FTH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008515 biolink:NamedThing syndactyly type 4 Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5). tmpaxzxjjyw_mondo_relaxed.owl non-syndromic syndactyly caused by mutation in LMBR1|Haas type syndactyly|Sd4|SDTY4|LMBR1 non-syndromic syndactyly|syndactyly, type IV|polysyndactyly, Haas type|syndactyly, type 4|polysyndactyly type Haas OMIM:186200|Orphanet:93405|SCTID:719158007|UMLS:C1861355|MESH:C566092|GARD:0004434|ICD10:Q70.4 https://rarediseases.info.nih.gov/diseases/4434/syndactyly-type-4 owl:Class GO:1905553 biolink:NamedThing regulation of blood vessel branching Any process that modulates the frequency, rate or extent of blood vessel branching. tmpaxzxjjyw_mondo_relaxed.owl regulation of branching involved in blood vessel morphogenesis owl:Class HGNC:7105 biolink:NamedThing MITF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016733 biolink:NamedThing ganglioglioma A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl adult ganglioglioma|ganglioglioma|CNS ganglioglioma|mixed cell tumors containing both neural ganglionic cells and neural glial cell components|childhood ganglioglioma UMLS:C0206716|DOID:5078|Orphanet:251949|SCTID:87191000119100|GARD:0002430|NCIT:C3788|ONCOTREE:GNG|MESH:D018303|EFO:0003094|ICDO:9505/1|MedDRA:10017701 https://rarediseases.info.nih.gov/diseases/2430/ganglioglioma owl:Class MONDO:0100266 biolink:NamedThing peroxisome biogenesis disorder due to PEX12 defect Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene. tmpaxzxjjyw_mondo_relaxed.owl PEX12 related Zellweger spectrum disorder|peroxisome biogenesis disorder due to PEX12 defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:8854 biolink:NamedThing PEX12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013436 biolink:NamedThing retinitis pigmentosa 39 Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 39|retinitis pigmentosa 39|USH2A retinitis pigmentosa|retinitis pigmentosa caused by mutation in USH2A|RP39 ICD10:H35.5|Orphanet:791|UMLS:C3151138|DOID:0110360|OMIM:613809 owl:Class MONDO:0017256 biolink:NamedThing idiopathic anterior uveitis tmpaxzxjjyw_mondo_relaxed.owl ICD10:H20.8|UMLS:C0339315|ICD10:H20.9|Orphanet:280914|ICD10:H20.2|ICD10:H20.0|SCTID:231947004|ICD10:H20.1 owl:Class MONDO:0012667 biolink:NamedThing dilated cardiomyopathy 1W Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, 1W|cardiomyopathy, dilated, type 1W|CMD1W|VCL familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1W|familial isolated dilated cardiomyopathy caused by mutation in VCL UMLS:C1969639|ICD10:I42.0|OMIM:611407|MESH:C566954|DOID:0110446 owl:Class MONDO:0007699 biolink:NamedThing Hashimoto thyroiditis An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. tmpaxzxjjyw_mondo_relaxed.owl lymphocytic thyroiditis, chronic|Hashimoto thyroiditides|Hashimoto disease|Hashimoto hypothyroidism|Hashimoto's syndrome|HT|thyroiditis, chronic lymphocytic|thyroiditides, chronic lymphocytic|Hashimoto's thyroiditis|chronic lymphocytic thyroiditides|Hashimoto syndrome|lymphocytic thyroiditis|hypothyroidism, autoimmune|thyroid autoantibodies|thyroiditis, Hashimoto|syndrome, Hashimoto's|autoimmune thyroiditis|Hashimoto's syndromes|Hashimoto thyroiditis|Hashimotos disease|syndromes, Hashimoto's|hypothyroidism, autoimmune thyroid autoantibodies, included|Hashimotos syndrome|lymphocytic thyroiditides, chronic|disease, Hashimoto|Hashimoto struma|Hashimoto's struma|disease, Hashimoto's|Ht|chronic lymphocytic thyroiditis|Hashimoto's disease|thyroiditides, Hashimoto OMIM:608175|DOID:7188|MESH:D013967|Wikipedia:Hashimoto's_thyroiditis|UMLS:C0677607|NCIT:C27191|ICD9:245.2|Orphanet:855|OMIM:140300|MESH:D050031|ICD10:E06.3|EFO:0003779 owl:Class HGNC:2505 biolink:NamedThing CTLA4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003091 biolink:NamedThing cutaneous mucoepidermoid carcinoma A mucoepidermoid carcinoma that involves the zone of skin. tmpaxzxjjyw_mondo_relaxed.owl zone of skin mucoepidermoid carcinoma|mucoepidermoid skin carcinoma DOID:4683|NCIT:C4472|SCTID:254713002|UMLS:C0346019 owl:Class IAO:0000104 biolink:NamedThing plan specification A directive information entity with action specifications and objective specifications as parts that, when concretized, is realized in a process in which the bearer tries to achieve the objectives by taking the actions specified. tmpaxzxjjyw_mondo_relaxed.owl owl:Class IAO:0000007 biolink:NamedThing action specification A directive information entity that describes an action the bearer will take.|a directive information entity that describes an action the bearer will take tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013103 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 10 An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene. tmpaxzxjjyw_mondo_relaxed.owl susceptibility to idiopathic generalized epilepsy 10|generalized epilepsy with febrile seizures plus, type 5, susceptibility to|epilepsy, juvenile myoclonic, susceptibility to, 7|EIG10|GEFSP5, susceptibility to|GEFS+, type 5, susceptibility to|epilepsy, idiopathic generalized, susceptibility to, type 10|epilepsy, idiopathic generalized, susceptibility to, 10|GEFS+5, susceptibility to Orphanet:36387|OMIM:613060|Orphanet:307|DOID:0111292 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class UBERON:0005667 biolink:NamedThing connecting stalk mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1001111 biolink:NamedThing kidney loop of Henle thin descending limb epithelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001054 cell owl:Class MONDO:0700063 biolink:NamedThing complete A disease characteristic in which the cause of the disease is present in all the cells of the organism. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0006553 biolink:NamedThing renal duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022831 biolink:NamedThing congenital heart disease ptosis hypodontia craniostosis tmpaxzxjjyw_mondo_relaxed.owl GARD:0001483 https://rarediseases.info.nih.gov/diseases/1483/congenital-heart-disease-ptosis-hypodontia-craniostosis owl:Class ENVO:2000045 biolink:NamedThing hydrocarbon-based environmental material tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009285 biolink:NamedThing gamma-glutamyl transpeptidase deficiency Gamma-glutamyl transpeptidase deficiency is characterized by increased glutathione concentration in the plasma and urine. tmpaxzxjjyw_mondo_relaxed.owl GGT deficiency|inborn error of glutathione hydrolase activity|GTG deficiency|glutathionuria|gamma-glutamyltranspeptidase deficiency|inborn glutathione hydrolase activity disorder|rare inborn error of glutathione hydrolase activity|GGT1 deficiency|gamma-glutamyltransferase deficiency Orphanet:33573|UMLS:C0268524|ICD10:E72.8|MESH:C536836|GARD:0010099|OMIM:231950|DOID:0111257|ICD9:270.8|SCTID:78586005 owl:Class HGNC:4250 biolink:NamedThing GGT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005246 biolink:NamedThing calcium channel regulator activity Modulates the activity of a calcium channel. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012252 biolink:NamedThing rhabdoid tumor predisposition syndrome 1 Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene. tmpaxzxjjyw_mondo_relaxed.owl teratoid tumor, atypical|SMARCB1 familial rhabdoid tumor|malignant rhabdoid tumor, somatic|rhabdoid tumor predisposition syndrome 1|At/RT|familial rhabdoid tumor caused by mutation in SMARCB1|RTPS1|brain tumor, posterior fossa, of infancy, familial|rhabdoid tumor predisposition syndrome type 1 OMIM:609322|Orphanet:99966|Orphanet:69077|UMLS:C0206743|Orphanet:231108 owl:Class CHEBI:37397 biolink:NamedThing chondroitin sulfate Any of a class of 10--60 kDa glycosaminoglycan sulfates, widely distributed in cartilage and other mammalian connective tissues. tmpaxzxjjyw_mondo_relaxed.owl chondroitin sulphate|chondroitin sulfuric acid|chondroitin sulfates|Chondroitin sulfate|Chondroitinsulfat|chondroitin polysulfate owl:Class OBO:CHR_9606-chrXq28 biolink:NamedThing Xq28 (Human) tmpaxzxjjyw_mondo_relaxed.owl 156040895 148000000 hg38 owl:Class HP:0002164 biolink:NamedThing Nail dysplasia The presence of developmental dysplasia of the nail. tmpaxzxjjyw_mondo_relaxed.owl Onychodysplasia|Dysplastic nails|Atypical nail growth UMLS:C1834405 HP:0008403|HP:0001793|HP:0001794|HP:0001797|HP:0008387|HP:0008412|HP:0008409 human_phenotype owl:Class MONDO:0013273 biolink:NamedThing chromosome 16p13.3 duplication syndrome 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems. tmpaxzxjjyw_mondo_relaxed.owl chromosome 16p13.3 duplication syndrome|distal trisomy 16p|chromosome 16p13.3 duplication|dup(16)(p13.3)|distal duplication 16p|trisomy 16pter|telomeric duplication 16p|16p13.3 duplication|16p13.3 microduplication syndrome|interstitial 16p13.3 duplication OMIM:613458|UMLS:C4518796|SCTID:733473000|DOID:0060431|UMLS:C3150708|Orphanet:96078|ICD10:Q92.3|GARD:0010755 https://rarediseases.info.nih.gov/diseases/10755/chromosome-16p133-duplication owl:Class HGNC:15710 biolink:NamedThing LDB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030004 biolink:NamedThing autism, susceptibility to, 20 tmpaxzxjjyw_mondo_relaxed.owl AUTISM, SUSCEPTIBILITY TO, 20|autism, susceptibility to, 20|AUTS20 OMIM:618830 owl:Class HGNC:14291 biolink:NamedThing NLGN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011025 biolink:NamedThing Cayman type cerebellar ataxia Cerebellar ataxia, Cayman type is characterised by psychomotor retardation, hypotonia and cerebellar dysfunction (nystagmus, ataxic gait, truncal ataxia, dysarthric speech and intention tremor), associated with cerebellar hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl ATCAY|cerebellar ataxia, CAYMAN type|Cayman cerebellar ataxia|cerebellar ataxia, Cayman type|Cayman ataxia|Cayman type cerebellar ataxia UMLS:C1832585|ICD10:G11.0|Orphanet:94122|DOID:0060694|OMIM:601238|SCTID:717332007|MESH:C563363 owl:Class UBERON:0004549 biolink:NamedThing right eye tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032626 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 22 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22|MC1DN22 OMIM:618243 owl:Class MONDO:0014008 biolink:NamedThing phosphohydroxylysinuria tmpaxzxjjyw_mondo_relaxed.owl phosphohydroxylysinuria|PHOSPHOHYDROXYLYSINURIA|Phosphohydroxylysinuria|PHLU OMIM:615011|UMLS:C3554344 owl:Class UBERON:0006909 biolink:NamedThing lumen of digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014085 biolink:NamedThing hydrocephalus, nonsyndromic, autosomal recessive 2 Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene. tmpaxzxjjyw_mondo_relaxed.owl HYC2|hydrocephalus, nonsyndromic, autosomal recessive 2|MPDZ congenital hydrocephalus|hydrocephalus, nonsyndromic, autosomal recessive type 2|congenital hydrocephalus caused by mutation in MPDZ UMLS:C3554691|Orphanet:2185|OMIM:615219 owl:Class HGNC:15984 biolink:NamedThing APTX tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100431 biolink:NamedThing migraine without aura A migraine disorder characterized by episodes that occur in the absence of preceding focal neurological symptoms. tmpaxzxjjyw_mondo_relaxed.owl common migraine NCIT:C117004|UMLS:C0338480|MESH:D020326|DOID:12783|EFO:0005296|SCTID:56097005 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3984 owl:Class MONDO:0017942 biolink:NamedThing Hendra virus infection Hendra virus infection is a rare viral infection disorder caused by the Hendra virus characterized by onset of flu-like symptoms (fever, myalgia, headaches, lethargy) approximately one week after having been in close contact with bodily fluids of infected horses. Neurological manifestations (e.g. vertigo, confusion, ataxia) and progressive respiratory failure, leading to death, have also been reported. tmpaxzxjjyw_mondo_relaxed.owl Hendra henipavirus infectious disease|Hendra henipavirus caused disease or disorder|Hendra henipavirus disease or disorder ICD10:B33.8|Orphanet:324632 owl:Class NCBITaxon:63330 biolink:NamedThing Hendra henipavirus tmpaxzxjjyw_mondo_relaxed.owl Hendra virus|Equine morbillivirus PMID:7701348|GC_ID:1 NCBITaxon:45337 ncbi_taxonomy owl:Class HGNC:4084 biolink:NamedThing GABRD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013211 biolink:NamedThing dilated cardiomyopathy 1FF A dilated cardiomyopathy that has material basis in mutation in the TNNI3 gene on chromosome 19q13.42. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, type 1Ff|CMD1FF|dilated cardiomyopathy type 1FF|cardiomyopathy, dilated, 1FF UMLS:C2750091|ICD10:I42.0|MESH:C567654|DOID:0110459|OMIM:613286|Orphanet:154 owl:Class MONDO:0009310 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene. tmpaxzxjjyw_mondo_relaxed.owl neutrophil cytosol Factor 2, deficiency of|granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2|Ncf2, deficiency of|granulomatous disease, chronic, due to Ncf2 deficiency|chronic granulomatous disease caused by mutation in NCF2|CGD, autosomal recessive cytochrome B-positive, type 2|NCF2 chronic granulomatous disease|P67-PHOX, deficiency of|CDG2|granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II DOID:0070191|OMIM:233710|MESH:C565531|Orphanet:379|UMLS:C1856245 owl:Class HGNC:7661 biolink:NamedThing NCF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012613 biolink:NamedThing intellectual disability, autosomal recessive 5 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive type 5|autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2|intellectual disability, autosomal recessive type 5|MRT5|mental retardation, autosomal recessive 5|NSUN2 autosomal recessive non-syndromic intellectual disability|intellectual disability, autosomal recessive 5 MESH:C567018|UMLS:C1970199|OMIM:611091 owl:Class HGNC:25994 biolink:NamedThing NSUN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006617 biolink:NamedThing left external ear tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012426 biolink:NamedThing immunodeficiency 25 Any severe combined immunodeficiency in which the cause of the disease is a mutation in the CD247 gene. tmpaxzxjjyw_mondo_relaxed.owl severe combined immunodeficiency (disease) caused by mutation in CD247|immunodeficiency type 25|immunodeficiency due to defect in CD3-zeta|CD247 severe combined immunodeficiency (disease)|IMD25|CD3zeta deficiency|immunodeficiency 25 DOID:0060007|UMLS:C1857798|MESH:C565712|OMIM:610163|Orphanet:169160 owl:Class MONDO:0009039 biolink:NamedThing Baller-Gerold syndrome Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius). tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis-radial aplasia syndrome|Baller-Gerold syndrome|BALLER-Gerold syndrome|BGS|craniosynostosis with radial defects OMIM:218600|ICD10:Q75.0|UMLS:C0265308|SCTID:77608001|MESH:C536788|GARD:0001602|DOID:0050654|Orphanet:1225 https://rarediseases.info.nih.gov/diseases/1602/baller-gerold-syndrome owl:Class HGNC:5351 biolink:NamedThing ICOS tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008429 biolink:NamedThing cervical vertebral foramen tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03000001 biolink:NamedThing food peeling process peeling" is the process of removing the outer covering, layer or skin from a fruit, vegetable, or plant or animal (such as a shrimp). tmpaxzxjjyw_mondo_relaxed.owl Damion Dooley owl:Class FOODON:00002655 biolink:NamedThing food (peeled) tmpaxzxjjyw_mondo_relaxed.owl peeled 2019-05-25 06:43:20+00:00 Damion Dooley owl:Class MONDO:0014116 biolink:NamedThing complex cortical dysplasia with other brain malformations 2 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene. tmpaxzxjjyw_mondo_relaxed.owl complex cortical dysplasia with other brain malformations caused by mutation in KIF5C|complex cortical dysplasia with other brain malformations type 2|cortical dysplasia, Complex, with Other brain malformations type 2|KIF5C complex cortical dysplasia with other brain malformations|cortical dysplasia, complex, with other brain malformations 2|CDCBM2 DOID:0090133|UMLS:C3809013|OMIM:615282 owl:Class HGNC:6325 biolink:NamedThing KIF5C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002842 biolink:NamedThing bacterial gastritis Gastritis resulting from bacteria. tmpaxzxjjyw_mondo_relaxed.owl bacterial gastritis|Bacteria gastritis (disease)|Bacteria caused gastritis (disease) DOID:4033|NCIT:C27340|UMLS:C0948039|SCTID:723096000 owl:Class UBERON:0010152 biolink:NamedThing skin mucus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5440 biolink:NamedThing IFNGR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000946 biolink:NamedThing antibody secreting cell A lymphocyte of B lineage that is devoted to secreting large amounts of immunoglobulin. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class GO:0042571 biolink:NamedThing immunoglobulin complex, circulating An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. tmpaxzxjjyw_mondo_relaxed.owl antibody owl:Class MONDO:0013714 biolink:NamedThing mannose-binding lectin deficiency tmpaxzxjjyw_mondo_relaxed.owl MBL2 deficiency|MBLD|lectin complement activation pathway, defect in, 1|mannose-binding protein deficiency|mannose-binding lectin deficiency|MBL deficiency|MBP deficiency OMIM:614372|ICD9:279.19|UMLS:C3280586|MESH:C563602|SCTID:703538003 owl:Class HP:0003249 biolink:NamedThing Genital ulcers tmpaxzxjjyw_mondo_relaxed.owl Genital ulcers UMLS:C0151281 human_phenotype owl:Class NCBITaxon:523089 biolink:NamedThing Haemaphysalis concinna tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:14282 biolink:NamedThing IRF2BPL tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7106 biolink:NamedThing ATXN3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020203 biolink:NamedThing pigmented conjunctival lesion tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98615 owl:Class GO:1900122 biolink:NamedThing positive regulation of receptor binding Any process that activates or increases the frequency, rate or extent of a protein or other molecule binding to a receptor. tmpaxzxjjyw_mondo_relaxed.owl activation of receptor binding|up regulation of receptor binding|upregulation of receptor binding owl:Class MONDO:0010370 biolink:NamedThing Cornelia de Lange syndrome 2 An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation. tmpaxzxjjyw_mondo_relaxed.owl CDLS2|SMC1A Cornelia de Lange syndrome|Cornelia DE Lange syndrome 2|Cornelia de Lange syndrome 2|X-linked Cornelia De Lange syndrome|Cornelia De Lange syndrome, X-linked|Cornelia De Lange syndrome type 2|Cdls, X-linked|Cornelia de Lange syndrome caused by mutation in SMC1A UMLS:C1802395|OMIM:300590|Orphanet:199|DOID:0080506|NCIT:C75485 owl:Class GO:0031424 biolink:NamedThing keratinization The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006208 biolink:NamedThing fallopian tube serous adenocarcinoma A serous adenocarcinoma that arises from the fallopian tube. It is usually a high grade invasive adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube serous adenocarcinoma DOID:5598|UMLS:C1517124|EFO:1000253|NCIT:C40099 owl:Class MONDO:0009977 biolink:NamedThing Knobloch syndrome Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele. tmpaxzxjjyw_mondo_relaxed.owl KNOBLOCH syndrome 1|KNO1|Knobloch syndrome type 1|myopia retinal detachment encephalocele|Kno|Knobloch-Layer syndrome|retinal detachment-occipital encephalocele syndrome|retinal detachment and occipital encephalocele UMLS:C1849409|ICD10:Q15.8|OMIM:267750|SCTID:703542000|Orphanet:1571|MESH:C537209|GARD:0000380|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/380/knobloch-syndrome owl:Class UBERON:0015082 biolink:NamedThing proximal tarsal cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0061135 biolink:NamedThing endopeptidase regulator activity Binds to and modulates the activity of a peptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012568 biolink:NamedThing osteoarthritis susceptibility 4 tmpaxzxjjyw_mondo_relaxed.owl osteoarthritis susceptibility 4|osteoarthritis, generalized, without dysplasia|OS4 OMIM:610839|UMLS:C1835815 owl:Class FOODON:03400229 biolink:NamedThing beverage (us cfr) Alcoholic or nonalcoholic beverage; excludes milk and milk-based beverages, fruit juices and fruit juice drinks, and vegetable juices. [FDA CFSAN 1995] tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0229 http://langual.org owl:Class UBERON:0012375 biolink:NamedThing subserosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044913 biolink:NamedThing metastatic malignant neoplasm in the eye A malignant neoplasm that has spread to the eye from another anatomic site. tmpaxzxjjyw_mondo_relaxed.owl Metastatic tumor to the eye|Metastases to eye|metastasis to eye|Metastatic malignant neoplasm in the eye|eye metastasis|Metastatic neoplasm to the eye|Metastatic malignant neoplasm to the eye|Metastases to the eye|metastasis to the eye NCIT:C4586|SCTID:94292003|UMLS:C0347019 owl:Class FOODON:03400129 biolink:NamedThing refined or partially-refined food product (us cfr) Extract, concentrate or isolate derived from a food source through one or more refining steps (see *EXTRACT, CONCENTRATE OR ISOLATE OF PLANT OR ANIMAL*) and marketed as such. [FDA CFSAN 1995] tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0129 http://langual.org owl:Class MONDO:0003439 biolink:NamedThing urinary bladder villous adenoma An exophytic glandular neoplasm of the bladder, morphologically similar to its intestinal counterpart. It often coexists with in situ or infiltrating bladder adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl villous adenoma of urinary bladder|urinary bladder villous adenoma|bladder villous adenoma|villous adenoma of the urinary bladder UMLS:C1336893|NCIT:C7414|DOID:5427 owl:Class MONDO:0008293 biolink:NamedThing porokeratosis 3, disseminated superficial actinic type tmpaxzxjjyw_mondo_relaxed.owl porokeratosis 3, disseminated superficial actinic type|porokeratosis, disseminated superficial actinic 1|porokeratosis, disseminated superficial actinic, 1|DSAP1|POROK3|porokeratosis 3, multiple types|Dsap OMIM:175900|GARD:0009505|MESH:C536339|Orphanet:79152 owl:Class HGNC:236 biolink:NamedThing ADCY5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009246 biolink:NamedThing Friedreich ataxia and congenital glaucoma tmpaxzxjjyw_mondo_relaxed.owl Friedreich ataxia and congenital glaucoma MESH:C538061|UMLS:C1856688|OMIM:229310 owl:Class N851e1822d8764fe0805d91b44a221660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014926 biolink:NamedThing Bardet-Biedl syndrome 22 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene. tmpaxzxjjyw_mondo_relaxed.owl IFT74 Bardet-Biedl syndrome|Bardet-Biedl syndrome caused by mutation in IFT74|Bardet-Biedl syndrome type 20|Bardet-Biedl syndrome 20; BBS20|BBS20 UMLS:C4310707|OMIM:617119 owl:Class HGNC:21424 biolink:NamedThing IFT74 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003411 biolink:NamedThing breast hemangiopericytoma A hemangiopericytoma arising from the breast. tmpaxzxjjyw_mondo_relaxed.owl breast spindle cell tumor|breast hemangiopericytoma DOID:5370|NCIT:C40396|UMLS:C1511313 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class CHEBI:33284 biolink:NamedThing nutrient A nutrient is a food component that an organism uses to survive and grow. tmpaxzxjjyw_mondo_relaxed.owl nutrients owl:Class UBERON:0004258 biolink:NamedThing back blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10582 biolink:NamedThing SCN10A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003849 biolink:NamedThing mesencephalic neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:27030 biolink:NamedThing DNAJC21 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004260 biolink:NamedThing upper arm blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002618 biolink:NamedThing root of trochlear nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7602 biolink:NamedThing MYO5A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014086 biolink:NamedThing osteogenesis imperfecta type 15 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene. tmpaxzxjjyw_mondo_relaxed.owl osteogenesis imperfecta type XV|osteogenesis imperfecta caused by mutation in WNT1|osteogenesis imperfecta, type XV|OI, type 15|WNT1 osteogenesis imperfecta|osteogenesis imperfecta, type 15|OI15 Orphanet:666|Orphanet:216812|ICD10:Q78.0|Orphanet:216820|OMIM:615220|UMLS:C3808844|DOID:0110347 owl:Class HGNC:12496 biolink:NamedThing UBE3A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002729 biolink:NamedThing rhabdoid tumor of the kidney A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor. tmpaxzxjjyw_mondo_relaxed.owl rhabdoid tumor of the kidney (RTK)|rhabdoid neoplasm of kidney|rhabdoid tumour of the kidney|kidney rhabdoid tumor|rhabdoid neoplasm of the kidney|renal rhabdoid tumor|kidney rhabdoid cancer|rhabdoid tumor of the kidney|MRTK|malignant rhabdoid tumor of kidney|renal rhabdoid neoplasm|rhabdoid tumour of kidney|malignant rhabdoid tumor of the kidney DOID:3674|EFO:1000512|UMLS:C0854917|NCIT:C8715 owl:Class PATO:0015023 biolink:NamedThing decreased combustibility An decrease in combustibility. tmpaxzxjjyw_mondo_relaxed.owl noncombustible owl:Class MONDO:0013428 biolink:NamedThing Meier-Gorlin syndrome 2 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene. tmpaxzxjjyw_mondo_relaxed.owl Meier-Gorlin syndrome 2|Meier-GORLIN syndrome 2|MGORS2|Meier-Gorlin syndrome type 2|ORC4 Meier-Gorlin syndrome|Meier-Gorlin syndrome caused by mutation in ORC4 OMIM:613800|Orphanet:2554|UMLS:C3151097|DOID:0080513 owl:Class HGNC:9944 biolink:NamedThing RDX tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008913 biolink:NamedThing cardiac valvular defect, developmental tmpaxzxjjyw_mondo_relaxed.owl CVDD|CARDIAC valvular defect, developmental|cardiac valvular defect, developmental DOID:0080633|MESH:C565882|UMLS:C1859330|OMIM:212093 owl:Class UBERON:0001543 biolink:NamedThing popliteal lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006198 biolink:NamedThing endometrial squamous cell carcinoma A primary carcinoma of the endometrium characterized by the presence of malignant squamous cells. tmpaxzxjjyw_mondo_relaxed.owl endometrial squamous cell carcinoma|squamous cell carcinoma of endometrium|endometrium squamous cell carcinoma|squamous cell carcinoma of the endometrium EFO:1000240|UMLS:C1333396|NCIT:C8719|DOID:5533 owl:Class NCBITaxon:10404 biolink:NamedThing Hepadnaviridae tmpaxzxjjyw_mondo_relaxed.owl hepatitis B-type viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014151 biolink:NamedThing pulmonary hypertension, neonatal, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl pulmonary hypertension, neonatal, susceptibility to|susceptibility to neonatal pulmonary hypertension|PHN OMIM:615371 owl:Class HGNC:2323 biolink:NamedThing CPS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005544 biolink:NamedThing hippocampal sclerosis of aging Age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus tmpaxzxjjyw_mondo_relaxed.owl EFO:0005678 owl:Class MONDO:0010152 biolink:NamedThing trichomegaly-retina pigmentary degeneration-dwarfism syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl eyelashes, long with intellectual disability|trichomegaly with mental retardation, dwarfism, and pigmentary Degeneration of retina|trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina|OMCS|Oliver McFarlane syndrome|long eyelashes-intellectual disability syndrome|eyelashes, long, with intellectual disability|eyelashes, long, with mental retardation|trichomegaly with intellectual disability, dwarfism, and pigmentary Degeneration of retina|Oliver-McFarlane syndrome DOID:0111271|GARD:0005266|Orphanet:3363|UMLS:C1848745|OMIM:275400|SCTID:719944006|MESH:C536554 owl:Class UBERON:0003120 biolink:NamedThing pharyngeal arch artery 3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024464 biolink:NamedThing pituitary hormone deficiency, combined, 1 Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene. tmpaxzxjjyw_mondo_relaxed.owl POU1F1 combined pituitary hormone deficiencies, genetic form|CPHD1|combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1|pituitary hormone deficiency, combined, 1|pituitary hormone deficiency, combined 1 Orphanet:95494|MESH:C567803|GARD:0010601|OMIM:613038|UMLS:C2751608 owl:Class MONDO:0013768 biolink:NamedThing arterial calcification, generalized, of infancy, 2 Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene. tmpaxzxjjyw_mondo_relaxed.owl arterial calcification, generalized, of infancy, 2|arterial calcification of infancy caused by mutation in ABCC6|GACI2|ABCC6 arterial calcification of infancy|arterial calcification, generalized, of infancy, type 2 OMIM:614473|UMLS:C3276161|Orphanet:51608 owl:Class CHEBI:50681 biolink:NamedThing methotrexate(2-) tmpaxzxjjyw_mondo_relaxed.owl (2S)-2-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzamido)pentanedioate|methotrexate owl:Class CL:0000287 biolink:NamedThing eye photoreceptor cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0014987 biolink:NamedThing Fanconi anemia complementation group U Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene. tmpaxzxjjyw_mondo_relaxed.owl Fanconi Anemia, complementation group U|Fanconi anemia, complementation GROUP U|XRCC2 Fanconi anemia|FANCU|Fanconi anemia caused by mutation in XRCC2|Fanconi anemia complementation group type U|Fanconi Anemia, complementation group type U UMLS:C4310651|OMIM:617247|DOID:0111085 owl:Class HGNC:12829 biolink:NamedThing XRCC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018181 biolink:NamedThing staphylococcal scalded skin syndrome A blistering skin disorder caused by exfoliative toxins produced by Staphylococcus aureus infection. The toxins cause the formation of bullae and diffuse skin desquamation. The lesions may be localized or generalized, far away from the initial site of infection. tmpaxzxjjyw_mondo_relaxed.owl dermatitis exfoliativa neonatorum|Ritter disease|pemphigus neonatorum|generalized exfoliative disease|SSSS|toxic epidermal necrolysis, subcorneal type|staphylococcal scalded skin syndrome|scalded skin syndrome|Ritter's disease ICD9:695.81|SCTID:277475006|NCIT:C85077|EFO:0007473|ICD10:L00|Orphanet:36236|SCTID:200946001|UMLS:C0038165|MESH:D013206|DOID:9063|UMLS:C0678185|MedDRA:10041929 owl:Class CL:1000443 biolink:NamedThing ciliary muscle cell A smooth muscle cell that is part of the ciliary body. tmpaxzxjjyw_mondo_relaxed.owl smooth muscle cell of ciliary body FMA:70610 cell owl:Class UBERON:0014398 biolink:NamedThing respiratory muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002437 biolink:NamedThing mature CD8 single-positive thymocyte A mature CD8-positive, CD4-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor. tmpaxzxjjyw_mondo_relaxed.owl T.8SP24-.Th tmeehan 2010-10-21T03:51:50Z cell owl:Class CL:0002434 biolink:NamedThing CD24-positive, CD8 single-positive thymocyte A CD8-positive, CD4-negative thymocyte that is CD24-positive and expresses high levels of the alpha-beta T cell receptor. tmpaxzxjjyw_mondo_relaxed.owl T.8SP24int.Th|CD24-positive, CD8 single-positive semimature thymocyte Described in the immgene database as being CD24-intermediate. tmeehan 2010-10-21T02:59:10Z cell owl:Class GO:0009081 biolink:NamedThing branched-chain amino acid metabolic process The chemical reactions and pathways involving amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine. tmpaxzxjjyw_mondo_relaxed.owl branched chain family amino acid metabolism owl:Class UBERON:0004160 biolink:NamedThing proepicardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:318 biolink:NamedThing AGA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016115 biolink:NamedThing bulbospinal muscular atrophy of adulthood A bulbospinal muscular atrophy that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl adult bulbospinal muscular atrophy|bulbospinal muscular atrophy of adults|bulbospinal muscular atrophy of adult Orphanet:206707|ICD10:G12.2 owl:Class MONDO:0012083 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 28 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene. tmpaxzxjjyw_mondo_relaxed.owl DFNA28|autosomal dominant deafness 28|autosomal dominant nonsyndromic deafness type 28|deafness, autosomal dominant type 28|deafness, autosomal dominant 28|GRHL2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in GRHL2|autosomal dominant nonsyndromic deafness 28 ICD10:H90.3|OMIM:608641|UMLS:C1837640|DOID:0110557|Orphanet:90635|MESH:C563890 owl:Class HGNC:16369 biolink:NamedThing PARK7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11742 biolink:NamedThing TFAP2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:23 biolink:NamedThing ABAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33888 biolink:NamedThing cobalt molecular entity tmpaxzxjjyw_mondo_relaxed.owl cobalt molecular entity|cobalt compounds|cobalt molecular entities owl:Class CHEBI:25555 biolink:NamedThing nitrogen atom tmpaxzxjjyw_mondo_relaxed.owl nitrogen|azote|N|Stickstoff|7N|nitrogeno owl:Class MONDO:0010560 biolink:NamedThing cleft palate with or without ankyloglossia, X-linked X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported. tmpaxzxjjyw_mondo_relaxed.owl cleft palate, X-linked|cleft palate X-linked|X-linked cleft palate|CPX|cleft palate with or without ankyloglossia, X-linked|X-linked cleft palate and ankyloglossia SCTID:766761000|MESH:C536426|GARD:0001394|Orphanet:324601|ICD10:Q35.9|DOID:0060613|OMIM:303400 https://rarediseases.info.nih.gov/diseases/1394/cleft-palate-x-linked owl:Class MONDO:0014393 biolink:NamedThing lymphatic malformation 4 Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary lymphedema caused by mutation in VEGFC|lymphedema, hereditary, 1D|LMPH1D|VEGFC hereditary lymphedema|lymphedema, hereditary, type 1D UMLS:C4014628|Orphanet:79452|DOID:0070209|OMIM:615907 owl:Class MONDO:0012736 biolink:NamedThing long QT syndrome 9 Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene. tmpaxzxjjyw_mondo_relaxed.owl long QT syndrome type 9|CAV3 long QT syndrome|long QT syndrome 9|long QT syndrome 2/9, digenic|LQT9|long QT syndrome caused by mutation in CAV3|long QT syndrome 9, acquired, susceptibility to OMIM:611818|ICD10:I45.8|Orphanet:768|MESH:C567515|DOID:0110650|GARD:0010435|Orphanet:101016 https://rarediseases.info.nih.gov/diseases/10435/long-qt-syndrome-9 owl:Class UBERON:0004222 biolink:NamedThing stomach smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:32486 biolink:NamedThing L-phenylalaninate An optically active form of phenylalaninate having L-configuration. tmpaxzxjjyw_mondo_relaxed.owl L-phenylalanine anion|L-phenylalaninate|(2S)-2-amino-3-phenylpropanoate owl:Class MONDO:0013407 biolink:NamedThing retinitis pigmentosa 47 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene. tmpaxzxjjyw_mondo_relaxed.owl SAG retinitis pigmentosa|retinitis pigmentosa 47|RP47|retinitis pigmentosa type 47|retinitis pigmentosa caused by mutation in SAG OMIM:613758|ICD10:H35.5|UMLS:C3151061|DOID:0110369 owl:Class MONDO:0014313 biolink:NamedThing autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency type 20|CD16 deficiency|autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity|immunodeficiency 20|IMD20 ICD10:D84.8|UMLS:C3810342|OMIM:615707|Orphanet:437552 owl:Class HGNC:3619 biolink:NamedThing FCGR3A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010023 biolink:NamedThing combined immunodeficiency due to ZAP70 deficiency Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 48|selective T-cell defect|STCD|ZAP-70 deficiency|severe combined immunodeficiency due to ZAP70 deficiency|zeta-associated-protein 70 deficiency|IMD48 Orphanet:911|GARD:0000387|ICD10:D81.8|MESH:C536722|SCTID:716378008|OMIM:269840 owl:Class CHEBI:67079 biolink:NamedThing anti-inflammatory agent Any compound that has anti-inflammatory effects. tmpaxzxjjyw_mondo_relaxed.owl antiinflammatory agents|anti-inflammatory agents|antiinflammatory agent owl:Class MONDO:0009020 biolink:NamedThing macular corneal dystrophy Macular corneal dystrophy (MCD) is a rare, severe form of stromal corneal dystrophy characterized by bilateral ill-defined cloudy regions within a hazy stroma, and eventually severe visual impairment. tmpaxzxjjyw_mondo_relaxed.owl Groenouw type 2 corneal dystrophy|macular corneal dystrophy, type 1|macular dystrophy, corneal type 1|Mcdc1, formerly|Fehr corneal dystrophy|Groenouw type II corneal dystrophy|macular dystrophy, corneal, 1|macular dystrophy, corneal|macular corneal dystrophy type 1|corneal dystrophy, macular type|MCD|Mcdc1|macular corneal dystrophy, type 2|macular corneal dystrophy|corneal dystrophy Groenouw type II ICD10:H18.55|DOID:2565|Orphanet:98969|MESH:D003317|GARD:0006953|NCIT:C34793|UMLS:C0024439|SCTID:60258001|ICD9:371.55|OMIM:217800|ICD10:H18.5|MedDRA:10025406|MESH:C537834 owl:Class MONDO:0012554 biolink:NamedThing cerebrooculofacioskeletal syndrome 4 Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene. tmpaxzxjjyw_mondo_relaxed.owl COFS syndrome caused by mutation in ERCC1|ERCC1 COFS syndrome|cerebrooculofacioskeletal syndrome 4|cerebrooculofacioskeletal syndrome type 4|COFS4 NCIT:C173104|Orphanet:191|UMLS:C1853100|Orphanet:1466|MESH:C565184|OMIM:610758 owl:Class HGNC:30794 biolink:NamedThing CEP57 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012985 biolink:NamedThing hereditary spherocytosis type 5 Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary spherocytosis type 5|SPH5|EPB42 hereditary spherocytosis|hereditary spherocytosis caused by mutation in EPB42|spherocytosis, hereditary, 5|HS5|spherocytosis, type 5|hereditary spherocytosis 5 Orphanet:822|UMLS:C2675192|OMIM:612690|MESH:C567202|DOID:0110920 owl:Class MONDO:0014163 biolink:NamedThing left ventricular noncompaction 10 Any left ventricular noncompaction in which the cause of the disease is a mutation in the MYBPC3 gene. tmpaxzxjjyw_mondo_relaxed.owl left ventricular noncompaction caused by mutation in MYBPC3|left ventricular noncompaction type 10|left ventricular noncompaction 10|MYBPC3 left ventricular noncompaction|LVNC10|cardiomyopathy, dilated, 1Mm Orphanet:54260|Orphanet:154|OMIM:615396|UMLS:C3715165 owl:Class MONDO:0006582 biolink:NamedThing mongolian spot A benign, flat, congenital birthmark, with wavy borders and an irregular shape. The colour is caused by melanocytes, melanin-containing cells, that are usually located in the surface of the skin (the epidermis), but are in the deeper region (the dermis) in the location of the spot. tmpaxzxjjyw_mondo_relaxed.owl Mongolian macula|congenital dermal melanocytosis|blue sacral spot UMLS:C0265985|EFO:1000736|Wikipedia:Mongolian_spot|SCTID:40467008|NCIT:C3945|DOID:4702|MESH:D049328 owl:Class N2e2a8a5ecea04e1a9001ccce68456788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010077 biolink:NamedThing spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal. tmpaxzxjjyw_mondo_relaxed.owl spondylometaepiphyseal dysplasia short limb-hand type|Smed, type 2|spondylometaepiphyseal dysplasia, short limb-hand type|Smed, short limb-hand type|Smed-SL|SMED type 2|SMED short limb-hand type|spondyloepimetaphyseal dysplasia - short limb - abnormal calcification|Smed-SL/Ac|Smed short limb-abnormal calcification type|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type|Smed, short limb-abnormal calcification type|spondylometaepiphyseal dysplasia short limb-abnormal calcification type Orphanet:93358|GARD:0010616|MESH:C564794|OMIM:271665|UMLS:C1849011|ICD10:Q77.7 owl:Class MONDO:0013379 biolink:NamedThing Noonan syndrome 7 Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene. tmpaxzxjjyw_mondo_relaxed.owl Noonan syndrome caused by mutation in BRAF|Noonan syndrome type 7|Noonan syndrome 7|NS7|BRAF Noonan syndrome Orphanet:648|UMLS:C3150970|DOID:0060585|OMIM:613706 owl:Class HsapDv:0000140 biolink:NamedThing 46-year-old human stage Middle aged stage that refers to an adult who is over 46 and under 47. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000139 biolink:NamedThing 45-year-old human stage Middle aged stage that refers to an adult who is over 45 and under 46. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:30064 biolink:NamedThing PBRM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7450 biolink:NamedThing MTMR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19104 biolink:NamedThing NPHP4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011648 biolink:NamedThing radiation-induced meningioma tmpaxzxjjyw_mondo_relaxed.owl radiation induced meningioma|meningioma, radiation-induced|Mnri UMLS:C1853554|Orphanet:2495|OMIM:606190|GARD:0008491|MESH:C536266 https://rarediseases.info.nih.gov/diseases/8491/radiation-induced-meningioma owl:Class PATO:0000407 biolink:NamedThing flat A quality inhering in a bearer by virtue of the bearer's having a horizontal surface without a slope, tilt, or curvature. tmpaxzxjjyw_mondo_relaxed.owl plate-like owl:Class UBERON:0004215 biolink:NamedThing back nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015349 biolink:NamedThing thyroid hormone transmembrane transporter activity Enables the transfer of thyroid hormones from one side of a membrane to the other. Thyroid hormone are any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070327 biolink:NamedThing thyroid hormone transport The directed movement of thyroid hormone into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl triiodothyronine transport|thyroxine transport owl:Class MONDO:0012420 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 49 An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 49|autosomal recessive deafness 49|autosomal recessive nonsyndromic deafness 49|DFNB49|MARVELD2 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness type 49|deafness, autosomal recessive type 49|autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2 DOID:0110506|ICD10:H90.3|NCIT:C129024|MESH:C565717|OMIM:610153|UMLS:C1857811 owl:Class HGNC:26401 biolink:NamedThing MARVELD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006422 biolink:NamedThing small intestinal tubulovillous adenoma A neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000539|NCIT:C43553|UMLS:C1710113 owl:Class HGNC:8761 biolink:NamedThing PDCD10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:9002028 biolink:NamedThing exposure to greenhouse gas An exposure to greenhouse gas. tmpaxzxjjyw_mondo_relaxed.owl exposure to greenhouse gas owl:Class MONDO:0010099 biolink:NamedThing Tay-Sachs disease AB variant GM2 gangliosidosis, AB variant is an extremely rare, severe genetic disorder characterized by progressive neurological decline due to ganglioside activator deficiency. tmpaxzxjjyw_mondo_relaxed.owl Ab variant GM2-gangliosidosis|hexosaminidase activator deficiency|GM2 gangliosidosis, AB variant|GM2-gangliosidosis, AB variant|Tay-Sachs disease, variant AB|Tay-Sachs disease, AB variant|GM2 activator deficiency OMIM:272750|ICD10:E75.0|Orphanet:309246|DOID:4795|MESH:D049290|SCTID:71253000|UMLS:C0268275|NCIT:C133084 owl:Class HGNC:4367 biolink:NamedThing GM2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005607 biolink:NamedThing chronic bronchitis A type of chronic obstructive pulmonary disease characterized by chronic inflammation in the bronchial tree that results in edema, mucus production, obstruction, and reduced airflow to and from the lung alveoli. The most common cause is tobacco smoking. Signs and symptoms include coughing with excessive mucus production, and shortness of breath. tmpaxzxjjyw_mondo_relaxed.owl bronchitis, chronic ICD9:491.9|ICD9:491|ICD9:491.8|NCIT:C26722|SCTID:63480004|EFO:0006505|UMLS:C0008677 owl:Class UBERON:0014388 biolink:NamedThing kidney collecting duct epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009883 biolink:NamedThing alpha-2-plasmin inhibitor deficiency Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl antiplasmin deficiency|congenital alpha2-antiplasmin deficiency|alpha-2-plasmin inhibitor deficiency|plasmin inhibitor deficiency|antiplasmin defiency|anti-plasmin deficiency, congenital|antiplasmin deficiency, congenital UMLS:C2752081|OMIM:262850|ICD10:D68.8|MESH:C537777|SCTID:716746003|GARD:0000731|DOID:0060601|Orphanet:79 owl:Class HGNC:9075 biolink:NamedThing SERPINF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014189 biolink:NamedThing age related macular degeneration 13 Any age-related macular degeneration in which the cause of the disease is a mutation in the CFI gene. tmpaxzxjjyw_mondo_relaxed.owl macular degeneration, age-related, 13|CFI age-related macular degeneration|age-related macular degeneration caused by mutation in CFI|age related macular degeneration type 13|macular Degeneration, age-related, type 13|ARMD13 UMLS:C3809523|OMIM:615439|DOID:0110025 owl:Class N268630e369424e30a5f6278955884713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0012547 biolink:NamedThing Noonan syndrome 4 Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene. tmpaxzxjjyw_mondo_relaxed.owl Noonan syndrome type 4|NS4|SOS1 Noonan syndrome|Noonan syndrome 4|Noonan syndrome caused by mutation in SOS1|SOS1 gene related Noonan syndrome OMIM:610733|MESH:C548082|UMLS:C1853120|Orphanet:648|GARD:0010699|DOID:0060582 https://rarediseases.info.nih.gov/diseases/10699/noonan-syndrome-4 owl:Class UBERON:0035471 biolink:NamedThing posterior surface of kidney tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11326 biolink:NamedThing SSR4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6354 biolink:NamedThing KLHL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019098 biolink:NamedThing autoimmune thrombocytopenia An autoimmune form of thrombocytopenia. tmpaxzxjjyw_mondo_relaxed.owl ICD10:D69.3|MedDRA:10050245|Orphanet:71203|SCTID:128091003|UMLS:C0242584 owl:Class GO:0005884 biolink:NamedThing actin filament A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl microfilament owl:Class HGNC:21694 biolink:NamedThing POU6F2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021325 biolink:NamedThing malignant neoplasm of thoracic esophagus A cancer that involves the thoracic part of esophagus. tmpaxzxjjyw_mondo_relaxed.owl thoracic part of esophagus cancer|malignant neoplasm of thoracic part of esophagus|malignant thoracic part of esophagus neoplasm|malignant neoplasm of the thoracic esophagus|cancer of thoracic part of esophagus UMLS:C0153411|ICD9:150.1|NCIT:C3532|SCTID:187723009 owl:Class UBERON:0035216 biolink:NamedThing thoracic part of esophagus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005631 biolink:NamedThing extraembryonic membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6770 biolink:NamedThing SMAD4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013468 biolink:NamedThing retinitis pigmentosa 59 Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 59|congenital disorder of glycosylation, type Ibb|retinitis pigmentosa 59|DHDDS retinitis pigmentosa|retinitis pigmentosa caused by mutation in DHDDS|RP59 UMLS:C3151227|OMIM:613861|ICD10:H35.5|DOID:0110352 owl:Class MONDO:0014240 biolink:NamedThing periventricular nodular heterotopia 6 Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene. tmpaxzxjjyw_mondo_relaxed.owl ERMARD periventricular nodular heterotopia|periventricular nodular heterotopia caused by mutation in ERMARD|periventricular nodular heterotopia 6|PVNH6|periventricular nodular heterotopia type 6 UMLS:C3809872|OMIM:615544|Orphanet:2149|Orphanet:98892 owl:Class HGNC:21056 biolink:NamedThing ERMARD tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000329 biolink:NamedThing oxygen accumulating cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class GO:0015671 biolink:NamedThing oxygen transport The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904081 biolink:NamedThing positive regulation of transcription from RNA polymerase II promoter involved in neuron differentiation Any positive regulation of transcription from RNA polymerase II promoter that is involved in neuron differentiation. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of transcription from Pol II promoter involved in neuron differentiation|stimulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of transcription from RNA polymerase II promoter, global involved in neuron differentiation|upregulation of transcription from RNA polymerase II promoter involved in neuron differentiation|upregulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|up regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|up regulation of transcription from RNA polymerase II promoter involved in neuron differentiation|up-regulation of transcription from RNA polymerase II promoter involved in neuron differentiation|stimulation of transcription from RNA polymerase II promoter involved in neuron differentiation|up-regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation|activation of global transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of global transcription from Pol II promoter involved in neuron differentiation|activation of transcription from RNA polymerase II promoter involved in neuron differentiation|positive regulation of gene-specific transcription from RNA polymerase II promoter involved in neuron differentiation owl:Class GO:0030182 biolink:NamedThing neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007510 biolink:NamedThing Clouston syndrome Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. tmpaxzxjjyw_mondo_relaxed.owl Clouston syndrome|Clouston's syndrome|hidrotic ectodermal dysplasia syndrome|palmoplantar hyperkeratosis and alopecia|ectodermal dysplasia, hidrotic, autosomal dominant|ED2|alopecia, dysplastic nails, palmar and plantar hyperkeratosis|ectodermal dysplasia, hidrotic, 2, formerly|Patel Bixler syndrome|autosomal dominant hidrotic ectodermal dysplasia|Clouston's hidrotic ectodermal dysplasia|ectodermal dysplasia 2, Clouston type|ectodermal dysplasia, hidrotic, 2|hidrotic ectodermal dysplasia, autosomal dominant|hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic|Clouston hidrotic ectodermal dysplasia SCTID:54209007|GARD:0002056|MESH:D004476|Orphanet:189|OMIM:129500|GARD:0004253|DOID:14693|ICD10:Q82.8 owl:Class MONDO:0010912 biolink:NamedThing fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital fibrosis of extraocular muscles caused by mutation in TUBB3|Feom3 locus|TUBB3 congenital fibrosis of extraocular muscles|fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement|CFEOM3A MESH:C567572|OMIM:600638|UMLS:C2748801|Orphanet:45358 owl:Class GO:0070085 biolink:NamedThing glycosylation The covalent attachment and further modification of carbohydrate residues to a substrate molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003720 biolink:NamedThing anterior cranial fossa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013906 biolink:NamedThing amelogenesis imperfecta hypomaturation type 2A4 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene. tmpaxzxjjyw_mondo_relaxed.owl amelogenesis imperfecta, hypomaturation type, IIA4|AI2A4|amelogenesis imperfecta hypomaturation type IIA4|amelogenesis imperfecta type IIA4|ODAPH amelogenesis imperfecta|amelogenesis imperfecta caused by mutation in ODAPH Orphanet:100033|ICD10:K00.5|UMLS:C3553830|OMIM:614832|DOID:0110062 owl:Class MONDO:0013902 biolink:NamedThing aortic valve disease 2 Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene. tmpaxzxjjyw_mondo_relaxed.owl SMAD6 aortic valve disease|AOVD2|aortic valve disease 2|aortic valve disease caused by mutation in SMAD6|bicuspid aortic valve|aortic valve stenosis|aortic valve disease type 2 OMIM:614823|UMLS:C3542024|Orphanet:402075|DOID:0080334 owl:Class ENVO:01000983 biolink:NamedThing technosphere A part of an astronomical body which includes, as parts, all the entities which have been constructed or manufactured by humans or their technology and which are within the gravitational sphere of influence of that body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1033 biolink:NamedThing BDNF tmpaxzxjjyw_mondo_relaxed.owl owl:Class PO:0008028 biolink:NamedThing reproductive shoot apical meristem A shoot apical meristem (PO:0020148) that gives rise to the apical growth of reproductive tissues and organs. tmpaxzxjjyw_mondo_relaxed.owl 生殖シュート頂端 分裂組織 (Japanese, exact)|meristema apical reproductivo del epiblasto (epiblastema) (Spanish, exact) PO_GIT:36 plant_anatomy owl:Class MONDO:0021104 biolink:NamedThing alcoholic fatty liver disease Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated. tmpaxzxjjyw_mondo_relaxed.owl alcoholic Steatohepatitis|alcoholic fatty liver UMLS:C2718067|UMLS:C0015696|MESH:D005235|ICD9:571.0|SCTID:50325005 owl:Class UBERON:0007647 biolink:NamedThing ectomeninx tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25726 biolink:NamedThing LAS1L tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001651 biolink:NamedThing right pulmonary artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008163 biolink:NamedThing otofaciocervical syndrome Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated. tmpaxzxjjyw_mondo_relaxed.owl OFC syndrome|Fara-Chlupackova syndrome ICD10:Q87.0|OMIM:166780|Orphanet:2792|UMLS:C1833691|GARD:0004169|UMLS:C3714941|OMIM:615560|OMIMPS:166780 owl:Class MONDO:0007173 biolink:NamedThing atrial septal defect 7 Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type, associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block. tmpaxzxjjyw_mondo_relaxed.owl atrial septal defect 7, with or without AV conduction defects|atrial heart septal defect caused by mutation in NKX2-5|atrial heart septal defect type 7|ASD with or without atrioventricular conduction defects|atrial septal defect-atrioventricular conduction defects syndrome|ASD7|atrial septal defect 7 with or without atrioventricular conduction defects|NKX2-5 atrial heart septal defect ICD10:Q21.1|OMIM:108900|DOID:0110112|UMLS:C3502353|Orphanet:1479 owl:Class Nea3cdcd2bab04e9aad4d3b69fd551767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008304 biolink:NamedThing premature chromatid separation trait tmpaxzxjjyw_mondo_relaxed.owl total premature chromatid separation trait|PCS|premature chromatid separation trait OMIM:176430|UMLS:C1864389|EFO:0009077 owl:Class HGNC:404 biolink:NamedThing ALDH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017786 biolink:NamedThing 2q23.1 microduplication syndrome 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. tmpaxzxjjyw_mondo_relaxed.owl dup(2)(q23.1)|trisomy 2q23.1 ICD10:Q92.3|UMLS:CN203736|Orphanet:313947|SCTID:766816008 owl:Class CL:0002366 biolink:NamedThing myometrial cell A smooth muscle cell of the myometrium that enlarges and stretches during pregnancy, and contracts in response to oxytocin. tmpaxzxjjyw_mondo_relaxed.owl myometrium smooth muscle cell BTO:0004519 tmeehan 2010-09-23T03:46:34Z cell owl:Class MONDO:0016843 biolink:NamedThing 20q13.33 microdeletion syndrome 20q13.33 is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20 with a highly variable phenotype typically characterized by hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. tmpaxzxjjyw_mondo_relaxed.owl monosomy 20q13.33|Del(20)(q13.33) UMLS:CN202183|Orphanet:261311|UMLS:C4518823|SCTID:733520002|ICD10:Q93.5 owl:Class UBERON:0000203 biolink:NamedThing pallium tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2702 biolink:NamedThing Gardnerella vaginalis tmpaxzxjjyw_mondo_relaxed.owl Haemophilus vaginalis|Corynebacterium vaginale|Haemophilus hemolyticus vaginalis GC_ID:11|PMID:14361525|PMID:8782675 ncbi_taxonomy owl:Class MONDO:0010469 biolink:NamedThing epsilon-trimethyllysine hydroxylase deficiency tmpaxzxjjyw_mondo_relaxed.owl susceptibility to X-linked autism 6|epsilon-trimethyllysine hydroxylase deficiency|EPSILON-trimethyllysine HYDROXYLASE deficiency|autism, susceptibility to, X-linked 6|TMLHED|AUTSX6 OMIM:300872|UMLS:C3550875 owl:Class HGNC:18308 biolink:NamedThing TMLHE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006354 biolink:NamedThing parathyroid hyperplasia A hyperplasia that involves the parathyroid gland. tmpaxzxjjyw_mondo_relaxed.owl parathyroid hyperplasia (disease)|hyperplasia of the parathyroid|parathyroid hyperplasia|parathyroid gland hyperplasia|hyperplasia of parathyroid parathyroid hyperplasia (disease) UMLS:C0271844|EFO:1000457|NCIT:C3989|HP:0008208|SCTID:9092004 owl:Class UBERON:0037237 biolink:NamedThing wall of lacrimal duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:43176 biolink:NamedThing hydroxy group tmpaxzxjjyw_mondo_relaxed.owl hydroxy group|-OH|hydroxyl group|HYDROXY GROUP|hydroxy|hydroxyl owl:Class UBERON:0006715 biolink:NamedThing radio-ulna tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12403 biolink:NamedThing TTN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032620 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 15 tmpaxzxjjyw_mondo_relaxed.owl MC1DN15|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 OMIM:618237 owl:Class HGNC:21034 biolink:NamedThing NDUFAF4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:27089 biolink:NamedThing CARMIL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007171 biolink:NamedThing atrial standstill 1 Any atrial standstill in which the cause of the disease is a mutation in the GJA5 gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, familial, with conduction disturbance|atrial standstill type 1|GJA5 atrial standstill|atrial standstill caused by mutation in GJA5|ATRST1|atrial standstill 1|atrial cardiomyopathy with heart block OMIM:108770|Orphanet:1344 owl:Class NCBITaxon:2169971 biolink:NamedThing Visna-maedi virus tmpaxzxjjyw_mondo_relaxed.owl Visna lentivirus|Maedi/Visna virus|Maedi visna virus MVV|Visna virus|Visna/maedi virus|Maedi visna virus|Maedi-Visna virus GC_ID:1 NCBITaxon:11741|NCBITaxon:31677 ncbi_taxonomy owl:Class MONDO:0013580 biolink:NamedThing pyruvate dehydrogenase E1-beta deficiency Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD) characterized by severe lactic acidosis, developmental delay and hypotonia. tmpaxzxjjyw_mondo_relaxed.owl pyruvate dehydrogenase complex E1 component subunit beta deficiency|pyruvate dehydrogenase E1-beta deficiency|PDHBD|pyruvate dehydrogenase E1-BETA deficiency Orphanet:765|Orphanet:255138|OMIM:614111|ICD10:E74.4|MESH:C566729|UMLS:C3279841 owl:Class HGNC:8808 biolink:NamedThing PDHB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011070 biolink:NamedThing van Maldergem syndrome 1 Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene. tmpaxzxjjyw_mondo_relaxed.owl van Maldergem syndrome caused by mutation in DCHS1|van Maldergem syndrome 1|Cerebrofacioarticular syndrome|DCHS1 van Maldergem syndrome|Van Maldergem syndrome type 1|VMLDS1|VAN Maldergem syndrome 1 OMIM:601390|DOID:0080585|Orphanet:314679 owl:Class HGNC:6266 biolink:NamedThing KCNJ5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002326 biolink:NamedThing lamina propria of urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017776 biolink:NamedThing nocardiosis Nocardiosis is a local (skin, lung, brain) or disseminated (whole body) acute, subacute, or chronic bacterial infection. tmpaxzxjjyw_mondo_relaxed.owl Nocardia infectious disease|Nocardia caused disease or disorder|Nocardia disease or disorder|lung nocardiosis|Nocardia infection ICD10:A43.0|SCTID:29227009|GARD:0007210|ICD10:A43.8|Orphanet:31204|ICD10:A43.1|MedDRA:10029444|EFO:0007397|DOID:2312|ICD10:A43|MESH:D009617|ICD10:A43.9 https://rarediseases.info.nih.gov/diseases/7210/nocardiosis owl:Class NCBITaxon:1824 biolink:NamedThing Nocardia asteroides tmpaxzxjjyw_mondo_relaxed.owl Actinomyces asteroides|Streptotrix asteroides|Discomyces asteroides|Actinomyces eppingeri|Asteroides asteroides|Proactinomyces asteroides|Streptothrix eppingerii|Actinomyces eppinger|Cladothrix asteroides|Oospora asteroides GC_ID:11 ncbi_taxonomy owl:Class GO:0060841 biolink:NamedThing venous blood vessel development The progression of the venous blood vessel over time from its initial formation to the mature structure. Venous blood vessels carry blood back to the heart after the capillary bed. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000616 biolink:NamedThing kidney outer medulla cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001025 cell owl:Class MONDO:0017903 biolink:NamedThing autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR2, leading to impaired response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant MSMD due to partial IFNgammaR2 deficiency|autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency|IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2 ICD10:D84.8|Orphanet:319589|UMLS:CN203963 owl:Class MONDO:0014603 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 40 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 40|autosomal dominant deafness 40|CRYM autosomal dominant nonsyndromic deafness|DFNA40|deafness, autosomal dominant type 40|deafness, autosomal dominant 40|autosomal dominant nonsyndromic deafness type 40|autosomal dominant nonsyndromic deafness caused by mutation in CRYM UMLS:C4084708|OMIM:616357|DOID:0110566|ICD10:H90.3 owl:Class HGNC:2418 biolink:NamedThing CRYM tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00002982 biolink:NamedThing clay A group of hydrous aluminium phyllosilicate (phyllosilicates being a subgroup of silicate minerals) minerals (see clay minerals), that are typically less than 2 micrometres in diameter. Clay consists of a variety of phyllosilicate minerals rich in silicon and aluminium oxides and hydroxides which include variable amounts of structural water. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007271 biolink:NamedThing synaptic transmission, cholinergic The vesicular release of acetylcholine from a presynapse, across a chemical synapse, the subsequent activation of dopamine receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. tmpaxzxjjyw_mondo_relaxed.owl cholinergic synaptic transmission owl:Class HGNC:17975 biolink:NamedThing REEP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11603 biolink:NamedThing TBX4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020720 biolink:NamedThing X-linked hypophosphatemic rickets tmpaxzxjjyw_mondo_relaxed.owl X-linked hypophosphatemic rickets|X-linked hypophosphatemic rickets (recessive or dominant) UMLS:C3540852|MESH:D053098|NCIT:C123265 https://github.com/monarch-initiative/mondo/issues/2844 owl:Class MONDO:0013212 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2N Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N|autosomal dominant axonal Charcot-Marie-Tooth disease type 2N|AARS Charcot-Marie-Tooth disease type 2|CMT2N|Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth neuropathy axonal type 2N|Charcot-Marie-Tooth neuropathy, axonal, type 2N|autosomal dominant Charcot-Marie-Tooth disease type 2N|Charcot-Marie-Tooth disease, axonal, type 2N|Charcot-Marie-Tooth disease type 2 caused by mutation in AARS MESH:C567653|DOID:0110177|OMIM:613287|UMLS:C2750090|UMLS:C4304671|GARD:0012429|Orphanet:228174|SCTID:719515001|ICD10:G60.0 owl:Class HGNC:20 biolink:NamedThing AARS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060301 biolink:NamedThing positive regulation of cytokine activity Any process that increases the rate, frequency or extent of the activity of a molecule that controls the survival, growth, differentiation and effector function of tissues and cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017232 biolink:NamedThing recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. tmpaxzxjjyw_mondo_relaxed.owl IDMDC Orphanet:280384 owl:Class OBO:CHR_9606-chr11q2 biolink:NamedThing 11q2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 135086622 93000000 hg38 owl:Class UBERON:0016534 biolink:NamedThing white matter of temporal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012020 biolink:NamedThing chromosome 22q11.2 microduplication syndrome The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome. tmpaxzxjjyw_mondo_relaxed.owl Duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|22q11.2 microduplication syndrome|dup(22)(q11)|22q11.2 duplication|chromosome 22q11.2 DUPLICATION syndrome|duplication 22q11.2|22q11.2 duplication syndrome|chromosome 22q11.2 duplication syndrome Orphanet:1727|ICD9:758.5|MESH:C567224|ICD10:Q92.3|OMIM:608363|GARD:0010557|DOID:0060436|SCTID:699311001|UMLS:C2675369 https://rarediseases.info.nih.gov/diseases/10557/22q112-duplication-syndrome owl:Class CL:1000274 biolink:NamedThing trophectodermal cell tmpaxzxjjyw_mondo_relaxed.owl trophectoderm cell cell owl:Class MONDO:0044876 biolink:NamedThing drug hypersensitivity syndrome A potentially life-threatening hypersensitivity reaction to a pharmacologic substance that is characterized by rash, lymphadenopathy, fever, hematologic abnormalities and involvement of one or more internal organs. tmpaxzxjjyw_mondo_relaxed.owl Drug reaction with eosinophilia and Systemic symptoms|DHS|Drug hypersensitivity syndrome|dress NCIT:C112208 owl:Class MONDO:0014989 biolink:NamedThing uncombable hair syndrome 2 Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene. tmpaxzxjjyw_mondo_relaxed.owl uncombable hair syndrome 2|uncombable hair syndrome 2; UHS2|UHS2|TGM3 uncombable hair syndrome|uncombable hair syndrome caused by mutation in TGM3|uncombable hair syndrome type 2 OMIM:617251|UMLS:C4310649 owl:Class HGNC:11779 biolink:NamedThing TGM3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:53551 biolink:NamedThing Sabethes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0007376 biolink:NamedThing outer epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000313 biolink:NamedThing organellar ribosome A ribosome contained within a subcellular membrane-bounded organelle. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:5740 biolink:NamedThing Giardia tmpaxzxjjyw_mondo_relaxed.owl Giardia GC_ID:1 ncbi_taxonomy owl:Class N5ca53f9a351f47619d55ca8fa5fec71b biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014006 biolink:NamedThing Schuurs-Hoeijmakers syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant mental retardation 17|intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome|mental retardation, autosomal dominant 17|MRD17|mental retardation, autosomal dominant type 17|intellectual disability, autosomal dominant 17|SHMS|autosomal dominant intellectual disability 17|Schuurs-Hoeijmakers syndrome|PACS1-related syndrome|intellectual disability, autosomal dominant type 17|autosomal dominant intellectual disability-17 DOID:0070047|Orphanet:329224|OMIM:615009|UMLS:C3554343|NCIT:C150555|GARD:0013043 owl:Class MONDO:0006355 biolink:NamedThing parotid gland acinic cell carcinoma An adenocarcinoma with serous acinar cell differentiation that arises from the parotid gland. Patients usually present with a slow growing mass in the parotid area. tmpaxzxjjyw_mondo_relaxed.owl parotid acinic cell carcinoma|acinic cell carcinoma of parotid|acinic cell carcinoma of the parotid|parotid gland acinic cell carcinoma|acinic cell carcinoma of parotid gland|acinic cell carcinoma of the parotid gland|parotid gland acinar cell carcinoma UMLS:C1335353|EFO:1000458|NCIT:C5933 owl:Class NCBITaxon:46684 biolink:NamedThing Ascaridia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001182 biolink:NamedThing superior mesenteric artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007783 biolink:NamedThing malignant hyperthermia, susceptibility to, 1 Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the RYR1 gene. tmpaxzxjjyw_mondo_relaxed.owl MHS1|malignant hyperthermia, susceptibility to, type 1|malignant hyperthermia susceptibility type 1|hyperpyrexia, malignant|RYR1 malignant hyperthermia of anesthesia|malignant hyperthermia, susceptibility to, 1|hyperpyrexia, malignant;MH KING syndrome, included|King syndrome|hyperthermia of anesthesia|MHS|susceptibility to malignant hyperthermia 1|King-Denborough syndrome, included|malignant hyperthermia of anesthesia caused by mutation in RYR1|King-Denborough syndrome UMLS:CN031421|MESH:C535694|Orphanet:423|GARD:0003363|Orphanet:99741|EFO:0009071|OMIM:145600|UMLS:C0024591 https://rarediseases.info.nih.gov/diseases/3363/malignant-hyperthermia-susceptibility-type-1 owl:Class HGNC:10483 biolink:NamedThing RYR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4226 biolink:NamedThing GDI1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000093 biolink:NamedThing bronchus fibroblast of lung Any fibroblast of lung that is part of a bronchus. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2015-03-31T21:16:22Z cell owl:Class MONDO:0013370 biolink:NamedThing long QT syndrome 6 Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene. tmpaxzxjjyw_mondo_relaxed.owl LQT6|long QT syndrome 6, acquired, susceptibility to|long QT syndrome type 6|long QT syndrome caused by mutation in KCNE2|long QT syndrome 3/6, digenic|KCNE2 long QT syndrome|long QT syndrome 6 HGNC:6242|DOID:0110648|GARD:0010434|OMIM:613693|Orphanet:101016|MESH:C566333|UMLS:C3150953|ICD10:I45.8|Orphanet:768 https://rarediseases.info.nih.gov/diseases/10434/long-qt-syndrome-6 owl:Class MONDO:0009629 biolink:NamedThing Desbuquois dysplasia 1 Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene. tmpaxzxjjyw_mondo_relaxed.owl desbuquois syndrome|Desbuquois dysplasia type 1|DBQD1|Desbuquois dysplasia 1|CANT1 Desbuquois dysplasia|Desbuquois dysplasia, Kim variant|Desbuquois dysplasia caused by mutation in CANT1|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification Orphanet:1425|OMIM:251450|UMLS:C0432242|UMLS:C4012146 owl:Class HGNC:9905 biolink:NamedThing RBM8A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009549 biolink:NamedThing hepatic sinusoid of right of lobe of liver tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014942 biolink:NamedThing developmental and epileptic encephalopathy, 45 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 45|epileptic encephalopathy, early infantile, type 45|DEE45|EIEE45|early infantile epileptic encephalopathy caused by mutation in GABRB1|epileptic encephalopathy, early infantile, 45; EIEE45|GABRB1 early infantile epileptic encephalopathy DOID:0080428|UMLS:C4310691|OMIM:617153 owl:Class HGNC:13164 biolink:NamedThing CNBP tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010679 biolink:NamedThing manual digit 5 phalanx cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010579 biolink:NamedThing manual digit 5 phalanx pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1900117 biolink:NamedThing regulation of execution phase of apoptosis Any process that modulates the frequency, rate or extent of execution phase of apoptosis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014648 biolink:NamedThing Al-Raqad syndrome tmpaxzxjjyw_mondo_relaxed.owl AL-RAQAD syndrome|Al-Raqad syndrome|ARS UMLS:C4085595|OMIM:616459 owl:Class HGNC:4601 biolink:NamedThing GRN tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000746 biolink:NamedThing glomerular cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001036 cell owl:Class UBERON:0002808 biolink:NamedThing left temporal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011712 biolink:NamedThing van der Woude syndrome 2 Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene. tmpaxzxjjyw_mondo_relaxed.owl VAN DER Woude syndrome 2|van der Woude syndrome caused by mutation in GRHL3|GRHL3 van der Woude syndrome|van der Woude syndrome 2|VWS2|Van Der Woude syndrome type 2 Orphanet:888|UMLS:C1847604|OMIM:606713|MESH:C536529|GARD:0007846 https://rarediseases.info.nih.gov/diseases/7846/van-der-woude-syndrome-2 owl:Class HGNC:25839 biolink:NamedThing GRHL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004131 biolink:NamedThing anal verrucous carcinoma A large, well differentiated squamous cell carcinoma with a cauliflower-like appearance, characterized by the presence of an exophytic and endophytic growth pattern. Morphologically, there is papillomatosis and acanthosis present, however cytologically the neoplastic squamous cells have a benign appearance. Dysplastic changes are minimal. It does not respond to conservative treatment and it is regarded by many authors as an intermediate lesion between condyloma acuminatum and squamous cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl anal giant (malignant) condyloma|anal Buschke-Lowenstein tumor|anal verrucous carcinoma NCIT:C7470|DOID:7175|UMLS:C1332278 owl:Class MONDO:0004840 biolink:NamedThing non-congenital cyst of kidney tmpaxzxjjyw_mondo_relaxed.owl ICD10:N28.1|UMLS:C0268799|SCTID:105999006|DOID:9621|ICD9:593.2 owl:Class CHEBI:60643 biolink:NamedThing NMDA receptor antagonist Any substance that inhibits the action of N-methyl-D-aspartate (NMDA) receptors. They tend to induce a state known as dissociative anesthesia, marked by catalepsy, amnesia, and analgesia, while side effects can include hallucinations, nightmares, and confusion. Due to their psychotomimetic effects, many NMDA receptor antagonists are used as recreational drugs. tmpaxzxjjyw_mondo_relaxed.owl N-methyl-D-aspartate receptor antagonist|NMDAR antagonist|NMDAR antagonists|NMDA receptor antagonists|N-methyl-D-aspartate receptor antagonists owl:Class HP:0001789 biolink:NamedThing Hydrops fetalis The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:276508000|MSH:D015160|UMLS:C0020305 The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms. human_phenotype owl:Class HGNC:29853 biolink:NamedThing HECW2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000870 biolink:NamedThing regulation of progesterone secretion Any process that modulates the frequency, rate or extent of progesterone secretion. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007122 biolink:NamedThing pharyngeal pouch 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1001603 biolink:NamedThing lung macrophage Circulating macrophages and tissue macrophages (alveolar macrophages) of lung. tmpaxzxjjyw_mondo_relaxed.owl lung macrophages CALOHA:TS-0576 owl:Class HGNC:15761 biolink:NamedThing OSBPL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3416 biolink:NamedThing EPOR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008516 biolink:NamedThing syndactyly type 5 Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. tmpaxzxjjyw_mondo_relaxed.owl SDTY5|syndactyly, type V|postaxial syndactyly with metacarpal synostosis|syndactyly with associated metacarpal and metatarsal fusion|SD5|syndactyly with metacarpal and metatarsal fusion|syndactyly, type 5 MESH:C538155|SCTID:719159004|OMIM:186300|Orphanet:93406|GARD:0005089|ICD10:Q70.0|ICD10:Q70.2 https://rarediseases.info.nih.gov/diseases/5089/syndactyly-type-5 owl:Class UBERON:0005457 biolink:NamedThing left thymus lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004931 biolink:NamedThing submucosa of descending colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9350 biolink:NamedThing PRDM6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001216 biolink:NamedThing ultraviolet stellar radiation A stellar radiation process during which electromagnetic waves or their quanta are emitted from a star at wavelengths between 10 nm and 400 nm. tmpaxzxjjyw_mondo_relaxed.owl ultraviolet solar radiation owl:Class MONDO:0010848 biolink:NamedThing spinocerebellar ataxia type 5 Spinocerebellar ataxia type 5 (SCA5) is a rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia type 5|spinocerebellar ataxia 5|SCA5 ICD10:G11.2|OMIM:600224|DOID:0050882|UMLS:C0752123|SCTID:719302009|Orphanet:98766|GARD:0004953 owl:Class MONDO:0010735 biolink:NamedThing Kennedy disease Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting. tmpaxzxjjyw_mondo_relaxed.owl Kennedy disease|X-linked spinal and bulbar muscular atrophy|SMAX1|spinal bulbar muscular atrophy|Kennedy's disease|spinobulbar muscular atrophy|Kennedy spinal and bulbar muscular atrophy|X-linked bulbo-spinal atrophy|X-linked bulbospinal muscular atrophy|X-linked BSMA|X-linked bulbospinal amyotrophy|bulbospinal muscular atrophy, X-linked|spinal and bulbar muscular atrophy, X-linked type 1|spinal and bulbar muscular atrophy, X-linked 1|SBMA|bulbospinal neuronopathy, X-linked recessive|spinal and bulbar muscular atrophy ICD10:G12.2|GARD:0006818|UMLS:C1839259|MedDRA:10068600|DOID:0060161|MESH:D055534|OMIM:313200|Orphanet:481|NCIT:C85233|SCTID:230253001 owl:Class MONDO:0012092 biolink:NamedThing hereditary sensory and autonomic neuropathy type 5 Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies. tmpaxzxjjyw_mondo_relaxed.owl HSAN5|hereditary sensory and autonomic neuropathy type V|neuropathy, hereditary sensory and autonomic, type V|neuropathy, hereditary sensory and autonomic, type 5|HSAN V|insensitivity to pain, congenital|NGF autosomal recessive hereditary sensory and autonomic neuropathy|autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF|congenital insensitivity to pain and thermal analgesia|HSAN 5 PMID:77656|GARD:0012328|NCIT:C125386|SCTID:128206006|ICD10:G60.8|PMID:14976160|DOID:0070145|GARD:12328|Orphanet:64752|OMIM:608654 owl:Class MONDO:0000706 biolink:NamedThing chemical colitis A colitis caused by the introduction of harsh chemicals to the colon by an enema or other procedure. Chemical colitis can resemble ulcerative colitis, infectious colitis and pseudomembranous colitis endoscopically. tmpaxzxjjyw_mondo_relaxed.owl ICD9:558.9|DOID:0060186|ICD10:K52|SCTID:72965009|ICD9:558 owl:Class GO:0071941 biolink:NamedThing nitrogen cycle metabolic process A nitrogen compound metabolic process that contributes to the nitrogen cycle. The nitrogen cycle is a series of metabolic pathways by which nitrogen is converted between various forms and redox states; it encompasses pathways in which nitrogen is acted upon directly, such as nitrification, denitrification, nitrogen fixation, and mineralization. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004162 biolink:NamedThing uterine corpus cellular leiomyoma A morphologic variant of leiomyoma arising from the uterine corpus. It is characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. tmpaxzxjjyw_mondo_relaxed.owl cellular leiomyoma of body of uterus|uterine corpus cellular leiomyoma|body of uterus cellular leiomyoma NCIT:C40163|UMLS:C1519845|DOID:7242 owl:Class UBERON:0001087 biolink:NamedThing pleural fluid tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000505 biolink:NamedThing kidney pelvis cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001018 cell owl:Class MONDO:0013829 biolink:NamedThing UV-sensitive syndrome 2 Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene. tmpaxzxjjyw_mondo_relaxed.owl UVSS2|UV-sensitive syndrome type 2|UV-sensitive syndrome 2|UV-sensitive syndrome caused by mutation in ERCC8|ERCC8 UV-sensitive syndrome Orphanet:178338|UMLS:C3553298|OMIM:614621 owl:Class CL:0002045 biolink:NamedThing Fraction A pre-pro B cell A pro-B cell that CD45R/B220-positive, CD43-positive, HSA-low, BP-1-negative and Ly6c-negative. This cell type is also described as being lin-negative, AA4-positive, Kit-positive, IL7Ra-positive and CD45R-positive. tmpaxzxjjyw_mondo_relaxed.owl pre pro B cell|fraction A Markers associated with mouse cells. tmeehan 2010-04-28T10:50:07Z cell owl:Class HGNC:3518 biolink:NamedThing EXTL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10411 biolink:NamedThing RPS24 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0014031 biolink:NamedThing mesenchymal cell development The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011043 biolink:NamedThing Abnormality of circulating adrenocorticotropin level An abnormal concentration of corticotropin in the blood. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of circulating adrenocorticotropin level|Abnormality of circulating adrenocorticotropic hormone level|Abnormality of circulating corticotropin level|Abnormality of circulating ACTH level UMLS:C4023574 Adrenocorticotropic hormone (ACTH), also known as corticotropin, is a polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. . It is a component of the hypothalamic-pituitary-adrenal axis and stimulates increased production and release of corticosteroids and cortisol from the adrenal cortex. peter 2011-03-10T07:46:59Z human_phenotype owl:Class CL:0002106 biolink:NamedThing IgD-positive CD38-positive IgG memory B cell An IgD-positive CD38-positive IgG memory B cell is a CD38-positive IgG-positive class switched memory B cell that has class switched and expresses IgD on the cell surface with the phenotype IgD-positive, CD38-positive, and IgG-positive. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class GO:1904171 biolink:NamedThing negative regulation of bleb assembly Any process that stops, prevents or reduces the frequency, rate or extent of bleb assembly. tmpaxzxjjyw_mondo_relaxed.owl inhibition of cell blebbing|downregulation of bleb assembly|downregulation of cell blebbing|down regulation of cell blebbing|down regulation of bleb assembly|down-regulation of cell blebbing|down-regulation of bleb assembly|negative regulation of cell blebbing|inhibition of bleb assembly owl:Class CL:0002000 biolink:NamedThing Kit-positive erythroid progenitor cell An erythroid progenitor cell is Kit-positive, Ly6A-negative, CD41-negative, CD127-negative, and CD123-negative. This cell type is also described as being lin-negative, Kit-positive, CD150-negative, CD41-negative, CD105-positive, and FcgR-negative. tmpaxzxjjyw_mondo_relaxed.owl c- Kit-positive erythroid progenitor cell Markers found on mouse cells. tmeehan 2010-04-26T10:14:16Z cell owl:Class HGNC:2514 biolink:NamedThing CTNNB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030518 biolink:NamedThing intracellular steroid hormone receptor signaling pathway A series of molecular signals generated as a consequence of a intracellular steroid hormone receptor binding to one of its physiological ligands. tmpaxzxjjyw_mondo_relaxed.owl steroid hormone receptor signalling pathway|steroid hormone receptor signaling pathway owl:Class MONDO:0009084 biolink:NamedThing conductive deafness-ptosis-skeletal anomalies syndrome Conductive deafness-ptosis-skeletal anomalies syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978. tmpaxzxjjyw_mondo_relaxed.owl Jackson-Barr syndrome|Jackson Barr syndrome|deafness, conductive, with ptosis and skeletal anomalies|deafness conductive ptosis skeletal anomalies UMLS:C1857340|Orphanet:3236|OMIM:221320|SCTID:763213001|MESH:C535993|GARD:0000305 owl:Class MONDO:0010510 biolink:NamedThing intellectual disability, X-linked 105 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP27X gene. tmpaxzxjjyw_mondo_relaxed.owl USP27X non-syndromic X-linked intellectual disability|mental retardation, X-linked type 105|mental retardation, X-linked 105|intellectual disability, X-linked 105|MRX105|intellectual disability, X-linked type 105|non-syndromic X-linked intellectual disability caused by mutation in USP27X OMIM:300984|UMLS:C4310816 owl:Class MONDO:0100105 biolink:NamedThing brain small vessel disease 3 An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration. tmpaxzxjjyw_mondo_relaxed.owl BSVD3 OMIM:618360 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:26182 biolink:NamedThing COLGALT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002178 biolink:NamedThing left main bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2220 biolink:NamedThing COLEC10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013329 biolink:NamedThing familial clubfoot due to 17q23.1q23.2 microduplication 17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot. tmpaxzxjjyw_mondo_relaxed.owl chromosome 17q23.1-q23.2 DUPLICATION syndrome|hereditary clubfoot due to 17q23.1-q23.2 microduplication Orphanet:238578|OMIM:613618|UMLS:C3150880|ICD10:Q66.8|Orphanet:199315 owl:Class UBERON:0009583 biolink:NamedThing spinal cord mantle layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:2100000 biolink:NamedThing anatomical entity environment An environment which is determined by an anatomical entity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014057 biolink:NamedThing maple syrup urine disease, mild variant tmpaxzxjjyw_mondo_relaxed.owl MSUDMV|maple syrup urine disease, mild variant OMIM:615135|UMLS:C3554575|Orphanet:268162|Orphanet:511 owl:Class UBERON:0003374 biolink:NamedThing chorionic ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3296 biolink:NamedThing EIF4G1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013884 biolink:NamedThing neuronopathy, distal hereditary motor, type 5B Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene. tmpaxzxjjyw_mondo_relaxed.owl neuropathy, distal hereditary motor, type 5B|HMN5B|neuronopathy, distal hereditary motor, type VB|REEP1 neuronopathy, distal hereditary motor|neuronopathy, distal hereditary motor caused by mutation in REEP1|dHMN 5B|HMN 5B|spinal muscular atrophy, distal, type 5B Orphanet:139536|OMIM:614751|UMLS:C3553656|DOID:0111205 owl:Class UBERON:0002288 biolink:NamedThing choroid plexus of third ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000113 biolink:NamedThing Polycystic kidney dysplasia The presence of multiple cysts in both kidneys. tmpaxzxjjyw_mondo_relaxed.owl Polycystic kidneys|Enlarged polycystic kidneys|Polycystic kidney disease SNOMEDCT_US:82525005|MSH:D007690|UMLS:C0022680|Fyler:4508|UMLS:C1567435 Polycystic kidney disease (PKD) is a leading cause of end-stage renal disease. Most commonly, PKD arises as an inherited trait. Tremendous enlargement of both kidneys is characteristic of the autosomal dominant form of PKD, with up to hundreds or thousands of renal cysts. This term does not refer to the disease entity but rather to the finding of numerous cysts in both kidneys. HP:0004740|HP:0004716|HP:0008645|HP:0008673|HP:0008699|HP:0004739 human_phenotype owl:Class CL:0000199 biolink:NamedThing mechanoreceptor cell A cell specialized to transduce mechanical stimuli and relay that information centrally in the nervous system. tmpaxzxjjyw_mondo_relaxed.owl mechanoreceptor cell owl:Class MONDO:0013388 biolink:NamedThing developmental and epileptic encephalopathy, 11 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 11|SCN2A early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 11|EIEE11|early infantile epileptic encephalopathy caused by mutation in SCN2A|DEE11 OMIM:613721|DOID:0080421|UMLS:C3150987 owl:Class GO:0042633 biolink:NamedThing hair cycle The cyclical phases of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000496 biolink:NamedThing hemorrhagic cystitis Inflammation of the bladder resulting in bloody urine. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050859|NCIT:C114666|UMLS:C0085692|SCTID:87696004 owl:Class HP:0000790 biolink:NamedThing Hematuria The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). tmpaxzxjjyw_mondo_relaxed.owl Blood in urine|High urine occult blood MSH:D006417|SNOMEDCT_US:53298000|SNOMEDCT_US:34436003|UMLS:C0018965 human_phenotype owl:Class MONDO:0012147 biolink:NamedThing coronary heart disease, susceptibility to, 5 Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene. tmpaxzxjjyw_mondo_relaxed.owl Chds5|coronary artery disease, early-onset|coronary heart disease, susceptibility to, 5|coronary artery disease caused by mutation in KALRN|susceptibility to coronary heart disease 5|coronary heart disease, susceptibility to, type 5|KALRN coronary artery disease OMIM:608901 owl:Class HGNC:4814 biolink:NamedThing KALRN tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:7180 biolink:NamedThing Haemagogus tmpaxzxjjyw_mondo_relaxed.owl Haemagogus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014783 biolink:NamedThing preimplantation embryonic lethality 1 Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene. tmpaxzxjjyw_mondo_relaxed.owl preimplantation embryonic lethality caused by mutation in TLE6|preimplantation embryonic lethality 1; PREMBL1|Prembl|TLE6 preimplantation embryonic lethality|preimplantation embryonic lethality type 1|PREMBL1|preimplantation embryonic lethality 1 UMLS:C4225197|OMIM:616814 owl:Class HGNC:30788 biolink:NamedThing TLE6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:02500005 biolink:NamedThing land degradation A process which diminishes the functioning of an ecosystem located on land. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013008 biolink:NamedThing combined immunodeficiency due to STIM1 deficiency Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. tmpaxzxjjyw_mondo_relaxed.owl immune dysfunction with T-cell inactivation due to calcium entry defect 2|immunodeficiency type 10|immunodeficiency 10|IMD10|CID due to STIM1 deficiency|STIM1 deficiency OMIM:612783|UMLS:C2748557|ICD10:D81.8|Orphanet:317430|MESH:C557827|GARD:0010523|Orphanet:169090 owl:Class HGNC:11386 biolink:NamedThing STIM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000285 biolink:NamedThing smooth muscle cell of sigmoid colon A smooth muscle cell that is part of the sigmoid colon. tmpaxzxjjyw_mondo_relaxed.owl non-striated muscle fiber of sigmoid colon FMA:17521 cell owl:Class GO:0002643 biolink:NamedThing regulation of tolerance induction Any process that modulates the frequency, rate, or extent of tolerance induction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001205 biolink:NamedThing lithification A process during which sediments compact under pressure, expel connate fluids, and gradually become solid sedimentary rock. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004305 biolink:NamedThing parathyroid oncocytic adenoma A parathyroid gland adenoma composed predominantly or entirely of neoplastic cells with abundant granular eosinophilic cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl parathyroid gland oncocytic adenoma|parathyroid oncocytic adenoma NCIT:C27393|UMLS:C1335351|DOID:7611 owl:Class HGNC:11850 biolink:NamedThing TLR4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011488 biolink:NamedThing microcephaly 3, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive primary microcephaly caused by mutation in CDK5RAP2|microcephaly 3, primary, autosomal recessive|CDK5RAP2 autosomal recessive primary microcephaly|MCPH3 MESH:C565746|UMLS:C1858108|DOID:0070286|OMIM:604804|Orphanet:2512 owl:Class MONDO:0011894 biolink:NamedThing Charcot-Marie-Tooth disease type 2E Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, axonal, type 2E|Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL|NEFL Charcot-Marie-Tooth disease type 2|Charcot-Marie-Tooth neuropathy type 2E|CMT2E|Charcot Marie Tooth disease type 2E|CMT 2E|autosomal dominant Charcot-Marie-Tooth disease type 2E|Charcot-Marie-Tooth neuropathy, type 2E MESH:C537994|SCTID:717012004|ICD10:G60.0|GARD:0009193|OMIM:607684|Orphanet:99939|DOID:0110165|NCIT:C134953 https://rarediseases.info.nih.gov/diseases/9193/charcot-marie-tooth-disease-type-2e owl:Class HGNC:7739 biolink:NamedThing NEFL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006174 biolink:NamedThing cortisol-producing adrenal cortex adenoma An adenoma of the adrenal cortex that produces cortisol. It may be associated with Cushing syndrome. Clinical presentation includes weight gain, round face, easy bruising, muscle weakness, emotional changes, hirsutism, and hypertension. tmpaxzxjjyw_mondo_relaxed.owl cortisol producing adrenal cortical adenoma|cortisol-producing adrenal cortex adenoma|cortisol producing adrenal cortex adenoma UMLS:C1707525|NCIT:C48449|EFO:1000208 owl:Class N323084a05b1b4c00b7cc34c393a78866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0001145 biolink:NamedThing ovarian vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7744 biolink:NamedThing NEK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018736 biolink:NamedThing kaposiform lymphangiomatosis A generalized lymphatic anomaly characterized by kaposiform spindled lymphatic endothelial cells. tmpaxzxjjyw_mondo_relaxed.owl KLA ICD10:D18.1|Orphanet:464329 Despite the histological similarity between KHE and KLA, the clinical and imaging features are distinctive. KHE-spectrum lesions are unifocal vascular tumors, except in rare reports of multifocal disease. KHE typically presents in early infancy with a characteristic purpuric, cutaneous lesion[PMID:24252784] owl:Class MONDO:0016236 biolink:NamedThing kaposiform hemangioendothelioma Kaposiform hemangioendothelioma is a very rare, aggressive, vascular tumor manifesting in the neonatal period or in infancy as cutaneous vascular tumors to large infiltrative lesions. tmpaxzxjjyw_mondo_relaxed.owl Kaposiform hemangio-endothelioma|KHE|congenital cutaneous multifocal kaposiform hemangioendothelioma|Kaposiform hemangioendothelioma|KH GARD:0003077|Orphanet:2122|NCIT:C27510|ICD10:D18.0|UMLS:C1367420|SCTID:403983000|MESH:C537007 https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma owl:Class MONDO:0012246 biolink:NamedThing spinocerebellar ataxia type 26 Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. tmpaxzxjjyw_mondo_relaxed.owl SCA26|spinocerebellar ataxia type 26|spinocerebellar ataxia 26 Orphanet:101112|OMIM:609306|GARD:0009995|UMLS:C1836395|SCTID:718769009|DOID:0050975|MESH:C537203|ICD10:G11.2 owl:Class GO:0097237 biolink:NamedThing cellular response to toxic substance Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013141 biolink:NamedThing autosomal dominant macrothrombocytopenia TUBB1-related Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene. tmpaxzxjjyw_mondo_relaxed.owl macrothrombocytopenia, autosomal dominant, TUBB1-related|autosomal dominant macrothrombocytopenia caused by mutation in TUBB1|TUBB1 autosomal dominant macrothrombocytopenia ICD10:D69.4|OMIM:613112|Orphanet:140957|DOID:0090102|MESH:C567747|UMLS:C2751259 owl:Class MONDO:0022873 biolink:NamedThing corpus callosum dysgenesis cleft spasm tmpaxzxjjyw_mondo_relaxed.owl GARD:0001541 https://rarediseases.info.nih.gov/diseases/1541/corpus-callosum-dysgenesis-cleft-spasm owl:Class MONDO:0010967 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 7 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive type 7|autosomal recessive nonsyndromic deafness type 7|DFNB7|deafness, autosomal recessive 7|TMC1 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 7|DFNB11|autosomal recessive nonsyndromic deafness caused by mutation in TMC1|deafness, autosomal recessive 11|autosomal recessive nonsyndromic deafness 7 MESH:C563417|ICD10:H90.3|UMLS:C1832978|OMIM:600974|DOID:0110520 owl:Class HGNC:16513 biolink:NamedThing TMC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001137 biolink:NamedThing Murray valley encephalitis An disease caused by infection with Murray Valley encephalitis virus. tmpaxzxjjyw_mondo_relaxed.owl Murray Valley encephalitis virus infectious disease|Australian encephalitis|Murray Valley encephalitis virus caused disease or disorder|Murray Valley encephalitis virus disease or disorder|Australian X disease UMLS:C0153066|ICD9:062.4|DOID:10842|ICD10:A83.4|SCTID:66454007 owl:Class MONDO:0002083 biolink:NamedThing Richter syndrome Transformation of chronic lymphocytic leukemia into aggressive non-Hodgkin's lymphoma, usually diffuse large B-cell lymphoma (immunoblastic or centroblastic variant). Occasional cases of transformation to Hodgkin's lymphoma have also been described, particularly in patients treated with purine nucleotide analogues. Molecular genetic studies suggest that in approximately half of the cases, the lymphoma is clonally related to the underlying chronic lymphocytic leukemia, whereas in the remaining cases the lymphoma probably represents a secondary, unrelated neoplasm. tmpaxzxjjyw_mondo_relaxed.owl Richter transformation|Richter's syndrome|Richter's transformation|Richter syndrome UMLS:C0349631|NCIT:C35424|DOID:1703|ICD10:C91.1|SCTID:277550009|GARD:0007578 owl:Class UBERON:0013752 biolink:NamedThing diaphysis of metacarpal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11190 biolink:NamedThing SOX10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0036990 biolink:NamedThing benign Leydig cell tumor A Leydig cell tumor which does not recur or metastasize. Morphologically, there is no evidence of cellular atypia, increased mitotic activity, necrosis, or vascular invasion. tmpaxzxjjyw_mondo_relaxed.owl benign interstitial cell tumor|Leydig cell tumor, benign|benign interstitial cell neoplasm|benign Leydig cell neoplasm|benign Leydig cell tumor|adenoma, interstitial UMLS:C0334409|NCIT:C4212|ICDO:8650/0 owl:Class MONDO:0032613 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 8 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8|MC1DN8 OMIM:618230 owl:Class CL:0002570 biolink:NamedThing mesenchymal stem cell of adipose A mesenchymal stem cell of adipose tissue. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-01T09:57:17Z cell owl:Class MONDO:0005005 biolink:NamedThing clear cell renal carcinoma A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. tmpaxzxjjyw_mondo_relaxed.owl conventional (clear cell) renal cell carcinoma|renal clear cell adenocarcinoma|clear cell kidney carcinoma|clear-cell metastatic renal cell carcinoma|clear cell adenocarcinoma of the kidney|conventional renal cell carcinoma|kidney clear cell carcinoma|hypernephroma|conventional (clear cell) renal cell adenocarcinoma|clear cell carcinoma of the kidney|clear cell renal cell cancer|renal cell carcinoma, clear cell adenocarcinoma|clear cell carcinoma of kidney|Grawitz tumor|clear cell adenocarcinoma, kidney|renal clear cell carcinoma|kidney clear cell adenocarcinoma|clear cell renal cell carcinoma|clear cell adenocarcinoma of kidney|RCC, clear cell adenocarcinoma NCIT:C4033|MESH:D002292|EFO:0000349|SCTID:254915003|ONCOTREE:CCRCC|OMIM:144700|ICD9:189.0|DOID:4467|GARD:0009574 owl:Class MONDO:0008570 biolink:NamedThing thyrotoxic periodic paralysis, susceptibility to, 1 Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene. tmpaxzxjjyw_mondo_relaxed.owl CACNA1S thyrotoxic periodic paralysis|TTPP1|thyrotoxic periodic paralysis, susceptibility to, 1|thyrotoxic periodic paralysis caused by mutation in CACNA1S|thyrotoxic periodic paralysis, susceptibility to, type 1 UMLS:C0268446|OMIM:188580|Orphanet:79102 owl:Class HP:0011031 biolink:NamedThing Abnormality of iron homeostasis An abnormality of the homeostasis (concentration) of iron cation. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023583 peter 2011-03-04T08:01:07Z human_phenotype owl:Class GO:0010877 biolink:NamedThing lipid transport involved in lipid storage The directed movement of lipids into cells that is part of their accumulation and maintenance. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003980 biolink:NamedThing cerebellum fissure tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0012001 biolink:NamedThing neuron of the forebrain A CNS neuron of the forebrain. tmpaxzxjjyw_mondo_relaxed.owl forebrain neuron tberardini cell owl:Class MONDO:0010191 biolink:NamedThing von Willebrand disease 3 Type 3 von Willebrand disease (type 3 VWD) is the most severe form of VWD characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (von Willebrand factor; VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). tmpaxzxjjyw_mondo_relaxed.owl von Willebrand disease 3|von Willebrand's disease type 3|VWD, type 3|von Willebrand disease type III|VWD type 3|von Willebrand's disease 3|Von Willebrand disease, type 3|von Willebrand disease type 3|VWD3|VON WILLEBRAND disease, type 3 DOID:0111054|MESH:D056729|NCIT:C85213|SCTID:128108002|OMIM:277480|Orphanet:166096|UMLS:C1264041|Orphanet:903|ICD10:D68.0 owl:Class MONDO:0014058 biolink:NamedThing facial dysmorphism-immunodeficiency-livedo-short stature syndrome A rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer. tmpaxzxjjyw_mondo_relaxed.owl fils|facial dysmorphism, immunodeficiency, livedo, and short stature|fils syndrome ICD10:Q87.1|OMIM:615139|UMLS:C3554576|Orphanet:352712 owl:Class MONDO:0044889 biolink:NamedThing high grade B-cell lymphoma A term that refers to high grade B-cell lymphoma, not otherwise specified or high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements. tmpaxzxjjyw_mondo_relaxed.owl high-grade B-cell lymphoma|high grade B-cell lymphoma|HGBL UMLS:C0456863|SCTID:277617004|NCIT:C138211 owl:Class HGNC:29597 biolink:NamedThing IRGM tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008826 biolink:NamedThing pulmonary surfactant tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9921 biolink:NamedThing RBP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0031375 biolink:NamedThing Refractory Applies to a sign or symptom that is difficult to treat or cure. tmpaxzxjjyw_mondo_relaxed.owl 2017-09-02 01:54:32+00:00 peter human_phenotype owl:Class MONDO:0002201 biolink:NamedThing vulvar trichoepithelioma A benign neoplasm that arises from the vulva and is characterized by the presence of nests of monomorphic basaloid cells forming small cysts that contain keratin. tmpaxzxjjyw_mondo_relaxed.owl vulvar trichoblastoma|mammalian vulva trichoblastoma|trichoblastoma of mammalian vulva|vulvar trichoepithelioma NCIT:C40314|DOID:2080|UMLS:C1520100 owl:Class MONDO:0008021 biolink:NamedThing Cowden syndrome 1 Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene. tmpaxzxjjyw_mondo_relaxed.owl dysplastic gangliocytoma of the cerebellum|PTEN Cowden disease|CWS1|Cowden syndrome 1|multiple hamartoma syndrome|Cowden syndrome type 1|Cowden disease caused by mutation in PTEN|cerebellar granule cell Hypertrophy and megalencephaly|CS|Proteus-like syndrome|cerebelloparenchymal disorder 6|Lhermitte-Duclos disease Orphanet:65285|Orphanet:201|UMLS:CN072330|OMIM:158350|Orphanet:2969|UMLS:C0018553 owl:Class UBERON:0009959 biolink:NamedThing lumen of oropharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009664 biolink:NamedThing gut mesentery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019364 biolink:NamedThing pseudotyphus of California Pseudotyphus of California is a rare, flea-borne Rickettsial disease caused by a Rickettsia felis infection. Patients can be asymptomatic or can present with unspecific symptoms (such as fever, headache, generalized maculopapular rash, myalgia, arthralgia and, ocasionally, eschar. lymphadenopathy, nausea, vomiting, loss of appetite and abdominal pain. Rarely, serious manifestations may occur and include neurological dysfunction (photophobia, hearing loss, and signs of meningitis) and pulmonary compromise. tmpaxzxjjyw_mondo_relaxed.owl SCTID:764104003|Orphanet:83316|ICD10:A79.8 owl:Class NCBITaxon:42862 biolink:NamedThing Rickettsia felis tmpaxzxjjyw_mondo_relaxed.owl Rickettsia azadi GC_ID:11|PMID:12508865|PMID:8904435|PMID:11321078 NCBITaxon:135271|NCBITaxon:147578 ncbi_taxonomy owl:Class UBERON:0003537 biolink:NamedThing left lung alveolar duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7601 biolink:NamedThing MYO3A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012557 biolink:NamedThing cardiomyopathy-hypotonia-lactic acidosis syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the SLC25A3 gene encoding a mitochondrial membrane transporter. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome|mitochondrial phosphate carrier deficiency|Mpcd UMLS:C1835845|UMLS:C4305259|Orphanet:91130|MESH:C563665|SCTID:718713000|ICD10:G71.3|OMIM:610773 owl:Class MONDO:0013129 biolink:NamedThing cone dystrophy 4 Any cone dystrophy in which the cause of the disease is a mutation in the PDE6C gene. tmpaxzxjjyw_mondo_relaxed.owl COD4|PDE6C cone dystrophy|cone dystrophy 4|achromatopsia 5|cone dystrophy caused by mutation in PDE6C|cone dystrophy type 4 Orphanet:49382|OMIM:613093|NCIT:C164226|Orphanet:1871 owl:Class HGNC:8787 biolink:NamedThing PDE6C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011190 biolink:NamedThing nephronophthisis 2 Any nephronophthisis in which the cause of the disease is a mutation in the INVS gene. tmpaxzxjjyw_mondo_relaxed.owl INVS nephronophthisis (disease)|infantile nephronophthisis 2|Nph2|NPH2|nephronophthisis 2|NPHP2|nephronophthisis type 2|nephronophthisis (disease) caused by mutation in INVS Orphanet:93591|Orphanet:655|DOID:0111113|MESH:C566582|UMLS:C1865872|OMIM:602088 owl:Class HGNC:17870 biolink:NamedThing INVS tmpaxzxjjyw_mondo_relaxed.owl owl:Class N30fb783185f94278a50ba1850a264a69 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HP:0002651 biolink:NamedThing Spondyloepimetaphyseal dysplasia tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:254062008|UMLS:C0432211 human_phenotype owl:Class MONDO:0042970 biolink:NamedThing disorder of glutamate decarboxylase A disease that has its basis in the disruption of glutamate decarboxylase activity. tmpaxzxjjyw_mondo_relaxed.owl disorder of glutamate decarboxylase activity|glutamate decarboxylase deficiency|glutamate decarboxylase activity disease|deficiency of glutamate decarboxylase GARD:0002505|MEDGEN:452941|ICD9:277.6|SCTID:124596009|GTR:AN0168165|UMLS:C1291560|GTR:AN0264281 owl:Class GO:0004351 biolink:NamedThing glutamate decarboxylase activity Catalysis of the reaction: L-glutamate = 4-aminobutanoate + CO2. tmpaxzxjjyw_mondo_relaxed.owl L-glutamate 1-carboxy-lyase (4-aminobutanoate-forming)|L-glutamic acid decarboxylase activity|aspartic alpha-decarboxylase|L-aspartate-alpha-decarboxylase activity|L-glutamic decarboxylase activity|gamma-glutamate decarboxylase activity|cysteic acid decarboxylase activity|L-glutamate 1-carboxy-lyase activity|L-glutamate alpha-decarboxylase activity owl:Class MONDO:0009394 biolink:NamedThing juvenile Paget disease Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss. tmpaxzxjjyw_mondo_relaxed.owl Paget disease juvenile type|osteoectasia, familial|familial hyperphosphatasia|hyperostosid corticalis deformans juvenilis|hereditary hyperphosphatasia|juvenile Paget disease|hyperphosphatasia, familial idiopathic|juvenile Pagets disease|hyperostosis corticalis deformans juvenilis|JPG|JPD|PDB5|hyperphosphatasemia, chronic congenital idiopathic|Paget disease of bone 5, juvenile-onset|juvenile Paget's disease|familial osteoectasia GARD:0002831|NCIT:C131861|ICD10:M88.0|ICD10:M88.8|Orphanet:2801|SCTID:9723006|MESH:C537701|ICD10:M88.9|OMIM:239000 https://rarediseases.info.nih.gov/diseases/2831/juvenile-paget-disease owl:Class MONDO:0010989 biolink:NamedThing Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used. tmpaxzxjjyw_mondo_relaxed.owl Mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|MRKH syndrome type 2|Mayer-Rokitansky-Küster-Hauser syndrome type 2|atypical MRKH syndrome|Mayer-Rokitansky-Kuster-Hauser syndrome, type 2|Klippel-Feil deformity, conductive deafness, and absent vagina|MURCS|MRKH, type 2|MURCS association|Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome|MULLERIAN duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies SCTID:717705004|Orphanet:3109|OMIM:601076|ICD10:Q87.8|GARD:0005513|Orphanet:2578 owl:Class MONDO:0005176 biolink:NamedThing benign insulitis A benign form of insulitis which is an inflammation of the islets of Langerhans of the pancreas. The pancreas and in some cases the Pancreatic β-cells become infiltrated by polymorphonuclear leukocytes and infiltrated by mononuclear cells, leading to inflammation. tmpaxzxjjyw_mondo_relaxed.owl EFO:0002502|PMID:20545565|Wikipedia:Insulitis Benign insulitis describes the process of benign autoreactive T cells infiltrating islets of langerhans, prior to destructive insulitis. owl:Class HGNC:11949 biolink:NamedThing TNNT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010332 biolink:NamedThing epithelium of handplate tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6758 biolink:NamedThing MAB21L2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014539 biolink:NamedThing focal segmental glomerulosclerosis 9 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene. tmpaxzxjjyw_mondo_relaxed.owl CRB2 focal segmental glomerulosclerosis|focal segmental glomerulosclerosis caused by mutation in CRB2|glomerulosclerosis, focal segmental, 9|focal segmental glomerulosclerosis 9|focal segmental glomerulosclerosis type 9|FSGS9 OMIM:616220|ICD10:N04.1|DOID:0111134|UMLS:C4015555 owl:Class MONDO:0014654 biolink:NamedThing Ullrich congenital muscular dystrophy 2 Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene. tmpaxzxjjyw_mondo_relaxed.owl Ullrich congenital muscular dystrophy caused by mutation in COL12A1|Ullrich congenital muscular dystrophy type 2|Ullrich congenital muscular dystrophy 2|UCMD2|COL12A1 Ullrich congenital muscular dystrophy UMLS:C4225314|OMIM:616470 owl:Class UBERON:0004643 biolink:NamedThing lateral ventricle ependyma tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000487 biolink:NamedThing smooth muscle cell of prostate A smooth muscle cell that is part of the prostate gland. tmpaxzxjjyw_mondo_relaxed.owl smooth muscle fiber of prostate FMA:84583 cell owl:Class MONDO:0014459 biolink:NamedThing Adams-Oliver syndrome 5 Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene. tmpaxzxjjyw_mondo_relaxed.owl Adams-Oliver syndrome caused by mutation in Notch1|Adams-Oliver syndrome type 5|NOTCH1 Adams-Oliver syndrome|Adams-Oliver syndrome caused by mutation in NOTCH1|AOS5|Notch1 Adams-Oliver syndrome|Adams-Oliver syndrome 5 OMIM:616028|UMLS:C4014970|Orphanet:974 owl:Class UBERON:0000985 biolink:NamedThing axillary vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011246 biolink:NamedThing megaconial type congenital muscular dystrophy tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, congenital, megaconial type|megaconial congénital muscular dystrophy|megaconial type congenital muscular dystrophy|megaconial congenital muscular dystrophy|muscular dystrophy, congenital, with mitochondrial structural abnormalities|MDCMC|congenital megaconial myopathy|congenital muscular dystrophy with mitochondrial structural abnormalities|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect DOID:0110632|OMIM:602541|ICD10:G71.2|GARD:0010317|UMLS:C1865233|Orphanet:280671|MESH:C566527 https://rarediseases.info.nih.gov/diseases/10317/muscular-dystrophy-congenital-megaconial-type owl:Class MONDO:0014366 biolink:NamedThing spermatogenic failure 14 Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene. tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure type 14|azoospermia caused by mutation in ZMYND15|ZMYND15 azoospermia|SPGF14|spermatogenic failure 14 Orphanet:399805|UMLS:C4014454|DOID:0070179|OMIM:615842 owl:Class HGNC:20997 biolink:NamedThing ZMYND15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0035933 biolink:NamedThing glucocorticoid secretion The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0700069 biolink:NamedThing myopathy caused by variation in POMGNT2 Any myopathy in which the cause of the disease is a variation in the POMGNT2 gene. tmpaxzxjjyw_mondo_relaxed.owl myopathy caused by mutation in POMGNT2|POMGNT2-related myopathy|POMGNT2 myopathy http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:25902 biolink:NamedThing POMGNT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009553 biolink:NamedThing distal segment of pedal digit tmpaxzxjjyw_mondo_relaxed.owl owl:Class N08930dfb086f4865880281e00620a284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N80c46f6842894a4d85bca4b1c40d0455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009073 biolink:NamedThing Ritscher-Schinzel syndrome 1 Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene. tmpaxzxjjyw_mondo_relaxed.owl 3C syndrome|Ritscher-Schinzel syndrome|Ritscher-Schinzel syndrome type 1|Dandy-Walker-like malformation with atrioventricular septal defect|WASHC5 Ritscher-Schinzel syndrome|Ritscher-Schinzel syndrome caused by mutation in WASHC5|Craniocerebellocardiac dysplasia|Ritscher-Schinzel syndrome 1|RTSC|RTSC1 DOID:0060571|UMLS:C0796137|OMIM:220210|Orphanet:7 owl:Class MONDO:0013284 biolink:NamedThing immunodeficiency, common variable, 4 tmpaxzxjjyw_mondo_relaxed.owl antibody deficiency due to Baffr defect|immunodeficiency, common variable, 4|CVID4|immunodeficiency, common variable, type 4 UMLS:C3150739|Orphanet:1572|OMIM:613494 owl:Class CHEBI:25154 biolink:NamedThing manganese molecular entity tmpaxzxjjyw_mondo_relaxed.owl manganese compounds|manganese molecular entity|manganese molecular entities owl:Class CL:0000649 biolink:NamedThing prickle cell A cell with delicate radiating processes known as desmosomes that form intercellular bridges between other cells of this type. This cell type forms the stratum spinosum (prickle cell layer). A function of this cell is to generate keratin. tmpaxzxjjyw_mondo_relaxed.owl prickle cell of epidermis FMA:69059 CL:0002186 cell owl:Class UBERON:0005719 biolink:NamedThing footplate apical ectodermal ridge tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13517 biolink:NamedThing CLIC5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013599 biolink:NamedThing autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency type 31C|CANDF7|immunodeficiency 31C|IMD31C|candidiasis familial, 7|candidiasis familial chronic mucocutaneous, autosomal dominant|familial chronic mucocutaneous, autosomal dominant|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant Orphanet:391487|OMIM:614162|UMLS:C3279990|ICD10:K63.9|GARD:0012314 owl:Class HP:0000926 biolink:NamedThing Platyspondyly A flattened vertebral body shape with reduced distance between the vertebral endplates. tmpaxzxjjyw_mondo_relaxed.owl Flattened vertebrae|Flat vertebral bodies|Flattened vertebral bodies UMLS:C1844704 HP:0008466|HP:0002940|HP:0004595|HP:0003421|HP:0005123|HP:0005644|HP:0004627|HP:0004623 human_phenotype owl:Class MONDO:0008247 biolink:NamedThing robin sequence-oligodactyly syndrome Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986. tmpaxzxjjyw_mondo_relaxed.owl Pierre Robin syndrome and oligodactyly|Pierre Robin sequence-oligodactyly syndrome|Robin sequence and oligodactyly ICD10:Q87.0|OMIM:172880|MESH:C535688|UMLS:C1868309|Orphanet:3104|GARD:0004729 owl:Class NCBITaxon:520 biolink:NamedThing Bordetella pertussis tmpaxzxjjyw_mondo_relaxed.owl Haemophilus pertussis|Hemophilus pertussis|Microbe de la coqueluche|Bacterium tussis-convulsivae GC_ID:11|PMID:8240949 ncbi_taxonomy owl:Class NCBITaxon:644 biolink:NamedThing Aeromonas hydrophila tmpaxzxjjyw_mondo_relaxed.owl Pseudomonas hydrophila|Bacillus hydrophilus fuscus|Aeromonas dourgesi|Proteus ichthyosmius|Bacterium hydrophilum|Proteus hydrophilus|Aeromonas liquefaciens|Bacillus hydrophilus GC_ID:11|PMID:16560691|PMID:19965992|PMID:932684|PMID:23485124 NCBITaxon:582302|NCBITaxon:582219|NCBITaxon:582300|NCBITaxon:582286|NCBITaxon:329140|NCBITaxon:582215|NCBITaxon:582316|NCBITaxon:582236|NCBITaxon:582308|NCBITaxon:582250|NCBITaxon:582324|NCBITaxon:582221|NCBITaxon:582216|NCBITaxon:582287|NCBITaxon:582223|NCBITaxon:582251|NCBITaxon:582318|NCBITaxon:582315|NCBITaxon:582265|NCBITaxon:98358|NCBITaxon:582224|NCBITaxon:582231|NCBITaxon:582310|NCBITaxon:582214|NCBITaxon:582282|NCBITaxon:582304|NCBITaxon:582292|NCBITaxon:582240|NCBITaxon:582311|NCBITaxon:582319|NCBITaxon:1471788|NCBITaxon:346633|NCBITaxon:582196|NCBITaxon:582322|NCBITaxon:582237|NCBITaxon:582279|NCBITaxon:582320|NCBITaxon:346634|NCBITaxon:582198|NCBITaxon:582218|NCBITaxon:1471787|NCBITaxon:582317|NCBITaxon:582267|NCBITaxon:582222|NCBITaxon:582321|NCBITaxon:582253|NCBITaxon:582225|NCBITaxon:582312|NCBITaxon:582217|NCBITaxon:582228|NCBITaxon:582297|NCBITaxon:582305|NCBITaxon:582266|NCBITaxon:582295|NCBITaxon:582307|NCBITaxon:582323|NCBITaxon:582313|NCBITaxon:582289|NCBITaxon:582309|NCBITaxon:582314|NCBITaxon:582306|NCBITaxon:582299|NCBITaxon:582226|NCBITaxon:582254|NCBITaxon:582284|NCBITaxon:582229|NCBITaxon:582220|NCBITaxon:582303|NCBITaxon:582290|NCBITaxon:329135|NCBITaxon:582291 ncbi_taxonomy owl:Class NCBITaxon:633 biolink:NamedThing Yersinia pseudotuberculosis tmpaxzxjjyw_mondo_relaxed.owl Bacillus pseudotuberkulosis|Bacterium pseudotuberculosis|Shigella pseudotuberculosis|Pasteurella lymphangitidis|Pasteurella pseudotuberculosis PMID:2223608|PMID:23919959|GC_ID:11 NCBITaxon:1161941 ncbi_taxonomy owl:Class MONDO:0013237 biolink:NamedThing susceptibility to mononeuropathy of the median nerve, mild tmpaxzxjjyw_mondo_relaxed.owl mononeuropathy of the median nerve, mild|MNMN|carpal tunnel syndrome, susceptibility to OMIM:613353|UMLS:C3150596 owl:Class MONDO:0008823 biolink:NamedThing arthrogryposis multiplex congenita 2, neurogenic type Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy. tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis multiplex congenita neurogenic type|neurogenic type of AMC|arthrogryposis multiplex congenita, neurogenic type|neurogenic arthrogryposis multiplex congenita|AMCN|AMC neurogenic type|AMC, neurogenic type SCTID:715316005|UMLS:C1859721|MESH:C536614|Orphanet:1143|ICD10:Q74.3|OMIM:208100|DOID:0090124|GARD:0000790 owl:Class UBERON:0010362 biolink:NamedThing endoskeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19691 biolink:NamedThing MECR tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:589779 biolink:NamedThing piperidinium The conjugate acid of piperidine; major species at pH 7.3. tmpaxzxjjyw_mondo_relaxed.owl piperidinium|piperidinium(1+)|piperidine|hexahydropyridinium|piperidinium cation owl:Class HP:0001513 biolink:NamedThing Obesity Accumulation of substantial excess body fat. tmpaxzxjjyw_mondo_relaxed.owl Obesity|Having too much body fat MSH:D009765|UMLS:C0028754|SNOMEDCT_US:414916001|SNOMEDCT_US:414915002 human_phenotype owl:Class HGNC:6692 biolink:NamedThing LRP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr14q32.2 biolink:NamedThing 14q32.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 100900000 95800000 hg38 owl:Class CL:0002436 biolink:NamedThing mature CD4 single-positive thymocyte A mature CD4-positive, CD8-negative alpha-beta T cell found in the thymus that is CD24-low and has high expression of the T cell receptor. tmpaxzxjjyw_mondo_relaxed.owl T.4SP24-.Th tmeehan 2010-10-21T03:31:19Z cell owl:Class GO:0003867 biolink:NamedThing 4-aminobutyrate transaminase activity Catalysis of the reaction: 4-aminobutanoate + amino group acceptor = succinate semialdehyde + amino acid. tmpaxzxjjyw_mondo_relaxed.owl glutamate-succinic semialdehyde transaminase activity|4-aminobutyrate aminotransferase activity|gamma-aminobutyrate transaminase activity|gamma-aminobutyric transaminase activity|GABA transaminase activity|gamma-aminobutyric acid transaminase activity|GABA aminotransferase activity|aminobutyrate aminotransferase activity|gamma-aminobutyric acid aminotransferase activity|GABA transferase activity|beta-alanine aminotransferase|gamma-aminobutyrate aminotransaminase activity|4-aminobutyric acid aminotransferase activity|4-aminobutanoate transaminase activity|aminobutyrate transaminase activity|gamma-amino-N-butyrate transaminase activity owl:Class N89304a3dfe1a4f60a38dcf7208974302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HsapDv:0000080 biolink:NamedThing immature stage Human developmental stage that covers the period from birth until 12 years old. tmpaxzxjjyw_mondo_relaxed.owl 0-12 years|child owl:Class MONDO:0013736 biolink:NamedThing myopathy, centronuclear, 3 Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene. tmpaxzxjjyw_mondo_relaxed.owl myopathy, centronuclear, 3|autosomal dominant centronuclear myopathy caused by mutation in MYF6|myopathy, centronuclear, type 3|CNM3|MYF6 autosomal dominant centronuclear myopathy UMLS:C3280703|OMIM:614408|Orphanet:169189 owl:Class GO:0140513 biolink:NamedThing nuclear protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together in the nucleus. tmpaxzxjjyw_mondo_relaxed.owl nuclear complex owl:Class MONDO:0014132 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 3 Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene. tmpaxzxjjyw_mondo_relaxed.owl MMDS3|multiple mitochondrial dysfunctions syndrome type 3|multiple mitochondrial dysfunctions syndrome 3|fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57|IBA57 deficiency|IBA57 fatal multiple mitochondrial dysfunctions syndrome OMIM:615330|ICD10:G31.8|UMLS:C3809165|Orphanet:289573|DOID:0080135|Orphanet:363424 owl:Class MONDO:0007410 biolink:NamedThing isolated cryptophthalmia Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl cryptophthalmos with microphthalmia and Peters anomaly|nonsyndromic cryptophthalmia|ankyloblepharon, simple|cryptophthalmos, unilateral or bilateral, isolated MESH:C565138|UMLS:C1852453|SCTID:718691008|DOID:0111717|ICD10:Q11.2|Orphanet:91396|OMIM:123570 owl:Class MONDO:0005960 biolink:NamedThing silicosis Silicosis is a respiratory disease caused by breathing in (inhaling) silica dust. There are three types of silicosis: Simple chronic silicosis, the most common type of silicosis, results from long-term exposure (usually more than 20years) to low amounts of silica dust. Simple chronic silicosismay causepeople to have difficulty breathing. Accelerated silicosis occurs after 5 to 15 yearsof exposure of higher levels of silica.Swelling of the lungsand other symptoms occur faster in this type of silicosis than in the simple chronic form. Acute silicosis results from short-term exposure (weeks or months) of large amounts of silica.The lungs become very inflamed and can fill with fluid, causing severe shortness of breath and low blood oxygen levels. A cough, weight loss, and fatigue may also be present. Acute silicosis progresses rapidly and can be fatal within months. People who work in jobs where they are exposed to silica dust (mining, quarrying, construction, sand blasting, stone cutting) are at risk of developing this condition. tmpaxzxjjyw_mondo_relaxed.owl silicotic fibrosis of lung|silicatosis|experimental silicosis|acute silicosis|silicotuberculosis|silicosis|pneumoconiosis due to silica|silica pneumoconiosis|pneumoconiosis caused by silica|nodular silicosis|chronic silicosis|pneumoconiosis due to silicates|accelerated silicosis DOID:10325|ICD9:502|ICD10:J62|NCIT:C3369|EFO:0007485|UMLS:C0037116|SCTID:805002|GARD:0007647|MESH:D012829|ICD10:J62.8 https://rarediseases.info.nih.gov/diseases/7647/silicosis owl:Class ENVO:01001282 biolink:NamedThing silica dust Dust which is composed primarily of slicon dioxide. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010923 biolink:NamedThing proximal myopathy with focal depletion of mitochondria tmpaxzxjjyw_mondo_relaxed.owl proximal myopathy with focal depletion of mitochondria OMIM:600706|Orphanet:521305|MESH:C563453|UMLS:C1833453 owl:Class HGNC:1390 biolink:NamedThing CACNA1C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002876 biolink:NamedThing cervical adenosarcoma A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements. tmpaxzxjjyw_mondo_relaxed.owl adenosarcoma of the cervix uteri|cervical Mullerian adenosarcoma|cervical Müllerian adenosarcoma|cervical Muellerian adenosarcoma|cervical adenosarcoma|uterine cervix adenosarcoma|adenosarcoma of uterine cervix ICD10:C53.8|ICD10:C53.0|DOID:4111|UMLS:CN201069|Orphanet:213792|UMLS:C1516426|NCIT:C40229|ICD10:C53.1|SCTID:764847000 owl:Class OBO:CHR_9606-chr2p21 biolink:NamedThing 2p21 (Human) tmpaxzxjjyw_mondo_relaxed.owl 47500000 41500000 hg38 owl:Class ENVO:01001192 biolink:NamedThing sediment surface The surface layer of a mass of sediment. tmpaxzxjjyw_mondo_relaxed.owl surface sediment|surface of a sedimentary mass owl:Class UBERON:0015418 biolink:NamedThing urethra mesenchymal layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C37123 biolink:NamedThing Neoplastic Spindle-Shaped to Round Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003216 biolink:NamedThing ureter adenocarcinoma A carcinoma that arises from glandular epithelial cells of the ureter tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of the ureter|ureteral adenocarcinoma|ureter adenocarcinoma|adenocarcinoma of ureter DOID:4938|UMLS:C1336873|NCIT:C6155 owl:Class UBERON:0010081 biolink:NamedThing future common hepatic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2577 biolink:NamedThing CYBA tmpaxzxjjyw_mondo_relaxed.owl owl:Class ExO:0000000 biolink:NamedThing exposure stressor An agent, stimulus, activity, or event that causes stress or tension on an organism and interacts with an exposure_receptor during an exposure event. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:809 biolink:NamedThing Chlamydiaceae tmpaxzxjjyw_mondo_relaxed.owl PMID:10319462|PMID:11211261|PMID:25618261|PMID:11211265|PMID:10319506|GC_ID:11 ncbi_taxonomy owl:Class N56183b5e800a44f4a6ccec339c6e7220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:CHR_9606-chr20q13.2-q13.3 biolink:NamedThing 20q13.2-q13.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0700130 biolink:NamedThing partial Trisomy 21 A chromosomal disorder consisting of the partial duplication of chromosome 21. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0016510 biolink:NamedThing epibulbar lipodermoid-preauricular appendage-polythelia syndrome Epibulbar lipodermoid B preauricular appendages B polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:231742|UMLS:CN226948 owl:Class ENVO:01001526 biolink:NamedThing frozen soil Soil which is below the freezing point of water. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009060 biolink:NamedThing aerobic respiration The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001160 biolink:NamedThing fundus of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012387 biolink:NamedThing osteosclerosis-ichthyosis-premature ovarian failure syndrome This syndrome is characterised by sclerosing bone dysplasia, ichthyosis vulgaris and premature ovarian failure. The bone disorder affects all metaphyseal-diaphyseal regions of the long bones, the skull, and the metacarpals. tmpaxzxjjyw_mondo_relaxed.owl osteosclerosis with ichthyosis and POF|osteosclerosis with ichthyosis and premature ovarian failure|sclerosing dysplasia of bone with ichthyosis and premature ovarian failure|sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome MESH:C536064|SCTID:722114007|OMIM:609993|Orphanet:75325|GARD:0009904 owl:Class MONDO:0013525 biolink:NamedThing primary ciliary dyskinesia 16 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAL1 gene. tmpaxzxjjyw_mondo_relaxed.owl CILD16|primary ciliary dyskinesia type 16|ciliary dyskinesia, primary, 16|DNAL1 primary ciliary dyskinesia|ciliary dyskinesia, primary, 16, with or without situs inversus|primary ciliary dyskinesia caused by mutation in DNAL1|primary ciliary dyskinesia 16 with or without situs inversus|ciliary dyskinesia, primary, type 16 OMIM:614017|DOID:0110613|UMLS:C3151460|ICD10:Q34.8 owl:Class CL:0002599 biolink:NamedThing smooth muscle cell of the esophagus A smooth muscle cell of the esophagus. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T05:48:17Z cell owl:Class Nd112424a04ea4f268fef805b1d8e6f35 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018521 biolink:NamedThing squamous cell carcinoma of pancreas A squamous cell carcinoma that involves the pancreas. tmpaxzxjjyw_mondo_relaxed.owl pancreas squamous cell carcinoma|pancreatic squamous cell carcinoma|squamous cell carcinoma of the pancreas ICD10:C25.2|DOID:0080323|ICD10:C25.1|ICD10:C25.7|UMLS:CN237524|ICD10:C25.0|UMLS:C2675993|Orphanet:424039|ICD10:C25.8 owl:Class MONDO:0013571 biolink:NamedThing acatalasia A congenital disorder resulting from a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. tmpaxzxjjyw_mondo_relaxed.owl acatalasemia|catalase deficiency|acatalasia|deficiency of catalase ICD9:277.6|UMLS:C0268419|OMIM:614097|EFO:0004144|HGNC:1516|DOID:2582|NCIT:C84526|MESH:D020642|SCTID:124202004|GARD:0000363|ICD10:E80.3|Orphanet:926 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:1516 biolink:NamedThing CAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3005 biolink:NamedThing DPM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013515 biolink:NamedThing osteogenesis imperfecta type 6 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINF1 gene. tmpaxzxjjyw_mondo_relaxed.owl OI type 6|OI type VI|SERPINF1 osteogenesis imperfecta|osteogenesis imperfecta caused by mutation in SERPINF1|SERPINFI- related osteogenesis imperfecta|osteogenesis imperfecta, type 6|osteogenesis imperfecta type|osteogenesis imperfecta, type VI|OI6|osteogenesis imperfecta type VI UMLS:C3279564|OMIM:613982|GARD:0008700|Orphanet:216812|DOID:0110350|ICD10:Q78.0|MESH:C536047|Orphanet:216820 owl:Class HGNC:8824 biolink:NamedThing SERPINF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007389 biolink:NamedThing spondylocostal dysostosis 5 Any spondylocostal dysostosis in which the cause of the disease is a mutation in the TBX6 gene. tmpaxzxjjyw_mondo_relaxed.owl SCDO5|spondylocostal dysplasia|costovertebral segmentation anomalies|scoliosis, congenital, with or without rib anomalies|spondylothoracic dysostosis|spondylocostal dysostosis 5|polydysspondyly|TBX6 spondylocostal dysostosis|spondylocostal dysostosis type 5|spondylocostal dysostosis caused by mutation in TBX6 UMLS:C4083048|GARD:0012806|OMIM:122600|Orphanet:1797 May be AD or AR owl:Class HGNC:11605 biolink:NamedThing TBX6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002209 biolink:NamedThing heel spur A bony outgrowth on the lower surface of the calcaneus. Though often presenting along with plantar fasciitis (fasciitis, plantar), they are not considered causally related. tmpaxzxjjyw_mondo_relaxed.owl calcaneus exostosis|calcaneal spur UMLS:C0158322|DOID:210|ICD10:M77.30|ICD9:726.73|SCTID:55260003|ICD10:M77.3|MESH:D036982 owl:Class OBO:MFOMD_0000001 biolink:NamedThing mental disease A disease which is a disposition to undergo pathological mental processes. tmpaxzxjjyw_mondo_relaxed.owl mental health condition The Mental Disease ontology follows the strategy of the Ontology of General Medical Science in distinguishing mental disease, mental disorder, diagnosis of mental disease, mental disease course and pathological mental process as separately distinguishable entities. Here is a quick guide to how these terms are used in this ontology. A mental disease is an underlying disposition to pathological mental processes. A mental disease course is the sum of the pathological mental processes that are caused by the underlying disease. A pathological mental process is a pathological process caused by a mental disease. A mental disorder is a physical disorder, for example, dysfunctional neurotransmitter receptors, altered brain connectivity, missing or damaged brain parts etc. The disorder is the material basis for the disease and it is by virtue of the disorder that the disease causes the pathological processes that form part of the disease course. A diagnosis of a mental disease is a clinician's statement that a patient has a mental disease by virtue of observable manifestations of that disease, such as behaviour, observable aspects of the underlying disorder, or self-reported experiences. http://www.jbiomedsem.com/content/1/1/10 owl:Class MONDO:0007841 biolink:NamedThing coxopodopatellar syndrome Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis. tmpaxzxjjyw_mondo_relaxed.owl SPS|patella aplasia, coxa vara, tarsal synostosis|ICPPS|ischiopatellar dysplasia|congenital coxa vara, patella aplasia and tarsal synostosis|small patella syndrome|ischiocoxopodopatellar syndrome|Scott-Taor syndrome|coxopodopatellar syndrome|Coxo-podo-patellar syndrome MESH:C535540|OMIM:147891|Orphanet:1509|UMLS:C1840061|ICD10:Q74.1|SCTID:720752007|DOID:0111382|GARD:0003030 owl:Class HGNC:2859 biolink:NamedThing DHCR24 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011706 biolink:NamedThing Kufor-Rakeb syndrome Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. tmpaxzxjjyw_mondo_relaxed.owl Parkinson disease 9, autosomal recessive, juvenile-onset|KRPPD|KRS|Pallidopyramidal degeneration with supranuclear upgaze paresis, and dementia|Parkinson disease 9, autosomal recessive|autosomal recessive juvenile onset Parkinson disease 9|autosomal recessive Parkinson disease 9|park 9|Pallidopyramidal Degeneration with supranuclear upgaze paresis and dementia|Kufor-Rakeb syndrome|ceroid lipofuscinosis, neuronal, 12|Parkinson disease type 9|PARK9 Orphanet:314632|MESH:C537177|OMIM:606693|ICD10:G23.0|GARD:0009174|Orphanet:306674|DOID:0060556 owl:Class HGNC:30213 biolink:NamedThing ATP13A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014941 biolink:NamedThing arthrogryposis, distal, with impaired proprioception and touch tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis, distal, with impaired proprioception and touch; DAIPT|arthrogryposis, distal, with impaired proprioception and touch|DAIPT OMIM:617146|UMLS:C4310692 owl:Class HGNC:592 biolink:NamedThing XIAP tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:9000156 biolink:NamedThing exposure to water An exposure to water. tmpaxzxjjyw_mondo_relaxed.owl exposure to water owl:Class MONDO:0011020 biolink:NamedThing osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome is characterised by osteoporosis and congenital oculocutaneous hypopigmentation. Three cases have been described in the literature. The mode of inheritance appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Hernández-Fragoso syndrome|OOCHS|OOCH syndrome|OOCH|osteoporosis oculocutaneous hypopigmentation syndrome|osteoporosis and oculocutaneous hypopigmentation syndrome GARD:0000404|OMIM:601220|MESH:C536062|UMLS:C1832592|Orphanet:2786|SCTID:722113001 https://rarediseases.info.nih.gov/diseases/404/osteoporosis-oculocutaneous-hypopigmentation-syndrome owl:Class MONDO:0024644 biolink:NamedThing myocardial ischemia A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (coronary artery disease), to obstruction by a thrombus (coronary thrombosis), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (myocardial infarction). tmpaxzxjjyw_mondo_relaxed.owl ischemia, myocardial|ischemic disease of myocardium|myocardium ischemic disease|heart disease, ischemic|diseases, ischemic heart|disease, ischemic heart|ischemic heart diseases|myocardial Ischemias|heart diseases, ischemic|IHD|ischemic heart disease|ischemias, myocardial MESH:D017202|SCTID:414545008|NCIT:C50625|UMLS:C0151744|ICD10:I20.I25|EFO:1001375 owl:Class OBO:MF_0000031 biolink:NamedThing cognitive representation A representation which specifically depends on an anatomical structure in the cognitive system of an organism. tmpaxzxjjyw_mondo_relaxed.owl http://www.jbiomedsem.com/content/1/1/10 owl:Class UBERON:0017751 biolink:NamedThing proximal mesopodial cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009703 biolink:NamedThing myopathy with abnormal lipid metabolism tmpaxzxjjyw_mondo_relaxed.owl LIPID storage myopathy due to flavin adenine dinucleotide synthetase deficiency|myopathy with abnormal lipid metabolism|LSMFLAD|lipid storage myopathy|lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency UMLS:C0410214|OMIM:255100 owl:Class MONDO:0011242 biolink:NamedThing Bartter disease type 4a Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene. tmpaxzxjjyw_mondo_relaxed.owl Bartter syndrome, neonatal, with sensorineural deafness|Bartter syndrome, infantile, with sensorineural deafness|Bartter syndrome type 4a|BARTS4A|Bartter disease type 4a|Bartter syndrome caused by mutation in BSND|BSND|BSND Bartter syndrome|Bartter syndrome, type 4A|neonatal Bartter syndrome with sensorineural deafness|Bartter syndrome, type 4A, neonatal, with sensorineural deafness|sensorineural deafness with mild renal dysfunction UMLS:C1865270|DOID:0110145|Orphanet:89938|SCTID:717791000|Orphanet:112|OMIM:602522|ICD10:E26.8 owl:Class UBERON:0004008 biolink:NamedThing cerebellar plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022812 biolink:NamedThing complement receptor deficiency A disorder with basis in disruption of a complement receptor. tmpaxzxjjyw_mondo_relaxed.owl complement receptor deficiency GARD:0009527|SCTID:234628004|ICD9:279.8|UMLS:C0398783 https://rarediseases.info.nih.gov/diseases/9527/complement-receptor-deficiency owl:Class GO:0004875 biolink:NamedThing complement receptor activity Combining with any component or product of the complement cascade and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. tmpaxzxjjyw_mondo_relaxed.owl anaphylatoxin receptor activity owl:Class GO:0008240 biolink:NamedThing tripeptidyl-peptidase activity Catalysis of the release of an N-terminal tripeptide from a polypeptide. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11367 biolink:NamedThing STAT5B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013543 biolink:NamedThing trypsinogen deficiency tmpaxzxjjyw_mondo_relaxed.owl trypsinogen deficiency UMLS:C0268417|ICD9:277.89|OMIM:614044|SCTID:190953007 owl:Class HP:0002202 biolink:NamedThing Pleural effusion The presence of an excessive amount of fluid in the pleural cavity. tmpaxzxjjyw_mondo_relaxed.owl Fluid around lungs MSH:D010996|SNOMEDCT_US:60046008|UMLS:C0032227 human_phenotype owl:Class MONDO:0040871 biolink:NamedThing psychogenic polydipsia A form of primary polydipsia caused by underlying psychiatric symptoms, including those caused by psychoses and rarely by affective disorders. tmpaxzxjjyw_mondo_relaxed.owl psychogenic polydipsia SCTID:15945005 owl:Class MONDO:0019365 biolink:NamedThing scrub typhus Scrub typhus is a rare dust mite-borne infectious disease caused by the Orientia tsutsugamushi bacterium and characterized clinically by an eruptive fever which is potentially serious. tmpaxzxjjyw_mondo_relaxed.owl Kedani fever|chigger-borne rickettsiosis|typhus fever due to Rickettsia tsutsugamushi|scrub (mite-borne) typhus|tsutsugamushi disease|tropical typhus|Mite-borne typhus|chigger-borne typhus|Mite-borne rickettsiosis|tsutsugamushi|tsutsugamushi fever|Japanese river fever|scrub mite-borne typhus ICD9:081.2|DOID:13371|Orphanet:83317|ICD10:A75.3|MedDRA:10039766|SCTID:271425001|MESH:D012612|UMLS:C0036472|EFO:0007480 owl:Class HGNC:17104 biolink:NamedThing CDON tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001234 biolink:NamedThing left adrenal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060037 biolink:NamedThing pharyngeal system development The process whose specific outcome is the progression of the pharyngeal system over time, from its formation to the mature structure. The pharyngeal system is a transient embryonic complex that is specific to vertebrates. It comprises the pharyngeal arches, bulges of tissues of mesoderm and neural crest derivation through which pass nerves and pharyngeal arch arteries. The arches are separated internally by pharyngeal pouches, evaginations of foregut endoderm, and externally by pharyngeal clefts, invaginations of surface ectoderm. The development of the system ends when the stucture it contributes to are forming: the thymus, thyroid, parathyroids, maxilla, mandible, aortic arch, cardiac outflow tract, external and middle ear. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014910 biolink:NamedThing primary ciliary dyskinesia 35 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the TTC25 gene. tmpaxzxjjyw_mondo_relaxed.owl CILD35|primary ciliary dyskinesia caused by mutation in TTC25|primary ciliary dyskinesia 35 with or without situs inversus|TTC25 primary ciliary dyskinesia|ciliary dyskinesia, primary, 35, with or without situs inversus|primary ciliary dyskinesia type 35|ciliary dyskinesia, primary, 35|ciliary dyskinesia, primary, type 35 DOID:0110620|OMIM:617092|UMLS:C4310721 owl:Class HGNC:25280 biolink:NamedThing ODAD4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6664 biolink:NamedThing LOX tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015024 biolink:NamedThing ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene. tmpaxzxjjyw_mondo_relaxed.owl ECTD12|ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type|ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12|KDF1 ectodermal dysplasia syndrome|ectodermal dysplasia syndrome caused by mutation in KDF1 UMLS:C4310616|OMIM:617337|DOID:0111652 owl:Class CL:0000570 biolink:NamedThing parafollicular cell A neuroepithelial cells that occurs singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid. Expresses a form of the neural cell adhesion molecule (N-CAM) on their surface. Secretes calcitonin, 5-hydroxytryptamine and dopamine. tmpaxzxjjyw_mondo_relaxed.owl C cell|thyroid parafollicular cell|C cell of thyroid gland|clear cell of thyroid gland|parafollicular cell of thyroid gland SCTID:176770005|FMA:68653 cell owl:Class MONDO:0014216 biolink:NamedThing primary ciliary dyskinesia 28 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the SPAG1 gene. tmpaxzxjjyw_mondo_relaxed.owl CILD28|ciliary dyskinesia, primary, type 28|SPAG1 primary ciliary dyskinesia|ciliary dyskinesia, primary, 28|primary ciliary dyskinesia 28 with or without situs inversus|primary ciliary dyskinesia type 28|ciliary dyskinesia, primary, 28, with or without situs inversus|primary ciliary dyskinesia caused by mutation in SPAG1 DOID:0110607|OMIM:615505|ICD10:Q34.8|UMLS:C3809706 owl:Class HGNC:11212 biolink:NamedThing SPAG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr5q2 biolink:NamedThing 5q2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 131200000 98900000 hg38 owl:Class GO:0046660 biolink:NamedThing female sex differentiation The establishment of the sex of a female organism by physical differentiation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010317 biolink:NamedThing intellectual disability, X-linked, with or without seizures, arx-related tmpaxzxjjyw_mondo_relaxed.owl ARX-related intellectual disability|mental retardation, X-linked 33|intellectual disability, X-linked 29|mental retardation, X-linked 76|intellectual disability, X-linked 33|MRXARX|mental retardation, X-linked 52|intellectual disability, X-linked 38|intellectual disability, X-linked 52|mental retardation, X-linked 38|mental retardation, X-linked 54|mental retardation, X-linked, with or without seizures, arx-related|intellectual disability, X-linked, with or without seizures, ARX-related|mental retardation, X-linked, with or without seizures, arx-RELATED|mental retardation, X-linked 32|intellectual disability, X-linked 32|intellectual disability, X-linked 43|intellectual disability, X-linked 54|mental retardation, X-linked 43|intellectual disability, X-linked 87|mental retardation, X-linked 87|MRX52|intellectual disability, X-linked 76|intellectual disability, X-linked, with or without seizures, arx-RELATED|mental retardation, X-linked 29 UMLS:C0796244|MESH:C563150|GARD:0005614|Orphanet:777|OMIM:300419|UMLS:C1845298|MESH:C564502 owl:Class MONDO:0011177 biolink:NamedThing ectodermal dysplasia 4, hair/nail type Any pure hair and nail ectodermal dysplasia in which the cause of the disease is a mutation in the KRT85 gene. tmpaxzxjjyw_mondo_relaxed.owl ECTD4|KRT85 pure hair and nail ectodermal dysplasia|pure hair and nail ectodermal dysplasia caused by mutation in KRT85|pili torti onychodysplasia|ectodermal dysplasia, 'Pure' hair/nail type|twisted hair with nail dysplasias|ectodermal dysplasia 4, hair/nail type MESH:C566592|DOID:0111658|UMLS:C2931483|OMIM:602032|GARD:0004364|Orphanet:69084 owl:Class HGNC:6462 biolink:NamedThing KRT85 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002334 biolink:NamedThing submandibular duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018913 biolink:NamedThing malakoplakia Malakoplakia is a chronic multisystem granulomatous inflammatory disease characterized by the presence of single or multiple soft plaques on various organs of the body. tmpaxzxjjyw_mondo_relaxed.owl malacoplakia Orphanet:556|NCIT:C84833|MESH:D008287|GARD:0006960|EFO:1001807|SCTID:716766007 https://rarediseases.info.nih.gov/diseases/6960/malakoplakia owl:Class HGNC:14312 biolink:NamedThing CRIPT tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:4200230 biolink:NamedThing surface of bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024287 biolink:NamedThing congenital vascular malformation A congenital abnormality of the arteries and veins, lymph vessels or veins and lymph vessels. tmpaxzxjjyw_mondo_relaxed.owl vascular malformation|congenital vascular malformation NCIT:C112117 owl:Class MONDO:0014428 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 102 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 102|DFNB102|autosomal recessive nonsyndromic deafness 102|autosomal recessive nonsyndromic deafness caused by mutation in EPS8|autosomal recessive deafness 102|deafness, autosomal recessive type 102|EPS8 autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 102 ICD10:H90.3|UMLS:C3892050|DOID:0110463|OMIM:615974 owl:Class HGNC:3420 biolink:NamedThing EPS8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00003318 biolink:NamedThing echinoderm food product tmpaxzxjjyw_mondo_relaxed.owl 2020-01-08 00:20:27+00:00 owl:Class UBERON:0000454 biolink:NamedThing cerebral subcortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:64320 biolink:NamedThing Zika virus tmpaxzxjjyw_mondo_relaxed.owl ZIKV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014993 biolink:NamedThing myofibrillar myopathy 8 Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene. tmpaxzxjjyw_mondo_relaxed.owl myofibrillar myopathy (disease) caused by mutation in PYROXD1|PYROXD1 myofibrillar myopathy (disease)|myofibrillar myopathy 8|myopathy, myofibrillar, 8|myopathy, myofibrillar, type 8|MFM8 DOID:0080308|OMIM:617258|UMLS:C4310645 owl:Class HGNC:329 biolink:NamedThing AGRN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012892 biolink:NamedThing bone fragility with contractures, arterial rupture, and deafness A rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features. tmpaxzxjjyw_mondo_relaxed.owl connective tissue disorder due to LH3 deficiency|lysyl Hydroxylase 3 deficiency|connective tissue disorder due to lysyl hydroxylase-3 deficiency|bone fragility-contractures-arterial rupture-deafness syndrome|bone fragility with contractures, arterial rupture, and deafness|LH3 deficiency SCTID:763318007|Orphanet:300284|OMIM:612394|MESH:C567320|UMLS:C2676285 owl:Class HGNC:9083 biolink:NamedThing PLOD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001955 biolink:NamedThing epithelium of respiratory bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012338 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, 4|epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10|EIG4 DOID:0111319|OMIM:609750 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0008925 biolink:NamedThing cataract 46 juvenile-onset Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LEMD2 gene. tmpaxzxjjyw_mondo_relaxed.owl LEMD2 early-onset non-syndromic cataract|cataract 46, juvenile-onset|juvenilae cataract Hutterite type|early-onset non-syndromic cataract caused by mutation in LEMD2|cataract, juvenile, Hutterite type|cataract, congenital or juvenile|cataract Hutterite type|CTRCT46 MESH:C538286|DOID:0110243|Orphanet:98987|GARD:0001150|Orphanet:91492|ICD10:Q12.0|OMIM:212500 Not in the OMIM series. https://rarediseases.info.nih.gov/diseases/1150/cataract-hutterite-type owl:Class N47a21da78acf44999d4c2769ffd00e5e biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0012900 biolink:NamedThing cardiomyopathy, familial restrictive, 3 Any familial isolated restrictive cardiomyopathy in which the cause of the disease is a mutation in the TNNT2 gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, familial restrictive, 3|RCM3|cardiomyopathy, familial restrictive, type 3|familial isolated restrictive cardiomyopathy caused by mutation in TNNT2|TNNT2 familial isolated restrictive cardiomyopathy UMLS:C2676271|MESH:C567316|Orphanet:75249|DOID:0111427|OMIM:612422 owl:Class MONDO:0013351 biolink:NamedThing infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination. tmpaxzxjjyw_mondo_relaxed.owl microcephaly, postnatal progressive, with seizures and brain atrophy|postnatal progressive microcephaly, seizures, and brain atrophy DOID:0111262|UMLS:C3150921|OMIM:613668|ICD10:Q04.3|Orphanet:402364|GARD:0010995 owl:Class HGNC:2375 biolink:NamedThing MED17 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005214 biolink:NamedThing inner renal medulla interstitium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060082 biolink:NamedThing eye blink reflex The reflex process in which a mechanical stimulus applied to the eye elicits a response of the eyelid closing. tmpaxzxjjyw_mondo_relaxed.owl nictitating membrane reflex owl:Class MONDO:0021543 biolink:NamedThing hemangioma of gingiva A hemangioma that involves the gingiva. tmpaxzxjjyw_mondo_relaxed.owl gingival angioma|gingiva hemangioma|gingival hemangioma|hemangioma of gum|gum hemangioma|angioma of the gum|hemangioma of the gingiva|hemangioma of the gum|angioma of gum|angioma of gingiva|gum angioma|angioma of the gingiva NCIT:C4831|SCTID:304990002|UMLS:C0582885|ICD9:228.09 owl:Class UBERON:0009538 biolink:NamedThing mesenchyme of sublingual gland primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006297 biolink:NamedThing sublingual gland primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2379 biolink:NamedThing CRTAP tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:24488 biolink:NamedThing POC1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005294 biolink:NamedThing gonadal ridge tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8983 biolink:NamedThing PI4KA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014429 biolink:NamedThing autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency A genetic variant of Mendelian susceptibility to mycobacterial disease characterized by a partial deficiency leading to impaired IFN-gamma immunity and, consequently, recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). tmpaxzxjjyw_mondo_relaxed.owl IFNGR1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1|autosomal dominant MSMD due to partial IFNgammaR1 deficiency|immunodeficiency 27B|IMD27B|immunodeficiency 27B, Mycobacteriosis, autosomal dominant|IFNGR1 deficiency, autosomal dominant|autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency|immunodeficiency type 27B|autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency OMIM:615978|ICD10:D84.8|UMLS:C4014863|Orphanet:319581 owl:Class MONDO:0014222 biolink:NamedThing immunodeficiency 14 tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 14|IMD14|p110-Delta-Activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency|immunodeficiency type 14|Activated PI3K-Delta syndrome OMIM:615513|Orphanet:397596|UMLS:C3714976 owl:Class HGNC:8977 biolink:NamedThing PIK3CD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005704 biolink:NamedThing Ciliophora infectious disease Infections with protozoa of the phylum ciliophora. tmpaxzxjjyw_mondo_relaxed.owl Ciliophora caused disease or disorder|Ciliophora disease or disorder EFO:0007209|UMLS:C0085308|MESH:D016770 owl:Class MONDO:0013663 biolink:NamedThing platelet-activating factor acetylhydrolase deficiency tmpaxzxjjyw_mondo_relaxed.owl PAFAD|platelet-activating factor acetylhydrolase deficiency|platelet-activating factor acetylhydrolase deficiency (disease) platelet-activating factor acetylhydrolase deficiency (disease) HP:0040175|MESH:C566640|UMLS:C3280315|OMIM:614278 owl:Class HGNC:9040 biolink:NamedThing PLA2G7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014999 biolink:NamedThing tooth agenesis, selective, 9 Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene. tmpaxzxjjyw_mondo_relaxed.owl tooth agenesis, selective, type 9|tooth agenesis, selective, 9; STHAG9|GREM2 tooth agenesis|tooth agenesis, selective, 9|STHAG9|tooth agenesis caused by mutation in GREM2 OMIM:617275 owl:Class HGNC:17655 biolink:NamedThing GREM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003112 biolink:NamedThing olfactory region tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0034757 biolink:NamedThing negative regulation of iron ion transport Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of iron ion transport|down regulation of iron ion transport|inhibition of iron ion transport|downregulation of iron ion transport|negative regulation of iron transport owl:Class MONDO:0005729 biolink:NamedThing dicrocoeliasis Infection with flukes of the genus Dicrocoelium. tmpaxzxjjyw_mondo_relaxed.owl Dicrocoelium infectious disease|disease due to Dicrocoeliidae|Dicrocoelium caused disease or disorder|Dicrocoelium disease or disorder EFO:0007234|MESH:D004011|SCTID:105668007|DOID:1219|UMLS:C0012102|UMLS:C1737210|ICD9:121.8|ICD10:B66.2 owl:Class NCBITaxon:57077 biolink:NamedThing Dicrocoelium tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001709 biolink:NamedThing hypercalcemic sarcoidosis Sarcoidosis with a complication of hypercalcemia. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35807|UMLS:C1334067|DOID:13407 owl:Class HP:0003072 biolink:NamedThing Hypercalcemia An abnormally increased calcium concentration in the blood. tmpaxzxjjyw_mondo_relaxed.owl Hypercalcaemia|High blood calcium levels|Increased calcium in blood SNOMEDCT_US:166702002|SNOMEDCT_US:66931009|UMLS:C0020437|MSH:D006934 human_phenotype owl:Class HGNC:16068 biolink:NamedThing PCNT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013490 biolink:NamedThing megalencephalic leukoencephalopathy with subcortical cysts 2A tmpaxzxjjyw_mondo_relaxed.owl megalencephalic leukoencephalopathy with subcortical cysts type 2A|MLC2A|megalencephalic leukoencephalopathy with subcortical cysts 2A OMIM:613925|Orphanet:2478|UMLS:C3151355|DOID:0080318 owl:Class HGNC:26361 biolink:NamedThing HEPACAM tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18621 biolink:NamedThing COG6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000996 biolink:NamedThing prostate lymphoma A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of prostate|prostate gland lymphoma|primary prostate lymphoma|lymphoma of prostate gland|lymphoma of the prostate|prostate lymphoma NCIT:C5533|DOID:10290|UMLS:C1335512 owl:Class UBERON:0001261 biolink:NamedThing lamina propria of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003438 biolink:NamedThing iris nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003326 biolink:NamedThing mesenchyme of mammary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000373 biolink:NamedThing gall bladder carcinoma in situ A carcinoma in situ involving a gall bladder. tmpaxzxjjyw_mondo_relaxed.owl carcinoma in situ of gall bladder|gall bladder in situ carcinoma|stage 0 gall bladder carcinoma DOID:0050612 owl:Class HGNC:12926 biolink:NamedThing ZNF141 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008560 biolink:NamedThing thrombophilia due to activated protein C resistance A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance. tmpaxzxjjyw_mondo_relaxed.owl APC resistance|Pccf deficiency|thrombophilia due to ACTIVATED PROTEIN C resistance|Proc cofactor deficiency|thrombophilia due to activated protein C resistance|thrombophilia due to deficiency of Activated Protein C cofactor|thrombophilia due to Factor 5 Leiden|resistance, APC|Activated Protein C resistance|thrombophilia 5|THPH2 ICD9:289.81|OMIM:188055|UMLS:C1861171|SCTID:421527008|MESH:D020016 owl:Class HGNC:3542 biolink:NamedThing F5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014499 biolink:NamedThing intellectual disability, autosomal recessive 46 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene. tmpaxzxjjyw_mondo_relaxed.owl NDST1 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive type 46|mental retardation, autosomal recessive 46|intellectual disability, autosomal recessive 46|intellectual disability, autosomal recessive type 46|autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1|MRT46 UMLS:C4015283|OMIM:616116 owl:Class HGNC:7680 biolink:NamedThing NDST1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003119 biolink:NamedThing pharyngeal arch artery 2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012970 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 6 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene. tmpaxzxjjyw_mondo_relaxed.owl SOD2 microvascular complications of diabetes, susceptibility|microvascular complications of diabetes, susceptibility to, 6|MVCD6|microvascular complications of diabetes, susceptibility caused by mutation in SOD2|nephropathy, diabetic, susceptibility to|microvascular complications of diabetes, susceptibility to, type 6 OMIM:612634 owl:Class MONDO:0009275 biolink:NamedThing neonatal hemochromatosis Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 tmpaxzxjjyw_mondo_relaxed.owl neonatal hepatitis (formerly)|Nh|Nhc|hemochromatosis, neonatal|giant cell Hepatitis|giant cell Hepatitis, formerly|alloimmune Hepatitis, congenital|neonatal Hepatitis|neonatal Hepatitis, formerly|giant cell Hepatitis (formerly)|idiopathic neonatal hemochromatosis|hemochromatosis neonatal GARD:0007172|NCIT:C129980|MESH:C536394|UMLS:C0268059|Orphanet:446|OMIM:231100|ICD10:E83.1 https://rarediseases.info.nih.gov/diseases/7172/neonatal-hemochromatosis owl:Class MONDO:0013281 biolink:NamedThing COG4-CDG COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia. tmpaxzxjjyw_mondo_relaxed.owl COG4-CDG|congenital disorder of glycosylation type IIj|CDG syndrome type IIj|COG4-CDG (CDG-IIj)|congenital disorder of glycosylation, type IIj|congenital disorder of glycosylation type 2j|CDG2J|CDG-IIj|carbohydrate deficient glycoprotein syndrome type IIj|CDG IIj OMIM:613489|GARD:0012412|UMLS:C3150736|Orphanet:263501|SCTID:718751000|ICD10:E77.8|DOID:0070262 owl:Class HGNC:18620 biolink:NamedThing COG4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011430 biolink:NamedThing pulverulent cataract A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33. tmpaxzxjjyw_mondo_relaxed.owl pulverulent cataract|Coppock-like cataract|dusty cataract MESH:C565133|UMLS:C1833118|Orphanet:98984|OMIM:116300|Orphanet:91492|Orphanet:98986|Orphanet:98995|UMLS:CN207240|ICD10:Q12.0 https://github.com/monarch-initiative/mondo/issues/3904 owl:Class HGNC:2410 biolink:NamedThing CRYGC tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0061626 biolink:NamedThing pharyngeal arch artery morphogenesis The process in which the anatomical structures of a pharyngeal arch artery is generated and organized. The pharyngeal arch arteries are a series of six paired embryological vascular structures, the development of which give rise to several major arteries, such as the stapedial artery, the middle meningeal artery, the internal carotid artery and the pulmonary artery. tmpaxzxjjyw_mondo_relaxed.owl aortic arch artery morphogenesis owl:Class HGNC:18667 biolink:NamedThing PMPCA tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007599 biolink:NamedThing hemostasis The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003367 biolink:NamedThing gastric leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl gastric leiomyosarcoma (disease)|gastric leiomyosarcoma|leiomyosarcoma of stomach|stomach leiomyosarcoma gastric leiomyosarcoma (disease) SCTID:447785000|DOID:5280|HP:0031025|UMLS:C0744295|NCIT:C27200 owl:Class CHEBI:24319 biolink:NamedThing EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor An EC 6.3.* (C-N bond-forming ligase) inhibitor that interferes with the action of glutamate--ammonia ligase (EC 6.3.1.2). tmpaxzxjjyw_mondo_relaxed.owl glutamine synthetase inhibitors|L-glutamine synthetase inhibitor|glutamylhydroxamic synthetase inhibitors|glutamate--ammonia ligase inhibitor|glutamine synthetase inhibitor|EC 6.3.1.2 inhibitor|L-glutamine synthetase inhibitors|glutamate--ammonia ligase (EC 6.3.1.2) inhibitor|L-glutamate:ammonia ligase (ADP-forming) inhibitors|EC 6.3.1.2 (glutamate--ammonia ligase) inhibitors|EC 6.3.1.2 inhibitors|glutamate--ammonia ligase inhibitors|L-glutamate:ammonia ligase (ADP-forming) inhibitor|glutamate--ammonia ligase (EC 6.3.1.2) inhibitors|glutamylhydroxamic synthetase inhibitor owl:Class UBERON:0004249 biolink:NamedThing manual digit bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014838 biolink:NamedThing Coffin-Siris syndrome 5 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene. tmpaxzxjjyw_mondo_relaxed.owl COFFIN-SIRIS syndrome 5|CSS5|Coffin-Siris syndrome type 5|Coffin-Siris syndrome caused by mutation in SMARCE1|Coffin-Siris syndrome 5|SMARCE1 Coffin-Siris syndrome OMIM:616938|UMLS:C4310788 owl:Class HGNC:11109 biolink:NamedThing SMARCE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006972 biolink:NamedThing silo filler disease A form of alveolitis or pneumonitis caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage. tmpaxzxjjyw_mondo_relaxed.owl silo filler's disease|silo filler disease|silo-fillers' disease EFO:1001182|MESH:D012832|DOID:4374|UMLS:C0037120|SCTID:61233003 owl:Class HP:0000133 biolink:NamedThing Gonadal dysgenesis tmpaxzxjjyw_mondo_relaxed.owl Pure gonadal dysgenesis|Mixed gonadal dysgenesis SNOMEDCT_US:205681004|MSH:D006060|UMLS:C0018051|SNOMEDCT_US:83579008|MSH:D006059|SNOMEDCT_US:95219002|UMLS:C0018055|SNOMEDCT_US:38804009|UMLS:C0687149 HP:0003243 human_phenotype owl:Class CHEBI:29793 biolink:NamedThing hydridodioxygen(1+) tmpaxzxjjyw_mondo_relaxed.owl dioxidenium|HO2(+)|hydridodioxygen(1+)|HOO(+)|[HO2](+) owl:Class MONDO:0009492 biolink:NamedThing succinyl-CoA:3-ketoacid CoA transferase deficiency Succinyl-CoA:3-ketoacid CoA transferase deficiency (SCOTD) is a defect in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis. tmpaxzxjjyw_mondo_relaxed.owl succinyl-Coa:3-ketoacid Coa-transferase deficiency|ketoacidosis due to Scot deficiency|succinyl-CoA:3-oxoacid CoA transferase deficiency|OXCT1 deficiency|Scot deficiency|3-oxoacid CoA transferase deficiency|succinyl-CoA acetoacetate transferase deficiency|succinyl-Coa:acetoacetate transferase deficiency|SCOTD|succinyl-CoA:3-ketoacid CoA transferase deficiency|SCOT deficiency|succinyl-CoA:3-oxoacid-CoA transferase deficiency ICD10:E71.3|GARD:0004774|Orphanet:832|SCTID:238004006|OMIM:245050|MESH:C537527|ICD9:270.8 owl:Class HGNC:3018 biolink:NamedThing SLC26A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0010004 biolink:NamedThing mononuclear cell of bone marrow A mononuclear cell that is part_of a bone marrow. tmpaxzxjjyw_mondo_relaxed.owl bone marrow mononuclear cell GOC:cjm owl:Class MONDO:0004386 biolink:NamedThing uterine corpus atypical polypoid adenomyoma An adenomyoma that arises from the uterine corpus and is characterized by the presence of marked glandular architectural complexity. It may recur following excision. tmpaxzxjjyw_mondo_relaxed.owl atypical polypoid adenomyoma of body of uterus|body of uterus atypical polypoid adenomyoma DOID:7878|UMLS:C1519844|NCIT:C40235 owl:Class MONDO:0020790 biolink:NamedThing gaze palsy, familial horizontal, with progressive scoliosis 1 tmpaxzxjjyw_mondo_relaxed.owl HGPPS|Ophthalmoplegia, Progressive External, and Scoliosis|gaze palsy, familial horizontal, with progressive scoliosis 1|HGPPS1 OMIM:607313 owl:Class ENVO:01000309 biolink:NamedThing cold environment An environment which has a lower temperature than some local or global average. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001972 biolink:NamedThing submucosa of esophagus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007365 biolink:NamedThing seizures, benign familial neonatal, 1 Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene. tmpaxzxjjyw_mondo_relaxed.owl KCNQ2 benign neonatal seizures|seizures, benign familial neonatal, 1|seizures, benign familial neonatal, 1, and/or myokymia|benign neonatal seizures caused by mutation in KCNQ2|seizures, benign familial neonatal, type 1|BFNS1|epilepsy, benign neonatal, 1, and/or myokymia MESH:C567743|Orphanet:1949|OMIM:121200|UMLS:C3149074 owl:Class HGNC:29670 biolink:NamedThing GNPTAB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013564 biolink:NamedThing anhaptoglobinemia tmpaxzxjjyw_mondo_relaxed.owl AHP|ANHAPTOGLOBINEMIA|Ahaptoglobinemia|anhaptoglobinemia|hypohaptoglobinemia OMIM:614081|UMLS:C3279786 owl:Class OBO:CHR_9606-chr2q35 biolink:NamedThing 2q35 (Human) tmpaxzxjjyw_mondo_relaxed.owl 220700000 214500000 hg38 owl:Class PATO:0000984 biolink:NamedThing porous A porosity quality inhering in a bearer by virtue of the bearer's being capable of admitting the passage of gas or liquid through pores or interstices. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6929 biolink:NamedThing MC1R tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9462 biolink:NamedThing PRPS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003732 biolink:NamedThing adult central nervous system mature teratoma A central nervous system mature teratoma that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl adult central nervous system mature teratoma|central nervous system mature teratoma of adults NCIT:C27400|UMLS:C1332194|DOID:6016 owl:Class MONDO:0016661 biolink:NamedThing infantile onset panniculitis with uveitis and systemic granulomatosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:251304|ICD10:M08.8 owl:Class UBERON:0001735 biolink:NamedThing tonsillar ring tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002912 biolink:NamedThing Methylmalonic acidemia Increased concentration of methylmalonic acid in the blood. tmpaxzxjjyw_mondo_relaxed.owl Elevated circulating methylmalonic acid concentration MSH:C537358|SNOMEDCT_US:42393006|UMLS:C0268583 Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. HP:0003123|HP:0008295 human_phenotype owl:Class UBERON:0013700 biolink:NamedThing axial musculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015648 biolink:NamedThing startle epilepsy Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G40.8|Orphanet:166427|SCTID:763632004|UMLS:CN200058 owl:Class MONDO:0014493 biolink:NamedThing autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V. tmpaxzxjjyw_mondo_relaxed.owl ALPS type 5|ALPS type V|CTLA4 haploinsufficiency with autoimmune infiltration|CTLA-4 haploinsufficiency with autoimmune infiltration disease|chai|CTLA4 haploinsufficiency|autoimmune lymphoproliferative syndrome, type 5|autoimmune lymphoproliferative syndrome, type V|autoimmune lymphoproliferative syndrome type V|autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency|ALPS due to CTLA4 haploinsuffiency|autoimmune lymphoproliferative syndrome type 5|ALPS5 OMIM:616100|GARD:0012316|ICD10:D47.9|UMLS:C4015214|Orphanet:436159|NCIT:C126341 https://rarediseases.info.nih.gov/diseases/12316/autoimmune-lymphoproliferative-syndrome-due-to-ctla4-haploinsuffiency owl:Class MONDO:0011505 biolink:NamedThing familial hypobetalipoproteinemia 2 Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene. tmpaxzxjjyw_mondo_relaxed.owl familial hypobetalipoproteinemia type 2|combined familial hypolipidemia|FHBL2|ANGPTL3 hypobetalipoproteinemia|familial hypobetalipoproteinemia 2|hypobetalipoproteinemia, familial, type 2|hypobetalipoproteinemia caused by mutation in ANGPTL3|hypolipidemia, familial, combined|hypobetalipoproteinemia, familial, 2 DOID:0111061|MESH:C565732|UMLS:C1857970|OMIM:605019 owl:Class HGNC:491 biolink:NamedThing ANGPTL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0043473 biolink:NamedThing pigmentation The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014156 biolink:NamedThing atrial fibrillation, familial, 14 Any familial atrial fibrillation in which the cause of the disease is a mutation in the SCN2B gene. tmpaxzxjjyw_mondo_relaxed.owl atrial fibrillation, familial, type 14|atrial fibrillation, familial, 14|ATFB14|SCN2B familial atrial fibrillation|familial atrial fibrillation caused by mutation in SCN2B Orphanet:334|UMLS:C3809312|OMIM:615378 owl:Class HGNC:10589 biolink:NamedThing SCN2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002905 biolink:NamedThing mutism The inability to generate oral-verbal expression, despite normal comprehension of speech. This may be associated with brain diseases or mental disorders. Organic mutism may be associated with damage to the frontal lobe; brain stem; thalamus; and cerebellum. Selective mutism is a psychological condition that usually affects children characterized by continuous refusal to speak in social situations by a child who is able and willing to speak to selected persons. Kussmal aphasia refers to mutism in psychosis. tmpaxzxjjyw_mondo_relaxed.owl mutism (disease)|mutism mutism (disease) DOID:4189|HP:0002300|MESH:D009155|UMLS:C0026884 owl:Class MONDO:0007734 biolink:NamedThing holoprosencephaly 4 A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis. tmpaxzxjjyw_mondo_relaxed.owl TGIF1 holoprosencephaly|holoprosencephaly 4|holoprosencephaly caused by mutation in TGIF1|HPE4|holoprosencephaly type 4 UMLS:C1840528|MESH:C564180|OMIM:142946|Orphanet:2162|NCIT:C75475|DOID:0110880 owl:Class HGNC:11776 biolink:NamedThing TGIF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25985 biolink:NamedThing PIGG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018353 biolink:NamedThing refractory celiac disease Refractory celiac disease (RCD) is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet. Gliadin, a component of the wheat storage protein gluten, together with similar proteins in barley and rye, are the villains that trigger the immune reaction in celiac disease. The diagnosis of RCD is made by exclusion, especially of any other disorder that can affect the huge number of thread-like projections that line the interior of the intestine (intestinal villi), such as intestinal lymphoma, Crohn's disease, small intestinal bacterial overgrowth or hypogammaglobulinemia. tmpaxzxjjyw_mondo_relaxed.owl refractory sprue|type I refractory sprue|refractory CD|type II refractory sprue|intractable celiac sprue EFO:0009266|Orphanet:398063|ICD10:K90.0|UMLS:CN226092 owl:Class MONDO:0006223 biolink:NamedThing gastric diffuse large B-cell lymphoma An extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach. tmpaxzxjjyw_mondo_relaxed.owl primary diffuse large B-cell lymphoma of the stomach|gastric diffuse large B-cell lymphoma|primary diffuse large B-cell gastric lymphoma|primary gastric diffuse large B-cell lymphoma|primary diffuse large B-cell lymphoma of stomach EFO:1000270|NCIT:C5253|UMLS:C1335483 owl:Class UBERON:0018115 biolink:NamedThing left renal pelvis tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:02500014 biolink:NamedThing forest process tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005730 biolink:NamedThing nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012682 biolink:NamedThing immunodeficiency 35 Any hereditary predisposition to infections in which the cause of the disease is a mutation in the TYK2 gene. tmpaxzxjjyw_mondo_relaxed.owl tyrosine kinase 2 deficiency|IMD35|HIES with atypical Mycobacteriosis, autosomal recessive|TYK2 deficiency|susceptibility to infection due to TYK2 deficiency|TYK2 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|immunodeficiency 35|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in TYK2|autosomal recessive hyper-IgE syndrome due to TYK2 deficiency|hyper-IgE syndrome with atypical Mycobacteriosis, autosomal recessive|immunodeficiency type 35 ICD10:D82.4|MESH:C566928|Orphanet:331226|UMLS:C1969086|OMIM:611521 OMIM has the synonym hyper-IgE syndrome with atypical mycobacteriosis, autosomal recessive but the clinical description does not suggest that this is a type of hyper-IgE syndrome. Some patients presented with hyper-IgE syndrome, whereas one had mildly increased serum IgE. owl:Class HGNC:12440 biolink:NamedThing TYK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr12q14 biolink:NamedThing 12q14 (Human) tmpaxzxjjyw_mondo_relaxed.owl 67300000 57700000 hg38 owl:Class GO:0005938 biolink:NamedThing cell cortex The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. tmpaxzxjjyw_mondo_relaxed.owl cell periphery|peripheral cytoplasm owl:Class MONDO:0001130 biolink:NamedThing nasal cavity lymphoma A primary lymphoma that affects the nasal cavity and the bulk of the tumor is in this anatomic area. tmpaxzxjjyw_mondo_relaxed.owl lymphoma of the nasal cavity|nasal cavity lymphoma|lymphoma of nasal cavity|primary nasal cavity lymphoma NCIT:C6074|DOID:10813|UMLS:C1334921 owl:Class MONDO:0014831 biolink:NamedThing progeroid and marfanoid aspect-lipodystrophy syndrome tmpaxzxjjyw_mondo_relaxed.owl Marfanoid-progeroid syndrome|Marfan-progeroid-lipodystrophy syndrome|Marfan lipodystrophy syndrome|MFLS OMIM:616914|UMLS:C4310796|Orphanet:300382|ICD10:E88.1 owl:Class MONDO:0012056 biolink:NamedThing Leber congenital amaurosis 9 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the NMNAT1 gene. tmpaxzxjjyw_mondo_relaxed.owl Leber congenital amaurosis type 9|NMNAT1 Leber congenital amaurosis|Leber congenital amaurosis 9|amaurosis congenita of Leber, type 9|LCA9|Leber congenital amaurosis caused by mutation in NMNAT1 Orphanet:65|MESH:C536603|ICD10:H35.5|GARD:0009491|OMIM:608553|DOID:0110005 https://rarediseases.info.nih.gov/diseases/9491/leber-congenital-amaurosis-9 owl:Class ENVO:01000155 biolink:NamedThing organic material Environmental material derived from living organisms and composed primarily of one or more biomacromolecules. tmpaxzxjjyw_mondo_relaxed.owl biomass owl:Class NCBITaxon:29930 biolink:NamedThing Ixodes pacificus tmpaxzxjjyw_mondo_relaxed.owl western blacklegged tick|California black legged tick GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013198 biolink:NamedThing dilated cardiomyopathy 1EE Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, type 1Ee|cardiomyopathy, dilated, 1EE|familial isolated dilated cardiomyopathy caused by mutation in MYH6|MYH6 familial isolated dilated cardiomyopathy|CMD1EE|dilated cardiomyopathy type 1EE UMLS:C2750466|OMIM:613252|Orphanet:154|MESH:C567683|ICD10:I42.0|DOID:0110453 owl:Class UBERON:0010844 biolink:NamedThing clavicle pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014840 biolink:NamedThing agammaglobulinemia 8, autosomal dominant Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the TCF3 gene. tmpaxzxjjyw_mondo_relaxed.owl agammaglobulinemia, autosomal dominant, due to TCF3 defect|AGM8|autosomal agammaglobulinemia caused by mutation in TCF3|TCF3 autosomal agammaglobulinemia|agammaglobulinemia 8, autosomal dominant|agammaglobulinemia 8, autosomal dominant; AGM8 UMLS:C4310786|OMIM:616941 owl:Class HGNC:11633 biolink:NamedThing TCF3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013758 biolink:NamedThing Charcot-Marie-Tooth disease dominant intermediate E Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterised by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, dominant intermediate E|Charcot-Marie-Tooth disease-nephropathy syndrome|Charcot-Marie-Tooth disease, dominant Intermediate type E|autosomal dominant intermediate Charcot-Marie-Tooth disease type E|Charcot-Marie-Tooth disease dominant intermediate E|Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis|CMTDIE|Charcot-Marie-Tooth disease - nephropathy|Charcot-Marie-Tooth disease dominant intermediate type E UMLS:C4302667|UMLS:C3280845|DOID:0110205|OMIM:614455|SCTID:722294004|Orphanet:93114|GARD:0012011|ICD10:G60.0 Not in the OMIM series. owl:Class ENVO:01001609 biolink:NamedThing cryospheric layer A layer which is part of a cryosphere. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:24539 biolink:NamedThing NECAP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043771 biolink:NamedThing radiodermatitis A cutaneous inflammatory reaction occurring as a result of exposure to biologically effective levels of ionizing radiation. tmpaxzxjjyw_mondo_relaxed.owl radiation-induced Dermatitides|radiation recall reactions|radiation induced dermatitis|dermatitis, radiation induced|radiation recall reaction|recall reaction, radiation|Radiodermatitides|Dermatitides, radiation-induced|dermatitis, radiation-induced|radiation-induced dermatitis|reaction, radiation recall|radiation dermatitis|radiation recall dermatitis|Dermatitides, radiation recall|reactions, radiation recall|radiation recall Dermatitides|recall reactions, radiation|radiodermatitis|dermatitis radiation|dermatitis, radiation recall SCTID:49084001|MESH:D011855|NCIT:C3349|EFO:1001840 owl:Class OBO:CHR_9606-chr15q24 biolink:NamedThing 15q24 (Human) tmpaxzxjjyw_mondo_relaxed.owl 78000000 72400000 hg38 owl:Class OBO:CHR_9606-chr15q2 biolink:NamedThing 15q2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 101991189 44500000 hg38 owl:Class MONDO:0011650 biolink:NamedThing atrioventricular septal defect, susceptibility to, 2 Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene. tmpaxzxjjyw_mondo_relaxed.owl atrioventricular septal defect, susceptibility to, type 2|AVSD2|CRELD1 atrioventricular septal defect|atrioventricular septal defect caused by mutation in CRELD1|atrioventricular septal defect, partial, with heterotaxy syndrome|susceptibility to atrioventricular septal defect 2|atrioventricular septal defect, susceptibility to, 2 OMIM:606217|MESH:C565249|Orphanet:98722 owl:Class UBERON:0005597 biolink:NamedThing lung primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10985 biolink:NamedThing SLC25A15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21157 biolink:NamedThing GTF2H5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002283 biolink:NamedThing nail matrix tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005598 biolink:NamedThing trunk somite tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009674 biolink:NamedThing accessory XI nerve spinal component tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005991 biolink:NamedThing aortic valve anulus tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002017 biolink:NamedThing Kit-negative, Ly-76 high orthochromatophilic erythroblasts An orthochromatophilic erythroblast that is ter119-high, CD71-low, and Kit-negative. tmpaxzxjjyw_mondo_relaxed.owl Cell surface markers associated with mouse cells. tmeehan 2010-04-26T11:04:15Z cell owl:Class UBERON:0015458 biolink:NamedThing mediastinal fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19261 biolink:NamedThing MTO1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014935 biolink:NamedThing frontometaphyseal dysplasia 2 Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene. tmpaxzxjjyw_mondo_relaxed.owl Frontometaphyseal dysplasia 2|frontometaphyseal dysplasia 2; FMD2|MAP3K7 frontometaphyseal dysplasia|Frontometaphyseal dysplasia type 2|frontometaphyseal dysplasia caused by mutation in MAP3K7|FMD2 OMIM:617137|UMLS:C4310697|DOID:0111787 owl:Class Naebe88e01d09452f99b9f7bd1e72c00f biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010169 biolink:NamedThing Usher syndrome type 2A Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene. tmpaxzxjjyw_mondo_relaxed.owl Usher syndrome caused by mutation in USH2A|Usher syndrome type 2A|US2|USH2A|Usher syndrome, type 2A|USH2A Usher syndrome|USHER syndrome, type IIA|Usher syndrome type IIA ICD10:H35.5|GARD:0005440|OMIM:276901|Orphanet:886|DOID:0110838|MESH:C536490|UMLS:C1848634|Orphanet:231178 owl:Class HP:0003401 biolink:NamedThing Paresthesia Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. tmpaxzxjjyw_mondo_relaxed.owl Pins and needles feeling|Tingling|Paresthesias MSH:D010292|UMLS:C0030554|SNOMEDCT_US:91019004 HP:0002082 human_phenotype owl:Class MONDO:0011435 biolink:NamedThing microcephaly 2, primary, autosomal recessive, with or without cortical malformations tmpaxzxjjyw_mondo_relaxed.owl microcephaly 2, primary, autosomal recessive, with or without cortical malformations|MCPH2 UMLS:C1858535|OMIM:604317|DOID:0070293|MESH:C565794 owl:Class HGNC:24502 biolink:NamedThing WDR62 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023138 biolink:NamedThing Feingold trainer syndrome tmpaxzxjjyw_mondo_relaxed.owl unusual facies, cleft palate, short stature, and mental retardation|unusual facies, cleft palate, short stature, and intellectual disability MESH:C536179|GARD:0002282|UMLS:C2931126 https://rarediseases.info.nih.gov/diseases/2282/feingold-trainer-syndrome owl:Class MONDO:0014431 biolink:NamedThing LIPE-related familial partial lipodystrophy tmpaxzxjjyw_mondo_relaxed.owl lipodystrophy, familial partial, type 6|FPLD6|familial partial lipodystrophy associated with LIPE mutations|LIPE-related FPLD|familial partial lipodystrophy type 6|lipodystrophy, familial partial, associated with Lipe mutations OMIM:615980|ICD10:E88.1|Orphanet:435660|UMLS:C4014869|DOID:0070206|GARD:0013126 https://rarediseases.info.nih.gov/diseases/13126/lipe-related-familial-partial-lipodystrophy owl:Class HGNC:6621 biolink:NamedThing LIPE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012828 biolink:NamedThing atrial fibrillation, familial, 7 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNA5 gene. tmpaxzxjjyw_mondo_relaxed.owl atrial fibrillation, familial, 7|ATFB7|familial atrial fibrillation caused by mutation in KCNA5|atrial fibrillation, familial, type 7|KCNA5 familial atrial fibrillation MESH:C567389|Orphanet:334|OMIM:612240|UMLS:C2677106 owl:Class HGNC:6224 biolink:NamedThing KCNA5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003591 biolink:NamedThing kidney liposarcoma A rare malignant adipose tissue neoplasm of the fat cells surrounding the kidney, usually of the well-differentiated or myxoid type. It may be associated with tuberous sclerosis. tmpaxzxjjyw_mondo_relaxed.owl liposarcoma of the kidney|renal liposarcoma|liposarcoma of kidney|kidney liposarcoma DOID:5699|NCIT:C6185|UMLS:C1335745 owl:Class HGNC:4268 biolink:NamedThing CBLIF tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000466 biolink:NamedThing chromaffin cell of right ovary A chromaffin cell that is part of the right ovary. tmpaxzxjjyw_mondo_relaxed.owl FMA:74320 cell owl:Class UBERON:0002118 biolink:NamedThing right ovary tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:2001053 biolink:NamedThing future internal carotid artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003617 biolink:NamedThing trachea elastic tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033615 biolink:NamedThing coenzyme q10 deficiency, primary, 9 tmpaxzxjjyw_mondo_relaxed.owl COQ10D9 OMIM:619028 owl:Class HGNC:28722 biolink:NamedThing COQ5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:15714 biolink:NamedThing LRPPRC tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001910 biolink:NamedThing regulation of leukocyte mediated cytotoxicity Any process that modulates the frequency, rate, or extent of leukocyte mediated cytotoxicity. tmpaxzxjjyw_mondo_relaxed.owl regulation of leucocyte mediated cytotoxicity|regulation of immune cell mediated cell death|regulation of immune cell mediated cytotoxicity|regulation of immune cell mediated cell killing owl:Class CHEBI:136849 biolink:NamedThing 3-oxo-Delta(4)-steroid group An organic group derived from any 3-oxo-Delta(4)-steroid. tmpaxzxjjyw_mondo_relaxed.owl a 3-oxo-Delta4-steroid group owl:Class MONDO:0014084 biolink:NamedThing ataxia with oculomotor apraxia type 3 tmpaxzxjjyw_mondo_relaxed.owl ataxia-oculomotor apraxia type 3|ataxia-oculomotor apraxia-3|ataxia-oculomotor apraxia 3|AOA3 GARD:0013112|UMLS:C3554690|OMIM:615217|DOID:0060557 owl:Class HGNC:30035 biolink:NamedThing PIK3R5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0014477 biolink:NamedThing thoracic skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19351 biolink:NamedThing BICC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019643 biolink:NamedThing transient pseudohypoaldosteronism Transient pseudohypoaldosteronism is a renal tubulopathy characterized by renal tubular resistance to aldosterone, characterized by hyponatremia, metabolic acidosis and hyperkalemia and manifesting as dehydration, secondary to urinary tract malformation and infections in infants. tmpaxzxjjyw_mondo_relaxed.owl TPHA SCTID:717263009|UMLS:CN776908|Orphanet:93164|UMLS:C4273962|ICD10:N15.8 owl:Class MONDO:0000520 biolink:NamedThing parietal lobe ependymal tumor An ependymal tumor affecting the parietal lobe of the brain. tmpaxzxjjyw_mondo_relaxed.owl parietal lobe ependymal tumor|parietal lobe ependymoma|ependymal tumor of parietal lobe DOID:0050903|UMLS:C4330935|NCIT:C131575 owl:Class MONDO:0025485 biolink:NamedThing feline acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (fiv) and in some cats infected with feline leukemia virus (Felv). tmpaxzxjjyw_mondo_relaxed.owl Feline immunodeficiency virus caused cat disease|Feline AIDS|Feline acquired immuno-deficiency syndrome|Feline immunodeficiency virus cat disease|AIDS, Feline|FAIDS|Feline acquired immune deficiency syndrome|Feline acquired immuno deficiency syndrome MESH:D016181|UMLS:C0079335 Editor note: consider separate class for infectious disease owl:Class NCBITaxon:11673 biolink:NamedThing Feline immunodeficiency virus tmpaxzxjjyw_mondo_relaxed.owl feline immunodeficiency virus FIV|FIV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013430 biolink:NamedThing Meier-Gorlin syndrome 3 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene. tmpaxzxjjyw_mondo_relaxed.owl Meier-Gorlin syndrome type 3|Meier-Gorlin syndrome caused by mutation in ORC6|Meier-Gorlin syndrome 3|MGORS3|ORC6 Meier-Gorlin syndrome|Meier-GORLIN syndrome 3 Orphanet:2554|OMIM:613803|UMLS:C3151113|DOID:0080514 owl:Class HGNC:17151 biolink:NamedThing ORC6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035606 biolink:NamedThing cartilage of external acoustic meatus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003387 biolink:NamedThing smooth muscle of trachea tmpaxzxjjyw_mondo_relaxed.owl owl:Class N723cc2611ad0498dacdfd99e6c93f7c6 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0043187 biolink:NamedThing pulmonary artery agenesis tmpaxzxjjyw_mondo_relaxed.owl pulmonary artery agenesis|congenital absence of pulmonary artery|pulmonary artery absent|agenesis of pulmonary artery SCTID:86252004|GARD:0004585 owl:Class MONDO:0007848 biolink:NamedThing autosomal dominant keratitis Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl dominantly inherited keratitis|keratitis, autosomal dominant|hereditary keratitis|keratitis, hereditary SCTID:715339004|Orphanet:2334|MESH:C537022|UMLS:C1835698|UMLS:C4017065|GARD:0003089|DOID:0111383|ICD10:H16.8|UMLS:CN068649|OMIM:148190 owl:Class CHEBI:16137 biolink:NamedThing chondroitin D-glucuronate A mucopolysaccharide composed of repeating beta-D-glucopyranuronosyl-(1->3)-beta-D-N-acetylgalactosaminyl units. tmpaxzxjjyw_mondo_relaxed.owl Chondroitin|Chondroitin-D-glucuronate owl:Class OBO:CHR_9606-chrXp21 biolink:NamedThing Xp21 (Human) tmpaxzxjjyw_mondo_relaxed.owl 37800000 24900000 hg38 owl:Class CL:0000223 biolink:NamedThing endodermal cell A cell of the inner of the three germ layers of the embryo. tmpaxzxjjyw_mondo_relaxed.owl endoderm cell FMA:72555 cell owl:Class HGNC:26938 biolink:NamedThing HIKESHI tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013984 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 84B Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness caused by mutation in OTOGL|autosomal recessive nonsyndromic deafness type 84B|deafness, autosomal recessive type 84B|autosomal recessive nonsyndromic deafness 84B|DFNB84B|OTOGL autosomal recessive nonsyndromic deafness|deafness, autosomal recessive 84B|autosomal recessive deafness 84B DOID:0110530|UMLS:C3554159|OMIM:614944|ICD10:H90.3 owl:Class HGNC:26901 biolink:NamedThing OTOGL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007110 biolink:NamedThing Diamond-Blackfan anemia 1 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene. tmpaxzxjjyw_mondo_relaxed.owl Aase-Smith syndrome 2|aregenerative Anemia, chronic congenital|DBA|Diamond-Blackfan anemia 1|anemia, congenital erythroid hypoplastic|Aase syndrome|RPS19 Diamond-Blackfan anemia|Diamond-Blackfan Anemia type 1|Blackfan-Diamond syndrome|erythrogenesis imperfecta|DBA1|Red cell aplasia, Pure, hereditary|anemia, congenital hypoplastic, of Blackfan and Diamond|Diamond-Blackfan anemia caused by mutation in RPS19 Orphanet:124|UMLS:C2676137|OMIM:105650 owl:Class HGNC:10402 biolink:NamedThing RPS19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7197 biolink:NamedThing MOG tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11724 biolink:NamedThing TEK tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000231 biolink:NamedThing lava Lava is a mixture of molten or semi-molten rock, volatiles, and solids which has extruded beyond a planetary crust. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013638 biolink:NamedThing Warburg micro syndrome 3 Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene. tmpaxzxjjyw_mondo_relaxed.owl Warburg micro syndrome caused by mutation in RAB18|micro syndrome 3|RAB18 Warburg micro syndrome|Warburg micro syndrome 3|WARBURG micro syndrome 3|WARBM3|Warburg micro syndrome type 3 OMIM:614222|Orphanet:2510|ICD10:Q87.0|UMLS:C3280203|DOID:0110718 owl:Class MONDO:0008908 biolink:NamedThing MGAT2-CDG MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21). tmpaxzxjjyw_mondo_relaxed.owl CDG syndrome type IIa|MGAT2-CDG (CDG-IIa)|CDG IIa|congenital disorder of glycosylation type 2a|CDG 2A|carbohydrate-deficient glycoprotein syndrome type 2|CDGS2|carbohydrate-deficient glycoprotein syndrome, type II|CDG-IIa|carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly|CDG2A|congenital disorder of glycosylation, type IIa|carbohydrate-deficient glycoprotein syndrome, type II, formerly|carbohydrate deficient glycoprotein syndrome type IIa|Alkuraya syndrome|N-acetylglucosaminyltransferase 2 deficiency|intellectual disability, Growth retardation, prominent columella, and open mouth|congenital disorder of glycosylation type IIa|mental retardation, Growth retardation, prominent columella, and open mouth MESH:C535752|GARD:0009828|SCTID:724142005|UMLS:C2931008|OMIM:212066|DOID:0070253|Orphanet:79329|ICD10:E77.8 owl:Class HGNC:7045 biolink:NamedThing MGAT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011332 biolink:NamedThing extrinsic tongue pre-muscle mass tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7448 biolink:NamedThing MTM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:7178 biolink:NamedThing Culex tritaeniorhynchus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009434 biolink:NamedThing hypoproteinemia, hypercatabolic tmpaxzxjjyw_mondo_relaxed.owl hypoproteinemia, hypercatabolic|immunodeficiency 43|Beta-2-microglobulin deficiency|B2M deficiency|IMD43 MESH:C565476|OMIM:241600|UMLS:C1855796 owl:Class HGNC:914 biolink:NamedThing B2M tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7795 biolink:NamedThing NFKB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000843 biolink:NamedThing Hyperparathyroidism Excessive production of parathyroid hormone (PTH) by the parathyroid glands. tmpaxzxjjyw_mondo_relaxed.owl Elevated blood parathyroid hormone level SNOMEDCT_US:66999008|MSH:D006961|UMLS:C0020502 human_phenotype owl:Class MONDO:0003319 biolink:NamedThing scrotum neoplasm A benign or malignant neoplasm that affects the scrotum. tmpaxzxjjyw_mondo_relaxed.owl scrotal Ca|malignant tumour of scrotum|tumor of scrotum|scrotum neoplasm (disease)|malignant tumor of scrotum|scrotum tumor|scrotal tumor|tumor of the scrotum|malignant scrotal neoplasm|scrotal neoplasm|neoplasm of the scrotum|neoplasm of scrotum SCTID:126905005|NCIT:C4380|SCTID:363454002|ICD9:239.5|DOID:518|ICD10:C63.2|UMLS:C0341790|ICD9:187.7|UMLS:C0153604|NCIT:C3560 owl:Class CL:0002485 biolink:NamedThing retinal melanocyte A melanocyte of the retina. This cell type is distinct from pigmented retinal epithelium. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-12-03T03:25:32Z cell owl:Class HGNC:23044 biolink:NamedThing NANOS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014704 biolink:NamedThing skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome tmpaxzxjjyw_mondo_relaxed.owl KOGS|skeletal overgrowth with Facial Dysmorphism, hyperelastic skin, White matter lesions, and neurologic deterioration|Kosaki overgrowth syndrome UMLS:C4225270|Orphanet:477831|OMIM:616592 owl:Class MONDO:0013565 biolink:NamedThing Fanconi anemia complementation group G Fanconi anemia caused by mutations of the FANCG gene. tmpaxzxjjyw_mondo_relaxed.owl Fanconi anemia complementation group type G|Fanconi anemia, complementation group G|FANCG|Fanconi anemia complementation group G|Fanconi Anemia, complementation group type G OMIM:614082|NCIT:C125708|DOID:0111086|EFO:0009046 owl:Class MONDO:0010321 biolink:NamedThing autism, susceptibility to, X-linked 1 tmpaxzxjjyw_mondo_relaxed.owl AUTSX1|autism, susceptibility to, X-linked 1|autism, susceptibility to, X-linked type 1|susceptibility to X-linked autism 1 OMIM:300425 owl:Class MONDO:0001935 biolink:NamedThing neurogenic arthropathy Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly tabes dorsalis, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl Charcot's arthropathy|arthropathy associated with neurological disorder|Charcot's joint|neuropathic arthropathy|neuropathic arthropathy (& Charcot's) EFO:1001378|SCTID:359554008|UMLS:C0003892|DOID:14286|ICD9:713.5|ICD10:M14.6|MESH:D001177 owl:Class HP:0002905 biolink:NamedThing Hyperphosphatemia An abnormally increased phosphate concentration in the blood. tmpaxzxjjyw_mondo_relaxed.owl High blood phosphate levels MSH:D054559|SNOMEDCT_US:20165001|UMLS:C0085681|UMLS:C0553706 human_phenotype owl:Class HGNC:23096 biolink:NamedThing SLC29A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003495 biolink:NamedThing respiratory system arteriole tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0071707 biolink:NamedThing immunoglobulin heavy chain V-D-J recombination The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). tmpaxzxjjyw_mondo_relaxed.owl immunoglobulin V(D)J recombination|immunoglobulin V-D-J joining|immunoglobulin V(D)J joining owl:Class HGNC:17994 biolink:NamedThing TRPM7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014997 biolink:NamedThing nephronophthisis 20 Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene. tmpaxzxjjyw_mondo_relaxed.owl NPHP20|MAPKBP1 nephronophthisis (disease)|nephronophthisis 20|nephronophthisis type 20|nephronophthisis (disease) caused by mutation in MAPKBP1 OMIM:617271|UMLS:C4310640|DOID:0111127 owl:Class HGNC:29536 biolink:NamedThing MAPKBP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:621 biolink:NamedThing Shigella boydii tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:16561743 ncbi_taxonomy owl:Class OBO:CHR_9606-chrXq26 biolink:NamedThing Xq26 (Human) tmpaxzxjjyw_mondo_relaxed.owl 138900000 129500000 hg38 owl:Class MONDO:0008453 biolink:NamedThing adult-onset proximal spinal muscular atrophy, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl SMAFK|autosomal dominant adult-onset proximal spinal muscular atrophy|Finkel disease|Finkel late-adult type Sma|autosomal dominant late-onset spinal muscular atrophy, Finkel type|spinal muscular atrophy, late-onset, FINKEL type|autosomal dominant adult-onset proximal SMA|spinal muscular atrophy, proximal, adult, autosomal dominant DOID:0111194|Orphanet:209335|OMIM:182980|ICD10:G12.1|UMLS:CN200940 owl:Class HGNC:14539 biolink:NamedThing RNF213 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001185 biolink:NamedThing right renal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11653 biolink:NamedThing TCN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6192 biolink:NamedThing JAK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr9q3 biolink:NamedThing 9q3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 138394717 99800000 hg38 owl:Class HGNC:15864 biolink:NamedThing RBCK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:90 biolink:NamedThing ACADS tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:149552 biolink:NamedThing emetic Any agent that induces nausea and vomiting. tmpaxzxjjyw_mondo_relaxed.owl emetics owl:Class MONDO:0010517 biolink:NamedThing ciliary dyskinesia, primary, 36, X-linked Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the PIH1D3 gene. tmpaxzxjjyw_mondo_relaxed.owl PIH1D3 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in PIH1D3|ciliary dyskinesia, primary, 36, X-linked; CILD36|ciliary dyskinesia, primary, 36, X-linked|CILD36|ciliary dyskinesia, primary, 36, with or without situs inversus OMIM:300991|UMLS:C4478372|UMLS:CN240511 owl:Class HGNC:28570 biolink:NamedThing DNAAF6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:38070 biolink:NamedThing anti-arrhythmia drug A drug used for the treatment or prevention of cardiac arrhythmias. Anti-arrhythmia drugs may affect the polarisation-repolarisation phase of the action potential, its excitability or refractoriness, or impulse conduction or membrane responsiveness within cardiac fibres. tmpaxzxjjyw_mondo_relaxed.owl anti-arrhythmia agent|antiarrhythmic agent owl:Class HGNC:5157 biolink:NamedThing HPRT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013765 biolink:NamedThing coronary heart disease, susceptibility to, 6 Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene. tmpaxzxjjyw_mondo_relaxed.owl coronary heart disease, susceptibility to, 6|coronary heart disease, susceptibility to, type 6|coronary artery disease caused by mutation in MMP3|MMP3 coronary artery disease|CHDS6|susceptibility to coronary heart disease 6 OMIM:614466 owl:Class HGNC:7173 biolink:NamedThing MMP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008869 biolink:NamedThing Seckel syndrome 1 Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene. tmpaxzxjjyw_mondo_relaxed.owl microcephalic primordial dwarfism 1|Seckel syndrome 1|Bird-headed dwarfism|Sckl|Seckel syndrome type 1|nanocephalic dwarfism|ATR Seckel syndrome|Seckel syndrome 3|microcephalic primordial dwarfism I|Seckel syndrome caused by mutation in ATR|Seckel-type dwarfism|SCKL1 DOID:0070007|Orphanet:808|OMIM:210600|UMLS:CN033164|UMLS:C1837590|UMLS:C0265202 owl:Class MONDO:0006262 biolink:NamedThing lacrimal gland adenoid cystic carcinoma A adenoid cystic carcinoma that involves the lacrimal gland. tmpaxzxjjyw_mondo_relaxed.owl adenoid cystic carcinoma of lacrimal gland|adenoid cystic carcinoma of the lacrimal gland|lacrimal gland adenoid cystic carcinoma UMLS:C0346340|EFO:1000317|NCIT:C4540|DOID:4870|SCTID:254987003 owl:Class MONDO:0010328 biolink:NamedThing alpha-thalassemia-myelodysplastic syndrome Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH). tmpaxzxjjyw_mondo_relaxed.owl ALPHA-thalassemia myelodysplasia syndrome|ATMDS|Hemoglobin H disease, acquired|acquired hemoglobin H disease|acquired HbH disease Orphanet:231401|ICD10:D56.0|MESH:C563023|OMIM:300448|UMLS:C0585216|ICD9:282.49|SCTID:307343001|ICD10:D46.7 owl:Class HGNC:6584 biolink:NamedThing LHB tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:15685 biolink:NamedThing B4GAT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001841 biolink:NamedThing neural tube formation The formation of a tube from the flat layer of ectodermal cells known as the neural plate. This will give rise to the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl neurulation|neural tube morphogenesis owl:Class MONDO:0010449 biolink:NamedThing autism, susceptibility to, X-linked 5 tmpaxzxjjyw_mondo_relaxed.owl AUTSX5|autism, susceptibility to, X-linked type 5|susceptibility to X-linked autism 5|autism, susceptibility to, X-linked 5 OMIM:300847 owl:Class HGNC:232 biolink:NamedThing ADCY1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5261 biolink:NamedThing HSPD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008125 biolink:NamedThing nonsyndromic congenital nail disorder 5 tmpaxzxjjyw_mondo_relaxed.owl NDNC5|onycholysis, partial, with scleronychia|nail disorder, nonsyndromic congenital, 5|nonsyndromic congenital nail disorder type 5|onycholysis, hereditary distal MESH:C563503|OMIM:164800|UMLS:C1833909|DOID:0080083 owl:Class MONDO:0018783 biolink:NamedThing fibroblastic rheumatism tmpaxzxjjyw_mondo_relaxed.owl SCTID:399964004|UMLS:C1302753|ICD9:729.0|Orphanet:477650 owl:Class MONDO:0014325 biolink:NamedThing pachyonychia congenita 4 Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene. tmpaxzxjjyw_mondo_relaxed.owl PC4|pachyonychia congenita type 4|KRT6B pachyonychia congenita|pachyonychia congenita 4|pachyonychia congenita caused by mutation in KRT6B Orphanet:2309|OMIM:615728|UMLS:C3714949 owl:Class MONDO:0014173 biolink:NamedThing microcephaly 11, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive primary microcephaly caused by mutation in PHC1|microcephaly 11, primary, autosomal recessive|PHC1 autosomal recessive primary microcephaly|MCPH11 OMIM:615414|DOID:0070287|UMLS:C3809431 owl:Class MONDO:0015694 biolink:NamedThing malignant melanoma of the mucosa A melanoma (disease) that involves the mucosa. tmpaxzxjjyw_mondo_relaxed.owl mucosa melanoma|melanoma (disease) of mucosa|mucosa melanoma (disease) UMLS:CN200193|Orphanet:168999|GARD:0012649 owl:Class HGNC:8847 biolink:NamedThing PER3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4976 biolink:NamedThing HLCS tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001665 biolink:NamedThing triceps surae tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXp11 biolink:NamedThing Xp11 (Human) tmpaxzxjjyw_mondo_relaxed.owl 61000000 37800000 hg38 owl:Class MONDO:0012271 biolink:NamedThing mesoaxial synostotic syndactyly with phalangeal reduction Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly. tmpaxzxjjyw_mondo_relaxed.owl MSSD|syndactyly, mesoaxial synostotic, with phalangeal reduction|syndactyly type 9|syndactyly mesoaxial synostotic with phalangeal reduction|syndactyly, type 9|syndactyly Malik-Percin type|syndactyly, Malik-Percin type SCTID:724170007|OMIM:609432|MESH:C563721|ICD10:Q70.0|GARD:0010590|Orphanet:157801|ICD10:Q70.2|UMLS:C1836206 owl:Class HGNC:7508 biolink:NamedThing MUC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012683 biolink:NamedThing pontocerebellar hypoplasia type 6 Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis. tmpaxzxjjyw_mondo_relaxed.owl RARS2 non-syndromic pontocerebellar hypoplasia|encephalopathy, fatal infantile, with mitochondrial respiratory chain defects|fatal infantile encephalopathy with mitochondrial respiratory chain defects|PCH6|pontocerebellar hypoplasia, type 6|encephalopathy fatal infantile with mitochondrial respiratory chain defects|pontocerebellar hypoplasia type 6|non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2 DOID:0060275|MESH:C548074|UMLS:C1969084|Orphanet:166073|GARD:0010710|SCTID:718606005|OMIM:611523|ICD10:Q04.3 https://rarediseases.info.nih.gov/diseases/10710/pontocerebellar-hypoplasia-type-6 owl:Class HGNC:21406 biolink:NamedThing RARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017783 biolink:NamedThing congenital pancreatic cyst tmpaxzxjjyw_mondo_relaxed.owl neonatal congenital pancreatic cyst|true congenital pancreatic cyst Orphanet:313906|ICD10:Q45.2|SCTID:204808002 owl:Class MONDO:0014026 biolink:NamedThing congenital stationary night blindness 1F Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene. tmpaxzxjjyw_mondo_relaxed.owl night blindness, congenital stationary, type 1F|LRIT3 congenital stationary night blindness|congenital stationary night blindness type 1F|congenital stationary night blindness caused by mutation in LRIT3|congenital stationary night blindness 1F autosomal recessive|CSNB1F UMLS:C3554399|DOID:0110864|Orphanet:215|OMIM:615058 owl:Class MONDO:0014537 biolink:NamedThing nephronophthisis 19 Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene. tmpaxzxjjyw_mondo_relaxed.owl nephronophthisis 19|DCDC2 nephronophthisis (disease)|nephronophthisis type 19|nephronophthisis (disease) caused by mutation in DCDC2|NPHP19 DOID:0111126|UMLS:C4015542|OMIM:616217 owl:Class HGNC:6107 biolink:NamedThing PDX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000375 biolink:NamedThing bronchus carcinoma in situ A carcinoma in situ involving a bronchus. tmpaxzxjjyw_mondo_relaxed.owl bronchus in situ carcinoma|stage 0 bronchus carcinoma|carcinoma in situ of bronchus DOID:0050614|UMLS:C2939445|SCTID:92557009 owl:Class MONDO:0015656 biolink:NamedThing metabolic disease with epilepsy tmpaxzxjjyw_mondo_relaxed.owl metabolic diseases with epilepsy 2022-03-01 Orphanet:166481|UMLS:C1299598 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0007852 biolink:NamedThing palmoplantar keratoderma-deafness syndrome Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. tmpaxzxjjyw_mondo_relaxed.owl focal palmoplantar keratoderma with sensorineural deafness (subtype)|diffuse palmoplantar keratoderma with deafness (subtype)|palmoplantar keratoderma and sensorineural deafness|palmoplantar hyperkeratosis-hearing loss syndrome|keratoderma palmoplantar deafness|PPK-deafness syndrome|palmoplantar keratoderma-hearing loss syndrome|keratoderma palmoplantar, with deafness|palmoplantar hyperkeratosis-deafness syndrome|keratoderma, palmoplantar, with deafness|hereditary palmoplantar keratoderma with deafness (subtype) ICD10:Q82.8|DOID:0111505|UMLS:C1835672|GARD:0003094|OMIM:148350|MESH:C536152|Orphanet:2202 owl:Class NCBITaxon:226665 biolink:NamedThing Rickettsia heilongjiangensis tmpaxzxjjyw_mondo_relaxed.owl Rickettsia heilongjiangii PMID:14662925|PMID:10970415|GC_ID:11 NCBITaxon:131729 ncbi_taxonomy owl:Class HGNC:29419 biolink:NamedThing EARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8515 biolink:NamedThing OTOF tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003474 biolink:NamedThing meningeal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:34607 biolink:NamedThing Amblyomma cajennense tmpaxzxjjyw_mondo_relaxed.owl Cayenne tick|Acarus cajennensis GC_ID:1 NCBITaxon:59639 ncbi_taxonomy owl:Class NCBITaxon:469 biolink:NamedThing Acinetobacter tmpaxzxjjyw_mondo_relaxed.owl PMID:7520730|PMID:9336926|GC_ID:11|PMID:9226915|PMID:8934907|PMID:10028249 ncbi_taxonomy owl:Class CHEBI:32600 biolink:NamedThing tetracene An acene that consists of four ortho-fused benzene rings in a rectilinear arrangement. tmpaxzxjjyw_mondo_relaxed.owl naphthacene|benz[b]anthracene|tetracene|2,3-benzanthracene owl:Class MONDO:0013673 biolink:NamedThing Wolfram-like syndrome Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings. tmpaxzxjjyw_mondo_relaxed.owl Wolfram-like syndrome, autosomal dominant|hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation|Wolfram-like syndrome|WFSL OMIM:614296|ICD10:E13.8|SCTID:734022008|UMLS:C4518338|Orphanet:411590|DOID:0080584|UMLS:C3280358|EFO:0009063|MESH:C565631 owl:Class HGNC:10560 biolink:NamedThing ATXN7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002430 biolink:NamedThing CD4-intermediate, CD8-positive double-positive thymocyte A double-positive thymocyte that is undergoing positive selection, has high expression of the alpha-beta T cell receptor, is CD69-positive, and is in the process of down regulating the CD4 co-receptor. tmpaxzxjjyw_mondo_relaxed.owl T.4int8+.Th tmeehan 2010-10-21T02:29:19Z cell owl:Class MONDO:0011137 biolink:NamedThing retinitis pigmentosa 19 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene. tmpaxzxjjyw_mondo_relaxed.owl RP 19|retinitis pigmentosa 19|ABCA4 retinitis pigmentosa|retinitis pigmentosa caused by mutation in ABCA4|retinitis pigmentosa type 19|RP19 DOID:0110354|UMLS:C1866422|OMIM:601718|ICD10:H35.5|Orphanet:791|MESH:C566637|GARD:0010398 https://rarediseases.info.nih.gov/diseases/10398/retinitis-pigmentosa-19 owl:Class MONDO:0012738 biolink:NamedThing long QT syndrome 11 Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene. tmpaxzxjjyw_mondo_relaxed.owl long QT syndrome caused by mutation in AKAP9|long QT syndrome 11|long QT syndrome type 11|LQT11|AKAP9 long QT syndrome OMIM:611820|UMLS:C2678483|MESH:C567513|GARD:0010437|ICD10:I45.8|Orphanet:101016|Orphanet:768|DOID:0110652 https://rarediseases.info.nih.gov/diseases/10437/long-qt-syndrome-11 owl:Class HGNC:379 biolink:NamedThing AKAP9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032504 biolink:NamedThing multicellular organism reproduction The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr15q14 biolink:NamedThing 15q14 (Human) tmpaxzxjjyw_mondo_relaxed.owl 39800000 33400000 hg38 owl:Class MONDO:0014451 biolink:NamedThing focal segmental glomerulosclerosis 7 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene. tmpaxzxjjyw_mondo_relaxed.owl glomerulosclerosis, focal segmental, 7|focal segmental glomerulosclerosis caused by mutation in PAX2|FSGS7|focal segmental glomerulosclerosis type 7|PAX2 focal segmental glomerulosclerosis|focal segmental glomerulosclerosis 7 UMLS:C4014925|DOID:0111132|OMIM:616002|ICD10:N04.1|Orphanet:656 owl:Class HGNC:8616 biolink:NamedThing PAX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100092 biolink:NamedThing myoclonus, familial, 2 Familial cortical myoclonus caused by heterozygous mutation in the SCN8A gene on chromosome 12q13. tmpaxzxjjyw_mondo_relaxed.owl MYOCL2 OMIM:618364 http://orcid.org/0000-0001-5208-3432 owl:Class CL:1000437 biolink:NamedThing epithelial cell of nasolacrimal duct An epithelial cell that is part of the nasolacrimal duct. tmpaxzxjjyw_mondo_relaxed.owl FMA:70561 cell owl:Class CHEBI:17087 biolink:NamedThing ketone A compound in which a carbonyl group is bonded to two carbon atoms: R2C=O (neither R may be H). tmpaxzxjjyw_mondo_relaxed.owl Keton|ketones|a ketone|cetone|Ketone|R-CO-R' owl:Class MONDO:0000156 biolink:NamedThing trigonocephaly tmpaxzxjjyw_mondo_relaxed.owl trigonocephaly, isolated|trigonocephalus|trigonocephaly|trigonocephalia SCTID:28740008 owl:Class HP:0000243 biolink:NamedThing Trigonocephaly Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. tmpaxzxjjyw_mondo_relaxed.owl Wedge shaped head|Triangular skull shape|Triangular head shape|Triangular cranium shape|Wedge shaped skull|Wedge shaped cranium UMLS:C4280666|UMLS:C0265535|SNOMEDCT_US:28740008|MSH:D003398|UMLS:C4280665 This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture. human_phenotype owl:Class MONDO:0008378 biolink:NamedThing retinitis pigmentosa 9 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP9 gene. tmpaxzxjjyw_mondo_relaxed.owl RP9|retinitis pigmentosa type 9|retinitis pigmentosa caused by mutation in RP9|retinitis pigmentosa 9|RP9 retinitis pigmentosa|RP 9 DOID:0110387|OMIM:180104|MESH:C566716|ICD10:H35.5|GARD:0010382|UMLS:C1867300 https://rarediseases.info.nih.gov/diseases/10382/retinitis-pigmentosa-9 owl:Class NCBITaxon:12542 biolink:NamedThing Omsk hemorrhagic fever virus tmpaxzxjjyw_mondo_relaxed.owl Omsk haemorrhagic fever virus OHF|Omsk haemorrhagic fever virus GC_ID:1 ncbi_taxonomy owl:Class GO:0031987 biolink:NamedThing locomotion involved in locomotory behavior Self-propelled movement of a cell or organism from one location to another in a behavioral context; the aspect of locomotory behavior having to do with movement. tmpaxzxjjyw_mondo_relaxed.owl locomotion during locomotory behaviour owl:Class UBERON:0001222 biolink:NamedThing right ureter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019478 biolink:NamedThing adult nodular lymphocyte predominant Hodgkin lymphoma A nodular lymphocyte predominant Hodgkin lymphoma occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl adult nodular lymphocyte predominant Hodgkin's disease|adult nodular lymphocyte predominant Hodgkin's lymphoma|adult NLPHD|nodular lymphocyte predominant Hodgkin lymphoma MEDGEN:231044|NCIT:C7942|UMLS:C1332210 owl:Class MONDO:0013050 biolink:NamedThing lethal polymalformative syndrome, Boissel type tmpaxzxjjyw_mondo_relaxed.owl GDFD|growth retardation, developmental delay, and facial dysmorphism OMIM:612938|Orphanet:210144|MESH:C567856|ICD10:Q87.8 owl:Class HGNC:24678 biolink:NamedThing FTO tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013269 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 91 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive type 91|autosomal recessive nonsyndromic deafness type 91|SERPINB6 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 91|deafness, autosomal recessive 91|autosomal recessive deafness 91|autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6|DFNB91 OMIM:613453|UMLS:C3150704|ICD10:H90.3|DOID:0110536 owl:Class HGNC:8950 biolink:NamedThing SERPINB6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:428 biolink:NamedThing ALMS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005505 biolink:NamedThing dysembryoplastic neuroepithelial tumor A benign glial-neuronal neoplasm. It is usually supratentorial, located, generally, in the cortex and occurs in children and young adults with a long-standing history of partial seizures. A histologic hallmark of this tumor is the 'specific glioneuronal element', characterized by columns, made up of bundles of axons, oriented perpendicularly to the cortical surface.B tmpaxzxjjyw_mondo_relaxed.owl dysembryoplastic neuroepithelial tumor (morphologic abnormality)|DNT|DNET|dysembryoplastic neuroepithelial neoplasm EFO:0005551|SCTID:87211000119104|ICDO:9413/0|ONCOTREE:DNT|NCIT:C9505|DOID:2679|UMLS:C1266177|GARD:0010640|Orphanet:251946 https://rarediseases.info.nih.gov/diseases/10640/dysembryoplastic-neuroepithelial-tumor owl:Class HGNC:9942 biolink:NamedThing PRPH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010140 biolink:NamedThing isolated thyrotropin-releasing hormone deficiency Hypothyroidism due to dysfunction of the hypothalamus, assumed to result in reduced secretion of thyrotropin- releasing hormone. tmpaxzxjjyw_mondo_relaxed.owl isolated TSH-releasing factor deficiency|isolated TRH deficiency|isolated thyrotropin-releasing factor deficiency|isolated TRF deficiency|hypothalamic hypothyroidism|isolated thyroliberin deficiency|thyrotropin-releasing hormone deficiency|TRH deficiency|isolated protirelin deficiency|isolated prothyroliberin deficiency|tertiary hypothyroidism Orphanet:238670|OMIM:275120|ICD10:E03.1|NCIT:C121741|SCTID:10736002|ICD9:253.4 owl:Class CHEBI:33252 biolink:NamedThing atomic nucleus A nucleus is the positively charged central portion of an atom, excluding the orbital electrons. tmpaxzxjjyw_mondo_relaxed.owl Kern|nuclei|noyau|nucleo atomico|nucleus atomi|nucleus|Atomkern|noyau atomique|nucleo owl:Class CHEBI:33253 biolink:NamedThing nucleon Heavy nuclear particle: proton or neutron. tmpaxzxjjyw_mondo_relaxed.owl nucleon|nucleons|Nukleonen|Nukleon owl:Class MONDO:0013455 biolink:NamedThing hypertrophic cardiomyopathy 16 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYOZ2 gene. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic cardiomyopathy type 16|cardiomyopathy, familial hypertrophic, type 16|cardiomyopathy, familial hypertrophic, 16|CMH16|MYOZ2 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy caused by mutation in MYOZ2|cardiomyopathy familial hypertrophic 16 DOID:0110322|UMLS:C3151204|OMIM:613838 owl:Class HGNC:1330 biolink:NamedThing MYOZ2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017298 biolink:NamedThing acute zonal occult outer retinopathy Acute zonal occult outer retinopathy (AZOOR) is a rare condition that affects the eyes. People with this condition may experience a sudden onset of photopsia (the presence of perceived flashes of light) and an area of partial vision loss (a blindspot). Other symptoms may include 'whitening of vision' or blurred vision. Although anyone can be affected, the condition is most commonly diagnosed in young women (average age 36.7 years). The underlying cause of AZOOR is currently unknown; however, some researchers have proposed that infectious agents (such as viruses) or autoimmunity may play a role in the development of the condition. No treatment has been proven to improve the visual outcome of AZOOR; however, systemic corticosteroids are the most commonly used therapy. tmpaxzxjjyw_mondo_relaxed.owl AZOOR SCTID:312929003|GARD:0008640|MESH:C538223|UMLS:C0730298|Orphanet:284454|ICD9:362.10 https://rarediseases.info.nih.gov/diseases/8640/acute-zonal-occult-outer-retinopathy owl:Class HGNC:9302 biolink:NamedThing PPP2R1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6008 biolink:NamedThing IL2RA tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004773 biolink:NamedThing steryl-sulfatase activity Catalysis of the reaction: 3-beta-hydroxyandrost-5-en-17-one 3-sulfate + H2O = 3-beta-hydroxyandrost-5-en-17-one + sulfate. tmpaxzxjjyw_mondo_relaxed.owl dehydroepiandrosterone sulfatase activity|steroid sulfatase activity|dehydroepiandrosterone sulfate sulfatase activity|steryl-sulphatase activity|sterol sulfatase activity|steryl-sulfate sulfohydrolase activity|pregnenolone sulfatase activity|phenolic steroid sulfatase activity|3-beta-hydroxysteroid sulfate sulfatase activity|arylsulfatase C activity|steroid 3-sulfatase activity|steroid sulfate sulfohydrolase activity owl:Class UBERON:0002802 biolink:NamedThing left parietal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008197 biolink:NamedThing parietal foramina 1 Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene. tmpaxzxjjyw_mondo_relaxed.owl parietal foramina 1|cranium bifidum occultum|PFM1|foramina parietalia permagna|MSX2 parietal foramina|cranium bifidum, hereditary|parietal foramina, symmetric|parietal foramina caused by mutation in MSX2|PFM|catlin Marks|parietal foramina Orphanet:60015|OMIM:168500 owl:Class UBERON:0009883 biolink:NamedThing medullary ray tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011233 biolink:NamedThing Axenfeld-Rieger syndrome type 3 Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene. tmpaxzxjjyw_mondo_relaxed.owl Rieger anomaly|Axenfeld-Rieger syndrome, type 3|Axenfeld-Rieger anomaly with Cardiac defects and/Or sensorineural hearing loss|anterior chamber Cleavage syndrome|anterior chamber cleavage syndrome|Rieger syndrome, type 3|Axenfeld-Rieger syndrome caused by mutation in FOXC1|Axenfeld-Rieger anomaly with or without Cardiac defects and/or sensorineural hearing loss|Axenfeld-Rieger anomaly|Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss|RIEG3|FOXC1 Axenfeld-Rieger syndrome|Rieger syndrome type 3|anterior segment mesenchymal dysgenesis|Axenfeld-Rieger syndrome type 3|Axenfeld anomaly Orphanet:91483|OMIM:602482|Orphanet:782|DOID:0110122|Orphanet:98978|SCTID:22155002|ICD10:Q13.8|ICD9:743.44 Editor note: check relationship to MONDO:0007138 owl:Class MONDO:0014229 biolink:NamedThing microphthalmia, syndromic 12 Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome. tmpaxzxjjyw_mondo_relaxed.owl MCOPS12|syndromic microphthalmia caused by mutation in RARB|microphthalmia, syndromic 12|microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or Cardiac defects|syndromic microphthalmia-12|RARB syndromic microphthalmia|microphthalmia, syndromic type 12 Orphanet:2470|UMLS:C3809803|OMIM:615524|GARD:0013235 https://rarediseases.info.nih.gov/diseases/13235/syndromic-microphthalmia-12 owl:Class UBERON:0035034 biolink:NamedThing eyelid epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011165 biolink:NamedThing glomerulopathy with fibronectin deposits 2 Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene. tmpaxzxjjyw_mondo_relaxed.owl GFND2|fibronectin glomerulopathy|glomerulopathy with fibronectin deposits type 2|FN1 fibronectin glomerulopathy|glomerular nephritis familial with fibronectin deposits|fibronectin glomerulopathy caused by mutation in FN1|glomerular nephritis, familial, with fibronectin deposits|glomerulopathy with fibronectin deposits 2 GARD:0009914|SCTID:722759007|OMIM:601894|Orphanet:84090 owl:Class HGNC:3778 biolink:NamedThing FN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7523 biolink:NamedThing TRIM37 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NBO:0000433 biolink:NamedThing withdrawal reflex "A reflex where the body reacts to pain or unpleasant stimuli by trying to move itself away from the source." [NBO:GVG] tmpaxzxjjyw_mondo_relaxed.owl flexor withdrawal reflex|nociceptive reflex owl:Class MONDO:0001041 biolink:NamedThing dentin caries A dental caries that involves the dentine. tmpaxzxjjyw_mondo_relaxed.owl compound dental caries|dental caries of dentine|dentine dental caries|dental caries extending into dentine DOID:10461|ICD10:K02.1|UMLS:C0266846|SCTID:442551007|ICD9:521.02 owl:Class MONDO:0004329 biolink:NamedThing pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that exhibit loss of polarity, nuclear stratification, hyperchromasia, and pleomorphism. There is severe architectural atypia and frequent mitotic figures present. tmpaxzxjjyw_mondo_relaxed.owl pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia|pancreatic intraductal papillary mucinous neoplasm with high grade dysplasia|pancreatic non-invasive intraductal papillary-mucinous carcinoma ICDO:8453/2|NCIT:C41251|DOID:7685|UMLS:C1518873 owl:Class HP:0011002 biolink:NamedThing Osteopetrosis Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. tmpaxzxjjyw_mondo_relaxed.owl Albers-Schoenberg disease|Albers-Schönberg disease|Albers-Schonberg disease|Harder, denser, fracture-prone bones|Marble bone disease SNOMEDCT_US:1926006|SNOMEDCT_US:367489004|MSH:D010022|UMLS:C0029454 sdoelken 2011-02-13T11:58:36Z human_phenotype owl:Class UBERON:0011241 biolink:NamedThing ethmoid region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013058 biolink:NamedThing cystic leukoencephalopathy without megalencephaly Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl CLWM|RNAse T2-deficient leukoencephalopathy|leukoencephalopathy, cystic, without megalencephaly UMLS:C2751843|GARD:0013199|ICD10:E75.2|SCTID:720825005|OMIM:612951|Orphanet:85136|MESH:C567845 owl:Class MONDO:0013823 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 4B Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant type 4B|autosomal dominant deafness 4B|autosomal dominant nonsyndromic deafness type 4B|autosomal dominant nonsyndromic deafness 4B|deafness, autosomal dominant 4B|autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16|CEACAM16 autosomal dominant nonsyndromic deafness|DFNA4B DOID:0110574|ICD10:H90.3|OMIM:614614|UMLS:C3281297 owl:Class MONDO:0013826 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 86 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene. tmpaxzxjjyw_mondo_relaxed.owl TBC1D24 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 86|DFNB86|autosomal recessive deafness 86|autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24|deafness, autosomal recessive type 86|autosomal recessive nonsyndromic deafness type 86|deafness, autosomal recessive 86 Orphanet:90636|ICD10:H90.3|OMIM:614617|DOID:0110532|UMLS:C2829265 owl:Class HGNC:29203 biolink:NamedThing TBC1D24 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0026386 biolink:NamedThing lumbar spinal cord white matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6891 biolink:NamedThing MAPRE2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:23004 biolink:NamedThing carbamoyl group The univalent carboacyl group formed by loss of -OH from the carboxy group of carbamic acid. tmpaxzxjjyw_mondo_relaxed.owl carbamoyl|aminocarbonyl|carboxamide|-CONH2|-C(O)NH2|carbamyl|carbamyl group owl:Class HGNC:10274 biolink:NamedThing RP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005354 biolink:NamedThing chronic hepatitis C virus infection Chronic form of hepatitis C infection. tmpaxzxjjyw_mondo_relaxed.owl hepatitis C, chronic|chronic Hepatitis C|hepatitis C infection, chronic EFO:0004220|SCTID:128302006|ICD9:070.44|MESH:D019698 owl:Class MONDO:0010295 biolink:NamedThing anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. tmpaxzxjjyw_mondo_relaxed.owl OLEDAID|ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema|ol-EDA-ID MESH:C564538|OMIM:300301|ICD10:Q78.2|Orphanet:69088|SCTID:720986005 owl:Class MONDO:0014220 biolink:NamedThing myopathy due to myoadenylate deaminase deficiency tmpaxzxjjyw_mondo_relaxed.owl adenosine monophosphate deaminase deficiency|AMP deaminase deficiency|AMP deaminase 1 deficiency|myopathy due to myoadenylate deaminase deficiency|MMDD|AMPD1 deficiency|adenosine monophosphate deaminase 1 deficiency|myoadenylate deaminase deficiency, myopathy due to|adenosine monophosphate deaminase-1 deficiency, myopathy due to|myoadenylate deaminase deficiency Orphanet:45|GARD:0000547|OMIM:615511 https://rarediseases.info.nih.gov/diseases/547/adenosine-monophosphate-deaminase-1-deficiency owl:Class HGNC:468 biolink:NamedThing AMPD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1001602 biolink:NamedThing cerebral cortex endothelial cell Endothelial cells forming the walls of the capillaries within the cerebral cortex. tmpaxzxjjyw_mondo_relaxed.owl endothelial cells of cerebral cortex|cerebral cortex endothelial cells CALOHA:TS-2372 owl:Class MONDO:0004586 biolink:NamedThing rheumatoid lung disease Rheumatoid lung disease is a group of lung problems related to rheumatoid arthritis. tmpaxzxjjyw_mondo_relaxed.owl rheumatoid lung UMLS:C0994344|DOID:849|SCTID:398726004|ICD9:714.81 owl:Class MONDO:0014868 biolink:NamedThing developmental and epileptic encephalopathy, 38 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene. tmpaxzxjjyw_mondo_relaxed.owl early infantile epileptic encephalopathy caused by mutation in ARV1|epileptic encephalopathy, early infantile, 38|DEE38|ARV1 early infantile epileptic encephalopathy|EIEE38|epileptic encephalopathy, early infantile, type 38|epileptic encephalopathy, early infantile, 38; EIEE38 DOID:0080417|UMLS:C4310762|OMIM:617020 owl:Class HGNC:29561 biolink:NamedThing ARV1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17073 biolink:NamedThing ARHGAP26 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010135 biolink:NamedThing sensory circumventricular organ tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024325 biolink:NamedThing cutaneous glomangiomyoma A glomangiomyoma that involves the zone of skin. tmpaxzxjjyw_mondo_relaxed.owl zone of skin glomangiomyoma|glomangiomyoma of skin SCTID:403971002|UMLS:C1275227|ICD9:227.6 owl:Class HGNC:11278 biolink:NamedThing SPTLC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004679 biolink:NamedThing leukoplakia of vagina Leukoplakia of the vagina. tmpaxzxjjyw_mondo_relaxed.owl vaginal leukoplakia|leukoplakia of the vagina NCIT:C3663|UMLS:C0156385|SCTID:111420009|ICD10:N89.4|DOID:8920|ICD9:623.1 owl:Class MONDO:0009516 biolink:NamedThing absence deformity of leg-cataract syndrome Absence deformity of leg B cataract is a very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed. tmpaxzxjjyw_mondo_relaxed.owl leg, absence deformity of, with congenital cataract MESH:C565442|OMIM:246000|UMLS:C1855523|Orphanet:2310 owl:Class HGNC:28557 biolink:NamedThing KLHDC8B tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007613 biolink:NamedThing memory The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:157541 biolink:NamedThing Zygodontomys brevicauda tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:2917 biolink:NamedThing DLX4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004926 biolink:NamedThing submucosa of cystic duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1001577 biolink:NamedThing tonsil squamous cell Squamous cell of tonsil epithelium. tmpaxzxjjyw_mondo_relaxed.owl tonsil squamous epithelial cells|tonsil squamous epithelial cell|tonsillar squamous cell|tonsillar squamous epithelial cell CALOHA:TS-1253 owl:Class MONDO:0003896 biolink:NamedThing breast capillary hemangioma A capillary hemangioma arising from the breast. tmpaxzxjjyw_mondo_relaxed.owl capillary angioma of the breast|capillary hemangioma of breast|capillary hemangioma of the breast|breast capillary hemangioma|breast capillary angioma|capillary angioma of breast UMLS:C1332619|NCIT:C5210|DOID:6491 owl:Class UBERON:0035118 biolink:NamedThing material entity in digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0001082 biolink:NamedThing immature innate lymphoid cell An innate lyphoid cell with an immature phenotype. tmpaxzxjjyw_mondo_relaxed.owl immature ILC owl:Class HGNC:188 biolink:NamedThing ADAM10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003370 biolink:NamedThing retroperitoneal leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl retroperitoneal leiomyosarcoma|retroperitoneal space leiomyosarcoma|leiomyosarcoma of retroperitoneal space NCIT:C27904|UMLS:C2187547|DOID:5284 owl:Class MONDO:0012359 biolink:NamedThing combined immunodeficiency due to partial RAG1 deficiency A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. tmpaxzxjjyw_mondo_relaxed.owl combined immunodeficiency with expansion of gamma delta T cells|alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity|CID due to partial RAG1 deficiency|CID with expansion of gamma delta T cells UMLS:C4510944|Orphanet:231154|OMIM:609889|ICD10:D81.8|SCTID:725290000|MESH:C563691|UMLS:C1835931 owl:Class HGNC:9831 biolink:NamedThing RAG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000892 biolink:NamedThing colon medullary carcinoma A rare, invasive colon adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. tmpaxzxjjyw_mondo_relaxed.owl medullary colon carcinoma|medullary carcinoma of the colon|colon medullary carcinoma DOID:0080183|ONCOTREE:CMC|UMLS:C1880119|NCIT:C60641 owl:Class HGNC:2063 biolink:NamedThing CLIC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023579 biolink:NamedThing Kuster Majewski Hammerstein syndrome tmpaxzxjjyw_mondo_relaxed.owl alopecia, macular degeneration, and growth retardation|alopecia macular degeneration growth retardation GARD:0003151|MESH:C538125|UMLS:C2931740 Editor note: consider merging with MONDO:0021849 https://rarediseases.info.nih.gov/diseases/3151/kuster-majewski-hammerstein-syndrome owl:Class HGNC:23198 biolink:NamedThing CYP4V2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12335 biolink:NamedThing TRPC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class Na832f3280b4e439e8dd902677a300254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0048515 biolink:NamedThing spermatid differentiation The process whose specific outcome is the progression of a spermatid over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. tmpaxzxjjyw_mondo_relaxed.owl spermatid cell differentiation owl:Class UBERON:0005309 biolink:NamedThing pronephric nephron tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001705 biolink:NamedThing ectoderm formation The formation of ectoderm during gastrulation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6945 biolink:NamedThing Ixodes scapularis tmpaxzxjjyw_mondo_relaxed.owl Ixodes dammini|shoulder tick|deer tick|blacklegged tick|black-legged tick GC_ID:1 NCBITaxon:2528633|NCBITaxon:29929 ncbi_taxonomy owl:Class CHEBI:35623 biolink:NamedThing anticonvulsant A drug used to prevent seizures or reduce their severity. tmpaxzxjjyw_mondo_relaxed.owl anti-convulsive agent|anti-convulsant|antiepileptique|Antiepileptikum|Antikonvulsiva|antiepileptic|antiepileptics|anticonvulsive agent|anti-convulsive agents|anticonvulsants|anticonvulsive agents|Antikonvulsivum|Antiepileptika|anti-convulsants|antiepileptiques owl:Class MONDO:0015298 biolink:NamedThing pellucid marginal degeneration tmpaxzxjjyw_mondo_relaxed.owl ICD10:H18.7|Orphanet:137672|UMLS:CN199253|GARD:0011895 https://rarediseases.info.nih.gov/diseases/11895/pellucid-marginal-degeneration owl:Class HGNC:6717 biolink:NamedThing LTBP4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr9q22 biolink:NamedThing 9q22 (Human) tmpaxzxjjyw_mondo_relaxed.owl 99800000 87800000 hg38 owl:Class MONDO:0001209 biolink:NamedThing common wart A wart caused by human papillomavirus. It can appear anywhere on the skin. tmpaxzxjjyw_mondo_relaxed.owl viral Warts|viral wart|verruca vulgaris|viral Warts due to papilloma virus|common wart|wart ICD10:B07|ICD9:078.1|DOID:11165|UMLS:C0043037|ICD9:078.19|ICD9:078.10|NCIT:C27087|SCTID:57019003|MESH:D014860|ICD10:B07.8 owl:Class HGNC:11733 biolink:NamedThing TEX11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1092 biolink:NamedThing FOXL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010516 biolink:NamedThing midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis tmpaxzxjjyw_mondo_relaxed.owl midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN|MFHIEN|midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis OMIM:300990|UMLS:C4310810 owl:Class HGNC:467 biolink:NamedThing AMMECR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33290 biolink:NamedThing food Any material that can be ingested by an organism.|A physiological role played by any substance of either plant, animal or artificial origin which contains essential body nutrients that can be ingested by an organism to provide energy, promote growth, and maintain the processes of life. tmpaxzxjjyw_mondo_relaxed.owl foodstuff|foods|foodstuffs|food role|food materials|food material owl:Class ENVO:01000845 biolink:NamedThing crystal A solid material whose constituents, such as atoms, molecules or ions, are arranged in a highly ordered microscopic structure, forming a crystal lattice that extends in all directions. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000326 biolink:NamedThing ileal goblet cell A goblet cell that is part of the epithelium proper of ileum. tmpaxzxjjyw_mondo_relaxed.owl goblet cell of epithelium proper of ileum FMA:263067 cell owl:Class Nd92508cc69364428bde941e39154f80a biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004435 biolink:NamedThing liver fibrosarcoma A usually aggressive malignant neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpaxzxjjyw_mondo_relaxed.owl fibrosarcoma of liver|hepatic fibrosarcoma|liver fibrosarcoma (disease)|liver fibrosarcoma|fibrosarcoma of the liver UMLS:C1333966|NCIT:C5832|DOID:8022 owl:Class MONDO:0008540 biolink:NamedThing extensor tendons of finger anomalies tmpaxzxjjyw_mondo_relaxed.owl anomalous insertion of extensor tendons of fingers|tendons, extensor, of fingers, anomalous insertion OF|Hapnes-Boman-Skeie syndrome|Hapnes Boman Skeie syndrome GARD:0002597|MESH:C566068|Orphanet:3294|OMIM:187390|UMLS:C2931376 owl:Class MONDO:0011998 biolink:NamedThing autosomal dominant slowed nerve conduction velocity Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene. tmpaxzxjjyw_mondo_relaxed.owl slowed nerve conduction velocity, autosomal dominant|SNCV|autosomal dominant slowed nerve conduction velocity OMIM:608236|MESH:C564269|ICD10:G60.0|SCTID:764854006|Orphanet:140481|UMLS:C1842357 owl:Class HP:0000520 biolink:NamedThing Proptosis An eye that is protruding anterior to the plane of the face to a greater extent than is typical. tmpaxzxjjyw_mondo_relaxed.owl Eyeballs bulging out|Anterior bulging of the globe of eye|Anterior bulging of the globe|Bulging eye|Ocular proptosis|Protrusio bulbi|Prominent eyes|Protruding eyes|Exophthalmos|Prominent globes UMLS:C1837760|UMLS:C1862425|SNOMEDCT_US:18265008|UMLS:C1848490|MSH:D005094|UMLS:C0015300 Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. HP:0000644|HP:0007711|HP:0000536|HP:0000645|HP:0007870 human_phenotype owl:Class MONDO:0011928 biolink:NamedThing caudal duplication Caudal duplication (CD) is a rare developmental anomaly in which structures derived from the embryonic cloaca and notochord are duplicated to varying extents. tmpaxzxjjyw_mondo_relaxed.owl caudal DUPLICATION anomaly|dipygus|split notochord syndrome SCTID:71464000|MESH:C564315|GARD:0001164|UMLS:C1842884|ICD10:Q87.8|OMIM:607864|Orphanet:1756 https://rarediseases.info.nih.gov/diseases/1164/caudal-duplication owl:Class HGNC:903 biolink:NamedThing AXIN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002619 biolink:NamedThing bone fibrosarcoma A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern. tmpaxzxjjyw_mondo_relaxed.owl fibrosarcoma of bone|bone tissue fibrosarcoma (disease)|bone fibrosarcoma|fibrosarcoma of the bone DOID:3354|NCIT:C6604|UMLS:C2733623 owl:Class HP:0030718 biolink:NamedThing Right atrial enlargement Increase in size of the right atrium. tmpaxzxjjyw_mondo_relaxed.owl Right atrial dilatation|Enlarged heart right atrium|Dilated right atrium UMLS:C0748427|SNOMEDCT_US:67751000119106|Fyler:2859|Fyler:1771 This feature can be appreciated on chext radiography, MRI, or CT. human_phenotype owl:Class MONDO:0013042 biolink:NamedThing atypical hemolytic-uremic syndrome with B factor anomaly tmpaxzxjjyw_mondo_relaxed.owl aHUS, susceptibility to, 4|hemolytic uremic syndrome, atypical, susceptibility to, type 4|hemolytic-uremic syndrome without diarrhea with B factor anomaly|aHUS4|D-HUS with B factor anomaly|AHUS4|atypical HUS with B factor anomaly|susceptibility to atypical hemolytic uremic syndrome 4|aHUS with B factor anomaly|hemolytic uremic syndrome, atypical, susceptibility to, 4 Orphanet:2134|ICD10:D58.8|Orphanet:93578|OMIM:612924 owl:Class HGNC:1037 biolink:NamedThing CFB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013112 biolink:NamedThing bronchiectasis with or without elevated sweat chloride 3 Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene. tmpaxzxjjyw_mondo_relaxed.owl bronchiectasis with or without elevated sweat chloride 3|BESC3|bronchiectasis caused by mutation in SCNN1G|cystic fibrosis-like syndrome|SCNN1G bronchiectasis|bronchiectasis with or without elevated sweat chloride type 3 Orphanet:60033|DOID:0080528|OMIM:613071|UMLS:C2751324|MESH:C567772 owl:Class MONDO:0014733 biolink:NamedThing Charcot-Marie-Tooth disease type 4K SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy of hands and feet, distal sensory impairment (vibration and pinprick) of lower limbs, lactic acidosis, areflexia and severely reduced motor nerve conduction velocities (25 m/s or less). Patients may also present kyphoscoliosis, nystagmus, hearing loss, cerebellar ataxia and/or brain MRI abnormalities (putaminal and periaqueductal lesions). tmpaxzxjjyw_mondo_relaxed.owl SURF1 Charcot-Marie-Tooth disease type 4|autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K|Charcot-Marie-Tooth disease type 4K|SURF1-related Charcot-Marie-Tooth disease type 4|autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K|SURF1-related CMT4|Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K|Charcot-Marie-Tooth disease, type 4K|Charcot-Marie-Tooth disease type 4 caused by mutation in SURF1|Charcot-Marie-Tooth disease, type 4k|CMT4K|SURF1-related severe demyelinating Charcot-Marie-Tooth disease|Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K Orphanet:391351|OMIM:616684|UMLS:C4225246|ICD10:G60.0|SCTID:765047006|DOID:0110187 owl:Class MONDO:0013252 biolink:NamedThing Warsaw breakage syndrome A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. tmpaxzxjjyw_mondo_relaxed.owl Warsaw breakage syndrome|WARSAW breakage syndrome|WABS Orphanet:280558|ICD9:759.89|UMLS:C3150658|DOID:0060535|SCTID:702829000|OMIM:613398 owl:Class HGNC:2736 biolink:NamedThing DDX11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012022 biolink:NamedThing orofacial cleft 4 tmpaxzxjjyw_mondo_relaxed.owl cleft lip with or without cleft palate, nonsyndromic, 4|orofacial cleft 4|OFC4 DOID:0080398|OMIM:608371|UMLS:C1842143|MESH:C564251|Orphanet:1991 owl:Class MONDO:0060778 biolink:NamedThing adult Fanconi syndrome Probably related to a recessive gene, this is Fanconi Syndrome, characterised by adult onset. tmpaxzxjjyw_mondo_relaxed.owl adult Fanconi's syndrome|adult Fanconi syndrome NCIT:C4377 owl:Class UBERON:0004831 biolink:NamedThing esophagus skeletal muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr14q22-q23 biolink:NamedThing 14q22-q23 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0001001 biolink:NamedThing baritosis A rare type of pneumoconiosis caused by long standing exposure to barium dust. It is characterized by the formation of fine dense lesions in the lung parenchyma. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. tmpaxzxjjyw_mondo_relaxed.owl deposition of barium in the lungs|inhalation of barytes GARD:0008371|SCTID:50076003|DOID:10321|NCIT:C34410|UMLS:C0340177|ICD9:503|MESH:C537080 Editor note: request term from ENVO https://rarediseases.info.nih.gov/diseases/8371/baritosis owl:Class MONDO:0008837 biolink:NamedThing ataxia, deafness, and cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl ataxia, deafness, and cardiomyopathy MESH:C565932|UMLS:C1859645|OMIM:208750 owl:Class MONDO:0016042 biolink:NamedThing late-onset isolated ACTH deficiency Late-onset isolated ACTH deficiency is a rare, acquired, pituitary hormone deficiency characterized by secondary adrenal insufficiency, with normal secretion of anterior pituitary hormones, except for ACTH. Patients present with weakness, fatigue, weight loss, anorexia, vomiting/nausea, hypoglycemia, and abnormally low serum ACTH and cortisol levels. Association with autoimmune disease such as Hashimoto's thyroiditis has been described. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E23.6|Orphanet:199299 owl:Class MONDO:0019311 biolink:NamedThing woolly hair nevus Woolly hair nevus (WHN) is a rare non-familial hair anomaly characterized by kinky, tightly coiled, and hypopigmented fine hair with an average diameter of 0.5 cm, noted, since birth or during the first two years of life, in a localized circumscribed distribution on the scalp. Occassionally, WHN grows in areas observed to be alopecic in the neonatal period. WHN can be associated with features like ocular defects (persistent pupillary membrane, retinal defects), precocious puberty, and epidermal nevi. tmpaxzxjjyw_mondo_relaxed.owl wooly hair nevus SCTID:239124001|Orphanet:79414|ICD10:D23.4|UMLS:C0343114|OMIM:162900 owl:Class UBERON:0007589 biolink:NamedThing ciliated columnar oviduct epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017599 biolink:NamedThing splenic diffuse red pulp small B-cell lymphoma Splenic diffuse red pulp small B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma characterized by abnormal proliferation of small, monomorphous, basophilic B-lymphocytes, with villous cytoplasm, in the splenic red pulp, bone marrow and peripheral blood. It typically presents in the late clinical stages with splenomegaly and moderate lymphocytosis. Cytopenias are rare and likely associated with hypersplenism. tmpaxzxjjyw_mondo_relaxed.owl SDRPL|splenic diffuse red pulp lymphoma ICD10:C83.0|ICDO:9591/3|UMLS:C2699508|SCTID:763884007|Orphanet:300869|ONCOTREE:SDRPL|NCIT:C80309 owl:Class MONDO:0100232 biolink:NamedThing psoriatic arthritis, susceptibility to An inherited susceptibility or predisposition to developing psoriatic arthritis. tmpaxzxjjyw_mondo_relaxed.owl psoriatic arthritis, susceptibility|psoriatic arthritis, susceptibility to owl:Class MONDO:0013317 biolink:NamedThing torsade-de-pointes syndrome with short coupling interval Torsade-de-pointes (TdP) syndrome with short coupling interval is a very rare variant of Torsade de pointes, a polymorphic ventricular tachycardia, which is characterized by a short coupling interval of the first TdP beat on electrocardiogram in the absence of any structural heart disease. It manifests in early adulthood with syncope, often results in ventricular fibrillation and shows a high risk of sudden cardiac death. tmpaxzxjjyw_mondo_relaxed.owl torsade DE pointes, short-coupled variant SCTID:718104007|OMIM:613600|ICD10:I49.8|UMLS:C3150851|Orphanet:51084 owl:Class MONDO:0022174 biolink:NamedThing chromosome 12p deletion A cytogenetic abnormality that refers to the allelic loss of all or part of the short arm of chromosome 12. tmpaxzxjjyw_mondo_relaxed.owl partial deletion of chromosome 12p|12p del|partial monosomy 12p|12p-|12p monosomy|partial monosomy of the short arm of chromosome 12|partial deletion of the short arm of chromosome 12|del(12p)|partial deletion of the short arm of chromosome type 12|deletion 12p|12p deletion|partial monosomy of chromosome 12p|loss of chromosome 12p|monosomy 12p GARD:0006068|NCIT:C36410|ICD10:Q93.5|MESH:C538302|Orphanet:316244|MESH:C538301|UMLS:C0795844 https://rarediseases.info.nih.gov/diseases/6068/chromosome-12p-deletion owl:Class UBERON:0004184 biolink:NamedThing prostate gland stroma tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014183 biolink:NamedThing myopia 23, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl myopia 23, autosomal recessive|MYP23 UMLS:C3809482|OMIM:615431|Orphanet:98619 owl:Class GO:0032990 biolink:NamedThing cell part morphogenesis The process in which the anatomical structures of a cell part are generated and organized. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032989 biolink:NamedThing cellular component morphogenesis The process in which cellular structures, including whole cells or cell parts, are generated and organized. tmpaxzxjjyw_mondo_relaxed.owl cellular structure morphogenesis owl:Class MONDO:0000943 biolink:NamedThing acute hydrops keratoconus tmpaxzxjjyw_mondo_relaxed.owl keratoconus, acute hydrops|acute corneal hydrops|acute hydrops of cornea UMLS:C0339286|SCTID:111523009|DOID:10125|ICD9:371.62 owl:Class GO:0016881 biolink:NamedThing acid-amino acid ligase activity Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpaxzxjjyw_mondo_relaxed.owl peptide synthase activity owl:Class MONDO:0020794 biolink:NamedThing colorectal medullary carcinoma A rare, invasive colorectal adenocarcinoma characterized by the presence of sheets of malignant epithelial cells with vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It usually has a favorable prognosis. tmpaxzxjjyw_mondo_relaxed.owl colorectal medullary carcinoma NCIT:C43590 owl:Class MONDO:0044320 biolink:NamedThing retinitis pigmentosa 79 tmpaxzxjjyw_mondo_relaxed.owl RP79|retinitis pigmentosa 79 Orphanet:791|UMLS:C4479526|OMIM:617460 owl:Class HP:0011146 biolink:NamedThing Dialeptic seizure A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. tmpaxzxjjyw_mondo_relaxed.owl Behavioral arrest seizure with impairment of awareness irrespective of onset|Unknown onset behavioral arrest seizure with impairment of awareness|Behavioural arrest seizure with impairment of awareness irrespective of onset|Unknown onset behavioural arrest seizure with impairment of awareness The main ictal manifestation of dialeptic seizures is an alteration of consciousness rather than motor or sensory features. The term describes the pure clinical semiology of a seizure and is used independently of the ictal electrographic findings: it could describe a seizure of focal, generalized or unknown onset. In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. 2011-10-18T01:47:30Z human_phenotype owl:Class MONDO:0016161 biolink:NamedThing cerebral gigantism-jaw cysts syndrome Cerebral gigantism-jaw cysts syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome. tmpaxzxjjyw_mondo_relaxed.owl Cramer Niederdellmann syndrome|Cramer-Niederdellmann syndrome|cerebral gigantism jaw cysts SCTID:725418006|UMLS:CN200907|Orphanet:2081|GARD:0001206|ICD10:Q04.8 https://rarediseases.info.nih.gov/diseases/1206/cerebral-gigantism-jaw-cysts owl:Class CHEBI:36347 biolink:NamedThing nuclear particle A nucleus or any of its constituents in any of their energy states. tmpaxzxjjyw_mondo_relaxed.owl nuclear particle owl:Class MONDO:0006304 biolink:NamedThing minor salivary gland adenocarcinoma An adenocarcinoma that arises from the minor salivary glands. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of minor salivary gland|adenocarcinoma of the minor salivary gland UMLS:C1334768|EFO:1000379|NCIT:C5948 owl:Class MONDO:0007199 biolink:NamedThing blepharochalasis, superior tmpaxzxjjyw_mondo_relaxed.owl blepharochalasis, superior UMLS:C1862275|OMIM:110000|MESH:C566223 owl:Class CHEBI:35552 biolink:NamedThing heterocyclic organic fundamental parent tmpaxzxjjyw_mondo_relaxed.owl heterocyclic fundamental parent|heterocyclic parent hydrides|organic heterocyclic fundamental parents|heterocyclic organic fundamental parents owl:Class MONDO:0011588 biolink:NamedThing platelet-type bleeding disorder 12 An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. tmpaxzxjjyw_mondo_relaxed.owl platelet prostaglandin-endoperoxide synthase 1 deficiency|bleeding disorder, platelet-type, 12|platelet COX1 deficiency|PGHS1 deficiency|BDPLT12|prostaglandin-endoperoxide synthase 1 deficiency, platelet|platelet cyclooxygenase 1 deficiency OMIM:605735|DOID:0111058|UMLS:C2751535|MESH:C567786 owl:Class MONDO:0013794 biolink:NamedThing thrombocythemia 3 Familial thrombocytosis in which the cause of the disease is a mutation in the JAK2 gene. tmpaxzxjjyw_mondo_relaxed.owl THCYT3|familial thrombocytosis caused by mutation in JAK2|thrombocythemia 3|thrombocythemia type 3|JAK2 familial thrombocytosis|thrombocytosis 3 OMIM:614521|UMLS:C3281125|Orphanet:3318|Orphanet:71493 https://github.com/monarch-initiative/mondo/issues/230 owl:Class NCIT:C16326 biolink:NamedThing Behavior The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli. tmpaxzxjjyw_mondo_relaxed.owl Conduct|Attitude|Behavior|Behavioral Behavior owl:Class UBERON:0004087 biolink:NamedThing vena cava tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001663 biolink:NamedThing hole retinal cyst tmpaxzxjjyw_mondo_relaxed.owl macular cyst, hole, or pseudohole of retina|macular pseudohole retinal cyst|macular cyst or hole DOID:13214|ICD10:H35.34|SCTID:1079004|UMLS:C1261331|ICD9:362.54 owl:Class MONDO:0002175 biolink:NamedThing degeneration of macula and posterior pole tmpaxzxjjyw_mondo_relaxed.owl degeneration of macula or posterior pole|degeneration of macula and posterior pole of retina SCTID:267611002|DOID:2007|ICD10:H35.3|ICD9:362.5|UMLS:C0339436 owl:Class MONDO:0009625 biolink:NamedThing diencephalic-mesencephalic junction dysplasia syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl recessive microcephaly with spastic quadriplegia|microcephaly with spastic quadriplegia|MISSBC|microcephaly, seizures, spasticity, and brain calcifications|DMJDS1 GARD:0008510|UMLS:C1855055|MESH:C537546|OMIM:251280 https://rarediseases.info.nih.gov/diseases/8510/microcephaly-with-spastic-quadriplegia owl:Class MONDO:0033211 biolink:NamedThing diencephalic-mesencephalic junction dysplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:251280 owl:Class GO:0030854 biolink:NamedThing positive regulation of granulocyte differentiation Any process that activates or increases the frequency, rate or extent of granulocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of granulocyte differentiation|up regulation of granulocyte differentiation|stimulation of granulocyte differentiation|upregulation of granulocyte differentiation|activation of granulocyte differentiation owl:Class MONDO:0022620 biolink:NamedThing CD4 deficiency tmpaxzxjjyw_mondo_relaxed.owl GARD:0009523 https://rarediseases.info.nih.gov/diseases/9523/cd4-deficiency owl:Class CL:0000153 biolink:NamedThing glycosaminoglycan secreting cell A cell that secretes glycosaminoglycans. tmpaxzxjjyw_mondo_relaxed.owl GAG secreting cell|hyaluronic acid secreting cell cell owl:Class CL:0000447 biolink:NamedThing carbohydrate secreting cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class IAO:0000225 biolink:NamedThing obsolescence reason specification The reason for which a term has been deprecated. The allowed values come from an enumerated list of predefined terms. See the specification of these instances for more detailed definitions of each enumerated value. tmpaxzxjjyw_mondo_relaxed.owl The creation of this class has been inspired in part by Werner Ceusters' paper, Applying evolutionary terminology auditing to the Gene Ontology. obsolescence reason specification PERSON: Alan Ruttenberg|PERSON: Melanie Courtot owl:Class MONDO:0013493 biolink:NamedThing acetyl-coa carboxylase deficiency tmpaxzxjjyw_mondo_relaxed.owl ACACAD|Acaca deficiency|Acc1 deficiency|ACETYL-CoA carboxylase deficiency UMLS:C0268603|OMIM:613933|MESH:C562678 owl:Class MONDO:0018647 biolink:NamedThing secondary sclerosing cholangitis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0400978|Orphanet:447774|SCTID:197442005|ICD10:K83.0 owl:Class MONDO:0022545 biolink:NamedThing Barnicoat Baraitser syndrome tmpaxzxjjyw_mondo_relaxed.owl Barnicoat-Baraitser syndrome|polysyndactyly overgrowth syndrome GARD:0000825 Editor note: check ORDO https://rarediseases.info.nih.gov/diseases/825/barnicoat-baraitser-syndrome owl:Class HGNC:7489 biolink:NamedThing MT-TK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008950 biolink:NamedThing cerebral sclerosis similar to Pelizaeus-Merzbacher disease tmpaxzxjjyw_mondo_relaxed.owl cerebral sclerosis similar to Pelizaeus-Merzbacher disease Orphanet:702|OMIM:213900|GARD:0007348|MESH:C536318 https://rarediseases.info.nih.gov/diseases/7348/cerebral-sclerosis-similar-to-pelizaeus-merzbacher-disease owl:Class MONDO:0013097 biolink:NamedThing glioma susceptibility 8 tmpaxzxjjyw_mondo_relaxed.owl glioma susceptibility 8|GLM8 OMIM:613033|Orphanet:182067|UMLS:C2751637 owl:Class CL:0002224 biolink:NamedThing lens epithelial cell A cell of the cuboidal epithelium that covers the lens. The cells of the lens epithelium regulate most of the homeostatic functions of the lens. As ions, nutrients, and liquid enter the lens from the aqueous humor, Na+/K+ ATPase pumps in the lens epithelial cells pump ions out of the lens to maintain appropriate lens osmolarity and volume, with equatorially positioned lens epithelium cells contributing most to this current. The activity of the Na+/K+ ATPases keeps water and current flowing through the lens from the poles and exiting through the equatorial regions. The cells of the lens epithelium also serve as the progenitors for new lens fibers. It constantly lays down fibers in the embryo, fetus, infant, and adult, and continues to lay down fibers for lifelong growth. tmpaxzxjjyw_mondo_relaxed.owl FMA:67559 tmeehan 2010-09-07T10:45:47Z cell owl:Class MONDO:0016425 biolink:NamedThing Hughes-Stovin syndrome Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of BehC'et's disease (BD). It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis. tmpaxzxjjyw_mondo_relaxed.owl SCTID:721226005|ICD10:I28.8|UMLS:CN201382|Orphanet:228116 owl:Class MONDO:0012442 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 66 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 66|DCDC2 autosomal recessive nonsyndromic deafness|DFNB66|deafness, autosomal recessive 66|deafness, autosomal recessive type 66|autosomal recessive deafness 66|autosomal recessive nonsyndromic deafness type 66|autosomal recessive nonsyndromic deafness caused by mutation in DCDC2 UMLS:C1857750|ICD10:H90.3|MESH:C565701|DOID:0110517|OMIM:610212 owl:Class UBERON:0003838 biolink:NamedThing abdominal segment connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010847 biolink:NamedThing spinocerebellar ataxia type 4 Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by ataxia with sensory neuropathy. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy|spinocerebellar ataxia autosomal dominant with sensory axonal neuropathy|SCA4|spinocerebellar ataxia 4 GARD:0009970|ICD10:G11.2|Orphanet:98765|DOID:0050957|SCTID:715755008|UMLS:C0752122|OMIM:600223 owl:Class MONDO:0019094 biolink:NamedThing congenital Epstein-Barr virus infection Congenital Epstein-Barr virus (EBV) infection causes no clinical manifestations in the majority of infants. Indeed, the occurrence of congenital infection with EBV has never been demonstrated conclusively and must be very rare. One case have been reported to present after birth, multiple congenital anomalies (micrognathia, cryptorchidism, central cataracts), dystrophy, generalized hypotonia, hepatosplenomegaly, diffuse petechiae and hematomas and multiple areas of metaphysitis of the long bones at birth. A low birth weight was also reported. No specific follow-up of the fetus is recommended following maternal EBV primary-infection. tmpaxzxjjyw_mondo_relaxed.owl mother-to-child transmission of Epstein-Barr virus infection|antenatal Epstein-Barr virus infection|congenital EBV infection|antenatal EBV infection Orphanet:70596|ICD10:P35.8|SCTID:716660007|UMLS:C4274357 owl:Class MONDO:0018778 biolink:NamedThing intermediate Charcot-Marie-Tooth disease tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease recessive intermediate|Charcot-Marie-Tooth disease dominant intermediate|Charcot-Marie-Tooth disease intermediate type|Intermediate hereditary motor and sensory neuropathy DOID:0050543|Orphanet:476123|UMLS:CN776860 owl:Class MONDO:0018828 biolink:NamedThing pseudo-TORCH syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl pseudo-TORCH syndrome 2|PTORCH2|USP18 deficiency OMIM:617397|UMLS:C4479376|Orphanet:481665 owl:Class MONDO:0007261 biolink:NamedThing Carabelli anomaly of maxillary molar teeth tmpaxzxjjyw_mondo_relaxed.owl Carabelli anomaly of maxillary molar teeth UMLS:C1861897|OMIM:114700|MESH:C566175 owl:Class MONDO:0020740 biolink:NamedThing ectodermal dysplasia and immunodeficiency 1 tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia, anhidrotic, with immune deficiency 1|EDAID1|EDA-Id|HED-Id|ectodermal dysplasia, hypohidrotic, with immune deficiency 1 Orphanet:98813|UMLS:C1846006|OMIM:300291|Orphanet:238468 owl:Class GO:0045665 biolink:NamedThing negative regulation of neuron differentiation Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of neuron differentiation|downregulation of neuron differentiation|down-regulation of neuron differentiation|inhibition of neuron differentiation owl:Class MONDO:0016638 biolink:NamedThing familial hypodysfibrinogenemia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:248408|ICD10:D68.2|OMIM:616004|UMLS:CN201839 owl:Class HP:0000458 biolink:NamedThing Anosmia An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. tmpaxzxjjyw_mondo_relaxed.owl Loss of smell|Lost smell MSH:D000857|SNOMEDCT_US:44169009|UMLS:C0003126 human_phenotype owl:Class UBERON:0004422 biolink:NamedThing proximal epiphysis of first metacarpal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012135 biolink:NamedThing restless legs syndrome, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl restless legs syndrome, susceptibility to, 2|RLS2 UMLS:C1837285|OMIM:608831|GARD:0009710 owl:Class MONDO:0006556 biolink:NamedThing hand dermatosis Skin conditions characterised by dense infiltration of inflammatory cells (neutrophils) in the affected tissue. They arise in reaction to some underlying systemic illness. A neutrophilic dermatosis may be seen in isolation or more than one type may occur in the same individual. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000706|UMLS:C0018567|DOID:3158|MESH:D006229 Editor note: TODO check definition owl:Class GO:0098588 biolink:NamedThing bounding membrane of organelle The lipid bilayer that forms the outer-most layer of an organelle. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012612 biolink:NamedThing intellectual disability, autosomal recessive 12 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 12|intellectual disability, autosomal recessive type 12|intellectual disability, autosomal recessive 12|MRT12|mental retardation, autosomal recessive type 12 UMLS:C1970200|MESH:C567019|OMIM:611090 owl:Class MONDO:0009323 biolink:NamedThing Halothane hepatitis tmpaxzxjjyw_mondo_relaxed.owl Halothane hepatitis UMLS:C0241913|MESH:C562477|OMIM:234350|SCTID:235873001 owl:Class GO:0043167 biolink:NamedThing ion binding Binding to an ion, a charged atoms or groups of atoms. tmpaxzxjjyw_mondo_relaxed.owl atom binding owl:Class HGNC:7155 biolink:NamedThing MMP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18501 biolink:NamedThing RPS4Y2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005347 biolink:NamedThing hypertriglyceridemia A laboratory test result indicating elevated triglyceride concentration in the blood. tmpaxzxjjyw_mondo_relaxed.owl hypertriglyceridemia (disease)|hypertriglyceridemia hypertriglyceridemia (disease) EFO:0004211|HP:0002155|MESH:D015228|UMLS:C0020557|SCTID:302870006|NCIT:C37971 owl:Class MONDO:0009740 biolink:NamedThing neurofaciodigitorenal syndrome Neurofaciodigitorenal syndrome is a rare, multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. tmpaxzxjjyw_mondo_relaxed.owl Freire Maia-Pinheiro-Opitz syndrome|Nfdr syndrome|neurofaciodigitorenal syndrome|Freire-Maia Pinheiro Opitz syndrome MESH:C537388|ICD10:Q87.8|UMLS:C0796088|GARD:0003964|OMIM:256690|SCTID:725908007|Orphanet:2673 https://rarediseases.info.nih.gov/diseases/3964/neurofaciodigitorenal-syndrome owl:Class IAO:8000001 biolink:NamedThing base ontology module An ontology module that comprises only of asserted axioms local to the ontology, excludes import directives, and excludes axioms or declarations from external ontologies. tmpaxzxjjyw_mondo_relaxed.owl base ontology module owl:Class MONDO:0005844 biolink:NamedThing chalazion An eyelid cyst caused by the blockage of a meibomian gland. tmpaxzxjjyw_mondo_relaxed.owl chalazion|Meibomian cyst|meibomian gland lipogranuloma|chalazia|cyst, Meibomian SCTID:1482004|EFO:0007363|NCIT:C26717|DOID:9903|ICD9:373.2|MESH:D017043|ICD10:H00.1|UMLS:C0007933 owl:Class MONDO:0000981 biolink:NamedThing Histoplasma pericarditis An pericarditis (disease) caused by infection with Histoplasma. tmpaxzxjjyw_mondo_relaxed.owl histoplasmosis pericarditis|Histoplasma caused pericarditis (disease)|acute Histoplasma pericarditis|histoplasmosis with pericarditis|Histoplasma pericarditis (disease) SCTID:187059008|ICD9:115.93|DOID:10234|UMLS:C0153279 owl:Class MONDO:0014713 biolink:NamedThing porokeratosis 9, multiple types Any porokeratosis (disease) in which the cause of the disease is a mutation in the FDPS gene. tmpaxzxjjyw_mondo_relaxed.owl porokeratosis (disease) caused by mutation in FDPS|porokeratosis 9, multiple types|FDPS porokeratosis (disease)|porokeratosis 9, multiple types; POROK9|POROK9 UMLS:C4225262|OMIM:616631 owl:Class MONDO:0020680 biolink:NamedThing acute bronchiolitis Acute inflammation of the bronchioles usually caused by the respiratory syncytial virus. tmpaxzxjjyw_mondo_relaxed.owl acute capillary bronchiolitis|Capillary pneumonia|acute bronchiolitis|acute Bronchiolitis|capillary pneumonia ICD9:466.19|UMLS:C0001311|NCIT:C39659|ICD9:466.1|SCTID:5505005 owl:Class UBERON:0035078 biolink:NamedThing parotid gland interlobular duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011931 biolink:NamedThing ovarian cancer, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl OVCAS1|ovarian cancer, susceptibility to, 1 OMIM:607893 owl:Class MONDO:0011415 biolink:NamedThing Leber congenital amaurosis 3 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the SPATA7 gene. tmpaxzxjjyw_mondo_relaxed.owl Leber congenital amaurosis type 3|retinitis pigmentosa, juvenile, Spata7-related|amaurosis congenita of Leber, type 3|SPATA7 Leber congenital amaurosis|Leber congenital amaurosis caused by mutation in SPATA7|Leber congenital amaurosis 3|LCA3 OMIM:604232|GARD:0009661|DOID:0110331|ICD10:H35.5|MESH:C565814 https://rarediseases.info.nih.gov/diseases/9661/leber-congenital-amaurosis-3 owl:Class ENVO:01000342 biolink:NamedThing montane An altitudinal condition which inheres in a bearer by virtue of the bearer being located at an altitude between mid-altitude forests and the tree line. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14581 biolink:NamedThing PINK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33661 biolink:NamedThing monocyclic compound tmpaxzxjjyw_mondo_relaxed.owl monocyclic compounds owl:Class MONDO:0041366 biolink:NamedThing acute epiglottitis Acute form of epiglottitis. tmpaxzxjjyw_mondo_relaxed.owl acute epiglottitis and supraglottitis|acute epiglottitis|epiglottitis, acute SCTID:29608009 owl:Class UBERON:0003564 biolink:NamedThing diencephalon dura mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022402 biolink:NamedThing agyria-pachygyria type 1 A disorder of neuronal migration that is characterized by abnormal cortex morphology, with pathological features including a variably decreased brain size, enlarged ventricles representing a stage of fetal development rather than hydrocephalus, heterotopia of the inferior olivary bodies that lie between the corpus pontobulbare and their normal location, aberrant or absent corticospinal tract, heterotopia of cerebellar granules and abnormally shaped dentate nuclei. tmpaxzxjjyw_mondo_relaxed.owl Bielchowsky type of lissencephaly|type I lissencephaly GARD:0000573 https://rarediseases.info.nih.gov/diseases/573/agyria-pachygyria-type-1 owl:Class HP:0002633 biolink:NamedThing Vasculitis Inflammation of blood vessel. tmpaxzxjjyw_mondo_relaxed.owl Inflammation of blood vessel|Angiitis UMLS:C0042384|SNOMEDCT_US:31996006|MSH:D014657 human_phenotype owl:Class MONDO:0010296 biolink:NamedThing immunodeficiency 61 tmpaxzxjjyw_mondo_relaxed.owl XLA2|agammaglobulinemia X-linked type 2|agammaglobulinemia, X-linked, type 2|AGMX2 Orphanet:229717|UMLS:C1845903|OMIM:300310|Orphanet:47|GARD:0010007|MESH:C538057 owl:Class MONDO:0009777 biolink:NamedThing Oliver syndrome Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. tmpaxzxjjyw_mondo_relaxed.owl postaxial polydactyly-intellectual disability syndrome|postaxial polydactyly and mental retardation|postaxial polydactyly and intellectual disability|Oliver syndrome OMIM:258200|GARD:0004069|MESH:C564931|SCTID:721017000|UMLS:C1850320|Orphanet:2920|ICD10:Q87.2 https://rarediseases.info.nih.gov/diseases/4069/oliver-syndrome owl:Class HP:0002167 biolink:NamedThing Neurological speech impairment tmpaxzxjjyw_mondo_relaxed.owl Speech impairment|Speech disorder|Speech impediment UMLS:C0037822|MSH:D013064 human_phenotype owl:Class NCBITaxon:1903411 biolink:NamedThing Yersiniaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:27620848 ncbi_taxonomy owl:Class MONDO:0021334 biolink:NamedThing immunoproliferative disorder Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins. tmpaxzxjjyw_mondo_relaxed.owl Immunoproliferative Disorders|Immunoproliferative disease|Immunoproliferative Disorder|immunoproliferative disorder|Immunoproliferative disorder|Disorders, Immunoproliferative|Disorder, Immunoproliferative MESH:D007160|SCTID:127071007|ICD9:203.80|UMLS:C0021070 owl:Class MONDO:0008363 biolink:NamedThing raindrop hypopigmentation tmpaxzxjjyw_mondo_relaxed.owl raindrop hypopigmentation OMIM:179500|MESH:C566724 owl:Class HGNC:30831 biolink:NamedThing TDRD7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1512 biolink:NamedThing CASQ1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011661 biolink:NamedThing inflammatory bowel disease 5 An inflammatory bowel disease that has material basis in variation in the chromosome region 5q31. tmpaxzxjjyw_mondo_relaxed.owl inflammatory bowel disease 5|inflammatory bowel disease type 5|IBD5 MESH:C565234|UMLS:C1853438|DOID:0110889|OMIM:606348 owl:Class HGNC:11497 biolink:NamedThing SYNGAP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011344 biolink:NamedThing parotitis, juvenile recurrent tmpaxzxjjyw_mondo_relaxed.owl parotitis, juvenile recurrent OMIM:603588|UMLS:C1863691|MESH:C566359 owl:Class GO:0086019 biolink:NamedThing cell-cell signaling involved in cardiac conduction Any process that mediates the transfer of information from one cell to another and contributes to the heart process that regulates cardiac muscle contraction; beginning with the generation of an action potential in the sinoatrial node and ending with regulation of contraction of the myocardium. tmpaxzxjjyw_mondo_relaxed.owl cell-cell signalling involved in cardiac conduction owl:Class UBERON:0009482 biolink:NamedThing associated mesenchyme of foregut-midgut junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C19085 biolink:NamedThing Sexual Transmission tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C17214 biolink:NamedThing Disease Transmission tmpaxzxjjyw_mondo_relaxed.owl Transmission owl:Class GO:0015812 biolink:NamedThing gamma-aminobutyric acid transport The directed movement of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl 4-aminobutyrate transport|4-aminobutanoate transport|GABA transport owl:Class MONDO:0017856 biolink:NamedThing X-linked spasticity-intellectual disability-epilepsy syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203866|ICD10:G25.3|Orphanet:3175|OMIM:308350 owl:Class NCBITaxon:6687 biolink:NamedThing Penaeus monodon tmpaxzxjjyw_mondo_relaxed.owl tiger prawn|black tiger shrimp|Penaeus carinatus|giant tiger prawn|Penaeus durbani|Penaeus bubulus|Penaeus (Penaeus) monodon GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012716 biolink:NamedThing spondyloepiphyseal dysplasia, Cantu type Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). tmpaxzxjjyw_mondo_relaxed.owl tattoo dysplasia|spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome|fantasy Island syndrome|Sed-BDS|spondyloepiphyseal dysplasia-brachydactyly and distinctive speech|Tatoo dysplasia|SED-BDS Orphanet:163654|SCTID:718765003|UMLS:C2673649|GARD:0010629|OMIM:611717|ICD10:Q77.7|MESH:C567128 owl:Class MONDO:0005689 biolink:NamedThing cannabis dependence Physical and psychological dependence on the drug cannabis. tmpaxzxjjyw_mondo_relaxed.owl cannabis abuse|marijuana dependence|marijuana abuse NCIT:C34445|ICD9:304.3|DOID:1849|EFO:0007191|SCTID:37344009|ICD9:305.2|ICD10:F12.1|SCTID:85005007|ICD10:F12.2|ICD10:F12|ICD9:304.30|MESH:D002189|DOID:9505 owl:Class MONDO:0001225 biolink:NamedThing opioid abuse A substance abuse that involves the recurring use of opioid drugs despite negative consequences. tmpaxzxjjyw_mondo_relaxed.owl DOID:11206|ICD9:305.5|ICD10:F11.1|SCTID:5602001 owl:Class MONDO:0003650 biolink:NamedThing mixed hepatoblastoma A hepatoblastoma characterized by the presence of fetal and embryonal epithelial components and a mesenchymal component. tmpaxzxjjyw_mondo_relaxed.owl mixed epithelial and mesenchymal hepatoblastoma UMLS:C1334784|DOID:5789|NCIT:C7097|ICDO:8970/3 owl:Class GO:0005589 biolink:NamedThing collagen type VI trimer A collagen heterotrimer containing type VI alpha chains in alpha1(VI)alpha2(VI)alpha3(VI) trimers; type VI collagen triple helices associate to form beaded fibrils. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PO:0020148 biolink:NamedThing shoot apical meristem A shoot system meristem (PO:0006079) formed at the apex of the shoot axis (PO:0025029), including those originating from an axillary bud meristem (PO:0000232). tmpaxzxjjyw_mondo_relaxed.owl primary shoot meristem (related)|SAM (exact)|promeristem (broad)|茎頂分裂組織 (Japanese, exact)|meristema apical del epiblasto (epiblastema) (Spanish, exact) PO_GIT:472 plant_anatomy owl:Class NCBITaxon:3750 biolink:NamedThing Malus domestica tmpaxzxjjyw_mondo_relaxed.owl cultivated apple|Pyrus malus|Malus pumila var. domestica|apple|Malus communis|Malus sylvestris var. domestica|Malus pumila auct.|apple tree|Malus x domestica GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012370 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 51 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 11p13-p12. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive deafness 51|deafness, autosomal recessive 51|autosomal recessive nonsyndromic deafness 51|autosomal recessive nonsyndromic deafness type 51|DFNB51 OMIM:609941|DOID:0110508|MESH:C538202|GARD:0009918|ICD10:H90.3 owl:Class MONDO:0015379 biolink:NamedThing cervical dermoid cyst Cervical dermoid cyst is a rare, benign cutaneous neoplasm containing keratinized epithelium and dermal derivatives, such as hair follicles, sweat and sebaceous glands, smooth muscle or fibroadipose tissue which usually manifests as a slow-growing, painless mass in the submandibular or sublingual space. Depending on the location, and especially after sudden enlargement, it can cause dyspnea, dysphagia or dysphonia. tmpaxzxjjyw_mondo_relaxed.owl dermoid cyst of the neck ICD10:Q18.8|SCTID:763129001|Orphanet:141046 owl:Class NCBITaxon:9903 biolink:NamedThing Bos tmpaxzxjjyw_mondo_relaxed.owl oxen, cattle GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012685 biolink:NamedThing major affective disorder 5 tmpaxzxjjyw_mondo_relaxed.owl MAFD5|major affective disorder 5|bipolar affective disorder|MAJOR affective disorder 5 MESH:C567074|OMIM:611535 owl:Class MONDO:0004042 biolink:NamedThing urethra inverted papilloma A neoplasm of the urethra in which the epithelial cells grow downward into the underlying supportive tissue. tmpaxzxjjyw_mondo_relaxed.owl urethra inverted papilloma|inverted papilloma of urethra|urethral inverted papilloma|inverted papilloma of the urethra UMLS:C1336887|DOID:6934|NCIT:C6173 owl:Class MONDO:0002606 biolink:NamedThing epithelioid type angiomyolipoma An angiomyolipoma composed exclusively or predominantly by polygonal epithelioid cells with eosinophilic cytoplasm, often associated with cytologic atypia. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C38151|UMLS:C1333426|DOID:3318 owl:Class HGNC:9364 biolink:NamedThing PRG4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:15894 biolink:NamedThing PANK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001389 biolink:NamedThing congenital coronary artery anomaly tmpaxzxjjyw_mondo_relaxed.owl congenital anomaly of coronary artery|coronary artery anomaly|coronary artery anomaly, congenital|coronary artery abnormality [ambiguous]|coronary artery abnormality DOID:11843|ICD9:746.85|SCTID:28574005 owl:Class MONDO:0002200 biolink:NamedThing eccrine mixed tumor of skin A rare, benign, slow-growing and painless neoplasm of sweat glands. It usually arises in the head and neck. It is characterized by the presence of a mesenchymal chondroid stroma, fibrosis, and epithelial structures. tmpaxzxjjyw_mondo_relaxed.owl benign mixed tumor of the skin|mixed tumor of the skin (chondroid syringoma)|benign mixed tumor of skin|chondroid syringoma|eccrine sweat gland mixed neoplasm|benign mixed tumor of the skin (chondroid syringoma)|benign mixed tumor of skin (chondroid syringoma)|eccrine mixed tumor (morphologic abnormality)|mixed eccrine neoplasm of the skin|eccrine mixed tumor NCIT:C4474|DOID:2079|EFO:1000385|SCTID:254720009|UMLS:C0346026 MONDO:0006308 owl:Class MONDO:0007346 biolink:NamedThing cochleosaccular degeneration-cataract syndrome Cochleosaccular degeneration-cataract syndrome is characterised by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl Cochleosaccular Degeneration of the inner Ear with progressive cataracts|Cochleosaccular degeneration of the inner ear and progressive cataracts|Cochleosaccular Degeneration|COCHLEOSACCULAR degeneration with progressive cataracts Orphanet:3233|MESH:C536432|GARD:0009418|OMIM:120040|SCTID:715528001|UMLS:C1861512 https://rarediseases.info.nih.gov/diseases/9418/cochleosaccular-degeneration-of-the-inner-ear-and-progressive-cataracts owl:Class MONDO:0009481 biolink:NamedThing Jumping Frenchmen of Maine tmpaxzxjjyw_mondo_relaxed.owl exaggerated startle reflex|'jumpers' of Maine|Jumping Frenchmen of Maine GARD:0006803|OMIM:244100 owl:Class HGNC:30220 biolink:NamedThing RFT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5992 biolink:NamedThing IL1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020735 biolink:NamedThing ACTH-independent macronodular adrenal hyperplasia 1 tmpaxzxjjyw_mondo_relaxed.owl ACTH-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia|AIMAH1|ACTH-independent macronodular adrenocortical hyperplasia|corticotropin-independent macronodular adrenal hyperplasia|Cushing syndrome, adrenal, due to AIMAH Orphanet:189427|DOID:0111623|UMLS:C1857451|OMIM:219080 owl:Class MONDO:0009678 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment. tmpaxzxjjyw_mondo_relaxed.owl MDDGA4|congenital muscular dystrophy, Fukuyama type|Fukuyama congenital muscular dystrophy|FCMD|Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related|muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|muscle-eye-brain-FKTN related DOID:0050559|ICD10:G71.0|OMIM:253800|SCTID:111502003|Orphanet:899|Orphanet:272|Orphanet:588|UMLS:C0410174|NCIT:C126741 owl:Class MONDO:0011844 biolink:NamedThing myoclonic dystonia 15 A myoclonic dystonia characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 18p11. tmpaxzxjjyw_mondo_relaxed.owl DYT15|dystonia 15, myoclonic|myoclonic dystonia type 15 DOID:0090035|Orphanet:210566|UMLS:C1843786|MESH:C538002|OMIM:607488 owl:Class MONDO:0023007 biolink:NamedThing Drachtman Weinblatt Sitarz syndrome A rare genetic disorder, characterized by under-development of bone marrow and neurological disorders such as weakness on one side of the body, agenesis of corpus callosum and hydrocephalus. tmpaxzxjjyw_mondo_relaxed.owl marrow hypoplasia associated with congenital neurologic anomalies|Drachtman Weinblatt Sitarz syndrome UMLS:C2930947|MESH:C535603|GARD:0001913 https://rarediseases.info.nih.gov/diseases/1913/drachtman-weinblatt-sitarz-syndrome owl:Class GO:0042398 biolink:NamedThing cellular modified amino acid biosynthetic process The chemical reactions and pathways resulting in the formation of compounds derived from amino acids, organic acids containing one or more amino substituents. tmpaxzxjjyw_mondo_relaxed.owl cellular amino acid derivative anabolism|cellular modified amino acid formation|cellular amino acid derivative biosynthetic process|cellular amino acid derivative biosynthesis|amino acid derivative biosynthetic process|cellular modified amino acid synthesis|cellular amino acid derivative formation|cellular modified amino acid anabolism|cellular modified amino acid biosynthesis|cellular amino acid derivative synthesis owl:Class MONDO:0023240 biolink:NamedThing gigantism advanced bone age hoarse cry tmpaxzxjjyw_mondo_relaxed.owl GARD:0002471 https://rarediseases.info.nih.gov/diseases/2471/gigantism-advanced-bone-age-hoarse-cry owl:Class MONDO:0006073 biolink:NamedThing adenomatoid odontogenic tumor A benign, slow growing neoplasm arising from tooth-forming tissues. The vast majority of cases are intraosseous and most often grow in the maxilla. It is characterized by the presence of odontogenic epithelium which is embedded in a connective tissue stroma. Local excision is curative and recurrences are very rare. tmpaxzxjjyw_mondo_relaxed.owl adenomatoid odontogenic neoplasm EFO:1000072|MESH:C538229|NCIT:C4310|ICDO:9300/0 owl:Class MONDO:0021681 biolink:NamedThing sexually transmitted disease A Disease due to or propagated by sexual contact. tmpaxzxjjyw_mondo_relaxed.owl VD|sexually transmitted disease|venereal disease|diseases, venereal|diseases, sexually Transmitted|STD|infections, sexually Transmitted|VD, venereal disease|Transmitted infections, sexually|disease, venereal|sexually Transmitted infection|STIs|Transmitted infection, sexually|disease, sexually Transmitted|STDs|STI|venereal disease (VD)|infection, sexually Transmitted|sexually Transmitted infections|sexually Transmitted disorder|venereal diseases|disease (VD), venereal ICD9:099.9|SCTID:8098009|MESH:D012749|ICD10:A50.A64|UMLS:C0036916|ICD9:099.8|NCIT:C3365 owl:Class MONDO:0012310 biolink:NamedThing fibrosis of extraocular muscles, congenital, with synergistic divergence tmpaxzxjjyw_mondo_relaxed.owl external ophthalmoplegia with synergistic divergence|fibrosis of extraocular muscles, congenital, with synergistic divergence|congenital fibrosis syndrome with synergistic divergence|external ophthalmoplegia, synergistic divergence, jaw winking, and oculocutaneous hypopigmentation UMLS:C1865040|OMIM:609612|Orphanet:45358 owl:Class MONDO:0000450 biolink:NamedThing secondary progressive multiple sclerosis A multiple sclerosis with a clinical course characterized by a progressive accumulation of neurological disability, independent of relapses, following an initial relapsing-remitting (RR) phase. tmpaxzxjjyw_mondo_relaxed.owl SPMS|secondary-progressive MS SCTID:425500002|MESH:D020528|DOID:0050783|UMLS:C0751965|EFO:0008522 owl:Class UBERON:0005169 biolink:NamedThing interstitial tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000385 biolink:NamedThing positive regulation of ectoderm development Any process that activates or increases the frequency, rate or extent of ectoderm development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060758 biolink:NamedThing spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits|SCA42ND OMIM:618087 owl:Class MONDO:0009450 biolink:NamedThing ciliary dyskinesia with excessively long cilia tmpaxzxjjyw_mondo_relaxed.owl ciliary dyskinesia with excessively long cilia|immotile cilia syndrome due to excessively long cilia Orphanet:244|OMIM:242680|SCTID:233665006|MESH:C536287|GARD:0002982|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/2982/ciliary-dyskinesia-with-excessively-long-cilia owl:Class MONDO:0019754 biolink:NamedThing multicentric Castleman disease Multicentric castleman disease (MCD) is an aggressive form of Castleman disease that mostly results from human herpesvirus 8 (HHV8) infection. It manifests by fever, diffuse lymphadenopathy, hepatosplenomegaly, Involvement of the respiratory system and increased C-reactive protein. tmpaxzxjjyw_mondo_relaxed.owl MCD|plasmablastic multicentric Castleman disease|PMCD|multicentric Angiofollicular lymphoid hyperplasia|idiopathic multicentric Castleman's disease|multicentric Castleman's disease|multicentric plasma cell variant of Castleman's disease|multicentric giant lymph node hyperplasia GARD:9644|NCIT:C27855|DOID:0111152|UMLS:C1334815|Orphanet:93686|OMIM:148000|url:https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease|GARD:0009644|ICD10:D36.0 owl:Class CL:0001008 biolink:NamedThing Kit and Sca1-positive hematopoietic stem cell A hematopoietic stem cell that has plasma membrane part Kit-positive, SCA-1-positive, CD150-positive and CD34-negative. tmpaxzxjjyw_mondo_relaxed.owl Sca1-positive hematopoietic stem cell|LSK stem cell Cell markers are associated with mouse hematopoietic stem cell. Originally described in the dendritic cell ontology (DC_CL:0000043)(PMID:19243617). cell owl:Class MONDO:0023642 biolink:NamedThing Weber syndrome tmpaxzxjjyw_mondo_relaxed.owl Midbrain stroke syndromes|Weber-Gubler syndrome|Weber Syndrome SCTID:24654003|GARD:0008676|UMLS:C0455717|ICD9:344.89 owl:Class MONDO:0006953 biolink:NamedThing Rh isoimmunization The mother develops antibodies against red blood cell Rhesus antigens. This may lead to potential fetal adverse outcomes such as anemia. tmpaxzxjjyw_mondo_relaxed.owl Rh incompatibility affecting management of mother MedDRA:10039016|DOID:4175|UMLS:C0035404|SCTID:44795003|NCIT:C113150|EFO:1001159 owl:Class MONDO:0002901 biolink:NamedThing blood group incompatibility tmpaxzxjjyw_mondo_relaxed.owl DOID:4176|UMLS:C0005806|CSP:0440-3703 May be obsoleted as it represents a finding owl:Class MONDO:0015629 biolink:NamedThing von Willebrand disease type 2B A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma. tmpaxzxjjyw_mondo_relaxed.owl von Willebrand disease type 2B|von Willebrand disease, type 2B NCIT:C131687|UMLS:C1282971|SCTID:359717002|OMIM:613554|ICD10:D68.0|SCTID:359721009|Orphanet:166087 owl:Class ECTO:7000045 biolink:NamedThing exposure to stellar radiation A exposure event involving the interaction of an exposure receptor to stellar radiation. tmpaxzxjjyw_mondo_relaxed.owl stellar radiation exposure owl:Class MONDO:0035117 biolink:NamedThing PUM1-associated developmental disability-ataxia-seizure syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:589515 owl:Class MONDO:0010001 biolink:NamedThing ectodermal dysplasia-blindness syndrome Ectodermal dysplasia-blindness syndrome is characterized by intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities|RODRIGUES blindness|microphthalmia, microcornea, and sclerocornea with short stature and hair and dental abnormalities UMLS:C1849332|Orphanet:1806|GARD:0000293|MESH:C535865|OMIM:268320|ICD10:Q87.8 owl:Class MONDO:0000393 biolink:NamedThing partial fetal alcohol syndrome A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050666|UMLS:C3661483 owl:Class MONDO:0016208 biolink:NamedThing solitary rectal ulcer syndrome Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease characterized by rectal bleeding, abdominal pain, passage of mucus, sensation of incomplete evacuation, straining at defecation and rectal prolapsed, secondary to ischemic changes in the rectum. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209964|SCTID:716685003|UMLS:C4274343|UMLS:CN200964|ICD10:K62.6 owl:Class CHEBI:63161 biolink:NamedThing glycosyl compound A carbohydrate derivative arising formally from the elimination of water from a glycosidic hydroxy group and an H atom bound to an oxygen, carbon, nitrogen or sulfur atom of a separate entity. tmpaxzxjjyw_mondo_relaxed.owl glycosyl compounds owl:Class MONDO:0012887 biolink:NamedThing inflammatory bowel disease 23 An inflammatory bowel disease that has material basis in variation in the chromosome region 1q32.1. tmpaxzxjjyw_mondo_relaxed.owl inflammatory bowel disease type 23|inflammatory bowel disease 23|IBD23 OMIM:612381|DOID:0110884|UMLS:C2676484|MESH:C567326 owl:Class MONDO:0013312 biolink:NamedThing retinitis pigmentosa 55 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa caused by mutation in ARL6|ARL6 retinitis pigmentosa|retinitis pigmentosa type 55|RP55|retinitis pigmentosa 55 DOID:0110370|OMIM:613575|UMLS:C3150808|ICD10:H35.5 owl:Class MONDO:0013418 biolink:NamedThing aortic aneurysm, familial thoracic 7 tmpaxzxjjyw_mondo_relaxed.owl aortic aneurysm, familial thoracic 7|aortic aneurysm, familial thoracic type 7|AAT7|aortic dissection, familial, with or without aortic aneurysm Orphanet:91387|OMIM:613780|UMLS:C3151077 owl:Class MONDO:0004102 biolink:NamedThing columnar cell variant thyroid gland papillary carcinoma A morphologic variant of papillary carcinoma of the thyroid gland characterized by the presence of pseudostratified malignant follicular cells. tmpaxzxjjyw_mondo_relaxed.owl columnar cell variant papillary thyroid gland carcinoma|columnar cell variant thyroid gland papillary carcinoma|columnar cell variant papillary carcinoma UMLS:C1333120|DOID:7088|ICDO:8344/3|NCIT:C35830 owl:Class MONDO:0001951 biolink:NamedThing Norwegian scabies A rare, severe form of scabies that is associated with immunosuppression. It is characterized by an immense number of mites and hyperkeratotic crusted lesions, and is usually accompanied by lymphadenopathy and eosinophilia. tmpaxzxjjyw_mondo_relaxed.owl seven year itch|crusted scabies SCTID:128870005|GARD:0012151|DOID:14374|UMLS:C0028425|NCIT:C34855 owl:Class MONDO:0004525 biolink:NamedThing scabies A contagious skin infection that is caused by the burrowing parasitic mite, Sarcoptes scabiei, and is characterized by intense itching and small, raised red spots in the area of the mite burrows. tmpaxzxjjyw_mondo_relaxed.owl infestation by Sarcoptes scabiei var hominis|sarcoptic itch|infestation by Sarcoptes scabiei|Sarcoptes scabiei caused disease or disorder|Sarcoptes scabiei disease or disorder|Sarcoptes scabiei infectious disease UMLS:C0036262|NCIT:C34998|MESH:D012532|SCTID:128869009|ICD10:B86|ICD9:133.0|DOID:8295 owl:Class MONDO:0005767 biolink:NamedThing gas gangrene A severe condition resulting from bacteria invading healthy muscle from adjacent traumatized muscle or soft tissue. The infection originates in a wound contaminated with bacteria of the genus clostridium. C. perfringens accounts for the majority of cases (over eighty percent), while C. noyvi, C. septicum, and C. histolyticum cause most of the other cases. tmpaxzxjjyw_mondo_relaxed.owl myonecrosis|gas gangrene|gas bacillus infection DOID:9159|ICD9:040.0|UMLS:C0017105|EFO:0007279|MESH:D005738|ICD10:A48.0|SCTID:80466000 owl:Class MONDO:0005808 biolink:NamedThing inclusion conjunctivitis Inflammation of the conjunctiva in a newborn due to Chlamydia trachomatis which was acquired during labor and delivery. tmpaxzxjjyw_mondo_relaxed.owl neonatal Chlamydia conjunctivitis|Chlamydial conjunctivitis|inclusion blenorrhea|Trachoma|Paratrachoma|adult inclusion conjunctivitis|inclusion blennorrhoea ICD10:A74.0|ICD9:077.0|MESH:D003235|NCIT:C116817|SCTID:231861005|UMLS:C0009770|ICD9:077.98|DOID:13800|GARD:0006777|EFO:0007324 https://rarediseases.info.nih.gov/diseases/6777/inclusion-conjunctivitis owl:Class MONDO:0012373 biolink:NamedThing ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features GARD:0009939|OMIM:609944|MESH:C536182|UMLS:C1864966 https://rarediseases.info.nih.gov/diseases/9939/ectodermal-dysplasia-sensorineural-hearing-loss-and-distinctive-facial-features owl:Class FOODON:03420293 biolink:NamedThing fruit core (anatomical part) The hard, central part of an apple, pear, etc., that contains the seeds (Source: Webster's) tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010176 biolink:NamedThing orofaciodigital syndrome type 6 Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. tmpaxzxjjyw_mondo_relaxed.owl OFD6|Joubert syndrome with oral-facial-digital syndrome|polydactyly, cleft Lip/palate or lingual lump, and psychomotor retardation|oral-Facial-digital syndrome, type 6|orofaciodigital syndrome 6|Ofds 6|polydactyly cleft lip palate psychomotor retardation|Joubert syndrome with orofaciodigital defect|Varadi syndrome|Váradi syndrome|Váradi-Papp syndrome|Varadi-Papp syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|oral-facial-digital syndrome type 6|polydactyly - cleft lip/palate - psychomotor retardation|orofaciodigital syndrome VI|orofaciodigital syndrome type 6 OMIM:614815|NCIT:C124841|UMLS:C2745997|OMIM:615665|ICD10:Q04.3|OMIM:300804|OMIM:617127|MESH:C536531|Orphanet:2754|GARD:0004412|DOID:0060376|OMIM:277170|SCTID:721873007 https://rarediseases.info.nih.gov/diseases/4412/polydactyly-cleft-lip-palate-psychomotor-retardation owl:Class CHEBI:65255 biolink:NamedThing food preservative Substances which are added to food in order to prevent decomposition caused by microbial growth or by undesirable chemical changes. tmpaxzxjjyw_mondo_relaxed.owl food preservatives owl:Class MONDO:0023002 biolink:NamedThing double discordia tmpaxzxjjyw_mondo_relaxed.owl atrio-ventricular and ventriculo-arterial double Discordia|corrected transposition GARD:0001905 https://rarediseases.info.nih.gov/diseases/1905/double-discordia owl:Class HGNC:7794 biolink:NamedThing NFKB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017560 biolink:NamedThing congenital genu recurvatum An abnormal alignment of the knee backwards that is due to a deformity in the knee joint. tmpaxzxjjyw_mondo_relaxed.owl genu recurvatum|hyperextension of knee deformity|hyperextension deformity of knee Orphanet:295229|NCIT:C103184|ICD10:Q68.2|SCTID:205063003|ICD9:754.40 owl:Class MONDO:0017470 biolink:NamedThing congenital knee dislocation tmpaxzxjjyw_mondo_relaxed.owl congenital knee dislocation|congenital knee dislocation (disease) congenital knee dislocation (disease) HP:0005191|ICD10:Q68.2|MedDRA:10010520|Orphanet:295034|SCTID:59068006|ICD9:754.41 owl:Class MONDO:0032811 biolink:NamedThing night blindness, congenital stationary, type1i tmpaxzxjjyw_mondo_relaxed.owl CSNB1I|NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I OMIM:618555 owl:Class PATO:0001776 biolink:NamedThing increased flexibility A flexibility which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl high flexibility owl:Class MONDO:0018249 biolink:NamedThing finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:369979|ICD10:Q87.2|UMLS:CN204822 owl:Class MONDO:0001607 biolink:NamedThing intrapelvic lymph node leukemic reticuloendotheliosis tmpaxzxjjyw_mondo_relaxed.owl leukemic reticuloendotheliosis of intrapelvic lymph nodes|leukemic reticuloendotheliosis involving intrapelvic lymph nodes UMLS:C0153831|DOID:12972|ICD9:202.46|SCTID:93145002 owl:Class MONDO:0018935 biolink:NamedThing hairy cell leukemia Hairy cell leukemia (HCL) is a rare type of leukemia in which abnormal B-lymphocytes are present in the bone marrow, spleen and peripheral blood. It is a slowly progressive chronic lymphocytic leukemia (CLL). The name comes from the abnormally shaped lymphocytes with hair-like projections. tmpaxzxjjyw_mondo_relaxed.owl hairy cell leukemia|HCL-C|HCL|leukemic reticuloendotheliosis|classic hairy cell leukemia MedDRA:10019053|MedDRA:10019055|ICD9:202.4|EFO:1000956|DOID:285|Orphanet:58017|ICD10:C91.4|ICD10:C91.40|ONCOTREE:HCL|UMLS:C0023443|SCTID:118613001|GARD:0006560|MESH:D007943|NCIT:C7402|ICDO:9940/3 owl:Class MONDO:0014455 biolink:NamedThing cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl CAGSSS|cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia ICD10:Q87.8|UMLS:C4014942|Orphanet:436174|OMIM:616007 owl:Class UBERON:0009679 biolink:NamedThing set of lower jaw teeth tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010749 biolink:NamedThing trigonocephaly-short stature-developmental delay syndrome Trigonocephaly-short stature-developmental delay syndrome is characterised by short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance can not be ruled out. tmpaxzxjjyw_mondo_relaxed.owl trigonocephaly, short stature and developmental delay|trigonocephaly with short stature and developmental delay|trigonocephaly, short stature, and retarded psychomotor development|Say-Meyer syndrome|Say Meyer syndrome GARD:0000243|OMIM:314320|ICD10:Q87.0|SCTID:733066002|MESH:C536620|Orphanet:3369 owl:Class MONDO:0022694 biolink:NamedThing cerebral calcifications opalescent teeth phosphaturia tmpaxzxjjyw_mondo_relaxed.owl GARD:0001202 https://rarediseases.info.nih.gov/diseases/1202/cerebral-calcifications-opalescent-teeth-phosphaturia owl:Class MONDO:0005764 biolink:NamedThing follicular dendritic cell sarcoma A neoplasm composed of spindle to ovoid cells which have morphologic and immunophenotypic characteristics of follicular dendritic cells. It affects lymph nodes and other sites including the tonsils, gastrointestinal tract, spleen, liver, soft tissues, skin, and oral cavity. It usually behaves as a low grade sarcoma. Treatment options include complete surgical removal of the tumor with or without adjuvant chemotherapy or radiotherapy. Recurrences have been reported in up to half of the cases. tmpaxzxjjyw_mondo_relaxed.owl sarcoma of follicular dendritic cell|follicular Dendritic cell sarcoma/tumor|follicular dendritic cell sarcoma|follicular dendritic cell tumour|follicular Dendritic cell sarcoma MESH:D054740|EFO:0007276|UMLS:C1260325|ICDO:9758/3|ICDO:9758/1|ONCOTREE:FDCS|DOID:6262|ICD10:C96.4|Orphanet:86902|NCIT:C9281 owl:Class UBERON:0001472 biolink:NamedThing vaginal venous plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022555 biolink:NamedThing Beardwell syndrome tmpaxzxjjyw_mondo_relaxed.owl familial ankylosing vertebral hyperostosis with tylosis MESH:C537665|UMLS:C2931581 owl:Class MONDO:0011110 biolink:NamedThing dyssegmental dysplasia-glaucoma syndrome This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children. tmpaxzxjjyw_mondo_relaxed.owl dyssegmental dysplasia and glaucoma|dyssegmental dysplasia with glaucoma UMLS:C1832111|GARD:0002025|OMIM:601561|Orphanet:1804|MESH:C563290 https://rarediseases.info.nih.gov/diseases/2025/dyssegmental-dysplasia-and-glaucoma owl:Class MONDO:0006044 biolink:NamedThing nephrosclerosis Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia. tmpaxzxjjyw_mondo_relaxed.owl renal sclerosis MESH:D009400|UMLS:C0027719|GARD:0007179|SCTID:32916005|EFO:1000041|ICD9:587|DOID:11664|ICD10:N26.9|ICD10:I12 https://rarediseases.info.nih.gov/diseases/7179/nephrosclerosis owl:Class GO:0030964 biolink:NamedThing NADH dehydrogenase complex An integral membrane complex that possesses NADH oxidoreductase activity. The complex is one of the components of the electron transport chain. It catalyzes the transfer of a pair of electrons from NADH to a quinone. tmpaxzxjjyw_mondo_relaxed.owl NADH dehydrogenase complex (plastoquinone)|NADH dehydrogenase complex (quinone)|Complex I|plastid NADH dehydrogenase complex (plastoquinone)|NADH:plastoquinone reductase complex|NADH dehydrogenase complex (ubiquinone) owl:Class MONDO:0010783 biolink:NamedThing Alzheimer disease, susceptibility to, mitochondrial tmpaxzxjjyw_mondo_relaxed.owl Alzheimer disease, susceptibility to, mitochondrial OMIM:502500 owl:Class MONDO:0019733 biolink:NamedThing AFib amyloidosis tmpaxzxjjyw_mondo_relaxed.owl fibrinogen A alpha-chain amyloidosis|hereditary renal amyloidosis due to fibrinogen A alpha-chain variant|hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant|familial amyloid nephropathy due to fibrinogen A alpha-chain variant UMLS:CN206640|ICD10:E85.0|Orphanet:93562 owl:Class HGNC:17366 biolink:NamedThing AASS tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0005293 biolink:NamedThing Venous insufficiency tmpaxzxjjyw_mondo_relaxed.owl Poorly functioning veins SNOMEDCT_US:20696009|UMLS:C0042485|MSH:D014689 human_phenotype owl:Class MONDO:0007782 biolink:NamedThing hyperthermia, cutaneous, with headaches and nausea tmpaxzxjjyw_mondo_relaxed.owl farmer syndrome|hyperthermia, cutaneous, with headaches and nausea MESH:C564156|OMIM:145590|UMLS:C1840373 owl:Class HGNC:11036 biolink:NamedThing SLC5A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033492 biolink:NamedThing Coffin-Siris syndrome 6 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID2 gene. tmpaxzxjjyw_mondo_relaxed.owl Coffin-Siris syndrome 6|ARID2-related BAFopathy|CSS6|COFFIN-SIRIS syndrome 6 OMIM:617808|DOID:0080297|UMLS:CN696018 owl:Class MONDO:0011187 biolink:NamedThing polydactyly, postaxial, type A2 tmpaxzxjjyw_mondo_relaxed.owl PAPA2|polydactyly, postaxial, type A2|postaxial polydactyly, type A2 Orphanet:93334|MESH:C566585|OMIM:602085|UMLS:C1865883 owl:Class ENVO:01001852 biolink:NamedThing energy transfer process A process during which one entity loses energy to another entity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045819 biolink:NamedThing positive regulation of glycogen catabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of glycogen. tmpaxzxjjyw_mondo_relaxed.owl activation of glycogen catabolic process|positive regulation of glycogenolysis|positive regulation of glycogen degradation|positive regulation of glycogen catabolism|stimulation of glycogen catabolic process|up regulation of glycogen catabolic process|up-regulation of glycogen catabolic process|upregulation of glycogen catabolic process|positive regulation of glycogen breakdown owl:Class MONDO:0016162 biolink:NamedThing bilateral frontal polymicrogyria Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyriaand the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures mayalsobe present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:208444|OMIM:610031|ICD10:Q04.3|GARD:0010783 https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria owl:Class UBERON:0010009 biolink:NamedThing aggregate regional part of brain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004690 biolink:NamedThing tonsillar fossa cancer A cancer involving a tonsillar fossa. tmpaxzxjjyw_mondo_relaxed.owl tonsillar fossa cancer|malignant neoplasm of tonsillar fossa|malignant tumor of tonsillar fossa|malignant tonsillar fossa neoplasm|cancer of tonsillar fossa DOID:8969|SCTID:363394001|ICD9:146.1|UMLS:C0153384|ICD10:C09.0 owl:Class MONDO:0023170 biolink:NamedThing focal or multifocal malformations in neuronal migration tmpaxzxjjyw_mondo_relaxed.owl GARD:0002350 https://rarediseases.info.nih.gov/diseases/2350/focal-or-multifocal-malformations-in-neuronal-migration owl:Class MONDO:0007501 biolink:NamedThing preauricular fistulae, congenital tmpaxzxjjyw_mondo_relaxed.owl Pafc|preauricular fistulae, congenital|Ear pits MESH:C563015|OMIM:128700 owl:Class MONDO:0045003 biolink:NamedThing scrotal disorder A disease or disorder that involves the scrotum. tmpaxzxjjyw_mondo_relaxed.owl disease of scrotum|disorder of scrotum|scrotum disease or disorder|disease or disorder of scrotum|scrotum disease SCTID:49701002|UMLS:C0268919 owl:Class MONDO:0001866 biolink:NamedThing bipolar I disorder A bipolar disorder that is characterized by at least one manic or mixed episode. tmpaxzxjjyw_mondo_relaxed.owl bipolar 1 disorder|bipolar I disorder SCTID:371596008|DOID:14042|ICD9:296.7|ICD9:296.50 owl:Class MONDO:0023206 biolink:NamedThing functional pancreatic neuroendocrine tumor A low or intermediate grade well differentiated tumor with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of a clinical syndrome that results from hormone hypersecretion. tmpaxzxjjyw_mondo_relaxed.owl syndromic pancreatic neuroendocrine tumor|functioning PNET|functional pancreatic neuroendocrine tumor|functional pancreatic NET|functioning well-differentiated neuroendocrine neoplasm of pancreas|functioning well-differentiated pancreatic NEN|functioning well differentiated pancreatic endocrine tumor|functioning pancreatic neuroendocrine tumor|functioning neuroendocrine tumor of pancreas|functioning well differentiated pancreatic endocrine neoplasm|functioning well-differentiated NEN of pancreas|functioning pancreatic endocrine tumor|syndromic pancreatic NET|functioning well-differentiated pancreatic neuroendocrine neoplasm|functioning pancreatic NET GARD:0002414|UMLS:C1708107|NCIT:C45840|Orphanet:506060 https://rarediseases.info.nih.gov/diseases/2414/functioning-pancreatic-endocrine-tumor owl:Class MONDO:0017040 biolink:NamedThing exposure-related interstitial lung disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:264984|UMLS:CN202351 owl:Class MONDO:0017034 biolink:NamedThing secondary interstitial lung disease in childhood and adulthood tmpaxzxjjyw_mondo_relaxed.owl secondary ILD in childhood and adulthood UMLS:CN202346|Orphanet:264944 owl:Class GO:0010454 biolink:NamedThing negative regulation of cell fate commitment Any process that stops, prevents or reduces the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009429 biolink:NamedThing hypophosphatemia, renal, with intracerebral calcifications tmpaxzxjjyw_mondo_relaxed.owl hypophosphatemia, renal, with intracerebral calcifications MESH:C565478|UMLS:C1855809|OMIM:241519 owl:Class CL:0010020 biolink:NamedThing cardiac glial cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008670 biolink:NamedThing Waardenburg syndrome type 1 Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum. tmpaxzxjjyw_mondo_relaxed.owl Waardenburg syndrome type I|Waardenburg syndrome with dystopia canthorum|Waardenburg syndrome, type 1|Waardenburg syndrome type 1|WS1|Waardenburg's syndrome type 1 UMLS:C1847800|GARD:0005519|DOID:0110948|Orphanet:894|NCIT:C75008|Orphanet:3440|OMIM:193500|ICD10:E70.3 https://rarediseases.info.nih.gov/diseases/5519/waardenburg-syndrome-type-1 owl:Class MONDO:0008757 biolink:NamedThing alopecia universalis congenita The most severe form of alopecia areata, an inflammatory disease of the hair follicle, which is characterized by a complete loss of hair of the scalp and all the hair-bearing areas of the body. tmpaxzxjjyw_mondo_relaxed.owl alopecia universalis|ALUNC|alopecia universalis congenita|alopecia areata universalis|atrichia, generalized|AU ICD9:704.09|Orphanet:701|DOID:0050634|GARD:0000614|UMLS:C0263505|OMIM:610753|OMIM:203655|OMIM:104000|ICD10:L63.1|SCTID:86166000|MESH:C537055|MedDRA:10001767 owl:Class MONDO:0024864 biolink:NamedThing medium/large size posterior uveal melanoma tmpaxzxjjyw_mondo_relaxed.owl medium/large size posterior uveal melanoma UMLS:C0278868|NCIT:C9090 owl:Class MONDO:0010499 biolink:NamedThing Ritscher-Schinzel syndrome 2 Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene. tmpaxzxjjyw_mondo_relaxed.owl Ritscher-Schinzel syndrome type 2|Ritscher-Schinzel syndrome caused by mutation in CCDC22|RTSC2|CCDC22 Ritscher-Schinzel syndrome|Ritscher-Schinzel syndrome 2 Orphanet:7|DOID:0060572|OMIM:300963|UMLS:C4225419 owl:Class HGNC:14361 biolink:NamedThing IRX5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025376 biolink:NamedThing African horse sickness An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck. tmpaxzxjjyw_mondo_relaxed.owl Horsesickness, African|sickness, African horse|horse sickness, African|African horse Sicknesses|African Horsesickness|Plagues, equine|equine plague|horse Sicknesses, African|plague, equine|African Horsesicknesses|Sicknesses, African horse|Horsesicknesses, African|equine Plagues UMLS:C0001748|MESH:D000355 owl:Class MONDO:0001628 biolink:NamedThing tinea unguium A fungal infection of the nail, usually caused by dermatophytes; yeasts; or nondermatophyte molds. tmpaxzxjjyw_mondo_relaxed.owl cellulitis and abscess of trunk|onychomycosis due to dermatophyte|cellulitis and abscess|cellulitis and abscess of buttock|nail dermatophytosis|tinea unguium|onychomycosis|dermatophytic onychia|cellulitis and abscess of gluteal region|dermatophytosis of nail|cellulitis and abscess of finger|dermatophytic onychomycosis|cellulitis and abscess of finger and toe|cellulitis and abscess of face|cellulitis and abscess of upper arm and forearm UMLS:C0040261|UMLS:C0157690|UMLS:C0157698|ICD10:B35.1|UMLS:C4082762|NCIT:C112214|UMLS:C0157691|ICD9:681.9|DOID:13074|UMLS:C0157696|MESH:D014009|UMLS:C0157701 owl:Class MONDO:0009297 biolink:NamedThing familial renal glucosuria Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2). tmpaxzxjjyw_mondo_relaxed.owl Glys1|renal glucosuria|GLYS|familial renal glucosuria|renal glycosuria|renal diabetes|glycosuria, renal|SGLT2 deficiency DOID:9432|UMLS:C3245525|ICD9:271.4|EFO:1001151|MedDRA:10038457|OMIM:233100|Orphanet:69076|UMLS:C0017980|GARD:0007548|ICD10:E74.8|SCTID:267430007|MESH:D006030 https://rarediseases.info.nih.gov/diseases/7548/renal-glycosuria owl:Class MONDO:0012760 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl epilepsy, idiopathic generalized, susceptibility to, locus on chromosome 10|epilepsy, idiopathic generalized, susceptibility to, 5|EIG5 DOID:0111320|OMIM:611934 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0006916 biolink:NamedThing postcholecystectomy syndrome Abdominal symptoms after removal of the gallbladder. The common postoperative symptoms are often the same as those present before the operation, such as colic, bloating, nausea, and vomiting. There is pain on palpation of the right upper quadrant and sometimes jaundice. The term is often used, inaccurately, to describe such postoperative symptoms not due to gallbladder removal. tmpaxzxjjyw_mondo_relaxed.owl MESH:D017562|ICD10:K91.5|UMLS:C0152099|DOID:9740|SCTID:90782003|EFO:1001117|ICD9:576.0 owl:Class MONDO:0033545 biolink:NamedThing mitochondrial DNA depletion syndrome 19 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL DNA DEPLETION SYNDROME 19|MTDPS19 OMIM:618972 owl:Class MONDO:0020387 biolink:NamedThing double outlet right ventricle with subpulmonary ventricular septal defect tmpaxzxjjyw_mondo_relaxed.owl Double outlet right ventricle with transposition of the great arteries|Taussig-Bing syndrome|DORV-TGA|DORV with subpulmonary VSD Orphanet:99045|ICD10:Q20.1|UMLS:CN207267|SCTID:448794008 owl:Class MONDO:0030893 biolink:NamedThing leukoencephalopathy, progressive, infantile-onset, with or without deafness tmpaxzxjjyw_mondo_relaxed.owl LEPID OMIM:619147 owl:Class MONDO:0001312 biolink:NamedThing acute serous otitis media A acute transudative otitis media with thin, watery and sterile effusion. tmpaxzxjjyw_mondo_relaxed.owl acute non-suppurative otitis media - serous DOID:11557|UMLS:C0155415|ICD10:H65.0|ICD9:381.01|ICD10:H65.00|SCTID:194240006 owl:Class GO:0061526 biolink:NamedThing acetylcholine secretion The regulated release of acetylcholine by a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007313 biolink:NamedThing cheilitis glandularis Cheilitis glandularis (CG) is an uncommon chronic inflammatory disease of unknown origin characterized by macrocheilia and secretions of thick saliva from swollen labial minor salivary glands. tmpaxzxjjyw_mondo_relaxed.owl cheilitis glandularis UMLS:C0267034|MESH:C535921|SCTID:26374003|ICD10:K13.0|Orphanet:1221|OMIM:118330|GARD:0000412 https://rarediseases.info.nih.gov/diseases/412/cheilitis-glandularis owl:Class HGNC:8912 biolink:NamedThing PHB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000236 biolink:NamedThing oropharyngeal anthrax A anthrax infection that involves the oropharynx. tmpaxzxjjyw_mondo_relaxed.owl oropharynx anthrax infection DOID:0050059 owl:Class MONDO:0019377 biolink:NamedThing Mycoplasma encephalitis Mycoplasma encephalitis is a rare infectious encephalitis characterized by an acute onset of neurological signs and symptoms (e.g. altered consciousness, seizures, headaches, meningeal signs, behavioral changes) due to bacterial infection by Mycoplasma pneumoniae. Patients typically present unspecific signs and symptoms, such as fever, nausea, vomiting, fatigue, prior to onset of neurological manifestations and frequently have a history of a respiratory tract infection (e.g. pneumonia, bronchiolitis, pharyngitis). tmpaxzxjjyw_mondo_relaxed.owl Mycoplasma pneumoniae caused infectious encephalitis|Mycoplasma pneumoniae infectious encephalitis Orphanet:83482|ICD10:B96.0 owl:Class GO:0071375 biolink:NamedThing cellular response to peptide hormone stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. tmpaxzxjjyw_mondo_relaxed.owl cellular response to polypeptide hormone stimulus owl:Class MONDO:0009501 biolink:NamedThing metabolic myopathy due to lactate transporter defect Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase. tmpaxzxjjyw_mondo_relaxed.owl lactate transporter defect, myopathy due to|erythrocyte lactate transporter defect Orphanet:171690|ICD10:G72.8|UMLS:C1855577|MESH:C565449|SCTID:766715000|OMIM:245340 owl:Class MONDO:0011626 biolink:NamedThing acromegaloid features, overgrowth, cleft palate, and hernia tmpaxzxjjyw_mondo_relaxed.owl acromegaloid features, overgrowth, cleft palate and hernia|Aoch|acromegaloid features, overgrowth, cleft palate, and hernia UMLS:C1853757|MESH:C535656|OMIM:606049|GARD:0010194 https://rarediseases.info.nih.gov/diseases/10194/acromegaloid-features-overgrowth-cleft-palate-and-hernia owl:Class NCBITaxon:693762 biolink:NamedThing Schizaeales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class ECTO:7000068 biolink:NamedThing exposure to particulate matter A exposure event involving the interaction of an exposure receptor to particulate matter. tmpaxzxjjyw_mondo_relaxed.owl particulate matter exposure owl:Class MONDO:0007532 biolink:NamedThing Electroencephalographic peculiarity: occipital slow beta waves tmpaxzxjjyw_mondo_relaxed.owl Electroencephalographic peculiarity: occipital slow beta waves 2022-04-01 OMIM:130400 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0100021 biolink:NamedThing photosensitive occipital lobe epilepsy A childhood-onset epilepsy that is characterized by the presence of visually-induced focal occipital lobe seizures. A proportion of patients with this syndrome have developmental delays and learning difficulty. tmpaxzxjjyw_mondo_relaxed.owl 2018-06-22 22:48:33+00:00 owl:Class MONDO:0015389 biolink:NamedThing supernumerary nostril Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face. tmpaxzxjjyw_mondo_relaxed.owl accessory nostril|supernumerary naris UMLS:CN226671|SCTID:719163006|ICD10:Q30.8|Orphanet:141096|HP:0009934 owl:Class MONDO:0011376 biolink:NamedThing ventricular fibrillation, paroxysmal familial, type 1 tmpaxzxjjyw_mondo_relaxed.owl ventricular fibrillation, paroxysmal familial, 1|ventricular fibrillation, paroxysmal familial, type 1|ventricular fibrillation during myocardial infarction, susceptibility to|IVF|VF1 OMIM:603829|MESH:C567851|Orphanet:228140|UMLS:C2751898|ICD10:I49.0|SCTID:233915000 owl:Class MONDO:0004387 biolink:NamedThing luteoma of pregnancy A non-neoplastic and self-limited condition that occurs during pregnancy. It is characterized by proliferation of luteinized stromal cells that replace the normal ovarian stromal cells. It is usually manifested with bilateral multinodular ovarian masses. Treatment is not required. tmpaxzxjjyw_mondo_relaxed.owl leuteoma of pregnancy|luteoma UMLS:C1517842|UMLS:C0024167|NCIT:C40445|MESH:D018311|DOID:7880 owl:Class MONDO:0014023 biolink:NamedThing congenital muscular dystrophy with intellectual disability and severe epilepsy tmpaxzxjjyw_mondo_relaxed.owl congenital disorder of glycosylation, type Iu|CDG-Iu|congenital disorder of glycosylation type Iu|CDG syndrome type Iu|congenital disorder of glycosylation type 1u|CDG1U|CMD with intellectual disability and severe epilepsy|DPM2-CDG|carbohydrate deficient glycoprotein syndrome type Iu|CDG Iu Orphanet:329178|UMLS:C3554385|ICD10:E77.8|GARD:0012416|OMIM:615042|DOID:0080571 owl:Class MONDO:0008084 biolink:NamedThing neuropathy, congenital, with arthrogryposis multiplex tmpaxzxjjyw_mondo_relaxed.owl congenital non-progressive peripheral neuropathy with arthrogryposis multiplex|neuropathy, congenital, with arthrogryposis multiplex UMLS:C1834206|MESH:C535714|OMIM:162370|GARD:0010086 https://rarediseases.info.nih.gov/diseases/10086/neuropathy-congenital-with-arthrogryposis-multiplex owl:Class MONDO:0001404 biolink:NamedThing ecthyma An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl EFO:1000689|UMLS:C0013568|SCTID:85791004|ICD9:686.8|DOID:11907|MESH:D004473 owl:Class MONDO:0032897 biolink:NamedThing intellectual developmental disorder with hypotonia and behavioral abnormalities tmpaxzxjjyw_mondo_relaxed.owl IDDHBA|INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES OMIM:618748 owl:Class MONDO:0007685 biolink:NamedThing granulosis rubra nasi tmpaxzxjjyw_mondo_relaxed.owl granulosis rubra nasi ICD9:705.89|UMLS:C0263471|MESH:C562483|OMIM:139000|SCTID:22818000 owl:Class MONDO:0006993 biolink:NamedThing systolic heart failure Heart failure caused by abnormal myocardial contraction during systole leading to defective cardiac emptying. tmpaxzxjjyw_mondo_relaxed.owl ICD10:I50.20|EFO:1001207|MESH:D054143|SCTID:417996009|DOID:9651|UMLS:C1135191|ICD9:428.2|ICD10:I50.2|MedDRA:10074631|ICD9:428.20 owl:Class GO:0001992 biolink:NamedThing regulation of systemic arterial blood pressure by vasopressin The regulation of blood pressure mediated by the signaling molecule vasopressin. Vasopressin is produced in the hypothalamus, and affects vasoconstriction, and renal water transport. tmpaxzxjjyw_mondo_relaxed.owl vasopressin control of blood pressure|blood pressure regulation by vasopressin owl:Class NCBITaxon:9526 biolink:NamedThing Catarrhini tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022907 biolink:NamedThing cutaneous sclerosis tmpaxzxjjyw_mondo_relaxed.owl GARD:0009752 https://rarediseases.info.nih.gov/diseases/9752/cutaneous-sclerosis owl:Class GO:0051336 biolink:NamedThing regulation of hydrolase activity Any process that modulates the frequency, rate or extent of hydrolase activity, the catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. tmpaxzxjjyw_mondo_relaxed.owl hydrolase regulator owl:Class HGNC:3948 biolink:NamedThing FRAXD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007592 biolink:NamedThing familial recurrent peripheral facial palsy tmpaxzxjjyw_mondo_relaxed.owl facial palsy, familial recurrent peripheral|familial recurrent Bell palsy ICD10:G51.0|MESH:C565028|Orphanet:2809|OMIM:134200|UMLS:C1851399 owl:Class CHEBI:35507 biolink:NamedThing natural product fundamental parent tmpaxzxjjyw_mondo_relaxed.owl natural product fundamental parents owl:Class MONDO:0022634 biolink:NamedThing camptodactyly vertebral fusion tmpaxzxjjyw_mondo_relaxed.owl camptodactyly and sacral vertebral fusion (subtype)|camptodactyly and sacral vertebral fusion UMLS:C2931682|GARD:0001070|MESH:C537973 https://rarediseases.info.nih.gov/diseases/1070/camptodactyly-vertebral-fusion owl:Class NCBITaxon:28901 biolink:NamedThing Salmonella enterica tmpaxzxjjyw_mondo_relaxed.owl Salmonella choleraesuis|Bacillus cholerae-suis|Salmonella enterica ser. choleraesuis|Salmonella cholerae-suis PMID:10939679|PMID:15653930|PMID:15653929|PMID:10319519|GC_ID:11 NCBITaxon:2485994|NCBITaxon:2315835|NCBITaxon:2364711|NCBITaxon:2364701|NCBITaxon:2478519|NCBITaxon:2303560|NCBITaxon:2339223|NCBITaxon:2305020|NCBITaxon:2303573|NCBITaxon:2364722|NCBITaxon:2419823|NCBITaxon:2516347|NCBITaxon:2486731|NCBITaxon:2364694|NCBITaxon:2364676|NCBITaxon:2306989|NCBITaxon:2364767|NCBITaxon:2483349|NCBITaxon:2303556|NCBITaxon:2307000|NCBITaxon:2364708|NCBITaxon:2485256|NCBITaxon:2516349|NCBITaxon:2364734|NCBITaxon:2516339|NCBITaxon:2486726|NCBITaxon:2305025|NCBITaxon:2478517|NCBITaxon:2516334|NCBITaxon:2364686|NCBITaxon:2303570|NCBITaxon:2485992|NCBITaxon:2478520|NCBITaxon:2486724|NCBITaxon:2364761|NCBITaxon:2478513|NCBITaxon:2303568|NCBITaxon:2305024|NCBITaxon:2486725|NCBITaxon:2485242|NCBITaxon:2485246|NCBITaxon:2486723|NCBITaxon:2485249|NCBITaxon:2483350|NCBITaxon:2305030|NCBITaxon:2485987|NCBITaxon:2364740|NCBITaxon:591|NCBITaxon:2485240|NCBITaxon:2419822|NCBITaxon:2486728|NCBITaxon:2486973|NCBITaxon:2340790|NCBITaxon:2305034|NCBITaxon:2419819|NCBITaxon:2516335|NCBITaxon:2516340|NCBITaxon:2364750|NCBITaxon:2303566|NCBITaxon:2339224|NCBITaxon:2478514|NCBITaxon:2516346|NCBITaxon:2419821|NCBITaxon:2485988|NCBITaxon:2305022|NCBITaxon:2485995|NCBITaxon:2364724|NCBITaxon:2364681|NCBITaxon:2485243|NCBITaxon:2364707|NCBITaxon:2364730|NCBITaxon:2364768|NCBITaxon:2364674|NCBITaxon:2364706|NCBITaxon:2485993|NCBITaxon:2516336|NCBITaxon:2306999|NCBITaxon:2364709|NCBITaxon:2364727|NCBITaxon:2478518|NCBITaxon:2307001|NCBITaxon:2419811|NCBITaxon:2485986|NCBITaxon:2305461|NCBITaxon:2305451|NCBITaxon:2303561|NCBITaxon:2483348|NCBITaxon:2485244|NCBITaxon:2486729|NCBITaxon:2364690|NCBITaxon:2364698|NCBITaxon:2485247|NCBITaxon:2485251|NCBITaxon:2364746|NCBITaxon:2364700|NCBITaxon:2306988|NCBITaxon:2516344|NCBITaxon:2516348|NCBITaxon:2364682|NCBITaxon:2485996|NCBITaxon:2305026|NCBITaxon:2303563|NCBITaxon:2364728|NCBITaxon:2478526|NCBITaxon:2364675|NCBITaxon:2305023|NCBITaxon:2364671|NCBITaxon:2485241|NCBITaxon:2516345|NCBITaxon:2516343|NCBITaxon:2478511|NCBITaxon:2485248|NCBITaxon:2419816|NCBITaxon:2419814|NCBITaxon:2447895|NCBITaxon:2516350|NCBITaxon:2485991|NCBITaxon:2364733|NCBITaxon:2303564|NCBITaxon:2305021|NCBITaxon:2364738|NCBITaxon:2364760|NCBITaxon:2303565|NCBITaxon:2306017|NCBITaxon:2419815|NCBITaxon:2364714|NCBITaxon:2305029|NCBITaxon:2364739|NCBITaxon:2305027|NCBITaxon:2485253|NCBITaxon:2485990|NCBITaxon:2364685|NCBITaxon:2364710|NCBITaxon:2303562|NCBITaxon:2364691|NCBITaxon:2306987|NCBITaxon:2364729|NCBITaxon:2364765|NCBITaxon:2516338|NCBITaxon:2364693|NCBITaxon:2305031|NCBITaxon:2478525|NCBITaxon:2478521|NCBITaxon:2303575|NCBITaxon:2478523|NCBITaxon:2306016|NCBITaxon:2339225|NCBITaxon:2364680|NCBITaxon:2516333|NCBITaxon:2303567|NCBITaxon:2516337|NCBITaxon:2303554|NCBITaxon:2364751|NCBITaxon:2364725|NCBITaxon:2364753|NCBITaxon:2486730|NCBITaxon:2364672|NCBITaxon:2478515|NCBITaxon:2478516|NCBITaxon:2364735|NCBITaxon:2303574|NCBITaxon:2303569|NCBITaxon:2303572|NCBITaxon:2478527|NCBITaxon:2478528|NCBITaxon:2485252|NCBITaxon:2303558|NCBITaxon:2339222|NCBITaxon:2364716|NCBITaxon:2303559|NCBITaxon:2419817|NCBITaxon:2320429|NCBITaxon:2305460|NCBITaxon:2364715|NCBITaxon:2364718|NCBITaxon:2419820|NCBITaxon:2478510|NCBITaxon:2516332|NCBITaxon:2364720|NCBITaxon:2364717|NCBITaxon:2419812|NCBITaxon:2364696|NCBITaxon:2486727|NCBITaxon:2479845|NCBITaxon:2305032|NCBITaxon:2516341|NCBITaxon:2364712|NCBITaxon:2339226|NCBITaxon:2364726|NCBITaxon:2419813|NCBITaxon:2303557|NCBITaxon:2478512|NCBITaxon:2516342|NCBITaxon:2364732|NCBITaxon:2364754|NCBITaxon:2419818|NCBITaxon:2419824|NCBITaxon:2320430|NCBITaxon:2364662|NCBITaxon:2364677|NCBITaxon:2364731|NCBITaxon:2305028|NCBITaxon:2303555|NCBITaxon:2305033|NCBITaxon:2485989|NCBITaxon:2364692|NCBITaxon:2340792|NCBITaxon:2478522|NCBITaxon:2364699 ncbi_taxonomy owl:Class MONDO:0012388 biolink:NamedThing myopia 11, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl myopia 11, autosomal dominant|MYP11 MESH:C566490|OMIM:609994|UMLS:C1864941 owl:Class MONDO:0023538 biolink:NamedThing Kaplowitz-Bodurtha syndrome tmpaxzxjjyw_mondo_relaxed.owl congenital hypopituitarism and microphthalmia|hypopituitarism microphthalmia UMLS:C2931361|MESH:C536893 owl:Class HP:0000870 biolink:NamedThing Increased circulating prolactin concentration The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. tmpaxzxjjyw_mondo_relaxed.owl Prolactin excess|Hyperprolactinemia|Hyperprolactinaemia MSH:D006966|SNOMEDCT_US:237662005|UMLS:C0020514 human_phenotype owl:Class MONDO:0012499 biolink:NamedThing Buruli ulcer, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl BUD|Mycobacterium ulcerans, susceptibility to|Buruli ulcer, susceptibility to OMIM:610446|GARD:0009520 owl:Class MONDO:0001007 biolink:NamedThing chronic meningitis Chronic form of meningitis (disease). tmpaxzxjjyw_mondo_relaxed.owl meningitis (disease), chronic|chronic meningitis (disease) SCTID:21664006|ICD9:322.2|DOID:10341|UMLS:C0154653|ICD10:G03.1 owl:Class MONDO:0013319 biolink:NamedThing chromosome 4Q32.1-q32.2 triplication syndrome tmpaxzxjjyw_mondo_relaxed.owl chromosome 4Q32.1-q32.2 triplication syndrome UMLS:C3150857|OMIM:613603 owl:Class MONDO:0004639 biolink:NamedThing perinatal necrotizing enterocolitis A fulminating disease of neonates in which there is extensive mucosal ulceration, pseudomembrane formation, submucosal hemorrhage, and necrosis usually of the right colon, cecum, terminal ileum, and appendix, possibly due to perinatal intestinal ischemia and bacterial invasion. Progression can lead to necrosis, perforation and/or scarring of the intestinal tract. tmpaxzxjjyw_mondo_relaxed.owl enterocolitis, necrotizing|pseudomembranous enterocolitis in newborn|perinatal necrotising enterocolitis|necrotizing enterocolitis in fetus or newborn|enterocolitis necrotizing|necrotizing enterocolitis DOID:8677|GARD:0009767|UMLS:C0520459|SCTID:2707005|MESH:D020345|NCIT:C84915|SCTID:397729009 owl:Class MONDO:0005313 biolink:NamedThing necrotizing enterocolitis Necrotizing enterocolitis (NEC) is a devastating disease that affects mostly the intestine of premature infants. The wall of the intestine is invaded by bacteria, which cause local infection and inflammation that can ultimately destroy the wall of the bowel (intestine). Such bowel wall destruction can lead to perforation of the intestine and spillage of stool into the infant's abdomen, which can result in an overwhelming infection and death. tmpaxzxjjyw_mondo_relaxed.owl necrotizing enterocolitis in fetus or newborn|NEC|necrotizing enterocolitis UMLS:C0520459|ICD9:777.5|SCTID:2707005|NCIT:C84915|MESH:D020345|EFO:0003928|UMLS:C4082937|Orphanet:391673 owl:Class GO:0044853 biolink:NamedThing plasma membrane raft A membrane raft that is part of the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007854 biolink:NamedThing keratolytic winter erythema Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission. tmpaxzxjjyw_mondo_relaxed.owl Erythrokeratolysis hiemalis ichthyosis|Oudtshoorn skin disease|keratolytic winter erythema|Oudtshoorn skin|keratolytic WINTER erythema|Erythrokeratolysis hiemalis|KWE|Oudtshoorn disease OMIM:148370|GARD:0008275|SCTID:239064000|Orphanet:50943|MESH:C536155|ICD9:695.89|UMLS:C0406756 https://rarediseases.info.nih.gov/diseases/8275/keratolytic-winter-erythema owl:Class UBERON:0003409 biolink:NamedThing gland of tongue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006152 biolink:NamedThing colon inflammatory polyp A non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis. tmpaxzxjjyw_mondo_relaxed.owl inflammatory polyp of the colon|inflammatory polyp of colon|colonic inflammatory polyp NCIT:C5517|UMLS:C0267392|EFO:1000184 owl:Class HGNC:29092 biolink:NamedThing OBSL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020584 biolink:NamedThing anemia due to enzyme disorder Any form of anemia that results from the absence of, or the defective action of, any enzyme. tmpaxzxjjyw_mondo_relaxed.owl anemia due to enzyme disorder UMLS:C0494226|NCIT:C35472 owl:Class NCBITaxon:6947 biolink:NamedThing Prostigmata tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007391 biolink:NamedThing coxa vara Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental. tmpaxzxjjyw_mondo_relaxed.owl coxa vara|coxa vara (disease)|coxa vara, congenital coxa vara (disease) GARD:0008750|EFO:1001298|HP:0002812|MESH:D060905|OMIM:122750 owl:Class HGNC:12404 biolink:NamedThing TTPA tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:29918 biolink:NamedThing NDUFAF3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:46963 biolink:NamedThing 2-aminooctadecene-1,3-diol An aminodiol composed of any octadecene having hydroxy functional groups at positions 1 and 3 and an amino substituent at position 2. tmpaxzxjjyw_mondo_relaxed.owl 2-aminooctadecene-1,3-diol|2-aminooctadecene-1,3-diols owl:Class MONDO:0004453 biolink:NamedThing testicular yolk sac tumor, myxomatous pattern A yolk sac tumor that arises from the testis and is characterized by the presence of myxomatous tissue that contains collections of malignant cells with prominent nucleoli. tmpaxzxjjyw_mondo_relaxed.owl myxomatous pattern testicular yolk sac tumor|testicular yolk sac tumor, myxomatous pattern DOID:8081|UMLS:C1515309|NCIT:C39929 owl:Class MONDO:0008928 biolink:NamedThing cataract-ataxia-deafness syndrome Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Begeer syndrome|cataract ataxia deafness|cataract-ataxia-deafness-retardation syndrome|polyneuropathy, cataract, deafness syndrome|polyneuropathy-cataract-deafness syndrome|cataract ataxia deafness syndrome ICD10:G11.2|Orphanet:1368|MESH:C538283|UMLS:C0796123|OMIM:212710|GARD:0001141 owl:Class CL:0002600 biolink:NamedThing smooth muscle cell of trachea A smooth muscle cell of the trachea. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T05:50:28Z cell owl:Class HGNC:11934 biolink:NamedThing TNFSF4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003764 biolink:NamedThing pediatric leptomeningeal melanoma A melanoma that arises from leptomeningeal melanocytes and occurs in childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood meningeal melanoma|childhood leptomeningeal melanoma|pediatric meningeal melanoma UMLS:C1332976|DOID:6089|NCIT:C5318 owl:Class HGNC:4893 biolink:NamedThing HGF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043283 biolink:NamedThing silicosiderosis tmpaxzxjjyw_mondo_relaxed.owl silicosiderosis|iron miners lung|hematite pneumoconiosis|hematite miners' lung disease|siderosilicosis UMLS:C0018929|GARD:0008372|MESH:C537337|SCTID:34004002|EFO:1001855 owl:Class HGNC:2252 biolink:NamedThing CORO1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001783 biolink:NamedThing optic disc tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045184 biolink:NamedThing establishment of protein localization The directed movement of a protein to a specific location. tmpaxzxjjyw_mondo_relaxed.owl establishment of protein localisation|protein positioning|protein recruitment owl:Class MONDO:0009776 biolink:NamedThing spermatogenic failure 1 tmpaxzxjjyw_mondo_relaxed.owl Oligosynaptic infertility|spermatogenic failure 1|SPGF1|Oligochiasmatic infertility DOID:0070188|SCTID:236803007|UMLS:C0403810|OMIM:258150|MESH:C562902 owl:Class MONDO:0016481 biolink:NamedThing silver-Russell syndrome due to 11p15 microduplication tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201476|ICD10:Q87.1|Orphanet:231144 owl:Class CHEBI:86327 biolink:NamedThing antifungal drug Any antifungal agent used to prevent or treat fungal infections in humans or animals. tmpaxzxjjyw_mondo_relaxed.owl pharmaceutical fungicide|antifungal drugs|anti-fungal drug|anti-fungal drugs|anti-fungal medications|pharmaceutical fungicides|antifungal medications|antifungal medication|anti-fungal medication owl:Class MONDO:0001534 biolink:NamedThing ocular hyperemia tmpaxzxjjyw_mondo_relaxed.owl hyperemia of conjunctiva|hyperemia eye DOID:1248|UMLS:C0155169|SCTID:359610006 owl:Class HGNC:8805 biolink:NamedThing PDGFRL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019322 biolink:NamedThing pemphigus vegetans tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205981|ICD10:L10.1|UMLS:C0263316|SCTID:81285006|EFO:0008613|MedDRA:10057053|Orphanet:79479 owl:Class MONDO:0008219 biolink:NamedThing pemphigus vulgaris Pemphigus is a group of chronic autoimmune skin diseases characterized by blister formations on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which pemphigus vulgaris is the most frequent (75%). tmpaxzxjjyw_mondo_relaxed.owl familial pemphigus vulgaris|pemphigus vulgaris, familial MESH:C536645|EFO:0004719|Orphanet:704|ICD10:L10.0|NCIT:C34910|GARD:0007355|MedDRA:10052802|GARD:0004270|DOID:0060851|UMLS:C0030809|SCTID:49420001|OMIM:169610 Editor note: check familial vs acquired owl:Class MONDO:0100403 biolink:NamedThing acute myeloid leukemia, loss of chromosome 17p Any acute myeloid leukemia that has the chromosomal anomaly loss of chromosome 17p. (A cytogenetic abnormality that refers to the loss of all or part of the short arm of chromosome 17 (17p).) tmpaxzxjjyw_mondo_relaxed.owl AML, loss of chromosome 17p|AML, del(17p) NCIT:C36499 owl:Class MONDO:0032938 biolink:NamedThing basal ganglia calcification, idiopathic, 8, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE|IBGC8 OMIM:618824 owl:Class MONDO:0013239 biolink:NamedThing hereditary spastic paraplegia 41 Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia 41, autosomal dominant|autosomal dominant spastic paraplegia type 41|autosomal dominant spastic paraplegia 41|SPG41|hereditary spastic paraplegia type 41 OMIM:613364|SCTID:763069002|UMLS:CN203988|ICD10:G11.4|DOID:0110793|Orphanet:320355 owl:Class MONDO:0017804 biolink:NamedThing autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome is a rare neurologic disease characterized by global developmental delay, intellectual disability, multiple ischemic lesions in brain MRI, behavioral abnormalities, dystonia, choreic movements and pyramidal syndrome, facial dysmorphism (hypertelorism, arched palate, macroglossia), retinitis pigmentosa, scoliosis, seizures. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203767|Orphanet:314572 owl:Class MONDO:0019423 biolink:NamedThing X-linked intellectual disability, Stoll type X-linked intellectual disability, Stoll type is characterised by intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206179|Orphanet:85326|SCTID:718911005|ICD10:Q87.8 owl:Class MONDO:0005765 biolink:NamedThing foot and mouth disease A viral infectious disease that results in infection in cattle and swine, has material basis in foot-and-mouth disease virus, which is transmitted by contaminated fomites, or transmitted by ingestion of food contaminated with infected meat or animal products. The infection results in formation of vesicles in the mouth, or on the feet and has symptom lameness. tmpaxzxjjyw_mondo_relaxed.owl MESH:D005536|UMLS:C0016514|EFO:0007277 owl:Class MONDO:0029145 biolink:NamedThing orofacial cleft 8 tmpaxzxjjyw_mondo_relaxed.owl OFC8|Cleft 51P With or Without Cleft Palate, Nonsyndromic, 8|OROFACIAL CLEFT 8 OMIM:618149|DOID:0080401 owl:Class NCBITaxon:235 biolink:NamedThing Brucella abortus tmpaxzxjjyw_mondo_relaxed.owl Brucella melitensis bv. Abortus|Bacterium abortus|Brucella melitensis biovar Abortus GC_ID:11 ncbi_taxonomy owl:Class HGNC:2523 biolink:NamedThing CTRC tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:147538 biolink:NamedThing Pezizomycotina tmpaxzxjjyw_mondo_relaxed.owl Euascomycota GC_ID:1 ncbi_taxonomy owl:Class CL:0002261 biolink:NamedThing endothelial cell of viscerocranial mucosa An endothelial cell found in the mucosa associated with the facial skeleton. tmpaxzxjjyw_mondo_relaxed.owl FMA:70627 tmeehan 2010-09-14T10:40:12Z CL:1000446 cell owl:Class HGNC:4576 biolink:NamedThing GRID2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003141 biolink:NamedThing cerebellopontine angle embryonal tumor A central nervous system embryonal tumor, not otherwise specified arising from the cerebellopontine angle of the infratentorial brain. tmpaxzxjjyw_mondo_relaxed.owl primitive neuroectodermal tumor of the C-P angle|primitive neuroectodermal tumor of the cerebellar Pontine angle|primitive neuroectodermal neoplasm of the cerebellopontine angle|C-P angle primitive neuroectodermal tumor|cerebellopontine angle primitive neuroectodermal neoplasm|primitive neuroectodermal tumor of cerebellar Pontine angle|cerebellopontine angle primitive neuroectodermal|cerebellopontine angle primitive neuroectodermal tumor|primitive neuroectodermal neoplasm of the cerebellar Pontine angle|primitive neuroectodermal tumor of the cerebellopontine angle|cerebellar Pontine angle primitive neuroectodermal neoplasm|C-P angle primitive neuroectodermal neoplasm|primitive neuroectodermal tumor of C-P angle|primitive neuroectodermal neoplasm of cerebellar Pontine angle|primitive neuroectodermal neoplasm of C-P angle|cerebellar Pontine angle PNET|primitive neuroectodermal tumor of cerebellopontine angle|primitive neuroectodermal neoplasm of the C-P angle|cerebellopontine angle PNET|cerebellar Pontine angle primitive neuroectodermal tumor|primitive neuroectodermal neoplasm of cerebellopontine angle|C-P angle PNET UMLS:C1332904|DOID:4787|NCIT:C5436 owl:Class HGNC:7967 biolink:NamedThing NR1H4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001547 biolink:NamedThing atrophic nonflaccid tympanic membrane tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155471|DOID:12546|ICD10:H73.82|ICD9:384.82|SCTID:72052003 owl:Class MONDO:0021036 biolink:NamedThing keratosis pilaris A form of dry skin characterised by hair follicles plugged by scale. tmpaxzxjjyw_mondo_relaxed.owl KP SCTID:5132005|NCIT:C124070 owl:Class UBERON:0005993 biolink:NamedThing pulmonary valve anulus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0033259 biolink:NamedThing Non-motor seizure A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown. tmpaxzxjjyw_mondo_relaxed.owl 2020-11-28 14:43:08+00:00 This term may be used to code the non-motor seizures of a person who cannot confirm or exclude subjective seizure experiences that would aid more detailed classification as a generalized non-motor (absence) seizure or type of focal non-motor seizure. peter human_phenotype owl:Class NCBITaxon:787 biolink:NamedThing Rickettsia australis tmpaxzxjjyw_mondo_relaxed.owl PMID:11034486|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0009844 biolink:NamedThing pellagra-like syndrome tmpaxzxjjyw_mondo_relaxed.owl pellagra-like rash with neurologic manifestations|pellagra-like syndrome|pellagra like syndrome|pellagra-like skin rash-neurological manifestations syndrome GARD:0004267|Orphanet:2837|MESH:C538352|OMIM:260650|UMLS:C1850052 https://rarediseases.info.nih.gov/diseases/4267/pellagra-like-syndrome owl:Class MONDO:0012351 biolink:NamedThing zygodactyly type 1 tmpaxzxjjyw_mondo_relaxed.owl Zd1|syndactyly type 1, Weidenreich type|SD1a|SD1, Weidenreich type|Zygodactyly, Weidenreich type|zygodactyly type 1|ZYGODACTYLY 1|syndactyly type 1a UMLS:C1853294|MESH:C565223|OMIM:609815|Orphanet:93402|ICD10:Q70.3|Orphanet:295187 owl:Class MONDO:0006273 biolink:NamedThing low grade fibromyxoid sarcoma with giant collagen rosettes A low grade fibromyxoid sarcoma characterized by the presence of prominent collagen rosettes. tmpaxzxjjyw_mondo_relaxed.owl hyalinizing spindle cell tumor with giant Rosettes UMLS:C1708749|EFO:1000329|NCIT:C45203 owl:Class ECTO:0000001 biolink:NamedThing exposure to radiation A exposure event involving the interaction of an exposure receptor to radiation. tmpaxzxjjyw_mondo_relaxed.owl radiation exposure owl:Class HP:0030976 biolink:NamedThing Abnormal factor VIII activity A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. tmpaxzxjjyw_mondo_relaxed.owl 2017-05-10 22:59:20+00:00 robinp human_phenotype owl:Class BFO:0000031 biolink:NamedThing generically dependent continuant b is a generically dependent continuant = Def. b is a continuant that g-depends_on one or more other entities. (axiom label in BFO2 Reference: [074-001])|A continuant that is dependent on one or other independent continuant bearers. For every instance of A requires some instance of (an independent continuant type) B but which instance of B serves can change from time to time. tmpaxzxjjyw_mondo_relaxed.owl GenericallyDependentContinuant gdc the pdf file on your laptop, the pdf file that is a copy thereof on my laptop|The entries in your database are patterns instantiated as quality instances in your hard drive. The database itself is an aggregate of such patterns. When you create the database you create a particular instance of the generically dependent continuant type database. Each entry in the database is an instance of the generically dependent continuant type IAO: information content entity.|the sequence of this protein molecule; the sequence that is a copy thereof in that protein molecule. (iff (GenericallyDependentContinuant a) (and (Continuant a) (exists (b t) (genericallyDependsOnAt a b t)))) // axiom label in BFO2 CLIF: [074-001] owl:Class MONDO:0022981 biolink:NamedThing die Smulders droog van dijk syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001857 https://rarediseases.info.nih.gov/diseases/1857/die-smulders-droog-van-dijk-syndrome owl:Class MONDO:0002811 biolink:NamedThing main bronchus cancer A malignant neoplasm involving the main bronchus. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of main bronchus|cancer of main bronchus|malignant main bronchus neoplasm|Ca main bronchus|main bronchus cancer DOID:3924|ICD10:C34.0|UMLS:C0153490|SCTID:372065009|ICD9:162.2 owl:Class MONDO:0004392 biolink:NamedThing intracranial extraskeletal myxoid chondrosarcoma An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium. tmpaxzxjjyw_mondo_relaxed.owl intracranial extraskeletal myxoid chondrosarcoma|intracranial chondrosarcoma DOID:7903|NCIT:C5462|UMLS:C1334238 owl:Class MONDO:0019528 biolink:NamedThing IgG4-related hepatopathy Inflammatory pseudotumor (IPT) of the liver is a rare benign tumor-like lesion. tmpaxzxjjyw_mondo_relaxed.owl inflammatory pseudotumor of the liver Orphanet:90003|ICD10:K75.8 owl:Class MONDO:0015128 biolink:NamedThing primary adrenal insufficiency A hormonal disorder that occurs when the adrenal glands fail to release adequate amounts of glucocorticoids (cortisol), mineralocorticoids (aldosterone, 11-deoxycorticosterone), and androgens (dehydroepiandrosterone) to meet physiologic needs, despite release of ACTH from the pituitary. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:101958|UMLS:C3887896|NCIT:C113172|MedDRA:10052381 owl:Class MONDO:0016140 biolink:NamedThing sarcoglycanopathy Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency. tmpaxzxjjyw_mondo_relaxed.owl qualitative or quantitative defects of sarcoglycan Orphanet:207052|MESH:D058088 owl:Class HGNC:8727 biolink:NamedThing PCM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33906 biolink:NamedThing cobalt corrinoid tmpaxzxjjyw_mondo_relaxed.owl cobalt-corrinoids|cobalt corrinoids owl:Class CHEBI:33909 biolink:NamedThing metallotetrapyrrole tmpaxzxjjyw_mondo_relaxed.owl metal-tetrapyrrole complex|metallotetrapyrroles|metal-tetrapyrrole owl:Class MONDO:0016526 biolink:NamedThing trisomy 9p Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations. tmpaxzxjjyw_mondo_relaxed.owl Duplication of the short arm of chromosome 9|trisomy of the short arm of chromosome 9|Duplication 9p|trisomy type 9p ICD10:Q92.2|Orphanet:236|UMLS:C0265428 owl:Class MONDO:0019640 biolink:NamedThing posterior urethral valve Posterior urethral valve (PUV) is the most common anomaly of fetal lower urinary tract obstruction (LUTO)and is characterized by an abnormal congenital obstructing membrane that is located within the posterior urethra associated with significant obstruction of the male bladder restricting normal bladder emptying. tmpaxzxjjyw_mondo_relaxed.owl congenital posterior urethral valves|PUV|Posterior urethral valves NCIT:C99021|UMLS:C0238506|ICD10:Q64.2|SCTID:253900005|GARD:0007439|UMLS:CN227669|MedDRA:10036369|ICD9:753.8|Orphanet:93110 owl:Class PATO:0002288 biolink:NamedThing decreased elasticity An elasticity which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013857 biolink:NamedThing alar cleft, isolated tmpaxzxjjyw_mondo_relaxed.owl alar cleft, isolated OMIM:614687|UMLS:C3553476 owl:Class HGNC:6971 biolink:NamedThing MDH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014507 biolink:NamedThing Catel-Manzke syndrome Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. tmpaxzxjjyw_mondo_relaxed.owl Pierre Robin syndrome with hyperphalangy and clinodactyly|Catel-Manzke syndrome|Catel Manzke syndrome|Pierre Robin sequence-hyperphalangy-clinodactyly syndrome|index finger anomaly-Pierre Robin syndrome|Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome|micrognathia digital syndrome|hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome|Palatodigital syndrome Catel-Manzke type|CATMANS|index finger anomaly with Pierre Robin syndrome|Palatodigital syndrome, Catel-Manzke type ICD10:Q87.8|MESH:C535347|UMLS:C1844887|Orphanet:1388|GARD:0000028|SCTID:722383001|OMIM:616145 https://rarediseases.info.nih.gov/diseases/28/catel-manzke-syndrome owl:Class HGNC:4452 biolink:NamedThing GPC4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014356 biolink:NamedThing mitochondrial complex III deficiency nuclear type 7 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene. tmpaxzxjjyw_mondo_relaxed.owl UQCC2 mitochondrial complex III deficiency|mitochondrial complex III deficiency caused by mutation in UQCC2|mitochondrial complex III deficiency, nuclear type 7|MC3DN7|mitochondrial Complex 3 deficiency, nuclear type 7 DOID:0080116|OMIM:615824|Orphanet:1460|UMLS:C4014408 owl:Class UBERON:0036657 biolink:NamedThing wall of fourth ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:10379 biolink:NamedThing Rhadinovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012228 biolink:NamedThing myopia 8 tmpaxzxjjyw_mondo_relaxed.owl myopia 8|MYP8 OMIM:609257|MESH:C563760|UMLS:C1836505 owl:Class GO:0098657 biolink:NamedThing import into cell The directed movement of some substance from outside of a cell into a cell. This may occur via transport across the plasma membrane or via endocytosis. tmpaxzxjjyw_mondo_relaxed.owl uptake owl:Class UBERON:0007142 biolink:NamedThing left internal carotid artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011039 biolink:NamedThing atrophia maculosa varioliformis cutis, familial tmpaxzxjjyw_mondo_relaxed.owl atrophia MACULOSA VARIOLIFORMIS cutis, familial|AMVC|atrophia maculosa varioliformis cutis, familial|varioliform macular atrophy of the skin UMLS:C1832465|OMIM:601341|MESH:C563349 owl:Class CHEBI:35789 biolink:NamedThing oxo steroid tmpaxzxjjyw_mondo_relaxed.owl oxo steroids|oxosteroids|ketosteroids|keto steroids owl:Class MONDO:8000005 biolink:NamedThing fungal discitis Discitis caused by infection with fungi. tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr1p35.2 biolink:NamedThing 1p35.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 32300000 29900000 hg38 owl:Class FOODON:03460141 biolink:NamedThing food modification process tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0141 LanguaL curation note: Used when the food product underwent mechanical, chemical or enzymatic modification that has affected the texture, flavor or other characteristic of the product. owl:Class FOODON:03460111 biolink:NamedThing food treatment process Used to specifically characterize a food product based on the treatment or processes applied to the product or any indexed ingredient. The processes include adding, substituting or removing components or modifying the food or component, e.g., through fermentation. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0111 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. owl:Class MONDO:0020845 biolink:NamedThing progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 tmpaxzxjjyw_mondo_relaxed.owl progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5|progressive external ophthalmoplegia, autosomal recessive 5|PEOB5 OMIM:618098|DOID:0111524 owl:Class MONDO:0005204 biolink:NamedThing primary antiphospholipid syndrome An antiphospholipid syndrome that occurs as an isolated disorder. tmpaxzxjjyw_mondo_relaxed.owl ICD9:795.79|NCIT:C61283|MESH:D016736|SCTID:239892009|UMLS:C0409980|EFO:0002689 owl:Class GO:0097014 biolink:NamedThing ciliary plasm All of the contents of a cilium, excluding the plasma membrane surrounding the cilium. tmpaxzxjjyw_mondo_relaxed.owl cilium plasm|cilium cytoplasm|cilial cytoplasm|microtubule-based flagellar cytoplasm|microtubule-based flagellum matrix|ciliary cytoplasm|microtubule-based flagellar matrix|microtubule-based flagellum cytoplasm owl:Class NCBITaxon:92860 biolink:NamedThing Pleosporales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:134361|NCBITaxon:371109 ncbi_taxonomy owl:Class MONDO:0002387 biolink:NamedThing liver angiosarcoma A malignant vascular neoplasm arising from the liver. tmpaxzxjjyw_mondo_relaxed.owl hepatic hemangiosarcoma|angiosarcoma of the liver|liver angiosarcoma (disease)|primary angiosarcoma of liver|liver hemangiosarcoma|angiosarcoma of liver|Lias|hepatic angiosarcoma|primary angiosarcoma of the liver|hemangiosarcoma of liver|angiosarcoma (disease) of liver|hemangiosarcoma of the liver|liver angiosarcoma DOID:268|GARD:0005813|ICDO:9124/3|ICD10:C22.3|SCTID:109844006|NCIT:C4438|ONCOTREE:LIAS|UMLS:C0345907 https://rarediseases.info.nih.gov/diseases/5813/angiosarcoma-of-the-liver owl:Class MONDO:0009316 biolink:NamedThing hair defect-photosensitivity-intellectual disability syndrome Calderon-Gonzalez-Cantu syndrome is characterized by the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit without a demonstrable metabolic aberration. tmpaxzxjjyw_mondo_relaxed.owl hair defect with photosensitivity and mental retardation|Calderon Gonzalez-Cantu syndrome|hair defect with photosensitivity and intellectual disability|kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation|Calderón-González-Cantu syndrome|kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive intellectual disability MESH:C537628|OMIM:234030|GARD:0002582|Orphanet:1408 owl:Class NCBITaxon:2726946 biolink:NamedThing Cladosporiales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006042 biolink:NamedThing meningeal tuberculosis A bacterial infection of the membranes covering the brain and the spinal cord caused by Mycobacterium tuberculosis. tmpaxzxjjyw_mondo_relaxed.owl TB meningitis EFO:1000039|UMLS:C0041318|NCIT:C84888|GARD:0007828|MESH:D014390 owl:Class HGNC:11802 biolink:NamedThing TIA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6182 biolink:NamedThing Schistosoma japonicum tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6181 biolink:NamedThing Schistosoma tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:18040 biolink:NamedThing ARID1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017506 biolink:NamedThing congenital absence/hypoplasia of thumb, unilateral Congenital absence/hypoplasia of thumb, unilateral is a rare developmental defect during embryogenesis characterized by the unilateral underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. tmpaxzxjjyw_mondo_relaxed.owl thumb hypodactyly, unilateral|thumb oligodactyly, unilateral ICD10:Q71.3|Orphanet:295110 owl:Class NCBITaxon:188547 biolink:NamedThing Cheyletoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2547934 biolink:NamedThing Blastocystidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007942 biolink:NamedThing Mammastatin tmpaxzxjjyw_mondo_relaxed.owl Mammastatin OMIM:154370 owl:Class MONDO:0012444 biolink:NamedThing neurodegeneration with brain iron accumulation 2B tmpaxzxjjyw_mondo_relaxed.owl early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline|neurodegeneration with brain iron accumulation type 2B|neuroaxonal dystrophy, atypical|neurodegeneration with brain iron accumulation type 2b|NBIA2b|neurodegeneration with brain iron accumulation 2B|atypical neuroaxonal dystrophy|neurodegeneration with brain iron accumulation, Pla2G6-related|Karak syndrome|NBIA2B|neurodegeneration with brain iron accumulation, Pla2g6-related GARD:0010688|ICD10:G23.0|OMIM:610217|Orphanet:35069|DOID:0110736 NBIA2A is caused by homozygous or compound heterozygous mutation in the PLA2G6 gene; See also NBIA2B (610217), an overlapping disorder with later onset. owl:Class MONDO:0015478 biolink:NamedThing paramedian facial cleft tmpaxzxjjyw_mondo_relaxed.owl Tessier number 1-1 and 2-12 facial cleft Orphanet:155867|ICD10:Q18.8 owl:Class HP:0002066 biolink:NamedThing Gait ataxia A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. tmpaxzxjjyw_mondo_relaxed.owl Ataxic gait|Inability to coordinate movements when walking|Ataxia of gait SNOMEDCT_US:25136009|UMLS:C0751837|MSH:D020234 HP:0002379 human_phenotype owl:Class HP:0001288 biolink:NamedThing Gait disturbance The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. tmpaxzxjjyw_mondo_relaxed.owl Gait disturbances|Abnormal walk|Impaired gait|Abnormal gait|Gait abnormalities|Gait difficulties SNOMEDCT_US:22325002|UMLS:C0575081 If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. HP:0006953 human_phenotype owl:Class HGNC:15718 biolink:NamedThing APCDD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002359 biolink:NamedThing periosteal chondroma A benign neoplasm of bone surface composed of hyaline cartilage. It arises beneath the periosteum and is characterized by the presence of chondrocytes, a lobulated growth pattern, and calcification. tmpaxzxjjyw_mondo_relaxed.owl juxtacortical chondroma|juxtacortical chondroma (morphologic abnormality)|periosteal chondroma UMLS:C0334548|DOID:2601|NCIT:C4302|ICDO:9221/0 owl:Class MONDO:0032885 biolink:NamedThing spondyloepimetaphyseal dysplasia, Isidor-Toutain type tmpaxzxjjyw_mondo_relaxed.owl SEMDIST|SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE OMIM:618728 owl:Class MONDO:0015668 biolink:NamedThing hereditary dentin defect The hereditary dentin disorders, dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), comprise a group of conditions characterized by abnormal dentin structure affecting either the primary or both the primary and secondary dentitions. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:167759|ICD10:K00.5 owl:Class GO:0015145 biolink:NamedThing monosaccharide transmembrane transporter activity Enables the transfer of a monosaccharide from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1477 biolink:NamedThing CAPN10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019874 biolink:NamedThing distal trisomy 7p Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported. tmpaxzxjjyw_mondo_relaxed.owl trisomy 7pter|distal duplication 7p|telomeric duplication 7p|distal trisomy type 7p ICD10:Q92.3|SCTID:763276000|Orphanet:96074 owl:Class MONDO:0024376 biolink:NamedThing sleep disorder, initiating and maintaining sleep tmpaxzxjjyw_mondo_relaxed.owl disorders of initiating and maintaining sleep SCTID:194437008 owl:Class HGNC:13013 biolink:NamedThing KAT6A tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:7197 biolink:NamedThing Psychodidae tmpaxzxjjyw_mondo_relaxed.owl sandflies and mothflies GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002783 biolink:NamedThing Shwartzman phenomenon Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (endotoxins) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous thrombosis and necrosis. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of immune system, coagulation, fibrinolysis, and blood flow. tmpaxzxjjyw_mondo_relaxed.owl Shwartzman reaction|Shwartzman reaction (function) DOID:3825|UMLS:C0037018|MESH:D012790|GARD:0007636 https://rarediseases.info.nih.gov/diseases/7636/shwartzman-phenomenon owl:Class MONDO:0020759 biolink:NamedThing epilepsy, childhood absence, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl epilepsy, childhood absence, susceptibility to, 1|ECA1 OMIM:600131 owl:Class MONDO:0005925 biolink:NamedThing pneumonic pasteurellosis Bovine respiratory disease found in animals that have been shipped or exposed to cattle recently transported. The major agent responsible for the disease is mannheimia haemolytica and less commonly, pasteurella multocida or haemophilus somnus. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the lung. They are considered opportunistic pathogens following stress, physiological and/or a viral infection. The resulting bacterial fibrinous bronchopneumonia is often fatal. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036969|EFO:0007449|MESH:D012766 owl:Class MONDO:0018546 biolink:NamedThing serotonin syndrome Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs). tmpaxzxjjyw_mondo_relaxed.owl serotonin storm|serotonin toxidrome|serotonin toxicity|serotonergic syndrome ICD9:333.99|MESH:D020230|Orphanet:43116|EFO:1001842|MedDRA:10040108|SCTID:371089000 owl:Class UBERON:0035053 biolink:NamedThing interlobular duct of salivary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019427 biolink:NamedThing X-linked neurodegenerative syndrome, Bertini type X-linked neurodegenerative syndrome, Bertini type is characterised by generalised hypotonia, psychomotor deficit, congenital ataxia and recurrent bronchopulmonary infections. It has been described in seven males from three generations of a family. Five of them died during the first years of life and the remaining patients developed myoclonic encephalopathy and macular degeneration. The locus has been mapped to Xp22.33-pter. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:85334|SCTID:718849008|ICD10:G31.8|UMLS:CN206185 owl:Class MONDO:0007668 biolink:NamedThing globulin anomaly involving beta (2A)-globulin tmpaxzxjjyw_mondo_relaxed.owl globulin anomaly involving beta (2A)-globulin UMLS:C1842009|OMIM:137900|MESH:C564229 owl:Class MONDO:0054551 biolink:NamedThing avascular necrosis of femoral head, primary, 2 tmpaxzxjjyw_mondo_relaxed.owl avascular necrosis of femoral head, primary, 2|ANFH2 OMIM:617383 owl:Class MONDO:0006038 biolink:NamedThing indeterminate colitis It describes patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy. tmpaxzxjjyw_mondo_relaxed.owl colitis of indeterminate type ICD9:558.9|UMLS:C0341332|ICD10:K52.3|NCIT:C27110|SCTID:235746007|EFO:1000034 owl:Class GO:0031344 biolink:NamedThing regulation of cell projection organization Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. tmpaxzxjjyw_mondo_relaxed.owl regulation of cell projection organisation|regulation of cell projection organization and biogenesis owl:Class MONDO:0006553 biolink:NamedThing Fox-Fordyce disease Fox-Fordyce disease isa chronic skin diseasemost common in women aged 13-35 years.It is characterized by the development of intense itching in the underarm area, the pubic area, and around the nipple of the breast as a result of perspiration which becomes trapped in the sweat gland and surrounding areas. The cause is unknown,but heat, humidity, and stress may play a role. Treatment may include the use of retinoids, antibiotics, and immunosuppressants. tmpaxzxjjyw_mondo_relaxed.owl apocrine miliaria|Fox-Fordyce disease|miliaria, apocrine|Fox Fordyce disease|Fox-Fordyce syndrome ICD10:L75.2|Wikipedia:Fox-Fordyce_disease|MESH:D005588|UMLS:C0016632|GARD:0006462|SCTID:65038009|DOID:1381|EFO:1000703|ICD9:705.82|NCIT:C84716 https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease owl:Class MONDO:0017039 biolink:NamedThing drug or radiation exposure-related interstitial lung disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202350|ICD10:J70.3|ICD10:J70.1|ICD10:J70.2|Orphanet:264978|ICD10:J70.0|ICD10:J70.4 owl:Class HP:0000737 biolink:NamedThing Irritability A proneness to anger, i.e., a condition of being easily bothered or annoyed. tmpaxzxjjyw_mondo_relaxed.owl Irritability|Irritable UMLS:C2700617 human_phenotype owl:Class MONDO:0056795 biolink:NamedThing X-linked spermatogenic failure 1 tmpaxzxjjyw_mondo_relaxed.owl Germinal cell aplasia|Del Castillo syndrome|spermatogenic failure, X-linked, 1|spermatogenic failure, X-linked, type 1|Sertoli cell-only syndrome|SPGFX1 DOID:0070189|OMIM:305700 https://github.com/monarch-initiative/mondo/issues/3633 owl:Class MONDO:0018873 biolink:NamedThing anterior cutaneous nerve entrapment syndrome Anterior cutaneous nerve entrapment syndrome (ACNES) is a chronic neuropathic pain syndrome of the abdominal wall caused by entrapment of anterior cutaneous branches of 7 to 12th intercostal nerves along the lateral border of the anterior rectus abdominis fascia causing severe pain and tenderness of the involved dermatome. tmpaxzxjjyw_mondo_relaxed.owl ACNES|rectus abdominis syndrome|intercostal nerve syndrome Orphanet:51890|ICD10:G58.0|UMLS:CN776944 owl:Class MONDO:0011539 biolink:NamedThing nemaline myopathy 5 Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community. tmpaxzxjjyw_mondo_relaxed.owl nemaline myopathy type 5|TNNT1 nemaline myopathy|nemaline myopathy, caused by mutation in the troponin t1 gene|NEM5|nemaline myopathy 5, Amish type|ANM|nemaline myopathy caused by mutation in TNNT1|Amish nemaline myopathy|nemaline myopathy, Amish type|nemaline myopathy 5 Orphanet:607|ICD10:G71.2|Orphanet:98902|GARD:0008334|UMLS:C1854380|MESH:C538397|OMIM:605355|DOID:0110936 owl:Class GO:0006968 biolink:NamedThing cellular defense response A defense response that is mediated by cells. tmpaxzxjjyw_mondo_relaxed.owl intracellular defense response|intracellular defence response|cellular defence response owl:Class CHEBI:52254 biolink:NamedThing apatite A phosphate mineral with the general formula Ca5(PO4)3X where X = OH, F or Cl. tmpaxzxjjyw_mondo_relaxed.owl hydroxyapatite owl:Class CHEBI:46723 biolink:NamedThing phosphate mineral tmpaxzxjjyw_mondo_relaxed.owl phosphate minerals owl:Class HGNC:12771 biolink:NamedThing CCN6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017203 biolink:NamedThing chronic endophthalmitis Chronic form of endophthalmitis. tmpaxzxjjyw_mondo_relaxed.owl endophthalmitis, chronic UMLS:C0154774|SCTID:13978000|Orphanet:279891|MedDRA:10008864|ICD10:H44.1|ICD9:360.03|ICD10:H44.0|DOID:10697 owl:Class MONDO:0017227 biolink:NamedThing autoimmune pancreatitis type 1 Type 1 autoimmune pancreatitis is a form of autoimmune pancreatitis seen in elderly males (>60 years) and presenting with abdominal pain, steatorrhea, obstructive jaundice and other organ (bile duct, kidneys and retroperitoneum) involvement. It is thought to be due to an immunoglobulin G4 (IgG4)-associated systemic disease. tmpaxzxjjyw_mondo_relaxed.owl AIP type 1|IgG4-related pancreatitis|lymphoplasmacytic sclerosing pancreatitis|autoimmune pancreatitis type 1 SCTID:722872000|Orphanet:280302|UMLS:C4302243|UMLS:CN202712|ICD10:K86.1|PMID:25985088|EFO:1000780 owl:Class MONDO:0017729 biolink:NamedThing metachromatic leukodystrophy, late infantile form tmpaxzxjjyw_mondo_relaxed.owl MLD, late infantile form|arylsulfatase A deficiency, late infantile form Orphanet:309256|ICD10:E75.2 owl:Class GO:0071482 biolink:NamedThing cellular response to light stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013631 biolink:NamedThing lung cancer susceptibility 5 tmpaxzxjjyw_mondo_relaxed.owl lung cancer susceptibility 5|LNCR5 OMIM:614210|UMLS:C3280156 owl:Class HP:0000316 biolink:NamedThing Hypertelorism Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). tmpaxzxjjyw_mondo_relaxed.owl Increased distance between eye sockets|Wide-set eyes|Increased distance between eyes|Widened interpupillary distance|Increased interpupillary distance|Widely spaced eyes|Excessive orbital separation|Ocular hypertelorism SNOMEDCT_US:22006008|UMLS:C0020534|MSH:D006972|SNOMEDCT_US:194021007 HP:0004657|HP:0000578|HP:0007871|HP:0002001 human_phenotype owl:Class HGNC:4877 biolink:NamedThing HESX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005279 biolink:NamedThing pulmonary embolism The obstruction of the pulmonary artery or one of its branches by an embolus, sometimes associated with infarction of the lung. tmpaxzxjjyw_mondo_relaxed.owl pulmonary embolism (disease)|pulmonary artery embolism|pulmonary embolism|pulmonary embolus|embolism, pulmonary pulmonary embolism (disease) MESH:D011655|ICD10:I26.99|EFO:0003827|ICD10:I26|UMLS:C0034065|NCIT:C50713|SCTID:59282003|DOID:9477|ICD9:415.19|HP:0002204 owl:Class MONDO:0017947 biolink:NamedThing ABeta amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage. tmpaxzxjjyw_mondo_relaxed.owl cerebral amyloid angiopathy, APP-related, Italian variant|hereditary cerebral hemorrhage with amyloidosis, Italian type|HCHWA, Italian type|ABetaE22K amyloidosis ICD10:E85.4+|OMIM:605714|ICD10:I68.0*|Orphanet:324713 owl:Class MONDO:0008873 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism, type 3 tmpaxzxjjyw_mondo_relaxed.owl microcephalic osteodysplastic primordial dwarfism, type III|Mopd, Caroline Crachami type|Mopd, Sicilian fairy type|osteodysplastic primordial dwarfism, type 3|microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type|microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type|Mopd 3 UMLS:C1859439|OMIM:210730|Orphanet:2636|MESH:C537320 owl:Class MONDO:0008605 biolink:NamedThing triphalangeal thumb, Nonopposable tmpaxzxjjyw_mondo_relaxed.owl triphalangeal thumb non opposable|triphalangeal thumb, Nonopposable|non-opposable triphalangeal thumb|TPT MESH:C536562|OMIM:190600|GARD:0005288|UMLS:C2931238 owl:Class MONDO:0007814 biolink:NamedThing immune deficiency, familial variable tmpaxzxjjyw_mondo_relaxed.owl immune deficiency, familial variable Orphanet:1572|UMLS:C1840266|OMIM:146830|GARD:0002984|MESH:C564136 https://rarediseases.info.nih.gov/diseases/2984/immune-deficiency-familial-variable owl:Class MONDO:0015810 biolink:NamedThing primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl ICD10:C84.4|Orphanet:178522 owl:Class MONDO:0003399 biolink:NamedThing pineal region yolk sac tumor A yolk sac tumor that involves the pineal body. tmpaxzxjjyw_mondo_relaxed.owl endodermal sinus tumor of pineal region|yolk Sac tumor of the pineal region|pineal endodermal sinus neoplasm|pineal region endodermal sinus neoplasm|pineal body yolk sac tumor|pineal endodermal sinus tumor|endodermal sinus tumor of the pineal region|pineal region yolk sac tumor|yolk Sac tumor of pineal region|pineal region endodermal sinus tumor|pineal region yolk Sac neoplasm UMLS:C1335420|NCIT:C6752|DOID:5341 owl:Class ECTO:4000028 biolink:NamedThing exposure to freezing air A exposure event involving the interaction of an exposure receptor to frozen of air. tmpaxzxjjyw_mondo_relaxed.owl exposure to frozen in air owl:Class ECTO:0000980 biolink:NamedThing exposure to temperature of air in surroundings A exposure event involving the interaction of an exposure receptor to temperature of air. tmpaxzxjjyw_mondo_relaxed.owl temperature of air exposure owl:Class MONDO:0014696 biolink:NamedThing cerebrooculofacioskeletal syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl COFS3|cerebrooculofacioskeletal syndrome 3|cerebrooculofacioskeletal syndrome type 3 Orphanet:1466|MESH:C565035|UMLS:C1851443|OMIM:616570|Orphanet:191 owl:Class MONDO:0017948 biolink:NamedThing ABetaA21G amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients. tmpaxzxjjyw_mondo_relaxed.owl cerebral amyloid angiopathy, APP-related, Flemish variant|ABeta amyloidosis, Flemish type|HCHWA, Flemish type|hereditary cerebral hemorrhage with amyloidosis, Flemish type|ABetaA21G-related amyloidosis ICD10:E85.4+|Orphanet:324718|OMIM:605714|ICD10:I68.0* owl:Class MONDO:0002778 biolink:NamedThing epidural spinal canal meningioma A meningioma that arises in the epidural spinal canal space. tmpaxzxjjyw_mondo_relaxed.owl meningioma of the epidural spinal canal|meningioma of epidural spinal canal UMLS:C1333417|DOID:3809|NCIT:C5310 owl:Class UBERON:0010199 biolink:NamedThing bona-fide anatomical boundary tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043141 biolink:NamedThing microdontia hypodontia short stature tmpaxzxjjyw_mondo_relaxed.owl microdontia, hypodontia, short bulbous roots and root canals with strabismus, short stature, and borderline mentality UMLS:C2931532|GARD:0003638|MESH:C537553 owl:Class MONDO:0010440 biolink:NamedThing autism, susceptibility to, X-linked 4 tmpaxzxjjyw_mondo_relaxed.owl susceptibility to X-linked autism 4|autism, susceptibility to, X-linked type 4|chromosome Xp22 deletion syndrome|susceptibility to autism, X-linked|AUTSX4|autism, susceptibility to, X-linked 4|X-linked susceptibility to autism-4 OMIM:300830|GARD:0003775 https://rarediseases.info.nih.gov/diseases/3775/x-linked-susceptibility-to-autism-4 owl:Class HGNC:24160 biolink:NamedThing BEAN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010295 biolink:NamedThing Aplasia/Hypoplasia of the tongue Absence or underdevelopment of the tongue. tmpaxzxjjyw_mondo_relaxed.owl Lingual aplasia/hypoplasia UMLS:C4023916|UMLS:C4280384 peter 2009-07-12T11:41:04Z human_phenotype owl:Class HP:0030809 biolink:NamedThing Abnormal tongue morphology Any structural anomaly of the tongue. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4280755 human_phenotype owl:Class UBERON:0010561 biolink:NamedThing pedal digit 5 metatarsal cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043346 biolink:NamedThing progressive transformation of germinal centers Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. Theneck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma. tmpaxzxjjyw_mondo_relaxed.owl PTGC|progressive transformation of Germinal centers GARD:0010712|NCIT:C38408|MESH:C548085 Editor note: represents a finding in NCIT owl:Class HGNC:3024 biolink:NamedThing DRD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009103 biolink:NamedThing diaphragmatic hernia 2 tmpaxzxjjyw_mondo_relaxed.owl diaphragmatic hernia 2|DIH2 Orphanet:2140|OMIM:222400|MESH:C565629 owl:Class MONDO:0017499 biolink:NamedThing congenital absence of both forearm and hand, bilateral Congenital absence of both forearm and hand, bilateral is a rare developmental defect during embryogenesis characterized by a bilateral, transverse absence of the radius and ulna (of varying terminal lengths), as well as all the elements composing the hand. tmpaxzxjjyw_mondo_relaxed.owl radio-ulnar terminal transverse meromelia, bilateral ICD10:Q71.2|ICD10:Q71.23|Orphanet:295095 owl:Class NCBITaxon:86056 biolink:NamedThing Rhinocladiella mackenziei tmpaxzxjjyw_mondo_relaxed.owl Ramichloridium mackenziei GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5587 biolink:NamedThing Rhinocladiella tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0043217 biolink:NamedThing myelin maintenance The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007009 biolink:NamedThing plasma membrane organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl plasma membrane organisation|plasma membrane organization and biogenesis owl:Class MONDO:0007132 biolink:NamedThing anonychia-ectrodactyly tmpaxzxjjyw_mondo_relaxed.owl anonychia-ectrodactyly|anonychia ectrodactyly OMIM:106900|UMLS:C1862843|GARD:0000708|MESH:C566277 https://rarediseases.info.nih.gov/diseases/708/anonychia-ectrodactyly owl:Class HGNC:1301 biolink:NamedThing CFAP298 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019980 biolink:NamedThing renal hypoplasia, bilateral Bilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which both kidneys are small and have a deficit in the number of nephrons present. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:97362|ICD10:Q60.4|SCTID:268232000 owl:Class MONDO:0006184 biolink:NamedThing ductal breast carcinoma in situ and lobular carcinoma in situ The co-existence of ductal and lobular carcinoma in situ in the breast, without evidence of stromal invasion. tmpaxzxjjyw_mondo_relaxed.owl non-infiltrating ductal and non-infiltrating lobular breast carcinoma|non-invasive ductal carcinoma with non-invasive lobular carcinoma of the breast|DCIS and LCIS of breast|non-infiltrating ductal with non-infiltrating lobular carcinoma of the breast|non-invasive ductal breast carcinoma with non-invasive lobular breast carcinoma|non-invasive ductal carcinoma with non-invasive lobular carcinoma of breast|ductal carcinoma in situ with lobular carcinoma in situ of the breast|intraductal and lobular breast carcinoma in situ|non-invasive ductal with non-invasive lobular breast carcinoma|DCIS and LCIS of the breast|non-infiltrating ductal with non-infiltrating lobular carcinoma of breast|ductal and lobular carcinoma in situ of the breast|ductal and lobular carcinoma in situ of breast|ductal carcinoma in situ with lobular carcinoma in situ of breast|ductal and lobular breast carcinoma in situ|non-invasive ductal and non-invasive lobular breast carcinoma|intraductal and lobular carcinoma in situ of the breast|non-invasive ductal and non-invasive lobular carcinoma|intraductal carcinoma and lobular carcinoma in situ|intraductal and lobular carcinoma in situ of breast ICDO:8522/2|UMLS:C0334383|EFO:1000221|NCIT:C4195 owl:Class MONDO:0017958 biolink:NamedThing magic syndrome tmpaxzxjjyw_mondo_relaxed.owl mouth and genital ulcers with inflamed cartilage GARD:0013371|Orphanet:324972|UMLS:CN204105 owl:Class MONDO:0006225 biolink:NamedThing gastric mantle cell lymphoma A mantle cell lymphoma that affects the stomach. It may arise as a solitary mass or it may be a component of multifocal lymphomatous polyposis of the gastrointestinal tract. It usually has an aggressive clinical course. tmpaxzxjjyw_mondo_relaxed.owl gastric mantle cell lymphoma|stomach mantle cell lymphoma|mantle cell lymphoma of the stomach|mantle cell lymphoma of stomach NCIT:C27440|UMLS:C1333780|EFO:1000272 owl:Class MONDO:0018876 biolink:NamedThing mantle cell lymphoma Mantle cell lymphoma is a rare form of malignant non-Hodgkin lymphoma affecting B lymphocytes in the lymph nodes in a region called the ``mantle zone''. tmpaxzxjjyw_mondo_relaxed.owl MCL|LCM|mantle cell lymphoma|mantle zone lymphoma|classical mantle cell lymphoma|lymphoma, mantle cell Orphanet:52416|DOID:0050746|ICDO:9673/3|MedDRA:10061275|ICD10:C83.1|NCIT:C4337|EFO:1001469|GARD:0006969|MESH:D020522|SCTID:443487006|ICD9:200.40|ONCOTREE:MCL owl:Class MONDO:0017793 biolink:NamedThing marfanoid habitus-inguinal hernia-advanced bone age syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:314041|UMLS:CN203743 owl:Class NCBITaxon:4859 biolink:NamedThing Basidiobolus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005533 biolink:NamedThing distal colitis Particular variety of ulcerative colitis where only the left half of the colon is inflamed. tmpaxzxjjyw_mondo_relaxed.owl left colon inflammation|inflammation of left colon SCTID:373639002|EFO:0005623|ICD9:558.9|UMLS:C0860168 owl:Class MONDO:0022693 biolink:NamedThing cerebral calcification cerebellar hypoplasia tmpaxzxjjyw_mondo_relaxed.owl GARD:0001201 https://rarediseases.info.nih.gov/diseases/1201/cerebral-calcification-cerebellar-hypoplasia owl:Class HGNC:9964 biolink:NamedThing DPF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002321 biolink:NamedThing sensory peripheral neuropathy Inflammation or degeneration of the sensory nerves. tmpaxzxjjyw_mondo_relaxed.owl peripheral sensory neuropathy|sensory nerve peripheral neuropathy|sensory neuropathy|peripheral neuropathy of sensory nerve UMLS:C0151313|DOID:2491|SCTID:95662005|MESH:D009477|SCTID:11442006|ICD9:356.2|NCIT:C3501|ICD9:356.9 owl:Class MONDO:0000338 biolink:NamedThing variola major infectious disease tmpaxzxjjyw_mondo_relaxed.owl variola major UMLS:C1812609|SCTID:47452006|DOID:0050508|ICD9:050.0 owl:Class MONDO:0008983 biolink:NamedThing chromosomal instability with tissue-specific radiosensitivity tmpaxzxjjyw_mondo_relaxed.owl chromosomal instability with tissue-specific radiosensitivity OMIM:215510|MESH:C565848 owl:Class MONDO:0005675 biolink:NamedThing border disease Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus. tmpaxzxjjyw_mondo_relaxed.owl EFO:0007177|UMLS:C0006008|MESH:D001882 owl:Class HGNC:20330 biolink:NamedThing POMP tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011277 biolink:NamedThing Abnormality of the urinary system physiology tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023437 peter 2011-12-30T02:51:16Z human_phenotype owl:Class MONDO:0004155 biolink:NamedThing adult central nervous system embryonal carcinoma A embryonal carcinoma of the central nervous system that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl embryonal carcinoma of adult CNS|embryonal carcinoma of the adult CNS|embryonal carcinoma of adult central nervous system|adult central nervous system embryonal carcinoma|adult CNS embryonal carcinoma|Central nervous system embryonal carcinoma|embryonal carcinoma of the central nervous system of adults|embryonal carcinoma of the adult central nervous system|adult embryonal carcinoma of the central nervous system NCIT:C5790|DOID:7233|UMLS:C1370503 owl:Class PATO:0001795 biolink:NamedThing increased coiling A coiling which is relatively high. tmpaxzxjjyw_mondo_relaxed.owl high coiling owl:Class UBERON:0022356 biolink:NamedThing outer layer of endometrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0018215 biolink:NamedThing protein phosphopantetheinylation The modification of a protein amino acid by phosphopantetheinylation. tmpaxzxjjyw_mondo_relaxed.owl protein amino acid phosphopantetheinylation owl:Class MONDO:0020818 biolink:NamedThing secondary dentine Dentin formed by normal pulp after completion of root end formation. tmpaxzxjjyw_mondo_relaxed.owl Secondary dentine|Dentins, Secondary|Tertiary dentine|reparative dentine|DENTIN SECOND|irregular dentine|Secondary Dentin|sclerotic dentine|Dentin, Secondary|SECOND DENTIN|Reparative dentine|irregular dentin|tertiary dentine|secondary dentine|secondary dentin|Secondary dentin|Irregular dentine|Secondary Dentins|Irregular dentin|Sclerotic dentine SCTID:59818004|MESH:D003809|UMLS:C0011434 owl:Class CL:1000332 biolink:NamedThing serous cell of epithelium of terminal bronchiole A serous secreting cell that is part of the epithelium of terminal bronchiole. tmpaxzxjjyw_mondo_relaxed.owl FMA:263082 cell owl:Class MONDO:0005566 biolink:NamedThing neonatal abstinence syndrome A constellation of neurobehavioral features observed in a neonate following antenatal exposure to drugs including opioids, benzodiazepines, and selective serotonin reuptake inhibitors. tmpaxzxjjyw_mondo_relaxed.owl neonatal narcotic withdrawal syndrome|neonatal withdrawal|NAS|drug withdrawal syndrome in newborn UMLS:C0027609|MESH:D009357|NCIT:C87101|ICD9:760.8|EFO:0005799|SCTID:414819007|ICD10:P96.1|ICD9:779.5|DOID:9828 owl:Class MONDO:0030989 biolink:NamedThing spermatogenic failure 53 tmpaxzxjjyw_mondo_relaxed.owl SPGF53|spermatogenic failure 53 OMIM:619258 owl:Class MONDO:0020775 biolink:NamedThing congenital disorder of glycosylation with defective fucosylation 1 tmpaxzxjjyw_mondo_relaxed.owl Cdgf|CDGF1|CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1 OMIM:618005 owl:Class MONDO:0045014 biolink:NamedThing tetrahydrobiopterin metabolic process disease A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process. tmpaxzxjjyw_mondo_relaxed.owl disorder of tetrahydrobiopterin metabolism|disorder of tetrahydrobiopterin metabolic process|tetrahydrobiopterin metabolism disease SCTID:237913008|UMLS:C0342676 owl:Class HGNC:8931 biolink:NamedThing PHKG2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006828 biolink:NamedThing nasal cavity and paranasal sinus lethal midline granuloma An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma. tmpaxzxjjyw_mondo_relaxed.owl nasal cavity and paranasal sinus lethal Midline granuloma|midfacial Necrotising lesion|lethal midline granuloma|malignant granuloma of face|Midline lethal granuloma of nasal cavity and paranasal sinus|Midline lethal granuloma of the nasal cavity and paranasal sinus NCIT:C8196|EFO:1001013|MESH:D006103|MedDRA:10024255|ICD10:M31.2|DOID:9072|ICD9:446.3 Editor note: TODO granuloma DP owl:Class HGNC:15807 biolink:NamedThing ZNF335 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024632 biolink:NamedThing defective phagocytic cell opsonization tmpaxzxjjyw_mondo_relaxed.owl defective phagocytic cell opsonization SCTID:234578009|UMLS:C0398733 owl:Class MONDO:0017006 biolink:NamedThing X and Y chromosomal anomaly tmpaxzxjjyw_mondo_relaxed.owl 2022-04-01 Orphanet:263749|ICD10:Q98.8 Reason: grouping class. Term to consider: none owl:Class MONDO:0015631 biolink:NamedThing von Willebrand disease type 2N Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII). tmpaxzxjjyw_mondo_relaxed.owl von Willebrand disease Normandy variant|von Willebrand disease, type 2N SCTID:359732009|NCIT:C131689|OMIM:613554|ICD10:D68.0|Orphanet:166093|UMLS:C1282975 owl:Class MONDO:0006313 biolink:NamedThing nabothian cyst A benign, mucus-filled cervical cyst that occurs when mucus-secreting columnar epithelial cells are covered with squamous epithelium. tmpaxzxjjyw_mondo_relaxed.owl SCTID:24565001|EFO:1000390|Wikipedia:Nabothian_cyst|NCIT:C34835|UMLS:C0027269 Editor note: check this owl:Class MONDO:0007577 biolink:NamedThing esophageal ring, lower tmpaxzxjjyw_mondo_relaxed.owl esophageal ring, lower SCTID:235623002|MESH:C562765|OMIM:133240|ICD9:750.3|UMLS:C0341137 owl:Class MONDO:0043254 biolink:NamedThing papular urticaria tmpaxzxjjyw_mondo_relaxed.owl urticaria papulosa of hebra|bullous papular urticaria - type|prurigo simplex|strophulus|lichen urticatus|papular urticaria MESH:C537169|GARD:0007322|SCTID:55608001 owl:Class GO:0016812 biolink:NamedThing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amide. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000022 biolink:NamedThing nocturnal enuresis Urination during sleep. tmpaxzxjjyw_mondo_relaxed.owl bedwetting|enuresis, nocturnal|sleep enuresis NCIT:C118172|MESH:D053206 See genetic heterogeneity of OMIM 600631. owl:Class UBERON:0008432 biolink:NamedThing thoracic vertebral foramen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010461 biolink:NamedThing syndromic X-linked intellectual disability Nascimento type X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, syndromic, Nascimento type|intellectual disability, X-linked syndromic, Nascimento-type|mental retardation, X-linked syndromic, Nascimento-type|syndromic X-linked intellectual disability Nascimento type|X-linked intellectual disability, Nascimento type|X-linked intellectual disability-nail dystrophy-seizures syndrome|MRXSN|intellectual disability, X-linked, syndromic, Nascimento type|mental retardation, X-linked, syndromic 30|intellectual disability, X-linked, syndromic 30 OMIM:300860|ICD10:Q87.8|DOID:0060820|UMLS:C3275464|Orphanet:163956 owl:Class HGNC:3386 biolink:NamedThing EPHA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017607 biolink:NamedThing caudal regression sequence Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine. tmpaxzxjjyw_mondo_relaxed.owl caudal dysplasia|sacral agenesis syndrome|sacral regression syndrome MedDRA:10068896|Orphanet:3027|GARD:0006007|UMLS:C1838568|ICD10:Q76.0|NCIT:C124505|UMLS:C1867774|MedDRA:10054842|MedDRA:10059387|OMIM:600145 owl:Class MONDO:0015638 biolink:NamedThing benign partial epilepsy of infancy with complex partial seizures Benign partial epilepsy of infancy with complex partial seizures is a rare infantile epilepsy syndrome characterized by complex partial seizures presenting with motion arrest, decreased responsiveness, staring, automatisms and mild clonic movements, with or without apneas, normal interictal EEG and focal, mostly temporal discharges in ictal EEG. Most often, seizures occur in clusters and have a good response to treatment. Psychomotor development is normal. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:166299|UMLS:CN226717|ICD10:G40.2 owl:Class MONDO:0000866 biolink:NamedThing myoglobinuria tmpaxzxjjyw_mondo_relaxed.owl myoglobinurias OMIM:550500|DOID:0080108|HP:0002913|OMIM:160010|NCIT:C114705|MESH:D009212|OMIM:268200|ICD10:R82.1 TODO: cede to HPO owl:Class MONDO:0008601 biolink:NamedThing triglyceride storage disease, type 1 tmpaxzxjjyw_mondo_relaxed.owl triglyceride storage disease, type I OMIM:190420|MESH:C566031|UMLS:C1860821 owl:Class MONDO:0018141 biolink:NamedThing pyruvate carboxylase deficiency, infantile form Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course. tmpaxzxjjyw_mondo_relaxed.owl pyruvate carboxylase deficiency, infantile type|pyruvate carboxylase deficiency type A OMIM:266150|Orphanet:353308|ICD10:E74.4|UMLS:CN204538 owl:Class MONDO:0011212 biolink:NamedThing sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth tmpaxzxjjyw_mondo_relaxed.owl sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth UMLS:C1865645|OMIM:602340|MESH:C566560 owl:Class MONDO:0009355 biolink:NamedThing Hooft disease tmpaxzxjjyw_mondo_relaxed.owl Hooft disease|delayed physical development, erythematosquamous eruption, opaque leukonychia, intellectual disability, and low serum lipids UMLS:C0268479|GARD:0009702|MESH:C535329|OMIM:236300 https://rarediseases.info.nih.gov/diseases/9702/hooft-disease owl:Class GO:0002253 biolink:NamedThing activation of immune response Any process that initiates an immune response. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0027026 biolink:NamedThing Buschke Lowenstein tumor A verrucous carcinoma of the skin or mucosa that occurs in the anogenital region. tmpaxzxjjyw_mondo_relaxed.owl giant condyloma of Buschke and Lowenstein|Giant condyloma Acuminatums|Buschke Lowenstein tumor|condyloma Acuminatum, Giant|GCBL|condyloma Acuminatums, Giant|giant condyloma acuminatum involving the prepuce and glans penis|tumor, Buschke Lowenstein|tumor, Buschke-Lowenstein|Buschke-Lowenstein tumor|Giant condyloma Acuminatum|Lowenstein tumor, Buschke|anogenital type verrucous carcinoma|Giant condyloma of Buschke and Lowenstein SCTID:402910001|MESH:D062688|GARD:0009663|NCIT:C6371|UMLS:C0276264 owl:Class MONDO:0004591 biolink:NamedThing impetigo herpetiformis An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000715|ICD9:694.3|ICD10:L40.1|UMLS:C1314968|DOID:8503|SCTID:65539006 owl:Class MONDO:0004189 biolink:NamedThing esophageal tuberculosis A tuberculosis that involves the esophagus. tmpaxzxjjyw_mondo_relaxed.owl esophagus tuberculosis|tuberculosis of esophagus ICD9:017.83|UMLS:C0152902|ICD9:017.81|SCTID:15284007|DOID:7332|ICD9:017.80|ICD9:017.8 owl:Class UBERON:0005288 biolink:NamedThing tela choroidea of third ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006900 biolink:NamedThing vesicle budding from membrane The evagination of a membrane, resulting in formation of a vesicle. tmpaxzxjjyw_mondo_relaxed.owl single-organism membrane budding|vesicle budding|single organism membrane budding|vesicle biosynthesis|membrane evagination|vesicle formation|nonselective vesicle assembly owl:Class MONDO:0012769 biolink:NamedThing prostate cancer, hereditary, 14 tmpaxzxjjyw_mondo_relaxed.owl HPC14|prostate cancer, hereditary, 14 Orphanet:1331|MESH:C567448|UMLS:C2677772|OMIM:611958 owl:Class MONDO:0017389 biolink:NamedThing tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria Tetrahydrobiopterin-responsive hyperphenylalaninemia/ phenylketonuria (BH4-responsive hyperphenylalaninemia/ phenylketonuria) is a form of phenylketonuria (PKU), an inborn error of amino acid metabolism, characterized by mild to moderate symptoms of PKU including impaired cognitive function, seizures, and behavioral and developmental disorders, and a marked reduction and normalization of elevated phenylalanine concentrations after oral loading with tetrahydrobiopterin (BH4; sapropterin dihydrochloride), an essential cofactor of phenylalanine hydroxylase. tmpaxzxjjyw_mondo_relaxed.owl tetrahydrobiopterin-responsive HPA/PKU|BH4-responsive hyperphenylalaninemia/phenylketonuria|BH4-responsive HPA/PKU ICD10:E70.1|Orphanet:293284 owl:Class MONDO:0007174 biolink:NamedThing Lown-Ganong-Levine syndrome Lown-Ganong-Levine syndrome is an extremely rare conduction disorder characterized by a short PR interval (less than or equal to 120 ms) with normal QRS complex on electrocardiogram associated with the occurrence of episodes of atrial tachyarrythmias (e.g. atrial fibrillation, atrial tachycardia). tmpaxzxjjyw_mondo_relaxed.owl LGL syndrome|syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias|atrial tachyarrhythmia with short PR interval|Lown-Ganong-Levine syndrome OMIM:108950|ICD10:I45.6|MedDRA:10024984|SCTID:55475008|ICD9:426.81|Orphanet:844|UMLS:C1862387|DOID:13087|MESH:D008151|UMLS:C0024054 owl:Class GO:0017157 biolink:NamedThing regulation of exocytosis Any process that modulates the frequency, rate or extent of exocytosis. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013693 biolink:NamedThing inflammatory skin and bowel disease, neonatal, 1 Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene. tmpaxzxjjyw_mondo_relaxed.owl ADAM17 neonatal inflammatory skin and bowel disease|neonatal inflammatory skin and bowel disease caused by mutation in ADAM17|inflammatory skin and bowel disease, neonatal, 1|inflammatory skin and bowel disease, neonatal, type 1|NISBD1 UMLS:C3280501|Orphanet:294023|OMIM:614328 owl:Class MONDO:0010603 biolink:NamedThing hemophilia A with vascular abnormality tmpaxzxjjyw_mondo_relaxed.owl hemophilia A with vascular abnormality OMIM:306800|UMLS:C1844137|MESH:C564415 owl:Class SO:1000036 biolink:NamedThing inversion A continuous nucleotide sequence is inverted in the same position. tmpaxzxjjyw_mondo_relaxed.owl inversion owl:Class OGMS:0000061 biolink:NamedThing pathological bodily process A bodily process that is clinically abnormal. tmpaxzxjjyw_mondo_relaxed.owl creation date: 2009-06-23T11:54:29Z http://ontology.buffalo.edu/medo/Disease_and_Diagnosis.pdf Albert Goldfain owl:Class MONDO:0012636 biolink:NamedThing restless legs syndrome, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl RLS6|restless legs syndrome, susceptibility to, 6|periodic limb movements in sleep GARD:0010273|OMIM:611185 owl:Class MONDO:0018624 biolink:NamedThing spontaneous intracranial hypotension tmpaxzxjjyw_mondo_relaxed.owl spontaneous cerebrospinal fluid leak UMLS:CN237665|Orphanet:443180|ICD10:G96.0 owl:Class MONDO:0014490 biolink:NamedThing ketoacidosis due to monocarboxylate transporter-1 deficiency tmpaxzxjjyw_mondo_relaxed.owl MCT1D|monocarboxylate transporter 1 deficiency Orphanet:438075|OMIM:616095|ICD10:E88.8|UMLS:C4015186 owl:Class MONDO:0018579 biolink:NamedThing disorder of ketone body transport tmpaxzxjjyw_mondo_relaxed.owl disorder of ketone body transport|disorder of keton body transport Orphanet:438072|UMLS:CN237600 owl:Class MONDO:0012185 biolink:NamedThing spondylometaphyseal dysplasia, A4 type tmpaxzxjjyw_mondo_relaxed.owl spondylometaphyseal dysplasia type A4|spondylometaphyseal dysplasia, type A4|spondylometaphyseal dysplasia A4 type OMIM:609052|GARD:0000458|Orphanet:168555|MESH:C563803|ICD10:Q77.8|UMLS:C1836862 https://rarediseases.info.nih.gov/diseases/458/spondylometaphyseal-dysplasia-type-a4 owl:Class MONDO:0007054 biolink:NamedThing acromial dimples tmpaxzxjjyw_mondo_relaxed.owl acromial dimples|supraspinous fossae, congenital OMIM:102350|UMLS:C1863321 owl:Class MONDO:0015171 biolink:NamedThing congenital enterocyte heparan sulfate deficiency Congenital enterocyte heparan sulphate deficiency is characterised by massive enteric protein loss, secretory diarrhoea, and intolerance to enteral feeds during the first few weeks of life. tmpaxzxjjyw_mondo_relaxed.owl SCTID:725591002|ICD10:P78.3|Orphanet:103910 owl:Class MONDO:0016772 biolink:NamedThing annular lichen planus Annular lichen planus (LP) is a rare variant of cutaneous lichen planus characterized by the development of annular lesions. tmpaxzxjjyw_mondo_relaxed.owl annular LP GARD:0012674|ICD10:L43.8|UMLS:C0406363|SCTID:201000006|Orphanet:254424 https://rarediseases.info.nih.gov/diseases/12674/annular-lichen-planus owl:Class MONDO:0008951 biolink:NamedThing cerebrocortical degeneration of infancy tmpaxzxjjyw_mondo_relaxed.owl cerebrocortical degeneration of infancy OMIM:213950|MESH:C565863|UMLS:C1859257 owl:Class HP:0031481 biolink:NamedThing Abnormal mitral valve physiology Any functional anomaly of the mitral valve. tmpaxzxjjyw_mondo_relaxed.owl 2017-09-17 22:37:40+00:00 peter human_phenotype owl:Class MONDO:0009154 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 5 Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital nongoitrous hypothyroidism 5|hypothyroidism, congenital, nongoitrous, 5|hypothyroidism, congenital, nongoitrous, type 5|hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5|NKX2-5 hypothyroidism, congenital, nongoitrous|congenital nongoitrous hypothryoidism 5|CHNG5 DOID:0070125|MESH:C567123|OMIM:225250|Orphanet:95720|Orphanet:95713|UMLS:C2673630|ICD10:E03.1|Orphanet:90673|Orphanet:95712 owl:Class MONDO:0007843 biolink:NamedThing Kabuki syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl Kabuki make-Up syndrome|Kabuki syndrome type 1|KABUKI syndrome 1|Niikawa-Kuroki syndrome|Kabuki syndrome 1|KABUK1|Kabuki syndrome UMLS:CN030661|UMLS:C0796004|OMIM:147920|Orphanet:2322 owl:Class MONDO:0008976 biolink:NamedThing chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome tmpaxzxjjyw_mondo_relaxed.owl chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome UMLS:C1859104|MESH:C565852|OMIM:215250 owl:Class MONDO:0002063 biolink:NamedThing breast papillomatosis A benign breast neoplasm characterized by the proliferation of multiple papillomas. tmpaxzxjjyw_mondo_relaxed.owl breast papillomatosis|papillomatosis of breast|papillomatosis of the breast NCIT:C6977|DOID:1634|UMLS:C1332636 owl:Class CL:1000703 biolink:NamedThing kidney pelvis urothelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001114 cell owl:Class MONDO:0003806 biolink:NamedThing thyroid hyalinizing trabecular adenoma A rare, circumscribed or encapsulated tumor arising from the follicular cells of the thyroid gland. It is characterized by a trabecular growth pattern and hyalinized stroma formation. The vast majority of cases have a benign clinical course. tmpaxzxjjyw_mondo_relaxed.owl paraganglioma-like adenoma|hyalinizing trabecular adenoma of the thyroid|PLAT|thyroid hyalinizing trabecular adenoma|HTAT|thyroid gland hyalinizing trabecular tumor|hyalinizing trabecular tumor|hyalinizing trabecular adenoma of thyroid EFO:1000588|NCIT:C6846|UMLS:C1336751|DOID:6203|ICDO:8336/0|ONCOTREE:HTAT owl:Class NCBITaxon:11709 biolink:NamedThing Human immunodeficiency virus 2 tmpaxzxjjyw_mondo_relaxed.owl AIDS virus|Human immunodeficiency virus type 2|HIV type 2|human immunodeficiency virus type 2 HIV-2|HIV-2|Human immunodeficiency virus-2|human immunodeficiency virus type 2, HIV-2|HIV|LAV-2|HIV2 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013615 biolink:NamedThing craniosynostosis and dental anomalies tmpaxzxjjyw_mondo_relaxed.owl CRSDA|craniosynostosis and dental anomalies|craniosynostosis-dental anomalies|Kreiborg-Pakistani syndrome ICD10:Q87.0|OMIM:614188|UMLS:C3280073|Orphanet:284149 owl:Class MONDO:0005967 biolink:NamedThing splenic tuberculosis Infection of the spleen with species of mycobacterium. tmpaxzxjjyw_mondo_relaxed.owl MESH:D014400|ICD9:017.7|ICD10:A18.85|EFO:0007492|DOID:9305|SCTID:28399005|UMLS:C0041331 owl:Class MONDO:0016024 biolink:NamedThing shoulder and thorax deformity-congenital heart disease syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:1940|ICD10:Q87.8 owl:Class MONDO:0012942 biolink:NamedThing lung cancer susceptibility 3 tmpaxzxjjyw_mondo_relaxed.owl lung cancer susceptibility 3|LNCR3|adenocarcinoma of lung, susceptibility to UMLS:C2675497|OMIM:612571 owl:Class MONDO:0020695 biolink:NamedThing hypotonic cerebral palsy A type of cerebral palsy characterized by decreased muscle tone. tmpaxzxjjyw_mondo_relaxed.owl hypotonic cerebral palsy NCIT:C116906|SCTID:192958009 owl:Class MONDO:0011522 biolink:NamedThing hereditary spastic paraplegia 14 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 3q27-q28. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia 14, autosomal recessive|autosomal recessive spastic paraplegia type 14|hereditary spastic paraplegia type 14|SPG14|spastic paraplegia 14|autosomal recessive spastic paraplegia 14 DOID:0110767|Orphanet:100995|GARD:0009589|OMIM:605229|UMLS:C1854568|MESH:C537486|ICD10:G11.4 owl:Class UBERON:0004231 biolink:NamedThing anal region smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000291 biolink:NamedThing granulomatous amebic encephalitis Granulomatous amebic encephalitis is a life-threatening infection of the brain caused by the free-living amoebae Acanthamoeba spp., Balamuthia mandrillaris and Sappinia pedata. Acanthamoeba species, are commonly found in lakes, swimming pools, tap water, and heating and air conditioning units. The disease affects immunocompromised peple and is very serious. Symptoms include mental status changes, loss of coordination, fever, muscular weakness or partial paralysis affecting one side of the body, double vision, sensitivity to light and other neurologic problems. The diagnosis is difficult and is often made at advanced stages. Tests useful in the diagnosis include brain scans, biopsies, or spinal taps and in disseminated disease, biopsy of the involved sites and testing by the laboratory experts. Early diagnosis is important for the prognosis. No single drug is effective; hence multiple antibiotics are needed for successful treatment. A combination of surgical and medical interventions involving multiple specialty experts is required to prevent death and morbidity in survivors. tmpaxzxjjyw_mondo_relaxed.owl Acanthamoeba encephalitis|Acanthamoeba granulomatous encephalitis|granulomatous amoebic encephalitis|granulomatous amebic encephalitis due to Acanthamoeba GARD:0012651|DOID:0050246|ICD9:323.2|UMLS:C0338428|SCTID:230187000 https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis owl:Class MONDO:0015044 biolink:NamedThing mu-heavy chain disease Mu-heavy chain disease (mu-HCD) is a type of HCD characterized by the production of incomplete monoclonal mu-heavy chains without associated light chains. The clinical presentation resembles that of patients with chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). tmpaxzxjjyw_mondo_relaxed.owl mu heavy chain disease|mu chain disease|mu-HCD SCTID:61493004|NCIT:C3892|Orphanet:100024|ICD9:273.2|ICD10:C88.2|DOID:0060128 owl:Class MONDO:0033201 biolink:NamedThing hearing loss, autosomal recessive 57 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 57|DFNB57 DOID:0111635|OMIM:618003|UMLS:CN248511 owl:Class GO:0098840 biolink:NamedThing protein transport along microtubule The directed movement of a protein along a microtubule, mediated by motor proteins. tmpaxzxjjyw_mondo_relaxed.owl microtubule-based protein transport owl:Class GO:0099118 biolink:NamedThing microtubule-based protein transport A microtubule-based process that results in the transport of proteins. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032592 biolink:NamedThing cardiomyopathy, dilated, 2c tmpaxzxjjyw_mondo_relaxed.owl CARDIOMYOPATHY, DILATED, 2C|CMD2C OMIM:618189 owl:Class GO:1990613 biolink:NamedThing mitochondrial membrane fusion The joining of two lipid bilayers that surround the mitochondria. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0090482 biolink:NamedThing vitamin transmembrane transporter activity Enables the transfer of a vitamin from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl vitamin or cofactor transporter activity|vitamin transporter activity owl:Class NCBITaxon:46683 biolink:NamedThing Ascaridiidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100086 biolink:NamedThing perinatal disease A condition affecting an unborn or newly born individual, where the perinatal period is defined in humans as commencing at 22 completed weeks (154 days) of gestation and ending seven completed days after birth. Other, broader definitions of perinatal period cover five months before birth to one month after birth. tmpaxzxjjyw_mondo_relaxed.owl perinatal condition|perinatal disorder http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011741 biolink:NamedThing hirschsprung disease, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl HSCR6|Hirschsprung disease, susceptibility to, 6 OMIM:606874|Orphanet:388 owl:Class NCBITaxon:51291 biolink:NamedThing Chlamydiales tmpaxzxjjyw_mondo_relaxed.owl chlamydias PMID:26179278|PMID:25634949|PMID:10319462|PMID:16079343|PMID:11211265|GC_ID:11|PMID:10826799 ncbi_taxonomy owl:Class MONDO:0012477 biolink:NamedThing retinitis pigmentosa 33 Any retinitis pigmentosa in which the cause of the disease is a mutation in the SNRNP200 gene. tmpaxzxjjyw_mondo_relaxed.owl SNRNP200 retinitis pigmentosa|retinitis pigmentosa caused by mutation in SNRNP200|RP 33|RP33|retinitis pigmentosa 33|retinitis pigmentosa type 33 ICD10:H35.5|GARD:0010400|DOID:0110366|UMLS:C1835895|OMIM:610359|MESH:C563676 https://rarediseases.info.nih.gov/diseases/10400/retinitis-pigmentosa-33 owl:Class MONDO:0008990 biolink:NamedThing cleft larynx, posterior tmpaxzxjjyw_mondo_relaxed.owl Novak syndrome|stridor, congenital|laryngotracheoesophageal cleft pulmonary hypoplasia|cleft larynx, posterior Orphanet:2004|GARD:0004015|Orphanet:2005|Orphanet:93940|OMIM:215800 owl:Class NCBITaxon:642 biolink:NamedThing Aeromonas tmpaxzxjjyw_mondo_relaxed.owl PMID:17012583|GC_ID:11|PMID:7520733|PMID:12067377|PMID:12807216|PMID:1380289|PMID:16560691|PMID:17158971|PMID:8934910|PMID:11155981|PMID:8347521|PMID:1380286|PMID:19567585|PMID:15388703 ncbi_taxonomy owl:Class MONDO:0025303 biolink:NamedThing anaplasmosis An disease or disorder caused by infection with Anaplasma. tmpaxzxjjyw_mondo_relaxed.owl Anaplasma caused disease or disorder|Anaplasma infectious disease|Anaplasma disease or disorder SCTID:13906002 owl:Class MONDO:0002308 biolink:NamedThing giant papillary conjunctivitis Conjunctivitis that is associated with contact lens wear, and which is characterized by giant papillae in the tarsal conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl GPC UMLS:C0009769|DOID:2457|GARD:0008445|SCTID:231857004|ICD9:372.39|NCIT:C34507 https://rarediseases.info.nih.gov/diseases/8445/giant-papillary-conjunctivitis owl:Class GO:0050818 biolink:NamedThing regulation of coagulation Any process that modulates the frequency, rate or extent of coagulation, the process in which a fluid solution, or part of it, changes into a solid or semisolid mass. tmpaxzxjjyw_mondo_relaxed.owl regulation of clotting owl:Class MONDO:0001055 biolink:NamedThing conjunctival pterygium tmpaxzxjjyw_mondo_relaxed.owl web eye DOID:10526 owl:Class MONDO:0005085 biolink:NamedThing pterygium A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder. tmpaxzxjjyw_mondo_relaxed.owl pterygium of conjunctiva and cornea|surfer's eye EFO:0000678|UMLS:C0033999|ICD9:372.4|DOID:0002116|ICD10:H11.00|ICD10:H11.009|ICD9:372.40|NCIT:C133744|ICD10:H11.0|SCTID:77489003|MESH:D011625 owl:Class HGNC:12874 biolink:NamedThing ZIC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010074 biolink:NamedThing brachyolmia type 1, toledo type tmpaxzxjjyw_mondo_relaxed.owl BCYM1B|brachyolmia type 1, Toledo type|spondyloepiphyseal dysplasia tarda, Toledo type|Sed, chondroitin sulfate type|PAPS-chondroitin sulfate sulfotransferase deficiency UMLS:C1849048|MESH:C535787|OMIM:271630|Orphanet:93303 owl:Class HGNC:9312 biolink:NamedThing PPP2R5D tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017549 biolink:NamedThing humero-radio-ulnar synostosis, bilateral tmpaxzxjjyw_mondo_relaxed.owl humero-radio-ulnar fusion, bilateral ICD10:Q74.0|Orphanet:295207 owl:Class MONDO:0003721 biolink:NamedThing kidney osteogenic sarcoma An osteosarcoma arising from the kidney. tmpaxzxjjyw_mondo_relaxed.owl osteosarcoma of kidney|kidney osteosarcoma (disease)|renal osteosarcoma|renal extraskeletal osteosarcoma|kidney osteosarcoma|osteogenic sarcoma of the kidney|osteosarcoma of the kidney|kidney extraskeletal osteosarcoma|kidney osteogenic sarcoma|renal osteogenic sarcoma|osteogenic sarcoma of kidney UMLS:C1335747|DOID:5983|NCIT:C6181 owl:Class MONDO:0008661 biolink:NamedThing vitiligo Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes. tmpaxzxjjyw_mondo_relaxed.owl vitiligo-associated multiple autoimmune disease susceptibility 6|VAMAS6 Orphanet:247871|DOID:12306|MESH:D014820|OMIM:193200|ICD9:709.01|ICD10:L80|EFO:0004208|NCIT:C26915|UMLS:C0042900 owl:Class MONDO:0016440 biolink:NamedThing elastofibroma dorsi A benign, slow-growing tumor arising from the soft tissues usually in the mid-thoracic region of the elderly. It is characterized by the presence of paucicellular collagenous tissue, adipocytes and a predominance of large coarse elastic fibers arranged in globules. tmpaxzxjjyw_mondo_relaxed.owl Elastofibroma Orphanet:228243|ICDO:8820/0|UMLS:CN226932|UMLS:C0334460|NCIT:C4245 owl:Class MONDO:0032741 biolink:NamedThing neurodevelopmental disorder with impaired speech and hyperkinetic movements tmpaxzxjjyw_mondo_relaxed.owl NEDISHM|NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS OMIM:618425 owl:Class UBERON:0018260 biolink:NamedThing layer of muscle tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008258 biolink:NamedThing platelet signal processing defect tmpaxzxjjyw_mondo_relaxed.owl platelet signal processing defect UMLS:C1868199|MESH:C566796|OMIM:173590 owl:Class MONDO:0100288 biolink:NamedThing enhanced S-cone syndrome An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. tmpaxzxjjyw_mondo_relaxed.owl enhanced S-cone syndrome|ESCS|retinoschisis with early nyctalopia MESH:C564835|OMIM:268100|DOID:0090059|Orphanet:53540|UMLS:C1849394|ICD10:H35.5 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014470 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 65 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 65|DFNA65|autosomal dominant nonsyndromic deafness type 65|TBC1D24 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24|autosomal dominant deafness 65|deafness, autosomal dominant 65|deafness, autosomal dominant type 65 OMIM:616044|UMLS:C3892048|ICD10:H90.3|DOID:0110586 owl:Class MONDO:0033365 biolink:NamedThing developmental and epileptic encephalopathy, 56 tmpaxzxjjyw_mondo_relaxed.owl infantile epileptic encephalopathy 56|DEE56|EIEE56|epileptic encephalopathy, early infantile, 56 UMLS:CN477042|DOID:0080282|OMIM:617665 owl:Class MONDO:0017201 biolink:NamedThing Spasmus nutans Spasmus nutans (SN) is a rare eye disease characterized by the clinical triad of asymmetric and pendular nystagmus, head nodding, and torticollis. tmpaxzxjjyw_mondo_relaxed.owl Spasmus nutans|Spasmus nutans (disease) Spasmus nutans (disease) SCTID:400948003|Orphanet:279882|HP:0010533|MedDRA:10059593|ICD10:F98.4|UMLS:C1527306 owl:Class MONDO:0020045 biolink:NamedThing autosomal recessive cerebellar ataxia due to a DNA repair defect tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 ICD10:G11.3|Orphanet:98097|UMLS:CN227741 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: autosomal recessive cerebellar ataxia' MONDO_0015244 owl:Class MONDO:0010302 biolink:NamedThing Ito hypomelanosis Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines. tmpaxzxjjyw_mondo_relaxed.owl hi syndrome|Ito hypomelanosis|IPA|hypomelanosis of Ito|Incontinentia pigmenti, type I, formerly|Incontinentia pigmenti type 1|Incontinentia pigmenti type 1 (formerly)|Ito|Incontinentia pigmenti achromians|pigmentary mosaicism, Ito type|HMI|Incontinentia pigmenti, type I Orphanet:435|OMIM:300337|ICD10:Q87.8|DOID:3156|GARD:0002992 owl:Class NCBITaxon:92088 biolink:NamedThing Trombiculoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016251 biolink:NamedThing salivary gland type cancer of the breast Salivary gland type cancer of the breast describes a group of uncommon neoplasms, usually seen in the salivary glands but occurring in the breast, with a variable clinicopathologic spectrum and divided into those with myoepithelial differentiation and those without. This group includes mammary adenoid cystic carcinoma, adenoid cystic carcinoma, mucoepidermoid carcinoma, acinic cell carcinoma, polymorphous low-grade adenocarcinoma and oncocytic carcinoma. tmpaxzxjjyw_mondo_relaxed.owl salivary gland type carcinoma of the breast ICD10:C50.3|ICD10:C50.0|ICD10:C50.8|ICD10:C50.2|Orphanet:213557|ICD10:C50.6|ICD10:C50.5|ICD10:C50.4|SCTID:716593008|GARD:0012774|ICD10:C50.1 Editor note: consider merging with mammary adenoid cystic carcinoma https://rarediseases.info.nih.gov/diseases/12774/salivary-gland-type-cancer-of-the-breast owl:Class MONDO:0014516 biolink:NamedThing microcephaly and chorioretinopathy 2 Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene. tmpaxzxjjyw_mondo_relaxed.owl PLK4 microcephaly and chorioretinopathy|microcephaly and chorioretinopathy type 2|microcephaly and chorioretinopathy caused by mutation in PLK4|MCCRP2|microcephaly and chorioretinopathy, autosomal recessive, 2|microcephaly and chorioretinopathy, autosomal recessive, type 2 OMIM:616171|DOID:0080106|Orphanet:808|UMLS:C4015388 owl:Class GO:0033685 biolink:NamedThing negative regulation of luteinizing hormone secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of luteinizing hormone. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of luteinizing hormone secretion|downregulation of luteinizing hormone secretion|down regulation of luteinizing hormone secretion|inhibition of luteinizing hormone secretion owl:Class MONDO:0009532 biolink:NamedThing Miller-Dieker lissencephaly syndrome A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip. tmpaxzxjjyw_mondo_relaxed.owl Miller-Dieker syndrome|chromosome 17P13.3 deletion syndrome|telomeric deletion 17p|lissencephaly due to 17p13.3 deletion|monosomy 17p13.3|Miller-Dieker syndrome chromosome region|MDLS|Miller-Dieker lissencephaly syndrome UMLS:C0265219|MedDRA:10068361|Orphanet:531|GARD:0003669|ICD10:Q04.3|DOID:0060469|ICD9:758.33|OMIM:247200|NCIT:C124852|SCTID:253148005 owl:Class MONDO:0005597 biolink:NamedThing cystic renal cell carcinoma Cystic renal cell carcinoma includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination. The clinical features of cystic renal cell carcinoma are similar to those which are solid. The radiographic and pathologic findings of cystic renal cell carcinoma are often more confusing and less specific than the findings of renal cell carcinoma which are predominantly solid. There are four basic pathologic mechanisms resulting in cystic renal cell carcinoma: intrinsic multiloculated growth; intrinsic unilocular growth (cystadenocarcinoma); cystic necrosis; and origin from the epithelial lining of a preexisting simple cyst. There are three basic radiologic patterns of cystic renal cell carcinoma: unilocular cystic mass, multiloculated cystic mass, and discrete mural nodule in a cystic mass. Cystic renal cell carcinoma is often extremely difficult to differentiate from non-neoplastic, benign neoplastic, and other malignant neoplastic masses utilizing radiologic studies alone. This review presents the clinical, pathologic, and radiographic features of cystic renal cell carcinoma and discusses its radiologic differential diagnosis. tmpaxzxjjyw_mondo_relaxed.owl EFO:0006388|PMID:3739121 owl:Class MONDO:0007680 biolink:NamedThing multinodular goiter-cystic kidney-polydactyly syndrome Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. tmpaxzxjjyw_mondo_relaxed.owl multinodular goiter/cystic renal disease/digital anomalies|thyroid-renal-digital anomalies|Daneman-Davy-Mancer syndrome|MNG/CRD/Da|goiter, multinodular, cystic renal disease, and digital anomalies|multinodular goiter - cystic kidney - polydactyly|multinodular goiter, cystic renal disease, and digital anomalies|Daneman Davy Mancer syndrome Orphanet:2091|SCTID:723409007|ICD10:Q87.8|OMIM:138790|MESH:C535986|UMLS:C1841853|GARD:0001671 owl:Class MONDO:0001799 biolink:NamedThing localized anterior staphyloma tmpaxzxjjyw_mondo_relaxed.owl anterior staphyloma, localized DOID:13787|UMLS:C0155362|SCTID:21946002|ICD9:379.14|ICD10:H15.82 owl:Class MONDO:0012360 biolink:NamedThing congenital nongoitrous hypothryoidism 3 A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has material basis in variation in the chromosome region 15q25.3-q26.1. tmpaxzxjjyw_mondo_relaxed.owl congenital nongoitrous hypothyroidism 3|hypothyroidism, congenital, nongoitrous, 3|CHNG3|thyrotropin resistance|resistance to thyrotropin OMIM:609893|DOID:0070127|Orphanet:97927|MESH:C567935|UMLS:C2940785|ICD10:E03.1 owl:Class MONDO:0013075 biolink:NamedThing herpes simplex encephalitis, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl IIAE2|encephalopathy, acute, infection-induced, susceptibility to, 2|herpes simplex encephalitis, susceptibility to, 2|Herpes simplex encephalitis, susceptibility to, type 2|encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 2|encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 2 Orphanet:1930|OMIM:613002 owl:Class UBERON:0012377 biolink:NamedThing muscle layer of jejunum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025263 biolink:NamedThing strongyle infections, equine Infection of horses with parasitic nematodes of the superfamily strongyloidea. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum. tmpaxzxjjyw_mondo_relaxed.owl strongyle infection, equine|infection, equine strongyle|infections, equine strongyle|equine strongyle infections|Strongyloses, equine|equine Strongylosis|Strongylosis, equine|equine Strongyloses|equine strongyle infection MESH:D013319|UMLS:C0038459 owl:Class MONDO:0030902 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 36 tmpaxzxjjyw_mondo_relaxed.owl MC1DN36|mitochondrial complex 1 deficiency, nuclear type 36 OMIM:619170 owl:Class HGNC:30883 biolink:NamedThing TMEM126B tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030811 biolink:NamedThing regulation of nucleotide catabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. tmpaxzxjjyw_mondo_relaxed.owl regulation of nucleotide breakdown|regulation of nucleotide degradation|regulation of nucleotide catabolism owl:Class HGNC:6719 biolink:NamedThing LTC4S tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010765 biolink:NamedThing Palmar hyperkeratosis Abnormal thickening of the skin localized to the palm of the hand. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023710 peter 2010-04-24T03:53:19Z human_phenotype owl:Class MONDO:0011178 biolink:NamedThing infantile convulsions and choreoathetosis Infantile Convulsions and paroxysmal ChoreoAthetosis (ICCA) syndrome is a neurological condition characterized by the occurrence of seizures during the first year of life (Benign familial infantile epilepsy) and choreoathetotic dyskinetic attacks during childhood or adolescence. tmpaxzxjjyw_mondo_relaxed.owl paroxysmal kinesigenic dyskinesia and infantile convulsions|convulsions, infantile, with paroxysmal choreoathetosis, familial|infantile convulsions and paroxysmal choreoathetosis, familial|ICCA|PKD/IC|ICCA syndrome|paroxysmal kinesigenic dyskinesia with infantile convulsions|Icca syndrome|convulsions, familial infantile, with paroxysmal choreoathetosis|infantile convulsions and choreoathetosis SCTID:715534008|OMIM:602066|MESH:C535522|NCIT:C126650|Orphanet:31709|ICD10:G40.4|UMLS:C1865926|GARD:0008553 owl:Class UBERON:0014394 biolink:NamedThing uterine fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005832 biolink:NamedThing lymphangitis Inflammation of the lymphatic vessels. tmpaxzxjjyw_mondo_relaxed.owl lymphatic vessel inflammation|inflammation of lymphatic vessel ICD10:I89.1|EFO:0007351|DOID:9317|ICD9:457.2|SCTID:1415005|NCIT:C34790|UMLS:C0024225|MESH:D008205 owl:Class MONDO:0009681 biolink:NamedThing Ullrich congenital muscular dystrophy 1 tmpaxzxjjyw_mondo_relaxed.owl Ullrich congenital muscular dystrophy type 1|Ullrich congenital muscular dystrophy 1|muscular dystrophy, Scleroatonic|UCMD1|Ullrich Scleroatonic muscular dystrophy|Ullrich disease|Ullrich congenital muscular dystrophy UMLS:CN033863|OMIM:254090 owl:Class MONDO:0007795 biolink:NamedThing mullerian duct anomalies-limb anomalies syndrome Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl Müllerian duct anomalies-limb anomalies syndrome|limb-uterus syndrome|limb uterus syndrome|severe upper limb hypoplasia and Mullerian duct anomalies|hypomelia mullerian duct anomalies|hypomelia with mullerian duct anomalies ICD10:Q87.8|GARD:0002908|Orphanet:2491|UMLS:C1840335|OMIM:146160|MESH:C537155 owl:Class ENVO:04000006 biolink:NamedThing concentration of carbon dioxide in seawater The concentration of carbon dioxide when measured in seawater. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:39030 biolink:NamedThing Apodemus agrarius tmpaxzxjjyw_mondo_relaxed.owl Eurasian field mouse|Apodemus pratensis|striped field mouse|Old World field mouse GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020358 biolink:NamedThing coloboma of optic disc Coloboma of optic disc is a rare, genetic, developmental defect of the eye characterized by a unilateral or bilateral, sharply demarcated, bowl-shaped, glistening white excavation on the optic disc (typically decentered inferiorly) which usually manifests with varying degrees of reduced visual acuity. It can occur isolated or may associate other ocular (e.g. retinal detachment, retinoschisis-like separation) or systemic anomalies (e.g. renal). tmpaxzxjjyw_mondo_relaxed.owl coloboma of optic papilla GARD:0001438|ICD10:Q14.2|Orphanet:98947 owl:Class MONDO:0008297 biolink:NamedThing variegate porphyria Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions. tmpaxzxjjyw_mondo_relaxed.owl Protocoproporphyria|porphyria, South African type|porphyria variegata|VP|porphyria variegate|variegate porphyria|PPOX deficiency|protoporphyrinogen oxidase deficiency|variegate porphyria, homozygous variant DOID:4346|NCIT:C85219|UMLS:C0162532|MESH:D046350|Orphanet:79473|OMIM:176200|SCTID:58275005|GARD:0007848|ICD10:E80.2 https://rarediseases.info.nih.gov/diseases/7848/variegate-porphyria owl:Class MONDO:0011476 biolink:NamedThing MHC class I deficiency Immunodeficiency by defective expression of HLA class 1 is a very rare, primary, genetic, immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class I expression resulting in a non-specific clinical picture of impaired immune response and susceptibility to infections. tmpaxzxjjyw_mondo_relaxed.owl bare lymphocyte syndrome type I|Bare lymphocyte syndrome, type 1|BLS, type I|HLA Class 1 deficiency|BLSI|Bare lymphocyte syndrome type 1|HLA CLASS I deficiency|BLS type 1|immunodeficiency by defective expression of HLA class type 1|BARE lymphocyte syndrome, type I|immunodeficiency by defective expression of HLA class 1|Bls, type 1 GARD:0008427|SCTID:725136003|OMIM:604571|Orphanet:34592|DOID:0060009|UMLS:C1858266|OMIM:241600|ICD10:D81.6 owl:Class MONDO:0019611 biolink:NamedThing TSH-secreting pituitary adenoma A rare adenoma of the anterior lobe of the pituitary gland that produces thyrotropin. It is usually associated with goiter and hyperthyroidism. tmpaxzxjjyw_mondo_relaxed.owl TSHoma|TSH secreting adenoma of pituitary gland|TSH producing adenoma of the pituitary gland|thyroid stimulating hormone-producing adenoma|TSH secreting pituitary gland adenoma|thyroid stimulating hormone secreting adenoma of the pituitary gland|TSH secreting adenoma of the pituitary|thyroid stimulating hormone producing adenoma of pituitary|thyroid stimulating hormone producing pituitary adenoma|thyroid stimulating hormone secreting adenoma of pituitary|TSH-oma|thyrotrophic adenoma|TSH-producing adenoma|thyroid stimulating hormone secreting adenoma of the pituitary|TSH secreting pituitary adenoma|TSH producing adenoma of pituitary gland|TSH-producing pituitary gland adenoma|thyroid stimulating hormone-secreting pituitary adenoma|TSH secreting adenoma of pituitary|thyroid stimulating hormone secreting pituitary gland adenoma|TSH producing pituitary adenoma|thyroid stimulating hormone producing adenoma of the pituitary gland|TSH producing adenoma of pituitary|thyrotropin producing pituitary gland adenoma|TSH secreting adenoma of the pituitary gland|thyrotropinoma|TSH producing adenoma of the pituitary|thyrotroph adenoma|thyroid stimulating hormone producing adenoma of pituitary gland|thyroid stimulating hormone producing adenoma of the pituitary|thyrotrope adenoma|thyroid stimulating hormone producing pituitary gland adenoma|thyroid stimulating hormone secreting adenoma of pituitary gland|thyroid stimulating hormone secreting pituitary adenoma|TSH producing pituitary gland adenoma|pituitary thyrotrophic adenoma UMLS:C0346303|NCIT:C8011|ICD10:D35.2|Orphanet:91347 owl:Class MONDO:0001974 biolink:NamedThing hemangioma of orbit A hemangioma arising from the orbit. tmpaxzxjjyw_mondo_relaxed.owl hemangioma of the orbit|angioma of the orbit|orbit angioma|angioma of orbit|orbit hemangioma NCIT:C6245|DOID:14459|SCTID:121951000119101|UMLS:C1335128|ICD9:228.09 owl:Class MONDO:0005820 biolink:NamedThing Lassa fever A viral hemorrhagic fever that is caused by the Lassa virus, which is transmitted by contact with infected rodents; it is characterized by fever, headache, malaise, myalgia, and hearing loss. tmpaxzxjjyw_mondo_relaxed.owl Lassa hemorrhagic fever|LF MESH:D007835|NCIT:C128418|MedDRA:10023927|ICD9:078.89|DOID:9537|Orphanet:99824|EFO:0007338|ICD10:A96.2|SCTID:19065005|UMLS:C0023092 owl:Class MONDO:0044750 biolink:NamedThing lassa virus infectious disease tmpaxzxjjyw_mondo_relaxed.owl infection caused by Lassa virus|Lassa virus infection SCTID:721779001|UMLS:C1617072 owl:Class MONDO:0015812 biolink:NamedThing primary cutaneous gamma/delta-positive T-cell lymphoma Primary cutaneous gamma/delta-positive T-cell lymphoma is a rare, usually aggressive, subtype of cutaneous T-cell lymphoma characterized by infiltration of the epidermis, dermis or subcutaneous tissue by a clonal population of mature, gamma/delta positive cytotoxic T-cells. Typically it presents with ulcerating plaques, tumors, or subcutaneous nodules on the skin of the extremities, however, frequent involvement of mucosal and extranodal sites (such as the nasal cavity, gastrointestinal tract or lungs) is also observed. Cases associated with panniculitis may present with hemophagocytic syndrome (abrupt onset of fever, rash, cytopenia, hepatosplenomegaly and neurological compromise). Infiltration of lymph nodes, spleen and bone marrow is uncommon and resistance to multilineage chemotherapy is reported. tmpaxzxjjyw_mondo_relaxed.owl ICD10:C84.4|Orphanet:178533 owl:Class MONDO:0011108 biolink:NamedThing Stüve-Wiedemann syndrome A rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality. tmpaxzxjjyw_mondo_relaxed.owl Schwartz-Jampel syndrome neonatal|Stws|SJS2|Stuve-Wiedemann syndrome|STUVE-Wiedemann syndrome|Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome|Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome|Schwartz-Jampel syndrome, neonatal|neonatal Schwartz-Jampel syndrome|Schwartz-Jampel syndrome type 2|Stüve-Wiedemann dysplasia|neonatal Schwartz-Jampel syndrome type 2|Stüve-Wiedemann syndrome|Schwartz-Jampel syndrome, type 2 GARD:0005045|UMLS:C0796176|MESH:C537502|SCTID:254097005|Orphanet:3206|OMIM:601559|ICD10:Q78.8|UMLS:C0432240 owl:Class MONDO:0009896 biolink:NamedThing polymyoclonus, infantile tmpaxzxjjyw_mondo_relaxed.owl polymyoclonus, infantile UMLS:C1849731|MESH:C535524|OMIM:263550 owl:Class HP:0002493 biolink:NamedThing Upper motor neuron dysfunction A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. tmpaxzxjjyw_mondo_relaxed.owl Pyramidal tract dysfunction|Corticospinal tract dysfunction UMLS:C1839042|UMLS:C1504405 A functional deficit of the tract that conveys nervous impulses from the motor cortex of the brain to the spinal cord. The corticospinal tract mediates discrete voluntary skilled movements. Clinical features of corticospinal tract dysfunction may include spasticity and weakness, particularly affecting the lower limbs, as well as hyperreflexia, clonus at the ankles and knees, and extensor plantar responses (Babinski response). human_phenotype owl:Class MONDO:0009357 biolink:NamedThing humeroradial synostosis with craniofacial anomalies tmpaxzxjjyw_mondo_relaxed.owl humeroradial synostosis with craniofacial anomalies OMIM:236410|MESH:C566888|UMLS:C1968717 owl:Class MONDO:0010963 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 6 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene. tmpaxzxjjyw_mondo_relaxed.owl WFS1 autosomal dominant nonsyndromic deafness|DFNA6|deafness, autosomal dominant 6|deafness, autosomal dominant 14|autosomal dominant deafness 38|deafness, autosomal dominant type 6|autosomal dominant nonsyndromic deafness 6|DFNA38|autosomal dominant deafness 14|autosomal dominant deafness 6|autosomal dominant nonsyndromic deafness type 6|autosomal dominant nonsyndromic deafness caused by mutation in WFS1|DFNA14|deafness, autosomal dominant 38 MESH:C563421|UMLS:C1833021|OMIM:600965|ICD10:H90.3|Orphanet:90635|DOID:0110584 owl:Class MONDO:0007229 biolink:NamedThing Brachymetatarsus 4 tmpaxzxjjyw_mondo_relaxed.owl metatarsus IV, short|BRACHYMETATARSUS IV|Brachymetatarsus type 4|toe, fourth, short OMIM:113475 owl:Class UBERON:0006646 biolink:NamedThing muscle layer of epididymis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100445 biolink:NamedThing LCA5-related retinopathy A retinopathy caused by biallelic variants in the LCA5 gene. tmpaxzxjjyw_mondo_relaxed.owl amaurosis congenita of Leber, type 5|LCA5 retinopathy|Leber congenital amaurosis 5|LCA5|Leber congenital amaurosis caused by mutation in LCA5|LCA5 Leber congenital amaurosis|Leber congenital amaurosis type 5 owl:Class MONDO:0022999 biolink:NamedThing distichiasis heart congenital anomalies tmpaxzxjjyw_mondo_relaxed.owl GARD:0001890 https://rarediseases.info.nih.gov/diseases/1890/distichiasis-heart-congenital-anomalies owl:Class MONDO:0001975 biolink:NamedThing cavernous hemangioma of orbit A cavernous hemangioma arising from the orbit. tmpaxzxjjyw_mondo_relaxed.owl orbit cavernous hemangioma|orbit cavernous angioma|cavernous angioma of orbit|cavernous angioma of the orbit|cavernous hemangioma of the orbit DOID:14463|SCTID:254998002|ICD9:228.09|UMLS:C0346352|NCIT:C4546 owl:Class HGNC:12363 biolink:NamedThing TSC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010994 biolink:NamedThing micromelic dwarfism, Fryns type tmpaxzxjjyw_mondo_relaxed.owl spondyloepimetaphyseal dysplasia micromelic|micromelic dwarfism with cone epiphyses, metaphyseal dysplasia and vertebral segmentation defects|spondyloepimetaphyseal dysplasia, micromelic|dwarfism, micromelic, with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects|SEMD, micromelic 2022-04-01 UMLS:C1832800|SCTID:715479009|MESH:C537556|GARD:0003642|ICD10:Q77.8|OMIM:601096|Orphanet:2641 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class UBERON:0009745 biolink:NamedThing lymph node medullary cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006677 biolink:NamedThing surface of epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011558 biolink:NamedThing Usher syndrome type 2C A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl Usher syndrome type IIC|Usher syndrome, type IIb|Usher syndrome, type IIb, formerly|USHER syndrome, type IIC|Usher syndrome, type 2C|USH2C|Usher syndrome, type IIc, Gpr98/Pdzd7, digenic Orphanet:886|NCIT:C153174|GARD:0008497|Orphanet:231178|ICD10:H35.5|DOID:0110839|OMIM:605472|MESH:C536492 https://rarediseases.info.nih.gov/diseases/8497/usher-syndrome-type-2c owl:Class MONDO:0005556 biolink:NamedThing lupus nephritis Glomerulonephritis in the context of systemic lupus erythematosus. tmpaxzxjjyw_mondo_relaxed.owl Nephritides, lupus|SLE nephritis|nephritis, lupus|lupus Nephritides|lupus Glomerulonephritides|lupus glomerulonephritis|Glomerulonephritides, lupus|lupus nephritis|glomerulonephritis, lupus SCTID:68815009|GARD:0010747|EFO:0005761|MESH:D008181|NCIT:C34789|UMLS:C0024143|DOID:0080162 https://rarediseases.info.nih.gov/diseases/10747/lupus-nephritis owl:Class MONDO:0030929 biolink:NamedThing microcephaly 27, primary, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl MCPH27|microcephaly 27, primary, autosomal dominant OMIM:619180 https://github.com/monarch-initiative/mondo/issues/3738 owl:Class MONDO:0000769 biolink:NamedThing chicken egg allergy An egg allergy triggered by Gallus gallus eggs. tmpaxzxjjyw_mondo_relaxed.owl Gallus gallus egg allergy DOID:0060492 owl:Class MONDO:0020544 biolink:NamedThing streptococcal toxic-shock syndrome Streptococcal toxic-shock syndrome (streptococcal TSS) is an acute disease mediated by the production of superantigenic toxins characterized by the sudden onset of fever and other febrile symptoms, pain, multisystem organ involvement and potentially leading to coma, shock and death due to a Streptococcus pyogenes infection. tmpaxzxjjyw_mondo_relaxed.owl streptococcal TSS|Streptococcus caused toxic shock syndrome|Streptococcus toxic shock syndrome SCTID:240451000|ICD10:A48.3|MedDRA:10044251|UMLS:C0343532|Orphanet:99918 owl:Class HP:0000099 biolink:NamedThing Glomerulonephritis Inflammation of the renal glomeruli. tmpaxzxjjyw_mondo_relaxed.owl Glomerular nephritis SNOMEDCT_US:36171008|MSH:D005921|UMLS:C0017658 human_phenotype owl:Class HP:0000123 biolink:NamedThing Nephritis The presence of inflammation affecting the kidney. tmpaxzxjjyw_mondo_relaxed.owl Kidney inflammation UMLS:C0027697|SNOMEDCT_US:52845002|MSH:D009393 HP:0008634 human_phenotype owl:Class MONDO:0007337 biolink:NamedThing cleft palate-lateral synechia syndrome Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner. tmpaxzxjjyw_mondo_relaxed.owl CPLS syndrome|cleft palate lateral synechia syndrome|Cpls syndrome|syngnathia|cleft palate-lateral synechia syndrome SCTID:403772000|OMIM:119550|MESH:C563047|ICD9:759.89|GARD:0001391|DOID:0080313|UMLS:C0795898|ICD10:Q87.8|Orphanet:2016 https://rarediseases.info.nih.gov/diseases/1391/cleft-palate-lateral-synechia-syndrome owl:Class MONDO:0010344 biolink:NamedThing intellectual disability, X-linked 45 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF81 gene. tmpaxzxjjyw_mondo_relaxed.owl MRX45|intellectual disability, X-linked type 45|mental retardation, X-linked 45|ZNF81 non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in ZNF81|mental retardation, X-linked type 45|intellectual disability, X-linked 45 UMLS:C1845333|OMIM:300498|MESH:C564503 owl:Class HP:0000606 biolink:NamedThing Abnormality of the periorbital region An abnormality of the region situated around the orbit of the eye. tmpaxzxjjyw_mondo_relaxed.owl Malformation of the periorbital region|Abnormality of the region around the eye socket|Anomaly of the periorbital region|Abnormality of the region around the eye|Deformity of the periorbital region UMLS:C4025837 human_phenotype owl:Class CL:1000298 biolink:NamedThing mesothelial cell of dura mater A mesothelial cell that is part of the dura mater. tmpaxzxjjyw_mondo_relaxed.owl squamous mesothelial cell of dura mater FMA:256516 cell owl:Class HP:0008496 biolink:NamedThing Multiple rows of eyelashes tmpaxzxjjyw_mondo_relaxed.owl Extra rows of eyelashes|Double row of eyelashes|Two rows of eyelashes|Multiple rows of eyelashes SNOMEDCT_US:95339000|UMLS:C3550336|UMLS:C0423848 human_phenotype owl:Class MONDO:0022308 biolink:NamedThing corticobasal degeneration disorder A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment. tmpaxzxjjyw_mondo_relaxed.owl corticodentatonigral degeneration with neuronal achromasia|cortical basal ganglionic Degeneration|corticobasal syndrome|cortical-basal ganglionic degeneration|cortical basal ganglionic degeneration|CBGD|corticobasal degeneration|cortico-basal ganglionic Degeneration (CBGD) NCIT:C129069|GARD:0000046 https://rarediseases.info.nih.gov/diseases/46/corticobasal-degeneration owl:Class MONDO:0032941 biolink:NamedThing myopia 27 tmpaxzxjjyw_mondo_relaxed.owl MYP27|MYOPIA 27 OMIM:618827 owl:Class GO:0051350 biolink:NamedThing negative regulation of lyase activity Any process that stops or reduces the rate of lyase activity, the catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. tmpaxzxjjyw_mondo_relaxed.owl down regulation of lyase activity|downregulation of lyase activity|down-regulation of lyase activity|inhibition of lyase activity|lyase inhibitor owl:Class NBO:0000551 biolink:NamedThing visual object recognition "Ability to perceive the physical properties of an object (such as shape, colour and texture) and apply semantic attributes to the object, which includes the understanding of its use, previous experience with the object and how it relates to others." [wikipedia:Cognitive_Neuroscience_of_Visual_Object_Recognition] tmpaxzxjjyw_mondo_relaxed.owl owl:Class NBO:0000550 biolink:NamedThing recognition memory "Ability to correctly remember something that has been encountered before." [wikipedia:Recognition_memory] tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:28845 biolink:NamedThing Dibothriocephalus dendriticus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002877 biolink:NamedThing cervical carcinosarcoma A mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign or malignant epithelial elements. This category includes adenosarcoma and carcinosarcoma. tmpaxzxjjyw_mondo_relaxed.owl cervical mixed epithelial and mesenchymal neoplasm|malignant Mullerian mixed tumor of the cervix uteri|carcinosarcoma of the cervix uteri|cervical malignant mixed mesodermal (Mullerian) tumor|cervical malignant Mullerian mixed tumor|uterine cervix carcinosarcoma|cervical malignant mixed Mullerian tumor|malignant Müllerian mixed tumor of the cervix uteri|cervical malignant mixed mesodermal mullerian tumor|cervical carcinosarcoma|cervical malignant mixed mesodermal (Müllerian) tumor|cervical malignant Müllerian mixed tumor UMLS:C1516420|Orphanet:213787|UMLS:C1332917|NCIT:C36097|ICD10:C53|SCTID:764951002|UMLS:CN201068|DOID:4112 owl:Class MONDO:0016277 biolink:NamedThing malignant mixed epithelial and mesenchymal tumor of cervix uteri tmpaxzxjjyw_mondo_relaxed.owl cervical malignant mixed epithelial and mesenchymal tumor|mixed epithelial and mesenchymal cancer of cervix uteri Orphanet:213782|ICD10:C53.1|UMLS:CN201067|ICD10:C53.8|ICD10:C53.0 owl:Class CHEBI:38032 biolink:NamedThing carbotricyclic compound A carbopolyclic compound comprising of three carbocyclic rings. tmpaxzxjjyw_mondo_relaxed.owl carbotricyclic compounds owl:Class MONDO:0006844 biolink:NamedThing magnesium deficiency A nutritional condition produced by a deficiency of magnesium in the diet, characterized by anorexia, nausea, vomiting, lethargy, and weakness. Symptoms are paresthesias, muscle cramps, irritability, decreased attention span, and mental confusion, possibly requiring months to appear. Deficiency of body magnesium can exist even when serum values are normal. In addition, magnesium deficiency may be organ-selective, since certain tissues become deficient before others. (Harrison's Principles of Internal Medicine, 12th ed, p1936) tmpaxzxjjyw_mondo_relaxed.owl EFO:1001029|MESH:D008275|MedDRA:10025433|SCTID:238118002|UMLS:C0024473|ICD10:E61.2 owl:Class HGNC:10809 biolink:NamedThing SGCG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009632 biolink:NamedThing microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies tmpaxzxjjyw_mondo_relaxed.owl microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies OMIM:251700|UMLS:C1968637|MESH:C566884 owl:Class MONDO:0007907 biolink:NamedThing lipoma of the conjunctiva tmpaxzxjjyw_mondo_relaxed.owl lipoma of the conjunctiva MESH:C563620|OMIM:151700|UMLS:C1835373 owl:Class MONDO:0001775 biolink:NamedThing chronic duodenal ileus tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156087|ICD9:537.2|ICD10:K31.5|DOID:13687|SCTID:52232007 owl:Class MONDO:0002688 biolink:NamedThing duodenal obstruction Blockage of the normal flow of stomach contents through the duodenum. tmpaxzxjjyw_mondo_relaxed.owl SCTID:95532008|UMLS:C0013292|NCIT:C79548|EFO:1000908|ICD10:K31.5|MESH:D004380|DOID:3558 owl:Class UBERON:0034696 biolink:NamedThing fold of peritoneum tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0072527 biolink:NamedThing pyrimidine-containing compound metabolic process The chemical reactions and pathways involving a pyrimidine-containing compound, i.e. any compound that contains pyrimidine or a formal derivative thereof. tmpaxzxjjyw_mondo_relaxed.owl pyrimidine-containing compound metabolism|pyrimidine and derivative metabolic process owl:Class UBERON:0011265 biolink:NamedThing carpometacarpal joint of digit 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011074 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 7 An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has material basis in variation in the chromosome region 1q21-q23. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant deafness 7|autosomal dominant nonsyndromic deafness 7|DFNA7|deafness, autosomal dominant 7|autosomal dominant nonsyndromic deafness type 7 UMLS:C1832379|ICD10:H90.3|DOID:0110591|OMIM:601412|MESH:C563321 owl:Class MONDO:0001652 biolink:NamedThing scrotum melanoma A melanoma (disease) that involves the scrotum. tmpaxzxjjyw_mondo_relaxed.owl melanoma of the scrotum|melanoma (disease) of scrotum|scrotum melanoma (disease)|scrotal melanoma|melanoma of scrotum DOID:13160|UMLS:C1331544|NCIT:C7361 owl:Class MONDO:0019777 biolink:NamedThing Carpenter-Waziri syndrome Carpenter-Waziri syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies). tmpaxzxjjyw_mondo_relaxed.owl OMIM:309580|Orphanet:93973|UMLS:CN206718 owl:Class MONDO:0014432 biolink:NamedThing Bardet-Biedl syndrome 2 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS2 gene. tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome type 2|Bardet-Biedl syndrome caused by mutation in BBS2|BBS2|Bardet-Biedl syndrome 2|BBS|Bardet-Biedl syndrome|BBS2 Bardet-Biedl syndrome GARD:0000821|UMLS:C2936863|Orphanet:110|ICD10:Q87.89|MESH:C537910|OMIM:209900|OMIM:615981|DOID:0110124 owl:Class MONDO:0013704 biolink:NamedThing intellectual disability, autosomal recessive 30 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal recessive 30|MRT30|mental retardation, autosomal recessive 30 UMLS:C3280540|OMIM:614342|Orphanet:88616 owl:Class MONDO:0010956 biolink:NamedThing enamel hypoplasia, cataracts, and aqueductal stenosis tmpaxzxjjyw_mondo_relaxed.owl Seow Najjar syndrome|enamel hypoplasia, capsular cataracts, and ductal stenosis|enamel hypoplasia, cataracts, and aqueductal stenosis OMIM:600907|UMLS:C1833163|MESH:C563430|GARD:0004801 owl:Class MONDO:0010508 biolink:NamedThing intellectual disability, X-linked 103 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked type 103|intellectual disability, X-linked type 103|KLHL15 non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in KLHL15|intellectual disability, X-linked 103|MRX103|mental retardation, X-linked 103 UMLS:C4310818|OMIM:300982 owl:Class HGNC:28033 biolink:NamedThing CCDC174 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11538 biolink:NamedThing TAF4B tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006810 biolink:NamedThing olecranon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002128 biolink:NamedThing mononeuritis multiplex A painful asymmetric asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas; associated with (but not limited to) systemic disorders such as diabetes, vasculitis, amyloidosis, direct tumor involvement, polyarteritis nodosa, rheumatoid arthritis, systemic lupus erythematosus, and paraneoplastic syndromes. It also may be associated with Lyme disease, Wegener's granulomatosis, Sjogren syndrome, cryoglobulinemia, hypereosinophilia, temporal arteritis, scleroderma, sarcoidosis, leprosy, acute viral hepatitis A, and acquired immunodeficiency syndrome. tmpaxzxjjyw_mondo_relaxed.owl mononeuritis multiplex GARD:0007056|DOID:1835|UMLS:C0151295|SCTID:30292005|ICD9:354.5|ICD10:G58.7|NCIT:C70938 https://rarediseases.info.nih.gov/diseases/7056/mononeuritis-multiplex owl:Class MONDO:0019925 biolink:NamedThing paternal uniparental disomy of chromosome 21 Paternal uniparental disomy of chromosome 21 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. tmpaxzxjjyw_mondo_relaxed.owl UPD(21)pat|paternal uniparental disomy of chromosome type 21 Orphanet:96195|ICD10:Q99.8|SCTID:766720000 owl:Class MONDO:0030061 biolink:NamedThing periventricular nodular heterotopia 9 tmpaxzxjjyw_mondo_relaxed.owl periventricular nodular heterotopia 9|PVNH9|PERIVENTRICULAR NODULAR HETEROTOPIA 9 OMIM:618918 owl:Class MONDO:0044702 biolink:NamedThing X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl deafness, X-linked 7|DFNX7 DOID:0111738|OMIM:301018|Orphanet:500188 owl:Class MONDO:0011619 biolink:NamedThing crumpled helices and small mouth tmpaxzxjjyw_mondo_relaxed.owl sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay|crumpled helices and small mouth MESH:C536217|GARD:0010078|UMLS:C1853826|OMIM:605945 https://rarediseases.info.nih.gov/diseases/10078/crumpled-helices-and-small-mouth owl:Class MONDO:0003971 biolink:NamedThing gastric pylorus carcinoma A carcinoma that arises from the pylorus. tmpaxzxjjyw_mondo_relaxed.owl cancer of pylorus of stomach|carcinoma of the gastric pylorus|gastric pylorus carcinoma|carcinoma of gastric pylorus|carcinoma of the pylorus of the stomach|gastric pylorus cancer|cancer of the gastric pylorus|carcinoma of pylorus of stomach|cancer of the pylorus of the stomach|cancer of gastric pylorus|gastric pylorus (stomach) cancer NCIT:C6795|DOID:6703|UMLS:C1333787 owl:Class MONDO:0025389 biolink:NamedThing brucellosis, bovine A disease of cattle caused by bacteria of the genus brucella leading to abortion in late pregnancy. brucella abortus is the primary infective agent. tmpaxzxjjyw_mondo_relaxed.owl disease, bang|bang's disease|bovine brucellosis|disease, bang's|bovine Brucelloses|bang disease|Bangs disease|Brucelloses, bovine MESH:D002007 owl:Class MPATH:607 biolink:NamedThing healing and repair structure Physical entity or structure associated with normal or abnormal tissue healing or repair following extrinsic or intrinsic damage. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MPATH:603 biolink:NamedThing pathological anatomical entity Anatomically located instance of pathological response or entity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0002422 biolink:NamedThing acinar Pertaining to the individual parts making up an aggregate fruit like a many-lobed "berry," such as a raspberry. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007166 biolink:NamedThing ataxia with fasciculations tmpaxzxjjyw_mondo_relaxed.owl ataxia with fasciculations OMIM:108700|MESH:C566246|UMLS:C1862440 owl:Class GO:0006000 biolink:NamedThing fructose metabolic process The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. tmpaxzxjjyw_mondo_relaxed.owl fructose metabolism owl:Class MONDO:0013462 biolink:NamedThing fucosyltransferase 6 deficiency tmpaxzxjjyw_mondo_relaxed.owl fucosyltransferase 6 deficiency OMIM:613852|UMLS:C3151219 owl:Class MONDO:0001242 biolink:NamedThing disseminated intravascular coagulation in newborn A clotting condition characterized as a disruption in the homeostatic balance of the coagulation and fibrinolytic systems presenting as a pathological activation of coagulation mechanisms leading to the formation of small clots inside the blood vessels throughout the body of the newborn. tmpaxzxjjyw_mondo_relaxed.owl DIC in newborn|disseminated intravascular coagulation in newborn|neonatal disseminated intravascular coagulation SCTID:34417008|NCIT:C111856|UMLS:C0158992|ICD10:P60|ICD9:776.2|DOID:11246 owl:Class MONDO:0001243 biolink:NamedThing disseminated intravascular coagulation A pathological process where the blood starts to coagulate throughout the whole body. This depletes the body of its platelets and coagulation factors, and there is an increased risk of hemorrhage. tmpaxzxjjyw_mondo_relaxed.owl disseminated intravascular coagulation|coagulation (DIC), disseminated intravascular|consumptive coagulopathy|DIC|disseminated intravascular coagulation (DIC)|DIC, disseminated intravascular coagulation|diffuse or disseminated intravascular coagulation|defibrination syndrome|intravascular coagulation (DIC), disseminated DOID:11247|UMLS:C4321305|SCTID:67406007|MESH:D004211|ICD10:D65|ICD9:286.6|UMLS:C0012739|NCIT:C2992 owl:Class MONDO:0004510 biolink:NamedThing inflammatory liposarcoma A rare morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum. It is characterized by the presence of a predominant inflammatory infiltrate composed of lymphoplasmacytic aggregates. tmpaxzxjjyw_mondo_relaxed.owl inflammatory liposarcoma NCIT:C6508|UMLS:C1370890|DOID:8233 owl:Class MONDO:0018741 biolink:NamedThing paracetamol poisoning tmpaxzxjjyw_mondo_relaxed.owl acetaminophen poisoning SCTID:70273001|ICD9:965.4|Orphanet:464458 owl:Class HGNC:17194 biolink:NamedThing NDUFA13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015331 biolink:NamedThing malformation syndrome with skin/mucosae involvement tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:139027|UMLS:CN199361 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class UBERON:0005730 biolink:NamedThing pelvic appendage field tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35695 biolink:NamedThing dicarboxylic acid monoanion Any dicarboxylic acid anion that is a monoanion obtained by the deprotonation of only one of the carboxy groups of the dicarboxylic acid. tmpaxzxjjyw_mondo_relaxed.owl dicarboxylic acid monoanions owl:Class UBERON:0013503 biolink:NamedThing caudal vertebra cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025089 biolink:NamedThing infectious bovine rhinotracheitis A herpesvirus infection of cattle characterized by inflammation and necrosis of the mucous membranes of the upper respiratory tract. tmpaxzxjjyw_mondo_relaxed.owl bovine Rhinotracheitides, infectious|infectious bovine Rhinotracheitides|Rhinotracheitides, infectious bovine|bovine Rhinotracheitis, infectious|Rhinotracheitis, infectious bovine MESH:D007241|UMLS:C0021334 owl:Class MONDO:0017165 biolink:NamedThing bile acid CoA ligase deficiency and defective amidation Bile acid CoA ligase deficiency and defective amidation is an anomaly of bile acid synthesis characterized by fat malabsorption, neonatal cholestasis and growth failure. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:276066|SCTID:717047007|UMLS:C4274079 owl:Class MONDO:0024797 biolink:NamedThing adult brain stem neoplasm A brainstem neoplasm that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl neoplasm of adult brainstem|neoplasm of the adult brain stem|tumor of the adult brain stem|neoplasm of the adult brainstem|tumor of adult brainstem|neoplasm of adult brain stem|tumor of adult brain stem|brainstem neoplasm of adults|adult brain stem tumor|tumor of the adult brainstem|adult brain stem neoplasm|adult brainstem tumor|adult brainstem neoplasm NCIT:C5967|UMLS:C1332192 owl:Class HGNC:25118 biolink:NamedThing OTULIN tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000743 biolink:NamedThing land consumption process A process in which natural ecosystems present over an expanse of land are removed and replaced with anthropogenic ecosystems. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004259 biolink:NamedThing lower arm blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015294 biolink:NamedThing nephrogenic systemic fibrosis Nephrogenic systemic fibrosis (NSF) is a rare systemic fibrosing condition observed in renally impaired patients and characterized by a hardening and thickening of the skin with fibrotic plaques or papules, pruritus, joint pain and stiffness, muscle weakness, limitation of range of motion, and yellowed eyes. It is generally associated with administration of gadolinium-based magnetic resonance imaging contrast agents (GBCA) in patients with kidney disease. tmpaxzxjjyw_mondo_relaxed.owl NFD|NSF|nephrogenic fibrosing dermopathy ICD9:588.89|Orphanet:137617|NCIT:C84920|UMLS:C3888044|GARD:0009725|MedDRA:10067467|MESH:D054989|SCTID:424114000|UMLS:C1619692|EFO:1001814 https://rarediseases.info.nih.gov/diseases/9725/nephrogenic-systemic-fibrosis owl:Class UBERON:0015154 biolink:NamedThing lateral gland of orbital region tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003847 biolink:NamedThing thyroid artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017525 biolink:NamedThing polydactyly of a triphalangeal thumb, unilateral tmpaxzxjjyw_mondo_relaxed.owl preaxial polydactyly type 2, unilateral|unilateral PPD2 ICD10:Q69.1|Orphanet:295148|UMLS:CN203256 owl:Class GO:0051446 biolink:NamedThing positive regulation of meiotic cell cycle Any process that activates or increases the frequency, rate or extent of progression through the meiotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl upregulation of progression through meiotic cell cycle|up-regulation of progression through meiotic cell cycle|up regulation of progression through meiotic cell cycle|positive regulation of progression through meiotic cell cycle|activation of progression through meiotic cell cycle|stimulation of progression through meiotic cell cycle|positive regulation of meiotic cell cycle progression owl:Class HP:0009763 biolink:NamedThing Limb pain Chronic pain in the limbs with no clear focal etiology. tmpaxzxjjyw_mondo_relaxed.owl Pain in extremities|Limb pain UMLS:C0030196|SNOMEDCT_US:90834002 peter 2009-02-01T03:55:10Z human_phenotype owl:Class MONDO:0001845 biolink:NamedThing uterine corpus lipoleiomyoma A rare morphologic variant of uterine corpus leiomyoma characterized by the presence of scattered islands of mature adipocytes within the smooth muscle neoplasm. tmpaxzxjjyw_mondo_relaxed.owl uterine corpus lipomatous leiomyoma UMLS:C1519856|DOID:13957|NCIT:C40168|EFO:1000614 owl:Class MONDO:0100435 biolink:NamedThing Schwartz-Jampel syndrome type 1 tmpaxzxjjyw_mondo_relaxed.owl Schwartz-Jampel syndrome 1|Chondrodystrophic myotonia|Schwartz-Jampel syndrome, type 1|SJA syndrome|SJS1|Schwartz-Jampel syndrome type 1 OMIM:255800|DOID:0090005 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0010705 biolink:NamedThing ouabain resistance tmpaxzxjjyw_mondo_relaxed.owl ouabain resistance|OUBR 2022-04-01 OMIM:311350 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0018773 biolink:NamedThing autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:476093|UMLS:CN776822 owl:Class MONDO:0000702 biolink:NamedThing microscopic colitis Inflammation of the colon that is only apparent by microscopic examination. tmpaxzxjjyw_mondo_relaxed.owl MESH:D046728|SCTID:235753003|DOID:0060182|Orphanet:58220|NCIT:C38504|EFO:1001295|ICD9:558.9|UMLS:C0400821 owl:Class UBERON:0003614 biolink:NamedThing blood vessel elastic tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class NBO:0000751 biolink:NamedThing perception behavior by means tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005867 biolink:NamedThing Mycoplasma pneumoniae pneumonia Interstitial pneumonia caused by extensive infection of the lungs (lung) and bronchi, particularly the lower lobes of the lungs, by mycoplasma pneumoniae in humans. In sheep, it is caused by mycoplasma ovipneumoniae. In cattle, it may be caused by mycoplasma dispar. tmpaxzxjjyw_mondo_relaxed.owl pneumonia due to Mycoplasma pneumoniae (disorder)|Mycoplasmal pneumonia|pneumonia due to Eaton's agent|Mycoplasma pneumonia|cold agglutinin positive pneumonia|pneumonia due to Mycoplasma pneumoniae DOID:13276|SCTID:46970008|EFO:0007387|MESH:D011019|GARD:0007125|ICD10:J15.7|NCIT:C122526|ICD9:483.0 owl:Class MONDO:0033636 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 4 tmpaxzxjjyw_mondo_relaxed.owl MC4DN4 OMIM:619048 owl:Class GO:0090154 biolink:NamedThing positive regulation of sphingolipid biosynthetic process Any process that increases the rate, frequency or extent of sphingolipid biosynthesis. Sphingolipid biosynthesis is the chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:2000679 biolink:NamedThing positive regulation of transcription regulatory region DNA binding Any process that activates or increases the frequency, rate or extent of transcription regulatory region DNA binding. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007895 biolink:NamedThing platyspondylic dysplasia, Torrance type tmpaxzxjjyw_mondo_relaxed.owl lethal short-limbed Platyspondylic dwarfism Torrance type|Platyspondylic lethal skeletal dysplasia Torrance type|Platyspondylic lethal skeletal dysplasia, Torrance type|thanatophoric dysplasia Torrance variant|thanatophoric dysplasia, Luton variant|Platyspondylic lethal skeletal dysplasia, Luton type|platyspondylic dysplasia, Torrance type|PLSDT|PLSD-T|thanatophoric dysplasia, Torrance variant|Platyspondylic dysplasia, Torrance-Luton type|lethal short-limbed Platyspondylic dwarfism, Torrance type OMIM:151210|GARD:0004382|DOID:0111508|MESH:C563627|Orphanet:85166|UMLS:C1835437|ICD10:Q77.8 owl:Class OBI:0002076 biolink:NamedThing collection of specimens A material entity that has two or more specimens as its parts. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:83822 biolink:NamedThing non-proteinogenic L-alpha-amino acid Any L-alpha-amino acid which is not a member of the group of 23 proteinogenic amino acids. tmpaxzxjjyw_mondo_relaxed.owl non-proteinogenic L-alpha-amino acids owl:Class MONDO:0030261 biolink:NamedThing pontocerebellar hypoplasia, type 1F tmpaxzxjjyw_mondo_relaxed.owl pontocerebellar hypoplasia, type 1F|PCH1F OMIM:619304 owl:Class UBERON:0001188 biolink:NamedThing right testicular artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017482 biolink:NamedThing humeral agenesis/hypoplasia, unilateral tmpaxzxjjyw_mondo_relaxed.owl humeral intercalary meromelia, unilateral Orphanet:295061|ICD10:Q71.8 owl:Class MONDO:0013208 biolink:NamedThing cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome tmpaxzxjjyw_mondo_relaxed.owl hypermanganesemia with dystonia polycythemia and cirrhosis|hypermanganesemia with dystonia 1|HMNDYT1|cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome|hypermanganesemia with dystonia, polycythemia, and cirrhosis|HMDPC DOID:0080536|UMLS:CN035550|SCTID:702377007|ICD9:277.89|GARD:0010706|MESH:C548016|Orphanet:309854|OMIM:613280 owl:Class MONDO:0018419 biolink:NamedThing autosomal recessive spastic paraplegia type 67 Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities. tmpaxzxjjyw_mondo_relaxed.owl SPG67 UMLS:CN226126|SCTID:766767001|ICD10:G11.4|Orphanet:401820 owl:Class GO:0006570 biolink:NamedThing tyrosine metabolic process The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. tmpaxzxjjyw_mondo_relaxed.owl tyrosine metabolism owl:Class MONDO:0007476 biolink:NamedThing familial Dupuytren contracture Familial Dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. It most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared). tmpaxzxjjyw_mondo_relaxed.owl plantar fibromas|Dupuytren contracture|plantar fibromatosis, familial|Dupuytren contracture 1 ICD10:M72.0|GARD:0012165|SCTID:274142002|Orphanet:79142|OMIM:126900 owl:Class MONDO:0003039 biolink:NamedThing nominal aphasia Impaired ability to retrieve words; in particular, an inability to recall the names of objects and people. tmpaxzxjjyw_mondo_relaxed.owl anomia|anomic aphasia (finding)|anomic aphasia NCIT:C34386|DOID:4541|MESH:D000849 owl:Class HP:0001909 biolink:NamedThing Leukemia A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. tmpaxzxjjyw_mondo_relaxed.owl Blood cancer|Leukaemia SNOMEDCT_US:129154003|SNOMEDCT_US:93143009|UMLS:C0376545|SNOMEDCT_US:87163000|UMLS:C0023418|MSH:D019337|SNOMEDCT_US:269475001|MSH:D007938 HP:0005519|HP:0006726 human_phenotype owl:Class HP:0001881 biolink:NamedThing Abnormal leukocyte morphology An abnormality of leukocytes. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of leukocytes SNOMEDCT_US:24827003|SNOMEDCT_US:134199001|UMLS:C0152009 Leukocytes are nucleated cells of the myeloid or lymphoid lineages, found in blood or other tissue. human_phenotype owl:Class UBERON:0000471 biolink:NamedThing compound organ component tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012642 biolink:NamedThing major affective disorder 4 tmpaxzxjjyw_mondo_relaxed.owl bipolar affective disorder|major affective disorder 4|MAJOR affective disorder 4|MAFD4 OMIM:611247|MESH:C567073 owl:Class MONDO:0015832 biolink:NamedThing true unicornuate uterus True unicornuate uterus is a rare, non-syndromic uterovaginal malformation characterized by a crescent-shaped, small-sized uterus containing a single horn and fallopian tube with no rudimentary horn. Urinary tract anomalies are frequently associated. tmpaxzxjjyw_mondo_relaxed.owl unicornuate uterus without rudimentary horn|complete unilateral Mullerian aplasia|complete unilateral Müllerian aplasia|complete unilateral aplasia of the Mullerian ducts|complete unilateral aplasia of the Müllerian ducts Orphanet:180074|ICD10:Q51.4 owl:Class MONDO:0024415 biolink:NamedThing hemorrhagic duodenitis tmpaxzxjjyw_mondo_relaxed.owl multiple duodenal erosions|erosive duodenitis|hemorrhagic duodenitis ICD9:535.61|UMLS:C0341245|SCTID:95531001 owl:Class HGNC:11431 biolink:NamedThing STX16 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000597 biolink:NamedThing Munchausen by proxy A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. tmpaxzxjjyw_mondo_relaxed.owl Munchausen by proxy syndrome|Munchausen syndrome by proxy MESH:D016735|SCTID:95637005|DOID:0060045|GARD:0007117 https://rarediseases.info.nih.gov/diseases/7117/munchausen-by-proxy-syndrome owl:Class MONDO:0002103 biolink:NamedThing factitious disorder A category of psychiatric disorders which are characterized by physical or psychological symptoms that are intentionally produced in order to assume the sick role; there is no external incentive for the behavior, such as economic gain or avoiding legal responsibility, and the person is unaware of any self-motivating factors. tmpaxzxjjyw_mondo_relaxed.owl Munchausen syndrome MESH:D009110|NCIT:C92198|ICD10:F68.11|DOID:1766|ICD9:300.19|ICD9:300.16|SCTID:50705009 owl:Class MONDO:0011870 biolink:NamedThing annular epidermolytic ichthyosis Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. tmpaxzxjjyw_mondo_relaxed.owl AEI|Ciehk|epidermolytic ichthyosis, annular|ichthyosis, cyclic, with epidermolytic hyperkeratosis ICD10:Q80.3|Orphanet:312|MESH:C564367|OMIM:607602|Orphanet:281139|SCTID:718631006|UMLS:C1843463 owl:Class GO:0061448 biolink:NamedThing connective tissue development The progression of a connective tissue over time, from its formation to the mature structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016984 biolink:NamedThing nevus of Ota Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus. tmpaxzxjjyw_mondo_relaxed.owl Ota's Nevus|Nevus fusculoceruleus ophthalmomaxillaris|oculodermal melanocytosis|oculocutaneous melanocytic Nevus EFO:1000396|MedDRA:10051713|UMLS:C0027961|ICD9:224.0|NCIT:C7583|MESH:D009507|ICD10:D22.3|SCTID:414929001|Orphanet:263425 owl:Class MONDO:0013694 biolink:NamedThing intellectual disability, autosomal recessive 31 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 31|intellectual disability, autosomal recessive 31|MRT31 OMIM:614329|UMLS:C3280523 owl:Class HP:0002823 biolink:NamedThing Abnormality of femur morphology Any anomaly of the structure of the femur. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the femora|Abnormality of the thighbone UMLS:C4021750 The femur (plural: femora) is the thigh bone. HP:0001439 human_phenotype owl:Class GO:0043235 biolink:NamedThing receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022872 biolink:NamedThing corpus callosum dysgenesis X-linked recessive tmpaxzxjjyw_mondo_relaxed.owl GARD:0001543 https://rarediseases.info.nih.gov/diseases/1543/corpus-callosum-dysgenesis-x-linked-recessive owl:Class MONDO:0012075 biolink:NamedThing oligodontia-cancer predisposition syndrome tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant ectodermal dysplasia-cancer predisposition syndrome|ODCRCS|oligodontia-cancer predisposition syndrome|tooth agenesis-colorectal cancer syndrome|oligodontia-colorectal cancer syndrome OMIM:608615|UMLS:C1837750|MESH:C563898|Orphanet:300576 owl:Class MONDO:0017949 biolink:NamedThing ABeta amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages. tmpaxzxjjyw_mondo_relaxed.owl cerebral amyloid angiopathy, APP-related, Arctic variant|hereditary cerebral hemorrhage with amyloidosis, Arctic type|ABetaE22G amyloidosis|HCHWA, Arctic type ICD10:E85.4+|Orphanet:324723|OMIM:605714|ICD10:I68.0* owl:Class GO:0000902 biolink:NamedThing cell morphogenesis The developmental process in which the size or shape of a cell is generated and organized. tmpaxzxjjyw_mondo_relaxed.owl cellular morphogenesis owl:Class MONDO:0015349 biolink:NamedThing progressive cavitating leukoencephalopathy Progressive cavitating leukoencephalopathy is characterized by acute episodes of neurological deficit (ataxia, dysarthria, seizures) with irritability and opisthotonus followed by either steady deterioration or alternating periods of rapid progression and prolonged periods of stability. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304840|SCTID:719267003|ICD10:E75.2|Orphanet:139447 owl:Class MONDO:0015849 biolink:NamedThing longitudinal vaginal septum tmpaxzxjjyw_mondo_relaxed.owl HP:0008740|ICD10:Q52.1|Orphanet:180157 owl:Class UBERON:0003848 biolink:NamedThing gonadal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001526 biolink:NamedThing labia minora cancer A malignant neoplasm that affects the labia minora. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of the labia minora|malignant neoplasm of labium minora|malignant labia minora tumor|malignant neoplasm of labia minora|malignant labia minora neoplasm|malignant neoplasm of the labia minora|malignant tumor of labia minora|malignant labium minora neoplasm|labium minora cancer|cancer of labium minora|malignant neoplasm of labium minus SCTID:363447008|ICD10:C51.1|UMLS:C0496815|DOID:1243|NCIT:C7637|ICD9:184.2 owl:Class MONDO:0040502 biolink:NamedThing glucocorticoid deficiency 5 tmpaxzxjjyw_mondo_relaxed.owl GCCD5|glucocorticoid deficiency 5 OMIM:617825 owl:Class MONDO:0004223 biolink:NamedThing polyp of middle ear A benign polypoid growth in the middle ear. tmpaxzxjjyw_mondo_relaxed.owl middle ear polyp|polyp of the middle ear|polyp - middle ear|middle Ear polyp NCIT:C6933|ICD10:H74.4|UMLS:C0271466|DOID:7439|SCTID:73103007 owl:Class GO:0060556 biolink:NamedThing regulation of vitamin D biosynthetic process Any process that modulates the rate frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016444 biolink:NamedThing primary anetoderma Primary anetoderma is a rare skin disease characterized by loss of elastin tissue resulting in localized areas of flaccid skin in the absence of a secondary cause. tmpaxzxjjyw_mondo_relaxed.owl primary macular atrophy MESH:D057088|ICD10:L90.2|ICD10:L90.1|SCTID:238829001|Orphanet:228272|UMLS:C0406550 owl:Class MONDO:0013307 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia 2 Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene. tmpaxzxjjyw_mondo_relaxed.owl myopathy, lactic acidosis, and sideroblastic anemia 2|YARS2 mitochondrial myopathy and sideroblastic anemia|MLASA2|mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2|myopathy, lactic acidosis, and sideroblastic Anemia type 2 OMIM:613561|Orphanet:2598|DOID:0111186|UMLS:C3150802 owl:Class MONDO:0043765 biolink:NamedThing presbycusis Bilateral hearing loss caused by progressive degeneration of cochlear structures and central auditory pathways, typically associated with the aging process. tmpaxzxjjyw_mondo_relaxed.owl presbyacusia|senile deafness|presbycusis|age-related hearing loss|Presbycuses NCIT:C116367|MESH:D011304|SCTID:49526009 owl:Class MONDO:0011200 biolink:NamedThing torsion dystonia 7 A focal dystonia characterized by predomiantly cervical dystonia that has material basis in variation in the chromosome region 18p. tmpaxzxjjyw_mondo_relaxed.owl cervical dystonia, primary|torsion dystonia type 7|dystonia 7, torsion|DYT7|torsion dystonia, focal adult-onset Orphanet:93963|MESH:C566572|DOID:0090040|OMIM:602124 owl:Class MONDO:0007144 biolink:NamedThing aortic arch interruption, facial palsy, and retinal coloboma tmpaxzxjjyw_mondo_relaxed.owl aortic arch interruption, facial palsy, and retinal coloboma MESH:C566271|OMIM:107550|UMLS:C1862681 owl:Class MONDO:0007878 biolink:NamedThing congenital laryngomalacia Increased collapsibility of the larynx. tmpaxzxjjyw_mondo_relaxed.owl laryngomalacia|laryngomalacia congenital|congenital laryngeal stridor GARD:0006865|Orphanet:2373|ICD10:Q31.5|NCIT:C98971|OMIM:150280|ICD9:748.3|MESH:D055092|SCTID:253737007|MedDRA:10060786 owl:Class MONDO:0045040 biolink:NamedThing locational disease characteristic tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:47857 biolink:NamedThing ureas tmpaxzxjjyw_mondo_relaxed.owl urea derivatives owl:Class MONDO:0004225 biolink:NamedThing monoclonal gammopathy of uncertain significance A condition characterized by the presence of a monoclonal gammopathy (MG) in which the clonal mass has not reached a predefined state in which the condition is considered malignant. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. tmpaxzxjjyw_mondo_relaxed.owl monoclonal gammopathy of undetermined significance|monoclonal gammopathy of undetermined significance (MGUS)|monoclonal gammopathy, benign|benign monoclonal gammopathy|MGUS|monoclonal gammopathy of unknown significance|monoclonal gammopathy of undetermined significance (morphologic abnormality)|monoclonal gammopathy Of undetermined significance (MGUS) DOID:7442|ICD9:238.6|MESH:D008998|SCTID:58648008|EFO:1000836|SCTID:277577000|UMLS:C0026470|ICDO:9765/1|ONCOTREE:MGUS|NCIT:C3996|GARD:0007034 owl:Class MONDO:0007180 biolink:NamedThing Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities tmpaxzxjjyw_mondo_relaxed.owl iris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness|Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities|De Hauwere syndrome Orphanet:1831|OMIM:109120|MESH:C566234|UMLS:C1862373 owl:Class MONDO:0000872 biolink:NamedThing B-cell childhood acute lymphoblastic leukemia An acute B-lymphoblastic leukemia occurring in children. tmpaxzxjjyw_mondo_relaxed.owl B-cell pediatric acute lymphoid leukemia|B-cell childhood acute lymphoid leukemia|B cell pediatric acute lymphoblastic leukemia|childhood B-ALL|B-cell pediatric acute lymphogenous leukemia|B cell childhood acute lymphocytic leukemia|B cell pediatric acute lymphocytic leukemia|childhood B acute lymphoblastic leukemia|B-cell childhood ALL|B acute lymphoblastic leukemia|B-cell pediatric ALL|childhood precursor B-lymphoblastic leukemia|B-cell pediatric acute lymphocytic leukemia|B-cell pediatric acute lymphoblastic leukemia|B-cell childhood acute lymphogenous leukemia|B cell childhood ALL|B cell childhood acute lymphoblastic leukemia|B cell pediatric ALL|B-cell childhood acute lymphocytic leukemia EFO:1001946|DOID:0080146|NCIT:C9140|UMLS:C0279584 owl:Class MONDO:0017229 biolink:NamedThing distal monosomy 12p Distal monosomy 12p is a rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. tmpaxzxjjyw_mondo_relaxed.owl distal monosomy type 12p|12p13.33 microdeletion syndrome|distal deletion 12p|Del(12)(p13.33) UMLS:CN202714|ICD10:Q93.5|Orphanet:280325 owl:Class MONDO:0012601 biolink:NamedThing autism, susceptibility to, 10 tmpaxzxjjyw_mondo_relaxed.owl AUTS10|autism, susceptibility to, 10 OMIM:611016 owl:Class MONDO:0010429 biolink:NamedThing intellectual disability, X-linked 96 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the SYP gene. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic X-linked intellectual disability caused by mutation in SYP|MRX96|intellectual disability, X-linked 96|intellectual disability, X-linked type 96|SYP non-syndromic X-linked intellectual disability|mental retardation, X-linked type 96|mental retardation, X-linked 96 UMLS:C3275408|OMIM:300802 owl:Class MONDO:0013153 biolink:NamedThing inflammatory bowel disease 28 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene. tmpaxzxjjyw_mondo_relaxed.owl IBD28|inflammatory bowel disease 28|inflammatory bowel disease type 28|inflammatory bowel disease 28, autosomal recessive|early onset autosomal recessive inflammatory bowel disease 28|inflammatory bowel disease, early-onset, autosomal recessive|IL10RA inflammatory bowel disease|inflammatory bowel disease caused by mutation in IL10RA DOID:0110899|UMLS:C2751053|OMIM:613148|Orphanet:238569|MESH:C567728 owl:Class MONDO:0014573 biolink:NamedThing Cole-Carpenter syndrome 2 Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene. tmpaxzxjjyw_mondo_relaxed.owl COLE-CARPENTER syndrome 2|Cole-Carpenter syndrome type 2|SEC24D Cole-Carpenter syndrome|CLCRP2|Cole-Carpenter syndrome caused by mutation in SEC24D|Cole-Carpenter syndrome 2 UMLS:C4225382|Orphanet:2050|OMIM:616294 owl:Class UBERON:0005014 biolink:NamedThing mucosa of female urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:33340 biolink:NamedThing Neoptera tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012754 biolink:NamedThing nanophthalmos 3 tmpaxzxjjyw_mondo_relaxed.owl NNO3|Nanophthalmia 3|nanophthalmos 3 MESH:C567498|UMLS:C2678467|Orphanet:35612|OMIM:611897 owl:Class MONDO:0020217 biolink:NamedThing secondary dysgenetic glaucoma associated with neural crest cell migration anomaly tmpaxzxjjyw_mondo_relaxed.owl glaucoma associated with neural crest cell migration anomaly 2022-03-01 Orphanet:98632 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: secondary dysgenetic glaucoma' MONDO_0020216 owl:Class MONDO:0017733 biolink:NamedThing alpha-mannosidosis, adult form tmpaxzxjjyw_mondo_relaxed.owl Alpha-mannosidosis adult-onset form|lysosomal alpha-D-mannosidase deficiency, adult form ICD10:E77.1|GTR:AN0103811|Orphanet:309288|GTR:AN0103810|UMLS:CN036949 owl:Class MONDO:0020359 biolink:NamedThing congenital symblepharon tmpaxzxjjyw_mondo_relaxed.owl DOID:0111720|ICD10:Q11.2|Orphanet:98948 owl:Class HGNC:7679 biolink:NamedThing NDRG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003279 biolink:NamedThing testicular infarct Ischemic necrosis of the testis usually caused by torsion of the spermatic cord, trauma, or severe epididymo-orchitis. tmpaxzxjjyw_mondo_relaxed.owl infarction of testis|testicular infarction SCTID:33793000|NCIT:C27617|UMLS:C0392041|DOID:5104 owl:Class MONDO:0022636 biolink:NamedThing candida glabrata infection tmpaxzxjjyw_mondo_relaxed.owl Torulopsis glabrata (formerly)|candida glabrata GARD:0008171 https://rarediseases.info.nih.gov/diseases/8171/candida-glabrata owl:Class UBERON:0005623 biolink:NamedThing semi-lunar valve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012933 biolink:NamedThing breast-ovarian cancer, familial, susceptibility to, 2 Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene. tmpaxzxjjyw_mondo_relaxed.owl breast-ovarian cancer, familial, susceptibility to, type 2|breast-ovarian cancer, familial, susceptibility to, 2|BRCA2 hereditary breast ovarian cancer syndrome|susceptibility to familial breast-ovarian cancer 2|hereditary breast ovarian cancer syndrome caused by mutation in BRCA2|ovarian cancer, familial, susceptibility to, 2|BROVCA2|breast cancer, familial, susceptibility to, 2 Orphanet:227535|Orphanet:145|OMIM:612555 owl:Class MONDO:0006839 biolink:NamedThing Lutembacher syndrome A condition characterized by a combination of ostium secundum atrial septal defect and an acquired mitral valve stenosis. tmpaxzxjjyw_mondo_relaxed.owl Lutembacher's anomaly|syndrome, Lutembacher's|Lutembacher syndrome|Lutembacher's syndrome|syndrome, Lutembacher|Lutembachers syndrome SCTID:204319006|UMLS:C0024164|EFO:1001024|MESH:D008185|DOID:1998 owl:Class GO:0006586 biolink:NamedThing indolalkylamine metabolic process The chemical reactions and pathways involving indolalkylamines, indole or indole derivatives containing a primary, secondary, or tertiary amine group. tmpaxzxjjyw_mondo_relaxed.owl indolalkylamine metabolism|indolamine metabolic process|indolamine metabolism owl:Class MONDO:0002951 biolink:NamedThing skin adenoid basal cell carcinoma A variant of basal cell carcinoma morphologically characterized by the presence of thin strands of basaloid cells forming a reticulate pattern. tmpaxzxjjyw_mondo_relaxed.owl skin adenoid basal cell carcinoma|adenoid basal cell carcinoma NCIT:C27535|SCTID:402525008|DOID:4294|ICDO:8098/3 Editor note: adenoid refers to histological subtype, not tonsils owl:Class FOODON:03411261 biolink:NamedThing fungus A member of the group of eukaryotic organisms in the kingdom Fungi that includes unicellular microorganisms such as yeasts and molds, as well as multicellular fungi that produce familiar fruiting forms known as mushrooms. tmpaxzxjjyw_mondo_relaxed.owl fungi owl:Class HGNC:2230 biolink:NamedThing COPA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008274 biolink:NamedThing polyostotic fibrous dysplasia Fibrous dysplasia affecting more than one bone. When it is associated with café-au-lait skin pigmentation and endocrine disorders, it is known as McCune-Albright syndrome. tmpaxzxjjyw_mondo_relaxed.owl polyostotic fibrous dysplasia of bone|fibrous dysplasia of bone Orphanet:93276|NCIT:C34610|MedDRA:10036120|ICD9:756.54|SCTID:36517007|ICD10:Q78.1|MESH:D005359 owl:Class MONDO:0008424 biolink:NamedThing sella turcica, bridged tmpaxzxjjyw_mondo_relaxed.owl sella turcica, bridged MESH:C566689|OMIM:182200 owl:Class HGNC:6295 biolink:NamedThing KCNQ1OT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:114292 biolink:NamedThing typhus group tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0012122 biolink:NamedThing moyamoya disease 3 tmpaxzxjjyw_mondo_relaxed.owl Moyamoya disease 3|MYMY3 UMLS:C1837418|Orphanet:2573|OMIM:608796|MESH:C536993 owl:Class MONDO:0006450 biolink:NamedThing therapy-related myeloid neoplasm Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders. tmpaxzxjjyw_mondo_relaxed.owl therapy-related myeloid neoplasm|acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related|therapy-related acute myeloid leukemia and myelodysplastic syndrome|therapy-related myeloid neoplasms|therapy-related AML and MDS|TMN EFO:1000575|ICDO:9920/3|ONCOTREE:TMN|NCIT:C27912 owl:Class MONDO:0011590 biolink:NamedThing anisomastia tmpaxzxjjyw_mondo_relaxed.owl anisomastia MESH:C565299|OMIM:605746 owl:Class MONDO:0004896 biolink:NamedThing esotropia A form of strabismus in which one or both eyes are deviated medially. tmpaxzxjjyw_mondo_relaxed.owl internal strabismus|crossed eyes|convergence in manifest squint ICD9:378.0|GARD:0008235|ICD9:378.00|NCIT:C34596|UMLS:C0014877|ICD10:H50.0|MESH:D004948|ICD10:H50.00|SCTID:16596007|DOID:9840 https://rarediseases.info.nih.gov/diseases/8235/esotropia owl:Class MONDO:0000668 biolink:NamedThing autotopagnosia An agnosia that is a loss of the ability to orient parts of the body. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060138 owl:Class MONDO:0013109 biolink:NamedThing leukemia, acute lymphocytic, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl leukemia, acute lymphoblastic, susceptibility to, 2|ALL2|leukemia, acute lymphocytic, susceptibility to, 2 OMIM:613067|UMLS:C2751593|Orphanet:513 owl:Class HGNC:17928 biolink:NamedThing PSMC3IP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009798 biolink:NamedThing intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy. tmpaxzxjjyw_mondo_relaxed.owl ossified EAR cartilages with mental deficiency, muscle wasting, and BONY changes|PRIMS|primrose syndrome ICD10:Q87.8|Orphanet:3042|GARD:0004488|OMIM:259050|UMLS:C0796121|MESH:C536420|SCTID:726709001 owl:Class MONDO:0022898 biolink:NamedThing craniosynostosis intellectual disability heart defects tmpaxzxjjyw_mondo_relaxed.owl GARD:0001600 https://rarediseases.info.nih.gov/diseases/1600/craniosynostosis-mental-retardation-heart-defects owl:Class CL:1000434 biolink:NamedThing epithelial cell of external acoustic meatus An epithelial cell that is part of the external acoustic meatus. tmpaxzxjjyw_mondo_relaxed.owl FMA:70555 cell owl:Class MONDO:0011221 biolink:NamedThing Weyers ulnar ray/oligodactyly syndrome tmpaxzxjjyw_mondo_relaxed.owl Weyers ulnar ray/oligodactyly syndrome MESH:C536696|GARD:0010178|OMIM:602418|UMLS:C1865566 https://rarediseases.info.nih.gov/diseases/10178/weyers-ulnar-rayoligodactyly-syndrome owl:Class MONDO:0007446 biolink:NamedThing dermatosis papulosa nigra A benign skin condition commonly seen in dark-skinned individuals that is characterized by multiple small hyperpigmented papular lesions resembling seborrheic keratosis on the face and upper body. tmpaxzxjjyw_mondo_relaxed.owl dermatosis papulosa nigra (morphologic abnormality)|dermatosis papulosa nigra EFO:1000686|ICD9:709.8|UMLS:C0011645|ICD10:L82|MESH:C562379|DOID:4400|Wikipedia:Dermatosis_papulosa_nigra|NCIT:C2984|OMIM:125600|SCTID:254669003 owl:Class MONDO:0016199 biolink:NamedThing qualitative or quantitative defects of protein SERCA1 tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209199 owl:Class MONDO:0004941 biolink:NamedThing eosinophilia-myalgia syndrome A complex systemic syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart. Diagnostic features generally include eosinophilia, myalgia severe enough to limit usual activities of daily living, and the absence of coexisting infectious, autoimmune or other conditions that may induce eosinophilia. Biopsy of affected tissue reveals a microangiopathy associated with diffuse inflammation involving connective tissue. (From Spitzer et al., J Rheumatol Suppl 1996 Oct;46:73-9; Blackburn wd, Semin Arthritis Rheum 1997 Jun;26(6):788-93) tmpaxzxjjyw_mondo_relaxed.owl severe muscle pain and abnormally high eosinophils|eosinophilia myalgia syndrome|EMS|syndrome with inflammatory and autoimmune components that affect the skin, fascia, muscle, nerve, blood vessels, lung, and heart|L-tryptophan induced EMS ICD9:710.5|DOID:998|SCTID:95416007|GARD:0006345|EFO:1001316|MESH:D016603 https://rarediseases.info.nih.gov/diseases/6345/eosinophilia-myalgia-syndrome owl:Class MONDO:0004864 biolink:NamedThing acute allergic mucoid otitis media A blue drum syndrome caused by an allergen. tmpaxzxjjyw_mondo_relaxed.owl SCTID:8326008|ICD9:381.05|UMLS:C0155419|DOID:9735 owl:Class HGNC:9585 biolink:NamedThing PTCH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11397 biolink:NamedThing PLK4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002086 biolink:NamedThing clear cell acanthoma An acanthoma characterized by the presence of psoriasiform epidermal acanthosis and basal cells with pale cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl Degos acanthoma|pale (clear cell) acanthoma|clear cell acanthoma (morphologic abnormality) UMLS:C0333992|NCIT:C97041|MESH:D049309|SCTID:254670002|DOID:172 owl:Class MONDO:0002299 biolink:NamedThing glomangioma A morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. tmpaxzxjjyw_mondo_relaxed.owl glomangioma NCIT:C4222|DOID:2436|MESH:D005918|UMLS:C0334421|ICDO:8712/0 owl:Class MONDO:0044617 biolink:NamedThing X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:482606 owl:Class MONDO:0100401 biolink:NamedThing acute myeloid leukemia, del(5q31-q32) Any acute myeloid leukemia that has the chromosomal anomaly del(5q31-q32). (A cytogenetic abnormality that refers to deletion of chromosome bands 31-32 on the long arm of chromosome 5.) tmpaxzxjjyw_mondo_relaxed.owl AML, del(5)(q31q32)|AML, del(5)(q31-q32)|AML, del(5q31-q32)|AML, 5q31-32 Deletion NCIT:C168769 owl:Class MONDO:0030982 biolink:NamedThing sulfide quinone oxidoreductase deficiency tmpaxzxjjyw_mondo_relaxed.owl SQORD|sulfide:quinone oxidoreductase deficiency OMIM:619221 owl:Class MONDO:0006128 biolink:NamedThing central nervous system anaplastic large cell lymphoma An anaplastic large cell lymphoma that affects the brain, meninges, or spinal cord. tmpaxzxjjyw_mondo_relaxed.owl primary central nervous system anaplastic large cell lymphoma|central nervous system anaplastic large cell lymphoma|anaplastic large cell lymphoma of CNS|anaplastic large cell lymphoma of central nervous system|anaplastic large cell lymphoma of the central nervous system|anaplastic large cell lymphoma of the CNS|anaplastic central nervous system large cell lymphoma|primary CNS anaplastic large cell lymphoma|anaplastic CNS large cell lymphoma UMLS:C1335476|EFO:1000156|NCIT:C5322 owl:Class MONDO:0014892 biolink:NamedThing micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl mercer-Ba syndrome|intellectual disability, autosomal dominant 44|autosomal dominant intellectual disability 44|autosomal dominant mental retardation 44|autosomal dominant non-syndromic intellectual disability 44|MRD44|mental retardation, autosomal dominant 44|MEBAS UMLS:C4310740|DOID:0070074|Orphanet:476126|OMIM:617061 owl:Class MONDO:0014064 biolink:NamedThing mitochondrial complex III deficiency nuclear type 3 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene. tmpaxzxjjyw_mondo_relaxed.owl UQCRB mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 3|mitochondrial Complex 3 deficiency, nuclear type 3|mitochondrial complex III deficiency caused by mutation in UQCRB|MC3DN3 UMLS:C3554606|OMIM:615158|Orphanet:1460|DOID:0080112 owl:Class MONDO:0007282 biolink:NamedThing cataract 29 A cataract that has material basis in variation in the region 2pter-p24. tmpaxzxjjyw_mondo_relaxed.owl cataract type 29|cataract 29 coralliform|CTRCT29|cataract 29|cataract 29, coralliform Orphanet:91492|UMLS:C3805409|ICD10:Q12.0|OMIM:115800|DOID:0110232|Orphanet:98990 owl:Class MONDO:0032688 biolink:NamedThing polymicrogyria with or without vascular-type ehlers-danlos syndrome tmpaxzxjjyw_mondo_relaxed.owl PMGEDSV|POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME OMIM:618343 owl:Class UBERON:0004261 biolink:NamedThing lower leg blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:32952 biolink:NamedThing SNORD118 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8533 biolink:NamedThing P2RX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007586 biolink:NamedThing exostoses, multiple, type 2 This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes. tmpaxzxjjyw_mondo_relaxed.owl EXT2 Gene|EXT2 exostoses, multiple|exostoses (Multiple) 2 Gene|exostoses, multiple, type 2|exostoses, multiple caused by mutation in EXT2|Ext2|exostoses, multiple, type II GARD:0002205|OMIM:133701|Orphanet:321|NCIT:C18252|UMLS:C1851413 https://rarediseases.info.nih.gov/diseases/2205/exostoses-multiple-type-2 owl:Class MONDO:0013413 biolink:NamedThing retinitis pigmentosa 45 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene. tmpaxzxjjyw_mondo_relaxed.owl CNGB1 retinitis pigmentosa|retinitis pigmentosa type 45|retinitis pigmentosa 45|RP45|retinitis pigmentosa caused by mutation in CNGB1 DOID:0110402|UMLS:C3151066|OMIM:613767|ICD10:H35.5 owl:Class MONDO:0044787 biolink:NamedThing nasal cavity and paranasal sinus squamous cell carcinoma A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group. tmpaxzxjjyw_mondo_relaxed.owl nasal cavity and paranasal sinus squamous cell carcinoma|nasal cavity and paranasal sinus squamous cell cancer UMLS:C0280332|NCIT:C68611 Editor note: TODO add uberon term owl:Class MONDO:0030861 biolink:NamedThing osteogenesis imperfecta, type 21 tmpaxzxjjyw_mondo_relaxed.owl osteogenesis imperfecta, TYPE XXI|OI21 OMIM:619131 owl:Class MONDO:0025377 biolink:NamedThing African swine fever A sometimes fatal asfivirus infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros). tmpaxzxjjyw_mondo_relaxed.owl wart-Hog diseases|wart Hog disease|swine fever, African|wart-Hog disease UMLS:C0001752|MESH:D000357 owl:Class MONDO:0001464 biolink:NamedThing sigmoid colon cancer A malignant neoplasm involving the sigmoid colon. tmpaxzxjjyw_mondo_relaxed.owl Ca sigmoid colon|sigmoid colon cancer|malignant tumor of sigmoid colon|malignant neoplasm of sigmoid colon|malignant sigmoid colon neoplasm|cancer of sigmoid colon DOID:12192|ICD9:153.3|ICD10:C18.7|UMLS:C0153436|SCTID:363410008 owl:Class MONDO:0043069 biolink:NamedThing Zerres Rietschel Majewski syndrome tmpaxzxjjyw_mondo_relaxed.owl postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and intellectual disability|postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation MESH:C536724|UMLS:C2931301|GARD:0000338 owl:Class HGNC:33699 biolink:NamedThing KHDC3L tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044786 biolink:NamedThing solid pseudopapillary neoplasm of the pancreas A low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass. It is usually found incidentally during physical examination or it may present with abdominal discomfort and pain. It occurs predominantly in young women. Complete removal of the tumor is curative in the majority of cases. tmpaxzxjjyw_mondo_relaxed.owl Frantz tumor|solid pseudopapillary neoplasm of the pancreas|solid pseudopapillary tumor of the pancreas ONCOTREE:SPN|NCIT:C37212 owl:Class NCBITaxon:43733 biolink:NamedThing Muscomorpha tmpaxzxjjyw_mondo_relaxed.owl Asilomorpha GC_ID:1 NCBITaxon:43732 ncbi_taxonomy owl:Class MONDO:0011782 biolink:NamedThing angioid streaks Small breaks in the elastin-filled tissue of the retina. tmpaxzxjjyw_mondo_relaxed.owl angioid streaks SCTID:86103006|UMLS:C0002982|OMIM:607140|EFO:1000805|MedDRA:10066191|MESH:D000793|DOID:13401 owl:Class MONDO:0019993 biolink:NamedThing congenital renal artery stenosis A narrowing of renal arteries that is present since birth. tmpaxzxjjyw_mondo_relaxed.owl congenital RAS|congenital renovascular hypoplasia Orphanet:97598|ICD10:Q27.1|SCTID:271432005 https://github.com/monarch-initiative/mondo/issues/1741 owl:Class MONDO:0019646 biolink:NamedThing unilateral congenital megacalycosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93176|ICD10:Q63.8 owl:Class MONDO:0017251 biolink:NamedThing congenital pulmonary airway malformation type 3 tmpaxzxjjyw_mondo_relaxed.owl CCAM type 3|congenital cystic adenomatoid malformation of the lung type 3|congenital cystic disease of the lung type 3|congenital cystic adenomatous malformation of the lung type 3|CPAM type 3 Orphanet:280847|ICD10:Q33.0 owl:Class MONDO:0018860 biolink:NamedThing microlissencephaly-micromelia syndrome Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. tmpaxzxjjyw_mondo_relaxed.owl Basel-Vanagaite-Sirota syndrome UMLS:CN205181|ICD10:Q04.3|Orphanet:50810 owl:Class CL:0002209 biolink:NamedThing intermediate epitheliocyte An epithelial cell present in the trachea and bronchi; columnar in shape; generally lack cilia; immature forms of ciliated or secretory cells which have been formed from stem cells. tmpaxzxjjyw_mondo_relaxed.owl undifferentiated columnar cell of tracheobronchial tree FMA:69060 tmeehan 2010-09-02T02:53:59Z cell owl:Class MONDO:0007935 biolink:NamedThing cystoid macular edema An autosomal dominantly inherited cystoid macular edema manifesting with macular atrophy, strabismus and, sometimes, pericentral retinitis pigmentosa. It is associated with a poor visual prognosis. tmpaxzxjjyw_mondo_relaxed.owl macular edema, cystoid|Mddc|DCMD|cystoid macular dystrophy|macular dystrophy, dominant cystoid|autosomal dominant cystoid macular edema|familial macular edema ICD10:H35.5|DOID:4447|UMLS:C0024440|OMIM:153880|Orphanet:75381|UMLS:C0730317|SCTID:312921000|NCIT:C34794 owl:Class MONDO:0100080 biolink:NamedThing cardioectodermal syndrome Cardioectodermal syndromes are those in which phenotypic manifestations occur in the heart, skin, and/or hair. Variation in the genes of interest may occur in both an autosomal dominant inheritance pattern, or in an autosomal recessive inheritance pattern which may result in an earlier and/or more severe phenotypic presentation. tmpaxzxjjyw_mondo_relaxed.owl cardio-ectodermal syndrome http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0001217 biolink:NamedThing ileal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020274 biolink:NamedThing onycho-patellar syndrome with eye involvement tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98704|UMLS:CN207079 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: genodermatosis with ocular features' MONDO_0020266 owl:Class MONDO:0008101 biolink:NamedThing familial supernumerary nipples Familial supernumerary nipples is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations has been reported. tmpaxzxjjyw_mondo_relaxed.owl accessory nipples|isolated polythelia|polythelia, familial|nipples, supernumerary|polymastia Orphanet:2456|ICD10:Q83.3|OMIM:163700 owl:Class HGNC:16517 biolink:NamedThing TMPRSS6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030051 biolink:NamedThing intellectual developmental disorder with autistic features and language delay, with or without seizures tmpaxzxjjyw_mondo_relaxed.owl intellectual developmental disorder with autistic features and language delay, with or without seizures|IDDALDS|INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES OMIM:618906 owl:Class PO:0000018 biolink:NamedThing ovule primordium A floral structure primordium (PO:0025477) that is committed to the development of an ovule (PO:0020003). tmpaxzxjjyw_mondo_relaxed.owl 胚珠原基（可視的） (Japanese, exact)|portion of ovule primordium tissue (exact)|primordio de óvulo (Spanish, exact) PO_GIT:465 The transition from ovule primordium to ovule occurs when an integument (PO:0020021) begins to develop from the protoderm (PO:0006210). plant_anatomy owl:Class MONDO:8000008 biolink:NamedThing Martsolf syndrome 1 This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. tmpaxzxjjyw_mondo_relaxed.owl cataract-intellectual disability-hypogonadism|cataract-mental retardation-hypogonadism|cataract-intellectual disability-hypogonadism syndrome|Martsolf syndrome|MARTSOLF syndrome SCTID:722380003|OMIM:212720|UMLS:C0796037|Orphanet:1387|GARD:0003406|ICD10:Q87.8|MESH:C536028|DOID:0111586 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0004345 biolink:NamedThing glucose-6-phosphate dehydrogenase activity Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+. tmpaxzxjjyw_mondo_relaxed.owl D-glucose 6-phosphate dehydrogenase activity|glucose 6-phosphate dehydrogenase (NADP) activity|Entner-doudoroff enzyme|D-glucose-6-phosphate:NADP+ 1-oxidoreductase activity|glucose-6-phosphate 1-dehydrogenase activity|NADP-dependent glucose 6-phosphate dehydrogenase activity|6-phosphoglucose dehydrogenase activity|Zwischenferment|GDH|G6PD activity|G6PDH|NADP-glucose-6-phosphate dehydrogenase activity|6-phosphoglucose dehydrogenas|zwischenferment owl:Class HGNC:4266 biolink:NamedThing GHRHR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011423 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2E Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy limb-girdle with beta-sarcoglycan deficiency|autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB|limb-girdle muscular dystrophy type 2E|muscular dystrophy, limb-girdle, type 2E|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|Beta-sarcoglycan limb-girdle muscular dystrophy|beta-sarcoglycanopathy|LGMD2E|SGCB autosomal recessive limb-girdle muscular dystrophy ICD10:G71.0|Orphanet:119|OMIM:604286|SCTID:718850008|DOID:0110279|GARD:0000870|UMLS:C2930900|GARD:0003851 owl:Class FOODON:00001262 biolink:NamedThing botanical fruit food product Mature ovary of a plant, with a fleshy part of the carpel that develops with the seed to attract animals for aid in dispersal. Botanically, nuts are considered fruits. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001656 biolink:NamedThing megaesophagus An abnormal dilation of the esophagus not due to obstruction. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025164|SCTID:70667005|NCIT:C34811|DOID:13186 owl:Class HGNC:26230 biolink:NamedThing TM4SF20 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009523 biolink:NamedThing Lichtenstein syndrome Lichstenstein syndrome is characterised by frequent infections associated with osteoporosis, a tendency for fractures and osseous anomalies. It has been described in two monozygotic twin brothers. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Lichtenstein syndrome|neutropenia immunoglobulin deficiency peculiar facies and bony anomalies Orphanet:2390|OMIM:246550|SCTID:763668009|GARD:0003248|MESH:C535894|UMLS:C1855502 https://rarediseases.info.nih.gov/diseases/3248/lichtenstein-syndrome owl:Class NCBITaxon:640628 biolink:NamedThing Poinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1652081 biolink:NamedThing Poeae Chloroplast Group 2 (Poeae type) tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class GO:0009179 biolink:NamedThing purine ribonucleoside diphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside diphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with diphosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine ribonucleoside diphosphate metabolism owl:Class UBERON:0004508 biolink:NamedThing skeletal muscle tissue of levator palpebrae superioris tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5173 biolink:NamedThing HRAS tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1903055 biolink:NamedThing positive regulation of extracellular matrix organization Any process that activates or increases the frequency, rate or extent of extracellular matrix organization. tmpaxzxjjyw_mondo_relaxed.owl activation of extracellular matrix organisation|up regulation of extracellular matrix organization and biogenesis|up-regulation of extracellular matrix organization and biogenesis|upregulation of extracellular matrix organization and biogenesis|up regulation of extracellular matrix organisation|up-regulation of extracellular matrix organisation|upregulation of extracellular matrix organisation|up-regulation of extracellular matrix organization|positive regulation of extracellular matrix organization and biogenesis|activation of extracellular matrix organization|upregulation of extracellular matrix organization|positive regulation of extracellular matrix organisation|activation of extracellular matrix organization and biogenesis|up regulation of extracellular matrix organization owl:Class MONDO:0024227 biolink:NamedThing miliaria pustulosa A miliaria that is characterized by pustules resulting from inflammation and bacterial infection. tmpaxzxjjyw_mondo_relaxed.owl DOID:0070319|SCTID:26988005 owl:Class MONDO:0017334 biolink:NamedThing 12q15q21.1 microdeletion syndrome 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. tmpaxzxjjyw_mondo_relaxed.owl deletion 12q15q21.1|Del(12)(q15)(q21.1)|monosomy 12q15q21.1 UMLS:CN202984|SCTID:734030009|UMLS:C4518344|Orphanet:289513|ICD10:Q93.5 owl:Class MONDO:0013035 biolink:NamedThing orofaciodigital syndrome XI Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. tmpaxzxjjyw_mondo_relaxed.owl Gabrielli syndrome|orofaciodigital syndrome 11|Ofds 11|oral-Facial-digital syndrome, type 11|OFD11|orofaciodigital syndrome type XI|orofaciodigital syndrome XI|OFD syndrome 11|orofaciodigital syndrome, Gabrielli type|orofaciodigital syndrome type 11|oral-Facial-digital syndrome with skeletal anomalies|oral facial digital syndrome type 11|oral facial digital syndrome 11|oral-facial-digital syndrome type 11|oral-facial-digital syndrome, Gabrielli type DOID:0060381|OMIM:612913|GARD:0004118|MESH:C557821|Orphanet:141000|SCTID:718681002|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11 owl:Class MONDO:0005125 biolink:NamedThing borderline leprosy A form of leprosy in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms. tmpaxzxjjyw_mondo_relaxed.owl borderline or dimorphous leprosy|borderline leprosy [group B]|Midborderline leprosy MESH:D015439|ICD9:030.3|SCTID:400154003|ICD10:A30.3|UMLS:C0023346|DOID:1023|EFO:0001055|UMLS:C3251797 owl:Class MONDO:0003943 biolink:NamedThing central nervous system hibernoma A rare benign slow growing adipose tumor, characterized by the presence of polygonal brown fat cells with abundant cytoplasm, that arises within the nervous system. tmpaxzxjjyw_mondo_relaxed.owl hibernoma of the central nervous system|nervous system hibernoma|hibernoma of nervous system|hibernoma of central nervous system|central nervous system hibernoma NCIT:C6997|UMLS:C1708362|DOID:6607 owl:Class MONDO:0009224 biolink:NamedThing fetal iodine syndrome Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH). tmpaxzxjjyw_mondo_relaxed.owl FIDD|endemic cretinism|fetal iodine deficiency disorder OMIM:228355|SCTID:718228001|Orphanet:1910|UMLS:C4273860|ICD10:P72.2|GARD:0002304 https://rarediseases.info.nih.gov/diseases/2304/fetal-iodine-syndrome owl:Class MONDO:0013036 biolink:NamedThing Zechi-Ceide syndrome tmpaxzxjjyw_mondo_relaxed.owl occipital atretic cephalocele, unusual facies and large feet|Zechi Ceide syndrome|occipital atretic cephalocele-unusual facies-large feet syndrome|Zechi-Ceide syndrome|occipital atretic cephalocele, unusual facies, and large feet MESH:C567865|Orphanet:217017|GARD:0010582|ICD10:Q87.8|UMLS:C2752047|OMIM:612916 https://rarediseases.info.nih.gov/diseases/10582/zechi-ceide-syndrome owl:Class MONDO:0014588 biolink:NamedThing congenital myasthenic syndrome 11 Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene. tmpaxzxjjyw_mondo_relaxed.owl CMS1E|myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency|CMS11|congenital myasthenic syndrome 1e|CMS Ie|congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency|myasthenic syndrome, congenital, Ie|Cms Ie|myasthenic syndrome, congenital, Ie, formerly|Cms Ie, formerly|congenital myasthenic syndrome type 11|congenital myasthenic syndrome caused by mutation in RAPSN|RAPSN congenital myasthenic syndrome MESH:C563831|OMIM:616326|DOID:0110675|Orphanet:590 owl:Class HGNC:7455 biolink:NamedThing MT-ND1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:24316 biolink:NamedThing TACO1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022822 biolink:NamedThing congenital cardiovascular shunt tmpaxzxjjyw_mondo_relaxed.owl GARD:0006154 https://rarediseases.info.nih.gov/diseases/6154/congenital-cardiovascular-shunt owl:Class MONDO:0016039 biolink:NamedThing infantile digital fibromatosis tmpaxzxjjyw_mondo_relaxed.owl IDF|asymptomatic nodular proliferation of fibrous tissue on the dorsal and lateral aspects of the fingers or toes|inclusion body fibromatosis|Reye tumor|recurring digital fibrous tumor of childhood UMLS:C1318562|ICD10:M72.8|ICD9:238.8|GARD:0008487|Orphanet:199267|SCTID:399903008 https://rarediseases.info.nih.gov/diseases/8487/infantile-digital-fibromatosis owl:Class CL:0000526 biolink:NamedThing afferent neuron A neuron which conveys sensory information centrally from the periphery. tmpaxzxjjyw_mondo_relaxed.owl input neuron FMA:87653 cell owl:Class MONDO:0015769 biolink:NamedThing distal trisomy 6p Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. tmpaxzxjjyw_mondo_relaxed.owl distal duplication 6p|distal trisomy type 6p|telomeric duplication 6p|trisomy 6pter ICD10:Q92.3|UMLS:C4302551|SCTID:722430008|Orphanet:1745 owl:Class MONDO:0009745 biolink:NamedThing neuronal ceroid lipofuscinosis 5 Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpaxzxjjyw_mondo_relaxed.owl neuronal ceroid lipofuscinosis type 5|ceroid lipofuscinosis, neuronal, 5|CLN5 disease, late infantile (subtype)|CLN5|neuronal ceroid lipofuscinosis 5 variable age of onset|neuronal ceroid lipofuscinosis, late infantile, Finnish variant|ceroid lipofuscinosis, neuronal, 5, variable Age at onset|ceroid lipofuscinosis, neuronal, type 5|neuronal ceroid lipofuscinosis Finnish variant|CLN5 disease, juvenile|CLN5 disease|CLN5 disease, adult|neuronal ceroid lipofuscinosis caused by mutation in CLN5|CLN5 neuronal ceroid lipofuscinosis|Finnish Vlincl Orphanet:228360|ICD10:E75.4|MESH:C575534|Orphanet:168491|GARD:0001223|OMIM:256731|DOID:0110728 https://rarediseases.info.nih.gov/diseases/1223/neuronal-ceroid-lipofuscinosis-5 owl:Class NCBITaxon:43913 biolink:NamedThing Chrysomyinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7371 biolink:NamedThing Calliphoridae tmpaxzxjjyw_mondo_relaxed.owl blow-fly|bottle flies|blow flies|blowflly|blow flly|blowflies GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002755 biolink:NamedThing solitary osseous plasmacytoma A localized, clonal (malignant) plasma cell infiltrate in the bone, without peripheral blood involvement. The most commonly affected bones are the vertebrae, ribs, skull, pelvis and femur. X-rays examination reveals a solitary lytic lesion. tmpaxzxjjyw_mondo_relaxed.owl isolated osseous plasmacytoma|isolated plasmacytoma of bone|SPB|solitary plasmacytoma of bone ONCOTREE:SPB|NCIT:C7812|SCTID:426336007|DOID:3722|UMLS:C0272256|ICD9:238.6 owl:Class HP:0025580 biolink:NamedThing Abnormal right atrium morphology Any structural abnormality of the right atrium. tmpaxzxjjyw_mondo_relaxed.owl 2017-12-15 23:56:01+00:00 Fyler:1770 HPO:probinson human_phenotype owl:Class HP:0005120 biolink:NamedThing Abnormal cardiac atrium morphology Any structural abnormality of a cardiac atrium. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of cardiac atrium morphology|Abnormality of heart atrium UMLS:C4025246 peter 2008-03-26T04:12:00Z human_phenotype owl:Class MONDO:0000781 biolink:NamedThing cherry allergy A fruit allergy triggered by Prunus avium plant fruit food product. tmpaxzxjjyw_mondo_relaxed.owl Prunus avium fruit allergy DOID:0060506 owl:Class HP:0033127 biolink:NamedThing Abnormality of the musculoskeletal system An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. tmpaxzxjjyw_mondo_relaxed.owl 2020-09-05 13:35:03+00:00 peter human_phenotype owl:Class MONDO:0100385 biolink:NamedThing acute myeloid leukemia, t(11;19)(q23.3;p13.3) Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23.3;p13.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23.3) of chromosome 11 and the short arm (p13.3) of chromosome 19. It is associated with KMT2A (MLL)/MLLT1 (ENL) fusions and acute myeloid leukemia.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(11;19)(q23.3;p13.3)|AML, t(11;19)(q23;p13.3) NCIT:C36372 owl:Class HGNC:2033 biolink:NamedThing CLDN10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007998 biolink:NamedThing microspherophakia-metaphyseal dysplasia syndrome Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects. tmpaxzxjjyw_mondo_relaxed.owl Verloes-Van Maldergem-de Marneffe syndrome|dominantly inherited bone dysplasia with severe eye involvement|Verloes Van Maldergem Marneffe syndrome|microspherophakia-metaphyseal dysplasia UMLS:C1834880|Orphanet:2551|ICD10:Q87.5|MESH:C536540|GARD:0005481|OMIM:157151 owl:Class MONDO:0018252 biolink:NamedThing focal palmoplantar keratoderma with joint keratoses tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204827|ICD10:Q82.8|OMIM:148700|Orphanet:370002 owl:Class MONDO:0020503 biolink:NamedThing resistance to thyrotropin-releasing hormone syndrome Resistance to thyrotropin-releasing hormone (TRH) syndrome is a type of central congenital hypothyroidism characterized by low levels of thyroid hormones due to insufficient release of thyroid-stimulating hormone (TSH) caused by pituitary resistance to TRH. It may or may not be observed from birth. tmpaxzxjjyw_mondo_relaxed.owl central hypothyroidism due to TRH receptor deficiency|TRH resistance syndrome SCTID:725462002|Orphanet:99832|UMLS:CN207394|ICD10:E03.1 owl:Class MONDO:0032739 biolink:NamedThing spermatogenic failure 36 tmpaxzxjjyw_mondo_relaxed.owl SPGF36|SPERMATOGENIC FAILURE 36 OMIM:618420 owl:Class HP:0001482 biolink:NamedThing Subcutaneous nodule Slightly elevated lesions on or in the skin with a diameter of over 5 mm. tmpaxzxjjyw_mondo_relaxed.owl Nodule below the skin|Subcutaneous nodules|Multiple, subcutaneous nodules|Growth of abnormal tissue under the skin|Firm lump under the skin UMLS:C0746926|SNOMEDCT_US:95325000|UMLS:C0151811 Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. HP:0005903 human_phenotype owl:Class MONDO:0009460 biolink:NamedThing indolylacroyl glycinuria with intellectual disability tmpaxzxjjyw_mondo_relaxed.owl indolylacroyl glycinuria with intellectual disability|indolylacroyl glycinuria with mental retardation OMIM:243050|MESH:C565466|UMLS:C1855738 owl:Class MONDO:0010791 biolink:NamedThing myoglobinuria, recurrent An inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. The exact prevalence remains unknown. In the majority of cases, the disease manifests in childhood and is often triggered by exertion or infection (febrile illness). Hypertonia, muscle stiffness and muscle pain, impaired kidney function and elevated levels of serum creatine kinase are common clinical features. Mutations in the mitochondrial DNA-encoded cytochrome C oxidase genes (MT-CO1 and MT-CO2) should be considered in patients with recurrent myoglobinuria. Recently, mutations in the LPIN1 gene (chromosome 2p21) have been reported to have a causative role in three patients with recurrent episodes of myoglobinuria, originating from consanguineous families. The disorder may occur sporadically, or be inherited in either a recessive or dominant manner. tmpaxzxjjyw_mondo_relaxed.owl myoglobinuria, recurrent|myoglobinuria recurrent Orphanet:99845|OMIM:550500|GARD:0003879|MESH:C564018 https://rarediseases.info.nih.gov/diseases/3879/myoglobinuria-recurrent owl:Class MONDO:0020504 biolink:NamedThing genetic recurrent myoglobinuria Genetic recurrent myoglobinuria is an inborn error of metabolism characterized by abnormal urinary excretion of myoglobin due to acute destruction of skeletal muscle fibers. tmpaxzxjjyw_mondo_relaxed.owl ICD10:R82.1|OMIM:268200|SCTID:716721003|Orphanet:99845|OMIM:550500 owl:Class MONDO:0018577 biolink:NamedThing pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa tmpaxzxjjyw_mondo_relaxed.owl PXE-like syndrome with retinitis pigmentosa Orphanet:436274|UMLS:CN237597|ICD10:Q82.8 owl:Class MONDO:0000783 biolink:NamedThing orange allergy A fruit allergy triggered by Citrus sinensis plant fruit food product. tmpaxzxjjyw_mondo_relaxed.owl orange allergy|Citrus sinensis fruit allergy DOID:0060508 owl:Class MONDO:0009485 biolink:NamedThing oculocerebrofacial syndrome, Kaufman type tmpaxzxjjyw_mondo_relaxed.owl kos|severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet|blepharophimosis-ptosis-intellectual disability syndrome|oculocerebrofacial syndrome, Kaufman type|KOS|Kaufman oculocerebrofacial syndrome|severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet|BPIDS ICD10:Q87.0|OMIM:244450|Orphanet:2707|MESH:C537013|SCTID:722056009|UMLS:C1855663|GARD:0003084|DOID:0111456 owl:Class MONDO:0044788 biolink:NamedThing perihilar intrahepatic cholangiocarcinoma An intrahepatic cholangiocarcinoma that arises from the intrahepatic large bile ducts. tmpaxzxjjyw_mondo_relaxed.owl perihilar intrahepatic cholangiocarcinoma|perihilar cholangiocarcinoma|perihilar ICC|perihilar bile duct carcinoma ONCOTREE:PHCH|NCIT:C96804 owl:Class MONDO:0003888 biolink:NamedThing childhood testicular mixed embryonal carcinoma and teratoma A malignant testicular mixed germ cell neoplasm that occurs during childhood. It is characterized by the presence of embryonal carcinoma and teratoma components. tmpaxzxjjyw_mondo_relaxed.owl childhood teratocarcinoma of the testis|childhood teratocarcinoma of testis|childhood testicular teratocarcinoma|childhood testicular mixed embryonal carcinoma and teratoma|pediatric testicular teratocarcinoma NCIT:C6539|UMLS:C1333008|DOID:6474 owl:Class MONDO:0017616 biolink:NamedThing X-linked intellectual disability, Schutz type tmpaxzxjjyw_mondo_relaxed.owl Orphanet:3062|ICD10:Q87.8 owl:Class UBERON:0011858 biolink:NamedThing acinus of exocrine gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0008008 biolink:NamedThing striated visceral muscle cell A visceral muscle cell that is striated. Examples include the visceral muscle cells of arhtropods. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012151 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl attention deficit-hyperactivity disorder, susceptibility to, 3|attention Deficit-hyperactivity disorder, susceptibility to, type 3|Adhd3 OMIM:608905 owl:Class UBERON:0004945 biolink:NamedThing submucosa of neck of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004943 biolink:NamedThing submucosa of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003692 biolink:NamedThing adult malignant mesenchymoma A malignant mesenchymoma occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl malignant mesenchymoma of adults|adult malignant mesenchymoma|malignant mesenchymoma DOID:5894|NCIT:C7947|UMLS:C0279548 owl:Class MONDO:0004321 biolink:NamedThing endometrial mixed adenocarcinoma An adenocarcinoma that arises from the endometrium and is characterized by the presence of both type I and type II endometrial adenocarcinoma components. The minor component constitutes at least 5% of the entire tumor. tmpaxzxjjyw_mondo_relaxed.owl endometrial mixed adenocarcinoma NCIT:C40153|DOID:7664|UMLS:C1516856 owl:Class UBERON:0007386 biolink:NamedThing pelvic appendage lymph vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:28423 biolink:NamedThing STAC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008035 biolink:NamedThing muscular hypoplasia, congenital universal, of Krabbe tmpaxzxjjyw_mondo_relaxed.owl muscular hypoplasia, congenital universal, of Krabbe UMLS:C1834651|MESH:C563553|OMIM:159100 owl:Class MONDO:0013725 biolink:NamedThing colorectal cancer, hereditary nonpolyposis, type 7 Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene. tmpaxzxjjyw_mondo_relaxed.owl HNPCC7|hereditary nonpolyposis colon cancer caused by mutation in MLH3|colorectal cancer, hereditary nonpolyposis, type 7|MLH3 hereditary nonpolyposis colon cancer OMIM:614385|Orphanet:144|DOID:0070276|MESH:C565777|UMLS:C1858380 owl:Class NCBITaxon:1884633 biolink:NamedThing Cryptococcaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018166 biolink:NamedThing oral submucous fibrosis Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment. tmpaxzxjjyw_mondo_relaxed.owl OSMF|oral submucosal fibrosis|oral submucosal fibrosis, including of tongue|oral cavity submucous fibrosis Orphanet:357154|UMLS:C0029172|EFO:1001818|MESH:D009914|NCIT:C34866|ICD9:528.8|UMLS:C0029171|SCTID:32883009|DOID:5773|ICD10:K13.5|GARD:0007264 https://rarediseases.info.nih.gov/diseases/7264/oral-submucous-fibrosis owl:Class MONDO:0003929 biolink:NamedThing vestibular micropapillomatosis A benign neoplastic process characterized by the presence of multiple vestibular papillomas in the vulva. tmpaxzxjjyw_mondo_relaxed.owl micropapillomatosis labialis|vestibular micropapillomatosis UMLS:C1519982|DOID:6569|NCIT:C40290 owl:Class MONDO:0009473 biolink:NamedThing isotretinoin-like syndrome Isotretinoin-like syndrome is a phenocopy of the isotretinoin embryopathy. tmpaxzxjjyw_mondo_relaxed.owl Isotretinoin embryopathy like syndrome|microtia aortic arch syndrome|Kawashima syndrome|microtia-aortic Arch syndrome|syndrome of microtia and aortic arch anomalies|ISOTRETINOIN embryopathy-like syndrome|microtia-aortic arch syndrome Orphanet:2306|SCTID:722006004|OMIM:243440|MESH:C535542|GARD:0009675|ICD10:Q87.8 owl:Class MONDO:0010750 biolink:NamedThing ulnar hypoplasia-split foot syndrome Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded. tmpaxzxjjyw_mondo_relaxed.owl Van De Berghe Dequeker syndrome|familial ulnar aplasia and lobster claw syndrome|severe ulnar aplasia and lobster claw feet|Van den Berghe-Dequecker syndrome|complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet|ulnar hypoplasia-lobster-claw deformity of feet syndrome|ulnar hypoplasia lobster claw deformity of feet|ulnar hypoplasia with lobster-claw deformity of feet OMIM:314360|ICD10:Q73.8|MESH:C536936|GARD:0005400|UMLS:C1839123|Orphanet:1122 owl:Class ENVO:09000006 biolink:NamedThing amount of carbon atom in water The amount of a carbon atom when measured in water. tmpaxzxjjyw_mondo_relaxed.owl water carbon atom amount owl:Class MONDO:0010458 biolink:NamedThing hypospadias 4, X-linked tmpaxzxjjyw_mondo_relaxed.owl HYSP4|hypospadias 4, X-linked, susceptibility to Orphanet:440|OMIM:300856 owl:Class MONDO:0000222 biolink:NamedThing seminal vesicle acute gonorrhea Acute form of gonococcal seminal vesiculitis. tmpaxzxjjyw_mondo_relaxed.owl acute gonococcal seminal vesiculitis|gonococcal seminal vesiculitis, acute UMLS:C0153194|UMLS:C0578661|DOID:0050004|SCTID:65049003|SCTID:301990003 owl:Class MONDO:0001721 biolink:NamedThing urethral intrinsic sphincter deficiency tmpaxzxjjyw_mondo_relaxed.owl intrinsic (urethral) sphincter deficiency [ISD] ICD10:N36.42|ICD9:599.82|DOID:13461|UMLS:C0375381 owl:Class HGNC:10484 biolink:NamedThing RYR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014327 biolink:NamedThing palmoplantar keratoderma, nonepidermolytic, focal or diffuse tmpaxzxjjyw_mondo_relaxed.owl PPKNEFD|autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering|palmoplantar keratoderma, nonepidermolytic, focal or diffuse UMLS:C3810394|OMIM:615735|Orphanet:402003|ICD10:Q82.8 https://github.com/monarch-initiative/mondo/issues/3108 owl:Class NCBITaxon:6258 biolink:NamedThing Baylisascaris tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008640 biolink:NamedThing vasculitis, lymphocytic, nodular Lymphocytic vasculitis is one of several skin conditions which are collectively referred to as cutaneous vasculitis. In lymphocytic vasculitis, white blood cells (lymphocytes) cause damage to blood vessels in the skin. This condition is thought to be caused by a number of factors, but the exact cause of most cases is not known. This disease can present with a variety of symptoms, depending on the size, location, and severity of the affected area. In a minority of patients, cutaneous vasculitis can be part of a more severe vasculitis affecting other organs in the body - this is known as systemic vasculitis. tmpaxzxjjyw_mondo_relaxed.owl vasculitis lymphocytic, nodular|lymphocytic vasculitis|vasculitis, lymphocytic, nodular MESH:C566008|OMIM:192310|GARD:0006941|UMLS:C1860519 https://rarediseases.info.nih.gov/diseases/6941/lymphocytic-vasculitis owl:Class MONDO:0017963 biolink:NamedThing 46,XX disorder of sex development induced by endogenous maternal-derived androgen tmpaxzxjjyw_mondo_relaxed.owl 46,XX DSD induced by endogenous maternal-derived androgen UMLS:CN227227|Orphanet:325093|ICD10:Q56.2 owl:Class MONDO:0020422 biolink:NamedThing aortopulmonary coronary arterial course Aortopulmonary coronary arterial course is a rare coronary artery congenital malformation characterized by anomalous origin of the coronary artery from the contralateral sinus of Valsalva with course between the aorta and the pulmonary artery. The anomaly is associated with increased risk of sudden cardiac death, especially during exercise. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q24.5|Orphanet:99086 owl:Class UBERON:0006861 biolink:NamedThing diaphysis proper tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000686 biolink:NamedThing alexia without agraphia Loss of the power to comprehend written materials despite preservation of the ability to write (i.e., alexia without agraphia). This condition is generally attributed to lesions that 'disconnect' the visual cortex of the non-dominant hemisphere from language centers in the dominant hemisphere. This may occur when a dominant visual cortex injury is combined with underlying white matter lesions that involve crossing fibers from the occipital lobe of the opposite hemisphere. (From Adams et al., Principles of Neurology, 6th ed, p483) tmpaxzxjjyw_mondo_relaxed.owl alexias, Pure|Pure Word Blindnesses|alexia syndrome without agraphia|visual verbal agnosia|agnosia, visual verbal|Agnosias, visual verbal|Pure Word blindness|without Agraphias, alexia|verbal Agnosias, visual|Agraphias, alexia without|Pure alexia without agraphia|alexia without agraphia|Pure alexia|Word Blindnesses, Pure|without agraphia, alexia|Blindnesses, Pure Word|blindness, Pure Word|alexia without Agraphias|visual verbal Agnosias|agraphia, alexia without|verbal agnosia, visual|Pure alexias|Word blindness, Pure DOID:0060156|MESH:D020237 owl:Class HP:0000517 biolink:NamedThing Abnormality of the lens An abnormality of the lens. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the lens|Lens disease|Lens issue MSH:D007905|SNOMEDCT_US:10810001|UMLS:C0549651|UMLS:C0023308 human_phenotype owl:Class MONDO:0015521 biolink:NamedThing juvenile or adult CACH syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:157719|OMIM:603896|UMLS:CN199660|ICD10:E75.2 owl:Class HGNC:7464 biolink:NamedThing MTNR1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000144 biolink:NamedThing Decreased fertility tmpaxzxjjyw_mondo_relaxed.owl Decreased fertility|Abnormal fertility UMLS:C0520927|SNOMEDCT_US:17276009 human_phenotype owl:Class HGNC:4598 biolink:NamedThing GRM6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054665 biolink:NamedThing pituitary adenoma 3, multiple types tmpaxzxjjyw_mondo_relaxed.owl pituitary adenoma 3, multiple types|PITA3 OMIM:617686|UMLS:C4540135 owl:Class UBERON:0018243 biolink:NamedThing thymic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012631 biolink:NamedThing Alzheimer disease 14 An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer's disease type 14|Alzheimer's disease 14|AD14|Alzheimer disease 14 OMIM:611154|DOID:0110047|MESH:C566999|ICD10:G30|UMLS:C1970144 owl:Class MONDO:0008403 biolink:NamedThing scalp defects-postaxial polydactyly syndrome Scalp defects-postaxial polydactyly syndrome is characterised by congenital scalp defects and postaxial polydactyly type A. tmpaxzxjjyw_mondo_relaxed.owl congenital scalp defects associated with postaxial polydactyly|scalp defects postaxial polydactyly|scalp defects and postaxial polydactyly OMIM:181250|ICD10:Q87.2|UMLS:C1867021|GARD:0000241|Orphanet:1003|MESH:C536622 owl:Class MONDO:0017434 biolink:NamedThing syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:294959|UMLS:CN203181 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class UBERON:8400023 biolink:NamedThing liver subserosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004208 biolink:NamedThing nephrogenic mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013520 biolink:NamedThing dyskeratosis congenita, autosomal recessive 3 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of WRAP53 on chromosome 17p13.1. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive dyskeratosis congenita 3|DKCB3|dyskeratosis congenita, autosomal recessive 3|dyskeratosis congenita, autosomal recessive type 3 DOID:0070019|UMLS:C3151442|Orphanet:1775|OMIM:613988 owl:Class MONDO:0016786 biolink:NamedThing partial hydatidiform mole Partial hydatiform mole is a type of hydatiform mole characterized by abnormal hyperplastic trophoblasts and hydropic villi due to fertilization of a normal ovocyte by two spermatozoa or one abnormal spermatozoon (allowing for some fetal development), and that manifests with vaginal bleeding accompanied by nausea and frequent vomiting, hyperemesis gravidarum, hyperthyroidism and risk of spontaneous miscarriage. tmpaxzxjjyw_mondo_relaxed.owl partial molar pregnancy|incomplete hydatid Mole|PHM|partial Mole|incomplete molar pregnancy|partial hydatid Mole|incomplete hydatidiform mole ONCOTREE:PHM|ICD10:O01.1|ICDO:9103/0|SCTID:237250000|NCIT:C4293|Orphanet:254693|UMLS:C0334529 owl:Class HP:0025142 biolink:NamedThing Constitutional symptom A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. tmpaxzxjjyw_mondo_relaxed.owl 2016-11-29 11:02:54+00:00 Note that we use the preferred term label constitutional symptom because this reflects common usage, but we do not restrict the term or its descendents to the narrow meaning of symptom, i.e., a complaint related by a patient to a physician. There is no generally accepted classification of what defines a constitutional symptom, but examples include weight loss, fatigue, general weakness, night sweats, shaking, chills, fever, and vomiting. HPO:probinson human_phenotype owl:Class MONDO:0016029 biolink:NamedThing esthesioneuroblastoma Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. With early treatment and in the absence of distant metastases, ENB appears to have a good prognosis (compared to other superior nasal malignancies), despite a high rate of cervical metastases. tmpaxzxjjyw_mondo_relaxed.owl olfactory neuroblastoma Orphanet:1957|GARD:0002197|ICD10:C30.0|SCTID:422886007 owl:Class MONDO:0024537 biolink:NamedThing Brown-Vialetto-van Laere syndrome 1 Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene. tmpaxzxjjyw_mondo_relaxed.owl pontobulbar palsy with deafness|bulbar palsy, progressive, with sensorineural deafness|SLC52A3 Brown-Vialetto-van Laere syndrome|Brown-Vialetto-Van Laere syndrome 1|Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3|BVVLS1|Brown-Vialetto-van Laere syndrome 1 Orphanet:97229|UMLS:CN029849|NCIT:C133724|OMIM:211530 owl:Class MONDO:0010600 biolink:NamedThing granulomatous disease, chronic, X-linked tmpaxzxjjyw_mondo_relaxed.owl granulomatous disease, chronic, autosomal dominant type|cytochrome B-negative granulomatous disease, chronic, X-linked|granulomatous disease, chronic, X-linked|cytochrome B-positive granulomatous disease, chronic, X-linked|granulomatous disease, chronic, X-linked, variant|chronic granulomatous disease, X-linked|chronic granulomatous disease, atypical|CGD|CDGX UMLS:C1841825|DOID:0070195|DOID:0070190|OMIM:306400|MESH:C564210|Orphanet:379|OMIM:138990 owl:Class HP:0001732 biolink:NamedThing Abnormality of the pancreas An abnormality of the pancreas. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the pancreas|Pancreatic disease MSH:D010182|UMLS:C4025751|UMLS:C0030286|SNOMEDCT_US:3855007 human_phenotype owl:Class MONDO:0006619 biolink:NamedThing viral exanthem A virus-induced exanthem tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153062|ICD9:057.9|DOID:8672|EFO:1000776|SCTID:49882001|ICD9:057.8 owl:Class HGNC:6342 biolink:NamedThing KIT tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:431037 biolink:NamedThing unclassified Roseolovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004973 biolink:NamedThing adenosquamous lung carcinoma An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells. tmpaxzxjjyw_mondo_relaxed.owl adenosquamous cell lung carcinoma|lung adenosquamous carcinoma|adenosquamous lung cancer|adenosquamous lung carcinoma NCIT:C9133|EFO:0000233|UMLS:C0279557|SCTID:707405009|ICD9:162.9|ONCOTREE:LUAS|DOID:4829 owl:Class MONDO:0056806 biolink:NamedThing non-small cell squamous lung carcinoma A squamous cell carcinoma that arises from the lung. It is characterized by the presence of large malignant cells. It includes the clear cell and papillary variants of squamous cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl non-small cell squamous lung carcinoma|squamous non-small cell lung carcinoma|non-small cell squamous lung cancer SCTID:723301009|DOID:0080521|NCIT:C133254 owl:Class MONDO:0013733 biolink:NamedThing accelerated tumor formation, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl accelerated tumor formation, susceptibility to|ACTFS OMIM:614401 owl:Class MONDO:0019533 biolink:NamedThing paroxysmal cold hemoglobinuria Paroxysmal cold hemoglobinuria (PCH) is a very rare subtype of autoimmune hemolytic anemia (AIHA), caused by the presence of cold-reacting autoantibodies in the blood and characterized by the sudden presence of hemoglobinuria, typically after exposure to cold temperatures. tmpaxzxjjyw_mondo_relaxed.owl Donath-Landsteiner hemolytic anemia|hemoglobinuria paroxysmal cold|Donath-Landsteiner syndrome|PCH GARD:0007335|Orphanet:90035|SCTID:127057004|ICD10:D59.6 owl:Class MONDO:0001751 biolink:NamedThing cholestasis Impairment of the bile flow caused by obstruction within the liver, or outside the liver in the bile duct system. tmpaxzxjjyw_mondo_relaxed.owl obstruction of bile duct|bile occlusion ICD9:576.2|SCTID:30144000|ICD10:K83.1|MESH:D002779|NCIT:C83006|DOID:13580|UMLS:C0008370 owl:Class ENVO:01000543 biolink:NamedThing atmospheric layer A layer that is part of the atmosphere. tmpaxzxjjyw_mondo_relaxed.owl atmospheric layering owl:Class MONDO:0008179 biolink:NamedThing paroxysmal extreme pain disorder Paroxysmal extreme pain disorder is a rare disorder of abnormal pain sensation. tmpaxzxjjyw_mondo_relaxed.owl familial rectal pain|familial rectal syndrome|submandibular, ocular, and rectal pain with flushing|pain, submandibular, ocular, and rectal, with flushing|Pexpd|paroxysmal extreme pain disorder|rectal pain, familial|PEPD SCTID:699190008|OMIM:167400|MESH:C563475|Orphanet:46348|GARD:0012854|UMLS:C1833661|NCIT:C125385|DOID:0111537|ICD9:349.89 https://rarediseases.info.nih.gov/diseases/12854/paroxysmal-extreme-pain-disorder owl:Class GO:0042073 biolink:NamedThing intraciliary transport The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. tmpaxzxjjyw_mondo_relaxed.owl intraflagellar transport involved in microtubule-based flagellum organisation|intraflagellar transport|intraflagellar transport involved in cilium organization|IFT owl:Class MONDO:0018744 biolink:NamedThing oligodendroglial tumor Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas). tmpaxzxjjyw_mondo_relaxed.owl oligodendroglial neoplasm|oligodendroglial tumor UMLS:CN205116|Orphanet:46484|UMLS:C1335110|NCIT:C6960 owl:Class MONDO:0044717 biolink:NamedThing 4q25 proximal deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl proximal monosomy 4q25|proximal del(4)(q25) Orphanet:502437 owl:Class MONDO:0016903 biolink:NamedThing partial deletion of the long arm of chromosome 4 Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion includedistinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affectedpeople can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl 4q monosomy|partial monosomy 4q|partial deletion of the long arm of chromosome type 4|chromosome 4q deletion|partial monosomy of chromosome 4q|monosomy 4q|partial monosomy of the long arm of chromosome 4|deletion 4q|partial deletion of chromosome 4q|4q deletion ICD10:Q93.5|GARD:0001340|MESH:C537639|Orphanet:262029 owl:Class MONDO:0024953 biolink:NamedThing lameness, non-human animal A departure from the normal gait in animals. tmpaxzxjjyw_mondo_relaxed.owl animal lameness|animal Gait disorder|Gait disorder, animal|animal Lamenesses|Lamenesses, animal|animal Gait disorders|disorder, animal Gait|Gait disorders, animal|disorders, animal Gait MESH:D007794 owl:Class NCBITaxon:2049 biolink:NamedThing Actinomycetaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:19244447|PMID:30186281|PMID:16558803 ncbi_taxonomy owl:Class MONDO:0001860 biolink:NamedThing folic acid deficiency anemia tmpaxzxjjyw_mondo_relaxed.owl folate deficiency anemia|folate-deficiency anemia|folate-deficient megaloblastic anaemia DOID:14026|ICD9:281.2|SCTID:85649008|ICD10:D52|UMLS:C0151482|ICD10:D52.9 owl:Class MONDO:0008544 biolink:NamedThing tetramelic monodactyly Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. tmpaxzxjjyw_mondo_relaxed.owl Sommer-Hines syndrome|tetramelic monodactyly with autosomal dominant inheritance|tetramelic monodactyly|Sommer Hines syndrome GARD:0003707|ICD10:Q73.8|Orphanet:2564|MESH:C566066|OMIM:187510|UMLS:C1861233 https://rarediseases.info.nih.gov/diseases/3707/tetramelic-monodactyly owl:Class GO:0007113 biolink:NamedThing endomitotic cell cycle A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. tmpaxzxjjyw_mondo_relaxed.owl endomitosis owl:Class MONDO:0100389 biolink:NamedThing acute myeloid leukemia, Trisomy 8 Any acute myeloid leukemia that has the chromosomal anomaly Trisomy 8. (A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.) tmpaxzxjjyw_mondo_relaxed.owl AML, Trisomy 8|AML, tri8 NCIT:C36396|NCIT:C162775 owl:Class MONDO:0014182 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 88 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive deafness 88|deafness, autosomal recessive 88|deafness, autosomal recessive type 88|autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3|autosomal recessive nonsyndromic deafness type 88|autosomal recessive nonsyndromic deafness 88|ELMOD3 autosomal recessive nonsyndromic deafness|DFNB88 UMLS:C2829267|ICD10:H90.3|DOID:0110533|OMIM:615429 owl:Class MONDO:0016217 biolink:NamedThing mal de Debarquement Mal de debarquement (MdD) is a rare otorhinolaryngological disease characterized by a persistent sensation of motion such as rocking, swaying, tumbling and/or bobbing following a period of exposure to passive movement, usually an ocean cruise or other types of water, train, automobile or air travel and less commonly other movements (like sleeping on a waterbed). Onset may be spontaneous in some patients. Manifestations begin shortly after the stimulus, persist for 6 months to years and may be associated with anxiety, fatigue and impaired cognition. Symptoms are often accentuated when in an enclosed space or when attempting to be motionless (sitting, lying down or standing in a stationary position) and are relieved when in passive motion such as in a moving car, airplane or train. tmpaxzxjjyw_mondo_relaxed.owl MDD|disembarkment syndrome|Mal de débarquement|Mal de debarquement syndrome|MdDS|sickness of disembarkment UMLS:C1608983|GARD:0006959|Orphanet:210272|MedDRA:10064924|SCTID:446079007|ICD10:H81.8 owl:Class MONDO:0004741 biolink:NamedThing tyrosinemia An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. tmpaxzxjjyw_mondo_relaxed.owl MESH:D020176|SCTID:190694001|OMIMPS:276700|ICD10:E70.21|UMLS:C0268483|ICD9:270.2|NCIT:C98640|DOID:9275 owl:Class MONDO:0032775 biolink:NamedThing neurodevelopmental disorder with seizures and speech and walking impairment tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT|NEDSSWI OMIM:618480 owl:Class MONDO:0013289 biolink:NamedThing agammaglobulinemia 4, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the BLNK gene. tmpaxzxjjyw_mondo_relaxed.owl AGM4|BLNK autosomal agammaglobulinemia|autosomal agammaglobulinemia caused by mutation in BLNK|agammaglobulinemia, autosomal recessive, due to Blnk defect|agammaglobulinemia 4, autosomal recessive UMLS:C3150752|Orphanet:33110|OMIM:613502|Orphanet:229717 owl:Class HGNC:24323 biolink:NamedThing CARTPT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009076 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 1A An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction. tmpaxzxjjyw_mondo_relaxed.owl deafness, digenic, GJB2/GJB6|connexin 26 deafness|DFNB1A|deafness, autosomal recessive 1A|GJB2-related deafness|DFNB1|autosomal recessive nonsyndromic deafness 1A|deafness, autosomal recessive type 1A|autosomal recessive nonsyndromic deafness type 1A|deafness, digenic, GJB2/GJB3|deafness nonsyndromic, connexin 26 linked|autosomal recessive deafness 1A DOID:0110475|NCIT:C129022|GARD:0001697|MESH:C567134|OMIM:220290|ICD10:H90.3 https://rarediseases.info.nih.gov/diseases/1697/dfnb1 owl:Class NCBITaxon:157540 biolink:NamedThing Zygodontomys tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012247 biolink:NamedThing spinocerebellar ataxia type 27 Spinocerebellar ataxia type 27 (SCA27) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly progressive cerebellar ataxia. tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia autosomal dominant FGF14-related|SCA27|cerebellar ataxia, autosomal dominant, Fgf14-related|spinocerebellar ataxia 27|spinocerebellar ataxia type 27 ICD10:G11.8|Orphanet:98764|UMLS:C4304846|DOID:0050976|GARD:0009963|SCTID:719252002|UMLS:C1836383|OMIM:609307|MESH:C537204 owl:Class MONDO:0043589 biolink:NamedThing femoral neck fracture Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES. tmpaxzxjjyw_mondo_relaxed.owl bone fracture of neck of femur|neck of femur bone fracture|nof - fracture of neck of femur|femoral neck fracture|femur neck fractures|femur neck fracture|fracture of hip|fracture of neck of femur EFO:1001792|MESH:D005265|SCTID:5913000 owl:Class MONDO:0003905 biolink:NamedThing ovarian yolk sac tumor, glandular pattern A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures. tmpaxzxjjyw_mondo_relaxed.owl glandular pattern ovarian yolk sac tumor|ovarian yolk Sac tumor, glandular pattern NCIT:C39988|DOID:6511|UMLS:C1518747 owl:Class GO:0002286 biolink:NamedThing T cell activation involved in immune response The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific, leading to the initiation or perpetuation of an immune response. tmpaxzxjjyw_mondo_relaxed.owl T-lymphocyte activation during immune response|T lymphocyte activation during immune response|T-cell activation during immune response|T cell activation during immune response owl:Class NCBITaxon:40005 biolink:NamedThing Yellow fever virus group tmpaxzxjjyw_mondo_relaxed.owl Yellow fever viruses GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:7198 biolink:NamedThing Phlebotominae tmpaxzxjjyw_mondo_relaxed.owl sand flies|sandflies PMID:9835021|GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5600 biolink:NamedThing Phialophora tmpaxzxjjyw_mondo_relaxed.owl Phialophora GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:43219 biolink:NamedThing Herpotrichiellaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:82104 ncbi_taxonomy owl:Class MONDO:0021339 biolink:NamedThing carcinoma of hard palate A carcinoma that involves the hard palate. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of hard palate|hard palate carcinoma|carcinoma of the hard palate SCTID:254434008|NCIT:C8394|UMLS:C0345550 owl:Class MONDO:0002368 biolink:NamedThing papillary serous cystadenocarcinoma A malignant cystic serous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present. tmpaxzxjjyw_mondo_relaxed.owl serous surface papillary carcinoma (morphologic abnormality)|papillary serous cystadenocarcinoma|papillary serous adenocarcinoma|papillary serous carcinoma|micropapillary serous carcinoma SCTID:716649003|NCIT:C8377|DOID:2632|UMLS:C0334359|ICDO:8460/3 owl:Class MONDO:0015292 biolink:NamedThing endotheliitis An inflammatory disease involving a pathogenic inflammatory response in the endothelium. tmpaxzxjjyw_mondo_relaxed.owl inflammation of endothelium|endothelium inflammation Orphanet:137602 owl:Class HGNC:7714 biolink:NamedThing NDUFS7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032927 biolink:NamedThing triokinase and FMN cyclase deficiency syndrome tmpaxzxjjyw_mondo_relaxed.owl TKFCD|TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME OMIM:618805 owl:Class UBERON:0005610 biolink:NamedThing iliac vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001756 biolink:NamedThing frontal sinus cancer A malignant neoplasm involving the frontal sinus. tmpaxzxjjyw_mondo_relaxed.owl cancer of frontal sinus|malignant tumor of the frontal sinus|malignant frontal sinus tumor|malignant neoplasm of frontal sinus|malignant tumor of frontal sinus|malignant neoplasm of the frontal sinus|frontal sinus cancer|malignant frontal sinus neoplasm NCIT:C3542|ICD9:160.4|SCTID:363427000|ICD10:C31.2|DOID:1360|UMLS:C0153478 owl:Class HP:0011030 biolink:NamedThing Abnormal blood transition element cation concentration An abnormality of the homeostasis (concentration) of transition element cation. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of transition element cation homeostasis UMLS:C4023584 peter 2011-03-04T07:59:31Z human_phenotype owl:Class UBERON:0003475 biolink:NamedThing ureteric vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003520 biolink:NamedThing pelvis blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014063 biolink:NamedThing mitochondrial complex III deficiency nuclear type 2 Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene. tmpaxzxjjyw_mondo_relaxed.owl TTC19 mitochondrial complex III deficiency|mitochondrial complex III deficiency, nuclear type 2|mitochondrial complex III deficiency caused by mutation in TTC19|mitochondrial complex III deficiency nuclear type 2|mitochondrial Complex 3 deficiency, nuclear type 2|MC3DN2 UMLS:C3554605|Orphanet:1460|OMIM:615157|DOID:0060351 owl:Class MONDO:0017021 biolink:NamedThing secondary interstitial lung disease specific to childhood associated with a connective tissue disease tmpaxzxjjyw_mondo_relaxed.owl secondary ILD specific to childhood associated with a connective tissue disease 2022-03-01 UMLS:CN202334|Orphanet:264704 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class GO:0016408 biolink:NamedThing C-acyltransferase activity Catalysis of the transfer of an acyl group to a carbon atom on the acceptor molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0030347 biolink:NamedThing Abnormal circulating androgen level An anomaly in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4072892 human_phenotype owl:Class MONDO:0056820 biolink:NamedThing nasal cavity and paranasal sinus neoplasm A benign or malignant neoplasm that affects the nasal cavity or paranasal sinuses. Representative examples of benign neoplasms include Schneiderian papilloma and salivary gland-type adenoma. Representative examples of malignant neoplasms include carcinoma and lymphoma. tmpaxzxjjyw_mondo_relaxed.owl nasal cavity and paranasal sinus neoplasm UMLS:C1334925|NCIT:C7336 Editor note: TODO add uberon term owl:Class MONDO:0017952 biolink:NamedThing non-familial rare disease with dilated cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN204097|Orphanet:324767 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: disease or disorder' MONDO_0000001 owl:Class MONDO:0016338 biolink:NamedThing non-familial dilated cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226906|Orphanet:217629 owl:Class HP:0004307 biolink:NamedThing Abnormal anatomic location of the heart Developmental defect characterized by an anomalous anatomic location of the heart. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025359 peter 2008-02-20T01:23:00Z human_phenotype owl:Class MONDO:0032751 biolink:NamedThing arthrogryposis, distal, type 2B3 tmpaxzxjjyw_mondo_relaxed.owl DA2B3|arthrogryposis, distal, type 2B3|distal arthrogryposis type 2B3 (Sheldon-Hall) DOID:0111602|OMIM:618436 owl:Class MONDO:0016307 biolink:NamedThing Niemann-Pick disease type C, severe early infantile neurologic onset tmpaxzxjjyw_mondo_relaxed.owl Orphanet:216975|ICD10:E75.2|UMLS:CN201113 owl:Class MONDO:0011867 biolink:NamedThing microphthalmia with cyst, bilateral facial clefts, and limb anomalies tmpaxzxjjyw_mondo_relaxed.owl microphthalmia with cyst, bilateral facial clefts, and limb anomalies MESH:C564370|OMIM:607597|UMLS:C1843492 owl:Class MONDO:0004389 biolink:NamedThing mite infestation Infestations with arthropods of the subclass acari, superorder Acariformes. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026229|ICD10:B88.0|ICD9:133|MESH:D008924|ICD10:B88.9|ICD9:133.9|SCTID:240885009|DOID:7894 owl:Class CHEBI:24669 biolink:NamedThing hydroxy carboxylic acid Any carboxylic acid with at least one hydroxy group. tmpaxzxjjyw_mondo_relaxed.owl hydroxycarboxylic acid|hydroxy carboxylic acids|hydroxycarboxylic acids owl:Class MONDO:0021546 biolink:NamedThing ependymal tumor of spinal cord An ependymal tumor that arises from the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl ependymal tumor of spinal cord|spinal cord ependymal tumor UMLS:C4318747|NCIT:C131526 owl:Class MONDO:0009087 biolink:NamedThing deafness, neural, congenital moderate tmpaxzxjjyw_mondo_relaxed.owl deafness, neural, congenital moderate MESH:C565640|UMLS:C1857337|OMIM:221500 owl:Class HP:0000095 biolink:NamedThing Abnormal renal glomerulus morphology A structural anomaly of the glomerulus. tmpaxzxjjyw_mondo_relaxed.owl Morphologic abnormality of the renal glomerulus|Abnormality of renal glomerulus morphology UMLS:C4025889 Each human kidney contains approximately one million nephrons. The glomerulus is the most proximal component of the nephron. The glomerulus of the mammalian kidney is a highly developed vascular bed that acts as a filter, allowing a filtrate of small molecules, such as water, sugars, electrolytes and small proteins, to pass through a barrier that retains high molecular weight proteins and cells in the circulation. human_phenotype owl:Class UBERON:0003458 biolink:NamedThing neck bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000282 biolink:NamedThing smooth muscle fiber of ascending colon A smooth muscle cell that is part of the ascending colon. tmpaxzxjjyw_mondo_relaxed.owl non-striated muscle fiber of ascending colon FMA:17518 cell owl:Class MONDO:0012330 biolink:NamedThing talo-patello-scaphoid osteolysis Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested. tmpaxzxjjyw_mondo_relaxed.owl singh-Williams-McAlister syndrome|talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals OMIM:609655|MESH:C536894|UMLS:C1864784|GARD:0010061|Orphanet:50809 owl:Class HP:0000238 biolink:NamedThing Hydrocephalus Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. tmpaxzxjjyw_mondo_relaxed.owl Nonsyndromal hydrocephalus|Too much cerebrospinal fluid in the brain|Hydrocephaly UMLS:C0020255|SNOMEDCT_US:230745008|MSH:D006849 Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. HP:0007189|HP:0008503 human_phenotype owl:Class MONDO:0002066 biolink:NamedThing breast adenomyoepithelioma A usually benign tumor arising from the breast. It is characterized by the proliferation of cells with myoepithelial differentiation around spaces which are lined by epithelial cells. Rarely, the epithelial and/or myoepithelial cells may undergo malignant transformation. Cases with malignant transformation may follow an aggressive clinical course, including recurrences and local and distant metastases. tmpaxzxjjyw_mondo_relaxed.owl BRAME|malignant adenomyoepithelioma of breast|adenomyoepithelioma of the breast|breast adenomyoepithelioma with malignant change|breast adenomyoepithelioma DOID:1642|UMLS:C1510795|NCIT:C6899|ICDO:8983/0|ONCOTREE:BRAME owl:Class MONDO:0009404 biolink:NamedThing hypertelorism, microtia, facial clefting syndrome Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. tmpaxzxjjyw_mondo_relaxed.owl Bixler-Christian-Gorlin syndrome|hypertelorism microtia facial clefting syndrome|HMC syndrome|hypertelorism, microtia, facial clefting syndrome|hypertelorism-microtia-facial clefting syndrome|Bixler syndrome|Bixler Christian Gorlin syndrome|hypertelorism-microtia-clefting syndrome GARD:0000897|Orphanet:2213|UMLS:C0220742|DOID:14670|OMIM:239800|SCTID:721836009|ICD10:Q87.0|MESH:C537632 owl:Class MONDO:0010876 biolink:NamedThing recessive aplasia cutis congenita of limbs Recessive aplasia cutis congenita of limbs is an extremely rare variant of aplasia cutis congenita (ACC) characterized by the congenital absence of skin on the upper and/or lower limbs, with these lesions usually healing spontaneously resulting in a hypotrichotic scar. Recessive ACC of limbs may be associated with junctional epidermolysis bullosa. The inheritance was hypothesized to be autosomal recessive. There have been no further descriptions in the literature since 1980. tmpaxzxjjyw_mondo_relaxed.owl aplasia cutis congenita of limbs recessive|congenital absence of skin on the upper or lower limbs|recessive aplasia cutis congenita of the limbs|aplasia cutis congenita of limbs, autosomal recessive GARD:0000754|SCTID:723500009|UMLS:C1838206|MESH:C536840|Orphanet:1115|OMIM:600360|ICD10:Q84.8 https://rarediseases.info.nih.gov/diseases/754/aplasia-cutis-congenita-of-limbs-recessive owl:Class MONDO:0012367 biolink:NamedThing retinitis pigmentosa 31 Any retinitis pigmentosa in which the cause of the disease is a mutation in the TOPORS gene. tmpaxzxjjyw_mondo_relaxed.owl RP31|retinitis pigmentosa type 31|retinitis pigmentosa caused by mutation in TOPORS|TOPORS retinitis pigmentosa|retinitis pigmentosa 31|RP 31 ICD10:H35.5|DOID:0110391|GARD:0010396|MESH:C563685|UMLS:C1835923|OMIM:609923 https://rarediseases.info.nih.gov/diseases/10396/retinitis-pigmentosa-31 owl:Class MONDO:0005709 biolink:NamedThing common cold An inflammatory process affecting the nasal mucosa, usually caused by viruses (e.g., rhinovirus, adenovirus, parainfluenza virus, and coronavirus). It is characterized by chills, headaches, mucopurulent nasal discharge, coughing, and facial pain. tmpaxzxjjyw_mondo_relaxed.owl acute rhinitis|rhino-sinusitis|acute nasopharyngitis [common cold]|acute nasopharyngitis|nasopharyngitis - acute|acute viral rhinopharyngitis|nasopharyngitis, acute|acute coryza NCIT:C34500|DOID:10459|ICD10:J00|SCTID:82272006|MESH:D003139|ICD9:460|UMLS:C0009443|EFO:0007214 owl:Class MONDO:0020418 biolink:NamedThing dysphagia lusoria tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q25.4|SCTID:231719009|Orphanet:99082|ICD9:787.29|UMLS:C0267073 owl:Class MONDO:0044355 biolink:NamedThing isolated sternocostoclavicular hyperostosis Isolated sternocostoclavicular hyperostosis is a rare rheumatologic disease characterized by predominantly bilateral, chronic, sterile inflammation and progressive sclerosis and hyperostosis of the sternocostoclavicular joint, with adjacent soft tissue ossification, in the absence of other joint involvement. It presents as recurrent episodes of pain, edema and/or erythema of the sternoclavicular region. Palmoplantar pustulosis may be additionally observed in some cases. tmpaxzxjjyw_mondo_relaxed.owl isolated SCCH SCTID:766711009|UMLS:C0020499|Orphanet:178311|ICD10:M85.8 owl:Class MONDO:0004182 biolink:NamedThing stage IVb bladder cancer Stage IV includes T4b, NO,MO/any T NI, MO/ any T N2 MO,/ any T N3 MO/ any T any N M1 : T4b: Tumor invades the pelvic wall, abdominal wall. N1: Metastasis in a single lymph node, 2 cm or less in greatest dimension. N2: Metastasis in a single lymph node, more than 2 cm but not more than 5 cm in greatest dimension; or multiple lymph nodes, none more than 5 cm in greatest dimension. N3: Metastasis in a lymph node more than 5 cm in greatest dimension. M1: Distant metastasis. tmpaxzxjjyw_mondo_relaxed.owl Jewett-Marshall bladder cancer|Jewett-Marshall stage D2 urinary bladder cancer|stage IVB urinary bladder carcinoma|Jewett-Marshall stage D2 bladder cancer|Jewett-Marshall stage D2 urinary bladder carcinoma|stage IVB urinary bladder cancer|Jewett-Marshall stage D1 bladder cancer|stage IVB bladder cancer UMLS:C1336362|DOID:7315|NCIT:C9368 Editor note: consider obsoleting or moving to stage owl:Class MONDO:0024288 biolink:NamedThing hyperbilirubinemia A disease characterized by elevated level of the pigment bilirubin in the blood. tmpaxzxjjyw_mondo_relaxed.owl bilirubinemia|hyperbilirubinemia UMLS:C0020433|SCTID:14783006 May be acquired or inherited owl:Class MONDO:0006614 biolink:NamedThing subcorneal pustular dermatosis A rare, benign, chronic disease characterized by sterile pustular eruption, typically involving the flexural sites of the trunk and proximal extremities. tmpaxzxjjyw_mondo_relaxed.owl Sneddon-Wilkinson disease or syndrome|pustulosis subcornealis|subcorneal pustular dermatitis|Sneddon-Wilkinson disease|subcorneal pustular dermatosis ICD10:L13.1|MedDRA:10042342|SCTID:25147002|EFO:1000771|Orphanet:48377|DOID:8508|UMLS:C0600336|ICD9:694.1 owl:Class MONDO:0005981 biolink:NamedThing tick paralysis Paralysis caused by a neurotropic toxin secreted by the salivary glands of ticks. tmpaxzxjjyw_mondo_relaxed.owl EFO:0007509|UMLS:C0040197|SCTID:74225001|MESH:D013985|DOID:11285|GARD:0007771 https://rarediseases.info.nih.gov/diseases/7771/tick-paralysis owl:Class MONDO:0012422 biolink:NamedThing type 1 diabetes mellitus 19 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q24.3. tmpaxzxjjyw_mondo_relaxed.owl insulin-dependent diabetes mellitus 19|IDDM19|diabetes mellitus, insulin-dependent, 19 MESH:C565715|DOID:0110756|UMLS:C1857808|ICD10:E10|OMIM:610155 owl:Class MONDO:0010112 biolink:NamedThing thalamic degeneration, symmetric infantile tmpaxzxjjyw_mondo_relaxed.owl thalamic degeneration, symmetric infantile|symmetrical thalamic degeneration in infants|symmetric infantile thalamic degeneration UMLS:C2931220|GARD:0005160|OMIM:273490|MESH:C536504|Orphanet:3311 https://rarediseases.info.nih.gov/diseases/5160/thalamic-degeneration-symmetric-infantile owl:Class MONDO:0006805 biolink:NamedThing intermediate coronary syndrome Angina pectoris (or equivalent type of ischemic discomfort) which has recently changed in frequency, duration, intensity, or occurs at rest. tmpaxzxjjyw_mondo_relaxed.owl angina at rest|worsening angina|anginal chest pain at rest|Preinfarction angina|impending infarction|unstable angina NCIT:C66911|MESH:D000789|MedDRA:10022554|UMLS:C0002965|DOID:8805|ICD10:I20.0|EFO:1000985|ICD9:411.1 owl:Class MONDO:0024322 biolink:NamedThing disorder of glycosylation A disease that has its basis in the disruption of glycosylation. tmpaxzxjjyw_mondo_relaxed.owl disorder of glycosylation|glycosylation disease May be inborn or somatic owl:Class MONDO:0017850 biolink:NamedThing sirenomelia Sirenomelia is a rare, genetic, developmental defect during embryogenesis disorder characterized by fusion of the lower limbs and associated with some degree of lower extremity reduction and persistent vitelline artery. Patients also present severe malformations of the musculoskeletal system (e.g. sacral agenesis), as well as the urogenital and lower gastrointestinal tracts (e.g. renal agenesis, absent bladder, rectal/anal atresia, and absent internal genitalia). Most cases are stillborn, or die during, or shortly after, birth. tmpaxzxjjyw_mondo_relaxed.owl mermaid malformation|symmelia|Sirenomelus|mermaid syndrome|sirenomelia sequence|Fused legs and feet UMLS:C0037205|SCTID:67254002|Orphanet:3169|GARD:0007652|OMIM:600145|MedDRA:10049216|NCIT:C118455|ICD10:Q87.2 owl:Class MONDO:0013201 biolink:NamedThing Waardenburg syndrome type 4B A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3. tmpaxzxjjyw_mondo_relaxed.owl Waardenburg syndrome, type 4B, with Hirschsprung disease|WS4B|Waardenburg syndrome type IVB|Waardenburg syndrome type 4B|Waardenburg syndrome with Hirschsprung disease type 4B|Waardenburg syndrome caused by mutation in EDN3|EDN3 Waardenburg syndrome|Waardenburg syndrome, type 4B UMLS:C2750457|OMIM:613265|MESH:C567680|DOID:0110954|Orphanet:897 owl:Class UBERON:8410030 biolink:NamedThing lymphatic vessel of appendix tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004544 biolink:NamedThing chordoid meningioma A WHO grade II, usually recurring meningioma characterized by the predominance of tissues that are histologically similar to chordoma. tmpaxzxjjyw_mondo_relaxed.owl CHOM|chordoid meningioma|meningioma, chordoid|meningioma, chordoid (morphologic abnormality) NCIT:C6908|DOID:8368|UMLS:C1370510|EFO:1000176|ONCOTREE:CHOM owl:Class MONDO:0020351 biolink:NamedThing Blake pouch cyst Blake pouch cyst is a non-syndromic, usually benign, cystic malformation of the posterior fossa characterized by a midline outpouching of the superior medullary velum into the cisterna magna that results from failure of the rudimental fourth ventricular tela choroidea to regress during embryogenesis. Patients can be asymptomatic or present in childhood or adulthood with clinical manifestations of hydrocephalus, such as headache, hypotonia, vertigo, syncope, vomiting, blurred or double vision, nystagmus, papilledema, and delayed gait development. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98922|ICD10:Q03.1 owl:Class MONDO:0010123 biolink:NamedThing absent thumb-short stature-immunodeficiency syndrome An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. tmpaxzxjjyw_mondo_relaxed.owl thumb agenesis, short stature, and immunodeficiency ICD10:D82.8|MESH:C564770|UMLS:C1848818|Orphanet:2951|OMIM:274190 owl:Class HGNC:1915 biolink:NamedThing CHD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012481 biolink:NamedThing mevalonic aciduria Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes. tmpaxzxjjyw_mondo_relaxed.owl Mevalonicaciduria|hyperimmunoglobulin D with periodic fever syndrome|mevalonic aciduria|complete mevalonate kinase deficiency|MVA|HIDS|MEVA|MKD DOID:0050452|GARD:0003588|UMLS:C0398691|SCTID:718558008|ICD10:E88.8|Orphanet:29|MedDRA:10072219|OMIM:610377|NCIT:C84890|UMLS:C1959626 https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria owl:Class MONDO:0017550 biolink:NamedThing humero-radial synostosis, unilateral tmpaxzxjjyw_mondo_relaxed.owl humero-radial fusion, unilateral Orphanet:295209|ICD10:Q74.0 owl:Class MONDO:0021019 biolink:NamedThing X-linked recessive ocular albinism X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males. tmpaxzxjjyw_mondo_relaxed.owl XLOA|ocular albinism type 1|Nettleship-Falls syndrome|ocular albinism, Nettleship-Falls type|OA1|Nettleship-Falls type ocular albinism|albinism, ocular, type 1|X-linked ocular albinism|albinism, ocular, type I ICD10:E70.3|OMIM:300500|UMLS:C0342684|NCIT:C118785|ICD9:270.2|GARD:0008471|SCTID:78642008|Orphanet:54|MESH:C537863 owl:Class CHEBI:24473 biolink:NamedThing halogen tmpaxzxjjyw_mondo_relaxed.owl halogenes|group VII elements|halogens|Halogene|halogeno|halogenos|halogen|group 17 elements|halogene owl:Class MONDO:0043458 biolink:NamedThing radiation injury Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES. tmpaxzxjjyw_mondo_relaxed.owl radiation sickness|radiation injury|radiation Sicknesses|sickness, radiation|injury, radiation|radiation syndromes|syndrome, radiation|Sicknesses, radiation|syndromes, radiation|radiation syndrome|Injuries, radiation MESH:D011832|UMLS:C0034535 owl:Class CL:1000549 biolink:NamedThing kidney cortex collecting duct epithelial cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001063 cell owl:Class CHEBI:35137 biolink:NamedThing hemoprotein Conjugated proteins containing heme as the prosthetic group. tmpaxzxjjyw_mondo_relaxed.owl Haemprotein|hemeproteins|heme protein|hemoprotein|haemoprotein|haem protein|hemoproteins|Haemoprotein owl:Class CHEBI:35136 biolink:NamedThing iron protein tmpaxzxjjyw_mondo_relaxed.owl iron protein|iron-containing proteins|iron proteins owl:Class MONDO:0024340 biolink:NamedThing retinal neuroblastoma A neuroblastoma arising from the retina. tmpaxzxjjyw_mondo_relaxed.owl retina neuroblastoma|neuroblastoma of retina|retinal neuroblastoma|neuroblastoma of the retina NCIT:C6956 owl:Class MONDO:0030323 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 31 tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 31|SCAR31 OMIM:619422 owl:Class MONDO:0019390 biolink:NamedThing Susac syndrome Susac syndrome (SS) is a rare disorder characterized by the triad of central nervous system (CNS) dysfunction, branch retinal artery occlusions (BRAOs) and sensorineural hearing loss (SNHL). It is presumably due to autoimmune-mediated occlusions of microvessels in the CNS, the retina, and the inner ear. tmpaxzxjjyw_mondo_relaxed.owl SICRET (small infarction of cochlear, retinal, and encephalic tissue) syndrome|small infarctions of cochlear, retinal and encephalic tissue|retinopathy-encephalopathy-deafness associated with microangiopathy|Retinocochleocerebral vasculopathy|RED-M|SICRET syndrome GARD:0007713|MESH:D055955|MedDRA:10071573|SCTID:702575003|UMLS:C2717757|ICD9:348.39|ICD10:I67.7|NCIT:C116363|EFO:1001856|Orphanet:838 https://rarediseases.info.nih.gov/diseases/7713/susac-syndrome owl:Class UBERON:0003610 biolink:NamedThing heart elastic tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001579 biolink:NamedThing corneal staphyloma tmpaxzxjjyw_mondo_relaxed.owl ICD9:371.73|DOID:12753|ICD10:H18.72|UMLS:C0152440|SCTID:52476003 owl:Class SO:0000400 biolink:NamedThing sequence_attribute An attribute describes a quality of sequence. tmpaxzxjjyw_mondo_relaxed.owl sequence attribute owl:Class UBERON:0034909 biolink:NamedThing intermaxillary suture tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015538 biolink:NamedThing indeterminate dendritic cell tumor A very rare dendritic cell tumor composed of spindle to ovoid cells with a phenotype that is similar to the Langerhans cells. Patients usually present with cutaneous papules, nodules, and plaques. Systemic symptoms are usually absent. The clinical course is variable. tmpaxzxjjyw_mondo_relaxed.owl IDCT|indeterminate dendritic cell tumor|indeterminate cell histiocytosis|indeterminate Dendritic cell tumor SCTID:721313009|ICD10:D76.3|ONCOTREE:IDCT|UMLS:C2825741|NCIT:C81767|Orphanet:158019 owl:Class MONDO:0017518 biolink:NamedThing brachydactyly of toes, bilateral tmpaxzxjjyw_mondo_relaxed.owl short toes, bilateral ICD10:Q72.8|Orphanet:295134 owl:Class MONDO:0017452 biolink:NamedThing non-syndromic brachydactyly of toes A non-syndromic brachydactyly that involves the pes. tmpaxzxjjyw_mondo_relaxed.owl short toes|non-syndromic brachydactyly of pes|pes non-syndromic brachydactyly SCTID:205346006|ICD10:Q72.8|Orphanet:294998|ICD9:755.66 owl:Class MONDO:0008645 biolink:NamedThing ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. tmpaxzxjjyw_mondo_relaxed.owl ventricular extrasystoles perodactyly Robin sequence|Stoll-Kieny-Dott syndrome|ventricular extrasystoles with syncope, perodactyly, and ROBIN sequence|ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence OMIM:192445|SCTID:719823007|ICD10:Q87.8|GARD:0005472|Orphanet:3201|MESH:C537497 owl:Class MONDO:0010292 biolink:NamedThing Uruguay Faciocardiomusculoskeletal syndrome tmpaxzxjjyw_mondo_relaxed.owl Uruguay Faciocardiomusculoskeletal syndrome|FCMSU|Fcms|faciocardiomusculoskeletal syndrome, Uruguay type|URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome UMLS:C1846010|MESH:C564544|OMIM:300280 owl:Class NCIT:C12917 biolink:NamedThing Malignant Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10891 biolink:NamedThing SIX5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022776 biolink:NamedThing cleft lip and/or palate with mucous cysts of lower tmpaxzxjjyw_mondo_relaxed.owl GARD:0001372 https://rarediseases.info.nih.gov/diseases/1372/cleft-lip-andor-palate-with-mucous-cysts-of-lower owl:Class GO:0002335 biolink:NamedThing mature B cell differentiation The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen. tmpaxzxjjyw_mondo_relaxed.owl mature B lymphocyte differentiation|mature B-cell differentiation|mature B-lymphocyte differentiation|mature cell development owl:Class MONDO:0000395 biolink:NamedThing alcohol-related birth defect A physical or cognitive mental abnormality caused by maternal alcohol consumption and its toxic effect on the developing embryo during pregnancy. tmpaxzxjjyw_mondo_relaxed.owl ARBD|alcohol related birth defect UMLS:C3146244|NCIT:C92727|DOID:0050668 owl:Class MONDO:0018528 biolink:NamedThing congenital myopathy with myasthenic-like onset Congenital myopathy with myasthenic-like onset is a rare, genetic, non-dystrophic myopathy characterized by fatigable muscle weakness associated with congenital myopathy. Patients present with axial hypotonia, myopathic facies with fatigable ptosis, feeding difficulties, delayed gross motor development and proximal limb weakness with a RYR1-related typical pattern of muscle involvement (i.e. severe involvement of the soleus muscle and sparring of the rectus femoris, sartorius, gracilis and semitendinous muscles). Scoliosis and frequent respiratory tract infections are additional observed features. tmpaxzxjjyw_mondo_relaxed.owl congenital myopathy with myasthenic-like onset SCTID:763315005|Orphanet:424107|ICD10:G71.2 owl:Class CL:0002594 biolink:NamedThing smooth muscle cell of the umbilical artery A smooth muscle cell of the umbilical artery. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T05:01:48Z cell owl:Class MONDO:0007018 biolink:NamedThing vulvitis Inflammation of the vulva. It is characterized by pruritus and painful urination. tmpaxzxjjyw_mondo_relaxed.owl inflammation of mammalian vulva|mammalian vulva inflammation UMLS:C0042996|ICD10:N76.2|DOID:3901|SCTID:63144007|EFO:1001239|MedDRA:10047780|MESH:D014847 owl:Class FOODON:03400289 biolink:NamedThing USA agency food product type Food group having common consumption, functional or manufacturing characteristics, e.g. *FRUIT OR VEGETABLE PRODUCT*, *DAIRY PRODUCT*, *CONFECTIONARY*, *PREPARED FOOD PRODUCT*, etc. [FDA CFSAN 1995] tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0289 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org owl:Class MONDO:0024674 biolink:NamedThing Pancoast syndrome A rare neoplastic syndrome characterized by obstruction of the thoracic outlet leading to compression of the brachial plexus and vessels within. It is usually caused by a malignant neoplasm in the superior pulmonary sulcus. The most commonly involved neoplasms are non-small cell lung carcinomas. Clinical signs include Horner's syndrome, shoulder pain radiating down the arm in the ulnar distribution followed by edema and atrophy of the affected extremity. Clinical course usually leads to early local invasion of the bony thoracic structures. Prognosis is highly stage-dependent. tmpaxzxjjyw_mondo_relaxed.owl Pancoasts syndrome|superior pulmonary sulcus syndrome|syndrome, Pancoast's|Pancoast tumor|Pancoast's syndrome|Pancoast syndrome|syndrome, Pancoast|tumor, Pancoast UMLS:C0030271|SCTID:278065000|MESH:D010178|NCIT:C55815 owl:Class HP:0040084 biolink:NamedThing Abnormal circulating renin A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. tmpaxzxjjyw_mondo_relaxed.owl Abnormal circulating renin|Abnormal plasma renin UMLS:C4021038 HPO:skoehler human_phenotype owl:Class HP:0000847 biolink:NamedThing Abnormality of renin-angiotensin system An abnormality of the renin-angiotensin system. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the renin-aldosterone axis UMLS:C4021793 The renin-angiotensin system is a hormone system that regulates blood pressure and water (fluid) balance. HP:0003350 human_phenotype owl:Class MONDO:0012354 biolink:NamedThing platelet-type bleeding disorder 8 P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate. tmpaxzxjjyw_mondo_relaxed.owl ADP platelet receptor P2Y12 defect|platelet-type bleeding disorder 8|bleeding disorder due to P2Ry12 defect|bleeding disorder, platelet-type 8|bleeding disorder, platelet-type, 8|P2Y12 defect|bleeding disorder due to P2Rx1 defect, somatic|BDPLT8 Orphanet:36355|OMIM:609821|DOID:0060692|ICD10:D69.8|SCTID:725291001|MESH:C565220|UMLS:C1853278|GARD:0012478 owl:Class MONDO:0008663 biolink:NamedThing snowflake vitreoretinal degeneration Snowflake vitreoretinal degeneration (SVD) is characterised by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localised to a small region on chromosome 2q36. tmpaxzxjjyw_mondo_relaxed.owl vitreoretinal degeneration, snowflake type|snowflake vitreoretinal degeneration|snowflake degeneration in hereditary vitreoretinal degeneration|SVD DOID:0111570|UMLS:C1860405|ICD10:H35.5|GARD:0009706|Orphanet:91496|OMIM:193230|MESH:C536677 https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration owl:Class MONDO:0016355 biolink:NamedThing semilobar holoprosencephaly Semilobar holoprosencephaly is one of the classical forms of holoprosencephaly (HPE) in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:220386|OMIM:610829|OMIM:609637|ICD10:Q04.2|OMIM:157170 owl:Class MONDO:0016719 biolink:NamedThing microcephaly-seizures-intellectual disability-heart disease syndrome Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males. tmpaxzxjjyw_mondo_relaxed.owl microcephaly seizures intellectual disability heart disorders|microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities|microcephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalities|microcephaly seizures mental retardation heart disorders ICD10:Q87.8|MESH:C537544|UMLS:C2931529|GARD:0003632|Orphanet:2519 owl:Class MONDO:0009534 biolink:NamedThing chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation tmpaxzxjjyw_mondo_relaxed.owl lymphoblastic transformation, inhibition of OMIM:247430|MESH:C565433 owl:Class MONDO:0013343 biolink:NamedThing C1Q deficiency C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a complex and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor. tmpaxzxjjyw_mondo_relaxed.owl C1QD|C1q deficiency|C1Q deficiency NCIT:C119990|GARD:0012958|Orphanet:169147|OMIM:613652|UMLS:C3150902 https://rarediseases.info.nih.gov/diseases/12958/c1q-deficiency owl:Class MONDO:0012898 biolink:NamedThing narcolepsy 4, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl NRCLP4|narcolepsy 4, susceptibility to OMIM:612417|Orphanet:2073|UMLS:C2676275 owl:Class MONDO:0000820 biolink:NamedThing cerebral cavernous malformation A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur. tmpaxzxjjyw_mondo_relaxed.owl brain cavernous hemangioma|CCM|familial cavernous angioma|cavernous angiomatous malformations|cerebral capillary malformations|cerebral cavernous malformation NCIT:C84626|DOID:0060669|Orphanet:164 owl:Class NCBITaxon:11146 biolink:NamedThing Porcine respiratory coronavirus tmpaxzxjjyw_mondo_relaxed.owl porcine respiratory coronavirus PRCV|porcine respiratory virus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:11149 biolink:NamedThing Transmissible gastroenteritis virus tmpaxzxjjyw_mondo_relaxed.owl transmissible gastroenteritis coronavirus|Porcine transmissable gastroenteritis coronavirus|transmissible gastroenteritis virus TGEV|Porcine transmissible gastroenteritis coronavirus|porcine transmissible gastroenteritis virus|TGEV GC_ID:1 NCBITaxon:12859 ncbi_taxonomy owl:Class MONDO:0023657 biolink:NamedThing intellectual developmental disorder, autosomal dominant 65 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal dominant 65|MRD65 OMIM:619320 owl:Class GO:0006576 biolink:NamedThing cellular biogenic amine metabolic process The chemical reactions and pathways occurring at the level of individual cells involving any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. tmpaxzxjjyw_mondo_relaxed.owl biogenic amine metabolism owl:Class MONDO:0006737 biolink:NamedThing dystocia Slow or difficult obstetric labor or childbirth. tmpaxzxjjyw_mondo_relaxed.owl MESH:D004420|EFO:1000911 owl:Class HGNC:10938 biolink:NamedThing SLC19A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009436 biolink:NamedThing congenital hypothalamic hamartoma syndrome Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic. tmpaxzxjjyw_mondo_relaxed.owl hamartoma of the hypothalamus|hypothalamic hamartomas|hamartoma of hypothalamus|hypothalamic hamartoma|congenital hypothalamic hamartoma syndrome SCTID:237714006|MESH:C537158|NCIT:C4385|GARD:0002934|OMIM:241800|ICD9:759.6|Orphanet:2113 https://rarediseases.info.nih.gov/diseases/2934/hypothalamic-hamartomas owl:Class UBERON:0010413 biolink:NamedThing parametrial fat pad tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022729 biolink:NamedThing chondrodysplasia punctata with steroid sulfatase deficiency tmpaxzxjjyw_mondo_relaxed.owl GARD:0006050 https://rarediseases.info.nih.gov/diseases/6050/chondrodysplasia-punctata-with-steroid-sulfatase-deficiency owl:Class MONDO:0005857 biolink:NamedThing morbillivirus infectious disease Infections with viruses of the genus morbillivirus, family paramyxoviridae. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions. tmpaxzxjjyw_mondo_relaxed.owl Morbillivirus disease or disorder|Morbillivirus infectious disease|Morbillivirus caused disease or disorder UMLS:C0206614|MESH:D018185|EFO:0007377 owl:Class MONDO:0030885 biolink:NamedThing amyotrophic lateral sclerosis 26 with or without frontotemporal dementia tmpaxzxjjyw_mondo_relaxed.owl ALS26 OMIM:619133 owl:Class PO:0025029 biolink:NamedThing shoot axis A plant axis (PO:0025004) that is part of a shoot system (PO:0009006). tmpaxzxjjyw_mondo_relaxed.owl eje del epiblasto (epiblastema) (Spanish, exact)|caullome (exact)|shoot (related)|シュート軸 (Japanese, exact) Often bears leaves and branches. In vascular plants, has at least one node and one internode. rwalls 2010-07-01T03:46:35Z plant_anatomy owl:Class PO:0025004 biolink:NamedThing plant axis An axial plant organ (PO:0009008). tmpaxzxjjyw_mondo_relaxed.owl 植物軸（軸柱） (Japanese, exact)|plant axes (exact, plural)|eje de la planta (Spanish, exact) Includes roots and shoots. rwalls 2010-07-01T03:44:41Z plant_anatomy owl:Class GO:0001977 biolink:NamedThing renal system process involved in regulation of blood volume A slow mechanism of blood pressure regulation that responds to changes in pressure resulting from fluid and salt intake by modulating the quantity of blood in the circulatory system. tmpaxzxjjyw_mondo_relaxed.owl renal blood volume control of blood pressure|renal regulation of blood volume owl:Class MONDO:0006555 biolink:NamedThing granulomatous dermatitis An inflammatory reaction of the skin to various organic and inorganic antigens. It is characterized by tumor-like masses or nodules of granulomatous tissue comprised of activated histiocytes, epitheliod cells, and multinucleated giant cells. tmpaxzxjjyw_mondo_relaxed.owl DOID:4397|NCIT:C3505|EFO:1000705|UMLS:C0743086 owl:Class MONDO:0001585 biolink:NamedThing hallucinogen abuse A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. tmpaxzxjjyw_mondo_relaxed.owl SCTID:74851005|DOID:12797|ICD10:F16.1|ICD9:305.3 owl:Class MONDO:0024529 biolink:NamedThing MVP1 tmpaxzxjjyw_mondo_relaxed.owl myxomatous mitral valve prolapse 1|prolapsed mitral valve|mitral valve prolapse, myxomatous 1|mitral valve prolapse, familial, X-linked|MVP1|barlow syndrome|mitral regurgitation, familial|myxomatous valvular disease, familial|mitral valve prolapse 1|click-murmur syndrome|PMV|mitral valve prolapse, familial|floppy mitral valve Orphanet:741|GARD:0003688|OMIM:157700|UMLS:CN074267 owl:Class MONDO:0005984 biolink:NamedThing tinea pedis Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum. tmpaxzxjjyw_mondo_relaxed.owl pes dermatophytosis|dermatophytosis of pes|ringworm of foot|athlete's foot|dermatophytosis of foot SCTID:6020002|ICD10:B35.3|MESH:D014008|ICD9:110.4|EFO:0007512|DOID:12403|UMLS:C0040259 owl:Class NCBITaxon:745 biolink:NamedThing Pasteurella tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:1736960 ncbi_taxonomy owl:Class GO:0046486 biolink:NamedThing glycerolipid metabolic process The chemical reactions and pathways involving glycerolipids, any lipid with a glycerol backbone. Diacylglycerol and phosphatidate are key lipid intermediates of glycerolipid biosynthesis. tmpaxzxjjyw_mondo_relaxed.owl glycerolipid metabolism owl:Class HGNC:5330 biolink:NamedThing IARS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015772 biolink:NamedThing trisomy 8q Trisomy 8q is a very rare disorder characterized by duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, craniofacial abnormalities (prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips), congenital heart defects, skeletal defects, psychomotor retardation. Phenotypic features vary in relation to the duplication size. tmpaxzxjjyw_mondo_relaxed.owl Duplication 8q|8q duplication|trisomy type 8q|partial trisomy 8q|chromosome 8q duplication|8q trisomy ICD10:Q92.2|GARD:0005362|UMLS:C0795829|Orphanet:1752|NCIT:C36428|MESH:C538020 owl:Class HP:0012795 biolink:NamedThing Abnormality of the optic disc A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3808249 The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. peter 2014-05-24T04:37:10Z human_phenotype owl:Class NCBITaxon:36086 biolink:NamedThing Trichuris tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:119093 biolink:NamedThing Trichuridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013845 biolink:NamedThing auriculocondylar syndrome 2 Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene. tmpaxzxjjyw_mondo_relaxed.owl ARCND2|Auriculocondylar syndrome 2|PLCB4 auriculocondylar syndrome|Auriculocondylar syndrome type 2|AURICULOCONDYLAR syndrome 2|auriculocondylar syndrome caused by mutation in PLCB4 UMLS:C3553404|OMIM:614669|Orphanet:137888 owl:Class MONDO:0030953 biolink:NamedThing short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 tmpaxzxjjyw_mondo_relaxed.owl SSFSC2|short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 OMIM:619184 owl:Class NCBITaxon:784 biolink:NamedThing Orientia tsutsugamushi tmpaxzxjjyw_mondo_relaxed.owl Rickettsia akamushi|Theileria tsutsugamushi|Rickettsia orientalis|Rickettsia tsutsugamushi GC_ID:11|PMID:1906730|PMID:8590688 ncbi_taxonomy owl:Class NCBITaxon:69474 biolink:NamedThing Orientia tmpaxzxjjyw_mondo_relaxed.owl PMID:8590688|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0009361 biolink:NamedThing autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius tmpaxzxjjyw_mondo_relaxed.owl hydrocephalus due to congenital stenosis of aqueduct of Sylvius|aqueductal stenosis UMLS:CN074258|OMIM:236635 owl:Class MONDO:0013025 biolink:NamedThing chromosome 6q24-q25 deletion syndrome 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. tmpaxzxjjyw_mondo_relaxed.owl del(6q25)|chromosome 6q25 microdeletion syndrome|6q25 microdeletion syndrome|Del(6)(q25)|deletion 6q25|chromosome 6q24-q25 deletion syndrome|monosomy 6q25 GARD:0003764|DOID:0060424|UMLS:C4304527|OMIM:612863|SCTID:719663005|UMLS:C3150215|Orphanet:251056|NCIT:C36470|ICD10:Q93.5 owl:Class MONDO:0010736 biolink:NamedThing split hand-foot malformation 2 A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26. tmpaxzxjjyw_mondo_relaxed.owl split hand-foot malformation type 2|split-hand/foot deformity 2|split-hand/split-foot anomaly, X-linked|SHFD2|SHFM2|split-hand/foot malformation 2|split hand/foot malformation X-linked|SHSF2|split hand foot anomaly - X-linked|split hand foot deformity 2 MESH:C564056|OMIM:313350|GARD:0004968|ICD10:Q71.6|DOID:0090027|Orphanet:2440|UMLS:C0265554 owl:Class MONDO:0010732 biolink:NamedThing spastic paraparesis-deafness syndrome Spastic paraparesis-deafness syndrome is a chronic neurodegenerative disorder characterised by spastic paraparesis (beginning at about 10 years of age) and hearing deficits. tmpaxzxjjyw_mondo_relaxed.owl familial spastic paraparesis and deafness|spastic paraparesis and deafness|spastic paraparesis - deafness|Wells-Jankovic syndrome UMLS:C2931291|Orphanet:2815|GARD:0005555|MESH:C536692|ICD10:G11.4|SCTID:715504003|OMIM:312910 owl:Class MONDO:0006864 biolink:NamedThing necrotizing sialometaplasia A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma. tmpaxzxjjyw_mondo_relaxed.owl EFO:1001057|DOID:12901|ICD9:527.8|UMLS:C0037033|ICD10:K11.8|SCTID:109769000|MedDRA:10072176|MESH:D012797 owl:Class MONDO:0017365 biolink:NamedThing hereditary acrokeratotic poikiloderma, Weary type tmpaxzxjjyw_mondo_relaxed.owl congenital poikiloderma with bullae, Weary type ICD10:Q82.8|Orphanet:2907 owl:Class UBERON:0005685 biolink:NamedThing midgut dorsal mesentery tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000525 biolink:NamedThing syncytiotrophoblast cell A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo, directly associated with the maternal blood supply. It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy. tmpaxzxjjyw_mondo_relaxed.owl plasmidotrophoblast|syncytial trophoblast|syntrophoblast FMA:83043 cell owl:Class MONDO:0044349 biolink:NamedThing acquired hemoglobinopathy An instance of hemoglobinopathy that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired hemoglobinopathy UMLS:C1263995|SCTID:127039000 owl:Class MONDO:0011986 biolink:NamedThing tropical pancreatitis Tropical pancreatitis is a rare pancreatic disease of juvenile onset occurring mainly in tropical developing countries and characterized by chronic non-alcoholic pancreatitis manifesting with abdominal pain, steatorrhea and fibrocalculous pancreatopathy. It is also commonly associated with the development of pancreatic calculi and pancreatic cancer at a much higher frequency than seen in ordinary chronic pancreatitis. tmpaxzxjjyw_mondo_relaxed.owl tropical calcific pancreatitis|tropical calcific chronic pancreatitis|TCP UMLS:C4510860|OMIM:608189|SCTID:724540009|ICD10:K86.1|Orphanet:103918|UMLS:C1842402|MESH:C564276 owl:Class UBERON:0037144 biolink:NamedThing wall of heart tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002958 biolink:NamedThing signet ring basal cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl skin signet Ring cell basal cell carcinoma|skin signet ring cell basal cell carcinoma|signet Ring cell basal cell carcinoma DOID:4304|NCIT:C38110|UMLS:C1519320 owl:Class OBO:CHR_9606-chr8p11 biolink:NamedThing 8p11 (Human) tmpaxzxjjyw_mondo_relaxed.owl 45200000 36700000 hg38 owl:Class MONDO:0001776 biolink:NamedThing prostate calculus A concretion in the prostate. tmpaxzxjjyw_mondo_relaxed.owl Stone of prostate|prostatic lithiasis|lower urinary tract calculus of prostate gland|calculus of prostate|prostatic stone|prostate gland lower urinary tract calculus ICD9:602.0|DOID:13689|NCIT:C26936|UMLS:C0149525|SCTID:85324003|ICD10:N42.0 owl:Class MONDO:0000663 biolink:NamedThing anosognosia An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060133 owl:Class MONDO:0008551 biolink:NamedThing thoracolaryngopelvic dysplasia A short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. tmpaxzxjjyw_mondo_relaxed.owl THORACOPELVIC dysostosis|autosomal dominant thoracolaryngopelvic dysplasia|TLPD|THORACOLARYNGOPELVIC dysplasia|Barnes syndrome|thoracolaryngopelvic dysplasia SCTID:723556008|Orphanet:3317|ICD10:Q77.2|OMIM:187770|GARD:0005184|OMIM:187760|UMLS:C1861197|MESH:C536517 owl:Class HGNC:4519 biolink:NamedThing GPR68 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:8410002 biolink:NamedThing small intestine lymphatic vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011792 biolink:NamedThing Neoplasm by histology Neoplasm categorized according to type of histological abnormality. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023186 peter 2012-04-22T06:57:50Z human_phenotype owl:Class MONDO:0019532 biolink:NamedThing autoimmune hemolytic anemia, warm type Warm autoimmune hemolytic anemia is the most common form of autoimmune hemolytic anemia defined by the presence of warm autoantibodies against red blood cells (autoantibodies that are active at temperatures between 37-40B0C). tmpaxzxjjyw_mondo_relaxed.owl warm antibody hemolytic anemia|warm antibody AIHA|warm antibody autoimmune hemolytic anemia|warm AIHA|warm-reacting-antibody hemolytic anemia|wAHA|wAIHA NCIT:C162611|UMLS:C0272118|Orphanet:90033|MedDRA:10047822|ICD10:D59.1|SCTID:3978000|GARD:0007876 owl:Class MONDO:0019955 biolink:NamedThing GRFoma 6cm and approximately 1/3 have metastasized at the time of diagnosis. It often co-occurs with Zollinger-Ellison syndrome or multiple endocrine neoplasia type 1 (MEN 1). tmpaxzxjjyw_mondo_relaxed.owl Growth hormone releasing factor tumor|GRF tumor UMLS:CN206877|Orphanet:97261|ICD10:E16.8 owl:Class MONDO:0012058 biolink:NamedThing myocardial infarction, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl Mci2|myocardial infarction, susceptibility to, 2|myocardial infarction, susceptibility to, type 2 OMIM:608557|UMLS:C1837871 owl:Class MONDO:0016188 biolink:NamedThing qualitative or quantitative defects of alphaB-cristallin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209044 owl:Class MONDO:0022782 biolink:NamedThing cleft lower lip cleft lateral canthi chorioretinal tmpaxzxjjyw_mondo_relaxed.owl GARD:0001386 https://rarediseases.info.nih.gov/diseases/1386/cleft-lower-lip-cleft-lateral-canthi-chorioretinal owl:Class MONDO:0012523 biolink:NamedThing retinitis pigmentosa 36 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 36|retinitis pigmentosa caused by mutation in PRCD|retinitis pigmentosa type 36|RP36|PRCD retinitis pigmentosa|RP 36 ICD10:H35.5|GARD:0010403|MESH:C566431|OMIM:610599|UMLS:C1864621|DOID:0110405 https://rarediseases.info.nih.gov/diseases/10403/retinitis-pigmentosa-36 owl:Class MONDO:0018480 biolink:NamedThing carcinoma of esophagus, salivary gland type tmpaxzxjjyw_mondo_relaxed.owl esophageal carcinoma, salivary gland type ICD10:C15.4|ICD10:C15.0|ICD10:C15.2|ICD10:C15.8|ICD10:C15.1|Orphanet:418945|UMLS:CN237468|ICD10:C15.3|ICD10:C15.5 owl:Class UBERON:0009752 biolink:NamedThing pancreas mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009625 biolink:NamedThing sacral nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033671 biolink:NamedThing spermatogenic failure 45 tmpaxzxjjyw_mondo_relaxed.owl SPGF45 OMIM:619094 owl:Class MONDO:0009344 biolink:NamedThing Hirschsprung disease-nail hypoplasia-dysmorphism syndrome Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988. tmpaxzxjjyw_mondo_relaxed.owl Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features|Al-Gazali-Donnai-Mueller syndrome|Hirschsprung disease with hypoplastic nails and dysmorphic facial features|Al Gazali-Donnai-Muller syndrome OMIM:235760|MESH:C535615|SCTID:721223002|Orphanet:2153|ICD10:Q43.1|GARD:0000584 owl:Class NCBITaxon:2732515 biolink:NamedThing Blubervirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100025 biolink:NamedThing epilepsy of infancy with migrating focal seizures This syndrome is characterized by onset of refractory focal seizures in the first year of life, with associated severe encephalopathy. Focal seizures arise independently in both hemispheres and can migrate from one cortical region to another randomly but consecutively in the same seizure. Seizures are often prolonged with episodes of status epilepticus. Prognosis is poor with severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children. tmpaxzxjjyw_mondo_relaxed.owl 2018-06-22 23:54:03+00:00 SCTID:733195008|UMLS:C4518639 owl:Class MONDO:0004436 biolink:NamedThing ovarian myxoid liposarcoma A liposarcoma that arises from the ovary and is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma. tmpaxzxjjyw_mondo_relaxed.owl ovary myxoid liposarcoma|myxoid liposarcoma of ovary|ovarian myxoid liposarcoma|myxoid liposarcoma of the ovary NCIT:C5235|UMLS:C1335170|DOID:8023 owl:Class GO:0060348 biolink:NamedThing bone development The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001697 biolink:NamedThing reading disorder A learning disability involving difficulty reading resulting primarily from neurological factors which affect any part of the reading process. tmpaxzxjjyw_mondo_relaxed.owl ICD9:315.00|DOID:13365|SCTID:52824009|ICD9:315.09 owl:Class GO:0010608 biolink:NamedThing posttranscriptional regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014298 biolink:NamedThing chromosome 5q12 deletion syndrome PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. tmpaxzxjjyw_mondo_relaxed.owl chromosome 5q12 deletion syndrome|PDE4D haploinsufficiency syndrome DOID:0060421|Orphanet:439822|OMIM:615668|UMLS:C3810282 owl:Class UBERON:0002301 biolink:NamedThing layer of neocortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:26392 biolink:NamedThing PTCHD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010227 biolink:NamedThing retinitis pigmentosa 3 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RPGR gene. tmpaxzxjjyw_mondo_relaxed.owl cone-rod Degeneration, X-linked|retinitis pigmentosa caused by mutation in RPGR|retinitis pigmentosa 3|RP3|RPGR retinitis pigmentosa|Choroidoretinal Degeneration with retinal reflex in heterozygous Women|retinitis pigmentosa 15|retinitis pigmentosa type 3 GARD:0010381|UMLS:C1845667|MESH:C564520|ICD10:H35.5|Orphanet:791|OMIM:300029|DOID:0110414 owl:Class MONDO:0021203 biolink:NamedThing serous otitis media tmpaxzxjjyw_mondo_relaxed.owl secretory otitis media|SOM|otitis media with effusion SCTID:80327007 owl:Class HGNC:1932 biolink:NamedThing CHI3L1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016479 biolink:NamedThing silver-Russell syndrome due to 7p11.2p13 microduplication tmpaxzxjjyw_mondo_relaxed.owl Silver-Russell syndrome due to trisomy 7p11.2-p13|Silver-Russell syndrome due to 7p11.2-p13 microduplication|Silver-Russell syndrome due to dup(7)(p11.2p13)|Silver-Russell syndrome due to trisomy 7p11.2p13 ICD10:Q87.1|UMLS:CN201474|Orphanet:231137 owl:Class HP:0010987 biolink:NamedThing Abnormal cellular immune system morphology An abnormality of the morphology or counts of the cells that make up the immune system. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023612 peter 2011-02-08T12:49:47Z human_phenotype owl:Class HP:0032251 biolink:NamedThing Abnormal immune system morphology tmpaxzxjjyw_mondo_relaxed.owl 2019-01-27 16:44:33+00:00 peter human_phenotype owl:Class MONDO:0009015 biolink:NamedThing corneal dystrophy-perceptive deafness syndrome Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED) with progressive, postlingual sensorineural hearing loss. tmpaxzxjjyw_mondo_relaxed.owl corneal dystrophy with progressive deafness|Cdpd1|corneal dystrophy and sensorineural deafness|corneal dystrophy and perceptive deafness|Harboyan syndrome|congenital corneal dystrophy, progressive sensorineural deafness|CDPD GARD:0001529|UMLS:C1857572|Orphanet:1490|OMIM:217400|DOID:0111620|ICD10:H18.5|MESH:C535473|SCTID:720749004 owl:Class ECTO:7000083 biolink:NamedThing exposure to contaminated sediment A exposure event involving the interaction of an exposure receptor to chemically enriched sediment. tmpaxzxjjyw_mondo_relaxed.owl chemically enriched sediment exposure owl:Class MONDO:0100285 biolink:NamedThing extrahepatic biliary atresia A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. tmpaxzxjjyw_mondo_relaxed.owl EHBA|biliary atresia, extrahepatic OMIM:210500|UMLS:C4520983 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2663 owl:Class MONDO:0005705 biolink:NamedThing clonorchiasis Infection of the biliary passages with clonorchis sinensis, also called Opisthorchis sinensis. It may lead to inflammation of the biliary tract, proliferation of biliary epithelium, progressive portal fibrosis, and sometimes bile duct carcinoma. Extension to the liver may lead to fatty changes and cirrhosis. (From Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl Oriental liver fluke disease SCTID:11938002|EFO:0007210|ICD10:B66.1|MESH:D003003|DOID:13767|ICD9:121.1|UMLS:C0009021 owl:Class NCBITaxon:1933264 biolink:NamedThing California encephalitis orthobunyavirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CL:0007001 biolink:NamedThing skeletogenic cell Cell that has the potential to form a skeletal cell type (e.g. cells in periosteum, cells in marrow) and produce extracellular matrix (often mineralized) and skeletal tissue (often mineralized). tmpaxzxjjyw_mondo_relaxed.owl scleroblast Needs logical definition. Should be capable_of skeletal system morphogenesis? or skeletal tissue development? needs to be added to GO. NOTES:a cell type of the early embryo (see also: mesenchymal cells) that will give rise to mineralized connective tissue. Scleroblasts can differentiate into osteoblasts (bone-forming cells), chondroblasts (cartilage-forming cells), odontoblasts (dentin-forming cells), ameloblasts (enamel-forming cells). The mesenchymal cells developing into osteoblasts and chondroblasts are derived from the mesoderm. Those developing into odontoblasts are neural crest cells. Those developing into ameloblasts are derived from the ectoderm. (http://www.copewithcytokines.de/cope.cgi?key=scleroblasts) haendel 2012-06-15T02:51:27Z cell owl:Class MONDO:0009765 biolink:NamedThing ocular myopathy with curare sensitivity tmpaxzxjjyw_mondo_relaxed.owl ocular myopathy with curare sensitivity MESH:C564937|OMIM:257600|UMLS:C1850341 owl:Class MONDO:0003475 biolink:NamedThing papillary ependymoma A rare variant of ependymoma characterized by well formed papillae. Tumor cell processes abutting capillaries are usually GFAP-positive. Differential diagnoses include choroid plexus papilloma, papillary meningioma and metastatic papillary carcinoma. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl papillary ependymoma NCIT:C4319|DOID:5505|MESH:D004806|UMLS:C0334578|ICDO:9393/3 owl:Class GO:0019852 biolink:NamedThing L-ascorbic acid metabolic process The chemical reactions and pathways involving L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species. tmpaxzxjjyw_mondo_relaxed.owl vitamin C metabolism|L-ascorbic acid metabolism|vitamin C metabolic process|ascorbate metabolic process|ascorbate metabolism owl:Class MONDO:0003412 biolink:NamedThing retroperitoneal hemangiopericytoma A benign or malignant hemangiopericytoma arising from the retroperitoneum. tmpaxzxjjyw_mondo_relaxed.owl retroperitoneal space hemangiopericytoma NCIT:C5386|UMLS:C1335777|DOID:5373 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0004547 biolink:NamedThing reticular pattern testicular yolk sac tumor A yolk sac tumor that arises from the testis and is characterized by the presence of a meshwork of small vacuolated cells resulting in a honeycomb appearance. tmpaxzxjjyw_mondo_relaxed.owl testicular yolk Sac tumor, microcystic pattern|testicular yolk Sac tumor, reticular pattern UMLS:C1515308|NCIT:C39923|DOID:8392 owl:Class MONDO:0007770 biolink:NamedThing hyperpigmentation of Fuldauer and Kuijpers tmpaxzxjjyw_mondo_relaxed.owl hyperpigmentation of Fuldauer and Kuijpers OMIM:145200|MESH:C564164|UMLS:C1840393 owl:Class MONDO:0006043 biolink:NamedThing metaplastic breast carcinoma A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells. tmpaxzxjjyw_mondo_relaxed.owl breast metaplastic carcinoma|metaplastic breast carcinoma|metaplastic carcinoma of breast|metaplastic carcinoma of the breast|metaplastic breast cancer ICD10:C50.8|ICD10:C50.2|ICD10:C50.5|ONCOTREE:MBC|SCTID:763479005|ICD10:C50.4|UMLS:C1334708|ICD10:C50.1|ICD10:C50.3|NCIT:C5164|Orphanet:213531|GARD:0010804|ICD10:C50.6|ICD10:C50.0|DOID:4680|EFO:1000040 owl:Class MONDO:0006185 biolink:NamedThing ductal or ductular proliferation A morphologic finding indicating the presence of typical or atypical proliferation of biliary epithelial cells in the portal tracts of the liver. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C111786|EFO:1000222 Editor note: consider obsoleting owl:Class MONDO:0034142 biolink:NamedThing pancreatic agenesis-holoprosencephaly syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:556955 owl:Class MONDO:0054844 biolink:NamedThing pontocerebellar hypoplasia, type 1D tmpaxzxjjyw_mondo_relaxed.owl pontocerebellar hypoplasia, type 1D|PCH1D UMLS:CN252648|OMIM:618065 owl:Class MONDO:0018983 biolink:NamedThing tolosa-Hunt syndrome Tolosa-Hunt syndrome is an ophthalmoplegic syndrome, affecting all age groups, characterized by acute attacks (lasting a few days to a few weeks) of periorbital pain, ipsilateral ocular motor nerve palsies, ptosis, disordered eye movements and blurred vision usually caused by a non-specific inflammatory process in the cavernous sinus and superior orbital fissure. It has an unpredicatable course with spontaneous remission occurring in some and recurrence of attacks in others. tmpaxzxjjyw_mondo_relaxed.owl THS|painful ophthalmoplegia|tolosa Hunt syndrome|tolosa-Hunt syndrome|nonspecific inflammation of the cavernous sinus or superior orbital fissure ICD10:H49.8|UMLS:C0040381|Orphanet:64686|NCIT:C85193|MedDRA:10051526|DOID:1278|SCTID:95794005|GARD:0007777|MESH:D020333|UMLS:CN205421|UMLS:C0392060 https://rarediseases.info.nih.gov/diseases/7777/tolosa-hunt-syndrome owl:Class MONDO:0054602 biolink:NamedThing gaze palsy, familial horizontal, with progressive scoliosis, 2 tmpaxzxjjyw_mondo_relaxed.owl HGPPS2|gaze palsy, familial horizontal, with progressive scoliosis, 2 UMLS:C4479640|OMIM:617542 owl:Class MONDO:0020764 biolink:NamedThing Brown-Pearce carcinoma tmpaxzxjjyw_mondo_relaxed.owl Brown-Pearce epithelioma|Brown-Pearce carcinoma|Brown-Pearce tumor|carcinoma, Brown-Pearce|epithelioma, Brown Pearce|carcinoma, Brown Pearce|epithelioma, Brown-Pearce EFO:1001278|UMLS:C0007122|MESH:D002284 owl:Class CHEBI:33703 biolink:NamedThing amino-acid cation tmpaxzxjjyw_mondo_relaxed.owl amino acid cation|amino-acid cation|amino-acid cations owl:Class MONDO:0012607 biolink:NamedThing asthma-related traits, susceptibility to, 5 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the IRAK3 gene. tmpaxzxjjyw_mondo_relaxed.owl asthma-related traits, susceptibility to, 5|inherited susceptibility to asthma caused by mutation in IRAK3|asthma-related traits, susceptibility to, type 5|ASRT5|IRAK3 inherited susceptibility to asthma OMIM:611064 owl:Class HGNC:4193 biolink:NamedThing GCH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:68452 biolink:NamedThing azole Any monocyclic heteroarene consisting of a five-membered ring containing nitrogen. Azoles can also contain one or more other non-carbon atoms, such as nitrogen, sulfur or oxygen. tmpaxzxjjyw_mondo_relaxed.owl azoles owl:Class HGNC:17652 biolink:NamedThing PORCN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030916 biolink:NamedThing intellectual disability, autosomal dominant 50 tmpaxzxjjyw_mondo_relaxed.owl MRD50|autosomal dominant intellectual disability 50|autosomal dominant mental retardation 50|intellectual disability, autosomal dominant 50|mental retardation, autosomal dominant 50 UMLS:CN671930|OMIM:617787|DOID:0080233 owl:Class MONDO:0003989 biolink:NamedThing polyembryoma of the ovary A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos. tmpaxzxjjyw_mondo_relaxed.owl ovarian polyembryoma|polyembryoma UMLS:C1514199|ONCOTREE:OPE|DOID:6774|NCIT:C39990 owl:Class MONDO:0015863 biolink:NamedThing polyembryoma Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known. tmpaxzxjjyw_mondo_relaxed.owl gonadal polyembryoma NCIT:C66776|GARD:0009621|Orphanet:180229|UMLS:C0334518 https://rarediseases.info.nih.gov/diseases/9621/polyembryoma owl:Class MONDO:0017423 biolink:NamedThing split hand or/and split foot malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:294935|ICD10:Q72.7|ICD10:Q71.6 Editor note: Orphanet has this under terminal limb defects (which is a type of non-syndromic defect) which leads to inconsistency when placing syndromic forms (e.g. SHF1 with sensorienural hearing loss) owl:Class MONDO:0004523 biolink:NamedThing clear cell squamous cell skin carcinoma A squamous cell carcinoma of the skin with a prominent clear cell component. tmpaxzxjjyw_mondo_relaxed.owl clear cell squamous cell skin carcinoma|clear cell squamous cell carcinoma of the skin|clear cell squamous cell carcinoma of skin DOID:8288|SCTID:254652000|NCIT:C4459|UMLS:C0345978 owl:Class HP:0100598 biolink:NamedThing Pulmonary edema Fluid accumulation in the lungs. tmpaxzxjjyw_mondo_relaxed.owl Pulmonary oedema|Lung edema|Wet lung|Lung oedema|Excess fluid in lungs UMLS:C0034063|MSH:D011654|SNOMEDCT_US:19242006 doelkens 2010-12-27T05:10:09Z human_phenotype owl:Class MONDO:0010854 biolink:NamedThing Toriello-Lacassie-Droste syndrome Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital. tmpaxzxjjyw_mondo_relaxed.owl oes|oculoectodermal syndrome|Toriello Lacassie Droste syndrome|aplasia cutis congenita-epibulbar dermoids syndrome|oculo-ectodermal syndrome|aplasia cutis congenita with epibulbar dermoids OMIM:600268|MESH:C563969|DOID:0111705|SCTID:723554006|GARD:0010366|Orphanet:3339|UMLS:C1838329 owl:Class MONDO:0100372 biolink:NamedThing disorder of peroxisomal transporter Any peroxisomal single enzyme/protein defect that disrupts peroxisomal transport. tmpaxzxjjyw_mondo_relaxed.owl disorder of peroxisomal transporter defect http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HGNC:10799 biolink:NamedThing SFTPA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048729 biolink:NamedThing tissue morphogenesis The process in which the anatomical structures of a tissue are generated and organized. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0004363 biolink:NamedThing Abnormal circulating calcium concentration Any deviation from the normal concentration of calcium in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl Abnormal blood calcium levels|Abnormal blood calcium concentration|Abnormal circulating Ca concentration|Abnormal circulating Ca2+ concentration peter 2008-03-17T04:15:00Z HP:0040077 human_phenotype owl:Class MONDO:0022428 biolink:NamedThing aluminosis Aluminosis is characterized as diffuse interstitial fibrosis which is mainly located in the upper and middle lobes of the lung. In advanced stages it is characterized by subpleural bullous emphysema with an increased risk of spontaneous pneumothorax. tmpaxzxjjyw_mondo_relaxed.owl pulmonary aluminosis|aluminium lung|aluminosis of lung UMLS:C0311227|GARD:0008357|SCTID:90623003 https://rarediseases.info.nih.gov/diseases/8357/aluminium-lung owl:Class MONDO:0004343 biolink:NamedThing pancreatic acinar cell cystadenocarcinoma A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course. tmpaxzxjjyw_mondo_relaxed.owl acinar cell cystadenocarcinoma|acinar cell cystadenocarcinoma (morphologic abnormality)|acinar cell cystadenocarcinoma of pancreas|pancreatic acinar cell cystadenocarcinoma|acinar cell cystadenocarcinoma of the pancreas NCIT:C5727|NCIT:C3874|ICDO:8551/3|DOID:7729|UMLS:C1266087 owl:Class MONDO:0032893 biolink:NamedThing pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures tmpaxzxjjyw_mondo_relaxed.owl PAMDDFS|PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES OMIM:618737 owl:Class MONDO:0032590 biolink:NamedThing ovarian dysgenesis 8 tmpaxzxjjyw_mondo_relaxed.owl OVARIAN DYSGENESIS 8|ODG8 OMIM:618187|DOID:0080500 owl:Class MONDO:0011275 biolink:NamedThing acromesomelic dysplasia, Maroteaux type A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. tmpaxzxjjyw_mondo_relaxed.owl acromesomelic dysplasia, Maroteaux type|acromesomelic dysplasia Maroteaux type|St. Helena dysplasia|AMDM|acromesomelic dwarfism Maroteux type GARD:0000507|DOID:0080050|ICD10:Q77.8|SCTID:718559000|OMIM:602875|MESH:C535661|Orphanet:40 https://rarediseases.info.nih.gov/diseases/507/acromesomelic-dysplasia-maroteaux-type owl:Class MONDO:0004417 biolink:NamedThing nested variant infiltrating bladder urothelial carcinoma tmpaxzxjjyw_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, nested variant NCIT:C39819|DOID:7969|UMLS:C1512741 owl:Class ECTO:9002148 biolink:NamedThing exposure to polycyclic hydrocarbon An exposure to polycyclic hydrocarbon. tmpaxzxjjyw_mondo_relaxed.owl exposure to polycyclic hydrocarbon owl:Class MONDO:0012772 biolink:NamedThing Stevenson-Carey syndrome tmpaxzxjjyw_mondo_relaxed.owl Stevenson-Carey syndrome OMIM:611961|MESH:C567446|UMLS:C2677763 owl:Class MONDO:0007074 biolink:NamedThing ainhum Spontaneous autoamputation of a digit, usually the fifth toe. It results from the formation of a fibrotic band which constricts the full radius of the digit and eventually causes the spontaneous autoamputation. tmpaxzxjjyw_mondo_relaxed.owl Dactylolysis spontanea|spontaneous dactylolysis|ainhum|Dactylolysis|ainhum (disease) ainhum (disease) DOID:11329|GARD:0009512|OMIM:103400|SCTID:38528001|NCIT:C84544|MESH:D000387|UMLS:C0001860|ICD10:L94.6|HP:0031009|ICD9:136.0 https://github.com/monarch-initiative/mondo/issues/3605 owl:Class MONDO:0008017 biolink:NamedThing hereditary mucoepithelial dysplasia A condition that affects the skin, hair, mucosa (areas ofthe body that are lined with mucus), gums (gingiva), eyes, nose and lungs. Symptoms typically begin in infancy and may include development of cataracts (clouding of the eye lens); blindness; hair loss (alopecia); abnormal changes to the perineum (the area between the anus and external genitalia); and small, skin-colored bumps (keratosis pilaris). Terminal lung disease has also been reported. The cause of HMD is thought to be an abnormality in desmosomes and gap junctions, which are structures involved in cell-to-cell contact. HMD typically follows autosomal dominant inheritance, but has occurred sporadically (in an individual who has no family history of the condition). Treatment typically focuses on individual symptoms of the condition. tmpaxzxjjyw_mondo_relaxed.owl Urban-Schosser-Spohn syndrome|HMD|mucoepithelial dysplasia, hereditary OMIM:158310|GARD:0005427|SCTID:403442005|ICD9:478.79|Orphanet:1839|MESH:C536476 https://rarediseases.info.nih.gov/diseases/5427/hereditary-mucoepithelial-dysplasia owl:Class MONDO:0010093 biolink:NamedThing syndesmodysplasic dwarfism tmpaxzxjjyw_mondo_relaxed.owl syndesmodysplasic dwarfism Orphanet:2654|OMIM:272450|UMLS:C2931647|MESH:C537869 owl:Class MONDO:0043183 biolink:NamedThing podder-tolmie syndrome tmpaxzxjjyw_mondo_relaxed.owl meningoencephalocele, arthrogryposis and hypoplastic thumbs GARD:0004387|MESH:C537518|UMLS:C2931519 owl:Class MONDO:0019969 biolink:NamedThing panner disease Panner's disease is an osteochondrosis of the capitellum of the humerus, characterised by involvement of the dominant upper limb and onset before the age of 10 years. It results from lateral compression injuries of the elbow typically occurring in children practising sports such as baseball and throw. It should be distinguished from osteochondritis dissecans of the capitellum, occurring later, in adolescents. Management is symptomatic and consists in reducing the activities of the affected elbow for a prolonged period of time. Prognosis is good. tmpaxzxjjyw_mondo_relaxed.owl Osteochondrosis of the capital humerus|aseptic necrosis of the capital humerus UMLS:CN206896|ICD10:M92.0|Orphanet:97336 owl:Class MONDO:0005177 biolink:NamedThing serous cystadenoma A serous neoplasm in which the cysts and papillae are lined by a single layer of cells without atypia, architectural complexity or invasion. tmpaxzxjjyw_mondo_relaxed.owl serous cystoma|serous cystadenoma EFO:0002504|NCIT:C3783|ICDO:8441/0 owl:Class MONDO:0014955 biolink:NamedThing retinal dystrophy with or without extraocular anomalies tmpaxzxjjyw_mondo_relaxed.owl retinal dystrophy with or without extraocular anomalies|retinal dystrophy with or without extraocular anomalies; RDEOA|RDEOA UMLS:C4310680|OMIM:617175 owl:Class NCBITaxon:8782 biolink:NamedThing Aves tmpaxzxjjyw_mondo_relaxed.owl avian|birds GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:436492 biolink:NamedThing Coelurosauria tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5234 biolink:NamedThing Tremellales tmpaxzxjjyw_mondo_relaxed.owl jelly fungi PMID:17572334|GC_ID:1 NCBITaxon:34476|NCBITaxon:106739|NCBITaxon:165809 ncbi_taxonomy owl:Class MONDO:0006266 biolink:NamedThing Leydig cell tumor A sex cord-stromal tumor occurring in the testis and rarely in the ovary. It is predominantly or completely composed of Leydig cells which may contain crystals of Reinke. In males it usually presents as a painless testicular enlargement and it may be associated with gynecomastia and decreased libido. The majority of the cases have a benign clinical course. Approximately 10% of the cases have a malignant clinical course and metastasize. In females it may be associated with androgenic manifestations and it follows a benign clinical course. tmpaxzxjjyw_mondo_relaxed.owl interstitial cell tumor|Leydig cell tumor, undetermined|Leydig cell neoplasm|Leydig cell tumor|interstitial cell neoplasm NCIT:C3188|UMLS:C0023601|EFO:1000321|DOID:2696|ICDO:8650/1|MESH:D007984 Editor notes: Adding an axiom to this to localize to leydig cell entails equivalence with testicular leydig cell tumor owl:Class HGNC:1494 biolink:NamedThing ALX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007863 biolink:NamedThing Kleine-Levin syndrome Kleine-Levin syndrome (KLS) is a rare neurological disorder of unknown origin characterised by relapsing-remitting episodes of hypersomnia in association with cognitive and behavioural disturbances. tmpaxzxjjyw_mondo_relaxed.owl Kleine-LEVIN hibernation syndrome|familial hibernation syndrome|Kleine-Levin syndrome|familial Kleine-Levin syndrome|Kleine Levin syndrome UMLS:C0206085|SCTID:111488004|NCIT:C84800|GARD:0003117|EFO:1001354|MESH:D017593|DOID:0060165|ICD10:G47.8|MedDRA:10053712|Orphanet:33543|OMIM:148840 https://rarediseases.info.nih.gov/diseases/3117/kleine-levin-syndrome owl:Class ECTO:0000979 biolink:NamedThing exposure to temperature of environmental surroundings A exposure event involving the interaction of an exposure receptor to temperature of environmental material. tmpaxzxjjyw_mondo_relaxed.owl temperature of environmental material exposure owl:Class HGNC:2025 biolink:NamedThing CLCN7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009599 biolink:NamedThing metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl metaphyseal dysostosis intellectual disability conductive deafness|metaphyseal dysostosis mental retardation conductive deafness|metaphyseal dysostosis, conductive hearing loss and mental retardation|metaphyseal dysostosis, conductive hearing loss and intellectual disability|metaphyseal dysostosis, mental retardation, and conductive deafness|metaphyseal dysostosis, intellectual disability, and conductive deafness ICD10:Q78.5|OMIM:250420|MESH:C565396|UMLS:C1855175|Orphanet:2502|GARD:0003566 https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-mental-retardation-conductive-deafness owl:Class HGNC:23038 biolink:NamedThing LMBRD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008028 biolink:NamedThing muscular dystrophy, Barnes type tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, Barnes type OMIM:158800|MESH:C563558|UMLS:C1834688 owl:Class MONDO:0010922 biolink:NamedThing Satoyoshi syndrome Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system. tmpaxzxjjyw_mondo_relaxed.owl Komuragaeri disease|muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities|muscle spasms, intermittent, with alopecia, diarrhea, and skeletal abnormalities|Satoyoshi syndrome Orphanet:3130|OMIM:600705|MedDRA:10070579|UMLS:C1833454|SCTID:763630007|MESH:C536616|GARD:0000160 https://rarediseases.info.nih.gov/diseases/160/satoyoshi-syndrome owl:Class NCBITaxon:41011 biolink:NamedThing Tineoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:98969 ncbi_taxonomy owl:Class NCBITaxon:37567 biolink:NamedThing Ditrysia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008123 biolink:NamedThing autosomal dominant omodysplasia Autosomal dominant form of omodysplasia. tmpaxzxjjyw_mondo_relaxed.owl OMOD2|omodysplasia 2|omodysplasia, autosomal dominant ICD10:Q78.8|Orphanet:2733|OMIM:164745|SCTID:725165009|MESH:C567664|Orphanet:93328|GARD:0003643 owl:Class CHEBI:15339 biolink:NamedThing acceptor A molecular entity that can accept an electron, a pair of electrons, an atom or a group from another molecular entity. tmpaxzxjjyw_mondo_relaxed.owl accepteur|A|Acceptor|Oxidized donor|Akzeptor|Hydrogen-acceptor owl:Class MONDO:0016780 biolink:NamedThing paternal 14q32.2 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl paternal monosomy 14q32.2|paternal del(14)(q32.2) UMLS:CN202036|Orphanet:254525|ICD10:Q93.5 owl:Class MONDO:0019472 biolink:NamedThing extranodal nasal NK/T cell lymphoma Extranodal nasal NK/T cell lymphoma (NKTCL) is a rare, malignant neoplasm mainly affecting men in the fifth decade of life, that usually arises in the nose, paranasal sinuses, orbits or upper airway, and that can present with a nasal mass, nasal bleeding, nasal obstruction, palate perforation (i.e. midline perforation of the hard palate), and mid-facial and/or upper airway destructive lesions. In advanced disease stages, which are associated with a poor prognosis, NKTCL may disseminate to other organs. A few cases of NKTCL presenting primarily in the lymph nodes have also been described. tmpaxzxjjyw_mondo_relaxed.owl nasal type Extranodal NK/T-cell lymphoma|Extranodal NK/T-cell lymphoma, nasal type|angiocentric T-cell lymphoma|reticulosis, malignant|nasal T/natural killer-cell lymphoma|NKTCL|NK/T-cell lymphoma|Extranodal NK/T lymphoma-nasal|lethal midline granuloma UMLS:C0392788|NCIT:C4684|ICD10:C86.0|MedDRA:10065855|ICDO:9719/3|GARD:0013270|Orphanet:86879 owl:Class HGNC:25897 biolink:NamedThing MFSD2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002888 biolink:NamedThing intraorbital meningioma A meningioma that affects the intraorbital structures. tmpaxzxjjyw_mondo_relaxed.owl intraorbital meningioma UMLS:C1334261|NCIT:C6778|MESH:D008579|DOID:4141 owl:Class MONDO:0060752 biolink:NamedThing neurodevelopmental disorder with spasticity and poor growth tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with spasticity and poor growth|NEDSG OMIM:618076 owl:Class CHEBI:36735 biolink:NamedThing biladienes Compounds based on a biladiene skeleton. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014321 biolink:NamedThing premature ovarian failure 8 Any primary ovarian failure in which the cause of the disease is a mutation in the STAG3 gene. tmpaxzxjjyw_mondo_relaxed.owl premature ovarian failure type 8|premature ovarian failure 8|STAG3 primary ovarian failure|POF8|primary ovarian failure caused by mutation in STAG3 OMIM:615723|UMLS:C3810367 owl:Class MONDO:0000859 biolink:NamedThing spina bifida occulta The mildest form of spina bifida, characterized by any of several neural tube defects which may go undetected until an x-ray is performed. Treatment is symptomatic. tmpaxzxjjyw_mondo_relaxed.owl spina bifida occulta (disease)|spina bifida occulta spina bifida occulta (disease) MESH:D016136|NCIT:C101044|ICD9:756.17|DOID:0080073|SCTID:76916001|HP:0003298 owl:Class MONDO:0016687 biolink:NamedThing protoplasmic astrocytoma A rare variant of diffuse astrocytoma. It is predominantly composed of neoplastic astrocytes showing a small cell body with few, flaccid processes with a low content of glial filaments and scant GFAP expression. This lesion is not well defined and is considered by some authors as an occasional histopathological feature rather than a reproducibly identifiable variant. When occurring in children, this neoplasm may be difficult to separate from pilocytic juvenile astrocytoma. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl protoplasmic astrocytic tumor|protoplasmic astrocytoma|protoplasmic astrocytoma (morphologic abnormality) MESH:D001254|Orphanet:251598|UMLS:C0334580|ICD10:C71.9|NCIT:C4320|ICDO:9410/3|DOID:7008 owl:Class MONDO:0004784 biolink:NamedThing allergic asthma A asthma with a basis in a pathological type I hypersensitivity reaction. tmpaxzxjjyw_mondo_relaxed.owl extrinsic asthma with status asthmaticus|atopic asthma|extrinsic asthma with acute exacerbation|allergic form of asthma SCTID:389145006|ICD9:493.0|DOID:9415|ICD10:J45|UMLS:C0155877 owl:Class MONDO:0003342 biolink:NamedThing benign perivascular tumor A benign mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels. tmpaxzxjjyw_mondo_relaxed.owl benign perivascular neoplasm|benign pericytic neoplasm|benign Pericytic tumor|benign perivascular tumor|pericytic neoplasm, benign|benign Pericytic neoplasm UMLS:C1332532|NCIT:C6529|DOID:5238 owl:Class HGNC:11079 biolink:NamedThing SLC9A6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010014 biolink:NamedThing craniometadiaphyseal dysplasia, wormian bone type Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. tmpaxzxjjyw_mondo_relaxed.owl CRANIOMETADIAPHYSEAL dysplasia|CRMDD|Schwartz-Lelek syndrome SCTID:278833002|ICD10:Q78.8|OMIM:269300|Orphanet:85184 OMIM obsoleted 615118 and moved this to 269300 then renamed 269300 to what 615118 was called and did not retain as a synonym the old name of 269300. I merged these and swapped the name and synonym to retain the information - smb. owl:Class HP:0001804 biolink:NamedThing Hypoplastic fingernail Underdevelopment of a fingernail. tmpaxzxjjyw_mondo_relaxed.owl Small fingernail|Underdeveloped fingernail UMLS:C1856786 human_phenotype owl:Class HP:0001792 biolink:NamedThing Small nail A nail that is diminished in length and width, i.e., underdeveloped nail. tmpaxzxjjyw_mondo_relaxed.owl Nail hypoplasia|Hypoplastic nails|Small nails|Small nail|Hypoplastic nail UMLS:C0263523|SNOMEDCT_US:11375002 HP:0001813 human_phenotype owl:Class UBERON:0005837 biolink:NamedThing fasciculus of spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008043 biolink:NamedThing myoclonus-cerebellar ataxia-deafness syndrome This syndrome is characterised by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. tmpaxzxjjyw_mondo_relaxed.owl myoclonus cerebellar ataxia deafness|myoclonus, cerebellar ataxia, and deafness Orphanet:2589|UMLS:C1834579|MESH:C563549|ICD10:G11.1|OMIM:159800|GARD:0003873 owl:Class MONDO:0032843 biolink:NamedThing oculopharyngeal myopathy with leukoencephalopathy 1 tmpaxzxjjyw_mondo_relaxed.owl OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1|OPML1 OMIM:618637 owl:Class MONDO:0043355 biolink:NamedThing collagenous gastritis A rare type of gastritis characterized by gastric subepithelial collagen deposition and inflammatory infiltrates in the lamina propria. The pathogenesis of this disorder is unclear although an association with autoimmune disorders has been reported. It affects both children and adults. Children present with iron deficiency anemia and have a nodular stomach on gastroscopy. adults present with chronic watery diarrhea and may have an associated collagenous colitis. tmpaxzxjjyw_mondo_relaxed.owl collagenous gastritis UMLS:C4040043|NCIT:C122082|GARD:0010961|SCTID:711499009 owl:Class HGNC:17341 biolink:NamedThing TRNT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2752537 biolink:NamedThing Talaromyces sect. Talaromyces tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5094 biolink:NamedThing Talaromyces tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014643 biolink:NamedThing congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl BASEL-Vanagaite-SMIRIN-YOSEF syndrome|BVSYS Orphanet:464738|OMIM:616449|UMLS:C4225323 owl:Class MONDO:0002475 biolink:NamedThing lacrimal gland adenocarcinoma A carcinoma that arises from glandular epithelial cells of the lacrimal gland tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of the lacrimal gland|lacrimal gland adenocarcinoma|adenocarcinoma of lacrimal gland UMLS:C0346341|SCTID:254988008|NCIT:C4541|DOID:298 owl:Class MONDO:0017807 biolink:NamedThing growing teratoma syndrome A condition characterized by the presence of a growing mature teratoma in a patient during or after chemotherapy for a non-seminomatous germ cell tumor, with normal serum markers for human chorionic gonadotropin and alpha fetoprotein. Complete surgical resection is the preferred treatment. tmpaxzxjjyw_mondo_relaxed.owl GTS UMLS:CN203773|NCIT:C118370|UMLS:C3891714|Orphanet:314613 owl:Class MONDO:0600008 biolink:NamedThing cytokine release syndrome A syndrome that occurs after therapeutic infusion of antibodies into the blood and is characterized by nausea, headache, tachycardia, hypotension, rash, and shortness of breath. It is caused by the release of cytokines from the cells that are targeted by the antibodies. Most patients experience a mild to moderate reaction; however, the reaction may be severe and life-threatening. tmpaxzxjjyw_mondo_relaxed.owl cytokine storm|CRS|cytokine-associated toxicity NCIT:C78251 http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0017802 biolink:NamedThing ovarian fibrothecoma A rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad). tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203762|ICD10:D27|Orphanet:314478|SCTID:765190005 owl:Class CHEBI:36047 biolink:NamedThing antibacterial drug A drug used to treat or prevent bacterial infections. tmpaxzxjjyw_mondo_relaxed.owl antibacterial drugs owl:Class MONDO:0009722 biolink:NamedThing Bailey-Bloch congenital myopathy Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia. tmpaxzxjjyw_mondo_relaxed.owl myopathy, congenital, with cleft palate and malignant hyperthermia|congenital myopathy-cleft palate-malignant hyperthermia syndrome|NAM|Native American myopathy|Bailey-Bloch congenital myopathy|congenital myopathy cleft palate and malignant hyperthermia|congenital myopathy - cleft palate - malignant hyperthermia|STAC3 disorder SCTID:723439002|GARD:0008432|MESH:C538343|OMIM:255995|Orphanet:168572|ICD10:G71.2|DOID:0060346|UMLS:C1850625 https://github.com/monarch-initiative/mondo/issues/1377 owl:Class MONDO:0024519 biolink:NamedThing renal hypodysplasia/aplasia 1 tmpaxzxjjyw_mondo_relaxed.owl hereditary renal aplasia|RHDA1|renal adysplasia|renal aplasia|Selig Benacerraf Greene syndrome|renal agenesis|renal hypodysplasia/aplasia 1|renal dysplasia, megalocystis, and sirenomelia OMIM:191830|Orphanet:411709|GARD:0004791 owl:Class MONDO:0001006 biolink:NamedThing glaucomatous atrophy of optic disc tmpaxzxjjyw_mondo_relaxed.owl glaucomatous atrophy [cupping] of optic disc ICD10:H47.23|DOID:10337|ICD9:377.14|SCTID:1207009|UMLS:C0271342 owl:Class MONDO:0017071 biolink:NamedThing thoracolumbosacral spina bifida cystica tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268752 owl:Class MONDO:0001319 biolink:NamedThing bladder lateral wall cancer tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of lateral wall of urinary bladder NCIT:C12333|UMLS:C0496828|ICD9:188.2|DOID:11593|SCTID:188241004|ICD10:C67.2 Lateral Wall of bladder owl:Class UBERON:0005658 biolink:NamedThing secondary palatal shelf epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021726 biolink:NamedThing abdominal cystic lymphangioma Abdominal cystic lymphangioma is a benign (noncancerous) malformation of the lymphatic vessels in the abdomen. These vessels carry lymph, a fluid that contains white blood cells that fight infection, throughout the body. The severity of the condition and the associated features vary from person to person. When present, signs and symptoms may include abdominal pain, an increase in waist circumference, an abdominal mass, intestinal obstruction, and/or volvulus (a twisting of the intestines). The cause of abdominal cystic lymphangioma is poorly understood; however, scientists suspect that it is a congenital anomaly. Most cases are diagnosed in people with no family history of the condition. Treatment varies based on the severity of the condition. People with small malformations that do not cause any symptoms may simply be followed with regular imaging studies to monitor for progression. Some of these cases may resolve spontaneously without treatment. When necessary, surgical excision is often the treatment of choice since it is associated with the lowest risk of recurrence.. tmpaxzxjjyw_mondo_relaxed.owl retroperitoneal cystic lymphangioma|abdominal retroperitoneal lymphangioma|RCL|abdomen cystic lymphangioma MESH:C535553|GARD:0000439|UMLS:C2930929 https://rarediseases.info.nih.gov/diseases/439/abdominal-cystic-lymphangioma owl:Class MONDO:0020513 biolink:NamedThing spermatocytic seminoma A rare variant of seminoma characterized by the presence of three cell types: round cells with eosinophilic cytoplasm, small cells with dark nucleus and a small amount of cytoplasm, and mono-or multinucleated giant cells. The neoplastic cells are not cohesive. There is an edematous stroma present; lymphocytic infiltrates are rarely seen. Most patients are older males. tmpaxzxjjyw_mondo_relaxed.owl spermatocytic seminoma|spermatocytoma|testicular spermatocytic seminoma OMIM:273300|ICDO:9063/3|Orphanet:99865|DOID:5834|UMLS:C0334517|NCIT:C39921|ICD10:C62.9|DOID:7891 owl:Class CHEBI:37134 biolink:NamedThing elemental barium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045927 biolink:NamedThing positive regulation of growth Any process that activates or increases the rate or extent of growth, the increase in size or mass of all or part of an organism. tmpaxzxjjyw_mondo_relaxed.owl upregulation of growth|up-regulation of growth|up regulation of growth|activation of growth|stimulation of growth owl:Class MONDO:0009009 biolink:NamedThing hypoplasminogenemia Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing. tmpaxzxjjyw_mondo_relaxed.owl plasminogen deficiency type 1|plasminogen deficiency, type I|Dysplasminogenemia|plasminogen deficiency, type 1|ligneous conjunctivitis|plasminogen deficiency, type 2|type 1 plasminogen deficiency|hypoplasminogenemia UMLS:C0398621|OMIM:217090|UMLS:C1968804|Orphanet:722|ICD10:L90.5|GARD:0004380|MESH:C580017|SCTID:95840007 owl:Class MONDO:0013750 biolink:NamedThing atrial septal defect 8 Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene. tmpaxzxjjyw_mondo_relaxed.owl atrial heart septal defect caused by mutation in CITED2|ASD8|atrial septal defect type 8|atrial heart septal defect type 8|atrial septal defect 8|CITED2 atrial heart septal defect Orphanet:1478|OMIM:614433|DOID:0110113|ICD10:Q21.1 owl:Class MONDO:0010360 biolink:NamedThing parkinson disease 12 tmpaxzxjjyw_mondo_relaxed.owl Parkinson disease 12|PARK12|Parkinson disease, X-linked Orphanet:2828|UMLS:C1845165|MESH:C564486|OMIM:300557 owl:Class MONDO:0003534 biolink:NamedThing papillary thymic adenocarcinoma A rare primary thymic adenocarcinoma, characterized by a papillary growth pattern. There are only a few published cases, and no good data regarding prognosis. tmpaxzxjjyw_mondo_relaxed.owl papillary carcinoma of the Thymus|Thymus papillary carcinoma|thymic papillary adenocarcinoma|thymus papillary adenocarcinoma|papillary carcinoma of Thymus|thymic papillary carcinoma UMLS:C1335327|DOID:5595|NCIT:C27937 owl:Class MONDO:0022795 biolink:NamedThing deficiency of coenzyme q cytochrome c reductase tmpaxzxjjyw_mondo_relaxed.owl coenzyme Q cytochrome c reductase deficiency of GARD:0001419 https://rarediseases.info.nih.gov/diseases/1419/coenzyme-q-cytochrome-c-reductase-deficiency-of owl:Class NCBITaxon:39744 biolink:NamedThing Rubulavirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0041959 biolink:NamedThing fibrosis of bile duct tmpaxzxjjyw_mondo_relaxed.owl biliary sclerosis|fibrosis of bile duct|biliary duct fibrosis UMLS:C0520571|SCTID:48124008 owl:Class MONDO:0016497 biolink:NamedThing paraparetic variant of Guillain-Barre syndrome Paraparetic variant of Guillain-Barré syndrome is a rare variant of Guillain-Barré syndrome characterized by isolated leg weakness, areflexia and radicular leg pain that may simulate a cauda equina or spinal cord syndrome. The arms, ocular, facial, and oropharyngeal muscles are spared, and sphincteric function is normal. tmpaxzxjjyw_mondo_relaxed.owl paraparetic variant of Guillain-Barré syndrome|paraparetic variant of GBS UMLS:CN201500|ICD10:G61.0|Orphanet:231445 owl:Class MONDO:0005097 biolink:NamedThing squamous cell lung carcinoma A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma. tmpaxzxjjyw_mondo_relaxed.owl epidermoid cell lung carcinoma|squamous cell lung cancer|squamous cell carcinoma of lung|lung squamous cell carcinoma|epidermoid cell carcinoma of lung|epidermoid cell carcinoma of the lung|squamous cell lung carcinoma|squamous cell carcinoma of the lung SCTID:254634000|EFO:0000708|NCIT:C3493|ICD9:162.9|ONCOTREE:LUSC|DOID:3907|UMLS:C0149782 In DO this is classified as nscLC, but this leads to logical issues as we have a distinct class for squamous nscLC owl:Class MONDO:0011156 biolink:NamedThing progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome. tmpaxzxjjyw_mondo_relaxed.owl cholestasis, progressive familial intrahepatic, 2|ABCB11 progressive familial intrahepatic cholestasis|progressive familial intrahepatic cholestasis type 2|BSEP deficiency|cholestasis, progressive familial intrahepatic, type 2|PFIC2|severe ABCB11 deficiency|progressive familial intrahepatic cholestasis caused by mutation in ABCB11 ICD10:K76.8|GARD:0001288|OMIM:615878|OMIM:601847|MESH:C535934|Orphanet:172|Orphanet:79304|DOID:0070222|UMLS:CN205889 https://rarediseases.info.nih.gov/diseases/1288/progressive-familial-intrahepatic-cholestasis-type-2 owl:Class MONDO:0032641 biolink:NamedThing mirror movements 4 tmpaxzxjjyw_mondo_relaxed.owl MIRROR MOVEMENTS 4|MRMV4 OMIM:618264 owl:Class MONDO:0004799 biolink:NamedThing ulcerative blepharitis tmpaxzxjjyw_mondo_relaxed.owl ICD10:H01.01|DOID:9483|ICD9:373.01|UMLS:C0155173|SCTID:91662004 owl:Class MONDO:0006837 biolink:NamedThing low tension glaucoma A form of glaucoma in which chronic optic nerve damage and loss of vision normally attributable to buildup of intraocular pressure occurs despite prevailing conditions of normal intraocular pressure. tmpaxzxjjyw_mondo_relaxed.owl low tension Glaucomas|glaucoma, Low tension|glaucoma, normal tension|normal tension glaucoma|Glaucomas, normal tension|tension glaucoma, Low|tension glaucoma, normal|Glaucomas, Low tension|normal tension Glaucomas|tension Glaucomas, Low|tension Glaucomas, normal ICD10:H40.12|DOID:13544|ICD9:365.12|MedDRA:10024931|UMLS:C0152136|SCTID:50485007|EFO:1001022|MESH:D057066 owl:Class MONDO:0013267 biolink:NamedThing distal 16p11.2 microdeletion syndrome Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. tmpaxzxjjyw_mondo_relaxed.owl chromosome 16p11.2 deletion syndrome, 220kb|chromosome 16p11.2 deletion syndrome, 220-KB|body Mass index quantitative trait locus 16|chromosome 16p11.2 deletion syndrome, type 220kb|distal del(16)(p11.2)|obesity, susceptibility to|distal monosomy 16p11.2|distal 16p11.2 microdeletion syndrome UMLS:C4518824|UMLS:C3150701|ICD10:Q93.5|SCTID:733521003|OMIM:613444|DOID:0060398|Orphanet:261222 owl:Class GO:0036211 biolink:NamedThing protein modification process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). tmpaxzxjjyw_mondo_relaxed.owl protein modification owl:Class MONDO:0020787 biolink:NamedThing hypomagnesemia, seizures, and intellectual disability 1 tmpaxzxjjyw_mondo_relaxed.owl HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1|HOMGSMR1 OMIM:616418 owl:Class MONDO:0015220 biolink:NamedThing syndrome with a central nervous system malformation as major feature tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN197562|Orphanet:108991 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class CHEBI:30413 biolink:NamedThing heme A heme is any tetrapyrrolic chelate of iron. tmpaxzxjjyw_mondo_relaxed.owl hemos|hemes|Haem|hem|heme|haem|haeme owl:Class MONDO:0012034 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1F Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed. tmpaxzxjjyw_mondo_relaxed.owl limb-girdle muscular dystrophy type 1F|LGMD1F|muscular dystrophy limb-girdle type 1F|muscular dystrophy, limb-girdle, type 1F ICD10:G71.0|SCTID:719989007|OMIM:608423|GARD:0012530|MESH:C564242|Orphanet:55595|DOID:0110304 owl:Class MONDO:0024525 biolink:NamedThing Fanconi renotubular syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl primary Fanconi renal syndrome|adult Fanconi syndrome|renal Fanconi syndrome|Luder-Sheldon syndrome|primary Fanconi renotubular syndrome|Fanconi renotubular syndrome 1|Fanconi renotubular syndrome|DeToni-Debré-Fanconi syndrome|FRTS1|Fanconi syndrome without cystinosis Orphanet:3337|OMIM:134600 owl:Class MONDO:0006618 biolink:NamedThing vibratory urticaria This very rare form of angioedema develops in reply to contact with vibration. In vibratory angioedema, symptoms develop within two to five minutes after contact with vibration and dissolve after about an hour. Patients with this disorder do not suffer from dermographism or pressure urticaria. Vibratory angioedema is diagnosed by holding a vibrating device such as a laboratory vortex machine against the forearm for four minutes. Speedy swelling of the whole forearm extending into the upper arm is also noted later. The principal treatment is avoidance of vibratory stimulants. Antihistamines have also been proven helpful. tmpaxzxjjyw_mondo_relaxed.owl ICD10:L50.4|EFO:1000775|ICD9:708.4|UMLS:C0157743|GARD:0009806|Wikipedia:Urticaria#Vibratory_angioedema|SCTID:51247001|DOID:1554 Editor note: TODO add ECTO owl:Class HGNC:16974 biolink:NamedThing SRCAP tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2315720 biolink:NamedThing Trochida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:216275 biolink:NamedThing Vetigastropoda tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007858 biolink:NamedThing palmoplantar keratoderma, punctate type 1A Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene. tmpaxzxjjyw_mondo_relaxed.owl palmoplantar keratoderma, punctate type IA|Kppp1|palmoplantar keratoderma, punctate type 1A|PPKP1A|punctate palmoplantar keratoderma type 1A|punctate palmoplantar keratoderma caused by mutation in AAGAB|AAGAB punctate palmoplantar keratoderma|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|palmoplantar keratoderma, punctate type 1|keratosis palmoplantaris papulosa OMIM:148600|DOID:0080214|Orphanet:79501 owl:Class UBERON:0002429 biolink:NamedThing cervical lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009603 biolink:NamedThing 3-hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established. tmpaxzxjjyw_mondo_relaxed.owl beta-hydroxyisobutyryl Coa deacylase deficiency|methacrylic acid toxicity|Beta-hydroxyisobutyryl-CoA deacylase deficiency|methacrylic aciduria|valine metabolic defect|HIBCH deficiency|HIBCHD|3-hydroxyisobutyryl-CoA hydrolase deficiency|neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency OMIM:250620|GARD:0013202|Orphanet:88639|ICD10:E71.1|SCTID:722488009|MESH:C562803 owl:Class HGNC:40 biolink:NamedThing ABCB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0008066 biolink:NamedThing glutamate receptor activity Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004302 biolink:NamedThing chief cell adenoma A parathyroid gland adenoma composed predominantly of neoplastic chief cells. These cells have either slightly eosinophilic or vacuolated cytoplasm, and round nuclei. tmpaxzxjjyw_mondo_relaxed.owl chief cell adenoma of the parathyroid gland|chief cell adenoma of the parathyroid|parathyroid gland chief cell adenoma|chief cell adenoma|parathyroid chief cell adenoma|chief cell adenoma of parathyroid gland|chief cell adenoma of parathyroid UMLS:C0334320|NCIT:C4154|DOID:7607|ICDO:8321/0 owl:Class MONDO:0008345 biolink:NamedThing idiopathic pulmonary fibrosis Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause. tmpaxzxjjyw_mondo_relaxed.owl idiopathic pulmonary fibrosis, familial|fibrosing alveolitis, cryptogenic|fibrocystic pulmonary dysplasia|familial idiopathic pulmonary fibrosis|pulmonary fibrosis, idiopathic|interstitial pneumonitis, usual|UIP|CFA|cryptogenic fibrosing alveolitis|fibrosing alveolitis|usual interstitial pneumonia|Hamman-rich disease|IPF DOID:0050156|OMIM:178500|MedDRA:10021240|GARD:0008609|ICD10:J84.1|Orphanet:79126|ICD9:516.31|Orphanet:2032|MESH:D054990|NCIT:C35716|OMIM:616371|OMIM:616373|ICD10:J84.112|SCTID:196125002|EFO:0000768|OMIM:614742 https://rarediseases.info.nih.gov/diseases/8609/idiopathic-pulmonary-fibrosis owl:Class MONDO:0008615 biolink:NamedThing tune deafness tmpaxzxjjyw_mondo_relaxed.owl tone deafness|tune deafness|amusia, congenital|Dysmelodia SCTID:55647004|ICD9:389.8|OMIM:191200|MESH:C566019|UMLS:C1860646 owl:Class MONDO:0016318 biolink:NamedThing progressive multifocal leukoencephalopathy Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but itrarelycauses symptoms unless the immune system becomes severely weakened.The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS). tmpaxzxjjyw_mondo_relaxed.owl leukoencephalopathy, progressive multifocal|progressive multifocal leukoencephalitis|PML UMLS:C0023524|DOID:643|NCIT:C26815|MESH:D007968|Orphanet:217260|GARD:0007468|SCTID:22255007|MedDRA:10036807|EFO:0007455|ICD10:A81.2|ICD9:046.3 https://rarediseases.info.nih.gov/diseases/7468/progressive-multifocal-leukoencephalopathy owl:Class MONDO:0005771 biolink:NamedThing geographic tongue A benign condition characterized by the development of irregular patches in the surface of the tongue resulting in a map-like appearance. The patches migrate from day to day and usually resolve without treatment. tmpaxzxjjyw_mondo_relaxed.owl glossitis areata exfoliativa|Pityriasis linguae|benign migratory glossitis UMLS:C0017677|SCTID:59032001|ICD9:529.1|NCIT:C84588|ICD10:K14.1|OMIM:137400|EFO:0007283|DOID:1455 owl:Class MONDO:0001989 biolink:NamedThing atrophic glossitis tmpaxzxjjyw_mondo_relaxed.owl Hunter's glossitis|atrophy of tongue papillae|glossitis, Hunter's|smooth atrophic tongue SCTID:9491003|ICD9:529.4|ICD10:K14.4|DOID:1453|UMLS:C0155964 owl:Class MONDO:0015043 biolink:NamedThing extramedullary soft tissue plasmacytoma tmpaxzxjjyw_mondo_relaxed.owl ICD10:C90.2|UMLS:CN197328|Orphanet:100022 owl:Class MONDO:0003575 biolink:NamedThing comedocarcinoma A high grade carcinoma characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells. tmpaxzxjjyw_mondo_relaxed.owl Comedocarcinoma|comedo carcinoma DOID:5670|NCIT:C4188|ICDO:8501/3|UMLS:C0334370 Editor note: The DO class may refer to a different entity owl:Class MONDO:0020693 biolink:NamedThing glycogen storage disease due to liver phosphorylase kinase deficiency A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E74.0|OMIM:306000|Orphanet:264580 owl:Class MONDO:0021284 biolink:NamedThing carcinoma in situ of ureter A in situ carcinoma that involves the ureter. tmpaxzxjjyw_mondo_relaxed.owl stage 0is ureter urothelial carcinoma|stage 0is carcinoma of ureter|stage 0is ureter cancer|stage 0is ureter cancer aJCC v7|stage 0is ureter urothelial cancer|stage 0is ureter urothelial carcinoma aJCC v7|stage 0is carcinoma of the ureter|ureter cancer stage 0is|stage 0is ureter carcinoma|carcinoma in situ of the ureter|ureteral carcinoma in situ|ureter in situ carcinoma|stage 0is ureteral carcinoma|stage 0 ureter carcinoma|ureter carcinoma in situ|carcinoma in situ of ureter NCIT:C4529|SCTID:92782006|UMLS:C0346267|ICD9:233.9 owl:Class HP:0002102 biolink:NamedThing Pleuritis Inflammation of the pleura. tmpaxzxjjyw_mondo_relaxed.owl Inflammation of tissues lining lungs and chest|Pleurisy SNOMEDCT_US:196075003|MSH:D010998|UMLS:C0032231 human_phenotype owl:Class HP:0002103 biolink:NamedThing Abnormal pleura morphology An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the pleura UMLS:C4025726 human_phenotype owl:Class MONDO:0016475 biolink:NamedThing Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 tmpaxzxjjyw_mondo_relaxed.owl Beckwith-Wiedemann syndrome due to imprinting defect of type 11p15 UMLS:CN201470|ICD10:Q87.3|Orphanet:231117 owl:Class MONDO:0001714 biolink:NamedThing bejel A chronic skin and tissue disease caused by infection by the endemicum subspecies of the spirochete Treponema pallidum. tmpaxzxjjyw_mondo_relaxed.owl nonvenereal endemic syphilis|endemic syphilis|nonvenereal syphilis|Treponema pallidum subsp. endemicum disease or disorder|Treponema pallidum subsp. endemicum infectious disease|Frenga|Treponema pallidum subsp. endemicum caused disease or disorder|Dichuchwa|Njovera GARD:0005905|DOID:13431|UMLS:C0004945 https://rarediseases.info.nih.gov/diseases/5905/bejel owl:Class HGNC:32528 biolink:NamedThing PRCD tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:10508 biolink:NamedThing Adenoviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008496 biolink:NamedThing storm syndrome tmpaxzxjjyw_mondo_relaxed.owl pleiotropic, autosomal dominant disorder affecting connective tissue|storm syndrome MESH:C566109|OMIM:185069|GARD:0005035|UMLS:C1861452 https://rarediseases.info.nih.gov/diseases/5035/storm-syndrome owl:Class GO:0031099 biolink:NamedThing regeneration The regrowth of a lost or destroyed body part, such as an organ or tissue. This process may occur via renewal, repair, and/or growth alone (i.e. increase in size or mass). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008609 biolink:NamedThing Tristichiasis tmpaxzxjjyw_mondo_relaxed.owl Tristichiasis|eyelashes, three rows of OMIM:190800 owl:Class HGNC:3531 biolink:NamedThing F13A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1723728 biolink:NamedThing unclassified Polyomaviridae tmpaxzxjjyw_mondo_relaxed.owl unassigned Polyomaviridae GC_ID:1 NCBITaxon:1891753 ncbi_taxonomy owl:Class NCBITaxon:151341 biolink:NamedThing Polyomaviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0043352 biolink:NamedThing fournier gangrene An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease. tmpaxzxjjyw_mondo_relaxed.owl gangrene, Fournier's|Fourniers gangrene|gangrene, Fournier|Fournier's disease|fournier gangrene|Fourniers disease|Fournier disease|fournier's gangrene|Fournier's gangrene UMLS:C0238419|MESH:D018934|SCTID:398318005|GARD:0010912 owl:Class MONDO:0022403 biolink:NamedThing Ahumada Del Castillo syndrome A syndrome characterized by galactorrhea and amenorrhea with symptoms of estrogenic insufficiency and absence of urinary gonadotropins. tmpaxzxjjyw_mondo_relaxed.owl amenorrhea galactorrhea FSH decrease syndrome|nonpuerperal galactorrhe amenorrhea|galactorrhea amenorrhea without pregnancy|Argonz Del Castillo syndrome|Argonz Ahumada Del Castillo syndrome GARD:0005763 https://rarediseases.info.nih.gov/diseases/5763/ahumada-del-castillo-syndrome owl:Class HGNC:17318 biolink:NamedThing RXFP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003796 biolink:NamedThing rectum Kaposi sarcoma A Kaposi sarcoma arising from the rectum. tmpaxzxjjyw_mondo_relaxed.owl Kaposi's sarcoma of rectum|rectum Kaposi's sarcoma|rectal Kaposi's sarcoma|Kaposi's sarcoma (disease) of rectum|rectum Kaposi sarcoma|Kaposi's sarcoma of the rectum|rectal Kaposi sarcoma|rectum Kaposi's sarcoma (disease) NCIT:C5550|DOID:6190|UMLS:C1335681 owl:Class UBERON:0022299 biolink:NamedThing upper eyelid nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009631 biolink:NamedThing root of lumbar spinal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018182 biolink:NamedThing bullous impetigo Bullous impetigo is a contagious superficial infection occurring in intact skin. Prevalence in the general population is unknown. The disease is characterized by fragile vesicles and flaccid blisters, most often presenting as erosive lesions covered by a yellow crust. The face, trunk and extremities of children under 5 years of age (particularly neonates) are mainly affected. The disease is generally caused by group II Staphylococcus aureus. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:36237|SCTID:399183005|ICD10:L01.03|UMLS:C0021100|ICD10:L01.0|MedDRA:10006563 owl:Class HGNC:23068 biolink:NamedThing TRAPPC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007251 biolink:NamedThing campomelic dysplasia Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations). tmpaxzxjjyw_mondo_relaxed.owl campomelic dysplasia with autosomal Sex reversal|campomelic dwarfism|Cmd1|acampomelic campomelic dysplasia with autosomal Sex reversal|campomelic dysplasia|Cmpd1/Sra1|CMD|Cmpd|CMPD1|acampomelic campomelic dysplasia|camptomelic dysplasia DOID:0050463|UMLS:C1861923|UMLS:C1861922|OMIM:114290|MESH:D055036|SCTID:74928006|Orphanet:140|OMIM:602196|NCIT:C84609|ICD10:Q87.1|ICD9:733.29|OMIM:211990|GARD:0010027 Editor note: consider adding grouping class for related disorders owl:Class MONDO:0010504 biolink:NamedThing immunodeficiency 47 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency and hepatopathy with or without neurologic features|IMD47|immunodeficiency type 47|immunodeficiency 47; IMD47|immunodeficiency 47|primary immunodeficiency disease caused by mutation in ATP6AP1|ATP6AP1 primary immunodeficiency disease OMIM:300972|UMLS:C4310819 owl:Class NCBITaxon:53550 biolink:NamedThing Culicini tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018869 biolink:NamedThing cobblestone lissencephaly Cobblestone lissencephaly is a rare central nervous system malformation which includes a group of diseases that are characterized by a bumpy (or pebbled) appearance of the cerebral cortex, associated with a thickened cortex, reduction in normal sulcation, ventriculomegaly and reduced, abnormal white matter, as well as brainstem and cerebellum hypoplasia and corpus callosum agenesis. Patients generally present variable degrees of developmental delay, hypotonia and ocular abnomalities, however muscular and ocular involvement may be absent. tmpaxzxjjyw_mondo_relaxed.owl lissencephaly type 2 ICD10:Q04.3|Orphanet:51577|SCTID:253149002 owl:Class MONDO:0001434 biolink:NamedThing inflammatory spondylopathy tmpaxzxjjyw_mondo_relaxed.owl inflammatory spondylopathies in disease EC|inflammatory spondylopathy in disease classified elsewhere|inflammatory spondylopathies in disease classified elsewhere ICD9:720.9|SCTID:202649003|ICD9:720.89|ICD9:720.81|DOID:12105 owl:Class MONDO:0020630 biolink:NamedThing epileptic encephalopathy, infantile or early childhood, 1 tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, infantile or early childhood, 1|IECEE1 DOID:0080472|OMIM:617711 owl:Class MONDO:0020627 biolink:NamedThing epileptic encephalopathy, infantile or early childhood tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:617711 See https://github.com/monarch-initiative/mondo/issues/271 owl:Class MONDO:0012328 biolink:NamedThing trichilemmal cyst tmpaxzxjjyw_mondo_relaxed.owl Pilar cyst|Tricholemmal cyst|TRICY1|trichilemmal cyst 1 UMLS:C2266788|SCTID:254677004|UMLS:C1864801|OMIM:609649 owl:Class MONDO:0019899 biolink:NamedThing distal monosomy 20q tmpaxzxjjyw_mondo_relaxed.owl telomeric deletion 20q|distal monosomy type 20q|distal deletion 20q|monosomy 20qter Orphanet:96152|ICD10:Q93.5 owl:Class NCBITaxon:6247 biolink:NamedThing Strongyloides tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0042705 biolink:NamedThing prostatic malacoplakia associated with prostatic abscess tmpaxzxjjyw_mondo_relaxed.owl prostatic malacoplakia with prostatic and seminal vesicle abscess UMLS:C2931457|GARD:0000149|MESH:C537244 owl:Class MONDO:0019920 biolink:NamedThing paternal uniparental disomy of chromosome 5 Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. tmpaxzxjjyw_mondo_relaxed.owl UPD(5)pat|paternal uniparental disomy of chromosome type 5 ICD10:Q99.8|Orphanet:96190 owl:Class MONDO:0033657 biolink:NamedThing leukodystrophy, hypomyelinating, 20 tmpaxzxjjyw_mondo_relaxed.owl HLD20 OMIM:619071 owl:Class CHEBI:33461 biolink:NamedThing phosphorus oxoanion tmpaxzxjjyw_mondo_relaxed.owl phosphorus oxoanion|oxoanions of phosphorus|phosphorus oxoanions owl:Class HP:0000505 biolink:NamedThing Visual impairment Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. tmpaxzxjjyw_mondo_relaxed.owl Loss of eyesight|Visual impairment|Impaired vision|Poor vision SNOMEDCT_US:246635007|UMLS:C0042798|MSH:D015354|MSH:D014786|SNOMEDCT_US:397540003|UMLS:C3665347|SNOMEDCT_US:7973008 HP:0007983|HP:0000566|HP:0007758|HP:0007860|HP:0000516 human_phenotype owl:Class MONDO:0014604 biolink:NamedThing Parkinson disease 21 Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene. tmpaxzxjjyw_mondo_relaxed.owl PARK21|hereditary late onset Parkinson disease caused by mutation in DNAJC13|Parkinson disease type 21|Parkinson disease 21|DNAJC13 hereditary late onset Parkinson disease UMLS:C4225353|DOID:0111251|Orphanet:411602|OMIM:616361 owl:Class MONDO:0018540 biolink:NamedThing PFAPA syndrome An auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. tmpaxzxjjyw_mondo_relaxed.owl periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome|periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome|periodic fever, aphthous stomatitis, pharyngitis and adenitis|PFAPA|Marshall syndrome|Marshall syndrome with periodic fever SCTID:717231003|Orphanet:42642|UMLS:CN205072|NCIT:C116917|GARD:0005657|UMLS:C4082167|ICD10:E85.0 owl:Class MONDO:0020252 biolink:NamedThing essential strabismus tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98682 owl:Class MONDO:0054738 biolink:NamedThing Fraser syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl Fraser syndrome 2|FRASRS2 OMIM:617666|UMLS:C4540036|DOID:0111407 owl:Class MONDO:0024485 biolink:NamedThing papillary urothelial hyperplasia A type of hyperplasia that is characterized by variable thickening of the urinary tract epithelium and a slight papillary growth. The latter is not associated with the presence of fibrovascular cores. There is no evidence of atypia. The relationship between this lesion and papillary urothelial neoplasia is not clear. -- 2003 tmpaxzxjjyw_mondo_relaxed.owl papillary urothelial hyperplasia NCIT:C27879 owl:Class MONDO:0002816 biolink:NamedThing adrenal cortex disorder A disease involving the adrenal cortex. tmpaxzxjjyw_mondo_relaxed.owl disease of adrenal cortex|adrenal cortex disease|adrenal cortex disease or disorder|disease or disorder of adrenal cortex|disorder of adrenal cortex UMLS:C0001614|SCTID:129636003|DOID:3952|MESH:D000303 owl:Class MONDO:0010534 biolink:NamedThing X-linked spinocerebellar ataxia type 4 Spinocerebellar ataxia, X-linked, type 4 is characterised by ataxia, pyramidal tract signs and adult-onset dementia. It has been described in three generations of one large family. The disease manifests during early childhood with delayed walking and tremor. The pyramidal signs appear progressively and by adulthood memory problems and dementia gradually become apparent. Transmission is X-linked but the causative gene has not yet been identified. The disease is usually fatal during the sixth decade of life. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia X-linked type 4|spinocerebellar ataxia, X-linked type 4|ataxia-dementia syndrome X-linked|X-linked ataxia-dementia syndrome|Scax4|ataxia-dementia syndrome, X-linked|SCAX4|spinocerebellar ataxia, X-linked 4 ICD10:G11.1|GARD:0009980|MESH:C537316|SCTID:719818007|UMLS:C1844933|Orphanet:85292|OMIM:301840 https://rarediseases.info.nih.gov/diseases/9980/spinocerebellar-ataxia-x-linked-type-4 owl:Class MONDO:0023599 biolink:NamedThing mesomelic dysplasia A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae). tmpaxzxjjyw_mondo_relaxed.owl Mesomelic Dysplasia|Mesomelic dysplasia|mesomelic dysplasias|Mesomelic dwarf|mesomelic dysplasia UMLS:C0410536|SCTID:205473008|NCIT:C121156 owl:Class MONDO:0025478 biolink:NamedThing venereal tumors, veterinary Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur. tmpaxzxjjyw_mondo_relaxed.owl venereal tumor, transmissible|tumors, veterinary venereal|tumor, transmissible venereal|venereal tumor, veterinary|veterinary venereal tumor|veterinary venereal tumors|venereal tumors, transmissible|tumor, veterinary venereal|tumors, transmissible venereal|transmissible venereal tumors|transmissible venereal tumor UMLS:C0042465|MESH:D014685 owl:Class MONDO:0060670 biolink:NamedThing amyotrophic lateral sclerosis, susceptibility to, 25 tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis, susceptibility to, 25|ALS25 OMIM:617921|UMLS:CN895594 owl:Class MONDO:0019930 biolink:NamedThing Leydig cell hypoplasia due to complete LH resistance tmpaxzxjjyw_mondo_relaxed.owl 46,XY DSD due to complete LH resistance|46,XY disorder of sex development due to complete LH resistance|Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation|46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation|46,XY disorder of sex development due to complete LH receptor inactivation|46,XY disorder of sex development due to complete luteinizing hormone resistance|46,XY DSD due to complete LH receptor inactivation|46,XY DSD due to complete luteinizing hormone resistance|Leydig cell hypoplasia due to complete luteinizing hormone resistance|Leydig cell hypoplasia due to complete LH receptor inactivation|46,XY DSD due to complete luteinizing hormone receptor inactivation Orphanet:96265|UMLS:CN206847|OMIM:238320|ICD10:Q56.1 owl:Class MONDO:0013051 biolink:NamedThing autosomal recessive cutis laxa type 2B Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|autosomal recessive cutis laxa type 2B|cutis laxa, autosomal recessive type 2B|autosomal recessive cutis laxa type 2 caused by mutation in PYCR1|autosomal recessive cutis laxa type IIB|ARCL2, progeroid type|ARCL2B|cutis laxa, autosomal recessive, type IIB|PYCR1 autosomal recessive cutis laxa type 2|cutis laxa, autosomal recessive, type 2B ICD10:Q82.8|UMLS:C2751987|ICD10CM:Q82.8|MESH:C567855|GARD:0001641|OMIM:612940|DOID:0070137|Orphanet:357064 https://rarediseases.info.nih.gov/diseases/1641/cutis-laxa-autosomal-recessive-type-2b owl:Class HGNC:1675 biolink:NamedThing CD3G tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0070324 biolink:NamedThing thyroid hormone binding Binding to thyroxine (T4) or triiodothyronine (T3), tyrosine-based hormones produced by the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl thyroxine binding|triiodothyronine binding owl:Class GO:0042562 biolink:NamedThing hormone binding Binding to an hormone, a naturally occurring substance secreted by specialized cells that affect the metabolism or behavior of cells possessing functional receptors for the hormone. Hormones may be produced by the same, or different, cell as express the receptor. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006944 biolink:NamedThing renal aminoaciduria A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved. tmpaxzxjjyw_mondo_relaxed.owl EFO:1001149|SCTID:35912001|MESH:D000608|MedDRA:10001939 owl:Class MONDO:0016052 biolink:NamedThing atypical autism Atypical autism is a pervasive developmental disorder that does not fit the diagnosis for the other specific autistic spectrum disorders (autism, Asperger syndrome, Rett syndrome or childhood disintegrative disorder) and is characterized by usually milder developmental and social delay and less stereotypical autistic behavior. ' tmpaxzxjjyw_mondo_relaxed.owl SCTID:231536004|Orphanet:199627|MedDRA:10003747|ICD10:F84.1|ICD9:299.80 owl:Class CHEBI:23390 biolink:NamedThing cobalt-corrinoid hexaamide tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017835 biolink:NamedThing lymphocytic hypereosinophilic syndrome tmpaxzxjjyw_mondo_relaxed.owl HES-L|lymphoid HES|lymphocytic variant HES ICD10:D47.5|Orphanet:314970|UMLS:CN203810 owl:Class UBERON:0003582 biolink:NamedThing nasopharynx connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010564 biolink:NamedThing manual digit 1 mesenchyme tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018779 biolink:NamedThing hypercontractile muscle stiffness syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:476403|UMLS:CN776841 owl:Class MONDO:0020343 biolink:NamedThing alpha-crystallinopathy tmpaxzxjjyw_mondo_relaxed.owl CRYAB-related myofobrillar myopathy Orphanet:98910|ICD10:G71.8 owl:Class MONDO:0015053 biolink:NamedThing hereditary angioedema type 1 Hereditary angioedema type 1 (HAE 1) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpaxzxjjyw_mondo_relaxed.owl hereditary angioneurotic edema type 1|HAE 1|HAE-I OMIM:106100|ICD10:D84.1|SCTID:234619000|Orphanet:100050|ICD9:279.8 owl:Class NCBITaxon:9845 biolink:NamedThing Ruminantia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:91561 biolink:NamedThing Artiodactyla tmpaxzxjjyw_mondo_relaxed.owl Cetartiodactyla|even-toed ungulates|whales, hippos, ruminants, pigs, camels etc. GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004136 biolink:NamedThing ovarian endometrioid cystadenoma A benign neoplasm of the ovary characterized by the presence of cystic structures lined by endometrial-type well-differentiated cells. tmpaxzxjjyw_mondo_relaxed.owl ovarian endometrioid cystadenoma DOID:7191|NCIT:C40075|UMLS:C1518713 owl:Class MONDO:0020814 biolink:NamedThing miliaria alba tmpaxzxjjyw_mondo_relaxed.owl SCTID:201191004 owl:Class CL:0008028 biolink:NamedThing visual system neuron tmpaxzxjjyw_mondo_relaxed.owl dos 2017-07-09 19:12:36+00:00 owl:Class MONDO:0008459 biolink:NamedThing spinocerebellar atrophy with pupillary paralysis tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar atrophy with pupillary paralysis UMLS:C1866746|OMIM:183100|MESH:C566668 owl:Class SO:1000037 biolink:NamedThing chromosomal_duplication An extra chromosome. tmpaxzxjjyw_mondo_relaxed.owl (fungi)Dp|(Drosophila)Dp|chromosomal duplication owl:Class HGNC:23663 biolink:NamedThing VKORC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016566 biolink:NamedThing loiasis Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa, endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis. tmpaxzxjjyw_mondo_relaxed.owl Loa loa filariasis|African eye worm EFO:1000729|MedDRA:10024797|NCIT:C34784|Orphanet:2404|DOID:13523|UMLS:C0023968|ICD9:125.2|ICD10:B74.3|GARD:0003283|MESH:D008118|SCTID:44250009 https://rarediseases.info.nih.gov/diseases/3283/loiasis owl:Class MONDO:0006306 biolink:NamedThing mixed lobular and ductal breast carcinoma A breast carcinoma characterized by the presence of a lobular and a ductal component. The ductal component comprises less than 50 percent of the tumor. tmpaxzxjjyw_mondo_relaxed.owl ductal and lobular carcinoma|breast mixed ductal and lobular carcinoma|mixed ductal and lobular breast carcinoma|mixed ductal and lobular carcinoma of the breast|mixed lobular and ductal carcinoma of the breast|mixed lobular and ductal carcinoma of breast|mixed ductal and lobular carcinoma of breast|mixed lobular and ductal breast carcinoma|mixed lobular and ductal carcinoma EFO:1000382|ICD9:174.8|SCTID:444604002|UMLS:C0334384|ONCOTREE:MDLC|NCIT:C5160 owl:Class MONDO:0004745 biolink:NamedThing priapism Persistent and usually painful erection that lasts for at least four hours in the absence of physical or psychological stimulation, which can be caused by hematologic disorders, including sickle cell disease and leukemia, spinal cord injuries, and medications. tmpaxzxjjyw_mondo_relaxed.owl Mentulagra ICD9:607.3|ICD10:N48.3|ICD10:N48.30|DOID:9286|NCIT:C85022|UMLS:C0033117|MESH:D011317|SCTID:6273006|Orphanet:140949 owl:Class HGNC:22923 biolink:NamedThing GMPPA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009674 biolink:NamedThing muscular dystrophy, adult-onset, with leukoencephalopathy tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, adult-onset, with leukoencephalopathy MESH:C565361|OMIM:253590|UMLS:C1854646 owl:Class MONDO:0011602 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 27 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 27|DFNB27|deafness, autosomal recessive 27|autosomal recessive deafness 27|autosomal recessive nonsyndromic deafness type 27 UMLS:C1853941|Orphanet:90636|ICD10:H90.3|MESH:C565287|OMIM:605818|DOID:0110485 owl:Class NCBITaxon:1963758 biolink:NamedThing Myomorpha tmpaxzxjjyw_mondo_relaxed.owl Sciurognathi|mice and others GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013486 biolink:NamedThing spinocerebellar ataxia type 32 Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by ataxia, cognitive impairment and azoospermia in males. tmpaxzxjjyw_mondo_relaxed.owl SCA32|spinocerebellar ataxia 32|cerebellar ataxia with azoospermia and intellectual disability UMLS:C4304844|OMIM:613909|UMLS:C3151343|Orphanet:276183|ICD10:G11.8|SCTID:719254001 owl:Class HP:0012862 biolink:NamedThing Abnormal germ cell morphology Any structural anomaly of a reproductive cell. tmpaxzxjjyw_mondo_relaxed.owl Abnormal shape of a reproductive cell|Abnormally shaped germ cell|Abnormally shaped reproductive cell UMLS:C4022704 hecht 2014-06-09T10:01:49Z human_phenotype owl:Class NCBITaxon:1903410 biolink:NamedThing Pectobacteriaceae tmpaxzxjjyw_mondo_relaxed.owl PMID:27620848|GC_ID:11 ncbi_taxonomy owl:Class CHEBI:176843 biolink:NamedThing vitamin B12 Any member of a group of cobalamin vitamers that exhibit biological activity against vitamin B12 deficiency. Vitamin B12 deficiency is associated with low red blood cell count and anemia. The vitamers are found in foods such as cereals, meat, fish, and poultry. The vitamers include adenosylcobalamin, hydroxocobalamin, cyanocobalamin, aquacobalamin, nitritocobalamin and methylcobabalamin (also includes their ionized, salt and phosphate derivatives). tmpaxzxjjyw_mondo_relaxed.owl vitamin B12|vitamin B12 vitamers|vitamin B12 vitamer|vitamin B-12|vitamins B12 owl:Class MONDO:0017580 biolink:NamedThing 11p15.4 microduplication syndrome 11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. tmpaxzxjjyw_mondo_relaxed.owl trisomy 11p15.4|dup(11)p(15.4) UMLS:CN203376|ICD10:Q92.3|Orphanet:300305 owl:Class MONDO:0016948 biolink:NamedThing partial duplication of the short arm of chromosome 11 tmpaxzxjjyw_mondo_relaxed.owl partial duplication of the short arm of chromosome type 11|partial trisomy of chromosome 11p|partial trisomy of the short arm of chromosome 11|partial duplication of chromosome 11p Orphanet:262785 owl:Class MONDO:0011799 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 33 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 10p11.23-q21.1. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 33|DFNB33|autosomal recessive nonsyndromic deafness type 33|autosomal recessive deafness 33|autosomal recessive nonsyndromic deafness 33 MESH:C564602|ICD10:H90.3|UMLS:C1846576|OMIM:607239|DOID:0110492 owl:Class MONDO:0000679 biolink:NamedThing social emotional agnosia An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. tmpaxzxjjyw_mondo_relaxed.owl expressive agnosia DOID:0060149 owl:Class MONDO:0011410 biolink:NamedThing Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly tmpaxzxjjyw_mondo_relaxed.owl Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly OMIM:604211|MESH:C565817|UMLS:C1858696 owl:Class MONDO:0011556 biolink:NamedThing basal cell carcinoma, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl basal cell carcinoma, multiple|basal cell carcinoma, susceptibility to, 1|multiple basal cell carcinoma|BCC1|basal cell carcinoma, nonsyndromic GARD:0009303|OMIM:605462 owl:Class NCBITaxon:186801 biolink:NamedThing Clostridia tmpaxzxjjyw_mondo_relaxed.owl PMID:26410691|PMID:31076745|GC_ID:11 ncbi_taxonomy owl:Class HGNC:14373 biolink:NamedThing GLMN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019421 biolink:NamedThing X-linked intellectual disability, Seemanova type X-linked intellectual disability, Seemanova type is characterised by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.8|UMLS:CN227630|Orphanet:85323|SCTID:718897009 owl:Class MONDO:0025356 biolink:NamedThing azoospermia, obstructive, with nephrolithiasis tmpaxzxjjyw_mondo_relaxed.owl OAZON OMIM:301060 owl:Class MONDO:0014203 biolink:NamedThing primary ciliary dyskinesia 25 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF4 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia 25 with or without situs inversus|ciliary dyskinesia, primary, type 25|ciliary dyskinesia, primary, 25, with or without situs inversus|ciliary dyskinesia, primary, 25|DNAAF4 primary ciliary dyskinesia|primary ciliary dyskinesia caused by mutation in DNAAF4|primary ciliary dyskinesia type 25|CILD25 DOID:0110615|ICD10:Q34.8|OMIM:615482|UMLS:C3809641 owl:Class GO:0070563 biolink:NamedThing negative regulation of vitamin D receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the vitamin D receptor signaling pathway activity. tmpaxzxjjyw_mondo_relaxed.owl downregulation of vitamin D receptor signaling pathway|inhibition of vitamin D receptor signaling pathway|down-regulation of vitamin D receptor signaling pathway|negative regulation vitamin D receptor signalling pathway|negative regulation of VDR signaling pathway|down regulation of vitamin D receptor signaling pathway|negative regulation of VDR signalling pathway owl:Class HGNC:21396 biolink:NamedThing ABHD5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004801 biolink:NamedThing unilateral hypoactive labyrinth tmpaxzxjjyw_mondo_relaxed.owl DOID:9496|UMLS:C0155517|ICD9:386.53 owl:Class MONDO:0013079 biolink:NamedThing primary biliary cholangitis 2 tmpaxzxjjyw_mondo_relaxed.owl biliary cirrhosis, primary, 2|PBC2 MESH:C567817|Orphanet:186|UMLS:C2751696|OMIM:613007 owl:Class MONDO:0019547 biolink:NamedThing Wells syndrome Wells syndrome is characterised by the presence of recurrent cellulitis-like eruptions with eosinophilia. tmpaxzxjjyw_mondo_relaxed.owl Wells' syndrome|bullous cellulitis with eosinophilia|eosinophilic cellulitis ICD9:682.9|SCTID:238931006|Orphanet:901|ICD10:L98.3|UMLS:C0343101|MESH:C536693|GARD:0000329 https://rarediseases.info.nih.gov/diseases/329/wells-syndrome owl:Class MONDO:0005755 biolink:NamedThing equine infectious anemia Viral disease of horses caused by the equine infectious anemia virus (eiav; infectious anemia virus, equine). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions. tmpaxzxjjyw_mondo_relaxed.owl MESH:D004859|UMLS:C0014661|EFO:0007263 owl:Class UBERON:0007473 biolink:NamedThing lumen of epithelial sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011224 biolink:NamedThing monomelic amyotrophy Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms. tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy, juvenile, nonprogressive|JMADUE|amyotrophy, monomelic|spinal muscular atrophy juvenile nonprogressive|benign focal amyotrophy|juvenile muscular atrophy of distal upper extremity|juvenile muscular atrophy of the distal upper limb|Hirayama disease MESH:C538253|OMIM:602440|UMLS:C1865384|GARD:0009697|Orphanet:65684|ICD10:G12.8|EFO:1001989|MedDRA:10069681 https://rarediseases.info.nih.gov/diseases/9697/monomelic-amyotrophy owl:Class MONDO:0023129 biolink:NamedThing Fara Chlupackova syndrome tmpaxzxjjyw_mondo_relaxed.owl familial oto-facio-cervical dysmorphia GARD:0002273|UMLS:C2931416|MESH:C537074 https://rarediseases.info.nih.gov/diseases/2273/fara-chlupackova-syndrome owl:Class MONDO:0011365 biolink:NamedThing blepharophimosis - intellectual disability syndrome, SBBYS type Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested. tmpaxzxjjyw_mondo_relaxed.owl hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome|Ohdo syndrome, SBBYS variant|blepharophimosis - intellectual disability syndrome, SBBYS type|Young-Simpson syndrome|SBBYSS|Say-Barber-Biesecker-Young-Simpson syndrome MESH:C536717|Orphanet:3047|SCTID:699298009|DOID:0060290|ICD9:759.89|OMIM:603736|ICD10:Q87.8 owl:Class CHEBI:17272 biolink:NamedThing propionate The conjugate base of propionic acid; a key precursor in lipid biosynthesis. tmpaxzxjjyw_mondo_relaxed.owl EtCO2 anion|propanoate|metacetonate|CH3-CH2-COO(-)|propionate|pseudoacetate|carboxylatoethane|methylacetate|ethanecarboxylate|propanate|propanoic acid, ion(1-)|ethylformate owl:Class MONDO:0016669 biolink:NamedThing sickle cell-hemoglobin c disease syndrome tmpaxzxjjyw_mondo_relaxed.owl HbSC disease|sickle cell - hemoglobin C disease Orphanet:251365|GARD:0006584|ICD10:D57.2|MedDRA:10057072|UMLS:C0019034 owl:Class MONDO:0008776 biolink:NamedThing amyloidosis of gingiva and conjunctiva, with intellectual disability tmpaxzxjjyw_mondo_relaxed.owl amyloidosis of gingiva and conjunctiva with mental retardation|amyloidosis of gingiva and conjunctiva with intellectual disability|amyloidosis of gingiva and conjunctiva, with mental retardation|amyloidosis of gingiva and conjunctiva, with intellectual disability|Hornova Dlushosova syndrome UMLS:C1859815|MESH:C565958|OMIM:204850|GARD:0000657 https://rarediseases.info.nih.gov/diseases/657/amyloidosis-of-gingiva-and-conjunctiva-with-intellectual-disability owl:Class FOODON:00001304 biolink:NamedThing food fermentation A fermentation process in which either carbohydrates, proteins or fats are modified through microbial, enzymatic and/or other biological process. tmpaxzxjjyw_mondo_relaxed.owl Damion Dooley owl:Class FOODON:03460119 biolink:NamedThing microbial/enzymatic modification process A food modification process by microbial or enzymatic action which results in molecular changes in any food component. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0119 LanguaL curation note: If salt, sugar or other food additive is used to aid in the modification process, index it by the appropriate term under *INGREDIENT ADDED*. fermented, unspecified owl:Class MONDO:0017984 biolink:NamedThing familial lambdoid synostosis Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure. tmpaxzxjjyw_mondo_relaxed.owl lambdoid synostosis|craniosynostosis, lambdoidal OMIM:600775|GARD:0003168|ICD10:Q75.0|Orphanet:3267|UMLS:CN204142|SCTID:766884000 owl:Class MONDO:0018207 biolink:NamedThing 2p13.2 microdeletion syndrome 2p13.2 microdeletion syndrome is a rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy. tmpaxzxjjyw_mondo_relaxed.owl Del(2)(p13.2) ICD10:Q93.5|Orphanet:363680|UMLS:CN204723 owl:Class PO:0000037 biolink:NamedThing shoot axis apex A shoot axis (PO:0025029) that is the most distal part of a shoot system (PO:0009006) and has as parts a shoot apical meristem (PO:0020148) and the youngest primordia (PO:0025127). tmpaxzxjjyw_mondo_relaxed.owl ápice del epiblasto (epiblastema) (Spanish, exact)|シュート頂、茎頂 (Japanese, exact) PO_GIT:234 plant_anatomy owl:Class NCBITaxon:6231 biolink:NamedThing Nematoda tmpaxzxjjyw_mondo_relaxed.owl roundworms|nematode|roundworm|nematodes|Nemata GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010883 biolink:NamedThing pectus excavatum-macrocephaly-dysplastic nails syndrome Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. tmpaxzxjjyw_mondo_relaxed.owl familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails|pectus excavatum, macrocephaly, short stature, and dysplastic nails|Zori-Stalker-Williams syndrome|Zori Stalker Williams syndrome|pectus excavatum, macrocephaly and dysplastic nails OMIM:600399|UMLS:C2931302|Orphanet:2835|GARD:0000374|SCTID:763863002|MESH:C536728 owl:Class NCBITaxon:83136 biolink:NamedThing Trombidiformes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class PATO:0002462 biolink:NamedThing collagenous A composition quality inhering in an bearer by virtue of the bearer's consisting of collagen. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017739 biolink:NamedThing disorder of lysosomal-related organelles tmpaxzxjjyw_mondo_relaxed.owl Orphanet:309340|UMLS:CN227186 owl:Class MONDO:0002424 biolink:NamedThing rectosigmoid carcinoma A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area. tmpaxzxjjyw_mondo_relaxed.owl rectosigmoid cancer|rectosigmoid junction carcinoma|rectosigmoid carcinoma|carcinoma of rectosigmoid junction NCIT:C7421|DOID:2781|UMLS:C1327709 owl:Class FOODON:03400139 biolink:NamedThing multicomponent meal (us cfr) A multiple-component food product typically containing a protein source, a vegetable, and a potato, rice or cereal-based component packaged to be served after heating, either as separate items or courses or mixed as recipe components; see 21 CFR 102.26, 102.28 and 104.47 for nutritional quality guidelines. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0139 dinner, compartmentalized|food packs with separate components|tv dinner|multiple-course dinner|heat and serve dinner|dinner with components separated in serving containers|compartmentalized dinner http://langual.org owl:Class MONDO:0008989 biolink:NamedThing citrulline transport defect tmpaxzxjjyw_mondo_relaxed.owl citrulline transport defect MESH:C536207|UMLS:C1859084|OMIM:215720|GARD:0009949 https://rarediseases.info.nih.gov/diseases/9949/citrulline-transport-defect owl:Class NCBITaxon:5061 biolink:NamedThing Aspergillus niger tmpaxzxjjyw_mondo_relaxed.owl Aspergillus lacticoffeatus GC_ID:1|PMID:21892240 NCBITaxon:319628 ncbi_taxonomy owl:Class MONDO:0010404 biolink:NamedThing X-linked non progressive cerebellar ataxia X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems. tmpaxzxjjyw_mondo_relaxed.owl SCAX5|spinocerebellar ataxia, X-linked 5|X-linked spinocerebellar ataxia type 5 UMLS:C2678048|Orphanet:314978|ICD10:G11.0|SCTID:766818009|OMIM:300703|MESH:C567478 owl:Class GO:1900116 biolink:NamedThing extracellular negative regulation of signal transduction Any negative regulation of signal transduction that takes place in extracellular region. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of signalling pathway in extracellular region|extracellular inhibition of signaling pathway|negative regulation of signaling pathway in extracellular region|down-regulation of signal transduction in extracellular region|downregulation of signal transduction in extracellular region|inhibition of signal transduction in extracellular region|down regulation of signal transduction in extracellular region owl:Class GO:1900115 biolink:NamedThing extracellular regulation of signal transduction Any regulation of signal transduction that takes place in the extracellular region. tmpaxzxjjyw_mondo_relaxed.owl regulation of signaling pathway in extracellular region|regulation of signalling pathway in extracellular region owl:Class MONDO:0024517 biolink:NamedThing schwannomatosis 1 tmpaxzxjjyw_mondo_relaxed.owl SWNTS1|neurilemmomatosis, congenital cutaneous|SCHWANNOMATOSIS 1 Orphanet:93921|OMIM:162091|UMLS:C4048809 owl:Class MONDO:0014382 biolink:NamedThing tall stature-intellectual disability-facial dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl TATTON-BROWN-Rahman syndrome|DNMT3A-related overgrowth syndrome|tall stature-intellectual disability-facial dysmorphism syndrome|TBRS|Tatton-Brown-Rahman overgrowth syndrome SCTID:768843007|Orphanet:404443|UMLS:C4014545|OMIM:615879|ICD10:Q87.3 owl:Class CHEBI:76731 biolink:NamedThing EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-NH group of donors (EC 1.5.*.*). tmpaxzxjjyw_mondo_relaxed.owl EC 1.5.* (oxidoreductase acting on donor CH-NH group) inhibitors|inhibitors of oxidoreductase acting on CH-NH group of donors|EC 1.5.* inhibitors|inhibitor of oxidoreductase acting on CH-NH group of donor|inhibitors of oxidoreductase acting on CH-NH group of donor|oxidoreductase acting on donor CH-NH group (EC 1.5.*) inhibitor|oxidoreductase acting on donor CH-NH group (EC 1.5.*) inhibitors|EC 1.5.* inhibitor|inhibitor of oxidoreductase acting on CH-NH group of donors owl:Class NCBITaxon:577468 biolink:NamedThing Micrococcales incertae sedis tmpaxzxjjyw_mondo_relaxed.owl unclassified Micrococcineae GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:85006 biolink:NamedThing Micrococcales tmpaxzxjjyw_mondo_relaxed.owl Micrococcineae PMID:30186281|PMID:11837321|GC_ID:11|PMID:20190019|PMID:19542112|PMID:19244447 ncbi_taxonomy owl:Class MONDO:0026765 biolink:NamedThing congenital disorder of glycosylation, type IIr tmpaxzxjjyw_mondo_relaxed.owl CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr|CDG IIr|CDG2R OMIM:301045 owl:Class MONDO:0009569 biolink:NamedThing Hennekam-Beemer syndrome Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe intellectual disability|skin mastocytosis hearing loss microcephaly mild dysmorphic features and severe mental retardation|mastocytosis-short stature-hearing loss syndrome|cutaneous mastocytosis, conductive hearing loss and microtia|mastocytosis cutaneous with short stature conductive hearing loss and microtia|Hennekam Beemer syndrome SCTID:722453009|UMLS:CN201032|OMIM:248910|MESH:C536033|Orphanet:2135|GARD:0003409|ICD10:Q82.2 https://rarediseases.info.nih.gov/diseases/3409/mastocytosis-cutaneous-with-short-stature-conductive-hearing-loss-and-microtia owl:Class MONDO:0016458 biolink:NamedThing 8q12 microduplication syndrome The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly. tmpaxzxjjyw_mondo_relaxed.owl trisomy 8q12|chromosome 8q12 microduplication syndrome|dup(8)(q12) GARD:0012816|ICD10:Q92.3|SCTID:719684000|UMLS:C4304504|UMLS:CN201422|Orphanet:228399 https://rarediseases.info.nih.gov/diseases/12816/8q12-microduplication-syndrome owl:Class MONDO:0013315 biolink:NamedThing retinitis pigmentosa 57 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene. tmpaxzxjjyw_mondo_relaxed.owl PDE6G retinitis pigmentosa|RP57|retinitis pigmentosa caused by mutation in PDE6G|retinitis pigmentosa type 57|retinitis pigmentosa 57 OMIM:613582|UMLS:C3150821|ICD10:H35.5|Orphanet:791|DOID:0110407 owl:Class MONDO:0001794 biolink:NamedThing Pthirus pubis infestation Infestation of the pubic hair by the pthirus pubis parasite which results in mild to intense itching and macular lesions. The parasite, also known as crab lice, is transmitted through skin to skin contact with an infected person or through direct contact with infested objects. tmpaxzxjjyw_mondo_relaxed.owl pediculosis pubis|Pediculus pubis|crabs|Phthirus/pediculus pubis - pubic lice - crabs|Pthirus pubis infection|infections, Pthirus pubis|Phthirus pubis|phthiriasis pubis|Phthirus/pediculus pubis - pubic lice - crabs (& infestation)|infestation by Phthirus pubis|Phthirus pubis [pubic louse]|phthiriasis ICD10:B85.3|UMLS:C0030759|ICD9:132.2|SCTID:71011005|DOID:13760|NCIT:C35777 owl:Class MONDO:0007570 biolink:NamedThing erythema palmare hereditarium A rare, benign, congenital genetic skin disorder characterized by permanent and asymptomatic erythema of the palmar and, less frequently, the solar surfaces. In most cases, it presents with sharply demarcated redness of the thenar and hypothenar eminences, as well as the palmar aspect of the phalanges, with scattered telangiectasia spots that do not cause any discomfort (pain, itching or burning) to the patient. tmpaxzxjjyw_mondo_relaxed.owl Red palms disease|lane disease|erythema palmare hereditarium UMLS:C1851502|Orphanet:231031|SCTID:763767006|OMIM:133000|MESH:C565041|ICD10:L59.8 owl:Class MONDO:0006095 biolink:NamedThing atypical carcinoid tumor A carcinoid tumor characterized by a high mitotic rate, often associated with the presence of necrosis and nuclear pleomorphism. tmpaxzxjjyw_mondo_relaxed.owl malignant carcinoid tumor|atypical carcinoid tumor UMLS:C1266032|UMLS:C0391970|EFO:1000097|SCTID:445238008|NCIT:C72074 owl:Class MONDO:0017402 biolink:NamedThing familial isolated arrhythmogenic ventricular dysplasia, biventricular form tmpaxzxjjyw_mondo_relaxed.owl familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form Orphanet:293899|UMLS:CN203146|OMIM:107970|OMIM:610193|ICD10:I42.8 owl:Class MONDO:0015907 biolink:NamedThing epimetaphyseal skeletal dysplasia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:1819|ICD10:Q77.8|GARD:0002176 https://rarediseases.info.nih.gov/diseases/2176/epimetaphyseal-skeletal-dysplasia owl:Class MONDO:0009291 biolink:NamedThing glycogen storage disease III Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy. tmpaxzxjjyw_mondo_relaxed.owl GSD type 3|Gde deficiency|deficiency of debranching enzyme|GSDIII|GSD3|limit dextrinosis|AGL glycogen storage disease|amylo-1,6-glucosidase deficiency|GDE deficiency|glycogenosis due to glycogen debranching enzyme deficiency|glycogen Debrancher deficiency|glycogen storage disease, type III|glycogen storage disease IIIC|glycogen storage disease type III|Cori disease|glycogen storage disease IIIa|glycogenosis type 3|GSD due to glycogen debranching enzyme deficiency|amylo 1,6 glucosidase deficiency|glycogen storage disease 3|Agl deficiency|glycogen storage disease caused by mutation in AGL|glycogen storage disease IIIb|glycogen storage disease IIID|glycogenosis type III|Cori-Forbes disease|glycogen storage disease due to glycogen debranching enzyme deficiency|Forbes disease|glycogen storage disease type 3|deficiency of dextrin|glycogen storage disease III UMLS:CN204781|MESH:D006010|UMLS:C1968741|MedDRA:10053250|ICD10:E74.0|SCTID:66937008|Orphanet:366|GARD:0009442|ICD10:E74.03|UMLS:C0017922|DOID:2748|NCIT:C84736|OMIM:232400 owl:Class MONDO:0018594 biolink:NamedThing secondary polyarteritis nodosa Secondary polyarteritis nodosa (PAN) is a rare serious form of PAN characterized by vasculitis in a background of viral infection, primarily with hepatitis B virus (HBV). tmpaxzxjjyw_mondo_relaxed.owl secondary PAN|secondary periarteritis nodosa|Scondary PAN UMLS:CN237624|Orphanet:439746|ICD10:M30.8 owl:Class MONDO:0011585 biolink:NamedThing autosomal recessive distal spinal muscular atrophy 2 Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset). tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy, distal, autosomal recessive, type 2|neuropathy, distal hereditary motor, Jerash type|dHMNJ|hereditary motor neuropathy, Jerash type|spinal muscular atrophy Jerash type|autosomal recessive distal spinal muscular atrophy type 2|spinal muscular atrophy, Jerash type|spinal muscular atrophy, distal, autosomal recessive, 2|DSMA2|motor neuropathy, distal, Jerash type|distal hereditary motor neuropathy, Jerash type|neuronopathy, distal hereditary motor, Jerash type|distal hereditary motor neuropathy Jerash type|HMNJ|MNDJ SCTID:763533003|OMIM:605726|DOID:0111065|Orphanet:139552|ICD10:G12.2|MESH:C535715|GARD:0010133 owl:Class MONDO:0033810 biolink:NamedThing isolated iridoschisis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:519392 owl:Class MONDO:0009454 biolink:NamedThing immunodeficiency-centromeric instability-facial anomalies syndrome 1 Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene. tmpaxzxjjyw_mondo_relaxed.owl centromeric instability, immunodeficiency syndrome|DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome|ICF syndrome 1|ICF1|immunodeficiency syndrome, variable|immunodeficiency-centromeric instability-Facial anomalies syndrome type 1|immunodeficiency-centromeric instability-facial anomalies syndrome 1|immunodeficiency-centromeric instability-facial anomalies syndrome type 1|immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16 Orphanet:2268|NCIT:C156430|DOID:0090008|ICD10:D84.8|OMIM:242860 owl:Class MONDO:0004816 biolink:NamedThing refractory plasma cell neoplasm A plasma cell neoplasm that is resistant to treatment. tmpaxzxjjyw_mondo_relaxed.owl refractory plasma cell neoplasm DOID:9544|NCIT:C7813|UMLS:C0278620 owl:Class NCBITaxon:35493 biolink:NamedThing Streptophyta tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:1373 biolink:NamedThing CA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C43431 biolink:NamedThing Activity An active process; excludes processes and mechanisms which fulfill biological functions. tmpaxzxjjyw_mondo_relaxed.owl General activity|Activity owl:Class MONDO:0012057 biolink:NamedThing legionnaire disease, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl Legionella infection|legionnaire disease, susceptibility to|susceptibility to legionnaire disease|legionnaire's disease GARD:0006876|OMIM:608556 owl:Class MONDO:0004325 biolink:NamedThing testicular thecoma A rare benign tumor that arises from the testis and is characterized by the presence of lipid-rich neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl testis thecoma|thecoma of testis UMLS:C1515299|DOID:7676|NCIT:C39952 owl:Class HGNC:11185 biolink:NamedThing SORL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007588 biolink:NamedThing extrasystoles-short stature-hyperpigmentation-microcephaly syndrome Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. tmpaxzxjjyw_mondo_relaxed.owl Char-Douglas-Dungan syndrome|extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly Orphanet:1964|UMLS:C1851412|MESH:C565032|OMIM:133750 owl:Class HGNC:12930 biolink:NamedThing ZBTB16 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032571 biolink:NamedThing spondyloepimetaphyseal dysplasia, Krakow type tmpaxzxjjyw_mondo_relaxed.owl SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE|Immunoosseous Dysplasia, Krakow Type|SEMDK OMIM:618162 owl:Class HP:0002248 biolink:NamedThing Hematemesis The vomiting of blood. tmpaxzxjjyw_mondo_relaxed.owl Vomitting blood UMLS:C0018926|MSH:D006396|SNOMEDCT_US:8765009 The source of hematemesis is generally the upper gastrointestinal tract. human_phenotype owl:Class MONDO:0011734 biolink:NamedThing Cardioneuromyopathy with hyaline masses and nemaline rods tmpaxzxjjyw_mondo_relaxed.owl Cardioneuromyopathy with hyaline masses and nemaline rods UMLS:C1847387|MESH:C564655|OMIM:606842 owl:Class MONDO:0008629 biolink:NamedThing urolithiasis, uric acid, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl urolithiasis, uric acid, autosomal dominant|nephrolithiasis, uric acid, autosomal dominant DOID:0080654|OMIM:191700 owl:Class MONDO:0030978 biolink:NamedThing endove syndrome, limb-only type tmpaxzxjjyw_mondo_relaxed.owl ENDOVESL|Mesomelia of Lower Extremities With Hand and Foot Anomalies OMIM:619217 owl:Class ECTO:7000069 biolink:NamedThing exposure to organic material A exposure event involving the interaction of an exposure receptor to organic material. tmpaxzxjjyw_mondo_relaxed.owl organic material exposure owl:Class MONDO:0000993 biolink:NamedThing prostate squamous cell carcinoma An invasive prostate carcinoma characterized by the presence of squamous differentiation of the malignant cellular infiltrate. There is no evidence of glandular differentiation. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of prostate|PRSC|prostate gland squamous cell carcinoma|squamous cell carcinoma of the prostate|prostate squamous cell carcinoma ONCOTREE:PRSC|UMLS:C1302530|DOID:10287|NCIT:C5536|SCTID:399590005 owl:Class MONDO:0016787 biolink:NamedThing epithelioid trophoblastic tumor An epithelioid trophoblastic tumor is an extremely rare gestational trophoblastic tumor (GTT) which generally occurs several years after pregnancy. tmpaxzxjjyw_mondo_relaxed.owl ETT|epithelioid trophoblastic tumor Orphanet:254698|ICDO:9105/3|NCIT:C6900|ICD10:D39.2|SCTID:609515005|DOID:3593|ONCOTREE:ETT|UMLS:C1266159 owl:Class MONDO:0012932 biolink:NamedThing myopia 16, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl myopia 16, autosomal dominant|MYP16 OMIM:612554|UMLS:C2675523|MESH:C567259 owl:Class MONDO:0016392 biolink:NamedThing cerebellar hypoplasia-tapetoretinal degeneration syndrome Cerebellar hypoplasia-tapetoretinal degeneration syndrome is a rare syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. tmpaxzxjjyw_mondo_relaxed.owl cerebellar hypoplasia tapetoretinal degeneration ICD10:Q04.3|DOID:0070339|Orphanet:2246|OMIM:213000|GARD:0001196 https://rarediseases.info.nih.gov/diseases/1196/cerebellar-hypoplasia-tapetoretinal-degeneration owl:Class MONDO:0009126 biolink:NamedThing duodenal atresia Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen. tmpaxzxjjyw_mondo_relaxed.owl duodenal atresia (disease)|duodenal stenosis|atresia of duodenum|duodenal atresia|congenital atresia of duodenum|congenital duodenal atresia duodenal atresia (disease) SCTID:51118003|MedDRA:10013812|Orphanet:1203|ICD10:Q41.0|UMLS:C0266174|MESH:C535720|DOID:0080216|GARD:0000054|NCIT:C101025|OMIM:223400|HP:0002247|ICD9:751.1 owl:Class MONDO:0001045 biolink:NamedThing intestinal atresia A congenital malformation characterized by the absence of a normal opening in a part of the intestine. It can occur either in the small or the large intestine. tmpaxzxjjyw_mondo_relaxed.owl congenital intestinal atresia|intestinal atresia|atresia of the intestine|intestinal atresia (disease) intestinal atresia (disease) HP:0011100|ICD10:Q41.1|DOID:10486|UMLS:C0021828|NCIT:C84790 owl:Class NCBITaxon:773 biolink:NamedThing Bartonella tmpaxzxjjyw_mondo_relaxed.owl "Bartonia" Strong et al. 1913|Grahamella|Rocha-Limae|Grahmia|Rochalimaea PMID:12508871|PMID:11837299|GC_ID:11|PMID:8863415|PMID:8240958|PMID:10425758|PMID:7857789 NCBITaxon:802 ncbi_taxonomy owl:Class GO:0071826 biolink:NamedThing ribonucleoprotein complex subunit organization Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. tmpaxzxjjyw_mondo_relaxed.owl RNA-protein complex subunit organization|protein-RNA complex subunit organization|ribonucleoprotein complex subunit organisation owl:Class NCBITaxon:482538 biolink:NamedThing Cystoisospora belli tmpaxzxjjyw_mondo_relaxed.owl Isospora belli GC_ID:1 NCBITaxon:59309 ncbi_taxonomy owl:Class MONDO:0014612 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene. tmpaxzxjjyw_mondo_relaxed.owl PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 4|PFBMFT4 Orphanet:2032|OMIM:616371|UMLS:C4225347 owl:Class MONDO:0033630 biolink:NamedThing neurodevelopmental disorder with speech impairment and dysmorphic facies tmpaxzxjjyw_mondo_relaxed.owl NEDSID OMIM:619056 owl:Class MONDO:0016328 biolink:NamedThing fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:217591|UMLS:CN226902 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: disorder of fatty acid oxidation and ketogenesis' MONDO_0017713 owl:Class MONDO:0032697 biolink:NamedThing neurodevelopmental disorder and language delay with or without structural brain abnormalities tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES|NEDLBA OMIM:618354 owl:Class HP:0030050 biolink:NamedThing Narcolepsy An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:60380001|MSH:D009290|UMLS:C0027404 There are two distinct groups of patients with narcolepsy, ie, those having narcolepsy with cataplexy and those having narcolepsy without cataplexy. human_phenotype owl:Class MONDO:0012657 biolink:NamedThing Mungan syndrome tmpaxzxjjyw_mondo_relaxed.owl pseudoobstruction, chronic idiopathic intestinal, with Barrett esophagus and Cardiac abnormalities|MUNGAN syndrome|visceral neuromyopathy familial with pseudoobstruction megaduodenum Barrett esophagus and cardiac abnormalities|pseudoobstruction chronic idiopathic intestinal with Barrett esophagus and cardiac abnormalities|MGS|visceral Neuromyopathy, familial, with pseudoobstruction, Megaduodenum, Barrett esophagus, and Cardiac abnormalities OMIM:611376|GARD:0010687|MESH:C548078 owl:Class GO:0009206 biolink:NamedThing purine ribonucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine ribonucleoside triphosphate biosynthesis|purine ribonucleoside triphosphate formation|purine ribonucleoside triphosphate synthesis|purine ribonucleoside triphosphate anabolism owl:Class MONDO:0010109 biolink:NamedThing tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities tmpaxzxjjyw_mondo_relaxed.owl tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality|tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities|Madokoro Ohdo Sonoda syndrome MESH:C536496|OMIM:273390|GARD:0005146|GARD:0003348 https://rarediseases.info.nih.gov/diseases/3348/madokoro-ohdo-sonoda-syndrome|https://rarediseases.info.nih.gov/diseases/5146/tetraamelia-with-ectodermal-dysplasia-and-lacrimal-duct-abnormalities owl:Class MONDO:0011548 biolink:NamedThing cerebral palsy, ataxic, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl Acp|cerebral palsy, ataxic, autosomal recessive|ataxic cerebral palsy|cerebral palsy ataxic ICD9:343.8|OMIM:605388|GARD:0010451 https://rarediseases.info.nih.gov/diseases/10451/cerebral-palsy-ataxic owl:Class MONDO:0000397 biolink:NamedThing ataxic cerebral palsy A form of cerebral palsy caused by damage to cerebellar structures. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0394005|ICD9:343.8|DOID:0050670|NCIT:C97168|SCTID:278512001 owl:Class MONDO:0030026 biolink:NamedThing retinal dystrophy with leukodystrophy tmpaxzxjjyw_mondo_relaxed.owl RDLKD|RETINAL DYSTROPHY WITH LEUKODYSTROPHY|retinal dystrophy with leukodystrophy OMIM:618863 owl:Class MONDO:0032662 biolink:NamedThing intellectual developmental disorder, autosomal recessive 67 tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67|Mental Retardation, Autosomal Recessive 67|MRT67 OMIM:618295 owl:Class UBERON:0015178 biolink:NamedThing somite border tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017049 biolink:NamedThing hypomyelination neuropathy-arthrogryposis syndrome Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons. tmpaxzxjjyw_mondo_relaxed.owl Boylan-dew syndrome UMLS:CN202399|OMIM:616287|OMIM:616286|Orphanet:2680 owl:Class MONDO:0002904 biolink:NamedThing echolalia A symptom of neurologic or psychiatric dysfunction in which the individual involuntarily and meaninglessly repeats a recently heard word, series of words, or a song. tmpaxzxjjyw_mondo_relaxed.owl echolalia|echolalia (disease) echolalia (disease) HP:0010529|DOID:4188|NCIT:C97166|MESH:D004454 owl:Class UBERON:0001250 biolink:NamedThing red pulp of spleen tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:1000023 biolink:NamedThing spleen pulp tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014480 biolink:NamedThing 46,XY sex reversal 9 tmpaxzxjjyw_mondo_relaxed.owl 46,XY SEX reversal 9|46,XY sex reversal 9|46,XY Sex reversal, Zfpm2-related|46,XY Sex reversal type 9|SRXY9 UMLS:C4015129|Orphanet:251510|DOID:0111770|OMIM:616067 owl:Class MONDO:0006021 biolink:NamedThing Prinzmetal angina A syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). For a portion of patients Prinzmetal's angina may be a manifestation of vasospastic disorder and is associated with migraine, Raynaud's phenomenon or aspirin-induced asthma. tmpaxzxjjyw_mondo_relaxed.owl variant angina|Prinzmetal's angina|variant angina pectoris|angina inversa|Prinzmetal's variant angina SCTID:23687008|EFO:1000013|Wikipedia:Prinzmetal's_angina|UMLS:C2931193|GARD:0007465|NCIT:C66915|ICD9:413.1|DOID:0111151|SCTID:87343002|MESH:D000788|UMLS:C0002963 Potentially caused by mutations in smooth muscle K+ channel.nA syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries). owl:Class MONDO:0005356 biolink:NamedThing coronary vasospasm Sudden coronary artery smooth muscle contraction leading to lumen constriction and decreased blood flow. tmpaxzxjjyw_mondo_relaxed.owl coronary vasospasm|coronary artery vasospasm|coronary artery spasm NCIT:C34515|DOID:11840|ICD9:413.9|SCTID:23687008|MESH:D003329|EFO:0004225|UMLS:C0010073 owl:Class MONDO:0004052 biolink:NamedThing rectal cloacogenic carcinoma A carcinoma that arises from the transitional zone at the junction of the rectum and anus. tmpaxzxjjyw_mondo_relaxed.owl rectal transition zone carcinoma|transitional zone carcinoma of rectum|transition zone carcinoma of the rectum|rectal transitional zone carcinoma|transitional zone carcinoma of the rectum|transition zone carcinoma of rectum|rectal cloacogenic carcinoma|cloacogenic carcinoma of rectum|cloacogenic carcinoma of the rectum DOID:6959|NCIT:C5555|UMLS:C1333074 owl:Class MONDO:0017711 biolink:NamedThing pancreatic colipase deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:309108|OMIM:614338|ICD10:K90.3|ICD9:277.89|UMLS:C0268241|SCTID:69478001 owl:Class CHEBI:33459 biolink:NamedThing pnictogen oxoanion tmpaxzxjjyw_mondo_relaxed.owl pnictogen oxoanions|pnictogen oxoanion owl:Class MONDO:0007994 biolink:NamedThing micromelic bone dysplasia with cloverleaf skull tmpaxzxjjyw_mondo_relaxed.owl micromelic bone dysplasia with cloverleaf skull OMIM:156830|Orphanet:93274|Orphanet:2655|MESH:C536429 owl:Class MONDO:0016243 biolink:NamedThing hemoglobin E disease Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation. tmpaxzxjjyw_mondo_relaxed.owl hemoglobin E disease|Hb-E disease UMLS:C0238159|NCIT:C35287|MedDRA:10053215|DOID:5379|ICD10:D58.2|GARD:0002641|SCTID:25065001|Orphanet:2133|ICD9:282.7 https://rarediseases.info.nih.gov/diseases/2641/hemoglobin-e-disease owl:Class HGNC:29316 biolink:NamedThing ZSWIM6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008229 biolink:NamedThing peroneal nerve, accessory deep tmpaxzxjjyw_mondo_relaxed.owl peroneal nerve, accessory deep|accessory deep peroneal nerve GARD:0008546|MESH:C536001|OMIM:170980|UMLS:C1868426 https://rarediseases.info.nih.gov/diseases/8546/accessory-deep-peroneal-nerve owl:Class MONDO:0008481 biolink:NamedThing spondylosis, cervical tmpaxzxjjyw_mondo_relaxed.owl spondylosis, cervical SCTID:387800004|OMIM:184300|UMLS:C1384641 owl:Class NCBITaxon:45258 biolink:NamedThing Rickettsia conorii subsp. israelensis tmpaxzxjjyw_mondo_relaxed.owl Israeli tick typhus rickettsia PMID:15766388|GC_ID:11 NCBITaxon:317864 ncbi_taxonomy owl:Class MONDO:0007555 biolink:NamedThing epidermolysis bullosa simplex Ogna type Epidermolysis bullosa simplex, Ogna type (EBS-O) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by sometimes widespread, primarily acral blistering. tmpaxzxjjyw_mondo_relaxed.owl EBS-O|EBS-Og|EBSOG|epidermolysis bullosa simplex, Ogna type ICD9:757.39|GARD:0002148|SCTID:398071000|MESH:C535962|OMIM:131950|ICD10:Q81.0|DOID:0060736|Orphanet:79401 https://rarediseases.info.nih.gov/diseases/2148/epidermolysis-bullosa-simplex-ogna-type owl:Class MONDO:0012791 biolink:NamedThing mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA. tmpaxzxjjyw_mondo_relaxed.owl encephalomyopathy|mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive|mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria|mitochondrial encephalomyopathy aminoacidopathy|mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, Sucla2-related|mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)|mitochondrial encephalomyopathy-aminoacidopathy syndrome|mitochondrial DNA depletion syndrome 5|MTDPS5|mitochondrial DNA depletion syndrome type 5|booth-Haworth-Dilling syndrome Orphanet:1933|DOID:0080124|MESH:C567624|ICD10:G71.3|Orphanet:254803|GARD:0003681|OMIM:612073 https://rarediseases.info.nih.gov/diseases/3681/encephalomyopathy owl:Class MONDO:0024637 biolink:NamedThing malignant soft tissue neoplasm A malignant neoplasm arising exclusively from the soft tissues. tmpaxzxjjyw_mondo_relaxed.owl malignant tumor of soft tissue|malignant tumor of the soft tissue|malignant neoplasm of soft tissue|malignant neoplasm of the soft tissue|malignant soft tissue neoplasm|malignant soft tissue tumor NCIT:C4867|SCTID:269469005 owl:Class UBERON:0012299 biolink:NamedThing mucosa of urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002385 biolink:NamedThing benign cystic nephroma A benign encapsulated neoplasm of the kidney, characterized by the presence of cysts separated by septa. There are no solid areas present. The septa are lined by one layer of epithelial cells that have eosinophilic or clear cytoplasm. The cystic spaces contain serous or hemorrhagic fluid. tmpaxzxjjyw_mondo_relaxed.owl benign multilocular cystic nephroma|benign cystic nephroma|cystic nephroma EFO:1000213|DOID:2673|UMLS:C1266138|NCIT:C7504|ICDO:8959/0 owl:Class PATO:0002468 biolink:NamedThing distensible A structure quality inhering in a bearer by virtue of the bearer's being capable of swelling or stretching. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022781 biolink:NamedThing cleft lip palate-tetraphocomelia tmpaxzxjjyw_mondo_relaxed.owl GARD:0001383 https://rarediseases.info.nih.gov/diseases/1383/cleft-lip-palate-tetraphocomelia owl:Class MONDO:0030293 biolink:NamedThing angioedema, hereditary, 5 tmpaxzxjjyw_mondo_relaxed.owl HAE5|angioedema, hereditary, 5 OMIM:619361 owl:Class NCBITaxon:31969 biolink:NamedThing Mollicutes tmpaxzxjjyw_mondo_relaxed.owl Paramycetes|mycoplasmas|Mycoplasmas and walled relatives GC_ID:11|PMID:8863414|PMID:8863413|PMID:2592342|PMID:15143038|PMID:17978244|PMID:11321122|PMID:23606477|PMID:8123554 ncbi_taxonomy owl:Class MONDO:0007756 biolink:NamedThing hyperkeratosis lenticularis perstans tmpaxzxjjyw_mondo_relaxed.owl hyperkeratosis lenticularis perstans of Flegel|Flegel's disease|hyperkeratosis lenticularis perstans|Flegel disease|HLP|hyperkeratosis lenticularis perstans (disease) hyperkeratosis lenticularis perstans (disease) UMLS:C0263420|Orphanet:409|GARD:0002824|HP:0007570|MESH:C538377|OMIM:144150|SCTID:28488007|MedDRA:10071311 owl:Class GO:0044273 biolink:NamedThing sulfur compound catabolic process The chemical reactions and pathways resulting in the breakdown of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. tmpaxzxjjyw_mondo_relaxed.owl sulfur compound degradation|sulfur compound catabolism|sulfur compound breakdown|sulfur catabolism|sulfur catabolic process owl:Class MONDO:0004469 biolink:NamedThing pseudovascular skin squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl pseudovascular skin squamous cell carcinoma|skin pseudovascular squamous cell carcinoma DOID:8122|UMLS:C1335974|NCIT:C27542 owl:Class HGNC:175 biolink:NamedThing ACVRL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016970 biolink:NamedThing partial trisomy of the long arm of chromosome 20 tmpaxzxjjyw_mondo_relaxed.owl partial duplication of chromosome 20q|partial trisomy of chromosome 20q|partial trisomy of the long arm of chromosome type 20|partial duplication of the long arm of chromosome 20 Orphanet:262995 owl:Class NCBITaxon:135621 biolink:NamedThing Pseudomonadaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class NCBITaxon:72274 biolink:NamedThing Pseudomonadales tmpaxzxjjyw_mondo_relaxed.owl Pseudomonaceae/Moraxellaceae group|gamma-3 proteobacteria GC_ID:11 ncbi_taxonomy owl:Class MONDO:0011062 biolink:NamedThing aprosencephaly cerebellar dysgenesis tmpaxzxjjyw_mondo_relaxed.owl aprosencephaly and cerebellar dysgenesis Orphanet:1126|MESH:C563331|UMLS:C1832412|ICD10:Q04.3|OMIM:601374 owl:Class CHEBI:140310 biolink:NamedThing phenyl acetates An acetate ester obtained by formal condensation of the carboxy group of acetic acid with the hydroxy group of any phenol. tmpaxzxjjyw_mondo_relaxed.owl a phenyl acetate|phenyl acetate derivatives|phenyl acetate derivative owl:Class MONDO:0015312 biolink:NamedThing choanal atresia, unilateral Unilateral choanal atresia is a, usually sporadic, congenital anomaly that is more commonly seen in females than in males (2:1), where the nose is blocked by bony or soft tissue formed during embryologic development on only one side (more commonly on the right side) and which is characterized by nasal obstruction and rhinorrhea, usually presenting at birth but that may go undetected until a respiratory infection aggravates the condition. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q30.0|Orphanet:137917|UMLS:CN199280 owl:Class MONDO:0013738 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 96 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 1p36.31-p36.13. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 96|autosomal recessive deafness 96|DFNB96|autosomal recessive nonsyndromic deafness type 96|autosomal recessive nonsyndromic deafness 96 DOID:0110538|OMIM:614414|ICD10:H90.3 owl:Class MONDO:0012044 biolink:NamedThing corneal dystrophy, lattice type 3A Lattice corneal dystrophy type 3A is rare condition that affects the cornea. It is characterized primarily by protein clumps in the clear, outer covering of the eye which cloud the cornea and impair vision. Affected people also experience recurrent corneal erosion (separation of certain layers of the cornea), which is associated with severe pain and sensitivity to bright light. Lattice corneal dystrophy type 3A is caused by changes (mutations) in the TGFBI gene and is inherited in an autosomal dominant manner. The condition is usually treated surgically. tmpaxzxjjyw_mondo_relaxed.owl lattice corneal dystrophy type 3A|lattice corneal dystrophy type III A|corneal dystrophy, lattice type IIIA|lattice corneal dystrophy, type 3A|CDL3A MESH:C563923|OMIM:608471|UMLS:C1837974|GARD:0010320|Orphanet:98964 https://rarediseases.info.nih.gov/diseases/10320/lattice-corneal-dystrophy-type-3a owl:Class CL:0002597 biolink:NamedThing smooth muscle cell of bladder A smooth muscle cell of the bladder. tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001122 tmeehan 2011-03-06T05:43:24Z cell owl:Class CHEBI:36080 biolink:NamedThing protein A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. tmpaxzxjjyw_mondo_relaxed.owl proteins owl:Class NCBITaxon:31286 biolink:NamedThing Trypanosoma brucei rhodesiense tmpaxzxjjyw_mondo_relaxed.owl Trypanosoma brucei subsp. rhodesiense|Trypanosoma (Trypanozoon) brucei rhodesiense GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100436 biolink:NamedThing cataract 2, multiple types Any cataract in which the cause of the disease is a mutation in the CRYGC gene. tmpaxzxjjyw_mondo_relaxed.owl cataract 2 multiple types with or without microcornea|cataract 2, multiple types, with or without microcornea|cataract 2 multiple types|CTRCT2|cataract, Coppock-like DOID:0110235|OMIM:604307 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3904 owl:Class MONDO:0007976 biolink:NamedThing mesomelic dwarfism of hypoplastic tibia and radius type tmpaxzxjjyw_mondo_relaxed.owl mesomelic dwarfism of hypoplastic tibia and radius type OMIM:156230|MESH:C563589|UMLS:C1835010|GARD:0007313 https://rarediseases.info.nih.gov/diseases/7313/mesomelic-dwarfism-of-hypoplastic-tibia-and-radius-type owl:Class MONDO:0005752 biolink:NamedThing epidural abscess Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12) tmpaxzxjjyw_mondo_relaxed.owl spinal extradural abscess|intraspinal epidural abscess|intraspinal extradural abscess|spinal epidural abscess|extradural intraspinal abscess|abscess epidural|spinal epidural abscess (disorder) UMLS:C0270629|SCTID:61974008|DOID:11387|MESH:D020802|EFO:0007260 owl:Class MONDO:0001715 biolink:NamedThing basilar artery occlusion tmpaxzxjjyw_mondo_relaxed.owl ICD9:433.01|SCTID:195180004|ICD10:I65.1|ICD9:433.0|ICD9:433.00|DOID:13446 owl:Class MONDO:0023021 biolink:NamedThing dwarfism lethal type advanced bone age tmpaxzxjjyw_mondo_relaxed.owl GARD:0001986 https://rarediseases.info.nih.gov/diseases/1986/dwarfism-lethal-type-advanced-bone-age owl:Class MONDO:0003951 biolink:NamedThing scrotal hemangioma A hemangioma arising from the skin of the scrotum. tmpaxzxjjyw_mondo_relaxed.owl angioma of the scrotum|scrotum hemangioma|hemangioma of the scrotum|angioma of scrotum|scrotal hemangioma|hemangioma of scrotum|scrotal angioma DOID:663|UMLS:C1335936|NCIT:C6387 owl:Class CL:0009031 biolink:NamedThing T cell of appendix A T cell that is located in a vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl T cell of vermiform appendix|T cell of appendix vermiformis|appendix T cell owl:Class MONDO:0013248 biolink:NamedThing Fanconi anemia complementation group O Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene. tmpaxzxjjyw_mondo_relaxed.owl Rad51C Fanconi anemia|Fanconi anemia caused by mutation in Rad51C|Fanconi Anemia, complementation group type O|Fanconi anemia complementation group type O|Fanconi anemia, complementation group O|FANCO|RAD51C Fanconi anemia|Fanconi anemia caused by mutation in RAD51C DOID:0111096|UMLS:C3150653|OMIM:613390 owl:Class MONDO:0015317 biolink:NamedThing laryngotracheal angioma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:137935|SCTID:703199001|UMLS:C3839574|ICD9:228.09|ICD10:D18.0 owl:Class UBERON:0004861 biolink:NamedThing right lung alveolus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004455 biolink:NamedThing classic congenital mesoblastic nephroma A congenital mesoblastic nephroma characterized by the presence of interlacing fascicles of fibroblastic cells, low mitotic activity, and collagen formation. tmpaxzxjjyw_mondo_relaxed.owl classic congenital mesoblastic nephroma NCIT:C39814|UMLS:C1516475|DOID:8083 owl:Class MONDO:0010056 biolink:NamedThing spinal muscular atrophy, type IV Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy, type IV|spinal muscular atrophy, type 4|spinal muscular atrophy, proximal, adult, autosomal recessive|SMA type IV|adult spinal muscular atrophy|spinal muscular atrophy, adult form|SMA-IV|spinal muscular atrophy of adults|proximal spinal muscular atrophy type 4|SMA 4|spinal muscular atrophy type 4|SMA type 4|spinal muscular atrophy 4|SMA4|adult-onset spinal muscular atrophy ICD10:G12.1|GARD:0000564|Orphanet:70|ICD9:335.19|Orphanet:83420|OMIM:271150|DOID:0050529|SCTID:85505000 owl:Class MONDO:0019765 biolink:NamedThing Celosomia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93942|ICD10:Q76.7|ICD9:759.89|SCTID:44518003 owl:Class MONDO:0016066 biolink:NamedThing sternal cleft Sternal cleft (SC) is a rare idiopathic congenital thoracic malformation characterized by a sternal fusion defect, that can be complete or partial (either superior or inferior), that is usually asymptomatic in the neonatal period (apart from a paradoxical midline thoracic bulging) but that can lead to dyspnea, cough, frequent respiratory infections and increased risk of trauma-related injury to the heart, lungs and major vessels if left untreated. tmpaxzxjjyw_mondo_relaxed.owl congenital sternal cleft|sternum bifidum|cleft sternum MESH:C537489|GARD:0005012|ICD9:756.3|SCTID:54008006|Orphanet:2017|UMLS:C2931507|ICD10:Q76.7 https://rarediseases.info.nih.gov/diseases/5012/sternal-cleft owl:Class MONDO:0019197 biolink:NamedThing folinic acid-responsive seizures Folinic acid-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by myoclonic and clonic, or clonic seizures associated with apnea occurring several hours to 5 days after birth and responding to folinic acid. tmpaxzxjjyw_mondo_relaxed.owl Folinic acid responsive seizures Orphanet:79097|UMLS:CN205780|SCTID:717276003|ICD10:G40.3 Editor note: TODO request from CHEBI owl:Class UBERON:0035826 biolink:NamedThing left adrenal gland medulla tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0051460 biolink:NamedThing negative regulation of corticotropin secretion Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of corticotropic hormone from a cell. tmpaxzxjjyw_mondo_relaxed.owl downregulation of adrenocorticotropin secretion|negative regulation of adrenocorticotropic hormone secretion|negative regulation of ACTH secretion|negative regulation of corticotropic hormone secretion|negative regulation of adrenotropic hormone secretion|negative regulation of adrenocorticotropin secretion|inhibition of adrenocorticotropin secretion|down-regulation of adrenocorticotropin secretion|negative regulation of adrenotropin secretion|down regulation of adrenocorticotropin secretion owl:Class NCBITaxon:641 biolink:NamedThing Vibrionaceae tmpaxzxjjyw_mondo_relaxed.owl gamma-3 proteobacteria PMID:4954820|PMID:8427811|GC_ID:11|PMID:15143042 ncbi_taxonomy owl:Class MONDO:0019906 biolink:NamedThing ring chromosome 11 Ring chromosome 11 syndrome is an autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. tmpaxzxjjyw_mondo_relaxed.owl chromosome 11 ring|Ring chromosome type 11|r(11) syndrome|Ring 11|r11|Ring chromosome 11 syndrome|RC11 ICD9:758.89|SCTID:111310003|ICD10:Q93.2|Orphanet:96175|EFO:0002849|GARD:0010846|UMLS:C0265444 https://rarediseases.info.nih.gov/diseases/10846/ring-chromosome-11 owl:Class MONDO:0009144 biolink:NamedThing Ebstein anomaly Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. tmpaxzxjjyw_mondo_relaxed.owl Ebstein's anomaly of tricuspid valve|Ebstein's anomaly (disorder) [ambiguous]|Ebstein anomaly (disease)|Ebstein's anomaly of right atrioventricular valve|Ebstein's anomaly of common atrioventricular valve|Ebstein's malformation|Ebstein malformation|Ebstein's anomaly|Ebstein anomaly|Ebstein anomaly of the tricuspid valve Ebstein anomaly (disease) OMIM:224700|UMLS:C0013481|NCIT:C84681|EFO:0007244|GARD:0006313|ICD9:746.2|ICD10:Q22.5|MedDRA:10014075|Orphanet:1880|DOID:14289|MESH:D004437 owl:Class HGNC:4035 biolink:NamedThing ACKR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012501 biolink:NamedThing mutagen sensitivity tmpaxzxjjyw_mondo_relaxed.owl mutagen sensitivity 2022-04-01 GARD:0008273|OMIM:610452 Reason: out of scope. Term to consider: None https://rarediseases.info.nih.gov/diseases/8273/mutagen-sensitivity owl:Class HGNC:29935 biolink:NamedThing SPATA16 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0009034 biolink:NamedThing dendritic cell of appendix A dendritic cell that is located in a vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl dendritic cell of appendix vermiformis|appendix dendritic cell|dendritic cell of vermiform appendix owl:Class MONDO:0000716 biolink:NamedThing agraphia An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060223|ICD10:R48.8 owl:Class MONDO:0000599 biolink:NamedThing writing disorder A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060047 owl:Class MONDO:0008103 biolink:NamedThing noduli Cutanei, multiple, with urinary tract abnormalities tmpaxzxjjyw_mondo_relaxed.owl noduli Cutanei, multiple, with urinary tract abnormalities OMIM:163850|MESH:C563512|UMLS:C1834143 owl:Class MONDO:0008052 biolink:NamedThing myopathy with storage of glycoproteins and Glycosaminoglycans tmpaxzxjjyw_mondo_relaxed.owl myopathy with storage of glycoproteins and Glycosaminoglycans UMLS:C1834532|OMIM:160570|MESH:C563542 owl:Class MONDO:0002929 biolink:NamedThing pulmonary immaturity tmpaxzxjjyw_mondo_relaxed.owl primary atelectasis, in perinatal period|primary atelectasis of newborn ICD9:770.4|SCTID:42908004|DOID:424|ICD10:P28.0 owl:Class GO:0032352 biolink:NamedThing positive regulation of hormone metabolic process Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving any hormone. tmpaxzxjjyw_mondo_relaxed.owl activation of hormone metabolic process|upregulation of hormone metabolic process|up regulation of hormone metabolic process|positive regulation of hormone metabolism|up-regulation of hormone metabolic process|stimulation of hormone metabolic process owl:Class BFO:0000144 biolink:NamedThing process profile b is a process_profile =Def. there is some process c such that b process_profile_of c (axiom label in BFO2 Reference: [093-002]) tmpaxzxjjyw_mondo_relaxed.owl ProcessProfile process-profile b process_profile_of c holds when b proper_occurrent_part_of c& there is some proper_occurrent_part d of c which has no parts in common with b & is mutually dependent on b& is such that b, c and d occupy the same temporal region (axiom label in BFO2 Reference: [094-005]) On a somewhat higher level of complexity are what we shall call rate process profiles, which are the targets of selective abstraction focused not on determinate quality magnitudes plotted over time, but rather on certain ratios between these magnitudes and elapsed times. A speed process profile, for example, is represented by a graph plotting against time the ratio of distance covered per unit of time. Since rates may change, and since such changes, too, may have rates of change, we have to deal here with a hierarchy of process profile universals at successive levels|One important sub-family of rate process profiles is illustrated by the beat or frequency profiles of cyclical processes, illustrated by the 60 beats per minute beating process of John’s heart, or the 120 beats per minute drumming process involved in one of John’s performances in a rock band, and so on. Each such process includes what we shall call a beat process profile instance as part, a subtype of rate process profile in which the salient ratio is not distance covered but rather number of beat cycles per unit of time. Each beat process profile instance instantiates the determinable universal beat process profile. But it also instantiates multiple more specialized universals at lower levels of generality, selected from rate process profilebeat process profileregular beat process profile3 bpm beat process profile4 bpm beat process profileirregular beat process profileincreasing beat process profileand so on.In the case of a regular beat process profile, a rate can be assigned in the simplest possible fashion by dividing the number of cycles by the length of the temporal region occupied by the beating process profile as a whole. Irregular process profiles of this sort, for example as identified in the clinic, or in the readings on an aircraft instrument panel, are often of diagnostic significance.|The simplest type of process profiles are what we shall call ‘quality process profiles’, which are the process profiles which serve as the foci of the sort of selective abstraction that is involved when measurements are made of changes in single qualities, as illustrated, for example, by process profiles of mass, temperature, aortic pressure, and so on. (iff (ProcessProfile a) (exists (b) (and (Process b) (processProfileOf a b)))) // axiom label in BFO2 CLIF: [093-002] |(forall (x y) (if (processProfileOf x y) (and (properContinuantPartOf x y) (exists (z t) (and (properOccurrentPartOf z y) (TemporalRegion t) (occupiesSpatioTemporalRegion x t) (occupiesSpatioTemporalRegion y t) (occupiesSpatioTemporalRegion z t) (not (exists (w) (and (occurrentPartOf w x) (occurrentPartOf w z))))))))) // axiom label in BFO2 CLIF: [094-005] owl:Class UBERON:0005027 biolink:NamedThing mucosa of frontal sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1901264 biolink:NamedThing carbohydrate derivative transport The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4839 biolink:NamedThing HCFC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6248 biolink:NamedThing Strongyloides stercoralis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007205 biolink:NamedThing diaphyseal medullary stenosis-bone malignancy syndrome Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma). tmpaxzxjjyw_mondo_relaxed.owl BDMF|bone dysplasia with malignant fibrous histiocytoma|DMS-MFH|DMSMFH|diaphyseal medullary stenosis-bone malignancy syndrome|bone dysplasia-medullary fibrosarcoma syndrome|Hardcastle syndrome|myopathy, limb-girdle, with bone fragility|bone dysplasia with medullary fibrosarcoma|Hardcastle's syndrome|diaphyseal medullary stenosis with malignant fibrous histiocytoma|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome GARD:0010072|UMLS:C1862177|OMIM:112250|Orphanet:85182|NCIT:C122660|ICD10:M89.8 owl:Class UBERON:0005086 biolink:NamedThing hair follicle placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1817 biolink:NamedThing Nocardia tmpaxzxjjyw_mondo_relaxed.owl Micropolyspora GC_ID:11|PMID:7537058|PMID:7547284 ncbi_taxonomy owl:Class NCBITaxon:85025 biolink:NamedThing Nocardiaceae tmpaxzxjjyw_mondo_relaxed.owl Williamsiaceae PMID:30186281|GC_ID:11|PMID:19244447 NCBITaxon:182102 ncbi_taxonomy owl:Class HGNC:11336 biolink:NamedThing SSX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033642 biolink:NamedThing neurodevelopmental disorder with alopecia and brain abnormalities tmpaxzxjjyw_mondo_relaxed.owl NEDABA OMIM:619075 owl:Class MONDO:0016837 biolink:NamedThing 16p13.11 microduplication syndrome 16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. tmpaxzxjjyw_mondo_relaxed.owl dup(16)(p13.11)|trisomy 16p13.11 SCTID:719578005|GARD:0013392|Orphanet:261243|UMLS:CN202173|UMLS:C4304595|ICD10:Q92.3 https://rarediseases.info.nih.gov/diseases/13392/16p1311-microduplication-syndrome owl:Class UBERON:0015795 biolink:NamedThing right lung lobar bronchus epitheium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018494 biolink:NamedThing microcephaly-short stature-intellectual disability-facial dysmorphism syndrome Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome is a rare genetic malformation syndrome with short stature characterized by postnatal microcephaly, failure to thrive and short stature, global developmental delay and intellectual disability, hypotonia, dysmorphic features (short nose, depressed nasal bridge, low set ears, short neck, clinodactyly and cutaneous syndactyly of T2-3 at birth and broad forehead, midface retrusion, epicanthal folds, laterally sparse eyebrows, short nose, long philtrum, widely spaced teeth, micrognathia and coarsening of facial features later in life). Other associated features include postnatal transient generalized edema, myopia, strabismus, hypothyroidism. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237496|ICD10:Q87.1|Orphanet:423306 owl:Class MONDO:0026720 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 12 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12|MC1DN12 OMIM:301020 owl:Class CHEBI:16541 biolink:NamedThing protein polypeptide chain A naturally occurring polypeptide synthesized at the ribosome. tmpaxzxjjyw_mondo_relaxed.owl protein polypeptide chains|Protein|polypeptide chain owl:Class CHEBI:59999 biolink:NamedThing chemical substance A chemical substance is a portion of matter of constant composition, composed of molecular entities of the same type or of different types. tmpaxzxjjyw_mondo_relaxed.owl Chemische Substanz owl:Class MONDO:0008517 biolink:NamedThing syndactyly-polydactyly-ear lobe syndrome tmpaxzxjjyw_mondo_relaxed.owl hallux syndactyly ulnar polydactyly abnormal ear lobes|Spel syndrome|syndactyly-polydactyly-earlobe syndrome UMLS:C1861347|Orphanet:3259|MESH:C566091|GARD:0005090|OMIM:186350 owl:Class MONDO:0018607 biolink:NamedThing combined hamartoma of the retina and retinal pigment epithelium tmpaxzxjjyw_mondo_relaxed.owl CHR-RPE|combined hamartoma of the retina and RPE UMLS:C1862062|UMLS:CN237641|Orphanet:440727 owl:Class HGNC:32434 biolink:NamedThing SLC38A8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr10q24 biolink:NamedThing 10q24 (Human) tmpaxzxjjyw_mondo_relaxed.owl 104000000 95300000 hg38 owl:Class MONDO:0014903 biolink:NamedThing seizures, benign familial infantile, 5 Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene. tmpaxzxjjyw_mondo_relaxed.owl benign familial infantile epilepsy caused by mutation in SCN8A|seizures, benign familial infantile, 5|BFIS5|SCN8A benign familial infantile epilepsy|convulsions, benign familial infantile, 5|seizures, benign familial infantile, type 5|seizures, benign familial infantile, 5; BFIS5 UMLS:C4310728|OMIM:617080 owl:Class MONDO:0005803 biolink:NamedThing hyperinsulinemic hypoglycemia An inherited autosomal recessive syndrome characterized by the disorganized formation of new islets in the pancreas and congenital hyperinsulinism. It is due to focal hyperplasia of pancreatic islet cells budding off from the ductal structures and forming new islets of langerhans. Mutations in the islet cells involve the potassium channel gene kcnj11 or the atp-binding cassette transporter gene abcc8, both on chromosome 11. tmpaxzxjjyw_mondo_relaxed.owl nesidioblastosis|persistent hyperinsulinemia hypoglycemia of infancy|hyperinsulinemic hypoglycemia (disease)|islet cell hyperplasia|hyperinsulinemia hypoglycemia hyperinsulinemic hypoglycemia (disease) OMIM:601820|ICD10:E16.9|OMIM:256450|OMIM:606762|OMIM:610021|DOID:13317|OMIMPS:256450|OMIM:602485|HP:0000825|OMIM:609968|OMIM:609975|SCTID:42681006|EFO:0007318|Orphanet:443095 owl:Class MONDO:0010889 biolink:NamedThing arterial dissection-lentiginosis syndrome Arterial dissection-lentiginosis is a rare association syndrome, reported in several members of two families to date, and characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities). tmpaxzxjjyw_mondo_relaxed.owl arterial dissection with lentiginosis OMIM:600459|ICD10:Q87.8|UMLS:C1838122|Orphanet:1682|MESH:C563937 owl:Class MONDO:0018566 biolink:NamedThing short stature-advanced bone age-early-onset osteoarthritis syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237575|Orphanet:435804|ICD10:M89.8 owl:Class MONDO:0002849 biolink:NamedThing liver rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the liver. tmpaxzxjjyw_mondo_relaxed.owl liver rhabdomyosarcoma|rhabdomyosarcoma of the liver|rhabdomyosarcoma of liver|liver rhabdomyosarcoma (disease)|rhabdomyosarcoma (disease) of liver|hepatic rhabdomyosarcoma UMLS:C1333975|DOID:4047|NCIT:C5834 owl:Class MONDO:0008013 biolink:NamedThing chromosome 9p deletion syndrome Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. tmpaxzxjjyw_mondo_relaxed.owl 9p monosomy|monosomy 9p|9p- syndrome|partial monosomy of chromosome 9p|partial deletion of the short arm of chromosome type 9|9p syndrome|partial deletion of the short arm of chromosome 9|deletion 9p|partial monosomy of the short arm of chromosome 9|partial monosomy 9p|9p deletion|monosomy type 9p|9p deletion syndrome|monosomy 9p syndrome|Alfi syndrome|chromosome 9p deletion|partial deletion of chromosome 9p Orphanet:261112|SCTID:62599000|ICD9:758.39|OMIM:158170|ICD10:Q93.5|MESH:C538024|DOID:0060732|GARD:0003773 owl:Class MONDO:0018727 biolink:NamedThing immunodeficiency due to a complement regulatory deficiency tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:459348 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary immunodeficiency disease' MONDO_0003778 owl:Class MONDO:0015136 biolink:NamedThing immunodeficiency due to a genetic complement cascade protein anomaly tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency due to a complement cascade protein anomaly 2022-03-01 Orphanet:101992|ICD10:D84.1 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary immunodeficiency disease' MONDO_0003778 owl:Class MONDO:0002728 biolink:NamedThing rhabdoid tumor An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor. tmpaxzxjjyw_mondo_relaxed.owl rhabdoid cancer|malignant rhabdoid tumor|rhabdoid sarcoma|rhabdoid tumor|malignant rhabdoid tumour OMIM:613325|ICDO:8963/3|EFO:0005701|UMLS:C0206743|ONCOTREE:MRT|ICD10:C49.9|DOID:3672|NCIT:C3808|MESH:D018335|OMIM:609322|Orphanet:69077|GARD:0007572 owl:Class HP:0011772 biolink:NamedThing Abnormal thyroid morphology A structural abnormality of the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl Abnormal shape of thyroid gland|Abnormality of thyroid morphology UMLS:C4023195 peter 2012-04-22T05:54:57Z human_phenotype owl:Class MONDO:0030855 biolink:NamedThing combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl OIEDS Syndrome 2|OIEDS2|combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 OMIM:619120 owl:Class GO:0009719 biolink:NamedThing response to endogenous stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus arising within the organism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5102 biolink:NamedThing HOXA13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009746 biolink:NamedThing hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever. tmpaxzxjjyw_mondo_relaxed.owl congenital insensitivity to pain with anhidrosis|NTRK1 hereditary sensory and autonomic neuropathy|HSAN IV|neuropathy, congenital sensory, with anhidrosis|HSNAN4|HSAN4|hereditary sensory and autonomic neuropathy type IV|congenital insensitivity to pain-anhidrosis syndrome|insensitivity to pain, congenital, with anhidrosis|CIP-anhidrosis syndrome|CIPA|HSAN 4|hereditary sensory neuropathy type IV|hereditary sensory and autonomic neuropathy caused by mutation in NTRK1|hereditary sensory neuropathy type 4|hereditary sensory and autonomic neuropathy 4|familial dysautonomia, type 2 NCIT:C118633|GARD:3006|DOID:0070146|OMIM:256800|Orphanet:642|SCTID:62985007|PMID:14272277|GARD:0003006|PMID:8696348|ICD10:G60.8|UMLS:C0020074 owl:Class HGNC:11494 biolink:NamedThing SYN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006990 biolink:NamedThing suppurative uveitis Intraocular infection caused mainly by pus-producing bacteria and rarely by fungi. The infection may be caused by an injury or surgical wound (exogenous) or by endogenous septic emboli in such diseases as bacterial endocarditis or meningococcemia. tmpaxzxjjyw_mondo_relaxed.owl MESH:D015829|UMLS:C0042168|DOID:13140|EFO:1001203 owl:Class MONDO:0010846 biolink:NamedThing exostoses, multiple, type III tmpaxzxjjyw_mondo_relaxed.owl exostoses, multiple, type III|exostoses, multiple, type 3|EXT3 GARD:0002206|MESH:C563975|Orphanet:321|OMIM:600209|UMLS:C1838420 owl:Class MONDO:0012846 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 6 tmpaxzxjjyw_mondo_relaxed.owl GEFSP6|Gefs+, type 6|generalized epilepsy with febrile seizures plus, type 6 Orphanet:36387|OMIM:612279|MESH:C567371|UMLS:C2677078|DOID:0111300 owl:Class MONDO:0006884 biolink:NamedThing panophthalmitis Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10033683|EFO:1001081|DOID:13732|SCTID:33382000|MESH:D010202|ICD9:360.02|UMLS:C0030332 owl:Class MONDO:0001718 biolink:NamedThing scleritis Inflammation of the sclera. tmpaxzxjjyw_mondo_relaxed.owl scleritis|scleritis (disease) scleritis (disease) HP:0100532|DOID:13452|ICD10:H15.0|ICD9:379.00|UMLS:C0036416|MESH:D015423|NCIT:C119046|GARD:0012911|SCTID:78370002|ICD10:H15.00 owl:Class MONDO:0018485 biolink:NamedThing glycogen storage disease due to acid maltase deficiency, late-onset Glycogen storage disease due to acid maltase deficiency, late onset (AMDL), a form of Glycogen storage disease due to acid maltase deficiency (AMD), a degenerative metabolic myopathy particularly affecting respiratory and skeletal muscles, is characterized by an accumulation of glycogen in lysosomes. tmpaxzxjjyw_mondo_relaxed.owl glycogenosis type 2, late-onset|GSD due to acid maltase deficiency, late onset|glycogen storage disease type 2, late onset|glycogen storage disease type 2, late-onset|Alpha-1,4-glucosidase acid deficiency, late onset|GSD due to acid maltase deficiency, late-onset|glycogenosis type II, late-onset|GSD type 2, late-onset|Pompe disease, late onset|GSD type II, late onset|GSD type II, late-onset|glycogenosis type 2, late onset|Pompe disease, late-onset|Alpha-1,4-glucosidase acid deficiency, late-onset|glycogenosis type II, late onset|GSD type 2, late onset|glycogen storage disease type II, late-onset|glycogen storage disease type II, late onset UMLS:C3888925|Orphanet:420429|SCTID:722343009|ICD10:E74.0|UMLS:C0342753 owl:Class HGNC:17866 biolink:NamedThing HAVCR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009272 biolink:NamedThing German syndrome German syndrome is an autosomal recessive arthrogryposis syndrome, described in 5 cases. Three of the four known families with affected children were Ashkenazi Jews. German syndrome is characterized by arthrogryposis, hypotonia-hypokinesia sequence, and lymphedema. Patients present distinct craniofacial appearance (tall forehead and ''carp''-shaped mouth, cleft palate), contractures, severe hypotonia manifesting as motor delay, and swallowing difficulties. The disease has a severe morbidity and mortality rate and survivors present a small stature, hypotonia, frequent upper respiratory infections, and psychomotor delay. There have been no further descriptions in the literature since 1987. tmpaxzxjjyw_mondo_relaxed.owl German syndrome UMLS:C0265373|Orphanet:2077|SCTID:733037000|ICD10:Q87.8|OMIM:231080|MESH:C562543|UMLS:C3887495 owl:Class GO:0007142 biolink:NamedThing male meiosis II A cell cycle process comprising the steps by which a cell progresses through male meiosis II, the second meiotic division in the male germline. tmpaxzxjjyw_mondo_relaxed.owl male meiosis II nuclear division owl:Class NCBITaxon:43817 biolink:NamedThing Culicinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018226 biolink:NamedThing infantile epileptic-dyskinetic encephalopathy Infantile epileptic-dyskinetic encephalopathy is a monogenic disease with epilepsy characterized by developmental delay and infantile spasms in the first months of life, followed by chorea and generalized dystonia and progressing to quadriplegic dyskinesia, recurrent status dystonicus, intractable focal epilepsy and severe intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G40.4|OMIM:308350|Orphanet:364063 owl:Class ENVO:09000007 biolink:NamedThing concentration of carbon atom in environmental material The concentration of a carbon atom when measured in environmental material. tmpaxzxjjyw_mondo_relaxed.owl environmental material carbon atom concentration owl:Class MONDO:0009243 biolink:NamedThing Fraser-like syndrome tmpaxzxjjyw_mondo_relaxed.owl Fraser-like syndrome|Fused eyelids, airway anomalies, ovarian cysts, and digital anomalies MESH:C565562|UMLS:CN200837|Orphanet:2051|UMLS:C1856708|OMIM:229230 owl:Class MONDO:0013285 biolink:NamedThing immunodeficiency, common variable, 5 Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency, common variable, type 5|antibody deficiency due to CD20 defect|common variable immunodeficiency caused by mutation in MS4A1|CVID5|MS4A1 common variable immunodeficiency|immunodeficiency, common variable, 5 UMLS:C3150740|Orphanet:1572|OMIM:613495 owl:Class MONDO:0004904 biolink:NamedThing toxic maculopathy tmpaxzxjjyw_mondo_relaxed.owl toxic maculopathy of retina SCTID:44115007|ICD10:H35.38|ICD9:362.55|UMLS:C0271086|DOID:9867 owl:Class MONDO:0002694 biolink:NamedThing cavernous sinus thrombosis Formation or presence of a blood clot (thrombus) in the cavernous sinus of the brain. Infections of the paranasal sinuses and adjacent structures, craniocerebral trauma, and thrombophilia are associated conditions. Clinical manifestations include dysfunction of cranial nerves iii, iv, V, and vi, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711) tmpaxzxjjyw_mondo_relaxed.owl thrombosis of cavernous venous sinus SCTID:89980009|UMLS:C0238454|DOID:3575|MESH:D020226 owl:Class MONDO:0004444 biolink:NamedThing bladder tubulo-cystic clear cell adenocarcinoma A rare morphologic variant of bladder carcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a tubulo-cystic pattern. tmpaxzxjjyw_mondo_relaxed.owl bladder tubulo-cystic clear cell adenocarcinoma DOID:8050|UMLS:C1511203|NCIT:C39847 owl:Class MONDO:0009062 biolink:NamedThing cystic fibrosis-gastritis-megaloblastic anemia syndrome A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991. tmpaxzxjjyw_mondo_relaxed.owl Lubani Al Saleh Teebi syndrome|cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation|cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability|cystic fibrosis gastritis megaloblastic anemia|cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies|Lubani-Al Saleh-Teebi syndrome GARD:0003303|Orphanet:2575|MESH:C537039|SCTID:720401009|OMIM:219721 owl:Class NCBITaxon:1521262 biolink:NamedThing Polypodiidae tmpaxzxjjyw_mondo_relaxed.owl Polypodiidae GC_ID:1|PMID:21652310 ncbi_taxonomy owl:Class MONDO:0015345 biolink:NamedThing perioral myoclonia with absences Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome. tmpaxzxjjyw_mondo_relaxed.owl POMA Orphanet:139426|SCTID:766815007 owl:Class MONDO:0100336 biolink:NamedThing infectious disease or post-infectious disorder A disease or disorder that result from the presence and activity of a microbial, viral, fungal or parasitic agent, or a disorder that follows infection with an infectious agent but is distinct from the usual manifestations of the infection itself. tmpaxzxjjyw_mondo_relaxed.owl infectious disease or sequela https://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0014408 biolink:NamedThing megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene. tmpaxzxjjyw_mondo_relaxed.owl megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3|megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3|CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome|MPPH3 Orphanet:83473|UMLS:C4014742|OMIM:615938 owl:Class MONDO:0001533 biolink:NamedThing pes anserinus tendinitis or bursitis tmpaxzxjjyw_mondo_relaxed.owl DOID:12475|ICD9:726.61 owl:Class MONDO:0006403 biolink:NamedThing salivary gland carcinoma ex pleomorphic adenoma A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive. tmpaxzxjjyw_mondo_relaxed.owl pleomorphic adenoma carcinoma|salivary gland carcinoma ex pleomorphic adenoma|saliva-secreting gland carcinoma ex pleomorphic adenoma UMLS:C1519172|DOID:297|NCIT:C40410|EFO:1000516 Editor note: DO class placed here as it denotes a salivary gland specific form owl:Class MONDO:0014991 biolink:NamedThing Seckel syndrome 10 Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene. tmpaxzxjjyw_mondo_relaxed.owl Seckel syndrome type 10|Seckel syndrome 10|SCKL10|Seckel syndrome caused by mutation in NSMCE2|NSMCE2 Seckel syndrome UMLS:C4310647|DOID:0070008|OMIM:617253 owl:Class HP:0000999 biolink:NamedThing Pyoderma Any manifestation of a skin disease associated with the production of pus. tmpaxzxjjyw_mondo_relaxed.owl Pus-filled lesion MSH:D011711|UMLS:C0034212|SNOMEDCT_US:70759006 Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. human_phenotype owl:Class MONDO:0054691 biolink:NamedThing immunodeficiency, common variable, 14 tmpaxzxjjyw_mondo_relaxed.owl CVID14|immunodeficiency, common variable, 14|immunodeficiency, COMMON variable, 14 OMIM:617765|UMLS:C4540380 owl:Class MONDO:0017620 biolink:NamedThing congenital sucrase-isomaltase deficiency without starch intolerance tmpaxzxjjyw_mondo_relaxed.owl CSID without starch intolerance|congenital sucrase-isomaltose malabsorption without starch intolerance|disaccharide intolerance without starch intolerance|congenital sucrose intolerance without starch intolerance ICD10:E74.3|Orphanet:306462 owl:Class MONDO:0026723 biolink:NamedThing intellectual developmental disorder, X-linked 108 tmpaxzxjjyw_mondo_relaxed.owl Mental Retardation, X-Linked 108|INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 108|MRX108 OMIM:301024 owl:Class GO:0031947 biolink:NamedThing negative regulation of glucocorticoid biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. tmpaxzxjjyw_mondo_relaxed.owl down regulation of glucocorticoid biosynthetic process|down-regulation of glucocorticoid biosynthetic process|inhibition of glucocorticoid biosynthetic process|downregulation of glucocorticoid biosynthetic process owl:Class UBERON:0005219 biolink:NamedThing hindbrain subarachnoid space tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012671 biolink:NamedThing tremor, hereditary essential, 3 tmpaxzxjjyw_mondo_relaxed.owl ETM3|tremor, hereditary essential, 3 OMIM:611456|MESH:C566949|DOID:0111430|UMLS:C1969617 owl:Class MONDO:0022824 biolink:NamedThing congenital craniosynostosis maternal hyperthyroiditis tmpaxzxjjyw_mondo_relaxed.owl GARD:0001478 https://rarediseases.info.nih.gov/diseases/1478/congenital-craniosynostosis-maternal-hyperthyroiditis owl:Class MONDO:0019125 biolink:NamedThing relapsing polychondritis Relapsing polychondritis (RP) is a rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage with joint, ocular and cardiovascular involvement. tmpaxzxjjyw_mondo_relaxed.owl chondromalacia, systemic|recurrent polychondritis|chronic atrophic polychondritis SCTID:72275000|UMLS:C0032453|Orphanet:728|EFO:1001148|GARD:0007417|ICD9:733.99|NCIT:C157268|DOID:2556|MedDRA:10038304|MESH:D011081|ICD10:M94.1 https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis owl:Class MONDO:0032857 biolink:NamedThing diarrhea 11, malabsorptive, congenital tmpaxzxjjyw_mondo_relaxed.owl DIARRHEA 11, MALABSORPTIVE, CONGENITAL|Intractable Diarrhea of Infancy Syndrome|DIAR11 OMIM:618662 owl:Class MONDO:0020631 biolink:NamedThing epileptic encephalopathy, infantile or early childhood, 2 tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, infantile or early childhood, 2|IECEE2 UMLS:CN757794|OMIM:617829|DOID:0080471 owl:Class MONDO:0014917 biolink:NamedThing developmental and epileptic encephalopathy, 42 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 42|DEE42|CACNA1A early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 42; EIEE42|EIEE42|early infantile epileptic encephalopathy caused by mutation in CACNA1A|epileptic encephalopathy, early infantile, 42 UMLS:C4310716|OMIM:617106|DOID:0080454 owl:Class MONDO:0006898 biolink:NamedThing periarthritis Inflammation of the tissues around a joint. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031037|ICD10:M77.9|DOID:2964|MESH:D010489|MedDRA:10034464|SCTID:50921008|EFO:1001097 owl:Class MONDO:0018556 biolink:NamedThing Lambert-Eaton myasthenic syndrome Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC). tmpaxzxjjyw_mondo_relaxed.owl myasthenic-myopathic syndrome of Lambert-Eaton|Lambert-Eaton syndrome|Eaton-Lambert syndrome|LEMS|Eaton Lambert syndrome|myasthenic syndrome of Lambert-Eaton|Lambert Eaton myasthenic syndrome|Lambert Eaton syndrome MedDRA:10067685|DOID:0050214|UMLS:C0022972|ICD10:G73.1|GARD:0006851|SCTID:56989000|ICD9:358.3|Orphanet:43393|ICD10:G70.80|NCIT:C3155|MESH:D015624 https://rarediseases.info.nih.gov/diseases/6851/lambert-eaton-myasthenic-syndrome owl:Class MONDO:0200000 biolink:NamedThing uterine ligament adenosarcoma An extremely rare adenosarcoma that arises from the uterine ligament. tmpaxzxjjyw_mondo_relaxed.owl adenosarcoma of uterine ligament|uterine ligament adenosarcoma NCIT:C102570|UMLS:C3640823 owl:Class MONDO:0005352 biolink:NamedThing conduct disorder A disorder diagnosed in childhood or adolescence age group characterized by aggressive behavior, deceitfulness, destruction of property or violation of rules that is persistent and repetitive, and within a one year period. tmpaxzxjjyw_mondo_relaxed.owl ICD9:312.89|MESH:D019955|EFO:0004216|ICD10:F91.9|NCIT:C89329|SCTID:430909002|DOID:12995|ICD9:312.9|ICD10:F91 owl:Class HGNC:3544 biolink:NamedThing F7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008045 biolink:NamedThing spinal muscular atrophy-progressive myoclonic epilepsy syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus. tmpaxzxjjyw_mondo_relaxed.owl myoclonus, hereditary, with progressive distal muscular atrophy|Jankovic-Rivera syndrome|spinal muscular atrophy with progressive myoclonic epilepsy|hereditary myoclonus and progressive distal muscular atrophy|SMAPME|myoclonus hereditary progressive distal muscular atrophy|hereditary myoclonus-progressive distal muscular atrophy syndrome|Jankovic Rivera syndrome DOID:0111527|OMIM:159950|MESH:C537563|SCTID:703524005|GARD:0003875|ICD10:G25.3|UMLS:C1834569|Orphanet:2590|GARD:0003044|ICD9:345.10 owl:Class MONDO:0012952 biolink:NamedThing colorectal cancer, susceptibility to, 9 tmpaxzxjjyw_mondo_relaxed.owl CRCS9|colorectal cancer, susceptibility to, 9|colorectal cancer, susceptibility to, on chromosome 16Q OMIM:612590 owl:Class MONDO:0001143 biolink:NamedThing paralytic strabismus tmpaxzxjjyw_mondo_relaxed.owl paralytic squint|incomitant dissociation DOID:10863|ICD10:H49|UMLS:C0152221|HP:0031775|ICD10:H49.9|ICD9:378.5|SCTID:400942002|ICD9:378.50 owl:Class UBERON:0005669 biolink:NamedThing peritoneal cavity mesothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024969 biolink:NamedThing parasitic disease, non-human animal Infections or infestations with parasitic organisms. The infestation may be experimental or veterinary. tmpaxzxjjyw_mondo_relaxed.owl animal parasitic disease|parasitic disease, animal|animal parasitic diseases|disease, animal parasitic|diseases, animal parasitic UMLS:C0030500|MESH:D010273 owl:Class HGNC:20893 biolink:NamedThing BCOR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030017 biolink:NamedThing combined oxidative phosphorylation deficiency 43 tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency 43|COXPD43|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43 OMIM:618851 owl:Class MONDO:0010978 biolink:NamedThing portal vein, cavernous transformation of tmpaxzxjjyw_mondo_relaxed.owl portal vein, cavernous transformation of MESH:C563407|OMIM:601004|UMLS:C1832917 owl:Class MONDO:0016416 biolink:NamedThing diphallia tmpaxzxjjyw_mondo_relaxed.owl Diphallus ICD9:752.69|Orphanet:227|ICD10:Q55.6|SCTID:253851000|GARD:0001872 https://rarediseases.info.nih.gov/diseases/1872/diphallia owl:Class MONDO:0009149 biolink:NamedThing ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998. tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum ICD10:Q87.8|MESH:C565605|Orphanet:1812|UMLS:C1857053|OMIM:225040 owl:Class GO:0045911 biolink:NamedThing positive regulation of DNA recombination Any process that activates or increases the frequency, rate or extent of DNA recombination. tmpaxzxjjyw_mondo_relaxed.owl stimulation of DNA recombination|upregulation of DNA recombination|up regulation of DNA recombination|activation of DNA recombination|up-regulation of DNA recombination owl:Class GO:1903789 biolink:NamedThing regulation of amino acid transmembrane transport Any process that modulates the frequency, rate or extent of amino acid transmembrane transport. tmpaxzxjjyw_mondo_relaxed.owl regulation of amino acid membrane transport owl:Class MONDO:0012732 biolink:NamedThing tremor, hereditary essential, and idiopathic normal pressure hydrocephalus tmpaxzxjjyw_mondo_relaxed.owl tremor, hereditary essential, and idiopathic normal pressure hydrocephalus|ETINPH OMIM:611808|UMLS:C2678494|MESH:C567519 owl:Class MONDO:0017887 biolink:NamedThing renal cell carcinoma associated with neuroblastoma Renal cell carcinoma that develops in patients who are long-term survivors of childhood neuroblastoma. tmpaxzxjjyw_mondo_relaxed.owl renal cell carcinoma associated with neuroblastoma|renal cell carcinoma after neuroblastoma|renal cell cancer associated with neuroblastoma UMLS:C3272295|ICD10:C64|NCIT:C100051|Orphanet:319314 owl:Class MONDO:0016409 biolink:NamedThing primary congenital hypothyroidism Primary congenital hypothyroidism is a type of permanent congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E03.0|Orphanet:226295|ICD10:E03.1 owl:Class MONDO:0016312 biolink:NamedThing 5-fluorouracil poisoning 5-fluorouracil (5-FU) poisoning is a rare intoxication caused by the prolonged, low-dose administration of 5-FU, which is the mainstay of both adjuvant and advanced-disease chemotherapy regimens in colon cancer. 5-FU poisoning is characterized by gastrointestinal (nausea, emesis, diarrhea, anorexia, stomatitis) and hematologic (myelosuppression) toxicities as well as mucositis, alopecia and, occasionally, palmar-plantar dysesthesia (more commonly known as hand-foot syndrome). Women have been reported to experience more 5-FU-related toxicity than men. tmpaxzxjjyw_mondo_relaxed.owl 5-fluorouracil intoxication MESH:C531667|ICD10:T45.1|Orphanet:217064|UMLS:CN201128 owl:Class NCBITaxon:31245 biolink:NamedThing Schistosomatidae tmpaxzxjjyw_mondo_relaxed.owl blood flukes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007312 biolink:NamedThing Charcot-Marie-Tooth disease with ptosis and parkinsonism tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease with ptosis and parkinsonism UMLS:C1861668|MESH:C538079|OMIM:118301 owl:Class MONDO:0004440 biolink:NamedThing pineal region meningioma A meningioma that affects the pineal gland. tmpaxzxjjyw_mondo_relaxed.owl meningioma of pineal area|pineal gland meningioma|pineal body meningioma (disease)|meningioma (disease) of pineal body|pineal area meningioma|meningioma of the pineal area|pineal meningioma|meningioma of the pineal gland|meningioma of the pineal region|meningioma of pineal gland|meningioma of pineal region DOID:8031|UMLS:C1335418|NCIT:C6756 owl:Class MONDO:0003298 biolink:NamedThing vulvar leiomyoma A benign smooth muscle neoplasm arising from the vulva. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of mammalian vulva|mammalian vulva leiomyoma|vulvar leiomyoma UMLS:C1520087|NCIT:C40326|DOID:5142 owl:Class MONDO:0001329 biolink:NamedThing accommodative spasm tmpaxzxjjyw_mondo_relaxed.owl spasm of accommodation UMLS:C0152196|DOID:11637|ICD10:H52.53|ICD9:367.53|SCTID:30069002 owl:Class MONDO:0013972 biolink:NamedThing Perrault syndrome 2 Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene. tmpaxzxjjyw_mondo_relaxed.owl PRLTS2|HARS2 Perrault syndrome|Perrault syndrome 2|Perrault syndrome type 2|Perrault syndrome caused by mutation in HARS2 OMIM:614926|UMLS:C3554105|Orphanet:2855 owl:Class MONDO:0044785 biolink:NamedThing desmoplastic melanoma A melanoma of the skin characterized by a proliferation of atypical spindled melanocytes in the dermis, in a background of abundant collagen. It usually presents as an amelanotic raised nodular lesion. tmpaxzxjjyw_mondo_relaxed.owl desmoplastic cutaneous (skin) melanoma|desmoplastic melanoma NCIT:C37257|ONCOTREE:DESM owl:Class FOODON:00002505 biolink:NamedThing dairy cattle Dairy cattle are a type of cattle bred for the ability to produce large quantities of milk, from which dairy products are made. This class covers both male and female members of a dairy breed. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008833 biolink:NamedThing renal-hepatic-pancreatic dysplasia 1 Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene. tmpaxzxjjyw_mondo_relaxed.owl NPHP3 renal-hepatic-pancreatic dysplasia|renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3|Rhpd|renal-hepatic-pancreatic dysplasia 1|RHPD1|renal-hepatic-pancreatic dysplasia type 1 UMLS:C3715199|OMIM:208540|UMLS:C2673883|Orphanet:294415 owl:Class MONDO:0004728 biolink:NamedThing diabetic macular edema tmpaxzxjjyw_mondo_relaxed.owl SCTID:312912001|UMLS:C0730285|DOID:9191|ICD9:362.07 owl:Class MONDO:0007609 biolink:NamedThing fibromatosis, gingival, 1 Any gingival fibromatosis in which the cause of the disease is a mutation in the SOS1 gene. tmpaxzxjjyw_mondo_relaxed.owl GINGF|fibromatosis, gingival, hereditary|gingival fibromatosis caused by mutation in SOS1|GGF1|fibromatosis, gingival, 1|HGF1|SOS1 gingival fibromatosis|hereditary gingival fibromatosis, 1|fibromatosis gingival, hereditary, 1|SOS1 hereditary gingival fibromatosis|GINGF1|gingival fibromatosis, 1|fibromatosis, gingival, type 1|hereditary gingival fibromatosis caused by mutation in SOS1 UMLS:C0399440|GARD:0006509|UMLS:CN030594|OMIM:135300|Orphanet:2024 https://rarediseases.info.nih.gov/diseases/6509/gingival-fibromatosis-1 owl:Class MONDO:0023153 biolink:NamedThing tuberculous ascites A type of abdominal tuberculosis that is characterized by accumulation of fluid in the abdomen, a swollen abdomen, and slightly raised tubercles of 1–2 mm all over the peritoneum. tmpaxzxjjyw_mondo_relaxed.owl tuberculous ascites UMLS:C0275919|NCIT:C27076|SCTID:4501007 owl:Class GO:0044848 biolink:NamedThing biological phase A distinct period or stage in a biological process or cycle. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012837 biolink:NamedThing inflammatory bowel disease 15 An inflammatory bowel disease that has material basis in variation in the chromosome region 10q21. tmpaxzxjjyw_mondo_relaxed.owl IBD15|inflammatory bowel disease 15|inflammatory bowel disease type 15 UMLS:C2677094|DOID:0110897|MESH:C567381|OMIM:612255 owl:Class MONDO:0001957 biolink:NamedThing critical illness polyneuropathy tmpaxzxjjyw_mondo_relaxed.owl ICD9:357.82|SCTID:230594005|UMLS:C0393851|ICD10:G62.81|DOID:14402 owl:Class MONDO:0021659 biolink:NamedThing combined carcinoid and adenocarcinoma A malignant epithelial neoplasm composed of a mixture of neuroendocrine cells with morphologic and immunohistochemical characteristics of carcinoid tumor and malignant glandular cells. tmpaxzxjjyw_mondo_relaxed.owl composite carcinoid tumor|combined carcinoid and adenocarcinoma|combined carcinoid neoplasm and adenocarcinoma|mixed carcinoid tumor|composite carcinoid|composite carcinoid neoplasm|combined carcinoid tumor and adenocarcinoma|mixed carcinoid neoplasm|adenocarcinoid neoplasm|adenocarcinoid tumor GARD:0005741|UMLS:C0334302|ICDO:8245/3|ICDO:8244/3|MESH:C538230|NCIT:C4139 owl:Class HGNC:11365 biolink:NamedThing STAT4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007158 biolink:NamedThing lumen of anal canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017844 biolink:NamedThing Sezary syndrome Sezary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sezary cells). tmpaxzxjjyw_mondo_relaxed.owl SS|Sezary disease|CTCL / Sezary syndrome|Sezary's lymphoma|Sezary lymphoma|Sezary's disease|cutaneous T-cell lymphoma/Sezary syndrome|Sézary syndrome|Sezary syndrome|Sézary lymphoma|SC)zary syndrome ONCOTREE:SS|SCTID:118611004|ICD9:202.2|DOID:8541|ICD10:C84.10|ICDO:9701/3|EFO:1000785|NCIT:C3366|MedDRA:10040500|UMLS:C0036920|ICD10:C84.1|MedDRA:10040493|MESH:D012751|Orphanet:3162|GARD:0007629 owl:Class CHEBI:144644 biolink:NamedThing a tetracycline zwittterion tmpaxzxjjyw_mondo_relaxed.owl a tetracycline owl:Class MONDO:0030034 biolink:NamedThing epilepsy, progressive myoclonic, 11 tmpaxzxjjyw_mondo_relaxed.owl EPILEPSY, PROGRESSIVE MYOCLONIC, 11|EPM11|epilepsy, progressive myoclonic, 11 OMIM:618876 owl:Class MONDO:0032868 biolink:NamedThing lessel-kubisch syndrome tmpaxzxjjyw_mondo_relaxed.owl LESSEL-KUBISCH SYNDROME|LSKB OMIM:618681 owl:Class MONDO:0000302 biolink:NamedThing basidiobolomycosis A disease caused by infection with Basidiobolus. tmpaxzxjjyw_mondo_relaxed.owl Basidiobolus infectious disease|Basidiobolus caused disease or disorder|Basidiobolus disease or disorder|basidiobolomycosis|infection by Basidiobolus|infection caused by Basidiobolus SCTID:4921002|MEDGEN:575966|DOID:0050278|UMLS:C0343965 owl:Class MONDO:0016310 biolink:NamedThing Niemann-Pick disease type C, adult neurologic onset tmpaxzxjjyw_mondo_relaxed.owl ICD10:E75.2|UMLS:CN201116|Orphanet:216986 owl:Class HGNC:11055 biolink:NamedThing SLC6A8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003348 biolink:NamedThing conventional leiomyosarcoma An uncommon, aggressive malignant smooth muscle neoplasm. It is characterized by the presence of atypical large spindle or round cells, nuclear palisading, tumor cell necrosis, mitotic figures and may be associated with vascular invasion. tmpaxzxjjyw_mondo_relaxed.owl classic leiomyosarcoma|conventional leiomyosarcoma UMLS:C1333157|NCIT:C9428|DOID:5253 owl:Class MONDO:0004835 biolink:NamedThing necrotizing fasciitis Necrotizing fasciitis is a serious infection of the skin, the tissue just beneath the skin (subcutaneous tissue), and the tissue that covers internal organs (fascia). Necrotizing fasciitis can be caused by several different types of bacteria, and the infection can arise suddenly and spread quickly. Early signs include flu-like symptoms and redness and pain around the infection site. A prompt diagnosis and treatment are essential.If the infection is not treated promptly, it can lead to multiple organ failure and death. Treatment typically includes intravenous (IV) antibiotics and surgery to remove infected and dead tissue. tmpaxzxjjyw_mondo_relaxed.owl MESH:D019115|DOID:9602|ICD10:M72.6|ICD9:728.86|SCTID:52486002|GARD:0006454|NCIT:C84916|UMLS:C0238124 https://rarediseases.info.nih.gov/diseases/6454/necrotizing-fasciitis owl:Class GO:0015276 biolink:NamedThing ligand-gated ion channel activity Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. tmpaxzxjjyw_mondo_relaxed.owl ionotropic receptor activity owl:Class MONDO:0008485 biolink:NamedThing sebocystomatosis Sebocystomatosis is characterized by multiple (100 to 2000) asymptomatic dermal cysts that usually occur on the sternal region, upper back, axillae and proximal parts of the extremities. tmpaxzxjjyw_mondo_relaxed.owl sebaceous cysts, multiple|Steatocystoma multiplex|multiple sebaceous cysts|multiplex steatocystoma|STEATOCYSTOMA multiplex SCTID:109433009|DOID:0111556|GARD:0005003|ICD10:L72.2|UMLS:C3671377|UMLS:C0259771|OMIM:184500|Orphanet:841 owl:Class MONDO:0014966 biolink:NamedThing periventricular nodular heterotopia 7 Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene. tmpaxzxjjyw_mondo_relaxed.owl periventricular nodular heterotopia caused by mutation in NEDD4L|NEDD4L periventricular nodular heterotopia|PVNH7|periventricular nodular heterotopia 7; PVNH7|periventricular nodular heterotopia 7|periventricular nodular heterotopia type 7 UMLS:C4310669|OMIM:617201 owl:Class NCBITaxon:31604 biolink:NamedThing Small ruminant morbillivirus tmpaxzxjjyw_mondo_relaxed.owl Pseudorinderpest virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013013 biolink:NamedThing question mark ears, isolated tmpaxzxjjyw_mondo_relaxed.owl question mark ears, isolated|Cosman deformity of the auricle|ears, prominent and constricted|question MARK ears, isolated|auricular cleft, congenital|QME OMIM:612798|Orphanet:137888 owl:Class FOODON:03420236 biolink:NamedThing protein extract, concentrate or isolate Extract, concentrate or isolate high in protein; may contain amino acids, polypeptides and enzymes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004326 biolink:NamedThing sphenoid sinus inverted papilloma A benign neoplasm that arises from the ciliated respiratory mucosa that lines the sphenoid sinus. It results from the invagination and proliferation of epithelial cells in the underlying stroma. tmpaxzxjjyw_mondo_relaxed.owl sphenoidal sinus inverted papilloma|inverted papilloma of the sphenoid sinus|inverted papilloma of sphenoid sinus NCIT:C6841|UMLS:C1336037|DOID:7678 owl:Class MONDO:0001410 biolink:NamedThing postmenopausal atrophic vaginitis Inflammation of the vagina due to thinning of the vaginal wall and decreased lubrication associated with reduced estrogen levels at menopause. tmpaxzxjjyw_mondo_relaxed.owl atrophic vaginitis|senile vaginitis SCTID:52441000|EFO:1001271|UMLS:C0221392|ICD10:N95.2|DOID:11968|ICD9:627.3|MESH:D059268|UMLS:C0156409 owl:Class UBERON:0009032 biolink:NamedThing right pulmonary vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002617 biolink:NamedThing Vascular dilatation Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. tmpaxzxjjyw_mondo_relaxed.owl Wider than typical opening or gap|Aneurysmal disease|Aneurysms|Aneurysmal dilatation|Aneurysm UMLS:C4020848|SNOMEDCT_US:432119003|MSH:D000783|SNOMEDCT_US:85659009|UMLS:C0002940|Fyler:2399 Aneurysm is considered a severe form of dilatation. human_phenotype owl:Class HGNC:7459 biolink:NamedThing MT-ND4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021745 biolink:NamedThing psychosocial short stature A growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress. tmpaxzxjjyw_mondo_relaxed.owl Kaspar Hauser syndrome|child abuse dwarfism|abuse dwarfism syndrome|psychosocial dwarfism GARD:0009440|UMLS:C1455735|SCTID:39465007|MESH:C535569 https://rarediseases.info.nih.gov/diseases/9440/psychosocial-short-stature owl:Class GO:0016202 biolink:NamedThing regulation of striated muscle tissue development Any process that modulates the frequency, rate or extent of striated muscle development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011761 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 21 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p24.1-p22.3. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 21|deafness, autosomal dominant 21|autosomal dominant nonsyndromic deafness 21|DFNA21|autosomal dominant deafness 21 MESH:C564634|UMLS:C1846922|DOID:0110551|ICD10:H90.3|OMIM:607017 owl:Class GO:0032259 biolink:NamedThing methylation The process in which a methyl group is covalently attached to a molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008494 biolink:NamedThing cryohydrocytosis A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. tmpaxzxjjyw_mondo_relaxed.owl pseudohyperkalemia Cardiff|hereditary cryohydrocytosis with normal stomatin|stomatocytosis, cold-sensitive|CHC|cryohydrocytosis Orphanet:398088|ICD10:D58.8|Orphanet:90044|GARD:0010184|OMIM:185020|MESH:C535827|UMLS:C1861453 owl:Class CL:0002183 biolink:NamedThing stem cell of gastric gland A stomach epithelial cell that is olumnar in form with a few short apical microvilli; relatively undifferentiated mitotic cell from which other types of gland are derived; few in number, situated in the isthmus region of the gland and base of the gastric pit. tmpaxzxjjyw_mondo_relaxed.owl FMA:62953 tmeehan 2010-08-25T03:57:08Z CL:1000400 cell owl:Class MONDO:0004413 biolink:NamedThing cervical non-keratinizing squamous cell carcinoma A variant of cervical squamous cell carcinoma characterized by the presence of polygonal squamous cells. Intercellular bridges and cytoplasmic keratinization may be present, but keratin pearls are absent. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518366|DOID:7961|NCIT:C40188 owl:Class GO:0001659 biolink:NamedThing temperature homeostasis A homeostatic process in which an organism modulates its internal body temperature. tmpaxzxjjyw_mondo_relaxed.owl thermoregulation owl:Class MONDO:0007226 biolink:NamedThing brachydactyly-nystagmus-cerebellar ataxia syndrome Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients. tmpaxzxjjyw_mondo_relaxed.owl Biemond syndrome|brachydactyly-NYSTAGMUS-cerebellar ataxia|brachydactyly - nystagmus - cerebellar ataxia|Biemond syndrome type 1|brachydactyly, nystagmus and cerebellar ataxia GARD:0000971|MESH:C566192|ICD9:759.89|SCTID:205828009|ICD10:Q87.8|GARD:0000881|OMIM:113400|Orphanet:1246 Editor note: check GARD https://rarediseases.info.nih.gov/diseases/881/biemond-syndrome-type-1 owl:Class MONDO:0012881 biolink:NamedThing major affective disorder 7 tmpaxzxjjyw_mondo_relaxed.owl MAFD7|bipolar affective disorder|major affective disorder 7|major affective disorder type 7 OMIM:612371|MESH:C567529 owl:Class MONDO:0005435 biolink:NamedThing anti-neutrophil antibody associated vasculitis Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. tmpaxzxjjyw_mondo_relaxed.owl EFO:0004826 owl:Class GO:1904783 biolink:NamedThing positive regulation of NMDA glutamate receptor activity Any process that activates or increases the frequency, rate or extent of NMDA glutamate receptor activity. tmpaxzxjjyw_mondo_relaxed.owl upregulation of NMDA receptor|upregulation of NMDA glutamate receptor activity|up regulation of NMDA glutamate receptor activity|positive regulation of N-methyl-D-aspartate selective glutamate receptor activity|upregulation of N-methyl-D-aspartate selective glutamate receptor activity|up-regulation of N-methyl-D-aspartate selective glutamate receptor activity|activation of N-methyl-D-aspartate selective glutamate receptor activity|up regulation of N-methyl-D-aspartate selective glutamate receptor activity|up-regulation of NMDA receptor|up-regulation of NMDA glutamate receptor activity|up regulation of NMDA receptor|activation of NMDA glutamate receptor activity|positive regulation of NMDA receptor|activation of NMDA receptor owl:Class GO:2001259 biolink:NamedThing positive regulation of cation channel activity Any process that activates or increases the frequency, rate or extent of cation channel activity. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cation diffusion facilitator activity|positive regulation of nonselective cation channel activity owl:Class CL:2000027 biolink:NamedThing cerebellum basket cell Any basket cell that is part of a cerebellum. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-25T00:24:03Z cell owl:Class MONDO:0020334 biolink:NamedThing mast cell leukemia Mast cell leukemia is a malignant form of systemic mastocytosis (SM) characterized, most of the time, by the presence of circulating mast cells. tmpaxzxjjyw_mondo_relaxed.owl aleukemic mast cell leukemia|Mast cell leukemia|mast-cell leukemia|SMMCL NCIT:C3169|MedDRA:10056450|Orphanet:98851|Orphanet:158799|DOID:9254|ICD10:C94.3|MESH:D007946|ICDO:9742/3|ICD10:C94.30|ONCOTREE:SMMCL|UMLS:C0023461|SCTID:110002002|EFO:0007359 owl:Class MONDO:0013607 biolink:NamedThing monocytopenia with susceptibility to infections tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 21|combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections|immunodeficiency type 21|monocytopenia and mycobacterial infection syndrome|GATA2 deficiency|Dendritic cell, monocyte, B and NK lymphoid deficiency|combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections|IMD21|DCML|monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia|monocyte-B-natural killer-dendritic cell deficiency syndrome|MonoMAC|monocyte - B - natural killer - dendritic cell deficiency|Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency GARD:0010934|UMLS:C3280030|OMIM:614172|Orphanet:228423|ICD10:D72.8 owl:Class MONDO:0017104 biolink:NamedThing central nervous system cystic malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:269194 owl:Class MONDO:0016758 biolink:NamedThing microcephaly-brain defect-spasticity-hypernatremia syndrome Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986. tmpaxzxjjyw_mondo_relaxed.owl microcephaly brain defect spasticity hypernatremia|microcephaly - brain defect - spasticity - hypernatremia|Franek-Bocker-Kahlen syndrome ICD10:G98|GARD:0003607|UMLS:CN202009|Orphanet:2523 https://rarediseases.info.nih.gov/diseases/3607/microcephaly-brain-defect-spasticity-hypernatremia owl:Class MONDO:0012519 biolink:NamedThing Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders. tmpaxzxjjyw_mondo_relaxed.owl Rsts deletion syndrome|Rubinstein-Taybi deletion syndrome|16p13.3 deletion syndrome|chromosome 16p13.3 deletion syndrome, proximal ICD10:Q87.2|Orphanet:783|UMLS:C1864648|GARD:0010754|Orphanet:353281|OMIM:610543 https://rarediseases.info.nih.gov/diseases/10754/chromosome-16p133-deletion-syndrome owl:Class MONDO:0022752 biolink:NamedThing chromosome 16p13.3 deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl RSTS, Severe|Rubinstein-Taybi syndrome, Severe UMLS:C3502510|MESH:C566433 owl:Class MONDO:0017422 biolink:NamedThing adactyly of hand tmpaxzxjjyw_mondo_relaxed.owl fingers absent Orphanet:294931|ICD10:Q71.3 owl:Class MONDO:0017965 biolink:NamedThing syndrome with 46,XX disorder of sex development tmpaxzxjjyw_mondo_relaxed.owl syndrome with 46,XX DSD 2022-03-01 Orphanet:325109|UMLS:CN204115 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0020849 biolink:NamedThing immunodeficiency 57 tmpaxzxjjyw_mondo_relaxed.owl IMMUNODEFICIENCY 57|IMD57 OMIM:618108 owl:Class MONDO:0011682 biolink:NamedThing episodic ataxia type 3 Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia. tmpaxzxjjyw_mondo_relaxed.owl episodic ataxia-vertigo-tinnitus-myokymia syndrome|episodic ataxia, type 3|EA3|ataxia, episodic, with vertigo and tinnitus OMIM:606554|DOID:0050991|UMLS:C1847839|ICD10:G11.8|SCTID:718755009|MESH:C564697|Orphanet:79135 owl:Class MONDO:0016081 biolink:NamedThing coronary arterial fistulas Coronary arterial fistulas are a connection between one or more of the coronary arteries and a cardiac chamber or great vessel. tmpaxzxjjyw_mondo_relaxed.owl coronary arterial malformations|Coronaro-cardiac fistula Orphanet:2041|MedDRA:10069441|GARD:0001533|ICD10:Q24.5 owl:Class MONDO:0013332 biolink:NamedThing brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation|brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability|Tsukahara syndrome OMIM:613627|SCTID:719162001|UMLS:C3150890 owl:Class MONDO:0018703 biolink:NamedThing isolated splenogonadal fusion tmpaxzxjjyw_mondo_relaxed.owl SGF Orphanet:457083|ICD10:Q89.0|UMLS:CN242095 owl:Class MONDO:0020461 biolink:NamedThing epiblepharon tmpaxzxjjyw_mondo_relaxed.owl SCTID:253212001|ICD10:Q10.3|ICD9:743.63|Orphanet:99169 owl:Class MONDO:0008781 biolink:NamedThing juvenile amyotrophic lateral sclerosis with dementia A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. tmpaxzxjjyw_mondo_relaxed.owl ALS-dementia Complex|amyotrophic lateral sclerosis, juvenile, with dementia|ALS-dementia complex MESH:C565956|UMLS:C1859806|DOID:0110067|OMIM:205200 owl:Class MONDO:0012257 biolink:NamedThing Cerebrorenodigital syndrome tmpaxzxjjyw_mondo_relaxed.owl CEREBRORENODIGITAL syndrome with limb malformations and triradiate acetabula MESH:C563731|OMIM:609345|ICD10:Q87.8|Orphanet:1396|UMLS:C1836287 owl:Class GO:0014054 biolink:NamedThing positive regulation of gamma-aminobutyric acid secretion Any process that activates or increases the frequency, rate or extent of the regulated release of gamma-aminobutyric acid. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of gamma-aminobutyric acid secretion|stimulation of gamma-aminobutyric acid secretion|up regulation of gamma-aminobutyric acid secretion|positive regulation of GABA secretion|activation of gamma-aminobutyric acid secretion|upregulation of gamma-aminobutyric acid secretion owl:Class MONDO:0019440 biolink:NamedThing wild type ABeta2M amyloidosis tmpaxzxjjyw_mondo_relaxed.owl dialysis-related arthropathy|DRA|wild type ABeta2-microglobulinic amyloidosis|amyloidosis dialysis-related|Beta-2-microglobulin amyloidosis|dialysis-related amyloidosis|ABeta2Mwt amyloidosis|amyloidosis beta2m GARD:0010563|SCTID:32599008|ICD10:E85.3|UMLS:CN206197|Orphanet:85446 https://rarediseases.info.nih.gov/diseases/10563/amyloidosis-beta2m owl:Class MONDO:0018590 biolink:NamedThing ABeta2M amyloidosis tmpaxzxjjyw_mondo_relaxed.owl Beta2-microglobulinic amyloidosis Orphanet:439246 owl:Class MONDO:0010285 biolink:NamedThing syndromic X-linked intellectual disability Abidi type X-linked intellectual disability, Abidi type is characterized by X-linked intellectual deficit and mild variable manifestations, including short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes. It has been described in eight affected males from three generations. tmpaxzxjjyw_mondo_relaxed.owl X-linked intellectual disability, Abidi type|intellectual disability, X-linked syndromic, Abidi type|ABIDI X-linked mental retardation syndrome|ABIDI X-linked intellectual disability syndrome|mental retardation, X-linked, syndromic, Abidi type|short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes|syndromic X-linked mental retardation Abidi type|syndromic X-linked intellectual disability Abidi type|MRXSAB|intellectual disability X-linked Abidi type|intellectual disability, X-linked, syndromic, Abidi type|mental retardation, X-linked syndromic, Abidi type GARD:0009157|DOID:0060818|UMLS:C1846056|MESH:C535556|Orphanet:85273|ICD10:Q87.8|OMIM:300262 owl:Class MONDO:0004859 biolink:NamedThing hydrops of gallbladder tmpaxzxjjyw_mondo_relaxed.owl ICD10:K82.1|SCTID:47312008|DOID:9717|UMLS:C0152445|ICD9:575.3 owl:Class MONDO:0007981 biolink:NamedThing metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A tmpaxzxjjyw_mondo_relaxed.owl metachromatic leukodystrophy, adult-onset, with normal arylsulfatase A|metachromatic leukodystrophy, adult-onset, with normal arylsulfatase type a OMIM:156310|Orphanet:512|MESH:C563587|UMLS:C1835007 owl:Class MONDO:0001135 biolink:NamedThing voyeurism A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving observing an unsuspecting person who is naked, disrobing, or engaging in sexual activity. tmpaxzxjjyw_mondo_relaxed.owl MESH:D014843|ICD9:302.82|NCIT:C94360|ICD10:F65.3|SCTID:63835008|DOID:10834 owl:Class GO:2001224 biolink:NamedThing positive regulation of neuron migration Any process that activates or increases the frequency, rate or extent of neuron migration. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of neuron chemotaxis|positive regulation of neuronal migration|positive regulation of neuron guidance owl:Class HGNC:11429 biolink:NamedThing STX11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007231 biolink:NamedThing brachytelephalangy-dysmorphism-Kallmann syndrome Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986. tmpaxzxjjyw_mondo_relaxed.owl BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome OMIM:113480|UMLS:C2931421|Orphanet:1295|MESH:C537101|ICD10:Q87.0 owl:Class MONDO:0007049 biolink:NamedThing acroleukopathy, symmetric tmpaxzxjjyw_mondo_relaxed.owl acroleukopathy, symmetric MESH:C566322|OMIM:102000|UMLS:C1863342 owl:Class HGNC:13503 biolink:NamedThing ZBTB20 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003320 biolink:NamedThing mesenchyme of hip tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2153 biolink:NamedThing CNGB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003980 biolink:NamedThing schwannoma of jugular foramen A rare intracranial schwannoma that affects the jugular foramen. tmpaxzxjjyw_mondo_relaxed.owl schwannoma of the jugular Foramen|jugular foramen schwannoma|neurilemmoma of the jugular Foramen|jugular Foramen neurilemmoma|neurilemmoma of jugular Foramen DOID:6735|NCIT:C5323|UMLS:C1334300 owl:Class MONDO:0017971 biolink:NamedThing 46,XY disorder of sex development due to a cholesterol synthesis defect tmpaxzxjjyw_mondo_relaxed.owl 46,XY DSD due to a cholesterol synthesis defect 2022-03-01 UMLS:CN227234|Orphanet:325511 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class GO:0006837 biolink:NamedThing serotonin transport The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022780 biolink:NamedThing cleft lip palate pituitary deficiency tmpaxzxjjyw_mondo_relaxed.owl GARD:0001382 https://rarediseases.info.nih.gov/diseases/1382/cleft-lip-palate-pituitary-deficiency owl:Class CHEBI:26596 biolink:NamedThing salicylates Any salt or ester arising from reaction of the carboxy group of salicylic acid, or any ester resulting from the condensation of the phenolic hydroxy group of salicylic acid with an organic acid. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024881 biolink:NamedThing secondary malignant neoplasm A malignant neoplasm that arises from a pre-existing lower grade lesion, or as a result of a primary lesion that has spread to secondary sites, or due to a complication of a cancer treatment. tmpaxzxjjyw_mondo_relaxed.owl secondary malignant neoplasm|secondary malignancy|secondary cancer ICD9:199.1|SCTID:128462008|ICD9:198.89|NCIT:C4968 Note that we currently treat secondary neoplasms as being neoplastic diseases that are derived from neoplasm; classes such as 'neoplasm', 'carcinoma' are implicitly primary. This may change in future. owl:Class MONDO:0018978 biolink:NamedThing IgG4-related mediastinitis tmpaxzxjjyw_mondo_relaxed.owl idiopathic mediastinal fibrosis|sclerosing mediastinitis|mediastinal fibrosis|fibrosing mediastinitis ICD10:J98.5|MESH:C536136|Orphanet:63999|GARD:0008337|MedDRA:10027074 owl:Class UBERON:0004390 biolink:NamedThing epiphysis of metacarpal bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017239 biolink:NamedThing familial progressive hyper- and hypopigmentation Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. tmpaxzxjjyw_mondo_relaxed.owl FPHH Orphanet:280628|ICD10:L81.8|OMIM:145250|UMLS:C1840392 owl:Class MONDO:0007771 biolink:NamedThing hyperpigmentation with or without hypopigmentation, familial progressive tmpaxzxjjyw_mondo_relaxed.owl hyperpigmentation with or without hypopigmentation, familial progressive|melanosis universalis hereditaria|FPHH|melanosis, universal|hyperpigmentation, familial progressive, 2|macules, hereditary congenital hypopigmented and hyperpigmented|hyperpigmentation, familial progressive, 2, formerly Orphanet:280628|OMIM:145250|UMLS:C1835039|DOID:0111373|Orphanet:79146|UMLS:C1840392 owl:Class MONDO:0008241 biolink:NamedThing phosphoglycoprotein 1 tmpaxzxjjyw_mondo_relaxed.owl phosphoglycoprotein type 1|PGP1|phosphoglycoprotein 1 OMIM:172290 owl:Class MONDO:0023573 biolink:NamedThing Kozlowski Warren Fisher syndrome tmpaxzxjjyw_mondo_relaxed.owl cloverleaf skull generalised bone dysplasia GARD:0000353|UMLS:C2931546|MESH:C537614 https://rarediseases.info.nih.gov/diseases/353/kozlowski-warren-fisher-syndrome owl:Class MONDO:0009540 biolink:NamedThing chronic mucocutaneous candidiasis due to lymphokine deficiency tmpaxzxjjyw_mondo_relaxed.owl lymphokine deficiency MESH:C565428|UMLS:C1855471|OMIM:247650 owl:Class MONDO:0021632 biolink:NamedThing primary brain neoplasm tmpaxzxjjyw_mondo_relaxed.owl primary brain tumor|primary brain neoplasm ONCOTREE:PBT|NCIT:C4952 owl:Class MONDO:0012116 biolink:NamedThing spinocerebellar ataxia type 8 Spinocerebellar ataxia type 8 (SCA8) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. tmpaxzxjjyw_mondo_relaxed.owl SCA8|spinocerebellar ataxia type 8|spinocerebellar ataxia 8 OMIM:608768|UMLS:C4275024|DOID:0050959|SCTID:715753001|ICD10:G11.2|GARD:0004956|UMLS:C1837454|Orphanet:98760 owl:Class GO:1904222 biolink:NamedThing positive regulation of serine C-palmitoyltransferase activity Any process that activates or increases the frequency, rate or extent of serine C-palmitoyltransferase activity. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of serine C-palmitoyltransferase activity|positive regulation of SPT|activation of acyl-CoA:serine C-2 acyltransferase decarboxylating|up regulation of SPT|activation of serine C-palmitoyltransferase activity|up-regulation of 3-oxosphinganine synthetase activity|activation of SPT|up regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|positive regulation of 3-oxosphinganine synthetase activity|activation of 3-oxosphinganine synthetase activity|up regulation of 3-oxosphinganine synthetase activity|positive regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|up regulation of serine C-palmitoyltransferase activity|activation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|upregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|up-regulation of SPT|upregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|up-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|up-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|upregulation of serine C-palmitoyltransferase activity|positive regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating|upregulation of 3-oxosphinganine synthetase activity|up regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity|upregulation of SPT owl:Class MONDO:0007088 biolink:NamedThing Alzheimer disease type 1 tmpaxzxjjyw_mondo_relaxed.owl AD1|Alzheimer disease|presenile and senile dementia|Alzheimer disease, familial, 1|early-onset familial form of Alzheimer disease|AD|Alzheimer disease, early-onset, with cerebral amyloid angiopathy|Alzheimer disease, protection against|Alzheimer disease 1 OMIM:104300|DOID:0080348|Orphanet:1020|GARD:0009465|UMLS:C2931257 https://rarediseases.info.nih.gov/diseases/9465/alzheimer-disease-type-1 owl:Class MONDO:0007005 biolink:NamedThing ulcerative proctosigmoiditis Inflammation of the rectum and the distal portion of the colon. tmpaxzxjjyw_mondo_relaxed.owl ICD9:556.3|SCTID:52506002|EFO:1001223 owl:Class MONDO:0030921 biolink:NamedThing intellectual disability, autosomal dominant 55, with seizures tmpaxzxjjyw_mondo_relaxed.owl MRD55|autosomal dominant mental retardation 55|autosomal dominant intellectual disability 55|mental retardation, autosomal dominant 55, with seizures|intellectual disability, autosomal dominant 55, with seizures UMLS:CN757796|OMIM:617831|DOID:0080227 owl:Class MONDO:0004763 biolink:NamedThing carotid artery dissection Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke. tmpaxzxjjyw_mondo_relaxed.owl dissection of carotid artery NCIT:C125662|DOID:9348|ICD9:443.21|SCTID:720626009|UMLS:C0338585|ICD10:I77.71 owl:Class MONDO:0022904 biolink:NamedThing cryofibrinogenemia tmpaxzxjjyw_mondo_relaxed.owl cryofibrinogenemia GARD:0009908|UMLS:C0272263|SCTID:10934005|MESH:C536218|ICD9:286.9 https://rarediseases.info.nih.gov/diseases/9908/cryofibrinogenemia owl:Class MONDO:0010984 biolink:NamedThing Usher syndrome type 1D A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl Usher syndrome type ID|Usher syndrome, type Id/F, Cdh23/Pcdh15, digenic|Usher syndrome, type 1D|Usher syndrome type 1D|USH1D|Ush1D/F, Cdh23/Pcdh15, digenic|USHER syndrome, type ID DOID:0110831|OMIM:601067|ICD10:H35.5|Orphanet:231169|Orphanet:886|GARD:0005438 https://rarediseases.info.nih.gov/diseases/5438/usher-syndrome-type-1d owl:Class MONDO:0030055 biolink:NamedThing sorbitol dehydrogenase deficiency with peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl SORBITOL DEHYDROGENASE DEFICIENCY WITH PERIPHERAL NEUROPATHY|sorbitol dehydrogenase deficiency with peripheral neuropathy|SORDD|Sorbitol Dehydrogenase Deficiency OMIM:618912 owl:Class MONDO:0019486 biolink:NamedThing myoclonic epilepsy of infancy tmpaxzxjjyw_mondo_relaxed.owl benign myoclonic epilepsy of infancy|benign myoclonus epilepsy of infancy ICD10:G40.3|UMLS:C0917800|Orphanet:86909|UMLS:CN206266 owl:Class MONDO:0008479 biolink:NamedThing spondylometaphyseal dysplasia, 'corner fracture' type A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies). tmpaxzxjjyw_mondo_relaxed.owl spondylometaphyseal dysplasia corner fracture type|spondylometaphyseal dysplasia Sutcliffe type|spondylometaphyseal dysplasia, corner fracture type|Sutcliffe SmD|Sutcliffe type of spondylometaphyseal dysplasia|spondylometaphyseal dysplasia, Sutcliffe type|SMDCF UMLS:C0432221|GARD:0004991|Orphanet:93315|OMIM:184255|SCTID:254078005|MESH:C535793|ICD10:Q77.8 https://rarediseases.info.nih.gov/diseases/4991/spondylometaphyseal-dysplasia-corner-fracture-type owl:Class SO:0001508 biolink:NamedThing alteration_attribute An attribute of alteration of one or more chromosomes. tmpaxzxjjyw_mondo_relaxed.owl alteration attribute owl:Class ECTO:9002021 biolink:NamedThing exposure to astringent An exposure to astringent. tmpaxzxjjyw_mondo_relaxed.owl exposure to astringent owl:Class CHEBI:33670 biolink:NamedThing heteromonocyclic compound tmpaxzxjjyw_mondo_relaxed.owl heteromonocyclic compounds|heteromonocyclic compound owl:Class MONDO:0012300 biolink:NamedThing prostate cancer, hereditary, 6 tmpaxzxjjyw_mondo_relaxed.owl prostate cancer, hereditary, 6|prostate cancer, hereditary, type 6|HPC6 UMLS:C1836005|OMIM:609558|MESH:C563699 owl:Class MONDO:0002536 biolink:NamedThing skin papilloma A benign papillary neoplastic growth on the skin composed of epithelial cells and a fibrous stalk. It usually develops in the eyelid, axilla, neck, upper chest, and groin. tmpaxzxjjyw_mondo_relaxed.owl basosquamous tumor, benign|zone of skin papilloma|papilloma of the skin|cutaneous papilloma|skin papilloma|papilloma of skin UMLS:C0347390|DOID:3178|SCTID:255184001|NCIT:C4614 owl:Class UBERON:0035102 biolink:NamedThing transverse process of caudal vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11896 biolink:NamedThing TNFAIP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:543769 biolink:NamedThing Rhizaria tmpaxzxjjyw_mondo_relaxed.owl PMID:30257078|GC_ID:1 ncbi_taxonomy owl:Class HGNC:4017 biolink:NamedThing FUT6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043303 biolink:NamedThing hyperacusis A disorder in which an individual has an abnormally low noise tolerance, and increased sensitivity to sounds. tmpaxzxjjyw_mondo_relaxed.owl perception disturbances, loudness|Phonophobias|hyperacusia|hyperesthesias, auditory|hyperesthesia, auditory|disturbances, loudness perception|loudness perception disturbance|hyperacuses|loudness perception disturbances|auditory Hyperesthesias|loudness Recruitments|loudness recruitment|oversensitive hearing|phonophobia|disturbance, loudness perception|perception disturbance, loudness|hyperacusias|auditory hyperesthesia|recruitment, loudness|sounds seem unnaturally loud|hyperacusis|low tolerance to sound NCIT:C116366|MESH:D012001|SCTID:25289003|GARD:0009655 owl:Class RO:0002577 biolink:NamedThing system A material entity consisting of multiple components that are causally integrated. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001686 biolink:NamedThing Loss of voice tmpaxzxjjyw_mondo_relaxed.owl Aphonia SNOMEDCT_US:44564008|SNOMEDCT_US:441913003|MSH:D001044|UMLS:C0003564 human_phenotype owl:Class ENVO:01000726 biolink:NamedThing desublimation process Desublimation is a process in which a portion of some gas undergoes a phase transition into a portion of some solid. tmpaxzxjjyw_mondo_relaxed.owl deposition owl:Class MONDO:0002558 biolink:NamedThing melanotic neurilemmoma A rare circumscribed, non-encapsulated and grossly pigmented nerve sheath tumor. It is composed of cells with the immunophenotypic and electron microscopic features of Schwann cells which contain melanosomes and are positive for melanoma markers. It usually involves spinal nerve roots but may occur in other locations. It may be associated with PRKAR1A gene mutation and Carney complex. Malignant behavior has been reported in a significant number of patients. tmpaxzxjjyw_mondo_relaxed.owl pigmented neurilemmoma|MSCHW|pigmented schwannoma|melanotic schwannoma (morphologic abnormality)|melanotic neurinoma|melanocytic schwannoma|melanocytic neurilemmoma|melanotic schwannoma SCTID:404024000|ICD9:215.8|UMLS:C1306247|DOID:3205|ONCOTREE:MSCHW|NCIT:C6970 owl:Class MONDO:0001504 biolink:NamedThing fetishism A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the use of nonliving objects such as women's wearing apparel (the "fetish"). tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94353|ICD10:F65.0|ICD9:302.81|SCTID:59174009|DOID:1235|MESH:D005329 owl:Class MONDO:0004701 biolink:NamedThing uterine polyp A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection. tmpaxzxjjyw_mondo_relaxed.owl polyp of corpus uteri|uterine polyp|polyp of endometrium|endometrial/uterine polyp|polyp of the uterus|polyp of uterus|uterus polyp|polyp, uterus UMLS:C0156369|DOID:9042|NCIT:C3662|ICD10:N84.0|SCTID:11314008|ICD9:621.0 owl:Class GO:2000259 biolink:NamedThing positive regulation of protein activation cascade Any process that activates or increases the frequency, rate or extent of protein activation cascade. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of protein activation pathway|positive regulation of protein activitory cascade owl:Class NCBITaxon:43741 biolink:NamedThing Acalyptratae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009236 biolink:NamedThing Kandori fleck retina Kandori fleck retina is a rare, genetic retinal dystrophy characterized by irregular, sharply defined, yellowish-white lesions of variable size that are distributed mainly in the nasal equatorial region of the retina, with a tendency to confluence, that are not associated with any vascular or optic nerve abnormalities. They frequently manifest as mild and stationary night blindness. tmpaxzxjjyw_mondo_relaxed.owl FLECK retina of KANDORI OMIM:228990|ICD10:H35.5|Orphanet:99179|UMLS:C0271257|MESH:C562701|SCTID:765191009 owl:Class HGNC:30171 biolink:NamedThing HSPB8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003693 biolink:NamedThing clear cell cystadenofibroma A benign neoplasm characterized by the presence of cystic glandular and fibrous tissues and clear cells. tmpaxzxjjyw_mondo_relaxed.owl clear cell cystadenofibroma DOID:5895|NCIT:C8988|UMLS:C1377853 owl:Class HGNC:4415 biolink:NamedThing GNMT tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:90339 biolink:NamedThing Rhinosporidium seeberi tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:90338 biolink:NamedThing Rhinosporidium tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009512 biolink:NamedThing lethal Larsen-like syndrome Larsen-like syndrome, lethal type, is characterised by multiple joint dislocation and respiratory insufficiency due to tracheomalacia and/or lung hypoplasia. It has been described in less than ten patients. Transmission is thought to be autosomal recessive. Brain dysplasia has been described in some patients and could result from systemic hypoxic-ischemic insults during the second half of pregnancy, although genetic factors have not been ruled out. tmpaxzxjjyw_mondo_relaxed.owl Larsen-like multiple joint dislocation syndrome|Larsen-like syndrome, lethal type Orphanet:2371|MESH:C537872|SCTID:719409004|ICD10:Q74.8|UMLS:C1855535|GARD:0003181|OMIM:245650|UMLS:C4304741 owl:Class MONDO:0100008 biolink:NamedThing food protein-induced enterocolitis syndrome An eosinophilic gastrointestinal disorder triggered by food that is non-IgE-mediated. tmpaxzxjjyw_mondo_relaxed.owl delayed food allergy|FPIES 2018-06-22 21:10:26+00:00 owl:Class MONDO:0009172 biolink:NamedThing enterocolitis An inflammatory process affecting the small intestine and colon. Causes include viruses, bacteria, radiation, and antibiotics use. tmpaxzxjjyw_mondo_relaxed.owl enterocolitis (disease)|enterocolitis enterocolitis (disease) UMLS:C0014356|OMIM:226150|EFO:1001481|SCTID:43752006|ICD9:558.9|NCIT:C79573|HP:0004387|MESH:D004760 owl:Class MONDO:0011792 biolink:NamedThing thyroid dyshormonogenesis 6 Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene. tmpaxzxjjyw_mondo_relaxed.owl hypothyroidism, congenital, due to dyshormonogenesis, 6|thyroid hormonogenesis, genetic defect in, 6|familial thyroid dyshormonogenesis caused by mutation in DUOX2|TDH6|DUOX2 familial thyroid dyshormonogenesis|thyroid dyshormonogenesis type 6|thyroid dyshormonogenesis 6 Orphanet:95716|MESH:C564608|OMIM:607200|UMLS:C1846632 owl:Class MONDO:0017812 biolink:NamedThing segmental progressive overgrowth syndrome with fibroadipose hyperplasia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:314662|UMLS:CN203781 owl:Class MONDO:0008785 biolink:NamedThing sideroblastic anemia 2 tmpaxzxjjyw_mondo_relaxed.owl anemia, sideroblastic, pyridoxine-refractory, autosomal recessive|SIDBA2|anemia, sideroblastic, 2, pyridoxine-refractory|sideroblastic anemia pyridoxine-refractory autosomal recessive|pyridoxine refractory sideroblastic anemia OMIM:205950|DOID:0060065|GARD:0008249|Orphanet:255132|MESH:C567145|Orphanet:260305 owl:Class MONDO:0016828 biolink:NamedThing autosomal recessive sideroblastic anemia Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin. tmpaxzxjjyw_mondo_relaxed.owl sideroblastic anemia, autosomal recessive|congenital sideroblastic anemia|ARSA UMLS:C4274077|ICD10:D64.0|SCTID:717050005|OMIM:182170|Orphanet:260305|OMIM:205950 owl:Class NCBITaxon:11250 biolink:NamedThing Human orthopneumovirus tmpaxzxjjyw_mondo_relaxed.owl human RSV|HRSV|Human respiratory syncytial virus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:1868215 biolink:NamedThing Orthopneumovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0054752 biolink:NamedThing multiple synostoses syndrome 4 tmpaxzxjjyw_mondo_relaxed.owl SYNS4|multiple synostoses syndrome 4 OMIM:617898|UMLS:CN842246 owl:Class UBERON:0005049 biolink:NamedThing mucosa of infundibulum of uterine tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008898 biolink:NamedThing camptodactyly syndrome, Guadalajara type 1 Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. tmpaxzxjjyw_mondo_relaxed.owl FTSS|camptodactyly syndrome, Guadalajara, type 1|faciothoracoskeletal syndrome|GCS1|camptodactyly syndrome, Guadalajara, type I|camptodactyly syndrome Guadalajara type 1|GCS 1 UMLS:C1859359|GARD:0001067|MESH:C537970|SCTID:720602007|OMIM:211910|ICD10:Q87.1|Orphanet:1327 https://rarediseases.info.nih.gov/diseases/1067/camptodactyly-syndrome-guadalajara-type-1 owl:Class MONDO:0009453 biolink:NamedThing immune deficiency disease tmpaxzxjjyw_mondo_relaxed.owl immune deficiency disease OMIM:242850|MESH:C565469|UMLS:C1855771 owl:Class HP:0004394 biolink:NamedThing Multiple gastric polyps tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:78809005|SNOMEDCT_US:87252009|UMLS:C0236048|MSH:C562464 peter 2008-03-18T09:11:00Z human_phenotype owl:Class MONDO:0000446 biolink:NamedThing midface dysplasia tmpaxzxjjyw_mondo_relaxed.owl DOID:0050767 owl:Class UBERON:0003439 biolink:NamedThing nerve of trunk region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022772 biolink:NamedThing classic Kaposi sarcoma A vascular sarcoma that commonly occurs in the lower extremities. It occurs predominantly in elderly male patients of southern European ancestry. It is characterized by the presence of purple, red-blue, or dark brown macular lesions, plaques and nodules. This disease is usually slow growing, although it can spread to the lungs and the gastrointestinal tract. If necessary, cutaneous lesions can be treated with radiation. tmpaxzxjjyw_mondo_relaxed.owl Kaposi sarcoma, classic|classic Kaposi sarcoma|Kaposi sarcoma classical type|classic Kaposi's sarcoma|Kaposi's sarcoma, classical type UMLS:C0279084|NCIT:C9112 owl:Class MONDO:0012777 biolink:NamedThing celiac disease, susceptibility to, 8 tmpaxzxjjyw_mondo_relaxed.owl gluten-sensitive enteropathy, susceptibility to, 8|CELIAC8|celiac disease, susceptibility to, 8 OMIM:612006 owl:Class MONDO:0030007 biolink:NamedThing combined oxidative phosphorylation deficiency 41 tmpaxzxjjyw_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41|combined oxidative phosphorylation deficiency 41|COXPD41 OMIM:618838 owl:Class MONDO:0010695 biolink:NamedThing occipital hair, white lock of tmpaxzxjjyw_mondo_relaxed.owl occipital hair, white lock of OMIM:310900 owl:Class HGNC:1395 biolink:NamedThing CACNA1H tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:2001626 biolink:NamedThing premaxillary tooth tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905083 biolink:NamedThing negative regulation of mitochondrial translational elongation Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial translational elongation. tmpaxzxjjyw_mondo_relaxed.owl down regulation of mitochondrial translational elongation|downregulation of mitochondrial translation elongation|inhibition of mitochondrial translational elongation|downregulation of mitochondrial translational elongation|down regulation of mitochondrial translation elongation|down-regulation of mitochondrial translation elongation|negative regulation of mitochondrial translation elongation|down-regulation of mitochondrial translational elongation|inhibition of mitochondrial translation elongation owl:Class MONDO:0032923 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 28 tmpaxzxjjyw_mondo_relaxed.owl SCAR28|SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28 OMIM:618800 owl:Class MONDO:0006743 biolink:NamedThing endocrine tuberculosis Infection of the endocrine glands with species of mycobacterium, most often mycobacterium tuberculosis. tmpaxzxjjyw_mondo_relaxed.owl MESH:D014383|EFO:1000917|UMLS:C0041310 owl:Class MONDO:0002831 biolink:NamedThing non-keratinizing sinonasal squamous cell carcinoma A squamous cell carcinoma of the sinonasal tract characterized by a plexiform or ribbon-like growth pattern, cytological atypia, and lack of histological evidence of keratinization. tmpaxzxjjyw_mondo_relaxed.owl Sinonasal cylindrical cell carcinoma|Sinonasal transitional cell carcinoma|Sinonasal Schneiderian carcinoma|non-keratinizing sinonasal squamous cell carcinoma|cylindrical cell carcinoma|Ringertz carcinoma|Schneiderian carcinoma|sinonasal squamous cell carcinoma UMLS:C0334270|ICDO:8121/3|ONCOTREE:SNSC|NCIT:C54287|DOID:4003 Editor note: TODO check ONCOTREE mapping owl:Class GO:1902721 biolink:NamedThing negative regulation of prolactin secretion Any process that stops, prevents or reduces the frequency, rate or extent of prolactin secretion. tmpaxzxjjyw_mondo_relaxed.owl down regulation of prolactin secretion|down-regulation of prolactin secretion|inhibition of prolactin secretion|downregulation of prolactin secretion owl:Class MONDO:0017046 biolink:NamedThing neuroepithelioma Peripheral neuroepithelioma is a rare noncentral nervous system tumor with evidence of primitive neuroectodermal differentiation. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:2677|GARD:0003963|OMIM:612219|ICD10:C71.9 Editor note: see also MONDO:0005462 and MONDO:0021193 https://rarediseases.info.nih.gov/diseases/3963/neuroepithelioma owl:Class CHEBI:33485 biolink:NamedThing chalcogen oxoanion tmpaxzxjjyw_mondo_relaxed.owl chalcogen oxoanion|chalcogen oxoanions owl:Class MONDO:0013562 biolink:NamedThing aspergillosis, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl susceptibility to aspergillosis|aspergillosis, susceptibility to Orphanet:1163|OMIM:614079 owl:Class GO:0042866 biolink:NamedThing pyruvate biosynthetic process The chemical reactions and pathways resulting in the formation of pyruvate, 2-oxopropanoate. tmpaxzxjjyw_mondo_relaxed.owl pyruvate anabolism|pyruvate formation|pyruvate biosynthesis|pyruvate synthesis owl:Class MONDO:0003073 biolink:NamedThing trilateral retinoblastoma Trilateral retinoblastoma refers to bilateral (or less often unilateral) retinoblastoma associated with an intracranial primitive neuroectodermal tumor in the pineal or suprasellar region. This syndrome is often associated with a increased familial incidence of retinoblastoma. (From Cancer 86(1): 135-141, 1999). tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7019|UMLS:C2608045|DOID:4647 owl:Class MONDO:0000902 biolink:NamedThing agenesis of the corpus callosum with peripheral neuropathy Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl ACCPN|hereditary motor and sensory neuropathy with agenesis of the corpus callosum|Andermann syndrome|Charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|agenesis of corpus callosum with polyneuropathy|peripheral neuropathy associated with agenesis of the corpus callosum|agenesis of the corpus callosum with peripheral neuropathy|agenesis of corpus callosum with peripheral neuropathy|corpus callosum agenesis-neuronopathy syndrome|HMSN/ACC|corpus callosum, agenesis of, with neuronopathy|corpus callosum agenesis neuronopathy|agenesis of corpus callosum with neuronopathy OMIM:218000|DOID:0060600|SCTID:702439002|MESH:C536446|Orphanet:1496|GARD:0001537|DOID:0090003|ICD10:G60.0|UMLS:C0795950 owl:Class MONDO:0019603 biolink:NamedThing osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterised by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:91133|ICD10:Q87.5|UMLS:CN206455|SCTID:722111004 owl:Class FOODON:03412702 biolink:NamedThing kid (goat) A young goat tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11957 biolink:NamedThing MED12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001211 biolink:NamedThing stellar radiation An electromagnetic radiation process during which electromagnetic waves or their quanta are emitted from a star. tmpaxzxjjyw_mondo_relaxed.owl solar radiation owl:Class MONDO:0043162 biolink:NamedThing pagon stephan syndrome tmpaxzxjjyw_mondo_relaxed.owl septo-optic dysplasia with digital anomalies GARD:0004195|MESH:C538100|UMLS:C2931733 owl:Class MONDO:0019333 biolink:NamedThing autosomal recessive hyperinsulinism due to SUR1 deficiency tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency ICD10:E16.1|OMIM:256450|Orphanet:79643|UMLS:CN206002 owl:Class MONDO:0008724 biolink:NamedThing adducted thumbs-arthrogryposis syndrome, Christian type A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983. tmpaxzxjjyw_mondo_relaxed.owl adducted thumbs syndrome OMIM:201550|Orphanet:2952|ICD10:Q74.8 owl:Class MONDO:0017105 biolink:NamedThing glioependymal/ependymal cyst Glioependymal/ependymal cyst is a rare central nervous system malformation defined as a subarachnoid, supratentorial, interventricular or intraspinal, sometimes intracerebral or intramedullar cyst with an internal ependymal lining, possibly surrounded by glial tissue. It may be an incidental finding or may present at different ages with clinical features depending on its size and location. It may distort adjacent brain structures and cause macrocephaly, ventriculomegaly, hydrocephalus, focal neurological signs and other signs and symptoms. In some cases, it is associated with other cerebral malformations (e.g. corpus callosum agenesis, polymicrogyria, heterotopias). tmpaxzxjjyw_mondo_relaxed.owl Orphanet:269197 owl:Class MONDO:0016325 biolink:NamedThing glycogen storage disease with hypertrophic cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl glycogenosis with hypertrophic cardiomyopathy|GSD with hypertrophic cardiomyopathy 2022-03-01 ICD10:E74.0|Orphanet:217572|UMLS:CN201158 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: glycogen storage disease' MONDO_0002412 owl:Class MONDO:0008773 biolink:NamedThing amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis tmpaxzxjjyw_mondo_relaxed.owl amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis|amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis OMIM:204730|UMLS:C1859818|MESH:C565960|GARD:0000763 https://rarediseases.info.nih.gov/diseases/763/amino-aciduria-with-mental-deficiency-dwarfism-muscular-dystrophy-osteoporosis-and-acidosis owl:Class MONDO:0019890 biolink:NamedThing non-distal trisomy 9q Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported. tmpaxzxjjyw_mondo_relaxed.owl non-telomeric trisomy 9q|non-distal trisomy type 9q|non-distal duplication 9q ICD10:Q92.3|SCTID:764997000|Orphanet:96112 owl:Class MONDO:0001228 biolink:NamedThing conjunctival folliculosis tmpaxzxjjyw_mondo_relaxed.owl acute follicular conjunctivitis DOID:11219|UMLS:C0155143|SCTID:41308008|ICD9:372.02|ICD10:H10.01 owl:Class MONDO:0007677 biolink:NamedThing hyperglycinuria tmpaxzxjjyw_mondo_relaxed.owl hyperglycinuria|Glycinuria with or without oxalate urolithiasis|hyperglycinuria (disease)|Iminoglycinuria type 2|Glycinuria with or without oxalate nephrolithiasis hyperglycinuria (disease) OMIM:138500|HP:0003108|MESH:C563009|UMLS:C0543541 owl:Class MONDO:0009673 biolink:NamedThing spinal muscular atrophy, type II Proximal spinal muscular atrophy type 2 (SMA2) is a chronic infantile form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei. tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy type II|spinal muscular atrophy type 2|muscular atrophy, spinal, Intermediate type|SMA type II|SMA2|Sma 2|spinal muscular atrophy, type II|Dubowitz disease|Intermediate spinal muscular atrophy|SMA II|chronic spinal muscular atrophy|chronic infantile spinal muscular atrophy|SMA-II|spinal muscular atrophy, type 2|muscular atrophy, spinal, infantile chronic form|muscular atrophy, spinal, intermediate type|SMA type 2|proximal spinal muscular atrophy type 2 DOID:0050530|MESH:C536879|SCTID:128212001|ICD10:G12.1|OMIM:253550|Orphanet:70|ICD9:335.19|GARD:0004945|Orphanet:83418 owl:Class MONDO:0011012 biolink:NamedThing African iron overload African iron overload is a rare disorder described in sub-Saharan African populations and is characterized by iron overload due to excess dietary iron intake and possibly genetic factors, leading to hepatic portal fibrosis and micronodular cirrhosis. tmpaxzxjjyw_mondo_relaxed.owl African iron overload|hereditary iron overload and African Americans|iron overload in Africa|Bantu siderosis GARD:0008495|ICD10:E83.1|SCTID:66576001|Orphanet:139507|OMIM:601195|MESH:C537904|DOID:0111033 owl:Class MONDO:0017245 biolink:NamedThing intralobar congenital pulmonary sequestration tmpaxzxjjyw_mondo_relaxed.owl congenital intrapulmonary sequestration|intralobar congenital bronchopulmonary sequestration Orphanet:280802|ICD10:Q33.2 owl:Class CHEBI:23334 biolink:NamedThing cobalamins tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004742 biolink:NamedThing primary cerebellar degeneration A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. tmpaxzxjjyw_mondo_relaxed.owl DOID:9277|UMLS:C0033132|ICD9:334.2|SCTID:23732000 owl:Class MONDO:0022400 biolink:NamedThing retinal ciliopathy due to mutation in the rpgrip gene tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156174 owl:Class MONDO:0021429 biolink:NamedThing squamous cell carcinoma of floor of mouth A squamous cell carcinoma that involves the mouth floor. tmpaxzxjjyw_mondo_relaxed.owl mouth floor squamous cell carcinoma|scc of floor of mouth|scc of the floor of mouth|floor of mouth squamous cell carcinoma|squamous cell carcinoma of the floor of mouth|floor of mouth scc SCTID:276954004|UMLS:C0280300|NCIT:C4041 owl:Class UBERON:0016888 biolink:NamedThing transitional anatomical structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004242 biolink:NamedThing active peptic ulcer disease tmpaxzxjjyw_mondo_relaxed.owl GI bleeding SCTID:74474003|DOID:749|ICD9:578.9 owl:Class MONDO:0020041 biolink:NamedThing 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98086|UMLS:CN227739 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: 46,XY disorder of sex development of endocrine origin' MONDO_0017969 owl:Class HP:0010576 biolink:NamedThing Intracranial cystic lesion A cystic lesion originating within the brain. tmpaxzxjjyw_mondo_relaxed.owl Cerebral cystic malformation UMLS:C4021250 sandra1 2009-10-22T01:38:49Z human_phenotype owl:Class MONDO:0020703 biolink:NamedThing erythroid neoplasm tmpaxzxjjyw_mondo_relaxed.owl erythroid tumor|erythroid neoplasm NCIT:C7064 owl:Class MONDO:0017466 biolink:NamedThing congenital pseudoarthrosis of the ulna tmpaxzxjjyw_mondo_relaxed.owl congenital pseudarthrosis of the ulna ICD10:Q74.0|Orphanet:295026 owl:Class NCBITaxon:1762 biolink:NamedThing Mycobacteriaceae tmpaxzxjjyw_mondo_relaxed.owl PMID:30186281|GC_ID:11|PMID:19244447|PMID:29497402 ncbi_taxonomy owl:Class MONDO:0010270 biolink:NamedThing syndromic X-linked intellectual disability 7 Syndromic X-linked intellectual disability 7, also called MRXS7, is characterized by X-linked intellectual deficit, obesity, hypogonadism, and tapering fingers. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked, syndromic 7|mental retardation, X-linked, syndromic 7|intellectual disability, X-linked syndromic 7|mental retardation, X-linked syndromic 7|mental retardation X-linked syndromic 7|syndromic X-linked intellectual disability type 7|intellectual disability, obesity, hypogonadism, and tapering fingers|Ahmad X-linked mental retardation syndrome|intellectual disability X-linked syndromic 7|Ahmad X-linked intellectual disability syndrome|MRXS7|mental retardation, obesity, hypogonadism, and tapering fingers|X-linked intellectual disability, Ahmad type ICD10:Q87.8|DOID:0060808|UMLS:C4304916|Orphanet:85274|UMLS:C1846170|SCTID:719160009|GARD:0009156|OMIM:300218|MESH:C537449 owl:Class MONDO:0030013 biolink:NamedThing immunodeficiency 66 tmpaxzxjjyw_mondo_relaxed.owl IMMUNODEFICIENCY 66|immunodeficiency 66|IMD66 OMIM:618847 owl:Class MONDO:0013067 biolink:NamedThing cataract 34 multiple types Any cataract (disease) in which the cause of the disease is a mutation in the FOXE3 gene. tmpaxzxjjyw_mondo_relaxed.owl CTRCT34|cataract 34, multiple types|cataract 34 multiple types with or without microcornea|CATC3|cataract 34, multiple types, with or without microcornea|cataract, autosomal recessive congenital 3|autosomal recessive congenital cataract 3|FOXE3 cataract (disease)|cataract (disease) caused by mutation in FOXE3 OMIM:612968|Orphanet:91492|UMLS:C2751822|MESH:C567835|DOID:0110230|ICD10:Q12.0|Orphanet:98993 owl:Class MONDO:0013068 biolink:NamedThing age-related hearing impairment 2 tmpaxzxjjyw_mondo_relaxed.owl ARHI2|presbycusis 2|age-related hearing impairment 2 OMIM:612976|MESH:C567834|UMLS:C2751814 owl:Class MONDO:0011862 biolink:NamedThing hereditary spastic paraplegia 24 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 13q14. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spastic paraplegia 24|autosomal recessive spastic paraplegia type 24|hereditary spastic paraplegia type 24|spastic paraplegia 24|SPG24|spastic paraplegia 24, autosomal recessive OMIM:607584|DOID:0110775|UMLS:C1843569|MESH:C564375|Orphanet:101004|ICD10:G11.4|GARD:0009296 owl:Class GO:0005342 biolink:NamedThing organic acid transmembrane transporter activity Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0035112 biolink:NamedThing acute myeloid leukemia with BCR-ABL1 tmpaxzxjjyw_mondo_relaxed.owl AML with t(9;22)(q34.1;q11.2)|acute myeloid leukemia with t(9;22)(q34.1;q11.2)|AML with BCR-ABL1 Orphanet:585867|NCIT:C129785 owl:Class MONDO:0001203 biolink:NamedThing prolapse of lacrimal gland tmpaxzxjjyw_mondo_relaxed.owl dislocation of lacrimal gland SCTID:84777002|ICD9:375.16|DOID:11134|ICD10:H04.16|UMLS:C0155231 owl:Class MONDO:0016859 biolink:NamedThing blepharophimosis-epicanthus inversus-ptosis due to copy number variations Blepharophimosis - epicanthus inversus - ptosis (BPES) due to polyA expansion is a form of BPES, characterized by the classical eyelid malformation (blepharophimosis, ptosis, epicanthus inversus, and telecanthus) which may be associated with a mild ovarian involvement. tmpaxzxjjyw_mondo_relaxed.owl blepharophimosis types 1 and 2 due to copy number variations|blepharophimosis-epicanthus inversus-ptosis due to a CNV Orphanet:261579|OMIM:110100|UMLS:CN202202|ICD10:Q10.3 owl:Class GO:0099182 biolink:NamedThing presynaptic intermediate filament cytoskeleton The intermediate filament cytoskeleton that is part of a presynapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007138 biolink:NamedThing anterior segment dysgenesis 1 tmpaxzxjjyw_mondo_relaxed.owl ASGD1|anterior segment ocular dysgenesis|anterior segment dysgenesis 1|ASMD|anterior segment mesenchymal dysgenesis DOID:0060605|Orphanet:88632|UMLS:C1862839|OMIM:107250|ICD10:Q13.8 owl:Class MONDO:0009541 biolink:NamedThing lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis tmpaxzxjjyw_mondo_relaxed.owl lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis UMLS:C1855470|OMIM:247800|MESH:C565427 owl:Class UBERON:2002068 biolink:NamedThing lower hypural set tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017238 biolink:NamedThing hemoglobinopathy Toms River tmpaxzxjjyw_mondo_relaxed.owl transient neonatal cyanosis and anemia due to Toms River Hemoglobin OMIM:613977|Orphanet:280615|ICD10:D58.2 owl:Class MONDO:0007396 biolink:NamedThing dysostosis, Stanescu type Stanescu type dysostosis is a rare form of osteosclerosis. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant osteosclerosis, Stanescu type|Stanescu osteosclerosis|dysostosis Stanescu type|craniofacial dysostosis-diaphyseal hyperplasia syndrome|osteosclerosis, Stanescu type|craniofacial dysostosis with diaphyseal hyperplasia GARD:0002016|UMLS:C0432263|ICD10:Q78.8|MESH:C562974|Orphanet:1798|OMIM:122900|SCTID:254124008 owl:Class ECTO:9000019 biolink:NamedThing exposure to acetic acid An exposure to acetic acid. tmpaxzxjjyw_mondo_relaxed.owl exposure to acetic acid owl:Class MONDO:0016099 biolink:NamedThing overlap myositis Overlap myositis (OM) is a form of idiopathic inflammatory myopathy (IIM) characterized by myositis with at least one clinical and/or autoantibody overlap feature. tmpaxzxjjyw_mondo_relaxed.owl adult-onset overlap myositis|non-specific myositis Orphanet:206572 owl:Class MONDO:0020527 biolink:NamedThing ectopic Cushing syndrome Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor. tmpaxzxjjyw_mondo_relaxed.owl paraneoplastic Cushing syndrome|adrenocorticotropic hormone secretion syndrome|ectopic ACTH secreting tumor|ectopic Cushing syndrome|occult ectopic ACTH secretion|Cushing syndrome due to ectopic ACTH secretion ICD10:E24.3|Orphanet:99889|UMLS:CN207427|DOID:0060890 owl:Class MONDO:0008933 biolink:NamedThing cephalin lipidosis tmpaxzxjjyw_mondo_relaxed.owl cephalin lipidosis OMIM:212800|MESH:C565872|UMLS:C1859307 owl:Class MONDO:0000252 biolink:NamedThing inflammatory diarrhea An diarrhea (disease) involving a pathogenic inflammatory response in the intestinal mucosa. tmpaxzxjjyw_mondo_relaxed.owl SCTID:95544006|DOID:0050132 owl:Class MONDO:0014510 biolink:NamedThing fatty acyl-CoA reductase 1 deficiency tmpaxzxjjyw_mondo_relaxed.owl severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency|fatty acyl-CoA reductase 1 disorder|fatty acyl-CoA reductase 1 deficiency|rhizomelic chondrodysplasia punctata type 4|severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency|fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency|FAR1 deficiency|PFCRD|peroxisomal fatty acyl-CoA reductase 1 disorder|severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder Orphanet:438178|ICD10:E71.3|OMIM:616154|UMLS:C4015344 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0018023 biolink:NamedThing hemoglobin M disease tmpaxzxjjyw_mondo_relaxed.owl M hemoglobinopathy|hereditary methemoglobinemia due to hemoglobin mutation|methemoglobinemia, beta-globin type|autosomal dominant methemoglobinemia|blue baby syndrome UMLS:C3665425|OMIM:617971|UMLS:CN204238|ICD10:D74.0|Orphanet:330041|SCTID:74912001|MESH:C581942|GARD:0013007 owl:Class MONDO:0004499 biolink:NamedThing lung hilum carcinoma A lung carcinoma arising from the hilum of the lung. tmpaxzxjjyw_mondo_relaxed.owl hilar lung carcinoma|carcinoma of lung hilus|lung hilum cancer|lung hilus carcinoma|lung hilum carcinoma DOID:8207|UMLS:C1334445|NCIT:C7454 owl:Class MONDO:0007912 biolink:NamedThing lithium transport tmpaxzxjjyw_mondo_relaxed.owl lithium transport OMIM:152420 owl:Class HGNC:321 biolink:NamedThing AGL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010488 biolink:NamedThing intellectual disability, X-linked 100 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked 100|KIF4A non-syndromic X-linked intellectual disability|intellectual disability, X-linked type 100|intellectual disability, X-linked 100|mental retardation, X-linked type 100|non-syndromic X-linked intellectual disability caused by mutation in KIF4A|MRX100 OMIM:300923|UMLS:C3890167 owl:Class MONDO:0002360 biolink:NamedThing chondroma A benign well circumscribed neoplasm of hyaline cartilage arising from bone or soft tissue. It is characterized by the presence of chondrocytes. tmpaxzxjjyw_mondo_relaxed.owl chondroma|chondroma, benign|central chondroma UMLS:C0936248|DOID:2602|MESH:D002812|NCIT:C53459|ICDO:9220/0|GARD:0006052 https://rarediseases.info.nih.gov/diseases/6052/chondroma owl:Class MONDO:0020745 biolink:NamedThing autosomal dominant cardiac arrhythmia (Kuhn) tmpaxzxjjyw_mondo_relaxed.owl cardiac arrhythmia|extrasystoles OMIM:115000 owl:Class MONDO:0009419 biolink:NamedThing Woodhouse-Sakati syndrome Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. tmpaxzxjjyw_mondo_relaxed.owl diabetes-hypogonadism-deafness-intellectual disability syndrome|hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities|Woodhouse-Sakati syndrome|hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities|woodhouse Sakati syndrome|woodhouse-Sakati syndrome UMLS:C0342286|ICD9:759.89|GARD:0005592|MESH:C536742|ICD10:Q87.8|SCTID:237616002|Orphanet:3464|OMIM:241080 https://rarediseases.info.nih.gov/diseases/5592/woodhouse-sakati-syndrome owl:Class MONDO:0004178 biolink:NamedThing testicular yolk sac tumor, endodermal sinus pattern A yolk sac tumor that arises from the testis and is characterized by the presence of connective tissue stalks that contain a blood vessel and are lined by cells with clear cytoplasm and prominent nucleoli. tmpaxzxjjyw_mondo_relaxed.owl endodermal sinus pattern testicular yolk sac tumor|testicular yolk sac tumor, endodermal sinus pattern UMLS:C1515303|DOID:7302|NCIT:C39927 owl:Class MONDO:0022013 biolink:NamedThing Boerhaave syndrome A syndrome characterized by spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part. tmpaxzxjjyw_mondo_relaxed.owl spontaneous perforation of esophagus|spontaneous esophageal perforation|boerhaave's syndrome|Boerhave syndrome|spontaneous perforation of the esophagus|Boerhaave syndrome|spontaneous rupture of the esophagus|Boerhaave's syndrome|spontaneous rupture of esophagus UMLS:C0238115|SCTID:19995004|MESH:C536571|GARD:0009261 https://rarediseases.info.nih.gov/diseases/9261/boerhaave-syndrome owl:Class MONDO:0021966 biolink:NamedThing baker Vinters syndrome A very rare syndrome characterized by craniosynostosis (premature fusion of skull bones), hydrocephalus (an abnormal increase of cerebrospinal fluid in the ventricles of the brain) and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies GARD:0000808|MESH:C537899|UMLS:C2931659 https://rarediseases.info.nih.gov/diseases/808/baker-vinters-syndrome owl:Class MONDO:0001965 biolink:NamedThing sclerosing keratitis tmpaxzxjjyw_mondo_relaxed.owl sclerokeratitis ICD10:H16.33|SCTID:27886001|DOID:14444|ICD9:370.54|UMLS:C0155090 owl:Class MONDO:0030992 biolink:NamedThing short stature, oligodontia, dysmorphic facies, and motor delay tmpaxzxjjyw_mondo_relaxed.owl SOFM OMIM:619234 owl:Class UBERON:0005567 biolink:NamedThing rhombomere 1 lateral wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010847 biolink:NamedThing ulna pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060496 biolink:NamedThing neurodevelopmental disorder with hypotonia, neuropathy, and deafness tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with hypotonia, neuropathy, and deafness|NEDHND|myopathy, Congenital, with neuropathy and Deafness OMIM:617519|UMLS:C4479603 owl:Class GO:0051351 biolink:NamedThing positive regulation of ligase activity Any process that activates or increases the frequency, rate or extent of ligase activity, the catalysis of the ligation of two substances with concomitant breaking of a diphosphate linkage, usually in a nucleoside triphosphate. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of ligase activity|upregulation of ligase activity|ligase activator|stimulation of ligase activity|activation of ligase activity|up regulation of ligase activity owl:Class MONDO:0019959 biolink:NamedThing glucagonoma Glucagonoma is a rare, functioning type of pancreatic neuroendocrine tumor (PNET) that hypersecretes glucagon, leading to a syndrome comprised of necrolytic migratory erythema, diabetes mellitus, anemia, weight loss, mucosal abnormalities, thromboembolism, gastrointestinal and neuropsychiatric symptoms. tmpaxzxjjyw_mondo_relaxed.owl glucagonoma|glucagonoma syndrome|pancreatic glucagonoma GARD:0002496|MESH:D005935|UMLS:C0017689|EFO:1000441|Orphanet:97280|MedDRA:10018404|NCIT:C95597|SCTID:16424000|ICD10:E16.8 owl:Class MONDO:0004243 biolink:NamedThing vulvar proximal-type epithelioid sarcoma An epithelioid sarcoma of the proximal type involving the vulva. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1520093|DOID:7491|NCIT:C40319 owl:Class HGNC:18806 biolink:NamedThing CAMTA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011719 biolink:NamedThing gastrointestinal stromal tumor Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1. tmpaxzxjjyw_mondo_relaxed.owl gant|gastrointestinal stromal neoplasm|gastrointestinal stromal tumor|gastrointestinal stromal tumor (gist)|gastrointestinal stromal sarcoma|gist|stromal tumor of gastrointestinal tract|gastrointestinal stromal tumors Orphanet:44890|ICD10:C26.9|MESH:D046152|ICDO:8936/1|ONCOTREE:GIST|SCTID:420120006|MedDRA:10051066|DOID:9253|GARD:0008598|UMLS:C3179349|OMIM:606764|NCIT:C3868|UMLS:C0238198 owl:Class MONDO:0012285 biolink:NamedThing left ventricular noncompaction 2 tmpaxzxjjyw_mondo_relaxed.owl left ventricular noncompaction 2|LVNC2 Orphanet:54260|UMLS:C1836118|OMIM:609470 owl:Class MONDO:0006396 biolink:NamedThing rectal villous adenoma A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by a villous architectural pattern. The neoplastic glandular cells have dysplastic features. tmpaxzxjjyw_mondo_relaxed.owl villous adenoma of the rectum|rectum villous adenoma|rectal villous adenoma|villous adenoma of rectum EFO:1000506|UMLS:C0730199|NCIT:C4919|SCTID:312823001 owl:Class MONDO:0016473 biolink:NamedThing familial rhabdoid tumor A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma. tmpaxzxjjyw_mondo_relaxed.owl RTPS|hereditary rhabdoid tumor|rhabdoid tumor predisposition syndrome|familial rhabdoid tumor|familial posterior fossa brain tumor syndrome of infancy|rhabdoid predisposition syndrome ICD10:C49.9|OMIMPS:609322|Orphanet:231108|OMIM:609322|NCIT:C93268|UMLS:C2985524|UMLS:CN201468|OMIM:613325 owl:Class NCBITaxon:147389 biolink:NamedThing Triticeae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044640 biolink:NamedThing charcot-marie-tooth disease type 2T tmpaxzxjjyw_mondo_relaxed.owl CMT2T|AR-CMT2T|autosomal recessive axonal Charcot-Marie-Tooth disease type 2T OMIM:617017|UMLS:CN237675|Orphanet:495274 owl:Class MONDO:0015007 biolink:NamedThing spastic paraplegia, intellectual disability, nystagmus, and obesity; tmpaxzxjjyw_mondo_relaxed.owl SINO|spastic paraplegia, intellectual disability, nystagmus, and obesity UMLS:C4284592|OMIM:617296|Orphanet:521390 owl:Class MONDO:0019335 biolink:NamedThing mild hyperphenylalaninemia Mild hyperphenylalaninemia (HPA) is a rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by mild symptoms of HPA. tmpaxzxjjyw_mondo_relaxed.owl mild HPA|non-PKU HPA|mHPA ICD10:E70.1|Orphanet:79651 owl:Class UBERON:3000977 biolink:NamedThing body external integument structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014141 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14|congenital muscular dystrophy-GMPPB related|muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14|MDDGB14|muscular dystrophy, congenital, GMPPB-related Orphanet:370968|UMLS:C3809221|Orphanet:370959|OMIM:615351 owl:Class MONDO:0003026 biolink:NamedThing gallbladder angiosarcoma An angiosarcoma that is located in the gallbladder. tmpaxzxjjyw_mondo_relaxed.owl angiosarcoma of the gallbladder|hemangiosarcoma of the gallbladder|angiosarcoma of gallbladder|gallbladder angiosarcoma|gall bladder angiosarcoma (disease)|angiosarcoma (disease) of gall bladder|hemangiosarcoma of gallbladder|gallbladder hemangiosarcoma NCIT:C5840|DOID:4513|UMLS:C1333742 owl:Class MONDO:0008888 biolink:NamedThing Williams-Campbell syndrome tmpaxzxjjyw_mondo_relaxed.owl tracheobronchomalacia|Williams-Campbell syndrome|BRONCHOMALACIA Orphanet:411501|SCTID:54203008|GARD:0007791|ICD10:Q33.4|OMIM:211450|ICD9:748.3 owl:Class MONDO:0012822 biolink:NamedThing colorectal cancer, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl CRCS6|colorectal cancer, susceptibility to, 6|colorectal cancer, susceptibility to, on chromosome 8Q23 OMIM:612231 owl:Class HGNC:7 biolink:NamedThing A2M tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015387 biolink:NamedThing nasolacrimal duct cyst Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females. tmpaxzxjjyw_mondo_relaxed.owl dacryocele|dacryocystocele|nasolacrimal mucocele Orphanet:141083|ICD10:H04.6 owl:Class MONDO:0011387 biolink:NamedThing psoriasis 4, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl psoriasis 4, susceptibility to|PSORS4 DOID:0111280|OMIM:603935 owl:Class HP:0000613 biolink:NamedThing Photophobia Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. tmpaxzxjjyw_mondo_relaxed.owl Extreme sensitivity of the eyes to light|Photodysphoria|Light hypersensitivity SNOMEDCT_US:246622003|SNOMEDCT_US:409668002|UMLS:C0085636|UMLS:C4020887|MSH:D020795 Note that the term photodysphoria is used to describe extreme photophobia. human_phenotype owl:Class MONDO:0004275 biolink:NamedThing osteosarcoma arising in bone Paget disease A sarcomatous transformation of pre-existing Paget disease of the bone. Osteosarcomas arising from Paget disease of the bone are high grade lesions and usually have a poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl Paget osteosarcoma|osteosarcoma arising in bone Paget's disease|osteosarcoma arising in Paget disease of bone|osteosarcoma arising in bone Paget disease|osteosarcoma arising in Paget's disease of bone|osteosarcoma arising in osteitis deformans|Paget's osteosarcoma|osteosarcoma arising in osseous Paget's disease DOID:7542|NCIT:C6469|UMLS:C1335148|ICDO:9184/3 owl:Class MONDO:0002947 biolink:NamedThing adamantinoid basal cell epithelioma tmpaxzxjjyw_mondo_relaxed.owl skin adamantinoid basal cell epithelioma|adamantinoid basal cell carcinoma|skin adamantinoid basal cell carcinoma|melanotic adamantinoma of skin|basal cell carcinoma - adamantinoid UMLS:C1304295|DOID:4290|SCTID:402524007|NCIT:C7585 owl:Class HGNC:4888 biolink:NamedThing CFHR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17967 biolink:NamedThing IRAK4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:137980 biolink:NamedThing metalloid atom An atom of an element that exhibits properties that are between those of metals and nonmetals, or that has a mixture of them. The term generally includes boron, silicon, germanium, arsenic, antimony, and tellurium, while carbon, aluminium, selenium, polonium, and astatine are less commonly included. tmpaxzxjjyw_mondo_relaxed.owl metalloid|metalloids owl:Class MONDO:0019416 biolink:NamedThing X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome is characterized by moderate intellectual deficit, bilateral single palmar creases, seizures, variable hypogammaglobulinemia and characteristic features (synophrys, prognathism, and hirsutism). It has been reported in three males from two generations of one family. All underwent progressive neurological deterioration. This syndrome is transmitted as an X-linked trait, and the causative gene is located between Xq21.33 and Xq23. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:85317|ICD10:Q87.8|UMLS:CN206172 owl:Class HGNC:3951 biolink:NamedThing FXN tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3431 biolink:NamedThing ERBB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001120 biolink:NamedThing left lobe of thyroid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003808 biolink:NamedThing Abnormal muscle tone tmpaxzxjjyw_mondo_relaxed.owl Abnormal muscle tone UMLS:C0852413 human_phenotype owl:Class MONDO:0003164 biolink:NamedThing cauda equina neoplasm A neoplasm involving a cauda equina. tmpaxzxjjyw_mondo_relaxed.owl Cauda equina neoplasms|tumor of the Cauda equina|cauda equina neoplasm (disease)|cauda equina tumor|neoplasm of cauda equina|tumor of cauda equina|tumor of Cauda equina|neoplasm of the Cauda equina NCIT:C5479|UMLS:C1263892|SCTID:126963001|DOID:4847 owl:Class GO:1901699 biolink:NamedThing cellular response to nitrogen compound Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. tmpaxzxjjyw_mondo_relaxed.owl cellular response to nitrogen molecular entity owl:Class MONDO:0007466 biolink:NamedThing DNA, satellite, 3 tmpaxzxjjyw_mondo_relaxed.owl HS3|D1Z1|DNA, satellite, type 3|DNA, satellite, III OMIM:126370 Editor note: TODO check owl:Class MONDO:0019319 biolink:NamedThing verrucous nevus A benign wart-like, pigmented skin lesion appearing on various parts of the body at birth or early in childhood, usually in linear groupings. tmpaxzxjjyw_mondo_relaxed.owl verrucous Epidermal Nevus NCIT:C4674|Orphanet:79467|SCTID:398723007|ICD10:Q82.5|UMLS:C0362030 owl:Class MONDO:0004694 biolink:NamedThing hepatopulmonary syndrome Hepatopulmonary syndrome (HPS) is a lung disease characterized by widening of arteries and veins (dilatation) in the lungs in people who have chronic liver disease. Because of the dilated vases, the workload of the heart increases and the blood pumped to the body does not have enough oxygen, leading to a decreased level of oxygen in the blood (hypoxemia). The normal diameter of the lung vessels ranges between 8 and 15 μm whereas when in HPS rises to between 15 and 500 μm. While many people with HPS don't have any obvious problems, the main reported symptom is shortness of breath (dyspnea) that is worse when standing or sitting up, and is relieved when lying down (platypnea). Symptoms related to chronic liver disease (generally cirrhosis) include small red spots on the skin (spider angiomas) and abnormal vascular dilatations. Some other symptoms that have been described are infections in the brain (brain abscesses), brain bleeding and an increased number of red blood cells in the blood (polycythemia). There is currently no effective medication for HPS. Oxygen therapy may improve the breathing in some cases. Liver transplant is an efficient treatment which improves the symptoms, even in severe cases. tmpaxzxjjyw_mondo_relaxed.owl ICD9:417.8|EFO:1001346|ICD10:K76.81|SCTID:371067004|DOID:900|MESH:D020065|GARD:0013384|UMLS:C0600452|ICD9:573.5 https://rarediseases.info.nih.gov/diseases/13384/hepatopulmonary-syndrome owl:Class MONDO:0001692 biolink:NamedThing pedophilia A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving sexual activity with a prepubescent child or children. tmpaxzxjjyw_mondo_relaxed.owl Paedophilia MESH:D010378|ICD10:F65.4|ICD9:302.2|DOID:13351|SCTID:84002002|NCIT:C94355 owl:Class MONDO:0054776 biolink:NamedThing epilepsy, familial focal, with variable foci 4 tmpaxzxjjyw_mondo_relaxed.owl FFEVF4|epilepsy, FAMILIAL focal, with variable foci 4 OMIM:617935|UMLS:CN244552 owl:Class MONDO:0002075 biolink:NamedThing spontaneous tension pneumothorax tmpaxzxjjyw_mondo_relaxed.owl DOID:1672|UMLS:C0155907|SCTID:196102003|ICD9:512.0|ICD10:J93.0 owl:Class MONDO:0012100 biolink:NamedThing major depressive disorder 2 tmpaxzxjjyw_mondo_relaxed.owl major depressive disorder type 2|unipolar depression 2|MDD2|major depressive disorder 2 MESH:C563875|UMLS:C1837529|OMIM:608691 owl:Class MONDO:0017496 biolink:NamedThing congenital absence of thigh and lower leg with foot present, unilateral tmpaxzxjjyw_mondo_relaxed.owl Femorotibiofibular intercalary transverse meromelia, unilateral ICD10:Q72.1|Orphanet:295089 owl:Class GO:0051560 biolink:NamedThing mitochondrial calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings. tmpaxzxjjyw_mondo_relaxed.owl calcium ion homeostasis in mitochondria|mitochondrial calcium ion concentration regulation|calcium ion homeostasis in mitochondrion|regulation of calcium ion concentration in mitochondria|regulation of calcium ion concentration in mitochondrion|regulation of mitochondrial calcium ion concentration owl:Class MONDO:0003181 biolink:NamedThing lung adenoid cystic carcinoma A rare usually indolent lung carcinoma characterized by a cribiform and tubular pattern and the presence of glandular epithelial cells. Clinical symptoms include shortness of breath, cough, wheeze, hemopytsis and chest pain. tmpaxzxjjyw_mondo_relaxed.owl LUACC|adenoid cystic carcinoma of lung|lung adenoid cystic cancer|adenocystic carcinoma of lung|pulmonary adenocystic carcinoma|lung adenoid cystic carcinoma|pulmonary adenoid cystic carcinoma|adenocystic carcinoma of the lung|adenoid cystic carcinoma of the lung|lung adenocystic carcinoma NCIT:C5666|DOID:4872|UMLS:C1334439|ONCOTREE:LUACC|SCTID:707466008|ICD9:162.9 owl:Class MONDO:0019465 biolink:NamedThing nodal marginal zone B-cell lymphoma Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported. tmpaxzxjjyw_mondo_relaxed.owl nodal marginal zone B-cell lymphoma|NMZL|Monocytoid B-cell lymphoma|nodal marginal zone lymphoma|nodal marginal zone B-cell lymph. Orphanet:86867|SCTID:277623009|DOID:0080211|ICD10:C83.0|ONCOTREE:NMZL|NCIT:C8863|MedDRA:10029460|UMLS:C0855139 owl:Class MONDO:0011812 biolink:NamedThing Duane-radial ray syndrome A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl acro-renal-ocular syndrome|DR syndrome|Okihiro syndrome|Duane anomaly with radial ray abnormalities and deafness|Duane-radial ray syndrome|DRRS|Duane anomaly with radial abnormalities and deafness|acrorenocular syndrome Orphanet:959|OMIM:607323|ICD9:759.89|DOID:0060747|Orphanet:93293|SCTID:699867001|ICD10:Q87.8|SCTID:720415006|GARD:0009182|UMLS:CN206803 https://rarediseases.info.nih.gov/diseases/9182/duane-radial-ray-syndrome owl:Class MONDO:0041825 biolink:NamedThing bacterial meningitis caused by gram-negative bacteria tmpaxzxjjyw_mondo_relaxed.owl meningitis with gram negative bacteria|bacterial meningitis due to gram-negative bacteria|gram-negative bacterial meningitis|bacterial meningitis caused by gram-negative bacteria UMLS:C0854215|SCTID:425887005 owl:Class NCBITaxon:135625 biolink:NamedThing Pasteurellales tmpaxzxjjyw_mondo_relaxed.owl Pasteruellaceae group GC_ID:11|PMID:16280474 ncbi_taxonomy owl:Class IAO:8000015 biolink:NamedThing template generated ontology module An ontology module that is automatically generated from a template specification and fillers for slots in that template. tmpaxzxjjyw_mondo_relaxed.owl template generated ontology module owl:Class IAO:8000014 biolink:NamedThing generated ontology module An ontology module that is automatically generated, for example via a SPARQL query or via template and a CSV. tmpaxzxjjyw_mondo_relaxed.owl TODO: Add axioms (using PROV-O?) that indicate this is the output-of some reasoning process generated ontology module owl:Class MONDO:0005351 biolink:NamedThing anorexia nervosa A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea. tmpaxzxjjyw_mondo_relaxed.owl SCTID:56882008|NCIT:C34387|EFO:0004215|ICD9:307.1|DOID:8689|MESH:D000856|OMIM:610269|ICD10:F50.0|Orphanet:36297|ICD10:F50.00 owl:Class MONDO:0013360 biolink:NamedThing brachyolmia, Maroteaux type Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias. tmpaxzxjjyw_mondo_relaxed.owl brachyolmia type 2|brachyolmia, Maroteaux type|BCYM2 ICD10:Q76.3|SCTID:389165004|Orphanet:93302|OMIM:613678 owl:Class HGNC:14677 biolink:NamedThing DEAF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017530 biolink:NamedThing polysyndactyly, bilateral tmpaxzxjjyw_mondo_relaxed.owl preaxial polydactyly type 4, bilateral Orphanet:295161|UMLS:CN203261|ICD10:Q70.4 owl:Class HP:0031694 biolink:NamedThing Severe adenovirus infection An unusually severe adenovirus infection. tmpaxzxjjyw_mondo_relaxed.owl 2017-12-17 22:36:24+00:00 Adenoviruses can cause an array of clinical diseases, including conjunctivitis, gastroenteritis, hepatitis, myocarditis, and pneumonia. Most of these occur in children younger than the age of 5 years and are generally self-limiting illnesses. peter human_phenotype owl:Class GO:0042995 biolink:NamedThing cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon. tmpaxzxjjyw_mondo_relaxed.owl cellular projection|cell process|cellular process owl:Class NCBITaxon:186634 biolink:NamedThing Otomorpha tmpaxzxjjyw_mondo_relaxed.owl Ostarioclupeomorpha|Otocephala GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:186625 biolink:NamedThing Clupeocephala tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class ENVO:01000307 biolink:NamedThing saline water environment An environmental system which has its properties and dynamics determined by saline water. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1905153 biolink:NamedThing regulation of membrane invagination Any process that modulates the frequency, rate or extent of membrane invagination. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011222 biolink:NamedThing glaucoma 1, open angle, D tmpaxzxjjyw_mondo_relaxed.owl glaucoma 1, open angle, D|glaucoma, primary open angle, adult-onset|GLC1D MESH:C566551|OMIM:602429|UMLS:C1865427 owl:Class MONDO:0014098 biolink:NamedThing CIDEC-related familial partial lipodystrophy tmpaxzxjjyw_mondo_relaxed.owl lipodystrophy, familial partial, associated with Cidec mutations|lipodystrophy, familial partial, type 5|CIDEC-related FPLD|FPLD5|CIDEC-related familial partial lipodystrophy OMIM:615238|DOID:0070203|GARD:0013125|UMLS:C3808940|ICD10:E88.1|Orphanet:435651 owl:Class HGNC:16429 biolink:NamedThing LIAS tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1648037 biolink:NamedThing Poodae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007209 biolink:NamedThing Weismann-Netter syndrome Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated. tmpaxzxjjyw_mondo_relaxed.owl Toxopachyosteose Diaphysaire Tibio-Peroniere|Weismann-Netter-Stuhl syndrome|Weismann Netter syndrome|bowing of legs, anterior with dwarfism|Weismann-Netter syndrome|WNS|anterior bowing of legs with dwarfism|bowing of legs, anterior, with dwarfism|WEISMANN-NETTER syndrome SCTID:715532007|Orphanet:3344|OMIM:112350|UMLS:C1862172|MESH:C537082|GARD:0005232|ICD10:Q77.8 owl:Class MONDO:0009449 biolink:NamedThing ciliary dyskinesia with defective radial spokes tmpaxzxjjyw_mondo_relaxed.owl immotile cilia syndrome, due to defective radial spokes|cilia with defective radial spokes|ciliary dyskinesia with defective radial spokes|immotile cilia syndrome due to defective radial spokes UMLS:C0340035|SCTID:233664005|GARD:0002981|OMIM:242670|MESH:C536286|ICD9:759.89|Orphanet:244 owl:Class MONDO:0013367 biolink:NamedThing long QT syndrome 2 An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death. tmpaxzxjjyw_mondo_relaxed.owl long QT syndrome 2/5, digenic|long QT syndrome 2/3, digenic|long QT syndrome 1/2, digenic|long QT syndrome 2|long QT syndrome 2/9, digenic|long QT syndrome 2, acquired, susceptibility to|long QT syndrome type 2|LQT2 OMIM:613688|GARD:0003285|Orphanet:101016|UMLS:C3150943|NCIT:C137957|DOID:0110645|ICD10:I45.8|HGNC:6251|Orphanet:768|MESH:C563614 https://rarediseases.info.nih.gov/diseases/3285/long-qt-syndrome-2 owl:Class NCBITaxon:1933309 biolink:NamedThing Oropouche orthobunyavirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008665 biolink:NamedThing ptosis-vocal cord paralysis syndrome Ptosis-vocal cord paralysis syndrome is a rare, hereditary disorder with ptosis characterized by the combination of congenital bilateral recurrent laryngeal nerve paralysis and congenital bilateral ptosis. There have been no further descriptions in the literature since 1983. tmpaxzxjjyw_mondo_relaxed.owl congenital bilateral recurrent nerve paralysis and ptosis|tucker syndrome|vocal cord paralysis and ptosis|ptosis vocal cord paralysis Orphanet:2997|MESH:C536923|OMIM:193240|UMLS:C1860403|GARD:0000427 owl:Class MONDO:0006257 biolink:NamedThing jejunal neuroendocrine tumor G1 A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the jejunum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent. tmpaxzxjjyw_mondo_relaxed.owl jejunum neuroendocrine neoplasm G1|grade 1 neuroendocrine neoplasm of jejunum|jejunum neuroendocrine tumor, well differentiated, low grade|jejunum carcinoid tumor|jejunum carcinoid tumor (disease)|jejunum NET G1|jejunal carcinoid tumor|jejunal NET G1|carcinoid tumor of jejunum|carcinoid tumor of the jejunum UMLS:C1334296|EFO:1000308|NCIT:C6429 owl:Class MONDO:0011557 biolink:NamedThing radiation sensitivity/chromosome instability syndrome, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl radiation sensitivity/chromosome instability syndrome, autosomal dominant OMIM:605463|MESH:C565326|UMLS:C1854244 owl:Class UBERON:0004463 biolink:NamedThing musculature of hindlimb stylopod tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100017 biolink:NamedThing pityriasis rubra pilaris A group of skin conditions that cause constant inflammation and scaling of the skin. People with PRP have reddish, scaly patches that may occur everywhere on the body, or only on certain areas. Some people with PRP also develop thickened skin on the underside of the hands and feet (palmoplantar keratoderma), various nail abnormalities, and/or thinning of the hair. There are several types of PRP classified by age when symptoms begin, body areas involved, and whether other conditions are present. This condition occurs in adults (adult onset PRP) as well as children (juvenile onset PRP). tmpaxzxjjyw_mondo_relaxed.owl ICD10:L44.0|DOID:9212|UMLS:C0032027|NCIT:C85014|SCTID:3755001|MESH:D010916|ICD9:696.4|GARD:0007401 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3470|https://rarediseases.info.nih.gov/diseases/7401/pityriasis-rubra-pilaris owl:Class UBERON:0009652 biolink:NamedThing bronchus basement membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021902 biolink:NamedThing aortopulmonary window A rare, congenital anomaly in the aorta in which a communication exists between the ascending aorta and the pulmonary artery. tmpaxzxjjyw_mondo_relaxed.owl AP window|aortopulmonary septal defect|APW|aorto-pulmonary window|APSD|aortopulmonary window|aortic-pulmonary window NCIT:C101050|MESH:D001028|HP:0011604|GARD:0000745|SCTID:17024001 Editor note: NCIT treats as disease but consider obsoleting in favor og HP https://rarediseases.info.nih.gov/diseases/745/aortopulmonary-window owl:Class MONDO:0014043 biolink:NamedThing microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. tmpaxzxjjyw_mondo_relaxed.owl primary autosomal recessive microcephaly 10|microcephaly 10, primary, autosomal recessive|microcephalic primordial dwarfism, Walsh type|MCPH10 SCTID:724141003|DOID:0070294|ICD10:Q87.1|UMLS:C4510378|Orphanet:329228|OMIM:615095|UMLS:C3554499 owl:Class MONDO:0043361 biolink:NamedThing May-Thurner syndrome A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation. tmpaxzxjjyw_mondo_relaxed.owl Iliocaval compression syndromes|May Thurner syndrome|syndrome, May-Thurner|compression syndromes, Iliocaval|syndrome, Cockett|compression syndrome, Iliocaval|Cockett syndrome|iliac vein compression syndrome|syndrome, Iliocaval compression|Iliocaval compression syndrome|Iliac vein compression syndrome|May-Thurner syndrome|syndromes, Iliocaval compression UMLS:C3165062|SCTID:448804008|MESH:D062108|GARD:0012141 owl:Class HGNC:7456 biolink:NamedThing MT-ND2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008587 biolink:NamedThing tracheobronchopathia osteochondroplastica Tracheobronchopathia osteochondroplastica (TO) is an idiopathic and benign disease of the large airways characterized by submucosal osteocartilaginous nodules presenting in the trachea with or without the involvement of the major bronchi. tmpaxzxjjyw_mondo_relaxed.owl tracheobronchopathia osteochondroplastica|tracheopathia osteoplastica|tracheobronchopathia osteoplastica|cartilaginous or bony projections into the tracheobronchial lumen MESH:C536977|OMIM:189961|Orphanet:3348|UMLS:CN204359|ICD10:J98.0|GARD:0005235|SCTID:54675009 owl:Class MONDO:0100383 biolink:NamedThing acute myeloid leukemia, t(11;19)(q23;p13) Any acute myeloid leukemia that has the chromosomal anomaly t(11;19)(q23;p13). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 11 and the short arm (p13) of chromosome 19. It is associated with KMT2A (MLL) fusions, including those with MLLT1 (ENL) and ELL, and acute myeloid leukemia.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(11;19)(q23;p13) NCIT:C168764 owl:Class NCBITaxon:189359 biolink:NamedThing Xylariales incertae sedis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:67607 ncbi_taxonomy owl:Class NCBITaxon:37989 biolink:NamedThing Xylariales tmpaxzxjjyw_mondo_relaxed.owl Sphaeriales GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006603 biolink:NamedThing reactive cutaneous fibrous lesion A benign, epidermal skin lesion characterized by overexpression of collagen during wound healing. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27549|DOID:2053|UMLS:C1335666|EFO:1000759 owl:Class HGNC:1786 biolink:NamedThing CDKN1C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001739 biolink:NamedThing purulent labyrinthitis A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. tmpaxzxjjyw_mondo_relaxed.owl acute suppurative labyrinthitis|bacterial labyrinthitis|suppurative labyrinthitis DOID:13534|ICD9:386.33|SCTID:24817009|UMLS:C0155506 owl:Class CHEBI:52211 biolink:NamedThing physiological role tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017610 biolink:NamedThing epidermolysis bullosa simplex Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma. tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa simplex|EBS|EEB|epidermolysis bullosa intraepidermic OMIM:131760|OMIM:615425|ICD9:757.39|MESH:D016110|OMIM:131960|ICD10:Q81.0|DOID:4644|GARD:0010752|OMIM:601001|OMIM:131800|SCTID:67144006|NCIT:C84692|UMLS:C0079298|Orphanet:304|OMIM:131900 https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex owl:Class NCBITaxon:644710 biolink:NamedThing Anisakis simplex complex tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6268 biolink:NamedThing Anisakis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018717 biolink:NamedThing mixed cystic lymphatic malformation tmpaxzxjjyw_mondo_relaxed.owl mixed cystic lymphangioma Orphanet:458792|ICD10:D18.1 owl:Class CL:0002595 biolink:NamedThing smooth muscle cell of the subclavian artery A smooth muscle cell of the subclavian artery. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-06T05:01:52Z cell owl:Class CHEBI:33658 biolink:NamedThing arene Any monocyclic or polycyclic aromatic hydrocarbon. tmpaxzxjjyw_mondo_relaxed.owl arenes|aromatic hydrocarbons|arene owl:Class MONDO:0008346 biolink:NamedThing pulmonary hemosiderosis Idiopathic pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients. tmpaxzxjjyw_mondo_relaxed.owl pulmonary hemosiderosis|idiopathic pulmonary hemosiderosis|brown lung|brown induration|siderosis|pulmonary siderosis|alveolar hypoventilation syndrome OMIM:178550|DOID:10328|DOID:12118|SCTID:40527005|ICD10:J63.4|GARD:0007645|ICD10:E83.1+|ICD9:516.1|OMIM:235500|ICD10:J84.03|ICD10:J99.8*|GARD:0006763|MESH:D012806|Orphanet:99931 https://rarediseases.info.nih.gov/diseases/7645/siderosis owl:Class MONDO:0009916 biolink:NamedThing 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production. tmpaxzxjjyw_mondo_relaxed.owl polycystic ovary syndrome due to 17-ketosteroid reductase deficiency|17 beta hydroxysteroid dehydrogenase III deficiency|pseudohermaphroditism, Male, with gynecomastia|17 beta HSD3 deficiency|polycystic ovarian disease due to 17-ketosteroid reductase deficiency|17-KSR deficiency|17-ketosteroidreductase deficiency|46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency|17 alpha KSR deficiency|neutral 17 beta hydroxysteroid oxidoreductase deficiency|17-ketoreductase deficiency|neutral 17-Beta-hydroxysteroid oxidoreductase deficiency|17 Beta HSD3 deficiency|17-BETA hydroxysteroid dehydrogenase III deficiency|17-ketosteroid reductase deficiency of testis|17-beta hydroxysteroid dehydrogenase 3 deficiency|17 alpha ketosteroid reductase deficiency of testis|Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency|Male pseudoherma-phroditism with gynecomastia|17-Beta hydroxysteroid dehydrogenase 3 deficiency|17-beta-hydroxysteroid dehydrogenase 3 deficiency GARD:0005659|MESH:C537805|NCIT:C120203|SCTID:50658006|ICD10:E29.1|Orphanet:752|MESH:C564868|OMIM:264300 owl:Class MONDO:0009386 biolink:NamedThing hyperlexia tmpaxzxjjyw_mondo_relaxed.owl compulsive reading|hyperlexia|precocious reading MESH:C565500|OMIM:238350 owl:Class NCBITaxon:5654 biolink:NamedThing Trypanosomatidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011788 biolink:NamedThing cloverleaf skull-multiple congenital anomalies syndrome This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. tmpaxzxjjyw_mondo_relaxed.owl multiple congenital anomalies syndrome with cloverleaf skull ICD10:Q87.8|MESH:C564611|SCTID:717771007|OMIM:607161|Orphanet:93267|UMLS:C1846671 owl:Class MONDO:0008604 biolink:NamedThing triphalangeal thumb with double phalanges tmpaxzxjjyw_mondo_relaxed.owl triphalangeal thumb with double phalanges OMIM:190500|UMLS:C1860807|MESH:C566028 owl:Class HGNC:11183 biolink:NamedThing SON tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6483 biolink:NamedThing LAMA3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6005 biolink:NamedThing IL21 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032909 biolink:NamedThing mitochondrial complex 3 deficiency, nuclear type 10 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10|MC3DN10 OMIM:618775 owl:Class MONDO:0002337 biolink:NamedThing intra-abdominal hemangioma A hemangioma arising from organs within the abdominal cavity. tmpaxzxjjyw_mondo_relaxed.owl hemangioma of abdominal cavity|abdominal cavity hemangioma|hemangioma, intra-abdominal|hemangioma of intra-abdominal structures|hemangioma of intra-abdominal structure|intra-abdominal hemangioma UMLS:C0154052|ICD9:228.04|SCTID:189197001|DOID:254|NCIT:C3635|ICD10:D18.03 owl:Class MONDO:0008357 biolink:NamedThing radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. tmpaxzxjjyw_mondo_relaxed.owl radial hypoplasia, triphalangeal thumbs and hypospadias|radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema|Schmitt-Gillenwater-Kelly syndrome GARD:0004626|SCTID:716092007|Orphanet:2252|OMIM:179250|MESH:C536262|ICD10:Q87.2 owl:Class MONDO:0024309 biolink:NamedThing neuropathy, hereditary sensory and autonomic, type 2A A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13 tmpaxzxjjyw_mondo_relaxed.owl HSN 2A|acroosteolysis, Giaccai type|neuropathy, hereditary sensory, type 2A|acroosteolysis, neurogenic|hereditary sensory and autonomic neuropathy type 2A|neuropathy, hereditary sensory radicular, autosomal recessive|neuropathy, congenital sensory|neuropathy, hereditary sensory and autonomic, type IIA|Morvan disease|hereditary sensory and autonomic neuropathy type IIA|HSAN 2A|HSAN2A|neuropathy, progressive sensory, of children OMIM:201300|DOID:0070155|Orphanet:970 Editor note: https://www.ncbi.nlm.nih.gov/medgen/148334 merges this with Morvan, but we dispute this. See https://github.com/monarch-initiative/mondo-build/issues/125 owl:Class MONDO:0004416 biolink:NamedThing plasmacytoid variant infiltrating bladder urothelial carcinoma tmpaxzxjjyw_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, plasmacytoid variant|plasmacytoid/signet ring cell bladder carcinoma UMLS:C1512742|DOID:7968|ONCOTREE:SRCBC|NCIT:C39823 owl:Class UBERON:0012321 biolink:NamedThing deep cervical artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020453 biolink:NamedThing congenital partial pulmonary venous return anomaly Partial pulmonary venous return (PAPVR) is a form of congenital pulmonary venous return where one or a few of the pulmonary veins drain into the right atrium or one of its tributaries instead of the left atrium. Some patients can be asymptomatic while others can manifest with non-specific signs such as frequent respiratory infections, fatigue and exertional dyspnea. tmpaxzxjjyw_mondo_relaxed.owl Partial anomalous pulmonary Venous connection|Partial anomalous pulmonary Venous return NCIT:C99004|Orphanet:99124|SCTID:68237008|ICD10:Q26.3 owl:Class NCBITaxon:480117 biolink:NamedThing Cyclorrhapha tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class PCO:0000018 biolink:NamedThing single-species collection of organisms A material entity that has as parts two or more organisms, viruses, or viroids of the same species and no members of any other species. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:136859 biolink:NamedThing pro-agent A compound that, on administration, undergoes conversion by biochemical (enzymatic), chemical (possibly following an enzymatic step), or physical (e.g. photochemical) activation processes before becoming the active agent for which it is a pro-agent. tmpaxzxjjyw_mondo_relaxed.owl proagent|pro-agents|proagents owl:Class CHEBI:37246 biolink:NamedThing elemental sodium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018428 biolink:NamedThing 9q31.1q31.3 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl Del(9)(q31.1q31.3)|monosomy 9q31.1q31.3 UMLS:CN226140|Orphanet:401923|ICD10:Q93.5 owl:Class MONDO:0024386 biolink:NamedThing large cell lung carcinoma, clear cell variant A morphologic variant of large cell lung carcinoma characterized by a predominance of clear cells that may or may not contain glycogen. tmpaxzxjjyw_mondo_relaxed.owl clear cell lung carcinoma, large cell type|large cell lung carcinoma, clear cell variant|clear cell carcinoma of the lung|clear cell carcinoma of the lung, large cell type|clear cell carcinoma of lung, large cell type UMLS:C1707407|ONCOTREE:CCLC|NCIT:C4451 owl:Class MONDO:0014690 biolink:NamedThing dyskeratosis congenita, autosomal dominant 6 A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1. tmpaxzxjjyw_mondo_relaxed.owl dyskeratosis congenita, autosomal dominant 6|DKCA6|dyskeratosis congenita, autosomal dominant type 6|autosomal dominant dyskeratosis congenita 6|dyskeratosis congenita, autosomal recessive 7 Orphanet:3322|OMIM:616553|Orphanet:397692|UMLS:C4225284|DOID:0070023 owl:Class MONDO:0018830 biolink:NamedThing Kimura disease Kimura disease is a benign and chronic inflammatory disorder of unknown etiology, occurring mainly in Asian countries (very rarely in Western countries) and predominantly affecting young men, that usually presents with a solitary or multiple non-tender subcutaneous masses in the head and neck region (in particular the preauricular and submandibular area) and/or generalized painless lymphadenopathy, often with salivary gland involvement. Characteristic laboratory findings include blood eosinophilia and markedly elevated serum immunoglobulin E (IgE) levels. It is often associated with autoinflammatory disorders (i.e. ulcerative colitis, bronchial asthma) and a co-existing renal disease. tmpaxzxjjyw_mondo_relaxed.owl eosinophilic lymphogranuloma|eosinophilic lymphofollicular granuloma|angiolymphoid hyperplasia with eosinophilia|eosinophilic lymphofolliculosis|eosinophilic hyperplastic lymphogranuloma|eosinophilic granuloma of soft tissue|Kimura's disease DOID:7365|UMLS:C0033838|MESH:D000796|GARD:0006835|ICD10:I89.8|MedDRA:10048640|Orphanet:482|Wikipedia:Kimura's_disease|EFO:1000722|NCIT:C26867 https://rarediseases.info.nih.gov/diseases/6835/kimura-disease|https://github.com/monarch-initiative/mondo/issues/3599 owl:Class MONDO:0019574 biolink:NamedThing secondary intestinal lymphangiectasia Secondary intestinal lymphangiectasia is an acquired from of intestinal lymphangiectasia manifesting as a protein-losing enteropathy due to another disorder such as CrohnBs disease, congestive heart failure, sarcoidosis, Turner syndrome and often in patients who have undergone a Fontan operation. It is characterized by malabsorption, diarrhea, edema due hypoproteinemia, steatorrhea and serosal effusions. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:90363|SCTID:717255008|UMLS:C4273969|ICD10:I89.0 owl:Class UBERON:0005332 biolink:NamedThing mesonephric S-shaped body tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:12475 biolink:NamedThing Hepatitis delta virus tmpaxzxjjyw_mondo_relaxed.owl hepatitis delta virus HDV|HDV|Hepatitis D virus GC_ID:1 NCBITaxon:12682 ncbi_taxonomy owl:Class MONDO:0024344 biolink:NamedThing pityriasis folliculorum tmpaxzxjjyw_mondo_relaxed.owl pityriasis folliculorum SCTID:200993008|ICD9:696.5|UMLS:C0406312 owl:Class MONDO:0016546 biolink:NamedThing primary orthostatic tremor Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing. tmpaxzxjjyw_mondo_relaxed.owl pot|OT|orthostatic tremor, primary|shaky leg syndrome SCTID:715902009|MESH:C536418|ICD10:G25.2|GARD:0008563|Orphanet:238606 https://rarediseases.info.nih.gov/diseases/8563/primary-orthostatic-tremor owl:Class MONDO:0009870 biolink:NamedThing pili torti Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome. tmpaxzxjjyw_mondo_relaxed.owl pili torti, Ronchese type|pili torti, early-onset|pili torti (disease)|coarse, dry, lusterless hair which breaks off easily|pili torti|twisted hair pili torti (disease) OMIM:261900|SCTID:17170005|ICD10:Q84.1|GARD:0004361|MESH:C562485|HP:0003777|Orphanet:2889 owl:Class HP:0025270 biolink:NamedThing Abnormality of esophagus physiology Any physiological abnormality of the esophagus. tmpaxzxjjyw_mondo_relaxed.owl Functional abnormality of the esophagus|Abnormality of oesophagus physiology|Functional abnormality of the oesophagus 2016-12-18 13:39:06+00:00 HPO:probinson human_phenotype owl:Class UBERON:0012490 biolink:NamedThing muscle layer of anal canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054708 biolink:NamedThing retinitis pigmentosa 80 tmpaxzxjjyw_mondo_relaxed.owl RETINITIS pigmentosa 80|RP80 OMIM:617781 owl:Class MONDO:0008561 biolink:NamedThing thumb deformity tmpaxzxjjyw_mondo_relaxed.owl thumb deformity (disease)|thumb absent or hypoplastic|thumb hypoplastic|thumb deformity thumb deformity (disease) MESH:C536903|OMIM:188100|HP:0001172|GARD:0008482 owl:Class ENVO:01001787 biolink:NamedThing aquatic ecosystem tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019367 biolink:NamedThing regional odontodysplasia Regional odontodysplasia (ROD) is a localized developmental anomaly of the dental tissues. tmpaxzxjjyw_mondo_relaxed.owl ghost teeth Orphanet:83450|MESH:D018126|ICD10:K00.4|SCTID:66063001 owl:Class MONDO:0000413 biolink:NamedThing infancy electroclinical syndrome An electroclinical syndrome with onset in infancy occurring between birth and one year of age. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050703 owl:Class MONDO:0054716 biolink:NamedThing microcephaly 19, primary, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl MCPH19|microcephaly 19, PRIMARY, autosomal recessive|primary autosomal recessive microcephaly 19 OMIM:617800|UMLS:C4540488|DOID:0070281 owl:Class HGNC:6524 biolink:NamedThing LCK tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048593 biolink:NamedThing camera-type eye morphogenesis The process in which the anatomical structures of the eye are generated and organized. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. tmpaxzxjjyw_mondo_relaxed.owl camera-style eye morphogenesis owl:Class HGNC:2568 biolink:NamedThing MAMLD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:9002066 biolink:NamedThing exposure to refrigerant An exposure to refrigerant. tmpaxzxjjyw_mondo_relaxed.owl exposure to refrigerant owl:Class UBERON:0035483 biolink:NamedThing left suprarenal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001025 biolink:NamedThing seminal vesicle chronic gonorrhea Chronic form of gonococcal seminal vesiculitis. tmpaxzxjjyw_mondo_relaxed.owl chronic gonococcal seminal vesiculitis|gonococcal seminal vesiculitis, chronic UMLS:C0153205|DOID:10399|SCTID:23975003|ICD9:098.34 owl:Class MONDO:0022560 biolink:NamedThing benign metastasizing leiomyoma A rare disorder that affects women with a history of uterine leiomyoma, which is found to metastasise within extrauterine sites.The disease develops as a proliferation of multiple nodules composed of smooth muscle cells.The most frequent site of metastasis is the lungs, although other areas may also be affected as well, including some atypical locations, e.g. the heart or spinal cord. tmpaxzxjjyw_mondo_relaxed.owl GARD:0010776 owl:Class HGNC:25662 biolink:NamedThing AAGAB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018615 biolink:NamedThing hemicrania continua Hemicrania continua (HC) is a type of primary headache disorder, which means the headache is not caused by another medical condition. Symptoms of HC include constant mild to moderate pain on one side of the head (unilateral) with periods of more intense, severe, migraine -like pain (exacerbations). These severe pain periods can last from 20 minutes to days. The frequency of exacerbations also varies greatly. The headache stays on the same side of the head and usually without pain free periods. HC is more common in women and most often starts in adulthood, but may begin anywhere from 5 to 67 years of age. Diagnosis of hemicrania continua (HC) is made by ruling out other possible causes of the pain and by clinical symptoms. During the periods of severe pain, at least one of the following symptoms must be present on same side of the body as the headache: watering or red eyes (conjunctival injection), congested or runny nose, or drooping eyelid. In addition, the headache pain must respond to treatment with indomethacin. The cause of HC is unknown. Other treatments for those who cannot tolerate long term indomethacin therapy are being studied. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2349425|GARD:0010795|SCTID:443095000|ICD10:G44.0|ICD9:339.41|Orphanet:443070|ICD10:G44.51|UMLS:CN237652 https://rarediseases.info.nih.gov/diseases/10795/hemicrania-continua owl:Class MONDO:0011460 biolink:NamedThing arrhythmogenic right ventricular dysplasia 6 An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. tmpaxzxjjyw_mondo_relaxed.owl ARVD6|arrhythmogenic right ventricular dysplasia, familial, 6|arrhythmogenic right ventricular cardiomyopathy 6|ARVC6|familial arrhythmogenic right ventricular dysplasia 6|arrhythmogenic right ventricular dysplasia type 6 ICD10:I42.8|UMLS:C1858378|OMIM:604401|DOID:0110075|Orphanet:217656|MESH:C565775 owl:Class MONDO:0001671 biolink:NamedThing mucocele of appendix Accumulation of mucus within the appendix. tmpaxzxjjyw_mondo_relaxed.owl appendiceal mucocele|mucocele of the appendix|Appendicele mucocele ICD9:543.9|UMLS:C0026684|SCTID:53773002|NCIT:C3241|DOID:13248 owl:Class MONDO:0004022 biolink:NamedThing parasagittal meningioma A meningioma that affects the superior sagittal sinus and invades the parasagittal angle. tmpaxzxjjyw_mondo_relaxed.owl DOID:6869|NCIT:C4960|UMLS:C0751304|MESH:D008579 owl:Class MONDO:0017943 biolink:NamedThing autoerythrocyte sensitization syndrome tmpaxzxjjyw_mondo_relaxed.owl psychogenic purpura|Autoerythrocyte sensitization|Autoerythrocyte sensitization purpura|painful bruising syndrome|Gardner-Diamond syndrome|GDS ICD10:D69.2|GARD:0006481|MESH:C535645|UMLS:C0301928|ICD9:287.2|Orphanet:324636|SCTID:275446004 owl:Class NCBITaxon:10088 biolink:NamedThing Mus tmpaxzxjjyw_mondo_relaxed.owl Mus|mice|mouse GC_ID:1 ncbi_taxonomy owl:Class PATO:0001777 biolink:NamedThing decreased flexibility A flexibility which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl low flexibility owl:Class MONDO:0022775 biolink:NamedThing cleft lip and palate malrotation cardiopathy tmpaxzxjjyw_mondo_relaxed.owl GARD:0001371 https://rarediseases.info.nih.gov/diseases/1371/cleft-lip-and-palate-malrotation-cardiopathy owl:Class CHEBI:27314 biolink:NamedThing water-soluble vitamin tmpaxzxjjyw_mondo_relaxed.owl wasserloesliche Vitamine|water-soluble vitamins owl:Class MONDO:0001682 biolink:NamedThing diphtheritic peritonitis A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. tmpaxzxjjyw_mondo_relaxed.owl ICD10:A36.89|SCTID:13596001|DOID:13310|UMLS:C0152953|ICD9:032.83 owl:Class MONDO:0002921 biolink:NamedThing congenital structural myopathy A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills. tmpaxzxjjyw_mondo_relaxed.owl centronuclear myopathy UMLS:C0752282|MESH:D020914|DOID:422|NCIT:C84648 owl:Class MONDO:0015654 biolink:NamedThing idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN200064|Orphanet:166475 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: epilepsy MONDO_0005027 owl:Class MONDO:0012993 biolink:NamedThing dyschromatosis universalis hereditaria 2 tmpaxzxjjyw_mondo_relaxed.owl dyschromatosis universalis hereditaria 2|DUH2 UMLS:C2675183|OMIM:612715|Orphanet:241|MESH:C567194 owl:Class MONDO:0011063 biolink:NamedThing hidrotic ectodermal dysplasia, Christianson-Fourie type Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia. tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia, hidrotic, Christianson-Fourie type|Christianson-Fourie syndrome Orphanet:1808|ICD10:Q82.8|OMIM:601375|GARD:0002682|MESH:C536180|UMLS:C1832411 https://rarediseases.info.nih.gov/diseases/2682/ectodermal-dysplasia-hidrotic-christianson-fourie-type owl:Class MONDO:0015035 biolink:NamedThing lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type B (LCHb) is a form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of LCHb. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228901|UMLS:C4274993|ICD10:Q04.3|Orphanet:100012|SCTID:715819005 owl:Class MONDO:0020410 biolink:NamedThing aorto-right ventricular tunnel tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99070|ICD10:Q20.8 owl:Class GO:1900075 biolink:NamedThing positive regulation of neuromuscular synaptic transmission Any process that activates or increases the frequency, rate or extent of neuromuscular synaptic transmission. tmpaxzxjjyw_mondo_relaxed.owl activation of neuromuscular synaptic transmission|upregulation of neuromuscular synaptic transmission|up regulation of neuromuscular synaptic transmission|up-regulation of neuromuscular synaptic transmission owl:Class HGNC:430 biolink:NamedThing ALOX12B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022401 biolink:NamedThing agyria pachygyria polymicrogyria Cortical malformations characterized by no gyri, broad gyri and/or an excessive number of abnormally small gyri that result in an irregular cortical surface with lumpy aspect. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000572 https://rarediseases.info.nih.gov/diseases/572/agyria-pachygyria-polymicrogyria owl:Class UBERON:0005852 biolink:NamedThing thoracic spinal cord ventral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016551 biolink:NamedThing subdivision of spinal cord ventral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001183 biolink:NamedThing contact lens corneal edema tmpaxzxjjyw_mondo_relaxed.owl DOID:11034|SCTID:49362009|ICD9:371.24|UMLS:C0474442 owl:Class MONDO:0006712 biolink:NamedThing corneal edema Hazy, swollen cornea. tmpaxzxjjyw_mondo_relaxed.owl corneal oedema MedDRA:10011007|MESH:D015715|SCTID:27194006|UMLS:C0010037|NCIT:C50508|ICD9:371.20|EFO:1000879|DOID:11030|ICD10:H18.20|ICD9:371.2 owl:Class HGNC:7224 biolink:NamedThing MPV17 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024330 biolink:NamedThing infectious otitis media Inflammation of the anatomical structures of the middle ear secondary to an infectious process. Bacterial etiology is most common, but both viral and fungal pathogens are also possible. Symptoms include erythema and edema of the tympanic membrane, pain, and possibly fever. In severe infections, inflammation and edema of the structures of the middle ear can lead to perforation of the tympanic membrane secondary to the buildup of pressure in the narrow space. tmpaxzxjjyw_mondo_relaxed.owl AOM|acute otitis Media|otitis media|middle Ear infection|infectious otitis Media NCIT:C84354|UMLS:C0271429|UMLS:C2827407 owl:Class MONDO:0017521 biolink:NamedThing hyperphalangy, unilateral tmpaxzxjjyw_mondo_relaxed.owl hyperphalangy in digits 2-5|supernumerary phalanx, unilateral|supernumerary phalanges, unilateral ICD10:Q74.8|Orphanet:295140 owl:Class MONDO:0003296 biolink:NamedThing cellular leiomyoma A morphologic variant of classic leiomyoma characterized by a dense cellular infiltrate composed of spindle or round cells with scant cytoplasm and a less obvious interlacing fascicle pattern. tmpaxzxjjyw_mondo_relaxed.owl cellular leiomyoma (morphologic abnormality)|cellular leiomyoma ICDO:8892/0|UMLS:C0334477|DOID:5139|NCIT:C4256 owl:Class NCBITaxon:92251 biolink:NamedThing Trombiculidae tmpaxzxjjyw_mondo_relaxed.owl redbugs|chiggers|harvest mites GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013912 biolink:NamedThing hypogonadotropic hypogonadism 10 with or without anosmia Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the TAC3 gene. tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropic hypogonadism 10 with or without anosmia|hypogonadotropic hypogonadism caused by mutation in TAC3|TAC3 hypogonadotropic hypogonadism|HH10 OMIM:614839|DOID:0090089|UMLS:C3553843|ICD10:E23.0 owl:Class MONDO:0016666 biolink:NamedThing unexplained long-lasting fever/inflammatory syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:251332|UMLS:CN201905 https://github.com/monarch-initiative/mondo/issues/3570 owl:Class CL:0000155 biolink:NamedThing peptic cell A cell that is usually basal in position, cuboidal with round nucleus, short microvilli, secretes pepsinogen. tmpaxzxjjyw_mondo_relaxed.owl pepsinogen secreting cell|zymogenic cell|chief cell of stomach|gastric chief cell FMA:62902 cell owl:Class CHEBI:38234 biolink:NamedThing DNA polymerase inhibitor Any inhibitor of a DNA polymerase. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:76815 biolink:NamedThing EC 2.7.7.* (nucleotidyltransferase) inhibitor An EC 2.7.* (P-containing group transferase) inhibitor that interferes with the action of any nucleotidyltransferase (EC 2.7.7.*). tmpaxzxjjyw_mondo_relaxed.owl inhibitors of nucleotidyltransferases|EC 2.7.7.* (nucleotidyltransferase) inhibitors|nucleotidyltransferase inhibitors|inhibitors of nucleotidyltransferases (EC 2.7.7.*)|nucleotidyltransferase inhibitor|inhibitor of nucleotidyltransferases|nucleotidyltransferase (EC 2.7.7.*) inhibitors|inhibitor of nucleotidyltransferases (EC 2.7.7.*)|nucleotidyltransferase (EC 2.7.7.*) inhibitor owl:Class MONDO:0015755 biolink:NamedThing myopathy with hexagonally cross-linked tubular arrays Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G71.2|Orphanet:171889|SCTID:764994007 owl:Class UBERON:0003590 biolink:NamedThing main bronchus connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018247 biolink:NamedThing CADDS tmpaxzxjjyw_mondo_relaxed.owl CADDS|contiguous ABCD1 DXS1357E deletion syndrome|Zellweger-like contiguous gene deletion syndrome Orphanet:369942|ICD10:Q87.8|GARD:0012472|OMIM:300475|UMLS:CN180200 owl:Class MONDO:0032922 biolink:NamedThing Beck-Fahrner syndrome tmpaxzxjjyw_mondo_relaxed.owl BECK-FAHRNER SYNDROME|BEFAHRS OMIM:618798 owl:Class MONDO:0003310 biolink:NamedThing Monckeberg arteriosclerosis A type of arteriosclerosis in which calcification of the tunica media is the predominant feature. tmpaxzxjjyw_mondo_relaxed.owl Mönckeberg arteriosclerosis DOID:5161|NCIT:C35770|UMLS:C0887866 owl:Class CHEBI:64416 biolink:NamedThing EC 1.3.1.43 (arogenate dehydrogenase) inhibitor An EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor that interferes with the action of arogenate dehydrogenase (EC 1.3.1.43). tmpaxzxjjyw_mondo_relaxed.owl arogenate dehydrogenase (EC 1.3.1.43) inhibitors|cyclohexadienyl dehydrogenase inhibitor|TyrA(a) inhibitors|L-arogenate:NAD+ oxidoreductase inhibitor|L-arogenate:NAD+ oxidoreductase (decarboxylating) inhibitor|L-arogenate:NAD+ oxidoreductase inhibitors|L-arogenate:NAD(+) oxidoreductase (decarboxylating) inhibitors|L-arogenate:NAD(+) oxidoreductase (decarboxylating) inhibitor|cyclohexadienyl dehydrogenase inhibitors|L-arogenate:NAD+ oxidoreductase (decarboxylating) inhibitors|TyrA(a) inhibitor|arogenate dehydrogenase (EC 1.3.1.43) inhibitor|EC 1.3.1.43 (arogenate dehydrogenase) inhibitors|EC 1.3.1.43 inhibitor|arogenate dehydrogenase inhibitors|EC 1.3.1.43 inhibitors|arogenate dehydrogenase inhibitor owl:Class CHEBI:76857 biolink:NamedThing EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitor An EC 1.3.* (oxidoreductase acting on donor CH-CH group) inhibitor that interferes with the action of any such enzyme using NAD(+) or NADP(+) as acceptor (EC 1.3.1.*). tmpaxzxjjyw_mondo_relaxed.owl EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.3.1.* inhibitor|oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor (EC 1.3.1.*) inhibitor|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitors|oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor (EC 1.3.1.*) inhibitors|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor with NAD(+) or NADP(+) as acceptor) inhibitor|EC 1.3.1.* (oxidoreductase acting on donor CH-CH group, NAD(+) or NADP(+) as acceptor) inhibitors|EC 1.3.1.* inhibitors|EC 1.3.1.* (oxidoreductase acting on CH-CH group of donor, NAD(+) or NADP(+) as acceptor) inhibitor owl:Class MONDO:0008149 biolink:NamedThing osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures An osteogenesis imperfecta found in a single South African family. tmpaxzxjjyw_mondo_relaxed.owl osteogenesis imperfecta with opalescent teeth, blue sclerae and WORMIAN bones, but without fractures MESH:C563487|ICD10:Q78.0|DOID:0110335|Orphanet:216796|UMLS:C1833748|OMIM:166230 owl:Class MONDO:0022109 biolink:NamedThing catatrichy tmpaxzxjjyw_mondo_relaxed.owl forelock 2022-04-01 UMLS:C1861799|MESH:C535346|GARD:0010080 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none https://rarediseases.info.nih.gov/diseases/10080/catatrichy owl:Class MONDO:0012374 biolink:NamedThing brachyphalangy, polydactyly, and tibial aplasia/hypoplasia tmpaxzxjjyw_mondo_relaxed.owl brachyphalangy, polydactyly, and tibial aplasia/hypoplasia|brachyphalangy, polydactyly and absent tibiae OMIM:609945|GARD:0009893|MESH:C537100|UMLS:C1864965 https://rarediseases.info.nih.gov/diseases/9893/brachyphalangy-polydactyly-and-tibial-aplasiahypoplasia owl:Class MONDO:0022930 biolink:NamedThing Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia tmpaxzxjjyw_mondo_relaxed.owl Aughton sloan Milad syndrome MESH:C538340|UMLS:C2931823|GARD:0000137 https://rarediseases.info.nih.gov/diseases/137/dandy-walker-malformation-with-nasopharyngeal-teratoma-and-diaphragmatic-hernia owl:Class MONDO:0044622 biolink:NamedThing EMILIN-1-related connective tissue disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:485418 owl:Class MONDO:0013970 biolink:NamedThing branched-chain keto acid dehydrogenase kinase deficiency Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency is a rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. tmpaxzxjjyw_mondo_relaxed.owl branched-chain keto acid dehydrogenase kinase deficiency|Bckdk deficiency|BCKDK deficiency|BCKDKD|autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency|branched-chain KETO acid dehydrogenase KINASE deficiency UMLS:C3554078|DOID:0090126|Orphanet:308410|ICD10:E71.1|OMIM:614923 owl:Class MONDO:0003562 biolink:NamedThing rete testis neoplasm A benign or malignant neoplasm that affects the rete testis. Representative examples include adenoma and adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl rete testis tumor|rete testis neoplasm (disease)|rete testis neoplasm|neoplasm of rete testis|tumor of rete testis NCIT:C39955|DOID:5639|UMLS:C1514912 owl:Class MONDO:0006761 biolink:NamedThing fibromuscular dysplasia A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation. tmpaxzxjjyw_mondo_relaxed.owl fibromuscular dysplasia|FMDA|fibromuscular dysplasia of arteries OMIM:135580|MESH:D005352|EFO:1000938|MESH:C537929|Orphanet:336|UMLS:C1851111|MedDRA:10054794|NCIT:C84714 owl:Class MONDO:0005523 biolink:NamedThing steroid inherited metabolic disorder Errors in metabolic processing of steroids resulting from inborn genetic mutations that are inherited or acquired in utero. tmpaxzxjjyw_mondo_relaxed.owl EFO:0005590|UMLS:C1257809|MESH:D043202|DOID:1701 owl:Class MONDO:0019881 biolink:NamedThing distal trisomy 6q Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported. tmpaxzxjjyw_mondo_relaxed.owl distal duplication 6q|trisomy 6qter|telomeric duplication 6q|distal trisomy type 6q Orphanet:96098|MESH:C537810|ICD10:Q92.3|SCTID:763275001 owl:Class MONDO:0016957 biolink:NamedThing partial duplication of the long arm of chromosome 6 Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 6q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Rarely, it is inherited from a parent with the same duplication. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl partial trisomy of chromosome 6q|Duplication 6q|partial duplication of chromosome 6q|chromosome 6q duplication|partial trisomy 6q|partial duplication of the long arm of chromosome type 6|6q trisomy|6q duplication|trisomy 6q|partial trisomy of the long arm of chromosome 6 GARD:0005353|Orphanet:262878|MESH:C537812 owl:Class HGNC:30935 biolink:NamedThing YY1AP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001032 biolink:NamedThing Mooren ulcer tmpaxzxjjyw_mondo_relaxed.owl Mooren's ulcer UMLS:C0155072|ICD10:H16.05|Orphanet:519408|SCTID:22440001|DOID:10439|ICD9:370.07 owl:Class MONDO:0054700 biolink:NamedThing proteasome-associated autoinflammatory syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl PRAAS2|proteasome-associated autoinflammatory syndrome 2 OMIM:618048|UMLS:CN252342 owl:Class MONDO:0001060 biolink:NamedThing microinvasive gastric cancer An invasive adenocarcinoma confined to the mucosa or mucosa and submucosa of the gastric wall. The regional lymph nodes may or may not be involved. It usually occurs in the lesser curvature. The 5-year survival rate following resection is between 80 percent and 95 percent, and remains high even when lymph node metastases are present. tmpaxzxjjyw_mondo_relaxed.owl superficial gastric cancer|surface gastric cancer|early gastric cancer|EGC|superficial spreading gastric cancer NCIT:C27131|SCTID:276809004|DOID:10541|UMLS:C0349530 owl:Class HGNC:23406 biolink:NamedThing DOLK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007919 biolink:NamedThing lymphatic malformation 1 Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene. tmpaxzxjjyw_mondo_relaxed.owl FLT4 hereditary lymphedema|Nonne-Milroy syndrome|congenital primary lymphedema|hereditary lymphedema type I|early onset lymphedema|hereditary lymphedema caused by mutation in FLT4|Nonne’s syndrome|lymphedema, early-onset|Nonne-Milroy disease|Milroy disease|Nonne-Milroy lymphedema|lymphedema, hereditary, 1A|lymphedema, hereditary, type 1A|LMPH1A|congenital hereditary lymphedema|primary congenital lymphedema|hereditary lymphedema 1 GARD:0007220|OMIM:153100|SCTID:399889006|Orphanet:79452|DOID:0070210 https://github.com/monarch-initiative/mondo/issues/2768 owl:Class CL:1001320 biolink:NamedThing urethra cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001123 cell owl:Class MONDO:0010775 biolink:NamedThing retinitis pigmentosa-deafness syndrome An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has material basis in mutation in the MTTS2 gene in the mitochondrial genome. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 8|RP21, formerly|retinitis pigmentosa 21, formerly|RP8, formerly|retinitis pigmentosa 8, formerly|retinitis pigmentosa 21|retinitis pigmentosa-deafness syndrome Orphanet:231183|ICD10:H35.5|UMLS:CN033130|SCTID:57838006|Orphanet:886|UMLS:C0271097|GARD:0004684|UMLS:C1568248|OMIM:500004|DOID:0110829 Editor note: check relationship to Usher 3 from ORDO https://github.com/monarch-initiative/mondo/issues/551 owl:Class MONDO:0002298 biolink:NamedThing cutaneous glomangioma A glomus tumor arising from the skin. It is characterized by the presence of dilated veins surrounded by glomus cells. tmpaxzxjjyw_mondo_relaxed.owl glomangioma of skin|glomangioma of the skin|cutaneous glomangioma|zone of skin glomangioma|skin glomangioma UMLS:C1275226|DOID:2435|SCTID:403970001|NCIT:C6750 owl:Class MONDO:0002295 biolink:NamedThing skin glomus tumor A glomus tumor arising from the skin. It usually presents as a small red-blue nodule and it often associated with pain at the site. tmpaxzxjjyw_mondo_relaxed.owl glomus neoplasm of skin|skin glomus neoplasm|glomus tumor of the skin|zone of skin glomus tumor|glomus neoplasm of the skin|glomus skin neoplasm|glomus tumor of skin|glomus skin tumor DOID:2430|UMLS:C0346083|SCTID:254795008|NCIT:C4491 owl:Class MONDO:0015524 biolink:NamedThing hyperplastic polyposis syndrome Hyperplastic polyposis syndrome is a rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer. tmpaxzxjjyw_mondo_relaxed.owl serrated polyposis UMLS:CN199665|Orphanet:157798|NCIT:C165469|OMIM:617108|SCTID:763536006|OMIM:175020|ICD10:D12.6 owl:Class MONDO:0011166 biolink:NamedThing lymphedema-atrial septal defects-facial changes syndrome Lymphedema-atrial septal defects-facial changes syndrome is characterised by congenital lymphoedema of the lower limbs, atrial septal defect and a characteristic facies (a round face with a prominent forehead, a flat nasal bridge with a broad nasal tip, epicanthal folds, a thin upper lip and a cleft chin). It has been described in two brothers and a sister. Transmission appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes|lymphedema, atrial septal defect, and characteristic facial changes|Irons-Bianchi syndrome|lymphedema, atrial septal defect, and characteristic facies|lymphedema, CARDIAC septal defects, and characteristic facies|Irons-Bhan syndrome|Irons Bhan syndrome ICD10:Q87.8|SCTID:721978002|MESH:C567398|OMIM:601927|GARD:0000284|MESH:C535539|Orphanet:86915 https://rarediseases.info.nih.gov/diseases/284/irons-bhan-syndrome owl:Class MONDO:0021179 biolink:NamedThing proteostasis deficiencies Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins. tmpaxzxjjyw_mondo_relaxed.owl proteopathy|Protein Misfolding disorders|folding disorders, Protein|Protein folding disease|dysfunction, Proteostasis|diseases, Protein folding|disorder, Protein Misfolding|disease, Protein folding|folding diseases, Protein|Protein folding diseases|Proteostasis dysfunctions|disease, Protein Misfolding|Protein Misfolding diseases|Protein folding disorders|Misfolding disease, Protein|folding disorder, Protein|disorders, Protein Misfolding|Protein Misfolding disorder|Misfolding disorders, Protein|Misfolding diseases, Protein|proteopathic disease|dysfunctions, Proteostasis|deficiencies, Proteostasis|deficiency, Proteostasis|Protein folding disorder|Misfolding disorder, Protein|disorders, Protein folding|proteinopathy|Proteostasis deficiency|folding disease, Protein|disorder, Protein folding|diseases, Protein Misfolding|Proteostasis dysfunction|Protein Misfolding disease UMLS:C2718001|MESH:D057165 owl:Class HGNC:3179 biolink:NamedThing EDNRA tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:27337 biolink:NamedThing ANO5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020505 biolink:NamedThing ravine syndrome Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies. tmpaxzxjjyw_mondo_relaxed.owl progressive encephalopathy with severe infantile anorexia|Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome UMLS:C4275006|UMLS:CN207401|SCTID:715794009|ICD10:E75.2|Orphanet:99852 owl:Class MONDO:0100063 biolink:NamedThing Pericytoma with t(7;12) A rare soft tissue neoplasm that displays a perivascular pattern of spindle-to-ovoid cell proliferation. tmpaxzxjjyw_mondo_relaxed.owl Pericytoma t(7;12) 2018-11-09 22:50:48+00:00 owl:Class MONDO:0044300 biolink:NamedThing familial adenomatous polyposis 4 Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by {1:Adam et al., 2016}).nnFor a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (OMIM:175100). tmpaxzxjjyw_mondo_relaxed.owl familial adenomatous polyposis type 4|FAP4|familial adenomatous polyposis 4 DOID:0080412|OMIM:617100 MONDO:0014913 owl:Class GO:0010906 biolink:NamedThing regulation of glucose metabolic process Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. tmpaxzxjjyw_mondo_relaxed.owl regulation of glucose metabolism owl:Class NCBITaxon:578835 biolink:NamedThing Rhipicephalus sanguineus group tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003691 biolink:NamedThing childhood malignant mesenchymoma A malignant mesenchymoma occurring in children. tmpaxzxjjyw_mondo_relaxed.owl malignant mesenchymoma of childhood|malignant mesenchymoma|childhood malignant mesenchymoma|pediatric malignant mesenchymoma DOID:5893|UMLS:C0279991|NCIT:C8097 owl:Class UBERON:0015918 biolink:NamedThing deep lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009757 biolink:NamedThing Niemann-Pick disease, type C1 Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein. tmpaxzxjjyw_mondo_relaxed.owl Niemann-Pick disease, subacute juvenile form|Niemann-Pick disease, type C1|Niemann-Pick disease with cholesterol esterification block|type C1 Niemann-Pick disease|Niemann-Pick disease, type D|NPC1|Niemann-Pick disease, chronic neuronopathic form|Niemann-Pick disease without sphingomyelinase deficiency|Niemann-PICK disease, type C1|Niemann-Pick disease type C1|Niemann-Pick disease, nova Scotian type|Niemann-Pick disease, type C|neurovisceral storage disease with vertical supranuclear ophthalmoplegia SCTID:18927009|UMLS:C3179455|Orphanet:646|OMIM:257220|DOID:0070113|GARD:0007207|NCIT:C126864|ICD10:E75.2 owl:Class MONDO:0002555 biolink:NamedThing trigeminal schwannoma A schwannoma that involves the trigeminal nerve. tmpaxzxjjyw_mondo_relaxed.owl schwannoma of the fifth cranial nerve|fifth cranial nerve schwannoma|neurilemmoma of the fifth cranial nerve|trigeminal neurilemmoma|trigeminal schwannoma|schwannoma of trigeminal nerve|fifth cranial nerve neurilemmoma|neurilemmoma of trigeminal nerve|neurilemmoma of fifth cranial nerve|schwannoma of fifth cranial nerve|neurilemmoma of the trigeminal nerve|schwannoma of the trigeminal nerve|trigeminal nerve schwannoma UMLS:C0349582|ICD9:215.9|DOID:3202|NCIT:C4655|SCTID:277185000 owl:Class MONDO:0016549 biolink:NamedThing primary megaureter, adult-onset form tmpaxzxjjyw_mondo_relaxed.owl Orphanet:238642|UMLS:CN201632|ICD10:Q62.2 owl:Class MONDO:0015604 biolink:NamedThing middle ear anomaly tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10060957|ICD10:Q16.4|ICD10:Q16.3|Orphanet:164004 owl:Class MONDO:0013919 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 12 tmpaxzxjjyw_mondo_relaxed.owl EIG12|epilepsy, idiopathic generalized, susceptibility to, 12|epilepsy, idiopathic generalized, susceptibility to, type 12|susceptibility to idiopathic generalized epilepsy 12 DOID:0111313|OMIM:614847 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class MONDO:0006620 biolink:NamedThing vulva fibroepithelial polyp A polypoid lesion that arises from the vulva and is characterized by the presence of fibrovascular stroma lined by squamous epithelium. There is no evidence of epithelial atypia. tmpaxzxjjyw_mondo_relaxed.owl vulval fibroepithelial polyp|fibroepithelial polyp of the vulva|skin tag of mammalian vulva|mammalian vulva skin tag|vulvar fibroepithelial stromal polyp|fibroepithelial polyp of vulva|vulvar fibroepithelial polyp NCIT:C6857|UMLS:C1336978|EFO:1000777|DOID:8255 owl:Class MONDO:0010965 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 6 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 6|deafness, autosomal recessive 6|neurosensory nonsyndromic recessive deafness 6|autosomal recessive nonsyndromic deafness caused by mutation in TMIE|deafness, autosomal recessive type 6|autosomal recessive deafness 6|autosomal recessive nonsyndromic deafness 6|TMIE autosomal recessive nonsyndromic deafness|DFNB6 DOID:0110512|OMIM:600971|UMLS:C1832992|MESH:C563418|ICD10:H90.3 owl:Class MONDO:0003388 biolink:NamedThing ampulla of vater clear cell adenocarcinoma A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of glycogen-rich cells with hyperchromatic nuclei. tmpaxzxjjyw_mondo_relaxed.owl hepatopancreatic ampulla clear cell adenocarcinoma|ampulla of Vater clear cell adenocarcinoma NCIT:C27414|DOID:5308|UMLS:C1332246 owl:Class UBERON:0010522 biolink:NamedThing replacement element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010329 biolink:NamedThing intellectual disability, X-linked 77 tmpaxzxjjyw_mondo_relaxed.owl MRX77|mental retardation, X-linked 77|intellectual disability, X-linked 77 OMIM:300454|UMLS:C1845499|MESH:C564511 owl:Class MONDO:0000457 biolink:NamedThing classical glioblastoma A molecular subtype of glioblastoma characterized by lack of p53 mutations, chromosome 7 amplifications or deletions, and high levels of EGFR amplification. tmpaxzxjjyw_mondo_relaxed.owl glioblastoma classical subtype|classical glioblastoma NCIT:C111694|UMLS:C3827253|DOID:0050803 owl:Class MONDO:0024277 biolink:NamedThing neonatal thrombocytopenia tmpaxzxjjyw_mondo_relaxed.owl neonatal thrombocytopenia|neonatal purpura|purpura of newborn SCTID:82835005|MESH:D054098 owl:Class MONDO:0001490 biolink:NamedThing corneal granular dystrophy A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene. tmpaxzxjjyw_mondo_relaxed.owl granular corneal dystrophy DOID:12318|ICD9:371.53|NCIT:C34651|SCTID:45283008|UMLS:C0018179|MESH:D003317|ICD10:H18.53 owl:Class MONDO:0017974 biolink:NamedThing 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors tmpaxzxjjyw_mondo_relaxed.owl 46,XY DSD induced by maternal-exposure to endocrine disruptors Orphanet:325537|UMLS:CN227235 owl:Class UBERON:0002810 biolink:NamedThing right frontal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033115 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 25 tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 25|SCAR25|autosomal recessive spinocerebellar ataxia 25 UMLS:CN349871|DOID:0080259|OMIM:617584 owl:Class MONDO:0010871 biolink:NamedThing succinic acidemia tmpaxzxjjyw_mondo_relaxed.owl succinic acidemia MESH:C563952|Orphanet:936|UMLS:C1838243|OMIM:600335 owl:Class CL:0000322 biolink:NamedThing pneumocyte An epithelial cell that lines the peripheral gas exchange region of the lungs of air-breathing vertebrates. tmpaxzxjjyw_mondo_relaxed.owl pneumonocyte|alveolar epithelial cell FMA:62499|BTO:0000395|CALOHA:TS-2168 cell owl:Class MONDO:0054765 biolink:NamedThing amyloidosis, primary localized cutaneous, 3 tmpaxzxjjyw_mondo_relaxed.owl amyloidosis, PRIMARY LOCALIZED cutaneous, 3|PLCA3|amyloidosis cutis dyschromica OMIM:617920 owl:Class GO:0042611 biolink:NamedThing MHC protein complex A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004723 biolink:NamedThing liver leiomyoma A benign smooth muscle neoplasm arising from the liver. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of liver|hepatic leiomyoma|liver leiomyoma|leiomyoma of the liver NCIT:C5753|UMLS:C1333968|DOID:917 owl:Class MONDO:0018137 biolink:NamedThing temperature-sensitive oculocutaneous albinism type 1 Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas). tmpaxzxjjyw_mondo_relaxed.owl TS OCA type 1|OCA1-TS OMIM:606952|UMLS:C1847132|ICD10:E70.3|Orphanet:352737 owl:Class MONDO:0025556 biolink:NamedThing isocyanate induced asthma tmpaxzxjjyw_mondo_relaxed.owl isocyanates allergic asthma UMLS:C1321273|ICD9:506.3|SCTID:404808000|DOID:0040041 owl:Class MONDO:0023272 biolink:NamedThing goniodysgenesis intellectual disability short stature tmpaxzxjjyw_mondo_relaxed.owl GARD:0002545 https://rarediseases.info.nih.gov/diseases/2545/goniodysgenesis-mental-retardation-short-stature owl:Class MONDO:0014634 biolink:NamedThing 46,XY sex reversal 10 tmpaxzxjjyw_mondo_relaxed.owl SRXY10|46,XY Sex reversal type 10|46,XY SEX reversal 10|chromosome 17Q24 deletion syndrome|46,XY sex reversal 10 OMIM:616425|DOID:0111775|Orphanet:242|UMLS:C4225331|Orphanet:251510 owl:Class MONDO:0001964 biolink:NamedThing chronic tubotympanic suppurative otitis media A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. tmpaxzxjjyw_mondo_relaxed.owl ICD10:H66.10|UMLS:C0155440|ICD10:H66.1|DOID:14435|ICD9:382.1|SCTID:87665008 owl:Class MONDO:0007723 biolink:NamedThing Hirschsprung disease, susceptibility to, 1 Any Hirschsprung disease in which the cause of the disease is a mutation in the RET gene. tmpaxzxjjyw_mondo_relaxed.owl HSCR1|RET Hirschsprung disease|Hirschsprung disease, susceptibility to, type 1|Hirschsprung disease|Hirschsprung disease, susceptibility to, 1|Hirschsprung disease, protection against|megacolon, aganglionic|susceptibility to Hirschsprung disease 1|Hirschsprung disease caused by mutation in RET|aganglionic megacolon UMLS:C2931876|Orphanet:388|OMIM:142623 owl:Class MONDO:0012406 biolink:NamedThing hyperparathyroidism 3 tmpaxzxjjyw_mondo_relaxed.owl hyperparathyroidism, familial isolated|HRPT3|hyperparathyroidism 3 MESH:C566450|Orphanet:99879|UMLS:C1864729|OMIM:610071 owl:Class MONDO:0013441 biolink:NamedThing asphyxiating thoracic dystrophy 4 An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. tmpaxzxjjyw_mondo_relaxed.owl ATD4|SRTD4|short-rib thoracic dysplasia 4 with or without polydactyly|asphyxiating thoracic dystrophy 4|asphyxiating thoracic dystrophy type 4 DOID:0110088|Orphanet:474|ICD10:Q77.2|OMIM:613819|UMLS:C3151185 owl:Class MONDO:0019972 biolink:NamedThing dural sinus malformation tmpaxzxjjyw_mondo_relaxed.owl cranial dural arteriovenous fistula|cranial dural arteriovenous malformations ICD10:Q28.3|Orphanet:97339 owl:Class MONDO:0012233 biolink:NamedThing Li-Fraumeni syndrome 2 Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene. tmpaxzxjjyw_mondo_relaxed.owl LFS2|Li-Fraumeni syndrome type 2|Li-Fraumeni syndrome 2|CHEK2 Li-Fraumeni syndrome|Li-Fraumeni syndrome caused by mutation in CHEK2 Orphanet:524|OMIM:609265|MESH:C563755|DOID:0111504|UMLS:C1836482 owl:Class UBERON:0013162 biolink:NamedThing right lateral ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019563 biolink:NamedThing CREST syndrome CREST syndrome is a subtype of limited cutaneous systemic sclerosis (lcSSc) whose name is an acronym for the cardinal clinical features of the syndrome: calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia. tmpaxzxjjyw_mondo_relaxed.owl calcinosis, Raynaud's phenomenon, esophageal dismobility, sclerodactyly, telangiectasia syndrome|calcinosis-Raynaud phenomenon-sclerodactyly-telangiectasia|calcinosis Raynaud phenomenon sclerodactyly telangiectasia|calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome|calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia|phenomenon-sclerodactyly-telangiectasia, calcinosis-Raynaud|syndrome, CREST|CRST syndrome|CRST syndromes|limited cutaneous Systemic Scleroderma|limited cutaneous Systemic sclerosis|lcSSc OMIM:181750|MedDRA:10011380|MESH:D017675|SCTID:31848007|NCIT:C70646|GARD:0012430|Orphanet:90290|ICD10:M34.1|UMLS:C0206138|DOID:0060218 owl:Class MONDO:0006255 biolink:NamedThing intimal sarcoma A malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor. tmpaxzxjjyw_mondo_relaxed.owl INTS EFO:1000305|NCIT:C53677|UMLS:C1708550|ONCOTREE:INTS owl:Class MONDO:0021101 biolink:NamedThing appendix L-cell glucagon-like peptide-producing neuroendocrine tumor A neuroendocrine tumor arising from the wall of the appendix, producing glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. tmpaxzxjjyw_mondo_relaxed.owl malignant appendiceal L-cell glucagon-like peptide producing tumor|appendiceal L-cell glucagon-like peptide-producing neuroendocrine tumor|vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor|appendiceal L-cell glucagon-like peptide producing tumor|appendix L-cell glucagon-like peptide-producing neuroendocrine tumor|appendix L-cell NET|appendix L-cell glucagon-like peptide-producing NET|appendiceal L-cell glucagon-like peptide-producing NET|malignant appendiceal glucagonoma|L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix NCIT:C27445|UMLS:C3274138|DOID:8151 owl:Class MONDO:0004210 biolink:NamedThing colonic L-cell glucagon-like peptide producing tumor A neuroendocrine tumor that arises from the colon and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. tmpaxzxjjyw_mondo_relaxed.owl colon L-cell glucagon-like peptide-producing neuroendocrine tumor|colon L-cell glucagon-like peptide-producing NET|L-cell glucagon-like peptide-producing neuroendocrine tumor of colon|colonic L-cell glucagon-like peptide-producing neuroendocrine tumor UMLS:C3274139|DOID:7401|NCIT:C27447 owl:Class MONDO:0011048 biolink:NamedThing epilepsy-microcephaly-skeletal dysplasia syndrome Epilepsy-microcephaly-skeletal dysplasia syndrome is characterized by the association of moderate to severe intellectual deficit, microcephaly, epilepsy, coarse face, hirsutism and skeletal abnormalities (scoliosis and retarded bone development). It has been described only once, in two sibs (one male and one female). This syndrome is likely to be an autosomal recessive condition and thus parents should be informed of a 25% risk of recurrence for other children. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, microcephaly, epilepsy, and coarse face|epilepsy - microcephaly - skeletal dysplasia|intellectual disability, microcephaly, epilepsy, and coarse face|Battaglia-Neri syndrome OMIM:601352|GARD:0000836|Orphanet:1948|ICD10:Q87.8 owl:Class MONDO:0004371 biolink:NamedThing spinal multifocal clear cell meningioma A clear cell meningioma arising in multiple areas of the spinal cord characterized by the presence of clear glycogen-rich polygonal cells. tmpaxzxjjyw_mondo_relaxed.owl multifocal clear cell meningioma of the spine|spinal multifocal clear cell meningioma|multifocal clear cell meningioma of spine UMLS:C1336051|DOID:7824|NCIT:C5287 owl:Class MONDO:0019888 biolink:NamedThing distal trisomy 20q Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. tmpaxzxjjyw_mondo_relaxed.owl distal trisomy type 20q|trisomy 20qter|distal duplication 20q|telomeric duplication 20q Orphanet:96107|ICD10:Q92.3|SCTID:764500002 owl:Class HP:0004905 biolink:NamedThing Low levels of vitamin A A reduced concentration of vitamin A. tmpaxzxjjyw_mondo_relaxed.owl Vitamin A deficiency SNOMEDCT_US:72000004|UMLS:C0042842|MSH:D014802 human_phenotype owl:Class HP:0008372 biolink:NamedThing Abnormality of vitamin A metabolism tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4024686 peter 2008-04-04T12:29:00Z human_phenotype owl:Class MONDO:0010608 biolink:NamedThing Hhhh syndrome tmpaxzxjjyw_mondo_relaxed.owl Hhhh syndrome|hereditary Hemihypotrophy hemiparesis hemiathetosis syndrome MESH:C564411|OMIM:306960|UMLS:C1844019 owl:Class MONDO:0011747 biolink:NamedThing dyslexia, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl dyslexia, susceptibility to, 5|DYX5 OMIM:606896 owl:Class MONDO:0008878 biolink:NamedThing bone dysplasia, lethal Holmgren type Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type|bone dysplasia lethal Holmgren type|bone dysplasia, lethal, Holmgren type UMLS:C1859407|GARD:0000922|OMIM:211120|ICD10:Q77.8|Orphanet:1842|MESH:C565896|SCTID:732249002 https://rarediseases.info.nih.gov/diseases/922/bone-dysplasia-lethal-holmgren-type owl:Class MONDO:0016255 biolink:NamedThing uterine corpus mixed epithelial and mesenchymal neoplasm A primary, benign or malignant neoplasm of the uterine corpus characterized by the presence of an epithelial and a mesenchymal component. Representative examples include adenomyoma, adenosarcoma, and carcinosarcoma. tmpaxzxjjyw_mondo_relaxed.owl uterine corpus mixed epithelial and mesenchymal neoplasm|malignant mixed epithelial and mesenchymal tumor of corpus uteri|mixed epithelial and mesenchymal cancer of corpus uteri|body of uterus mixed neoplasm|uterine corpus mixed epithelial and mesenchymal tumor ICD10:C54.1|NCIT:C40181|Orphanet:213589|ICD10:C54.2|ICD10:C54.8|ICD10:C54.0|UMLS:C1519858|ICD10:C54.3 Editor note: Consider placing Orphanet equiv with subclass (malignant form) owl:Class MONDO:0024301 biolink:NamedThing acquired mineral metabolism disease An instance of mineral metabolism disease that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired mineral metabolism disease|mineral metabolism disease DOID:0050032 owl:Class MONDO:0033552 biolink:NamedThing blood group, lewis system tmpaxzxjjyw_mondo_relaxed.owl Lewis Blood Group System|Lewis-Negative Phenotype|LE|BLOOD GROUP, LEWIS SYSTEM 2022-04-01 OMIM:618983 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class CL:2000091 biolink:NamedThing endometrial microvascular endothelial cells Any microvascular endothelial cell that is part of a endometrial blood vessel. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2015-03-31T21:02:36Z cell owl:Class MONDO:0012630 biolink:NamedThing Alzheimer disease 13 An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer disease 13|Alzheimer's disease 13|AD13|Alzheimer's disease type 13 Orphanet:1020|DOID:0110046|OMIM:611152|ICD10:G30|UMLS:C1970147|MESH:C567000 owl:Class MONDO:0004754 biolink:NamedThing rectal prolapse Protrusion of the rectum through the anus. tmpaxzxjjyw_mondo_relaxed.owl rectal prolapse (disease)|procidentia, rectum|rectal prolapse rectal prolapse (disease) ICD10:K62.3|NCIT:C34973|UMLS:C0034888|HP:0002035|DOID:9307|ICD9:569.1 owl:Class CL:1000491 biolink:NamedThing mesothelial cell of pleura A mesothelial cell that is part of the pleura. tmpaxzxjjyw_mondo_relaxed.owl pleural mesothelial cell FMA:86737 cell owl:Class MONDO:0023575 biolink:NamedThing Krauss Herman Holmes syndrome tmpaxzxjjyw_mondo_relaxed.owl telecanthus, hypertelorism, strabismus, and pes cavus syndrome GARD:0003143|UMLS:C2931549|MESH:C537618 https://rarediseases.info.nih.gov/diseases/3143/krauss-herman-holmes-syndrome owl:Class UBERON:0010424 biolink:NamedThing distal segment of rib tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011220 biolink:NamedThing Prominent forehead Forward prominence of the entire forehead, due to protrusion of the frontal bone. tmpaxzxjjyw_mondo_relaxed.owl Prominent forehead|Protruding forehead|Prominence of frontal region|Pronounced forehead|Bulging forehead UMLS:C1867446|UMLS:C1837260 Not to be confused with frontal bossing. peter 2011-12-07T09:49:36Z HP:0200061 human_phenotype owl:Class MONDO:0026763 biolink:NamedThing holoprosencephaly 13, X-linked tmpaxzxjjyw_mondo_relaxed.owl HOLOPROSENCEPHALY 13, X-LINKED|HPE13 OMIM:301043 owl:Class MONDO:0003736 biolink:NamedThing cancerophobia An overwhelming, irrational, and persistent fear of being diagnosed with cancer. tmpaxzxjjyw_mondo_relaxed.owl fear of getting cancer (finding)|cancer phobia|Cancerphobia|fear of getting cancer EFO:1001879|NCIT:C35492|DOID:602 owl:Class NCIT:C18264 biolink:NamedThing Pathogenesis tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C16956 biolink:NamedThing Pathologic Process tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007332 biolink:NamedThing split-hand/foot malformation with long bone deficiency 1 tmpaxzxjjyw_mondo_relaxed.owl split-hand/foot malformation with long bone deficiency|ectrodactyly with aplasia of long bones|aplasia of tibia with ectrodactyly|SHFLD|tibial aplasia with split-hand/split-foot deformity|cleft hand absent tibia|split-hand/foot malformation with long bone deficiency 1|tibial aplasia with split-hand-split-foot deformity|SHFLD1|split-hand-foot malformation with long bone deficiency|cleft hand and absent tibia Orphanet:3329|OMIM:119100|MESH:C536425 owl:Class NCBITaxon:43987 biolink:NamedThing Geotrichum tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002240 biolink:NamedThing acute perichondritis of pinna Acute form of perichondritis of auricle. tmpaxzxjjyw_mondo_relaxed.owl perichondritis of auricle, acute|acute perichondritis of auricle ICD9:380.01|DOID:221|UMLS:C0155390|SCTID:45855004 owl:Class UBERON:0011589 biolink:NamedThing non-mineralized cartilage tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2956 biolink:NamedThing DNASE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018147 biolink:NamedThing idiopathic macular telangiectasia type 3 Idiopathic macular telangiectasia type 3 is a rare, acquired, eye disease characterized by progressive visual loss, due to bilateral juxtafoveolar capillary occlusions, capillary telangiectasia, and minimal exudation. It is associated with systemic or cerebral vascular occlusive disease. tmpaxzxjjyw_mondo_relaxed.owl occlusive idiopathic juxtafoveolar retinal telangiectasis UMLS:CN204545|ICD10:H35.5|Orphanet:353351 owl:Class MONDO:0002222 biolink:NamedThing urethra leiomyoma A benign smooth muscle neoplasm arising from the urethra. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl urethral leiomyoma|leiomyoma of the urethra|urethra leiomyoma|leiomyoma of urethra NCIT:C6171|DOID:2142|UMLS:C1336888 owl:Class MONDO:0003450 biolink:NamedThing eccrine papillary adenoma A benign neoplasm arising from the sweat glands. It is characterized by the presence of eccrine ducts in the dermis containing intraluminal papillary projections. tmpaxzxjjyw_mondo_relaxed.owl eccrine papillary adenoma of skin|Papillary eccrine adenoma DOID:5446|UMLS:C0334350|ICDO:8408/0|SCTID:253021007|NCIT:C4173|GARD:0010463 https://rarediseases.info.nih.gov/diseases/10463/papillary-eccrine-adenoma owl:Class MONDO:0003086 biolink:NamedThing thymic mucoepidermoid carcinoma A rare primary thymic carcinoma, characterized by the presence of squamous cells, intermediate type cells, and mucus-producing cells. Published information on clinical course is limited to single-case reports. tmpaxzxjjyw_mondo_relaxed.owl thymus mucoepidermoid carcinoma|Thymus mucoepidermoid carcinoma|mucoepidermoid carcinoma of the Thymus|mucoepidermoid carcinoma of Thymus|thymic mucoepidermoid carcinoma NCIT:C6457|UMLS:C1334814|DOID:4678 owl:Class MONDO:0044625 biolink:NamedThing autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation tmpaxzxjjyw_mondo_relaxed.owl CMT2 due to DGAT2 mutation Orphanet:487814 owl:Class MONDO:0004620 biolink:NamedThing Hodgkin's lymphoma, lymphocytic depletion A diffuse subtype of classical Hodgkin lymphoma which is rich in Hodgkin and Reed-Sternberg cells and/or depleted in non-neoplastic lymphocytes. (WHO, 2008) tmpaxzxjjyw_mondo_relaxed.owl adult lymphocyte depleted Hodgkin lymphoma|adult lymphocyte-depleted classical Hodgkin lymphoma|Hodgkin lymphoma, lymphocyte depletion|Hodgkin's disease, lymphocytic depletion, unspecified site, extranodal and solid organ sites|Hodgkin's disease, lymphocytic depletion NOS (morphologic abnormality)|adult HDLD|adult LDHD|Hodgkin's lymphocytic depletion of unspecified site|adult lymphocyte depletion Hodgkin's disease|classic Hodgkin lymphoma, lymphocyte-depleted type|Hodgkin's disease, lymphocytic depletion|adult lymphocyte depleted Hodgkin's lymphoma|adult lymphocyte depleted classical Hodgkin lymphoma|Adult lymphocyte-depleted Classic Hodgkin lymphoma|lymphocyte-depleted classical Hodgkin lymphoma ICD10:C81.3|Orphanet:98846|MESH:D006689|NCIT:C9125|SCTID:118610003|DOID:8628|ONCOTREE:LDCHL|ICD9:201.7 owl:Class HGNC:9864 biolink:NamedThing RARA tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002527 biolink:NamedThing pancreatic lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004558 biolink:NamedThing thyroid gland macrofollicular adenoma A thyroid gland adenoma composed of large size follicles. tmpaxzxjjyw_mondo_relaxed.owl macrofollicular adenoma|macrofollicular adenoma (morphologic abnormality)|colloid adenoma UMLS:C0334329|NCIT:C4161|DOID:8419|ICDO:8334/0 owl:Class MONDO:0012451 biolink:NamedThing esophagitis, eosinophilic, 1 tmpaxzxjjyw_mondo_relaxed.owl EOE1|esophagitis, eosinophilic, 1|esophagitis, eosinophilic Orphanet:73247|OMIM:610247|UMLS:C0341106 owl:Class MONDO:0010650 biolink:NamedThing Melnick-Needles syndrome Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems. tmpaxzxjjyw_mondo_relaxed.owl MNS|Melnick-Needles osteodysplasty|MELNICK-NEEDLES syndrome|Melnick-Needles syndrome|osteodysplasty of Melnick and Needles ICD10:Q77.8|ICD9:756.59|Orphanet:2484|SCTID:13449007|DOID:0111788|UMLS:C0025237|MedDRA:10060908|GARD:0007011|OMIM:309350 https://rarediseases.info.nih.gov/diseases/7011/melnick-needles-syndrome owl:Class OBO:CHR_9606-chr17q12 biolink:NamedThing 17q12 (Human) tmpaxzxjjyw_mondo_relaxed.owl 39800000 33500000 hg38 owl:Class MONDO:0006134 biolink:NamedThing cervical adenosquamous carcinoma An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl adenosquamous cell carcinoma of the cervix uteri|adenosquamous cell carcinoma of the cervix|adenosquamous cell carcinoma of the uterine cervix|cervix adenosquamous cell carcinoma|cervix uteri adenosquamous cell carcinoma|uterine cervix adenosquamous cell carcinoma|adenosquamous cell carcinoma of cervix|adenosquamous cell carcinoma of uterine cervix|adenosquamous cell carcinoma of cervix uteri|cervical adenosquamous cell carcinoma|cervical adenosquamous cancer|cervical adenosquamous carcinoma|adenosquamous carcinoma of cervix NCIT:C4519|SCTID:254888007|DOID:5636|EFO:1000162|ONCOTREE:CEAS|UMLS:C0346202 owl:Class MONDO:0004376 biolink:NamedThing infiltrating nipple syringomatous adenoma An invasive, non-metastasizing neoplasm with sweat duct differentiation that arises in the area of the nipple. Local recurrences have been reported. tmpaxzxjjyw_mondo_relaxed.owl nipple syringomatous adenoma|infiltrating nipple syringomatous adenoma UMLS:C1518329|DOID:7839|NCIT:C40363 owl:Class MONDO:0008183 biolink:NamedThing annular pancreas Annular pancreas is a distinct form of duodenal atresia in which the head of the pancreas forms a ring around the second portion of the duodenum. tmpaxzxjjyw_mondo_relaxed.owl pancreas, annular NCIT:C98813|UMLS:C0149955|MedDRA:10071757|GARD:0000705|SCTID:40315008|MESH:C536376|ICD10:Q45.1|Orphanet:675|DOID:0060850|OMIM:167750 https://rarediseases.info.nih.gov/diseases/705/annular-pancreas owl:Class MONDO:0009543 biolink:NamedThing prominent glabella-microcephaly-hypogenitalism syndrome Prominent glabella B microcephaly B hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. tmpaxzxjjyw_mondo_relaxed.owl prominent glabella microcephaly hypogenitalism|Mac Dermot Winter syndrome|MacDermot-Winter syndrome GARD:0000144|MESH:C537714|UMLS:C0796024|OMIM:247990|Orphanet:2083|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/144/mac-dermot-winter-syndrome owl:Class GO:0072507 biolink:NamedThing divalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of divalent cations within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006015 biolink:NamedThing Waterhouse-Friderichsen syndrome A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency. tmpaxzxjjyw_mondo_relaxed.owl WFS|Waterhouse–Friderichsen syndrome|meningococcal hemorrhagic adrenalitis|fatal pneumococcal Waterhouse-Friderichsen syndrome GARD:0009449|MedDRA:10047847|MESH:D014884|ICD10:A39.1|DOID:9931|UMLS:C0043068|ICD10:E35.1*|NCIT:C85225|ICD9:036.3|EFO:0007544|SCTID:36102002|ICD10:A39.1+|Orphanet:100067 owl:Class HGNC:8582 biolink:NamedThing PAH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001683 biolink:NamedThing pancreatic mucinous ductal ectasia tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5717|DOID:13313|UMLS:C1335310 owl:Class ENVO:09000015 biolink:NamedThing amount of nitrogen atom in water The amount of a nitrogen atom when measured in water. tmpaxzxjjyw_mondo_relaxed.owl water nitrogen atom amount owl:Class ENVO:09000013 biolink:NamedThing amount of nitrogen atom in environmental material The amount of a nitrogen atom when measured in environmental material. tmpaxzxjjyw_mondo_relaxed.owl environmental material nitrogen atom amount owl:Class MONDO:0007870 biolink:NamedThing labia minora, incomplete adhesion of tmpaxzxjjyw_mondo_relaxed.owl labia minora, incomplete adhesion of OMIM:149600 owl:Class MONDO:0016853 biolink:NamedThing ring chromosome Y Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed. tmpaxzxjjyw_mondo_relaxed.owl Ring chromosome Y syndrome|Ring chromosome type Y|r(Y) ICD10:Q98.6|Orphanet:261529|SCTID:763407008 owl:Class MONDO:0008236 biolink:NamedThing phlebectasia of lips tmpaxzxjjyw_mondo_relaxed.owl phlebectasia of lips UMLS:C1868391|OMIM:171450|MESH:C566806 owl:Class GO:1904170 biolink:NamedThing regulation of bleb assembly Any process that modulates the frequency, rate or extent of bleb assembly. tmpaxzxjjyw_mondo_relaxed.owl regulation of cell blebbing owl:Class MONDO:0008427 biolink:NamedThing sister chromatid exchange, frequency of tmpaxzxjjyw_mondo_relaxed.owl SCE, frequency of|sister chromatid exchange, frequency of OMIM:182220 owl:Class MONDO:0003294 biolink:NamedThing pericardium leiomyoma A benign smooth muscle neoplasm arising from the pericardium. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. tmpaxzxjjyw_mondo_relaxed.owl pericardial leiomyoma|leiomyoma of pericardium|pericardium leiomyoma|leiomyoma of the pericardium UMLS:C1335380|NCIT:C6743|DOID:5137 owl:Class MONDO:0010671 biolink:NamedThing microphthalmia, syndromic 1 tmpaxzxjjyw_mondo_relaxed.owl MAA, formerly|microphthalmia, syndromic type 1|MCOPS4, formerly|ANOP1, formerly|microphthalmia with ankyloblepharon and mental retardation|microphthalmia, syndromic 1|MCOPS1|Lenz microphthalmia syndrome|MCOPS4|syndromic microphthalmia type 4|microphthalmia, syndromic 4, formerly|Lenz dysplasia|microphthalmia with ankyloblepharon and intellectual disability|microphthalmia syndromic 4 ICD10:Q11.2|OMIM:309800|MESH:C564457|GARD:0005066|Orphanet:568|MESH:C537464|SCTID:717222003|Orphanet:85275|ICD9:759.89|SCTID:438504004 https://rarediseases.info.nih.gov/diseases/5066/microphthalmia-syndromic-4 owl:Class UBERON:0026246 biolink:NamedThing sacral spinal cord white matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017511 biolink:NamedThing split hand, unilateral Split hand, unilateral is a rare, non-syndromic limb reduction defect, clinically and genetically heterogeneous, characterized by unilateral underdevelopment or absence of the central rays of the autopod, with absence of all, or just some, of the central phalanges and at least part of the associated metacarpal bones, yielding a cleft appearance of the hand. It is frequently associated with syndactyly and aplasia/hypoplasia of remaining digits and metacarpal bones. No other dysmorphic features are observed and development is appropriate for age. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q71.6|Orphanet:295120 owl:Class MONDO:0031008 biolink:NamedThing nephrotic syndrome, type 24 tmpaxzxjjyw_mondo_relaxed.owl NPHS24 OMIM:619263 owl:Class MONDO:0100348 biolink:NamedThing neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems. tmpaxzxjjyw_mondo_relaxed.owl NEDMILG OMIM:619091 owl:Class CL:0000162 biolink:NamedThing parietal cell A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl. tmpaxzxjjyw_mondo_relaxed.owl oxyntic cell FMA:62901|BTO:0001780 cell owl:Class MONDO:0009303 biolink:NamedThing anti-glomerular basement membrane disease An autoimmune disease that affects the lungs and kidneys and is characterized by pulmonary alveolar hemorrhage (bleeding in the lungs) and a kidney disease known as glomerulonephritis. Some use the term 'Goodpasture syndrome' for the findings of glomerulonephritis and pulmonary hemorrhage and the term 'Goodpasture disease' for those patients with glomerulonephritis, pulmonary hemorrhage, and anti-GBM antibodies. Currently, the preferred term for both conditions is “ anti-GBM antibody disease ”. Circulating antibodies are directed against the collagen of the part of the kidney known as the glomerular basement membrane (GBM), resulting in acute or rapidly progressive glomerulonephritis. Antibodies also attack the collagen of the air sacs of the lung (alveoli) resulting in bleeding of the lung (pulmonary hemorrhage). Symptoms may include general body discomfort or pain, bleeding from the nose and/or blood in the urine, respiratory problems, anemia, chest pain, and kidney failure. Anti-GBM disease is thought to result from an environmental insult (smoking, infections, exposure to certain drugs) in a person with genetic susceptibility, such as a specific human leukocyte antigen (HLA) type. Diagnosis is confirmed with the presence of anti-GBM antibody in the blood or in the kidney. The treatment of choice is plasmapheresis in conjunction with prednisone and cyclophosphamide. tmpaxzxjjyw_mondo_relaxed.owl anti-glomerular basement membrane disease|anti-glomerular basement membrane antibody disease|rapidly progressive glomerulonephritis with pulmonary hemorrhage|anti-GBM syndrome|pulmonary renal syndrome|Goodpasture syndrome|glomerulonephritis - pulmonary hemorrhage EFO:0007290|DOID:9808|MESH:D019867|ICD10:N08.5*|ICD10:M31.0|NCIT:C84566|GARD:0002551|ICD9:446.21|UMLS:C0403529|Orphanet:375|MedDRA:10018620|ICD10:M31.0+|OMIM:233450|SCTID:236432001 https://rarediseases.info.nih.gov/diseases/2551/goodpasture-syndrome owl:Class HGNC:26257 biolink:NamedThing PDZD7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0030724 biolink:NamedThing Central nervous system cyst A fluid-filled sac (cyst) located within the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl Cyst of the central nervous system|CNS cyst SNOMEDCT_US:277333006|MSH:D020863|UMLS:C0349606 Cysts of CNS are usually maldevelopmental in nature, but in some cases are acquired. The recognition of these cysts radiologically and confirmation by pathology is essential for prognostic purposes. human_phenotype owl:Class GO:0045250 biolink:NamedThing cytosolic pyruvate dehydrogenase complex Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). Usually contains fewer subunits than its eukaryotic counterpart; for example, the E. coli complex contains 12 E1 dimers, 8 E2 trimers, and 6 E3 dimers arranged in highly symmetric cubic order. tmpaxzxjjyw_mondo_relaxed.owl pyruvate dehydrogenase complex (lipoamide) owl:Class MONDO:0009582 biolink:NamedThing Mietens syndrome Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii. tmpaxzxjjyw_mondo_relaxed.owl corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and mental retardation|intellectual disability syndrome, Mietens Weber type|mental retardation syndrome, Mietens-WEBER type|mental retardation syndrome, Mietens Weber type|corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability|intellectual disability, Mietens-Weber type|Mietens-Weber syndrome|intellectual disability syndrome, Mietens-WEBER type OMIM:249600|ICD9:759.89|MESH:C537444|Orphanet:2557|ICD10:Q87.8|UMLS:C0265249|SCTID:40291001|GARD:0003524 owl:Class MONDO:0004853 biolink:NamedThing gonococcal endophthalmia tmpaxzxjjyw_mondo_relaxed.owl ICD9:098.42|DOID:9698|ICD10:A54.39|UMLS:C0153213|SCTID:111807001 owl:Class CL:0008001 biolink:NamedThing hematopoietic precursor cell Any hematopoietic cell that is a precursor of some other hematopoietic cell type. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001373 biolink:NamedThing Joint dislocation Displacement or malalignment of joints. tmpaxzxjjyw_mondo_relaxed.owl Joint dislocations|Joint dislocation|Recurrent joint dislocations MSH:D004204|SNOMEDCT_US:87642003|UMLS:C0012691|SNOMEDCT_US:108367008 Dislocation is defined as a complete disruption of the joint and subluxation is defined as a partial dislocation followed by relocation. HP:0002772|HP:0005837 human_phenotype owl:Class CHEBI:38323 biolink:NamedThing cholinergic drug Any drug used for its actions on cholinergic systems. Included here are agonists and antagonists, drugs that affect the life cycle of acetylcholine, and drugs that affect the survival of cholinergic neurons. tmpaxzxjjyw_mondo_relaxed.owl cholinergic drugs|cholinomimetic|cholinergic agent owl:Class CHEBI:64577 biolink:NamedThing flour treatment agent A food additive which is added to flour or dough to improve baking quality and/or colour. tmpaxzxjjyw_mondo_relaxed.owl improving agents|improving agent|flour treatment agent|dough improvers|dough improver owl:Class MONDO:0002952 biolink:NamedThing follicular basal cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl skin follicular basal cell carcinoma|follicular (pilar) basal cell carcinoma NCIT:C27538|DOID:4295|UMLS:C1883723|SCTID:402526009 owl:Class NCBITaxon:11086 biolink:NamedThing Louping ill virus tmpaxzxjjyw_mondo_relaxed.owl LI GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001330 biolink:NamedThing pampiniform plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017446 biolink:NamedThing apodia tmpaxzxjjyw_mondo_relaxed.owl congenital absence of foot Orphanet:294986|ICD10:Q72.3|SCTID:371197005 owl:Class MONDO:0015660 biolink:NamedThing sporadic fetal brain disruption sequence Sporadic fetal brain disruption sequence is a rare, non-syndromic, central nervous system malformation disorder characterized by severe microcephaly (average occipitofrontal circumference -5.8 SD), overlapping sutures, keel-like occipital bone prominence, scalp rugae with normal hair pattern and signs of neurological impairment. Brain imaging may show ventriculomegaly, cortical tissue deficit, and hydranencephaly. tmpaxzxjjyw_mondo_relaxed.owl SCTID:763717004|Orphanet:1665|UMLS:CN237425|ICD10:Q02 owl:Class MONDO:0100297 biolink:NamedThing short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 tmpaxzxjjyw_mondo_relaxed.owl short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies|SSFSC UMLS:CN807949|OMIM:617877 owl:Class MONDO:0033547 biolink:NamedThing Li-Ghorbani-Weisz-Hubshman syndrome tmpaxzxjjyw_mondo_relaxed.owl LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME|LIGOWS OMIM:618974 owl:Class MONDO:0016735 biolink:NamedThing papillary glioneuronal tumor A WHO grade I, indolent and relatively circumscribed brain tumor. Morphologically it is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. In between the pseudopapillae aggregates of neurocytes, large neurons, and ganglioid cells are present. tmpaxzxjjyw_mondo_relaxed.owl papillary glioneuronal tumor (WHO grade I)|PGNT|pseudopapillary neurocytoma with glial differentiation|pseudopapillary ganglioglioneurocytoma NCIT:C92554|ONCOTREE:PGNT|ICDO:9509/1|Orphanet:251962|UMLS:C2985174 owl:Class MONDO:0026730 biolink:NamedThing Basilicata-Akhtar syndrome tmpaxzxjjyw_mondo_relaxed.owl MRXSBA|BASILICATA-AKHTAR SYNDROME|Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type|Mental Retardation, X-Linked, Syndromic 36 OMIM:301032 owl:Class FOODON:00002196 biolink:NamedThing refined or partially-refined food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4171 biolink:NamedThing GATA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0033354 biolink:NamedThing Abnormal urine metabolite level Any deviation from the normal concentration of a metabolite in urine. tmpaxzxjjyw_mondo_relaxed.owl 2020-12-01 12:00:51+00:00 As water reabsorption in kidneys affect urinary solute concentrations, various methods are applied to normalize the measured concentration. Frequently, concentrations are reported as a ratio to urinary creatinine. The HPO terms in this subhierarchy therefore use the word 'level' to indicate that appropriate normalization has been performed before concluding that the amount of the indicated metabolite is abnormal. peter human_phenotype owl:Class GO:0003690 biolink:NamedThing double-stranded DNA binding Binding to double-stranded DNA. tmpaxzxjjyw_mondo_relaxed.owl dsDNA binding owl:Class MONDO:0030938 biolink:NamedThing spermatogenic failure 52 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 52|SPGF52 OMIM:619202 owl:Class MONDO:0004598 biolink:NamedThing acute cor pulmonale Acute form of cor pulmonale. tmpaxzxjjyw_mondo_relaxed.owl cor pulmonale, acute SCTID:49584005|UMLS:C0155672|DOID:8517|ICD10:I26.09|ICD9:415.0 owl:Class MONDO:0012028 biolink:NamedThing autoimmune disease, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl AIS3|autoimmune disease, susceptibility to, 3|autoimmune disease susceptibility locus, chromosome 8-related|vitiligo-associated multiple autoimmune disease susceptibility 4 OMIM:608392 owl:Class UBERON:0006056 biolink:NamedThing posterior surface of head tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011767 biolink:NamedThing Abnormality of the parathyroid physiology A functional abnormality of the parathyroid gland. tmpaxzxjjyw_mondo_relaxed.owl Parathyroid issue|Parathyroid dysfunction UMLS:C4023198 peter 2012-04-22T04:09:13Z human_phenotype owl:Class MONDO:0032573 biolink:NamedThing bone marrow failure syndrome 5 tmpaxzxjjyw_mondo_relaxed.owl BMFS5|BONE MARROW FAILURE SYNDROME 5 OMIM:618165 owl:Class MONDO:0018920 biolink:NamedThing peripartum cardiomyopathy Peripartum cardiomyopathy (PPCM) is an idiopathic, potentially fatal form of dilated cardiomyopathy that develops during the final month of pregnancy or within five months after delivery. tmpaxzxjjyw_mondo_relaxed.owl peripartum cardiomyopathy|Meadows' syndrome|postpartum cardiomyopathy|antepartum peripartum cardiomyopathy|postpartum peripartum cardiomyopathy ICD9:674.5|DOID:9997|MedDRA:10049430|ICD9:674.54|Orphanet:563|SCTID:62377009|ICD10:O90.3|EFO:0002628|GARD:0000220|UMLS:C0269972 owl:Class MONDO:0006765 biolink:NamedThing Fusobacterium infectious disease Infections with bacteria of the genus fusobacterium. tmpaxzxjjyw_mondo_relaxed.owl infection due to Fusobacterium|infection caused by Fusobacterium|Fusobacterium disease or disorder|Fusobacterium caused disease or disorder EFO:1000943|SCTID:712657002|UMLS:C4039413|ICD9:041.84 owl:Class HGNC:12572 biolink:NamedThing UNG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012550 biolink:NamedThing iris pattern tmpaxzxjjyw_mondo_relaxed.owl iris pattern OMIM:610744|UMLS:C1853115 owl:Class MONDO:0030854 biolink:NamedThing combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl OIEDS Syndrome 1|combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1|OIEDS1 OMIM:619115 owl:Class MONDO:0001285 biolink:NamedThing endometriosis of pelvic peritoneum tmpaxzxjjyw_mondo_relaxed.owl SCTID:198251001|UMLS:C0156345|DOID:11429|ICD9:617.3|ICD10:N80.3 owl:Class OBO:MF_0000033 biolink:NamedThing mental disposition A mental disposition is a bodily disposition that is realized in a mental process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018845 biolink:NamedThing focal myositis Focal myositis is a rare inflammatory myopathy characterized by a localized swelling of skeletal muscle that is usually located in the lower extremities. tmpaxzxjjyw_mondo_relaxed.owl focal nodular myositis|inflammatory pseudotumor of skeletal muscle SCTID:240119009|Orphanet:48918|ICD9:729.1|ICD10:M60.8 owl:Class GO:0042697 biolink:NamedThing menopause Cessation of menstruation, occurring in (e.g.) the human female usually around the age of 50. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0022601 biolink:NamedThing menstrual cycle phase The progression of physiological phases, occurring in the endometrium during the menstrual cycle that recur at regular intervals during the reproductive years. The menstrual cycle is an ovulation cycle where the endometrium is shed if pregnancy does not occur. tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03412409 biolink:NamedThing coelenterate *Coelenterata* is an obsolete term encompassing the animal phyla *Cnidaria* (coral animals, true jellies, sea anemones, sea pens, and their allies) and *Ctenophora* (comb jellies). [https://en.wikipedia.org/wiki/Coelenterata] tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007488 biolink:NamedThing Lewy body dementia A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease. tmpaxzxjjyw_mondo_relaxed.owl dementia, Lewy body|Lewy body variant of Alzheimer disease|dementia with Lewy bodies|Lewy body dementia|DLB|diffuse Lewy body disease with gaze palsy|diffuse Lewy body disease|Lewy body disease|cortical Lewy body disease|Senile dementia of the Lewy body type NCIT:C84826|ICD10:G31.83|SCTID:312991009|OMIM:127750|UMLS:C0752347|GARD:0003243|Orphanet:1648|ICD9:331.82|DOID:12217|EFO:0006792 owl:Class GO:0042044 biolink:NamedThing fluid transport The directed movement of substances that are in liquid form in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013159 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1|muscular dystrophy, congenital, Pomt1-related|congenital muscular dystrophy-POMT1 related|muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1|MDDGB1 Orphanet:370959|UMLS:C3150415|Orphanet:370968|OMIM:613155 owl:Class MONDO:0002736 biolink:NamedThing ampulla of vater mucinous adenocarcinoma A carcinoma with glandular differentiation arising from the ampulla of Vater. Morphologically, it is characterized by the presence of mucoid stroma formation. tmpaxzxjjyw_mondo_relaxed.owl hepatopancreatic ampulla mucinous adenocarcinoma|ampulla of Vater mucinous adenocarcinoma NCIT:C27416|DOID:3693|UMLS:C1332248 owl:Class MONDO:0004231 biolink:NamedThing spindle cell variant squamous cell breast carcinoma A squamous cell carcinoma that arises from the breast parenchyma and is characterized by the presence of spindle-shaped malignant cells. tmpaxzxjjyw_mondo_relaxed.owl squamous cell breast carcinoma, spindle cell variant|metaplastic adenocarcinoma with spindle cell differentiation UMLS:C1519487|ONCOTREE:MASCC|DOID:7460|NCIT:C40358 owl:Class MONDO:0006330 biolink:NamedThing ossifying fibromyxoid tumor A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients. tmpaxzxjjyw_mondo_relaxed.owl ossifying fibromyxoma|ossifying fibromyxoid neoplasm|OFMT|ossifying fibromyxoid tumor (morphologic abnormality) EFO:1000408|SCTID:404076001|DOID:2685|UMLS:C1266128|ICDO:8842/0|ONCOTREE:OFMT|NCIT:C6582 owl:Class MONDO:0011029 biolink:NamedThing myeloid tumor suppressor tmpaxzxjjyw_mondo_relaxed.owl myeloid leukemia-related locus|myeloid tumor suppressor OMIM:601308 owl:Class MONDO:0033818 biolink:NamedThing Terrien marginal degeneration A distinct marginal thinning of the cornea which causes high degree of against-the-rule astigmatism tmpaxzxjjyw_mondo_relaxed.owl Terrien's marginal degeneration Orphanet:519410 owl:Class GO:0050666 biolink:NamedThing regulation of homocysteine metabolic process Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving homocysteine, the amino acid alpha-amino-gamma-mercaptobutanoic acid. tmpaxzxjjyw_mondo_relaxed.owl regulation of homocysteine metabolism|regulation of Hcy metabolic process|regulation of Hcy metabolism owl:Class MONDO:0016928 biolink:NamedThing partial duplication of chromosome 7 tmpaxzxjjyw_mondo_relaxed.owl partial duplication of chromosome type 7|partial trisomy of chromosome 7 Orphanet:262633|SCTID:726346004 owl:Class GO:0047865 biolink:NamedThing dimethylglycine dehydrogenase activity Catalysis of the reaction: N,N-dimethylglycine + electron-transfer flavoprotein + H2O = sarcosine + formaldehyde + reduced electron-transfer flavoprotein. tmpaxzxjjyw_mondo_relaxed.owl N,N-dimethylglycine:(acceptor) oxidoreductase (demethylating)|N,N-dimethylglycine oxidase activity|N,N-dimethylglycine:acceptor oxidoreductase (demethylating) owl:Class GO:0046997 biolink:NamedThing oxidoreductase activity, acting on the CH-NH group of donors, flavin as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a flavin. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100290 biolink:NamedThing colon serrated polyposis The presence of multiple serrated polyps in the colon. The polyps are predominantly sessile serrated adenomas/polyps. A minority of the polyps are microvesicular variants of hyperplastic polyps. According to some authors, the polyps are proximal to the sigmoid colon. According to others, the polyps are distributed throughout the entire colon. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96470|UMLS:C3272797 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007430 biolink:NamedThing dens evaginatus tmpaxzxjjyw_mondo_relaxed.owl dens evaginatus OMIM:125280|SCTID:63691004 owl:Class CL:1000278 biolink:NamedThing smooth muscle fiber of ileum A smooth muscle cell that is part of the ileum. tmpaxzxjjyw_mondo_relaxed.owl non-striated muscle fiber of ileum FMA:15066 cell owl:Class MONDO:0016282 biolink:NamedThing rhabdomyosarcoma of the cervix uteri A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix. tmpaxzxjjyw_mondo_relaxed.owl cervical rhabdomyosarcoma|uterine cervix rhabdomyosarcoma|rhabdomyosarcoma (disease) of uterine cervix|CERMS|uterine cervix rhabdomyosarcoma (disease) SCTID:763408003|ONCOTREE:CERMS|NCIT:C128048|ICD10:C53.1|UMLS:CN201072|UMLS:C4289809|Orphanet:213802|ICD10:C53.8|ICD10:C53.0 owl:Class MONDO:0012921 biolink:NamedThing type 1 diabetes mellitus 22 Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene. tmpaxzxjjyw_mondo_relaxed.owl insulin-dependent diabetes mellitus 22|diabetes mellitus, insulin-dependent, type 22|type 1 diabetes mellitus caused by mutation in CCR5|CCR5 type 1 diabetes mellitus|diabetes mellitus, insulin-dependent, 22|IDDM22 ICD10:E10|OMIM:612522|DOID:0110759|MESH:C567284|UMLS:C2675864 owl:Class MONDO:0020637 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to a partial deficiency tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C36104 biolink:NamedThing Aggressive Clinical Course tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C35461 biolink:NamedThing Clinical Course of Disease tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005599 biolink:NamedThing malignant epithelioid mesothelioma A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic cells with an epithelioid appearance. In the majority of cases, the neoplastic epithelioid cells lack significant cytologic atypia; mitotic figures are infrequently seen. In a minority of cases, the neoplastic cells are poorly differentiated and there is evidence of nuclear atypia and increased mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl malignant epithelial mesothelioma|epithelioid mesothelioma, malignant|epithelioid mesothelioma|epithelioid mesothelioma, malignant (morphologic abnormality)|epithelial mesothelioma NCIT:C7985|ICDO:9052/3|UMLS:C0862312|DOID:4489|EFO:0006452 owl:Class MONDO:0024857 biolink:NamedThing immature extragonadal teratoma An immature teratoma that develops as a primary tumor in an anatomic site other than the testis or ovary. tmpaxzxjjyw_mondo_relaxed.owl immature extragonadal teratoma|extragonadal primary malignant teratoma|primary malignant extragonadal teratoma|malignant extragonadal teratoma UMLS:C0855163|NCIT:C8884 owl:Class MONDO:0032715 biolink:NamedThing intellectual developmental disorder, autosomal recessive 69 tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69|Mental Retardation, Autosomal Recessive 69|MRT69 OMIM:618383 owl:Class UBERON:8410009 biolink:NamedThing arteriole of anorectum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006447 biolink:NamedThing testicular non-seminomatous germ cell tumor A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms. tmpaxzxjjyw_mondo_relaxed.owl non-seminomatous germ cell tumor of testis|testicular non-seminomatous germ cell tumor|testicular non seminomatous germ cell tumor|testicular germ cell tumor non-seminomatous|non-dysgerminomatous germ cell tumor of testis|testicular non-dysgerminomatous germ cell tumor UMLS:CN204702|NCIT:C9313|OMIM:273300|EFO:1000570|ICD10:C62.1|ICDO:9065/3|Orphanet:363494|UMLS:C1336724|DOID:4086 owl:Class MONDO:0007740 biolink:NamedThing Wagner disease Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment. tmpaxzxjjyw_mondo_relaxed.owl Wagner disease|Wagner syndrome type 1|erosive vitreoretinopathy|Wagner syndrome|dominant hyaloideoretinal dystrophy of Wagner|ERVR|Wagner disease (formerly)|WGVRP|Wagner vitreoretinal Degeneration|WGN1|Wagner vitreoretinopathy|Wagner syndrome 1|vitreoretinal degeneration, Wagner type|VCAN-related vitreoretinopathy|hyaloideoretinal Degeneration of Wagner UMLS:C1840452|ICD10:H35.5|MedDRA:10063383|Orphanet:898|OMIM:143200|GARD:0007871|SCTID:232064001|MESH:C536075 owl:Class IAO:8000018 biolink:NamedThing obo basic subset ontology module A subset ontology that is designed for basic applications to continue to make certain simplifying assumptions; many of these simplifying assumptions were based on the initial version of the Gene Ontology, and have become enshrined in many popular and useful tools such as term enrichment tools. Examples of such assumptions include: traversing the ontology graph ignoring relationship types using a naive algorithm will not lead to cycles (i.e. the ontology is a DAG); every referenced term is declared in the ontology (i.e. there are no dangling clauses). An ontology is OBO Basic if and only if it has the following characteristics: DAG Unidirectional No Dangling Clauses Fully Asserted Fully Labeled No equivalence axioms Singly labeled edges No qualifier lists No disjointness axioms No owl-axioms header No imports tmpaxzxjjyw_mondo_relaxed.owl obo basic subset ontology module owl:Class MONDO:0033926 biolink:NamedThing prepubertal anorexia nervosa tmpaxzxjjyw_mondo_relaxed.owl Orphanet:525738 owl:Class MONDO:0013639 biolink:NamedThing narcolepsy 6, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl NRCLP6|narcolepsy 6, susceptibility to OMIM:614223|Orphanet:2073 owl:Class MONDO:0003880 biolink:NamedThing ceruminous carcinoma An infiltrating adenocarcinoma derived from ceruminous glands in the external auditory canal. tmpaxzxjjyw_mondo_relaxed.owl ceruminous adenocarcinoma|ceruminous adenocarcinoma (morphologic abnormality)|carcinoma, ceruminous gland, malignant ICDO:8420/3|UMLS:C0334353|DOID:6446|NCIT:C4176 owl:Class HP:0011733 biolink:NamedThing Abnormality of adrenal physiology A functional abnormality of the adrenal glands. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023212 peter 2012-04-21T08:05:42Z HP:0002855 human_phenotype owl:Class MONDO:0015085 biolink:NamedThing bathing suit ichthyosis Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body. tmpaxzxjjyw_mondo_relaxed.owl BSI OMIM:242300|UMLS:C4511230|Orphanet:100976|SCTID:725588002|ICD10:Q80.2 owl:Class MONDO:0006565 biolink:NamedThing juvenile dermatitis herpetiformis Dermatitis herpetiformis in children tmpaxzxjjyw_mondo_relaxed.owl ICD10:L12.2|SCTID:5906000|EFO:1000719|DOID:8507|ICD9:694.2|UMLS:C0152092 owl:Class HGNC:29099 biolink:NamedThing TELO2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005243 biolink:NamedThing interventricular septum endocardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:1904254 biolink:NamedThing regulation of iron ion transmembrane transporter activity Any process that modulates the frequency, rate or extent of an iron transmembrane transporter activity. tmpaxzxjjyw_mondo_relaxed.owl regulation of iron channel activity|regulation of iron-specific channel activity|regulation of iron cation channel activity owl:Class MONDO:0012940 biolink:NamedThing inflammatory bowel disease 24 An inflammatory bowel disease that has material basis in variation in the chromosome 20q13. tmpaxzxjjyw_mondo_relaxed.owl IBD24|inflammatory bowel disease type 24|inflammatory bowel disease 24 OMIM:612566|DOID:0110908|MESH:C567252|UMLS:C2675509 owl:Class HGNC:575 biolink:NamedThing AP4S1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2889 biolink:NamedThing DISC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002017 biolink:NamedThing olivopontocerebellar atrophy A group of sporadic and inherited neurodegenerative disorders affecting the cerebellum, pons, and inferior olives. tmpaxzxjjyw_mondo_relaxed.owl Dejerine-Thomas syndrome|Thomas' syndrome|WADIA-swami syndrome|OPCA SCTID:67761004|UMLS:C0028968|DOID:14784|ICD9:333.0|MESH:D009849|NCIT:C84947|GARD:0007250|ICD10:G23.8 owl:Class MONDO:0001482 biolink:NamedThing testicular leukemia A myeloid or more commonly lymphoid leukemia (acute or chronic) affecting the testis. Microscopically, there is interstitial infiltration of the testis by leukemic cells. Acute lymphoblastic leukemia with testicular involvement is not uncommon in boys. Sometimes (up to 10% of the cases), testicular involvement may be the initial manifestation of relapsed acute lymphoblastic leukemia. --03 tmpaxzxjjyw_mondo_relaxed.owl testicular leukemia NCIT:C9277|UMLS:C1336711|DOID:12286 owl:Class MONDO:0001274 biolink:NamedThing anal spasm tmpaxzxjjyw_mondo_relaxed.owl DOID:11374|ICD9:564.6|SCTID:17440005|ICD10:K59.4|UMLS:C0152167 owl:Class MONDO:0010111 biolink:NamedThing odontotrichomelic syndrome Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Freire-Maia odontotrichomelic syndrome|Freire-Maia syndrome|odontotrichomelic syndrome|odontotrichomelic hypohidrotic dysplasia|tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities Orphanet:2723|UMLS:CN074199|MESH:C535637|SCTID:239028001|GARD:0002381|UMLS:C2930960|OMIM:273400 https://rarediseases.info.nih.gov/diseases/2381/freire-maia-odontotrichomelic-syndrome owl:Class MONDO:0020492 biolink:NamedThing hemimegalencephaly Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy. tmpaxzxjjyw_mondo_relaxed.owl macrencephaly|unilateral megalencephaly ICD9:742.4|Orphanet:99802|ICD10:Q04.5|UMLS:C0431391|SCTID:253170008|GARD:0002637|MESH:D065705 https://rarediseases.info.nih.gov/diseases/2637/hemimegalencephaly owl:Class NCBITaxon:12870 biolink:NamedThing Variola major virus tmpaxzxjjyw_mondo_relaxed.owl variola major virus VAR GC_ID:1 NCBITaxon:12869 ncbi_taxonomy owl:Class NCBITaxon:7165 biolink:NamedThing Anopheles gambiae tmpaxzxjjyw_mondo_relaxed.owl African malaria mosquito|Anopheles gambiae S|Anopheles gambiae sensu stricto PMID:16076241|GC_ID:1 NCBITaxon:377270 ncbi_taxonomy owl:Class MONDO:0009366 biolink:NamedThing normal pressure hydrocephalus A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see gait disorders, neurologic), progressive intellectual decline, and urinary incontinence. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of csf including subarachnoid hemorrhage, chronic meningitis, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3) tmpaxzxjjyw_mondo_relaxed.owl low pressure hydrocephalus|hydrocephalus, normal-pressure|NPH|chronic adult hydrocephalus SCTID:30753002|MESH:D006850|DOID:1572|ICD9:331.5|EFO:1001065|ICD10:G91.2|MedDRA:10029773|UMLS:C0020258|OMIM:236690|Orphanet:314928 owl:Class MONDO:0002045 biolink:NamedThing communicating hydrocephalus An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain that occurs as a consequence of impaired cerebrospinal fluid reabsorption by the arachnoid granulations. tmpaxzxjjyw_mondo_relaxed.owl non-obstructive hydrocephalus DOID:1573|ICD9:331.3|SCTID:271569006|MESH:D006849|ICD10:G91.0|NCIT:C34501|UMLS:C0009451 owl:Class ENVO:01000703 biolink:NamedThing hydrological precipitation process Hydrological precipitation is a process during which any product of the condensation of atmospheric water vapour is pulled to the planetary surface by gravity. tmpaxzxjjyw_mondo_relaxed.owl precipitation owl:Class MONDO:0009587 biolink:NamedThing mesoaxial hexadactyly and cardiac malformation tmpaxzxjjyw_mondo_relaxed.owl Mexican Cardiomelic dysplasia|mesoaxial hexadactyly and cardiac malformation UMLS:C0796057|OMIM:249670|MESH:C563087 owl:Class MONDO:0019203 biolink:NamedThing acute interstitial pneumonia Acute interstitial pneumonia (AIP), also referred to as Hamman-Rich syndrome, is a rapidly progressive and histologically distinct form of idiopathic interstitial pneumonia. tmpaxzxjjyw_mondo_relaxed.owl idiopathic pulmonary fibrosis, acute fatal form|Hamman-rich syndrome|Hamman-rich disease|accelerated interstitial pneumonia|AIP|acute interstitial pneumonitis ICD10:J84.114|SCTID:236302005|GARD:0012835|ICD9:516.33|OMIM:178500|UMLS:C1279945|MedDRA:10066728|NCIT:C35806|ICD10:J84.1|Orphanet:79126|DOID:2800 owl:Class MONDO:0006928 biolink:NamedThing proliferative vitreoretinopathy Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes. tmpaxzxjjyw_mondo_relaxed.owl vitreoretinopathy, neovascular inflammatory|vitreoretinopathy, neovascular inflammatory, autosomal dominant|ADNIV|autosomal dominant neovascular inflammatory vitreoretinopathy|retinitis proliferans|VRNI Orphanet:329211|OMIM:193235|UMLS:C0242852|SCTID:232016005|MESH:D018630|DOID:9719|ICD9:362.29|EFO:1001129|ICD10:H35.2|MedDRA:10057896 owl:Class MONDO:0030062 biolink:NamedThing arrhythmogenic right ventricular dysplasia, familial, 14 tmpaxzxjjyw_mondo_relaxed.owl arrhythmogenic right ventricular dysplasia, familial, 14|Arrhythmogenic Right Ventricular Cardiomyopathy 14|ARVD14|ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14 OMIM:618920 owl:Class MONDO:0002306 biolink:NamedThing angular blepharoconjunctivitis A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. tmpaxzxjjyw_mondo_relaxed.owl ICD9:372.21|UMLS:C0155149|SCTID:69397000|DOID:2455|ICD10:H10.52 owl:Class UBERON:0003091 biolink:NamedThing thyroid primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008960 biolink:NamedThing Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-tooth disease-deafness-intellectual disability syndrome|neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers|deafness with Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome|Charcot-Marie-Tooth disease and deafness|hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers|neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers Orphanet:90103|OMIM:214370|ICD10:G60.0|SCTID:715666007 https://github.com/monarch-initiative/mondo/issues/551 owl:Class HGNC:8800 biolink:NamedThing PDGFB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013310 biolink:NamedThing congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations. tmpaxzxjjyw_mondo_relaxed.owl disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency|PORD|disordered steroidogenesis due to cytochrome P450 oxidoreductase|disordered steroidogenesis due to POR deficiency|adrenal hyperplasia, congenital, due to cytochrome P450 oxidoreductase deficiency|POR deficiency|congenital adrenal hyperplasia due to cytochrome POR deficiency ICD10:E25.0|GARD:0012664|Orphanet:95699|Orphanet:418|OMIM:613571|SCTID:715733000 https://rarediseases.info.nih.gov/diseases/12664/congenital-adrenal-hyperplasia-due-to-cytochrome-p450-oxidoreductase-deficiency owl:Class MONDO:0019158 biolink:NamedThing tropical endomyocardial fibrosis Tropical endomyocardial fibrosis is a restrictive cardiopathy, occuring almost exclusively in children and young adults in tropical and subtropical regions, characterized by endocardial fibrosis, affecting the apices and the inflow tract of the right or left ventricle (or both) and manifesting with a restrictive cardimyopathy and atrioventricular regurgitation leading to severe pulmonary hypertension, very high systemic venous pressure and congestive cardiac failure. Suspected etiologies include helminth and protozoal infestation and malnutrition. tmpaxzxjjyw_mondo_relaxed.owl Davies disease|TEMF ICD10:I42.3|UMLS:C2882252|UMLS:CN205710|SCTID:715626008|Orphanet:75565 owl:Class HGNC:5433 biolink:NamedThing IFNAR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017968 biolink:NamedThing 46,XY ovotesticular disorder of sex development 46,XY ovotesticular disorder of sex development is a rare, genetic disorder of sex development characterized by either the coexistence of both male and female reproductive gonads or, more frequently, by the presence of one or both gonads containing a mixture of both testicular and ovarian tissue (ovotestes) in an individual with a normal male 46, XY karyotype. External genitalia are usually ambiguous, but can range from normal male to normal female and if a uterus and/or fallopian tubes are present, they are generally hypoplastic. Cryptorchidism, hypospadias, infertility and increased risk of gonadal tumours are frequently associated. tmpaxzxjjyw_mondo_relaxed.owl 46,XY ovotesticular DSD SCTID:763683004|Orphanet:325345|UMLS:CN227231 owl:Class HGNC:9330 biolink:NamedThing PQBP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:4857 biolink:NamedThing Entomophthorales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:17572334|PMID:17051209 ncbi_taxonomy owl:Class MONDO:0009959 biolink:NamedThing peroxisome biogenesis disorder type 3B A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation. tmpaxzxjjyw_mondo_relaxed.owl infantile Refsum disease|PBD3B|peroxisome biogenesis disorder type 3B|peroxisome biogenesis disorder 3B|infantile phytanic acid storage disease UMLS:C0282527|Orphanet:772|ICD10:G60.1|OMIM:266510|Orphanet:44|DOID:0050444|MESH:D052919 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class CHEBI:23014 biolink:NamedThing carbon oxide tmpaxzxjjyw_mondo_relaxed.owl oxides of carbon|carbon oxides owl:Class UBERON:0004123 biolink:NamedThing myocardial layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014800 biolink:NamedThing progressive scapulohumeroperoneal distal myopathy tmpaxzxjjyw_mondo_relaxed.owl SHPM|myopathy, scapulohumeroperoneal OMIM:616852|ICD10:G71.0|UMLS:C4225181|Orphanet:447977 owl:Class MONDO:0009719 biolink:NamedThing familial atrial myxoma tmpaxzxjjyw_mondo_relaxed.owl intracardiac myxoma|atrial Myxoma, familial|MYXOMA, intracardiac OMIM:255960|Orphanet:615|ICD10:D15.1|GARD:0000139|SCTID:233855002|MESH:C538262|UMLS:C1850635 https://rarediseases.info.nih.gov/diseases/139/atrial-myxoma-familial owl:Class MONDO:0014936 biolink:NamedThing ZTTK syndrome tmpaxzxjjyw_mondo_relaxed.owl brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome|ZTTK multiple congenital anomalies-mental retardation syndrome|ZTTK syndrome|Zhu-Tokita-Takenouchi-Kim syndrome|ZTTKS|ZTTK multiple congenital anomalies-intellectual disability syndrome|Tokita-Kim syndrome|TOKIMS Orphanet:500150|OMIM:617140|UMLS:C4310696 owl:Class MONDO:0011056 biolink:NamedThing Wilms tumor 4 tmpaxzxjjyw_mondo_relaxed.owl WT4|Wilms tumor 4|Wilms tumor type 4|familial Wilms tumor 1 MESH:C563336|Orphanet:654|OMIM:601363|UMLS:C1832426 owl:Class MONDO:0006137 biolink:NamedThing cervical intraepithelial neoplasia grade 2/3 A neoplastic process in the cervix characterized by morphologic features of both moderate and severe intraepithelial neoplasia. tmpaxzxjjyw_mondo_relaxed.owl CIN 2/3 UMLS:C2986622|EFO:1000166|NCIT:C94676 owl:Class GO:0055067 biolink:NamedThing monovalent inorganic cation homeostasis Any process involved in the maintenance of an internal steady state of monovalent inorganic cations within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011139 biolink:NamedThing preaxial hallucal polydactyly tmpaxzxjjyw_mondo_relaxed.owl preaxial hallucal polydactyly UMLS:C1866339|Orphanet:1926|OMIM:601759|MESH:C566632 owl:Class MONDO:0016018 biolink:NamedThing diabetic embryopathy Diabetic embryopathy is characterized by congenital anomalies or foetal/neonatal complications in an infant that are linked to diabetes in the mother. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3830518|Orphanet:1926|NCIT:C113485|OMIM:601759|SCTID:716020005|ICD10:P00.4 owl:Class UBERON:0006312 biolink:NamedThing ocular refractive media tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7500 biolink:NamedThing MT-TV tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0005372 biolink:NamedThing Abnormality of B cell physiology An abnormality of the physiological functioning of B cells. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of B cell physiology|Reduced B cell function UMLS:C1849242 This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells. HP:0005398 human_phenotype owl:Class MONDO:0018031 biolink:NamedThing granulomatous slack skin disease Granulomatous slack skin (GSS) is a variant of mycosis fungoides (MF), a form of cutaneous T-cell lymphoma, and is characterized by the presence of circumscribed areas of pendulous lax skin. tmpaxzxjjyw_mondo_relaxed.owl granulomatous slack skin SCTID:277796003|NCIT:C35464|GARD:0010986|ICD10:C84.0|Orphanet:33111|UMLS:C0376407 owl:Class MONDO:0006458 biolink:NamedThing thymoma type B3 Also known as well-differentiated thymic carcinoma, atypical thymoma, or epithelial thymoma, this type of thymoma displays morphologic characteristics of a well-differentiated carcinoma. The majority of cases occur in the anterior mediastinum as Masaoka stage II or stage III tumors. It is almost always invasive, it recurs frequently, and metastasizes in approximately 20% of the cases. tmpaxzxjjyw_mondo_relaxed.owl well differentiated thymic carcinoma|malignant thymoma type B3|thymoma type B3|thymoma, epithelial|squamoid thymoma|epithelial malignant thymoma|epithelial thymoma|well-differentiated thymic carcinoma|atypical thymoma ICDO:8585/3|UMLS:C0279705|ICDO:8585/1|NCIT:C7997|DOID:7926|EFO:1000583 owl:Class MONDO:0016322 biolink:NamedThing neuroendocrine cell hyperplasia of infancy Neuroendocrine cell hyperplasia of infancy (NCHI) is a non-lethal pediatric form of interstitial lung disease (ILD) characterized by tachypnea without respiratory failure. tmpaxzxjjyw_mondo_relaxed.owl CTI|chronic tachypnoe of infancy|NCHI|NEHI UMLS:C3161105|Orphanet:217560|ICD10:J84.841|SCTID:707435002|NCIT:C120169 owl:Class MONDO:0010620 biolink:NamedThing hypouricemia, familial renal, due to tubular hypersecretion tmpaxzxjjyw_mondo_relaxed.owl hypouricemia, familial renal, due to tubular hypersecretion Orphanet:94088|UMLS:C1843972|MESH:C564405|OMIM:307830 owl:Class OBO:CHR_9606-chr9q21 biolink:NamedThing 9q21 (Human) tmpaxzxjjyw_mondo_relaxed.owl 87800000 65000000 hg38 owl:Class MONDO:0008584 biolink:NamedThing torus palatinus and torus mandibularis tmpaxzxjjyw_mondo_relaxed.owl torus palatinus and torus mandibularis OMIM:189700|UMLS:C1861044|MESH:C566043 owl:Class MONDO:0016979 biolink:NamedThing MRCS syndrome MRCS syndrome is a rare, genetic retinal dystrophy disorder characterized by bilateral microcornea, rod-cone dystrophy, cataracts and posterior staphyloma, in the absence of other systemic features. Night blindness is typically the presenting manifestation and nystagmus, strabismus, astigmatism and angle closure glaucoma may be associated findings. Progressive visual acuity deterioration, due to pulverulent-like cataracts, results in poor vision ranging from no light perception to 20/400. tmpaxzxjjyw_mondo_relaxed.owl microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome Orphanet:263347|OMIM:193220 owl:Class NCBITaxon:1783257 biolink:NamedThing PVC group tmpaxzxjjyw_mondo_relaxed.owl PMID:23851394|GC_ID:11|PMID:16704931|PMID:24185849 NCBITaxon:51290 ncbi_taxonomy owl:Class GO:2000216 biolink:NamedThing positive regulation of proline metabolic process Any process that activates or increases the frequency, rate or extent of proline metabolic process. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of proline metabolism owl:Class MONDO:0011145 biolink:NamedThing colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl coloboma-obesity-hypogenitalism-intellectual disability syndrome|coloboma-obesity-hypogenitalism-mental retardation syndrome UMLS:C1866256|MESH:C566623|ICD10:Q87.8|OMIM:601794|Orphanet:363741 owl:Class CHEBI:36885 biolink:NamedThing 20-oxo steroid An oxo steroid carrying an oxo group at position 20. tmpaxzxjjyw_mondo_relaxed.owl 20-oxo steroids owl:Class MONDO:0019808 biolink:NamedThing aortic valve atresia A rare congenital heart defect characterized by the complete failure of the aortic valve to open. It is manifested during infancy with cyanosis, dyspnea, and rapidly progressing heart failure. tmpaxzxjjyw_mondo_relaxed.owl congenital aortic valve atresia|aortic valve atresia (disease)|congenital atresia of aortic valve|aortic valve atresia aortic valve atresia (disease) MedDRA:10066801|SCTID:51442005|Orphanet:95448|ICD10:Q23.0|NCIT:C98818|HP:0010883 owl:Class UBERON:0006932 biolink:NamedThing vestibular epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002954 biolink:NamedThing superficial multifocal basal cell carcinoma A superficial basal cell carcinoma of the skin characterized by the presence of lobules of basaloid cells which are separated by large distances and represent multifocal discrete tumors. tmpaxzxjjyw_mondo_relaxed.owl superficial basal cell carcinoma|multifocal superficial basal cell carcinoma (morphologic abnormality)|superficial multifocal basal cell carcinoma|multicentric basal cell carcinoma|multifocal superficial basal cell carcinoma|superficial multicentric basal-cell carcinoma NCIT:C4108|ICDO:8091/3|UMLS:C0334256|DOID:4300|SCTID:403914000 owl:Class MONDO:0024973 biolink:NamedThing pneumonia, atypical interstitial, of cattle A cattle disease of uncertain cause, probably an allergic reaction. tmpaxzxjjyw_mondo_relaxed.owl Fog fever|emphysema, acute bovine pulmonary|atypical interstitial pneumonia of cattle|bovine pulmonary adenomatosis|pulmonary adenomatosis, bovine|adenomatosis, bovine pulmonary|pulmonary Adenomatoses, bovine|bovine pulmonary Adenomatoses|Adenomatoses, bovine pulmonary|adenomatosis, pulmonary, bovine|fever, Fog MESH:D011016 owl:Class MONDO:0007169 biolink:NamedThing atherosclerosis susceptibility tmpaxzxjjyw_mondo_relaxed.owl atherosclerosis susceptibility|Atherogenic lipoprotein phenotype|ATHS OMIM:108725 owl:Class CL:0002265 biolink:NamedThing type D cell of colon A D cell located in the colon. tmpaxzxjjyw_mondo_relaxed.owl colonic delta cell|colon D-cell|delta cell of colon FMA:268744 tmeehan 2010-09-10T11:37:35Z cell owl:Class MONDO:0022662 biolink:NamedThing carpo tarsal osteolysis recessive tmpaxzxjjyw_mondo_relaxed.owl GARD:0001129 https://rarediseases.info.nih.gov/diseases/1129/carpo-tarsal-osteolysis-recessive owl:Class HP:0005558 biolink:NamedThing Chronic leukemia A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. tmpaxzxjjyw_mondo_relaxed.owl Chronic leukaemia|Chronic blood cancer SNOMEDCT_US:128933000|SNOMEDCT_US:92812005|UMLS:C1279296|UMLS:C4280478 peter 2008-03-27T10:32:00Z human_phenotype owl:Class GO:0006997 biolink:NamedThing nucleus organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleus. tmpaxzxjjyw_mondo_relaxed.owl nuclear organization|nuclear morphology|nuclear organization and biogenesis|nuclear organisation|nucleus organization and biogenesis owl:Class MONDO:0001118 biolink:NamedThing Queensland tick typhus A spotted fever that has material basis in Rickettsia australis, which is transmitted by ticks (Ixodes holocyclus). The infection has symptom fever, has symptom headache, has symptom myalgia, has symptom maculopapular rash, and has symptom lymphadenopathy. tmpaxzxjjyw_mondo_relaxed.owl Australian tick typhus|Rickettsia australis spotted fever|North Queensland tick typhus SCTID:68981009|UMLS:C2979888|ICD9:082.3|DOID:10784 owl:Class NCBITaxon:42407 biolink:NamedThing Neotoma tmpaxzxjjyw_mondo_relaxed.owl wood rats|pack rats|trade rats GC_ID:1 ncbi_taxonomy owl:Class MONDO:0017941 biolink:NamedThing chikungunya An infection that is caused by the Chikungunya virus, which is transmitted by mosquitoes; it is characterized by fever and severe arthralgia. tmpaxzxjjyw_mondo_relaxed.owl Chikungunya fever|CHIK|Chikungunya virus caused disease or disorder|CHIKV infection|arbovirus A Chikungunya type|Chikungunya virus infectious disease|Chikungunya virus infection|Chikungunya virus disease or disorder|CK GARD:0006038|ICD10:A92.0|SCTID:111864006|DOID:0050012|Orphanet:324625|NCIT:C128422|UMLS:C0008055|MESH:D065632 https://rarediseases.info.nih.gov/diseases/6038/chikungunya owl:Class MONDO:0030281 biolink:NamedThing arthrogryposis multiplex congenita 6 tmpaxzxjjyw_mondo_relaxed.owl AMC6|arthrogryposis multiplex congenita 6 OMIM:619334 owl:Class MONDO:0000250 biolink:NamedThing osmotic diarrheal disease A diarrhea that results from the presence of osmotically active, poorly absorbed solutes in the bowel lumen that inhibit normal water and electrolyte absorption. tmpaxzxjjyw_mondo_relaxed.owl osmotic diarrhea|permeability diarrhea MEDGEN:540779|SCTID:2946003|UMLS:C0267556|DOID:0050130 owl:Class MONDO:0045030 biolink:NamedThing non-infectious diarrheal disease tmpaxzxjjyw_mondo_relaxed.owl presumed non-infectious diarrhea|non-infective diarrhea UMLS:C0267436|SCTID:69980003 owl:Class NCBITaxon:11152 biolink:NamedThing Turkey coronavirus tmpaxzxjjyw_mondo_relaxed.owl TCV|Turkey enteric coronavirus GC_ID:1 ncbi_taxonomy owl:Class UBERON:0018135 biolink:NamedThing fibrocollagenous connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005465 biolink:NamedThing methamphetamine-induced psychosis Abnormal mental state resulting from an abuse of methamphetamine tmpaxzxjjyw_mondo_relaxed.owl EFO:0005242 owl:Class MONDO:0007610 biolink:NamedThing gingival fibromatosis-hypertrichosis syndrome Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback. tmpaxzxjjyw_mondo_relaxed.owl congenital generalized hypertrichosis terminalis|extreme hirsutism with gingival fibromatosis|chromosome 17Q24.2-q24.3 deletion syndrome|microdeletion 17Q24.2-q24.3 syndrome|hypertrichosis terminalis, generalized, with or without gingival hyperplasia|gingival fibromatosis with hypertrichosis|CGHT|hypertrichosis, congenital generalized, with or without gingival hyperplasia|hypertrichosis terminalis, generalized, with gingival hyperplasia|fibromatosis, gingival, with hypertrichosis|HTC3|hereditary gingival fibromatosis with hypertrichosis|hypertrichosis with or without gingival hyperplasia|microduplication 17Q24.2-q24.3 syndrome|hirsutism-congenital gingival hyperplasia syndrome|chromosome 17Q24.2-q24.3 Duplication syndrome ICD10:L68.8|GARD:0002324|OMIM:135400|Orphanet:2026|MESH:C565016|SCTID:716008002 https://rarediseases.info.nih.gov/diseases/2324/gingival-fibromatosis-with-hypertrichosis owl:Class MONDO:0013681 biolink:NamedThing alpha-methylacyl-CoA racemase deficiency A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy. tmpaxzxjjyw_mondo_relaxed.owl AMACR deficiency|AMACR|AMACRD|alpha-methylacyl-CoA racemase deficiency UMLS:C3280428|NCIT:C119677|EFO:1001980|MESH:C565768|DOID:0060602|OMIM:614307|Orphanet:79095|SCTID:700463002 owl:Class MONDO:0016385 biolink:NamedThing hypogonadism-mitral valve prolapse-intellectual disability syndrome This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature. tmpaxzxjjyw_mondo_relaxed.owl primary gonadal failure, short stature, mitral valve prolapse, and mental retardation|Cantalamessa-Baldini-Ambrosi syndrome|Cantalamessa Baldini Ambrosi syndrome|primary gonadal failure, short stature, mitral valve prolapse, and intellectual disability Orphanet:2233|MESH:C537981|ICD10:Q87.8|UMLS:C2931685|GARD:0001078|SCTID:721841001 owl:Class MONDO:0100420 biolink:NamedThing acute myeloid leukemia, KIT gene mutation Any acute myeloid leukemia that has the chromosomal anomaly KIT gene mutation. (A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.) tmpaxzxjjyw_mondo_relaxed.owl AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation|AML, KIT gene mutation|AML, c-KIT Gene Mutation|AML, CD117 Gene Mutation|AML, V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation|AML, CD117 Mutation|AML, C-KIT Mutation NCIT:C39712 owl:Class NCBITaxon:41012 biolink:NamedThing Tineidae tmpaxzxjjyw_mondo_relaxed.owl clothes moths|fungus moths|clothes-moths GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016048 biolink:NamedThing isolated autosomal dominant hypomagnesemia, Glaudemans type Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:199326|SCTID:722008003|ICD10:E83.4|UMLS:CN200728 owl:Class MONDO:0020105 biolink:NamedThing hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 ICD10:D55.1|Orphanet:98370 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: hemolytic anemia' MONDO_0003664 owl:Class MONDO:0017247 biolink:NamedThing communicating congenital bronchopulmonary-foregut malformation tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q33.2|Orphanet:280821 owl:Class CHEBI:5386 biolink:NamedThing globin tmpaxzxjjyw_mondo_relaxed.owl globins|Globin|pentacoordinate globin owl:Class MONDO:0006851 biolink:NamedThing meconium aspiration syndrome A serious condition in which a newborn breathes a mixture of meconium (the first intestinal discharge) and amniotic fluid into the lungs around the time of delivery. Meconium aspiration syndrome occurs in 5-10 percent of births and typically occurs when the infant is stressed, as when the infant is past its due date. tmpaxzxjjyw_mondo_relaxed.owl syndrome, meconium aspiration|meconium inhalation|aspiration syndrome, meconium|meconium aspiration syndrome|meconium aspiration|aspiration, meconium|MAS|neonatal aspiration of meconium DOID:11049|MedDRA:10027057|ICD10:P24.01|Orphanet:70588|EFO:1001037|ICD10:P24.00|GARD:0010494|MESH:D008471|NCIT:C87093|UMLS:C0025048|ICD9:770.1|SCTID:206292002|ICD10:P24.0 Editor note: ORDO says this is rare, yet NCIT says 5-10% of births owl:Class HGNC:11495 biolink:NamedThing SYN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001219 biolink:NamedThing serous conjunctivitis except viral tmpaxzxjjyw_mondo_relaxed.owl serous conjunctivitis, except viral DOID:11197|UMLS:C0155142|SCTID:9824006|ICD9:372.01|ICD10:H10.23 owl:Class MONDO:0020812 biolink:NamedThing exposure, dental pulp The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment. tmpaxzxjjyw_mondo_relaxed.owl Exposure of tooth pulp|PULP EXPOSURE DENT|Exposure, Dental Pulp|EXPOSURE DENT PULP|Dental Pulp Exposure|DENT PULP EXPOSURE|Pulp Exposure, Dental UMLS:C0011406|EFO:1001782|MESH:D003789 owl:Class MONDO:0015724 biolink:NamedThing non-distal trisomy 13q Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. tmpaxzxjjyw_mondo_relaxed.owl non-telomeric trisomy 13q|non-distal duplication 13q|non-distal trisomy type 13q Orphanet:1702|SCTID:764996009|ICD10:Q92.3 owl:Class MONDO:0016963 biolink:NamedThing partial duplication of the long arm of chromosome 13 Chromosome 13q duplication is a chromosome abnormality that occurs when there is an extra(duplicated) copy of genetic material on the long arm (q) of chromosome 13. tmpaxzxjjyw_mondo_relaxed.owl Duplication 13q|13q trisomy|partial trisomy of the long arm of chromosome 13|partial trisomy 13q|partial trisomy of chromosome 13q|partial duplication of chromosome 13q|13q duplication|chromosome 13q duplication|trisomy 13q|partial duplication of the long arm of chromosome type 13 2022-04-01 GARD:0001929|Orphanet:262932 Reason: duplicate. This will be merged with MONDO:0022177 chromosome 13q trisomy owl:Class MONDO:0006862 biolink:NamedThing myofascial pain syndrome Muscular pain in numerous body regions that can be reproduced by pressure on trigger points, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the temporomandibular joint dysfunction syndrome. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027073|SCTID:24693007|DOID:431|ICD9:729.1|MedDRA:10048780|MESH:D009209|EFO:1001054 owl:Class MONDO:0018281 biolink:NamedThing congenital muscular dystrophy with hyperlaxity Congenital muscular dystrophy with hyperlaxity is a rare, genetic neuromuscular disease characterized by congenital hypotonia, generalized, slowly progressive muscular weakness, and proximal joint contractures with distal joint hypermobility and hyperlaxity. Scoliosis or rigidity of the spine and delayed motor milestones are also frequently reported. Other manifestations include a long myopathic face and, in rare cases, respiratory failure, mild to moderate intellectual deficiency and short stature. Ambulation may be impaired with time. tmpaxzxjjyw_mondo_relaxed.owl CMDH SCTID:763314009|Orphanet:371007|ICD10:G71.2 owl:Class MONDO:0004929 biolink:NamedThing constant exophthalmos tmpaxzxjjyw_mondo_relaxed.owl ICD10:H05.24|DOID:9945|UMLS:C0155267|SCTID:89907009|ICD9:376.31 owl:Class UBERON:0035550 biolink:NamedThing superficial vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35479 biolink:NamedThing alkali metal salt tmpaxzxjjyw_mondo_relaxed.owl alkali metal salts owl:Class CL:2000044 biolink:NamedThing brain microvascular endothelial cell Any microvascular endothelial cell that is part of a brain. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-07-09T00:24:53Z cell owl:Class MONDO:0012212 biolink:NamedThing Loeys-Dietz syndrome 1 A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones. tmpaxzxjjyw_mondo_relaxed.owl TGFBR1 Loeys-Dietz syndrome|Loeys-Dietz syndrome type 1|Loeys-Dietz syndrome 1|LDS1|Furlong syndrome|Loeys-Dietz aortic aneurysm syndrome|aortic aneurysm, familial thoracic 5|Loeys-Dietz syndrome caused by mutation in TGFBR1 NCIT:C75119|Orphanet:91387|Orphanet:97295|GARD:0009458|Orphanet:60030|DOID:0070235|UMLS:C2697933|OMIM:609192 owl:Class CHEBI:139589 biolink:NamedThing retinoid anion A carboxylic acid anion obtained by deprotonation of any retinoid carboxy group. tmpaxzxjjyw_mondo_relaxed.owl retinoate|retinoid carboxylic acid anion|retinoates|retinoid anions|retinoid carboxylate anion|retinoid carboxylic acid anions|retinoid carboxylate anions owl:Class ECTO:4000027 biolink:NamedThing exposure to freezing water A exposure event involving the interaction of an exposure receptor to frozen of liquid water. tmpaxzxjjyw_mondo_relaxed.owl exposure to frozen in liquid water owl:Class CL:0002679 biolink:NamedThing natural helper lymphocyte A lymphocyte found in adipose tissue that lacks lineage markers of other lymphocytes but is capable of mediating TH2 cytokine responses. This cell type is found in fat associated lymphoid clusters, proliferates in response to IL2 and produce large amounts of TH2 cytokines such as IL5, IL6 and IL13 tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-08-29T10:08:02Z cell owl:Class MONDO:0030346 biolink:NamedThing ciliary dyskinesia, primary, 47, and lissencephaly tmpaxzxjjyw_mondo_relaxed.owl ciliary dyskinesia, primary, 47, and lissencephaly|CILD47 OMIM:619466 owl:Class MONDO:0015928 biolink:NamedThing secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease tmpaxzxjjyw_mondo_relaxed.owl secondary ILD in childhood and adulthood associated with a connective tissue disease|CTD-ILD 2022-03-01 UMLS:CN200522|Orphanet:182104 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0032819 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 7 tmpaxzxjjyw_mondo_relaxed.owl HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7|hypothyroidism, congenital, nongoitrous, 7|CHNG7|Thyrotropin-Releasing Hormone Resistance, Generalized OMIM:618573 owl:Class MONDO:0011740 biolink:NamedThing Carney-Stratakis syndrome Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites. tmpaxzxjjyw_mondo_relaxed.owl Carney dyad|paraganglioma and gist|paraganglioma and gastric stromal sarcoma|paraganglioma and gastrointestinal stromal tumor|Carney-Stratakis dyad|Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma|Carney-Stratakis syndrome|gist-paraganglioma dyad GARD:0010643|NCIT:C94831|SCTID:722377004|DOID:0080533|ICD10:D44.8|OMIM:606864|UMLS:C1847319|MESH:C564650|Orphanet:97286 owl:Class MONDO:0011493 biolink:NamedThing Stickler syndrome type 2 Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21). tmpaxzxjjyw_mondo_relaxed.owl Stickler syndrome, vitreous type 2|STL 2|STICKLER syndrome, type II|Stickler syndrome, beaded vitreous type|STL2|Stickler syndrome, type 2|Stickler syndrome type II|Stickler syndrome caused by mutation in COL11A1|COL11A1 Stickler syndrome GARD:0005020|ICD10:Q87.5|UMLS:C1858084|MESH:C537493|OMIM:604841|Orphanet:90654|Orphanet:828|NCIT:C74985 https://rarediseases.info.nih.gov/diseases/5020/stickler-syndrome-type-2 owl:Class UBERON:0007174 biolink:NamedThing medial border of scapula tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007171 biolink:NamedThing border of scapula tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:362 biolink:NamedThing AK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011148 biolink:NamedThing Spondylospinal thoracic dysostosis Spondylospinal thoracic dysostosis is an extremely rare skeletal disorder characterized bya short, curved spine and fusion of the spinous processes, short thorax with 'crab-like' configuration of the ribs, underdevelopment of the lungs (pulmonary hypoplasia), severe arthrogryposis and multiple pterygia (webbing of the skin across joints), and underdevelopment of the bones of the mouth.This condition is believed to be inherited in an autosomal recessive manner.It does notappear to be compatible with life. tmpaxzxjjyw_mondo_relaxed.owl spondylospinal thoracic dysostosis GARD:0010571|OMIM:601809|MESH:C566622|UMLS:C1866184 https://rarediseases.info.nih.gov/diseases/10571/spondylospinal-thoracic-dysostosis owl:Class MONDO:0006281 biolink:NamedThing lung signet ring cell carcinoma A morphologic variant of lung adenocarcinoma characterized by the presence of signet ring cells. tmpaxzxjjyw_mondo_relaxed.owl lung signet ring cell carcinoma|signet ring lung adenocarcinoma SCTID:707407001|DOID:0080305|NCIT:C45514|ICD9:162.9|EFO:1000338 owl:Class HGNC:12449 biolink:NamedThing TYROBP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010179 biolink:NamedThing isolated right ventricular hypoplasia Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. tmpaxzxjjyw_mondo_relaxed.owl right ventricle hypoplasia|right ventricular hypoplasia|hypoplasia of the right ventricle|isolated hypoplasia of the right ventricle|right ventricular hypoplasia, isolated|Irvh GARD:0004721|OMIM:277200|MESH:C535682|SCTID:718135001|Orphanet:439|UMLS:C1848587|ICD10:Q22.6 owl:Class MONDO:0001553 biolink:NamedThing phacolytic glaucoma An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens. tmpaxzxjjyw_mondo_relaxed.owl endophthalmitis phacoanaphylactica UMLS:C0152137|SCTID:32893002|ICD9:365.51|DOID:12570 owl:Class MONDO:0007934 biolink:NamedThing benign concentric annular macular dystrophy Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration. tmpaxzxjjyw_mondo_relaxed.owl macular dystrophy, benign concentric annular|Mcdca|maculopathy, bull's eye|macular dystrophy, concentric annular ICD10:H35.5|MESH:C537833|OMIM:153870|Orphanet:251287|GARD:0009887|UMLS:C4304667|SCTID:719520001 owl:Class MONDO:0018420 biolink:NamedThing autosomal recessive spastic paraplegia type 68 tmpaxzxjjyw_mondo_relaxed.owl SPG68 ICD10:G11.4|Orphanet:401825|UMLS:CN226127 owl:Class MONDO:0016026 biolink:NamedThing infant epilepsy with migrant focal crisis An infantile epilepsy syndrome characterized by early-onset progressive encephalopathy with migrant, continuous myoclonus. Three cases have been reported. The focal continuous myoclonus appeared during the first months of life. Prolonged bilateral myoclonic seizures and generalized tonic-clonic seizures occurred later. Subsequently, a progressive encephalopathy with hypotonia and ataxia appeared. Cortical atrophy was revealed by computed tomography (CT) scan and magnetic resonance imaging (MRI). The aetiology is unknown. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:1943|GARD:0002995|ICD10:G40.4|UMLS:C4510564|SCTID:724274009 https://rarediseases.info.nih.gov/diseases/2995/infant-epilepsy-with-migrant-focal-crisis owl:Class MONDO:0010471 biolink:NamedThing Cornelia de Lange syndrome 5 tmpaxzxjjyw_mondo_relaxed.owl Cornelia De Lange syndrome type 5|CDLS5|Cornelia DE Lange syndrome 5|Cornelia de Lange syndrome 5 UMLS:C3550903|DOID:0080509|OMIM:300882|Orphanet:199 owl:Class HGNC:12766 biolink:NamedThing NSD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018667 biolink:NamedThing neck of scapula tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:55324 biolink:NamedThing gastrointestinal drug A drug used for its effects on the gastrointestinal system, e.g. controlling gastric acidity, regulating gastrointestinal motility and water flow, and improving digestion. tmpaxzxjjyw_mondo_relaxed.owl gastrointestinal drugs|gastrointestinal agent|gastrointestinal agents owl:Class HGNC:18358 biolink:NamedThing IL17RC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004270 biolink:NamedThing breast ductal adenoma A benign, well circumscribed neoplasm that is located within the lumen of a duct in the breast parenchyma. It is characterized by the presence of glandular structures at the periphery and fibrous tissue at the center of the tumor. tmpaxzxjjyw_mondo_relaxed.owl breast ductal adenoma|ductal adenoma NCIT:C40384|UMLS:C1511307|DOID:7538 owl:Class MONDO:0011374 biolink:NamedThing hypercholesterolemia, familial, 4 An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia. tmpaxzxjjyw_mondo_relaxed.owl ARH2|FHCB2|hypercholesterolemia, autosomal recessive, 1|ARH|hypercholesterolemia, autosomal recessive, 1, formerly|ARH1|familial autosomal recessive hypercholesterolemia|hypercholesterolemia, autosomal recessive, 2, formerly|autosomal recessive hypercholesterolemia 1|FHCB1|FHCB1, formerly|hypercholesterolemia, autosomal recessive, 2|FHCB2, formerly|autosomal recessive hypercholesterolemia 2|hypercholesterolemia, autosomal recessive OMIM:603813|NCIT:C128114|DOID:0090105|ICD10:E78.0|Orphanet:391665|UMLS:C1863512|MESH:C566331 owl:Class MONDO:0032703 biolink:NamedThing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis tmpaxzxjjyw_mondo_relaxed.owl SSASKS|SHORT STATURE, AMELOGENESIS IMPERFECTA, AND SKELETAL DYSPLASIA WITH SCOLIOSIS OMIM:618363 owl:Class MONDO:0018731 biolink:NamedThing lethal multiple congenital anomalies/dysmorphic syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:459787 owl:Class MONDO:0033619 biolink:NamedThing myopathy, epilepsy, and progressive cerebral atrophy tmpaxzxjjyw_mondo_relaxed.owl MEPCA OMIM:619036 owl:Class NCBITaxon:32594 biolink:NamedThing Babesiidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003561 biolink:NamedThing forebrain dura mater tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012489 biolink:NamedThing cataract 23 Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA4 gene. tmpaxzxjjyw_mondo_relaxed.owl early-onset non-syndromic cataract caused by mutation in CRYBA4|cataract 23, multiple types|CRYBA4 early-onset non-syndromic cataract|cataract 23, multiple types, with or without microcornea|cataract 23, lamellar|lamellar cataract 23|cataract 23|cataract type 23|CTRCT23 ICD10:Q12.0|DOID:0110271|OMIM:610425|UMLS:C3808012|Orphanet:91492|Orphanet:98995 owl:Class MONDO:0019122 biolink:NamedThing idiopathic acute eosinophilic pneumonia Idiopathic acute eosinophilic pneumonia (IAEP) is an eosinophilic pneumonia of undetermined etiology that is characterized by acute febrile hypoxic respiratory failure associated with diffuse radiographic infiltrates and pulmonary eosinophilia, but without concurring allergy or infection. tmpaxzxjjyw_mondo_relaxed.owl Loeffler's pneumonia|Loffler's syndrome|pulmonary infiltrates with eosinophilia|Loeffler syndrome|Löffler syndrome|IAEP|Loffler syndrome MESH:D011657|DOID:9503|UMLS:CN227574|ICD10:J82|GARD:0000107|SCTID:64936001|NCIT:C35301|UMLS:C4518469|Orphanet:724|GARD:0000519|UMLS:C0242459 owl:Class MONDO:0011514 biolink:NamedThing tricuspid atresia Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV). tmpaxzxjjyw_mondo_relaxed.owl tricuspid valve atresia|congenital agenesis of the tricuspid valve|congenital atresia of tricuspid valve|tricuspid atresia (disease)|tricuspid atresia tricuspid atresia (disease) MESH:D018785|Orphanet:1209|GARD:0005274|ICD10:Q22.4|UMLS:C0243002|SCTID:63042009|DOID:0080169|HP:0011662|MedDRA:10049767|OMIM:605067|NCIT:C85202 owl:Class MONDO:0018450 biolink:NamedThing spinal muscular atrophy with respiratory distress type 2 Spinal muscular atrophy with respiratory distress type 2 is a rare, genetic, motor neuron disease characterized by progressive early respiratory failure associated with diaphragm paralysis, distal muscular weakness, joint contractures, and axial hypotonia with preserved antigravity limb movements. Phenotype overlaps considerably with SMARD type 1 but is differentiated by a mutation in a different gene. tmpaxzxjjyw_mondo_relaxed.owl severe infantile axonal neuropathy with respiratory failure type 2|diaphragmatic spinal muscular atrophy type 2|SMARD2|X-linked spinal muscular atrophy with respiratory distress UMLS:CN226195|ICD10:G12.2|Orphanet:404521 owl:Class HGNC:19048 biolink:NamedThing ASPM tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007557 biolink:NamedThing epidermolysis bullosa with congenital localized absence of skin and deformity of nails tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa with congenital localized absence of skin and deformity of nails|epidermolysis bullosa dystrophica, Bart type ICD9:757.39|DOID:0111347|SCTID:2689001|OMIM:132000|MESH:C562638 owl:Class MONDO:0007862 biolink:NamedThing Waardenburg syndrome type 3 Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. tmpaxzxjjyw_mondo_relaxed.owl WS3|Waardenburg syndrome type III|White forelock (poliosis) syndrome with multiple congenital malformations|Waardenburg syndrome with upper limb anomalies|Klein-Waardenburg syndrome|Waardenburg syndrome with limb anomalies|Waardenburg syndrome, type 3 ICD10:E70.3|Orphanet:896|OMIM:148820|DOID:0110949|GARD:0005523|Orphanet:3440 https://rarediseases.info.nih.gov/diseases/5523/waardenburg-syndrome-type-3 owl:Class HP:0000587 biolink:NamedThing Abnormality of the optic nerve Abnormality of the optic nerve. tmpaxzxjjyw_mondo_relaxed.owl optic nerve abnormalities|Optic nerve issue UMLS:C0029131 The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. The term 'optic disc' is frequently used to describe the portion of the optic nerve clinically visible on fundoscopic examination. human_phenotype owl:Class MONDO:0014730 biolink:NamedThing microcephaly 16, primary, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl microcephaly 16, primary, autosomal recessive; MCPH16|MCPH16|microcephaly 16, primary, autosomal recessive DOID:0070289|OMIM:616681|UMLS:C4225249 owl:Class MONDO:0016173 biolink:NamedThing non-paraneoplastic sensory ganglionopathy tmpaxzxjjyw_mondo_relaxed.owl non-paraneoplastic sensory neuronopathy Orphanet:208989 owl:Class NCBITaxon:1329799 biolink:NamedThing Archelosauria tmpaxzxjjyw_mondo_relaxed.owl Archosauria-Testudines|Testudines + Archosauria group GC_ID:1|PMID:25450099|PMID:22839753 ncbi_taxonomy owl:Class HGNC:7493 biolink:NamedThing MT-TN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004758 biolink:NamedThing scotoma A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of eye diseases (e.g., retinal diseases and glaucoma); optic nerve diseases, and other conditions. tmpaxzxjjyw_mondo_relaxed.owl scotoma of blind spot area|enlarged angioscotoma|sector or arcuate visual field defects|enlarged blind spot|generalized visual field contraction or constriction|scotoma|scotoma (disease)|enlarged paracaecal scotoma|blind spot area scotoma scotoma (disease) ICD9:368.43|DOID:9335|ICD10:H53.45|MESH:D012607|HP:0000575|ICD9:368.45|ICD9:368.44|ICD10:H53.42|ICD10:H53.43|ICD9:368.42 owl:Class MONDO:0044327 biolink:NamedThing polycystic liver disease 4 with or without kidney cysts An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure. tmpaxzxjjyw_mondo_relaxed.owl polycystic liver disease 4 with or without kidney cysts|PCLD4 OMIM:617875|UMLS:CN818987 owl:Class HGNC:30224 biolink:NamedThing SLC52A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025271 biolink:NamedThing trypanosomiasis, bovine Infection in cattle caused by various species of trypanosomes. tmpaxzxjjyw_mondo_relaxed.owl bovine trypanosomiasis|bovine Trypanosomiases|Trypanosomiases, bovine UMLS:C0041230|MESH:D014354 owl:Class MONDO:0011696 biolink:NamedThing melanoma, uveal, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl UVM2|melanoma, uveal, susceptibility to, type 2|melanoma, uveal, susceptibility to, 2 Orphanet:39044|OMIM:606661 https://github.com/monarch-initiative/mondo/issues/2656 owl:Class MONDO:0007163 biolink:NamedThing episodic ataxia type 2 Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. tmpaxzxjjyw_mondo_relaxed.owl Cerebellopathy, hereditary paroxysmal|CAPA|CACNA1A hereditary episodic ataxia|ataxia, familial paroxysmal|Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia|Acetazolamide-responsive episodic ataxia syndrome|Nystagmus-associated episodic ataxia|episodic ataxia with nystagmus|EA2|cerebellar ataxia, paroxysmal, Acetazolamide-responsive|episodic ataxia, type 2|Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|familial paroxysmal ataxia|episodic ataxia, Nystagmus-associated|ataxia, episodic, with Nystagmus|APCA|hereditary episodic ataxia caused by mutation in CACNA1A|episodic ataxia type 2|ataxia, familial, paroxysmal Orphanet:97|DOID:0050990|GARD:0009602|MESH:C535506|UMLS:C1720416|OMIM:108500|SCTID:420932006|ICD10:G11.8 owl:Class MONDO:0006592 biolink:NamedThing parapsoriasis Parapsoriasis describes a group ofskin diseases that can be characterized by scaly patches or slightly elevated papules and/or plaques (red, scaly patches) that have a resemblance to psoriasis. However, this description includes several inflammatory cutaneous diseases that are unrelated with respect to pathogenesis, histopathology, and response to treatment. Because of the variation in clinical presentation and a lack of a specific diagnostic finding on histopathology, a uniformly accepted definition of parapsoriasis remains lacking. There are 2 general forms: a small plaque type, which is usually benign, and a large plaque type, which is a precursor of cutaneous T-cell lymphoma (CTCL).Treatment of small plaque parapsoriasis is unnecessary but can include emollients, topical tar preparations or corticosteroids, and/or phototherapy. Treatment of large plaque parapsoriasis is phototherapy or topical corticosteroids. tmpaxzxjjyw_mondo_relaxed.owl parapsoriasis en plaque|digitate dermatosis EFO:1000747|DOID:9088|GARD:0007328|SCTID:88233000|ICD10:L41.9|ICD10:L41|UMLS:C0030491|ICD9:696.2|NCIT:C3312|MESH:D010267|Wikipedia:Parapsoriasis https://rarediseases.info.nih.gov/diseases/7328/parapsoriasis owl:Class HGNC:21350 biolink:NamedThing PDHX tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2206 biolink:NamedThing COL4A4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008650 biolink:NamedThing posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. tmpaxzxjjyw_mondo_relaxed.owl Faulk Epstein Jones syndrome|vertebral fusion, POSTERIOR lumbosacral, with blepharoptosis|vertebral fusion posterior lumbosacral blepharoptosis|Faulk-Epstein-Jones syndrome|congenital ptosis and posterior fusion of lumbosacral vertebrae|familial posterior lumbosacral vertebral fusion and eyelid ptosis ICD10:Q87.5|MESH:C536344|GARD:0005487|UMLS:C1860464|GARD:0002276|Orphanet:2064|SCTID:724064004|OMIM:192800 https://rarediseases.info.nih.gov/diseases/2276/faulk-epstein-jones-syndrome owl:Class GO:0044042 biolink:NamedThing glucan metabolic process The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. tmpaxzxjjyw_mondo_relaxed.owl glucan metabolism owl:Class MONDO:0015001 biolink:NamedThing atrial fibrillation, familial, 18 Any familial atrial fibrillation in which the cause of the disease is a mutation in the MYL4 gene. tmpaxzxjjyw_mondo_relaxed.owl MYL4 familial atrial fibrillation|ATFB18|atrial fibrillation, familial, 18|familial atrial fibrillation caused by mutation in MYL4|atrial fibrillation, familial, type 18|atrial fibrillation, familial, 18; ATFB18 UMLS:C4310636|OMIM:617280 owl:Class MONDO:0011530 biolink:NamedThing mesomelic dysplasia, Savarirayan type Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported. tmpaxzxjjyw_mondo_relaxed.owl triangular tibia and fibular aplasia|mesomelic dysplasia Savarirayan type|mesomelic dysplasia, Savarirayan type|triangular tibia-fibular aplasia syndrome|mesomelic dysplasia with absent fibulas and triangular tibias ICD10:Q78.8|GARD:0010584|OMIM:605274|UMLS:C1854470|Orphanet:85170|SCTID:715652002|MESH:C565349 https://rarediseases.info.nih.gov/diseases/10584/mesomelic-dysplasia-savarirayan-type owl:Class MONDO:0100447 biolink:NamedThing ATF6-related retinopathy A retinopathy caused by biallelic variants in the AFT6 gene. tmpaxzxjjyw_mondo_relaxed.owl achromatopsia caused by mutation in ATF6|achromatopsia 7|ATF6 retinopathy|ACHM7|ATF6 achromatopsia|achromatopsia type 7 owl:Class MONDO:0006564 biolink:NamedThing irritant dermatitis An inflammatory skin condition caused by direct contact between the skin and an irritating substance. It is typically manifested by erythema, mild edema, and scaling at the affected site. tmpaxzxjjyw_mondo_relaxed.owl primary irritant dermatitis|irritant contact dermatitis SCTID:110979008|EFO:1000718|MESH:D017453|UMLS:C0162823|NCIT:C27151|ICD10:L24.9|DOID:2772|ICD9:692.9|ICD10:L24 owl:Class HGNC:1699 biolink:NamedThing CD79B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009996 biolink:NamedThing rhizomelic syndrome, Urbach type Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies. tmpaxzxjjyw_mondo_relaxed.owl rhizomelic syndrome|rhizomelic dysplasia, familial|familial rhizomelic dysplasia MESH:C537611|GARD:0004705|ICD10:Q87.1|UMLS:C1849382|Orphanet:3098|OMIM:268250 owl:Class MONDO:0005419 biolink:NamedThing metamphetamine dependence A drug dependence that is a psychological dependency on the regular use of metamphetamine. tmpaxzxjjyw_mondo_relaxed.owl EFO:0004701 owl:Class MONDO:0013508 biolink:NamedThing myopia 19, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl MYP19|myopia 19, autosomal dominant OMIM:613969|UMLS:C3151410 owl:Class UBERON:0003915 biolink:NamedThing endothelial tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009168 biolink:NamedThing purine ribonucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine ribonucleoside monophosphate biosynthesis|purine ribonucleoside monophosphate synthesis|purine ribonucleoside monophosphate formation|purine ribonucleoside monophosphate anabolism owl:Class MONDO:0013134 biolink:NamedThing glaucoma 1, open angle, O Any open-angle glaucoma in which the cause of the disease is a mutation in the NTF4 gene. tmpaxzxjjyw_mondo_relaxed.owl NTF4 open-angle glaucoma|GLC1O|open-angle glaucoma caused by mutation in NTF4|glaucoma 1, open angle, type O|glaucoma 1, open angle, O UMLS:C2751294|OMIM:613100|MESH:C567753 owl:Class MONDO:0100075 biolink:NamedThing jaw fracture A traumatic or pathologic injury to the jaw in which the continuity of the bone is broken. tmpaxzxjjyw_mondo_relaxed.owl upper jaw fracture|lower jaw fracture 2019-02-06 06:57:26+00:00 http://orcid.org/0000-0001-5208-3432 owl:Class UBERON:0035111 biolink:NamedThing medial plantar nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100161 biolink:NamedThing hyperkalemic renal tubular acidosis Renal tubular acidosis (RTA) that is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. tmpaxzxjjyw_mondo_relaxed.owl hyperkalemic RTA|type 4 renal tubular acidosis|renal tubular acidosis type 4|type 4 RTA Orphanet:89939 http://orcid.org/0000-0001-5208-3432 owl:Class PO:0009002 biolink:NamedThing plant cell A cell which is a plant structure (PO:0009011). tmpaxzxjjyw_mondo_relaxed.owl cell (broad)|célula vegetal (Spanish, exact)|植物細胞 (Japanese, exact) GO:0005623|PO_GIT:56 Applies to cells that are living or dead at maturity (e.g., fiber cell or tracheid) and includes any external encapsulating structures (if present) such as the plasma membrane and the plant-type cell wall. Definition of cell GO:0005623: "The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope". GO:0009505. Definition of plant-type cell wall (GO:0009505): A more or less rigid structure lying outside the cell membrane of a cell and composed of cellulose and pectin and other organic and inorganic substances, synonym; exact: cellulose and pectin-containing cell wall. plant_anatomy owl:Class UBERON:0003366 biolink:NamedThing epithelium of uterine horn tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016996 biolink:NamedThing NK-cell enteropathy Natural killer (NK)-cell enteropathy is a benign NK-cell lymphoproliferative disease characterized by minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4509932|ICD10:K63.8|SCTID:723496007|Orphanet:263665 Editor note: TODO - complete axioms owl:Class MONDO:0012751 biolink:NamedThing aortic aneurysm, familial abdominal, 3 tmpaxzxjjyw_mondo_relaxed.owl AAA3|aortic aneurysm, familial abdominal, 3 Orphanet:86|OMIM:611891|MESH:C567501|UMLS:C2678470 owl:Class MONDO:0011644 biolink:NamedThing pars planitis An inflammatory disorder of the cilliary body in the uvea that affects healthy, younger individuals who are often asymptomatic. It has a long clinical course with relapses and remissions. Symptoms include mildly decreased vision and floaters. It may be associated with autoimmune disorders. tmpaxzxjjyw_mondo_relaxed.owl pars plana of ciliary bodyitis|inflammation of pars plana of ciliary body|peripheral retinal inflammation|pars planitis|familial pars planitis (subtype)|posterior cyclitis|pars plana of ciliary body inflammation DOID:12731|EFO:1001088|GARD:0007339|UMLS:C0030593|MedDRA:10034052|ICD10:H30.2|ICD9:363.21|NCIT:C34903|SCTID:314428001|MESH:D015868|OMIM:606177 owl:Class MONDO:0044631 biolink:NamedThing early-onset familial noncirrhotic portal hypertension tmpaxzxjjyw_mondo_relaxed.owl Orphanet:494348 owl:Class MONDO:0014005 biolink:NamedThing immunoglobulin-mediated membranoproliferative glomerulonephritis Glomerulonephritis characterized by mesangial proliferation, endocapillary proliferation, and glomerular capillary wall remodeling with immune complex deposits from classical complement pathway activation. tmpaxzxjjyw_mondo_relaxed.owl immunoglobulin-mediated membranoproliferative glomerulonephritis|Ig-mediated membranoproliferative glomerulonephritis|Ahus, susceptibility to, 7|hemolytic uremic syndrome, atypical, susceptibility to, 7|NPHS7|nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis|membranoproliferative glomerulonephritis type I|Ig-mediated MPGN|nephrotic syndrome, type 7|Immunoglobulin-mediated MPGN|Mesangiocapillary glomerulonephritis type 1|immune Complex mediated membranoproliferative glomerulonephritis ICD10:N00.5|Orphanet:329903|Orphanet:2134|Orphanet:54370|Orphanet:357008|OMIM:615008|NCIT:C123055 owl:Class UBERON:0004218 biolink:NamedThing lower leg nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003144 biolink:NamedThing medulloepithelioma A rare, usually aggressive malignant embryonal neoplasm of the central nervous system occurring in children. It is characterized by the presence of neuroepithelial cells which form papillary, trabecular, or tubular structures and absence of C19MC amplification. Symptoms include headache, nausea, and vomiting. tmpaxzxjjyw_mondo_relaxed.owl medulloepithelioma NOS (morphologic abnormality)|central nervous system medulloepithelioma|Diktyoma, malignant|MDEP|medulloepithelioma of the central nervous system|medulloepithelioma, central nervous system DOID:4790|UMLS:C0334596|SCTID:715903004|Orphanet:251883|ONCOTREE:MDEP|NCIT:C4327 owl:Class ENVO:09200001 biolink:NamedThing temperature of air The temperature of some air. tmpaxzxjjyw_mondo_relaxed.owl air temperature owl:Class MONDO:0023050 biolink:NamedThing ectrodactyly cardiopathy dysmorphism tmpaxzxjjyw_mondo_relaxed.owl Van Den Ende Brunner syndrome|ectrodactyly of lower limbs, congenital heart defect and characteristic facies GARD:0002063|MESH:C536187|UMLS:C2931127 https://rarediseases.info.nih.gov/diseases/2063/ectrodactyly-cardiopathy-dysmorphism owl:Class MONDO:0007561 biolink:NamedThing multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission. tmpaxzxjjyw_mondo_relaxed.owl multiple epiphyseal dysplasia, Comp-related|Polyepiphyseal dysplasia type 1|multiple epiphyseal dysplasia 1|epiphyseal dysplasia, multiple, type 1|COMP multiple epiphyseal dysplasia (disease)|multiple epiphyseal dysplasia (disease) caused by mutation in COMP|multiple epiphyseal dysplasia COMP-related|EDM1|epiphyseal dysplasia, Fairbank type|epiphyseal dysplasia, multiple, 1|epiphyseal dysplasia multiple 1|MED1|epiphyseal dysplasia, ribbing type UMLS:C1838280|SCTID:715673002|OMIM:132400|ICD10:Q77.3|Orphanet:93308|GARD:0002180|UMLS:C4275061|DOID:0070303 https://rarediseases.info.nih.gov/diseases/2180/multiple-epiphyseal-dysplasia-1 owl:Class MONDO:0022887 biolink:NamedThing craniofrontonasal syndrome Teebi type tmpaxzxjjyw_mondo_relaxed.owl GARD:0001579 https://rarediseases.info.nih.gov/diseases/1579/craniofrontonasal-syndrome-teebi-type owl:Class CHEBI:36309 biolink:NamedThing cyclic tetrapyrrole tmpaxzxjjyw_mondo_relaxed.owl macrocyclic tetrapyrroles|cyclic tetrapyrroles|macrocyclic tetrapyrrole owl:Class GO:1903999 biolink:NamedThing negative regulation of eating behavior Any process that stops, prevents or reduces the frequency, rate or extent of eating behavior. tmpaxzxjjyw_mondo_relaxed.owl inhibition of eating behaviour|inhibition of eating behavior|down regulation of eating behaviour|downregulation of eating behaviour|negative regulation of eating behaviour|down-regulation of eating behavior|downregulation of eating behavior|down regulation of eating behavior|down-regulation of eating behaviour owl:Class MONDO:0001127 biolink:NamedThing tibialis tendinitis A tendinitis that involves the tibialis. tmpaxzxjjyw_mondo_relaxed.owl tibialis tendinitis|tendinitis of tibialis UMLS:C0158321|ICD9:726.72|SCTID:50127006|DOID:10810 owl:Class MONDO:0001936 biolink:NamedThing brawny scleritis tmpaxzxjjyw_mondo_relaxed.owl DOID:14287|SCTID:91612009|ICD10:H15.02|ICD9:379.06|UMLS:C0155356 owl:Class MONDO:0001804 biolink:NamedThing anterior scleritis tmpaxzxjjyw_mondo_relaxed.owl ICD10:H15.01|UMLS:C0155353|ICD9:379.03|SCTID:63454000|DOID:13794 owl:Class MONDO:0060491 biolink:NamedThing neurodevelopmental disorder with involuntary movements tmpaxzxjjyw_mondo_relaxed.owl NEDIM|neurodevelopmental disorder with involuntary movements OMIM:617493 Editor note: todo - check orphanet xref owl:Class HGNC:25302 biolink:NamedThing COQ9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008200 biolink:NamedThing autosomal dominant Parkinson disease 1 tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant Parkinson disease type 1|Parkinson disease 1, autosomal dominant|autosomal dominant Parkinson's disease 1|Parkinson disease 1, autosomal dominant Lewy body|PARK1|atypical Parkinson disease|autosomal dominant Parkinson disease 1 MESH:C566823|OMIM:168601|Orphanet:171695|DOID:0060367|Orphanet:411602 Editor note: DO def states any mutation in SNCA, but this would include PARK4; def needs to state that this is het mutation owl:Class MONDO:0017153 biolink:NamedThing pulmonary arterial hypertension associated with HIV infection Pulmonary arterial hypertension (PAH) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection. tmpaxzxjjyw_mondo_relaxed.owl PAH associated with HIV infaction 2022-03-01 UMLS:C3697673|Orphanet:275808|SCTID:697904001|ICD10:I27.2|EFO:0009194|ICD9:416.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class MONDO:0700088 biolink:NamedThing paroxysmal nonkinesigenic dyskinesia Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia, characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation. tmpaxzxjjyw_mondo_relaxed.owl Paroxysomal nonkinesigenic dyskinesia|paroxysmal non-kinesigenic dyskinesia|DYT-MR-1|Paroxystic non-kinesigenic choreoathetosis GARD:0008722|Orphanet:98810 http://orcid.org/0000-0002-4142-7153 owl:Class HP:0010919 biolink:NamedThing Abnormal circulating homocysteine concentration An abnormality of a homocysteine metabolic process. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023651 peter 2010-12-11T11:48:52Z human_phenotype owl:Class HP:0004339 biolink:NamedThing Abnormal circulating sulfur amino acid concentration Any deviation from the normal concentration of a sulfur amino acid in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl Abnormal circulating sulphur amino acid concentration|Abnormality of sulfur-containing amino acids UMLS:C4021660 Cysteine and methionine contain a sulfur atom. peter 2008-03-08T08:01:00Z human_phenotype owl:Class MONDO:0005859 biolink:NamedThing mucocutaneous leishmaniasis The most common form of leishmaniasis that is transmitted through the bite of female phlebotomine sand flies or after exposure to leishmania parasites. It is characterized by skin lesions at the site of insect bite which typically develop within weeks or months after exposure. The lesions typically progress from small papules to open sores with raised borders and central ulcers which can be covered with scales or crust. tmpaxzxjjyw_mondo_relaxed.owl New World cutaneous leishmaniasis|American mucocutaneous leishmaniasis|cutaneous leishmaniasis, American|mucocutaneous leishmaniasis, American|mucocutaneous leishmaniasis, (American)|American cutaneous leishmaniasis EFO:0007379|MESH:D007897|UMLS:C3495436|ICD9:085.5|UMLS:C1328252|ICD10:B55.2|DOID:9155|NCIT:C34769 owl:Class HP:0003355 biolink:NamedThing Aminoaciduria An increased concentration of an amino acid in the urine. tmpaxzxjjyw_mondo_relaxed.owl Increased levels of animo acids in urine|Abnormal urinary amino-acid findings|High urine amino acid levels|Hyperaminoaciduria UMLS:C0238621|UMLS:C4020843|SNOMEDCT_US:35912001 HP:0200014|HP:0008335|HP:0002903 human_phenotype owl:Class MONDO:0007645 biolink:NamedThing gastric sneezing tmpaxzxjjyw_mondo_relaxed.owl stomach sneeze reflex|gastric sneezing 2022-04-01 MESH:C564990|UMLS:C1850930|OMIM:137130 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0001999 biolink:NamedThing primary pulmonary hypertension Increased blood pressure in the arteries of the lungs; the etiology is unknown. tmpaxzxjjyw_mondo_relaxed.owl primary pulmonary hypertension|pulmonary hypertension, primary ICD9:416.0|OMIM:265400|OMIM:615344|Orphanet:422|DOID:14557|ICD10:I27.0|OMIM:615343|OMIM:615342|NCIT:C97119|OMIM:178600 owl:Class MONDO:0007857 biolink:NamedThing keratosis palmaris et plantaris-clinodactyly syndrome Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl palmoplantar keratoderma-clinodactyly syndrome|keratosis palmaris ET plantaris with clinodactyly ICD10:Q82.8|OMIM:148520|MESH:C563646|Orphanet:86919|UMLS:C1835663 owl:Class MONDO:0005942 biolink:NamedThing Reye syndrome An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use. tmpaxzxjjyw_mondo_relaxed.owl Reye's syndrome NCIT:C34983|ICD10:G93.7|ICD9:331.81|GARD:0007570|UMLS:C0035400|Orphanet:3096|MESH:D012202|MedDRA:10039012|EFO:0007467|DOID:14525|SCTID:74351001 https://github.com/monarch-initiative/mondo/issues/3608 owl:Class HGNC:3226 biolink:NamedThing EFNB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001555 biolink:NamedThing neonatal thyrotoxicosis A hypermetabolic syndrome characterized by tachycardia, palpitations, tremor, weight loss, and moist skin that is caused by the elevation of thyroid hormone levels in the serum of the newborn infant or thyroid-axis receptor activation, most commonly due to transplacental passage of thyroid stimulating globulins. tmpaxzxjjyw_mondo_relaxed.owl infantile hyperthyroidism DOID:12573|ICD10:P72.1|UMLS:C0158983|ICD9:775.3|SCTID:13795004|NCIT:C114906 owl:Class MONDO:0010138 biolink:NamedThing thyrotoxicosis A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. tmpaxzxjjyw_mondo_relaxed.owl hyperthyroidism, autoimmune|thyrotoxicosis|Graves disease, susceptibility to, 1|Grd|GRD1 SCTID:90739004|ICD9:242.80|ICD9:242|MESH:D013971|ICD9:242.90|DOID:7997|NCIT:C61469|UMLS:C0040156|OMIM:275000|ICD10:E05.9|EFO:0009190 Editor note: TODO separate out predisposition owl:Class MONDO:0022916 biolink:NamedThing cystic hygroma lethal cleft palate tmpaxzxjjyw_mondo_relaxed.owl Cowchock Wapner Kurtz syndrome GARD:0001653 https://rarediseases.info.nih.gov/diseases/1653/cystic-hygroma-lethal-cleft-palate owl:Class NCBITaxon:12663 biolink:NamedThing Feline coronavirus tmpaxzxjjyw_mondo_relaxed.owl FECV|Feline enteric coronavirus|Feline enteric coronavirus FECV GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:810 biolink:NamedThing Chlamydia tmpaxzxjjyw_mondo_relaxed.owl Chlamydophila|Miyagawanella|Rickettsiaformis|Bedsonia|"Prowazekia" Coles 1953|Rakeia PMID:9103637|PMID:10319462|PMID:11211265|PMID:21048221|PMID:25618261|PMID:23620152|PMID:21048222|GC_ID:11|PMID:9103632 NCBITaxon:83553 ncbi_taxonomy owl:Class UBERON:0011135 biolink:NamedThing intervertebral cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001328 biolink:NamedThing lobe of prostate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011563 biolink:NamedThing fibromatosis, gingival, 2 tmpaxzxjjyw_mondo_relaxed.owl fibromatosis gingival, hereditary, 2|GGF2|fibromatosis, gingival, hereditary, 2|gingival fibromatosis, 2|hereditary gingival fibromatosis, 2|HGF2|fibromatosis, gingival, 2|GINGF2 MESH:C565323|Orphanet:2024|GARD:0002474|OMIM:605544 owl:Class MONDO:0002903 biolink:NamedThing articulation disorder A disorder characterized by the failure to use developmentally expected speech sounds that are appropriate for the individual's age (i.e., the individual makes errors in sound production or use or omits sounds such as final consonants). tmpaxzxjjyw_mondo_relaxed.owl articulation impairment|phonological disorder ICD9:315.39|SCTID:386701004|DOID:4186|NCIT:C92564|MESH:D001184 owl:Class MONDO:0054869 biolink:NamedThing nondystrophic myotonia tmpaxzxjjyw_mondo_relaxed.owl NDM MESH:C536245|GARD:0009852 owl:Class GO:0051668 biolink:NamedThing localization within membrane Any process in which a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within a membrane. tmpaxzxjjyw_mondo_relaxed.owl establishment and maintenance of position in membrane|positioning within membrane|localisation within membrane|localization to membrane|establishment and maintenance of localization in membrane owl:Class MONDO:0005325 biolink:NamedThing radius fracture Traumatic or pathological injury to the radius bone in which the continuity of the bone is broken. tmpaxzxjjyw_mondo_relaxed.owl MESH:D011885|EFO:0003957|NCIT:C99039|SCTID:12676007 owl:Class HGNC:2861 biolink:NamedThing DHFR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054723 biolink:NamedThing spermatogenic failure 19 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 19|SPGF19 OMIM:617592|DOID:0070170 owl:Class HGNC:6006 biolink:NamedThing IL21R tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022998 biolink:NamedThing distal arthrogryposis Moore weaver type tmpaxzxjjyw_mondo_relaxed.owl Moore Weaver syndrome UMLS:C2931342|MESH:C536814 owl:Class MONDO:0060768 biolink:NamedThing gingival fibroepithelial polyp A non-neoplastic nodular lesion that arises from the gingiva. It is composed of epithelial cells lining connective tissue stroma. tmpaxzxjjyw_mondo_relaxed.owl gum fibroepithelial polyp|fibroepithelial polyp of the gingiva|fibroepithelial polyp of gingiva|gingival fibroepithelial polyp|fibroepithelial polyp of gum|fibroepithelial polyp of the gum UMLS:C0399441|NCIT:C4693|SCTID:235001002 owl:Class MONDO:0033542 biolink:NamedThing immunodeficiency 70 tmpaxzxjjyw_mondo_relaxed.owl IMMUNODEFICIENCY 70|IMD70 OMIM:618969 owl:Class MONDO:0032779 biolink:NamedThing neurodevelopmental disorder with microcephaly and structural brain anomalies tmpaxzxjjyw_mondo_relaxed.owl NEDMIBA|NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES OMIM:618492 owl:Class GO:0001067 biolink:NamedThing transcription regulatory region nucleic acid binding Binding to a nucleic acid region that regulates a nucleic acid-based process. Such processes include transcription, DNA replication, and DNA repair. tmpaxzxjjyw_mondo_relaxed.owl regulatory region nucleic acid binding owl:Class MONDO:0019558 biolink:NamedThing discoid lupus erythematosus A chronic, autoimmune skin condition that manifests with a red, scaling rash, most often found on the face, ears, and scalp; these lesions often lead to permanent scarring and dyspigmentation. Patients may have lesions with or without other symptoms or antibodies suggestive of systemic lupus erythematosus (SLE). tmpaxzxjjyw_mondo_relaxed.owl DLE MESH:D008179|Orphanet:90281|UMLS:C0024138|NCIT:C26820|SCTID:200938002|MedDRA:10013072|ICD10:L93.0 owl:Class HGNC:13672 biolink:NamedThing KLF13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034730 biolink:NamedThing olfactory tract linking bulb to ipsilateral dorsal telencephalon tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0031650 biolink:NamedThing Abnormal atrioventricular valve physiology Any functional defect of the mitral or tricuspid valve. tmpaxzxjjyw_mondo_relaxed.owl 2017-12-17 15:17:45+00:00 peter human_phenotype owl:Class MONDO:0016614 biolink:NamedThing autosomal recessive ataxia due to PEX10 deficiency tmpaxzxjjyw_mondo_relaxed.owl mild peroxismal disorder due to PEX10 deficiency ICD10:G11.8|UMLS:CN201819|Orphanet:247815 Editor note: TODO add gene owl:Class MONDO:0011709 biolink:NamedThing split hand-foot malformation 5 Split-hand/foot malformation mapped to chromosome 2q31. tmpaxzxjjyw_mondo_relaxed.owl split-hand/foot malformation 5|split-hand/foot malformation type 5|split hand-foot malformation type 5|SHFM5 MESH:C564674|ICD10:Q71.6|OMIM:606708|DOID:0090022|Orphanet:2440|UMLS:C0265554|NCIT:C75002|UMLS:C1847622 owl:Class MONDO:0013611 biolink:NamedThing retinitis pigmentosa 62 Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene. tmpaxzxjjyw_mondo_relaxed.owl RP62|retinitis pigmentosa caused by mutation in MAK|retinitis pigmentosa type 62|retinitis pigmentosa 62|MAK retinitis pigmentosa ICD10:H35.5|DOID:0110380|OMIM:614181|UMLS:C3280042 owl:Class GO:0051928 biolink:NamedThing positive regulation of calcium ion transport Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of calcium ion transport|activation of calcium ion transport|positive regulation of calcium transport|up regulation of calcium ion transport|upregulation of calcium ion transport|stimulation of calcium ion transport owl:Class MONDO:0004057 biolink:NamedThing micropapillary variant infiltrating bladder urothelial carcinoma An infiltrating bladder transitional cell carcinoma exhibiting micropapillary growth pattern. -- 2003 tmpaxzxjjyw_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, micropapillary variant UMLS:C1517579|DOID:6976|NCIT:C27202|EFO:0008512 owl:Class MONDO:0060650 biolink:NamedThing Leber congenital amaurosis with early-onset deafness tmpaxzxjjyw_mondo_relaxed.owl LCAEOD|Leber congenital amaurosis with early-onset deafness OMIM:617879|UMLS:CN807950 owl:Class MONDO:0009056 biolink:NamedThing cutis verticis gyrata and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl cutis verticis gyrata-intellectual disability syndrome|CVG/MR|cutis verticis gyrata and mental retardation|cutis verticis gyrata and intellectual disability Orphanet:1557|UMLS:C1857444|OMIM:219300 owl:Class MONDO:0015845 biolink:NamedThing uterine cervical aplasia and agenesis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:180145|ICD10:Q51.5 owl:Class HP:0002160 biolink:NamedThing Hyperhomocystinemia An increased concentration of homocystine in the blood. tmpaxzxjjyw_mondo_relaxed.owl Homocystinemia|Elevated blood homocystine UMLS:C3806347 Homocystine is a disulfide derivative of homocysteine (a precursor of cysteine). Hyperhomocystinemic patients show blood homocystine levels in the range of 50-200 micromolar. human_phenotype owl:Class MONDO:0016143 biolink:NamedThing qualitative or quantitative defects of gamma-sarcoglycan tmpaxzxjjyw_mondo_relaxed.owl gamma-sarcoglycanopathy Orphanet:207067 owl:Class MONDO:0008979 biolink:NamedThing chorea, benign familial Benign hereditary chorea (BHC) is a rare movement disorder that beginsin infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can havenormal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion. tmpaxzxjjyw_mondo_relaxed.owl chorea familial benign|benign hereditary chorea|chorea, benign familial UMLS:C1859098|MESH:C565851|GARD:0001305|OMIM:118700|Orphanet:1429|OMIM:215450 https://rarediseases.info.nih.gov/diseases/1305/benign-hereditary-chorea owl:Class MONDO:0017980 biolink:NamedThing syngnathia multiple anomalies tmpaxzxjjyw_mondo_relaxed.owl syngnathia-multiple anomalies syndrome Orphanet:3262|GARD:0005092 https://rarediseases.info.nih.gov/diseases/5092/syngnathia-multiple-anomalies owl:Class CHEBI:26191 biolink:NamedThing polyol A compound that contains two or more hydroxy groups. tmpaxzxjjyw_mondo_relaxed.owl polyols owl:Class MONDO:0011009 biolink:NamedThing muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers MESH:C563378|OMIM:601170|UMLS:C1832665 owl:Class MONDO:0019849 biolink:NamedThing isolated micropenis tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q55.6|Orphanet:95707 owl:Class MONDO:0006889 biolink:NamedThing paraphimosis A condition in which the foreskin of an uncircumcised male is retracted and cannot be pulled back over the glans penis. It results in painful swelling of the glans penis and, if is not corrected, may lead to gangrene. tmpaxzxjjyw_mondo_relaxed.owl DOID:5334|NCIT:C34893|SCTID:13758004|ICD10:N47.2|EFO:1001086|UMLS:C0030483|MedDRA:10033890|MESH:D010263 owl:Class MONDO:0002667 biolink:NamedThing gallbladder signet ring cell adenocarcinoma An adenocarcinoma that arises from the gallbladder. It is characterized by the presence of signet ring malignant epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl signet Ring cell carcinoma of gallbladder|gallbladder signet Ring cell carcinoma|signet Ring cell carcinoma of the gallbladder|gall bladder signet ring cell carcinoma NCIT:C5745|UMLS:C1333758|DOID:3499 owl:Class UBERON:0012486 biolink:NamedThing muscle layer of cloaca tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044619 biolink:NamedThing propylthiouracil embryofetopathy Propylthiouracil embryofetopathy is a rare teratologic disease characterized by variable congenital anomalies resulting from maternal treatment and prenatal exposure to propylthiouracil. Anomalies frequently encountered include ear malformations (e.g. accessory auricle, preauricular sinus/fistula/cyst), urinary system malformations (e.g. isolated unilateral kidney, congenital hydronephrosis), gastrointestinal anomalies (e.g. congenital bands with intestinal malrotation) and cardiac defects (e.g. situs inversus dextrocardia, cardiac outflow tract defects). tmpaxzxjjyw_mondo_relaxed.owl PTU embryopathy|PTU embryofetopathy|propylthiouracil embryopathy Orphanet:485358 owl:Class MONDO:0018589 biolink:NamedThing AApoAIV amyloidosis tmpaxzxjjyw_mondo_relaxed.owl apolipoprotein A-IV amyloidosis Orphanet:439232|ICD10:E85.8 owl:Class MONDO:0018445 biolink:NamedThing global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome tmpaxzxjjyw_mondo_relaxed.owl glow syndrome UMLS:CN226190|Orphanet:404476|ICD10:Q87.3 owl:Class MONDO:0010525 biolink:NamedThing neural tube defects, X-linked tmpaxzxjjyw_mondo_relaxed.owl spina bifida, X-linked|neural tube defects, X-linked|anencephaly and spina bifida X-linked|X-linked anencephaly/spina bifida Orphanet:268357|GARD:0000669|MESH:C536359|UMLS:C1845026|OMIM:301410|Orphanet:823 https://rarediseases.info.nih.gov/diseases/669/anencephaly-and-spina-bifida-x-linked owl:Class NCBITaxon:2682482 biolink:NamedThing Mastigamoebida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:555406 biolink:NamedThing Archamoebae tmpaxzxjjyw_mondo_relaxed.owl PMID:23020233|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000750 biolink:NamedThing dental abscess A tooth disease characterized by a localized collection of pus associated with a tooth. tmpaxzxjjyw_mondo_relaxed.owl ICD10:K04.6|SCTID:299709002|UMLS:C0518988|DOID:0060324 owl:Class MONDO:0013570 biolink:NamedThing combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, hypertrophic mitochondrial, fatal infantile|combined oxidative phosphorylation deficiency type 8|combined oxidative phosphorylation deficiency 8|combined oxidative phosphorylation deficiency caused by mutation in AARS2|AARS2 combined oxidative phosphorylation deficiency|COXPD8 UMLS:C4518839|SCTID:733600007|Orphanet:319504|ICD10:I42.2|DOID:0111479|UMLS:C3279793|OMIM:614096 owl:Class MONDO:0032777 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 10 tmpaxzxjjyw_mondo_relaxed.owl Gefs+, Type 10|GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10|GEFSP10 DOID:0111296|OMIM:618482 owl:Class MONDO:0004817 biolink:NamedThing non-secretory plasma cell myeloma A rare type of multiple myeloma in which the plasma cells synthesize but do not secrete immunoglobulins. As a result, none of the immunoglobulins appear out of the normal range. The symptoms are generally the same with those of immunoglobulin-secreting myeloma; however, the incidence of renal insufficiency is lower in non-secretory myeloma. The diagnosis can be missed because of the absence of monoclonal immunoglobulin in the serum or urine. tmpaxzxjjyw_mondo_relaxed.owl non-functioning myeloma|non-secretory myeloma|non-secretory multiple myeloma|non-secretory plasma cell myeloma|non-secreting myeloma NCIT:C4734|DOID:9547|SCTID:277580004|UMLS:C0456845|UMLS:C3898125 owl:Class HP:0000625 biolink:NamedThing Eyelid coloboma A short discontinuity of the margin of the lower or upper eyelid. tmpaxzxjjyw_mondo_relaxed.owl Cleft eyelid|Eyelid coloboma|Notched eyelid|Full thickness defect of the eyelid UMLS:C0521573|SNOMEDCT_US:95202004 The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral. human_phenotype owl:Class HP:0011226 biolink:NamedThing Aplasia/Hypoplasia of the eyelid Absence or underdevelopment of the eyelid. tmpaxzxjjyw_mondo_relaxed.owl Hypotrophic eyelid|Failure of development of eyelid UMLS:C4023453 peter 2011-12-13T08:38:23Z human_phenotype owl:Class UBERON:0011277 biolink:NamedThing nail of manual digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009128 biolink:NamedThing dwarfism, intellectual disability, and eye abnormality tmpaxzxjjyw_mondo_relaxed.owl dwarfism, intellectual disability, and eye abnormality|dwarfism, mental retardation, and eye abnormality|Mollica syndrome Orphanet:2650|MESH:C535809|OMIM:223540|UMLS:C0796076 owl:Class HP:0002715 biolink:NamedThing Abnormality of the immune system An abnormality of the immune system. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the immune system|Immunological abnormality UMLS:C4021753 The immune system is composed of organs and interdependent cell types that collectively protect the body from infections and from the growth of tumor cells. The organs of the immune system comprise the bone marrow, the spleen, the thymus,the lymph nodes, and the cell types comprise B cells, T cells, natural killer cells, granulocytes,dendritic cells, and macrophages. HP:0003346|HP:0003257|HP:0010986 human_phenotype owl:Class UBERON:0035764 biolink:NamedThing pulmonary lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004766 biolink:NamedThing status asthmaticus An acute exacerbation of asthma, characterized by inadequate response to initial bronchodilators. tmpaxzxjjyw_mondo_relaxed.owl asthma with status asthmaticus|severe asthma attack MESH:D013224|DOID:9362|ICD10:J46|SCTID:708090002|ICD9:493.91|EFO:0008590|UMLS:C0038218|NCIT:C122577 owl:Class MONDO:0007489 biolink:NamedThing dysplasia epiphysealis hemimelica Dysplasia epiphysealis hemimelica (DEH), or Trevor's disease, is a rare condition that most commonly affects the epiphysis (the end) of long bones in children. Early diagnosis and treatment are necessary to prevent joint dysfunction and deformity and may be surgical or non-surgical depending on the location and the symptoms. Due to the progressive nature of this disorder and the chance of worsening deformity, patients should be followed until skeletal maturity. The cause of dysplasia epiphysealis hemimelica is not known. tmpaxzxjjyw_mondo_relaxed.owl Trevor disease|dysplasia epiphysealis hemimelica UMLS:C0432282|OMIM:127800|ICD10:Q74.8|ICD9:756.59|MESH:C537997|GARD:0002019|SCTID:205480005|Orphanet:1822 https://rarediseases.info.nih.gov/diseases/2019/dysplasia-epiphysealis-hemimelica owl:Class MONDO:0023102 biolink:NamedThing facio skeletal genital syndrome rippberger type tmpaxzxjjyw_mondo_relaxed.owl Ripperger Aase syndrome GARD:0002227 https://rarediseases.info.nih.gov/diseases/2227/facio-skeletal-genital-syndrome-rippberger-type owl:Class MONDO:0016431 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2M Autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) is a form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital pstosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia. tmpaxzxjjyw_mondo_relaxed.owl CMT2M SCTID:719514002|UMLS:C4304672|Orphanet:228179|OMIM:606482|ICD10:G60.0|UMLS:CN201389 owl:Class UBERON:0007778 biolink:NamedThing umbilical artery endothelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:768 biolink:NamedThing Anaplasma tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:11760958 ncbi_taxonomy owl:Class MONDO:0100291 biolink:NamedThing early T cell progenitor acute lymphoblastic leukemia T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation. tmpaxzxjjyw_mondo_relaxed.owl ETP-ALL|early T-cell precursor lymphoblastic leukemia|early T acute lymphoblastic leukemia|early T-cell precursor acute lymphoblastic leukemia|ETP ALL UMLS:C4329780|NCIT:C130043 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2763 owl:Class MONDO:0001770 biolink:NamedThing gastrin secretion abnormality tmpaxzxjjyw_mondo_relaxed.owl ICD9:251.5|UMLS:C0000774|DOID:13656|SCTID:47344007 owl:Class CL:0000703 biolink:NamedThing sustentacular cell Cell that provides some or all mechanical, nutritional and phagocytic support to their neighbors. tmpaxzxjjyw_mondo_relaxed.owl BTO:0002315 cell owl:Class MONDO:0002478 biolink:NamedThing mixed germ cell-sex cord-stromal tumor A biphasic neoplasm that arises from the ovary or the testis. It is characterized by the presence of neoplastic germ cells and neoplastic sex cord-stromal cells. It includes the gonadoblastoma and mixed germ cell-sex cord stromal tumor, unclassifiable. tmpaxzxjjyw_mondo_relaxed.owl mixed germ cell-sex cord-stromal tumor (morphologic abnormality)|mixed germ cell-Sex cord tumor|mixed germ cell-Sex cord-stromal tumor|mixed germ cell-Sex cord-stromal neoplasm|mixed germ cell-Sex cord neoplasm NCIT:C5241|DOID:2996|UMLS:C1321220 owl:Class MONDO:0005189 biolink:NamedThing internal carotid artery stenosis Carotid stenosis is a narrowing or constriction of the inner surface (lumen) of the carotid artery, usually caused by atherosclerosis. The internal carotid artery supplies the brain. Plaque often builds up at that division, and causes a narrowing (stenosis). Pieces of plaque can break off and block the small arteries above in the brain, which causes a stroke. Plaque can also build up at the origin of the carotid artery at the aorta. tmpaxzxjjyw_mondo_relaxed.owl SCTID:233964008|Wikipedia:Carotid_artery_stenosis|EFO:0002615|ICD9:433.10 owl:Class MONDO:0005892 biolink:NamedThing otitis media with effusion Otitis media associated with accumulation of fluid in the middle ear. tmpaxzxjjyw_mondo_relaxed.owl secretory otitis Media|serous otitis Media|OME NCIT:C34886|SCTID:78868004|ICD9:381.29|ICD9:381.20|MESH:D010034|EFO:0007415 owl:Class HGNC:2180 biolink:NamedThing COCH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022330 biolink:NamedThing 4-hydroxyphenylacetic aciduria tmpaxzxjjyw_mondo_relaxed.owl MESH:C535315|GARD:0008155 https://rarediseases.info.nih.gov/diseases/8155/4-hydroxyphenylacetic-aciduria owl:Class MONDO:0007127 biolink:NamedThing diffuse idiopathic skeletal hyperostosis This syndrome is characterized by the association of ankylosing vertebral hyperostosis with hyperkeratosis of the soles and palms. tmpaxzxjjyw_mondo_relaxed.owl Forestier's disease|diffuse idiopathic skeletal hyperostosis|ankylosing vertebral hyperostosis with tylosis|Forestier disease|ankylosing vertebral hyperostosis|disseminated idiopathic skeletal hyperostosis|dish Orphanet:2206|UMLS:C0020498|NCIT:C84671|ICD9:733.99|SCTID:31487001|DOID:6652|ICD10:M48.1|OMIM:106400|EFO:0007236|ICD9:721.6|GARD:0000842|MESH:D004057 owl:Class MONDO:0011287 biolink:NamedThing craniosynostosis-anal anomalies-porokeratosis syndrome Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S). tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis, anal anomalies, and porokeratosis|CAP syndrome|craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations|CDAGS syndrome|Cap syndrome GARD:0009506|ICD10:Q87.8|OMIM:603116|Orphanet:85199|SCTID:720812002|MESH:C536789 owl:Class MONDO:0003347 biolink:NamedThing inflammatory leiomyosarcoma A morphologic variant of leiomyosarcoma characterized by the presence of an inflammatory infiltrate admixed with malignant spindle cells. tmpaxzxjjyw_mondo_relaxed.owl inflammatory leiomyosarcoma NCIT:C27495|DOID:5251|UMLS:C1334179 owl:Class MONDO:0004043 biolink:NamedThing ureter inverted papilloma A neoplasm of the ureter in which the epithelial cells grow downward into the underlying supportive tissue, which often causes hematuria. tmpaxzxjjyw_mondo_relaxed.owl inverted papilloma of the ureter|ureteral inverted papilloma|ureter inverted papilloma|inverted papilloma of ureter UMLS:C1336874|NCIT:C6174|DOID:6935 owl:Class MONDO:0017413 biolink:NamedThing Reunion island Larsen syndrome tmpaxzxjjyw_mondo_relaxed.owl RLS|multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome EFO:0002319|Orphanet:294049|ICD10:Q74.8|UMLS:CN203163 owl:Class NCIT:C16203 biolink:NamedThing Clinical or Research Activity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003329 biolink:NamedThing ureteral obstruction Blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as hydronephrosis and obstructive nephropathy. tmpaxzxjjyw_mondo_relaxed.owl ureteral obstruction|ureteral obstruction (disease) ureteral obstruction (disease) HP:0006000|ICD9:593.4|SCTID:20018005|MESH:D014517|DOID:5199 owl:Class HGNC:9986 biolink:NamedThing RFX5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060583 biolink:NamedThing platelet abnormalities with eosinophilia and immune-mediated inflammatory disease tmpaxzxjjyw_mondo_relaxed.owl platelet abnormalities with eosinophilia and immune-mediated inflammatory disease|PLTEID OMIM:617718|UMLS:C4540232 owl:Class MONDO:0022890 biolink:NamedThing craniosynostosis Fontaine type tmpaxzxjjyw_mondo_relaxed.owl GARD:0001595 https://rarediseases.info.nih.gov/diseases/1595/craniosynostosis-fontaine-type owl:Class MONDO:0012418 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 62 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 12p13.2-p11.23. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 62|autosomal recessive nonsyndromic deafness 62|DFNB62|autosomal recessive deafness 62|deafness, autosomal recessive 62 DOID:0110514|UMLS:C1857820|ICD10:H90.3|MESH:C565719|OMIM:610143 owl:Class MONDO:0004211 biolink:NamedThing L-cell glucagon-like peptide-producing neuroendocrine tumor A neuroendocrine tumor that arises from the gastrointestinal tract and produces glucagon-like peptides. Morphologically, it is characterized by the presence of neoplastic cells forming tubular or trabecular patterns. tmpaxzxjjyw_mondo_relaxed.owl L-cell glucagon-like peptide-producing neuroendocrine tumor|L-cell glucagon-like peptide producing tumor|L-cell glucagon-like peptide-producing NET DOID:7402|ICDO:8152/1|UMLS:C3274140|NCIT:C27448 owl:Class MONDO:0009132 biolink:NamedThing dysautonomia-like disorder tmpaxzxjjyw_mondo_relaxed.owl dysautonomia like disorder|dysautonomia-like disorder UMLS:C1857153|GARD:0009475|MESH:C535728|OMIM:224000 https://rarediseases.info.nih.gov/diseases/9475/dysautonomia-like-disorder owl:Class MONDO:0007275 biolink:NamedThing carpal tunnel syndrome Entrapment of the median nerve in the wrist that is characterized by numbness, tingling and painful movement. tmpaxzxjjyw_mondo_relaxed.owl median nerve entrapment|carpal tunnel median neuropathy|carpal tunnel syndrome|amyotrophy, thenar, of carpal origin|CTS - carpal tunnel syndrome|CTS UMLS:C0007286|EFO:0004143|ICD9:354.0|SCTID:57406009|NCIT:C34450|ICD10:G56.00|OMIM:115430|DOID:12169|OMIM:613353|ICD10:G56.0|Orphanet:50838|OMIMPS:115430|MESH:D002349 owl:Class UBERON:0004461 biolink:NamedThing skeletal musculature of head tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007096 biolink:NamedThing amenorrhea-galactorrhea syndrome tmpaxzxjjyw_mondo_relaxed.owl amenorrhea-galactorrhea syndrome ICD9:253.1|OMIM:104600|MESH:C537072|UMLS:C0271556|SCTID:64678009 owl:Class MONDO:0025167 biolink:NamedThing reticuloendotheliosis, avian A group of pathologic syndromes found in avian species caused by reticuloendotheliosis virus. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant. tmpaxzxjjyw_mondo_relaxed.owl Avian Reticuloendothelioses|Reticuloendothelioses, Avian|Avian reticuloendotheliosis UMLS:C0276487|MESH:D055761 owl:Class UBERON:0003583 biolink:NamedThing larynx connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2895 biolink:NamedThing EDAR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004005 biolink:NamedThing rete ovarii adenoma An adenoma that arises from the rete ovarii. It is composed of elongated tubules. The clinical course is benign. tmpaxzxjjyw_mondo_relaxed.owl adenoma, rete ovarii, benign|rete ovarii adenoma DOID:6837|UMLS:C1514905|NCIT:C40018 owl:Class GO:0033603 biolink:NamedThing positive regulation of dopamine secretion Any process that activates or increases the frequency, rate or extent of the regulated release of dopamine. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of dopamine secretion|upregulation of dopamine secretion|up regulation of dopamine secretion|stimulation of dopamine secretion|activation of dopamine secretion owl:Class MONDO:0017464 biolink:NamedThing congenital pseudoarthrosis of the fibula tmpaxzxjjyw_mondo_relaxed.owl congenital pseudarthrosis of the fibula Orphanet:295022|ICD10:Q74.2 owl:Class CHEBI:169952 biolink:NamedThing 13-cis-retinoate tmpaxzxjjyw_mondo_relaxed.owl (2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoate|13-cis-retinoate owl:Class MONDO:0021547 biolink:NamedThing amelogenesis imperfecta type 3B tmpaxzxjjyw_mondo_relaxed.owl amelogenesis imperfecta, type 3B|amelogenesis imperfecta, type IIIB|AI3B OMIM:617607|Orphanet:100032|UMLS:CN373594|DOID:0080243 owl:Class MONDO:0000128 biolink:NamedThing giant axonal neuropathy A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs. tmpaxzxjjyw_mondo_relaxed.owl ICD9:349.89|SCTID:128207002|NCIT:C84728|UMLS:C5200933|UMLS:C1850386|MESH:D056768|OMIMPS:256850 See genetic heterogeneity of OMIM 256850. https://github.com/monarch-initiative/mondo/issues/2532 owl:Class MONDO:0004183 biolink:NamedThing axonal neuropathy Any nerve disorder affecting the axon of a nerve. tmpaxzxjjyw_mondo_relaxed.owl axon peripheral neuropathy|axonal neuropathy|peripheral neuropathy of axon NCIT:C27301|UMLS:C0270921|DOID:7319|SCTID:60703000 owl:Class MONDO:0003540 biolink:NamedThing acute T cell leukemia tmpaxzxjjyw_mondo_relaxed.owl precursor T lymphoblastic leukemia CSP:2004-1600|DOID:5603|ICD10:C91.50|UMLS:C0023493|SCTID:110007008|SCTID:277575008|NCIT:C3184|ICD10:C91.5|CSP:2004-1803 owl:Class HGNC:33067 biolink:NamedThing SNORD116-1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10998 biolink:NamedThing SLC27A4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12406 biolink:NamedThing TUB tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33263 biolink:NamedThing diatomic oxygen tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011823 biolink:NamedThing dense connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017586 biolink:NamedThing onychocytic matricoma Onychocytic matricoma is a rare tumor of the nail that is generally benign. Affected people often experience thickening of the involved portion of the nail. The tumor may be pigmented (melanonychia - a black or brown pigmentation of the normal nail plate) or non-pigmented. The exact underlying cause of onychocytic matricoma is currently unknown. It generally occurs sporadically in people with no family history of the condition. Treatment generally consists of surgical excision. tmpaxzxjjyw_mondo_relaxed.owl acanthoma of the nail matrix UMLS:CN203392|GARD:0011007|Orphanet:300504 https://rarediseases.info.nih.gov/diseases/11007/onychocytic-matricoma owl:Class CHEBI:35856 biolink:NamedThing lipoxygenase inhibitor A compound or agent that combines with lipoxygenase and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of the icosanoid products hydroxyicosatetraenoic acid and various leukotrienes. tmpaxzxjjyw_mondo_relaxed.owl lipooxygenase inhibitor|lipoxygenase inhibitors owl:Class MONDO:0017126 biolink:NamedThing oculo-skeletal-renal syndrome tmpaxzxjjyw_mondo_relaxed.owl oculo skeletal renal syndrome UMLS:CN202523|GARD:0004028|Orphanet:2716 https://rarediseases.info.nih.gov/diseases/4028/oculo-skeletal-renal-syndrome owl:Class MONDO:0016968 biolink:NamedThing partial trisomy of the long arm of chromosome 18 tmpaxzxjjyw_mondo_relaxed.owl Duplication 18q|partial trisomy of the long arm of chromosome type 18|trisomy 18q|18q trisomy|18q duplication|chromosome 18q duplication|partial duplication of the long arm of chromosome 18|partial duplication of chromosome 18q|18q partial trisomy|partial trisomy of chromosome 18q MESH:C538308|UMLS:C0809935|GARD:0005324|Orphanet:262977 owl:Class MONDO:0014288 biolink:NamedThing Joubert syndrome 21 Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome type 21|CSPP1 Joubert syndrome|Joubert syndrome 21|JBTS21|Joubert syndrome caused by mutation in CSPP1 DOID:0110990|Orphanet:397715|Orphanet:475|OMIM:615636|UMLS:C3810212 owl:Class MONDO:0017243 biolink:NamedThing bullous diffuse cutaneous mastocytosis Bullous diffuse cutaneous mastocytosis (BDCM) is a form of diffuse cutaneous mastocytosis (DCM) characterized by generalized erythroderma and severe blistering associated with the accumulation of mast cells in the skin. tmpaxzxjjyw_mondo_relaxed.owl bullous DCM Orphanet:280785|ICD10:Q82.2 owl:Class MONDO:0025351 biolink:NamedThing multiple congenital anomalies-neurodevelopmental syndrome, x-linked tmpaxzxjjyw_mondo_relaxed.owl Linked syndrome|MCAND OMIM:301056 owl:Class MONDO:0000208 biolink:NamedThing microcephaly, short stature, and impaired glucose metabolism 1 tmpaxzxjjyw_mondo_relaxed.owl microcephaly, short stature, and impaired glucose metabolism|MSSGM|microcephaly, short stature, and impaired glucose metabolism 1|MSSGM1 OMIM:616033|UMLS:C4014997 owl:Class HGNC:8790 biolink:NamedThing PDE6H tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032798 biolink:NamedThing ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features tmpaxzxjjyw_mondo_relaxed.owl ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES|IKSHD OMIM:618527 owl:Class MONDO:0004866 biolink:NamedThing eustachian tube disorder A disease involving the pharyngotympanic tube. tmpaxzxjjyw_mondo_relaxed.owl pharyngotympanic tube disease|eustachian tube disorder|disease or disorder of pharyngotympanic tube|disease of eustachian tube|auditory tube disorder|disease of pharyngotympanic tube|disorder of eustachian tube|pharyngotympanic tube disease or disorder|disorder of pharyngotympanic tube ICD10:H68|DOID:9739|ICD9:381.8|ICD9:381.89|ICD9:381.9|SCTID:69494008|UMLS:C0271468 owl:Class UBERON:0006311 biolink:NamedThing chamber of eyeball tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022608 biolink:NamedThing brittle bone syndrome lethal type tmpaxzxjjyw_mondo_relaxed.owl GARD:0001018 https://rarediseases.info.nih.gov/diseases/1018/brittle-bone-syndrome-lethal-type owl:Class HGNC:6597 biolink:NamedThing LIFR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043735 biolink:NamedThing osteoradionecrosis Necrosis of bone following radiation injury. tmpaxzxjjyw_mondo_relaxed.owl osteoradionecrosis|Osteoradionecroses|radiation necrosis of bone MESH:D010025|NCIT:C63707|SCTID:109333005 owl:Class UBERON:0005626 biolink:NamedThing ventral mesogastrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018123 biolink:NamedThing intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive intellectual disability due to TRAPPC9 deficiency|intellectual disability-obesity-brain malformations-facial dysmorphism syndrome UMLS:CN204496|Orphanet:352530|ICD10:Q04.8 owl:Class CL:0000104 biolink:NamedThing multipolar neuron Neuron with an axon and two or more dendrites. tmpaxzxjjyw_mondo_relaxed.owl FMA:67287 cell owl:Class MONDO:0018621 biolink:NamedThing lymphoplasmacytic lymphoma without IgM production tmpaxzxjjyw_mondo_relaxed.owl lymphoplasmacytic lymphoma without Immunoglobulin M production Orphanet:443159|ICD10:C83.0 owl:Class MONDO:0011985 biolink:NamedThing hyper-IgM syndrome type 4 A form of Hyper IgM syndrome which is a defect in class switch recombination downstream of the AICDA gene that does not impair somatic hypermutation. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency with hyper-IgM type 4|immunodeficiency with hyper IgM type 4|hyper-IgM syndrome type 4|HIGM4|hyper IgM syndrome 4|immunodeficiency with hyper-IgM, type 4|hyper-IgM syndrome 4 GARD:0010580|Orphanet:101091|UMLS:C1842413|MESH:C564277|OMIM:608184|DOID:0060760|Orphanet:183666|ICD10:D80.5 https://rarediseases.info.nih.gov/diseases/10580/immunodeficiency-with-hyper-igm-type-4 owl:Class MONDO:0020306 biolink:NamedThing absent tibia-polydactyly syndrome Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. tmpaxzxjjyw_mondo_relaxed.owl tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome|polydactyly with absent tibia|absence of tibia with polydactyly OMIM:188740|Orphanet:988|UMLS:C1861099|MESH:C535564|GARD:0008309|ICD10:Q87.2|DOID:0111564 owl:Class MONDO:0011294 biolink:NamedThing schizophrenia 5 A schizophrenia that has material basis in a mutation on chromosome 6q13-q26. tmpaxzxjjyw_mondo_relaxed.owl schizophrenia susceptibility locus, chromosome 6Q-related|schizophrenia 5 with or without an affective disorder|schizophrenia 5|SCZD5 DOID:0070081|OMIM:603175|UMLS:C1864153 owl:Class MONDO:0008478 biolink:NamedThing spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. tmpaxzxjjyw_mondo_relaxed.owl spondylometaphyseal dysplasia, Schmidt type|Schmid metaphyseal dysostosis|spondylometaphyseal dysplasia Algerian type|spondylometaphyseal dysplasia Schmidt type|spondylometaphyseal dysplasia, Algerian type|spondylometaphyseal dysplasia with severe genu valgum SCTID:719304005|Orphanet:93316|ICD10:Q77.8|GARD:0000504|OMIM:184253|MESH:C535794 owl:Class HGNC:5154 biolink:NamedThing HPGD tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:71275 biolink:NamedThing rosids tmpaxzxjjyw_mondo_relaxed.owl Rosidae GC_ID:1 ncbi_taxonomy owl:Class CL:0002521 biolink:NamedThing subcutaneous fat cell A fat cell that is part of subcutaneous adipose tissue. tmpaxzxjjyw_mondo_relaxed.owl subcutaneous adipocyte tmeehan 2011-02-21T02:51:22Z cell owl:Class OBO:CHR_9606-chr15q11.2 biolink:NamedThing 15q11.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 25500000 20500000 hg38 owl:Class MONDO:0017216 biolink:NamedThing calciphylaxis cutis Calciphylaxis cutis is a life-threatening syndrome characterized by progressive and painful skin ulcerations associated with media calcification of medium-size and small cutaneous arterial vessels. It affects mainly patients on dialysis or after renal transplantation. tmpaxzxjjyw_mondo_relaxed.owl SCTID:717043006|UMLS:C4274083|ICD10:E83.5|Orphanet:280065 owl:Class MONDO:0003261 biolink:NamedThing papillary meningioma of the cerebellum A papillary meningioma that affects the cerebellum. tmpaxzxjjyw_mondo_relaxed.owl papillary meningioma of cerebellum|papillary meningioma of the cerebellum|cerebellum papillary meningioma|cerebellar papillary meningioma UMLS:C1332902|NCIT:C5270|DOID:5057 owl:Class MONDO:0023089 biolink:NamedThing erythroplakia A clinical term that refers to the presence of a red flat and well defined lesion on the oral mucosa that is not caused by trauma, vascular, or inflammatory processes. It is a precancerous condition and is seen more commonly in middle aged or older males. It is associated with tobacco and alcohol consumption. Microscopic examination reveals severe epithelial dysplasia, carcinoma in situ, or invasive squamous cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl erythroplakia EFO:1001786|UMLS:C0014818|GARD:0006378|NCIT:C3025 https://rarediseases.info.nih.gov/diseases/6378/erythroplakia owl:Class MONDO:0004646 biolink:NamedThing decubitus ulcer Death of tissue due to external pressure. tmpaxzxjjyw_mondo_relaxed.owl decubitus ulcer any site|decubitus ulcer, other site|decubitus ulcer, elbow|bedsore|pressure ulcer|decubitus ulcer, lower back|pressure sores|decubitus ulcer|decubitus ulcer, upper back|decubitus (pressure) ulcer ICD10:L89|ICD9:707.00|SCTID:399912005|NCIT:C50706|ICD10:L89.9|EFO:0007067|DOID:8717|MESH:D003668|ICD9:707.0|UMLS:C0011127 owl:Class GO:0099503 biolink:NamedThing secretory vesicle A cytoplasmic, membrane bound vesicle that is capable of fusing to the plasma membrane to release its contents into the extracellular space. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008027 biolink:NamedThing muscular atrophy, malignant neurogenic tmpaxzxjjyw_mondo_relaxed.owl muscular atrophy, malignant neurogenic UMLS:C1834689|MESH:C563559|OMIM:158650 owl:Class HGNC:12731 biolink:NamedThing WAS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015559 biolink:NamedThing lymphoadenopathic mastocytosis with eosinophilia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:158793|ICD10:C96.2 owl:Class MONDO:0008106 biolink:NamedThing nystagmus 2, congenital, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl NYS2|Nystagmus congenital, motor 2|Nystagmus, congenital motor, 2|NYSTAGMUS 2, congenital, autosomal dominant MESH:C537854|GARD:0009599|OMIM:164100 owl:Class MONDO:0010333 biolink:NamedThing corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. tmpaxzxjjyw_mondo_relaxed.owl corpus callosum, agenesis of, with intellectual disability, ocular coloboma, and micrognathia|corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia|corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia|corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia|MRXS28|mental retardation, X-linked, syndromic 28|agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome|intellectual disability, X-linked, syndromic 28|Graham-Cox syndrome ICD10:Q87.8|MESH:C564509|SCTID:722282008|GARD:0012486|Orphanet:52055|DOID:0060816|OMIM:300472 owl:Class GO:0033683 biolink:NamedThing nucleotide-excision repair, DNA incision A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. tmpaxzxjjyw_mondo_relaxed.owl DNA incision involved in nucleotide-excision repair|nucleic acid cleavage involved in nucleotide-excision repair owl:Class MONDO:0013622 biolink:NamedThing platelet-type bleeding disorder 9 Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ITGA2 gene. tmpaxzxjjyw_mondo_relaxed.owl collagen platelet receptor deficiency|inherited bleeding disorder, platelet-type caused by mutation in ITGA2|ITGA2 inherited bleeding disorder, platelet-type|bleeding disorder, platelet-type, 9|glycoprotein Ia deficiency|BDPLT9|GP Ia deficiency|bleeding diathesis due to integrin alpha2-beta1 deficiency ICD10:D69.8|DOID:0111045|MESH:C566000|Orphanet:98886|OMIM:614200|Orphanet:73271 owl:Class HGNC:11905 biolink:NamedThing TNFRSF10B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019321 biolink:NamedThing atypical Werner syndrome A heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. tmpaxzxjjyw_mondo_relaxed.owl atypical progeroid syndrome UMLS:C4275075|GARD:0011910|ICD10:E34.8|Orphanet:79474|SCTID:715633008|UMLS:CN205977 https://rarediseases.info.nih.gov/diseases/11910/atypical-werner-syndrome owl:Class MONDO:0020628 biolink:NamedThing microcephaly, growth restriction, and increased sister chromatid exchange 2 tmpaxzxjjyw_mondo_relaxed.owl MGRISCE2|microcephaly, growth restriction, and increased sister chromatid exchange 2 Orphanet:508512|OMIM:618097 owl:Class MONDO:0008739 biolink:NamedThing agenesis of cerebral white matter tmpaxzxjjyw_mondo_relaxed.owl agenesis of cerebral white matter OMIM:202600 owl:Class MONDO:0044339 biolink:NamedThing lumbar disc degenerative disorder Any degenerative disorder affecting one or more vertebral discs of the lumbar spine. tmpaxzxjjyw_mondo_relaxed.owl IDD|degenerative disc disease|lumbar disc disease|intervertebral disc disease|degeneration of lumbar intervertebral disc|lumbar Disc degenerative disorder|intervertebral DISC disease|lumbar Disc degenerative disease|lumbar region of vertebral column intervertebral disc degenerative disorder|intervertebral disc degenerative disorder of lumbar region of vertebral column|degenerative disc disorder|lumbar disc herniation, susceptibility to|lumbar Disc Degeneration|lumbar disc degeneration, susceptibility to MESH:C535531|EFO:0004994|NCIT:C27154|SCTID:26538006|OMIM:603932 owl:Class GO:0033576 biolink:NamedThing protein glycosylation in cytosol The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in the cytosol. tmpaxzxjjyw_mondo_relaxed.owl protein amino acid glycosylation in cytosol owl:Class CL:0002631 biolink:NamedThing epithelial cell of upper respiratory tract tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-06-21T12:28:55Z cell owl:Class HGNC:25784 biolink:NamedThing DCAF17 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:39725 biolink:NamedThing Circovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010982 biolink:NamedThing ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin tmpaxzxjjyw_mondo_relaxed.owl ichthyosis-intellectual disability syndrome with large keratohyalin granules in the skin|ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin MESH:C563402|UMLS:C1832858|OMIM:601039|GARD:0002957 owl:Class MONDO:0021747 biolink:NamedThing Acanthamoeba infectious disease A infectious disease involving the Acanthamoeba. tmpaxzxjjyw_mondo_relaxed.owl infection caused by Acanthamoeba|acanthamoebosis|infections, Acanthamoeba|infection by Acanthamoeba|Acanthamoeba infection|acanthamoebiasis SCTID:49649001 owl:Class MONDO:0006065 biolink:NamedThing lactose intolerance adult type Adult onset lactose intolerance tmpaxzxjjyw_mondo_relaxed.owl adult lactase deficiency|lactose intolerance, ADULT type|hypolactasia, adult type|disaccharide intolerance 3 EFO:1000063|OMIM:223100|Orphanet:319681 owl:Class MONDO:0014992 biolink:NamedThing lissencephaly 8 Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene. tmpaxzxjjyw_mondo_relaxed.owl lissencephaly 8|TMTC3 lissencephaly (disease)|lissencephaly (disease) caused by mutation in TMTC3|lissencephaly type 8|lissencephaly 8; LIS8|LIS8 OMIM:617255|UMLS:C4310646 owl:Class MONDO:0025667 biolink:NamedThing limbal stem cell deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:171673|UMLS:C1561989 owl:Class MONDO:0100362 biolink:NamedThing lip herpes simplex type 2 infectious disorder Any herpes simplex type 2 infectious disease that involves the lip. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3348 owl:Class UBERON:0018143 biolink:NamedThing transverse process of cervical vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005811 biolink:NamedThing infectious myxomatosis A viral infectious disease that results in infection located in eyes or located in upper respiratory tract of domestic rabbits, has material basis in Myxoma virus, which is transmitted by mosquitos, transmitted by biting flies or transmitted by direct contact. The infection has symptom conjunctivitis with a milky discharge from the inflamed eye and has symptom breathing difficulties. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027152|EFO:0007327|MESH:D009234 owl:Class HGNC:14867 biolink:NamedThing APOL4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030031 biolink:NamedThing lissencephaly 10 tmpaxzxjjyw_mondo_relaxed.owl LISSENCEPHALY 10|LIS10|lissencephaly 10 OMIM:618873 owl:Class CL:0000095 biolink:NamedThing neuron associated cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0009634 biolink:NamedThing microtia with meatal atresia and conductive deafness tmpaxzxjjyw_mondo_relaxed.owl familial microtia and meatal atresia|familial microtia with meatal atresia and conductive deafness|microtia with meatal atresia and conductive deafness|microtia meatal atresia deafness dominant|microtia, meatal atresia and conductive deafness|Gupta Patton syndrome GARD:0003657|GARD:0000357|UMLS:C2931502|MESH:C537469|OMIM:251800 owl:Class HP:0002157 biolink:NamedThing Azotemia An increased concentration of nitrogen compounds in the blood. tmpaxzxjjyw_mondo_relaxed.owl Azotaemia SNOMEDCT_US:445009001|MSH:D053099|UMLS:C0242528 Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. human_phenotype owl:Class FOODON:03411998 biolink:NamedThing decapod The Decapoda or decapods (literally "ten-footed") are an order of crustaceans within the class Malacostraca, including many familiar groups, such as crayfish, crabs, lobsters, prawns, and shrimp. Most decapods are scavengers. [https://en.wikipedia.org/wiki/Decapoda] tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006307 biolink:NamedThing mixed somatotroph-lactotroph pituitary gland adenoma An infrequent pituitary gland adenoma composed of an admixture of acidophilic and chromophobic cells that produce growth hormone and prolactin respectively. Unlike mammosomatotroph adenomas, these two hormones are not localized in the same cell by immunohistochemistry. tmpaxzxjjyw_mondo_relaxed.owl Mixed somatotroph and lactotroph adenoma|mixed somatotroph-lactotroph adenoma|mixed somatotroph-lactotroph pituitary gland adenoma|mixed Somatolactotrope adenoma|mixed GH-PRL cell adenoma UMLS:C1709052|EFO:1000383|NCIT:C45927 owl:Class MONDO:0002935 biolink:NamedThing penis basal cell carcinoma A basal cell carcinoma of the penis with an indolent clinical course. It is usually superficial and arises from the shaft and rarely the glans. tmpaxzxjjyw_mondo_relaxed.owl penile basal cell cancer|skin of penis skin basal cell carcinoma|penis skin basal cell carcinoma|basal cell carcinoma of the penis|penile basal cell carcinoma|skin basal cell carcinoma of penis UMLS:C1518949|NCIT:C39961|DOID:4277 owl:Class MONDO:0004286 biolink:NamedThing pancreatic intraductal papillary-mucinous neoplasm A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus. tmpaxzxjjyw_mondo_relaxed.owl pancreatic intraductal papillary-mucinous neoplasm|IPMN|intraductal papillary mucinous neoplasm|pancreatic intraductal papillary-mucinous tumor|pancreatic IPMN NCIT:C38342|ONCOTREE:IPMN|DOID:7575|UMLS:C1518869 owl:Class MONDO:0009948 biolink:NamedThing pyropoikilocytosis, hereditary An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency. tmpaxzxjjyw_mondo_relaxed.owl pyropoikilocytosis, hereditary|HPP|pyropoikilocytosis hereditary|hereditary pyropoikilocytosis ICD9:790.09|GARD:0004619|Orphanet:98867|OMIM:266140|SCTID:9434008|MESH:C563004|NCIT:C98943 https://rarediseases.info.nih.gov/diseases/4619/pyropoikilocytosis-hereditary owl:Class MONDO:0008081 biolink:NamedThing neurofibromatosis, type IV, of Riccardi tmpaxzxjjyw_mondo_relaxed.owl neurofibromatosis, type IV, of RICCARDI|neurofibromatosis type IV|neurofibromatosis, variant form(S) of|neurofibromatosis, atypical|neurofibromatosis, type IV, of Riccardi|NF4|neurofibromatosis type 4|Nf 4|type IV neurofibromatosis of Riccardi MESH:C537392|OMIM:162270 owl:Class MONDO:0024264 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 2 A congenital hypothyroidism that has material basis in heterozygous mutation in the PAX8 gene on chromosome 2q13. tmpaxzxjjyw_mondo_relaxed.owl thyroid, ectopic|congenital hypothyroidism due to thyroid dysgenesis or hypoplasia|resistance to thyrotropin|congenital nongoitrous hypothyroidism 2|hypothyroidism, athyreotic|CHNG2|hypothyroidism, congenital, nongoitrous, 2|athyreotic hypothyroidism|congenital nongoitrous hypothryoidism 2|thyroid agenesis|thyroid hypoplasia|thyroid dysgenesis|hypothyroidism, congenital, due to thyroid dysgenesis|thyrotropin resistance ICD10:E03.1|Orphanet:95712|Orphanet:95719|DOID:0070124|Orphanet:95720|Orphanet:95713|OMIM:218700 owl:Class MONDO:0021378 biolink:NamedThing neoplasm of endocardium A neoplasm (disease) that involves the endocardium. tmpaxzxjjyw_mondo_relaxed.owl endocardial tumor|endocardium neoplasm (disease)|endocardial neoplasm|endocardium tumor|neoplasm of the endocardium|tumor of the endocardium|endocardium neoplasm|neoplasm of endocardium|tumor of endocardium ICD9:239.89|UMLS:C1290401|NCIT:C5346|SCTID:126731002 owl:Class MONDO:0016183 biolink:NamedThing qualitative or quantitative defects of protein glycosyltransferase-like tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209027 owl:Class MONDO:0006369 biolink:NamedThing pineal parenchymal tumor of intermediate differentiation A WHO grade II or III pineal parenchymal neoplasm of intermediate-grade malignancy, affecting all ages. It is composed of diffuse sheets or large lobules of uniform cells with mild to moderate nuclear atypia and low to moderate level mitotic activity. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl PPTID|pineal parenchymal tumor of intermediate differentiation (morphologic abnormality)|pineal parenchymal tumour of intermediate differentiation|pineal parenchymal tumors of intermediate differentiation|pineal parenchymal tumor of intermediate differentiation SCTID:715904005|DOID:5030|ONCOTREE:PPTID|UMLS:C1367859|NCIT:C6967|EFO:1000474|GARD:0010644 owl:Class HGNC:18119 biolink:NamedThing SPATA5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003459 biolink:NamedThing chest bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C36292 biolink:NamedThing Laboratory Test Result tmpaxzxjjyw_mondo_relaxed.owl Laboratory Test Result owl:Class MONDO:0018504 biolink:NamedThing undifferentiated carcinoma of stomach A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation. tmpaxzxjjyw_mondo_relaxed.owl undifferentiated stomach adenocarcinoma|anaplastic gastric carcinoma|undifferentiated carcinoma of stomach|Gastric undifferentiated carcinoma|anaplastic carcinoma of stomach|undifferentiated carcinoma of the stomach|undifferentiated gastric (stomach) cancer|undifferentiated gastric carcinoma|anaplastic carcinoma of the stomach|stomach undifferentiated carcinoma ICD10:C16.1|ONCOTREE:USTAD|Orphanet:423786|ICD10:C16.5|UMLS:CN237509|ICD10:C16.8|NCIT:C5476|ICD10:C16.3|UMLS:C1336858|ICD10:C16.0|ICD10:C16.4|ICD10:C16.2|SCTID:766757006|ICD10:C16.6 owl:Class MONDO:0019077 biolink:NamedThing warty dyskeratoma A rare, usually solitary, benign epithelial tumor of the skin that appears to arise from a hair follicle. It usually develops in the head and neck region as a nodular lesion with a central keratotic plug. tmpaxzxjjyw_mondo_relaxed.owl follicular dyskeratoma|isolated follicular keratosis MedDRA:10068856|UMLS:C0334063|SCTID:254676008|Orphanet:69745|NCIT:C4087 owl:Class MONDO:0010207 biolink:NamedThing woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome tmpaxzxjjyw_mondo_relaxed.owl woolly hair hypotrichosis everted lower lip and outstanding ears|wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome|woolly hair, hypotrichosis, everted LOWER LIP, and outstanding ears|Salamon syndrome Orphanet:1409|OMIM:278200|MESH:C536746|SCTID:239023005|GARD:0005594 owl:Class UBERON:0016511 biolink:NamedThing lamina propria of fundus of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004771 biolink:NamedThing Fuchs' heterochromic uveitis A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. tmpaxzxjjyw_mondo_relaxed.owl Fuchs uveitis syndrome|Fuch's heterochromic iridocyclitis|Fuchs' heterochromic cyclitis DOID:9375|UMLS:C0016782|SCTID:11226001|ICD9:364.21|ICD10:H20.81 owl:Class NCBITaxon:54285 biolink:NamedThing Oestrinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003616 biolink:NamedThing salpingitis isthmica nodosa Formation of nodules in the isthmus of the fallopian tube due to fallopian tube diverticulosis. It may cause infertility or ectopic pregnancy. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0269043|DOID:5730|SCTID:36742000|NCIT:C40119 owl:Class HP:0000078 biolink:NamedThing Abnormality of the genital system An abnormality of the genital system. tmpaxzxjjyw_mondo_relaxed.owl Genital abnormalities|Genital defects|Genital anomalies|Genital abnormality|Abnormality of the reproductive system UMLS:C0281966|UMLS:C0744356 human_phenotype owl:Class HP:0000789 biolink:NamedThing Infertility tmpaxzxjjyw_mondo_relaxed.owl Infertility SNOMEDCT_US:8619003|MSH:D007246|SNOMEDCT_US:15296000|UMLS:C0021359 human_phenotype owl:Class GO:0007568 biolink:NamedThing aging A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). tmpaxzxjjyw_mondo_relaxed.owl ageing owl:Class MONDO:0043135 biolink:NamedThing microcephaly microphthalmos blindness tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931526|GARD:0003629|MESH:C537541 owl:Class MONDO:0013107 biolink:NamedThing atopic dermatitis 7 An atopic dermatitis associated with variation in the region 11q13.5. tmpaxzxjjyw_mondo_relaxed.owl atopic dermatitis type 7|ATOD7|dermatitis, ATOPIC, 7 UMLS:C2751599|MESH:C567796|OMIM:613064|DOID:0110103 owl:Class MONDO:0009846 biolink:NamedThing pentosuria Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day. tmpaxzxjjyw_mondo_relaxed.owl L-Xylulosuria|L-xylulose reductase deficiency|pentosuria|xylitol dehydrogenase deficiency|essential pentosuria|PNTSU GARD:0000418|SCTID:190764000|UMLS:C0268162|MESH:C536652|OMIM:260800|DOID:0111258|MedDRA:10064170|ICD10:E74.8|ICD9:271.8|Orphanet:2843 https://rarediseases.info.nih.gov/diseases/418/pentosuria owl:Class MONDO:0010662 biolink:NamedThing paraplegia-intellectual disability-hyperkeratosis syndrome Paraplegia-intellectual disability-hyperkeratosis syndrome is characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition. tmpaxzxjjyw_mondo_relaxed.owl Fitzsimmons-McLachlan-Gilbert syndrome|intellectual disability with spastic paraplegia and palmoplantar hyperkeratosis|mental retardation with spastic paraplegia and palmoplantar hyperkeratosis MESH:C537058|Orphanet:2824|OMIM:309560|UMLS:C2745996|GARD:0002344|ICD10:G82.1 owl:Class HGNC:3309 biolink:NamedThing ELANE tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3551 biolink:NamedThing F9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:24668 biolink:NamedThing CFHR5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004039 biolink:NamedThing papillary extrahepatic bile duct adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl DOID:6931 owl:Class NCBITaxon:5302 biolink:NamedThing Agaricomycotina tmpaxzxjjyw_mondo_relaxed.owl Hymenomycetes GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5204 biolink:NamedThing Basidiomycota tmpaxzxjjyw_mondo_relaxed.owl basidiomycetes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008069 biolink:NamedThing necrotizing encephalomyelopathy, subacute, of Leigh, adult tmpaxzxjjyw_mondo_relaxed.owl necrotizing encephalomyelopathy, subacute, of Leigh, adult|Leigh syndrome, adult MESH:C563530|Orphanet:506|UMLS:C1834340|OMIM:161700 owl:Class MONDO:0011189 biolink:NamedThing arrhythmogenic right ventricular dysplasia 4 An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. tmpaxzxjjyw_mondo_relaxed.owl arrhythmogenic right ventricular cardiomyopathy 4|fanilial arrhythmogenic right ventricular dysplasia 4|arrhythmogenic right ventricular dysplasia, familial, 4|ARVC4|ARVD4|arrhythmogenic right ventricular dysplasia type 4 OMIM:602087|UMLS:C1865881|MESH:C566583|ICD10:I42.8|DOID:0110073|Orphanet:217656 owl:Class HGNC:4931 biolink:NamedThing HLA-A tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006885 biolink:NamedThing regulation of pH Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl hydrogen ion homeostasis owl:Class CHEBI:35143 biolink:NamedThing hemoglobin tmpaxzxjjyw_mondo_relaxed.owl hemoglobin|vertebrate haemoglobin|haemoglobin owl:Class ENVO:01000982 biolink:NamedThing water flow process A process during which a volume of water is transported due to a disequilibria in physical forces. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030930 biolink:NamedThing neurodevelopmental disorder with or without early-onset generalized epilepsy tmpaxzxjjyw_mondo_relaxed.owl NEDEGE OMIM:619157 owl:Class MONDO:0002383 biolink:NamedThing Pacinian tumor A neurofibroma characterized by the presence of structures which resemble Vater-Pacini corpuscles. tmpaxzxjjyw_mondo_relaxed.owl Pacinian tumor (morphologic abnormality)|Pacinian neurofibroma DOID:2669|NCIT:C4328|UMLS:C0334599|SCTID:404033003|ICDO:9507/0|ICD9:215.9 owl:Class MONDO:0043455 biolink:NamedThing humoral hypercalcemia of malignancy Hypercalcemia generally develops as a late complication of malignancy; its appearance has grave prognostic significance. It remains unclear, however, whether death is associated with hypercalcemic crisis (uncontrolled or recurrent progressive hypercalcemia) or with advanced disease. Symptoms include central nervous system impairment such as delirium with prominent symptoms of personality change, cognitive dysfunction, disorientation, incoherent speech, and psychotic symptoms such as hallucinations and delusions, smooth muscle hypotonicity, and altered cardiovascular function. tmpaxzxjjyw_mondo_relaxed.owl hhm|hypercalcemia of malignancy|malignancy associated hypercalcemia|mahc|malignant hypercalcemia|humoral hypercalcemia of malignancy MESH:C562390|UMLS:C0149911|NCIT:C3496|SCTID:47709007 owl:Class MONDO:0018933 biolink:NamedThing Mazabraud syndrome Mazabraud syndrome is a rare primary bone dysplasia characterized by the association of fibrous dysplasia with intramuscular myxomas. Fibrous dysplasia (usually polyostotic, sometimes monostotic) occurs during the growth period and can be asymptomatic or can present with pain, skeletal deformities or fractures while intramuscular myxoma, associated with polyostotic fibrous dysplasia is usually multifocal, typically occuring in the vicinity of skeletal lesions, and presents in adulthood as a painless soft-tissue mass (most commonly in the thigh). Although it is a benign condition, local recurrences of myxomas after incomplete excision and malignant transformation of a fibrous dysplastic lesion into osteogenic sarcoma have been reported. tmpaxzxjjyw_mondo_relaxed.owl Myxoma with fibrous dysplasia Orphanet:57782|SCTID:699251001|ICD9:733.29|UMLS:CN205323|ICD9:215.9|ICD10:M85.0 owl:Class MONDO:0013706 biolink:NamedThing intellectual disability, autosomal recessive 23 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal recessive 23|MRT23|mental retardation, autosomal recessive 23 UMLS:C3280542|OMIM:614344 owl:Class MONDO:0008567 biolink:NamedThing thyroid cancer, nonmedullary, 1 tmpaxzxjjyw_mondo_relaxed.owl familial nonmedullary thyroid cancer, papillary|papillary carcinoma of thyroid|thyroid cancer, nonmedullary, 1|nonmedullary thyroid carcinoma, papillary|thyroid cancer, nonmedullary, type 1|NMTC1 OMIM:188550|Orphanet:146|Orphanet:319487|UMLS:C0238463 owl:Class FOODON:03411021 biolink:NamedThing fish or lower water animal An aquatic animal is an animal, either vertebrate or invertebrate, which lives in the water for most or all of its lifetime. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0055024 biolink:NamedThing regulation of cardiac muscle tissue development Any process that modulates the frequency, rate or extent of cardiac muscle tissue development. tmpaxzxjjyw_mondo_relaxed.owl regulation of heart muscle development owl:Class MONDO:0011172 biolink:NamedThing otofacioosseous-gonadal syndrome tmpaxzxjjyw_mondo_relaxed.owl otofacioosseous-gonadal syndrome MESH:C566597|UMLS:C1865988|OMIM:601976 owl:Class GO:0042330 biolink:NamedThing taxis The directed movement of a motile cell or organism in response to an external stimulus. tmpaxzxjjyw_mondo_relaxed.owl directed movement in response to stimulus owl:Class MONDO:0022714 biolink:NamedThing chester porphyria Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic. tmpaxzxjjyw_mondo_relaxed.owl PORC|porphyria, Chester type GARD:0010185 https://rarediseases.info.nih.gov/diseases/10185/chester-porphyria owl:Class HGNC:4122 biolink:NamedThing GALNS tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0031137 biolink:NamedThing Storage in hepatocytes Hepatocytes (liver parenchymal cells) exhibit a bloated appearance because of expansion of the cytoplasm by accumulated material. tmpaxzxjjyw_mondo_relaxed.owl 2017-06-10 15:30:13+00:00 peter human_phenotype owl:Class MONDO:0033312 biolink:NamedThing schizophrenia 19 tmpaxzxjjyw_mondo_relaxed.owl schizophrenia 19 with or without an affective disorder|schizophrenia 19|SCZD19 OMIM:617629|DOID:0080281|UMLS:CN404275 owl:Class MONDO:0008886 biolink:NamedThing Sabinas brittle hair syndrome tmpaxzxjjyw_mondo_relaxed.owl brittle hair and mental Deficit|brittle hair syndrome, Sabinas type|Sabinas brittle hair syndrome|Sabinas syndrome UMLS:C0796271|OMIM:211390|MESH:C536320|GARD:0000313|Orphanet:3123 https://rarediseases.info.nih.gov/diseases/313/sabinas-brittle-hair-syndrome owl:Class GO:0006836 biolink:NamedThing neurotransmitter transport The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. tmpaxzxjjyw_mondo_relaxed.owl sodium:neurotransmitter transport owl:Class MONDO:0010208 biolink:NamedThing wrinkly skin syndrome Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism). tmpaxzxjjyw_mondo_relaxed.owl WSS|wrinkled skin syndrome|wrinkly skin syndrome ICD10:Q82.8|SCTID:238875009|ICD9:259.8|UMLS:C0406587|Orphanet:2834|MESH:C536750|GARD:0000273|Orphanet:357058|OMIM:278250 owl:Class MONDO:0017606 biolink:NamedThing facial nerve palsy due to herpes zoster infection tmpaxzxjjyw_mondo_relaxed.owl Hunt's syndrome (formerly)|Ramsay Hunt syndrome type 2 (formerly)|Hunt syndrome (formerly)|Ramsay Hunt syndrome|facial nerve paralysis due to VZV|facial nerve palsy due to VZV ICD10:B02.2+|ICD10:G53.0*|GARD:0007525|Orphanet:3020 owl:Class MONDO:0004585 biolink:NamedThing polyhydramnios An excess quantity of amniotic fluid in the amniotic sac as compared to normal values. Typically associated with an amniotic fluid index (AFI) of greater than or equal to 25 cm or a single maximum vertical pocket (MVP) of greater than 8 cm. tmpaxzxjjyw_mondo_relaxed.owl polyhydramnios|polyhydramnios (disease) polyhydramnios (disease) ICD9:657.00|ICD9:657.0|ICD9:657|DOID:8488|NCIT:C92848|HP:0001561|SCTID:86203003|MESH:D006831|ICD10:O40 May be obsoleted as it represents a finding owl:Class MONDO:0010855 biolink:NamedThing short tarsus-absence of lower eyelashes syndrome Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. tmpaxzxjjyw_mondo_relaxed.owl stale|Lopes-Gorlin syndrome|Lopes Gorlin syndrome|short tarsus absence of lower eyelashes|short tarsus with absence of LOWER eyelashes OMIM:600269|UMLS:C1838328|GARD:0000296|MESH:C537036|Orphanet:2832|SCTID:721075001|ICD10:Q87.2 owl:Class MONDO:0032813 biolink:NamedThing developmental and epileptic encephalopathy, 79 tmpaxzxjjyw_mondo_relaxed.owl EIEE79|epileptic encephalopathy, early infantile, 79|DEE79|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 79 OMIM:618559 owl:Class HP:0011107 biolink:NamedThing Recurrent aphthous stomatitis Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. tmpaxzxjjyw_mondo_relaxed.owl Recurrent oral aphthae|Recurrent aphthous ulcers|Recurrent canker sores|Buccal aphthous ulcers|Aphthous stomatitis MSH:D013281|SNOMEDCT_US:426965005|SNOMEDCT_US:110426005|UMLS:C2937365|UMLS:C0038363|SNOMEDCT_US:427617000|SNOMEDCT_US:398870000 Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa. peter 2011-06-08T07:11:09Z human_phenotype owl:Class MONDO:0001042 biolink:NamedThing patellar tendinitis A tendinitis that involves the patella. tmpaxzxjjyw_mondo_relaxed.owl patellar tendonitis|tendinitis of patella|patella tendinitis ICD9:726.64|ICD10:M76.5|UMLS:C0158317|DOID:10471|SCTID:37785001|ICD10:M76.50 owl:Class HGNC:20748 biolink:NamedThing FANCL tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000074 biolink:NamedThing Ureteropelvic junction obstruction Blockage of urine flow from the renal pelvis to the proximal ureter. tmpaxzxjjyw_mondo_relaxed.owl Ureteropelvic junction stenosis|Pelviureteric junction obstruction MSH:C537373|UMLS:C0521619|SNOMEDCT_US:95575002 human_phenotype owl:Class HP:0000071 biolink:NamedThing Ureteral stenosis The presence of a stenotic, i.e., constricted ureter. tmpaxzxjjyw_mondo_relaxed.owl Narrowing of the ureter UMLS:C0521618|SNOMEDCT_US:95574003 human_phenotype owl:Class MONDO:0001977 biolink:NamedThing ureteral lymphoma A lymphoma that involves the ureter. tmpaxzxjjyw_mondo_relaxed.owl ureteral lymphoma|lymphoma of ureter|primary ureter lymphoma|lymphoma of the ureter|ureter lymphoma NCIT:C6175|DOID:14489|UMLS:C1336876 owl:Class MONDO:0027767 biolink:NamedThing partial lipodystrophy Loss and redistribution of subcutaneous and/or visceral adipose tissue from specific regions of the body. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131296|DOID:0080299|UMLS:C4316789 owl:Class HP:0002071 biolink:NamedThing Abnormality of extrapyramidal motor function A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). tmpaxzxjjyw_mondo_relaxed.owl Extrapyramidal signs|Extrapyramidal dysfunction|Extrapyramidal symptoms|Extrapyramidal tract signs|Extrapyramidal syndrome SNOMEDCT_US:76349003|UMLS:C0015371|SNOMEDCT_US:43378000|UMLS:C0234133|MSH:D001480 The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. HP:0006810|HP:0007113 human_phenotype owl:Class MONDO:0033947 biolink:NamedThing hereditary angioedema with normal C1Inh tmpaxzxjjyw_mondo_relaxed.owl Orphanet:528647 owl:Class MONDO:0021851 biolink:NamedThing alopecia universalis onychodystrophy vitiligo A syndrome characterized by total alopecia (hair loss), total vitíligo, and nail changes. The nail changes consist of fine pitting, associated with softness, and friability and may include horizontal splitting. The vitiligo is characterized by complete, rapid uniform loss of pigment which occurrs without going through a patchy state. The entire cutaneous surface is light and translucent-appearing and is prone to burning on exposure to the sun. tmpaxzxjjyw_mondo_relaxed.owl alopecia universalis, onychodystrophy, and total vitiligo UMLS:C2931408|MESH:C537056|GARD:0000615 https://rarediseases.info.nih.gov/diseases/615/alopecia-universalis-onychodystrophy-vitiligo owl:Class PATO:0002007 biolink:NamedThing convex 3-D shape A complete three dimensional shape in which for every line connecting pair of points on the object is within the object. Or: a shape lacking cavities. Contrast: concave. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0002266 biolink:NamedThing 3-D shape A shape that inheres in a 3 dimensional entity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011339 biolink:NamedThing hereditary spastic paraplegia 8 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary spastic paraplegia caused by mutation in WASHC5|SPG8|autosomal dominant spastic paraplegia 8|WASHC5 hereditary spastic paraplegia|hereditary spastic paraplegia type 8|spastic paraplegia 8, autosomal dominant|spastic paraplegia 8|autosomal dominant spastic paraplegia type 8 MESH:C580458|ICD10:G11.4|UMLS:C1863704|GARD:0009591|OMIM:603563|Orphanet:100989|DOID:0110823 owl:Class MONDO:0003747 biolink:NamedThing telangiectatic glomangioma A glomus tumor characterized by huge vascular channel formations. tmpaxzxjjyw_mondo_relaxed.owl telangiectatic glomangioma DOID:6048|NCIT:C5345|UMLS:C1336699 owl:Class HGNC:6931 biolink:NamedThing MC3R tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023209 biolink:NamedThing galactorrhoea-hyperprolactinaemia tmpaxzxjjyw_mondo_relaxed.owl hyperprolactinaemia|galactorrhea-hyperprolactinemia|galactorrhoea-hyperprolactinaemia GARD:0008400|MESH:C535402 https://rarediseases.info.nih.gov/diseases/8400/galactorrhoea-hyperprolactinaemia owl:Class MONDO:0020450 biolink:NamedThing azygos continuation of the inferior vena cava tmpaxzxjjyw_mondo_relaxed.owl azygos continuation of the inferior caval vein|azygos continuation of the IVC Orphanet:99121|ICD10:Q26.8 owl:Class MONDO:0016809 biolink:NamedThing spinocerebellar ataxia with epilepsy tmpaxzxjjyw_mondo_relaxed.owl mitochondrial spinocerebellar ataxia with epilepsy|MSCAE|SCAE UMLS:CN202060|UMLS:C1843851|Orphanet:254881|OMIM:607459|UMLS:C1843852 owl:Class MONDO:0019700 biolink:NamedThing primary bone dysplasia with multiple joint dislocations tmpaxzxjjyw_mondo_relaxed.owl primary osteodysplasia with multiple joint dislocations|primary skeletal dysplasia with multiple joint dislocations 2022-01-01 Orphanet:93441 Reason: out of scope. Term to consider: MONDO:0018230. MONDO:0018230 owl:Class MONDO:0013203 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 3 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the TCF4 gene. tmpaxzxjjyw_mondo_relaxed.owl Fuchs' endothelial dystrophy caused by mutation in TCF4|corneal dystrophy, Fuchs endothelial, late-onset|TCF4 Fuchs' endothelial dystrophy|FECD3|corneal dystrophy, Fuchs endothelial, 3|Fcd2 locus|corneal dystrophy, Fuchs endothelial, type 3 UMLS:C2750451|OMIM:613267|Orphanet:98974 owl:Class MONDO:0021575 biolink:NamedThing oocyte maturation defect 4 tmpaxzxjjyw_mondo_relaxed.owl oocyte maturation defect 4|OOMD4 OMIM:617743|UMLS:CN562785 owl:Class MONDO:0007992 biolink:NamedThing microcornea-glaucoma-absent frontal sinuses syndrome Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl hereditary microcornea, glaucoma, and absent frontal sinuses|microcornea, glaucoma, and absent frontal sinuses ICD10:Q15.8|MESH:C537552|UMLS:C1834935|Orphanet:2536|OMIM:156700|GARD:0003637 owl:Class HGNC:3571 biolink:NamedThing ACSL4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1113537 biolink:NamedThing Chlamydia/Chlamydophila group tmpaxzxjjyw_mondo_relaxed.owl PMID:10319462|PMID:21048221|PMID:11211265|PMID:23620152|PMID:21048222|GC_ID:11 ncbi_taxonomy owl:Class UBERON:0001591 biolink:NamedThing thymic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18829 biolink:NamedThing KLHL10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10001 biolink:NamedThing RGS5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000028 biolink:NamedThing cerebellum glutamatergic neuron Any glutamatergic neuron that is part of a cerebellum. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-25T00:24:10Z cell owl:Class MONDO:0010985 biolink:NamedThing epilepsy, familial adult myoclonic, 1 tmpaxzxjjyw_mondo_relaxed.owl FAME1|cortical myoclonic tremor with epilepsy, familial, 1|epilepsy, familial ADULT myoclonic, 1|benign adult familial myoclonic epilepsy 1 MESH:C563399|DOID:0111690|OMIM:601068|Orphanet:86814|UMLS:C1832841 owl:Class MONDO:0014293 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 58 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2p21-p12. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 58|DFNA58|deafness, autosomal dominant 58|autosomal dominant deafness 58|autosomal dominant nonsyndromic deafness type 58 OMIM:615654|ICD10:H90.3|DOID:0110582 owl:Class IAO:0000027 biolink:NamedThing data item An information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements.|a data item is an information content entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements. tmpaxzxjjyw_mondo_relaxed.owl data item owl:Class MONDO:0019387 biolink:NamedThing macrostomia-preauricular tags-external ophthalmoplegia syndrome Macrostomia-preauricular tags-external ophthalmoplegia syndrome combines macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It was described in nine members of a Brazilian family. It is a new phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206081|Orphanet:83619|ICD10:Q87.0 owl:Class MONDO:0003594 biolink:NamedThing mixed liposarcoma A malignant neoplasm characterized by the presence of a combination of liposarcomatous morphologic subtypes: myxoid/round cell and well differentiated/dedifferentiated liposarcoma or myxoid/round cell and pleomorphic liposarcoma. tmpaxzxjjyw_mondo_relaxed.owl mixed liposarcoma|mixed liposarcoma (morphologic abnormality) DOID:5703|UMLS:C0334472|NCIT:C4253|ICDO:8855/3 owl:Class MONDO:0010722 biolink:NamedThing X-linked retinal dysplasia tmpaxzxjjyw_mondo_relaxed.owl retinal dysplasia X-linked|retinal dysplasia, primary|PRD UMLS:C4275241|GARD:0004680|OMIM:312550|Orphanet:1852|SCTID:715240000|ICD10:Q14.1 https://rarediseases.info.nih.gov/diseases/4680/retinal-dysplasia-x-linked owl:Class MONDO:0023098 biolink:NamedThing extrasystoles short stature hyperpigmentation microcephaly tmpaxzxjjyw_mondo_relaxed.owl Char douglas Dungan syndrome GARD:0002213 https://rarediseases.info.nih.gov/diseases/2213/extrasystoles-short-stature-hyperpigmentation-microcephaly owl:Class MONDO:0006731 biolink:NamedThing drug-induced akathisia An uncomfortable feeling of inner restlessness and inability to stay still. It can be a side effect of psychotropic medications. tmpaxzxjjyw_mondo_relaxed.owl SCTID:230333002|NCIT:C78163|EFO:1000903|MedDRA:10001540|ICD10:G25.71|ICD9:333.99|MESH:D017109 owl:Class MONDO:0001976 biolink:NamedThing chorea gravidarum A rare movement disorder developed during pregnancy, characterized by involuntary jerky motion (chorea) and inability to maintain stable position of body parts (athetosis). rheumatic fever and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9) tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264746|ICD9:646.80|EFO:1001290|DOID:14483|MESH:D020150|SCTID:25113000 owl:Class MONDO:0025028 biolink:NamedThing vesicular stomatitis A viral disease caused by at least two distinct species (serotypes) in the vesiculovirus genus: vesicular stomatitis indiana virus and vesicular stomatitis new jersey virus. It is characterized by vesicular eruptions on the oral mucosa in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness. tmpaxzxjjyw_mondo_relaxed.owl Stomatitides, vesicular|vesicular Stomatitides|stomatitis, vesicular MESH:D054243|UMLS:C0266999|SCTID:36921006 owl:Class MONDO:0025086 biolink:NamedThing hip dysplasia, canine A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age. tmpaxzxjjyw_mondo_relaxed.owl canine hip dysplasia|dysplasia, canine hip UMLS:C0019556|MESH:D006619 owl:Class MONDO:0013812 biolink:NamedThing Baraitser-winter syndrome 2 Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene. tmpaxzxjjyw_mondo_relaxed.owl ACTG1 Baraitser-Winter cerebrofrontofacial syndrome|Baraitser-Winter syndrome type 2|BRWS2|Baraitser-winter syndrome 2|Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1|Baraitser-WINTER syndrome 2 UMLS:C3281235|Orphanet:2995|OMIM:614583 owl:Class MONDO:0033620 biolink:NamedThing myofibrillar myopathy 10 tmpaxzxjjyw_mondo_relaxed.owl MFM10 OMIM:619040 owl:Class MONDO:0003983 biolink:NamedThing synchronous bilateral breast carcinoma Carcinoma that is detected in one breast within two months from the diagnosis of carcinoma in the other breast. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40370|UMLS:C1515107|DOID:6742 owl:Class MONDO:0012282 biolink:NamedThing Al-Gazali syndrome An autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality. tmpaxzxjjyw_mondo_relaxed.owl Al Gazali syndrome|eye defects arachnodactyly cardiopathy|Al-Gazali syndrome|Al Gazali Al Talabani syndrome OMIM:609465|MESH:C536817|GARD:0010054|UMLS:C1836121|Orphanet:2725 https://rarediseases.info.nih.gov/diseases/10054/al-gazali-syndrome owl:Class MONDO:0030870 biolink:NamedThing premature ovarian failure 17 tmpaxzxjjyw_mondo_relaxed.owl POF17|premature ovarian failure 17 OMIM:619146 owl:Class MONDO:0007970 biolink:NamedThing melorheostosis Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities. tmpaxzxjjyw_mondo_relaxed.owl melorheostosis, isolated|Mel MedDRA:10050284|UMLS:C0025239|NCIT:C84887|SCTID:44697002|OMIM:155950|MESH:D008557|ICD10:M85.8|DOID:4253|GARD:0009474|ICD9:756.89|Orphanet:2485 https://rarediseases.info.nih.gov/diseases/9474/melorheostosis owl:Class MONDO:0005175 biolink:NamedThing aggressive insulitis Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes. tmpaxzxjjyw_mondo_relaxed.owl EFO:0002498 owl:Class HGNC:26262 biolink:NamedThing TTI2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009298 biolink:NamedThing GOMBO syndrome tmpaxzxjjyw_mondo_relaxed.owl GOMBO syndrome|Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia OMIM:233270|UMLS:C1856274|MESH:C537284|GARD:0002537 owl:Class MONDO:0009552 biolink:NamedThing mal de Meleda Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema. tmpaxzxjjyw_mondo_relaxed.owl mal de Meleda|MAL DE Meleda|MDM|keratosis palmoplantaris transgradiens of Siemens|keratosis palmoplantaris transgrediens of Siemens|Meleda disease|transgrediens palmoplantar keratoderma of Siemens SCTID:239069005|ICD9:757.39|GARD:0000092|UMLS:C0025221|OMIM:248300|ICD10:Q82.8|Orphanet:87503|DOID:0060862 owl:Class MONDO:0006109 biolink:NamedThing malignant biphasic mesothelioma A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features. tmpaxzxjjyw_mondo_relaxed.owl mixed mesothelioma|malignant biphasic mesothelioma, malignant|mesothelioma, biphasic, malignant (morphologic abnormality)|malignant biphasic mesothelioma|biphasic mesothelioma|mesothelioma, biphasic, malignant|malignant mixed mesothelioma EFO:1000124|UMLS:C0334515|ICDO:9053/3|DOID:4486|NCIT:C4282 owl:Class HGNC:13156 biolink:NamedThing ZNF81 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032802 biolink:NamedThing hearing loss, autosomal dominant 37 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant 37|DFNA37|DEAFNESS, AUTOSOMAL DOMINANT 37 OMIM:618533 owl:Class MONDO:0010987 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 8 An autosomal recessive nonsyndromic deafness that has material basis in mutation in the TMPRSS3 gene on chromosome 21q22. tmpaxzxjjyw_mondo_relaxed.owl deafness, childhood-onset neurosensory, autosomal recessive 8|deafness, autosomal recessive 8|autosomal recessive nonsyndromic deafness type 8|neurosensory nonsyndromic recessive deafness 8|autosomal recessive nonsyndromic deafness 8|DFNB10|DFNB8|childhood-onset neurosensory autosomal recessive deafness 8|NRSD8|deafness, autosomal recessive type 8|autosomal recessive deafness 8|autosomal recessive deafness 10|deafness, autosomal recessive 10 OMIM:601072|UMLS:C1832827|ICD10:H90.3|DOID:0110527 owl:Class HGNC:3618 biolink:NamedThing FCGR2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0002078 biolink:NamedThing hollow A quality inhering in a bearer by virtue of the bearer's having an empty space or cavity within. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:72273 biolink:NamedThing Thiotrichales tmpaxzxjjyw_mondo_relaxed.owl Thiomicrospira group|Thiothrix/Francisella group PMID:16280474|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0005355 biolink:NamedThing coronary restenosis Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0948480|EFO:0004224|MESH:D023903|DOID:4247 owl:Class MONDO:0006715 biolink:NamedThing coronary stenosis Narrowing of the coronary artery lumen diameter. tmpaxzxjjyw_mondo_relaxed.owl coronary artery stenosis UMLS:C0242231|SCTID:233970002|MESH:D023921|NCIT:C80427|MedDRA:10011089|EFO:1000882|DOID:4248 owl:Class HGNC:8943 biolink:NamedThing SERPINI1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011824 biolink:NamedThing autism, susceptibility to, 8 tmpaxzxjjyw_mondo_relaxed.owl AUTS2, formerly|AUTS2|AUTS8|autism, susceptibility to, 8 OMIM:607373 owl:Class MONDO:0001054 biolink:NamedThing double pterygium tmpaxzxjjyw_mondo_relaxed.owl SCTID:41564009|ICD9:372.44|DOID:10525|UMLS:C0155157 owl:Class MONDO:0005242 biolink:NamedThing empyema An accumulation of pus in a body cavity, usually the pleural space. tmpaxzxjjyw_mondo_relaxed.owl collection of pus EFO:0003097|MESH:D004653|NCIT:C34572|SCTID:312682007|ICD9:510 owl:Class MONDO:0015732 biolink:NamedThing intermediate anorectal malformation Intermediate anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying between the pubococcygeal line and the ischial tuberosity (e.g., rectovestibular and rectovaginal fistulas in the female, rectobulbar fistula in the male, and anal agenesis). Patients may present with failure to pass meconium, failure to thrive, and recurrent urinary tract infections. tmpaxzxjjyw_mondo_relaxed.owl SCTID:734024009|ICD10:Q42.1|Orphanet:171208|ICD10:Q42.0 owl:Class MONDO:0006303 biolink:NamedThing middle ear squamous cell carcinoma A rare squamous cell carcinoma that arises from the middle ear. tmpaxzxjjyw_mondo_relaxed.owl epidermoid carcinoma of middle Ear|squamous cell carcinoma of the middle Ear|middle ear squamous cell carcinoma|squamous cell carcinoma of middle ear|middle Ear epidermoid carcinoma|epidermoid carcinoma of the middle ear|epidermoid carcinoma of the middle Ear|squamous cell carcinoma of middle Ear EFO:1000378|DOID:5526|UMLS:C1334762|NCIT:C6086 owl:Class HP:0032039 biolink:NamedThing Abnormality of the ocular adnexa An anomaly of the adjacent structures (i.e., adnexa) of the eye, defined as the lacrimal apparatus, the extraocular muscles and the eyelids, eyelashes, eyebrows and the conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl 2018-09-03 00:17:49+00:00 peter human_phenotype owl:Class HP:0025423 biolink:NamedThing Abnormal larynx morphology Any anomaly of the structure of the larynx. tmpaxzxjjyw_mondo_relaxed.owl 2017-04-23 12:44:49+00:00 HPO:probinson human_phenotype owl:Class MONDO:0032859 biolink:NamedThing spermatogenic failure 40 tmpaxzxjjyw_mondo_relaxed.owl SPGF40|SPERMATOGENIC FAILURE 40 OMIM:618664 owl:Class MONDO:0020220 biolink:NamedThing corneoiridogoniodysgenesis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98636 owl:Class MONDO:0008161 biolink:NamedThing otodental syndrome Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. tmpaxzxjjyw_mondo_relaxed.owl otodental dysplasia|otodental syndrome|chromosome 11q13 deletion syndrome|otodental syndrome with coloboma|globodontia|oculootodental syndrome UMLS:C1833693|Orphanet:99806|GARD:0004168|Orphanet:2791|UMLS:C2750325|OMIM:166750|ICD10:K00.2|SCTID:707310009 owl:Class MONDO:0007047 biolink:NamedThing punctate palmoplantar keratoderma type III Acrokeratoelastoidosis of Costa is a rare dermatosis characterized by small, firm papules or plaques (resembling warts) on the sides of the hands and feet. These stationary and asymptomatic lesions appear generally at puberty, or sometimes later tmpaxzxjjyw_mondo_relaxed.owl PPKP3|palmoplantar keratoderma, punctate type III|ake|punctate palmoplantar keratoderma type 3|TIA|punctate palmoplantar hyperkeratosis type 3|near-total intestinal aganglionosis|acrokeratoelastoidosis of Costa|collagenous plaques of hand and feet|rare form of Hirschsprung's disease|acrokeratoelastoidosis|collagenous plaques of hands and feet|aganglionosis, total colonic|NTIA|palmoplantar keratoderma, punctate type 3 UMLS:C0545044|GARD:0000133|MESH:C535653|ICD10:Q82.8|Orphanet:38|DOID:0060362|GARD:0000125|EFO:1000758|OMIM:101850 Unclear as to whether this is inherited or acquired see https://github.com/Orphanet/ORDO/issues/3 owl:Class MONDO:0016539 biolink:NamedThing atypical hypotonia-cystinuria syndrome A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalised hypotonia, poor feeding, growth retardation, and minor facial dysmorphism). tmpaxzxjjyw_mondo_relaxed.owl atypical HCS OMIM:606407|Orphanet:238523|ICD10:E72.0|UMLS:CN201620 owl:Class MONDO:0032651 biolink:NamedThing fibrosis, neurodegeneration, and cerebral angiomatosis tmpaxzxjjyw_mondo_relaxed.owl FINCA|FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS OMIM:618278 owl:Class UBERON:0009522 biolink:NamedThing lateral lingual swelling epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008036 biolink:NamedThing myasthenia, limb-girdle, autoimmune tmpaxzxjjyw_mondo_relaxed.owl myasthenia, limb-girdle, autoimmune|myasthenia gravis, limb-girdle UMLS:C1834635|OMIM:159400|Orphanet:589|GARD:0008575|MESH:C563552 owl:Class HGNC:16732 biolink:NamedThing MCEE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015801 biolink:NamedThing hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:178396|UMLS:CN200394 owl:Class MONDO:0023071 biolink:NamedThing enterovirus antenatal infection tmpaxzxjjyw_mondo_relaxed.owl GARD:0002130 https://rarediseases.info.nih.gov/diseases/2130/enterovirus-antenatal-infection owl:Class GO:0009725 biolink:NamedThing response to hormone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hormone stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to hormone stimulus|growth regulator owl:Class MONDO:0060629 biolink:NamedThing neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive|NDHMSR UMLS:CN737161|OMIM:617820 owl:Class MONDO:0044313 biolink:NamedThing intellectual disability, autosomal recessive 60 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 60|MRT60|intellectual disability, autosomal recessive 60 OMIM:617432 owl:Class MONDO:0043152 biolink:NamedThing negative rheumatoid factor polyarthritis tmpaxzxjjyw_mondo_relaxed.owl rheumatoid factor negative erosive chronic polyarthritis|rheumatoid factor-negative polyarthritis|RF-ve CP GARD:0003931|MESH:C538347|UMLS:C2931825 owl:Class MONDO:0016557 biolink:NamedThing leukonychia totalis Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. tmpaxzxjjyw_mondo_relaxed.owl hereditary white nails|total leukonychia SCTID:763792009|ICD10:Q84.4|GARD:0009759|MESH:C535889|OMIM:151600|Orphanet:2387 owl:Class MONDO:0011427 biolink:NamedThing Ascaris lumbricoides infection, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl Ascaris lumbricoides infection, susceptibility to|ascariasis, susceptibility to OMIM:604291 owl:Class HP:0000508 biolink:NamedThing Ptosis The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). tmpaxzxjjyw_mondo_relaxed.owl Blepharoptosis|Eye drop|Eyelid ptosis|Drooping upper eyelid MSH:D001763|SNOMEDCT_US:11934000|UMLS:C0005745 human_phenotype owl:Class MONDO:0001569 biolink:NamedThing acoustic neuroma A type of benign brain tumor that begins in the Schwann cells, which produce the myelin that protects the acoustic nerve - the nerve of hearing. tmpaxzxjjyw_mondo_relaxed.owl acoustic schwannoma|acoustic neurilemmoma|neurilemoma, acoustic|acoustic neurilemoma|acoustic neurinoma|neurinoma of the acoustic nerve|acoustic Neuroma|vestibular neurilemmoma|vestibular schwannoma|Neuroma, acoustic|acoustic tumor MESH:D009464|DOID:12689|GARD:0000223|SCTID:126949007|NCIT:C3276|CSP:2012-6947 Editor note: check relationship to vestibular schwannoma (disease) owl:Class MONDO:0014940 biolink:NamedThing neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset tmpaxzxjjyw_mondo_relaxed.owl neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset|NADGP|neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; NADGP UMLS:C4310693|OMIM:617145 owl:Class CHEBI:60832 biolink:NamedThing tubulin modulator Any substance that interacts with tubulin to inhibit or promote polymerisation of microtubules. tmpaxzxjjyw_mondo_relaxed.owl tubulin modulators owl:Class MONDO:0000498 biolink:NamedThing arteritic anterior ischemic optic neuropathy An anterior ischemic neuropathy that is the cause of vision loss that occurs in temporal arteritis (aka giant cell arteritis) tmpaxzxjjyw_mondo_relaxed.owl arteritic aion DOID:0050863|SCTID:733506009|UMLS:C2242711 owl:Class MONDO:0006649 biolink:NamedThing anterior ischemic optic neuropathy Anterior ischemic optic neuropathy (AION) is an eye disease characterized by infarction of the optic disk leading to vision loss. It can be nonarteritic (nonarteritic anterior ischemic optic neuropathy or NAION) or arteritic, the latter being associated with giant cell arteritis (GCA; often termed temporal arteritis). Vision loss with both varieties is typically rapid (over minutes, hours, or days) and painless. Symptoms such as a general feeling of being unwell (malaise), muscle aches and pains, headaches over the temple, pain when combing hair, pain in the jaw after chewing, and tenderness over the temporal artery (one of the major arteries of the head) may be present with giant cell arteritis. At exam, visual acuity is reduced and the optic disc is swollen. In both subtypes, visual field examination is often reduced in the inferior and central visual fields. The visual loss is usually permanent, with some recovery possibly occurring within the first weeks or months. The arteritic variety is treated with corticosteroids. Treatment of the nonarteritic variety withaspirinor corticosteroids has not been helpful. tmpaxzxjjyw_mondo_relaxed.owl aion|ischemic optic neuropathy|optic disc infarction leading to vision loss GARD:0009790|ICD10:H47.01|UMLS:C0155305|MESH:D018917|EFO:1000809|SCTID:404659001|DOID:12010|MedDRA:10068250|ICD9:377.41 https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy owl:Class MONDO:0018491 biolink:NamedThing 3-phosphoglycerate dehydrogenase deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:422519|ICD9:270.7|SCTID:303098002|UMLS:C0580190 owl:Class UBERON:0004407 biolink:NamedThing distal epiphysis of radius tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004385 biolink:NamedThing epiphysis of radius tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033635 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 3 tmpaxzxjjyw_mondo_relaxed.owl MC4DN3 OMIM:619046 owl:Class MONDO:0008557 biolink:NamedThing Paris-Trousseau thrombocytopenia Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis. tmpaxzxjjyw_mondo_relaxed.owl chromosome 11q23 deletion syndrome|thrombocytopenia, Paris-TROUSSEAU type|TCPT|thrombocytopenia Paris-Trousseau type|Paris-Trousseau syndrome ICD10:D69.4|UMLS:C1861178|UMLS:C1956093|GARD:0004224|Orphanet:851|OMIM:188025 https://rarediseases.info.nih.gov/diseases/4224/paris-trousseau-thrombocytopenia owl:Class UBERON:0007692 biolink:NamedThing nucleus of thalamus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019764 biolink:NamedThing laryngotracheoesophageal cleft type 4 Laryngo-tracheo-esophageal cleft (LC) type 4 is a serious congenital respiratory tract anomaly characterized by a cleft extending into the thoracic trachea and possibly down to the carina, with respiratory distress. tmpaxzxjjyw_mondo_relaxed.owl LTEC4|laryngo-tracheo-esophageal cleft type 4|LTEC IV UMLS:CN206699|Orphanet:93941|ICD10:Q32.1 owl:Class MONDO:0011704 biolink:NamedThing glaucoma 1, open angle, B tmpaxzxjjyw_mondo_relaxed.owl GLC1B|glaucoma 1, open angle, B OMIM:606689 owl:Class UBERON:0014793 biolink:NamedThing musculature of pectoral complex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005145 biolink:NamedThing sporadic amyotrophic lateral sclerosis Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history. tmpaxzxjjyw_mondo_relaxed.owl OMIM:105400|OMIM:608030|EFO:0001357 owl:Class UBERON:0005475 biolink:NamedThing sigmoid sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0017635 biolink:NamedThing paired venous dural sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002550 biolink:NamedThing fibroblast of the conjunctiva A fibroblast that is part of the conjuctiva of the eye. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-02-28T05:03:44Z cell owl:Class HGNC:5344 biolink:NamedThing ICAM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0007617 biolink:NamedThing mating behavior The behavioral interactions between organisms for the purpose of mating, or sexual reproduction resulting in the formation of zygotes. tmpaxzxjjyw_mondo_relaxed.owl mating behaviour owl:Class MONDO:0044791 biolink:NamedThing combined hepatocellular carcinoma and cholangiocarcinoma A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the liver and intrahepatic biliary tract|Hepatocholangiocarcinoma|combined hepatocellular cancer and intrahepatic bile duct cancer (cholangiocarcinoma)|Cholangiohepatoma|combined hepatocellular cancer and cholangiocarcinoma (bile duct cancer)|liver and intrahepatic biliary tract carcinoma|Mixed hepatocellular cholangiocarcinoma|combined hepatocellular carcinoma and cholangiocarcinoma|carcinoma of liver and intrahepatic biliary tract NCIT:C3828|SCTID:274902006|Orphanet:529852 owl:Class MONDO:0012398 biolink:NamedThing retinal cone dystrophy 3A tmpaxzxjjyw_mondo_relaxed.owl cone dystrophy with night blindness and supernormal Rod responses, Pde6H-related|retinal cone dystrophy 3A|RCD3A|cone dystrophy with night blindness and supernormal rod responses PDE6H-related|achromatopsia 6|retinal cone dystrophy type 3A UMLS:C1864900|MESH:C566483|GARD:0010648|Orphanet:49382|OMIM:610024 Editor note: TODO logical defs for achromatopsias https://rarediseases.info.nih.gov/diseases/10648/retinal-cone-dystrophy-3a owl:Class GO:1904255 biolink:NamedThing negative regulation of iron ion transmembrane transporter activity Any process that stops, prevents or reduces the frequency, rate or extent of an iron transmembrane transporter activity. tmpaxzxjjyw_mondo_relaxed.owl down regulation of iron channel activity|down-regulation of iron-specific channel activity|inhibition of iron channel activity|downregulation of iron channel activity|downregulation of iron cation channel activity|inhibition of iron-specific channel activity|downregulation of iron-specific channel activity|negative regulation of iron-specific channel activity|negative regulation of iron cation channel activity|down regulation of iron cation channel activity|inhibition of iron cation channel activity|down-regulation of iron cation channel activity|down-regulation of iron channel activity|negative regulation of iron channel activity|down regulation of iron-specific channel activity owl:Class MONDO:0015697 biolink:NamedThing immunoglobulin heavy chain deficiency tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398692|SCTID:234539005|ICD10:D80.8|ICD9:279.03|Orphanet:169110 owl:Class CL:1000276 biolink:NamedThing smooth muscle fiber of duodenum A smooth muscle cell that is part of the duodenum. tmpaxzxjjyw_mondo_relaxed.owl non-striated muscle fiber of duodenum FMA:15058 cell owl:Class MONDO:0016291 biolink:NamedThing craniosynostosis, Herrmann-Opitz type Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987. tmpaxzxjjyw_mondo_relaxed.owl Herrmann Opitz craniosynostosis Orphanet:2145|UMLS:CN226893|GARD:0002671|ICD10:Q75.0 owl:Class MONDO:0033664 biolink:NamedThing Kilquist syndrome An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. They show poor overall growth associated with gastrointestinal anomalies such as gastroesophageal reflux or midgut malrotation, as well as profound global developmental delay with inability to sit or speak. Tear, sweat, and saliva production is also impaired, causing dry mouth and recurrent bronchial mucus plugging. Some of the clinical features are reminiscent of cystic fibrosis. tmpaxzxjjyw_mondo_relaxed.owl KILQS OMIM:619080 owl:Class MONDO:0003170 biolink:NamedThing gliofibroma An astrocytic tumor affecting young people. Morphologically, it is characterized by the presence of collagenous tissue surrounding neoplastic astrocytes. In some cases the collagen is produced by the tumor cells (desmoplastic astrocytoma), whereas in others it is produced by mesenchymal cells (mixed glioma/fibroma). tmpaxzxjjyw_mondo_relaxed.owl gliofibroma (morphologic abnormality) DOID:4856|ICDO:9442/1|UMLS:C1266178|NCIT:C5419 owl:Class MONDO:0010388 biolink:NamedThing rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked tmpaxzxjjyw_mondo_relaxed.owl ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked|ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked|rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked|rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked|RESDX OMIM:300643|MESH:C564467|UMLS:C1845070|Orphanet:163721 owl:Class MONDO:0015587 biolink:NamedThing rolandic epilepsy-speech dyspraxia syndrome Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed. tmpaxzxjjyw_mondo_relaxed.owl OMIM:300643|OMIM:245570|UMLS:CN199957|Orphanet:163721 owl:Class UBERON:0004527 biolink:NamedThing alveolar process of maxilla tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016579 biolink:NamedThing dominant hypophosphatemia with nephrolithiasis or osteoporosis tmpaxzxjjyw_mondo_relaxed.owl OMIM:612287|UMLS:CN228623|Orphanet:244305|OMIM:612286 owl:Class MONDO:0008196 biolink:NamedThing parastremmatic dwarfism Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. tmpaxzxjjyw_mondo_relaxed.owl parastremmatic dwarfism|Parastremmatic dysplasia GARD:0004222|DOID:0111539|OMIM:168400|SCTID:722210007|MESH:C537172|Orphanet:2646|ICD10:Q87.1 https://rarediseases.info.nih.gov/diseases/4222/parastremmatic-dwarfism owl:Class MONDO:0013094 biolink:NamedThing glioma susceptibility 5 tmpaxzxjjyw_mondo_relaxed.owl GLM5|glioma susceptibility 5 OMIM:613030|Orphanet:182067 owl:Class MONDO:0004482 biolink:NamedThing fibroosseous pseudotumor of the digits A non-neoplastic soft tissue disorder characterized by the localized formation of reactive fibrous and bone tissues. It usually occurs in the subcutaneous tissue of the proximal phalanx. Less frequently, it involves the toe. It presents with swelling and pain of the affected area. The prognosis is excellent. However, incomplete excision may lead to the re-growth of the lesion. tmpaxzxjjyw_mondo_relaxed.owl fibroosseous pseudotumor of digits|fibroosseous pseudotumor of the digits|fibroosseous digital pseudotumor ICD9:215.9|NCIT:C6573|UMLS:C1333612|DOID:8153|SCTID:403991009 owl:Class MONDO:0000858 biolink:NamedThing neuronal intestinal dysplasia tmpaxzxjjyw_mondo_relaxed.owl SCTID:253783001|OMIM:601223|UMLS:C0345244|ICD9:751.5|DOID:0080072|OMIM:243180 owl:Class HGNC:6416 biolink:NamedThing KRT14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0061844 biolink:NamedThing antimicrobial humoral immune response mediated by antimicrobial peptide An immune response against microbes mediated by anti-microbial peptides in body fluid. tmpaxzxjjyw_mondo_relaxed.owl antimicrobial peptide-mediated antimicrobial humoral response|peptide-mediated antimicrobial humoral response owl:Class MONDO:0020593 biolink:NamedThing trichoblastoma A benign hair follicle neoplasm with trichoblastic differentiation. It usually presents as a solitary papular lesion It most often presents on the head and neck area, but it may develop in any anatomic site containing hair follicles. Because of its benign nature, treatment usually is not required, provided that the diagnosis has been established with certainty. tmpaxzxjjyw_mondo_relaxed.owl Brooke's tumor|trichoepithelioma, benign|trichogenic trichoblastoma|trichoepithelioma|trichoblastoma|trichogenic adnexal tumor ICDO:8100/0|NCIT:C27132 owl:Class NBO:0000006 biolink:NamedThing learning and/or memory behavior "Behavior related to the acquisition and processing of information and/or the storage and retrieval of this information over time." [GO:jic] tmpaxzxjjyw_mondo_relaxed.owl learning and/or memory behaviour owl:Class UBERON:0004793 biolink:NamedThing secretion of exocrine pancreas tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025513 biolink:NamedThing autoimmune urticaria An autoimmune form of urticaria (disease). tmpaxzxjjyw_mondo_relaxed.owl autoimmune urticaria (disease)|autoimmune urticaria ICD9:708.8|UMLS:C1304191|SCTID:402397006 owl:Class NCBITaxon:7088 biolink:NamedThing Lepidoptera tmpaxzxjjyw_mondo_relaxed.owl moths|butterflies and moths GC_ID:1 ncbi_taxonomy owl:Class MONDO:0009957 biolink:NamedThing Reese retinal dysplasia tmpaxzxjjyw_mondo_relaxed.owl Reese retinal dysplasia GARD:0010566|MESH:C564854|OMIM:266400|UMLS:C1849450 https://rarediseases.info.nih.gov/diseases/10566/reese-retinal-dysplasia owl:Class MONDO:0005947 biolink:NamedThing rickettsial pneumonia Pneumonia caused by infection with bacteria of the family rickettsiaceae. tmpaxzxjjyw_mondo_relaxed.owl Rickettsiaceae caused pneumonia|Rickettsiaceae pneumonia SCTID:233621003|MESH:D011022|UMLS:C0032307|ICD9:484.8|EFO:0007472 owl:Class UBERON:0003585 biolink:NamedThing dermis connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001747 biolink:NamedThing parenchyma of thyroid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:20626 biolink:NamedThing CHD7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:55746 biolink:NamedThing Panagrolaimoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030927 biolink:NamedThing myofibrillar myopathy 11 tmpaxzxjjyw_mondo_relaxed.owl myofibrillar myopathy 11|myopathy, congenital, with eccentric cores|MFM11 OMIM:619178 owl:Class MONDO:0044305 biolink:NamedThing ectodermal dysplasia 13, hair/tooth type tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia 13, hair/tooth type|ECTD13 OMIM:617392|UMLS:C4479322|DOID:0111650 owl:Class HGNC:11445 biolink:NamedThing STXBP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006477 biolink:NamedThing undifferentiated ovarian carcinoma An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor. tmpaxzxjjyw_mondo_relaxed.owl undifferentiated ovarian carcinoma|ovarian undifferentiated carcinoma|anaplastic carcinoma of ovary|undifferentiated carcinoma of the ovary|anaplastic carcinoma of the ovary|ovary undifferentiated carcinoma|undifferentiated carcinoma of ovary|undifferentiated ovarian cancer|anaplastic ovarian carcinoma EFO:1000605|UMLS:C0346167|SCTID:254856004|NCIT:C4509 owl:Class MONDO:0011254 biolink:NamedThing brachydactyly, intraventricular septal defect, and deafness tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, intraventricular septal defect, and deafness OMIM:602561|UMLS:C1865182|MESH:C566521 owl:Class MONDO:0014653 biolink:NamedThing retinitis pigmentosa 72 Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene. tmpaxzxjjyw_mondo_relaxed.owl ZNF408 retinitis pigmentosa|retinitis pigmentosa caused by mutation in ZNF408|retinitis pigmentosa type 72|retinitis pigmentosa 72|RP72 OMIM:616469|UMLS:C4225315|ICD10:H35.5|DOID:0110395 owl:Class NCBITaxon:2601529 biolink:NamedThing Tetramitia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002411 biolink:NamedThing narcissistic personality disorder A disorder characterized by an enduring pattern of grandiose beliefs and arrogant behavior together with an overwhelming need for admiration and a lack of empathy for (and even exploitation of) others. tmpaxzxjjyw_mondo_relaxed.owl DOID:2745|ICD9:301.81|ICD10:F60.81|NCIT:C92635|SCTID:80711002 owl:Class MONDO:0009851 biolink:NamedThing peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain tmpaxzxjjyw_mondo_relaxed.owl peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain UMLS:C1850022|MESH:C564894|OMIM:260970 owl:Class MONDO:0031002 biolink:NamedThing Baralle-Macken syndrome tmpaxzxjjyw_mondo_relaxed.owl neurodevelopmental disorder with cataracts and variable microcephaly|BARMACS OMIM:619255 owl:Class HGNC:7643 biolink:NamedThing NARS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011318 biolink:NamedThing Tonoki syndrome tmpaxzxjjyw_mondo_relaxed.owl short stature, brachydactyly, nail dysplasia and mental retardation|short stature, brachydactyly, nail dysplasia and intellectual disability|Tonoki syndrome OMIM:603396|UMLS:C1863918|GARD:0010219|MESH:C536967 https://rarediseases.info.nih.gov/diseases/10219/tonoki-syndrome owl:Class MONDO:0009368 biolink:NamedThing urofacial syndrome type 1 tmpaxzxjjyw_mondo_relaxed.owl urofacial syndrome|urofacial syndrome 1|Ochoa syndrome|facial palsy, partial, with urinary abnormalities|inverted smile and occult neuropathic bladder|UFS1|hydronephrosis with peculiar Facial expression|urofacial syndrome type 1 OMIM:236730 owl:Class MONDO:0014403 biolink:NamedThing short stature due to GHSR deficiency Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported. tmpaxzxjjyw_mondo_relaxed.owl GHDP|ghrelin receptor deficiency|short stature due to growth hormone secretagogue receptor deficiency|growth hormone deficiency, isolated partial ICD10:E34.3|OMIM:615925|SCTID:766817004|Orphanet:314811 owl:Class ENVO:01000266 biolink:NamedThing water vapour Water vapour is a vapour which is the gas phase of water. tmpaxzxjjyw_mondo_relaxed.owl aqueous vapor|water vapor|aqueous vapour owl:Class MONDO:0016476 biolink:NamedThing Beckwith-Wiedemann syndrome due to CDKN1C mutation tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.3|Orphanet:231120|UMLS:CN201471|OMIM:130650 owl:Class HGNC:4867 biolink:NamedThing HERC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030296 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 4 tmpaxzxjjyw_mondo_relaxed.owl MMIHS4|megacystis-microcolon-intestinal hypoperistalsis syndrome 4 OMIM:619365 owl:Class MONDO:0054804 biolink:NamedThing microcephaly 21, primary, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl MCPH21|microcephaly 21, PRIMARY, autosomal recessive OMIM:617983|UMLS:CN244930 owl:Class MONDO:0003272 biolink:NamedThing mixed epithelial stromal tumor tmpaxzxjjyw_mondo_relaxed.owl mixed epithelial stromal tumour DOID:5088 owl:Class MONDO:0011239 biolink:NamedThing colobomatous macrophthalmia-microcornea syndrome tmpaxzxjjyw_mondo_relaxed.owl MACOM syndrome|macrophthalmia, colobomatous, with microcornea|MACOM MESH:C566533|Orphanet:468672|OMIM:602499|UMLS:C1865286 owl:Class MONDO:0004186 biolink:NamedThing cranial nodular fasciitis A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the cranium. This is an osteolytic lesion. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl cranial pseudosarcomatous fasciitis|cranial nodular fasciitis NCIT:C27248|DOID:7326|UMLS:C1333162 owl:Class NCBITaxon:6187 biolink:NamedThing Schistosoma intercalatum tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002942 biolink:NamedThing sebaceous basal cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl skin basosebaceous basal cell carcinoma DOID:4286 owl:Class CL:0000186 biolink:NamedThing myofibroblast cell An animal cell that has characteristics of both a fibroblast cell and a smooth muscle cell. tmpaxzxjjyw_mondo_relaxed.owl MFB Myofibroblasts are alpha-SMA-positive, CD34-negative, CD45-negative. They are reportedly capable of secreting IL-1beta, IL-6, and TNF-alpha. cell owl:Class UBERON:8410035 biolink:NamedThing medullary arteriole of lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0000483 biolink:NamedThing nc_primary_transcript A primary transcript that is never translated into a protein. tmpaxzxjjyw_mondo_relaxed.owl nc primary transcript|noncoding primary transcript owl:Class MONDO:0012244 biolink:NamedThing prostate cancer, hereditary, 5 tmpaxzxjjyw_mondo_relaxed.owl HPC5|prostate cancer, hereditary, type 5|prostate cancer, hereditary, 5 Orphanet:1331|MESH:C563744|OMIM:609299|UMLS:C1836436 owl:Class MONDO:0007159 biolink:NamedThing arthrogryposis-like hand anomaly-sensorineural deafness syndrome Arthrogryposis-like hand anomaly-sensorineural deafness syndrome is characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed. tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis-like hand anomaly and sensorineural deafness|distal arthrogryposis type 6|arthrogryposis and sensorineural deafness|DA6|arthrogryposis, distal, type 6|familial hand abnormality and sensori-neural deafness GARD:0000784|Orphanet:1144|UMLS:C1862471|OMIM:108200|SCTID:720515009|ICD10:Q68.8|MESH:C535386 owl:Class HP:0010668 biolink:NamedThing Abnormality of the zygomatic bone An abnormality of the zygomatic bone. tmpaxzxjjyw_mondo_relaxed.owl Anomaly of the zygomatic bone|Abnormality of the cheekbone|Deformity of the zygomatic bone|Deformity of the cheekbone|Malformation of the zygomatic bone UMLS:C4023749 peter 2010-02-26T08:13:11Z human_phenotype owl:Class HGNC:11573 biolink:NamedThing TAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007198 biolink:NamedThing hermaphrodite anatomical structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005754 biolink:NamedThing epilepsy with generalized tonic-clonic seizures A generalized tonic-clonic seizure. tmpaxzxjjyw_mondo_relaxed.owl epileptic seizures, tonic-clonic|tonic-clonic epilepsy|grand Mal epilepsy EFO:0007262|NCIT:C3022|UMLS:C0014549|DOID:7725|MESH:D004830|ICD9:345.10|SCTID:352818000 owl:Class HP:0002503 biolink:NamedThing Spinocerebellar tract degeneration tmpaxzxjjyw_mondo_relaxed.owl Spinocerebellar degeneration|Degeneration of the spinocerebellar tracts UMLS:C1866751 human_phenotype owl:Class HP:0003133 biolink:NamedThing Abnormality of the spinocerebellar tracts An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025647 human_phenotype owl:Class MONDO:0006710 biolink:NamedThing complex partial epilepsy A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and automatism may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8) tmpaxzxjjyw_mondo_relaxed.owl psychomotor epilepsy|epilepsy, psychomotor|Complex partial epileptic seizure ICD9:345.40|SCTID:407675009|DOID:12382|MESH:D017029|UMLS:C0085417|EFO:1000877 owl:Class MONDO:0010096 biolink:NamedThing tardive dyskinesia tmpaxzxjjyw_mondo_relaxed.owl tardive dyskinesia (disease)|tardive dyskinesia tardive dyskinesia (disease) HP:0040141|UMLS:C0686347|SCTID:102449007|OMIM:272620 owl:Class MONDO:0021025 biolink:NamedThing cirrhosis, familial, with antigenemia tmpaxzxjjyw_mondo_relaxed.owl cirrhosis, familial OMIM:118900 owl:Class MONDO:0002265 biolink:NamedThing stereotypic movement disorder Motor behavior that is repetitive, often seemingly driven, and nonfunctional. This behavior markedly interferes with normal activities or results in severe bodily self-injury. The behavior is not due to the direct physiological effects of a substance or a general medical condition. (dsm-iv, 1994) tmpaxzxjjyw_mondo_relaxed.owl stereotyped repetitive movements NOS (finding)|stereotyped repetitive movements|stereotypy habit disorder SCTID:5507002|MESH:D019956|ICD10:F98.4|DOID:2303|ICD9:307.3 owl:Class HGNC:25567 biolink:NamedThing ATAD3A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030063 biolink:NamedThing neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities tmpaxzxjjyw_mondo_relaxed.owl NEDSHBA|NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES|neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities OMIM:618922 owl:Class MONDO:0002461 biolink:NamedThing membranoproliferative glomerulonephritis Inflammation of the glomeruli characterized by deposits at the intraglomerular mesangium, resulting in thickening of the glomerular basement membrane, activation of complement, and impaired kidney function secondary to damaged glomeruli. tmpaxzxjjyw_mondo_relaxed.owl lobular glomerulonephritis|membranoproliferative glomerulonephritis (disease)|chronic glomerulonephritis, lobular|membranoproliferative glomerulonephritis membranoproliferative glomerulonephritis (disease) MESH:D015432|SCTID:80321008|HP:0000793|DOID:2920|NCIT:C34644|UMLS:C0017662 owl:Class MONDO:0013559 biolink:NamedThing Hermansky-Pudlak syndrome 7 Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene. tmpaxzxjjyw_mondo_relaxed.owl Hermansky-Pudlak syndrome caused by mutation in DTNBP1|DTNBP1 Hermansky-Pudlak syndrome|HPS7|Hermansky-Pudlak syndrome 7|Hermansky-Pudlak syndrome type 7 UMLS:C3279756|OMIM:614076|Orphanet:79430|Orphanet:231531|ICD10:E70.3|DOID:0060545 owl:Class MONDO:0003640 biolink:NamedThing verruciform xanthoma of skin A rare, benign wart-like skin lesion of unknown etiology that is usually found in the genital or perianal area and consists of hyperkeratosis and aggregates of foam cell macrophages. tmpaxzxjjyw_mondo_relaxed.owl skin verruciform xanthoma|verruciform xanthoma|cutaneous verruciform xanthoma|verruciform xanthoma (morphologic abnormality)|verruciform xanthoma of the skin ICD9:215.9|DOID:5769|NCIT:C4478|SCTID:254756007|UMLS:C0346054 owl:Class MONDO:0000707 biolink:NamedThing diversion colitis A colitis which can occur as a complication of ileostomy or colostomy. tmpaxzxjjyw_mondo_relaxed.owl ICD9:558.9|DOID:0060187|ICD10:K52|UMLS:C0267532|SCTID:51290000|ICD9:558 owl:Class MONDO:0011463 biolink:NamedThing polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. tmpaxzxjjyw_mondo_relaxed.owl polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive UMLS:C1858353|Orphanet:538096|MESH:C565773|OMIM:604431 owl:Class GO:0009152 biolink:NamedThing purine ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. tmpaxzxjjyw_mondo_relaxed.owl purine ribonucleotide synthesis|purine ribonucleotide biosynthesis|purine ribonucleotide formation|purine ribonucleotide anabolism owl:Class MONDO:0007816 biolink:NamedThing immune suppression tmpaxzxjjyw_mondo_relaxed.owl IS|Iscw|immune suppression|streptococcal cell wall antigen, suppression of immune response to OMIM:146850|UMLS:C1840264 Editor note: consider obsoleting owl:Class MONDO:0022986 biolink:NamedThing diffuse idiopathic pulmonary neuroendocrine cell hyperplasia A very rare condition characterized by generalized proliferation of pulmonary neuroendocrine cells. It manifests as progressive cough and dyspnea. It is considered a precursor for pulmonary carcinoid tumor. tmpaxzxjjyw_mondo_relaxed.owl DIP-NECH|DIPNECH|diffuse idiopathic pulmonary neuroendocrine cell hyperplasia UMLS:C1333291|GARD:0010780|NCIT:C7437 https://rarediseases.info.nih.gov/diseases/10780/diffuse-idiopathic-pulmonary-neuroendocrine-cell-hyperplasia owl:Class GO:0015872 biolink:NamedThing dopamine transport The directed movement of dopamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016059 biolink:NamedThing cleft lip/palate-deafness-sacral lipoma syndrome Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. tmpaxzxjjyw_mondo_relaxed.owl Lowry-Yong syndrome ICD10:Q87.8|UMLS:CN200748|SCTID:716007007|Orphanet:2003 owl:Class GO:0006487 biolink:NamedThing protein N-linked glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. tmpaxzxjjyw_mondo_relaxed.owl N-glycan metabolism|N-glycan biosynthesis|protein amino acid N-linked glycosylation owl:Class NCBITaxon:10240 biolink:NamedThing Poxviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030931 biolink:NamedThing proteasome-associated autoinflammatory syndrome 4 tmpaxzxjjyw_mondo_relaxed.owl proteasome-associated autoinflammatory syndrome 4|PRAAS4 OMIM:619183 owl:Class MONDO:0016670 biolink:NamedThing sickle cell-hemoglobin d disease syndrome tmpaxzxjjyw_mondo_relaxed.owl HbSD disease|sickle cell - hemoglobin D disease UMLS:C0272084|ICD10:D57.2|GARD:0012458|Orphanet:251370|MedDRA:10056724 owl:Class UBERON:0001518 biolink:NamedThing skin of wrist tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008344 biolink:NamedThing pulmonary edema of mountaineers, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl high altitude pulmonary hypertension|pulmonary edema of mountaineers, susceptibility to|pulmonary edema of mountaineers|HAPH OMIM:178400|ICD9:993.2|MESH:C535833|ICD9:416.8|SCTID:233954004|GARD:0008348 owl:Class MONDO:0023472 biolink:NamedThing chondrodysplasia situs inversus imperforate anus polydactyly tmpaxzxjjyw_mondo_relaxed.owl impossible syndrome GARD:0001299 https://rarediseases.info.nih.gov/diseases/1299/chondrodysplasia-situs-inversus-imperforate-anus-polydactyly owl:Class HGNC:25419 biolink:NamedThing ARL13B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009581 biolink:NamedThing intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome is characterised by moderate intellectual deficit, craniofacial dysmorphism (including broad nose with coloboma of the alea nasi, deep-set eyes, prognathism), hypergonadotropic hypogonadism, eunuchoid habitus, type 1 diabetes mellitus, and epilepsy. It has been described in four patients (three brothers and their sister). This syndrome is probably transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl Belgian type mental retardation syndrome|mental retardation syndrome, Belgian type|intellectual disability syndrome, Belgian type|Belgian type intellectual disability syndrome ICD10:Q87.8|Orphanet:3044|SCTID:722454003|UMLS:C1855303|GARD:0009811|MESH:C537447|OMIM:249599 https://rarediseases.info.nih.gov/diseases/9811/intellectual-disability-dysmorphism-hypogonadism-diabetes-mellitus-syndrome owl:Class MONDO:0012619 biolink:NamedThing intellectual disability, autosomal recessive 11 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 11|intellectual disability, autosomal recessive 11|MRT11 MESH:C567012|UMLS:C1970193|Orphanet:88616|OMIM:611097 owl:Class GO:1903109 biolink:NamedThing positive regulation of mitochondrial transcription Any process that activates or increases the frequency, rate or extent of transcription occuring in the mitochondrion. tmpaxzxjjyw_mondo_relaxed.owl up regulation of transcription from mitochondrial promoter|upregulation of mitochondrial transcription|up regulation of mitochondrial transcription|activation of mitochondrial transcription|up-regulation of transcription from mitochondrial promoter|positive regulation of mitochondrial transcription|positive regulation of transcription from mitochondrial promoter|up-regulation of mitochondrial transcription|activation of transcription from mitochondrial promoter|upregulation of transcription from mitochondrial promoter owl:Class MONDO:0022603 biolink:NamedThing brachydactyly tibial hypoplasia tmpaxzxjjyw_mondo_relaxed.owl GARD:0000977 https://rarediseases.info.nih.gov/diseases/977/brachydactyly-tibial-hypoplasia owl:Class MONDO:0012617 biolink:NamedThing intellectual disability, autosomal recessive 9 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 26|intellectual disability, autosomal recessive 26|intellectual disability, autosomal recessive 9|mental retardation, autosomal recessive 9|MRT9 UMLS:C1970195|MESH:C567014|Orphanet:88616|OMIM:611095 owl:Class NCBITaxon:241806 biolink:NamedThing Polypodiopsida tmpaxzxjjyw_mondo_relaxed.owl ferns|Filicopsida|Moniliformopses GC_ID:1|PMID:21652310 NCBITaxon:3290|NCBITaxon:1204415|NCBITaxon:3263 ncbi_taxonomy owl:Class CHEBI:36902 biolink:NamedThing chalcogen hydride tmpaxzxjjyw_mondo_relaxed.owl chalcogen hydrides|chalcogen hydride owl:Class HGNC:1445 biolink:NamedThing CALM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008138 biolink:NamedThing syndromic orbital border hypoplasia Syndromic orbital border hypoplasia is a rare disorder observed in two families to date and characterized by agenesis of the orbital margin, varying defects of the lacrimal passages, hypoplasia of the palpebral skin and tarsal plates and atresia of the nasolacrimal duct. tmpaxzxjjyw_mondo_relaxed.owl Urrets-Zavalia syndrome|orbital margin, hypoplasia OF UMLS:C4273912|MESH:C563490|UMLS:C1833795|OMIM:165600|SCTID:717337001|Orphanet:98606 owl:Class MONDO:0013949 biolink:NamedThing peroxisome biogenesis disorder 11A (Zellweger) tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder 11A (Zellweger)|peroxisome biogenesis disorder, complementation group H|PBD11A|peroxisome biogenesis disorder, complementation group 13 UMLS:C3554000|DOID:0080485|OMIM:614883 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0009385 biolink:NamedThing hyperleucine-Isoleucinemia tmpaxzxjjyw_mondo_relaxed.owl hyperleucine-Isoleucinemia UMLS:C0268574|OMIM:238340|MESH:C562674|SCTID:7046009 owl:Class MONDO:0018011 biolink:NamedThing juvenile overlap myositis Juvenile overlap myositis is a rare juvenile idiopathic inflammatory myopathy characterized by the association of inflammatory myositis (manifesting with acral erythema, progressive weakness of the limbs, pain, general fatigue, moodiness or crankiness) with clinical and/or laboratory features of other autoimmune diseases (e.g. systemic lupus erythematosus, localized scleroderma, diabetes). Cardiac involvement has been reported in some patients. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:329894|ICD10:M33.0|SCTID:766252004 owl:Class NCIT:C68749 biolink:NamedThing HER2/Neu Negative tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021180 biolink:NamedThing acquired xanthinuria Acquired xanthinuria is generally iatrogenic. Allopurinol treatment, administered to block XOR and prevent uric acid overproduction, leads to the accumulation of xanthine. Rarely, in the setting of aggressive chemotherapy with rapid tumor lysis or in patients with HPRT deficiency on allopurinol therapy, complications of renal failure can develop from xanthine crystal nephropathy. tmpaxzxjjyw_mondo_relaxed.owl acquired xanthinuria owl:Class MONDO:0010262 biolink:NamedThing hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses tmpaxzxjjyw_mondo_relaxed.owl hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response|hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses OMIM:300184|GARD:0009601|UMLS:C1970936|MESH:C537159 owl:Class CHEBI:33296 biolink:NamedThing alkali metal molecular entity A molecular entity containing one or more atoms of an alkali metal. tmpaxzxjjyw_mondo_relaxed.owl alkali metal molecular entities owl:Class MONDO:0019308 biolink:NamedThing junctional epidermolysis bullosa inversa Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina. tmpaxzxjjyw_mondo_relaxed.owl JEB-I|EBJ-I|inverse JEB Orphanet:79405|GARD:0002143|OMIM:226650|ICD10:Q81.8|UMLS:C2673609|UMLS:C2673610 owl:Class MONDO:0015446 biolink:NamedThing atypical coarctation of aorta Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta with varying involvement of the visceral and renal arteries that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, lower-limb claudication and that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis). tmpaxzxjjyw_mondo_relaxed.owl coarctation of the abdominal aorta|mid-aortic syndrome|mid-aortic dysplastic syndrome|Midaortic syndrome|middle aortic syndrome Orphanet:1456|SCTID:471268000|UMLS:C3496579|ICD10:Q25.1|UMLS:C3805239 owl:Class HP:0003241 biolink:NamedThing External genital hypoplasia Underdevelopment of part or all of the external reproductive organs. tmpaxzxjjyw_mondo_relaxed.owl Underdevelopment of external reproductive organs|Small genitalia|Hypogenitalism UMLS:C1855333 Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism. HP:0000788|HP:0003245 human_phenotype owl:Class MONDO:0009121 biolink:NamedThing von Voss-Cherstvoy syndrome Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia. tmpaxzxjjyw_mondo_relaxed.owl phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome|von Voss-Cherstvoy syndrome|phocomelia thrombocytopenia encephalocele and urogenital malformations|DK phocomelia syndrome|Von Voss Cherstvoy syndrome|phocomelia, thrombocytopenia, encephalocele, urogenital malformations SCTID:719021005|UMLS:C1857226|GARD:0001894|Orphanet:3439|MESH:C565618|ICD10:Q87.8|OMIM:223340 owl:Class MONDO:0006172 biolink:NamedThing conjunctival nevus A benign melanocytic neoplasm that arises from the conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl Nevus of the conjunctiva|conjunctival nevus|Nevus of conjunctiva DOID:0050906|EFO:1000205|NCIT:C4551|SCTID:255006004|UMLS:C0346363 owl:Class MONDO:0010763 biolink:NamedThing spermatogenic failure, Y-linked, 1 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure, Y-linked, 1|hypospermatogenesis|incomplete Sertoli cell-only syndrome|Sertoli cell-only syndrome, type 2|Sertoli cell-only syndrome, type 1|spermatogenic failure, Y-linked, type 1|SPGFY1|Sertoli cell-only syndrome, Y-linked DOID:0070186|OMIM:400042|Orphanet:1646 owl:Class MONDO:0033655 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 20 tmpaxzxjjyw_mondo_relaxed.owl MC4DN20 OMIM:619064 owl:Class MONDO:0032784 biolink:NamedThing neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements tmpaxzxjjyw_mondo_relaxed.owl NEDNEH|NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS OMIM:618497 owl:Class MONDO:0006787 biolink:NamedThing hidrocystoma A benign cystic proliferation of the sweat glands with apocrine or eccrine differentiation. It usually presents as a dome-shaped, cystic papular or nodular lesion usually in the face and neck. It is a unilocular or mutlilocular lesion lined by an inner and an outer layer of epithelium. Complete excision is usually curative. tmpaxzxjjyw_mondo_relaxed.owl eccrine hidrocystoma of skin|hidrocystoma|Hydrocystoma|apocrine cystadenoma|eccrine cystadenoma|hidrocystoma (morphologic abnormality)|apocrine/eccrine hidrocystoma|cystadenoma EFO:1000967|SCTID:254725004|MESH:D018251|MedDRA:10059019|DOID:3893|NCIT:C3760|ICD9:709.8|UMLS:C0206672|ICDO:8404/0 owl:Class MONDO:0032661 biolink:NamedThing neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia tmpaxzxjjyw_mondo_relaxed.owl NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA|NEDIDHA OMIM:618292 owl:Class UBERON:0003346 biolink:NamedThing mucosa of rectum tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:10357 biolink:NamedThing Betaherpesvirinae tmpaxzxjjyw_mondo_relaxed.owl Betaherpesviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001153 biolink:NamedThing gender dysphoria A marked difference between the individual's expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5) tmpaxzxjjyw_mondo_relaxed.owl transsexualism ICD9:302.50|Orphanet:459690|MESH:D000068116|SCTID:93461009|DOID:10919 owl:Class MONDO:0017505 biolink:NamedThing apodia, bilateral tmpaxzxjjyw_mondo_relaxed.owl congenital absence of foot, bilateral Orphanet:295107|ICD10:Q72.3 owl:Class MONDO:0033370 biolink:NamedThing developmental and epileptic encephalopathy, 61 tmpaxzxjjyw_mondo_relaxed.owl EIEE61|DEE61|epileptic encephalopathy, early infantile, 61 DOID:0080434|OMIM:617933|UMLS:CN244550 owl:Class MONDO:0012739 biolink:NamedThing microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome This syndrome is characterised by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct. tmpaxzxjjyw_mondo_relaxed.owl microtia with nasolacrimal duct imperforation and eye coloboma|Balikova-Vermeesch syndrome|microtia eye coloboma and imperforation of the nasolacrimal duct Orphanet:139450|ICD10:Q15.8|GARD:0010300|MESH:C567512|OMIM:611863|UMLS:C2678482 owl:Class MONDO:0008597 biolink:NamedThing trichorhinophalangeal syndrome, type III A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature. tmpaxzxjjyw_mondo_relaxed.owl trichorhinophalangeal syndrome, type III|trichorhinophalangeal syndrome type 3|trichorhinophalangeal syndrome, type 3|TRPS3|Sugio-Kajii syndrome|TRPS 3 OMIM:190351|Orphanet:77258|UMLS:C1860823|GARD:0007802|DOID:0080376 owl:Class MONDO:0100424 biolink:NamedThing acute myeloid leukemia, NRAS gene mutation Any acute myeloid leukemia that has the chromosomal anomaly NRAS gene mutation. (A change in the structure of the NRAS gene.) tmpaxzxjjyw_mondo_relaxed.owl AML, N-RAS Gene Mutation|AML, Neuroblastoma RAS Viral Oncogene Homolog Gene Mutation|AML, NRAS gene mutation NCIT:C41381 owl:Class GO:0009749 biolink:NamedThing response to glucose Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to glucose stimulus owl:Class MONDO:0020852 biolink:NamedThing spermatogenic failure 31 tmpaxzxjjyw_mondo_relaxed.owl SPGF31|spermatogenic failure 31 OMIM:618112 owl:Class MONDO:0003518 biolink:NamedThing mediastinum teratoma A teratoma that involves the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl teratoma of mediastinum|mediastinum teratoma DOID:5568|UMLS:C1334682|NCIT:C6438 owl:Class MONDO:0032680 biolink:NamedThing global developmental delay with or without impaired intellectual development tmpaxzxjjyw_mondo_relaxed.owl GDDI|GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT OMIM:618330 owl:Class MONDO:0002634 biolink:NamedThing liposarcoma of bone A very rare malignant adipose tissue neoplasm that arises from the bone. tmpaxzxjjyw_mondo_relaxed.owl liposarcoma of the bone|bone liposarcoma|liposarcoma of bone tissue|bone tissue liposarcoma|liposarcoma of bone UMLS:C1332581|DOID:3381|NCIT:C7598 owl:Class MONDO:0001210 biolink:NamedThing enophthalmos Abnormal recession of the eyeball within the eye socket. tmpaxzxjjyw_mondo_relaxed.owl enophthalmos|enophthalmos (disease) enophthalmos (disease) DOID:11175|ICD9:376.50|ICD10:H05.40|SCTID:80093006|ICD10:H05.4|HP:0000490|UMLS:C0014306|ICD9:376.5|NCIT:C79552|MESH:D015841 owl:Class MONDO:0006408 biolink:NamedThing sex hormone-producing adrenal cortex adenoma A rare adenoma of the adrenal cortex that produces androgens or estrogens. tmpaxzxjjyw_mondo_relaxed.owl Sex hormone producing adrenal cortex adenoma|Sex hormone producing adrenal cortical adenoma NCIT:C48452|EFO:1000523|UMLS:C1710067 owl:Class MONDO:0008159 biolink:NamedThing postmenopausal osteoporosis Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency. tmpaxzxjjyw_mondo_relaxed.owl osteoporosis, postmenopausal|bone mineral density quantitative trait locus EFO:0003854|OMIM:166710|UMLS:C0029458|SCTID:102447009|MESH:D015663 owl:Class MONDO:0008261 biolink:NamedThing hereditary sclerosing poikiloderma, Weary type tmpaxzxjjyw_mondo_relaxed.owl poikiloderma, hereditary sclerosing OMIM:173700|MESH:C562824|ICD10:Q82.8|Orphanet:221039 owl:Class HGNC:30832 biolink:NamedThing TRAPPC9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1552 biolink:NamedThing CBX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003157 biolink:NamedThing disappearing bone disease Syndromes of bone destruction where the cause is not obvious such as neoplasia, infection, or trauma. The destruction follows various patterns: massive (Gorham disease), multicentric (hajdu-cheney syndrome), or carpal/tarsal. tmpaxzxjjyw_mondo_relaxed.owl Gorham's disease|essential osteolysis|Gorham-Stout syndrome|phantom bone disease|massive osteolysis UMLS:C0029436|SCTID:240161003|ICD9:733.09|DOID:4837 owl:Class MONDO:0023246 biolink:NamedThing linear porokeratosis Linear porokeratosis is a rare skin condition characterized by streaks of reddish-brown patches surrounded by a ridge-like border.The patches usually develop in infants or young children, but they sometimes develop in adults. tmpaxzxjjyw_mondo_relaxed.owl Zosteriform porokeratosis|Porokeratosis, Linear|Linear Porokeratosis|Linear porokeratosis|Congenital facial linear porokeratosis (type) SCTID:238631008|UMLS:C0302319 owl:Class MONDO:0009403 biolink:NamedThing hypertelorism and tetralogy of fallot tmpaxzxjjyw_mondo_relaxed.owl hypertelorism and tetralogy of fallot MESH:C538386|GARD:0002848|UMLS:C1855903|OMIM:239711 https://rarediseases.info.nih.gov/diseases/2848/hypertelorism-and-tetralogy-of-fallot owl:Class HGNC:2844 biolink:NamedThing DGCR tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:186626 biolink:NamedThing Otophysi tmpaxzxjjyw_mondo_relaxed.owl Otophysa GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:32519 biolink:NamedThing Ostariophysi tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0100547 biolink:NamedThing Abnormality of forebrain morphology An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. tmpaxzxjjyw_mondo_relaxed.owl Abnormal shape of forebrain|Abnormality of the forebrain UMLS:C4020967 doelkens 2010-12-21T02:12:53Z human_phenotype owl:Class MONDO:0031007 biolink:NamedThing spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis tmpaxzxjjyw_mondo_relaxed.owl SHILCA|SHILCA Syndrome OMIM:619260 owl:Class MONDO:0007438 biolink:NamedThing dentin dysplasia-sclerotic bones syndrome Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977. tmpaxzxjjyw_mondo_relaxed.owl dentin dysplasia sclerotic bones|sclerotic bones with dentin dysplasia|dentin dysplasia with sclerotic bones MESH:C538213|GARD:0001808|UMLS:C1852201|Orphanet:99792|OMIM:125440|ICD10:K00.5 owl:Class MONDO:0017681 biolink:NamedThing erythrokeratoderma variabilis progressiva A type of erythrokeratoderma characterized by the association of hyperkeratosis and erythema in persistent, although sometimes variable, circumscribed lesions. Progressive symmetric erythrokeratoderma (PSEK) and erythrokeratoderma variabilis (EKV) are probably no longer two distinctive diseases but rather the two clinical manifestations of a same disease, now known as EKVP. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q82.8|Orphanet:308166 owl:Class MONDO:0008110 biolink:NamedThing ocular dominance tmpaxzxjjyw_mondo_relaxed.owl ocular dominance 2022-04-01 OMIM:164190 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0100011 biolink:NamedThing tendinosis The chronic degeneration of a tendon without inflammation. tmpaxzxjjyw_mondo_relaxed.owl 2018-07-17 15:58:43+00:00 SCTID:724152009 owl:Class GO:0044851 biolink:NamedThing hair cycle phase The cyclical periods of growth (anagen), regression (catagen), quiescence (telogen), and shedding (exogen) in the life of a hair; one of the collection or mass of filaments growing from the skin of an animal, and forming a covering for a part of the head or for any part or the whole of the body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021139 biolink:NamedThing congenital or acquired tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006559 biolink:NamedThing hidradenitis suppurativa A chronic suppurative and cicatricial disease of the apocrine glands occurring chiefly in the axillae in women and in the groin and anal regions in men. It is characterized by poral occlusion with secondary bacterial infection, evolving into abscesses which eventually rupture. As the disease becomes chronic, ulcers appear, sinus tracts enlarge, fistulas develop, and fibrosis and scarring become evident. tmpaxzxjjyw_mondo_relaxed.owl verneuil disease|hidradenitis suppurativa|acne inversa, familial|fox den disease|acne inversa|ectopic acne|pyoderma fistulans significa UMLS:C0162836|Orphanet:387|MESH:D017497|OMIM:142690|DOID:2280|Wikipedia:Hidradenitis_suppurativa|ICD10:L73.2|EFO:1000710|DOID:2282|GARD:0006658|SCTID:59393003|OMIM:613736|OMIM:613737 owl:Class MONDO:0015417 biolink:NamedThing Tessier number 6 facial cleft tmpaxzxjjyw_mondo_relaxed.owl Orphanet:141265|ICD10:Q18.8 owl:Class HGNC:385 biolink:NamedThing AKR1C2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009171 biolink:NamedThing endothelial dystrophy, congenital hereditary, with nail hypoplasia tmpaxzxjjyw_mondo_relaxed.owl endothelial dystrophy, congenital hereditary, with nail hypoplasia OMIM:226110|UMLS:C1856970|MESH:C565591 owl:Class MONDO:0011234 biolink:NamedThing auriculocondylar syndrome 1 Any auriculocondylar syndrome in which the cause of the disease is a mutation in the GNAI3 gene. tmpaxzxjjyw_mondo_relaxed.owl auriculocondylar syndrome caused by mutation in GNAI3|Auriculocondylar syndrome type 1|AURICULOCONDYLAR syndrome 1|GNAI3 auriculocondylar syndrome|question Mark ears syndrome|Auriculocondylar syndrome 1|ARCND1 OMIM:602483|Orphanet:137888|UMLS:C1865295 owl:Class MONDO:0016659 biolink:NamedThing 8p23.1 duplication syndrome 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). tmpaxzxjjyw_mondo_relaxed.owl trisomy 8p23.1|dup(8)(p23.1p23.1) UMLS:CN201889|SCTID:765140006|Orphanet:251076|ICD10:Q92.3|GARD:0010304 https://rarediseases.info.nih.gov/diseases/10304/8p231-duplication-syndrome owl:Class UBERON:0034953 biolink:NamedThing embryonic lymph sac tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012834 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 10 Any systemic lupus erythematosus in which the cause of the disease is a mutation in the IRF5 gene. tmpaxzxjjyw_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, type 10|systemic lupus erythematosus, susceptibility to, 10|susceptibility to systemic lupus erythematosus 10|systemic lupus erythematosus (disease) caused by mutation in IRF5|SLEB10|IRF5 systemic lupus erythematosus (disease) OMIM:612251 owl:Class GO:0008212 biolink:NamedThing mineralocorticoid metabolic process The chemical reactions and pathways involving mineralocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Mineralocorticoids act primarily on water and electrolyte balance. tmpaxzxjjyw_mondo_relaxed.owl mineralocorticoid metabolism owl:Class PATO:0000069 biolink:NamedThing deviation (from_normal) A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3765 biolink:NamedThing FLT3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003009 biolink:NamedThing hyperaldosteronism Overproduction of aldosterone by the adrenal glands, which may lead to hypokalemia and/or hypernatremia. tmpaxzxjjyw_mondo_relaxed.owl primary hyperaldosteronism ICD9:255.10|DOID:446|MESH:D006929|Orphanet:235936|OMIM:605635|ICD9:255.1|SCTID:88213004|NCIT:C113213|OMIM:613677|UMLS:C0020428|ICD10:E26.9|ICD10:E26 owl:Class MONDO:0024638 biolink:NamedThing pancreatic gastrinoma A neuroendocrine tumor arising from the pancreas. It is characterized by inappropriate secretion of gastrin and associated with Zollinger Ellison syndrome. The latter is characterized by the presence of peptic ulcer, gastroesophageal reflux disease, abdominal pain, diarrhea, and malabsorption. tmpaxzxjjyw_mondo_relaxed.owl pancreatic gastrinoma UMLS:C1368066|NCIT:C95596 owl:Class CL:0000529 biolink:NamedThing pigmented epithelial cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0011777 biolink:NamedThing Alzheimer disease 8 An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer disease type 8|Alzheimer disease, familial 8|Alzheimer disease 8|Alzheimer's disease type 8|Ad8|Alzheimer disease, familial, 8|AD8|Alzheimer's disease 8 MESH:C564622|DOID:0110041|OMIM:607116|ICD10:G30|UMLS:C1846735 owl:Class GO:0032609 biolink:NamedThing interferon-gamma production The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. tmpaxzxjjyw_mondo_relaxed.owl type II interferon production|IFNG production|type II IFN production|interferon-gamma biosynthetic process|interferon-gamma secretion owl:Class MONDO:0006647 biolink:NamedThing anterior cerebral artery infarction Necrosis occurring in the anterior cerebral artery system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the cerebral hemisphere, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000807|MESH:D020243|UMLS:C0751843|DOID:3528 owl:Class HGNC:13825 biolink:NamedThing ASPSCR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004500 biolink:NamedThing skeletal muscle tissue of deltoid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014418 biolink:NamedThing myopathy, centronuclear, 5 Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive centronuclear myopathy caused by mutation in SPEG|myopathy, centronuclear, type 5|myopathy, centronuclear, 5|CNM5|SPEG autosomal recessive centronuclear myopathy DOID:0111222|OMIM:615959|UMLS:C4014814|Orphanet:169186 owl:Class MONDO:0009795 biolink:NamedThing orofaciodigital syndrome IX Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment). tmpaxzxjjyw_mondo_relaxed.owl Ofds 9|OFD9|orofaciodigital syndrome IX|orofaciodigital syndrome 9|oral facial digital syndrome type 9|OFD syndrome 9|orofaciodigital syndrome type IX|oral-facial-digital syndrome type 9|oral-facial-digital syndrome with retinal abnormalities|orofaciodigital syndrome with retinal abnormalities|oral facial digital syndrome 9|oral-Facial-digital syndrome, type 9|orofaciodigital syndrome type 9|oral-Facial-digital syndrome with retinal abnormalities MESH:C557818|GARD:0010520|Orphanet:141007|DOID:0060382|OMIM:258865|SCTID:718680001|UMLS:C0796102|ICD10:Q87.0 https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9 owl:Class GO:0005584 biolink:NamedThing collagen type I trimer A collagen trimer containing alpha(I) chains. The most common form of type I collagen is a heterotrimer containing two alpha1(I) chains and one alpha2(I) chain; homotrimers containing three alpha1(I) chains are also found. Type I collagen triple helices associate to form banded fibrils. tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:02000105 biolink:NamedThing clay dust Dust which is derived from clay material. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:20371 biolink:NamedThing NDUFA11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006888 biolink:NamedThing paraneoplastic polyneuropathy A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure. tmpaxzxjjyw_mondo_relaxed.owl paraneoplastic polyneuropathy MedDRA:10062289|EFO:1001085|SCTID:77659000|ICD9:357.3|MESH:D020364|DOID:8681|UMLS:C0270932|NCIT:C3981 owl:Class MONDO:0009456 biolink:NamedThing Immunoerythromyeloid hypoplasia tmpaxzxjjyw_mondo_relaxed.owl Immunoerythromyeloid hypoplasia UMLS:C0272167|UMLS:CN074232|OMIM:242880 owl:Class MONDO:0009615 biolink:NamedThing methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic. tmpaxzxjjyw_mondo_relaxed.owl methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency|MCEE deficiency|methylmalonic aciduria III|methylmalonyl-CoA epimerase deficiency|methylmalonyl-Coa racemase deficiency|methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency|methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency|methylmalonic aciduria III, formerly|methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency|methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency SCTID:765137006|MESH:C565386|ICD10:E71.1|OMIM:251120|UMLS:C1855100|Orphanet:308425 owl:Class HGNC:9052 biolink:NamedThing PLAU tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013637 biolink:NamedThing primary biliary cholangitis 5 tmpaxzxjjyw_mondo_relaxed.owl biliary cirrhosis, primary, 5|PBC5 UMLS:C3280202|OMIM:614221|Orphanet:186 owl:Class MONDO:0018850 biolink:NamedThing proliferating trichilemmal cyst Proliferating trichilemmal tumor is a rare large, multinodular, usually benign, tumor that is generally located in the posterior part of the scalp in aged women (over 50 years). It first appears as a painless nodule that later grows into a solid or partially cystic tumor that is mobile over the underlying subcutaneous tissues. It can present ulceration, inflammation or even bleeding and can cause necrosis of the adjacent tissues. tmpaxzxjjyw_mondo_relaxed.owl proliferating Tricholemmal tumor|Pilar cyst|proliferating pilar cystic tumor|proliferating Pilar tumor|proliferating pilar cyst|Pilar tumor|proliferating trichilemmal tumor Orphanet:492|NCIT:C27125|GARD:0004509|ICDO:8103/0|ICD10:L72.1|UMLS:C2959585|ONCOTREE:PPCT|SCTID:254678009|UMLS:C0345992|ICDO:8103/1 https://rarediseases.info.nih.gov/diseases/4509/proliferating-trichilemmal-cyst owl:Class MONDO:0008058 biolink:NamedThing cylindrical spirals myopathy Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated. tmpaxzxjjyw_mondo_relaxed.owl myotonic myopathy with cylindrical spirals Orphanet:171886|DOID:0080103|ICD10:G71.2|OMIM:160990|UMLS:C1834418|SCTID:764525006|MESH:C563535|GARD:0011906 https://rarediseases.info.nih.gov/diseases/11906/cylindrical-spirals-myopathy owl:Class MONDO:0022559 biolink:NamedThing benign angiitis of the central nervous system A central nervous system vasculitis that has a benign course, with acute onset of neurologic symptoms, usually in the form of severe headache and/or a focal neurologic event. tmpaxzxjjyw_mondo_relaxed.owl BACNS GARD:0008704 https://rarediseases.info.nih.gov/diseases/8704/benign-angiitis-of-the-central-nervous-system owl:Class MONDO:0044781 biolink:NamedThing nephrotic syndrome of childhood - steroid sensitive Nephrotic syndrome, occurring in the pediatric population, characterized by the normalization of proteinuria with the administration of corticosteroids. tmpaxzxjjyw_mondo_relaxed.owl steroid-sensitive nephrotic syndrome|steroid-responsive nephrotic syndrome|nephrotic syndrome of childhood - steroid sensitive SCTID:236380004|NCIT:C122797|UMLS:C0403396 owl:Class MONDO:0009871 biolink:NamedThing pili torti-developmental delay-neurological abnormalities syndrome Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. tmpaxzxjjyw_mondo_relaxed.owl pili torti developmental delay neurological abnormalities|pili torti and developmental delay OMIM:261990|UMLS:C1849811|MESH:C537398|GARD:0004362|Orphanet:2891 owl:Class ECTO:9001757 biolink:NamedThing exposure to antibacterial drug An exposure to antibacterial drug. tmpaxzxjjyw_mondo_relaxed.owl exposure to antibacterial drug owl:Class ECTO:9001755 biolink:NamedThing exposure to antimicrobial drug An exposure to antimicrobial drug. tmpaxzxjjyw_mondo_relaxed.owl exposure to antimicrobial drug owl:Class CHEBI:38164 biolink:NamedThing organic heteropentacyclic compound tmpaxzxjjyw_mondo_relaxed.owl organic heteropentacyclic compounds owl:Class MONDO:0001089 biolink:NamedThing acute inferolateral myocardial infarction tmpaxzxjjyw_mondo_relaxed.owl acute inferolateral myocardial infarction|acute myocardial infarction of inferolateral wall ICD9:410.21|SCTID:65547006|DOID:10649|ICD9:410.20|UMLS:C0340308|ICD9:410.22 Editor note: TODO: positional superclass owl:Class MONDO:0042486 biolink:NamedThing polyposis syndrome, hereditary mixed, 1 tmpaxzxjjyw_mondo_relaxed.owl HMPS1|colorectal cancer, susceptibility to, 4|colorectal adenoma and carcinoma 1|polyposis syndrome, hereditary mixed, 1|colorectal cancer, susceptibility to, on chromosome 15|chromosome 15Q13-q14 Duplication syndrome, 40-Kb OMIM:601228|DOID:0111685|Orphanet:157794 owl:Class MONDO:0054862 biolink:NamedThing premature ovarian failure 15 tmpaxzxjjyw_mondo_relaxed.owl premature ovarian failure 15|POF15 OMIM:618096 owl:Class NCBITaxon:262 biolink:NamedThing Francisella tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:8123561|PMID:19783615 ncbi_taxonomy owl:Class CL:0000456 biolink:NamedThing mineralocorticoid secreting cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0003656 biolink:NamedThing hemoglobinuria A laboratory test result which indicates free hemoglobin in the urine. tmpaxzxjjyw_mondo_relaxed.owl ICD9:791.2|MESH:D006456|NCIT:C34677|ICD10:R82.3|UMLS:C0019048|DOID:582 May be obsoleted as it represents a finding owl:Class MONDO:0010784 biolink:NamedThing chloramphenicol toxicity tmpaxzxjjyw_mondo_relaxed.owl chloramphenicol resistance|anemia, chloramphenicol-induced|chloramphenicol toxicity OMIM:515000 owl:Class MONDO:0040753 biolink:NamedThing latent tuberculosis infection Mycobacterium tuberculosis infection that does not induce infectious expression of the disease in the affected person, although it can cause continuous immune response generated towards TB antigens; person having LTBI are asymptomatic and acting as a reservoir of active tuberculosis tuberculosis cases and Mycobacterium tuberculosis and run a 5-10% risk of reactivating tuberculosis throughout their lives. tmpaxzxjjyw_mondo_relaxed.owl inactive tuberculosis|inactive TB|tuberculosis infection latent|LTBI MESH:D055985|SCTID:11999007|UMLS:C1609538 owl:Class HGNC:17748 biolink:NamedThing DACT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017564 biolink:NamedThing macrodactyly of fingers, unilateral tmpaxzxjjyw_mondo_relaxed.owl macrodactyly of hand, unilateral Orphanet:295239|ICD10:Q74.0 owl:Class MONDO:0009645 biolink:NamedThing chronic mucocutaneous candidiasis due to monocyte chemotactic disorder tmpaxzxjjyw_mondo_relaxed.owl monocyte chemotactic disorder OMIM:252250|UMLS:C1854982|MESH:C565371 owl:Class MONDO:0003672 biolink:NamedThing posterior myocardial infarction tmpaxzxjjyw_mondo_relaxed.owl true posterior wall infarction|true posterior myocardial infarction DOID:5847|UMLS:C0264706|SCTID:194802003 owl:Class HGNC:10959 biolink:NamedThing SLCO1B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014476 biolink:NamedThing episodic ataxia type 8 tmpaxzxjjyw_mondo_relaxed.owl episodic ataxia, type 8|episodic ataxia with slurred speech|episodic ataxia type 8|EA8 Orphanet:401953|UMLS:C4015108|OMIM:616055|DOID:0050996|ICD10:G11.8 owl:Class MONDO:0013843 biolink:NamedThing intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene. tmpaxzxjjyw_mondo_relaxed.owl meconium ileus due to guanylate cyclase 2C deficiency|GUCY2C meconium ileus|meconium ileus|meconium ileus caused by mutation in GUCY2C SCTID:733447005|ICD9:777.1|ICD10:P76.0|Orphanet:314376|OMIM:614665 owl:Class ECTO:8000035 biolink:NamedThing exposure to anthropogenic modulatory intervention process A exposure event involving the interaction of an exposure receptor to anthropogenic modulatory intervention process. tmpaxzxjjyw_mondo_relaxed.owl anthropogenic modulatory intervention process exposure owl:Class MONDO:0023601 biolink:NamedThing non-classic congenital adrenal hyperplasia A milder form of congenital adrenal hyperplasia characterized by decreased activity of an enzyme in the steroidogenic pathway, typically presenting later in life, that does not require life-long cortisol replacement. tmpaxzxjjyw_mondo_relaxed.owl attenuated congenital adrenal hyperplasia|NCCAH|late-onset congenital adrenal hyperplasia|LOCAH|non-classic congenital adrenal hyperplasia|non classic congenital adrenal hyperplasia NCIT:C131442|UMLS:C0342467|MESH:C537877 owl:Class MONDO:0018221 biolink:NamedThing immune hydrops fetalis Immune hydrops fetalis (IHF), a form of HF, describes the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities due to maternal rhesus (Rh) incompatibility. tmpaxzxjjyw_mondo_relaxed.owl immune fetal hydrops|IHF|immune HF|immune fetal edema UMLS:C0455990|SCTID:15539009|ICD9:773.3|ICD10:P56.0|NCIT:C111904|Orphanet:364013 owl:Class MONDO:0015193 biolink:NamedThing hydrops fetalis Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility). tmpaxzxjjyw_mondo_relaxed.owl idiopathic hydrops fetalis|familial non-immune hydrops fetalis|hydrops fetalis|HF|fetal anasarca|hydrops fetalis (disease)|fetal hydrops|fetal edema|generalized fetal edema|hydrops fetalis nonimmune hydrops fetalis (disease) HP:0001789|Orphanet:1041|ICD10:P83.2|GARD:0002783|MedDRA:10020529|ICD10:P56.9|GARD:0002301|OMIM:236750|NCIT:C84767|SCTID:276508000|UMLS:C0020305|ICD10:P56.0 owl:Class MONDO:0006312 biolink:NamedThing myofibroma A benign, localized, nodular and well-circumscribed neoplasm usually seen as a congenital neoplasm or in the first year of life. It is characterized by a biphasic growth pattern and is composed of small, undifferentiated mesenchymal cells associated with branching thin-walled vessels and more mature neoplastic spindle cells with abundant eosinophilic cytoplasm in a collagenous stroma. tmpaxzxjjyw_mondo_relaxed.owl infantile hemangiopericytoma|myofibroma|myofibroma (morphologic abnormality)|lipoleiomyoma DOID:4386|EFO:1000389|ICDO:8824/0|ONCOTREE:MF|MESH:D047708|UMLS:C1266121|NCIT:C7052 owl:Class HGNC:20582 biolink:NamedThing CYP2U1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002149 biolink:NamedThing Hyperuricemia An abnormally high level of uric acid in the blood. tmpaxzxjjyw_mondo_relaxed.owl Hyperuricaemia|High blood uric acid level MSH:D033461|UMLS:C0740394|SNOMEDCT_US:35885006 human_phenotype owl:Class UBERON:0001252 biolink:NamedThing adventitia of ureter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011796 biolink:NamedThing epilepsy, partial, with pericentral spikes tmpaxzxjjyw_mondo_relaxed.owl PEPS|Epps|epilepsy, partial, with pericentral spikes MESH:C564605|UMLS:C1846609|OMIM:607221 owl:Class MONDO:0009179 biolink:NamedThing recessive dystrophic epidermolysis bullosa Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement. tmpaxzxjjyw_mondo_relaxed.owl severe generalized recessive dystrophic epidermolysis bullosa|epidermolysis bullosa dystrophica inversa, autosomal recessive|severe generalized RDEB|dystrophic epidermolysis bullosa, autosomal recessive|recessive dystrophic epidermolysis bullosa, severe generalized|epidermolysis bullosa dystrophica, autosomal recessive|epidermolysis bullosa dystrophica, autosomal recessive, Localisata variant|RDEB, severe generalized|epidermolysis bullosa dystrophica, generalized severe, autosomal recessive|RDEB generalisata gravis|epidermolysis bullosa dystrophica, Hallopeau-Siemens type|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (formerly)|autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type|autosomal recessive dystrophic epidermolysis bullosa generalisata gravis|RDEB-sev gen|RDEB|RDEB, Hallopeau-Siemens type GARD:0006308|Orphanet:79408|Orphanet:79409|SCTID:48528004|DOID:0060642|ICD9:757.39|ICD10:Q81.2|OMIM:226600 owl:Class MONDO:0009509 biolink:NamedThing Landau-Kleffner syndrome Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females. In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely. Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS. tmpaxzxjjyw_mondo_relaxed.owl epilepsy, focal, with speech disorder and with or without intellectual disability|Landau-Kleffner syndrome|aphasia, acquired, with epilepsy|continuous Spike and waves during slow-Wave sleep syndrome|Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant|epilepsy, focal, with speech disorder and with or without mental retardation|benign epilepsy of childhood with centrotemporal spikes|acquired epileptic aphasia|FESD|Rolandic epilepsy, intellectual disability, and speech dyspraxia, autosomal dominant|acquired epileptiform aphasia|LKS|acquired aphasia with convulsive disorder MedDRA:10052083|DOID:2538|Orphanet:1945|Orphanet:725|NCIT:C84806|Orphanet:163721|UMLS:C3806403|GARD:0006855|SCTID:230438007|Orphanet:98818|EFO:1001010|OMIM:245570|UMLS:C0282512|ICD10:G40.8|MedDRA:10052075|MESH:D018887 https://rarediseases.info.nih.gov/diseases/6855/landau-kleffner-syndrome owl:Class UBERON:0002180 biolink:NamedThing ventral funiculus of spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0045182 biolink:NamedThing translation regulator activity Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome. tmpaxzxjjyw_mondo_relaxed.owl translation factor activity owl:Class MONDO:0001260 biolink:NamedThing cercarial dermatitis An unusual presentation of schistosomiasis characterized by a pruritic papular rash in the perigenital or periumbilical area due to an allergic reaction to schistosoma eggs deposited in the skin. tmpaxzxjjyw_mondo_relaxed.owl lake Itch|cutaneous schistosomiasis|duck Itch|Sea bather's eruption|swimmer's itch ICD10:B65.3|NCIT:C128349|ICD9:120.3|UMLS:C0546996|UMLS:C4282208|SCTID:238534006|GARD:0009747|ICD9:709.8|DOID:11302 https://rarediseases.info.nih.gov/diseases/9747/cercarial-dermatitis owl:Class NCBITaxon:186537 biolink:NamedThing Marburgvirus tmpaxzxjjyw_mondo_relaxed.owl Marburg-like viruses GC_ID:1 ncbi_taxonomy owl:Class UBERON:0003283 biolink:NamedThing mesentery of oesophagus tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:689831 biolink:NamedThing Spinareovirinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020709 biolink:NamedThing Majocchi granuloma An inflammatory and granulomatous, dermatophytic infection that is classified into two forms, depending on the affected individual’s health situation and clinical picture. The first form is mainly observed in healthy individuals and is defined as a perifollicular, papular form induced by penetrating trauma that is mostly observed in the lower extremities. The second form is granulomatous, related to immunosuppression, seen in a nodular form, and usually appears on the upper extremities. tmpaxzxjjyw_mondo_relaxed.owl Majocchi's granuloma owl:Class MONDO:0006886 biolink:NamedThing thyroid gland papillary and follicular carcinoma A thyroid neoplasm of mixed papillary and follicular arrangement. Its biological behavior and prognosis is the same as that of a papillary adenocarcinoma of the thyroid. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1271) tmpaxzxjjyw_mondo_relaxed.owl thyroid gland papillary and follicular carcinoma|papillary and follicular adenocarcinoma|papillary and follicular carcinoma|papillary follicular thyroid adenocarcinoma DOID:3968|MESH:D018265|UMLS:C0206683|NCIT:C7380|EFO:1001083 owl:Class MONDO:0015941 biolink:NamedThing epiphyseal dysplasia-hearing loss-dysmorphism syndrome Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992. tmpaxzxjjyw_mondo_relaxed.owl Finucane Kurtz Scott syndrome|Finucane-Kurtz-Scott syndrome|epiphyseal dysplasia hearing loss dysmorphism Orphanet:1825|GARD:0002178|SCTID:766870005|ICD10:Q87.0|UMLS:CN200532 https://rarediseases.info.nih.gov/diseases/2178/epiphyseal-dysplasia-hearing-loss-dysmorphism owl:Class MONDO:0001746 biolink:NamedThing optic disk drusen Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated intracranial hypertension) and visual field deficits. Drusen may also occur in the retina (see retinal drusen). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355) tmpaxzxjjyw_mondo_relaxed.owl optic nerve head drusen|drusen of optic disc SCTID:33629003|ICD10:H47.32|MESH:D015594|DOID:13561|UMLS:C0029128|ICD9:377.21 owl:Class MONDO:0020974 biolink:NamedThing laryngeal granuloma A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX. tmpaxzxjjyw_mondo_relaxed.owl Granulomas, Laryngeal|laryngeal granuloma|Laryngeal Granulomas|Granuloma, Laryngeal|Laryngeal granuloma|Laryngeal Granuloma|Granuloma of Larynx|Larynx Granulomas|Larynx Granuloma UMLS:C0018196|MESH:D006102|ICD9:478.79|SCTID:72211003 owl:Class MONDO:0001830 biolink:NamedThing somatization disorder Disorders having the presence of physical symptoms that suggest a general medical condition but that are not fully explained by a another medical condition, by the direct effects of a substance, or by another mental disorder. The symptoms must cause clinically significant distress or impairment in social, occupational, or other areas of functioning. In contrast to factitious disorders and malingering, the physical symptoms are not under voluntary control. (apa, dsm-V) tmpaxzxjjyw_mondo_relaxed.owl Briquet's disorder|Polysomatising disorder|Somatisation disorder ICD9:300.81|SCTID:397923000|MESH:D013001|DOID:13918|ICD10:F45.0 owl:Class MONDO:0000770 biolink:NamedThing shellfish allergy Allergic reaction to shellfish or shellfish products. tmpaxzxjjyw_mondo_relaxed.owl MESH:D000067208|SCTID:300913006|UMLS:C0577625|DOID:0060495 owl:Class CL:0002191 biolink:NamedThing granulocytopoietic cell A cell involved in the formation of a granulocyte. tmpaxzxjjyw_mondo_relaxed.owl FMA:83519 tmeehan 2010-08-30T12:54:27Z cell owl:Class MONDO:0033572 biolink:NamedThing intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES|IDDEBF OMIM:619031 owl:Class MONDO:0002253 biolink:NamedThing spondylosis A degenerative spinal disease that can involve any part of the vertebra, the intervertebral disk, and the surrounding soft tissue. tmpaxzxjjyw_mondo_relaxed.owl spondylogenic compression of lumbar spinal cord|lumbosacral spondylosis without myelopathy|thoracic or lumbar spondylosis with myelopathy|lumbar spondylosis with myelopathy|spondylosis with myelopathy|spondylogenic compression of thoracic spinal cord ICD10:M47.9|ICD9:721.3|SCTID:48210000|ICD10:M47|UMLS:C0038019|DOID:2247|ICD9:721.9|MESH:D055009 owl:Class MONDO:0003509 biolink:NamedThing pineal region choriocarcinoma A choriocarcinoma (disease) that involves the pineal body. tmpaxzxjjyw_mondo_relaxed.owl choriocarcinoma of pineal area|pineal area choriocarcinoma|pineal choriocarcinoma|choriocarcinoma of the pineal region|choriocarcinoma of pineal region|choriocarcinoma of the pineal area UMLS:C1335414|NCIT:C6759|DOID:5553 owl:Class MONDO:0008064 biolink:NamedThing nasal bones, absence of tmpaxzxjjyw_mondo_relaxed.owl nasal bones, absence of UMLS:C4082198|OMIM:161480|MESH:C562753 owl:Class MONDO:0032693 biolink:NamedThing Galloway-Mowat syndrome 8 tmpaxzxjjyw_mondo_relaxed.owl GAMOS8|GALLOWAY-MOWAT SYNDROME 8 OMIM:618349 owl:Class GO:0004176 biolink:NamedThing ATP-dependent peptidase activity Catalysis of the hydrolysis of peptide bonds, driven by ATP hydrolysis. tmpaxzxjjyw_mondo_relaxed.owl ATP-dependent proteolysis owl:Class MONDO:0022733 biolink:NamedThing choreoacanthocytosis amyotrophic tmpaxzxjjyw_mondo_relaxed.owl GARD:0001306 https://rarediseases.info.nih.gov/diseases/1306/choreoacanthocytosis-amyotrophic owl:Class IAO:8000011 biolink:NamedThing external import ontology module An imported ontology module that is derived from an external ontology. Derivation methods include the OWLAPI SLME approach. tmpaxzxjjyw_mondo_relaxed.owl external import external import ontology module owl:Class IAO:8000005 biolink:NamedThing import ontology module A subset ontology module that is intended to be imported from another ontology. tmpaxzxjjyw_mondo_relaxed.owl import file TODO: add axioms that indicate this is the output of a module extraction process. import ontology module owl:Class NCBITaxon:35790 biolink:NamedThing Rickettsia japonica tmpaxzxjjyw_mondo_relaxed.owl PMID:2516664|PMID:1581190|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0017981 biolink:NamedThing syngnathia-cleft palate syndrome tmpaxzxjjyw_mondo_relaxed.owl syngnathia cleft palate Orphanet:3263|GARD:0005091|UMLS:CN204137 owl:Class MONDO:0010685 biolink:NamedThing myopia 1, X-linked tmpaxzxjjyw_mondo_relaxed.owl MYP1|myopia 1, X-linked MESH:C564091|UMLS:C1839612|OMIM:310460 owl:Class SO:1000030 biolink:NamedThing chromosomal_inversion An interchromosomal mutation where a region of the chromosome is inverted with respect to wild type. tmpaxzxjjyw_mondo_relaxed.owl (Drosophila)In|(bacteria)IN|chromosomal inversion|(fungi)In owl:Class MONDO:0011489 biolink:NamedThing hereditary spastic paraplegia 12 Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive lower limb spasticity and hyperreflexia of lower extremities, extensor plantar reflexes, distal sensory impairment, variable urinary dysfunction and pes cavus. tmpaxzxjjyw_mondo_relaxed.owl RTN2 hereditary spastic paraplegia|spastic paraplegia 12|hereditary spastic paraplegia caused by mutation in RTN2|SPG12|spastic paraplegia 12, autosomal dominant|hereditary spastic paraplegia type 12|autosomal dominant spastic paraplegia 12|autosomal dominant spastic paraplegia type 12 SCTID:763374004|GARD:0009586|MESH:C537484|DOID:0110765|Orphanet:100993|UMLS:C1858106|OMIM:604805|ICD10:G11.4 owl:Class MONDO:0019557 biolink:NamedThing chilblain lupus A rare, chronic cutaneous lupus erythematosus disease characterized by red or violaceous, initially pruritic (evolving to painful) papules and plaques located on acral areas (especially dorsal aspects of fingers and toes, while the nose and ear involvement is uncommon), exacerbated by cold and damp conditions, with fissuring and ulceration occasionally observed. Coexistence of discoid lupus erythematosus lesions elsewhere on the body and occasional progression to systemic lupus erythematosus may be associated. Histological examination and direct immunofluorescence studies reveal nonspecific inflammatory lupus erythematosus changes while results of cryoglobulin and cold agglutinin studies are negative. tmpaxzxjjyw_mondo_relaxed.owl CHLE|Hutchinson lupus OMIM:610448|ICD10:L93.2|Orphanet:90280|MedDRA:10025141|OMIM:614415|UMLS:C0024145|UMLS:CN239336|DOID:0060386 Editor note: ORDO classifies as genetic and has a separate subclass for familiar form owl:Class MONDO:0008255 biolink:NamedThing platelet factor 3 deficiency tmpaxzxjjyw_mondo_relaxed.owl platelet factor 3 deficiency MESH:C566798|UMLS:C1868256|OMIM:173450 owl:Class MONDO:0012618 biolink:NamedThing intellectual disability, autosomal recessive 10 tmpaxzxjjyw_mondo_relaxed.owl MRT10|intellectual disability, autosomal recessive 10|mental retardation, autosomal recessive 10|intellectual disability, autosomal recessive 20|mental retardation, autosomal recessive 20 Orphanet:88616|OMIM:611096|UMLS:C1970194|MESH:C567013 owl:Class HGNC:8918 biolink:NamedThing PHEX tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007963 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl melanoma, cutaneous malignant|B-K Mole syndrome|melanoma, malignant|CMM1|melanoma, cutaneous malignant, susceptibility to, 1|melanoma, familial|dysplastic Nevus syndrome, hereditary|familial atypical Mole-malignant melanoma syndrome SCTID:254819008|Orphanet:404560|Orphanet:618|OMIM:155600 owl:Class HP:0000992 biolink:NamedThing Cutaneous photosensitivity An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. tmpaxzxjjyw_mondo_relaxed.owl Sensitivity to sunlight|Photosensitivity|Photosensitive skin rashes|Skin photosensitivity|Photosensitive skin|Sun sensitivity MSH:D010787|UMLS:C0349506|SNOMEDCT_US:90128006 HP:0006831|HP:0005594|HP:0007538 human_phenotype owl:Class HGNC:17158 biolink:NamedThing PLD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:50902 biolink:NamedThing genotoxin A role played by a chemical compound to induce direct or indirect DNA damage. Such damage can potentially lead to the formation of a malignant tumour, but DNA damage does not lead inevitably to the creation of cancerous cells. tmpaxzxjjyw_mondo_relaxed.owl genotoxic agents|genotoxins|genotoxic agent owl:Class MONDO:0011160 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 15 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GIPC3 gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 95|deafness, autosomal recessive type 15|autosomal recessive nonsyndromic deafness caused by mutation in GIPC3|autosomal recessive deafness 72|DFNB72|autosomal recessive nonsyndromic deafness type 15|deafness, autosomal recessive 15|autosomal recessive deafness 15|GIPC3 autosomal recessive nonsyndromic deafness|DFNB15|autosomal recessive nonsyndromic deafness 15|deafness, autosomal recessive 72|DFNB95|autosomal recessive deafness 95 DOID:0110470|UMLS:C1866094|OMIM:601869|ICD10:H90.3|MESH:C566611 owl:Class Ncb420ab1a83e422f9348f92c187da300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009706 biolink:NamedThing hereditary myopathy with lactic acidosis due to ISCU deficiency Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase. tmpaxzxjjyw_mondo_relaxed.owl myoglobinuria due to abnormal glycolysis|iron-sulfur cluster deficiency myopathy|myopathy with exercise intolerance, Swedish type|myopathy with deficiency of succinate dehydrogenase and aconitase|aconitase deficiency|myopathy with lactic acidosis, hereditary|HML|ISCU myopathy MESH:C564972|SCTID:699268002|ICD9:259.8|OMIM:255125|ICD10:G71.3|UMLS:C1850718|Orphanet:43115 owl:Class HGNC:29882 biolink:NamedThing ISCU tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2536 biolink:NamedThing CTSK tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007159 biolink:NamedThing lumen of colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006522 biolink:NamedThing acquired keratosis Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications. tmpaxzxjjyw_mondo_relaxed.owl acquired hyperkeratosis|keratoderma - acquired|keratoderma, acquired|acquired keratoderma|acquired keratosis EFO:1000663|SCTID:400166009|DOID:13072|NCIT:C34746|ICD9:701.1 owl:Class UBERON:0035039 biolink:NamedThing rectal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013827 biolink:NamedThing hyperekplexia 3 Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene. tmpaxzxjjyw_mondo_relaxed.owl HKPX3|hyperekplexia type 3|hereditary hyperekplexia caused by mutation in SLC6A5|SLC6A5 hereditary hyperekplexia|hyperekplexia 3 OMIM:614618|Orphanet:3197|ICD10:G25.8|UMLS:C3553288|DOID:0060698 owl:Class HGNC:11051 biolink:NamedThing SLC6A5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016146 biolink:NamedThing caveolinopathy A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals tmpaxzxjjyw_mondo_relaxed.owl qualitative or quantitative defects of caveolin-3 UMLS:CN043575|Orphanet:207078 owl:Class GO:0005901 biolink:NamedThing caveola A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl caveolar membrane|caveolae owl:Class CHEBI:33708 biolink:NamedThing amino-acid residue When two or more amino acids combine to form a peptide, the elements of water are removed, and what remains of each amino acid is called an amino-acid residue. tmpaxzxjjyw_mondo_relaxed.owl amino-acid residues|amino acid residue|amino-acid residue owl:Class MONDO:0009472 biolink:NamedThing acetylation, slow tmpaxzxjjyw_mondo_relaxed.owl Isoniazid inactivation, slow|slow acetylator phenotype|Fast acetylator phenotype|acetylation, Fast|INH inactivation, Fast|acetylation, slow|INH inactivation, slow OMIM:243400 owl:Class HGNC:7646 biolink:NamedThing NAT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006031 biolink:NamedThing chronic rhinosinusitis Chronic form of sinusitis. tmpaxzxjjyw_mondo_relaxed.owl chronic sinusitis|sinusitis, chronic ICD9:473.8|SCTID:40055000|EFO:1000024|NCIT:C35151|UMLS:C0149516|ICD9:473.9|PMID:25838086 owl:Class FOODON:00003374 biolink:NamedThing harvested food material Organic food material that has been harvested. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005748 biolink:NamedThing enzootic pneumonia of calves Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with pasteurella multocida producing a purulent bronchopneumonia. Sometimes present are mannheimia haemolytica; haemophilus somnus and mycoplasma species. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276046|EFO:0007256|MESH:D048089 owl:Class MONDO:0015282 biolink:NamedThing cardiomyopathy-cataract-hip spine disease syndrome Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985. tmpaxzxjjyw_mondo_relaxed.owl Krasnow Qazi syndrome|Krasnow Qazi Yermakov syndrome|familial dilated cardiomyopathy associated with cataracts and hip-spine disease|cardiomyopathy cataract hip spine disease|Krasnow-Qazi syndrome Orphanet:1345|UMLS:C2931548|SCTID:720609003|MESH:C537616|GARD:0001102 https://rarediseases.info.nih.gov/diseases/1102/cardiomyopathy-cataract-hip-spine-disease|https://github.com/monarch-initiative/mondo/issues/324 owl:Class HGNC:9896 biolink:NamedThing RBM10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005902 biolink:NamedThing occipital region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016850 biolink:NamedThing atypical Norrie disease due to monosomy Xp11.3 Atypical Norrie disease due to monosomy Xp11.3 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome X, principally characterized by classical Norrie disease (bilateral, severe retinal malformations and opacity of the lens leading to congenital blindness, on occasion associated with progressive sensorineural deafness and intellectual disability), microcephaly, hypotonia, psychomotor and growth delay, moderate to severe mental handicap and disruptive behaviour. Clinical phenotype is highly variable and immunodeficiency, epilepsy and hypogonadism have also been reported. tmpaxzxjjyw_mondo_relaxed.owl atypical Norrie disease due to Xp11.3 microdeletion|atypical Norrie disease due to del(X)(p11.3) UMLS:C4518083|Orphanet:261501|UMLS:CN202196|SCTID:733626002|ICD10:H35.5 owl:Class OBO:CHR_9606-chrXp11.3 biolink:NamedThing Xp11.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 47600000 42500000 hg38 owl:Class OBO:CHR_9606-chr6q11-q14 biolink:NamedThing 6q11-q14 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0014938 biolink:NamedThing aniridia 3 Any isolated aniridia in which the cause of the disease is a mutation in the TRIM44 gene. tmpaxzxjjyw_mondo_relaxed.owl aniridia type 3|isolated aniridia caused by mutation in TRIM44|aniridia 3; AN3|aniridia 3|TRIM44 isolated aniridia|AN3 OMIM:617142 owl:Class HGNC:10922 biolink:NamedThing SLC16A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009338 biolink:NamedThing hepatic veno-occlusive disease-immunodeficiency syndrome Hepatic veno-occlusive disease-immunodeficiency syndrome is characterized by the association of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease. tmpaxzxjjyw_mondo_relaxed.owl familial veno-occlusive disease with immunodeficiency|VODI|hepatic veno-occlusive disease with immunodeficiency|veno-occlusive disease and immunodeficiency syndrome|VODI syndrome|hepatic venoocclusive disease with immunodeficiency OMIM:235550|UMLS:C1856128|GARD:0010083|ICD10:K76.5|SCTID:724361001|MESH:C537257|Orphanet:79124 https://rarediseases.info.nih.gov/diseases/10083/hepatic-venoocclusive-disease-with-immunodeficiency owl:Class MONDO:0011446 biolink:NamedThing myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders tmpaxzxjjyw_mondo_relaxed.owl myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders UMLS:C1858478|OMIM:604363|MESH:C565786 owl:Class MONDO:0013278 biolink:NamedThing lymphatic malformation 3 Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene. tmpaxzxjjyw_mondo_relaxed.owl lymphedema, hereditary, 1C|hereditary lymphedema caused by mutation in GJC2|lymphedema, hereditary, type 1C|lymphedema, hereditary, IC|GJC2 hereditary lymphedema|LMPH1C Orphanet:79452|OMIM:613480|DOID:0070208|UMLS:C3150732 owl:Class HGNC:6554 biolink:NamedThing LEPR tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0008669 biolink:NamedThing Abnormal spermatogenesis Incomplete maturation or aberrant formation of the male gametes. tmpaxzxjjyw_mondo_relaxed.owl Abnormal sperm development|Impaired spermatogenesis SNOMEDCT_US:4529005|UMLS:C0520933|UMLS:C4020789 human_phenotype owl:Class HGNC:12630 biolink:NamedThing USP7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:24261 biolink:NamedThing glucocorticoid Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. tmpaxzxjjyw_mondo_relaxed.owl glucocorticoids owl:Class MONDO:0011340 biolink:NamedThing congenital tracheal stenosis tmpaxzxjjyw_mondo_relaxed.owl tracheobronchial stenosis, congenital SCTID:9660004|ICD9:748.3|MESH:C566362|Orphanet:141127|OMIM:603569|ICD10:Q32.1|GARD:0012008 https://rarediseases.info.nih.gov/diseases/12008/congenital-tracheal-stenosis owl:Class MONDO:0008519 biolink:NamedThing multiple synostoses syndrome 1 Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene. tmpaxzxjjyw_mondo_relaxed.owl symphalangism-brachydactyly syndrome|synostoses, multiple, with brachydactyly|Wl syndrome|symphalangism brachydactyly syndrome|NOG multiple synostoses syndrome|multiple synostoses syndrome 1|deafness-symphalangism syndrome of Herrmann|synostoses multiple with brachydactyly|multiple synostoses syndrome caused by mutation in nog|facioaudiosymphalangism syndrome|nog multiple synostoses syndrome|multiple synostoses syndrome type 1|SYNS1|multiple synostoses syndrome caused by mutation in NOG OMIM:186500|UMLS:C0342282|GARD:0003836|Orphanet:3237 owl:Class MONDO:0018668 biolink:NamedThing scedosporiosis tmpaxzxjjyw_mondo_relaxed.owl ICD10:B48.7|Orphanet:449280 owl:Class HP:0002883 biolink:NamedThing Hyperventilation Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. tmpaxzxjjyw_mondo_relaxed.owl Rapid breathing UMLS:C0020578|SNOMEDCT_US:68978004|MSH:D006985 human_phenotype owl:Class MONDO:0023415 biolink:NamedThing congenital candidiasis A fungal infection by any of the Candida species that is present at birth. tmpaxzxjjyw_mondo_relaxed.owl Congenital Candidiasis|Congenital candidiasis|congenital candidiasis|Congenital candidosis MEDGEN:575892|NCIT:C116811|SCTID:276672007|UMLS:C0343875 owl:Class MONDO:0012767 biolink:NamedThing age related macular degeneration 11 Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene. tmpaxzxjjyw_mondo_relaxed.owl age related macular degeneration type 11|ARMD11|macular degeneration, age-related, 11|macular Degeneration, age-related, type 11|CST3 age-related macular degeneration|age-related macular degeneration caused by mutation in CST3 MESH:C567450|DOID:0110023|OMIM:611953|UMLS:C2677774 owl:Class MONDO:0013344 biolink:NamedThing migraine, with or without aura, susceptibility to, 13 Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene. tmpaxzxjjyw_mondo_relaxed.owl KCNK18 migraine disorder|MGR13|migraine disorder caused by mutation in KCNK18|migraine with or without aura, susceptibility to, 13|migraine, with or without aura, susceptibility to, type 13|susceptibility to migraine with or without aura 13|migraine, with or without aura, susceptibility to, 13 OMIM:613656 owl:Class MONDO:0013023 biolink:NamedThing orofacial cleft 12 tmpaxzxjjyw_mondo_relaxed.owl OFC12|orofacial cleft 12|cleft lip with or without cleft palate, nonsyndromic, 12 UMLS:C2748505|Orphanet:1991|DOID:0080405|OMIM:612858|MESH:C567548 owl:Class HGNC:6742 biolink:NamedThing LZTR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003345 biolink:NamedThing hilar cholangiocarcinoma A cholangiocarcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts. tmpaxzxjjyw_mondo_relaxed.owl hilar cholangiocellular carcinoma|perihilar cholangiocarcinoma|hilar CC|Klatskin's tumor|Klatskin tumor|cholangiocarcinoma of hilar portion of hepatic duct|perihilar extrahepatic bile duct carcinoma|hilar portion of hepatic duct cholangiocarcinoma|hilar CCA|hilar cholangiocarcinoma SCTID:253017000|ICD10:C24.0|UMLS:C0206702|DOID:5246|GARD:0010175|Orphanet:99978|MESH:D018285|NCIT:C36077|DOID:4927|EFO:1001005 https://rarediseases.info.nih.gov/diseases/10175/klatskin-tumor owl:Class MONDO:0014244 biolink:NamedThing hereditary sensory and autonomic neuropathy type 7 Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.' tmpaxzxjjyw_mondo_relaxed.owl neuropathy, hereditary sensory and autonomic, type 7|congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction|HSAN with hyperhidrosis and gastrointestinal dysfunction|HSAN7|neuropathy, hereditary sensory and autonomic, type VII|hereditary sensory and autonomic neuropathy type VII|SCN11A autosomal dominant hereditary sensory and autonomic neuropathy|hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|HSAN 7|HSAN VII|insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis|CIP with hyperhidrosis and gastrointestinal dysfunction|autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A Orphanet:391397|DOID:0070149|NCIT:C125388|GARD:0012732|OMIM:615548|UMLS:C3809882|ICD10:G60.8|GARD:12723 https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7 owl:Class MONDO:0014095 biolink:NamedThing dilated cardiomyopathy 1JJ Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the LAMA4 gene. tmpaxzxjjyw_mondo_relaxed.owl dilated cardiomyopathy type 1JJ|LAMA4 familial isolated dilated cardiomyopathy|CMD1JJ|familial isolated dilated cardiomyopathy caused by mutation in LAMA4|cardiomyopathy, dilated, 1JJ|cardiomyopathy, dilated, type 1Jj ICD10:I42.0|DOID:0110438|OMIM:615235|UMLS:C3808935 owl:Class MONDO:0008930 biolink:NamedThing celiac disease, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl CELIAC1|susceptibility to celiac disease 1|celiac sprue, susceptibility to, 1|celiac disease, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1|celiac disease, susceptibility to, type 1 OMIM:212750|UMLS:C0007570 owl:Class MONDO:0033622 biolink:NamedThing spermatogenic failure 44 tmpaxzxjjyw_mondo_relaxed.owl SPGF44 OMIM:619044 owl:Class HGNC:28514 biolink:NamedThing CEP112 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001090 biolink:NamedThing acute anterolateral myocardial infarction Acute form of anterolateral myocardial infarction. tmpaxzxjjyw_mondo_relaxed.owl acute myocardial infarction of anterolateral wall|acute anterolateral myocardial infarction|anterolateral myocardial infarction, acute ICD9:410.01|ICD9:410.02|SCTID:70211005|ICD9:410.0|ICD9:410.00|DOID:10651|UMLS:C0155627 Editor note: TODO: positional superclass owl:Class GO:0048844 biolink:NamedThing artery morphogenesis The process in which the anatomical structures of arterial blood vessels are generated and organized. Arteries are blood vessels that transport blood from the heart to the body and its organs. tmpaxzxjjyw_mondo_relaxed.owl arteriogenesis|arterial morphogenesis owl:Class MONDO:0013927 biolink:NamedThing peroxisome biogenesis disorder 3A (Zellweger) tmpaxzxjjyw_mondo_relaxed.owl PBD3A|peroxisome biogenesis disorder 3A (Zellweger)|peroxisome biogenesis disorder, complementation group 3 UMLS:C3553929|DOID:0080478|NCIT:C155752|OMIM:614859|MESH:C566633|Orphanet:912 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class FOODON:03412112 biolink:NamedThing mollusc *Mollusca* is a large phylum of invertebrate animals whose members are known as molluscs or mollusks. Molluscs are the largest marine phylum, comprising about 23% of all the named marine organisms. Numerous molluscs also live in freshwater and terrestrial habitats. [https://en.wikipedia.org/wiki/Mollusca] tmpaxzxjjyw_mondo_relaxed.owl Mollusca|mollusk owl:Class CL:1000716 biolink:NamedThing kidney outer medulla collecting duct principal cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001132 cell owl:Class MONDO:0054637 biolink:NamedThing Noonan syndrome-like disorder with loose anagen hair 1 tmpaxzxjjyw_mondo_relaxed.owl Noonan syndrome-like disorder with loose anagen hair 1|NSLH|NSLH1|Tosti syndrome OMIM:607721 owl:Class PATO:0002039 biolink:NamedThing biconcave A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces. tmpaxzxjjyw_mondo_relaxed.owl owl:Class N7bfe442580a24714b5229ebe6289f635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:1000011 biolink:NamedThing labial commissure tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:60516 biolink:NamedThing Dibothriocephalus latus tmpaxzxjjyw_mondo_relaxed.owl Diphyllobothrium latum|broad fish tapeworm GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014781 biolink:NamedThing combined oxidative phosphorylation deficiency 29 Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene. tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency type 29|TXN2 combined oxidative phosphorylation deficiency|COXPD29|combined oxidative phosphorylation deficiency 29|combined oxidative phosphorylation deficiency 29; COXPD29|combined oxidative phosphorylation deficiency caused by mutation in TXN2 UMLS:C4225200|OMIM:616811|DOID:0111501 owl:Class HGNC:17772 biolink:NamedThing TXN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7467 biolink:NamedThing MTTP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013773 biolink:NamedThing porencephaly 2 Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene. tmpaxzxjjyw_mondo_relaxed.owl porencephaly type 2|POREN2|COL4A2 porencephaly|porencephaly 2|porencephaly caused by mutation in COL4A2 UMLS:C3280970|OMIM:614483|Orphanet:99810|Orphanet:2940 owl:Class HsapDv:0000104 biolink:NamedThing 10-year-old human stage Child stage that refers to a child who is over 10 and under 11 years old. tmpaxzxjjyw_mondo_relaxed.owl owl:Class Nc0577a0eadce45f2a9165e065884db53 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl CHEBI:77182 biolink:NamedThing food colouring A food additive that imparts colour to food. In European countries, E-numbers for permitted food colours are from E 100 to E 199, divided into yellows (E 100-109), oranges (E 110-119), reds (E 120-129), blues and violets (E 130-139), greens (E 140-149), browns and blacks (E 150-159), and others (E 160-199). tmpaxzxjjyw_mondo_relaxed.owl food colorings|food colourings|food coloring owl:Class HP:0001907 biolink:NamedThing Thromboembolism The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. tmpaxzxjjyw_mondo_relaxed.owl Blood clot in blood vessel|Embolism and thrombosis|Thromboembolic disease|Thromboembolic events UMLS:C0040038|SNOMEDCT_US:13713005|SNOMEDCT_US:371039008|MSH:D013923|MSH:D016769|UMLS:C0085307 human_phenotype owl:Class MONDO:0006526 biolink:NamedThing allergic urticaria A urticaria with a basis in a pathological type I hypersensitivity reaction. tmpaxzxjjyw_mondo_relaxed.owl allergic form of urticaria (disease)|allergic form of urticaria|allergic urticaria (disease) ICD9:708.0|DOID:10612|EFO:1000669|Wikipedia:Urticaria#Allergic_urticaria|UMLS:C0149526|SCTID:40178009|ICD10:L50.0 owl:Class MONDO:0012826 biolink:NamedThing scoliosis, isolated, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl IS4|scoliosis, isolated, susceptibility to, 4 OMIM:612238 owl:Class UBERON:0001090 biolink:NamedThing synovial fluid tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048103 biolink:NamedThing somatic stem cell division The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. tmpaxzxjjyw_mondo_relaxed.owl somatic stem cell renewal owl:Class Ne1ed5e283a13409c83e4c742d955dc7e biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0009010 biolink:NamedThing periurethral tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2207 biolink:NamedThing COL4A5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024553 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia 1 Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene. tmpaxzxjjyw_mondo_relaxed.owl PUS1 myopathy, lactic acidosis, and sideroblastic anemia|myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1|myopathy, lactic acidosis, and sideroblastic anemia 1|mitochondrial myopathy and sideroblastic anemia|MLASA1 UMLS:C1838103|Orphanet:2598|OMIM:600462|DOID:0111185 owl:Class HGNC:15508 biolink:NamedThing PUS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011455 biolink:NamedThing lissencephaly, familial, with cleft palate and cerebellar hypoplasia tmpaxzxjjyw_mondo_relaxed.owl lissencephaly, familial, with cleft palate and cerebellar hypoplasia UMLS:C1858419|MESH:C565781|OMIM:604382 owl:Class HP:0001339 biolink:NamedThing Lissencephaly A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. tmpaxzxjjyw_mondo_relaxed.owl Fewer or absent grooves in brain UMLS:C0266463|UMLS:C1879312|MSH:D054082|SNOMEDCT_US:204036008 Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci. HP:0002537 human_phenotype owl:Class HGNC:11604 biolink:NamedThing TBX5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005414 biolink:NamedThing treatment-refractory schizophrenia Schizophrenia which does not respond to commonly used treatments. tmpaxzxjjyw_mondo_relaxed.owl treatment-refractory schizophrenia|refractory schizophrenia|TRS EFO:0004609 owl:Class MONDO:0009235 biolink:NamedThing familial benign flecked retina Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits. tmpaxzxjjyw_mondo_relaxed.owl FRFB|FLECK retina, familial benign UMLS:C1856718|OMIM:228980|ICD10:H35.5|MESH:C565564|Orphanet:363989|DOID:0111677 owl:Class UBERON:0001586 biolink:NamedThing internal jugular vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7595 biolink:NamedThing MYO1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007829 biolink:NamedThing cholestasis, intrahepatic, of pregnancy, 1 tmpaxzxjjyw_mondo_relaxed.owl cholestasis, pregnancy-related, 1|cholestasis, intrahepatic, of pregnancy, 1|cholestasis, intrahepatic, of pregnancy, type 1|ICP1 DOID:0070228|UMLS:C3549845|Orphanet:69665|OMIM:147480 https://github.com/monarch-initiative/mondo/issues/3897 owl:Class MONDO:0012314 biolink:NamedThing short QT syndrome type 3 Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene. tmpaxzxjjyw_mondo_relaxed.owl short QT syndrome caused by mutation in KCNJ2|short QT syndrome 3|KCNJ2 short QT syndrome|SQT3|short QT syndrome type 3 UMLS:C1865018|OMIM:609622|MESH:C566504 owl:Class Nc696f19e65dc46e3b856025d5b92d885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0045648 biolink:NamedThing positive regulation of erythrocyte differentiation Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl upregulation of erythrocyte differentiation|positive regulation of RBC differentiation|stimulation of erythrocyte differentiation|up regulation of erythrocyte differentiation|up-regulation of erythrocyte differentiation|activation of erythrocyte differentiation|positive regulation of red blood cell differentiation owl:Class N7fc7ab51921d4cf287c0d8fabb0c4c58 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:26013 biolink:NamedThing DNAAF5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012690 biolink:NamedThing Noonan syndrome 5 Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene. tmpaxzxjjyw_mondo_relaxed.owl NS5|RAF1 Noonan syndrome|Noonan syndrome type 5|RAF1 gene related Noonan syndrome|Noonan syndrome caused by mutation in RAF1|Noonan syndrome 5 MESH:C548083|Orphanet:648|UMLS:C1969057|GARD:0010700|OMIM:611553|DOID:0060583 https://rarediseases.info.nih.gov/diseases/10700/noonan-syndrome-5 owl:Class UBERON:0015150 biolink:NamedThing dorsal hair tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:84143 biolink:NamedThing D-phenylalanine derivative A non-proteinogenic amino acid derivative resulting from reaction of D-phenylalanine at the amino group or the carboxy group, or from the replacement of any hydrogen of D-phenylalanine by a heteroatom. tmpaxzxjjyw_mondo_relaxed.owl D-phenylalanine derivatives owl:Class MONDO:0020602 biolink:NamedThing Simpson-Golabi-Behmel syndrome type 1 Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene. tmpaxzxjjyw_mondo_relaxed.owl Simpson-Golabi-Behmel syndrome type 1|Simpson dysmorphia syndrome|Golabi-Rosen syndrome|GPC3 Simpson-Golabi-Behmel syndrome|SGBS1|Simpson-Golabi-Behmel syndrome caused by mutation in GPC3|Simpson-Golabi-Behmel syndrome, type 1|DGSX Golabi-Rosen syndrome|Sgbs|bulldog syndrome|dysplasia gigantism syndrome, X-linked OMIM:312870|DOID:0060248 owl:Class HGNC:12791 biolink:NamedThing WRN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014665 biolink:NamedThing Charcot-Marie-Tooth disease axonal type 2V Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary adult-onset painful axonal polyneuropathy|Charcot-Marie-Tooth disease caused by mutation in NAGLU|autosomal dominant Charcot-Marie-Tooth disease type 2V|Charcot-Marie-Tooth neuropathy type 2V|CMT2V|Charcot-Marie-Tooth neuropathy, type 2V|autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation|Charcot-Marie-Tooth disease, axonal, type 2V|NAGLU Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V|autosomal dominant axonal Charcot-Marie-Tooth disease type 2V UMLS:C4225306|Orphanet:447964|OMIM:616491|DOID:0110178|ICD10:G60.0 owl:Class HGNC:7632 biolink:NamedThing NAGLU tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002104 biolink:NamedThing IgG-negative double negative memory B cell An IgG-negative double negative memory B cell is a double negative memory B cell with the phenotype IgG-negative, IgD-negative, and CD27-negative. tmpaxzxjjyw_mondo_relaxed.owl IgG- double negative memory B-lymphocyte|IgG-negative double negative memory B-lymphocyte|IgG-negative dn memory B cell|IgG- double negative memory B cell|IgG- double negative memory B lymphocyte|IgG- dn memory B-lymphocyte|IgG- dn memory B-cell|IgG- dn memory B lymphocyte|IgG-negative dn memory B-cell|IgG-negative double negative memory B lymphocyte|IgG-negative dn memory B-lymphocyte|IgG-negative dn memory B lymphocyte|IgG- double negative memory B-cell|IgG-negative double negative memory B-cell|IgG- dn memory B cell cell owl:Class GO:0071735 biolink:NamedThing IgG immunoglobulin complex A protein complex composed of two identical immunoglobulin heavy chains of an IgG isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgG immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph. tmpaxzxjjyw_mondo_relaxed.owl IgG1|IgG2|IgG4|IgG2b|IgG2c|IgG3|IgG2a owl:Class MONDO:0010335 biolink:NamedThing X-linked cone-rod dystrophy 3 tmpaxzxjjyw_mondo_relaxed.owl X-linked cone-rod dystrophy type 3|cone-rod dystrophy X-linked 3|cone-rod dystrophy, X-linked, 3|cone-rod dystrophy, X-linked, type 3|CORDX3 OMIM:300476|GARD:0010654|DOID:0111007|MESH:C564507 https://rarediseases.info.nih.gov/diseases/10654/cone-rod-dystrophy-x-linked-3 owl:Class MONDO:0000303 biolink:NamedThing conidiobolomycosis tmpaxzxjjyw_mondo_relaxed.owl rhinoentomophthoromycosis|Conidiobolus infectious disease|infection by Conidiobolus DOID:0050279|SCTID:240783007|ICD9:111.8|UMLS:C0276712 owl:Class NCBITaxon:34487 biolink:NamedThing Conidiobolus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020714 biolink:NamedThing mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy tmpaxzxjjyw_mondo_relaxed.owl OMIM:251900 owl:Class HGNC:30546 biolink:NamedThing FDX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013384 biolink:NamedThing Hirschsprung disease, susceptibility to, 4 Any Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene. tmpaxzxjjyw_mondo_relaxed.owl EDN3 Hirschsprung disease|Hirschsprung disease, susceptibility to, type 4|Hirschsprung disease caused by mutation in EDN3|Hirschsprung disease, susceptibility to, 4|susceptibility to Hirschsprung disease 4|HSCR4 OMIM:613712|Orphanet:388 owl:Class NCBITaxon:58839 biolink:NamedThing Encephalitozoon intestinalis tmpaxzxjjyw_mondo_relaxed.owl Septata intestinalis GC_ID:1 NCBITaxon:27986 ncbi_taxonomy owl:Class MONDO:0045016 biolink:NamedThing cholesterol catabolic process disease A disease that has its basis in the disruption of cholesterol catabolic process. tmpaxzxjjyw_mondo_relaxed.owl cholesterol catabolism disease|disorder of cholesterol catabolic process|disorder of cholesterol catabolism SCTID:238032002|UMLS:C0342825 owl:Class HGNC:8789 biolink:NamedThing PDE6G tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13780 biolink:NamedThing GFM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:26513 biolink:NamedThing NSMCE2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004829 biolink:NamedThing urethra skeletal muscle tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003410 biolink:NamedThing oropharyngeal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001491 biolink:NamedThing cough variant asthma An asthma that is characterized by chronic nonproductive cough without shortness of breath. tmpaxzxjjyw_mondo_relaxed.owl SCTID:409663006|DOID:12323|ICD10:J45.991|UMLS:C0694548|ICD9:493.82 owl:Class GO:0002284 biolink:NamedThing myeloid dendritic cell differentiation involved in immune response The process in which an immature myeloid dendritic cell acquires the specialized features of a mature myeloid dendritic cell as part of an immune response. tmpaxzxjjyw_mondo_relaxed.owl myeloid dendritic cell differentiation during immune response owl:Class MONDO:0009824 biolink:NamedThing primary hyperoxaluria type 2 Primary hyperoxaluria (PH) type 2 is a rare disorder of glyoxylate metabolism caused by the deficiency of the enzyme glyoxylate reductase/hydropyruvate reductase (GR/HPR) characterized by a childhood onset with clinical manifestations that include recurrent nephrolithiasis, nephrocalcinosis and end-stage renal disease with subsequent systemic oxalosis. tmpaxzxjjyw_mondo_relaxed.owl primary hyperoxaluria type 2|glyoxylate reductase/hydroxypyruvate reductase deficiency|glyceric aciduria|GRHPR primary hyperoxaluria|primary hyperoxaluria type II|hyperoxaluria, primary, type II|primary hyperoxaluria caused by mutation in GRHPR|Oxalosis 2|L-glyceric aciduria|hyperoxaluria, primary, type 2|HP2|D-glycerate dehydrogenase deficiency NCIT:C123213|MESH:C536415|OMIM:260000|Orphanet:416|DOID:0111671|GARD:0002836|ICD10:E74.8|ICD9:271.8|UMLS:C0268165|SCTID:40951006|Orphanet:93599 https://rarediseases.info.nih.gov/diseases/2836/primary-hyperoxaluria-type-2 owl:Class HGNC:4570 biolink:NamedThing GRHPR tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004235 biolink:NamedThing mammary gland smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001759 biolink:NamedThing granular A composition quality inhering in a bearer by virtue of the bearer's containing granules. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007652 biolink:NamedThing esophageal sphincter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032781 biolink:NamedThing congenital hypotonia, epilepsy, developmental delay, and digital anomalies tmpaxzxjjyw_mondo_relaxed.owl CHEDDA|CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES OMIM:618494 owl:Class MONDO:0041093 biolink:NamedThing central retinal vein occlusion with macular edema tmpaxzxjjyw_mondo_relaxed.owl central retinal vein occlusion with macular edema SCTID:232039004 owl:Class MONDO:0700070 biolink:NamedThing myopathy caused by variation in POMT1 Any myopathy in which the cause of the disease is a variation in the POMT1 gene. tmpaxzxjjyw_mondo_relaxed.owl myopathy caused by mutation in POMT1|POMT1-related myopathy|POMT1 myopathy http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0004517 biolink:NamedThing smooth muscle tissue of respiratory bronchiole tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034720 biolink:NamedThing head taste bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013422 biolink:NamedThing type I complement component 8 deficiency Any classic complement early component deficiency in which the cause of the disease is a mutation in the C8A gene. tmpaxzxjjyw_mondo_relaxed.owl C8 deficiency, type 1|C81 deficiency|C8A classic complement early component deficiency|complement component 8 deficiency type 1|complement component 8 deficiency, type I|complement component 8 deficiency, type 1|C8 deficiency type I|complement component 8 deficiency type I|C8 Alpha-gamma deficiency|classic complement early component deficiency caused by mutation in C8A|C8D1|C8Ag deficiency DOID:0060301|UMLS:C3151081|OMIM:613790|GARD:0010626|ICD10:D84.1|HGNC:1352|Orphanet:169150 https://rarediseases.info.nih.gov/diseases/10626/complement-component-8-deficiency-type-1 owl:Class HGNC:1352 biolink:NamedThing C8A tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001575 biolink:NamedThing decreased pressure A pressure which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl low pressure owl:Class MONDO:0009398 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 1 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene. tmpaxzxjjyw_mondo_relaxed.owl hyperphosphatasia with intellectual disability syndrome 1|hyperphosphatasia with mental retardation syndrome type 1|HPMRS1|glycosylphosphatidylinositol biosynthesis defect 2|hyperphosphatasia with mental retardation syndrome 1|hyperphosphatasia with intellectual disability syndrome type 1|Mabry syndrome|hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV|PIGV hyperphosphatasia-intellectual disability syndrome UMLS:C1855923|OMIM:239300|UMLS:CN030519|Orphanet:247262 owl:Class MONDO:0001912 biolink:NamedThing acute frontal sinusitis Acute form of frontal sinusitis. tmpaxzxjjyw_mondo_relaxed.owl frontal sinusitis, acute ICD9:461.1|UMLS:C0155805|ICD10:J01.1|SCTID:91038008|ICD10:J01.10|DOID:14225 owl:Class UBERON:0003446 biolink:NamedThing ankle nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:30497 biolink:NamedThing KIF7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001062 biolink:NamedThing pyloric antrum cancer A malignant neoplasm involving the pyloric antrum. tmpaxzxjjyw_mondo_relaxed.owl malignant pyloric antrum neoplasm|cancer of pyloric antrum|malignant tumor of pyloric antrum|pyloric antrum cancer|malignant neoplasm of pyloric antrum|malignant neoplasm of antrum of stomach SCTID:187740000|ICD10:C16.3|DOID:10547|ICD9:151.2|UMLS:C0153419 owl:Class CL:0002574 biolink:NamedThing stromal cell of pancreas A stromal cell of the pancreas. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-02T02:40:41Z cell owl:Class HGNC:14977 biolink:NamedThing SNX14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010183 biolink:NamedThing methylmalonic aciduria and homocystinuria type cblF A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl methylmalonic acidemia and homocystinuria, cblF type|methylmalonic aciduria and homocystinuria type cblF|methylmalonic aciduria due to vitamin B12-release defect|lysosomal membrane cobalamin transporter deficiency|methylmalonic aciduria with homocystinuria, type cblF|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF|cobalamin F disease|cobalamin F deficiency|vitamin B12 lysosomal release defect|methylmalonic acidemia with homocystinuria type cblF|inherited methylmalonic acidemia and homocystinuria|cblF defect|vitamin B12 storage disease|cobalamin F defect|methylmalonic aciduria and homocystinuria, cblF type|cblF methylmalonic acidemia and homocystinuria|MAHCF|cobalamin locus f variant|cobalamin, defect in lysosomal release of GARD:0003584|DOID:0050717|MESH:C564747|Orphanet:79284|SCTID:80887004|ICD10:E72.1|OMIM:277380|Orphanet:26 Editor note: TODO - relevant annotation from GO owl:Class GO:0015889 biolink:NamedThing cobalamin transport The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl vitamin B12 transport owl:Class HGNC:30343 biolink:NamedThing DNAJC13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043004 biolink:NamedThing Weil's disease A jauncice caused by severe leptospirosis. tmpaxzxjjyw_mondo_relaxed.owl Weils disease|spirochetal jaundice|leptospirosis, icterohemorrhagic|Weil's disease|Icterohemorrhagic leptospirosis|Weil disease|weil's disease|disease, Weil's|icteric leptospirosis|jaundice, spirochetal|disease, Weil SCTID:398067003|MESH:D014895 owl:Class HGNC:5964 biolink:NamedThing IL10RA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010943 biolink:NamedThing schizophrenia 4 A schizophrenia that has material basis in an autosomal dominant mutation of PRODH on chromosome 22q11.21. tmpaxzxjjyw_mondo_relaxed.owl SCZD4|schizophrenia 4|schizophrenia type 4|schizophrenia susceptibility locus, chromosome 22Q11-related UMLS:C1833247|OMIM:600850|DOID:0070080 owl:Class Nc32a5f169a0744008dc8feaec2d7802a biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013251 biolink:NamedThing Birbeck granule deficiency tmpaxzxjjyw_mondo_relaxed.owl Birbeck granule deficiency|Birbeck granules, absence of OMIM:613393|UMLS:C3150657 owl:Class UBERON:0017649 biolink:NamedThing dorsal body wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001894 biolink:NamedThing Thrombocytosis Increased numbers of platelets in the peripheral blood. tmpaxzxjjyw_mondo_relaxed.owl Thrombocythemia|Increased platelet count|Thrombocythaemia|Increased number of platelets in blood SNOMEDCT_US:6631009|SNOMEDCT_US:415115007|UMLS:C0857460|UMLS:C0836924|MSH:D013922 Thrombocythemia and thrombocytosis are conditions with a higher than normal number of platelets. The term "thrombocythemia" is preferred when the cause of a high platelet count isn't known. The condition sometimes is called primary or essential thrombocythemia. human_phenotype owl:Class HGNC:20197 biolink:NamedThing SLC35C1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002427 biolink:NamedThing resting double-positive thymocyte A double-positive, alpha-beta thymocyte that is small and not proliferating. tmpaxzxjjyw_mondo_relaxed.owl T.DP.sm.Th tmeehan 2010-10-21T01:59:06Z cell owl:Class UBERON:0011857 biolink:NamedThing acinus of lacrimal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001136 biolink:NamedThing chylocele of tunica vaginalis tmpaxzxjjyw_mondo_relaxed.owl ICD9:608.84|UMLS:C0156315|DOID:10835|SCTID:7864001 owl:Class NCBITaxon:7162 biolink:NamedThing Ochlerotatus triseriatus tmpaxzxjjyw_mondo_relaxed.owl Aedes triseriatus GC_ID:1 NCBITaxon:190384 ncbi_taxonomy owl:Class HGNC:3631 biolink:NamedThing FDPS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012664 biolink:NamedThing spastic ataxia 3 Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene. tmpaxzxjjyw_mondo_relaxed.owl ARSAL|autosomal recessive spastic ataxia with leukoencephalopathy|spastic ataxia type 3|spastic ataxia 3, autosomal recessive|autosomal recessive spastic ataxia caused by mutation in MARS2|autosomal recessive spastic ataxia type 3|SPAX3|MARS2 autosomal recessive spastic ataxia OMIM:611390|DOID:0050942|Orphanet:314603|MESH:C566956|UMLS:CN230089|UMLS:C1969645|ICD10:G11.4 owl:Class UBERON:0010191 biolink:NamedThing aortic system tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17619 biolink:NamedThing NDE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000233 biolink:NamedThing Japanese spotted fever A spotted fever that has material basis in Rickettsia japonica, which is transmitted by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has symptom fever, has symptom eschars, has symptom regional adenopathy, and has symptom rash on extremities. tmpaxzxjjyw_mondo_relaxed.owl Rickettsia japonica spotted fever|Japanese spotted fever|oriental spotted fever|fevers, Japanese spotted|spotted fever, Japanese|fever, Japanese spotted|Japanese spotted fevers DOID:0050050|UMLS:C2108396 owl:Class HGNC:10872 biolink:NamedThing ST3GAL5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:37162 biolink:NamedThing Mycobacterium avium complex sp. tmpaxzxjjyw_mondo_relaxed.owl Mycobacterium avium complex bacterium GC_ID:11 ncbi_taxonomy owl:Class HGNC:11204 biolink:NamedThing SOX9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048232 biolink:NamedThing male gamete generation Generation of the male gamete; specialised haploid cells produced by meiosis and along with a female gamete takes part in sexual reproduction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:103826 biolink:NamedThing Thelazia tmpaxzxjjyw_mondo_relaxed.owl eyeworms GC_ID:1 ncbi_taxonomy owl:Class UBERON:0005754 biolink:NamedThing rostral part of nephrogenic cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016303 biolink:NamedThing congenitally uncorrected transposition of the great arteries with cardiac malformation tmpaxzxjjyw_mondo_relaxed.owl TGA with cardiac malformation|congenitally uncorrected transposition of the great vessels with cardiac malformation ICD10:Q20.3|Orphanet:216729 owl:Class MONDO:0016180 biolink:NamedThing hematological disease associated with an acquired peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN200930|Orphanet:209016 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Editor note: in ORDO, classified as an acquired peripheral neuropathy, which means plasmacytoma is classified as a nervous system disease MONDO_0005570 owl:Class MONDO:0024531 biolink:NamedThing myopathy, tubular aggregate, 1 Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene. tmpaxzxjjyw_mondo_relaxed.owl myopathy, tubular aggregate, 1|STIM1 tubular aggregate myopathy|myopathy, tubular aggregate|TAM1|tubular aggregate myopathy caused by mutation in STIM1|tubular aggregate myopathy UMLS:C4011726|Orphanet:2593|OMIM:160565 owl:Class HGNC:20202 biolink:NamedThing CACNA2D4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr11q22.2-q22.3 biolink:NamedThing 11q22.2-q22.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0013299 biolink:NamedThing chromosome 6q11-q14 deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl chromosome 6Q13-q14 deletion syndrome|chromosome 6q11-q14 deletion syndrome DOID:0060423|OMIM:613544|UMLS:C3150790 owl:Class MONDO:0023868 biolink:NamedThing melanoma associated retinopathy Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision. tmpaxzxjjyw_mondo_relaxed.owl Melanoma associated retinopathy|Melanoma-associated retinopathy|Melanoma-Associated Retinopathies|Melanoma-Associated Retinopathy|Melanoma Associated Retinopathy|Retinopathy, Melanoma-Associated|Retinopathies, Melanoma-Associated GARD:0012041|UMLS:C0730308|SCTID:312941005 owl:Class CHEBI:61951 biolink:NamedThing microtubule-destabilising agent Any substance that interacts with tubulin to inhibit polymerisation of microtubules. tmpaxzxjjyw_mondo_relaxed.owl microtubule-destabilising agents|microtubule-destabilizing agents|microtubule destabilising agent|microtubule destabilizing role|microtubule-destabilizing agent|microtubule destabilising role|microtubule destabilising agents owl:Class HGNC:10941 biolink:NamedThing SLC1A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004115 biolink:NamedThing blood vessel of tympanic cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0140241 biolink:NamedThing translation at synapse Translation that occurs at the synapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class N591520a87ef24cc890d3bd415b0fbbc0 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:5970 biolink:NamedThing Exophiala dermatitidis tmpaxzxjjyw_mondo_relaxed.owl Hormiscium dermatitidis|Wangiella dermatitidis GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015570 biolink:NamedThing isolated congenital auditory ossicle malformation Isolated congenital auditory ossicle malformation is a rare, congential, middle ear anomaly characterized by, usually unilateral and sporadic, variations in the number, size and/or configuration of the ossicles, with no tympanic membrane and external ear abnormalities and no history of trauma or infection. Patients frequently present late, after schooling has started, with non- progressive, conductive hearing loss often associated with speech delay and poor school performance. tmpaxzxjjyw_mondo_relaxed.owl congenital auditory ossicle malformation without external ear abnormality Orphanet:162526|ICD10:Q16.3 owl:Class MONDO:0009619 biolink:NamedThing microcephaly-micromelia syndrome tmpaxzxjjyw_mondo_relaxed.owl microcephaly-micromelia syndrome|MIMIS Orphanet:572768|OMIM:251230|MESH:C565382|UMLS:C1855079 owl:Class HGNC:2993 biolink:NamedThing DONSON tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000321 biolink:NamedThing sea water environment An environmental system determined by seawater. tmpaxzxjjyw_mondo_relaxed.owl ocean water environment owl:Class GO:0003091 biolink:NamedThing renal water homeostasis Renal process involved in the maintenance of an internal steady state of water in the body. tmpaxzxjjyw_mondo_relaxed.owl water homeostasis by the renal system owl:Class MONDO:0003535 biolink:NamedThing fallopian tube papillary adenocarcinoma An adenocarcinoma that arises from the fallopian tube and is characterized by a papillary architectural pattern. tmpaxzxjjyw_mondo_relaxed.owl papillary adenocarcinoma of the fallopian tube|fallopian tube papillary adenocarcinoma|papillary adenocarcinoma of fallopian tube NCIT:C6267|UMLS:C1333595|DOID:5597 owl:Class MONDO:0012154 biolink:NamedThing myopia 6 Any myopia in which the cause of the disease is a mutation in the SCO2 gene. tmpaxzxjjyw_mondo_relaxed.owl myopia (disease) caused by mutation in SCO2|myopia 6|MYP6|myopia type 6|SCO2 myopia (disease)|myopia, susceptibility to OMIM:608908|Orphanet:98619|GARD:0009937|MESH:C536105 https://rarediseases.info.nih.gov/diseases/9937/myopia-6 owl:Class UBERON:0014621 biolink:NamedThing cervical spinal cord ventral horn tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014351 biolink:NamedThing pontocerebellar hypoplasia type 9 Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2|PCH9|AMPD2 non-syndromic pontocerebellar hypoplasia|pontocerebellar hypoplasia, type 9 OMIM:615809|ICD10:Q04.3|DOID:0060278|Orphanet:369920|UMLS:C4014354 owl:Class NCBITaxon:2560526 biolink:NamedThing Human orthorubulavirus 4 tmpaxzxjjyw_mondo_relaxed.owl Human parainfluenza virus type 4|HPIV4|HPIV type 4|Human parainfluenza virus 4|human parainfluenza virus|Parainfluenza virus type 4|Human rubulavirus 4 GC_ID:1 NCBITaxon:1979161|NCBITaxon:11203 ncbi_taxonomy owl:Class MONDO:0022859 biolink:NamedThing cor biloculare A congenital anatomic anomaly in which the heart has only two chambers. tmpaxzxjjyw_mondo_relaxed.owl cor biloculare|Cor Biloculare|absence of atrial and ventricular septa|TWO-chambered heart SCTID:81990004|GARD:0006193|ICD9:745.7|UMLS:C0152238|NCIT:C124591 https://rarediseases.info.nih.gov/diseases/6193/cor-biloculare owl:Class UBERON:0016512 biolink:NamedThing lumen of duodenum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013686 biolink:NamedThing distal myopathy, Tateyama type Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability. tmpaxzxjjyw_mondo_relaxed.owl myopathy, distal, Tateyama type|MPDT Orphanet:488650|OMIM:614321|DOID:0111191|UMLS:C3280443|SCTID:711265009 owl:Class MONDO:0700033 biolink:NamedThing complete trisomy 13 Trisomy 13 in which the presence of an extra copy of chromosome 13 is present in all the cells of the organism. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0004514 biolink:NamedThing chronic rhinitis Chronic inflammation of the nasal cavity mucosa. It may lead to post-nasal drip resulting in chronic sore throat and chronic cough. tmpaxzxjjyw_mondo_relaxed.owl rhinitis, chronic|rhinitis - chronic NCIT:C34479|SCTID:86094006|UMLS:C0008711|ICD9:472.0|ICD10:J31.0|DOID:8252 owl:Class HP:0002257 biolink:NamedThing Chronic rhinitis Chronic inflammation of the nasal mucosa. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008711|SNOMEDCT_US:86094006 human_phenotype owl:Class HGNC:10327 biolink:NamedThing RPL26 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005853 biolink:NamedThing sacral spinal cord ventral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044915 biolink:NamedThing salivary duct carcinoma An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of salivary duct|high grade salivary duct carcinoma|duct of salivary gland carcinoma|salivary duct carcinoma|carcinoma of duct of salivary gland|carcinoma of the salivary duct ONCOTREE:SDCA|UMLS:C1301194|NCIT:C5904 owl:Class MONDO:0014328 biolink:NamedThing developmental and epileptic encephalopathy, 19 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 19|EIEE19|epileptic encephalopathy, early infantile, type 19|early infantile epileptic encephalopathy caused by mutation in GABRA1|DEE19|Early Infantile epileptic encephalopathy 19|GABRA1 early infantile epileptic encephalopathy DOID:0080431|Orphanet:33069|UMLS:C3810400|OMIM:615744|NCIT:C142802 owl:Class HGNC:4075 biolink:NamedThing GABRA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013944 biolink:NamedThing autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation tmpaxzxjjyw_mondo_relaxed.owl AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated|APLAID UMLS:C3553961|OMIM:614878|Orphanet:324530 owl:Class MONDO:0014104 biolink:NamedThing cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene. tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia, intellectual disability, and dysequilibrium syndrome type 4|cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4|cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4|dysequilibrium syndrome caused by mutation in ATP8A2|ATP8A2 dysequilibrium syndrome|cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4|CAMRQ4|cerebellar ataxia and intellectual disability with or without quadrupedal locomotion 4|cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4 Orphanet:1766|UMLS:C3808977|OMIM:615268 owl:Class HGNC:11708 biolink:NamedThing TDO2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012987 biolink:NamedThing agammaglobulinemia 6, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the CD79B gene. tmpaxzxjjyw_mondo_relaxed.owl CD79B autosomal agammaglobulinemia|autosomal agammaglobulinemia caused by mutation in CD79B|agammaglobulinemia 6, autosomal recessive|agammaglobulinemia, autosomal recessive, due to Cd79B defect|AGM6 Orphanet:33110|UMLS:C3150207|OMIM:612692|Orphanet:229717 owl:Class CHEBI:35498 biolink:NamedThing diuretic An agent that promotes the excretion of urine through its effects on kidney function. tmpaxzxjjyw_mondo_relaxed.owl diuretics owl:Class HGNC:7381 biolink:NamedThing MST1R tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002153 biolink:NamedThing Hyperkalemia An abnormally increased potassium concentration in the blood. tmpaxzxjjyw_mondo_relaxed.owl Elevated serum potassium levels SNOMEDCT_US:14140009|MSH:D006947|UMLS:C0020461|SNOMEDCT_US:238142003|SNOMEDCT_US:166689004 human_phenotype owl:Class MONDO:0014491 biolink:NamedThing immunodeficiency 37 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene. tmpaxzxjjyw_mondo_relaxed.owl BCL10 primary immunodeficiency disease|immunodeficiency type 37|immunodeficiency 37|primary immunodeficiency disease caused by mutation in BCL10|IMD37 OMIM:616098|UMLS:C4015195 owl:Class MONDO:0014568 biolink:NamedThing hereditary spastic paraplegia 73 Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. tmpaxzxjjyw_mondo_relaxed.owl hereditary spastic paraplegia type 73|spastic paraplegia 73, autosomal dominant|CPT1C autosomal dominant pure spastic paraplegia|autosomal dominant spastic paraplegia type 73|SPG73|autosomal dominant spastic paraplegia 73|autosomal dominant pure spastic paraplegia caused by mutation in CPT1C UMLS:C4225387|OMIM:616282|Orphanet:444099|ICD10:G11.4|DOID:0110818 owl:Class MONDO:0000489 biolink:NamedThing diabetic encephalopathy A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050850 owl:Class MONDO:0014869 biolink:NamedThing hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome tmpaxzxjjyw_mondo_relaxed.owl hydrops, lactic acidosis, and sideroblastic anemia|HLASA UMLS:C4310761|Orphanet:528091|OMIM:617021 owl:Class GO:0042074 biolink:NamedThing cell migration involved in gastrulation The migration of individual cells within the blastocyst to help establish the multi-layered body plan of the organism (gastrulation). For example, the migration of cells from the surface to the interior of the embryo (ingression). tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11620 biolink:NamedThing Lassa mammarenavirus tmpaxzxjjyw_mondo_relaxed.owl Lassa virus GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:53436 biolink:NamedThing Treponema pallidum subsp. endemicum tmpaxzxjjyw_mondo_relaxed.owl Treponema pallidum endemicum GC_ID:11 ncbi_taxonomy owl:Class UBERON:0008887 biolink:NamedThing rectal venous plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005666 biolink:NamedThing 4th arch endoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8011 biolink:NamedThing CNTNAP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:649 biolink:NamedThing ARCN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008780 biolink:NamedThing inner cell mass derived epiblast tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010252 biolink:NamedThing intellectual disability, X-linked, with panhypopituitarism tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, with isolated Growth hormone deficiency|intellectual disability, X-linked, with panhypopituitarism|intellectual disability, X-linked, with isolated Growth hormone deficiency|mental retardation, X-linked, with panhypopituitarism Orphanet:631|Orphanet:231692|OMIM:300123|Orphanet:67045 owl:Class HGNC:397 biolink:NamedThing ALAS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1321 biolink:NamedThing TIMMDC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000486 biolink:NamedThing basal cell of urothelium A basal cell that is part of the urothelium. tmpaxzxjjyw_mondo_relaxed.owl FMA:84150 cell owl:Class MONDO:0014062 biolink:NamedThing mitochondrial DNA deletion syndrome with progressive myopathy tmpaxzxjjyw_mondo_relaxed.owl mitochondrial DNA deletion syndrome with limb-girdle weakness|mtDNA deletion syndrome with progressive myopathy|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6|mtDNA deletion syndrome with limb-girdle weakness|PEOA6|progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6|progressive external ophthalmoplegia, autosomal dominant 6 Orphanet:352470|OMIM:615156|DOID:0111519|UMLS:C3554599|ICD10:G71.3 owl:Class MONDO:0018341 biolink:NamedThing 3q27.3 microdeletion syndrome 3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. tmpaxzxjjyw_mondo_relaxed.owl Del(3)(q27.3) ICD10:Q93.5|Orphanet:397695|UMLS:CN225942 owl:Class UBERON:0005229 biolink:NamedThing lower leg epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009671 biolink:NamedThing nasal fin tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002435 biolink:NamedThing CD69-positive, CD8-positive single-positive thymocyte A CD8-positive, CD4-negative thymocyte that expresses high levels of the alpha-beta T cell receptor and is CD69-positive. tmpaxzxjjyw_mondo_relaxed.owl T.8SP69+.Th|intermediate CD8-single-positive tmeehan 2010-10-21T02:59:14Z cell owl:Class UBERON:0002059 biolink:NamedThing submandibular ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017862 biolink:NamedThing paraquat poisoning Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227212|ICD10:T60.3|Orphanet:31827 owl:Class CHEBI:34905 biolink:NamedThing paraquat An organic cation that consists of 4,4'-bipyridine bearing two N-methyl substituents loctated at the 1- and 1'-positions. tmpaxzxjjyw_mondo_relaxed.owl N,N'-dimethyl-4,4'-bipyridinium dication|dimethyl viologen|paraquat dication|1,1'-dimethyl-[4,4'-bipyridin]-1,1'-diium|paraquat ion|Paraquat|N,N'-dimethyl-4,4'-bipyridinium|1,1'-Dimethyl-4,4'-bipyridinium|1,1'-dimethyl-4,4'-bipyridyldiylium|methyl viologen ion(2+) owl:Class MONDO:0004911 biolink:NamedThing cardiovascular syphilis A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. tmpaxzxjjyw_mondo_relaxed.owl ICD9:093.9|SCTID:83883001|ICD9:093.8|UMLS:C0039130|ICD9:093.89|DOID:9880 owl:Class GO:0099536 biolink:NamedThing synaptic signaling Cell-cell signaling to, from or within a synapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25695 biolink:NamedThing CARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013774 biolink:NamedThing trigonocephaly 2 Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene. tmpaxzxjjyw_mondo_relaxed.owl TRIGNO2|trigonocephaly type 2|craniosynostosis, metopic|trigonocephaly 2|isolated trigonocephaly caused by mutation in FREM1|FREM1 isolated trigonocephaly OMIM:614485|Orphanet:3366 owl:Class MONDO:0019100 biolink:NamedThing neuromyelitis optica Neuromyelitis optica (NMO) and NMO spectrum disorders are inflammatory demyelinating diseases of the central nervous system characterized mainly by attacks of uni- or bilateral optic neuritis (ON) and acute myelitis. tmpaxzxjjyw_mondo_relaxed.owl Devic's disease|Devic disease|NMO|Devic syndrome|Devic's syndrome|Devic's neuromyelitis optica GARD:0006267|DOID:8869|MESH:D009471|Orphanet:71211|ICD9:341.0|NCIT:C84934|ICD10:G36.0|MedDRA:10029322|SCTID:25044007|UMLS:C0027873|EFO:0004256 https://rarediseases.info.nih.gov/diseases/6267/neuromyelitis-optica owl:Class MONDO:0014771 biolink:NamedThing Joubert syndrome 26 Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome type 26|KIAA0556 Joubert syndrome|Joubert syndrome caused by mutation in KIAA0556|Joubert syndrome 26|JBTS26 OMIM:616784|UMLS:C4084843|DOID:0110995 owl:Class MONDO:0013120 biolink:NamedThing 46,XY sex reversal 5 tmpaxzxjjyw_mondo_relaxed.owl disorder of Sex development, 46,XY, Cbx2-related|46,XY gonadal dysgenesis, complete, Cbx2-related|46,XY SEX reversal 5|46,XY Sex reversal type 5|46,XY sex reversal 5|46,XY Sex reversal, Cbx2-related|SRXY5|Sex reversal, XY, Cbx2-related Orphanet:242|OMIM:613080|UMLS:C2751317|DOID:0111776|MESH:C567766 owl:Class GO:0034101 biolink:NamedThing erythrocyte homeostasis Any process of regulating the production and elimination of erythrocytes within an organism. tmpaxzxjjyw_mondo_relaxed.owl red blood cell homeostasis|RBC homeostasis owl:Class NCBITaxon:29908 biolink:NamedThing Sporothrix schenckii tmpaxzxjjyw_mondo_relaxed.owl Rhinocladium schenckii|Sporotrichum schenckii GC_ID:1 ncbi_taxonomy owl:Class UBERON:0010417 biolink:NamedThing lymph node T cell domain tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017899 biolink:NamedThing autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal dominant (AD) mendelian susceptibility to mycobacterial diseases (MSMD) due to a partial deficiency describes a group of variants of MSMD due to dominantly inherited partial deficiencies in interferon gamma receptor 1 (IFN-gammaR1), IFN-gammaR2, signal transducer and activator of transcription 1 (STAT1) or interferon regulator factor 8 (IRF8). tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant MSMD due to a partial deficiency|mendelian susceptibility to mycobacterial diseases due to a partial deficiency, autosomal dominant 2022-03-01 Orphanet:319543|ICD10:D84.8|UMLS:CN203955 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited disease susceptibility' MONDO_0020573 owl:Class HGNC:1583 biolink:NamedThing CCND2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7871 biolink:NamedThing NONO tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:562 biolink:NamedThing Escherichia coli tmpaxzxjjyw_mondo_relaxed.owl E. coli|Bacterium coli commune|Enterococcus coli|Bacillus coli|Bacterium coli|Escherichia/Shigella coli PMID:10319482|GC_ID:11 NCBITaxon:469598|NCBITaxon:662104|NCBITaxon:1637691|NCBITaxon:662101 ncbi_taxonomy owl:Class CL:0000027 biolink:NamedThing smooth muscle cell neural crest derived A smooth muscle cell derived from the neural crest. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CHEBI:17514 biolink:NamedThing cyanide A pseudohalide anion that is the conjugate base of hydrogen cyanide. tmpaxzxjjyw_mondo_relaxed.owl Prussiate|nitridocarbonate(1-)|CYANIDE ION|CN-|Cyanide|cyanide|CN(-)|Zyanid owl:Class CL:0002236 biolink:NamedThing basal epithelial cell of prostatic duct A cell that constitutes the basal layer of epithelium in the prostatic duct. tmpaxzxjjyw_mondo_relaxed.owl FMA:74226 tmeehan 2010-09-07T01:59:12Z CL:1000463 cell owl:Class HP:0000486 biolink:NamedThing Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. tmpaxzxjjyw_mondo_relaxed.owl Cross-eyed|Squint eyes|Squint MSH:D013285|SNOMEDCT_US:128602000|SNOMEDCT_US:22066006|UMLS:C0038379 HP:0000487 human_phenotype owl:Class HGNC:20207 biolink:NamedThing B3GLCT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013510 biolink:NamedThing melanoma, cutaneous malignant, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl susceptibility to cutaneous malignant melanoma 6|melanoma, cutaneous malignant, susceptibility to, 6|melanoma, cutaneous malignant, susceptibility to, type 6|CMM6 OMIM:613972|Orphanet:618 owl:Class HGNC:20581 biolink:NamedThing CYP26B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007071 biolink:NamedThing adrenocortical hypofunction, chronic primary congenital tmpaxzxjjyw_mondo_relaxed.owl adrenocortical hypofunction, chronic primary congenital|Addison disease, congenital Orphanet:85138|MESH:C562711|OMIM:103230|SCTID:12427005|ICD9:255.41|UMLS:C0271740 owl:Class MONDO:0000960 biolink:NamedThing diabetic peripheral angiopathy Diabetic angiopathy is a form of angiopathy associated with diabetic complications. tmpaxzxjjyw_mondo_relaxed.owl diabetic vascular disorder|diabetic angiopathy SCTID:127014009|ICD9:250.7|DOID:11713|DOID:10182|EFO:1000896|UMLS:C0011871|NCIT:C35610|MESH:D003925|ICD9:443.81|UMLS:C0011875 owl:Class Nbd003cc367d643e1889d0f2dccd11f28 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ENVO:01001055 biolink:NamedThing environment associated with an animal part or small animal An environmental system determined by part of a living or dead animal, or a whole small animal. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000941 biolink:NamedThing eyelid degenerative disorder A neurodegenerative disease that involves the eyelid. tmpaxzxjjyw_mondo_relaxed.owl neurodegenerative disease of eyelid|eyelid neurodegenerative disease ICD9:374.50|DOID:10120|SCTID:1112003|UMLS:C0155209 owl:Class MONDO:0004333 biolink:NamedThing pancreatic ACTH-producing neuroendocrine tumor A malignant, ectopic ACTH secreting pancreatic neuroendocrine tumor, associated with Cushing's syndrome. The prognosis is usually poor. tmpaxzxjjyw_mondo_relaxed.owl pancreatic ACTH producing NET|pancreatic adrenocorticotropic hormone producing tumor|pancreatic ACTH hormone producing tumor|pancreatic ACTH producing tumor|pancreatic ACTH-producing neuroendocrine tumor|pancreatic ACTH producing neuroendocrine tumor DOID:7697|ICDO:8158/1|NCIT:C27466|UMLS:C1335300 owl:Class UBERON:0006601 biolink:NamedThing presumptive ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012703 biolink:NamedThing lissencephaly due to TUBA1A mutation Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. tmpaxzxjjyw_mondo_relaxed.owl LIS3|lissencephaly 3|lissencephaly type 3 Orphanet:171680|UMLS:CN200289|NCIT:C148461|ICD10:Q04.3|MESH:C566908|OMIM:611603 owl:Class HGNC:20766 biolink:NamedThing TUBA1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1161 biolink:NamedThing CEP55 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014422 biolink:NamedThing vesicoureteral reflux 8 Any vesicoureteral reflux in which the cause of the disease is a mutation in the TNXB gene. tmpaxzxjjyw_mondo_relaxed.owl VUR8|vesicoureteral reflux 8|vesicoureteral reflux (disease) caused by mutation in TNXB|vesicoureteral reflux type 8|TNXB vesicoureteral reflux (disease) OMIM:615963|UMLS:C4014831|Orphanet:289365 owl:Class HGNC:11976 biolink:NamedThing TNXB tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001781 biolink:NamedThing part of a landmass A solid astronomical body part which is part of the landmass of that body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11277 biolink:NamedThing SPTLC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21528 biolink:NamedThing DIABLO tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr5p13 biolink:NamedThing 5p13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 42500000 28900000 hg38 owl:Class MONDO:0013566 biolink:NamedThing Fanconi anemia complementation group L Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene. tmpaxzxjjyw_mondo_relaxed.owl Fanconi anemia, complementation group L|FANCL|Fanconi anemia complementation group L|Fanconi anemia complementation group type L|Fanconi Anemia, complementation Group 50|Fanconi Anemia, complementation group type 50|Fanconi anemia caused by mutation in FANCL|FANCL Fanconi anemia OMIM:614083|DOID:0111082 owl:Class MONDO:0016734 biolink:NamedThing anaplastic ganglioglioma A WHO grade III neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and anaplastic glial cells. The anaplastic changes in the glial component and high MIB-1 and TP53 labeling indices may indicate aggressive behavior. However, the correlation of histological anaplasia with clinical outcome is inconsistent. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl AGNG GARD:0010639|Orphanet:251957|UMLS:C0431112|NCIT:C4717|ONCOTREE:AGNG|ICDO:9505/3 https://rarediseases.info.nih.gov/diseases/10639/anaplastic-ganglioglioma owl:Class HGNC:11132 biolink:NamedThing SNAP25 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005028 biolink:NamedThing mucosa of maxillary sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11280 biolink:NamedThing SQSTM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8859 biolink:NamedThing PEX6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0008071 biolink:NamedThing Maternal hypertension Increased blood pressure during a pregnancy. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:288250001|UMLS:C0565599 human_phenotype owl:Class MONDO:0019437 biolink:NamedThing enthesitis-related juvenile idiopathic arthritis Enthesitis-related juvenile idiopathic arthritis is a subtype of juvenile idiopathic arthritis that is characterized by both arthritis and inflammation of an enthesitis site (the point at which a ligament, tendon, or joint capsule attaches to the bone). Signs and symptoms generally develop in late childhood or early adolescence and include pain, tenderness, and swelling in joints and at the enthesis. The knee and the back of the ankle (at the Achilles tendon) are the most commonly affected parts of the body. The underlying cause of enthesitis-related juvenile idiopathic arthritis is currently unknown (idiopathic). It is very rare for more than one member of a family to have juvenile arthritis; however, research suggests that having a family member with juvenile arthritis or any autoimmune disease may increase the risk of having juvenile arthritis, in general. Treatment usually involves different types of medications to help manage symptoms and/or physical therapy. tmpaxzxjjyw_mondo_relaxed.owl enthesitis-related JIA|enthesitis-related arthritis|juvenile enthesitis-related arthritis|juvenile spondylarthropathy|era|enthesitis related arthritis, juvenile Orphanet:85438|ICD10:M08.8|SCTID:410801005|GARD:0010969|NCIT:C119024 https://rarediseases.info.nih.gov/diseases/10969/enthesitis-related-juvenile-idiopathic-arthritis owl:Class HGNC:368 biolink:NamedThing AKAP10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010016 biolink:NamedThing sclerosteosis 1 Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene. tmpaxzxjjyw_mondo_relaxed.owl SOST|SOST1|sclerosteosis caused by mutation in SOST|SOST sclerosteosis|cortical hyperostosis with syndactyly|sclerosteosis 1|sclerosteosis type 1 Orphanet:3152|DOID:0060756|ICD10:M85.2|UMLS:CN032489|UMLS:C0265301|OMIM:269500 owl:Class UBERON:0013239 biolink:NamedThing future glans penis tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13273 biolink:NamedThing DUOX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004462 biolink:NamedThing musculature of body wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014121 biolink:NamedThing autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures tmpaxzxjjyw_mondo_relaxed.owl Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures|spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant|autosomal dominant spinal muscular atrophy, lower extremity-predominant 2|spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant|SMALED2 Orphanet:363447|GARD:0013222|UMLS:C3809049|ICD10:G12.1|OMIM:615290|Orphanet:363454 owl:Class HGNC:17208 biolink:NamedThing BICD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5383 biolink:NamedThing IDH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013770 biolink:NamedThing atrial septal defect 9 Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene. tmpaxzxjjyw_mondo_relaxed.owl atrial heart septal defect type 9|atrial heart septal defect caused by mutation in GATA6|GATA6 atrial heart septal defect|atrial septal defect type 9|ASD9|atrial septal defect 9 DOID:0110114|ICD10:Q21.1|Orphanet:1478|UMLS:C3280943|OMIM:614475 owl:Class HP:0004319 biolink:NamedThing Decreased circulating aldosterone level Abnormally reduced levels of aldosterone. tmpaxzxjjyw_mondo_relaxed.owl Low blood aldosterone level|Decreased aldosterone production|Mineralocorticoid insufficiency|Decreased serum aldosterone|Decreased aldosterone|Hypoaldosteronism UMLS:C1846226|UMLS:C0020595|UMLS:C0857899|MSH:D006994|SNOMEDCT_US:60086000 Aldosterone is a hormone that is produce by the adrenal cortex and that acts on the distal tubules and collecting ducts to favor retention of sodium excretion of potassium, and increased water retention, thereby tending to increase blood pressure. Aldosterone is sometimes called a mineralocorticoid because of its influence on sodium homeostasis. peter 2008-02-25T10:45:00Z HP:0002924|HP:0008184|HP:0000355|HP:0008190 human_phenotype owl:Class UBERON:0015410 biolink:NamedThing heart plus pericardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13478 biolink:NamedThing UBE3B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1509 biolink:NamedThing CASP8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014294 biolink:NamedThing chromosome 15q11.2 deletion syndrome 15q11.2 microdeletion syndrome is a rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obsessive-compulsive disorder, epilepsy or seizures. It may also include mild non-specific dysmorphic features (such as dysplastic ears, broad forehead, hypertelorism), cleft palate, neurological and neuroimaging abnormalities (such as ataxia and muscular hypotonia). tmpaxzxjjyw_mondo_relaxed.owl chromosome 15q11.2 microdeletion|15q11.2 microdeletion|monosomy 15q11.2|Del(15)(q11.2)|15q11.2 microdeletion syndrome|chromosome 15q11.2 deletion|15q11.2 BP1-BP2 microdeletion syndrome|chromosome 15q11.2 deletion syndrome OMIM:615656|DOID:0060393|GARD:0010525|UMLS:C3180937|Orphanet:261183|ICD10:Q93.5 owl:Class ENVO:02500001 biolink:NamedThing desertification A type of land degradation in which terrestrial ecosystem becomes increasingly dry, typically losing its bodies of water as well as vegetation and wildlife. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009652 biolink:NamedThing mucolipidosis type III gamma Mucolipidosis III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis II and mucolipidosis III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency. tmpaxzxjjyw_mondo_relaxed.owl mucolipidosis III, variant form|mucolipidosis III, complementation group C|mucolipidosis 3 gamma|mucolipidosis III gamma|mucolipidosis III, Iranian variant form|ML 3C|mucolipidosis type 3 gamma|ML 3 gamma|mucolipidosis 3C|ML III gamma Orphanet:577|UMLS:C1854896|OMIM:252605|NCIT:C129978|Orphanet:423470|MESH:C565367|ICD10:E77.0 owl:Class UBERON:0009611 biolink:NamedThing midbrain neural plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015695 biolink:NamedThing combined immunodeficiency due to CRAC channel dysfunction A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency. tmpaxzxjjyw_mondo_relaxed.owl immune dysfunction due to T-cell inactivation due to calcium entry defect Orphanet:169090|SCTID:717811007|OMIM:612783|OMIM:612782|ICD10:D81.8 owl:Class MONDO:0010047 biolink:NamedThing hereditary spastic paraplegia 5A Autosomal recessive spastic paraplegia type 5A (SPG5A) is a form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia 5A, autosomal recessive|autosomal recessive spastic paraplegia type 5A|autosomal recessive spastic paraplegia|spastic paraplegia type 5B, recessive|pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1|SPG5A|CYP7B1 pure or complex autosomal recessive spastic paraplegia|autosomal recessive spastic paraplegia 5A|spastic paraplegia type 5A|hereditary spastic paraplegia type 5A|spastic paraplegia 5A GARD:0004926|SCTID:763373005|UMLS:C2931357|DOID:0110810|ICD10:G11.4|Orphanet:100986|UMLS:C1849115|OMIM:270800 OMIM obsoleted 600146 and moved it to 270800 so I merged these - smb. owl:Class MONDO:0010459 biolink:NamedThing amyotrophic lateral sclerosis type 15 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the UBQLN2 gene. tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis 15 with or without frontotemporal dementia|ALS15|amyotrophic lateral sclerosis caused by mutation in UBQLN2|amyotrophic lateral sclerosis type 15|UBQLN2 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis 15, with or without frontotemporal dementia|amyotrophic lateral sclerosis 15 OMIM:300857|DOID:0060206|UMLS:C3275459|Orphanet:803 owl:Class MONDO:0011821 biolink:NamedThing Meckel syndrome, type 3 Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene. tmpaxzxjjyw_mondo_relaxed.owl Meckel syndrome, type 3|TMEM67 Meckel syndrome|Meckel syndrome type 3|Meckel syndrome caused by mutation in TMEM67|Meckel-Gruber syndrome, type 3|MKS3|Meckel syndrome 3 UMLS:C1846357|DOID:0070117|MESH:C536132|Orphanet:564|OMIM:607361|GARD:0008744|ICD10:Q61.9 https://rarediseases.info.nih.gov/diseases/8744/meckel-syndrome-type-3 owl:Class UBERON:0036925 biolink:NamedThing wall of eyeball tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25507 biolink:NamedThing VAC14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014081 biolink:NamedThing severe combined immunodeficiency due to CARD11 deficiency Severe combined immunodeficiency due to CARD11 deficiency is a rare combined T and B cell immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions. It presents with severe susceptibility to infections, including opportunistic infections. tmpaxzxjjyw_mondo_relaxed.owl IMD11|CARD11 immunodeficiency|immunodeficiency 11|immunodeficiency type 11|SCID due to CARD11 deficiency|IMD11A Orphanet:357237|OMIM:615206|ICD10:D81.2|UMLS:C3554686 owl:Class HGNC:21478 biolink:NamedThing RFX6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014597 biolink:NamedThing immunodeficiency 39 Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IRF7 gene. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 39|primary immunodeficiency disease caused by mutation in IRF7|IRF7 primary immunodeficiency disease|IMD39|immunodeficiency type 39 OMIM:616345|UMLS:C4225358 owl:Class HGNC:6122 biolink:NamedThing IRF7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:50691 biolink:NamedThing abortifacient A chemical substance that interrupts pregnancy after implantation. tmpaxzxjjyw_mondo_relaxed.owl abortifacient drug|abortifacient agents|abortifacient drugs|abortifacients|abortifacient agent owl:Class MONDO:0008772 biolink:NamedThing amelogenesis imperfecta type 2A1 Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene. tmpaxzxjjyw_mondo_relaxed.owl amelogenesis imperfecta caused by mutation in KLK4|AI2A1|amelogenesis imperfecta type IIA1|amelogenesis imperfecta, pigmented hypomaturation type, 1|KLK4 amelogenesis imperfecta|amelogenesis imperfecta pigmented hypomaturation type|amelogenesis imperfecta, hypomaturation type, IIA1|amelogenesis imperfecta pigmented hypomaturation type 1 MESH:C567146|GARD:0009495|Orphanet:100033|MESH:C538242|DOID:0110057|OMIM:204700|ICD10:K00.5 https://rarediseases.info.nih.gov/diseases/9495/amelogenesis-imperfecta-pigmented-hypomaturation-type owl:Class HGNC:6365 biolink:NamedThing KLK4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014530 biolink:NamedThing autosomal recessive spinocerebellar ataxia 18 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2|GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome|autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency|SCAR18|autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome|spinocerebellar ataxia, autosomal recessive 18|autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2|spinocerebellar ataxia, autosomal recessive type 18|autosomal recessive spinocerebellar ataxia type 18 OMIM:616204|ICD10:G11.1|UMLS:C4015505|Orphanet:363432|DOID:0080042|Orphanet:363429 owl:Class HGNC:14211 biolink:NamedThing BLNK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018325 biolink:NamedThing juvenile myasthenia gravis Juvenile myasthenia gravis (MG) is a rare form of MG, an autoimmune disorder of the neuromuscular junction resulting in ocular manifestations or generalized weakness, with onset before 18 years of age. tmpaxzxjjyw_mondo_relaxed.owl juvenile acquired myasthenia|juvenile autoimmune myasthenia gravis|myasthenia gravis of childhood|pediatric myasthenia gravis|childhood myasthenia gravis ICD10:G70.0|Orphanet:391497 owl:Class CL:0000656 biolink:NamedThing primary spermatocyte A diploid cell that has derived from a spermatogonium and can subsequently begin meiosis and divide into two haploid secondary spermatocytes. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-2194|FMA:72292|BTO:0001115 cell owl:Class HP:0004789 biolink:NamedThing Lactose intolerance An inability to digest lactose. tmpaxzxjjyw_mondo_relaxed.owl Milk intolerance|Lactose intolerance SNOMEDCT_US:267425008|MSH:D007787|SNOMEDCT_US:700094005|UMLS:C0022951 human_phenotype owl:Class MONDO:0009232 biolink:NamedThing Fuhrmann syndrome Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly. tmpaxzxjjyw_mondo_relaxed.owl bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies|Fuhrmann-Rieger-de Sousa syndrome|Fuhrmann syndrome|fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome|fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly ICD10:Q74.8|UMLS:C1856728|SCTID:721296004|MESH:C538189|OMIM:228930|DOID:0090067|Orphanet:2854|GARD:0002410 https://rarediseases.info.nih.gov/diseases/2410/fuhrmann-syndrome owl:Class PO:0020003 biolink:NamedThing plant ovule A plant organ (PO:0009008) that has as parts a nucellus (PO:0020020) in which a female gametophyte (PO:0025279) is located, one or two integuments (PO:0020021), and a funicle (PO:0020006). tmpaxzxjjyw_mondo_relaxed.owl óvulo vegetal (Spanish, exact)|Poaceae ovule (narrow)|胚珠 (Japanese, exact)|Zea ovule (narrow) PO_GIT:70|PO_GIT:464 A seed (PO:0009010) develops from a plant ovule. In angiosperms, a plant ovule is part of a plant ovary (PO:0009072). In conifers, a plant ovule is part of an ovuliferous scale (add term). If you are annotating to this structure for Zea mays or other grasses, please also add an annotation to the corresponding floret type. Choose the most specific term possible from: spikelet floret (PO:0009082), ear floret (PO:0006354), upper floret of pedicellate spikelet of ear (PO:0006350), upper floret of sessile spikelet of ear (PO:0006352). PO:0006491|PO:0006457 plant_anatomy owl:Class CL:0002554 biolink:NamedThing fibroblast of lymphatic vessel A fibroblast of the lymphatic system. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-02-28T05:16:18Z cell owl:Class UBERON:0005081 biolink:NamedThing ureter ureteric bud tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6155 biolink:NamedThing ITGB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4419 biolink:NamedThing GNRH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1967 biolink:NamedThing CHRNG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005563 biolink:NamedThing nut midline carcinoma A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene. tmpaxzxjjyw_mondo_relaxed.owl carcinoma with t(15;19)(q13;p13.1) translocation|NUT carcinoma|NUT midline carcinoma of the head and neck|NMC|nuclear protein in testis midline carcinoma|NUT Midline carcinoma|Midline carcinoma of children and Young adults with NUT rearrangement UMLS:C1707291|EFO:0005783|DOID:0060463|Orphanet:443167|ICD10:C80.9|ONCOTREE:NMCHN|UMLS:CN237663|NCIT:C45716|Wikipedia:NUT_midline_carcinoma owl:Class MONDO:0024561 biolink:NamedThing vitelliform macular dystrophy 3 Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. tmpaxzxjjyw_mondo_relaxed.owl foveomacular dystrophy, adult-onset, with or without choroidal neovascularization|foveomacular dystrophy, adult-onset|vitelliform macular dystrophy caused by mutation in PRPH2|VMD3|macular dystrophy, vitelliform, 3|vitelliform macular dystrophy, adult-onset|PRPH2 vitelliform macular dystrophy Orphanet:99000|UMLS:C1842914|OMIM:608161 owl:Class UBERON:0015281 biolink:NamedThing pancreas right lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019190 biolink:NamedThing juvenile polyposis of infancy Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life. tmpaxzxjjyw_mondo_relaxed.owl infantile juvenile polyposis syndrome|infantile onset juvenile polyposis syndrome|juvenile polyposis syndrome of infancy Orphanet:79076|OMIM:612242|UMLS:CN205768|ICD10:D12.6 owl:Class HGNC:10313 biolink:NamedThing RPL21 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:48873 biolink:NamedThing cholinergic antagonist Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists. tmpaxzxjjyw_mondo_relaxed.owl acetylcholine receptor antagonist|Anticholinergika|anticholinergic agents|anticholinergics|agent anticholinergique|cholinergic-blocking agents|acetylcholine antagonists|anticolinergicos|agente anticolinergico|Anticholinergikum|agentes anticolinergicos|anticholinergiques owl:Class UBERON:0014719 biolink:NamedThing intralobular duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013375 biolink:NamedThing Klippel-Feil syndrome 3, autosomal dominant Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene. tmpaxzxjjyw_mondo_relaxed.owl KFS3|Klippel-FEIL syndrome 3, autosomal dominant|Klippel-Feil syndrome 3, autosomal dominant|GDF3 isolated Klippel-Feil syndrome|isolated Klippel-Feil syndrome caused by mutation in GDF3 OMIM:613702|DOID:0080591|UMLS:C3150967|Orphanet:2345 owl:Class CHEBI:50629 biolink:NamedThing cyclooxygenase 2 inhibitor A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 2. tmpaxzxjjyw_mondo_relaxed.owl cyclooxygenase-2 inhibitor|cyclooxygenase 2 inhibitors|cyclo-oxygenase 2 inhibitors|COX-2 inhibitors|cyclooxygenase-2 inhibitors|prostaglandin-endoperoxide synthase 2 inhibitors|prostaglandin-endoperoxide synthase 2 inhibitor|COX-2 inhibitor|PGHS-2 inhibitor|PGHS-2 inhibitors|prostaglandin H synthase-2 inhibitors|cyclo-oxygenase 2 inhibitor|prostaglandin H synthase-2 inhibitor|cyclo-oxygenase-2 inhibitor|cyclo-oxygenase-2 inhibitors owl:Class MONDO:0020652 biolink:NamedThing immature teratoma of vulva tmpaxzxjjyw_mondo_relaxed.owl ONCOTREE:VIMT owl:Class GO:2000065 biolink:NamedThing negative regulation of cortisol biosynthetic process Any process that stops, prevents, or reduces the frequency, rate or extent of cortisol biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cortisol synthesis|negative regulation of cortisol biosynthesis|negative regulation of cortisol formation|negative regulation of cortisol anabolism owl:Class MONDO:0012937 biolink:NamedThing Diamond-Blackfan anemia 6 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene. tmpaxzxjjyw_mondo_relaxed.owl Aase-Smith syndrome 2|Diamond-Blackfan anemia 6|RPL5 Diamond-Blackfan anemia|Diamond-Blackfan Anemia type 6|Diamond-Blackfan anemia caused by mutation in RPL5|DBA6 Orphanet:124|UMLS:C0265265|OMIM:612561 owl:Class MONDO:0014178 biolink:NamedThing inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene. tmpaxzxjjyw_mondo_relaxed.owl multisystem Proteinopathy 2|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2|HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia|inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 2|inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1|IBMPFD2 OMIM:615422|UMLS:C3809468|DOID:0111384|Orphanet:52430 owl:Class HGNC:5033 biolink:NamedThing HNRNPA2B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015015 biolink:NamedThing congenital bile acid synthesis defect 6 Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene. tmpaxzxjjyw_mondo_relaxed.owl congenital bile acid synthesis defect caused by mutation in ACOX2|bile acid synthesis defect, congenital, 6|ACOX2 congenital bile acid synthesis defect|congenital bile acid synthesis defect type 6|CBAS6|bile acid synthesis defect, congenital, type 6 DOID:0111067|OMIM:617308|UMLS:C4310624 owl:Class HGNC:120 biolink:NamedThing ACOX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001682 biolink:NamedThing air mass An object which is composed of a continuous mass of air. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013878 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene. tmpaxzxjjyw_mondo_relaxed.owl TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1|pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 1|PFBMFT1 UMLS:C3553617|EFO:1001501|Orphanet:88|OMIM:614742 owl:Class MONDO:0007093 biolink:NamedThing hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene. tmpaxzxjjyw_mondo_relaxed.owl amelogenesis imperfecta type 4|amelogenesis imperfecta, type IV|amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism|AI4|amelogenesis imperfecta, type 4|amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism|AIHHT|amelogenesis imperfecta caused by mutation in DLX3|DLX3 amelogenesis imperfecta UMLS:C1863012|DOID:0110053|MESH:C566293|ICD10:K00.5|Orphanet:100034|OMIM:104510 owl:Class HGNC:2916 biolink:NamedThing DLX3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16187 biolink:NamedThing SLC52A3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013392 biolink:NamedThing autosomal recessive spinocerebellar ataxia 10 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene. tmpaxzxjjyw_mondo_relaxed.owl SCAR10|autosomal recessive spinocerebellar ataxia type 10|spinocerebellar ataxia, autosomal recessive type 10|spinocerebellar ataxia, autosomal recessive 10|autosomal recessive cerebellar ataxia caused by mutation in ANO10|ANO10 autosomal recessive cerebellar ataxia|adult-onset autosomal recessive cerebellar ataxia OMIM:613728|Orphanet:284289|UMLS:C3150998|DOID:0050999|ICD10:G11.2 owl:Class HGNC:25519 biolink:NamedThing ANO10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004555 biolink:NamedThing alpha,alpha-trehalase activity Catalysis of the reaction: alpha,alpha-trehalose + H2O = 2 D-glucose. tmpaxzxjjyw_mondo_relaxed.owl alpha,alpha-trehalose glucohydrolase activity owl:Class UBERON:0004068 biolink:NamedThing medial nasal prominence tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:00001854 biolink:NamedThing fish food product analog tmpaxzxjjyw_mondo_relaxed.owl owl:Class N4711a41542ac4413ab8a8bcc272e2fe4 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:2216 biolink:NamedThing COL8A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001086 biolink:NamedThing formation of a solid aerosol in an atmosphere A process during which an aerosol, consisting of solid particulates suspended in a gas, is formed in an atmosphere. tmpaxzxjjyw_mondo_relaxed.owl formation of solid particles in an atmosphere owl:Class UBERON:0007135 biolink:NamedThing neural keel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016516 biolink:NamedThing lamina propria of prostatic urethra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007851 biolink:NamedThing keratoconus 1 Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene. tmpaxzxjjyw_mondo_relaxed.owl keratoconus type 1|keratoconus 1|keratoconus (disease) caused by mutation in VSX1|KTCN1|VSX1 keratoconus (disease) MESH:C563649|OMIM:148300|UMLS:C1835677 owl:Class CHEBI:77307 biolink:NamedThing cardioprotective agent Any protective agent that is able to prevent damage to the heart. tmpaxzxjjyw_mondo_relaxed.owl cardioprotective agents owl:Class ENVO:01000951 biolink:NamedThing natural environment An environmental system in which minimal to no anthropisation has occurred and non-human agents are the primary determinants of the system's dynamics and composition. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9922 biolink:NamedThing RBP4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9154 biolink:NamedThing PNKP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012476 biolink:NamedThing hereditary spastic paraplegia 30 Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy. tmpaxzxjjyw_mondo_relaxed.owl hereditary spastic paraplegia type 30|SPG30|KIF1A hereditary spastic paraplegia|autosomal recessive spastic paraplegia 30|spastic paraplegia 30, autosomal recessive|hereditary spastic paraplegia caused by mutation in KIF1A|autosomal spastic paraplegia type 30 DOID:0110781|SCTID:763377006|ICD10:G11.4|OMIM:610357|Orphanet:101010|MESH:C563677|UMLS:C1835896 owl:Class HGNC:8965 biolink:NamedThing PIGK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000230 biolink:NamedThing Israeli tick typhus An infectious disease caused by infection with rickettsia conorii subsp. israelensis. tmpaxzxjjyw_mondo_relaxed.owl Israeli spotted fever DOID:0050043 owl:Class CHEBI:63473 biolink:NamedThing aromatic amino-acid anion An aromatic amino acid whose alpha-carboxylic acid group is ionized (non-protonated). tmpaxzxjjyw_mondo_relaxed.owl aromatic amino-acid anions owl:Class GO:0042754 biolink:NamedThing negative regulation of circadian rhythm Any process that stops, prevents, or reduces the frequency, rate or extent of a circadian rhythm behavior. tmpaxzxjjyw_mondo_relaxed.owl down regulation of circadian rhythm|downregulation of circadian rhythm|inhibition of circadian rhythm|down-regulation of circadian rhythm owl:Class HGNC:4685 biolink:NamedThing GUCY1A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014159 biolink:NamedThing autosomal recessive spinocerebellar ataxia 14 Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement). tmpaxzxjjyw_mondo_relaxed.owl spectrin-associated autosomal recessive cerebellar ataxia|autosomal recessive spinocerebellar ataxia type 14|infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|SCAR14|SPTBN2 autosomal recessive cerebellar ataxia|spectrin-associated autosomal recessive cerebellar ataxia type 1|SPARCA1|autosomal recessive cerebellar ataxia-cognitive defect syndrome|spinocerebellar ataxia, autosomal recessive type 14|Ataxie spinocérébelleuse à début infantile avec retard psychomoteur|spinocerebellar ataxia, autosomal recessive 14|SPARCA|autosomal recessive cerebellar ataxia caused by mutation in SPTBN2|cerebellar ataxia, autosomal recessive, spectrin-associated, 1 DOID:0080058|SCTID:763351003|UMLS:C3809327|ICD10:G11.1|Orphanet:352403|OMIM:615386 owl:Class UBERON:0005234 biolink:NamedThing optic eminence ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008813 biolink:NamedThing arachnoid cyst Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with hydrocephalus; headache; seizures; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115) tmpaxzxjjyw_mondo_relaxed.owl arachnoid cysts GARD:0000017|ICD10:G93.0|OMIM:182990|UMLS:C0078981|Orphanet:2356|MESH:D016080|NCIT:C3455|MedDRA:10049005|SCTID:33595009 https://rarediseases.info.nih.gov/diseases/17/arachnoid-cysts owl:Class MONDO:0002192 biolink:NamedThing vulvar angiokeratoma An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis. tmpaxzxjjyw_mondo_relaxed.owl mammalian vulva angiokeratoma|angiokeratoma of mammalian vulva|angiokeratoma of Fordyce of mammalian vulva|mammalian vulva angiokeratoma of Fordyce UMLS:C1274281|NCIT:C8596|SCTID:402841001|DOID:2066 owl:Class HGNC:23503 biolink:NamedThing SLITRK6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014029 biolink:NamedThing osteogenesis imperfecta type 14 Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene. tmpaxzxjjyw_mondo_relaxed.owl TMEM38B osteogenesis imperfecta|OI14|osteogenesis imperfecta caused by mutation in TMEM38B|osteogenesis imperfecta, type XIV|OI, type 14|osteogenesis imperfecta type XIV|osteogenesis imperfecta, type 14 ICD10:Q78.0|Orphanet:216820|Orphanet:666|UMLS:C3554428|OMIM:615066|DOID:0110343 owl:Class NCBITaxon:747 biolink:NamedThing Pasteurella multocida tmpaxzxjjyw_mondo_relaxed.owl Bacterium multocidum|Pasteurella gallicida|Micrococcus gallicidus|Pasteurella cholerae-gallinarum GC_ID:11|PMID:15184562 ncbi_taxonomy owl:Class OBO:CHR_9606-chr12q biolink:NamedThing 12q (Human) tmpaxzxjjyw_mondo_relaxed.owl 133275309 35500000 hg38 owl:Class MONDO:0009388 biolink:NamedThing hyperlysinemia Hyperlysinaemia is a lysine metabolism disorder characterised by elevated levels of lysine in the cerebrospinal fluid and blood. Variable degrees of saccharopinuria are also present. tmpaxzxjjyw_mondo_relaxed.owl L-lysine:NAD-oxido-reductase deficiency|L-lysine NAD-oxido-reductase deficiency|lysine alpha-ketoglutarate reductase deficiency|hyperlysinemia, type I|hyperlysinemia (disease)|hyperlysinemia, type 1|lysine intolerance|lysine:Alpha-ketoglutarate reductase deficiency|Alpha-aminoadipic semialdehyde synthase deficiency|hyperlysinemia type I|hyperlysinemia hyperlysinemia (disease) SCTID:58558003|GARD:0002828|UMLS:C0268553|ICD9:270.7|NCIT:C123433|HP:0002161|OMIM:238710|OMIM:238700|ICD10:E72.3|Orphanet:2203|DOID:9274 owl:Class CL:2000043 biolink:NamedThing brain pericyte Any pericyte cell that is part of a brain. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-07-09T00:18:22Z cell owl:Class MONDO:0009657 biolink:NamedThing Sanfilippo syndrome type C A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays. tmpaxzxjjyw_mondo_relaxed.owl mucopolysaccharidosis, type 3C|mucopolysaccharidosis type IIIC|MPS IIIC|MPSIIIC|Sanfilippo syndrome type C|Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency|MPS 3C|HGSNAT deficiency|MPS III C|acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency|MPS3C|Sanfilippo syndrome C|heparan-alpha-glucosaminide N-acetyltransferase deficiency|Mucopoly-saccharidosis type 3C|Sanfilippo C|mucopolysaccharidosis, type IIIC|mucopolysaccharidosis type 3C SCTID:75238000|DOID:0111393|NCIT:C84899|UMLS:C0086649|GARD:0007073|Orphanet:79271|Orphanet:581|ICD10:E76.2|OMIM:252930 owl:Class UBERON:0007306 biolink:NamedThing pronephric glomerular capillary tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:29461 biolink:NamedThing Brucella suis tmpaxzxjjyw_mondo_relaxed.owl Brucella melitensis bv. Suis|Brucella melitensis biovar Suis GC_ID:11 ncbi_taxonomy owl:Class HGNC:2649 biolink:NamedThing CYP51A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008822 biolink:NamedThing posterior mediastinum tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:OBA_1001084 biolink:NamedThing feces osmolality The osmolality of a feces. tmpaxzxjjyw_mondo_relaxed.owl osmolality of feces owl:Class GO:0055123 biolink:NamedThing digestive system development The process whose specific outcome is the progression of the digestive system over time, from its formation to the mature structure. The digestive system is the entire structure in which digestion takes place. Digestion is all of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8592 biolink:NamedThing PAK3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011708 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 36 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness caused by mutation in TMC1|TMC1 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 36|autosomal dominant nonsyndromic deafness 36|autosomal dominant deafness 36|DFNA36|deafness, autosomal dominant type 36|deafness, autosomal dominant 36 OMIM:606705|ICD10:H90.3|UMLS:C1847626|MESH:C564675|DOID:0110563 owl:Class MONDO:0013627 biolink:NamedThing 3M syndrome 3 Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene. tmpaxzxjjyw_mondo_relaxed.owl CCDC8 3-M syndrome|3-M syndrome caused by mutation in CCDC8|three M syndrome 3|three M syndrome type 3|3M syndrome 3|3M3 UMLS:C3280146|Orphanet:2616|OMIM:614205 owl:Class HGNC:25367 biolink:NamedThing CCDC8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013032 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 8 Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene. tmpaxzxjjyw_mondo_relaxed.owl CASR generalised epilepsy|generalised epilepsy caused by mutation in CASR|susceptibility to idiopathic generalized epilepsy 8|epilepsy, idiopathic generalized, susceptibility to, type 8|epilepsy, idiopathic generalized, susceptibility to, 8|EIG8 DOID:0111322|OMIM:612899 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class NCBITaxon:65647 biolink:NamedThing Ixodes holocyclus tmpaxzxjjyw_mondo_relaxed.owl paralysis tick GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020510 biolink:NamedThing idiopathic syringomyelia Idiopathic syringomyelia is a rare, non-syndromic central nervous system malformation characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiably cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G95.0|UMLS:C4511700|SCTID:725001004|Orphanet:99858 owl:Class UBERON:0004530 biolink:NamedThing bony projection tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004810 biolink:NamedThing acute ethmoiditis Acute form of ethmoid sinusitis. tmpaxzxjjyw_mondo_relaxed.owl ethmoidal sinus - acute|acute ethmoidal sinusitis|ethmoid sinusitis, acute|acute ethmoid sinusitis ICD10:J01.20|DOID:9506|SCTID:67832005|ICD9:461.2|ICD10:J01.2|UMLS:C0155806 owl:Class GO:0061061 biolink:NamedThing muscle structure development The progression of a muscle structure over time, from its formation to its mature state. Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011938 biolink:NamedThing atrial septal defect 2 Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene. tmpaxzxjjyw_mondo_relaxed.owl atrial septal defect 2|atrial septal defect type 2|atrial heart septal defect caused by mutation in GATA4|ASD2|atrial heart septal defect type 2|GATA4 atrial heart septal defect MESH:C538263|UMLS:C1842778|DOID:0110107|ICD10:Q21.1|OMIM:607941|Orphanet:1478 owl:Class UBERON:0036267 biolink:NamedThing vulval vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007548 biolink:NamedThing transient bullous dermolysis of the newborn Transient bullous dermolysis of the newborn is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by generalized blistering at birth that usually regresses within the first 6 to 24 months of life. tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa dystrophica, neonatal form|epidermolysis bullosa dystrophica, dominant neonatal form|dystrophic epidermolysis bullosa, neonatal|TBDN|MONDON|transient bullous dermolysis of the newborn|DEB, bullous dermolysis of the newborn|DEB-BDN OMIM:131705|Orphanet:79411|MESH:C536979|DOID:0111345|GARD:0010010|UMLS:C1851573|ICD10:Q81.2 https://rarediseases.info.nih.gov/diseases/10010/transient-bullous-dermolysis-of-the-newborn owl:Class HGNC:11811 biolink:NamedThing KLF11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011501 biolink:NamedThing wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. tmpaxzxjjyw_mondo_relaxed.owl cortical defects, WORMIAN bones, and dentinogenesis imperfecta|Suarez-Stickler syndrome|cortical defects wormian bones and dentinogenesis imperfecta OMIM:604922|MESH:C565734|GARD:0010290|ICD10:Q78.8|Orphanet:166277|UMLS:C1858032 https://rarediseases.info.nih.gov/diseases/10290/cortical-defects-wormian-bones-and-dentinogenesis-imperfecta owl:Class MONDO:0009088 biolink:NamedThing deafness, neural, with atypical atopic dermatitis tmpaxzxjjyw_mondo_relaxed.owl deafness, neural, with atypical atopic dermatitis UMLS:C1857334|OMIM:221700|MESH:C565639 owl:Class MONDO:0002438 biolink:NamedThing acquired polycythemia An instance of polycythemia that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired polycythemia|acquired polycythemia (disease)|polycythemia, secondary ICD10:D75.1|UMLS:C1318533|NCIT:C27178|DOID:2834|ICD9:289.0 owl:Class HP:0002970 biolink:NamedThing Genu varum A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. tmpaxzxjjyw_mondo_relaxed.owl Outward bow-leggedness|Genu vara|Genua vara|Outward bowing at knees UMLS:C0544755|SNOMEDCT_US:299331007|MSH:D056305 HP:0003052 human_phenotype owl:Class MONDO:0024302 biolink:NamedThing internal hirudiniasis A condition resulting from accidental ingestion of leeches in drinking water. They may attach themselves to the wall of the pharynx, nasal cavity, or larynx. tmpaxzxjjyw_mondo_relaxed.owl SCTID:187227006|UMLS:C0348999|ICD10:B83.4 owl:Class NCBITaxon:573 biolink:NamedThing Klebsiella pneumoniae tmpaxzxjjyw_mondo_relaxed.owl 'Klebsiella aerogenes' (Kruse) Taylor et al. 1956|Hyalococcus pneumoniae|Bacterium pneumoniae crouposae|Bacillus pneumoniae|Klebsiella pneumoniae aerogenes PMID:11411715|PMID:1581186|GC_ID:11 NCBITaxon:585494|NCBITaxon:1795825|NCBITaxon:1096019|NCBITaxon:875801|NCBITaxon:692338|NCBITaxon:1673140 ncbi_taxonomy owl:Class GO:0001667 biolink:NamedThing ameboidal-type cell migration Cell migration that is accomplished by extension and retraction of a pseudopodium. tmpaxzxjjyw_mondo_relaxed.owl amoeboidal cell migration|ameboid cell migration|amoeboid cell migration owl:Class MONDO:0011776 biolink:NamedThing CINCA syndrome Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs. tmpaxzxjjyw_mondo_relaxed.owl infantile onset multisystem inflammatory disease|chronic infantile neurological cutaneous articular syndrome|CINCA|chronic infantile neurological cutaneous and articular syndrome|chronic neurologic cutaneous and articular syndrome|multisystem inflammatory disease, neonatal-onset|neonatal-onset multisystem inflammatory disease|neonatal onset multisystem inflammatory disease|IOMID syndrome|CINCA/NOMID|Prieur Griscelli syndrome|Prieur-Griscelli syndrome|Cryopyrin-associated periodic syndrome 3|CINCA syndrome|infantile-onset multisystem inflammatory disease|NOMID syndrome|IOMID|cryopyrin-associated periodic syndrome 3|NOMID SCTID:239826001|NCIT:C116380|Orphanet:1451|DOID:0090029|OMIM:607115|ICD9:759.89|ICD10:E85.0|GARD:0001356 owl:Class MONDO:0011480 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 20 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene. tmpaxzxjjyw_mondo_relaxed.owl DFNA20|deafness, autosomal dominant 20|ACTG1 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness 20|autosomal dominant deafness 20|deafness, autosomal dominant type 20|DFNA26|autosomal dominant nonsyndromic deafness caused by mutation in ACTG1|autosomal dominant nonsyndromic deafness type 20 DOID:0110550|UMLS:C1858172|ICD10:H90.3|Orphanet:90635|MESH:C565754|OMIM:604717 owl:Class HGNC:144 biolink:NamedThing ACTG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017322 biolink:NamedThing disorders of vitamin D metabolism tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202954|Orphanet:289098 owl:Class MONDO:0018315 biolink:NamedThing X-linked osteoporosis with fractures tmpaxzxjjyw_mondo_relaxed.owl Orphanet:391330|ICD10:M80.5 owl:Class MONDO:0008582 biolink:NamedThing tooth and nail syndrome Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia. tmpaxzxjjyw_mondo_relaxed.owl dysplasia of nails with hypodontia|HND|tooth and nail syndrome|WITKOP syndrome|ectodermal dysplasia 3, Tooth/nail type|hypodontia-nail dysgenesis syndrome|TNS|nail dysplasia with hypodontia|Witkop syndrome|hypodontia-nail dysplasia|hypodontia - dysplasia of nails|hypodontia-dysplasia of nails syndrome|tooth-and-nail syndrome|hypoplastic enamel-onycholysis-hypohidrosis syndrome|hypodontia with nail dysplasia|Witkop's syndrome|ectodermal dysplasia 3, Witkop type|hypodontia and nail dysplasia SCTID:400036004|NCIT:C40553|OMIM:189500|MESH:C536736|UMLS:C0406735|ICD10:Q82.4|Orphanet:2228|GARD:0005587|DOID:6678 owl:Class HP:0000668 biolink:NamedThing Hypodontia The absence of five or less teeth from the normal series by a failure to develop. tmpaxzxjjyw_mondo_relaxed.owl Failure of development of between one and six teeth|Missing between one and six teeth SNOMEDCT_US:64969001|MSH:D000848|UMLS:C0020608 Hypodontia needs to be confirmed by X-rays. The terms hypodontia and oligodontia have been used interchangeably in literature but these define two different clinical entities. Hypodontia has been used to define exclusively the absence of permanent teeth and excluding third molars, but the absence of any deciduous and permanent teeth, including third molars, should be called hypodontia as well. human_phenotype owl:Class UBERON:0005130 biolink:NamedThing metanephric loop of Henle tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000958 biolink:NamedThing T1 B cell A transitional stage B cell that migrates from the bone marrow into the peripheral circulation, and finally to the spleen. This cell type has the phenotype surface IgM-positive, surface IgD-negative, CD21-negative, CD23-negative, and CD62L-negative, and CD93-positive. This cell type has also been described as IgM-high, CD19-positive, B220-positive, AA4-positive, and CD23-negative. tmpaxzxjjyw_mondo_relaxed.owl T1 B-lymphocyte|T1 B lymphocyte|transitional stage 1 B cell|T1 B-cell T1 B cells are also reportedly CD10-negative/positive??, CD20-positive, CD24-positive, CD38-positive, CD48-positive, CD84-positive, CD150-positive, CD244-negative, and CD352-positive. cell owl:Class MONDO:0011805 biolink:NamedThing asthma-related traits, susceptibility to, 1 Any inherited susceptibility to asthma in which the cause of the disease is a mutation in the PTGDR gene. tmpaxzxjjyw_mondo_relaxed.owl inherited susceptibility to asthma caused by mutation in PTGDR|asthma-related traits, susceptibility to, type 1|AS1|ASRT1|PTGDR inherited susceptibility to asthma|asthma-related traits, susceptibility to, 1 UMLS:C1846534|OMIM:607277 owl:Class HGNC:3974 biolink:NamedThing FTCD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019084 biolink:NamedThing radiation proctitis Radiation proctitis is a rare rectal disease directly induced by pelvic radiotherapy and characterized by rectal bleeding, change in bowel habits, tenesmus and sepsis. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10037766|ICD9:569.49|SCTID:235760009|ICD10:K62.7|Orphanet:70475 owl:Class MONDO:0012981 biolink:NamedThing hereditary spherocytosis type 4 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary spherocytosis caused by mutation in SLC4A1|SPH4|spherocytosis, hereditary, 4|spherocytosis, type 4|SLC4A1 hereditary spherocytosis|HS4|hereditary spherocytosis 4 MESH:C567208|UMLS:C2675212|OMIM:612653|DOID:0110919|Orphanet:822 owl:Class HGNC:2148 biolink:NamedThing CNGA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001219 biolink:NamedThing ileocolic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000133 biolink:NamedThing 39-year-old human stage Adult stage that refers to an adult who is over 39 and under 40. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000042 biolink:NamedThing forebrain neuroblast tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002482 biolink:NamedThing dermal melanocyte A melanocyte that produces pigment in the dermis. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-12-03T03:17:05Z cell owl:Class CL:0002547 biolink:NamedThing fibroblast of the aortic adventitia A fibroblast of the aortic adventitia. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-02-28T04:43:41Z cell owl:Class FOODON:03400267 biolink:NamedThing seafood or seafood product (us cfr) Flesh from fish or shellfish. Includes seafood product analogs and seafood-based sausage or luncheon meat as well as such products as squid ink and clam juice. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0267 http://langual.org owl:Class MONDO:0021553 biolink:NamedThing transverse myelitis tmpaxzxjjyw_mondo_relaxed.owl Transverse myelopathy syndrome|Transverse Myelopathy Syndromes|transverse myelitis|Transverse myelitis|Transverse Myelopathy Syndrome|Transverse Myelitis|transverse myelopathy syndrome|Myelitis, Transverse ICD9:323.9|SCTID:16631009|UMLS:C0026976|GARD:0007796 owl:Class HGNC:3415 biolink:NamedThing EPO tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr15q13.3 biolink:NamedThing 15q13.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl 33400000 30900000 hg38 owl:Class HGNC:37212 biolink:NamedThing KLLN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032619 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 14 tmpaxzxjjyw_mondo_relaxed.owl MC1DN14|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 OMIM:618236 owl:Class CL:0002540 biolink:NamedThing mesenchymal stem cell of the bone marrow A mesenchymal stem cell that is part of the bone marrow. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-02-28T01:47:47Z cell owl:Class UBERON:0036523 biolink:NamedThing wall of vagina tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002480 biolink:NamedThing nasal mucosa goblet cell A goblet cell located in the nasal epithelium. tmpaxzxjjyw_mondo_relaxed.owl MP:0002262 tmeehan 2010-12-03T03:03:02Z cell owl:Class HP:0002204 biolink:NamedThing Pulmonary embolism An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. tmpaxzxjjyw_mondo_relaxed.owl Blood clot in artery of lung MSH:D011655|SNOMEDCT_US:59282003|UMLS:C0034065 human_phenotype owl:Class MONDO:0014724 biolink:NamedThing Joubert syndrome 24 Any Joubert syndrome in which the cause of the disease is a mutation in the TCTN2 gene. tmpaxzxjjyw_mondo_relaxed.owl JBTS24|Joubert syndrome caused by mutation in TCTN2|Joubert syndrome type 24|TCTN2 Joubert syndrome|Joubert syndrome 24 UMLS:C4084841|DOID:0110993|OMIM:616654 owl:Class GO:0002349 biolink:NamedThing histamine production involved in inflammatory response The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. tmpaxzxjjyw_mondo_relaxed.owl histamine production involved in acute inflammatory response owl:Class GO:0006006 biolink:NamedThing glucose metabolic process The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. tmpaxzxjjyw_mondo_relaxed.owl glucose metabolism|cellular glucose metabolic process owl:Class PATO:0000627 biolink:NamedThing localized A spatial pattern quality inhering in a bearer by virtue of the bearer's being confined or restricted to a particular location. tmpaxzxjjyw_mondo_relaxed.owl focal|localised owl:Class MONDO:0011308 biolink:NamedThing GRACILE syndrome GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E). tmpaxzxjjyw_mondo_relaxed.owl lactic acidosis, Finnish, with hepatic hemosiderosis|gracile syndrome|Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death|Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death|Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|Fellman syndrome|Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome|FLNMS|Finnish lethal neonatal metabolic syndrome|Finnish lactic acidosis with hepatic hemosiderosis|Fellman disease OMIM:603358|SCTID:703388005|UMLS:C1864002|Orphanet:53693|ICD9:759.89|MESH:C537934|GARD:0000001|DOID:0111455|ICD10:E88.8 owl:Class HGNC:1020 biolink:NamedThing BCS1L tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35338 biolink:NamedThing amphetamines Amines that constitute a class of central nervous system stimulants based on the structure of the parent amphetamine 1-phenylpropan-2-amine. tmpaxzxjjyw_mondo_relaxed.owl amphetamine drug owl:Class HGNC:2417 biolink:NamedThing CRYGS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012464 biolink:NamedThing cone-rod dystrophy 10 Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene. tmpaxzxjjyw_mondo_relaxed.owl CORD10|SEMA4A cone-rod dystrophy|cone-rod dystrophy 10|cone-rod dystrophy type 10|cone-rod dystrophy caused by mutation in SEMA4A DOID:0111017|OMIM:610283|MESH:C564597|Orphanet:1872|UMLS:C1846529 owl:Class MONDO:0015018 biolink:NamedThing ichthyosis, congenital, autosomal recessive 12 Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the CASP14 gene. tmpaxzxjjyw_mondo_relaxed.owl ARCI12|ichthyosis, congenital, autosomal recessive type 12|ichthyosis, congenital, autosomal recessive 12; ARCI12|ichthyosis, congenital, autosomal recessive 12 OMIM:617320|UMLS:C4310621 owl:Class MONDO:0001837 biolink:NamedThing acute gonococcal salpingitis Acute form of gonococcal salpingitis. tmpaxzxjjyw_mondo_relaxed.owl gonococcal salpingitis, acute|gonococcal salpingitis, specified as acute DOID:13942|ICD9:098.17|UMLS:C0275654|SCTID:45377007 owl:Class HGNC:7631 biolink:NamedThing NAGA tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001004 biolink:NamedThing Lymphedema Localized fluid retention and tissue swelling caused by a compromised lymphatic system. tmpaxzxjjyw_mondo_relaxed.owl Lymphatic obstruction|Swelling caused by excess lymph fluid under skin|Onset of lymphedema around puberty|Lymphoedema SNOMEDCT_US:234097001|UMLS:C0024236|MSH:D008209|UMLS:C0240278|SNOMEDCT_US:30213001|UMLS:C1835229 HP:0003605 human_phenotype owl:Class MONDO:0014758 biolink:NamedThing radioulnar synostosis with amegakaryocytic thrombocytopenia 2 Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene. tmpaxzxjjyw_mondo_relaxed.owl radioulnar synostosis with amegakaryocytic thrombocytopenia 2|radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM|MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome|radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2|radioulnar synostosis with amegakaryocytic thrombocytopenia type 2|RUSAT2 UMLS:C4225221|OMIM:616738 https://github.com/monarch-initiative/mondo/issues/3952 owl:Class UBERON:0002809 biolink:NamedThing right temporal lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011974 biolink:NamedThing retinitis pigmentosa 7 A retinitis pigmentosa that has material basis in mutation in the PRPH2 gene on chromosome 6p21. tmpaxzxjjyw_mondo_relaxed.owl RP 7|retinitis pigmentosa type 7|RP7|retinitis pigmentosa 7, digenic|retinitis pigmentosa 7|Leber congenital amaurosis 18 GARD:0010386|OMIM:608133|ICD10:H35.5|Orphanet:791|UMLS:C1842475|DOID:0110383 https://rarediseases.info.nih.gov/diseases/10386/retinitis-pigmentosa-7 owl:Class CL:1001582 biolink:NamedThing lateral ventricle neuron Neuron of lateral ventricle. tmpaxzxjjyw_mondo_relaxed.owl lateral ventricle neuronal cell|lateral ventricle neural cell|lateral ventricle neuronal cells CALOHA:TS-1261 owl:Class HGNC:1068 biolink:NamedThing BMP15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000454 biolink:NamedThing epinephrine secreting cell A cell capable of producing epinephrine. Epiniphrine is synthesized from norepiniphrine by the actions of the phenylethanolamine N-methyltransferase enzyme, which is expressed in the adrenal glands, androgenic neurons, and in other cell types. tmpaxzxjjyw_mondo_relaxed.owl adrenaline secreting cell|epinephrin secreting cell cell owl:Class MONDO:0004464 biolink:NamedThing nephrogenic adenoma of the urethra A metaplastic lesion of the urothelium found in the urethra. It is characterized by the presence of aggregates of cuboidal or hobnail cells and represents a reaction of the urothelium to injury caused by instrumentation, surgery or calculi. tmpaxzxjjyw_mondo_relaxed.owl urethral nephrogenic adenoma|urethra nephrogenic adenoma|nephrogenic adenoma of urethra NCIT:C7416|DOID:8109|UMLS:C1336889 owl:Class MONDO:0013811 biolink:NamedThing combined oxidative phosphorylation defect type 9 Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. tmpaxzxjjyw_mondo_relaxed.owl MRPL3 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 9|combined oxidative phosphorylation deficiency caused by mutation in MRPL3|combined oxidative phosphorylation deficiency type 9|COXPD9 ICD10:I42.2|DOID:0111472|SCTID:763209008|Orphanet:319509|OMIM:614582|UMLS:C3281234 owl:Class HGNC:10379 biolink:NamedThing MRPL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CP_0000043 biolink:NamedThing cartwheel heterochromatin Heterochromatin that is arranged in a carthwheel pattern. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2009-12-28T04:28:35Z cell owl:Class MONDO:0001701 biolink:NamedThing gastrointestinal anthrax An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has material basis in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. tmpaxzxjjyw_mondo_relaxed.owl ICD9:022.2|ICD10:A22.2|UMLS:C0152945|SCTID:111798006|MESH:C571911|DOID:13386 owl:Class OBO:CHR_9606-chr2p13 biolink:NamedThing 2p13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 74800000 68400000 hg38 owl:Class ENVO:01001814 biolink:NamedThing organic object An object which is formed as a result of one or more biological processes and is composed primarily of organic material. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0003659 biolink:NamedThing pedal digit muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008256 biolink:NamedThing left clavicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000305 biolink:NamedThing high temperature environment A high temperature environment is an environment in which material entities are exposed to increased levels of heat radiation or which have molecules or atoms moving randomly with increased levels of average kinietic energy. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008329 biolink:NamedThing autosomal dominant pseudohypoaldosteronism type 1 Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney. tmpaxzxjjyw_mondo_relaxed.owl pseudohypoaldosteronism type 1 autosomal dominant|pseudohypoaldosteronism, type I, autosomal dominant|renal PHA1|PHA I, autosomal dominant|renal pseudohypoaldosteronism type 1|pseudohypoaldosteronism type 1, dominant|autosomal dominant pseudohypoaldosteronism type 1|autosomal dominant PHA 1|PHA1A Orphanet:171871|NCIT:C126810|ICD10:N25.8|DOID:0060855|Orphanet:756|MESH:D011546|OMIM:177735|UMLS:C1449842|GARD:0009145 https://rarediseases.info.nih.gov/diseases/9145/autosomal-dominant-pseudohypoaldosteronism-type-1 owl:Class ENVO:01001068 biolink:NamedThing meteoroid An astronomical body which is composed of rocky or metallic materials and is considerably smaller than asteroids. tmpaxzxjjyw_mondo_relaxed.owl owl:Class N1564bdf281624cd2b8d934b78bb9317b biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0012168 biolink:NamedThing umbilical cord blood tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr22q13 biolink:NamedThing 22q13 (Human) tmpaxzxjjyw_mondo_relaxed.owl 50818468 37200000 hg38 owl:Class NCBITaxon:574145 biolink:NamedThing Demodex brevis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012861 biolink:NamedThing premature ovarian failure 6 Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene. tmpaxzxjjyw_mondo_relaxed.owl FIGLA primary ovarian failure|primary ovarian failure caused by mutation in FIGLA|premature ovarian failure type 6|Pof6|premature ovarian failure 6 UMLS:C2676742|MESH:C567351|OMIM:612310 owl:Class HGNC:24669 biolink:NamedThing FIGLA tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17759 biolink:NamedThing PDSS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001051 biolink:NamedThing Seborrheic dermatitis Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. tmpaxzxjjyw_mondo_relaxed.owl Seborrhea|Seborrheic eczema|Dysseborrheic dermatitis UMLS:C0036508|MSH:D012628|SNOMEDCT_US:86708008|UMLS:C3806554|SNOMEDCT_US:50563003 Dandruff. HP:0007562 human_phenotype owl:Class HGNC:15597 biolink:NamedThing HPS3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014584 biolink:NamedThing congenital myasthenic syndrome 3B A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. tmpaxzxjjyw_mondo_relaxed.owl CMS3B|myasthenic syndrome, congenital, 3B, FAST-channel|congenital myasthenic syndrome 3B, fast-channel|congenital myasthenic syndrome type 3B UMLS:C4225371|Orphanet:98913|OMIM:616322|Orphanet:590|DOID:0110665 owl:Class ENVO:01001299 biolink:NamedThing atmospheric zone An environmental zone which is part of an atmosphere. tmpaxzxjjyw_mondo_relaxed.owl atmospheric area owl:Class MONDO:0007068 biolink:NamedThing adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features. tmpaxzxjjyw_mondo_relaxed.owl inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|Adsl deficiency|ADSL deficiency|rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|adenylosuccinate lyase deficiency|adenylosuccinase deficiency|inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder|ADSLD|adenylosuccinase lyase deficiency UMLS:C0268126|GARD:0000550|ICD9:277.2|Orphanet:46|SCTID:15285008|ICD10:E79.8|OMIM:103050|DOID:0050762|MESH:C538235 owl:Class CHEBI:50266 biolink:NamedThing prodrug A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug. tmpaxzxjjyw_mondo_relaxed.owl Prodrugs owl:Class UBERON:0007285 biolink:NamedThing presumptive paraxial mesoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001410 biolink:NamedThing striated A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011565 biolink:NamedThing lumen of gastrointestinal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002103 biolink:NamedThing IgG-positive double negative memory B cell An IgG-positive double negative memory B cell is a double negative memory B cell with the phenotype IgG-positive, IgD-negative, and CD27-negative. tmpaxzxjjyw_mondo_relaxed.owl IgG+ double negative memory B lymphocyte|IgG-positive double negative memory B-cell|IgG-positive dn memory B-cell|IgG-positive dn memory B-lymphocyte|IgG+ dn memory B lymphocyte|IgG+ dn memory B cell|IgG-positive double negative memory B lymphocyte|IgG+ double negative memory B-cell|IgG-positive dn memory B lymphocyte|IgG+ dn memory B-cell|IgG-positive dn memory B cell|IgG-positive double negative memory B-lymphocyte|IgG+ dn memory B-lymphocyte|IgG+ double negative memory B-lymphocyte|IgG+ double negative memory B cell cell owl:Class UBERON:0007173 biolink:NamedThing lateral border of scapula tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012918 biolink:NamedThing primary ciliary dyskinesia 10 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAAF2 gene. tmpaxzxjjyw_mondo_relaxed.owl CILD10|ciliary dyskinesia, primary, 10, with or without situs inversus|primary ciliary dyskinesia 10 with or without situs inversus|primary ciliary dyskinesia type 10|DNAAF2 primary ciliary dyskinesia|ciliary dyskinesia, primary, 10|ciliary dyskinesia, primary, type 10|primary ciliary dyskinesia caused by mutation in DNAAF2 MESH:C567287|OMIM:612518|DOID:0110612|UMLS:C2675867|ICD10:Q34.8 owl:Class HGNC:20188 biolink:NamedThing DNAAF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000321 biolink:NamedThing typhoidal tularemia A tularemia that results in bacteremia and has symptom fever, has symptom chills, has symptom myalgia, has symptom malaise, and has symptom weight loss. tmpaxzxjjyw_mondo_relaxed.owl SCTID:398554008|UMLS:C0473876|DOID:0050383 owl:Class HGNC:20439 biolink:NamedThing UPF3B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013511 biolink:NamedThing cyanosis, transient neonatal tmpaxzxjjyw_mondo_relaxed.owl TNCY|cyanosis, transient neonatal UMLS:C3151421|OMIM:613977|Orphanet:280615 owl:Class HGNC:16905 biolink:NamedThing KLHL41 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011996 biolink:NamedThing Elevated coagulation factor V activity Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. tmpaxzxjjyw_mondo_relaxed.owl Elevated factor V activity|Plasma factor V elevated UMLS:C4021106 peter 2012-07-19T11:40:31Z human_phenotype owl:Class HP:0001959 biolink:NamedThing Polydipsia Excessive thirst manifested by excessive fluid intake. tmpaxzxjjyw_mondo_relaxed.owl Extreme thirst MSH:D059606|UMLS:C0085602|SNOMEDCT_US:17173007|SNOMEDCT_US:267026004 human_phenotype owl:Class HP:0008734 biolink:NamedThing Decreased testicular size Reduced volume of the testicle (the male gonad). tmpaxzxjjyw_mondo_relaxed.owl Decreased testicular size|Testicular hypoplasia|Hypoplastic testes|Small testes|Small testis SNOMEDCT_US:276411001|UMLS:C0241355 HP:0000043 human_phenotype owl:Class UBERON:0001528 biolink:NamedThing radio-ulnar joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009354 biolink:NamedThing methylcobalamin deficiency type cblE An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia. tmpaxzxjjyw_mondo_relaxed.owl vitamin B12-responsive homocystinuria, cblE type|HMAE|homocystinuria-megaloblastic anemia, cblE complementation type|methylcobalamin deficiency, cblE type|homocystinuria due to defect in methylation Cbl e|homocystinuria-megaloblastic Anemia due to defect in cobalamin metabolism, cblE complementation type|methylmalonic aciduria and homocystinuria type cblE|methylcobalamin deficiency type cblE|functional methionine synthase deficiency type cblE DOID:0050732|NCIT:C142173|OMIM:236270|UMLS:C1856057|EFO:0005568|GARD:0002732|Orphanet:622|Orphanet:2169|ICD10:E72.1|MESH:C565510 owl:Class HGNC:8907 biolink:NamedThing PGM3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013737 biolink:NamedThing hereditary spastic paraplegia 46 A rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase. tmpaxzxjjyw_mondo_relaxed.owl SPG46|autosomal recessive spastic paraplegia type 46|spastic paraplegia 46, autosomal recessive|GBA2 autosomal recessive complex spastic paraplegia|autosomal recessive complex spastic paraplegia caused by mutation in GBA2|autosomal recessive spastic paraplegia 46|hereditary spastic paraplegia 46|hereditary spastic paraplegia type 46 OMIM:614409|ICD10:G11.4|DOID:0110798|UMLS:C4510081|Orphanet:320391|SCTID:723822009|UMLS:C2828721 owl:Class HGNC:18986 biolink:NamedThing GBA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042588 biolink:NamedThing zymogen granule A membrane-bounded, cytoplasmic secretory granule found in enzyme-secreting cells and visible by light microscopy. Contain zymogen, an inactive enzyme precursor, often of a digestive enzyme. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009658 biolink:NamedThing Sanfilippo syndrome type D A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays. tmpaxzxjjyw_mondo_relaxed.owl Sanfilippo syndrome type D|mucopolysaccharidosis type IIID|MPS3D|mucopolysaccharidosis, type 3D|mucopolysaccharidosis, type IIID|MPS IIID|N-acetylglucosamine-6-sulfate sulfatase deficiency|GNS deficiency|glucosamine N-acetyl-6-sulfatase deficiency|MPS III D|MPS 3D|Mucopoly-saccharidosis type 3D|Sanfilippo D|mucopolysaccharidosis type 3D|N-acetylglucosamine-6-sulfatase deficiency|MPSIIID|Sanfilippo syndrome D UMLS:C0086650|SCTID:15892005|NCIT:C84900|OMIM:252940|GARD:0007074|Orphanet:581|ICD10:E76.2|DOID:0111402|Orphanet:79272 owl:Class HGNC:4422 biolink:NamedThing GNS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001250 biolink:NamedThing keratomalacia An eye disorder that results from vitamin A deficiency, with basis in disruption of maintenance of the specialized epithelial surfaces, leading to atrophic changes in the normal mucosal surface, with loss of goblet cells, and replacement of the normal epithelium by an inappropriate keratinized stratified squamous epithelium. In addition, the substantia propria of the cornea breaks down and liquefies, resulting in keratomalacia. tmpaxzxjjyw_mondo_relaxed.owl SCTID:85149007|ICD10:H18.44|ICD9:371.45|UMLS:C0152455|GARD:0006825|DOID:11267|MESH:C536156 owl:Class HP:0007957 biolink:NamedThing Corneal opacity A reduction of corneal clarity. tmpaxzxjjyw_mondo_relaxed.owl Corneal opacities|Corneal clouding|Reduction of corneal clarity|Scarring or clouding of the cornea of the eye SNOMEDCT_US:413921009|UMLS:C0521719|MSH:D003318|SNOMEDCT_US:64634000|SNOMEDCT_US:95735008|UMLS:C0010038 HP:0007883|HP:0007844|HP:0008502 human_phenotype owl:Class UBERON:0003725 biolink:NamedThing cervical nerve plexus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013152 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 14 tmpaxzxjjyw_mondo_relaxed.owl SLEB14|systemic lupus erythematosus, susceptibility to, 14 OMIM:613145 owl:Class MONDO:0016276 biolink:NamedThing high-grade neuroendocrine carcinoma of the cervix uteri High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent. tmpaxzxjjyw_mondo_relaxed.owl poorly differentiated neuroendocrine carcinoma of the cervix uteri|poorly differentiated neuroendocrine cervical carcinoma|high-grade neuroendocrine carcinoma of the uterine cervix ICD10:C53.1|Orphanet:213777|ICD10:C53.8|UMLS:CN201066|ICD10:C53.0 owl:Class HGNC:2959 biolink:NamedThing DNASE1L3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1001601 biolink:NamedThing adrenal gland glandular cell Hormone secreting cell located in the cortex of adrenal gland. Glandular cells in the adrenal cortex secrete mineralocorticoids, glucocorticoids and androgens. tmpaxzxjjyw_mondo_relaxed.owl adrenal glandular cell|suprarenal gland glandular cell|adrenal gland glandular cells CALOHA:TS-2177 owl:Class HGNC:388 biolink:NamedThing AKR1D1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012448 biolink:NamedThing hereditary spastic paraplegia 33 Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant spastic paraplegia 33|ZFYVE27 hereditary spastic paraplegia|spastic paraplegia 33, autosomal dominant|hereditary spastic paraplegia type 33|SPG33|hereditary spastic paraplegia caused by mutation in ZFYVE27 UMLS:C1853251|OMIM:610244|MESH:C565214|DOID:0110784 owl:Class HGNC:26559 biolink:NamedThing ZFYVE27 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019620 biolink:NamedThing congenital esophageal diverticulum Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus. Many patients are asymptomatic, but respiratory distress, food regurgitation, dysphagia, chest pain, aspiration pneumonia and discomfort are typical presenting manifestations. tmpaxzxjjyw_mondo_relaxed.owl congenital esophageal pouch SCTID:204667006|Orphanet:91358|ICD10:Q39.6|ICD9:750.4 owl:Class HGNC:11364 biolink:NamedThing STAT3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017800 biolink:NamedThing pseudo-Meigs syndrome tmpaxzxjjyw_mondo_relaxed.owl pseudo-Demons-Meigs syndrome Orphanet:314459|ICD10:D27|UMLS:CN203759 owl:Class MONDO:0010226 biolink:NamedThing 46,XY sex reversal 2 tmpaxzxjjyw_mondo_relaxed.owl 46,XY sex reversal 2|46,XY Sex reversal, Dax1-related|dosage-sensitive Sex reversal|46,XY SEX reversal 2|46,XY Sex reversal type 2|SRXY2 Orphanet:242|DOID:0111777|MESH:C535601|OMIM:300018|Orphanet:251510|UMLS:C1848296 owl:Class HGNC:7960 biolink:NamedThing NR0B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000963 biolink:NamedThing esophageal lipoma A benign adipose tissue neoplasm of the esophagus. Clinical presentation includes obstruction, dysphagia, regurgitation, vomiting and reflux. It may be associated with aspiration and consecutive respiratory infections. tmpaxzxjjyw_mondo_relaxed.owl lipoma of esophagus|esophageal lipoma|lipoma of the esophagus|esophagus lipoma DOID:10187|UMLS:C1333455|NCIT:C5701 owl:Class UBERON:0003476 biolink:NamedThing respiratory system venous blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014457 biolink:NamedThing hyperphosphatasia with intellectual disability syndrome 5 Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene. tmpaxzxjjyw_mondo_relaxed.owl hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW|GPIBD11|HPMRS5|hyperphosphatasia with intellectual disability syndrome type 5|hyperphosphatasia with mental retardation syndrome type 5|hyperphosphatasia with intellectual disability syndrome 5|glycosylphosphatidylinositol biosynthesis defect 11|hyperphosphatasia with mental retardation syndrome 5|PIGW hyperphosphatasia-intellectual disability syndrome UMLS:C4014958|OMIM:616025|Orphanet:247262 owl:Class HGNC:23213 biolink:NamedThing PIGW tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013550 biolink:NamedThing distal myopathy with posterior leg and anterior hand involvement Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs. tmpaxzxjjyw_mondo_relaxed.owl distal ABD-filaminopathy|myopathy, distal, type 4|MPD4|myopathy, distal, 4|Williams distal myopathy UMLS:C3279722|ICD10:G71.0|Orphanet:63273|OMIM:614065|SCTID:733489002|UMLS:C4518807 owl:Class HP:0005132 biolink:NamedThing Pericardial constriction Compression of the heart caused by rigid, thickened, or fused pericardial membranes. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0240709 human_phenotype owl:Class HGNC:9834 biolink:NamedThing RAI1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009749 biolink:NamedThing giant axonal neuropathy 1 Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy. tmpaxzxjjyw_mondo_relaxed.owl gan giant axonal neuropathy|giant axonal neuropathy caused by mutation in gan|giant axonal neuropathy caused by mutation in GAN|giant axonal neuropathy 1, autosomal recessive|giant axonal neuropathy type 1|GAN1|GAN giant axonal neuropathy|gan|neuropathy, giant axonal|giant axonal neuropathy 1 OMIM:256850|ICD10:G60.8|Orphanet:643|MESH:D056768|GARD:0006500|UMLS:C1850386|DOID:0090068 https://github.com/monarch-initiative/mondo/issues/2532 owl:Class HGNC:4137 biolink:NamedThing GAN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018115 biolink:NamedThing epidermal nevus syndrome A syndrome characterized by lesions occurring on the face, scalp, or neck which consist of congenital hypoplastic malformations of cutaneous structures and which over time undergo verrucous hyperplasia. Additionally it is associated with neurological symptoms and skeletal, ophthalmological, urogenital, and cardiovascular abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Epidermal hamartoma syndrome MedDRA:10014985|Orphanet:35125|SCTID:239112008|ICD10:Q85.8 owl:Class MONDO:0012435 biolink:NamedThing 3-methylglutaconic aciduria type 5 A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria. tmpaxzxjjyw_mondo_relaxed.owl 3-methylglutaconic aciduria type 5|DCMA syndrome|MGCA5|3-methylglutaconic aciduria caused by mutation in DNAJC19|MGA 5|3 alpha methylglutaconic aciduria type V|dilated cardiomyopathy with ataxia|3-METHYLGLUTACONIC aciduria, type V|MGA V|DNAJC19 3-methylglutaconic aciduria|DCMA|cardiomyopathy, dilated, with ataxia|MGA5|Mga, type 5|3-methylglutaconic aciduria type V|3-Methylglutaconic aciduria, type 5|3 methylglutaconic aciduria type V MESH:C565706|Orphanet:66634|GARD:0010344|GARD:0012964|DOID:0110000|ICD10:E71.1|OMIM:610198|UMLS:C4039473|UMLS:C1857776|SCTID:711412004 https://rarediseases.info.nih.gov/diseases/10344/3-methylglutaconic-aciduria-type-v owl:Class GO:0042476 biolink:NamedThing odontogenesis The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. tmpaxzxjjyw_mondo_relaxed.owl odontosis|odontogenesis of calcareous or chitinous tooth|odontogeny|tooth morphogenesis|tooth development owl:Class MONDO:0012648 biolink:NamedThing isobutyryl-CoA dehydrogenase deficiency An inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25). tmpaxzxjjyw_mondo_relaxed.owl Acad8 deficiency|acyl-Coa dehydrogenase family, member 8, deficiency of|isobutyric aciduria|isobutyryl-CoA dehydrogenase deficiency|acyl-CoaA dehydrogenase family, member 8, deficiency of|IBD deficiency GARD:0010223|OMIM:611283|NCIT:C129975|UMLS:C1969809|Orphanet:79159|MESH:C535541|ICD10:E71.1 https://rarediseases.info.nih.gov/diseases/10223/isobutyryl-coa-dehydrogenase-deficiency|https://github.com/monarch-initiative/mondo/issues/324 owl:Class HGNC:87 biolink:NamedThing ACAD8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0022278 biolink:NamedThing nucleus of pudendal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005407 biolink:NamedThing childhood eosinophilic esophagitis An eosinophilic esophagitis that starts in childhood. tmpaxzxjjyw_mondo_relaxed.owl eosinophilic esophagitis of childhood|pediatric eosinophilic esophagitis EFO:0004594 owl:Class HGNC:28596 biolink:NamedThing B3GALNT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018243 biolink:NamedThing intellectual disability-hyperkinetic movement-truncal ataxia syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:G71.0|OMIM:615356|Orphanet:369847|UMLS:CN204803 owl:Class MONDO:0014047 biolink:NamedThing Cowden syndrome 5 Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene. tmpaxzxjjyw_mondo_relaxed.owl PIK3CA Cowden disease|Cowden syndrome type 5|Cowden disease caused by mutation in PIK3CA|CWS5|Cowden syndrome 5 Orphanet:201|OMIM:615108|UMLS:C3554518 owl:Class MONDO:0014770 biolink:NamedThing Joubert syndrome 25 Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome caused by mutation in CEP104|Joubert syndrome 25|CEP104 Joubert syndrome|JBTS25|Joubert syndrome type 25 DOID:0110994|UMLS:C4084842|OMIM:616781 owl:Class HGNC:24866 biolink:NamedThing CEP104 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018574 biolink:NamedThing intellectual disability-expressive aphasia-facial dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl intellectual disability-loss of expressive language-facial dysmorphism syndrome UMLS:CN237587|Orphanet:436151|ICD10:Q87.0|OMIM:616083|OMIM:616078 owl:Class MONDO:0003200 biolink:NamedThing urethra adenocarcinoma A carcinoma that arises from glandular epithelial cells of the urethra tmpaxzxjjyw_mondo_relaxed.owl urethra adenocarcinoma|adenocarcinoma of urethra|urethral adenocarcinoma|adenocarcinoma of the urethra|UAD NCIT:C6167|ONCOTREE:UAD|UMLS:C1336885|DOID:4910 owl:Class NCBITaxon:56210 biolink:NamedThing Calomys callosus tmpaxzxjjyw_mondo_relaxed.owl large vesper mouse GC_ID:1 ncbi_taxonomy owl:Class UBERON:0001302 biolink:NamedThing right uterine tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008727 biolink:NamedThing congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias. tmpaxzxjjyw_mondo_relaxed.owl 3-Beta-hydroxysteroid dehydrogenase deficiency|type II 3-beta-hydroxysteroid dehydrogenase deficiency|3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF|3-Beta-HSD deficiency|adrenal hyperplasia II|adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency|adrenal hyperplasia 2|adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency|HSD3B deficiency|CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency|3-beta HSD deficiency|3b-hydroxysteroid dehydrogenase deficiency GARD:0009152|Orphanet:90791|OMIM:201810|MESH:C538236|SCTID:54470008|Orphanet:418|ICD10:E25.0|NCIT:C131088 owl:Class HGNC:3377 biolink:NamedThing EPB41 tmpaxzxjjyw_mondo_relaxed.owl owl:Class Ne9749df26e4942b197ba37702b8b3312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl CL:1000447 biolink:NamedThing epithelial cell of stratum germinativum of esophagus A basal cell that is part of the epithelium of esophagus. tmpaxzxjjyw_mondo_relaxed.owl basal cell of esophageal epithelium FMA:70731 cell owl:Class MONDO:0013990 biolink:NamedThing pontocerebellar hypoplasia type 8 A novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum. tmpaxzxjjyw_mondo_relaxed.owl pontocerebellar hypoplasia, type 8|pontocerebellar hypoplasia type 8|CHMP1A non-syndromic pontocerebellar hypoplasia|non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A|pontocerebellar hypoplasia due to CHMP1A mutation|PCH8 ICD10:Q04.3|SCTID:718611007|DOID:0060277|UMLS:C3554209|Orphanet:324569|OMIM:614961 owl:Class HGNC:8740 biolink:NamedThing CHMP1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014223 biolink:NamedThing amyotrophic lateral sclerosis type 19 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the ERBB4 gene. tmpaxzxjjyw_mondo_relaxed.owl ERBB4 amyotrophic lateral sclerosis|amyotrophic lateral sclerosis caused by mutation in ERBB4|amyotrophic lateral sclerosis type 19|amyotrophic lateral sclerosis 19|ALS19 UMLS:C3715155|DOID:0060210|Orphanet:803|OMIM:615515 owl:Class CHEBI:24527 biolink:NamedThing herbicide A substance used to destroy plant pests. tmpaxzxjjyw_mondo_relaxed.owl Unkrautbekaempfungsmittel|Herbizid|herbicides|Wildkrautbekaempfungsmittel|Unkrautvertilgungsmittel owl:Class UBERON:0015179 biolink:NamedThing somite boundary epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009034 biolink:NamedThing craniofacial dyssynostosis Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus. tmpaxzxjjyw_mondo_relaxed.owl bilateral lambdoid and sagittal synostosis|craniofacial dyssynostosis with short stature|craniosynostosis-craniofacial dysostosis syndrome|craniofacial dyssynostosis and short stature MESH:C536455|ICD10:Q87.0|Orphanet:1516|UMLS:C1857511|OMIM:218350|GARD:0001575 https://rarediseases.info.nih.gov/diseases/1575/craniofacial-dyssynostosis owl:Class UBERON:0003325 biolink:NamedThing mesenchyme of pinna tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25155 biolink:NamedThing HOGA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0038065 biolink:NamedThing collagen-activated signaling pathway A series of molecular signals initiated by collagen binding to a cell surface receptor, and ending with regulation of a downstream cellular process, e.g. transcription. tmpaxzxjjyw_mondo_relaxed.owl collagen-activated signalling pathway owl:Class MONDO:0024532 biolink:NamedThing otofaciocervical syndrome 1 Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene. tmpaxzxjjyw_mondo_relaxed.owl OTFCS|OFC|EYA1 otofaciocervical syndrome|OFC1|otofaciocervical syndrome 1|otofaciocervical syndrome caused by mutation in EYA1 UMLS:C3714941|UMLS:CN034490|OMIM:166780|Orphanet:2792 owl:Class MONDO:0013266 biolink:NamedThing intellectual disability, autosomal dominant 20 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal dominant 20|chromosome 5Q14.3 deletion syndrome, proximal|MRD20|intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations|autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C|intellectual disability, autosomal dominant type 20|MEF2C autosomal dominant non-syndromic intellectual disability|mental retardation, autosomal dominant 20|mental retardation, autosomal dominant type 20|autosomal dominant mental retardation 20|autosomal dominant intellectual disability 20|mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations OMIM:613443|Orphanet:228384|UMLS:C3150700|DOID:0070050 owl:Class HGNC:6996 biolink:NamedThing MEF2C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012503 biolink:NamedThing thiopurine S-methyltransferase deficiency An acquired metabolic disease that is has its basis in the disruption of thiopurine S-methyltransferase activity. tmpaxzxjjyw_mondo_relaxed.owl TPMT deficiency|poor metabolism of thiopurines-1|6-mercaptopurine sensitivity|inborn error of thiopurine S-methyltransferase activity|thiopurines, poor metabolism of, 1|Thiopurines, poor metabolism of, 1|rare inborn error of thiopurine S-methyltransferase activity|thiopurine S-methyltransferase deficiency|inborn thiopurine S-methyltransferase activity disorder|thiopurine S methyltranferase deficiency|THPM1|thiopurine methyltransferase deficiency|Thiopurines, poor metabolism of SCTID:238012003|Orphanet:3315|DOID:0080172|OMIM:610460|NCIT:C4389|MESH:C536512|GARD:0005173 owl:Class HGNC:12014 biolink:NamedThing TPMT tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012172 biolink:NamedThing stomach primordium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1917 biolink:NamedThing CHD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:MFOMD_0000122 biolink:NamedThing phobia A persistent, irrational fear of a specific object, activity, or situation (the phobic stimulus) that results in a compelling desire to avoid it. DSM-IV-TR (american Psychiatric Association) tmpaxzxjjyw_mondo_relaxed.owl This often leads either to avoidance of the phobic stimulus or to enduring it with dread. owl:Class MONDO:0014339 biolink:NamedThing autosomal recessive spinocerebellar ataxia 16 Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia 16|autosomal recessive spinocerebellar ataxia type 16|STUB1 autosomal recessive cerebellar ataxia|spinocerebellar ataxia autosomal recessive type 16|autosomal recessive cerebellar ataxia caused by mutation in STUB1|SCAR16|spinocerebellar ataxia, autosomal recessive 16|spinocerebellar ataxia, autosomal recessive type 16|autosomal recessive cerebellar ataxia due to STUB1 deficiency OMIM:615768|Orphanet:412057|UMLS:C4014261|ICD10:G11.1|DOID:0080029 owl:Class MONDO:0014625 biolink:NamedThing developmental and epileptic encephalopathy, 33 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene. tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, type 33|early infantile epileptic encephalopathy caused by mutation in EEF1A2|EEF1A2 early infantile epileptic encephalopathy|DEE33|epileptic encephalopathy, early infantile, 33|EIEE33 OMIM:616409|UMLS:C4225337|DOID:0080463 owl:Class HGNC:10297 biolink:NamedThing RPIA tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chrXq25 biolink:NamedThing Xq25 (Human) tmpaxzxjjyw_mondo_relaxed.owl 129500000 121800000 hg38 owl:Class MONDO:0013263 biolink:NamedThing retinitis pigmentosa 54 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 54|PCARE retinitis pigmentosa|retinitis pigmentosa caused by mutation in PCARE|RP54|retinitis pigmentosa 54 UMLS:C3150691|ICD10:H35.5|DOID:0110364|OMIM:613428 owl:Class MONDO:0022846 biolink:NamedThing congenital nonhemolytic jaundice tmpaxzxjjyw_mondo_relaxed.owl GARD:0006177 https://rarediseases.info.nih.gov/diseases/6177/congenital-nonhemolytic-jaundice owl:Class MONDO:0018628 biolink:NamedThing HIV-associated cancer tmpaxzxjjyw_mondo_relaxed.owl HIV-related cancer UMLS:CN237671|Orphanet:443291 owl:Class GO:0004618 biolink:NamedThing phosphoglycerate kinase activity Catalysis of the reaction: 3-phospho-D-glycerate + ATP = 3-phospho-D-glyceroyl phosphate + ADP + H(+). tmpaxzxjjyw_mondo_relaxed.owl 3-phosphoglyceric acid kinase activity|3-PGK|glycerate 3-phosphate kinase activity|3-phosphoglyceric acid phosphokinase activity|phosphoglyceric acid kinase activity|PGK|ATP:3-phospho-D-glycerate 1-phosphotransferase activity|3-phosphoglyceric kinase activity|3-phosphoglycerate phosphokinase activity|ATP-3-phospho-D-glycerate-1-phosphotransferase activity|3-phosphoglycerate kinase activity|phosphoglycerokinase activity|ATP:D-3-phosphoglycerate 1-phosphotransferase activity|glycerophosphate kinase activity|phosphoglyceric kinase activity owl:Class MONDO:0003818 biolink:NamedThing childhood mature teratoma of the ovary A mature teratoma that arises from the ovary and occurs in children. tmpaxzxjjyw_mondo_relaxed.owl childhood ovarian mature teratoma|childhood mature teratoma of ovary|pediatric mature teratoma of the ovary|childhood mature ovarian teratoma|pediatric mature ovarian teratoma|pediatric ovarian mature teratoma|mature ovarian teratoma of childhood|pediatric mature teratoma of ovary NCIT:C6548|UMLS:C1332991|DOID:6229 owl:Class MONDO:0011002 biolink:NamedThing neuropathy, hereditary motor and sensory, type 6A Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, type 6|neuropathy, hereditary motor and sensory, type VIA|HMSN6A|Charcot-Marie-Tooth disease, type 6A|hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2|neuropathy, hereditary motor and sensory, type 6|peripheral neuropathy and optic atrophy|MFN2 hereditary motor and sensory neuropathy type 6|HMSN 6A UMLS:C0393807|Orphanet:90120|OMIM:601152 owl:Class MONDO:0013587 biolink:NamedThing glycogen storage disease due to lactate dehydrogenase H-subunit deficiency A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl LDH-H subunit deficiency|LDH deficiency B|LDHBD|lactate dehydrogenase B deficiency|GSD due to lactate dehydrogenase H-subunit deficiency|lactate dehydrogenase deficiency type B|glycogenosis due to lactate dehydrogenase H-subunit deficiency Orphanet:2364|OMIM:614128|MESH:C563641|UMLS:C3279904|GARD:0003161|ICD10:E74.0|Orphanet:284435 https://rarediseases.info.nih.gov/diseases/3161/lactate-dehydrogenase-b-deficiency owl:Class HGNC:6541 biolink:NamedThing LDHB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013498 biolink:NamedThing schizophrenia 15 A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33. tmpaxzxjjyw_mondo_relaxed.owl schizophrenia 15 with or without an affective disorder|SCZD15|schizophrenia susceptibility locus, chromosome 22Q13-related|schizophrenia type 15|schizophrenia 15 UMLS:C3151380|OMIM:613950|DOID:0070091 owl:Class UBERON:0003447 biolink:NamedThing digit nerve of manus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003365 biolink:NamedThing esophagus leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the esophagus. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of esophagus|esophagus leiomyosarcoma|esophageal leiomyosarcoma|leiomyosarcoma of the esophagus UMLS:C1333454|NCIT:C5334|DOID:5276 owl:Class HGNC:11634 biolink:NamedThing TCF4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:160 biolink:NamedThing ACTL6B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032608 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 3 tmpaxzxjjyw_mondo_relaxed.owl MC1DN3|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 OMIM:618224 owl:Class HGNC:9717 biolink:NamedThing PEX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13339 biolink:NamedThing KIF4A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014168 biolink:NamedThing severe combined immunodeficiency due to CORO1A deficiency tmpaxzxjjyw_mondo_relaxed.owl SCID due to coronin-1A deficiency|coronin-1A deficiency|severe combined immunodeficiency due to coronin-1A deficiency|immunodeficiency 8|immunodeficiency type 8|IMD8|severe combined immunodeficiency due to CORO1A deficiency|SCID due to CORO1A deficiency Orphanet:228003|ICD10:D81.2|OMIM:615401|UMLS:C3809383|DOID:0060019 owl:Class MONDO:0000417 biolink:NamedThing early onset absence epilepsy A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050708 owl:Class HP:0011147 biolink:NamedThing Typical absence seizure A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. tmpaxzxjjyw_mondo_relaxed.owl Typical absence|Typical absence seizures SNOMEDCT_US:79631006|SNOMEDCT_US:230413002|MSH:D004832|SNOMEDCT_US:432241000124101|SNOMEDCT_US:50866000|UMLS:C0014553 In 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (>80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. Typical absences have 2 essential components: (1) clinically the impairment of consciousness (absence), and (2) EEG generalized 3 Hz to 4 Hz (less than 2.5 Hz) spike and slow wave discharges. peter 2011-10-18T01:52:22Z human_phenotype owl:Class UBERON:0015789 biolink:NamedThing cranial or facial muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009845 biolink:NamedThing pelviscapular dysplasia Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl craniofacial dysmorphism, hypoplasia of scapula and pelvis and short stature|COUSIN syndrome|craniofacial Dysmorphism, hypoplasia of scapula and pelvis, and short stature|Cousin syndrome|familial pelvis-scapular dysplasia|pelviscapular dysplasia UMLS:C1850040|GARD:0001555|Orphanet:93333|MESH:C535550|OMIM:260660|ICD10:Q87.5|SCTID:719299009 owl:Class HGNC:11594 biolink:NamedThing TBX15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022538 biolink:NamedThing leukoplakia of gingiva A clinical term that indicates the presence of a white patch on the surface of the gum which cannot be characterized as any other disease. It may be a precancerous condition and in most cases histologic examination reveals keratosis. tmpaxzxjjyw_mondo_relaxed.owl leukoplakia of gingiva|gingival leukoplakia|Leukoplakia of Gingiva|Gingival Leukoplakia|Leukoplakia of gingiva ICD9:528.6|SCTID:32236000|UMLS:C0239737|NCIT:C3881 owl:Class OBO:CHR_9606-chrXp1 biolink:NamedThing Xp1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 61000000 37800000 hg38 owl:Class UBERON:0007289 biolink:NamedThing presumptive rhombomere 1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054835 biolink:NamedThing parkinsonism-dystonia, infantile, 1 tmpaxzxjjyw_mondo_relaxed.owl dopamine transporter deficiency syndrome|Parkinsonism-dystonia, infantile, 1|PKDYS|PKDYS1 OMIM:613135 owl:Class MONDO:0010393 biolink:NamedThing intellectual disability, X-linked 93 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked 93|mental retardation, X-linked type 93|intellectual disability, X-linked, with macrocephaly|mental retardation, X-linked, with macrocephaly|intellectual disability, X-linked type 93|non-syndromic X-linked intellectual disability caused by mutation in BRWD3|BRWD3 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 93|MRX93 MESH:C567066|UMLS:C1970841|OMIM:300659 owl:Class HGNC:17342 biolink:NamedThing BRWD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012745 biolink:NamedThing dilated cardiomyopathy 1Z Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TNNC1 gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, type 1Z|cardiomyopathy, dilated, 1Z|TNNC1 familial isolated dilated cardiomyopathy|CMD1Z|dilated cardiomyopathy type 1Z|familial isolated dilated cardiomyopathy caused by mutation in TNNC1 OMIM:611879|MESH:C567506|Orphanet:154|UMLS:C2678475|ICD10:I42.0|DOID:0110434 owl:Class MONDO:0009376 biolink:NamedThing carbamoyl phosphate synthetase I deficiency disease Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia. tmpaxzxjjyw_mondo_relaxed.owl CPS1 deficiency|carbamyl phosphate synthetase (CPS) deficiency|carbamoyl-phosphate synthase|carbamoyl-phosphate synthetase I deficiency|carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to|carbamoyl phosphate synthetase deficiency|hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency|carbamoyl phosphate synthetase 1 deficiency|deficiency disease|carbamoyl-phosphate synthetase deficiency|CPS1D|CPS I deficiency|carbamoyl phosphate synthetase I deficiency, hyperammonemia due to|CPS 1 deficiency|carbamoyl phosphate synthetase I deficiency disease|carbamoyl-phosphate synthetase 1 deficiency GARD:0007269|NCIT:C84612|Orphanet:147|DOID:9280|MedDRA:10058297|MESH:D020165|OMIM:237300|EFO:0007193|SCTID:62522004|ICD10:E72.2 owl:Class MONDO:0011888 biolink:NamedThing immunodeficiency 67 An immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria. tmpaxzxjjyw_mondo_relaxed.owl invasive pneumococcal disease, protection against|IPD1|Interleukin receptor-associated kinase deficiency|invasive pneumococcal disease, recurrent isolated, type 1|immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency|invasive pneumococcal disease, recurrent isolated, 1|IRAK4D|immunodeficiency 67|IRAK-4 deficiency|IRAK4 deficiency Orphanet:70592|GARD:0010311|UMLS:C1835828|UMLS:C1843256|MESH:C564352|MESH:C563662|ICD10:D84.8|OMIM:607676 owl:Class UBERON:0003869 biolink:NamedThing presumptive ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035825 biolink:NamedThing left adrenal gland cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006860 biolink:NamedThing extracellular amino acid transport The directed extracellular movement of amino acids. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014613 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene. tmpaxzxjjyw_mondo_relaxed.owl pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 3|PFBMFT3|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3|RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related Orphanet:2032|OMIM:616373|UMLS:C4225346 owl:Class HGNC:6443 biolink:NamedThing KRT6A tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000333 biolink:NamedThing serous cell of epithelium of lobular bronchiole A serous secreting cell that is part of the epithelium of bronchiole. tmpaxzxjjyw_mondo_relaxed.owl FMA:263084 cell owl:Class NCBITaxon:1789 biolink:NamedThing Mycobacterium xenopi tmpaxzxjjyw_mondo_relaxed.owl Mycobacterium xenopei|Mycobacterium xenopi Schwabacher 1959 (Approved Lists) emend. Nouioui et al. 2018 PMID:13641655|PMID:30186281|GC_ID:11 ncbi_taxonomy owl:Class CL:0010002 biolink:NamedThing epithelial cell of umbilical artery An epithelial cell that is part_of a umbilical artery. tmpaxzxjjyw_mondo_relaxed.owl umbilical artery epithelial cell GOC:cjm owl:Class HGNC:2978 biolink:NamedThing DNMT3A tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000284 biolink:NamedThing smooth muscle fiber of descending colon A smooth muscle cell that is part of the descending colon. tmpaxzxjjyw_mondo_relaxed.owl non-striated muscle fiber of descending colon FMA:17520 cell owl:Class UBERON:0011766 biolink:NamedThing left recurrent laryngeal nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013689 biolink:NamedThing ovarian dysgenesis 3 Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene. tmpaxzxjjyw_mondo_relaxed.owl ODG3|ovarian dysgenesis 3|PSMC3IP 46 XX gonadal dysgenesis|ovarian dysgenesis type 3|46 XX gonadal dysgenesis caused by mutation in PSMC3IP OMIM:614324|UMLS:C3280471|DOID:0080495|Orphanet:243 owl:Class MONDO:0004098 biolink:NamedThing malignant melanocytic peripheral nerve sheath tumor of mediastinum A rare variant of malignant peripheral nerve sheath tumor that arises from the mediastinum. It is characterized by the presence of malignant cells that contain melanin. tmpaxzxjjyw_mondo_relaxed.owl mediastinum malignant melanocytic neoplasm of the peripheral nerve sheath|malignant melanocytic neoplasm of the peripheral nerve sheath of mediastinum|malignant melanocytic peripheral nerve sheath tumor of mediastinum|malignant melanotic peripheral nerve sheath tumor of the mediastinum|mediastinal melanocytic MPNST|malignant mediastinal melanocytic peripheral nerve sheath tumor UMLS:C1334600|NCIT:C6630|DOID:7077 owl:Class MONDO:0012144 biolink:NamedThing Waardenburg syndrome type 2D Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene. tmpaxzxjjyw_mondo_relaxed.owl Waardenburg syndrome type 2 caused by mutation in SNAI2|WS2D|SNAI2 Waardenburg syndrome type 2|Waardenburg syndrome type IID|Waardenburg syndrome, type 2D Orphanet:3440|MESH:C563839|Orphanet:895|UMLS:C1837203|DOID:0110952|OMIM:608890 owl:Class UBERON:0005116 biolink:NamedThing metanephric descending thin limb tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001840 biolink:NamedThing semicircular canal tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03400148 biolink:NamedThing milk or milk product (us cfr) Milk in all forms, milk-based beverage, cultured milk product, or milk or milk product analog. Index infant formula under *MEAL REPLACEMENT*. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0148 http://langual.org owl:Class MONDO:0005460 biolink:NamedThing swine influenza An acute viral respiratory infection caused by a strain of influenza virus which is endemic in swine (pigs). Rarely reported in humans prior to 2009, the disease is caused by a mutated strain of swine influenza A (H1N1) virus. It is highly contagious and spreads mainly through coughing and sneezing. Signs and symptoms include fever, chills, coughing, sore throat headache, muscle ache, and generalized weakness. Antiviral medications are most effective in the first two days of the illness. tmpaxzxjjyw_mondo_relaxed.owl H1N1 flu|H1N1 Influenza|swine flu|Swine influenza virus caused influenza|H1N1 Virus infection|Swine influenza virus influenza|Influenza A (H1N1)|Influenza A (H1N1) Virus infection EFO:0005226|DOID:0050211|SCTID:442696006|NCIT:C80444 owl:Class MONDO:0012930 biolink:NamedThing autosomal recessive severe congenital neutropenia due to G6PC3 deficiency tmpaxzxjjyw_mondo_relaxed.owl Dursun syndrome|neutropenia, severe congenital, 4, autosomal recessive|autosomal recessive severe congenital neutropenia due to G6PC3 deficiency|SCN4|severe congenital neutropenia type 4|severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome|pulmonary arterial hypertension, leukopenia, and atrial septal defect OMIM:612541|ICD10:D70|UMLS:C2675526|Orphanet:331176 owl:Class HGNC:24861 biolink:NamedThing G6PC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5468 biolink:NamedThing IGFALS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022855 biolink:NamedThing congenital vagal hyperreflexivity tmpaxzxjjyw_mondo_relaxed.owl GARD:0001508 https://rarediseases.info.nih.gov/diseases/1508/congenital-vagal-hyperreflexivity owl:Class HGNC:9871 biolink:NamedThing RASA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class Ne95678ad5d154d008104f9e56d650ffd biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0043759 biolink:NamedThing abdominal ectopic pregnancy Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs. tmpaxzxjjyw_mondo_relaxed.owl ectopic pregnancy of abdomen|intra-abdominal pregnancy|abdominal pregnancy|abdominal Pregnancies|abdomen ectopic pregnancy|Pregnancies, abdominal SCTID:82661006|NCIT:C92921|MESH:D011269 owl:Class HGNC:30551 biolink:NamedThing TXNL4A tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:43075 biolink:NamedThing Trichomonas tenax tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0004139 biolink:NamedThing cardiogenic plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class N3856863131264f9092a57202751ea04c biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0011777 biolink:NamedThing nucleus of spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005773 biolink:NamedThing Gerstmann syndrome Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe. tmpaxzxjjyw_mondo_relaxed.owl GS|developmental Gerstmann syndrome|aphasia-angular gyrus syndrome|Gerstmann Badal syndrome|Gerstmann tetrad ICD10:F81.2|EFO:0007285|GARD:0008660|Orphanet:221117|DOID:4969|MESH:D005862|MedDRA:10048608|ICD9:784.69|SCTID:36785009 https://rarediseases.info.nih.gov/diseases/8660/gerstmann-syndrome owl:Class MONDO:0019140 biolink:NamedThing acute ackee fruit intoxication Acute ackee fruit intoxication (also referred to as Jamaican vomiting syndrome or sickness) is caused by the ingestion of unripe Blighia sapida fruits. It is a serious intoxication that is frequent in certain countries in the Caribbean and Western Africa. In contrast, it is rare in France and other Western countries. Intoxication leads to toxic hypoglycaemia and inhibition of neoglucogenesis. The hypoglycaemia is caused by the effect of hypoglycin A, which is found in the arils. tmpaxzxjjyw_mondo_relaxed.owl Jamaican vomiting sickness|ackee poisoning|Jamaican vomiting syndrome|acute intoxication by Blighia sapida MESH:C537562|Orphanet:73423|SCTID:49434001|GARD:0009299|ICD10:T62.2|ICD9:988.2 owl:Class MONDO:0004640 biolink:NamedThing alcoholic gastritis Inflammation of the stomach resulting from alcohol ingestion. tmpaxzxjjyw_mondo_relaxed.owl alcoholic gastritis|alcoholic gastritis, with hemorrhage|alcoholic gastritis, without mention of hemorrhage ICD9:535.30|SCTID:2043009|UMLS:C0156076|ICD10:K29.2|NCIT:C26977|ICD9:535.3|DOID:8680 owl:Class MONDO:0009329 biolink:NamedThing pulmonary venoocclusive disease 2 A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal. tmpaxzxjjyw_mondo_relaxed.owl pulmonary capillary hemangiomatosis|hemangiomatosis, familial pulmonary capillary|PVOD2|familial pulmonary capillary hemangiomatosis|pulmonary venoocclusive disease 2, autosomal recessive ICD10:D18.0|ICD9:416.8|OMIM:234810|MESH:C535861|Orphanet:199241|SCTID:233949008|GARD:0008527|UMLS:C0340548 Editor note: check ORDO class - not clear if it intends to be the same as PVOD2 owl:Class HGNC:19687 biolink:NamedThing EIF2AK4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000227 biolink:NamedThing African tick-bite fever tmpaxzxjjyw_mondo_relaxed.owl Rickettsia africae spotted fever|South African tick-bite fever DOID:0050035|SCTID:415561000|UMLS:C1320317 owl:Class NCBITaxon:35788 biolink:NamedThing Rickettsia africae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:8934912|PMID:7902843 ncbi_taxonomy owl:Class MONDO:0013624 biolink:NamedThing Rafiq syndrome Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive type 15|CDG2U|MAN1B1 autosomal recessive non-syndromic intellectual disability|mental retardation, autosomal recessive 15|RAFQS|intellectual disability, autosomal recessive 15|autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1|MRT15 OMIM:614202|UMLS:C3280127 owl:Class HGNC:6823 biolink:NamedThing MAN1B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008447 biolink:NamedThing intertarsal joint tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003492 biolink:NamedThing lacrimal gland squamous cell carcinoma A squamous cell carcinoma that involves the lacrimal gland. tmpaxzxjjyw_mondo_relaxed.owl lacrimal gland epidermoid carcinoma|squamous cell carcinoma of lacrimal gland|squamous cell carcinoma of the lacrimal gland|epidermoid carcinoma of the lacrimal gland|epidermoid carcinoma of lacrimal gland|lacrimal gland squamous cell carcinoma DOID:5529|UMLS:C1334360|NCIT:C6092 owl:Class MONDO:0007573 biolink:NamedThing acute erythroleukemia, familial An instance of acute erythroleukemia that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl Di Guglielmo disease, familial|hereditary acute erythroid leukemia|ERYTHROLEUKEMIA, familial|leukemia, acute myelogenous, M6 OMIM:133180|MESH:C565039|Orphanet:318|EFO:0000218|ICD9:207.0|UMLS:C0023440|NCIT:C8923 owl:Class MONDO:0016351 biolink:NamedThing anti-HLA hyperimmunization Anti-HLA hyperimmunization is an increase in anti-HLA antigens mostly seen in chronic renal failure (CRF) patients that have undergone hemodialysis and polytransfusion. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201194|GARD:0000730|Orphanet:2194 https://rarediseases.info.nih.gov/diseases/730/anti-hla-hyperimmunization owl:Class HGNC:17616 biolink:NamedThing IL17RD tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042475 biolink:NamedThing odontogenesis of dentin-containing tooth The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. tmpaxzxjjyw_mondo_relaxed.owl tooth development|odontosis|odontogeny|odontogenesis of dentine-containing tooth|odontogenesis of dentine-containing teeth owl:Class CL:0002166 biolink:NamedThing epithelial cell of Malassez An epithelial cell that remains from the disintegration of the epithelial root sheath involved in the development of teeth. tmpaxzxjjyw_mondo_relaxed.owl epithelial debris of Malassez|epithelial cell rests of Malassez FMA:62987 tmeehan 2010-08-26T08:51:27Z cell owl:Class MONDO:0019554 biolink:NamedThing idiopathic localized lipodystrophy Idiopathic localized lipodystrophy is a rare, acquired, localized lipodystrophy characterized by asymptomatic, well-demarcated, depressed, lipoatrophic lesions of variable size, with normal overlying skin without antecedent inflammation or a known identifiable cause (autoimmune disease, drug injection, injury, etc). tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227650|ICD10:E88.1|Orphanet:90158 owl:Class MONDO:0009560 biolink:NamedThing oculotrichoanal syndrome tmpaxzxjjyw_mondo_relaxed.owl MANITOBA oculotrichoanal syndrome|Marles-Greenberg-Persaud syndrome|Manitoba Trichoanal syndrome|Marles syndrome|MOTA syndrome|Manitoba oculotrichoanal syndrome|unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies|MOTA ICD10:Q87.8|UMLS:C1855425|MESH:C536022|ICD9:759.89|GARD:0003395|OMIM:248450|SCTID:703539006|Orphanet:2717 owl:Class HGNC:574 biolink:NamedThing AP4M1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11769 biolink:NamedThing TGFB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class N994622f229454ffea132cdf281ae6ac7 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0035552 biolink:NamedThing deep vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009788 biolink:NamedThing optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive OMIM:258650 owl:Class GO:0004563 biolink:NamedThing beta-N-acetylhexosaminidase activity Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. tmpaxzxjjyw_mondo_relaxed.owl beta-acetylhexosaminidinase activity|beta-hexosaminidase activity|beta-N-acetyl-D-hexosaminide N-acetylhexosaminohydrolase activity|N-acetyl-beta-hexosaminidase activity|hexosaminidase A|beta-D-hexosaminidase activity|beta-D-N-acetylhexosaminidase activity|beta-acetylaminodeoxyhexosidase activity|N-acetylhexosaminidase activity|N-acetyl-beta-D-hexosaminidase activity|N-acetyl-beta-glucosaminidase activity|beta-N-acetyl-D-hexosaminidase activity owl:Class UBERON:0005064 biolink:NamedThing left ventricular trabecular myocardium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:967 biolink:NamedThing BBS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002764 biolink:NamedThing urethra squamous cell carcinoma A well differentiated, moderately differentiated, or poorly differentiated squamous cell carcinoma that arises from the male or female urethra. tmpaxzxjjyw_mondo_relaxed.owl urethra squamous cell carcinoma|urethra epidermoid carcinoma|urethral squamous cell cancer|urethral epidermoid carcinoma|squamous cell carcinoma of the urethra|squamous cell carcinoma of urethra|USCC|epidermoid carcinoma of urethra|urethral squamous cell carcinoma|epidermoid carcinoma of the urethra UMLS:C1336890|NCIT:C6165|ONCOTREE:USCC|DOID:3750 owl:Class MONDO:0007543 biolink:NamedThing enolase, sperm specific tmpaxzxjjyw_mondo_relaxed.owl ENO4|enolase, sperm specific OMIM:131375 owl:Class UBERON:0001978 biolink:NamedThing parenchyma of pancreas tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13211 biolink:NamedThing ATP2C1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010811 biolink:NamedThing benign prostatic hyperplasia A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow. tmpaxzxjjyw_mondo_relaxed.owl benign prostate hyperplasia|benign prostatic hyperplasia|benign prostatic hypertrophy|prostatic hypertrophy|prostatic hyperplasia, benign|benign prostatic Hypertrophy|BPH|benign hyperplasia of prostate|prostate hypertrophy|benign hyperplasia of the prostate|benign prostatic hyperplasia (disease)|benign prostatic hyperplasia - BPH benign prostatic hyperplasia (disease) NCIT:C2897|OMIM:600082|EFO:0000284|UMLS:C1704272|ICD9:600.20|ICD9:600.0|ICD9:600|DOID:11132|DOID:2883|HP:0008711|SCTID:266569009|MESH:D011470 MONDO:0001201 owl:Class HGNC:445 biolink:NamedThing SETX tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005733 biolink:NamedThing limb field tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013922 biolink:NamedThing Seckel syndrome 7 Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. tmpaxzxjjyw_mondo_relaxed.owl Seckel syndrome type 7|NIN Seckel syndrome|microcephalic primordial dwarfism, Dauber type|SCKL7|Seckel syndrome caused by mutation in NIN|Seckel syndrome 7 ICD10:Q87.1|Orphanet:319675|UMLS:C3553870|DOID:0070011|OMIM:614851 ORDO calls this microcephalic primordial dwarfism, Dauber type owl:Class HGNC:14906 biolink:NamedThing NIN tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0018140 biolink:NamedThing mammary lobe tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003045 biolink:NamedThing anal gland neoplasm Tumors or cancer of the anal gland. tmpaxzxjjyw_mondo_relaxed.owl gland of anal canal neoplasm (disease)|tumor of gland of anal canal|gland of anal canal tumor|gland of anal canal neoplasm|neoplasm of gland of anal canal UMLS:C0002757|EFO:1000804|MESH:D000694|DOID:4550 owl:Class GO:0006560 biolink:NamedThing proline metabolic process The chemical reactions and pathways involving proline (pyrrolidine-2-carboxylic acid), a chiral, cyclic, nonessential alpha-amino acid found in peptide linkage in proteins. tmpaxzxjjyw_mondo_relaxed.owl proline metabolism owl:Class HP:0002748 biolink:NamedThing Rickets Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. tmpaxzxjjyw_mondo_relaxed.owl Weak and soft bones SNOMEDCT_US:41345002|MSH:D012279|UMLS:C0035579 human_phenotype owl:Class HGNC:6912 biolink:NamedThing MATR3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21653 biolink:NamedThing TOPORS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020398 biolink:NamedThing congenital mitral stenosis Congenital mitral stenosis is a congenital heart malformation comprising a spectrum of morphologically heterogeneous developmental anomalies that result in functional and anatomic obstruction of inflow into the left ventricle. The structure of the mitral valve is affected at the level of the supravalvular ring, annulus, leaflets or subvalvar copmponents and include supra-valvular ring, leaflet fusion (intra-leaflet ring), mitral parachute deformity and papillary muscle abnormalities. It may be isolated or associated with other heart malformations. The clinical presentation depends on the degree of obstruction, the presence of regurgitation, the presence and severity of associated pulmonary hypertension, and the presence of associated heart malformations. It may present with symptoms and signs of low cardiac output and right ventricular failure such as pulmonary infections, failure to thrive, exertional dyspnoea, cough, cyanosis and congestive heart failure. tmpaxzxjjyw_mondo_relaxed.owl congenital mitral valve stenosis|hereditary mitral valve stenosis|congenital mitral stenosis (disease)|congenital mitral stenosis congenital mitral stenosis (disease) GARD:0001496|ICD9:746.5|Orphanet:99057|HP:0011570|ICD10:Q23.2|SCTID:82458004 owl:Class UBERON:0005472 biolink:NamedThing right vitelline vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013679 biolink:NamedThing sclerosteosis 2 Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene. tmpaxzxjjyw_mondo_relaxed.owl sclerosteosis caused by mutation in LRP4|SOST2|LRP4 sclerosteosis|sclerosteosis 2|sclerosteosis type 2 OMIM:614305|Orphanet:3152|ICD10:M85.2|DOID:0060757|UMLS:C3280402 owl:Class MONDO:0013879 biolink:NamedThing pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 tmpaxzxjjyw_mondo_relaxed.owl pulmonary fibrosis and/or bone marrow failure, Telomere-related, type 2|pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 2|pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2|PFBMFT2 OMIM:614743|UMLS:C3553622|Orphanet:88 owl:Class UBERON:0003382 biolink:NamedThing cardiac muscle of left ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1540 biolink:NamedThing SERPINA6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0045042 biolink:NamedThing restricted to specific location tmpaxzxjjyw_mondo_relaxed.owl localized owl:Class UBERON:0006596 biolink:NamedThing presumptive blood tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:8000004 biolink:NamedThing salmonella discitis Discitis caused by infection with Salmonella. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009958 biolink:NamedThing bladder lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002292 biolink:NamedThing T cell differentiation involved in immune response The process in which an antigenically naive T cell acquires the specialized features of an effector, regulatory, or memory T cell as part of an immune response. Effector T cells include cells which provide T cell help or exhibit cytotoxicity towards other cells. tmpaxzxjjyw_mondo_relaxed.owl T lymphocyte differentiation during immune response|T-lymphocyte differentiation during immune response|T cell differentiation during immune response|T-cell differentiation during immune response|T cell development involved in immune response owl:Class HGNC:14409 biolink:NamedThing SLC25A19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:33287 biolink:NamedThing fertilizer A fertilizer is any substance that is added to soil or water to assist the growth of plants. tmpaxzxjjyw_mondo_relaxed.owl fertilizers|fertiliser owl:Class CHEBI:64996 biolink:NamedThing EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitor A lipoxygenase inhibitor that interferes with the action of arachidonate 15-lipoxygenase (EC 1.13.11.33). tmpaxzxjjyw_mondo_relaxed.owl arachidonate 15-lipoxygenase (EC 1.13.11.33) inhibitors|15-LOX inhibitor|arachidonate 15-lipoxygenase inhibitor|linoleic acid omega(6)-lipoxygenase inhibitor|arachidonate:oxygen 15-oxidoreductase inhibitors|arachidonate:oxygen 15-oxidoreductase inhibitor|15-lipoxygenase inhibitors|15-LOX inhibitors|EC 1.13.11.33 (arachidonate 15-lipoxygenase) inhibitors|arachidonate 15-lipoxygenase inhibitors|15-lipoxygenase inhibitor|omega(6) lipoxygenase inhibitors|linoleic acid omega(6)-lipoxygenase inhibitors|omega(6) lipoxygenase inhibitor|EC 1.13.11.33 inhibitor|EC 1.13.11.33 inhibitors|arachidonate 15-lipoxygenase (EC 1.13.11.33) inhibitor owl:Class PO:0025530 biolink:NamedThing reproductive shoot system development stage A shoot system development stage (PO:0025527) that has as primary participant a reproductive shoot system (PO:0025082). tmpaxzxjjyw_mondo_relaxed.owl PO_GIT:517 Laurel_Cooper 2012-12-13T19:01:14Z plant_structure_development_stage owl:Class CHEBI:173085 biolink:NamedThing ferroptosis inducer Any substance that induces or promotes ferroptosis (a type of programmed cell death dependent on iron and characterized by the accumulation of lipid peroxides) in organisms. tmpaxzxjjyw_mondo_relaxed.owl ferroptosis inducers owl:Class NCBITaxon:12083 biolink:NamedThing Human poliovirus 2 tmpaxzxjjyw_mondo_relaxed.owl HPV-2|Poliovirus 2|Poliovirus type 2|Human Poliovirus type 2 GC_ID:1 ncbi_taxonomy owl:Class HGNC:9122 biolink:NamedThing PMS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004258 biolink:NamedThing female orgasmic disorder A sexual disorder in which a woman fails to achieve orgasm during sexual intercourse. tmpaxzxjjyw_mondo_relaxed.owl inhibited female orgasm|female orgasmic disorder DOID:7518|NCIT:C34958|ICD10:F52.31|SCTID:60103007|ICD9:302.73 owl:Class MONDO:0010873 biolink:NamedThing band heterotopia of brain tmpaxzxjjyw_mondo_relaxed.owl band heterotopia of brain|band heterotopia|BH MESH:C563950|OMIM:600348|Orphanet:99796|UMLS:C1838239 Editor check: TODO owl:Class MONDO:0007606 biolink:NamedThing fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites. tmpaxzxjjyw_mondo_relaxed.owl fibrodysplasia ossificans progressiva|myositis ossificans progressiva|fop|progressive ossifying myositis|progressive myositis ossificans|Stone Man syndrome|Stone man syndrome MedDRA:10068715|GARD:0006445|DOID:13374|UMLS:C0016037|Orphanet:337|NCIT:C3040|ICD9:728.11|ICD10:M61.1|ICD10:M61.10|SCTID:82725007|OMIM:135100 owl:Class MONDO:0021137 biolink:NamedThing not rare tmpaxzxjjyw_mondo_relaxed.owl common owl:Class ENVO:01001367 biolink:NamedThing primary aerosol formation process A material transport process during which solid or liquid particles are directly introduced into a volume of gas. tmpaxzxjjyw_mondo_relaxed.owl primary aerosol formation owl:Class N407e2845e22c4793b20375d46355d666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl CHEBI:25213 biolink:NamedThing metal cation tmpaxzxjjyw_mondo_relaxed.owl a metal cation|metal cations owl:Class ECTO:9001687 biolink:NamedThing exposure to micronutrient An exposure to micronutrient. tmpaxzxjjyw_mondo_relaxed.owl exposure to micronutrient owl:Class CHEBI:59517 biolink:NamedThing DNA synthesis inhibitor Any substance that inhibits the synthesis of DNA. tmpaxzxjjyw_mondo_relaxed.owl DNA synthesis inhibitors owl:Class GO:1900017 biolink:NamedThing positive regulation of cytokine production involved in inflammatory response Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cytokine production involved in acute inflammatory response|up regulation of cytokine production involved in acute inflammatory response|up regulation of cytokine production involved in inflammatory response owl:Class MONDO:0004361 biolink:NamedThing adult spinal cord ependymoma An ependymoma of the spinal cord occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl spinal cord ependymoma of adults|spinal cord ependymoma|adult spinal cord ependymoma UMLS:C1332215|DOID:7788|NCIT:C27399 owl:Class HGNC:12783 biolink:NamedThing WNT4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014622 biolink:NamedThing isolated focal non-epidermolytic palmoplantar keratoderma tmpaxzxjjyw_mondo_relaxed.owl palmoplantar keratoderma, nonepidermolytic, focal 2|palmoplantar keratoderma, nonepidermolytic, focal type 2|FNEPPK2 UMLS:C4225339|OMIM:616400|Orphanet:448264 owl:Class MONDO:0010282 biolink:NamedThing mycobacterium tuberculosis, susceptibility to, X-linked tmpaxzxjjyw_mondo_relaxed.owl MTBSX|mycobacterium tuberculosis, susceptibility to, X-linked OMIM:300259 owl:Class MONDO:0015009 biolink:NamedThing lymphatic malformation 7 tmpaxzxjjyw_mondo_relaxed.owl hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to; HFASD|hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to|HFASD OMIM:617300 owl:Class UBERON:0036289 biolink:NamedThing anterior wall of right ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:15573 biolink:NamedThing SETBP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001090 biolink:NamedThing formation of a solid aerosol from gaseous material in an atmosphere A process during which microscopic solid particulates are formed from gaseous materials in an atmosphere. tmpaxzxjjyw_mondo_relaxed.owl formation of solid particles from gaseous material in an atmosphere|atmospheric formation of a solid aerosol|formation of a solid aerosol in an atmosphere|formation of a solid aerosol in the atmosphere owl:Class MONDO:0007637 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 1 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene. tmpaxzxjjyw_mondo_relaxed.owl COL8A2 Fuchs' endothelial dystrophy|FECD1|Fuchs' endothelial dystrophy caused by mutation in COL8A2|corneal dystrophy, Fuchs endothelial, early-onset|corneal dystrophy, Fuchs endothelial, 1|corneal dystrophy, Fuchs endothelial, type 1 OMIM:136800|MESH:C535478|UMLS:C1850959|Orphanet:98974 owl:Class UBERON:0011249 biolink:NamedThing appendicular skeletal system tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:12103 biolink:NamedThing Cardiovirus tmpaxzxjjyw_mondo_relaxed.owl Cardioviruses GC_ID:1 ncbi_taxonomy owl:Class HGNC:1152 biolink:NamedThing BVES tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011717 biolink:NamedThing hyperinsulinism-hyperammonemia syndrome Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur. tmpaxzxjjyw_mondo_relaxed.owl glutamate dehydrogenase 1 hyperinsulinism|hyperinsulinism-hyperammonemia syndrome|HA/hi syndrome|hyperinsulinism/hyperammonemia syndrome|GDH hyperinsulinism|HHF6|hyperinsulinemic hypoglycemia, familial, 6|GLUD1 hyperinsulinism|hyperinsulinemic hypoglycemia familial 6|hyperinsulinemic hypoglycemia, familial, type 6|hyperinsulinism hyperammonemia syndrome|hi/HA syndrome MESH:C538375|UMLS:C1847555|NCIT:C131832|DOID:0070217|OMIM:606762|GARD:0009931|ICD10:E72.8|Orphanet:35878 https://rarediseases.info.nih.gov/diseases/9931/hyperinsulinism-hyperammonemia-syndrome owl:Class MONDO:0008201 biolink:NamedThing Perry syndrome Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression. tmpaxzxjjyw_mondo_relaxed.owl Parkinsonism with alveolar hypoventilation and mental depression|Perry syndrome|parkinsonism with alveolar hypoventilation and mental depression GARD:0010453|SCTID:699184009|Orphanet:178509|MESH:C566822|OMIM:168605|ICD9:348.89|UMLS:C1868594|DOID:0060486 https://rarediseases.info.nih.gov/diseases/10453/perry-syndrome owl:Class MONDO:0008514 biolink:NamedThing syndactyly type 3 Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers. tmpaxzxjjyw_mondo_relaxed.owl syndactyly, type III|GJA1 non-syndromic syndactyly|syndactyly, type 3|non-syndromic syndactyly caused by mutation in GJA1|syndactyly of fingers 4 and 5|SD3|Sdty3|Ring and Little finger syndactyly|syndactyly of the ring and little finger|syndactyly of fingers four and five MESH:C538154|ICD10:Q70.1|UMLS:C1861366|Orphanet:93404|GARD:0005088|SCTID:715725001|OMIM:186100 https://rarediseases.info.nih.gov/diseases/5088/syndactyly-type-3 owl:Class MONDO:0005789 biolink:NamedThing hepatitis D virus infection Inflammation of the liver in humans caused by hepatitis delta virus, a defective rna virus that can only infect hepatitis B patients. For its viral coating, hepatitis delta virus requires the hepatitis B surface antigens produced by these patients. Hepatitis D can occur either concomitantly with (coinfection) or subsequent to (superinfection) hepatitis B infection. Similar to hepatitis B, it is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact. tmpaxzxjjyw_mondo_relaxed.owl hepatitis type D|Hepatitis D virus|hepatitis delta|Hepatitis delta virus hepatitis|HDV|delta hepatitis|Hepatitis delta virus caused hepatitis ICD10:B17.0|SCTID:707341005|ICD9:070.52|DOID:2047|MESH:D003699|EFO:0007304|Orphanet:402823 owl:Class NCBITaxon:36826 biolink:NamedThing Clostridium botulinum A tmpaxzxjjyw_mondo_relaxed.owl PMID:8863443|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0004726 biolink:NamedThing liver inflammatory myofibroblastic tumor A multinodular intermediate fibroblastic neoplasm arising from the liver. It is characterized by the presence of spindle-shaped fibroblasts and myofibroblasts, and a chronic inflammatory infiltrate composed of eosinophils, lymphocytes and plasma cells. tmpaxzxjjyw_mondo_relaxed.owl liver inflammatory myofibroblastic tumor|inflammatory pseudotumor of the liver|hepatic inflammatory myofibroblastic tumor|inflammatory pseudotumor of liver|liver inflammatory pseudotumor SCTID:717329009|DOID:918|EFO:1000324|UMLS:C1333967|NCIT:C5858 owl:Class UBERON:0003576 biolink:NamedThing hip connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014162 biolink:NamedThing infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life. tmpaxzxjjyw_mondo_relaxed.owl COXPD16|combined oxidative phosphorylation deficiency caused by mutation in MRPL44|MRPL44 combined oxidative phosphorylation deficiency|combined oxidative phosphorylation deficiency 16|combined oxidative phosphorylation defect type 16|combined oxidative phosphorylation deficiency type 16 Orphanet:352563|GARD:0012892|OMIM:615395|DOID:0111469|UMLS:C3809339|ICD10:I42.2 owl:Class MONDO:0006343 biolink:NamedThing ovarian transitional cell carcinoma A carcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that resemble malignant urothelial cells. There is no morphologic evidence of a benign or borderline Brenner tumor component present. tmpaxzxjjyw_mondo_relaxed.owl ovary transitional cell carcinoma|ovarian transitional cell cancer|malignant ovarian transitional cell neoplasm|transitional cell carcinoma of the ovary|ovarian transitional cell neoplasm|transitional cell carcinoma of ovary|ovarian transitional cell carcinoma UMLS:C1335184|EFO:1000435|NCIT:C5240|DOID:4000 owl:Class UBERON:0004240 biolink:NamedThing gall bladder smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000518 biolink:NamedThing Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. tmpaxzxjjyw_mondo_relaxed.owl Cloudy lens|Cataracts|Clouding of the lens of the eye|Lens opacities|Lens opacity MSH:D002386|UMLS:C0086543|SNOMEDCT_US:128306009|SNOMEDCT_US:247053007|Fyler:4865|SNOMEDCT_US:193570009|UMLS:C1510497 Note that some ophthalmologists call any opacity in the lens a cataract, while others restrict the term to lens opacities that impair vision. We use the term to refer to the first meaning (any lens opacity). HP:0010700|HP:0001113|HP:0007825 human_phenotype owl:Class MONDO:0009816 biolink:NamedThing autosomal recessive osteopetrosis 2 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFSF11 gene. tmpaxzxjjyw_mondo_relaxed.owl TNFSF11 autosomal recessive malignant osteopetrosis|OPTB2|osteopetrosis autosomal recessive 2|osteopetrosis, autosomal recessive type 2|osteopetrosis osteoclast-poor|osteopetrosis, autosomal recessive 2|osteopetrosis, mild autosomal recessive form|osteopetrosis, osteoclast-poor|autosomal recessive osteopetrosis caused by mutation in TNFSF11|mild autosomal recessive form osteopetrosis|autosomal recessive osteopetrosis type 2|autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11|TNFSF11 autosomal recessive osteopetrosis|osteoclast-poor osteopetrosis DOID:0110943|Orphanet:667|MESH:C536059|OMIM:259710|GARD:0004157 https://rarediseases.info.nih.gov/diseases/4157/osteopetrosis-autosomal-recessive-2 owl:Class HGNC:11926 biolink:NamedThing TNFSF11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7585 biolink:NamedThing MYL4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014734 biolink:NamedThing epilepsy, idiopathic generalized, susceptibility to, 14 tmpaxzxjjyw_mondo_relaxed.owl susceptibility to idiopathic generalized epilepsy 14|epilepsy, idiopathic generalized, susceptibility to, 14|EIG14|epilepsy, idiopathic generalized, susceptibility to, type 14|epilepsy, idiopathic generalized, susceptibility to, 14; EIG14 OMIM:616685|DOID:0111315 https://github.com/monarch-initiative/mondo/issues/2543 owl:Class NCBITaxon:11155 biolink:NamedThing Torovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010340 biolink:NamedThing Asperger syndrome, X-linked, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl ASPGX1|Asperger syndrome, X-linked, susceptibility to, type 1|Asperger syndrome, X-linked, susceptibility to, 1|ASPERGER syndrome, X-linked, susceptibility to, 1|susceptibility to X-linked asperger syndrome 1 UMLS:C1845341|OMIM:300494 owl:Class HGNC:6663 biolink:NamedThing LORICRIN tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14262 biolink:NamedThing AUTS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0016175 biolink:NamedThing superoxide-generating NAD(P)H oxidase activity Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2-. tmpaxzxjjyw_mondo_relaxed.owl cytochrome B-245 owl:Class GO:0017111 biolink:NamedThing nucleoside-triphosphatase activity Catalysis of the reaction: a nucleoside triphosphate + H2O = nucleoside diphosphate + phosphate. tmpaxzxjjyw_mondo_relaxed.owl apyrase activity|nucleoside 5-triphosphatase activity|NTPase activity|nucleoside-5-triphosphate phosphohydrolase activity|nucleoside triphosphatase activity|nucleoside triphosphate hydrolase activity|unspecific diphosphate phosphohydrolase activity|nucleoside triphosphate phosphohydrolase activity owl:Class GO:0035735 biolink:NamedThing intraciliary transport involved in cilium assembly The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. tmpaxzxjjyw_mondo_relaxed.owl intraflagellar transport involved in cilium morphogenesis|intraciliary transport involved in cilium morphogenesis|intraflagellar transport owl:Class HGNC:15464 biolink:NamedThing SPINK5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0002539 biolink:NamedThing prostaglandin production involved in inflammatory response The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. tmpaxzxjjyw_mondo_relaxed.owl prostaglandin production involved in acute inflammatory response owl:Class MONDO:0011857 biolink:NamedThing atrial fibrillation, familial, 3 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNQ1 gene. tmpaxzxjjyw_mondo_relaxed.owl atrial fibrillation, familial, type 3|familial atrial fibrillation caused by mutation in KCNQ1|atrial fibrillation, familial, 3|ATFB3|KCNQ1 familial atrial fibrillation Orphanet:334|MESH:C563817|UMLS:C1837014|OMIM:607554 owl:Class MONDO:0014358 biolink:NamedThing AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant intellectual disability 25|mental retardation, autosomal dominant 25|intellectual disability, autosomal dominant 25|MRD25|autosomal dominant mental retardation 25|Xia-Gibbs syndrome|AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome OMIM:615829|ICD10:Q87.8|DOID:0070055|UMLS:C4014419|Orphanet:412069|EFO:0009015 owl:Class HGNC:25230 biolink:NamedThing AHDC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8617 biolink:NamedThing PAX3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004276 biolink:NamedThing fourth ventricle choroid plexus epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000774 biolink:NamedThing Narrow chest Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. tmpaxzxjjyw_mondo_relaxed.owl Reduced anterior-posterior chest diameter|Narrow shoulders|Low chest circumference|Narrow chest|Narrow thorax SNOMEDCT_US:249671009|UMLS:C0426790 HP:0005252|HP:0006588|HP:0000909 human_phenotype owl:Class HGNC:7863 biolink:NamedThing NNT tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000279 biolink:NamedThing smooth muscle cell of large intestine A smooth muscle cell that is part of the large intestine. tmpaxzxjjyw_mondo_relaxed.owl non-striated muscle fiber of large intestine FMA:15653 cell owl:Class CL:0002359 biolink:NamedThing placental hematopoietic stem cell A hematopoietic stem cell of the placenta. This cell type is first observed E10.5 This cell type may give rise to fetal liver hematopoietic stem cells. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-09-22T10:30:02Z cell owl:Class HGNC:11540 biolink:NamedThing TAF6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015049 biolink:NamedThing solitary necrotic nodule of the liver Solitary necrotic tumor of the liver is a rare nonmalignant hepatic lesion characterized by a mass with a completely necrotic core often partially calcified, surrounded by a dense hyalinized fibrous capsule containing elastin fibers. Patients are usually asymptomatic but some may suffer from intermittent abdominal pain or discomfort. tmpaxzxjjyw_mondo_relaxed.owl hepatic solitary necrotic nodule SCTID:447058001|Orphanet:100035|UMLS:CN197336|ICD10:D13.4 owl:Class UBERON:0004832 biolink:NamedThing anal region skeletal muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03430130 biolink:NamedThing food (liquid) A state of matter between a solid and a gas, in which a substance has the capacity to flow and conforms to the shape of the container. Liquids range from water to honey, corresponding to a range in viscosity (or apparent viscosity) from 1 to 500 centipoise (viscosity is a measure of a liquid's resistance to flow). Products that are pourable but have a higher viscosity are *SEMILIQUID*. tmpaxzxjjyw_mondo_relaxed.owl SUBSET_SIREN:F5105 SIREN DB annotation: * has quality 'liquid' (http://purl.obolibrary.org/obo/FOODON_03430130) owl:Class HGNC:9071 biolink:NamedThing PLG tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:121226 biolink:NamedThing Pediculus humanus capitis tmpaxzxjjyw_mondo_relaxed.owl human head lice|Pediculus capitis|human head louse PMID:23049889|GC_ID:1|PMID:18434207 ncbi_taxonomy owl:Class MONDO:0010973 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 5 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness caused by mutation in GSDME|autosomal dominant deafness 5|deafness, autosomal dominant type 5|DFNA5|deafness, autosomal dominant 5|autosomal dominant nonsyndromic deafness 5|autosomal dominant nonsyndromic deafness type 5|GSDME autosomal dominant nonsyndromic deafness MESH:C563410|OMIM:600994|ICD10:H90.3|DOID:0110575|UMLS:C1832932 owl:Class HGNC:2810 biolink:NamedThing GSDME tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013039 biolink:NamedThing 3M syndrome 2 Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene. tmpaxzxjjyw_mondo_relaxed.owl 3M2|3-M syndrome caused by mutation in OBSL1|three M syndrome type 2|OBSL1 3-M syndrome|three M syndrome 2|3M syndrome 2 UMLS:C2752041|MESH:C567862|OMIM:612921|Orphanet:2616 owl:Class MONDO:0015384 biolink:NamedThing digestive duplication cyst of the tongue Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus. tmpaxzxjjyw_mondo_relaxed.owl gastric duplication cyst of the tongue|tongue cysts and fistulae of the face and oral cavity|foregut duplication cyst of the tongue|cysts and fistulae of the face and oral cavity of tongue|enteric duplication cyst of the tongue ICD10:Q38.3|Orphanet:141071 owl:Class HGNC:2396 biolink:NamedThing CRYBA4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0010771 biolink:NamedThing negative regulation of cell morphogenesis involved in differentiation Any process that decreases the frequency, rate or extent of cell morphogenesis contributing to cell differentiation. Cell morphogenesis involved in differentiation is the change in form (cell shape and size) that occurs when relatively unspecialized cells acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:583 biolink:NamedThing Proteus tmpaxzxjjyw_mondo_relaxed.owl Proteus|Liquidobacterium PMID:26944634|GC_ID:11 ncbi_taxonomy owl:Class PATO:0002045 biolink:NamedThing dendritic A branched quality inhering in a bearer by virtue of the bearer's having smaller branches arising from larger branches. Resembling a tree in branching structure. tmpaxzxjjyw_mondo_relaxed.owl dendriform|dendroid|dendroidal owl:Class MONDO:0004848 biolink:NamedThing ulcerative stomatitis Inflammation of the mouth mucosa associated with the presence of ulcers. tmpaxzxjjyw_mondo_relaxed.owl ulcerative stomatitis SCTID:450005|ICD9:528.00|ICD10:K12.1|DOID:9673|UMLS:C0038367|NCIT:C35039 owl:Class HP:0000155 biolink:NamedThing Oral ulcer Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. tmpaxzxjjyw_mondo_relaxed.owl Mouth sore|Mouth ulcer|Oral mucosal ulceration MSH:D019226|UMLS:C0149745|SNOMEDCT_US:26284000 human_phenotype owl:Class MONDO:0003186 biolink:NamedThing esophageal adenoid cystic carcinoma An infrequent esophageal carcinoma arising from esophageal glands. (WHO) tmpaxzxjjyw_mondo_relaxed.owl esophageal adenoid cystic cancer|adenoid cystic carcinoma of esophagus|adenoid cystic carcinoma of the esophagus|esophageal adenoid cystic carcinoma|esophagus adenoid cystic carcinoma|adenoid cystic carcinoma, esophagus|adenoid cystic esophagus carcinoma NCIT:C5342|DOID:4878|UMLS:C1333441 owl:Class MONDO:0013950 biolink:NamedThing peroxisome biogenesis disorder 11B tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder 11B|peroxisome biogenesis disorder type 11B|PBD11B Orphanet:772|Orphanet:44|UMLS:C3554001|OMIM:614885 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class UBERON:0005648 biolink:NamedThing manual digit 5 epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009166 biolink:NamedThing pontocerebellar hypoplasia type 4 Pontocerebellar hypoplasia type 4 (PCH4) is a very rare form of PCH, characterized by prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. tmpaxzxjjyw_mondo_relaxed.owl PCH4|pontocerebellar hypoplasia, type 4|encephalopathy fatal infantile with olivopontocerebellar hypoplasia|fatal infantile encephalopathy with olivopontocerebellar hypoplasia|olivopontocerebellar hypoplasia|encephalopathy, fatal infantile, with olivopontocerebellar Hypoplasia DOID:0060273|OMIM:225753|ICD10:Q04.3|MESH:C536716|SCTID:718608006|GARD:0000343|UMLS:C1856974|Orphanet:166063 https://rarediseases.info.nih.gov/diseases/343/pontocerebellar-hypoplasia-type-4 owl:Class MONDO:0017815 biolink:NamedThing acquired porencephaly An instance of porencephaly that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired porencephaly UMLS:C0151860|SCTID:38837006|ICD10:G93.0|Orphanet:314697 owl:Class UBERON:0009636 biolink:NamedThing prechordal cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022643 biolink:NamedThing carcinoma of the vocal tract A carcinoma that involves the laryngeal vocal fold. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of laryngeal vocal fold|laryngeal vocal fold carcinoma GARD:0005996 owl:Class OBO:CHR_9606-chr3q29 biolink:NamedThing 3q29 (Human) tmpaxzxjjyw_mondo_relaxed.owl 198295559 192600000 hg38 owl:Class UBERON:0009709 biolink:NamedThing ventral pancreas tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6522 biolink:NamedThing LCAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044212 biolink:NamedThing chronic idiopathic urticaria Chronic form of idiopathic urticaria. tmpaxzxjjyw_mondo_relaxed.owl idiopathic urticaria, chronic|chronic idiopathic urticaria UMLS:C0578870|SCTID:302162004 owl:Class UBERON:0011931 biolink:NamedThing nasal hair tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016549 biolink:NamedThing central nervous system white matter layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1665 biolink:NamedThing SCARB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:8000002 biolink:NamedThing escherichia coli discitis Discitis caused by infection with Escherichia coli. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10892 biolink:NamedThing SIX6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019103 biolink:NamedThing benign exophthalmos syndrome Benign exophthalmos syndrome is characterised by slowly progressive unilateral exophthalmos and ipsilateral mucosal turbinate hypertrophy, without intraorbital or intranasal lesions. tmpaxzxjjyw_mondo_relaxed.owl bes SCTID:719519007|ICD10:H05.2|UMLS:C4304668|Orphanet:71269 owl:Class MONDO:0010256 biolink:NamedThing intellectual disability, X-linked 21 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene. tmpaxzxjjyw_mondo_relaxed.owl MRX21|mental retardation, X-linked 21|non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1|mental retardation, X-linked type 21|intellectual disability, X-linked 21|IL1RAPL1 non-syndromic X-linked intellectual disability|mental retardation, X-linked 34|intellectual disability, X-linked type 21|intellectual disability, X-linked 34 OMIM:300143 owl:Class HGNC:5996 biolink:NamedThing IL1RAPL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:28369 biolink:NamedThing THOC6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10254 biolink:NamedThing ROM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001748 biolink:NamedThing capsule of parathyroid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16940 biolink:NamedThing DGAT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001246 biolink:NamedThing interlobular bile duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:10545 biolink:NamedThing electron Elementary particle not affected by the strong force having a spin 1/2, a negative elementary charge and a rest mass of 0.000548579903(13) u, or 0.51099906(15) MeV. tmpaxzxjjyw_mondo_relaxed.owl beta(-)|beta-particle|beta|e|negatron|e(-)|Elektron|e-|electron owl:Class N4c5cca9d2b3d4aa7b3c8e05a61f29238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011923 biolink:NamedThing osteoarthritis susceptibility 3 Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene. tmpaxzxjjyw_mondo_relaxed.owl ASPN osteoarthritis|osteoarthritis susceptibility 3|osteoarthritis susceptibility type 3|OS3|osteoarthritis caused by mutation in ASPN|osteoarthritis of knee/hip OMIM:607850 owl:Class MONDO:0023186 biolink:NamedThing Fraser Jequier Chen syndrome tmpaxzxjjyw_mondo_relaxed.owl chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/abs GARD:0002373|MESH:C535481|UMLS:C2930912 https://rarediseases.info.nih.gov/diseases/2373/fraser-jequier-chen-syndrome owl:Class HGNC:4061 biolink:NamedThing SLC37A4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035127 biolink:NamedThing suture of hard palate tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0004029 biolink:NamedThing aldehyde dehydrogenase (NAD+) activity Catalysis of the reaction: an aldehyde + NAD+ + H2O = an acid + NADH + H+. tmpaxzxjjyw_mondo_relaxed.owl NAD-linked aldehyde dehydrogenase activity|NAD-dependent 4-hydroxynonenal dehydrogenase activity|aldehyde:NAD+ oxidoreductase activity|NAD-aldehyde dehydrogenase activity|NAD-dependent aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD+)|m-methylbenzaldehyde dehydrogenase activity|propionaldehyde dehydrogenase activity|CoA-independent aldehyde dehydrogenase activity owl:Class CHEBI:35481 biolink:NamedThing non-narcotic analgesic A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6383 biolink:NamedThing KNG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0072175 biolink:NamedThing epithelial tube formation The developmental process pertaining to the initial formation of an epithelial tube. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018019 biolink:NamedThing lead poisoning 5 ug/dL) is reported to lead to irreversible effects such as loss of cognition, shortening of attention span, alteration of behavior, dyslexia, attention deficit disorder, hypertension, renal impairment, immunotoxicity and toxicity to the reproductive organs. tmpaxzxjjyw_mondo_relaxed.owl saturnism|plumbism|Lead intoxication Orphanet:330015|MESH:D007855|ICD10:T56.0|ICD9:984.9|SCTID:38342005|ICD9:984.8 owl:Class GO:0070330 biolink:NamedThing aromatase activity Catalysis of the reduction of an aliphatic ring to yield an aromatic ring. tmpaxzxjjyw_mondo_relaxed.owl estrogen synthetase activity owl:Class UBERON:0004925 biolink:NamedThing submucosa of laryngopharynx tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018643 biolink:NamedThing susceptibility to localized juvenile periodontitis tmpaxzxjjyw_mondo_relaxed.owl ICD10:D71|Orphanet:447740 owl:Class GO:0002430 biolink:NamedThing complement receptor mediated signaling pathway A series of molecular signals generated as a consequence of a component of the complement pathway binding to a complement receptor. Such components include both whole complement proteins and fragments of complement proteins generated through the activity of the complement pathway. tmpaxzxjjyw_mondo_relaxed.owl immune response-regulating cell surface receptor signalling pathway|complement receptor mediated signalling pathway owl:Class NCBITaxon:1257 biolink:NamedThing Peptostreptococcus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:11491354 ncbi_taxonomy owl:Class MONDO:0001972 biolink:NamedThing Brucella melitensis brucellosis A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has symptom fever, has symptom malaise, has symptom anorexia, has symptom limb pain and has symptom back pain. tmpaxzxjjyw_mondo_relaxed.owl ICD9:023.0|ICD10:A23.0|SCTID:427999003|DOID:14456|UMLS:C0302362 owl:Class UBERON:0013687 biolink:NamedThing pericranium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012115 biolink:NamedThing scoliosis, isolated, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl IS3|scoliosis, isolated, susceptibility to, 3 OMIM:608765 owl:Class HP:0007447 biolink:NamedThing Diffuse palmoplantar hyperkeratosis Diffuse abnormal thickening of the skin on the palms and soles. tmpaxzxjjyw_mondo_relaxed.owl Hyperkeratosis, diffuse palmoplantar|Diffuse palmoplantar keratoderma UMLS:C4021575|MSH:D015776 The terms hyperkeratosis and keratoderma have been used interchangeably throughout the literature. HP:0007435 human_phenotype owl:Class HGNC:6137 biolink:NamedThing ITGA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5273 biolink:NamedThing HSPG2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0000395 biolink:NamedThing cochlear ganglion tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9359 biolink:NamedThing SLC26A5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:09200008 biolink:NamedThing composition of soil The composition of some soil. tmpaxzxjjyw_mondo_relaxed.owl soil composition owl:Class HGNC:3671 biolink:NamedThing FGF14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013931 biolink:NamedThing peroxisome biogenesis disorder 4B tmpaxzxjjyw_mondo_relaxed.owl non-classic peroxisome biogenesis disorder|peroxisome biogenesis disorder type 4B|PBD4B|peroxisome biogenesis disorder 4B Orphanet:772|OMIM:614863|UMLS:C3553937|Orphanet:44|NCIT:C155755 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class HP:0012826 biolink:NamedThing Moderate Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:446421000124109|SNOMEDCT_US:6736007|UMLS:C0205081 PATO:0000395, moderate. peter 2014-06-06T06:48:12Z human_phenotype owl:Class NCBITaxon:1648 biolink:NamedThing Erysipelothrix rhusiopathiae tmpaxzxjjyw_mondo_relaxed.owl Bacterium rhusiopathiae|Bacillus insidiosus|Erysipelothrix murisepticus|Erysipelothrix erysipeloides|Erysipelothrix porci|Erysipelothrix insidiosa|Bacillus rhusiopathiae suis PMID:8427802|PMID:1503975|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0014871 biolink:NamedThing retinitis pigmentosa 75 Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 75|AGBL5 retinitis pigmentosa|retinitis pigmentosa 75|RP75|retinitis pigmentosa caused by mutation in AGBL5 OMIM:617023|UMLS:C4310759|DOID:0110361|ICD10:H35.5 owl:Class HGNC:26147 biolink:NamedThing AGBL5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030990 biolink:NamedThing intraciliary transport particle A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. tmpaxzxjjyw_mondo_relaxed.owl IFT complex|intraflagellar transport particle|intraflagellar transport complex owl:Class UBERON:0005875 biolink:NamedThing 4th arch pharyngeal cleft tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005291 biolink:NamedThing brain aneurysm A congenital or acquired aneurysm within the cranium. tmpaxzxjjyw_mondo_relaxed.owl intracranial aneurysm|brain aneurysm EFO:0003870|UMLS:C0007766|NCIT:C34458|DOID:10941|NCIT:C27208|MESH:D002532 owl:Class ECTO:0000007 biolink:NamedThing exposure to visible light radiation A exposure event involving the interaction of an exposure receptor to visible spectrum radiation. tmpaxzxjjyw_mondo_relaxed.owl visible spectrum radiation exposure owl:Class HP:0008321 biolink:NamedThing Reduced factor X activity Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). tmpaxzxjjyw_mondo_relaxed.owl Decreased factor x activity|Factor X deficiency UMLS:C4024702|MSH:D005171|SNOMEDCT_US:76642003|UMLS:C0015519 human_phenotype owl:Class MONDO:0001917 biolink:NamedThing chronic perichondritis of pinna Chronic form of perichondritis of auricle. tmpaxzxjjyw_mondo_relaxed.owl chronic perichondritis of auricle|perichondritis of auricle, chronic|chronic pinna perichondritis ICD9:380.02|SCTID:45431004|DOID:14243|UMLS:C0155391 owl:Class UBERON:0003660 biolink:NamedThing eyelid muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1773 biolink:NamedThing Mycobacterium tuberculosis tmpaxzxjjyw_mondo_relaxed.owl Bacterium tuberculosis|Bacillus tuberculosis|Mycobacterium tuberculosis var. hominis|Mycobacterium tuberculosis typus humanus|Mycobacterium tuberculosis variant tuberculosis PMID:29205127|GC_ID:11 NCBITaxon:2528440 ncbi_taxonomy owl:Class MONDO:0018148 biolink:NamedThing vasoproliferative tumor of retina Vasoproliferative tumor of the retina is a rare, benign, retinal vascular disease characterized by solitary or multiple, unilateral or bilateral, intra-retinal tumor(s), usually located in the peripheral infero-temporal quadrant, and often associated with sub- and intraretinal exudates, epiretinal membranes, exudative retinal detachment and cystoid macular edema, as well as, occasionally, retinal and vitreous hemorrhage. Patients may present with visual loss, floaters, and/or photopsia. Association with various conditions, such as retinitis pigmentosa, congenital retinal toxoplasmosis, retinopathy of prematurity, or coloboma, has been reported. tmpaxzxjjyw_mondo_relaxed.owl vasoproliferative tumor of the retina|retinal vasoproliferative tumor|vasoproliferative tumor of the ocular fundus|vasoproliferative tumor of ocular fundus|VPTR UMLS:CN204546|Orphanet:353356|ICD10:D31.2 owl:Class GO:0005587 biolink:NamedThing collagen type IV trimer A collagen heterotrimer containing type IV alpha chains; [alpha1(IV)]2alpha2(IV) trimers are commonly observed, although more type IV alpha chains exist and may be present in type IV trimers; type IV collagen triple helices associate to form 3 dimensional nets within basement membranes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013862 biolink:NamedThing immunodeficiency, common variable, 7 tmpaxzxjjyw_mondo_relaxed.owl CVID7|immunodeficiency, common variable, 7|immunodeficiency, common variable, type 7 UMLS:C3542922|Orphanet:1572|OMIM:614699 owl:Class ECTO:0001055 biolink:NamedThing exposure to decreased air temperature A exposure event involving the interaction of an exposure receptor to decreased amount of temperature of air. tmpaxzxjjyw_mondo_relaxed.owl exposure to decreased amount in temperature of air owl:Class CHEBI:46883 biolink:NamedThing carboxy group tmpaxzxjjyw_mondo_relaxed.owl -C(O)OH|-COOH|carboxy|carboxyl group|CARBOXY GROUP|-CO2H owl:Class HGNC:10545 biolink:NamedThing MSMO1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014990 biolink:NamedThing uncombable hair syndrome 3 Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene. tmpaxzxjjyw_mondo_relaxed.owl TCHH uncombable hair syndrome|uncombable hair syndrome type 3|uncombable hair syndrome 3; UHS3|uncombable hair syndrome caused by mutation in TCHH|UHS3|uncombable hair syndrome 3 OMIM:617252|UMLS:C4310648 owl:Class Nb59e424c056c400481b4831fe5b445ab biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022815 biolink:NamedThing congenital absence of the sternocleidomastoid muscle tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931075|GARD:0009972|MESH:C535977 https://rarediseases.info.nih.gov/diseases/9972/congenital-absence-of-the-sternocleidomastoid-muscle owl:Class MONDO:0015672 biolink:NamedThing diprosopus Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the central nervous, cardiovascular, gastrointestinal and respiratory systems. Cleft lip and palate have been reported in rare cases. tmpaxzxjjyw_mondo_relaxed.owl craniofacial duplication|Diprosopia SCTID:62192003|GARD:0001876|Orphanet:1681 owl:Class FOODON:03411041 biolink:NamedThing chemical food component Any chemical or chemical mixture that exists in a food material or was added to a food material. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0036484 biolink:NamedThing Charcot-Marie-Tooth disease, dominant intermediate G tmpaxzxjjyw_mondo_relaxed.owl CMTDIG|Charcot-Marie-Tooth disease, dominant intermediate G|Charcot-Marie-Tooth disease dominant intermediate G DOID:0080294|OMIM:617882|UMLS:CN847583 owl:Class MONDO:0008718 biolink:NamedThing Morvan syndrome Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases. tmpaxzxjjyw_mondo_relaxed.owl limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome|Morvan's fibrillary chorea GARD:0009766|Orphanet:83467|ICD10:G60.8|SCTID:763803004|UMLS:C0751540|EFO:1001897 owl:Class MONDO:0021275 biolink:NamedThing papilloma of eyelid A papilloma that involves the eyelid. tmpaxzxjjyw_mondo_relaxed.owl eyelid papilloma|papilloma of the eyelid SCTID:314515006|NCIT:C4061|UMLS:C1142491 owl:Class MONDO:0006540 biolink:NamedThing dyshidrosis A recurrent eczematous reaction characterized by the development of vesicular eruptions on the palms and soles, particularly along the sides and between the digits. It is accompanied by pruritus, a burning sensation, and hyperhidrosis. The disease is self-limiting, lasting only a few weeks. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl pompholyx|cheiropompholyx|dyshidrosis|vesicular eczema of hands and/or feet|DYSHYDROTIC eczema DOID:9230|ICD9:705.81|EFO:1000688|Wikipedia:Dyshidrosis|SCTID:402567004|UMLS:C0032633|ICD9:692.9|MESH:D011146 owl:Class UBERON:0003508 biolink:NamedThing pedal digit blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:0000776 biolink:NamedThing exposure to signalling molecule An exposure to signalling molecule. tmpaxzxjjyw_mondo_relaxed.owl exposure to signalling molecule owl:Class MONDO:0020681 biolink:NamedThing Ehlers-Danlos syndrome, musculocontractural type 1 tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, musculocontractural type, 1|EDSMC1|EDSMC|Ehlers-Danlos syndrome, type Vib|Ehlers-Danlos syndrome, type Vib, formerly|adducted thumb, clubfoot, and Progressive Joint and skin laxity syndrome|Arthrogryposis, Distal, with peculiar facies and hydronephrosis|adducted thumb-clubfoot syndrome|Dundar syndrome OMIM:601776|NCIT:C168975 owl:Class HP:0009755 biolink:NamedThing Ankyloblepharon Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. tmpaxzxjjyw_mondo_relaxed.owl Ankyloblepharon filiforme adnatum|Eyelids stuck together|Eyelid synechiae|Adhesion of eyelids UMLS:C0339182|SNOMEDCT_US:400952003|SNOMEDCT_US:193953008|MSH:C536373|UMLS:C1302999 A minimally expressed form, especially when located fully laterally, may be more difficult to ascertain and would be a subjective feature. A band may break and leave no evidence of its presence. Note that the term is distinct from cryptophthalmos. peter 2009-01-31T08:52:59Z human_phenotype owl:Class MONDO:0011836 biolink:NamedThing thyroid Hurthle cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl thyroid cancer, follicular, Hurthle cell type|Hurthle cell thyroid cancer|follicular thyroid cancer, Hurthle cell type|thyroid carcinoma, Hurthle cell|oncocytic carcinoma of the thyroid|thyroid cancer, Hurthle cell|Hurthle cell thyroid neoplasia ONCOTREE:THHC|MESH:C536913|Orphanet:146|SCTID:423158009|DOID:8161|GARD:0009428|OMIM:607464 owl:Class MONDO:0044309 biolink:NamedThing Diamond-Blackfan anemia 16 tmpaxzxjjyw_mondo_relaxed.owl Diamond-Blackfan anemia 16|DBA16 UMLS:C4479424|OMIM:617408|Orphanet:124 owl:Class MONDO:0001019 biolink:NamedThing suppression amblyopia A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivation-induced amblyopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications. tmpaxzxjjyw_mondo_relaxed.owl strabismic amblyopia UMLS:C0750903|ICD9:368.01|ICD10:H53.03|DOID:10375|SCTID:35600002 owl:Class NCBITaxon:548681 biolink:NamedThing Herpesvirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008632 biolink:NamedThing urticaria, aquagenic Aquagenic urticaria is a rare condition in which urticaria (hives) develop rapidly after the skin comes in contact with water, regardless of its temperature. It most commonly affects women and symptoms often start around the onset of puberty. Some patients report itching too. It is a form of physical urticaria . The exact underlying cause of aquagenic urticaria is currently unknown. Due to the rarity of the condition, there is very limited data regarding the effectiveness of individual treatments; however, various medications and therapies have been used with variable success. tmpaxzxjjyw_mondo_relaxed.owl aquagenic urticaria|urticaria, aquagenic ICD9:708.8|UMLS:C0263334|MESH:C562481|GARD:0010901|SCTID:89870006|OMIM:191850 https://rarediseases.info.nih.gov/diseases/10901/aquagenic-urticaria owl:Class MONDO:0008351 biolink:NamedThing pupil, egg-shaped tmpaxzxjjyw_mondo_relaxed.owl pupil, egg-shaped|egg shaped pupils|ovoid pupils 2022-04-01 OMIM:178800|GARD:0008291|MESH:C566731 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none https://rarediseases.info.nih.gov/diseases/8291/egg-shaped-pupils owl:Class MONDO:0007197 biolink:NamedThing bladder diverticulum tmpaxzxjjyw_mondo_relaxed.owl bladder diverticulum (disease)|diverticulum of bladder|bladder diverticulum|diverticulum - bladder bladder diverticulum (disease) DOID:11353|OMIM:109820|MESH:C562406|HP:0000015|ICD9:596.3|ICD10:N32.3|SCTID:197866008 owl:Class MONDO:0001856 biolink:NamedThing splenic artery aneurysm tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155747|SCTID:70405009|ICD9:442.83|DOID:14006 owl:Class MONDO:0007148 biolink:NamedThing appendicitis, proneness to tmpaxzxjjyw_mondo_relaxed.owl appendicitis, susceptibility|appendicitis, proneness to OMIM:107700 owl:Class MONDO:0010185 biolink:NamedThing methylmalonic aciduria and homocystinuria type cblD A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations. tmpaxzxjjyw_mondo_relaxed.owl methylmalonic acidemia with homocystinuria, type cblD|homocystinuria, cblD type, variant 1, included|methylmalonic aciduria, Cblh type, formerly|m0e.321 cobalamin locus d variant|methylmalonic aciduria and homocystinuria type cblD|Mehtylmalonic acidemia with homocystinuria cbI d|methylmalonic acidemia with homocystinuria type cblD|methylmalonic acidemia, Cblh type, formerly|cobalamin D deficiency|cblD defect|methylmalonic aciduria, cblD type, variant 2|cblD - cobalamin locus d|cobalamin D defect|cobalamin d disease|methylmalonic acidemia and homocystinuria, cblD type|methylmalonic aciduria, Cblh type|cblD methylmalonic acidemia and homocystinuria|methylmalonic aciduria, cblD type, variant 2, included|homocystinuria, cblD type, variant 1|methylmalonic aciduria with homocystinuria, type cblD|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD|methylmalonic acidemia, Cblh type|MAHCD|methylmalonic aciduria and homocystinuria, cblD type GARD:0003582|DOID:0050716|OMIM:277410|SCTID:31220004|Orphanet:622|MESH:C564743|Orphanet:26|UMLS:CN205879|ICD10:E72.1|Orphanet:28|Orphanet:308442|Orphanet:79283|Orphanet:308380 owl:Class MONDO:0003712 biolink:NamedThing angiokeratoma of mibelli tmpaxzxjjyw_mondo_relaxed.owl SCTID:62727008|DOID:5948|UMLS:C0263640|NCIT:C3927 owl:Class MONDO:0019487 biolink:NamedThing epilepsy with myoclonic absences tmpaxzxjjyw_mondo_relaxed.owl ICD10:G40.4|Orphanet:86911|SCTID:230422001 owl:Class MONDO:0020442 biolink:NamedThing left superior vena cava persisting to left-sided atrium tmpaxzxjjyw_mondo_relaxed.owl left SVC persisting to left-sided atrium|left superior caval vein persisting to left-sided atrium ICD10:Q26.1|ICD9:747.49|Orphanet:99111|SCTID:445436005 owl:Class MONDO:0032654 biolink:NamedThing hyper-IgE recurrent infection syndrome 3, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE|HIES3 OMIM:618282|DOID:0080595 owl:Class MONDO:0011511 biolink:NamedThing clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia tmpaxzxjjyw_mondo_relaxed.owl Chzam|clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia UMLS:C1857942|MESH:C565729|OMIM:605040 owl:Class HP:0012440 biolink:NamedThing Abnormal biliary tract morphology A structural abnormality of the biliary tree. tmpaxzxjjyw_mondo_relaxed.owl Anomaly of the biliary tract UMLS:C4021086 peter 2013-11-23T02:15:33Z human_phenotype owl:Class MONDO:0009522 biolink:NamedThing Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961. tmpaxzxjjyw_mondo_relaxed.owl LEUKOMELANODERMA, infantilism, intellectual disability, hypodontia, hypotrichosis|ectodermal dysplasia, Berlin type|Berlin syndrome|LEUKOMELANODERMA, infantilism, mental retardation, hypodontia, hypotrichosis UMLS:C1855504|OMIM:246500|MESH:C565440|UMLS:C0406729|Orphanet:1816|SCTID:239032007|ICD10:Q82.4 owl:Class MONDO:0014449 biolink:NamedThing congenital analbuminemia Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA). tmpaxzxjjyw_mondo_relaxed.owl ANALBA|analbuminemia GARD:0013056|UMLS:C4305253|SCTID:718721006|Orphanet:86816|ICD10:R77.0|NCIT:C124851|OMIM:616000 https://rarediseases.info.nih.gov/diseases/13056/congenital-analbuminemia owl:Class NCBITaxon:29907 biolink:NamedThing Sporothrix tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010655 biolink:NamedThing X-linked intellectual disability with marfanoid habitus The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems. tmpaxzxjjyw_mondo_relaxed.owl Lujan-Fryns syndrome|Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies|intellectual disability, X-linked, with Marfanoid habitus|mental retardation, X-linked, with Marfanoid habitus|Lujan syndrome|LUJAN-Fryns syndrome Orphanet:776|OMIM:309520|GARD:0003307|SCTID:422437002|MESH:C537724|OMIM:300676|ICD10:Q87.8 owl:Class UBERON:0001325 biolink:NamedThing muscle of pelvis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009408 biolink:NamedThing hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase tmpaxzxjjyw_mondo_relaxed.owl hyperuricemia, infantile, with abnormal behavior and normal hypoxanthine guanine phosphoribosyltransferase UMLS:C1855884|MESH:C565489|OMIM:240000 owl:Class MONDO:0020473 biolink:NamedThing dappled diaphyseal dysplasia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99645|ICD10:Q77.3|SCTID:389262009|ICD9:756.59|UMLS:C1300227 owl:Class MONDO:0009985 biolink:NamedThing retinohepatoendocrinologic syndrome Retinohepatoendocrinologic syndrome is characterized by total colorblindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females from two sibships with a high degree of consanguinity, and in a male from another family. tmpaxzxjjyw_mondo_relaxed.owl rhe syndrome|retinohepatoendocrinologic syndrome GARD:0004685|UMLS:C1849399|ICD10:Q87.8|SCTID:724000006|MESH:C564839|OMIM:268040|Orphanet:3087 https://rarediseases.info.nih.gov/diseases/4685/retinohepatoendocrinologic-syndrome owl:Class MONDO:0008072 biolink:NamedThing IgA nephropathy, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl Igan|nephritis, IgA type|berger disease|IgA nephropathy, susceptibility to, 1|glomerulonephritis, IgA|IGAN1 GARD:0000863|OMIM:161950 owl:Class NCBITaxon:186627 biolink:NamedThing Cypriniphysae tmpaxzxjjyw_mondo_relaxed.owl Cypriniphysi GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010577 biolink:NamedThing hearing loss, X-linked 1 tmpaxzxjjyw_mondo_relaxed.owl deafness, X-linked type 1|DFNX1|deafness, X-linked 1|deafness, X-linked 2, sensorineural congenital OMIM:304500|Orphanet:90625|MESH:C564433|UMLS:C1844677|DOID:0111739 owl:Class ENVO:01001813 biolink:NamedThing construction A material entity which has been assembled through the intentional, instinctual, or deliberately programmed efforts of an organism or machine. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016671 biolink:NamedThing sickle cell-hemoglobin E disease syndrome tmpaxzxjjyw_mondo_relaxed.owl HbSE disease UMLS:C0272085|Orphanet:251375|ICD10:D57.2 owl:Class MONDO:0005258 biolink:NamedThing autism spectrum disorder A spectrum of developmental disorders that includes autism, and Asperger syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors. tmpaxzxjjyw_mondo_relaxed.owl PDD|pervasive developmental disorders|atypical autism|autism spectrum disorder|pervasive developmental disorder - not otherwise specified|autistic spectrum disorder NCIT:C88412|SCTID:408856003|EFO:0003759|Orphanet:106|OMIM:209850|EFO:0003756|DOID:0060041 owl:Class HGNC:19237 biolink:NamedThing NANS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032755 biolink:NamedThing neurodevelopmental disorder with or without variable brain abnormalities; NEDBA tmpaxzxjjyw_mondo_relaxed.owl NEDBA|NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES OMIM:618443 owl:Class GO:1905505 biolink:NamedThing positive regulation of motile cilium assembly Any process that activates or increases the frequency, rate or extent of motile cilium assembly. tmpaxzxjjyw_mondo_relaxed.owl activation of motile primary cilia formation|up regulation of motile primary cilia formation|positive regulation of motile primary cilium formation|activation of motile primary cilium assembly|activation of motile primary cilia assembly|upregulation of nodal cilium assembly|activation of nodal cilium formation|upregulation of motile primary cilium assembly|upregulation of nodal cilium formation|up regulation of motile primary cilium assembly|positive regulation of nodal cilium formation|activation of nodal cilium assembly|up-regulation of motile primary cilia assembly|activation of motile primary cilium formation|up-regulation of motile primary cilium assembly|positive regulation of nodal cilium assembly|up regulation of nodal cilium formation|upregulation of motile primary cilia assembly|upregulation of motile primary cilia formation|positive regulation of motile primary cilia assembly|up-regulation of nodal cilium assembly|up regulation of nodal cilium assembly|up regulation of motile primary cilium formation|positive regulation of motile primary cilia formation|positive regulation of motile primary cilium assembly|up-regulation of nodal cilium formation|up-regulation of motile primary cilium formation|upregulation of motile primary cilium formation|up regulation of motile primary cilia assembly|up-regulation of motile primary cilia formation owl:Class MONDO:0007304 biolink:NamedThing cervical vertebral Bridge tmpaxzxjjyw_mondo_relaxed.owl cervical vertebral Bridge OMIM:118000 owl:Class NCBITaxon:2560547 biolink:NamedThing La Crosse orthobunyavirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018318 biolink:NamedThing disorder of asparagine metabolism tmpaxzxjjyw_mondo_relaxed.owl Orphanet:391381|UMLS:CN227320 owl:Class NCBITaxon:6334 biolink:NamedThing Trichinella spiralis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5598 biolink:NamedThing Alternaria tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:24014900 NCBITaxon:645883 ncbi_taxonomy owl:Class HGNC:3341 biolink:NamedThing EMX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019359 biolink:NamedThing Rocky mountain spotted fever Rocky Mountain spotted fever refers to an infection caused by the bacterium Rickettsia rickettsia. This particular bacterium is carried by certain species of ticks and spread to humans through the bites of infected ticks. Signs and symptoms of the condition generally develop approximately 2 to 14 days following the tick bite and may include fever, rash, headache, muscle pain, chills, and/or confusion. Some affected people may also experience diarrhea, nausea, vomiting, light sensitivity, hallucinations, and/or excessive thirst. Most cases occur in the spring and summer and are found in children. Risk factors for developing the conditioninclude recent hiking or exposure to ticks in an area where the disease is known to occur. Rocky Mountain spotted fever is typically treated with antibiotics (such as doxycycline or tetracycline). tmpaxzxjjyw_mondo_relaxed.owl RMSF|Fiebre maculosa|Tick typhus|sao Paulo typhus|exanthematic typhus of sao Paulo|So Paulo fever|Fiebre manchada|Tobia fever|Choix|Brazillian spotted MESH:D012373|Orphanet:83311|MedDRA:10039207|NCIT:C128410|DOID:0050052|GARD:0007585|SCTID:186772009|UMLS:C0035793|ICD10:A77.0 https://rarediseases.info.nih.gov/diseases/7585/rocky-mountain-spotted-fever owl:Class MONDO:0030979 biolink:NamedThing endove syndrome, limb-brain type tmpaxzxjjyw_mondo_relaxed.owl ENDOVESLB|Mesomelia of Lower Extremities With Hand, Foot, and Brain Anomalies OMIM:619218 owl:Class MONDO:0008945 biolink:NamedThing myoclonic cerebellar dyssynergia A condition marked by progressive cerebellar ataxia combined with myoclonus usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal seizures, spasticity, and dyskinesias. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the cerebellum are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1) tmpaxzxjjyw_mondo_relaxed.owl progressive cerebellar tremor|Ramsay Hunt syndrome type 1|CPD5|dyssynergia cerebellaris myoclonica of Hunt|cerebelloparenchymal disorder 5|Spinodentate atrophy|cerebelloparenchymal disorder V|cerebelloparenchymal disorder type 5|Ramsay Hunt cerebellar syndrome|dyssynergia cerebellaris myoclonica OMIM:213400|MESH:D002527|SCTID:73495003|UMLS:C0007761|ICD10:G11.1|EFO:1001053|DOID:12707 owl:Class NCBITaxon:337963 biolink:NamedThing Neotominae tmpaxzxjjyw_mondo_relaxed.owl PMID:15371245|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001514 biolink:NamedThing prolapse of urethra Prolapse of the urethral mucosa from the exterior urethral opening. tmpaxzxjjyw_mondo_relaxed.owl urethrocele SCTID:12068006|UMLS:C0238502|DOID:12369|ICD10:N81.0|NCIT:C123256|ICD9:599.5|ICD9:618.03 owl:Class MONDO:0004370 biolink:NamedThing sphenocavernous meningioma A meningioma that affects the sphenocavernous region. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5313|DOID:7820|UMLS:C1336036 owl:Class UBERON:0003445 biolink:NamedThing pes nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054581 biolink:NamedThing Townes-Brocks syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl rear syndrome|anus, imperforate, with hand, Foot, and Ear anomalies|renal-ear-anal-radial syndrome|Townes-Brocks syndrome 1|Townes-Brocks-branchiootorenal-like syndrome|deafness, sensorineural, with imperforate anus and thumb anomalies|TBS1 OMIM:107480 owl:Class MONDO:0010287 biolink:NamedThing hereditary spastic paraplegia 16 A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia 16, X-linked|X-linked spastic paraplegia 16|X-linked spastic paraplegia type 16|SPG16|spastic paraplegia 16|hereditary spastic paraplegia type 16 UMLS:C1846046|ICD10:G11.4|GARD:0009585|MESH:C536643|OMIM:300266|Orphanet:100997|DOID:0110769 owl:Class CL:1000432 biolink:NamedThing conjunctival epithelial cell An epithelial cell that is part of the conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl epithelial cell of conjunctiva FMA:70552 cell owl:Class MONDO:0017018 biolink:NamedThing isolated pulmonary capillaritis Isolated pauciimmune pulmonary capillaritis is a small vessel vasculitis restricted to the lungs that may induce diffuse alveolar hemorrhage with dyspnea, anemia, chest pain, hemoptysis, bilateral and diffuse alveolar infiltrates at chest X-rays, without any underlying systemic disease. ANCA are frequently positive but could be negative. tmpaxzxjjyw_mondo_relaxed.owl SCTID:707436001|ICD9:448.9|UMLS:C3873357|Orphanet:264691 owl:Class GO:0002277 biolink:NamedThing myeloid dendritic cell activation involved in immune response The change in morphology and behavior of a myeloid dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. tmpaxzxjjyw_mondo_relaxed.owl myeloid dendritic cell activation during immune response owl:Class HGNC:951 biolink:NamedThing NKX3-2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01000888 biolink:NamedThing area of gramanoid or herbaceous vegetation An area of a planet's surface which is primarily covered by gramanoid or herbaceous vegetation and which is not subject to intensive management by humans. This area is in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0001035 biolink:NamedThing bone cell A connective tissue cell found in bone. tmpaxzxjjyw_mondo_relaxed.owl adiehl 2011-11-16T04:28:16Z cell owl:Class MONDO:0007056 biolink:NamedThing acroosteolysis A condition that is characterized by degeneration of the distal phalanges. tmpaxzxjjyw_mondo_relaxed.owl acroosteolysis Orphanet:955|MESH:D030981|SCTID:27201004|OMIM:102400|NCIT:C35545 owl:Class MONDO:0002511 biolink:NamedThing stenosis of lacrimal sac tmpaxzxjjyw_mondo_relaxed.owl DOID:3096|ICD10:H04.579|ICD9:375.54|ICD10:H04.57|SCTID:11772001 owl:Class GO:1903046 biolink:NamedThing meiotic cell cycle process A process that is part of the meiotic cell cycle. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020763 biolink:NamedThing Menke-Hennekam syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl Menke-Hennekam syndrome 1|MKHK1 OMIM:618332 owl:Class MONDO:0013962 biolink:NamedThing hereditary spastic paraplegia 53 A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A. tmpaxzxjjyw_mondo_relaxed.owl SPG53|autosomal recessive spastic paraplegia type 53|autosomal recessive spastic paraplegia 53|hereditary spastic paraplegia type 53|hereditary spastic paraplegia 53|spastic paraplegia 53, autosomal recessive|VPS37A autosomal recessive complex spastic paraplegia|autosomal recessive complex spastic paraplegia caused by mutation in VPS37A Orphanet:319199|UMLS:C3539494|UMLS:C4510082|SCTID:723823004|OMIM:614898|DOID:0110805|ICD10:G11.4 owl:Class HGNC:84 biolink:NamedThing ACACA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005809 biolink:NamedThing infectious ectromelia A viral infection of mice, causing edema and necrosis followed by limb loss. tmpaxzxjjyw_mondo_relaxed.owl MESH:D004482|EFO:0007325|UMLS:C0013591 owl:Class MONDO:0016545 biolink:NamedThing leukoencephalopathy-palmoplantar keratoderma syndrome Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. tmpaxzxjjyw_mondo_relaxed.owl leukoencephalopathy palmoplantar keratoderma UMLS:CN201627|GARD:0003232|Orphanet:2386 https://rarediseases.info.nih.gov/diseases/3232/leukoencephalopathy-palmoplantar-keratoderma owl:Class MONDO:0012119 biolink:NamedThing asperger syndrome, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl ASPG3|ASPERGER syndrome, susceptibility to, 3 OMIM:608781|UMLS:C1837434 owl:Class MONDO:0022337 biolink:NamedThing AIDS dysmorphic syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0005765 https://rarediseases.info.nih.gov/diseases/5765/aids-dysmorphic-syndrome owl:Class UBERON:0005184 biolink:NamedThing hair medulla tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018261 biolink:NamedThing Nevada syndrome NEVADA (Nevus Epidermicus Verrucosus with AngioDysplasia and Aneurysms) syndrome is a rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period. tmpaxzxjjyw_mondo_relaxed.owl Nevus epidermicus verrucosus with angiodysplasia and aneurysms Orphanet:370059|ICD10:Q84.8|UMLS:CN204836 owl:Class MONDO:0043370 biolink:NamedThing secondary adrenal insufficiency A hormonal disorder that occurs when lack of corticotropin-releasing hormone (CRH) secretion from the hypothalamus or adrenocorticotropic hormone (ACTH) secretion from the pituitary is responsible for hypofunction of the adrenal cortex. tmpaxzxjjyw_mondo_relaxed.owl secondary adrenal insufficiency|secondary hypocortisolism|central Hypoadrenalism|secondary adrenocortical insufficiency|central adrenal insufficiency|hypocortisolism secondary to another disorder UMLS:C0271738|GARD:0012735|NCIT:C62602|UMLS:C0948387|SCTID:16685009 owl:Class MONDO:0001313 biolink:NamedThing acute allergic serous otitis media A acute serous otitis media caused by an allergen. tmpaxzxjjyw_mondo_relaxed.owl ICD9:381.04|SCTID:59275002|DOID:11558|UMLS:C0155418 owl:Class HGNC:29659 biolink:NamedThing MESP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009520 biolink:NamedThing 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaric aciduria (3HMG) is an organic aciduria, due to deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase (a key enzyme in ketogenesis and leucine metabolism) usually presenting in infancy with episodes of metabolic decompensation triggered by periods of fasting or infections, which when left untreated are life-threatening and may lead to neurological sequelae. tmpaxzxjjyw_mondo_relaxed.owl deficiency of hydroxymethylglutaryl-CoA lyase|HMGCLD|Hydroxymethylglutaric aciduria|HL deficiency|HMG CoA lyase deficiency|Hmgcl deficiency|3-hydroxy-3-methylglutaryl-CoA lyase deficiency|defect in leucine metabolism|HMG-CoA lyase deficiency|hydroxymethylglutaryl-CoA lyase deficiency|HMG-Coa lyase deficiency|3-hydroxy-3-methylglutaric aciduria|3-OH 3-Methyl glutaric aciduria SCTID:410059004|UMLS:C0268601|OMIM:246450|UMLS:C1533587|Orphanet:20|NCIT:C84523|ICD10:E71.1|GARD:0008387|MESH:C538324 owl:Class MONDO:0014616 biolink:NamedThing Skint1-like pseudogene tmpaxzxjjyw_mondo_relaxed.owl SKINTL|Skint1-like pseudogene|Skint1L|SKINT1-like pseudogene|Skintp OMIM:616392 owl:Class MONDO:0019799 biolink:NamedThing hepatoerythropoietic porphyria Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria characterized by bullous photodermatitis. tmpaxzxjjyw_mondo_relaxed.owl hep ICD10:E80.2|Orphanet:95159|UMLS:C0162569|SCTID:111386004|DOID:5230|NCIT:C84754|OMIM:176100|GARD:0006169|MESH:D017121 owl:Class MONDO:0007554 biolink:NamedThing generalized epidermolysis bullosa simplex, non-Dowling-Meara type Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Kobner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction. tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa simplex, generalized non-Dowling-Meara|EBS, generalized intermediate|generalized EBS, non-Dowling-Meara type|generalized EBS|epidermolysis bullosa simplex, Kobner type|EBS-K|epidermolysis bullosa simplex, Köbner type|epidermolysis bullosa simplex, generalized|epidermolysis bullosa simplex, generalized intermediate|epidermolysis bullosa simplex, Koebner type|EBS, generalized SCTID:90496008|GARD:0002147|ICD10:Q81.0|OMIM:131900|ICD9:757.39|Orphanet:79399 owl:Class MONDO:0012889 biolink:NamedThing sarcoidosis, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl sarcoidosis, susceptibility to, 3|SS3 Orphanet:797|OMIM:612388 owl:Class HGNC:7146 biolink:NamedThing TRPM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013272 biolink:NamedThing chromosome 14q11-q22 deletion syndrome 14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl monosomy 14q11.2|14q11.2 microdeletion syndrome|Del(14)(q11.2)|chromosome 14q11-q22 deletion syndrome OMIM:613457|DOID:0060392|ICD10:Q93.5|UMLS:C4304999|SCTID:719047001|Orphanet:261120|UMLS:C3150707 owl:Class MONDO:0008435 biolink:NamedThing Somatomedin, embryonic tmpaxzxjjyw_mondo_relaxed.owl Somatomedin, embryonic OMIM:182400 owl:Class MONDO:0007513 biolink:NamedThing ectodermal dysplasia with adrenal cyst tmpaxzxjjyw_mondo_relaxed.owl Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome|ectodermal dysplasia with adrenal cyst OMIM:129550|UMLS:C1851850|MESH:C538015|Orphanet:3391 owl:Class MONDO:0010675 biolink:NamedThing muscular dystrophy, cardiac type tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, cardiac type OMIM:309930|UMLS:C1442927|MESH:C563247 owl:Class GO:0140631 biolink:NamedThing aldehyde dehydrogenase (NAD+) inhibitor activity Binds to and stops, prevents or reduces the activity of aldehyde dehydrogenase (NAD+). tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0099003 biolink:NamedThing vesicle-mediated transport in synapse Any vesicle-mediated transport that occurs in a synapse. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009741 biolink:NamedThing neuroblastoma, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl susceptibility to neuroblastoma|neuroblastoma, susceptibility to, 1|neuroblastoma, susceptibility to OMIM:256700|UMLS:C0027819|Orphanet:635 owl:Class GO:0016614 biolink:NamedThing oxidoreductase activity, acting on CH-OH group of donors Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group act as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase activity, acting on the CH-OH group of donors, other acceptors owl:Class MONDO:0054726 biolink:NamedThing spermatogenic failure 22 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 22|SPGF22 DOID:0070177|OMIM:617706 owl:Class UBERON:0011821 biolink:NamedThing irregular connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011883 biolink:NamedThing Curly hair - acral keratoderma - caries syndrome Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. tmpaxzxjjyw_mondo_relaxed.owl Chac syndrome|CHACS|Curly hair - acral keratoderma - caries syndrome|Chacs Orphanet:307766|OMIM:607656|MESH:C536220|ICD10:Q82.8|GARD:0010163 https://rarediseases.info.nih.gov/diseases/10163/curly-hair-acral-keratoderma-caries-syndrome owl:Class MONDO:0012875 biolink:NamedThing inflammatory bowel disease 21 An inflammatory bowel disease that has material basis in variation in the chromosome region 18p11. tmpaxzxjjyw_mondo_relaxed.owl inflammatory bowel disease type 21|IBD21|inflammatory bowel disease 21 DOID:0110906|MESH:C567338|UMLS:C2676507|OMIM:612354 owl:Class MONDO:0060712 biolink:NamedThing developmental delay, intellectual disability, obesity, and dysmorphic features tmpaxzxjjyw_mondo_relaxed.owl DIDOD|developmental delay, INTELLECTUAL disability, obesity, and DYSMORPHIC features OMIM:617991|UMLS:CN248510 owl:Class MONDO:0100393 biolink:NamedThing acute myeloid leukemia, t(8;16) Any acute myeloid leukemia that has the chromosomal anomaly t(8;16). (A cytogenetic abnormality that involves a translocation between chromosomes 8 and 16.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(8;16) NCIT:C175583 owl:Class MONDO:0002620 biolink:NamedThing localized osteosarcoma A non-disseminated osteosarcoma. tmpaxzxjjyw_mondo_relaxed.owl localized osteogenic sarcoma|osteosarcoma, localized|localized osteosarcoma DOID:3356|NCIT:C7780|UMLS:C0278511 owl:Class HGNC:14203 biolink:NamedThing JPH3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011600 biolink:NamedThing congenital myasthenic syndrome 4A A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. tmpaxzxjjyw_mondo_relaxed.owl Cms Ia1, formerly|CMS Ia1|congenital myasthenic syndrome type Ia1, formerly|myasthenic syndrome, congenital, 4A, slow-channel|congenital myasthenic syndrome type Ia1|congenital myasthenic syndrome type 4A|CMS4A|Cms Ia1|congenital myasthenic syndrometype Ia1|congenital myasthenic syndrome 4A slow-channel|CMS1A1 OMIM:605809|Orphanet:590|DOID:0110678|UMLS:C1853949 owl:Class MONDO:0001733 biolink:NamedThing occlusion of tributary of retinal vein tmpaxzxjjyw_mondo_relaxed.owl venous tributary branch occlusion of retina|venous tributary occlusion of retina|venous tributary (branch) occlusion of retina DOID:13514|ICD9:362.36 owl:Class MONDO:0054601 biolink:NamedThing pituitary adenoma 5, multiple types tmpaxzxjjyw_mondo_relaxed.owl PITA5|pituitary adenoma 5, multiple types UMLS:C4539685|OMIM:617540 owl:Class MONDO:0007993 biolink:NamedThing microgastria-limb reduction defect syndrome This syndrome is characterised by the association of microgastria with a limb reduction defect. tmpaxzxjjyw_mondo_relaxed.owl microgastria-limb reduction defects association|MLRD|congenital microgastria and limb reduction defects|microgastria limb reduction defect OMIM:156810|Orphanet:2538|UMLS:C1834929|MESH:C537554|ICD10:Q87.8|GARD:0003640 owl:Class MONDO:0016272 biolink:NamedThing transitional cell carcinoma of the corpus uteri A transitional cell carcinoma that involves the body of uterus. tmpaxzxjjyw_mondo_relaxed.owl endometrial transitional cell carcinoma|body of uterus transitional cell carcinoma ICD10:C54.1|Orphanet:213746 owl:Class MONDO:0006115 biolink:NamedThing blast phase chronic myelogenous leukemia, BCR-ABL1 positive An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001). tmpaxzxjjyw_mondo_relaxed.owl blast crisis|blast phase chronic granulocytic leukemia|blastic phase chronic myeloid leukemia|phase, blast|blast phase|blast crises|blastic phase chronic myelocytic leukemia|phases, blast|blastic phase chronic myelogenous leukemia|blastic phase chronic granulocytic leukemia|blast phase chronic myelogenous leukemia|blast phase CML|blast phase chronic myeloid leukemia|blast phases|blast phase chronic myelocytic leukemia|crisis, blast|blastic phase CML|crises, blast UMLS:C0005699|NCIT:C9110|EFO:1000131|SCTID:413656006|MESH:D001752 owl:Class MONDO:0003556 biolink:NamedThing endometrial adenosquamous carcinoma A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components. tmpaxzxjjyw_mondo_relaxed.owl endometrium adenosquamous carcinoma|adenosquamous carcinoma of endometrium|endometrial adenosquamous cancer|endometrial adenosquamous carcinoma|adenosquamous carcinoma of the endometrium GARD:0013107|EFO:1001952|NCIT:C114656|DOID:5631|UMLS:C3896969 owl:Class UBERON:0001641 biolink:NamedThing transverse sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005160 biolink:NamedThing vestigial structure tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:23785 biolink:NamedThing PIKFYVE tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19747 biolink:NamedThing EVC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:35325 biolink:NamedThing dsRNA viruses tmpaxzxjjyw_mondo_relaxed.owl dsRNA nonenveloped viruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016380 biolink:NamedThing acquired hypertrichosis lanuginosa Acquired hypertrichosis lanuginosa is a rare cutaneous paraneoplastic disease characterized by the presence of excessive lanugo-type hair on the glabrous skin of face, neck, trunk and limbs that can be associated with additional clinical features such as burning glossitis, papillary hypertrophy of the tongue, diarrhea, dysgeusia, and/or weight loss. It is associated with lymphoma or cancer of the gastrointestinal system, urinary tract, lung, breast, uterus or ovary. tmpaxzxjjyw_mondo_relaxed.owl hypertrichosis lanuginosa, acquired Orphanet:2221|GARD:0002864|SCTID:25967007|ICD10:L68.1|UMLS:CN201274 https://rarediseases.info.nih.gov/diseases/2864/hypertrichosis-lanuginosa-acquired owl:Class MONDO:0003955 biolink:NamedThing juvenile breast papillomatosis A benign, usually solitary, well circumscribed multicystic neoplasm that arises from the breast and typically affects young females. The cysts are lined by papillary proliferations that contain epithelial and myoepithelial layers. In a minority of cases, atypia may be present. tmpaxzxjjyw_mondo_relaxed.owl juvenile breast papillomatosis|juvenile papillomatosis of breast|juvenile papillomatosis of the breast|breast juvenile papillomatosis|Swiss cheese disease UMLS:C1334303|SCTID:708518001|NCIT:C9503|DOID:6641 owl:Class MONDO:0008911 biolink:NamedThing cardiac lipidosis, familial tmpaxzxjjyw_mondo_relaxed.owl cardiac lipidosis, familial UMLS:C1859332|Orphanet:137675|OMIM:212080|MESH:C565884 owl:Class HP:0002475 biolink:NamedThing Myelomeningocele Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. tmpaxzxjjyw_mondo_relaxed.owl Spina bifida cystica|Meningomyelocele SNOMEDCT_US:414667000|UMLS:C0025312|MSH:D008591|SNOMEDCT_US:203994003|Fyler:4309 Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits. human_phenotype owl:Class HGNC:9912 biolink:NamedThing RBMY1A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007448 biolink:NamedThing familial dermatographia Familial dermographism is a condition also known as skin writing. When people who have dermatographia lightly scratch their skin, the scratches redden into a raised wheal similar to hives. Signs and symptoms of dermatographia include raised red lines, swelling, inflammation, hive-like welts and itching. Symptoms usually disappear within 30 minutes. The exact cause of this condition is unknown. Treatment mayinvovle use of antihistamines if symptoms do not go away on their own. tmpaxzxjjyw_mondo_relaxed.owl dermatographic urticaria|familial dermographism|dermatographia|Dermodistortive urticaria|VBU|dermographism, familial|Dermatographism, familial|vibratory urticaria|vibratory angioedema|DDU|dermo-distortive urticaria|dermographism|familial dermatographism DOID:743|SCTID:7632005|OMIM:125635|MESH:C536612|GARD:0009480|ICD9:708.3|SCTID:402601007|ICD10:L50.3|EFO:1000685|NCIT:C111885 https://rarediseases.info.nih.gov/diseases/9480/familial-dermographism owl:Class GO:0042489 biolink:NamedThing negative regulation of odontogenesis of dentin-containing tooth Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of odontogenesis of dentine-containing tooth|inhibition of odontogenesis|negative regulation of odontogenesis|negative regulation of odontogenesis of dentine-containing teeth|down-regulation of odontogenesis|downregulation of odontogenesis|down regulation of odontogenesis owl:Class GO:0004807 biolink:NamedThing triose-phosphate isomerase activity Catalysis of the reaction: D-glyceraldehyde 3-phosphate = glycerone phosphate. tmpaxzxjjyw_mondo_relaxed.owl triose phosphoisomerase activity|D-glyceraldehyde-3-phosphate aldose-ketose-isomerase activity|D-glyceraldehyde-3-phosphate ketol-isomerase activity|triosephosphate mutase activity|triosephosphate isomerase activity|phosphotriose isomerase activity|triose phosphate mutase activity owl:Class UBERON:0010565 biolink:NamedThing manual digit 1 metacarpus pre-cartilage condensation tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001635 biolink:NamedThing bladder squamous papilloma A rare, benign neoplasm of bladder that is composed of papillary cores with overlying histologically benign squamous epithelium. tmpaxzxjjyw_mondo_relaxed.owl bladder squamous papilloma DOID:13110|NCIT:C39834|UMLS:C1511199 owl:Class MONDO:0018447 biolink:NamedThing chondromyxoid fibroma An uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. tmpaxzxjjyw_mondo_relaxed.owl Chondromyxoid fibroma ICD10:D16.9|EFO:0000332|Orphanet:404507|UMLS:C0221290|ICDO:9241/0|NCIT:C3830 owl:Class HGNC:21042 biolink:NamedThing NUS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0700004 biolink:NamedThing idiopathic vs non-idiopathic A disease characteristic in which the cause of the disease is known or unknown. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class HGNC:25221 biolink:NamedThing MMADHC tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6953 biolink:NamedThing CD46 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004574 biolink:NamedThing pyridoxine deficiency anemia Deficiency of vitamin B6. It is usually caused by alcoholism, malabsorption, or as a side effect of medications. Signs and symptoms include stomatitis, glossitis, dermatitis, peripheral neuropathy, irritability, seizures, and anemia. tmpaxzxjjyw_mondo_relaxed.owl B6 vitamin deficiencies|B6 deficiencies, vitamin|vitamin deficiencies, B6|deficiencies, B6 vitamin|deficiency, pyridoxine|vitamin B6 deficiency syndrome|pyridoxine Deficincy|deficiency, B6 vitamin|pyridoxine deficiency|vitamin B6 deficiency|B6 vitamin deficiency|vitamin deficiency, B6|deficiency, vitamin B 6|B6 deficiency, vitamin|deficiency, vitamin B6|vitamin B6 deficiencies|deficiencies, vitamin B6 MESH:D026681|SCTID:86448001|ICD9:266.1|DOID:8455|NCIT:C85221|ICD10:E53.1|ICD9:281.8|GARD:0004616 owl:Class MONDO:0042976 biolink:NamedThing vitamin B deficiency A condition due to deficiency in any member of the vitamin B complex. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat. tmpaxzxjjyw_mondo_relaxed.owl deficiencies, vitamin B|vitamin B deficiencies|deficiency, vitamin B UMLS:C0042850|NCIT:C35129|MESH:D014804|SCTID:47903000 owl:Class MONDO:0013548 biolink:NamedThing acetyl-CoA acetyltransferase-2 deficiency tmpaxzxjjyw_mondo_relaxed.owl acetoacetyl CoA thiolase, cytosolic|Acetyl CoA acetyltransferase 2 deficiency|ACAT2|ACAT2D|ACETYL-CoA acetyltransferase-2 deficiency|acetyl-CoA acetyltransferase-2 deficiency|Acat2 deficiency|Acetocoenzyme A acetyltransferase 2 UMLS:C0342735|MESH:C536005|GARD:0009154|OMIM:614055 https://rarediseases.info.nih.gov/diseases/9154/acetyl-coa-acetyltransferase-2-deficiency owl:Class GO:0098642 biolink:NamedThing network-forming collagen trimer A collagen trimer that forms networks. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11391 biolink:NamedThing AURKC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019018 biolink:NamedThing Tako-tsubo cardiomyopathy Takotsubo cardiomyopathy (TC) is a recently described acute cardiac syndrome that mimics acute myocardial infarction and is characterized by ischemic chest symptoms, an elevated ST segment on electrocardiogram, and elevated levels of cardiac disease markers. tmpaxzxjjyw_mondo_relaxed.owl Takotsubo syndrome|ballooning cardiomyopathy|stress-induced cardiomyopathy|stress cardiomyopathy|ASC|Tako tsubo syndrome|ampulla cardiomyopathy|Takotsubo cardiomyopathy|Tako-Tsubo syndrome|apical ballooning syndrome|broken-heart syndrome|acute stress cardiomyopathy|broken heart syndrome|transient antero-apical dyskinesia|transient left ventricular apical ballooning syndrome|left ventricular transient apical ballooning GARD:0009400|ICD10:I42.8|SCTID:441541008|Orphanet:66529|EFO:1002000|MESH:D054549|UMLS:C1739395|NCIT:C85181|ICD9:429.83|UMLS:CN205479 owl:Class MONDO:0001903 biolink:NamedThing calcific tendinitis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0521515|ICD10:M65.2|SCTID:95414005|ICD10:M75.3|DOID:14181|ICD9:726.11 owl:Class MONDO:0007760 biolink:NamedThing hyperlipoproteinemia, type II, and deafness tmpaxzxjjyw_mondo_relaxed.owl hyperlipoproteinemia, type II, and deafness MESH:C564170|UMLS:C1840425|OMIM:144300 owl:Class MONDO:0100441 biolink:NamedThing GUCY2D-related dominant retinopathy A retinopathy caused by a heterozygous gain of function or dominant-negative variant or in the GUCY2D gene. tmpaxzxjjyw_mondo_relaxed.owl CORD6|cone-rod dystrophy caused by mutation in GUCY2D|cone-rod dystrophy type 6|GUCY2D central areolar choroidal dystrophy|choroidal dystrophy, central areolar, 1|CACD1|RCD2|choroidal sclerosis|cone-rod dystrophy 6|central areolar choroidal dystrophy caused by mutation in GUCY2D|GUCY2D cone-rod dystrophy|retinal cone dystrophy 2|dominant GUCY2D retinopathy|choroidal dystrophy, central areolar owl:Class MONDO:0019398 biolink:NamedThing desmin-related myopathy with Mallory body-like inclusions tmpaxzxjjyw_mondo_relaxed.owl early-onset desmin-related myopathy OMIM:602771|ICD10:G71.8|Orphanet:84132 owl:Class MONDO:0011702 biolink:NamedThing dilated cardiomyopathy 1L Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SGCD gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, 1L|familial isolated dilated cardiomyopathy caused by mutation in SGCD|dilated cardiomyopathy type 1L|SGCD familial isolated dilated cardiomyopathy|CMD1L|cardiomyopathy, dilated, type 1L DOID:0110436|ICD10:I42.0|UMLS:C1847667|MESH:C564679|OMIM:606685 owl:Class FOODON:03400164 biolink:NamedThing dairy product (us cfr) Milk, a product derived from milk, or a dairy product analog; includes cheese and frozen dairy desserts. [FDA CFSAN 1995] tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0164 http://langual.org owl:Class MONDO:0019160 biolink:NamedThing primary progressive freezing gait Primary progressive freezing gait is a rare, heterogeneous, progressively incapacitating neurodegenerative disease characterized by freezing of gait (usually during the first 3 years), later associating postural instability, eventually resulting in a wheelchair-bound state. Other features may include mild bradykinesia, rigidity, postural tremor, hyperreflexia, speech disorder and dementia. The disease is unresponsive to dopaminergic treatments. tmpaxzxjjyw_mondo_relaxed.owl PPFG UMLS:CN205712|UMLS:C4275078|Orphanet:75567|SCTID:715627004 owl:Class MONDO:0018263 biolink:NamedThing fetal carbamazepine syndrome A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies. In utero exposure to carbamazepine, in combination with valproate, has been associated with significant developmental delay (particularly affecting verbal intelligence) and a high rate of congenital anomalies. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:370076|SCTID:254249002|ICD9:760.8|UMLS:C0432370|UMLS:CN204839|ICD10:Q86.8 owl:Class HP:0000096 biolink:NamedThing Glomerular sclerosis Accumulation of scar tissue within the glomerulus. tmpaxzxjjyw_mondo_relaxed.owl Renal glomerular fibrosis|Glomerulosclerosis UMLS:C0178664|SNOMEDCT_US:197661001|SNOMEDCT_US:82646005 HP:0030761 human_phenotype owl:Class MONDO:0015838 biolink:NamedThing cordiform uterus tmpaxzxjjyw_mondo_relaxed.owl uterus cordiformis|uterus arcuatus SCTID:14689000|Orphanet:180118|ICD10:Q51.3 owl:Class MONDO:0020394 biolink:NamedThing tunnel subaortic stenosis tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q24.4|Orphanet:99053 owl:Class MONDO:0012177 biolink:NamedThing posterior column ataxia-retinitis pigmentosa syndrome Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa. tmpaxzxjjyw_mondo_relaxed.owl POSTERIOR column ataxia with retinitis pigmentosa|autosomal recessive posterior column ataxia and retinitis pigmentosa|PCARP|AXPC1|Pcarp OMIM:609033|MESH:C536343|UMLS:C1836916|Orphanet:88628|ICD10:G11.1|UMLS:C4510304|SCTID:724065003|GARD:0009898 owl:Class GO:1903335 biolink:NamedThing regulation of vacuolar transport Any process that modulates the frequency, rate or extent of vacuolar transport. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032793 biolink:NamedThing O'Donnell-Luria-Rodan syndrome tmpaxzxjjyw_mondo_relaxed.owl O'Donnell-Luria-Rodan syndrome|ODLURO OMIM:618512 owl:Class MONDO:0033368 biolink:NamedThing developmental and epileptic encephalopathy, 59 tmpaxzxjjyw_mondo_relaxed.owl infantile epileptic encephalopathy 59|epileptic encephalopathy, early infantile, 59|DEE59|EIEE59 UMLS:CN870853|OMIM:617904|DOID:0080291 owl:Class MONDO:0012957 biolink:NamedThing multiple sclerosis, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl MS3|multiple sclerosis, susceptibility to, 3 OMIM:612595 owl:Class HGNC:16243 biolink:NamedThing MYLK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0061983 biolink:NamedThing meiosis II cell cycle process A process that coontributes to the second meiotic division. The second meiotic division separates chromatids resulting in a haploid number of chromosomes. tmpaxzxjjyw_mondo_relaxed.owl second meiotic division owl:Class NCBITaxon:147553 biolink:NamedThing Pneumocystidomycetes tmpaxzxjjyw_mondo_relaxed.owl Archiascomycota GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032801 biolink:NamedThing erythrokeratodermia variabilis et progressiva 6 tmpaxzxjjyw_mondo_relaxed.owl EKVP6|ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 OMIM:618531 owl:Class HP:0000859 biolink:NamedThing Hyperaldosteronism Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. tmpaxzxjjyw_mondo_relaxed.owl Increased aldosterone production|Elevated plasma aldosterone|Increased aldosterone|Mineralocorticoid excess UMLS:C0020428|MSH:D006929|SNOMEDCT_US:88213004 HP:0004318|HP:0005975 human_phenotype owl:Class MONDO:0007719 biolink:NamedThing diaphragmatic hernia, congenital 1 tmpaxzxjjyw_mondo_relaxed.owl diaphragm, complete agenesis of|diaphragm, unilateral agenesis of|hernia, congenital diaphragmatic|DIH1|hemidiaphragm, agenesis of|diaphragmatic defect, congenital|diaphragmatic hernia 1|diaphragmatic hernia, congenital Orphanet:2140|UMLS:C0235833|OMIM:142340 owl:Class MONDO:0011550 biolink:NamedThing fibromatosis, gingival, with hypertrichosis and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl fibromatosis, gingival, with hypertrichosis and mental retardation|fibromatosis, gingival, with hypertrichosis and intellectual disability UMLS:C1854306|OMIM:605400|MESH:C565331 owl:Class MONDO:0018376 biolink:NamedThing secondary non-traumatic avascular necrosis tmpaxzxjjyw_mondo_relaxed.owl secondary non-traumatic AVN Orphanet:399180|ICD10:M87.3|ICD10:M87.1 owl:Class NCBITaxon:5597 biolink:NamedThing Scedosporium boydii tmpaxzxjjyw_mondo_relaxed.owl Allescheria boydii|Pseudallescheria boydii|Cephalosporium boydii GC_ID:1|PMID:18077629 ncbi_taxonomy owl:Class NCBITaxon:41687 biolink:NamedThing Scedosporium tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:66829 ncbi_taxonomy owl:Class CHEBI:51356 biolink:NamedThing penicillinate anion Any anion formed by loss of a proton from the carboxy group of a penicillin. tmpaxzxjjyw_mondo_relaxed.owl penicillin anions|penicillin|penicillin anion owl:Class CHEBI:47811 biolink:NamedThing penamcarboxylate tmpaxzxjjyw_mondo_relaxed.owl penamcarboxylates owl:Class MONDO:0010874 biolink:NamedThing enteropathy, familial, with villous edema and immunoglobulin G2 deficiency tmpaxzxjjyw_mondo_relaxed.owl enteropathy, familial, with villous edema and immunoglobulin G2 deficiency MESH:C563949|UMLS:C1838238|OMIM:600351 owl:Class MONDO:0100015 biolink:NamedThing adult-onset segmental dystonia tmpaxzxjjyw_mondo_relaxed.owl an adult-onset, focal or segmental, isolated dystonia that is characterized by cervical or cranial dystonia that often begins in the fourth decade (range 7-54 years).|DYT-GNAL 2018-05-25 20:41:39+00:00 owl:Class GO:0051704 biolink:NamedThing multi-organism process A biological process which involves another organism of the same or different species. tmpaxzxjjyw_mondo_relaxed.owl interaction between organisms|physiological interaction between organisms|physiological interaction with other organism owl:Class MONDO:0018152 biolink:NamedThing serpiginous choroiditis Serpiginous choroiditis is a rare inflammatory eye condition that typicallydevelops betweenage 30 and 70 years. Affected individuals have lesions in the eye thatlast from weeks to months and involve scarringof the eye tissue.Recurrence of these lesionsis common in serpiginous choroiditis. Vision loss may occurin one or both eyeswhen the macula is involved. Treatment options involve anti-inflammatory and immune-suppressing medications. tmpaxzxjjyw_mondo_relaxed.owl geographic choroiditis|geographic serpiginous choroiditis|geographic helicoid peripapillary choroidopathy (GHPC)|serpiginous choroidopathy|peripapillary choriopathy|geographic helicoid peripapillary choroidopathy ICD9:363.8|UMLS:C0729842|ICD10:H30.8|GARD:0000031|Orphanet:35686|SCTID:312491004 https://rarediseases.info.nih.gov/diseases/31/serpiginous-choroiditis owl:Class MONDO:0018812 biolink:NamedThing MSH3-related attenuated familial adenomatous polyposis tmpaxzxjjyw_mondo_relaxed.owl MSH3-related attenuated familial polyposis coli|MSH3-related attenuated familial adenomatous polyposis|MSH3-related AFAP|MSH3-related attenuated FAP Orphanet:480536|UMLS:CN776886 owl:Class MONDO:0022529 biolink:NamedThing BK-virus nephropathy tmpaxzxjjyw_mondo_relaxed.owl Polyomavirus nephropathy|nephropathy caused by BK polyomavirus|PVAN|nephropathy from BK virus|BKN|BK virus nephropathy|polyomavirus associated nephropathy|kidney disease caused by BK polyomavirus ICD9:079.89|DOID:0040086|UMLS:C1697878|GARD:0010470|SCTID:713886006 owl:Class MONDO:0025354 biolink:NamedThing spermatogenic failure, X-linked, 3 tmpaxzxjjyw_mondo_relaxed.owl SPGFX3|spermatogenic failure, X-linked, 3 OMIM:301059 owl:Class MONDO:0009356 biolink:NamedThing autosomal recessive humeroradial synostosis Autosomal recessive form of humeroradial synostosis (disease). tmpaxzxjjyw_mondo_relaxed.owl humeroradial synostosis|autosomal recessive humeroradial synostosis (disease)|humeroradial synostosis (disease), autosomal recessive|humeroradial/multiple synostosis syndrome Orphanet:3265|OMIM:236400 owl:Class GO:0055081 biolink:NamedThing anion homeostasis Any process involved in the maintenance of an internal steady state of anions within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100210 biolink:NamedThing growth hormone insensitivity syndrome with immune dysregulation tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:245590 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016832 biolink:NamedThing distal 7q11.23 microduplication syndrome Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. tmpaxzxjjyw_mondo_relaxed.owl Dup7q11.23D|distal trisomy 7q11.23|distal dup(7)(q11.23) UMLS:CN202160|ICD10:Q92.3|Orphanet:261102 owl:Class MONDO:0008448 biolink:NamedThing spheroid body myopathy Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations. tmpaxzxjjyw_mondo_relaxed.owl myopathy, spheroid body|autosomal dominant spheroid body myopathy DOID:0080091|ICD10:G71.8|OMIM:182920|MESH:C000598645|UMLS:C1866785|Orphanet:268129|GARD:0008711|SCTID:765092004 https://rarediseases.info.nih.gov/diseases/8711/spheroid-body-myopathy owl:Class MONDO:0019115 biolink:NamedThing obesity due to melanocortin 4 receptor deficiency Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function. tmpaxzxjjyw_mondo_relaxed.owl MC4R deficiency SCTID:717269008|NCIT:C120394|OMIM:601665|UMLS:C4273958|Orphanet:71529|ICD10:E66.8 owl:Class MONDO:0017497 biolink:NamedThing congenital absence of thigh and lower leg with foot present, bilateral tmpaxzxjjyw_mondo_relaxed.owl Femorotibiofibular intercalary transverse meromelia, bilateral ICD10:Q72.13|Orphanet:295091|ICD10:Q72.1 owl:Class HGNC:1582 biolink:NamedThing CCND1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16280 biolink:NamedThing TRIM36 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013204 biolink:NamedThing corneal dystrophy, Fuchs endothelial, 4 Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene. tmpaxzxjjyw_mondo_relaxed.owl FECD4|corneal dystrophy, Fuchs endothelial, 4|Fuchs' endothelial dystrophy caused by mutation in SLC4A11|corneal dystrophy, Fuchs endothelial, type 4|SLC4A11 Fuchs' endothelial dystrophy|corneal dystrophy, Fuchs endothelial, late-onset OMIM:613268|UMLS:C2750450|Orphanet:98974 owl:Class HGNC:3401 biolink:NamedThing EPHX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:22160 biolink:NamedThing acetamides Compounds with the general formula RNHC(=O)CH3. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011191 biolink:NamedThing capillary infantile hemangioma tmpaxzxjjyw_mondo_relaxed.owl hemangioma, capillary infantile|HCI|hemangioma, hereditary capillary OMIM:602089|Orphanet:91415|Orphanet:464293|MESH:C535860|UMLS:C1865871 Editor note: consider merging or making class explicitly for inherited forms. owl:Class MONDO:0044083 biolink:NamedThing alternariosis Opportunistic fungal infection by a member of Alternaria genus. tmpaxzxjjyw_mondo_relaxed.owl Alternariosis, cutaneous|subcutaneous Alternariosis|Alternarioses, subcutaneous|cutaneous alternariosis|Alternarioses, dermal|Alternariosis, dermal|dermal Alternariosis|cutaneous Alternarioses|cutaneous Alternariosis|Alternarioses, cutaneous|subcutaneous Alternarioses|dermal Alternarioses|Alternarioses|Alternariosis, subcutaneous MESH:D060487|EFO:1001893|SCTID:238436005 owl:Class MONDO:0600029 biolink:NamedThing restrictive pulmonary disease Decreased lung volume and inadequate ventilation due to parenchymal lung disorders (e.g., interstitial pulmonary fibrosis) or extrapulmonary disorders (e.g., scoliosis). Patients present with shortness of breath and cough. tmpaxzxjjyw_mondo_relaxed.owl restrictive lung disease|Restrictive lung disease (disorder) SCTID:36485005|ICD10CM:J98.4|NCIT:C91762|UMLS:C0085581 http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0021420 biolink:NamedThing polyp of vocal cord A non-neoplastic polypoid swelling of the vocal cord mucosa. It is usually unilateral and caused by excessive use of the voice. tmpaxzxjjyw_mondo_relaxed.owl polyp of the vocal cord|vocal cord polyp|laryngeal vocal fold polyp UMLS:C0042929|NCIT:C3440|SCTID:9078005 owl:Class MONDO:0004599 biolink:NamedThing barbiturate abuse A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. tmpaxzxjjyw_mondo_relaxed.owl ICD9:305.43|DOID:8519|SCTID:231462006 owl:Class MONDO:0032692 biolink:NamedThing Galloway-Mowat syndrome 7 tmpaxzxjjyw_mondo_relaxed.owl GAMOS7|GALLOWAY-MOWAT SYNDROME 7 OMIM:618348 owl:Class MONDO:0001177 biolink:NamedThing anorectal stricture tmpaxzxjjyw_mondo_relaxed.owl stenosis of rectum and anus SCTID:197216007|DOID:11014|ICD10:K62.4|ICD9:569.2 owl:Class CHEBI:26537 biolink:NamedThing retinoid Oxygenated derivatives of 3,7-dimethyl-1-(2,6,6-trimethylcyclohex-1-enyl)nona-1,3,5,7-tetraene and derivatives thereof. tmpaxzxjjyw_mondo_relaxed.owl retinoid|retinoids owl:Class MONDO:0024981 biolink:NamedThing rodent disease Diseases of rodents of the order rodentia. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs). tmpaxzxjjyw_mondo_relaxed.owl rodent disease|diseases, Rodent|disease, Rodent UMLS:C0035801|MESH:D012376 owl:Class MONDO:0001969 biolink:NamedThing mixed gonadal dysgenesis A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution. tmpaxzxjjyw_mondo_relaxed.owl gonadal dysgenesis mixed GARD:0002539|MESH:D006060|DOID:14449|UMLS:C0018055|SCTID:83579008 https://rarediseases.info.nih.gov/diseases/2539/gonadal-dysgenesis-mixed owl:Class MONDO:0041261 biolink:NamedThing disorder of acid-base balance tmpaxzxjjyw_mondo_relaxed.owl disorder of acid-base balance|disturbance of acid-base balance SCTID:26436007|UMLS:C0268029 owl:Class MONDO:0018922 biolink:NamedThing cold agglutinin disease Cold agglutinin disease is a type of autoimmune hemolytic anemia defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30B0C). tmpaxzxjjyw_mondo_relaxed.owl cold antibody disease|cold antibody hemolytic anemia|chronic cold agglutinin disease|cold agglutinin syndrome|CAD|CAS|anemia, hemolytic, cold antibody GARD:0006130|SCTID:127055007|UMLS:C1264008|ICD10:D59.1|UMLS:CN205305|Orphanet:56425 owl:Class MONDO:0020403 biolink:NamedThing congenital mitral valve agenesis Mitral valve agenesis is a rare congenital heart malformation defined as an agenesis or severe hypoplasia of both mitral valve leaflets (complete agenesis) or one of the leaflets (partial agenesis). Complete mitral valve agenesis presents in the neonatal period with symptoms of severe mitral regurgitation and is rapidly fatal unless surgically treated. It is frequently associated with other heart malformations. Partial mitral valve agenesis may present at various ages, usually with symptoms of mitral regurgitation. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99062|ICD10:Q23.3 owl:Class HP:0002652 biolink:NamedThing Skeletal dysplasia A general term describing features characterized by abnormal development of bones and connective tissues. tmpaxzxjjyw_mondo_relaxed.owl Abnormal skeletal development MSH:D010009|UMLS:C4280567|UMLS:C0029422|SNOMEDCT_US:105985007|SNOMEDCT_US:240190009 The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. HP:0005685 human_phenotype owl:Class MONDO:0016142 biolink:NamedThing qualitative or quantitative defects of beta-sarcoglycan tmpaxzxjjyw_mondo_relaxed.owl beta-sarcoglycanopathy GARD:0000870|UMLS:C2930900|MESH:C535435|HGNC:10806|Orphanet:207063 owl:Class HGNC:7133 biolink:NamedThing KMT2D tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019889 biolink:NamedThing distal trisomy 22q Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported. tmpaxzxjjyw_mondo_relaxed.owl distal duplication 22q|trisomy 22qter|distal trisomy type 22q|telomeric duplication 22q ICD10:Q92.3|Orphanet:96109|SCTID:764512003 owl:Class MONDO:0014338 biolink:NamedThing IL21-related infantile inflammatory bowel disease tmpaxzxjjyw_mondo_relaxed.owl IL21 deficiency|immunodeficiency, common variable, type 11|CVID11|IL21-related infantile IBD|immunodeficiency, common variable, 11 Orphanet:477661|Orphanet:238569|OMIM:615767|UMLS:C4014258 owl:Class HGNC:10535 biolink:NamedThing SAR1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019543 biolink:NamedThing acquired aneurysmal subarachnoid hemorrhage Acquired aneurysmal subarachnoid hemorrhage is a serious, life threatening rare neurologic disease characterized by a sudden rupture of an intracranial aneurysm into the subarachnoid space. It usually presents with a sudden, severe, excruciating headache accompanied by nausea, vomiting and syncope. Other features may include focal neurological signs, third and sixth nerve palsies, seizures and cardiac failure. Early complications include rebleeding, hydrocephalus, and seizures. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:90065|ICD10:I60.9|UMLS:CN206370 owl:Class SO:0000240 biolink:NamedThing chromosome_variation A deviation in chromosome structure or number. tmpaxzxjjyw_mondo_relaxed.owl chromosome variation owl:Class MONDO:0009204 biolink:NamedThing lethal faciocardiomelic dysplasia Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome. tmpaxzxjjyw_mondo_relaxed.owl faciocardiomelic dysplasia, lethal|faciocardiomelic dysplasia lethal Orphanet:1972|GARD:0002229|UMLS:C1856891|OMIM:227270|SCTID:719400000|ICD10:Q87.8|MESH:C565578 https://rarediseases.info.nih.gov/diseases/2229/faciocardiomelic-dysplasia-lethal owl:Class MONDO:0001915 biolink:NamedThing orbital cyst tmpaxzxjjyw_mondo_relaxed.owl orbit cyst UMLS:C0155285|ICD10:H05.81|HP:0001144|DOID:14233|SCTID:31021007|ICD9:376.81 Divided into cysts of surface epithelium, teratomatous cysts, neural cysts, secondary cysts, inflammatory cysts, and noncystic lesions with cystic component. Cysts of the surface epithelium are further divided into simple epithelial cyst (epidermal, conjunctival, respiratory, and apocrine gland), and dermoid cyst (epidermal and conjunctival) [PMID:15110666] owl:Class MONDO:0005476 biolink:NamedThing atrioventricular node disorder A disease involving the atrioventricular node. tmpaxzxjjyw_mondo_relaxed.owl disease of atrioventricular node|disease or disorder of atrioventricular node|atrioventricular node disease or disorder|atrioventricular node disease|disorder of atrioventricular node EFO:0005305 owl:Class MONDO:0008287 biolink:NamedThing Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. tmpaxzxjjyw_mondo_relaxed.owl Greig cephalopolysyndactyly syndrome|polysyndactyly with peculiar skull Shape|GCPS|Greig cephalosyndactyly syndrome|Greig's syndrome|polysyndactyly with peculiars skull shape|Greig syndrome MedDRA:10053878|ICD10:Q87.0|NCIT:C35255|SCTID:32985001|DOID:14761|UMLS:C0265306|GARD:0006550|MESH:C537300|Orphanet:380|OMIM:175700 https://rarediseases.info.nih.gov/diseases/6550/greig-cephalopolysyndactyly-syndrome owl:Class MONDO:0001882 biolink:NamedThing bacteriuria The presence of bacteria in the urine which is normally bacteria-free. These bacteria are from the urinary tract and are not contaminants of the surrounding tissues. Bacteriuria can be symptomatic or asymptomatic. Significant bacteriuria is an indicator of urinary tract infection. tmpaxzxjjyw_mondo_relaxed.owl bacteriuria (disease)|bacteriuria bacteriuria (disease) DOID:1412|MedDRA:10004056|HP:0012461|CSP:3045-9976|UMLS:C0004659|MESH:D001437 owl:Class MONDO:0008790 biolink:NamedThing anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism tmpaxzxjjyw_mondo_relaxed.owl anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism UMLS:C1859785|OMIM:206400|MESH:C565952 owl:Class MONDO:0013951 biolink:NamedThing peroxisome biogenesis disorder 12A (Zellweger) tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder 12A (Zellweger)|Cgj|Cg14|peroxisome biogenesis disorder, complementation group J|peroxisome biogenesis disorder, complementation group 14|PBD12A DOID:0080486|OMIM:614886|UMLS:C3554002 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0004541 biolink:NamedThing pseudoglandular variant testicular seminoma A morphologic variant of testicular seminoma characterized by the presence of seminoma cells arranged in pseudoglandular patterns and few lymphocytes. tmpaxzxjjyw_mondo_relaxed.owl testicular seminoma, pseudoglandular variant NCIT:C40958|DOID:8358|UMLS:C1515293 owl:Class MONDO:0013151 biolink:NamedThing choroidal dystrophy, central areolar, 3 tmpaxzxjjyw_mondo_relaxed.owl CACD3|choroidal dystrophy, central areolar, 3|choroidal dystrophy, central areolar, with or without drusen OMIM:613144|Orphanet:75377|UMLS:C2751055|MESH:C567729 owl:Class MONDO:0006811 biolink:NamedThing intracranial hypotension Reduction of cerebrospinal fluid pressure characterized clinically by headache which is maximal in an upright posture and occasionally by an abducens nerve palsy (see abducens nerve diseases), neck stiffness, hearing loss (see deafness); nausea; and other symptoms. This condition may be spontaneous or secondary to spinal puncture; neurosurgical procedures; dehydration; uremia; trauma (see also craniocerebral trauma); and other processes. Chronic hypotension may be associated with subdural hematomas (see hematoma, subdural) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8) tmpaxzxjjyw_mondo_relaxed.owl MESH:D019585|EFO:1000993|SCTID:433691000124104|ICD9:349.89|DOID:4723|MedDRA:10049977|UMLS:C0524812 owl:Class MONDO:0043199 biolink:NamedThing short limb dwarf lethal colavita kozlowski type tmpaxzxjjyw_mondo_relaxed.owl Colavita Kozlowski syndrome GARD:0004823|UMLS:C2931544|MESH:C537597 owl:Class MONDO:0015054 biolink:NamedThing hereditary angioedema type 2 Hereditary angioedema type 2 (HAE 2) is a form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpaxzxjjyw_mondo_relaxed.owl HAE-II|hereditary angioneurotic edema type 2|HAE 2 OMIM:106100|UMLS:C1862892|ICD10:D84.1|Orphanet:100051 owl:Class MONDO:0018423 biolink:NamedThing autosomal recessive spastic paraplegia type 71 tmpaxzxjjyw_mondo_relaxed.owl SPG71 ICD10:G11.4|Orphanet:401840|UMLS:CN226130 owl:Class CL:0010001 biolink:NamedThing stromal cell of bone marrow A stromal cell that is part_of a bone marrow. tmpaxzxjjyw_mondo_relaxed.owl bone marrow stromal cell GOC:cjm owl:Class MONDO:0032845 biolink:NamedThing spermatogenic failure 39 tmpaxzxjjyw_mondo_relaxed.owl SPERMATOGENIC FAILURE 39|SPGF39 OMIM:618643 owl:Class MONDO:0022913 biolink:NamedThing cutler bass Romshe syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001646 https://rarediseases.info.nih.gov/diseases/1646/cutler-bass-romshe-syndrome owl:Class MONDO:0001729 biolink:NamedThing active cochlear Meniere disease tmpaxzxjjyw_mondo_relaxed.owl active cochlear Meniere's disease|active cochlear Meniere disease|active Meniere's disease, cochlear|cochlear active Mnire's disease ICD9:386.02|UMLS:C0155497|SCTID:194349005|DOID:13492 owl:Class HGNC:6458 biolink:NamedThing KRT81 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020434 biolink:NamedThing atrial septal defect, ostium secundum type tmpaxzxjjyw_mondo_relaxed.owl ostium secundum atrial septal defect|ASD, ostium secundum type|ostium secundum ASD|osASD|ASD ostium secundum type Orphanet:99103|MedDRA:10031303|MedDRA:10031302|ICD10:Q21.1|GARD:0005865 owl:Class MONDO:0016723 biolink:NamedThing pineocytoma Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis. tmpaxzxjjyw_mondo_relaxed.owl Pineocytoma (WHO grade I)|benign pinealoma|pineocytoma (disease)|pineocytoma|pinealocytoma|pineocytoma, benign pineocytoma (disease) Orphanet:251912|MedDRA:10035059|NCIT:C6966|GARD:0008207|ICDO:9361/1|EFO:1000476|SCTID:255045009|ONCOTREE:PINC|ICD10:D44.5|UMLS:C0917890|HP:0030407 owl:Class MONDO:0017082 biolink:NamedThing basal encephalocele tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023176|ICD10:Q01.8|Orphanet:268829 owl:Class MONDO:0011724 biolink:NamedThing encephalopathy due to GLUT1 deficiency Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation. tmpaxzxjjyw_mondo_relaxed.owl glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included|glucose transporter type 1 deficiency syndrome|glut-1 deficiency syndrome|GLUT1 deficiency syndrome 1, autosomal recessive|GLUT1 deficiency syndrome type 1|glucose transporter type 1 deficiency|De Vivo disease|GLUT1DS1|glucose Transport defect, blood-brain barrier|glucose transporter type1 (glut-1) deficiency|encephalopathy due to GLUT1 deficiency|glucose transporter protein syndrome|GLUT1 deficiency syndrome 1|glucose transport defect, blood-brain barrier|glucose transporter Protein syndrome|GLUT1 DS|G1D|GLUT1-DS|GLUT1 deficiency syndrome GARD:0009265|EFO:0009139|MESH:C536830|OMIM:606777|Orphanet:71277|UMLS:C1847501|UMLS:CN030711|ICD10:G93.4 https://rarediseases.info.nih.gov/diseases/9265/glucose-transporter-type-1-deficiency-syndrome owl:Class CL:0000981 biolink:NamedThing double negative memory B cell A memory B cell with the phenotype IgD-negative and CD27-negative. tmpaxzxjjyw_mondo_relaxed.owl double negative memory B lymphocyte|double negative memory B-cell|double negative memory B-lymphocyte|dn memory B cell|dn memory B-lymphocyte|dn memory B lymphocyte|dn memory B-cell cell owl:Class MONDO:0001053 biolink:NamedThing acute infection of pinna An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. tmpaxzxjjyw_mondo_relaxed.owl ICD9:380.11|DOID:10520|SCTID:56663002|UMLS:C0155392 owl:Class HGNC:26038 biolink:NamedThing TMEM127 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019976 biolink:NamedThing dementia pugilistica Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from diffuse axonal injury; intracranial hemorrhages; brain edema; and other conditions. Clinical features may include dementia; focal neurologic deficits; persistent vegetative state; akinetic mutism; or coma. tmpaxzxjjyw_mondo_relaxed.owl Boxer's dementia|punch-drunk syndrome|chronic traumatic encephalopathy SCTID:230283005|MESH:D020208|UMLS:CN206907|ICD10:F01.8|Orphanet:97353 owl:Class MONDO:0100340 biolink:NamedThing Friedreich ataxia 1 Any Friedreich ataxia in which the cause of the disease is a mutation in the FXN gene. tmpaxzxjjyw_mondo_relaxed.owl Friedreich ataxia type 1|FRDA1|Friedreich ataxia 1 MESH:C565561|OMIM:229300|UMLS:C1856689 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0009143 biolink:NamedThing Meier-Gorlin syndrome 1 Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene. tmpaxzxjjyw_mondo_relaxed.owl microtia, absent patellae, micrognathia syndrome|Meier-Gorlin syndrome caused by mutation in ORC1|Meier-Gorlin syndrome type 1|Meier-GORLIN syndrome 1|MGORS1|Meier-Gorlin syndrome 1|ORC1 Meier-Gorlin syndrome|Meier-Gorlin syndrome|Ear, patella, short stature syndrome ICD9:759.89|SCTID:703508009|UMLS:CN030358|Orphanet:2554|OMIM:224690|DOID:0080512 owl:Class MONDO:0032687 biolink:NamedThing intellectual developmental disorder with abnormal behavior, microcephaly, and short stature tmpaxzxjjyw_mondo_relaxed.owl IDDABS|INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE OMIM:618342 owl:Class MONDO:0011850 biolink:NamedThing migraine with or without aura, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl Mgr5|migraine with or without aura, susceptibility to, 5|migraine with or without aura, susceptibility to, type 5 OMIM:607508 owl:Class MONDO:0005417 biolink:NamedThing wet macular degeneration A form of RETINAL degeneration in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision. tmpaxzxjjyw_mondo_relaxed.owl wet senile macular retinal degeneration|neovascular age-related macular degeneration|Senile macular degeneration, wet|wet AMD|exudative senile macular degeneration of retina|wet age related macular degeneration|Kuhnt-Junius degeneration|wet ARMD UMLS:C0271084|ICD9:362.52|UMLS:C2237660|ICD10:H35.32|SCTID:414173003|MESH:D057135|EFO:0004683|DOID:10873 owl:Class MONDO:0013147 biolink:NamedThing dilated cardiomyopathy 1CC Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene. tmpaxzxjjyw_mondo_relaxed.owl familial isolated dilated cardiomyopathy caused by mutation in NEXN|NEXN familial isolated dilated cardiomyopathy|cardiomyopathy, dilated, type 1Cc|CMD1CC|dilated cardiomyopathy type 1CC|cardiomyopathy, dilated, 1CC UMLS:C2751084|Orphanet:154|MESH:C567733|DOID:0110424|ICD10:I42.0|OMIM:613122 owl:Class GO:0006878 biolink:NamedThing cellular copper ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. tmpaxzxjjyw_mondo_relaxed.owl copper homeostasis owl:Class GO:0055070 biolink:NamedThing copper ion homeostasis Any process involved in the maintenance of an internal steady state of copper ions within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl copper homeostasis owl:Class MONDO:0006571 biolink:NamedThing lichen nitidus A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses. tmpaxzxjjyw_mondo_relaxed.owl Pinkus' disease Wikipedia:Lichen_nitidus|SCTID:41890004|UMLS:C0162849|DOID:8573|ICD10:L44.1|ICD9:697.1|EFO:1000725|MESH:D017513 owl:Class MONDO:0006570 biolink:NamedThing lichen disease A long-term skin condition that mainly affects the skin of the genitals. It usually causes itching and white patches to appear on the affected skin. tmpaxzxjjyw_mondo_relaxed.owl lichen|lichen condition UMLS:C0023643|ICD9:697|ICD9:697.9|SCTID:88996004|DOID:8574|ICD10:L28.0|EFO:1000724|ICD9:697.8 owl:Class MONDO:0010864 biolink:NamedThing type 1 diabetes mellitus 7 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 2q31. tmpaxzxjjyw_mondo_relaxed.owl IDDM7|diabetes mellitus, insulin-dependent, 7|insulin-dependent diabetes mellitus 7 OMIM:600321|DOID:0110746|UMLS:C1838259|ICD10:E10|MESH:C563957 owl:Class MONDO:0001622 biolink:NamedThing mechanical lagophthalmos tmpaxzxjjyw_mondo_relaxed.owl DOID:13037|ICD9:374.22|ICD10:H02.22|UMLS:C0155198|SCTID:21783006 owl:Class MONDO:0009600 biolink:NamedThing metaphyseal dysplasia, anetoderma, and optic atrophy tmpaxzxjjyw_mondo_relaxed.owl metaphyseal dysplasia, anetoderma, and optic atrophy OMIM:250450|MESH:C565395|UMLS:C1855174 owl:Class MONDO:0007236 biolink:NamedThing branchiootorenal syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl BOR1|branchiootorenal syndrome type 1|Melnick-Fraser syndrome|branchiootorenal syndrome 1|branchiootorenal dysplasia Orphanet:107|UMLS:C0265234|DOID:0111423|OMIM:113650 owl:Class NCBITaxon:1437010 biolink:NamedThing Boreoeutheria tmpaxzxjjyw_mondo_relaxed.owl Boreotheria PMID:11743200|GC_ID:1|PMID:11791233 ncbi_taxonomy owl:Class MONDO:0013480 biolink:NamedThing renal hypomagnesemia 6 tmpaxzxjjyw_mondo_relaxed.owl HOMG6|hypomagnesemia 6, renal|renal hypomagnesemia type 6|renal hypomagnesemia-6 DOID:0060884|ICD10:E83.4|UMLS:C3151295|OMIM:613882|Orphanet:34527|GARD:0012155 https://rarediseases.info.nih.gov/diseases/12155/renal-hypomagnesemia-6 owl:Class PATO:0001672 biolink:NamedThing decreased distribution A distribution which is relatively low. tmpaxzxjjyw_mondo_relaxed.owl low distribution owl:Class MONDO:0024472 biolink:NamedThing boutonneuse fever An infectious disease of the Mediterranean area, the Crimea, Africa, and India, caused by infection with rickettsia conorii subsp. coronorii. tmpaxzxjjyw_mondo_relaxed.owl Kenyan tick typhus|boutonneuse fever|Mediterranean spotted fever|Kenya tick typhus|boutonneuse disease|marseilles fever|South African tick-bite fever|Kenya fever|African tick typhus|Rickettsia conorii spotted fever|Mediterranean tick fever|tick typhus due to rickettsia conorii|fievre boutonneuse|Conor and Bruch's disease ICD9:082.1|MESH:D001907|DOID:14095|Orphanet:101334|ICD10:A77.1|Orphanet:83313|SCTID:186774005|MedDRA:10006045|UMLS:C0006060|EFO:0007179 owl:Class MONDO:0000952 biolink:NamedThing cancer of long bone of lower limb A cancer that involves the hindlimb long bone. tmpaxzxjjyw_mondo_relaxed.owl hindlimb long bone cancer|long bones of lower limb cancer|malignant hindlimb long bone neoplasm|cancer of hindlimb long bone|malignant neoplasm of long bones of leg|malignant neoplasm of hindlimb long bone SCTID:449627008|ICD9:170.7|UMLS:C3265932|ICD10:C40.2|DOID:10149 owl:Class MONDO:0019919 biolink:NamedThing maternal uniparental disomy of chromosome 22 tmpaxzxjjyw_mondo_relaxed.owl UPD(22)mat|maternal uniparental disomy of chromosome type 22 Orphanet:96188|ICD10:Q99.8 owl:Class MONDO:0035122 biolink:NamedThing GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder tmpaxzxjjyw_mondo_relaxed.owl Orphanet:589547 owl:Class MONDO:0030341 biolink:NamedThing myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl CMS7B|myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive OMIM:619461 owl:Class MONDO:0001479 biolink:NamedThing cutaneous diphtheria A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla. tmpaxzxjjyw_mondo_relaxed.owl cutaneous diphtheria EFO:1000683|NCIT:C34544|ICD10:A36.3|SCTID:18901009|UMLS:C0012555|DOID:12275|ICD9:032.85 owl:Class MONDO:0012967 biolink:NamedThing hemolytic anemia due to adenylate kinase deficiency Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment. tmpaxzxjjyw_mondo_relaxed.owl ADENYLATE KINASE deficiency, hemolytic anemia due to UMLS:C2675459|OMIM:612631|ICD10:D55.3|Orphanet:86817|MESH:C567228|SCTID:766982000 owl:Class UBERON:0007728 biolink:NamedThing interphalangeal joint of pedal digit 5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013121 biolink:NamedThing glaucoma 3, primary congenital, C tmpaxzxjjyw_mondo_relaxed.owl glaucoma 3, primary congenital, C|GLC3C OMIM:613085|Orphanet:98976 owl:Class NCBITaxon:1781 biolink:NamedThing Mycobacterium marinum tmpaxzxjjyw_mondo_relaxed.owl Mycobacterium balnei|Mycobacterium platypoecilus PMID:12089250|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0007393 biolink:NamedThing cranioacrofacial syndrome tmpaxzxjjyw_mondo_relaxed.owl Cranioacrofacial syndrome Orphanet:1339|UMLS:C1852512|OMIM:122850|MESH:C565147 owl:Class MONDO:0025138 biolink:NamedThing vesicular exanthema of swine A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia. tmpaxzxjjyw_mondo_relaxed.owl swine vesicular Exanthemas|swine vesicular exanthema UMLS:C0042584|MESH:D014720 owl:Class MONDO:0015458 biolink:NamedThing intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Da Silva syndrome|intellectual disability - hypoplastic corpus callosum - preauricular tag UMLS:CN199578|SCTID:722455002|ICD10:Q87.8|Orphanet:1495|GARD:0012487 owl:Class MONDO:0018548 biolink:NamedThing acute poisoning by drugs with membrane-stabilizing effect Acute poisoning with a membrane-stabilizing effect is potentially life-threatening. The principle drugs involved are tricyclic antidepressants, chloroquine, some types of beta blockers, class IA antiarrhythmics, carbamazepin and cocaine. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227538|Orphanet:43119 owl:Class HGNC:12563 biolink:NamedThing UMPS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009489 biolink:NamedThing hereditary palmoplantar keratoderma, Gamborg-Nielsen type Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl PPK, Gamborg-Nielsen type|palmoplantar keratoderma, Norrbotten recessive type|PPKNR|hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type OMIM:244850|ICD10:Q82.8|MESH:C565454|SCTID:717228004|Orphanet:86923 owl:Class NCBITaxon:33356 biolink:NamedThing Reduvioidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class ENVO:00000300 biolink:NamedThing scrubland area Area covered with low-growing or stunted perennial vegetation and usually not mixed with trees. tmpaxzxjjyw_mondo_relaxed.owl shrubland|bush|chaparal area|heath|scrub|scrubland owl:Class UBERON:0018235 biolink:NamedThing capsule of pancreas tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006923 biolink:NamedThing Bacillaceae infectious disease Infections with bacteria of the family bacillaceae. tmpaxzxjjyw_mondo_relaxed.owl Bacillaceae disease or disorder|infections, Bacillaceae|infection, Bacillaceae|Bacillaceae caused disease or disorder|Bacillaceae infection UMLS:C0085389|EFO:1001124|MESH:D016863 owl:Class MONDO:0004152 biolink:NamedThing chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation A recently recognized variant of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) expressing somatic hypermutations of the Immunoglobulin heavy chain (IGH) genes. The recognition of this variant alters the belief that CLL/SLL is always derived from a naive, pregerminal center B-cell. The presence of somatic hypermutations of IGH genes occurs in approximately 50% of CLL/SLL cases and implies a postgerminal center, memory origin. Patients with this variant of CLL/SLL have a favorable prognosis, with a reported median survival of more than 24 years. tmpaxzxjjyw_mondo_relaxed.owl postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma|chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation|CLL/SLL with IGVH SHM DOID:7230|UMLS:C1333037|NCIT:C37201 owl:Class MONDO:0054847 biolink:NamedThing epilepsy, familial adult myoclonic, 7 tmpaxzxjjyw_mondo_relaxed.owl epilepsy, FAMILIAL ADULT myoclonic, 7|FAME7|cortical myoclonic tremor with epilepsy, Familial, 7|benign Adult Familial myoclonic epilepsy 7 OMIM:618075|DOID:0111694|UMLS:CN252654 owl:Class NCBITaxon:222545 biolink:NamedThing Xylariomycetidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012541 biolink:NamedThing deafness with labyrinthine aplasia, microtia, and microdontia Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. tmpaxzxjjyw_mondo_relaxed.owl deafness congenital with inner ear agenesis microtia and microdontia|deafness, congenital, with inner EAR agenesis, microtia, and microdontia|deafness with labyrinthine aplasia, microtia, and microdontia|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|LAMM syndrome|deafness with labyrinthine aplasia microtia and microdontia (LAMM)|microdontia-type I microtia-deafness syndrome|deafness with Lamm|congenital deafness with inner ear agenesis microtia and microdontia SCTID:702360007|Orphanet:90024|ICD10:Q16.5|OMIM:610706|MESH:C565195|ICD9:759.89|GARD:0010707|UMLS:C1853144 owl:Class HGNC:9280 biolink:NamedThing PPOX tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019813 biolink:NamedThing congenital tricuspid stenosis tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q22.4|SCTID:36233006|Orphanet:95459|MedDRA:10010656 owl:Class MONDO:0010356 biolink:NamedThing nephrogenic syndrome of inappropriate antidiuresis Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD), and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. tmpaxzxjjyw_mondo_relaxed.owl NSIAD|nephrogenic syndrome of inappropriate antidiuresis SCTID:723440000|ICD10:E22.2|OMIM:300539|UMLS:C1845202|MESH:C564491|Orphanet:93606 owl:Class MONDO:0006465 biolink:NamedThing thyroid gland oncocytic follicular carcinoma A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent. tmpaxzxjjyw_mondo_relaxed.owl Hurthle cell carcinoma of the thyroid gland|Hurthle cell carcinoma of thyroid gland|oncocytic carcinoma of thyroid|thyroid Hurthle cell carcinoma|oncocytic carcinoma of the thyroid|thyroid oncocytic carcinoma|Hurthle cell carcinoma of the thyroid|thyroid gland Hurthle cell carcinoma|Hurthle cell carcinoma of thyroid|Hurthle cell thyroid gland carcinoma NCIT:C4946|EFO:1000592 owl:Class MONDO:0008602 biolink:NamedThing triglyceride storage disease, type 2 tmpaxzxjjyw_mondo_relaxed.owl triglyceride storage disease, type II UMLS:C1860820|OMIM:190430|MESH:C566030 owl:Class GO:0019232 biolink:NamedThing perception of rate of movement The series of events by which an organism senses the speed and direction of movement of the body and its parts. tmpaxzxjjyw_mondo_relaxed.owl kinesthesia owl:Class HGNC:4326 biolink:NamedThing GLRA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019578 biolink:NamedThing nodular lichen myxedematosus Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption. tmpaxzxjjyw_mondo_relaxed.owl atypical tuberous myxedema of Jadassohn-Dosseker UMLS:C4273968|SCTID:717257000|Orphanet:90393|ICD10:L98.5 owl:Class HGNC:868 biolink:NamedThing ATP6AP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11095 biolink:NamedThing Pestivirus tmpaxzxjjyw_mondo_relaxed.owl PMID:7747470|PMID:12832207|GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022666 biolink:NamedThing cassavism tmpaxzxjjyw_mondo_relaxed.owl GARD:0010442 https://rarediseases.info.nih.gov/diseases/10442/cassavism owl:Class CL:0000820 biolink:NamedThing B-1a B cell A B-1 B cell that has the phenotype CD5-positive. tmpaxzxjjyw_mondo_relaxed.owl B1a B lymphocyte|B-1a B lymphocyte|CD5+ B1 cell|B1a B-lymphocyte|B-1a B-cell|B-1a B-lymphocyte|B1a B cell|CD5-positive B1 cell|B1a cell|CD5(+) B1 cell|B1a B-cell cell owl:Class GO:1901192 biolink:NamedThing positive regulation of formation of translation initiation ternary complex Any process that activates or increases the frequency, rate or extent of formation of translation initiation ternary complex. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of translation initiation ternary complex assembly|up regulation of formation of translation initiation ternary complex|activation of translation initiation ternary complex assembly|positive regulation of translation initiation ternary complex assembly|up regulation of translation initiation ternary complex assembly|up-regulation of formation of translation initiation ternary complex|upregulation of formation of translation initiation ternary complex|activation of formation of translation initiation ternary complex|upregulation of translation initiation ternary complex assembly owl:Class NCBITaxon:119089 biolink:NamedThing Chromadorea tmpaxzxjjyw_mondo_relaxed.owl Adenophorea GC_ID:1 NCBITaxon:27837 ncbi_taxonomy owl:Class MONDO:0032670 biolink:NamedThing Diamond-Blackfan anemia 20 tmpaxzxjjyw_mondo_relaxed.owl DBA20|DIAMOND-BLACKFAN ANEMIA 20 OMIM:618313 owl:Class HP:0000014 biolink:NamedThing Abnormality of the bladder An abnormality of the urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149632 human_phenotype owl:Class MONDO:0008671 biolink:NamedThing Waardenburg syndrome type 2A Waardenburg syndrome Type 2 caused by mutations in the MITF gene. tmpaxzxjjyw_mondo_relaxed.owl Ws2|Waardenburg syndrome type 2A|Waardenburg syndrome type 2 caused by mutation in MITF|Waardenburg syndrome without dystopia canthorum|WS2A|MITF Waardenburg syndrome type 2|Waardenburg syndrome type IIA|Waardenburg syndrome, type 2A Orphanet:3440|GARD:0005521|NCIT:C75011|Orphanet:895|OMIM:193510|MESH:C536464|DOID:0110950 https://rarediseases.info.nih.gov/diseases/5521/waardenburg-syndrome-type-2a owl:Class MONDO:0011524 biolink:NamedThing Dianzani autoimmune lymphoproliferative disease Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly. tmpaxzxjjyw_mondo_relaxed.owl Dianzani form of autoimmune lymphoproliferative disease|Dianzani autoimmune lymphoproliferative disease|autoimmune lymphoproliferative syndrome without FAS mutations|DALD|Dianzani autoimmune lymphoproliferative syndrome UMLS:C2931071|MESH:C535950|GARD:0009797|Orphanet:275523|OMIM:605233|SCTID:721093000|ICD10:D47.9 owl:Class MONDO:0024379 biolink:NamedThing circadian rhythm sleep disorder, irregular sleep wake type A circadian sleep disorder characterized by at least three sleep episodes per 24-hour period, irregularly from day to day. tmpaxzxjjyw_mondo_relaxed.owl irregular sleep-wake pattern|irregular sleep-wake disorder|ISWD SCTID:271793004|UMLS:C0393771|ICD9:327.33|ICD10:G47.23 owl:Class MONDO:0015291 biolink:NamedThing stromal keratitis Herpes simplex (HSV) stromal keratitis is an infectious ocular disease of either necrotizing or non-necrotizing form, due to an HSV infection, and characterized by corneal stromal necrosis, inflammation, ulceration and infiltration by leukocytes. Corneal perforation and blindness can also occur in severe cases. tmpaxzxjjyw_mondo_relaxed.owl ICD10:H16.3|UMLS:C1318020|Orphanet:137599 owl:Class HGNC:16466 biolink:NamedThing SUFU tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032917 biolink:NamedThing hearing loss, autosomal dominant 76 tmpaxzxjjyw_mondo_relaxed.owl DFNA76|DEAFNESS, AUTOSOMAL DOMINANT 76|deafness, autosomal dominant 76 OMIM:618787 owl:Class ECTO:4000033 biolink:NamedThing exposure to decreased water pressure A exposure event involving the interaction of an exposure receptor to decreased amount of pressure of water. tmpaxzxjjyw_mondo_relaxed.owl exposure to decreased amount in pressure of water owl:Class NCBITaxon:314293 biolink:NamedThing Simiiformes tmpaxzxjjyw_mondo_relaxed.owl Anthropoidea GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004729 biolink:NamedThing dyskinesia of esophagus Disorders affecting the motor function of the upper esophageal sphincter; lower esophageal sphincter; the esophagus body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (gastroesophageal reflux). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus). tmpaxzxjjyw_mondo_relaxed.owl esophageal dysmotility|esophageal motility disorder|dyskinesia of oesophagus|oesophageal dysmotility|oesophageal motor disorder ICD10:K22.4|UMLS:C0014858|SCTID:266434009|ICD9:530.5|EFO:1001785|MESH:D015154|DOID:9192 owl:Class MONDO:0022007 biolink:NamedThing water intoxication A condition resulting from the excessive retention of water with sodium depletion. tmpaxzxjjyw_mondo_relaxed.owl WATER INTOX|Water intoxication|Water intoxication syndrome|Water Intoxication|water intoxication syndrome MESH:D014869|SCTID:71785001|UMLS:C0043049 owl:Class HGNC:28900 biolink:NamedThing PNPLA8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001561 biolink:NamedThing pyloric stenosis Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. tmpaxzxjjyw_mondo_relaxed.owl gastric outflow obstruction|pyloric stenosis (disease)|GOO|gastric outlet obstruction|pyloric stenosis pyloric stenosis (disease) MedDRA:10062499|EFO:1000947|SCTID:367403001|DOID:12639|NCIT:C34966|MESH:D017219|MESH:D011707|HP:0002021|ICD10:K31.1|DOID:3122 owl:Class MONDO:0009050 biolink:NamedThing Cushing disease due to pituitary adenoma Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl pituitary corticotroph micro-adenoma|ACTH producing pituitary adenoma|Cushing disease, pituitary|Cushing disease|ACTH-secreting pituitary adenoma|Corticotropinoma|Cushing's disease|corticotroph pituitary adenoma|pituitary adenoma, ACTH-secreting|corticotroph adenoma|PITA4|pituitary-dependent Cushing syndrome|pituitary dependent Cushing syndrome|pituitary adenoma 4, ACTH-secreting NCIT:C113210|MESH:D049913|OMIM:219090|ICD10:E24.0|MedDRA:10035109|NCIT:C7462|SCTID:254958004|UMLS:C1306214|GARD:0012867|ICD10:D35.2|Orphanet:96253|DOID:7004|UMLS:C0010481|UMLS:C0221406 https://rarediseases.info.nih.gov/diseases/12867/acth-secreting-pituitary-adenoma owl:Class MONDO:0015767 biolink:NamedThing trisomy 4p Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males. tmpaxzxjjyw_mondo_relaxed.owl chromosome 4p duplication|4p trisomy|4p duplication|partial trisomy 4p|trisomy type 4p|trisomy of the short arm of chromosome 4|Duplication of the short arm of chromosome 4|Duplication 4p ICD10:Q92.2|MESH:C537643|Orphanet:1738|GARD:0006091 owl:Class MONDO:0004876 biolink:NamedThing myocardial stunning Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity. tmpaxzxjjyw_mondo_relaxed.owl MESH:D017682|DOID:9767|UMLS:C0206146 owl:Class MONDO:0018746 biolink:NamedThing mucous membrane pemphigoid Mucous membrane pemphigoid is a bullous dermatosis characterised clinically by blistering of the mucous membranes followed by scarring, and immunologically by IgG, IgA and/or C3 deposits on the epidermal basement membrane. tmpaxzxjjyw_mondo_relaxed.owl mucosal pemphigoid|benign mucous membrance pemphigoid|benign mucous membrane pemphigoid with ocular involvement|benign mucous Membrane pemphigoid|ocular pemphigus|Mucosynechial pemphigoid|benign mucous membrane pemphigoid|cicatricial pemphigoid with ocular involvement|benign mucosal pemphigoid|cicatricial pemphigoid|ocular pemphigoid NCIT:C34907|ICD9:694.61|ICD10:L12.1|GARD:0005913|DOID:11656|OMIM:164185|MedDRA:10057052|ICD9:694.6|Orphanet:46486|EFO:1000680|SCTID:76092003 owl:Class MONDO:0001239 biolink:NamedThing anemia of prematurity A blood disorder characterized by low hemoglobin levels in premature neonates that usually spontaneously resolves within 3-6 months post birth. A combination of factors including the transition from the liver to the bone marrow for erythropoiesis in a neonate, blood loss experienced during delivery, the shortened life span of fetal blood cells, and an acclimation to a relatively hyperoxic environment outside the womb can predispose a neonate to this condition. tmpaxzxjjyw_mondo_relaxed.owl AOP NCIT:C97167|SCTID:47100003|ICD10:P61.2|DOID:11243|UMLS:C0158996|ICD9:776.6 owl:Class MONDO:0008223 biolink:NamedThing hypokalemic periodic paralysis Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels. tmpaxzxjjyw_mondo_relaxed.owl familial hypokalemic periodic paralysis|periodic hypokalemic paralysis|HypoPP|HKPP|HOKPP|hypokalemic familial periodic paralysis|periodic paralysis I|Westphall disease|hypokalemic periodic paralysis|familial periodic paralysis (& [hypokalaemic]) MESH:D020514|Orphanet:681|UMLS:C0238358|UMLS:C0238357|DOID:14452|ICD10:G72.3|OMIM:613345|NCIT:C84775|OMIM:170400|SCTID:82732003|GARD:0006729 https://rarediseases.info.nih.gov/diseases/6729/hypokalemic-periodic-paralysis owl:Class MONDO:0015781 biolink:NamedThing facial dysmorphism-shawl scrotum-joint laxity syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl Seaver-Cassidy syndrome|hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies|Seaver Cassidy syndrome|facial dysmorphism shawl scrotum joint laxity MESH:C537529|SCTID:716337006|UMLS:C2931522|ICD10:Q87.8|Orphanet:1778|GARD:0004778 owl:Class MONDO:0004498 biolink:NamedThing sacral spinal canal and spinal cord meningioma A meningioma that arises from the meninges of the sacral region of the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl sacral intraspinal meningioma|meningioma of sacral spinal canal and spinal cord|meningioma of the sacral spinal canal and spinal cord NCIT:C5299|UMLS:C1335893|DOID:8203 owl:Class MONDO:0012920 biolink:NamedThing type 1 diabetes mellitus 21 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q25. tmpaxzxjjyw_mondo_relaxed.owl insulin-dependent diabetes mellitus 21|IDDM21|diabetes mellitus, insulin-dependent, 21 MESH:C567285|ICD10:E10|DOID:0110758|OMIM:612521|UMLS:C2675865 owl:Class MONDO:0014262 biolink:NamedThing Rienhoff syndrome Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection. tmpaxzxjjyw_mondo_relaxed.owl Loeys-Dietz syndrome type 5|Loeys-Dietz syndrome 5|LDS5|Rienhoff syndrome UMLS:C3810012|GARD:0012356|EFO:1000012|DOID:0070236|OMIM:615582 https://rarediseases.info.nih.gov/diseases/12356/rienhoff-syndrome owl:Class MONDO:0045038 biolink:NamedThing cutaneous basidiobolomycosis tmpaxzxjjyw_mondo_relaxed.owl SCTID:240786004|UMLS:C0343966 owl:Class MONDO:0025155 biolink:NamedThing hemorrhagic syndrome, bovine Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (diarrhea virus 2, bovine viral). Outbreaks are characterized by high morbidity and high mortality. tmpaxzxjjyw_mondo_relaxed.owl bovine hemorrhagic syndrome MESH:D030243|UMLS:C0950112 owl:Class UBERON:0003644 biolink:NamedThing kidney arterial blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0013702 biolink:NamedThing body proper tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3236 biolink:NamedThing EGFR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033202 biolink:NamedThing hearing loss, autosomal recessive 109 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 109|DFNB109 UMLS:CN248519|OMIM:618013|DOID:0111639 owl:Class MONDO:0019887 biolink:NamedThing distal trisomy 16q Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (incl. high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. tmpaxzxjjyw_mondo_relaxed.owl distal duplication 16q|telomeric duplication 16q|trisomy 16qter|distal trisomy type 16q SCTID:764459008|ICD10:Q92.3|Orphanet:96106 owl:Class MONDO:0016503 biolink:NamedThing congenital erosive and vesicular dermatosis tmpaxzxjjyw_mondo_relaxed.owl CEVD|congenital erosive and vesicular dermatosis with reticulated supple scarring Orphanet:231573 owl:Class MONDO:0006717 biolink:NamedThing cutaneous fibrous histiocytoma A benign, intermediate, or malignant mesenchymal neoplasm composed of fibrohistiocytic cells, spindle fibroblastic cells, and histiocytes, in a storiform pattern. tmpaxzxjjyw_mondo_relaxed.owl benign fibrous histiocytoma of the skin|sclerosing angioma of skin|fibrous histiocytoma of skin|benign fibrous cutaneous histiocytoma|dermatofibroma, no ICD-O subtype|pleomorphic fibroma|DF|fibrous histiocytoma of the skin|dermatofibroma, no ICD-O subtype (morphologic abnormality)|benign cutaneous fibrous histiocytoma|fibrohistiocytic tumor|fibrous xanthoma of skin|dermatofibroma|benign skin fibrous histiocytoma|benign fibrous histiocytoma of skin|sclerosing angioma|cutaneous fibrous histiocytoma|fibrohistiocytic neoplasm|sclerosing angioma (morphologic abnormality) DOID:4418|SCTID:448015002|UMLS:C0002991|EFO:1000885|MESH:D018219|ICDO:8832/0|UMLS:C0346049|ONCOTREE:DF|NCIT:C6801 owl:Class MONDO:0009649 biolink:NamedThing moyamoya disease 1 tmpaxzxjjyw_mondo_relaxed.owl MYMY1|Moyamoya disease 1|Moyamoya disease|spontaneous occlusion of the circle of Willis Orphanet:2573|ICD9:437.5|OMIM:252350|SCTID:69116000 owl:Class MONDO:0100282 biolink:NamedThing SC phocomelia syndrome tmpaxzxjjyw_mondo_relaxed.owl hypomelia hypotrichosis facial hemangioma syndrome Orphanet:3103|DOID:0050536|OMIM:269000 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/2553 owl:Class MONDO:0006050 biolink:NamedThing pleomorphic breast carcinoma A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate. tmpaxzxjjyw_mondo_relaxed.owl anaplastic breast carcinoma UMLS:C1514169|EFO:1000047|NCIT:C5161|UMLS:C2211689 _:comment___:_:@___:_:createdBy__http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern___:.__PMID:25197400 owl:Class MONDO:0032728 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, type 2EE tmpaxzxjjyw_mondo_relaxed.owl CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE|CMT2EE|Charcot-Marie-Tooth Neuropathy, Type 2Ee DOID:0111559|OMIM:618400 owl:Class MONDO:0054695 biolink:NamedThing myopathy, centronuclear, 6, with fiber-type disproportion tmpaxzxjjyw_mondo_relaxed.owl CNM6|myopathy, centronuclear, 6, with fiber-type disproportion|myopathy, centronuclear, 6, with FIBER-type disproportion DOID:0111221|OMIM:617760|UMLS:C4540345 owl:Class HGNC:19042 biolink:NamedThing MASTL tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:213115 biolink:NamedThing Desulfovibrionales tmpaxzxjjyw_mondo_relaxed.owl PMID:16403855|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0011485 biolink:NamedThing autosomal recessive congenital ichthyosis 5 An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has material basis in homozygous mutation in the CYP4F22 gene on chromosome 19p13. tmpaxzxjjyw_mondo_relaxed.owl ichthyosis, congenital, autosomal recessive 5|autosomal recessive congenital ichthyosis type 5|autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis|LI3, formerly|ichthyosis, lamellar, 3, formerly|ichthyosis lamellar 3|ichthyosis congenita III|ichthyosis, lamellar, 3|ichthyosis, NONLAMELLAR and NONERYTHRODERMIC, congenital, autosomal recessive|lamellar ichthyosis, type 3|ARCI5|type 3 lamellar ichthyosis|ichthyosis, congenital, autosomal recessive type 5|ichthyosis, Nonlamellar and Nonerythrodermic, congenital, autosomal recessive|ichthyosis congenita 3|NNCI|autosomal recessive congenital ichthyosis 5 OMIM:604777|Orphanet:313|GARD:0009734|ICD10:Q80.2|MESH:C537265|DOID:0060714 https://rarediseases.info.nih.gov/diseases/9734/ichthyosis-lamellar-3 owl:Class MONDO:0003034 biolink:NamedThing mediastinum angiosarcoma A malignant vascular neoplasm arising from the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl angiosarcoma of mediastinum|angiosarcoma (disease) of mediastinum|mediastinal hemangiosarcoma|angiosarcoma of the mediastinum|mediastinum angiosarcoma (disease)|mediastinal angiosarcoma|hemangiosarcoma of the mediastinum|hemangiosarcoma of mediastinum NCIT:C6613|DOID:4525|UMLS:C1334649 owl:Class MONDO:0003810 biolink:NamedThing bladder diffuse clear cell adenocarcinoma A rare morphologic variant of bladder adenocarcinoma characterized by the presence of malignant glandular epithelial cells and clear cells forming a diffuse pattern. tmpaxzxjjyw_mondo_relaxed.owl bladder diffuse clear cell adenocarcinoma DOID:6210|UMLS:C1511187|NCIT:C39849 owl:Class MONDO:0030066 biolink:NamedThing granulomatous disease, chronic, autosomal recessive, 5 tmpaxzxjjyw_mondo_relaxed.owl GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5|CGD5|Granulomatous Disease, Chronic, Due to Cybc1 Deficiency|granulomatous disease, chronic, autosomal recessive, 5 OMIM:618935 owl:Class MONDO:0004348 biolink:NamedThing retinal telangiectasia tmpaxzxjjyw_mondo_relaxed.owl ICD9:362.15|UMLS:C0154835|HP:0007763|DOID:7736|SCTID:84884003 Consider obsoleting and ceding to HPO owl:Class MONDO:0032884 biolink:NamedThing ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies tmpaxzxjjyw_mondo_relaxed.owl ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES|EDFAOB OMIM:618727 owl:Class MONDO:0003223 biolink:NamedThing meninges hemangiopericytoma A solitary fibrous tumor/hemangiopericytoma that arises from the meninges. tmpaxzxjjyw_mondo_relaxed.owl meningeal cluster hemangiopericytoma|meningeal solitary fibrous tumor/hemangiopericytoma|hemangiopericytoma of the central nervous system|meningeal hemangiopericytoma|meninges hemangiopericytoma|hemangiopericytoma of the meninges|meningeal cluster spindle cell tumor|hemangiopericytoma of meninges ONCOTREE:HPCCNS|NCIT:C4660|UMLS:C0349622|SCTID:277522009|DOID:4957 owl:Class MONDO:0006843 biolink:NamedThing macular holes A hole in the macula of the retina. tmpaxzxjjyw_mondo_relaxed.owl macular hole UMLS:C0024441|SCTID:232006002|NCIT:C34795|EFO:1001028|DOID:7633 owl:Class CL:2000084 biolink:NamedThing conjunctiva goblet cell Any goblet cell that is part of a conjunctiva. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-12-02T19:28:38Z cell owl:Class MONDO:0006151 biolink:NamedThing colon dysplasia A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion. tmpaxzxjjyw_mondo_relaxed.owl dysplasia of the colon|colonic dysplasia|dysplasia of colon NCIT:C4847|UMLS:C1302363|SCTID:308870004|EFO:1000183 Editor notes: not in NCIT neoplas subset owl:Class MONDO:0019585 biolink:NamedThing scleromyxedema without monoclonal gammopathy Scleromyxedema without monoclonal gammopathy is a form of atypical lichen myxedematosus, characterized by a generalized sclerodermoid infiltration of skin studded with multiple, firm papules of 1-3 mm in diameter involving face (leonine appearance), trunk, and limbs, without monoclonal gammopathy. The involvement of the face can be missing and pruritus may be prominent. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:90400|ICD10:L98.5 owl:Class MONDO:0019447 biolink:NamedThing atypical lichen myxedematosus Atypical lichen myxedematosus is an intermediate form of lichen myxedematosus (LM) (a form of mucin dermal deposit) which does not meet the criteria for either scleromyxedema or the localized form. Three clinical subtypes have been described and include scleromyxedema without monoclonal gammopathy; localized forms with monoclonal gammopathy and/or systemic symptoms; localized forms with mixed features of the 5 subtypes of localized LM (discrete form, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and a pure nodular form). The course of atypical LM is unpredictable because only a few cases have been reported. tmpaxzxjjyw_mondo_relaxed.owl Intermediate lichen myxedematosus UMLS:C4510874|ICD10:L98.5|Orphanet:86797|SCTID:725148000 owl:Class PATO:0000402 biolink:NamedThing branched A branchiness quality inhering in a bearer by virtue of the bearer's having branches. tmpaxzxjjyw_mondo_relaxed.owl ramiform|ramified owl:Class PATO:0002009 biolink:NamedThing branchiness A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004276 biolink:NamedThing ceruminoma A benign epithelial neoplasm derived from ceruminous glands in the external auditory canal. It presents as a grey mass covered by skin. It is characterized by a proliferation of glands composed of cells with abundant eosinophilic and granular cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl ceruminous adenoma of external auditory canal|ceruminous adenoma|ceruminous adenoma (morphologic abnormality)|adenoma, ceruminous gland, benign|external auditory canal ceruminous adenoma|ceruminous adenoma of the external auditory canal UMLS:C1333488|UMLS:C0334352|ICDO:8420/0|NCIT:C6088|SCTID:403945001|DOID:7549 owl:Class MONDO:0020354 biolink:NamedThing coloboma of choroid and retina Coloboma of choroid and retina is a rare, genetic developmental defect during embryogenesis characterized by the partial absence of retinal pigment epithelium and choroid, most frequently located in the inferonasal quadrant. Patients usually present reduced vision and have an increased risk for retinal detachment. Other ocular anomalies (e.g. coloboma of iris, microcornea, nystagmus, strabismus, microphthalmos) are usually associated, however it may also be isolated. tmpaxzxjjyw_mondo_relaxed.owl retinal coloboma|choroidal coloboma|retinochoroidal coloboma Orphanet:98942|OMIM:120200|ICD10:Q14.8|GARD:0001432|SCTID:39302008 owl:Class MONDO:0017597 biolink:NamedThing T-cell/histiocyte rich large B cell lymphoma T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma and has an aggressive clinical course. tmpaxzxjjyw_mondo_relaxed.owl THRLBCL|T-cell rich/histiocyte-rich large B-cell lymphoma|T-cell/histiocyte-rich large B-cell lymphoma|T-cell/histiocyte rich lymphoma ICD10:C83.3|NCIT:C9496|UMLS:C1321547|GARD:0012257|Orphanet:300857|ICDO:9688/3|ICDO:9680/3|ONCOTREE:THRLBCL https://rarediseases.info.nih.gov/diseases/12257/t-cellhistiocyte-rich-large-B-cell-lymphoma owl:Class CL:0008030 biolink:NamedThing excitatory neuron tmpaxzxjjyw_mondo_relaxed.owl dos 2017-07-12 11:11:06+00:00 owl:Class MONDO:0015544 biolink:NamedThing acquired hemophagocytic lymphohistiocytosis associated with malignant disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:158057|UMLS:CN199702 owl:Class MONDO:0015542 biolink:NamedThing secondary hemophagocytic lymphohistiocytosis Hemophagocytic lymphohistiocytosis due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. tmpaxzxjjyw_mondo_relaxed.owl acquired hemophagocytic lymphohistiocytosis|reactive hemophagocytic syndrome|acquired hemophagocytic syndrome Orphanet:158041|UMLS:CN199700|UMLS:C4054044|UMLS:C0019068|NCIT:C121184 owl:Class MONDO:0020494 biolink:NamedThing oculootodental syndrome Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. tmpaxzxjjyw_mondo_relaxed.owl OOD UMLS:C2750325|OMIM:166750|ICD10:K00.2|Orphanet:99806 owl:Class CHEBI:52255 biolink:NamedThing hydroxylapatite A phosphate mineral with the formula Ca5(PO4)3(OH). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002443 biolink:NamedThing bruxism Excessive clenching of the jaw and grinding of the teeth. tmpaxzxjjyw_mondo_relaxed.owl bruxism (disease)|sleep related bruxism|bruxism - teeth grinding|bruxism|teeth grinding|grinding teeth bruxism (disease) ICD10:F45.8|DOID:2846|NCIT:C73511|HP:0003763|ICD9:327.53|ICD10:G47.63 owl:Class MONDO:0007674 biolink:NamedThing glucose-6-phosphate dehydrogenase-like tmpaxzxjjyw_mondo_relaxed.owl G6PDL|glucose-6-phosphate dehydrogenase-like OMIM:138110 owl:Class MONDO:0018058 biolink:NamedThing tracheal agenesis Tracheal agenesis (TA) is a rare congenital malformation in which the trachea may be completely absent (agenesis), or partially in place but underdeveloped (atresia). In both cases, proximal-distal communication between the larynx and the alveoli of the lungs is lacking. tmpaxzxjjyw_mondo_relaxed.owl congenital tracheal agenesis|congenital absence of trachea|tracheal absence MESH:C536975|UMLS:C1261567|GARD:0005233|NCIT:C35376|SCTID:3987009|ICD10:Q32.1|Orphanet:3346 https://rarediseases.info.nih.gov/diseases/5233/tracheal-agenesis owl:Class MONDO:0007847 biolink:NamedThing keloid formation tmpaxzxjjyw_mondo_relaxed.owl keloid formation OMIM:148100 owl:Class MONDO:0012652 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2L A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood. tmpaxzxjjyw_mondo_relaxed.owl ANO5 autosomal recessive limb-girdle muscular dystrophy|muscular dystrophy, limb-girdle, type 2L|LGMD2L|limb-girdle muscular dystrophy type 2L|autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5 UMLS:C1969785|Orphanet:206549|MESH:C566968|DOID:0110284|GARD:0012536|OMIM:611307|ICD10:G71.0 owl:Class HGNC:4042 biolink:NamedThing FZD4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:5593 biolink:NamedThing Microascaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:34396 ncbi_taxonomy owl:Class NCBITaxon:5592 biolink:NamedThing Microascales tmpaxzxjjyw_mondo_relaxed.owl Plectomycetes GC_ID:1 NCBITaxon:45490 ncbi_taxonomy owl:Class MONDO:0016488 biolink:NamedThing beta-thalassemia associated with another hemoglobin anomaly Beta-thalassemias associated with hemoglobin (Hb) anomalies result in a variable clinical spectrum, ranging from asymptomatic to severe, depending on the severity of the thalassemia mutation and on the type of the Hb anomaly [hereditary persistence of fetal Hb, delta-beta-thalassemia, Hb C - beta-thalassemia, Hb E - beta-thalassemia and Hb S - beta-thalassemia ]. tmpaxzxjjyw_mondo_relaxed.owl Beta-thalassemia associated with another Hb anomaly 2022-03-01 Orphanet:231230|ICD10:D58.2 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: beta-thalassemia and related diseases' MONDO_0017145 owl:Class MONDO:0014715 biolink:NamedThing primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis. tmpaxzxjjyw_mondo_relaxed.owl IMD44|primary immunodeficiency with post-MMR vaccine viral infection|immunodeficiency 44|immunodeficiency type 44 OMIM:616636|UMLS:C4225260|Orphanet:431166|OMIM:616669|ICD10:D84.8 owl:Class UBERON:0005945 biolink:NamedThing neurocranial trabecula tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003056 biolink:NamedThing lymphoplasmacyte-rich meningioma A WHO grade I meningioma characterized by the presence of prominent chronic inflammatory infiltrates that predominate over the meningioma cells. tmpaxzxjjyw_mondo_relaxed.owl lymphoplasmocyte-rich meningioma|lymphoplasmocyte-rich meningioma (morphologic abnormality)|lymphoplasmacyte-rich meningioma DOID:4591|EFO:1000342|UMLS:C0431119|NCIT:C4720 owl:Class UBERON:0004268 biolink:NamedThing lower arm connective tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000042 biolink:NamedThing embryonic fibroblast Any fibroblast that is part of a embryo. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-07-09T00:12:00Z cell owl:Class MONDO:0009761 biolink:NamedThing cystic hygroma A benign lymphatic neoplasm usually arising from the neck and characterized by cystic dilation of the lymphatic vessels. tmpaxzxjjyw_mondo_relaxed.owl cystic hygroma, fetal|nuchal bleb, familial|macrocystic lymphatic malformation|cystic lymphangioma|cystic hygroma|hygroma ICD10:D18.1|ICDO:9173/0|Orphanet:79486|MedDRA:10058949|OMIM:257350|DOID:3081|NCIT:C3724|GARD:0006234|EFO:1000888|MESH:D018191|SCTID:399882002 owl:Class HGNC:2701 biolink:NamedThing DCC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008630 biolink:NamedThing urinary bladder, atony of tmpaxzxjjyw_mondo_relaxed.owl atony of urinary bladder|urinary bladder, atony of OMIM:191800 owl:Class MONDO:0030317 biolink:NamedThing cardiomyopathy, familial hypertrophic, 28 tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, familial hypertrophic, 28|CMH28 OMIM:619402 owl:Class MONDO:0007084 biolink:NamedThing familial focal alopecia tmpaxzxjjyw_mondo_relaxed.owl ALPF|alopecia, familial focal UMLS:C1863092|OMIM:104110|MESH:C566301 owl:Class OBO:CHR_9606-chr16p12 biolink:NamedThing 16p12 (Human) tmpaxzxjjyw_mondo_relaxed.owl 28500000 16700000 hg38 owl:Class MONDO:0014779 biolink:NamedThing Wilms tumor 6 Any Wilms tumor in which the cause of the disease is a mutation in the REST gene. tmpaxzxjjyw_mondo_relaxed.owl WT6|Wilms tumor 6|Wilms tumor type 6|Wilms tumor 6; WT6 OMIM:616806 owl:Class MONDO:0003315 biolink:NamedThing endometrium carcinoma in situ A carcinoma in situ involving a endometrium. tmpaxzxjjyw_mondo_relaxed.owl carcinoma in situ of endometrium|stage 0 endometrium carcinoma|endometrial carcinoma in situ|endometrium in situ carcinoma ICD10:D07.0|ICD9:233.2|UMLS:C0346191|DOID:5172|SCTID:92582009 owl:Class MONDO:0041095 biolink:NamedThing malignant otitis externa caused by Pseudomonas aeruginosa An malignant otitis externa caused by infection with Pseudomonas aeruginosa. tmpaxzxjjyw_mondo_relaxed.owl Pseudomonas aeruginosa caused malignant otitis externa|malignant otitis externa caused by Pseudomonas aeruginosa|malignant otitis externa due to Pseudomonas aeruginosa|Pseudomonas aeruginosa malignant otitis externa UMLS:C0395818|SCTID:232230009 owl:Class HP:0030875 biolink:NamedThing Abnormality of pulmonary circulation A functional anomaly of that portion of the cardiosvascular system that carries deoxygenated blood from the heart to the lungs and returns oxygenated blood back to the heart. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of respiratory circulation|Abnormal pulmonary circulation UMLS:C4280730 human_phenotype owl:Class MONDO:0018360 biolink:NamedThing neonatal lupus erythematosus A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis. tmpaxzxjjyw_mondo_relaxed.owl neonatal SLE|neonatal lupus|neonatal systemic lupus erythematosus|congenital lupus erythematosus|congenital lupus|neonatal lupus syndrome MESH:C536397|SCTID:95609003|EFO:0004537|Orphanet:398124|ICD10:M32.8|NCIT:C99236|UMLS:C0409979|GARD:0009563 owl:Class MONDO:0024607 biolink:NamedThing congenital muscular dystrophy with cataracts and intellectual disability A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, congenital, with cataracts and intellectual disability|MDCCAID OMIM:617404|EFO:0009149|UMLS:C4479410|DOID:0080197 owl:Class HGNC:12472 biolink:NamedThing UBE2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002338 biolink:NamedThing extratemporal epilepsy An epilepsy syndrome that is located in an area of the brain other than the temporal lobe. tmpaxzxjjyw_mondo_relaxed.owl extratemporal epilepsy ICD9:345.80|NCIT:C7760|DOID:2544|UMLS:C0270849|SCTID:111498005 owl:Class MONDO:0019388 biolink:NamedThing pelvis syndrome PELVIS is an acronym defining the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported. tmpaxzxjjyw_mondo_relaxed.owl perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome|Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome|urorectal septum malformation sequence|lumbar syndrome UMLS:C4510867|UMLS:CN206083|SCTID:725138002|ICD10:Q87.8|Orphanet:83628 owl:Class MONDO:0020522 biolink:NamedThing Ehlers-Danlos syndrome type 7B tmpaxzxjjyw_mondo_relaxed.owl EDSARTH2|Ehlers-Danlos syndrome, type VIIB, autosomal dominant|EDS VIIB|Ehlers-Danlos syndrome, arthrochalasia type, 2 Orphanet:99876|GTR:AN1112965|UMLS:C1851801|GTR:AN1112966|GTR:AN1112967|MESH:C565061|GTR:AN1112503|OMIM:130060|ICD10:Q79.6|UMLS:CN706304 owl:Class MONDO:0007525 biolink:NamedThing Ehlers-Danlos syndrome, arthrochalasis type Arthrochalasia Ehlers-Danlos syndrome (aEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, arthrochalasia type, 1|EDS 7A|Ehlers-Danlos syndrome type 7A (formerly)|Ehlers-Danlos syndrome type 7|Ehlers-Danlos syndrome, arthrochalasia type|EDS7A (formerly)|EDS VII, mutant procollagen type|Ehlers-Danlos syndrome, type VIIA, autosomal dominant|AEDS|EDS VII|EDSARTH1|Ehlers-Danlos syndrome, type VII|arthrochalasia Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, type VII, autosomal dominant|arthrochalasia EDS|EDS 7B|arthrochalasis multiplex congenita MESH:C562625|OMIM:130060|ICD10:Q79.6|GARD:0002084|NCIT:C125701|SCTID:4170004|Orphanet:1899|Orphanet:99876|UMLS:C1851801|Orphanet:99875|UMLS:CN200649 https://rarediseases.info.nih.gov/diseases/2084/arthrochalasia-ehlers-danlos-syndrome owl:Class MONDO:0001087 biolink:NamedThing schizotypal personality disorder A disorder characterized by an enduring pattern of inability to establish close relationships coupled with cognitive or perceptual distortions, odd beliefs and speech, and eccentric behavior and appearance. tmpaxzxjjyw_mondo_relaxed.owl ICD9:301.22|MESH:D012569|ICD10:F21|DOID:10646|SCTID:31027006|NCIT:C92632 owl:Class HP:0000142 biolink:NamedThing Abnormal vagina morphology Any structural abnormality of the vagina. tmpaxzxjjyw_mondo_relaxed.owl Vaginal malformation UMLS:C1856023 HP:0008650 human_phenotype owl:Class MONDO:0003808 biolink:NamedThing mediastinal extraskeletal osteosarcoma An osteosarcoma arising from the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl mediastinum osteosarcoma (disease)|osteogenic sarcoma of the mediastinum|osteogenic sarcoma of mediastinum|osteosarcoma of the mediastinum|mediastinal osteosarcoma|mediastinal extraskeletal osteosarcoma|osteosarcoma of mediastinum|mediastinal osteogenic sarcoma DOID:6208|UMLS:C1334675|NCIT:C6615 owl:Class MONDO:0022567 biolink:NamedThing bhaskar jagannathan syndrome tmpaxzxjjyw_mondo_relaxed.owl MESH:C535437|UMLS:C2930901 owl:Class HGNC:24464 biolink:NamedThing CHST14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:28909 biolink:NamedThing CCDC22 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021115 biolink:NamedThing luminal B breast carcinoma A biologic subset of breast carcinoma defined by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. This subtype of breast cancer is associated with a good prognosis, although not as favorable as the luminal A subtype. tmpaxzxjjyw_mondo_relaxed.owl Luminal B subtype of breast carcinoma|Luminal B breast cancer|Luminal B breast carcinoma|Luminal B estrogen receptor positive subtype of breast carcinoma|Luminal B UMLS:C3642346|NCIT:C53555 owl:Class MONDO:0004990 biolink:NamedThing breast tumor luminal A or B Subsets of breast carcinoma defined by expression of genes characteristic of luminal epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl luminal breast cancer|luminal breast carcinoma|breast tumor luminal DOID:0060548|EFO:0000306|NCIT:C53555|NCIT:C53554 owl:Class GO:0033239 biolink:NamedThing negative regulation of cellular amine metabolic process Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amines. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of amine metabolism owl:Class MONDO:0006655 biolink:NamedThing aortic valve prolapse The downward displacement of the cuspal or pointed end of the trileaflet aortic valve causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ascending aorta back into the left ventricle, leading to aortic regurgitation. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10057454|MESH:D001023|UMLS:C0003505|DOID:5232|EFO:1000815 owl:Class MONDO:0017869 biolink:NamedThing chondroectodermal dysplasia with night blindness Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q77.6|Orphanet:319195 owl:Class MONDO:0032924 biolink:NamedThing ciliary dyskinesia, primary, 45 tmpaxzxjjyw_mondo_relaxed.owl CILD45|Ciliary Dyskinesia, Primary, 45, Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 45 OMIM:618801 owl:Class HP:0005508 biolink:NamedThing Monoclonal immunoglobulin M proteinemia Presence of a monoclonal immunoglobulin M protein in the serum. tmpaxzxjjyw_mondo_relaxed.owl Waldenstrom macroglobulinemia MSH:D008258|SNOMEDCT_US:190818004|SNOMEDCT_US:190817009|SNOMEDCT_US:35562000|UMLS:C0024419 This is a characteristic feature of Waldenstrom macroglobulinemia (WM), which is defined as a B-cell lymphoplasmacytic lymphoma, characterized by monoclonal immunoglobulin M protein in the serum and infiltration of bone marrow with lymphoplasmacytic cells. human_phenotype owl:Class HP:0005523 biolink:NamedThing Lymphoproliferative disorder tmpaxzxjjyw_mondo_relaxed.owl Lymphoproliferative disorders MSH:D008232|SNOMEDCT_US:77121009|SNOMEDCT_US:84631004|SNOMEDCT_US:277466009|SNOMEDCT_US:414629003|UMLS:C0024314 human_phenotype owl:Class NCIT:C12913 biolink:NamedThing Abnormal Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001392 biolink:NamedThing monocular exotropia tmpaxzxjjyw_mondo_relaxed.owl ICD9:378.11|SCTID:5725006|ICD10:H50.11|DOID:11853|UMLS:C0152206|MESH:D005099 owl:Class MONDO:0017554 biolink:NamedThing radio-ulnar synostosis, unilateral tmpaxzxjjyw_mondo_relaxed.owl radio-ulnar fusion, unilateral ICD10:Q74.0|UMLS:CN203290|Orphanet:295217 owl:Class HGNC:6903 biolink:NamedThing MAT1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001557 biolink:NamedThing olecranon bursitis A bursitis that involves the olecranon. tmpaxzxjjyw_mondo_relaxed.owl capped elbow|elbow bursitis|bursitis of olecranon|shoe boil|bursitis of elbow region|olecranon bursitis|elbow bursitis (& olecranon)|bursitis of elbow|Miners' elbow|miner's elbow UMLS:C3887895|DOID:12581|SCTID:425940002|ICD10:M70.2|ICD9:726.33|UMLS:C0263962 owl:Class MONDO:0034987 biolink:NamedThing intraductal tubulopapillary neoplasm of pancreas tmpaxzxjjyw_mondo_relaxed.owl Orphanet:580572 owl:Class MONDO:0022820 biolink:NamedThing congenital articular rigidity tmpaxzxjjyw_mondo_relaxed.owl GARD:0001473 https://rarediseases.info.nih.gov/diseases/1473/congenital-articular-rigidity owl:Class MONDO:0010506 biolink:NamedThing intellectual disability, X-linked 61 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked 61|RLIM non-syndromic X-linked intellectual disability|non-syndromic X-linked intellectual disability caused by mutation in RLIM|intellectual disability, X-linked type 61|MRX61|mental retardation, X-linked 61|mental retardation, X-linked type 61 OMIM:300978|UMLS:C4283894 owl:Class MONDO:0002088 biolink:NamedThing partial retinal vein occlusion tmpaxzxjjyw_mondo_relaxed.owl partial occlusion of retinal vein|partial retinal vein occlusion UMLS:C0271080|SCTID:65593009|ICD10:H34.82|DOID:1726|NCIT:C35341 owl:Class MONDO:0020321 biolink:NamedThing acute undifferentiated leukemia A rare acute leukemia of ambiguous lineage in which the blasts do not express markers specific to myeloid or lymphoid lineage. tmpaxzxjjyw_mondo_relaxed.owl stem cell acute leukemia|acute myeloid leukemia, minimal differentiation, FAB M0|leukemia stem cell|stem cell leukemia|AUL|undifferentiated acute leukemia|acute undifferentiated leukemia SCTID:359631009|UMLS:C0856823|ICD10:C95.0|UMLS:C1282947|NCIT:C9298|MedDRA:10045516|ONCOTREE:AUL|Orphanet:98835|OMIM:601626|UMLS:C0280141 owl:Class MONDO:0010890 biolink:NamedThing acrocardiofacial syndrome Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl ACFS|CCGE|cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly|acrocardiofacial syndrome|cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome|CCGE syndrome GARD:0001167|ICD10:Q87.8|UMLS:C1838121|Orphanet:2008|MESH:C563936|OMIM:600460 owl:Class MONDO:0017475 biolink:NamedThing macrodactyly of toes tmpaxzxjjyw_mondo_relaxed.owl macrodactyly of the foot|Megalodactyly of the foot|macrodactyly of foot|megalodactylism of the foot Orphanet:295047|ICD10:Q74.2|MESH:C537719|HP:0100747|GARD:0006951 owl:Class UBERON:0001189 biolink:NamedThing left testicular artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012098 biolink:NamedThing spinocerebellar ataxia type 20 Spinocerebellar ataxia type 20 (SCA20) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia with dysphonia|SCA20|spinocerebellar ataxia 20|spinocerebellar ataxia type 20|chromosome 11q12 duplication syndrome, 260-Kb|spinocerebellar ataxia with spasmodic cough SCTID:718771009|MESH:C537199|UMLS:C1837541|GARD:0009997|DOID:0050971|ICD10:G11.2|Orphanet:101110|OMIM:608687 owl:Class MONDO:0032851 biolink:NamedThing intellectual developmental disorder with impaired language and dysmorphic facies tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES|IDDILF OMIM:618653 owl:Class MONDO:0012457 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 2 tmpaxzxjjyw_mondo_relaxed.owl IHPS2|pyloric stenosis, infantile hypertrophic, 2 UMLS:C1853228|OMIM:610260|MESH:C565208 owl:Class MONDO:0011886 biolink:NamedThing torsion dystonia 13 DYT13 type primary dystonia is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement. tmpaxzxjjyw_mondo_relaxed.owl DYT13|primary torsion dystonia with predominant craniocervical or upper limb onset|primary dystonia with mixed phenotype|primary dystonia, DYT13 type|torsion dystonia type 13|dystonia 13, torsion, autosomal dominant OMIM:607671|SCTID:719278006|Orphanet:98807|DOID:0090037|MESH:C564354|ICD10:G24.1 owl:Class MONDO:0008342 biolink:NamedThing pubic bone dysplasia tmpaxzxjjyw_mondo_relaxed.owl pubic bone dysplasia UMLS:C1867436|OMIM:178350|MESH:C566735 owl:Class MONDO:0019985 biolink:NamedThing drug-related renal tubular dysgenesis tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q63.8|Orphanet:97368 owl:Class MONDO:0024382 biolink:NamedThing circadian rhythm sleep disorder, shift work type A circadian sleep disorder that occurs when work schedules force people to be awake when their circadian rhythms dictate that they should be sleeping. It is classified as a Circadian Rhythm Disorder (CRD) and is extrinsic, i.e. caused by external behavioral factors. tmpaxzxjjyw_mondo_relaxed.owl shift work disorder|circadian rhythm sleep disorder of shift work type SCTID:713498009|ICD10:G47.26 owl:Class UBERON:0003390 biolink:NamedThing mesothelium of pleural cavity tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022316 biolink:NamedThing hair defect with photosensitivity and intellectual disability syndrome Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. tmpaxzxjjyw_mondo_relaxed.owl hair defect with photosensitivity and intellectual disability syndrome SCTID:721007005 owl:Class UBERON:0006444 biolink:NamedThing annulus fibrosus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043129 biolink:NamedThing merlob grunebaum reisner syndrome tmpaxzxjjyw_mondo_relaxed.owl familial opposable triphalangeal thumbs associated with duplication of the big toes MESH:C537461|UMLS:C2931499|GARD:0003545 owl:Class MONDO:0006040 biolink:NamedThing lactic acidosis Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98969|MESH:D000140|UMLS:C0001125|SCTID:91273001 owl:Class MONDO:0044648 biolink:NamedThing kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome tmpaxzxjjyw_mondo_relaxed.owl kyphoscoliosis-lateral tongue atrophy-HSP syndrome Orphanet:496689 owl:Class NCBITaxon:8049 biolink:NamedThing Gadus morhua tmpaxzxjjyw_mondo_relaxed.owl Atlantic cod GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:8048 biolink:NamedThing Gadus tmpaxzxjjyw_mondo_relaxed.owl Theragra GC_ID:1 NCBITaxon:48549 ncbi_taxonomy owl:Class MONDO:0012705 biolink:NamedThing familial temporal lobe epilepsy 3 tmpaxzxjjyw_mondo_relaxed.owl familial mesial temporal lobe epilepsy|epilepsy, familial mesial temporal lobe|epilepsy, familial temporal lobe, 3|FMTLE|ETL3|familial temporal lobe epilepsy type 3 MESH:C566903|OMIM:611630|Orphanet:163717|DOID:0060750|UMLS:C1968848 MONDO:0000823 owl:Class MONDO:0017770 biolink:NamedThing Robinow-like syndrome Robinow-like syndrome is characterized by the association of the clinical features present in Robinow syndrome (short stature, mesomelic brachymelia, macrocephaly, and hypoplastic genitalia), with anterior chamber cleavage anomalies. It has been described in two sisters and is transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl Saal-Greenstein syndrome Orphanet:3105|UMLS:CN203671|ICD10:Q87.1|SCTID:721905000|UMLS:C4302956 owl:Class MONDO:0001914 biolink:NamedThing scleromalacia perforans A rare form of necrotizing anterior scleritis without pain in which the sclera is notably white, avascular and thin. Both choroidal exposure and staphyloma formation may occur. tmpaxzxjjyw_mondo_relaxed.owl DOID:14230|UMLS:C0155354|ICD10:H15.05|SCTID:26664005|ICD9:379.04 owl:Class MONDO:0040699 biolink:NamedThing necrotizing scleritis A severe form of scleritis with subtypes: necrotising zonal granulomatous inflammation, diffuse non-granulomatous chronic inflammation, mixed pattern of acute purulent inflammation mixed with granulomatous inflammation and sarcoidal pattern. tmpaxzxjjyw_mondo_relaxed.owl SCTID:95797003|ICD9:379.09 owl:Class HGNC:582 biolink:NamedThing APBB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4136 biolink:NamedThing GAMT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012951 biolink:NamedThing colorectal cancer, susceptibility to, 8 tmpaxzxjjyw_mondo_relaxed.owl colorectal cancer, susceptibility to, on chromosome 14Q|colorectal cancer, susceptibility to, 8|CRCS8 OMIM:612589 owl:Class MONDO:0008079 biolink:NamedThing neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome tmpaxzxjjyw_mondo_relaxed.owl duodenal carcinoid syndrome|neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome|Npdc syndrome OMIM:162240|UMLS:C1834232|GARD:0010543|MESH:C563522 owl:Class MONDO:0019068 biolink:NamedThing congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization Congenital membranous nephropathy due to maternal anti-neutral endopeptidase (NEP) alloimmunization (CMNEPA) is a glomerular disease characterized by severe renal failure and nephrotic syndrome at birth, which rapidly improve in the first weeks of life. tmpaxzxjjyw_mondo_relaxed.owl neonatal glomerulopathy due to Neprilysin alloimmunization|alloimmune neonatal renal disease|neonatal membranous glomerulopathy with maternal NEP deficiency|fetomaternal alloimmunization with antenatal glomerulopathies|neonatal glomerulopathy due to neprilysin alloimmunization|neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency|FMAIG SCTID:725592009|UMLS:C4511239|Orphanet:69063|ICD10:P96.0 owl:Class MONDO:0006521 biolink:NamedThing acneiform dermatitis Cutaneous eruptions resembling acne, characterized by the presence of papulonodules, pustules, comedones, or cysts in the face, trunk, and extremities. Causes include infections and the use of certain medications (e.g., antibiotics and steroids). tmpaxzxjjyw_mondo_relaxed.owl Rash acneiform EFO:1000662|UMLS:C0234894|DOID:4399|NCIT:C35277 owl:Class MONDO:0054733 biolink:NamedThing spermatogenic failure 29 tmpaxzxjjyw_mondo_relaxed.owl SPGF29|spermatogenic failure 29 OMIM:618091 owl:Class SO:0000669 biolink:NamedThing sequence_rearrangement_feature A feature where a segment of DNA has been rearranged from what it was in the parent cell. tmpaxzxjjyw_mondo_relaxed.owl sequence rearrangement feature owl:Class SO:0000298 biolink:NamedThing recombination_feature A feature where there has been exchange of genetic material in the event of mitosis or meiosis tmpaxzxjjyw_mondo_relaxed.owl INSDC_qualifier:other|INSDC_feature:misc_recomb|recombination feature owl:Class MONDO:0003305 biolink:NamedThing cellular neurofibroma A neurofibroma characterized by the presence of areas with increased cellularity. tmpaxzxjjyw_mondo_relaxed.owl cellular neurofibroma DOID:5152|NCIT:C41427|UMLS:C1516371 owl:Class MONDO:0006018 biolink:NamedThing Wissler syndrome A rheumatic syndrome of possibly allergic origin, usually affecting children and adolescents, and characterized by high fever, exanthema, arthralgia, leukocytosis, and increased sedimentation rate. tmpaxzxjjyw_mondo_relaxed.owl Wissler's syndrome|Wissler-Fanconi syndrome (finding)|Wissler's subsepsis allergica|Wissler syndrome UMLS:C0043195|DOID:3047|MESH:D014924|EFO:0007547 owl:Class MONDO:0001454 biolink:NamedThing Blessig's cysts tmpaxzxjjyw_mondo_relaxed.owl Blessig cysts|Iwanoff's cysts|Microcystoid retinal degeneration|Microcystoid degeneration of retina SCTID:37075008|ICD9:362.62|ICD10:H35.42|UMLS:C0154855|DOID:12164 owl:Class MONDO:0022468 biolink:NamedThing antigen-peptide-transporter 2 deficiency An inborn errors of metabolism disorder caused by homozygosity for mutations in the TAP2 gene. It is characterizeed by nonhealing, chronic, ulcerative granulomatous leg lesions combined with recurrent otitis media and sinopulmonary infections. tmpaxzxjjyw_mondo_relaxed.owl TAP 2 deficiency|antigen processing (TAP) deficiency syndrome GARD:0000732 https://rarediseases.info.nih.gov/diseases/732/antigen-peptide-transporter-2-deficiency owl:Class HGNC:11740 biolink:NamedThing TF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013335 biolink:NamedThing tuberculin skin test reactivity, absence of tmpaxzxjjyw_mondo_relaxed.owl Tst1|tst reactivity, absence of|tuberculin skin test reactivity, absence of OMIM:613636 owl:Class MONDO:0020383 biolink:NamedThing fundus pulverulentus Fundus pulverulentus is a rare form of patterned dystrophy of the retinal pigment epithelium characterized by a granular appearance in the macula, with coarse and punctiform mottling of the retinal pigment epithelium within the macular region. Association with choroidal neovascularization has been reported. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207257|Orphanet:99004|ICD10:H35.5 owl:Class MONDO:0015731 biolink:NamedThing high anorectal malformation High anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies, with or without a rectourogenital fistula, located above the pubococcygeal line (i.e. anorectal agenesis, rectal agenesis, atresia, or stenosis). Patients may present with meconuria, pyuria, strangury, and fecal and urinary incontinence. tmpaxzxjjyw_mondo_relaxed.owl ICD9:751.5|SCTID:253771003|Orphanet:171201|ICD10:Q42.0|ICD10:Q42.1 owl:Class GO:0016250 biolink:NamedThing N-sulfoglucosamine sulfohydrolase activity Catalysis of the reaction: N-sulfo-D-glucosamine + H2O = D-glucosamine + sulfate. tmpaxzxjjyw_mondo_relaxed.owl N-sulfo-D-glucosamine sulfohydrolase activity|2-desoxy-D-glucoside-2-sulphamate sulphohydrolase (sulphamate sulphohydrolase)|sulfoglucosamine sulfamidase activity|N-sulphoglucosamine sulphohydrolase activity|heparin sulfamidase activity|sulphamidase activity owl:Class NCBITaxon:33265 biolink:NamedThing Dictyocaulinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0024686 biolink:NamedThing tenosynovial giant cell tumor, diffuse type A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion. tmpaxzxjjyw_mondo_relaxed.owl tenosynovial giant cell tumor diffuse type|tenosynovial giant cell tumor, diffuse type|diffuse giant cell tumor of the Tenosynovium|diffuse tenosynovial giant cell tumor|diffuse giant cell tumor of tendon sheath|diffuse tenosynovial giant cell neoplasm|pigmented villonodular synovitis|diffuse giant cell neoplasm of tendon sheath|diffuse giant cell tumor of Tenosynovium|diffuse giant cell neoplasm of Tenosynovium|diffuse giant cell neoplasm of the Tenosynovium ICDO:9251/0|NCIT:C3401|ONCOTREE:TGCT owl:Class MONDO:0009407 biolink:NamedThing hypertrophic neuropathy and cataract tmpaxzxjjyw_mondo_relaxed.owl hypertrophic neuropathy and cataract MESH:C565490|OMIM:239900|UMLS:C1855885 owl:Class GO:0033059 biolink:NamedThing cellular pigmentation The deposition or aggregation of coloring matter in a cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003069 biolink:NamedThing suppurative lymphadenitis A form of lymphadenitis that is characterized by formation of pus; it is most often caused by staphylococcal or streptococcal bacteria. tmpaxzxjjyw_mondo_relaxed.owl suppurative lymphadenopathy SCTID:48573006|NCIT:C27135|ICD9:457.8|DOID:4639|UMLS:C0392051 owl:Class UBERON:0014636 biolink:NamedThing thoracic spinal cord gray matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003227 biolink:NamedThing prosopagnosia Impaired ability to recognize other human faces in the absence of a vision disorder. It may be a congenital disorder or the result of brain injury. tmpaxzxjjyw_mondo_relaxed.owl prosopagnosia|face blindness|prosopagnosia (disease) prosopagnosia (disease) HP:0010528|DOID:4970|ICD10:R48.3|NCIT:C85031 owl:Class MONDO:0020371 biolink:NamedThing essential iris atrophy Essential iris atrophy is a clinical variant of iridocorneal endothelial (ICE) syndrome, characterized by progressive iris atrophy and holes present on the surface of the iris, corneal edema, corectopia, uveal ectropion and anterior synechiae. Secondary glaucoma is also a common complication of the disease. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207238|Orphanet:98981|SCTID:25913001|ICD9:364.51|ICD10:H21.2|UMLS:C0271111 owl:Class MONDO:0007531 biolink:NamedThing electroencephalographic peculiarity: fronto-precentral beta wave groups tmpaxzxjjyw_mondo_relaxed.owl electroencephalographic peculiarity: fronto-precentral beta wave groups OMIM:130300 owl:Class FOODON:03420122 biolink:NamedThing nonmeat part of animal Bone, feathers, shell, skin or trim fat. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010798 biolink:NamedThing proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus. tmpaxzxjjyw_mondo_relaxed.owl proximal tubulopathy, diabetes mellitus and cerebellar ataxia|renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA|renal tubulopathy, diabetes mellitus, and cerebellar ataxia GARD:0004532|ICD10:Q87.8|OMIM:560000|Orphanet:3390|UMLS:C3151959|MESH:C564014 owl:Class MONDO:0029143 biolink:NamedThing intellectual developmental disorder with hypertelorism and distinctive facies tmpaxzxjjyw_mondo_relaxed.owl chromosome 14q32 deletion syndrome|IDDHDF|INTELLECTUAL DEVELOPMENTAL disorder WITH HYPERTELORISM AND DISTINCTIVE FACIES OMIM:618147 owl:Class ECTO:1000007 biolink:NamedThing exposure to high temperature environment A exposure event involving the interaction of an exposure receptor to high temperature environment. tmpaxzxjjyw_mondo_relaxed.owl high temperature environment exposure owl:Class GO:0004970 biolink:NamedThing ionotropic glutamate receptor activity Catalysis of the transmembrane transfer of an ion by a channel that opens when glutamate has been bound by the channel complex or one of its constituent parts. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009882 biolink:NamedThing plasma clot retraction factor, deficiency of tmpaxzxjjyw_mondo_relaxed.owl plasma clot retraction factor, deficiency of UMLS:C1849778|OMIM:262800|MESH:C564885 owl:Class MONDO:0013680 biolink:NamedThing cognitive impairment with or without cerebellar ataxia tmpaxzxjjyw_mondo_relaxed.owl cognitive impairment with or without cerebellar ataxia|CIAT UMLS:C3280415|OMIM:614306 owl:Class HGNC:18821 biolink:NamedThing LIPI tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003738 biolink:NamedThing selective IgE deficiency disease A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons appear asymptomatic but may show a predisposition to autoimmune and respiratory diseases. tmpaxzxjjyw_mondo_relaxed.owl selective IgE immunodeficiency|selective immunoglobulin E deficiency NCIT:C27143|SCTID:234540007|ICD9:279.03|DOID:6024|UMLS:C0398694 owl:Class HGNC:11920 biolink:NamedThing FAS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012344 biolink:NamedThing Alzheimer disease 11 An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. tmpaxzxjjyw_mondo_relaxed.owl AD11|Alzheimer's disease type 11|Ad11|Alzheimer disease, familial, 11|Alzheimer disease 11|Alzheimer disease type 11|Alzheimer's disease 11 OMIM:609790|MESH:C565228|DOID:0110044|ICD10:G30|UMLS:C1853360 owl:Class MONDO:0007409 biolink:NamedThing cryptomicrotia-brachydactyly-excess fingertip arch syndrome Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988. tmpaxzxjjyw_mondo_relaxed.owl Tonoki-Ohura-Niikawa syndrome|CRYPTOMICROTIA-brachydactyly syndrome|Cryptomicrotia-brachydactyly syndrome|Cryptomicrotia brachydactyly syndrome|Tonoki Ohura Niikawa syndrome|Cryptomicrotia brachydactyly syndrome excess fingertip arch|bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch MESH:C536219|Orphanet:1547|OMIM:123560|UMLS:C1852454|ICD10:Q87.8|GARD:0008174|SCTID:725096002 owl:Class MONDO:0008607 biolink:NamedThing triphalangeal thumbs-brachyectrodactyly syndrome Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl triphalangeal thumb and brachy-ectrodactyly syndrome|Carnevale-Hernández-del Castillo syndrome|triphalangeal thumbs brachyectrodactyly|triphalangeal thumbs with brachyectrodactyly|triphalangeal thumb and brachyectrodactyly syndrome OMIM:190680|GARD:0005290|MESH:C536564|Orphanet:2947|ICD10:Q74.8|UMLS:C1860804 owl:Class NCBITaxon:6281 biolink:NamedThing Onchocerca tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016514 biolink:NamedThing epidermolysis bullosa simplex with anodontia/hypodontia tmpaxzxjjyw_mondo_relaxed.owl Kallin syndrome|Gamborg-Nielsen syndrome ICD10:Q81.0|Orphanet:2325 owl:Class HP:0001876 biolink:NamedThing Pancytopenia An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). tmpaxzxjjyw_mondo_relaxed.owl uk_spelling|Low blood cell count UMLS:C0030312|MSH:D010198|SNOMEDCT_US:127034005 human_phenotype owl:Class MONDO:0024381 biolink:NamedThing circadian rhythm sleep disorder, jet lag type A circadian sleep disorder that results from travelling across time zones. tmpaxzxjjyw_mondo_relaxed.owl jet lag ICD10:G47.25|UMLS:C0231311 owl:Class MONDO:0032935 biolink:NamedThing rhizomelic limb shortening with dysmorphic features tmpaxzxjjyw_mondo_relaxed.owl RLSDF|RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES OMIM:618821 owl:Class MONDO:0015716 biolink:NamedThing moderately severe hemophilia B Moderately severe hemophilia B is a form of hemophilia B characterized by factor IX deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpaxzxjjyw_mondo_relaxed.owl moderately severe factor IX deficiency|moderately severe hemophilia type B UMLS:CN200228|ICD10:D67|Orphanet:169796 owl:Class UBERON:0004263 biolink:NamedThing upper arm skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025353 biolink:NamedThing developmental and epileptic encephalopathy, 90 tmpaxzxjjyw_mondo_relaxed.owl developmental and epileptic encephalopathy 90|DEE90 OMIM:301058 owl:Class MONDO:0022098 biolink:NamedThing catamenial pneumothorax Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.Treatment is with hormones and surgery. tmpaxzxjjyw_mondo_relaxed.owl catamenial pneumothorax|premenstrual pneumothorax UMLS:C0340007|GARD:0009858|SCTID:233642001|MESH:C538279 https://rarediseases.info.nih.gov/diseases/9858/catamenial-pneumothorax owl:Class MONDO:0003138 biolink:NamedThing subacute glomerulonephritis A term that refers to glomerular damage resulting in hematuria, proteinuria, and azotemia. The histopathologic changes include rapidly progressive glomerulonephritis and membranoproliferative glomerulonephritis. tmpaxzxjjyw_mondo_relaxed.owl DOID:4782|UMLS:C1263744|SCTID:123609007|NCIT:C35801 owl:Class UBERON:0007303 biolink:NamedThing pharyngeal vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019484 biolink:NamedThing hypothalamic hamartomas with gelastic seizures A rare cerebral malformation with epilepsy syndrome characterized by early-onset gelastic (i.e. ictal laughter) or dacrystic (i.e., ictal crying) seizures due to non-neoplastic developmental malformation - hypothalamic hamartomas. In many patients, seizures progress to other seizure types including focal and generalized seizures, with concomitant cognitive decline and behavioral disorders. Some patients also present a precocious puberty. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:86906|ICD10:G40.5 owl:Class MONDO:0018716 biolink:NamedThing partially involuting congenital hemangioma A clinical subtype of congenital hemangioma that begins as a rapidly involuting congenital hemangioma (RICH) but fails to completely involute and persists as a non-involuting congenital hemangioma (NICH)-like lesion tmpaxzxjjyw_mondo_relaxed.owl PICH ICD10:D18.0|Orphanet:458785 owl:Class MONDO:0030042 biolink:NamedThing proteinuria, chronic benign tmpaxzxjjyw_mondo_relaxed.owl PROTEINURIA, CHRONIC BENIGN|proteinuria, chronic benign|PROCHOB OMIM:618884 owl:Class MONDO:0033009 biolink:NamedThing Galloway-Mowat syndrome 5 tmpaxzxjjyw_mondo_relaxed.owl Galloway-Mowat syndrome 5|GAMOS5 UMLS:CN570507|Orphanet:2065|DOID:0080247|OMIM:617731 owl:Class MONDO:0100378 biolink:NamedThing acute myeloid leukemia, t(10;11)(p11.2;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p11.2;q23). (A cytogenetic abnormality that refers to the translocation of the short arm (p11.2) of chromosome 10 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/ABI1 fusions and acute myeloid leukemia.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(10;11)(p11.2;q23) NCIT:C168758 owl:Class MONDO:0009751 biolink:NamedThing neuropathy, hereditary sensory, atypical A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. tmpaxzxjjyw_mondo_relaxed.owl atypical hereditary sensory neuropathy|neuropathy, hereditary sensory, atypical MESH:C564946|UMLS:C1850384|OMIM:256860|DOID:0070160 owl:Class MONDO:0006096 biolink:NamedThing atypical endometrial hyperplasia An endometrial hyperplasia characterized by cytologic and architectural changes which may lead to endometrial carcinoma. Despite the atypical features and possible course, there is debate on whether to consider this a neoplasm. The relationship with endometrial intraepithelial neoplasia is also unclear. tmpaxzxjjyw_mondo_relaxed.owl endometrial hyperplasia with atypia|atypical hyperplasia of the endometrium|atypical hyperplasia of endometrium UMLS:C0349579|NCIT:C4654|EFO:1000098|SCTID:277158007|ICD9:621.33 owl:Class MONDO:0009608 biolink:NamedThing methionine malabsorption syndrome tmpaxzxjjyw_mondo_relaxed.owl oasthouse urine disease|methionine malabsorption syndrome|Smith-strang disease UMLS:C0268622|MESH:C562682|OMIM:250900|SCTID:45812003 owl:Class NCBITaxon:29171 biolink:NamedThing Dictyocaulus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008098 biolink:NamedThing mesomelic dwarfism, Nievergelt type tmpaxzxjjyw_mondo_relaxed.owl Nievergelt syndrome|mesomelic dwarfism Nievergelt type|mesomelic dysplasia, Nievergelt type|radioulnar synostosis and a typical rhomboid shape of the tibia and fibula MESH:C536120|SCTID:33979003|GARD:0003554|OMIM:163400|UMLS:C0432231|ICD10:Q78.8|Orphanet:2633 owl:Class MONDO:0014650 biolink:NamedThing familial temporal lobe epilepsy 8 A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13. tmpaxzxjjyw_mondo_relaxed.owl ETL8|familial temporal lobe epilepsy type 8|epilepsy, familial temporal lobe, type 8|epilepsy, familial temporal lobe, 8 UMLS:C4225318|OMIM:616461|Orphanet:101046|DOID:0060754 owl:Class MONDO:0014947 biolink:NamedThing developmental and epileptic encephalopathy, 46 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene. tmpaxzxjjyw_mondo_relaxed.owl DEE46|GRIN2D early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, type 46|epileptic encephalopathy, early infantile, 46; EIEE46|epileptic encephalopathy, early infantile, 46|early infantile epileptic encephalopathy caused by mutation in GRIN2D|EIEE46 UMLS:C4310687|OMIM:617162|DOID:0080456 owl:Class MONDO:0037256 biolink:NamedThing serous neoplasm tmpaxzxjjyw_mondo_relaxed.owl serous neoplasm UMLS:C1335951|NCIT:C7074 owl:Class MONDO:0003433 biolink:NamedThing water-clear cell adenoma A rare parathyroid gland adenoma composed of neoplastic cells with abundant cytoplasm. The cytoplasm of the neoplastic cells is usually not entirely clear, and is often variably vacuolated, foamy, and granular. tmpaxzxjjyw_mondo_relaxed.owl parathyroid gland water-clear cell adenoma|water-clear cell adenoma (morphologic abnormality) DOID:5401|NCIT:C4155|ICDO:8322/0|UMLS:C0334321 owl:Class MONDO:0009939 biolink:NamedThing pulmonic stenosis and congenital nephrosis tmpaxzxjjyw_mondo_relaxed.owl pulmonic stenosis and congenital nephrosis SCTID:236530006|OMIM:265600|UMLS:C0403552|MESH:C562895 owl:Class MONDO:0017659 biolink:NamedThing sporadic hyperekplexia tmpaxzxjjyw_mondo_relaxed.owl ICD10:G25.8|Orphanet:306776 owl:Class MONDO:0009571 biolink:NamedThing Meckel syndrome, type 1 Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene. tmpaxzxjjyw_mondo_relaxed.owl Gruber syndrome|Dysencephalia splachnocystica|Meckel syndrome type1|Meckel-Gruber syndrome|Meckel syndrome, type 1|MKS1|Meckel syndrome|MKS1 Meckel syndrome|Dysencephalia Splanchnocystica|Mes|Meckel Gruber syndrome|Meckel syndrome 1|Meckel syndrome caused by mutation in MKS1|Meckel-Gruber syndrome, type 1|MKS DOID:0070115|OMIM:249000|MESH:C536133|Orphanet:564|ICD10:Q61.9|UMLS:C3714506 owl:Class MONDO:0019445 biolink:NamedThing trichofolliculoma Trichofolliculoma is a rare benign follicular hamartoma that develops primarily on the face of adults, with a particular predilection for the back of the nose, but also on the neck or scalp. It presents as a solitary hemispheric flesh-colored nodule with a central pore or black dot that may contain a tuft of hair. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334262|ICDO:8101/0|MedDRA:10044611|GARD:0005263|SCTID:274899008|MESH:C536553|NCIT:C4112|Orphanet:864 https://rarediseases.info.nih.gov/diseases/5263/trichofolliculoma owl:Class MONDO:0009021 biolink:NamedThing Toriello-Carey syndrome Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia. tmpaxzxjjyw_mondo_relaxed.owl corpus callosum agenesis-blepharophimosis-Robin sequence syndrome|Toriello-Carey syndrome|corpus callosum agenesis facial anomalies Robin sequence|corpus callosum, agenesis of, with facial anomalies and ROBIN sequence|agenesis of corpus callosum with facial anomalies and Robin sequence SCTID:722477003|Orphanet:3338|OMIM:217980|UMLS:C0796184|GARD:0005225|MESH:C563127|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/5225/toriello-carey-syndrome owl:Class MONDO:0017463 biolink:NamedThing congenital pseudoarthrosis of the femur tmpaxzxjjyw_mondo_relaxed.owl congenital pseudarthrosis of the femur Orphanet:295020|ICD10:Q74.2 owl:Class HP:0001660 biolink:NamedThing Truncus arteriosus A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. tmpaxzxjjyw_mondo_relaxed.owl Persistant truncus arteriosus|Common arterial trunk ICD-10:Q20.0|UMLS:C4020867|UMLS:C0041206|Fyler:500|Fyler:0500|MSH:D014338|SNOMEDCT_US:58140002 human_phenotype owl:Class MONDO:0007279 biolink:NamedThing cataract 7 A cataract that has material basis in variation in the region 17q24. tmpaxzxjjyw_mondo_relaxed.owl cataract 7|congenital cerulean type cataract 1|cataract 7, cerulean type|cerulean type cataract 7|CCA1|cataract, congenital, cerulean type, 1|CTRCT7|cataract type 7 Orphanet:98989|DOID:0110260|ICD10:Q12.0|OMIM:115660 owl:Class GO:0003073 biolink:NamedThing regulation of systemic arterial blood pressure The process that modulates the force with which blood travels through the systemic arterial circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022889 biolink:NamedThing craniostenosis with congenital heart disease intellectual disability tmpaxzxjjyw_mondo_relaxed.owl GARD:0001585 https://rarediseases.info.nih.gov/diseases/1585/craniostenosis-with-congenital-heart-disease-mental-retardation owl:Class MONDO:0017636 biolink:NamedThing hemiparkinsonism-hemiatrophy syndrome Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantars are frequently associated. tmpaxzxjjyw_mondo_relaxed.owl Hp-HA syndrome UMLS:CN203531|Orphanet:306669|ICD10:G20 owl:Class HGNC:987 biolink:NamedThing BCKDHB tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:83039 biolink:NamedThing crustacean metabolite An animal metabolite produced by arthropods such as crabs, lobsters, crayfish, shrimps and krill. tmpaxzxjjyw_mondo_relaxed.owl crustacean metabolites owl:Class CL:1001609 biolink:NamedThing muscle fibroblast Fibroblast from muscle organ. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-0643 owl:Class MONDO:0004165 biolink:NamedThing selective IgD deficiency disease A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class D (IgD). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgD from progenitor B cells without any corresponding decreases in the other isotypes. Most affected persons are asymptomatic and do not appear to be at increased risk for infection. tmpaxzxjjyw_mondo_relaxed.owl selective IgD immunodeficiency|selective immunoglobulin D deficiency DOID:7263|ICD9:279.03|UMLS:C0398695|SCTID:234541006|NCIT:C27144 owl:Class MONDO:0032783 biolink:NamedThing aortic valve disease 3 tmpaxzxjjyw_mondo_relaxed.owl AORTIC VALVE DISEASE 3|AOVD3 OMIM:618496 owl:Class HGNC:25522 biolink:NamedThing WRAP53 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13993 biolink:NamedThing PRDM8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018664 biolink:NamedThing ectopia cordis A rare congenital anomaly where the heart is formed outside of the thoracic cavity. It is associated with intracardiac lesions and other structural malformations. tmpaxzxjjyw_mondo_relaxed.owl ectopia cordis|ectopia cordis (disease) ectopia cordis (disease) HP:0001683|Orphanet:448270|ICD9:746.87|ICD10:Q24.8|MESH:D054083|SCTID:78250005|NCIT:C111643 owl:Class NCBITaxon:693660 biolink:NamedThing unclassified Primate lentivirus group tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019264 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency type 3 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 3 is a rare clinically heterogeneous type of NAGA deficiency with developmental, neurologic and psychiatric manifestations presenting at an intermediate age. tmpaxzxjjyw_mondo_relaxed.owl NAGA deficiency type 3|Schindler disease type 3 ICD10:E77.1|OMIM:609241|Orphanet:79281|UMLS:C1836545 owl:Class MONDO:0019745 biolink:NamedThing cystinuria type A tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93612|ICD10:E72.0|MESH:C565652|OMIM:220100 owl:Class MONDO:0006182 biolink:NamedThing digestive system mixed adenoneuroendocrine carcinoma A carcinoma that arises from the digestive system and is characterized by the presence of a malignant glandular epithelial component and a malignant neuroendocrine component. At least 30% of either component should be present for the diagnosis to be made. tmpaxzxjjyw_mondo_relaxed.owl gastrointestinal MANEC|digestive system Mixed Adenoneuroendocrine cancer|MANEC|digestive system mixed adenoneuroendocrine carcinoma|gastrointestinal mixed Adenoneuroendocrine carcinoma|mixed Adenoneuroendocrine carcinoma UMLS:C2987129|EFO:1000219|NCIT:C95406|ICDO:8244/3 owl:Class MONDO:0024546 biolink:NamedThing hypertrophic osteoarthropathy, primary, autosomal recessive, 1 Any primary hypertrophic osteoarthropathy in which the cause of the disease is a mutation in the HPGD gene. tmpaxzxjjyw_mondo_relaxed.owl Currarino idiopathic osteoarthropathy|familial idiopathic osteoarthropathy of childhood|PDP, autosomal recessive|PHOAR1|Touraine-Solente-Gole syndrome|hypertrophic osteoarthropathy, primary, autosomal recessive, 1|Pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|HPGD primary hypertrophic osteoarthropathy|Cranioosteoarthropathy|primary hypertrophic osteoarthropathy caused by mutation in HPGD OMIM:259100|Orphanet:1525|Orphanet:2796|UMLS:C0029411 owl:Class MONDO:0004571 biolink:NamedThing intestinal impaction tmpaxzxjjyw_mondo_relaxed.owl ICD10:K56.4|DOID:8448|ICD9:560.39|ICD9:560.30|SCTID:62851005|ICD10:K56.49 owl:Class MONDO:0020475 biolink:NamedThing dermotrichic syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207344|Orphanet:99688 Editor note: See PMID:1456297 owl:Class MONDO:0023016 biolink:NamedThing duplication of leg mirror foot tmpaxzxjjyw_mondo_relaxed.owl GARD:0001976 https://rarediseases.info.nih.gov/diseases/1976/duplication-of-leg-mirror-foot owl:Class MONDO:0001297 biolink:NamedThing cardiac tamponade Acute compression of the heart caused by increased intrapericardial pressure due to the collection of blood or fluid in the pericardium from rupture of the heart, penetrating trauma, or progressive effusion. tmpaxzxjjyw_mondo_relaxed.owl pericardial tamponade|rose's tamponade UMLS:C0007177|EFO:1001285|ICD10:I31.4|NCIT:C50481|ICD9:423.3|SCTID:35304003|DOID:115|MESH:D002305 owl:Class MONDO:0001370 biolink:NamedThing pericardial effusion Fluid collection within the pericardial sac, usually due to inflammation. tmpaxzxjjyw_mondo_relaxed.owl pericardial effusion (disease)|fluid, pericardial|pericardial effusion|pericardial fluid pericardial effusion (disease) SCTID:373945007|UMLS:C0031039|NCIT:C3319|DOID:118|HP:0001698 owl:Class MONDO:0010143 biolink:NamedThing lethal restrictive dermopathy Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities. tmpaxzxjjyw_mondo_relaxed.owl restrictive dermopathy|hyperkeratosis-contracture syndrome|lethal restrictive dermopathy|tight skin contracture syndrome, lethal|restrictive dermopathy, lethal|fetal hypokinesia sequence due to restrictive dermopathy|tight skin contracture syndrome UMLS:C0406585|SCTID:400128006|MESH:C536920|GARD:0001516|DOID:0060762|OMIM:275210|Orphanet:1662|ICD10:Q82.8 owl:Class UBERON:0011974 biolink:NamedThing epiphysis of proximal phalanx of pes tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012969 biolink:NamedThing microvascular complications of diabetes, susceptibility to, 5 Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene. tmpaxzxjjyw_mondo_relaxed.owl microvascular complications of diabetes, susceptibility to, type 5|retinopathy, diabetic, susceptibility to|PON1 microvascular complications of diabetes, susceptibility|MVCD5|microvascular complications of diabetes, susceptibility caused by mutation in PON1|microvascular complications of diabetes, susceptibility to, 5 OMIM:612633 owl:Class NCBITaxon:140693 biolink:NamedThing Pulicomorpha tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0014482 biolink:NamedThing intellectual disability, autosomal dominant 29 Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the SETBP1 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal dominant type 29|intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1|intellectual disability, autosomal dominant 29|intellectual disability, autosomal dominant type 29|autosomal dominant intellectual disability 29|autosomal dominant mental retardation 29|MRD29|SETBP1-related disorder|mental retardation, autosomal dominant 29|SETBP1-related intellectual disability|SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome|SETBP1 disorder|autosomal dominant non-syndromic intellectual disability 29|SETBP1 related developmental delay GARD:0013379|OMIM:616078|DOID:0070059|UMLS:C4015141|Orphanet:436151 owl:Class MONDO:0010290 biolink:NamedThing goiter, multinodular 2 tmpaxzxjjyw_mondo_relaxed.owl MNG2|goiter, multinodular 2 OMIM:300273|UMLS:C1846033|MESH:C564546 owl:Class MONDO:0015663 biolink:NamedThing diencephalic syndrome Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors. tmpaxzxjjyw_mondo_relaxed.owl diencephalic syndrome of childhood|diencephalic syndrome of emaciation|diencephalic syndrome of infancy|Russell syndrome|diencephalic cachexia|Russell diencephalic cachexia NCIT:C116955|ICD10:C72.8|UMLS:C0342436|GARD:0006276|Orphanet:1672|ICD9:253.8|SCTID:237733001|UMLS:C0271889|UMLS:CN200089 https://rarediseases.info.nih.gov/diseases/6276/diencephalic-syndrome owl:Class MONDO:0005640 biolink:NamedThing akinetic mutism A syndrome characterized by a silent and inert state without voluntary motor activity despite preserved sensorimotor pathways and vigilance. Bilateral frontal lobe dysfunction involving the anterior cingulate gyrus and related brain injuries are associated with this condition. This may result in impaired abilities to communicate and initiate motor activities. (From Adams et al., Principles of Neurology, 6th ed, p348; Fortschr Neurol Psychiatr 1995 Feb;63(2):59-67) tmpaxzxjjyw_mondo_relaxed.owl Coma vigilans (finding)|Coma vigilans SCTID:53333005|EFO:0007138|MESH:D000405|DOID:4267|UMLS:C0001889 owl:Class MONDO:0004208 biolink:NamedThing superior vena cava leiomyosarcoma An aggressive malignant smooth muscle neoplasm, arising from the superior vena cava. It is characterized by a proliferation of neoplastic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl leiomyosarcoma of the Superior vena cava|anterior vena cava leiomyosarcoma|leiomyosarcoma of anterior vena cava|leiomyosarcoma of Superior vena cava DOID:7390|UMLS:C1336531|NCIT:C6745 owl:Class MONDO:0012181 biolink:NamedThing hereditary spastic paraplegia 27 A hereditary spastic paraplegia that has material basis in variation in the chromosome region 10q22.1-q24.1. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spastic paraplegia type 27|hereditary spastic paraplegia type 27|SPG27|spastic paraplegia 27, autosomal recessive|autosomal recessive spastic paraplegia 27 UMLS:C1836899|Orphanet:101007|DOID:0110778|OMIM:609041|ICD10:G11.4|MESH:C563807 owl:Class MONDO:0032879 biolink:NamedThing megabladder, congenital tmpaxzxjjyw_mondo_relaxed.owl MEGABLADDER, CONGENITAL|MGBL OMIM:618719 owl:Class HP:0010892 biolink:NamedThing Abnormal circulating branched chain amino acid concentration Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023673 peter 2010-11-11T02:53:04Z human_phenotype owl:Class MONDO:0011506 biolink:NamedThing familial infantile myoclonic epilepsy tmpaxzxjjyw_mondo_relaxed.owl myoclonic epilepsy, familial infantile|FIME|familial infantile myoclonus epilepsy|Eim Orphanet:352582|OMIM:605021|ICD10:G40.3|UMLS:C0917800 owl:Class MONDO:0012094 biolink:NamedThing prostate cancer, hereditary, 4 tmpaxzxjjyw_mondo_relaxed.owl prostate cancer, hereditary, on chromosome 7|prostate cancer, hereditary, 4|HPC4|prostate cancer, hereditary, type 4 OMIM:608658|MESH:C563882|UMLS:C1837593 owl:Class MONDO:0013003 biolink:NamedThing isolated congenital hypoglossia/aglossia Isolated aglossia and hypoglossia are terms covering the spectrum from partial to total absence of the tongue. These congenital malformations have been classified as part of the group of oromandibular-limb hypogenesis syndromes (OLHS). tmpaxzxjjyw_mondo_relaxed.owl hypoglossia, isolated|hypoglossia with situs inversus UMLS:C2748587|OMIM:612776|Orphanet:141152|ICD10:Q38.3 owl:Class MONDO:0044301 biolink:NamedThing aortic aneurysm, familial thoracic 11, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl aortic aneurysm, familial thoracic 11, susceptibility to|AAT11 OMIM:617349 owl:Class MONDO:0016531 biolink:NamedThing digestive duplication tmpaxzxjjyw_mondo_relaxed.owl Orphanet:238|ICD10:Q45.8 owl:Class MONDO:0011675 biolink:NamedThing Charcot-Marie-Tooth Disease, axonal, type 2GG Autosomal dominant intermediate Charcot-Marie-Tooth disease type A is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. tmpaxzxjjyw_mondo_relaxed.owl DI-CMTA|Charcot-Marie-Tooth neuropathy, dominant Intermediate a|Di-Cmta|Charcot-Marie-Tooth disease, dominant intermediate A|autosomal dominant intermediate Charcot-Marie-Tooth disease type A|CMT2GG|CMTDIA|Charcot-Marie-Tooth disease dominant intermediate type A|Charcot-Marie-Tooth disease dominant intermediate A|Charcot-Marie-Tooth neuropathy dominant intermediate A DOID:0110202|ICD10:G60.0|MESH:C564702|GARD:0012437|Orphanet:100043|OMIM:606483|UMLS:C1847896|SCTID:765744006 owl:Class UBERON:0005029 biolink:NamedThing mucosa of lacrimal canaliculus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003437 biolink:NamedThing occult small cell lung carcinoma A small cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. tmpaxzxjjyw_mondo_relaxed.owl occult small cell carcinoma of the lung|occult small cell carcinoma of lung|lung occult small cell carcinoma|occult small cell lung carcinoma UMLS:C1335099|DOID:5414|NCIT:C6683 owl:Class ECTO:9002146 biolink:NamedThing exposure to acids An exposure to acid. tmpaxzxjjyw_mondo_relaxed.owl exposure to acid owl:Class CHEBI:23341 biolink:NamedThing cobamides tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030887 biolink:NamedThing positive regulation of myeloid dendritic cell activation Any process that stimulates, induces or increases the rate of myeloid dendritic cell activation. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of myeloid dendritic cell activation|activation of myeloid dendritic cell activation|upregulation of myeloid dendritic cell activation|up regulation of myeloid dendritic cell activation|stimulation of myeloid dendritic cell activation owl:Class MONDO:0001100 biolink:NamedThing hypertrophy of breast Excessive enlargement of one or both breasts. Causes include pregnancy, obesity, and penicillamine therapy. It may result in neck, back, and shoulder pain. tmpaxzxjjyw_mondo_relaxed.owl juvenile gigantomastia (subtype)|breasts enlarged|idiopathic gigantomastia (subtype)|gestational gigantomastia (subtype)|medication-induced gigantomastia (subtype)|large breast|drug-induced gigantomastia (subtype)|gigantomastia|hypertrophy of the breast|macromastia|puberty-induced gigantomastia (subtype)|pregnancy-induced gigantomastia (subtype)|breast Hypertrophy GARD:0009450|DOID:10688|ICD10:N62|SCTID:372281005|ICD9:611.1|NCIT:C3125 owl:Class MONDO:0032926 biolink:NamedThing sandestig-stefanova syndrome tmpaxzxjjyw_mondo_relaxed.owl SANDESTIG-STEFANOVA SYNDROME|SANDSTEF OMIM:618804 owl:Class MONDO:0007822 biolink:NamedThing incisors, long upper central tmpaxzxjjyw_mondo_relaxed.owl incisors, long upper central 2022-04-01 OMIM:147300 Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: HP:0000675 HP:0000675 owl:Class HGNC:6913 biolink:NamedThing MAX tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001330 biolink:NamedThing presbyopia The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation. tmpaxzxjjyw_mondo_relaxed.owl SCTID:41256004|DOID:11638|UMLS:C0033075|MESH:D011305|ICD10:H52.4|ICD9:367.4 owl:Class HGNC:17082 biolink:NamedThing MLC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017833 biolink:NamedThing primary hypereosinophilic syndrome tmpaxzxjjyw_mondo_relaxed.owl HES-N|neoplastic hypereosinophilic syndrome|clonal hypereosinophilic syndrome|primary HES|HES-M UMLS:CN203808|Orphanet:314950|ICD10:D47.5 owl:Class MONDO:0006965 biolink:NamedThing secondary hypertrophic osteoarthropathy Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]|Marie Bamberger disease|Bamberger-Marie disease|HPOA - hypertrophic pulmonary osteoarthropathy|hypertrophic pulmonary osteoarthropathy DOID:10393|UMLS:C0029412|SCTID:203357004|ICD10:M89.4|MESH:D010005|ICD9:731.2|EFO:1001174 owl:Class UBERON:0003249 biolink:NamedThing epithelium of otic placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004058 biolink:NamedThing pancreatic cholera A rare syndrome characterized by severe watery diarrhea, hypokalemia, and achlorhydria. It is caused by the oversecretion of vasoactive intestinal peptide from the pancreatic islet cells. tmpaxzxjjyw_mondo_relaxed.owl Verner Morrison syndrome|watery diarrhea syndrome|watery diarrhea, hypokalemia, and achlorhydria syndrome|islet cell WDHA syndrome|WDHH|WDHA syndrome|excessive vasoactive intestinal peptide secretion|pancreatic WDHA syndrome|watery diarrhea with hypokalemic alkalosis ICD9:259.3|SCTID:39998009|DOID:6977|NCIT:C3488 Reason: duplicate. This will be merged with MONDO:0019960 VIPoma owl:Class MONDO:0032912 biolink:NamedThing Coffin-Siris syndrome 11 tmpaxzxjjyw_mondo_relaxed.owl COFFIN-SIRIS SYNDROME 11|CSS11 OMIM:618779 owl:Class MONDO:0017088 biolink:NamedThing isolated amyelia tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q06.0|Orphanet:268868 owl:Class HGNC:26200 biolink:NamedThing STN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0037458 biolink:NamedThing hair of neck tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019529 biolink:NamedThing radiation myelitis A disease characterized by white matter damage to the spinal cord developed after a certain period of application of ionizing radiation. tmpaxzxjjyw_mondo_relaxed.owl radiation myelopathy|delayed radiation myelopathy SCTID:26037005|Orphanet:90021|ICD9:336.8|ICD10:G97.8 owl:Class HGNC:11547 biolink:NamedThing TAF15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034928 biolink:NamedThing dorsal surface of penis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006994 biolink:NamedThing tarsal tunnel syndrome Tarsal tunnel syndrome is a nerve disorder that is characterized by pain in the ankle, foot, and toes. This condition is caused by compression of the posterior tibial nerve, which runs through a canal near the heel into the sole of the foot. When tissues around this nerve become inflamed, they can press on the nerve and cause the pain associated with tarsal tunnel syndrome. tmpaxzxjjyw_mondo_relaxed.owl neuropathy of the posterior tibial nerve and its branches|posterior tibial nerve neuralgia ICD10:G57.50|EFO:1001208|DOID:12526|NCIT:C85183|MESH:D013641|UMLS:C0039319|SCTID:47374004|MedDRA:10043121|ICD9:355.5|GARD:0007733|ICD10:G57.5 https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome owl:Class MONDO:0044747 biolink:NamedThing human anaplasmosis An infection that is caused by Anaplasma phagocytophilum, which is transmitted to humans by infected ticks; it is characterized by fever, headache, chills, and myalgia. tmpaxzxjjyw_mondo_relaxed.owl anaplasmosis|human anaplasmosis|Anaplasmoses SCTID:427481004|NCIT:C128425|ICD9:082.49 owl:Class MONDO:0016854 biolink:NamedThing 49,XXXYY syndrome 49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. The condition is extremely rare with only a handful of cases reported in the medical literature. Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg. Treatment is based on the signs and symptoms present in each person. tmpaxzxjjyw_mondo_relaxed.owl XXXYY syndrome|49, XXXYY syndrome ICD10:Q98.8|GARD:0010922|Orphanet:261534|UMLS:CN202197 https://rarediseases.info.nih.gov/diseases/10922/49-xxxyy-syndrome owl:Class MONDO:0010872 biolink:NamedThing parotid salivary glands, polycystic dysgenetic disease of tmpaxzxjjyw_mondo_relaxed.owl parotid salivary glands, polycystic dysgenetic disease OF|PDDP OMIM:600343 owl:Class MONDO:0007058 biolink:NamedThing acropectorovertebral dysplasia Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). tmpaxzxjjyw_mondo_relaxed.owl F syndrome|ACRPV|acropectorovertebral dysplasia|acropectorovertebral dysplasia F form Orphanet:957|MESH:C566319|UMLS:C1863307|GARD:0000512|OMIM:102510|ICD10:Q74.8|SCTID:720457000 https://rarediseases.info.nih.gov/diseases/512/acropectorovertebral-dysplasia-f-form owl:Class MONDO:0011607 biolink:NamedThing narcolepsy 2, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl NRCLP2|narcolepsy 2, susceptibility to OMIM:605841|Orphanet:2073|UMLS:C1853901 owl:Class MONDO:0005257 biolink:NamedThing advanced heart failure Patients with advanced heart failure have severe limitations, experiences symptoms even while at rest and are mostly bedbound patients. tmpaxzxjjyw_mondo_relaxed.owl EFO:0003149|Wikipedia:New_York_Heart_Association_Functional_Classification owl:Class MONDO:0001156 biolink:NamedThing borderline personality disorder A disorder characterized by an enduring pattern of unstable self-image and mood together with volatile interpersonal relationships, self-damaging impulsivity, recurrent suicidal threats or gestures and/or self-mutilating behavior. tmpaxzxjjyw_mondo_relaxed.owl borderline personality disorder|borderline personality disorder (disease)|BPD borderline personality disorder (disease) MESH:D001883|HP:0012076|ICD10:F60.3|DOID:10930|NCIT:C92633|SCTID:20010003|ICD9:301.83 owl:Class MONDO:0003476 biolink:NamedThing clear cell ependymoma An ependymoma, often supratentorial in location, characterized by the presence of ependymal cells with a perinuclear halo. tmpaxzxjjyw_mondo_relaxed.owl clear cell ependymoma ONCOTREE:CCE|NCIT:C4714|DOID:5507 owl:Class MONDO:0017233 biolink:NamedThing familial Alzheimer-like prion disease tmpaxzxjjyw_mondo_relaxed.owl ICD10:A81.8|Orphanet:280397|UMLS:CN202723|SCTID:721219005|UMLS:C4303482 owl:Class MONDO:0019933 biolink:NamedThing acromegaly Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations. tmpaxzxjjyw_mondo_relaxed.owl Growth hormone excess|somatotroph adenoma|pituitary giant EFO:1001485|OMIM:300943|Orphanet:963|OMIM:102200|UMLS:C0001206|NCIT:C84533|SCTID:74107003|MedDRA:10000599|GARD:0005725|MESH:D000172|DOID:2449|ICD10:E22.0 https://rarediseases.info.nih.gov/diseases/5725/acromegaly owl:Class HGNC:21708 biolink:NamedThing CCM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0005244 biolink:NamedThing voltage-gated ion channel activity Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. tmpaxzxjjyw_mondo_relaxed.owl voltage-dependent ion channel activity|voltage gated ion channel activity owl:Class GO:0022832 biolink:NamedThing voltage-gated channel activity Enables the transmembrane transfer of a solute by a channel whose open state is dependent on the voltage across the membrane in which it is embedded. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018302 biolink:NamedThing acquired kinky hair syndrome Acquired progressive kinking of the hair (APKH) is a rare hair disorder characterized by the appearance of lustreless, curly, frizzy, and coarse hair generally during adolescence predominantly in the frontal, temporal, and vertex regions of the scalp. Eyelashes, as well as growth and pigmentation of the hair, may also be affected. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204889|ICD10:L67.8|Orphanet:37559 owl:Class ENVO:01001782 biolink:NamedThing landmass A large continuous area of land, either surrounded by sea or contiguous with another landmass. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:4070 biolink:NamedThing Solanaceae tmpaxzxjjyw_mondo_relaxed.owl nightshade family GC_ID:1 NCBITaxon:40319 ncbi_taxonomy owl:Class NCBITaxon:4069 biolink:NamedThing Solanales tmpaxzxjjyw_mondo_relaxed.owl Solananae GC_ID:1 NCBITaxon:41936 ncbi_taxonomy owl:Class MONDO:0009014 biolink:NamedThing cornea plana 2 Any cornea plana in which the cause of the disease is a mutation in the KERA gene. tmpaxzxjjyw_mondo_relaxed.owl cornea plana type 2|CNA2|cornea plana 2|cornea plana caused by mutation in KERA|KERA cornea plana|cornea plana 2, autosomal recessive MESH:C565677|Orphanet:53691|UMLS:C1857574|OMIM:217300 owl:Class HGNC:11571 biolink:NamedThing TARDBP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015457 biolink:NamedThing corpus callosum agenesis-double urinary collecting system syndrome tmpaxzxjjyw_mondo_relaxed.owl corpus callosum agenesis double urinary collecting|agenesis of corpus callosum with double urinary collecting system, trigonocephaly and minor anomalies|Ben Ari Shuper Mimouni syndrome|corpus callosum agenesis-double urinary collecting system syndrome|corpus callosum agenesis - double urinary collecting system|Ben Ari-Shuper-Mimouni syndrome MESH:C535427|GARD:0000852|Orphanet:1492|GARD:0001536|UMLS:C2930897 https://rarediseases.info.nih.gov/diseases/1536/corpus-callosum-agenesis-double-urinary-collecting owl:Class MONDO:0011754 biolink:NamedThing familial hyperreninemic hypoaldosteronism type 2 tmpaxzxjjyw_mondo_relaxed.owl aldosterone synthase deficiency unrelated to the aldosterone synthase gene|hyperreninemic hypoaldosteronism, familial, type 2|aldosterone synthase deficiency unrelated to CYP11B2|hyperreninemic hypoaldosteronism, familial, 2|Fhha2|FHHA2 OMIM:606984|MESH:C564638|Orphanet:427|UMLS:C1846990|ICD10:E27.4|Orphanet:99764 owl:Class MONDO:0012998 biolink:NamedThing faciocardiomelic syndrome tmpaxzxjjyw_mondo_relaxed.owl faciocardiomelic syndrome OMIM:612731|MESH:C567176|UMLS:C2674798 owl:Class MONDO:0011755 biolink:NamedThing senior-loken syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl SENIOR-Loken syndrome 3|SLSN3 Orphanet:3156|UMLS:C1846980|OMIM:606995|MESH:C564637 owl:Class MONDO:0007214 biolink:NamedThing brachydactyly-preaxial hallux varus syndrome Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, preaxial, with hallux varus and thumb abduction|preaxial brachydactyly with hallux varus and thumb abduction|Christian brachydactyly|dominant preaxial brachydactyly with hallux varus and thumb abduction|brachydactyly preaxial with hallux varus and thumb abduction MESH:C537087|UMLS:C1862162|ICD10:Q73.8|DOID:0110962|Orphanet:1278|OMIM:112450|GARD:0000972 owl:Class MONDO:0018269 biolink:NamedThing white platelet syndrome White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding. tmpaxzxjjyw_mondo_relaxed.owl platelet granule deficiency disorder Orphanet:370131|SCTID:718553004|UMLS:C2931293|ICD10:D69.1|MESH:C536702|GARD:0009282 Editor note: check relationship to platelet granule deficiency disorder https://rarediseases.info.nih.gov/diseases/9282/white-platelet-syndrome owl:Class MONDO:0011927 biolink:NamedThing tufted angioma Tufted angioma is a very rare, benign, cutaneous, slow-growing, vascular tumor mostly developing in infancy or early childhood. tmpaxzxjjyw_mondo_relaxed.owl tufted hemangioma of skin|angioma tufted|tufted skin angioma|angioma, tufted|tufted angioma of skin|tufted angioma|tufted hemangioma|angioblastoma of Nakagawa|tufted angioma (disease)|tufted hemangioma of the skin|Nakagawa angioblastoma|tufted angioma of the skin tufted angioma (disease) OMIM:607859|ICDO:9161/0|Orphanet:1063|SCTID:705155008|ICD10:D18.0|GARD:0000425|MESH:C536924|UMLS:C0346073|HP:0012329|ICD9:215.9|NCIT:C4487 owl:Class GO:0070640 biolink:NamedThing vitamin D3 metabolic process The chemical reactions and pathways involving vitamin D3, (3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol. tmpaxzxjjyw_mondo_relaxed.owl calciol metabolic process|cholecalciferol metabolic process|vitamin D3 metabolism owl:Class MONDO:0017266 biolink:NamedThing keratinopathic ichthyosis tmpaxzxjjyw_mondo_relaxed.owl KPI UMLS:C4511307|Orphanet:281103|SCTID:724837004 https://github.com/monarch-initiative/mondo/issues/2114 owl:Class MONDO:0004935 biolink:NamedThing acquired carotenemia tmpaxzxjjyw_mondo_relaxed.owl carotenemia|hypercarotinemia DOID:9969|ICD9:278.3|SCTID:35487009 Editor note: consider merging into parent. An explicit acquired subclass was created for consistency with DO owl:Class MONDO:0019093 biolink:NamedThing immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency is characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness (IPR). tmpaxzxjjyw_mondo_relaxed.owl specific antibody deficiency ICD10:D80.8|UMLS:C0398711|SCTID:234556002|GARD:0011903|Orphanet:70593 owl:Class NCBITaxon:34620 biolink:NamedThing Dermacentor andersoni tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023020 biolink:NamedThing dwarfism deafness retinitis pigmentosa tmpaxzxjjyw_mondo_relaxed.owl GARD:0001985 https://rarediseases.info.nih.gov/diseases/1985/dwarfism-deafness-retinitis-pigmentosa owl:Class MONDO:0013891 biolink:NamedThing amyotrophic lateral sclerosis type 18 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the PFN1 gene. tmpaxzxjjyw_mondo_relaxed.owl ALS18|amyotrophic lateral sclerosis 18|amyotrophic lateral sclerosis type 18|amyotrophic lateral sclerosis caused by mutation in PFN1|PFN1 amyotrophic lateral sclerosis UMLS:C3553719|OMIM:614808|Orphanet:803|DOID:0060209 owl:Class MONDO:0013985 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 18B Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 18B|autosomal recessive deafness 18B|autosomal recessive nonsyndromic deafness caused by mutation in OTOG|autosomal recessive nonsyndromic deafness type 18B|OTOG autosomal recessive nonsyndromic deafness|deafness, autosomal recessive type 18B|autosomal recessive nonsyndromic deafness 18B|DFNB18B ICD10:H90.3|OMIM:614945|UMLS:C3554163|DOID:0110474 owl:Class MONDO:0043892 biolink:NamedThing prosthesis-related infectious disease A bacterial infection related to a device used to replace a missing body part. The infection may occur during the operation from direct contamination or post-operatively through hematogenous spread. tmpaxzxjjyw_mondo_relaxed.owl prosthesis-related infection|prosthesis related infections|infections, prosthesis-related|device related infection MESH:D016459|NCIT:C79705|EFO:1002021 owl:Class MONDO:0030926 biolink:NamedThing spermatogenic failure 51 tmpaxzxjjyw_mondo_relaxed.owl SPGF51|spermatogenic failure 51 OMIM:619177 owl:Class MONDO:0020977 biolink:NamedThing granulomatous prostatitis An infectious or non-infectious inflammatory process that affects the prostate gland. Infectious causative agents include bacteria, parasites, fungi, and viruses. It is characterized by the formation of granulomas in the prostatic tissue. tmpaxzxjjyw_mondo_relaxed.owl granulomatous prostatitis|Granulomatous prostatitis|Granulomatous Prostatitis SCTID:61500009|ICD9:601.8|NCIT:C26789|UMLS:C0018204 owl:Class MONDO:0030045 biolink:NamedThing Liberfarb syndrome A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature. tmpaxzxjjyw_mondo_relaxed.owl Liberfarb syndrome|Spondyloepimetaphyseal Dysplasia, Liberfarb Type|LIBERFARB SYNDROME|LIBF OMIM:618889 owl:Class HP:0001977 biolink:NamedThing Abnormal thrombosis Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). tmpaxzxjjyw_mondo_relaxed.owl Abnormal blood clotting|Abnormal blood clot UMLS:C4025731 human_phenotype owl:Class MONDO:0024889 biolink:NamedThing benign mesonephroma A benign epithelial neoplasm of the female reproductive system arising from mesonephric remnants. tmpaxzxjjyw_mondo_relaxed.owl Mesonephroma, benign|mesonephric adenoma|benign mesonephric neoplasm|Wolffian duct adenoma|Mesonephroma, benign (morphologic abnormality)|benign Mesonephroma|mesonephric duct adenoma|mesonephric neoplasm, benign ICDO:9110/0|UMLS:C0334530|DOID:2616|NCIT:C4294 owl:Class MONDO:0004099 biolink:NamedThing adult cystic teratoma A cystic teratoma that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl adult cystic teratoma|cystic teratoma of adults NCIT:C9012|DOID:7079|UMLS:C1368888 owl:Class MONDO:0004369 biolink:NamedThing renal infectious disease tmpaxzxjjyw_mondo_relaxed.owl DOID:782|ICD10:N15.9|ICD9:590.9|ICD9:590 owl:Class MONDO:0006795 biolink:NamedThing hypersplenism Overactive functioning of the spleen, resulting in excessive destruction of blood cells. tmpaxzxjjyw_mondo_relaxed.owl hypersplenism (disease)|hypersplenism|hypersplenia hypersplenism (disease) SCTID:58381000|UMLS:C0020532|MESH:D006971|NCIT:C34714|DOID:6376|ICD10:D73.1|HP:0001971|EFO:1000975|ICD9:289.4|MedDRA:10020769 owl:Class ENVO:00000248 biolink:NamedThing glacial valley A valley that contains, or contained, a glacier and was formed by glacial activity. Typically U-shaped in cross-section. tmpaxzxjjyw_mondo_relaxed.owl valley owl:Class CL:0002001 biolink:NamedThing CD34-positive, CD38-positive granulocyte monocyte progenitor A granulocyte monocyte progenitor is CD34-positive, CD38-positive, IL-3receptor-alpha-positive and is CD45RA-negative. tmpaxzxjjyw_mondo_relaxed.owl Markers are for human cells. According to different research groups, CD45RA is present or absent on this cell population. tmeehan 2010-01-13T03:19:22Z cell owl:Class NCBITaxon:42461 biolink:NamedThing Opisthokonta incertae sedis tmpaxzxjjyw_mondo_relaxed.owl Fungi/Metazoa incertae sedis GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015348 biolink:NamedThing leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with bilateral anterior temporal lobe cysts is a nonprogressive neurological disorder marked by intellectual deficit, spasticity and motor retardation associated with characteristic MRI findings of anterior bilateral temporal lobe cysts and multilobar leukoencephalopathy. So far, around 30 cases have been reported in the literature. Onset occurs in the first few months of life. Sensorineural deafness and microcephaly have also been reported. The etiology is unknown but an autosomal recessive mode of inheritance has been suggested. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E75.2|Orphanet:139444 owl:Class MONDO:0008085 biolink:NamedThing neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance tmpaxzxjjyw_mondo_relaxed.owl neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance MESH:C563517|UMLS:C1834205|OMIM:162380 owl:Class MONDO:0020629 biolink:NamedThing microcephaly, growth restriction and increased sister chromatid exchange tmpaxzxjjyw_mondo_relaxed.owl MGRISCE OMIMPS:210900 owl:Class MONDO:0002703 biolink:NamedThing appendix mucinous cystadenocarcinoma An adenocarcinoma arising from the appendix, characterized by the presence of mucinous stroma formation and cystic structures. tmpaxzxjjyw_mondo_relaxed.owl appendix colloidal cystadenocarcinoma|colloid cystadenocarcinoma of appendix|mucinous cystadenocarcinoma of the appendix|colloidal cystadenocarcinoma of the appendix|appendiceal mucinous cystadenocarcinoma|appendiceal colloidal cystadenocarcinoma|colloid cystadenocarcinoma of the appendix|vermiform appendix mucinous cystadenocarcinoma|appendix colloid cystadenocarcinoma|mucinous cystadenocarcinoma of appendix|appendiceal colloid cystadenocarcinoma|appendix mucinous cystadenocarcinoma|colloidal cystadenocarcinoma of appendix DOID:3607|UMLS:C1096639|NCIT:C5511 owl:Class MONDO:0001768 biolink:NamedThing stenosis of lacrimal passage tmpaxzxjjyw_mondo_relaxed.owl stenosis of lacrimal canaliculi DOID:13654|ICD9:375.53|SCTID:81345003|ICD10:H04.54|ICD10:H04.549 owl:Class MONDO:0001503 biolink:NamedThing primary eye hypotony tmpaxzxjjyw_mondo_relaxed.owl primary hypotony of eye DOID:12349|ICD10:H44.44|UMLS:C0154782|SCTID:2251002|ICD9:360.31 owl:Class MONDO:0001442 biolink:NamedThing dysthymic disorder A chronic mood disorder in which the symptoms are similar to, though milder than, those diagnosed in depression. tmpaxzxjjyw_mondo_relaxed.owl dysthymia EFO:0008623|SCTID:78667006|ICD9:300.4|DOID:12139|ICD10:F34.1|MESH:D019263|NCIT:C34562 owl:Class HP:0000768 biolink:NamedThing Pectus carinatum A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. tmpaxzxjjyw_mondo_relaxed.owl Pigeon chest UMLS:C0158731|SNOMEDCT_US:205101001|MSH:D066166 HP:0006639 human_phenotype owl:Class HP:0000766 biolink:NamedThing Abnormal sternum morphology An anomaly of the sternum, also known as the breastbone. tmpaxzxjjyw_mondo_relaxed.owl Pectus excavatum or pectus carinatum|Abnormality of the sternum|Pectus excavatum/carinatum|Pectus deformities|Pectus excavatum or carinatum|Pectus deformity|Pectus carinatum or pectus excavatum|Sternal anomalies UMLS:C1860493 HP:0006630|HP:0000780|HP:0006708|HP:0006586|HP:0006605|HP:0006594 human_phenotype owl:Class MONDO:0011700 biolink:NamedThing inflammatory bowel disease 6 An inflammatory bowel disease that has material basis in variation in the chromosome region 19p13. tmpaxzxjjyw_mondo_relaxed.owl inflammatory bowel disease 6|inflammatory bowel disease type 6|IBD6 UMLS:C1847692|DOID:0110907|MESH:C564681|OMIM:606674 owl:Class ENVO:01000176 biolink:NamedThing shrubland biome A shrubland biome is a terrestrial biome which includes, across its entire spatial extent, dense groups of shrubs. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000446 biolink:NamedThing chief cell of parathyroid gland An epithelial cell of the parathyroid gland that is arranged in wide, irregular interconnecting columns; responsible for the synthesis and secretion of parathyroid hormone. tmpaxzxjjyw_mondo_relaxed.owl principal cell of parathyroid gland|parathyroid gland chief cell|parathyroid chief cell|parathyroid hormone secreting cell FMA:69078|CALOHA:TS-2140|BTO:0004712 cell owl:Class MONDO:0022575 biolink:NamedThing biliary hypoplasia A syndromic disease characterised by a small ductal system and reduction in the number of interlobular bile ducts. tmpaxzxjjyw_mondo_relaxed.owl GARD:0008383 Editor note: consider making this a finding https://rarediseases.info.nih.gov/diseases/8383/biliary-hypoplasia owl:Class MONDO:0018655 biolink:NamedThing hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237713|OMIM:607694|Orphanet:447893|ICD10:E75.2 owl:Class MONDO:0009054 biolink:NamedThing autosomal recessive cutis laxa type 2, classic type tmpaxzxjjyw_mondo_relaxed.owl ARCL2, Debre type|ARCL2A|autosomal recessive cutis laxa type 2, Debre type|ARCL2, classic type|ADCL2|autosomal recessive cutis laxa type 2, Debré type|ARCL2, debre type|Arcl2|autosomal recessive cutis laxa type II classic type|ARCL2, Debré type OMIM:219200|MESH:C562632|SCTID:73856006|OMIM:617402|UMLS:CN204606|Orphanet:357058|OMIM:614434|DOID:0070136|ICD10:Q82.8|OMIM:617403|Orphanet:357074 owl:Class MONDO:0010462 biolink:NamedThing syndromic X-linked intellectual disability Chudley-Schwartz type A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material basis in variation in the chromosomal region Xq21.33-q23. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance|X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance|intellectual disability, X-linked, syndromic, Chudley-Schwartz type|MRXSCS|X-linked intellectual disability with seizures, hypogammaglobinemia, and gait disturbance|intellectual disability, X-linked, with seizures, hypogammaglobulinemia, and Gait disturbance|mental retardation, X-linked, syndromic, Chudley-Schwartz type DOID:0060819|OMIM:300861|UMLS:C3275471 owl:Class MONDO:0019384 biolink:NamedThing encephalitis lethargica A form of encephalitis, the etiology of which is uncertain, that is characterized by lethargy and headache. tmpaxzxjjyw_mondo_relaxed.owl von Economo disease|Von Economo encephalitis|von Economo's disease|encephalitis lethargica|lethargic encephalitis|epidemic encephalitis|Von Economo’s disease MedDRA:10052369|Orphanet:83600|UMLS:C0014040|NCIT:C34576|NCIT:C26761|DOID:5225|ICD10:A85.8|SCTID:186499007|GARD:0006332|ICD9:049.8 https://rarediseases.info.nih.gov/diseases/6332/encephalitis-lethargica owl:Class MONDO:0005143 biolink:NamedThing Pseudomonas aeruginosa PA14 infection A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14. tmpaxzxjjyw_mondo_relaxed.owl EFO:0001078 owl:Class GO:0004683 biolink:NamedThing calmodulin-dependent protein kinase activity Calmodulin-dependent catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate. tmpaxzxjjyw_mondo_relaxed.owl CaM-regulated serine/threonine kinase activity|Ca2+/calmodulin-dependent microtubule-associated protein 2 kinase activity|Ca2+/calmodulin-dependent protein kinase kinase beta activity|CaMKI|CaMKIV|ATP:caldesmon O-phosphotransferase activity|CaMKII|calcium/calmodulin-dependent protein kinase activity|Ca2+/calmodulin-dependent protein kinase activity|ATP:protein phosphotransferase (Ca2+/calmodulin-dependent) activity|STK20|calmodulin regulated protein kinase activity|Ca2+/calmodulin-dependent protein kinase IV activity|caldesmon kinase (phosphorylating) activity|Ca2+/calmodulin-dependent protein kinase II activity|multifunctional calcium- and calmodulin-regulated protein kinase activity|CaMKKalpha|CaMKKbeta|multifunctional calcium/calmodulin regulated protein kinase activity|calmodulin-dependent protein kinase I activity|Ca2+/CaM-dependent kinase activity|CaM kinase II activity|calcium- and calmodulin-dependent protein kinase activity|microtubule-associated protein 2 kinase activity|calmodulin-dependent kinase II activity|CAM PKII|CaM kinase activity|Ca2+/calmodulin-dependent protein kinase kinase activity|Ca2+/calmodulin-dependent protein kinase 1 activity|calcium/calmodulin-dependent protein kinase type II activity owl:Class MONDO:0008176 biolink:NamedThing Paget disease of bone 3 tmpaxzxjjyw_mondo_relaxed.owl familial Paget disease of bone|Paget disease of bone 3|Paget disease of bone type 3|Paget disease of bone, familial|PDB3 UMLS:C4085252|GARD:0004191|OMIM:167250 owl:Class MONDO:0012621 biolink:NamedThing deafness-infertility syndrome Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility. tmpaxzxjjyw_mondo_relaxed.owl sensorineural deafness and male infertility|dis|chromosome 15Q15.3 deletion syndrome|deafness, sensorineural, and Male infertility|deafness-infertility syndrome MESH:C567010|ICD9:758.39|OMIM:611102|Orphanet:94064|GARD:0011911|ICD10:Q93.5|SCTID:700489002 https://rarediseases.info.nih.gov/diseases/11911/deafness-infertility-syndrome owl:Class MONDO:0044326 biolink:NamedThing developmental delay and seizures with or without movement abnormalities DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by {1:Hamdan et al., 2017}). tmpaxzxjjyw_mondo_relaxed.owl DEDSM|developmental delay and seizures with or without movement abnormalities OMIM:617836|DOID:0080473|UMLS:CN769090 owl:Class MONDO:0032931 biolink:NamedThing pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal tmpaxzxjjyw_mondo_relaxed.owl PHRINL|Chromosome 1P36.33 Deletion Syndrome, Atad3 Gene Cluster, Autosomal Recessive|Phrinl Syndrome|PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL OMIM:618810 owl:Class MONDO:0007789 biolink:NamedThing hypertrophia musculorum vera tmpaxzxjjyw_mondo_relaxed.owl hypertrophia musculorum vera OMIM:145800|UMLS:C1840361|MESH:C564152 owl:Class MONDO:0030008 biolink:NamedThing combined oxidative phosphorylation deficiency 42 tmpaxzxjjyw_mondo_relaxed.owl COXPD42|combined oxidative phosphorylation deficiency 42|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42 OMIM:618839 owl:Class MONDO:0001480 biolink:NamedThing malignant tumor of undescended testis tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of undescended testis|malignant neoplasm of retained testis|malignant tumor of retained testis DOID:12276|ICD9:186.0|SCTID:188219004|ICD10:C62.0|UMLS:C0153595 owl:Class GO:1901503 biolink:NamedThing ether biosynthetic process The chemical reactions and pathways resulting in the formation of ether. tmpaxzxjjyw_mondo_relaxed.owl ether formation|ether anabolism|ether synthesis|ether biosynthesis owl:Class MONDO:0019330 biolink:NamedThing pili gemini Pili gemini defines a situation where the papilla's tip of a hair follicle splits during the anagen phase and consequently grows two hair shafts emerging through a single pilary canal. A papilla tip that divides in several tips will produce several hair shafts, a situation named pili multigemini. Pili gemini or multigemini can occur in each type of hair. tmpaxzxjjyw_mondo_relaxed.owl pili multigemini SCTID:42829009|ICD9:704.8|Orphanet:79492|MESH:C537188|ICD10:L67.8 owl:Class HGNC:10524 biolink:NamedThing SALL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004505 biolink:NamedThing central breast papilloma A benign papillary neoplasm that arises in a large duct of the breast. It is characterized by the presence of a fibrovascular core that is lined by benign epithelial and myoepithelial proliferations. Patients usually present with nipple discharge. tmpaxzxjjyw_mondo_relaxed.owl large duct breast papilloma|solitary intraductal breast papilloma UMLS:C1332896|NCIT:C36087|DOID:8224 owl:Class MONDO:0003243 biolink:NamedThing hepatocellular clear cell carcinoma A morphologic variant of hepatocellular carcinoma characterized by the presence of clear cells. tmpaxzxjjyw_mondo_relaxed.owl hepatocellular clear cell carcinoma|clear cell hepatocellular cancer|clear cell carcinoma of the liver cells|clear cell carcinoma of liver cells|liver cell clear cell carcinoma|clear cell hepatocellular carcinoma UMLS:C1333067|NCIT:C5754|ICDO:8174/3|DOID:5016 owl:Class MONDO:0005907 biolink:NamedThing persian gulf syndrome Unexplained symptoms reported by veterans of the Persian Gulf War with Iraq in 1991. The symptoms reported include fatigue, skin rash, muscle and joint pain, headaches, loss of memory, shortness of breath, gastrointestinal and respiratory symptoms, and extreme sensitivity to commonly occurring chemicals. (Nature 1994 May 5;369(6475):8) tmpaxzxjjyw_mondo_relaxed.owl Gulf war syndrome ICD9:300.89|SCTID:95877004|EFO:0007430|DOID:4491|MESH:D018923|UMLS:C0282550 owl:Class MONDO:0020267 biolink:NamedThing genetic keratinization disorder associated with ocular features tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98697|UMLS:CN227842 Reason: out of scope. This is an Orphanet grouping class that is obsolete in Orphanet and considered out of scope for Mondo.Term to consider: inherited ichthyosis syndromic form' MONDO_0017263 owl:Class MONDO:0007136 biolink:NamedThing genetic anorectal anomalies tmpaxzxjjyw_mondo_relaxed.owl anorectal anomalies Orphanet:557|OMIM:107100|MESH:C567938 owl:Class HGNC:24650 biolink:NamedThing EHMT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1339 biolink:NamedThing C6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060666 biolink:NamedThing hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome tmpaxzxjjyw_mondo_relaxed.owl hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome|HADDTS OMIM:617915|UMLS:CN895589 owl:Class MONDO:0011369 biolink:NamedThing hypercholesterolemia, autosomal dominant, 3 Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene. tmpaxzxjjyw_mondo_relaxed.owl familial hypercholesterolemia caused by mutation in PCSK9|hypercholesterolemia, autosomal dominant, type 3|PCSK9 familial hypercholesterolemia|HCHOLA3|Fh3|hypercholesterolemia, autosomal dominant, 3|low density lipoprotein cholesterol level quantitative trait locus 1 UMLS:C1863551|MESH:C566337|OMIM:603776 owl:Class MONDO:0019759 biolink:NamedThing epispadias Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra. tmpaxzxjjyw_mondo_relaxed.owl epispadias|epispadias (disease) epispadias (disease) MESH:D004842|NCIT:C98923|HP:0000039|ICD9:752.62|UMLS:CN227686|Orphanet:93928|SCTID:406476007|ICD10:Q64.0|MedDRA:10015088|UMLS:C0014588 owl:Class HGNC:4401 biolink:NamedThing GNB5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0041996 biolink:NamedThing thallium poisoning tmpaxzxjjyw_mondo_relaxed.owl thallium poisoning SCTID:51040009 owl:Class MONDO:0043219 biolink:NamedThing migraine with brainstem aura A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem. tmpaxzxjjyw_mondo_relaxed.owl Bickerstaff migraine|bickerstaff's migraine|basilar artery migraine with aura|basilar migraine|MBA|brainstem migraine|basilar-type migraine|vertebrobasilar migraine|basilar artery migraine GARD:0005896|NCIT:C117013|SCTID:83351003 owl:Class MONDO:0008414 biolink:NamedThing schizophrenia 1 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD1 on chromosome 5q23-q35. tmpaxzxjjyw_mondo_relaxed.owl schizophrenia 1|schizophrenia susceptibility locus, chromosome 5-related|schizophrenia 1 with or without an affective disorder|SCZD1 OMIM:181510|DOID:0070077 owl:Class HGNC:3413 biolink:NamedThing EPM2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2918 biolink:NamedThing DLX5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03411297 biolink:NamedThing vertebrate animal A vertebrate animal is any species of organism within the subphylum Vertebrata (chordates with backbones). Vertebrates represent the overwhelming majority of the phylum Chordata, with currently about 69,276 species described. tmpaxzxjjyw_mondo_relaxed.owl animal owl:Class MONDO:0001465 biolink:NamedThing superficial keratitis tmpaxzxjjyw_mondo_relaxed.owl ICD9:370.20|SCTID:27019000|DOID:12196|UMLS:C0155074|ICD10:H16.10 owl:Class HGNC:30791 biolink:NamedThing UBIAD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000997 biolink:NamedThing monocular esotropia A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a 'cross-eye' appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze. tmpaxzxjjyw_mondo_relaxed.owl MESH:D004948|ICD9:378.01|ICD10:H50.01|DOID:10293|SCTID:5455000|UMLS:C0152204 owl:Class MONDO:0001888 biolink:NamedThing anus lymphoma A usually large cell non-Hodgkin lymphoma of B-cell phenotype, arising from the anus. Lymphomas originating from the anal region are rare in the general population, but they are seen with a higher frequency in HIV-positive patients, particularly homosexual men. tmpaxzxjjyw_mondo_relaxed.owl anal lymphoma|lymphoma of anus|primary anal lymphoma|lymphoma of the anus|anus lymphoma UMLS:C1332268|NCIT:C5601|DOID:14139 owl:Class HGNC:3771 biolink:NamedThing FMO3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018229 biolink:NamedThing Stevens-Johnson syndrome Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area. tmpaxzxjjyw_mondo_relaxed.owl toxic Epidermal necrolysis, susceptibility to|hypersensitivity syndrome, carbamazepine-induced, susceptibility to|Stevens Johnson syndrome|Stevens-Johnson syndrome, susceptibility to|Dermatostomatitis, Stevens Johnson type|severe cutaneous adverse reaction, susceptibility to|erythema multiforme Major ICD10:L51.1|SCTID:23067006|ICD10:L51.2|MESH:D013262|NCIT:C79777|GARD:0007700|DOID:0050426|EFO:0004276|ICD9:695.12|ICD9:695.15|Orphanet:36426|NCIT:C79484|MedDRA:10042033|UMLS:C0038325|UMLS:C0014518|ICD9:695.13|OMIM:608579|SCTID:73442001 owl:Class MONDO:0018028 biolink:NamedThing tetrasomy 5p Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia). tmpaxzxjjyw_mondo_relaxed.owl tetrasomy type 5p|Isochromosome 5p ICD10:Q99.8|Orphanet:3309|SCTID:766755003 owl:Class MONDO:0002697 biolink:NamedThing ovarian gonadoblastoma A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl gonadoblastoma|ovarian gonadoblastoma|ovary gonadoblastoma|gonadoblastoma of ovary|ovarian gonadoblastoma (disease)|GBY ovarian gonadoblastoma (disease) EFO:1000420|SCTID:716594002|DOID:3578|Orphanet:206484|NCIT:C39985|UMLS:C1518716|OMIM:424500|HP:0000149 owl:Class UBERON:0001918 biolink:NamedThing endothelium of venule tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:3100033 biolink:NamedThing pressure of water The pressure of some water. tmpaxzxjjyw_mondo_relaxed.owl water pressure owl:Class MONDO:0004800 biolink:NamedThing chronic dacryoadenitis Chronic form of dacryoadenitis. tmpaxzxjjyw_mondo_relaxed.owl dacryoadenitis, chronic UMLS:C0155224|DOID:949|ICD10:H04.02|SCTID:4760008|ICD9:375.02 owl:Class UBERON:0014766 biolink:NamedThing right crus of diaphragm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023061 biolink:NamedThing enamel hypoplasia cataract hydrocephaly tmpaxzxjjyw_mondo_relaxed.owl GARD:0002106 https://rarediseases.info.nih.gov/diseases/2106/enamel-hypoplasia-cataract-hydrocephaly owl:Class MONDO:0007884 biolink:NamedThing leg ulcers, familial, of juvenile onset tmpaxzxjjyw_mondo_relaxed.owl leg ulcers, familial, of juvenile onset OMIM:150590|UMLS:C1835489|MESH:C563632 owl:Class MONDO:0016975 biolink:NamedThing thymoma type AB A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years. tmpaxzxjjyw_mondo_relaxed.owl thymoma, mixed type|thymoma type AB|primary thymic epithelial neoplasm type AB|primary thymic epithelial tumor type AB|mixed type thymoma NCIT:C6885|EFO:1000582|ICDO:8582/1|UMLS:C1266092|ICD10:C37|Orphanet:263324|ICD10:D15.0|DOID:3280 owl:Class MONDO:0018840 biolink:NamedThing isolated congenital hepatic fibrosis A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts. tmpaxzxjjyw_mondo_relaxed.owl congenital hepatic fibrosis|congenital fibrose liver|nonsyndromic congenital hepatic fibrosis|isolated CHF ICD9:777.8|Orphanet:485426|MESH:C562378|SCTID:79607001|GARD:0006168|NCIT:C97071|UMLS:C0009714 https://rarediseases.info.nih.gov/diseases/6168/congenital-hepatic-fibrosis owl:Class MONDO:0008234 biolink:NamedThing multiple endocrine neoplasia type 2A Multiple endocrine neoplasia 2A (MEN2A) syndrome is a form of MEN2 characterized by medullary thyroid carcinoma (MTC) in combination with pheochromocytoma and primary mild hyperparathyroidism resulting from hyperplasia or adenoma of the parathyroid cells. tmpaxzxjjyw_mondo_relaxed.owl men-2A syndrome|multiple endocrine adenomatosis, type II|multiple endocrine neoplasia type 2A|MEN2A|men type II|multiple endocrine neoplasia, type 2A|multiple endocrine neoplasia II|thyroid carcinoma, familial medullary|multiple endocrine neoplasia, type IIA|multiple endocrine neoplasia type II|ptc syndrome|MEA type 2a|multiple endocrine adenomatosis type 2a|men type 2a|men 2A|Sipple syndrome|pheochromocytoma and amyloid producing medullary thyroid carcinoma|multiple endocrine adenomatosis type 2A|MEA type II|pheochromocytoma and amyloid-producing medullary thyroid carcinoma|multiple endocrine adenomatosis type II|multiple endocrine neoplasia, type II ICD10:E31.22|UMLS:C1833921|DOID:0050430|Orphanet:653|ICD10:D44.8|UMLS:C0025268|GARD:0004881|SCTID:721188000|MESH:D018813|OMIM:171400|Orphanet:247698|NCIT:C3226|SCTID:61808009|ICD9:258.02 https://rarediseases.info.nih.gov/diseases/4881/multiple-endocrine-neoplasia-type-2a owl:Class CL:0000821 biolink:NamedThing B-1b B cell A B-1 B cell that has the phenotype CD5-negative, but having other phenotypic attributes of a B-1 B cell. tmpaxzxjjyw_mondo_relaxed.owl B1b B lymphocyte|B1b cell|B1b B cell|B-1b B-cell|B-1b B-lymphocyte|B-1b B lymphocyte|B1b B-cell|B1b B-lymphocyte cell owl:Class MONDO:0009547 biolink:NamedThing macrosomia-microphthalmia-cleft palate syndrome Macrosomia-microphthalmia-cleft palate syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by early macrosomia, bilateral severe microphthalmia and a protuberant abdomen with hepatomegaly. Additional reported features include brachycephaly, large fontanelles, prominent forehead, upturned nose and median cleft palate. Cyanotic apneic spells and overwhelming infection lead to death within the first 6 months of life. There have been no further descriptions in the literature since 1989. tmpaxzxjjyw_mondo_relaxed.owl macrosomia with lethal microphthalmia|Teebi Al-Saleh Hassoon syndrome|macrosomia with microphthalmia, lethal|macrosomia microphthalmia cleft palate|Teebi-Al Saleh-Hassoon syndrome UMLS:C1855467|OMIM:248110|Orphanet:2432|ICD10:Q87.0|GARD:0000177|MESH:C537830 owl:Class NCBITaxon:9922 biolink:NamedThing Capra tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100469 biolink:NamedThing anosmia, isolated congenital, X-linked X-linked form of anosmia, isolated congenital. tmpaxzxjjyw_mondo_relaxed.owl OMIM:301700 http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3834 owl:Class MONDO:0020433 biolink:NamedThing ectasia of the left appendage Ectasia of the left atrial appendage is a rare cardiac malformation characterized by the enlargement of the left auricle without any other associated cardiac lesions. It can be asymptomatic (discovered fortuitously during routine chest imaging as an unusual cardiac shadow) or present clinically with supraventricular tachyarrhythmia, paroxysmal tachycardia, embolic events, respiratory distress, chest pain, angina pectoris or heart failure. tmpaxzxjjyw_mondo_relaxed.owl dilatation of the left auricle|dilatation of the left appendage|ectasia of the left auricle|dilatation of the left atrial appendage|ectasia of the left atrial appendage Orphanet:99102|ICD10:Q20.8 owl:Class MONDO:0019837 biolink:NamedThing atrial appendage anomaly tmpaxzxjjyw_mondo_relaxed.owl atrial auricle anomaly Orphanet:95510|ICD10:Q20.8 owl:Class MONDO:0032832 biolink:NamedThing intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies tmpaxzxjjyw_mondo_relaxed.owl IDNADFS|INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES|Chromosome 12Q15 Deletion Syndrome OMIM:618608 owl:Class MONDO:0016429 biolink:NamedThing Marburg acute multiple sclerosis Marburg acute multiple sclerosis is a rare variant of multiple sclerosis characterized by a rapidly progressive, aggressive form of multiple sclerosis with numerous large multifocal demyelinating lesions in deep white matter on cerebral MRI that usually leads to severe disability or death within weeks to months without remission. A relapsing form of multiple sclerosis is observed in surviving patients. tmpaxzxjjyw_mondo_relaxed.owl acute multiple sclerosis, Marburg variant|acute multiple sclerosis, Marburg type Orphanet:228157|SCTID:766246000 owl:Class GO:1903729 biolink:NamedThing regulation of plasma membrane organization Any process that modulates the frequency, rate or extent of plasma membrane organization. tmpaxzxjjyw_mondo_relaxed.owl regulation of plasma membrane organisation|regulation of plasma membrane organization and biogenesis owl:Class NCBITaxon:1980418 biolink:NamedThing Phenuiviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class CHEBI:30217 biolink:NamedThing helium atom tmpaxzxjjyw_mondo_relaxed.owl helium|helio|He|Helium|2He owl:Class HP:0100606 biolink:NamedThing Neoplasm of the respiratory system A tumor (abnormal growth of tissue) of the respiratory system. tmpaxzxjjyw_mondo_relaxed.owl Respiratory system tumor|Respiratory system tumour SNOMEDCT_US:126667002|MSH:D012142|UMLS:C0035244|NCIT:C3262|SNOMEDCT_US:448708002 doelkens 2010-12-27T06:08:41Z human_phenotype owl:Class MONDO:0017185 biolink:NamedThing autosomal dominant hyperinsulinism due to Kir6.2 deficiency Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism). tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency|dominant KATP hyperinsulinism due to Kir6.2 deficiency UMLS:CN202626|OMIM:601820|SCTID:717045004|ICD10:E16.1|Orphanet:276580|UMLS:C4274081 owl:Class MONDO:0008308 biolink:NamedThing priapism, familial idiopathic tmpaxzxjjyw_mondo_relaxed.owl familial idiopathic priapism|priapism, familial idiopathic OMIM:176620|GARD:0010016|MESH:C531791|UMLS:C1867771 owl:Class MONDO:0030014 biolink:NamedThing muscular dystrophy, limb-girdle, autosomal recessive 26 tmpaxzxjjyw_mondo_relaxed.owl LGMDR26|muscular dystrophy, limb-girdle, autosomal recessive 26|MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 OMIM:618848 owl:Class IAO:8000010 biolink:NamedThing exclusion subset ontology module A subset of an ontology that is intended to be excluded for some purpose. For example, a blacklist of classes. tmpaxzxjjyw_mondo_relaxed.owl antislim exclusion subset ontology module owl:Class MONDO:0004356 biolink:NamedThing childhood multilocular cystic kidney neoplasm A cystic neoplasm which arises from the kidney and occurs in children. It includes the cystic partially differentiated nephroblastoma and cases in which nephroblastomatous elements are not present. tmpaxzxjjyw_mondo_relaxed.owl pediatric multilocular cystic kidney tumor|childhood multilocular cystic renal neoplasm|childhood multilocular cystic kidney neoplasm|pediatric multilocular cystic kidney neoplasm|benign multilocular cystic renal tumor|childhood multilocular cystic renal tumor|pediatric multilocular cystic renal neoplasm|childhood multilocular cystic kidney tumor|pediatric multilocular cystic renal tumor UMLS:C1332983|NCIT:C6566|DOID:7762 owl:Class HGNC:12744 biolink:NamedThing MLXIPL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011353 biolink:NamedThing atrial septal defect, secundum, with various cardiac and Noncardiac defects tmpaxzxjjyw_mondo_relaxed.owl atrial septal defect, secundum, with various cardiac and Noncardiac defects MESH:C566351|UMLS:C1863648|OMIM:603642 owl:Class MONDO:0019932 biolink:NamedThing isolated partial vaginal agenesis Isolated partial vaginal agenesis is a rare, non-syndromic urogenital tract malformation characterized by the absence of a vagina or the presence of a vaginal dimple shorter than 5 cm. It is often associated with uterine agenesis, hematocolpos or primary amenorrhea and dyspareunia. Ovaries and fallopian tubes are normal. tmpaxzxjjyw_mondo_relaxed.owl congenital absence of vagina ICD10:Q52.0|Orphanet:96269|SCTID:87380008 owl:Class MONDO:0015392 biolink:NamedThing nasal glial heterotopia Nasal glial heterotopia is a rare developmental abnormality presenting usually at birth or in early childhood (rarely in adulthood) as a benign, non-pulsatile mass that can lead to nasal obstruction, deformation of the septum and nasal bone, and respiratory distress if untreated. Nasal glial heterotopias have no communication with the central nervous system; however an associated defect in the cribriform plate is sometimes reported. tmpaxzxjjyw_mondo_relaxed.owl nasal glioma SCTID:5645008|Orphanet:141112|UMLS:C0266490|ICD9:748.1 owl:Class MONDO:0020368 biolink:NamedThing Axenfeld anomaly Axenfeld's anomaly is a rare congenital ocular defect caused by anterior segment dysgenesis and is characterized by anteriorly displaced SchwalbeBs line and iris bands extending into the cornea. In contrast, RiegerBs anomaly includes characteristic iris and pupil anomalies. tmpaxzxjjyw_mondo_relaxed.owl ICD9:743.44|MedDRA:10058653|OMIM:602482|ICD10:Q15.0|Orphanet:98978|SCTID:204152008|OMIM:601631 owl:Class HP:0010936 biolink:NamedThing Abnormality of the lower urinary tract An abnormality of the lower urinary tract. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023640 The lower urinary tract is a subdivision of urinary system which consists of the urinary bladder and the urethra. peter 2011-01-16T11:39:17Z human_phenotype owl:Class GO:0015927 biolink:NamedThing trehalase activity Catalysis of the hydrolysis of trehalose or a trehalose derivative. tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0000125 biolink:NamedThing mass A physical quality that inheres in a bearer by virtue of the proportion of the bearer's amount of matter. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017151 biolink:NamedThing pulmonary arterial hypertension associated with connective tissue disease Pulmonary arterial hypertension (PAH) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease. tmpaxzxjjyw_mondo_relaxed.owl PAH associated with connective tissue disease 2022-03-01 ICD10:I27.2|ICD9:416.8|EFO:0009196|Orphanet:275798|SCTID:697903007|UMLS:C3697982|UMLS:CN202578 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class MONDO:0018606 biolink:NamedThing extensive peripapillary myelinated nerve fibers tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237640|Orphanet:440724 owl:Class MONDO:0017926 biolink:NamedThing multiple paragangliomas associated with polycythemia tmpaxzxjjyw_mondo_relaxed.owl multiple paragangliomas associated with erythrocytosis|paraganglioma-somatostatinoma-polycythemia syndrome UMLS:CN204064|Orphanet:324299 owl:Class MONDO:0010145 biolink:NamedThing tibia, absence of, with congenital deafness tmpaxzxjjyw_mondo_relaxed.owl tibia, absence of, with congenital deafness MESH:C564764|UMLS:C1848758|OMIM:275230 owl:Class NCBITaxon:2732008 biolink:NamedThing Preplasmiviricota tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732005 biolink:NamedThing Bamfordvirae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:39087 biolink:NamedThing Arvicolinae tmpaxzxjjyw_mondo_relaxed.owl Microtinae GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007627 biolink:NamedThing focal facial dermal dysplasia type I Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia. tmpaxzxjjyw_mondo_relaxed.owl bitemporal aplasia cutis congenita|focal facial dermal dysplasia type 1|FFDD, type 1|Brauer syndrome|FFDD1|focal facial dermal dysplasia 1, Brauer type|hereditary symmetrical aplastic nevi of temples|FFDD type I ICD10:Q82.8|OMIM:136500|Orphanet:79133|Orphanet:398166|GARD:0008416|UMLS:CN776929 owl:Class MONDO:0010834 biolink:NamedThing hirschsprung disease, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl HSCR5|Hirschsprung disease, susceptibility to, 5 OMIM:600156|Orphanet:388 owl:Class UBERON:0004794 biolink:NamedThing esophagus secretion tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023208 biolink:NamedThing Fuqua Berkovitz syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0002415 https://rarediseases.info.nih.gov/diseases/2415/fuqua-berkovitz-syndrome owl:Class UBERON:0004789 biolink:NamedThing larynx mucous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006899 biolink:NamedThing pericoronitis Inflammation of the gingiva surrounding the crown of a tooth. tmpaxzxjjyw_mondo_relaxed.owl SCTID:22240003|UMLS:C0031055|DOID:3671|EFO:1001098|MESH:D010497|MedDRA:10034504 owl:Class MONDO:0012882 biolink:NamedThing major affective disorder 9 tmpaxzxjjyw_mondo_relaxed.owl MAFD9|MAJOR affective disorder 9|bipolar affective disorder|major affective disorder 9 MESH:C567531|OMIM:612372 owl:Class MONDO:0013941 biolink:NamedThing metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay. tmpaxzxjjyw_mondo_relaxed.owl metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria|spondyloenchondromatosis with D-2-hydroxyglutaric aciduria|metaphyseal enchondromatosis with D-2-hydroxyglutaric aciduria|metaphyseal Enchondrodysplasia with 2-hydroxyglutaric aciduria Orphanet:99646|UMLS:C3553958|OMIM:614875 owl:Class MONDO:0032760 biolink:NamedThing developmental delay with or without dysmorphic facies and autism tmpaxzxjjyw_mondo_relaxed.owl DEDDFA|DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM OMIM:618454 owl:Class MONDO:0010734 biolink:NamedThing spatial visualization, aptitude for tmpaxzxjjyw_mondo_relaxed.owl visuospatial/perceptual abilities|spatial visualization, aptitude for|Turner syndrome-associated Neurocognitive phenotype MESH:C564058|UMLS:C1839262|OMIM:313000 owl:Class NCBITaxon:133423 biolink:NamedThing Batillus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0021824 biolink:NamedThing adult progressive spinal muscular atrophy, Aran Duchenne type A progressive muscle weakness and atrophy of the limbs that irregularly affects certain muscles, while it spares others. tmpaxzxjjyw_mondo_relaxed.owl adult progressive spinal muscular atrophy Aran Duchenne type|Aran Duchenne spinal muscular atrophy|adult SMA Aran Duchenne type GARD:0009132 Editor note: consider merging with parent https://rarediseases.info.nih.gov/diseases/9132/adult-progressive-spinal-muscular-atrophy-aran-duchenne-type owl:Class MONDO:0018687 biolink:NamedThing progressive muscular atrophy A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation. tmpaxzxjjyw_mondo_relaxed.owl progressive spinal muscular atrophy|PMA|pure progressive muscular atrophy ICD9:335.21|NCIT:C85027|SCTID:88923002|ICD10:G12.21|MESH:D009134|UMLS:C0917981|EFO:0008864|DOID:318|ICD10:G12.2|Orphanet:454706 owl:Class MONDO:0022883 biolink:NamedThing craniofacial and skeletal defects tmpaxzxjjyw_mondo_relaxed.owl GARD:0001570 https://rarediseases.info.nih.gov/diseases/1570/craniofacial-and-skeletal-defects owl:Class UBERON:0004994 biolink:NamedThing mucosa of fundus of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020547 biolink:NamedThing chronic graft versus host disease Chronic graft versus host disease (GVHD) is a complication that can occur after a stem cell or bone marrow transplant in which the newly transplanted donor cells attack the transplant recipient's body. Symptoms may include skin rash, mouth sores, dry eyes, liver inflammation, development of scar tissue in the skin and joints, and damage to the lungs. The exact cause of chronic GVHD is unknown.It likely results from a complex immune-mediated interaction between the donor and recipient cells.Chronic GVHD is treated with prednisone or other similar anti-inflammatory or immunosuppressive medications. tmpaxzxjjyw_mondo_relaxed.owl graft versus host disease, chronic|chronic GVHD|GVHD, chronic MedDRA:10066261|Orphanet:99921|NCIT:C4981|SCTID:402356004|MESH:D006086|ICD10:T86.0|GARD:0010964|ICD9:279.52|ICD10:D89.811|UMLS:C0867389 https://rarediseases.info.nih.gov/diseases/10964/chronic-graft-versus-host-disease owl:Class NCBITaxon:34105 biolink:NamedThing Streptobacillus moniliformis tmpaxzxjjyw_mondo_relaxed.owl Asterococcus muris|Proactinomyces muris|Streptothrix muris ratti|"Actinobacillus muris" (de Mello and Pais 1918) Wilson and Miles 1955|Haverhillia multiformis|Actinomyces muris|Haverhillia moniliformis|Nocardia muris|Actinomyces muris ratti PMID:24912824|GC_ID:11|PMID:25858245 ncbi_taxonomy owl:Class GO:0016999 biolink:NamedThing antibiotic metabolic process The chemical reactions and pathways involving an antibiotic, a substance produced by or derived from certain fungi, bacteria, and other organisms, that can destroy or inhibit the growth of other microorganisms. tmpaxzxjjyw_mondo_relaxed.owl antibiotic metabolism owl:Class NCBITaxon:480118 biolink:NamedThing Eremoneura tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032804 biolink:NamedThing ectodermal dysplasia 15, hypohidrotic/hair type tmpaxzxjjyw_mondo_relaxed.owl ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE|ECTD15 DOID:0111651|OMIM:618535 owl:Class MONDO:0014785 biolink:NamedThing microcephaly, short stature, and impaired glucose metabolism 2 Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene. tmpaxzxjjyw_mondo_relaxed.owl PPP1R15B microcephaly, short stature, and impaired glucose metabolism|microcephaly, short stature, and impaired glucose metabolism type 2|MSSGM2|microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B|microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2|microcephaly, short stature, and impaired glucose metabolism 2 UMLS:C4225195|OMIM:616817 owl:Class IAO:8000012 biolink:NamedThing species subset ontology module A subset ontology that is crafted to either include or exclude a taxonomic grouping of species. tmpaxzxjjyw_mondo_relaxed.owl taxon subset species subset ontology module owl:Class MONDO:0020521 biolink:NamedThing Ehlers-Danlos syndrome type 7A tmpaxzxjjyw_mondo_relaxed.owl EDS VIIA UMLS:CN207418|OMIM:130060|ICD10:Q79.6|Orphanet:99875 owl:Class CL:0000147 biolink:NamedThing pigment cell A pigment cell is a cell that contains pigment granules. tmpaxzxjjyw_mondo_relaxed.owl chromatocyte|chromatophore VHOG:0001678 cell owl:Class MONDO:0016498 biolink:NamedThing acute pure sensory neuropathy tmpaxzxjjyw_mondo_relaxed.owl acute pure sensory GBS|acute pure sensory Guillain-Barré syndrome|acute pure sensory Guillain-BarrC) syndrome Orphanet:231450|ICD10:G61.0|UMLS:CN201501 owl:Class MONDO:0015270 biolink:NamedThing butyrylcholinesterase deficiency Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency. tmpaxzxjjyw_mondo_relaxed.owl succinylcholine sensitivity|pseudocholinesterase deficiency|apnea, postanesthetic|butyrylcholinesterase deficiency, fluoride-resistant, Japanese type|Acholinesterasemia|cholinesterase 2 deficiency|butyrylcholinesterase deficiency|Suxamethonium sensitivity|pseudocholinesterase E1|hypocholinesterasemia, fluoride-resistant, Japanese type|BCHED OMIM:617936|GARD:0007482|UMLS:C1283400|SCTID:191397007|MESH:C537417|Orphanet:132|ICD9:289.89 owl:Class UBERON:0016447 biolink:NamedThing hair of trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:426437 biolink:NamedThing Rhipicephalinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022818 biolink:NamedThing congenital aneurysms of the great vessels tmpaxzxjjyw_mondo_relaxed.owl GARD:0001472 https://rarediseases.info.nih.gov/diseases/1472/congenital-aneurysms-of-the-great-vessels owl:Class MONDO:0008875 biolink:NamedThing blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl blepharophimosis - ptosis - esotropia - syndactyly - short stature|Frydman-Cohen-Karmon syndrome|Frydman Cohen Karmon syndrome|blepharophimosis with ptosis, syndactyly, and short stature SCTID:717914000|GARD:0000905|ICD10:Q87.8|MESH:C536235|OMIM:210745|Orphanet:2057 owl:Class HP:0000309 biolink:NamedThing Abnormality of the midface An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the midface|Anomaly of the midface|Deformity of the midface|Malformation of the midface UMLS:C4021811 human_phenotype owl:Class MONDO:0013648 biolink:NamedThing familial progressive hyperpigmentation Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated. tmpaxzxjjyw_mondo_relaxed.owl hyperpigmentation, familial progressive, 1|FPH1|melanosis diffusa congenita|universal melanosis|melanosis universalis hereditaria|Fph ICD10:L81.4|UMLS:C1840392|OMIM:145250|UMLS:C1835039|Orphanet:79146|UMLS:CN205811|SCTID:715630006|OMIM:614233 owl:Class HGNC:2384 biolink:NamedThing CRY1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03315468 biolink:NamedThing shellfish meat (whole or parts) tmpaxzxjjyw_mondo_relaxed.owl SUBSET_SIREN:F15468 SIREN DB annotation: * has quality 'solid' (http://purl.obolibrary.org/obo/FOODON_03430151) * derives from 'meat part of animal' (http://purl.obolibrary.org/obo/FOODON_03420103) http://langual.org subset_siren owl:Class NCBITaxon:1489838 biolink:NamedThing Paracanthopterygii tmpaxzxjjyw_mondo_relaxed.owl Paracanthomorphacea GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:123368 biolink:NamedThing Acanthomorphata tmpaxzxjjyw_mondo_relaxed.owl Acanthomorpha GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011304 biolink:NamedThing cerebral cavernous malformation 2 Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene. tmpaxzxjjyw_mondo_relaxed.owl CCM2 familial cerebral cavernous malformation|cerebral cavernous malformation type 2|cerebral cavernous malformation 2|familial cerebral cavernous malformation caused by mutation in CCM2|cerebral cavernous malformations type 2|CCM2|cerebral cavernous malformations 2 ICD10:Q28.3|Orphanet:221061|OMIM:603284|DOID:0060670|UMLS:C1864041|MESH:C566394 owl:Class NCBITaxon:91835 biolink:NamedThing fabids tmpaxzxjjyw_mondo_relaxed.owl eurosids I GC_ID:1 NCBITaxon:4293|NCBITaxon:41939 ncbi_taxonomy owl:Class MONDO:0032729 biolink:NamedThing intellectual developmental disorder, autosomal recessive 70 tmpaxzxjjyw_mondo_relaxed.owl Mental Retardation, Autosomal Recessive 70|MRT70|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 OMIM:618402 owl:Class MONDO:0002754 biolink:NamedThing extramedullary plasmacytoma A plasma cell neoplasm arising at an extraosseous site. There is no involvement of the bone marrow. It most frequently involves the oropharynx, nasopharynx, sinuses, and larynx. Other sites of involvement include the gastrointestinal tract, central nervous system, breast, skin, lymph nodes, and bladder. A minority of patients have a monoclonal gammopathy. Treatment includes radiation therapy. Progression to plasma cell myeloma occurs in a minority of patients. tmpaxzxjjyw_mondo_relaxed.owl plasmacytoma, extramedullary|extramedullary plasmacytoma|plasmacytoma, extramedullary (not occurring in bone)|EP|extraosseous plasmacytoma|extramedullary plasmacytoma (clinical) ICD9:203.80|NCIT:C4002|ICD10:C90.2|DOID:3720|ONCOTREE:EP|SCTID:188718006|ICD10:C90.20|UMLS:C0278619|ICDO:9734/3 owl:Class MONDO:0009469 biolink:NamedThing benign recurrent intrahepatic cholestasis type 1 Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity. tmpaxzxjjyw_mondo_relaxed.owl BRIC1|benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1|benign recurrent intrahepatic cholestasis 1|cholestasis, benign recurrent intrahepatic 1|cholestasis, benign recurrent intrahepatic, type 1|Bric type 1|Summerskill syndrome|recurrent familial intrahepatic cholestasis 1|mild ATP8B1 deficiency|cholestasis, benign recurrent intrahepatic, 1|ATP8B1 benign recurrent intrahepatic cholestasis UMLS:C0268312|Orphanet:99960|GARD:0010028|OMIM:243300|DOID:0070231|ICD10:K83.1|Orphanet:65682 https://rarediseases.info.nih.gov/diseases/10028/benign-recurrent-intrahepatic-cholestasis-1 owl:Class UBERON:0007197 biolink:NamedThing hermaphroditic organism tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:36343 biolink:NamedThing composite particle A subatomic particle known to have substructure (i.e. consisting of smaller particles). tmpaxzxjjyw_mondo_relaxed.owl composite particles owl:Class MONDO:0009060 biolink:NamedThing cystic disease of lung tmpaxzxjjyw_mondo_relaxed.owl cystic disease of lung OMIM:219600|UMLS:C1384901|MESH:C563237 owl:Class MONDO:0100414 biolink:NamedThing acute myeloid leukemia, CEBPA gene mutation Any acute myeloid leukemia that has the chromosomal anomaly CEBPA gene mutation. (Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype.) tmpaxzxjjyw_mondo_relaxed.owl AML, C/EBPalpha Mutation|AML, CCAAT Enhancer Binding Protein Alpha Gene Mutation|AML, C/EBP-Alpha Gene Mutation|AML, CCAAT/Enhancer Binding Protein, Alpha Gene Mutation|AML, CEBPA gene mutation|AML, CEBP Gene Mutation|AML, CEBPA Mutation NCIT:C38372|NCIT:C151898 owl:Class MONDO:0011290 biolink:NamedThing dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation|dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and intellectual disability MESH:C566408|OMIM:603133|UMLS:C1864183 owl:Class MONDO:0018254 biolink:NamedThing spondyloepimetaphyseal dysplasia, Isidor type tmpaxzxjjyw_mondo_relaxed.owl Orphanet:370015|ICD10:Q77.8 owl:Class MONDO:0043164 biolink:NamedThing palmer pagon syndrome tmpaxzxjjyw_mondo_relaxed.owl hydrocephaly - low insertion umbilicus|familial hydrocephalus with a low-insertion umbilicus GARD:0004199|Orphanet:2184|UMLS:C2931734|MESH:C538107 owl:Class UBERON:0005216 biolink:NamedThing optic eminence surface ectoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001133 biolink:NamedThing malignant essential hypertension Essential hypertension with rapid progression to severe high blood pressure, papilledema, and renal failure. tmpaxzxjjyw_mondo_relaxed.owl accelerated essential hypertension|malignant essential hypertension DOID:10823|UMLS:C0024588|ICD9:401.0|NCIT:C34802|SCTID:78975002 owl:Class MONDO:0016315 biolink:NamedThing mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade. tmpaxzxjjyw_mondo_relaxed.owl mucopolysaccharidosis type 2A|iduronate 2-sulfatase deficiency type A|Hunter syndrome type A|mucopolysaccharidosis type II, severe form|mucopolysaccharidosis type IIA|MPS2A|mucopolysaccharidosis type 2, severe form|MPSIIA ICD10:E76.1|SCTID:73146005|Orphanet:217085|UMLS:CN201131 owl:Class MONDO:0008292 biolink:NamedThing punctate palmoplantar keratoderma type 2 Punctate palmoplantar keratoderma type 2 is a type of isolated, punctate, hereditary palmoplantar keratoderma characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections ("spiny keratosis") on the palms, soles and digits (typically confined to their volar and/or lateral aspects). Histopathologically, compact columnar parakeratosis over hypo- or agranular epidermis is observed. tmpaxzxjjyw_mondo_relaxed.owl punctate palmoplantar keratoderma type II|PPPP|palmoplantar keratoderma, punctate type II|punctate palmoplantar hyperkeratosis type 2|PPKP2|porokeratosis punctata palmaris Et plantaris|keratoderma palmoplantar, punctate type 2|type 2 punctate PPK SCTID:765096001|OMIM:175860|Orphanet:79502|DOID:0080213|GARD:0004439|UMLS:C1867982|ICD10:Q82.8 owl:Class MONDO:0002239 biolink:NamedThing post-surgical hypoinsulinemia tmpaxzxjjyw_mondo_relaxed.owl postsurgical hypoinsulinemia SCTID:190437000|ICD10:E89.1|ICD9:251.3|UMLS:C0154190|DOID:2181 owl:Class MONDO:0020378 biolink:NamedThing early-onset posterior polar cataract tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q12.0|OMIM:613763|Orphanet:98993 owl:Class GO:0008366 biolink:NamedThing axon ensheathment Any process in which the axon of a neuron is insulated, and that insulation maintained, thereby preventing dispersion of the electrical signal. tmpaxzxjjyw_mondo_relaxed.owl nerve ensheathment|cellular axon ensheathment|cellular nerve ensheathment owl:Class MONDO:0015296 biolink:NamedThing cardiac anomalies-heterotaxy syndrome Cardiac anomalies-heterotaxy syndrome is characterised by non-compaction of the ventricular myocardium, bradycardia, pulmonary valve stenosis, and secundum atrial septal defect. Laterality sequence anomalies are also present. So far, the syndrome has been described in nine members from three generations of the same family. Transmission is autosomal dominant and linkage to chromosome 6p24.3-21.2 was reported. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:137628|UMLS:CN199246|ICD10:Q28.8 owl:Class MONDO:0020360 biolink:NamedThing complete cryptophthalmia tmpaxzxjjyw_mondo_relaxed.owl DOID:0111719|Orphanet:98949|ICD10:Q11.2 owl:Class HP:0010674 biolink:NamedThing Abnormality of the curvature of the vertebral column The presence of an abnormal curvature of the vertebral column. tmpaxzxjjyw_mondo_relaxed.owl Abnormal curve of the backbone|Curved spine|Curvature of spine|Abnormal curving of the spine|Abnormal curve of the spine UMLS:C4023747 sandra1 2010-02-27T06:28:19Z human_phenotype owl:Class MONDO:0005001 biolink:NamedThing chronic gastritis Inflammation of the stomach that is chronic in nature. tmpaxzxjjyw_mondo_relaxed.owl gastritis (disease), chronic|chronic gastritis|chronic gastritis (disease) chronic gastritis (disease) UMLS:C0085695|HP:0005231|ICD9:535.4|EFO:0000337|ICD9:535.40|DOID:4029|ICD9:535.41|SCTID:8493009|NCIT:C26929|MESH:D005756 owl:Class SO:0001272 biolink:NamedThing tRNA_gene A noncoding RNA that binds to a specific amino acid to allow that amino acid to be used by the ribosome during translation of RNA. tmpaxzxjjyw_mondo_relaxed.owl tRNA gene owl:Class NCIT:C36823 biolink:NamedThing Neoplastic Spindle Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004831 biolink:NamedThing proliferative fasciitis A rapidly growing, poorly circumscribed, mass-forming proliferation that arises from the subcutaneous tissues. It is characterized by the presence of spindle-shaped fibroblasts, round ganglion-like cells, myxoid to collagenous stroma formation, and high mitotic activity. It recurs only rarely following local excision and does not metastasize. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4728|SCTID:254737002|UMLS:C0432528|DOID:9599 owl:Class HGNC:25941 biolink:NamedThing TET2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015346 biolink:NamedThing Jeavons syndrome Jeavons syndrome is an idiopathic generalized form of reflex epilepsy characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic seizures. tmpaxzxjjyw_mondo_relaxed.owl EMEA|epilepsy with eyelid myoclonias|eyelid myoclonia with and without absences ICD10:G40.3|Orphanet:139431|SCTID:716278005|UMLS:CN199399|UMLS:C4274731 owl:Class MONDO:0019399 biolink:NamedThing Isaac syndrome Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia. tmpaxzxjjyw_mondo_relaxed.owl Quantal squander syndrome|neuromyotonia|peripheral nerve hyperexcitability|Isaac-Mertens syndrome|continuous muscle fiber activity syndrome|Isaacs' syndrome|Isaac's-Merten's syndrome|acquired neuromyotonia SCTID:305719002|GARD:0006793|ICD10:G71.1|UMLS:CN206101|UMLS:C0751919|Orphanet:84142 owl:Class NCBITaxon:6682 biolink:NamedThing Eucarida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016258 biolink:NamedThing uterine corpus carcinofibroma An uncommon malignant neoplasm arising from the uterine corpus. It is characterized by the presence of a malignant epithelial component and a benign mesenchymal (usually fibrous) component. tmpaxzxjjyw_mondo_relaxed.owl uterine corpus Carcinofibroma|Carcinofibroma of the corpus uteri UMLS:C1883485|ICD10:C54.1|NCIT:C40182|ICDO:8934/3|ICD10:C54.2|ICD10:C54.0|ICD10:C54.3|ICD10:C54.8|Orphanet:213605 owl:Class MONDO:0004873 biolink:NamedThing internal hemorrhoid A hemorrhoid which originates above the dentate line. tmpaxzxjjyw_mondo_relaxed.owl internal hemorrhoid NCIT:C35319|ICD9:455.2|ICD9:455.6|SCTID:90458007|UMLS:C0265034|DOID:9749 owl:Class GO:0033273 biolink:NamedThing response to vitamin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015628 biolink:NamedThing von Willebrand disease type 2A Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. tmpaxzxjjyw_mondo_relaxed.owl von Willebrand disease, type 2A SCTID:359714009|NCIT:C131686|UMLS:C1282968|Orphanet:166084|OMIM:613554|ICD10:D68.0 owl:Class MONDO:0008793 biolink:NamedThing angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert tmpaxzxjjyw_mondo_relaxed.owl Divry-Van Bogaert syndrome|Corticomeningeal angiomatosis, myelination of the white substance of the centrum ovale, hemianopsia and marbled skin|angiomatosis, diffuse Corticomeningeal, of Divry and van Bogaert OMIM:206570|GARD:0008587|UMLS:C1859783|MESH:C536367 https://rarediseases.info.nih.gov/diseases/8587/angiomatosis-diffuse-corticomeningeal-of-divry-and-van-bogaert owl:Class MONDO:0019540 biolink:NamedThing diffuse alveolar hemorrhage tmpaxzxjjyw_mondo_relaxed.owl diffuse alveolar hemorrhage|diffuse alveolar hemorrhage (disease) diffuse alveolar hemorrhage (disease) HP:0025420|Orphanet:90060|ICD10:J98.4|UMLS:CN206369 owl:Class MONDO:0007625 biolink:NamedThing focal epithelial hyperplasia of the oral mucosa tmpaxzxjjyw_mondo_relaxed.owl focal epithelial hyperplasia of the oral mucosa OMIM:136400|UMLS:C1851009|MESH:C565008 owl:Class MONDO:0001132 biolink:NamedThing sexual sadism disorder A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering of a victim is sexually exciting to the individual. tmpaxzxjjyw_mondo_relaxed.owl sexual sadism MESH:D012448|ICD9:302.84|NCIT:C94358|ICD10:F65.52|SCTID:59394009|DOID:10817 owl:Class MONDO:0002579 biolink:NamedThing orbit embryonal rhabdomyosarcoma A malignant mesenchymal neoplasm that arises from the orbit. It is characterized by the presence of skeletal muscle tissue exhibiting embryonic features. tmpaxzxjjyw_mondo_relaxed.owl embryonal rhabdomyosarcoma of orbit|embryonal rhabdomyosarcoma of the orbit DOID:3258|NCIT:C6246|UMLS:C1335127 owl:Class HGNC:9832 biolink:NamedThing RAG2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:727 biolink:NamedThing Haemophilus influenzae tmpaxzxjjyw_mondo_relaxed.owl Bacterium influenzae|Mycobacterium influenzae|Coccobacillus pfeifferi|Influenza-bacillus|Haemophilus meningitidis GC_ID:11 ncbi_taxonomy owl:Class UBERON:0005665 biolink:NamedThing 3rd arch endoderm tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030862 biolink:NamedThing COACH syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl COACH3 OMIM:619113 owl:Class MONDO:0019413 biolink:NamedThing ischio-vertebral syndrome Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl ischio-vertebral dysplasia|ischio-spinal dysostosis SCTID:715654001|ICD10:Q77.8|Orphanet:85200|UMLS:C4274732|UMLS:CN206143 owl:Class MONDO:0019332 biolink:NamedThing punctate palmoplantar keratoderma type 1 Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients.. tmpaxzxjjyw_mondo_relaxed.owl PPKP1|Brauer-Buschke-Fischer syndrome|keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type|Buschke-Fischer-Brauer syndrome|type I punctate palmoplantar keratoderma|punctate palmoplantar keratoderma type I|keratoderma, palmoplantar punctate type 1 GARD:0003103|Orphanet:79501|UMLS:CN205995|OMIM:614936|ICD10:Q82.8|OMIM:148600|SCTID:717184007 owl:Class MONDO:0004597 biolink:NamedThing pulmonary embolism and infarction Localized necrosis of lung tissue caused by obstruction of the arterial blood supply, most often due to pulmonary embolism. tmpaxzxjjyw_mondo_relaxed.owl pulmonary infarction|lung infarction|infarction, pulmonary ICD9:415.19|EFO:1001408|DOID:8516|ICD9:415.1|SCTID:64662007|MESH:D054060|NCIT:C50714 Editor note: add terms for pulmonary necrosis owl:Class CHEBI:38632 biolink:NamedThing membrane transport modulator Any agent that affects the transport of molecular entities across a biological membrane. tmpaxzxjjyw_mondo_relaxed.owl membrane transport modulators owl:Class CHEBI:52208 biolink:NamedThing biophysical role tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003734 biolink:NamedThing adult central nervous system immature teratoma tmpaxzxjjyw_mondo_relaxed.owl adult central nervous system immature teratoma DOID:6018|NCIT:C27401|UMLS:C1332193 owl:Class MONDO:0004201 biolink:NamedThing pituitary hypoplasia Incomplete development of the pituitary gland. tmpaxzxjjyw_mondo_relaxed.owl pituitary hypoplasia|pituitary gland hypoplasia NCIT:C27343|DOID:7378|UMLS:C0948740 owl:Class MONDO:0010512 biolink:NamedThing intellectual disability, X-linked, syndromic, bain type tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, syndromic, bain type|MRXSB|intellectual disability, X-linked, syndromic, bain type UMLS:C4310814|OMIM:300986 owl:Class MONDO:0015057 biolink:NamedThing renin-angiotensin-aldosterone system-blocker-induced angioedema Renin-angiotensin-aldosterone system (RAAS)-blocker induced angioedema (RAE) is a type of acquired angioedema (AAE) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. tmpaxzxjjyw_mondo_relaxed.owl Raas-blocker-induced angioedema|AEACEI|angioedema induced by ACE inhibitors, susceptibility to|RAE|Raas-blocker-induced angioneurotic edema|renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema|reactive angioendotheliomatosis|susceptibility to angioedema induced by ace inhibitors MESH:C535293|ICD10:T78.3|OMIM:300909|UMLS:C1304495|GARD:0009445|SCTID:403607004|Orphanet:100057 Editor note: consider separate class for OMIM for predisposition https://github.com/monarch-initiative/mondo/issues/3945 owl:Class UBERON:0036328 biolink:NamedThing wall of coronary artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017439 biolink:NamedThing tetra-amelia tmpaxzxjjyw_mondo_relaxed.owl tetra-amelia syndrome|total amelia|Tetraamelia, autosomal recessive|tetra-amelia, autosomal recessive GARD:0005148|Orphanet:294971|SCTID:702313004|ICD10:Q73.0|HP:0003057|MESH:C536498 owl:Class MONDO:0022602 biolink:NamedThing brachydactyly small stature face anomalies tmpaxzxjjyw_mondo_relaxed.owl GARD:0000974 https://rarediseases.info.nih.gov/diseases/974/brachydactyly-small-stature-face-anomalies owl:Class MONDO:0030308 biolink:NamedThing immunodeficiency 82 with systemic inflammation tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 82 with systemic inflammation|IMD82 OMIM:619381 owl:Class MONDO:0023880 biolink:NamedThing WHIM syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:193670 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:15946 biolink:NamedThing RP1L1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:162474 biolink:NamedThing Malasseziales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008355 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 1 tmpaxzxjjyw_mondo_relaxed.owl pyloric stenosis, infantile hypertrophic|IHPS1|pyloric stenosis, infantile|pyloric stenosis, infantile hypertrophic, 1 UMLS:C1867403|OMIM:179010 owl:Class MONDO:0012938 biolink:NamedThing Diamond-Blackfan anemia 7 Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene. tmpaxzxjjyw_mondo_relaxed.owl Diamond-Blackfan anemia caused by mutation in RPL11|Diamond-Blackfan anemia 7|DBA7|RPL11 Diamond-Blackfan anemia|Diamond-Blackfan Anemia type 7 MESH:C567254|OMIM:612562|UMLS:C2675512 owl:Class MONDO:0011699 biolink:NamedThing inflammatory bowel disease 8 An inflammatory bowel disease that has material basis in variation in the chromosome region 16p. tmpaxzxjjyw_mondo_relaxed.owl inflammatory bowel disease type 8|IBD8|inflammatory bowel disease 8 UMLS:C1847719|OMIM:606668|DOID:0110904|MESH:C564682 owl:Class NCBITaxon:29547 biolink:NamedThing Epsilonproteobacteria tmpaxzxjjyw_mondo_relaxed.owl Proteobacteria epsilon subdivision|Purple bacteria, epsilon subdivision|e-proteobacteria|Campylobacterota|epsilon subgroup|epsilon proteobacteria|Epsilonbacteraeota|epsilon subdivision PMID:29720974|GC_ID:11|PMID:11837318|PMID:28484436|PMID:16403855 ncbi_taxonomy owl:Class MONDO:0022989 biolink:NamedThing diomedi bernardi placidi syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001870 https://rarediseases.info.nih.gov/diseases/1870/diomedi-bernardi-placidi-syndrome owl:Class MONDO:0042982 biolink:NamedThing GATA2 deficiency with susceptibility to MDS/AML A disorder arising from deficiency in the GATA2 with a wide spectrum of phenotypes. Autosomal dominant mutations of GATA2 cause a haploinsufficiency, which, in consequence, cause individuals to develop hematological, immunological, lymphatic, or other presentations. These often progress to severe organ (e.g. lung) failure, opportunistic infections, myelodysplastic syndrome, and/or acute myeloid leukemia. The most common clinical denominator is the propensity for myeloid neoplasia (myelodysplastic syndrome [MDS], myeloproliferative neoplasms [MPN], chronic myelomonocytic leukemia [CMML], acute myeloid leukemia [AML]). tmpaxzxjjyw_mondo_relaxed.owl GATA2 deficiency with susceptibility to MDS/AML|GATA2 deficiency|GATA2 deficiency/MonoMac syndrome GARD:0013373|NCIT:C126349|UMLS:C3280030 The most penetrant phenotype among all of the GATA2 related disease entities (MonoMAC, Emberger Syndrome, familial MDS/AML) is myeloid neoplasia; due to the absence of clearly defined and/or distinct differences in molecular mechanism (haploinsufficiency), coupled with noted phenotypic variability (both intra- and inter-familial) these entities appear to be part of a broader disease entity owl:Class MONDO:0009306 biolink:NamedThing combined immunodeficiency with skin granulomas tmpaxzxjjyw_mondo_relaxed.owl CID due to RAG 1/2 deficiency|CCHIDG|combined cellular and humoral immune defects with granulomas|combined immunodeficiency due to RAG 1/2 deficiency Orphanet:157949|ICD10:D81.1|UMLS:C2673536|MESH:C567115|OMIM:233650 owl:Class NCBITaxon:2560195 biolink:NamedThing Orthorubulavirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007882 biolink:NamedThing lattice degeneration of retina leading to retinal detachment tmpaxzxjjyw_mondo_relaxed.owl lattice degeneration of retina leading to retinal detachment MESH:C563633|UMLS:C1835491|OMIM:150500 owl:Class MONDO:0007676 biolink:NamedThing glutathione transferase activity toward trans-stilbene oxide tmpaxzxjjyw_mondo_relaxed.owl glutathione transferase activity toward trans-stilbene oxide|trans-stilbene oxide glutathione transferase activity OMIM:138340 owl:Class MONDO:0013872 biolink:NamedThing prostate cancer, hereditary, 2 Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene. tmpaxzxjjyw_mondo_relaxed.owl ELAC2 familial prostate cancer|HPC2|prostate cancer, hereditary, 2|prostate cancer, hereditary, type 2|familial prostate cancer caused by mutation in ELAC2 OMIM:614731|UMLS:C3539120 owl:Class CL:0000442 biolink:NamedThing follicular dendritic cell A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response. tmpaxzxjjyw_mondo_relaxed.owl BTO:0004267|FMA:83037 Due to its unique lineage and distinct function, this is not a type of dendritic cell; CL:0000451. cell owl:Class CL:0000473 biolink:NamedThing defensive cell A cell whose primary function is to protect the organism. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class HGNC:21645 biolink:NamedThing CHCHD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007125 biolink:NamedThing ankyloglossia A developmental abnormality in which the bottom of the tongue is attached to the floor of the mouth. tmpaxzxjjyw_mondo_relaxed.owl 'tongue-Tie'|ankyloglossia|FUSED to floor of mouth|tongue-tie NCIT:C124538|DOID:0060604|OMIM:106280|SCTID:67787004|ICD10:Q38.1|MESH:C562396|ICD9:750.0 owl:Class GO:0000792 biolink:NamedThing heterochromatin A compact and highly condensed form of chromatin. tmpaxzxjjyw_mondo_relaxed.owl nuclear heterochromatin owl:Class MONDO:0008432 biolink:NamedThing ketone compounds, ability to smell tmpaxzxjjyw_mondo_relaxed.owl ketone compounds, ability to smell 2022-04-01 OMIM:182270 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0027694 biolink:NamedThing amyotrophic lateral sclerosis type 23 tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis 23|ALS23 UMLS:CN778765|OMIM:617839|DOID:0080225 owl:Class MONDO:0001185 biolink:NamedThing dissociative amnesia A disorder characterized by a retrospective gap in memory of important personal information, usually of a traumatic or stressful nature; the memory loss far exceeds ordinary forgetfulness and is not the result of substance use or the consequence of a medical condition. tmpaxzxjjyw_mondo_relaxed.owl psychogenic amnesia NCIT:C94328|DOID:11037|SCTID:84209002|ICD10:F44.0|ICD9:300.12 owl:Class ENVO:03000008 biolink:NamedThing compaction process A physical process during which atoms, molecules, or other consituents of a material entity are forced closer together. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017556 biolink:NamedThing Madelung deformity, unilateral tmpaxzxjjyw_mondo_relaxed.owl Orphanet:295221|ICD10:Q74.0 owl:Class PATO:0070006 biolink:NamedThing bipolar morphology A cell morphology that inheres in neurons which have two principal fibres (dendrites or axon) that emerge from the soma and begin to branch some distance from it, have few spines, and branch in narrow fields. This is in contrast to bitufted morphology where branching occurs close to the soma. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018442 biolink:NamedThing acitretin/etretinate embryopathy Acitretin/Etretinate embryopathy is a teratogenic disorder due to acitretin or etretinate exposure during the first trimester of pregnancy, carrying a risk of fetal malformations of approximately 20%, including central nervous system, craniofacial, ear, thymic, cardiac and limb anomalies. tmpaxzxjjyw_mondo_relaxed.owl retinoid embryopathy|acitretin embryofetopathy|Acitretine embryofetopathy|fetal acitretin/etretinate syndrome|fetal acitretin syndrome|acitretin embryopathy MESH:C538169|UMLS:CN205049|ICD10:Q86.8|Orphanet:40366|SCTID:725287006|GARD:0000468 https://rarediseases.info.nih.gov/diseases/468/acitretin-embryopathy owl:Class UBERON:0035131 biolink:NamedThing auditory ossicle cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009336 biolink:NamedThing hemosiderosis, pulmonary, with deficiency of gamma-a globulin tmpaxzxjjyw_mondo_relaxed.owl hemosiderosis, pulmonary, with deficiency of gamma-a globulin Orphanet:99931|OMIM:235500 owl:Class MONDO:0030895 biolink:NamedThing nephrotic syndrome, type 22 tmpaxzxjjyw_mondo_relaxed.owl nephrotic syndrome, type 22|NPHS22 OMIM:619155 owl:Class MONDO:0006782 biolink:NamedThing hemometra Blood-filled uterus. tmpaxzxjjyw_mondo_relaxed.owl hematometra MESH:D006409|EFO:1000962|DOID:9958|SCTID:38280009|ICD10:N85.7|ICD9:621.4 owl:Class CHEBI:36527 biolink:NamedThing glycosylsphingoid tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010307 biolink:NamedThing Stridor Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. tmpaxzxjjyw_mondo_relaxed.owl Noisy breathing UMLS:C0038450|SNOMEDCT_US:248573009|MSH:D012135|UMLS:C0237304|SNOMEDCT_US:70407001 Stridor is different from wheezing by the following reasons. It is louder over the neck than chest wall. Secondly; stridor is mainly inspiratory. If occurs in expiration, it is usually biphasic. On the other hand; wheeze is mainly expiratory and occurs during both phases. It indicates extrathoracic upper-airway obstruction (supraglottic lesions like laryngomalacia, vocal cord lesion) when heard on inspiration. It occurs in expiration if associated with intrathoracic tracheobronchial lesions (tracheomalacia, bronchomalacia, and extrinsic compression). It occurs in both phases if lesion is fixed, for example, stenosis. Stridor is caused by the turbulent flow passing through a narrowed segment of the upper respiratory tract. peter 2009-07-12T02:16:48Z human_phenotype owl:Class MONDO:0023023 biolink:NamedThing neonatal dacryocystitis Inflammation of the lacrimal sac in a newborn due to blocked drainage of tears or infection. tmpaxzxjjyw_mondo_relaxed.owl Neonatal dacryocystitis|neonatal dacryocystitis|Neonatal Dacryocystitis UMLS:C0270178|NCIT:C116819|SCTID:23735003 owl:Class MONDO:0001363 biolink:NamedThing blind hypertensive eye tmpaxzxjjyw_mondo_relaxed.owl SCTID:264008|UMLS:C0154789|ICD9:360.42|DOID:11776 owl:Class BFO:0000001 biolink:NamedThing entity tmpaxzxjjyw_mondo_relaxed.owl Entity entity Entity doesn't have a closure axiom because the subclasses don't necessarily exhaust all possibilites. For example Werner Ceusters 'portions of reality' include 4 sorts, entities (as BFO construes them), universals, configurations, and relations. It is an open question as to whether entities as construed in BFO will at some point also include these other portions of reality. See, for example, 'How to track absolutely everything' at http://www.referent-tracking.com/_RTU/papers/CeustersICbookRevised.pdf|BFO 2 Reference: In all areas of empirical inquiry we encounter general terms of two sorts. First are general terms which refer to universals or types:animaltuberculosissurgical procedurediseaseSecond, are general terms used to refer to groups of entities which instantiate a given universal but do not correspond to the extension of any subuniversal of that universal because there is nothing intrinsic to the entities in question by virtue of which they – and only they – are counted as belonging to the given group. Examples are: animal purchased by the Emperortuberculosis diagnosed on a Wednesdaysurgical procedure performed on a patient from Stockholmperson identified as candidate for clinical trial #2056-555person who is signatory of Form 656-PPVpainting by Leonardo da VinciSuch terms, which represent what are called ‘specializations’ in [81 entity An entity is anything that exists or has existed or will exist. (axiom label in BFO2 Reference: [001-001]) the Second World War|Verdi’s Requiem|Julius Caesar|your body mass index owl:Class NCBITaxon:43750 biolink:NamedThing Sciomyzoidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0025276 biolink:NamedThing Abnormality of skin adnexa physiology Any functional anomaly of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. tmpaxzxjjyw_mondo_relaxed.owl 2016-12-18 14:51:16+00:00 HPO:probinson human_phenotype owl:Class MONDO:0043191 biolink:NamedThing radial defect robin sequence tmpaxzxjjyw_mondo_relaxed.owl Bruce winship syndrome|bilateral radial defects club foot deformity micrognathia and cleft palate|Bruce Winship syndrome|bilateral radial defects, club foot deformity, micrognathia and cleft palate GARD:0004624|MESH:C536261|UMLS:C2931143 owl:Class HGNC:13886 biolink:NamedThing ABCG5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000020 biolink:NamedThing inner cell mass cell Any native cell that is part of a inner cell mass. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-24T23:16:53Z cell owl:Class HGNC:1394 biolink:NamedThing CACNA1G tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043125 biolink:NamedThing mcpherson robertson cammarano syndrome tmpaxzxjjyw_mondo_relaxed.owl dominantly inherited ptosis, strabismus and ectopic pupils GARD:0003431|UMLS:C2931751|MESH:C538161 owl:Class MONDO:0011315 biolink:NamedThing Osebold skeletal dysplasia/osteolysis syndrome tmpaxzxjjyw_mondo_relaxed.owl Osebold skeletal dysplasia/osteolysis syndrome UMLS:C1863922|OMIM:603389|MESH:C566380 owl:Class MONDO:0007246 biolink:NamedThing calcific aortic disease with immunologic abnormalities, familial tmpaxzxjjyw_mondo_relaxed.owl calcific aortic disease with immunologic abnormalities, familial UMLS:C1861974|MESH:C566182|OMIM:114065 owl:Class MONDO:0007192 biolink:NamedThing beta-amino acids, renal transport of tmpaxzxjjyw_mondo_relaxed.owl taurine renal reabsorption|AABT|BETA-amino acids, renal TRANSPORT OF OMIM:109660|UMLS:C1862289 owl:Class MONDO:0010189 biolink:NamedThing vitiligo, progressive, with intellectual disability and urethral duplication tmpaxzxjjyw_mondo_relaxed.owl vitiligo, progressive, with mental retardation and urethral duplication|vitiligo, progressive, with intellectual disability and urethral duplication OMIM:277465|UMLS:C1848532|MESH:C564739 owl:Class MONDO:0042912 biolink:NamedThing Schlegelberger-Grote syndrome tmpaxzxjjyw_mondo_relaxed.owl triphalangeal thumbs thrombocytopathy deafness|Schlegelberger Grote syndrome|syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear GARD:0000255|MESH:C536635|UMLS:C2931273 owl:Class MONDO:0019825 biolink:NamedThing congenital coronary artery aneurysm Congenital coronary artery aneurysm is a rare congenital coronary artery malformation defined as a more than 1.5 fold the normal size dilatation of a coronary artery segment with no identified underlying inflammatory or connective tissue disease. It may be asymptomatic or may present with angina pectoris, myocardial infarction, sudden cardiac death, fistula formation, pericardial tamponade, compression of surrounding structures, or congestive heart failure. tmpaxzxjjyw_mondo_relaxed.owl congenital coronary aneurysm Orphanet:95491|ICD10:Q24.5|SCTID:204378009 owl:Class MONDO:0004583 biolink:NamedThing transient retinal arterial occlusion A partial, temporary occlusion of the retinal artery. tmpaxzxjjyw_mondo_relaxed.owl transient retinal arterial occlusion|transient arterial retinal occlusion|retinal transient arterial occlusion SCTID:87224000|UMLS:C0154840|NCIT:C35193|DOID:8482|ICD9:362.34|ICD10:H34.0 owl:Class MONDO:0100099 biolink:NamedThing retrograde cricopharyngeus dysfunction A syndrome characterized by the inability to belch, abdominal bloating and discomfort/nausea, or chest pain, especially after eating, socially awkward gurgling noises from the chest and lower neck as though the esophagus is churning and straining to eject the air, excessive flatulence, social inhibition, and difficulty vomiting (common but not universal). Botulinum toxin (BT) injection into the cricopharyngeus muscle (CPM) is done for both diagnosis and treatment of R-CPD. tmpaxzxjjyw_mondo_relaxed.owl R-CPD http://orcid.org/0000-0001-5208-3432 https://github.com/monarch-initiative/mondo/issues/3712 owl:Class ECTO:5000000 biolink:NamedThing exposure to geographic feature A exposure event involving the interaction of an exposure receptor to geographic feature. tmpaxzxjjyw_mondo_relaxed.owl geographic feature exposure owl:Class MONDO:0012785 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 3 tmpaxzxjjyw_mondo_relaxed.owl pyloric stenosis, infantile hypertrophic, 3|IHPS3 MESH:C567435|UMLS:C2677588|OMIM:612017 owl:Class MONDO:0032603 biolink:NamedThing polydactyly, postaxial, type A9 tmpaxzxjjyw_mondo_relaxed.owl POLYDACTYLY, POSTAXIAL, TYPE A9|PAPA9 OMIM:618219 owl:Class MONDO:0021929 biolink:NamedThing traumatic myositis ossificans Myositis Ossificans resulting from trauma. tmpaxzxjjyw_mondo_relaxed.owl Traumatic myositis ossificans|Myositis ossificans circumscripta|traumatic myositis ossificans|Traumatic Myositis Ossificans|myositis ossificans traumatica|Myositis ossificans traumatica|myositis ossificans circumscripta NCIT:C35081|ICD9:728.12|SCTID:70917000|UMLS:C0040798 owl:Class MONDO:0032647 biolink:NamedThing global developmental delay, lung cysts, overgrowth, and wilms tumor tmpaxzxjjyw_mondo_relaxed.owl Glow Syndrome|GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR|GLOW OMIM:618272 owl:Class MONDO:0020423 biolink:NamedThing stenosis or atrophy of the coronary ostium tmpaxzxjjyw_mondo_relaxed.owl coronary ostial stenosis or atresia|stenosis or atresia of the coronary ostium ICD10:Q24.5|Orphanet:99087 owl:Class MONDO:0001927 biolink:NamedThing pulmonary valve insufficiency Dysfunction of the pulmonary valve characterized by incomplete valve closure. tmpaxzxjjyw_mondo_relaxed.owl pulmonary valve regurgitation|pulmonic valve regurgitation|pulmonary incompetence|pulmonary regurgitation|pulmonary incompetence, non-rheumatic|regurgitation, pulmonary|pulmonary regurg.|pulmonary valvular regurgitation|pulmonary insufficiency following trauma and surgery|pulmonic insufficiency NCIT:C50848|MESH:D011665|DOID:14265|SCTID:194995005 owl:Class MONDO:0700030 biolink:NamedThing complete trisomy 21 Trisomy 21 characterized by the presence of an extra chromosome 21 in all the cells of the organism. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class UBERON:0003414 biolink:NamedThing mesenchyme of mandible tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003051 biolink:NamedThing non specific chronic endometritis Chronic endometritis characterized by the presence of plasmacytic infiltrates in the endometrium. There are no granulomas present. tmpaxzxjjyw_mondo_relaxed.owl non specific chronic endometritis NCIT:C27625|UMLS:C1335061|DOID:4560 owl:Class GO:0000262 biolink:NamedThing mitochondrial chromosome A chromosome found in the mitochondrion of a eukaryotic cell. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial genome|mtDNA|mitochondrial DNA owl:Class MONDO:0012790 biolink:NamedThing amyotrophic lateral sclerosis type 10 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene. tmpaxzxjjyw_mondo_relaxed.owl frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related|amyotrophic lateral sclerosis 10|TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions|frontotemporal dementia with Tdp43 inclusions, Tardbp-related|amyotrophic lateral sclerosis 10, with or without frontotemporal dementia|amyotrophic lateral sclerosis caused by mutation in TARDBP|TARDBP amyotrophic lateral sclerosis|ALS10|amyotrophic lateral sclerosis 10 with or without frontotemporal dementia|amyotrophic lateral sclerosis type 10|Ftld-TDP, Tardbp-related UMLS:C3502417|Orphanet:275872|OMIM:612069|DOID:0060201|Orphanet:803|MESH:C567429|GARD:0010497 https://rarediseases.info.nih.gov/diseases/10497/amyotrophic-lateral-sclerosis-type-10 owl:Class MONDO:0010709 biolink:NamedThing early-onset parkinsonism-intellectual disability syndrome Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter. tmpaxzxjjyw_mondo_relaxed.owl X-linked recessive basal ganglia disorder with intellectual disability|WSMN|Parkinsonism, early-onset, with intellectual disability|basal ganglia disorder with mental retardation|WAISMAN syndrome|Waisman syndrome|Wsn|Parkinsonism, early onset with intellectual disability|basal ganglia disorder with intellectual disability|early-onset parkinsonism-intellectual disability syndrome|basal ganglion disorder with mental retardation|Laxova-Opitz syndrome|X-linked recessive basal ganglia disorder with mental retardation|Laxova Brown hogan syndrome|BGMR|Parkinsonism, early onset with mental retardation|Parkinsonism, early-onset, with mental retardation|basal ganglion disorder with intellectual disability Orphanet:2379|ICD10:G20|MESH:C537179|UMLS:C0796195|SCTID:716107009|OMIM:311510|GARD:0003203|DOID:0111781 owl:Class MONDO:0001567 biolink:NamedThing nephrocalcinosis Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to thecondition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome,and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys. tmpaxzxjjyw_mondo_relaxed.owl hypercalcemic nephropathy SCTID:48638002|UMLS:C0027709|NCIT:C84918|MESH:D009397|DOID:12679|ICD9:275.49|GARD:0007177 https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis owl:Class HP:0002917 biolink:NamedThing Hypomagnesemia An abnormally decreased magnesium concentration in the blood. tmpaxzxjjyw_mondo_relaxed.owl Low blood magnesium levels|Low blood Mg levels SNOMEDCT_US:190855004|UMLS:C0151723 HP:0003284 human_phenotype owl:Class PATO:0002181 biolink:NamedThing displaced A positional quality inhering in a bearer by virtue the bearer's being changed in position. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004195 biolink:NamedThing thymic dysplasia The developmental arrest and architectural distortion of the thymus that results in immunodeficiency. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1331541|NCIT:C27802|DOID:7350 owl:Class MONDO:0002768 biolink:NamedThing true hermaphroditism A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia. tmpaxzxjjyw_mondo_relaxed.owl true hermaphroditism|ovotestis|hermaphroditism UMLS:C0019269|MESH:D012734|PATO:0001340|NCIT:C45909|DOID:3763|NCIT:C85207|SCTID:237821001 owl:Class MONDO:0016400 biolink:NamedThing metal transport or utilization disorder with epilepsy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN226914|Orphanet:225692 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0001421 biolink:NamedThing frontal lobe neoplasm A neoplasm involving a frontal lobe. tmpaxzxjjyw_mondo_relaxed.owl tumor of the frontal lobe|tumor of frontal lobe|frontal lobe tumor|malignant neoplasm of frontal lobe|frontal lobe neoplasm (disease)|neoplasm of frontal lobe|neoplasm of the frontal lobe ICD10:C71.1|UMLS:C1263886|ICD9:191.1|SCTID:126954003|NCIT:C5572|DOID:12016 owl:Class MONDO:0004318 biolink:NamedThing pulmonary type ovarian small cell carcinoma An aggressive small cell neuroendocrine carcinoma that arises from the ovary. Morphologically, it resembles the small cell carcinoma that arises from the lung. tmpaxzxjjyw_mondo_relaxed.owl ovarian small cell carcinoma, pulmonary type DOID:7650|NCIT:C40440|UMLS:C1518737 owl:Class MONDO:0003795 biolink:NamedThing ovarian small cell carcinoma A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type. tmpaxzxjjyw_mondo_relaxed.owl ovarian small cell carcinoma|small cell carcinoma of the ovary|ovary small cell carcinoma|ovarian small cell NEC|ovarian small cell cancer|small cell carcinoma of ovary|small cell ovarian carcinoma|ovarian small cell neuroendocrine carcinoma|SCCO DOID:6179|ICD10:C56|Orphanet:370396|UMLS:C2212006|GARD:0010411|NCIT:C27390|EFO:1000431|ONCOTREE:SCCO owl:Class NCBITaxon:2601530 biolink:NamedThing Eutetramitia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0012480 biolink:NamedThing cloacal mucosa tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007580 biolink:NamedThing esterase ES-2, regulator for tmpaxzxjjyw_mondo_relaxed.owl esterase ES-2, regulator for OMIM:133300 Editor note: consider obsoleting owl:Class HGNC:16876 biolink:NamedThing ARNT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019753 biolink:NamedThing localized Castleman disease Localized Castleman disease (LCD) is the most common form of Castleman disease (CD) and it is usually asymptomatic or it may present with enlarged lymph nodes. LCD may be cured by surgical resection. tmpaxzxjjyw_mondo_relaxed.owl localized Angiofollicular lymphoid hyperplasia|Unicentric Castleman disease|Unicentric angiofollicular ganglionic hyperplasia|localized Castleman disease|Unicentric angiofollicular lymph hyperplasia ICD10:D36.0|UMLS:CN206685|GARD:0006005|UMLS:C3898582|NCIT:C115200|Orphanet:93685 owl:Class MONDO:0014083 biolink:NamedThing agammaglobulinemia 7, autosomal recessive Any autosomal agammaglobulinemia in which the cause of the disease is a mutation in the PIK3R1 gene. tmpaxzxjjyw_mondo_relaxed.owl agammaglobulinemia, autosomal recessive, due to PIK3R1 defect|agammaglobulinemia 7, autosomal recessive|autosomal agammaglobulinemia caused by mutation in PIK3R1|PIK3R1 autosomal agammaglobulinemia|AGM7 OMIM:615214|Orphanet:229717|UMLS:C3554689|Orphanet:33110 owl:Class CHEBI:36688 biolink:NamedThing heterotricyclic compound tmpaxzxjjyw_mondo_relaxed.owl heterotricyclic compound|heterotricyclic compounds owl:Class GO:0001848 biolink:NamedThing complement binding Binding to a component or product of the complement cascade. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032655 biolink:NamedThing visual impairment and progressive phthisis bulbi tmpaxzxjjyw_mondo_relaxed.owl VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI|VIPB OMIM:618283|DOID:0070356 owl:Class MONDO:0032629 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 25 tmpaxzxjjyw_mondo_relaxed.owl MC1DN25|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 OMIM:618246 owl:Class MONDO:0011685 biolink:NamedThing polysubstance abuse, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl polysubstance abuse, susceptibility to|PSAB|drug addiction, susceptibility to OMIM:606581 owl:Class MONDO:0017252 biolink:NamedThing congenital pulmonary airway malformation type 4 tmpaxzxjjyw_mondo_relaxed.owl CPAM type 4|congenital cystic adenomatous malformation of the lung type 4|congenital cystic adenomatoid malformation of the lung type 4 ICD10:Q33.0|Orphanet:280854 owl:Class MONDO:0011956 biolink:NamedThing autism, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl AUTS3|autism, susceptibility to, 3 OMIM:608049 owl:Class MONDO:0032768 biolink:NamedThing developmental and epileptic encephalopathy, 76 tmpaxzxjjyw_mondo_relaxed.owl Developmental Delay, Epileptic Encephalopathy, Cerebral Atrophy, and Abnormal Myelination|DEE76|EIEE76|epileptic encephalopathy, early infantile, 76|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76 OMIM:618468 owl:Class MONDO:0012974 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 59 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 11p14.2-q12.3. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 59|autosomal dominant nonsyndromic deafness type 59|deafness, autosomal dominant 59|autosomal dominant deafness 59|DFNA59 UMLS:C2675238|MESH:C567216|DOID:0110583|OMIM:612642|ICD10:H90.3 owl:Class MONDO:0400005 biolink:NamedThing refeeding syndrome Potentially fatal shifts in fluids and electrolytes that may occur in malnourished patients receiving artificial refeeding (whether enterally or parenterally). tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-7463-6306 owl:Class MONDO:0007210 biolink:NamedThing Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay tmpaxzxjjyw_mondo_relaxed.owl Brachmann-de Lange-like facial changes with microcephaly, metatarsus adductus, and developmental delay MESH:C566206|OMIM:112370|UMLS:C1862171 owl:Class MONDO:0011900 biolink:NamedThing porokeratosis 4, disseminated superficial actinic type tmpaxzxjjyw_mondo_relaxed.owl porokeratosis 4, disseminated superficial actinic type|POROK4|porokeratosis, disseminated superficial actinic, 2 UMLS:C1843180|Orphanet:79152|OMIM:607728 owl:Class CHEBI:33597 biolink:NamedThing homocyclic compound A cyclic compound having as ring members atoms of the same element only. tmpaxzxjjyw_mondo_relaxed.owl homocyclic compound|isocyclic compounds|homocyclic compounds owl:Class HGNC:30927 biolink:NamedThing SLC6A20 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:22586 biolink:NamedThing antioxidant A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides. tmpaxzxjjyw_mondo_relaxed.owl antioxidants|antoxidant|antioxydant owl:Class MONDO:0018780 biolink:NamedThing congenital generalized hypercontractile muscle stiffness syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:476406 owl:Class MONDO:0005697 biolink:NamedThing cerebral toxoplasmosis Infections of the brain caused by the protozoan toxoplasma gondii that primarily arise in individuals with immunologic deficiency syndromes (see also aids-related opportunistic infections). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include seizures, altered mentation, headache, focal neurologic deficits, and intracranial hypertension. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3) tmpaxzxjjyw_mondo_relaxed.owl encephalitis due to acquired toxoplasmosis|Toxoplasma encephalitis|meningoencephalitis due to toxoplasmosis DOID:10551|SCTID:192701001|EFO:0007200|ICD9:130.0|MESH:D016781 owl:Class HGNC:24858 biolink:NamedThing MFF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019531 biolink:NamedThing hemolytic anemia due to glutathione reductase deficiency Haemolytic anaemia due to glutathione reductase (GSR) deficiency is characterised by nearly complete absence of GSR activity in erythrocytes. tmpaxzxjjyw_mondo_relaxed.owl HEMOLYTIC ANEMIA DUE TO GLUTATHIONE REDUCTASE DEFICIENCY OMIM:618660|ICD10:D55.1|Orphanet:90030 MONDO:0032856 owl:Class MONDO:0010552 biolink:NamedThing Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita MESH:C538077|OMIM:302803|UMLS:C1844864 owl:Class UBERON:0004984 biolink:NamedThing mucosa of seminal vesicle tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:8045 biolink:NamedThing Gadidae tmpaxzxjjyw_mondo_relaxed.owl Ranicipitidae|tadpole cod|cods GC_ID:1 NCBITaxon:185742 ncbi_taxonomy owl:Class NCBITaxon:1759442 biolink:NamedThing Trichosporonaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022737 biolink:NamedThing choroideremia hypopituitarism This is an X-linked recessive retinal degenerative disease that leads to degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye. Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain. tmpaxzxjjyw_mondo_relaxed.owl choroideraemia co-occurrent with hypopituitarism|choroideremia co-occurrent with hypopituitarism|choroideremia hypopituitarism|choroideraemia hypopituitarism SCTID:715417002|UMLS:C4275146|GARD:0001312 https://rarediseases.info.nih.gov/diseases/1312/choroideremia-hypopituitarism owl:Class CHEBI:64709 biolink:NamedThing organic acid Any organic molecular entity that is acidic and contains carbon in covalent linkage. tmpaxzxjjyw_mondo_relaxed.owl organic acids owl:Class MONDO:0032607 biolink:NamedThing vertebral anomalies and variable endocrine and T-cell dysfunction tmpaxzxjjyw_mondo_relaxed.owl VETD|VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION DOID:0070345|OMIM:618223 owl:Class MONDO:0007755 biolink:NamedThing hyperimmunoglobulin G1(A1) syndrome tmpaxzxjjyw_mondo_relaxed.owl hyperimmunoglobulin G1(A1) syndrome|Immunoglobulin heavy chain regulator OMIM:144120|UMLS:C1840429|MESH:C564173 owl:Class NCBITaxon:314145 biolink:NamedThing Laurasiatheria tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:11214319|PMID:12878460|PMID:11214318 ncbi_taxonomy owl:Class MONDO:0004681 biolink:NamedThing learning disability A group of disorders that affect a person's ability to learn or process specific types of information which is in contrast to his/her apparent level of intellect. tmpaxzxjjyw_mondo_relaxed.owl learning disorder|Academic skill disorder SCTID:1855002|NCIT:C89334|ICD9:315.2|UMLS:CN229495|MESH:D007859|ICD10:F81.9|DOID:8927 owl:Class MONDO:0016356 biolink:NamedThing diffuse cutaneous systemic sclerosis Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement). tmpaxzxjjyw_mondo_relaxed.owl DcSSc|dSSc|progressive cutaneous systemic sclerosis|progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma NCIT:C116791|Orphanet:220393|ICD10:M34.0|GARD:0009751 https://rarediseases.info.nih.gov/diseases/9751/diffuse-cutaneous-systemic-sclerosis owl:Class MONDO:0011519 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 23 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant 23|autosomal dominant nonsyndromic deafness type 23|autosomal dominant deafness 23|autosomal dominant nonsyndromic deafness 23|deafness, autosomal dominant nonsyndromic sensorineural 23|autosomal dominant nonsyndromic deafness caused by mutation in SIX1|SIX1 autosomal dominant nonsyndromic deafness|DFNA 23|DFNA23|deafness, autosomal dominant type 23 OMIM:605192|UMLS:C1854594|DOID:0110553|MESH:C565357|GARD:0001708|ICD10:H90.3 owl:Class MONDO:0006309 biolink:NamedThing mucinous gastric adenocarcinoma A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools. tmpaxzxjjyw_mondo_relaxed.owl mucinous gastric adenocarcinoma|mucinous adenocarcinoma of the stomach|MSTAD|stomach mucinous adenocarcinoma|mucinous adenocarcinoma of stomach|mucinous stomach adenocarcinoma ONCOTREE:MSTAD|EFO:1000386|NCIT:C5248|UMLS:C1334809|DOID:3716 owl:Class UBERON:0012241 biolink:NamedThing male urethral meatus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011231 biolink:NamedThing febrile seizures, familial, 2 tmpaxzxjjyw_mondo_relaxed.owl febrile seizures, familial, 2|FEB2|convulsions, familial febrile, 2 MESH:C566541|UMLS:C1865342|OMIM:602477|DOID:0111310 owl:Class MONDO:0008924 biolink:NamedThing congenital cataract-ichthyosis syndrome Congenital cataract-ichthyosis syndrome is characterized by congenital cataract associated with ichthyosis. It has been described in less than ten patients from two unrelated families. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Syndermotic cataract and congenital ichthyosis|cataract and congenital ichthyosis Orphanet:1376|MESH:C538281|GARD:0001145|OMIM:212400|UMLS:C1859315 owl:Class CHEBI:76840 biolink:NamedThing EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor An EC 1.14.* (oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitor that interferes with the action of any enzyme in the EC 1.14.99.* (miscellaneous) category. tmpaxzxjjyw_mondo_relaxed.owl EC 1.14.99.* (miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen) inhibitors|miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.99.*) inhibitor|EC 1.14.99.* inhibitor|miscellaneous oxidoreductase acting on paired donors, with incorporation or reduction of molecular oxygen (EC 1.14.99.*) inhibitors|EC 1.14.99.* inhibitors owl:Class MONDO:0013813 biolink:NamedThing dystonia 21 Primary dystonia, DYT21 type is a subtype of mixed dystonia with a late-onset form of pure torsion dystonia. tmpaxzxjjyw_mondo_relaxed.owl DYT21|dystonia 21|dystonia type 21|primary dystonia, DYT21 type OMIM:614588|ICD10:G24.1|DOID:0090046|Orphanet:306734|UMLS:C3281236 owl:Class MONDO:0009184 biolink:NamedThing epidermolysis bullosa with diaphragmatic hernia tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa with diaphragmatic hernia MESH:C565588|OMIM:226735 owl:Class MONDO:0032649 biolink:NamedThing hypotrichosis 14 tmpaxzxjjyw_mondo_relaxed.owl HYPOTRICHOSIS 14|HYPT14 OMIM:618275|DOID:0080582 owl:Class MONDO:0017603 biolink:NamedThing ALK-negative anaplastic large cell lymphoma ALK-negative anaplastic large cell lymphoma (ALK- ALCL) is a type of ALCL, a rare and aggressive peripheral T-cell non-Hodgkin lymphoma affecting lymph nodes and extranodal sites, which is characterized by the lack of expression of a protein called anaplastic lymphoma kinase (ALK). tmpaxzxjjyw_mondo_relaxed.owl ALK- anaplastic large cell lymphoma|ALK-negative anaplastic large cell lymphoma|ALCL, ALK-|anaplastic large cell lymphoma, ALK-negative|ALK- ALCL Orphanet:300903|ICD10:C84.7|NCIT:C37194|ICDO:9702/3|EFO:1000083|UMLS:C1332078 owl:Class MONDO:0025130 biolink:NamedThing swine vesicular disease An enterovirus infection of swine clinically indistinguishable from foot-and-mouth disease, vesicular stomatitis, and vesicular exanthema of swine. It is caused by a strain of human enterovirus B. tmpaxzxjjyw_mondo_relaxed.owl swine vesicular diseases|vesicular diseases, swine|vesicular disease, swine MESH:D013555|UMLS:C0039010 owl:Class MONDO:0006218 biolink:NamedThing gallbladder biliary intraepithelial neoplasia A neoplastic, non-invasive lesion that affects the gallbladder epithelium. It is characterized by the presence of atypical epithelial cells with an increased nuclear/cytoplasmic ratio, nuclear hyperchromasia, and loss of nuclear polarity. tmpaxzxjjyw_mondo_relaxed.owl gallbladder dysplasia|gallbladder biliary intraepithelial neoplasia|gallbladder BilIN|gallbladder intraepithelial neoplasia|intracystic biliary intraepithelial neoplasia|intracystic BilIN NCIT:C43606|EFO:1000265|UMLS:C1708174 owl:Class MONDO:0032679 biolink:NamedThing combined oxidative phosphorylation deficiency 37 tmpaxzxjjyw_mondo_relaxed.owl COXPD37|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 OMIM:618329|DOID:0111499 owl:Class MONDO:0010244 biolink:NamedThing CGF1 tmpaxzxjjyw_mondo_relaxed.owl CGF1|cognitive function 1, social|social cognition UMLS:C1848140|OMIM:300082 owl:Class HP:0100533 biolink:NamedThing Inflammatory abnormality of the eye Inflammation of the eye, parts of the eye or the periorbital region. tmpaxzxjjyw_mondo_relaxed.owl Inflammatory abnormality of the eye|Ocular inflammation UMLS:C4020969 doelkens 2010-12-20T03:53:42Z HP:0007891 human_phenotype owl:Class MONDO:0017477 biolink:NamedThing lower limb hypertrophy Lower limb hypertrophy is a rare, genetic, non-syndromic developmental defect during embryogenesis characterized by uni- or bilateral overgrowth of lower limbs involving bones and/or soft tissues and resulting in an abnormal increase in leg length and/or width. Hypertrophy presents either as a proportionate overgrowth of entire limb or involves only the proximal or distal parts of it. Phenotype ranges from mild hypertrophy without functional disability to massively hypertrophied limb with knee flexion and ankle equinus contractures and macrodystrophia lipomatosa. Patients may also present vascular abnormalities (e.g. cutaneous angiomas, varicose veins) and myalgia. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q74.2|Orphanet:295051 owl:Class MONDO:0018083 biolink:NamedThing transient tyrosinemia of the newborn Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. tmpaxzxjjyw_mondo_relaxed.owl transient neonatal tyrosinemia|tyrosine-oxidase temporary deficiency|transient tyrosinemia of the neonate ICD10:P74.5|UMLS:CN204402|Orphanet:3402|GARD:0005388 owl:Class MONDO:0030337 biolink:NamedThing cutis laxa, autosomal recessive, type 2E tmpaxzxjjyw_mondo_relaxed.owl ARCL2E|cutis laxa, autosomal recessive, type 2E OMIM:619451 owl:Class MONDO:0016688 biolink:NamedThing fibrillary astrocytoma The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO) tmpaxzxjjyw_mondo_relaxed.owl fibrillary astrocytic tumors|fibrillary astrocytoma MedDRA:10065889|NCIT:C4322|ICDO:9420/3|UMLS:C0334582|Orphanet:251601|DOID:6726|ICD10:C71.9|MESH:D001254 owl:Class MONDO:0010448 biolink:NamedThing moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism|chromosome Xq28 deletion syndrome, 3.4-Kb|MYMY4|syndromic Moyamoya disease|Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism OMIM:300845|UMLS:C3151857|Orphanet:280679 owl:Class MONDO:0009958 biolink:NamedThing adult Refsum disease A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues. tmpaxzxjjyw_mondo_relaxed.owl doc 11 (phytanic acid type)|Refsum disease, adult, 1|heredopathia atactica polyneuritiformis|phytanic-CoA hydroxylase deficiency|hereditary motor and sensory neuropathy 4|hypertrophic neuropathy of Refsum|HMSN 4|adult Refsum disease due to PHYH|phytanic acid oxidase deficiency|adult Refsum disease|Refsum's disease|hereditary sensory and motor neuropathy type 4|Refsum disease, classic|HSMN IV|RDPA|HMSN type IV|Refsum disease|disorder of cornification 11 (phytanic acid type)|Refsum disease with increased pipecolic acidemia|hereditary motor and sensory neuropathy type 4|classic Refsum disease MESH:D012035|OMIM:266510|ICD10:G60.1|GARD:0005691|ICD9:272.8|OMIM:266500|OMIM:600964|ICD9:356.3|Orphanet:773|NCIT:C85043|MESH:C535517|UMLS:C1833022|DOID:10582|SCTID:25362006|MedDRA:10038275|GARD:0004371 Curator note: do not confuse with Infantial Refsum, see https://omim.org/entry/266500 https://rarediseases.info.nih.gov/diseases/5691/refsum-disease owl:Class MONDO:0009762 biolink:NamedThing nystagmus, congenital, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl nystagmus, congenital, autosomal recessive|Nystagmus, congenital motor, autosomal recessive OMIM:257400|MESH:C564938|GARD:0009609|UMLS:C3151571 owl:Class MONDO:0009026 biolink:NamedThing Costello syndrome Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. tmpaxzxjjyw_mondo_relaxed.owl faciocutaneoskeletal syndrome|Costello syndrome|FCS syndrome|myopathy, congenital, with excess of muscle spindles|CSTLO DOID:0050469|GARD:0001550|OMIM:218040|UMLS:C0587248|NCIT:C84652|ICD10:Q87.8|SCTID:309776008|MESH:D056685|Orphanet:3071|ICD9:799.89|MedDRA:10067380 https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome owl:Class MONDO:0004618 biolink:NamedThing diplegia of upper limb tmpaxzxjjyw_mondo_relaxed.owl diplegia, upper|diplegia of upper limbs ICD10:G83.0|ICD9:344.2|UMLS:C0154701|DOID:862|SCTID:54099005 owl:Class UBERON:0035132 biolink:NamedThing auditory ossicle pre-cartilage element tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012973 biolink:NamedThing inflammatory bowel disease 26 An inflammatory bowel disease that has material basis in variation in the chromosome region 12q15. tmpaxzxjjyw_mondo_relaxed.owl inflammatory bowel disease 26|IBD26|inflammatory bowel disease type 26 OMIM:612639|DOID:0110901|MESH:C567217|UMLS:C2675249 owl:Class MONDO:0001685 biolink:NamedThing chronic follicular conjunctivitis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155147|SCTID:39429002|ICD9:372.12|ICD10:H10.43|DOID:13326 owl:Class CL:0002663 biolink:NamedThing myocardial endocrine cell of atrium A myocardial endocrine cell that is part of the atrium. tmpaxzxjjyw_mondo_relaxed.owl FMA:83389 tmeehan 2011-07-11T02:45:39Z cell owl:Class MONDO:0011711 biolink:NamedThing specific language impairment 2 tmpaxzxjjyw_mondo_relaxed.owl SLI2|specific language impairment quantitative trait locus on chromosome 19|specific language impairment 2 OMIM:606712|UMLS:C1847605 owl:Class MONDO:0100381 biolink:NamedThing acute myeloid leukemia, t(6;11)(q27;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(6;11)(q27;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q27) of chromosome 6 and the long arm (q23) of chromosome 11. It is associated with the development of de novo acute myeloid leukemia.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(6;11)(q27;q23.3)|AML, t(6;11)(q27;q23) NCIT:C132105|NCIT:C36610 owl:Class PATO:0000467 biolink:NamedThing present A quality inhering in a bearer by virtue of the bearer's existence. tmpaxzxjjyw_mondo_relaxed.owl present in organism owl:Class MONDO:0024418 biolink:NamedThing muscular fibrosis multifocal obstructed vessels tmpaxzxjjyw_mondo_relaxed.owl GARD:0003857|Orphanet:2033 Editor note: not in ORDO as of Apr 29 2018 owl:Class MONDO:0024234 biolink:NamedThing Seckel like syndrome majoor-krakauer type tmpaxzxjjyw_mondo_relaxed.owl Bird-headed dwarfism microcephaly micrognathia GARD:0004781 https://rarediseases.info.nih.gov/diseases/4781/seckel-like-syndrome-majoor-krakauer-type owl:Class HGNC:9594 biolink:NamedThing PTGER2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016043 biolink:NamedThing isolated cleft lip Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic cleft lip (disease)|isolated cleft lip (disease) ICD10:Q36.1|OMIM:608874|OMIM:119530|OMIM:602966|Orphanet:199302|OMIM:612858|MedDRA:10009259|OMIM:129400|ICD10:Q36.0|ICD10:Q36.9|OMIM:608371|OMIM:225060|OMIM:600757|OMIM:610361 owl:Class MONDO:0019653 biolink:NamedThing familial idiopathic steroid-resistant nephrotic syndrome with minimal changes tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206526|ICD10:N04.0|Orphanet:93216 owl:Class HP:0009804 biolink:NamedThing Tooth agenesis The absence of one or more teeth from the normal series by a failure to develop tmpaxzxjjyw_mondo_relaxed.owl Failure of development of some teeth|Dental agenesis|Fewer teeth than normal|Decreased tooth count|Decreased number of teeth|Missing some teeth|Reduced number of teeth|Tooth agenesis|Teeth, agenesis UMLS:C4024202|UMLS:C4083050 Teeth agenesis needs to be confirmed by X-rays. Teeth agenesis encompasses hypodontia, oligodontia, and anodontia. The total number and the type of teeth missing should be added to the description. The clinical absence of a tooth due to a disturbed eruption should not be termed teeth agenesis but a missing tooth. 2009-02-14T06:20:53Z human_phenotype owl:Class MONDO:0001694 biolink:NamedThing diffuse interstitial keratitis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155089|ICD10:H16.32|DOID:13353|ICD9:370.52|SCTID:17157001 owl:Class GO:0004370 biolink:NamedThing glycerol kinase activity Catalysis of the reaction: ATP + glycerol = sn-glycerol 3-phosphate + ADP + 2 H(+). tmpaxzxjjyw_mondo_relaxed.owl ATP:glycerol-3-phosphotransferase activity|glycerokinase activity|GK|glyceric kinase activity|ATP:glycerol 3-phosphotransferase activity|glycerol kinase (phosphorylating) owl:Class GO:0035441 biolink:NamedThing cell migration involved in vasculogenesis The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012008 biolink:NamedThing Lelis syndrome Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia, hypohidrotic, with acanthosis nigricans|Lelis syndrome|ectodermal dysplasia-acanthosis nigricans syndrome MESH:C564261|OMIM:608290|GARD:0010367|SCTID:719429003|Orphanet:140936|UMLS:C1842307 https://rarediseases.info.nih.gov/diseases/10367/lelis-syndrome owl:Class MONDO:0019325 biolink:NamedThing phakomatosis cesioflammea tmpaxzxjjyw_mondo_relaxed.owl phakomatosis pigmentovascularis type 2 ICD9:759.6|Orphanet:79483|ICD10:Q85.8|UMLS:CN205984|SCTID:703284009 owl:Class MONDO:0019329 biolink:NamedThing microcystic lymphatic malformation tmpaxzxjjyw_mondo_relaxed.owl capillary lymphangioma|microcystic infiltrating lymphatic malformation|superficial lymphatic malformation|capillary lymphatic malformation|superficial lymphangioma|microcystic lymphangioma|cutaneous lymphangioma circumscriptum GARD:0013020|Orphanet:79490|ICD10:D18.1 owl:Class MONDO:0009544 biolink:NamedThing macrocephaly/megalencephaly syndrome, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl Fryns Dereymaeker Haegeman syndrome|macrocephaly/megalencephaly syndrome, autosomal recessive|MGCPH|intellectual disability, macrocephaly, short stature and craniofacial dysmorphism|mental retardation, macrocephaly, short stature and craniofacial dysmorphism OMIM:248000|GARD:0000148|MESH:C537453|UMLS:C3806412|Orphanet:2477 owl:Class MONDO:0017801 biolink:NamedThing atypical Meigs syndrome tmpaxzxjjyw_mondo_relaxed.owl incomplete Meigs syndrome|atypical Demons-Meigs syndrome Orphanet:314466|UMLS:CN203760|ICD10:D27 owl:Class MONDO:0010413 biolink:NamedThing intellectual disability, X-linked 95 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked 95|MRX95|intellectual disability, X-linked 95 UMLS:C2678034|MESH:C567470|OMIM:300716|Orphanet:777 owl:Class NCBITaxon:1930602 biolink:NamedThing Psocodea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007831 biolink:NamedThing insect Stings, hypersensitivity to tmpaxzxjjyw_mondo_relaxed.owl insect Stings, hypersensitivity to OMIM:147540 owl:Class MONDO:0006800 biolink:NamedThing ideomotor apraxia A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57) tmpaxzxjjyw_mondo_relaxed.owl classic apraxia|limb-kinetic apraxia (finding)|transcortical apraxia|ideomotor dyspraxia|classic apraxia (finding) [ambiguous]|transcortical apraxia (finding)|limb-kinetic apraxia MESH:D020240|DOID:4627|EFO:1000980|ICD9:315.8|MedDRA:10021216|SCTID:229706001 owl:Class MONDO:0054794 biolink:NamedThing hydrocephalus, congenital, 3, with brain anomalies tmpaxzxjjyw_mondo_relaxed.owl hydrocephalus, nonsyndromic, autosomal recessive 3, formerly|HYC3|hydrocephalus, nonsyndromic, autosomal recessive 3|hydrocephalus, CONGENITAL, 3, with brain anomalies OMIM:617967 owl:Class MONDO:0021571 biolink:NamedThing multiple sclerosis, susceptibility to 1 tmpaxzxjjyw_mondo_relaxed.owl multiple sclerosis, susceptibility to|disseminated sclerosis|MS1|multiple sclerosis, susceptibility to, 1|MS|susceptibility to multiple sclerosis UMLS:CN031763|OMIM:126200 owl:Class NCBITaxon:803 biolink:NamedThing Bartonella quintana tmpaxzxjjyw_mondo_relaxed.owl Rochalimaea quintana|Rickettsia weigli|Wolhynia qintanae|Rickettsia pediculi|Burnetia (Rocha-limae) wolhynica|Rickettsia wolhynica|Rickettsia quintana PMID:8240958|GC_ID:11 ncbi_taxonomy owl:Class GO:0045823 biolink:NamedThing positive regulation of heart contraction Any process that activates or increases the frequency, rate or extent of heart contraction. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cardiac contraction|activation of heart contraction|up-regulation of heart contraction|upregulation of heart contraction|up regulation of heart contraction|stimulation of heart contraction owl:Class MONDO:0010571 biolink:NamedThing otopalatodigital syndrome type 2 Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. tmpaxzxjjyw_mondo_relaxed.owl faciopalatoosseous syndrome|oto-palato-digital syndrome type 2|cranioorodigital syndrome|OPD2|FPO|OPD 2 syndrome|otopalatodigital syndrome, type II|OPD syndrome 2|Andre syndrome|otopalatodigital syndrome, type 2|OPD II syndrome|cranio-oro-digital syndrome ICD10:Q87.0|Orphanet:669|Orphanet:90652|ICD9:759.89|MESH:C538089|GARD:0005802|OMIM:304120|DOID:0111784|SCTID:42432003 owl:Class SO:0001235 biolink:NamedThing replicon A region containing at least one unique origin of replication and a unique termination site. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011265 biolink:NamedThing tooth agenesis, selective, 2 tmpaxzxjjyw_mondo_relaxed.owl tooth agenesis, selective, 2|hypodontia/oligodontia 2|STHAG2 MESH:C566513|UMLS:C1865092|OMIM:602639 owl:Class MONDO:0010718 biolink:NamedThing absent radius-anogenital anomalies syndrome Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. tmpaxzxjjyw_mondo_relaxed.owl radius absent anogenital anomalies|radial aplasia and anogenital anomalies|radial aplasia, X-linked UMLS:C1839410|GARD:0004633|Orphanet:3016|MESH:C535281|OMIM:312190 owl:Class MONDO:0006196 biolink:NamedThing endometrial serous adenocarcinoma A high grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor. tmpaxzxjjyw_mondo_relaxed.owl uterine serous adenocarcinoma|uterine serous papillary adenocarcinoma|uterine corpus serous adenocarcinoma|endometrial serous adenocarcinoma|uterine serous carcinoma|serous endometrial adenocarcinoma|uterine papillary serous carcinoma EFO:1000238|NCIT:C27838 owl:Class CL:0002303 biolink:NamedThing pigmented ciliary epithelial cell A ciliated epithelial cell of the retina, this cell type uptakes sodium chloride and passes it to non-pigmented ciliary epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl PE FMA:70606 tmeehan 2010-09-13T04:09:27Z cell owl:Class HGNC:6773 biolink:NamedThing SMAD7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class SO:0000571 biolink:NamedThing miRNA_encoding A region that can be transcribed into a microRNA (miRNA). tmpaxzxjjyw_mondo_relaxed.owl miRNA encoding owl:Class NCBITaxon:544448 biolink:NamedThing Tenericutes tmpaxzxjjyw_mondo_relaxed.owl Mollicutota|Mollicutaeota PMID:26654112|PMID:29458499|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0020817 biolink:NamedThing miliaria vesiculosa tmpaxzxjjyw_mondo_relaxed.owl SCTID:201195008 owl:Class MONDO:0001272 biolink:NamedThing functional diarrhea tmpaxzxjjyw_mondo_relaxed.owl SCTID:47812002|DOID:11371|ICD9:564.5|UMLS:C0156173|ICD10:K59.1 owl:Class MONDO:0005361 biolink:NamedThing eosinophilic esophagitis Eosinophilic esophagitis (EoE) is a chronic, allergic disease of the esophagus characterized clinically by symptoms of esophageal dysfunction (including vomiting, dysphagia, feeding disorders, food impaction and abdominal pain) which persist after treatment with proton pump inhibitors (PPIs). tmpaxzxjjyw_mondo_relaxed.owl EoE ICD9:530.13|SCTID:235599003|Orphanet:73247|OMIM:610247|ICD10:K20|UMLS:C0341106|EFO:0004232|DOID:13922|NCIT:C27105|MedDRA:10064212|ICD10:K20.0|MESH:D057765|OMIM:613412 owl:Class GO:0008119 biolink:NamedThing thiopurine S-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether. tmpaxzxjjyw_mondo_relaxed.owl S-adenosyl-L-methionine:thiopurine S-methyltransferase activity|mercaptopurine methyltransferase activity|6-thiopurine transmethylase activity|TPMT|thiopurine methyltransferase activity owl:Class MONDO:0011982 biolink:NamedThing autoimmune thyroid disease, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl autoimmune thyroid disease, susceptibility to, type 3|autoimmune thyroid disease, susceptibility to, 3|AITD3 OMIM:608175 Editor note: TODO check causative gene; check ORDO synonyms owl:Class MONDO:0015284 biolink:NamedThing heart-hand syndrome type 2 Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation). tmpaxzxjjyw_mondo_relaxed.owl Tabatznik syndrome|atriodigital dysplasia type 2|heart-hand syndrome 2 Orphanet:1350|GARD:0009847|MESH:C536784|UMLS:C2931323|SCTID:721010003|ICD10:Q87.2 owl:Class MONDO:0018007 biolink:NamedThing mosaic genome-wide paternal uniparental disomy tmpaxzxjjyw_mondo_relaxed.owl androgenetic/biparental mosaicism|genome-wide paternal uniparental disomy mosaicism|Mosaic genome-wide paternal UPD Orphanet:329813|UMLS:CN230278 owl:Class MONDO:0017946 biolink:NamedThing ABeta amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages. tmpaxzxjjyw_mondo_relaxed.owl ABetaD23N amyloidosis|hereditary cerebral hemorrhage with amyloidosis, Iowa type|HCHWA, Iowa type|cerebral amyloid angiopathy, APP-related, Iowa variant ICD10:E85.4+|OMIM:605714|ICD10:I68.0*|Orphanet:324708 owl:Class MONDO:0016978 biolink:NamedThing poorly differentiated thymic neuroendocrine carcinoma tmpaxzxjjyw_mondo_relaxed.owl SCTID:717921000|ICD10:C37|Orphanet:263339|UMLS:CN202280 owl:Class MONDO:0054764 biolink:NamedThing neurodegeneration with brain iron accumulation 8 tmpaxzxjjyw_mondo_relaxed.owl neurodegeneration with brain iron accumulation 8|NBIA8 OMIM:617917|UMLS:CN895591 owl:Class MONDO:0000293 biolink:NamedThing coenurosis A parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata) and are caused by the coenurus, the larval stage of these worms. This disease occurs mainly in sheep and other ungulates, but occasionally can occur in humans too by accidental ingestion of worms' eggs. tmpaxzxjjyw_mondo_relaxed.owl coenurosis|sturdy|caenurosis|infection by tapeworm larva|coenuriasis|infection by larvae of multiceps DOID:0050251|ICD9:123.8|SCTID:24360007|UMLS:C0009225 owl:Class MONDO:0001030 biolink:NamedThing keratoconus, stable condition tmpaxzxjjyw_mondo_relaxed.owl stable condition keratoconus UMLS:C0155131|SCTID:193844000|ICD9:371.61|DOID:10428|ICD10:H18.61 owl:Class NCBITaxon:4891 biolink:NamedThing Saccharomycetes tmpaxzxjjyw_mondo_relaxed.owl Hemiascomycetes GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003512 biolink:NamedThing mediastinal mesenchymal tumor A benign or malignant soft tissue neoplasm of the mediastinum. Representative examples of benign mediastinal soft tissue neoplasms include chondroma, leiomyoma, lipoma, and rhabdomyoma. Representative examples of malignant mediastinal soft tissue neoplasms include angiosarcoma, leiomyosarcoma, liposarcoma, osteosarcoma, rhabdomyosarcoma, and synovial sarcoma. tmpaxzxjjyw_mondo_relaxed.owl soft tissue neoplasm of the mediastinum|mediastinal soft tissue neoplasm|soft tissue tumor of mediastinum|mediastinal soft tissue tumor|soft tissue neoplasm of mediastinum|soft tissue tumor of the mediastinum UMLS:C1334669|DOID:5560|NCIT:C6637 owl:Class MONDO:0012757 biolink:NamedThing lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis Orphanet:137631|SCTID:721977007|OMIM:611926|ICD10:D82.8|UMLS:C3150156 owl:Class MONDO:0021021 biolink:NamedThing craniodiaphyseal dysplasia, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl dominantly inherited craniodiaphyseal dysplasia|Schaefer Stein Oshman syndrome|CDD|craniodiaphyseal dysplasia, dominant|craniodiaphyseal dysplasia, autosomal dominant OMIM:122860|MESH:C567275|GARD:0000249 owl:Class MONDO:0007951 biolink:NamedThing masticatory muscles, hypertrophy of tmpaxzxjjyw_mondo_relaxed.owl masseter muscle Hypertrophy|masticatory muscles, hypertrophy of MESH:C563600|OMIM:154850|SCTID:699649006 owl:Class MONDO:0018813 biolink:NamedThing high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement tmpaxzxjjyw_mondo_relaxed.owl Orphanet:480541 owl:Class MONDO:0002851 biolink:NamedThing mediastinum rhabdomyosarcoma A malignant mesenchymal tumor with skeletal muscle differentiation affecting the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl mediastinum rhabdomyosarcoma (disease)|mediastinal rhabdomyosarcoma|rhabdomyosarcoma of the mediastinum|rhabdomyosarcoma of mediastinum|rhabdomyosarcoma (disease) of mediastinum UMLS:C1334677|DOID:4049|NCIT:C6617 owl:Class MONDO:0003555 biolink:NamedThing Bartholin gland adenosquamous carcinoma A carcinoma that arises from the Bartholin gland and is characterized by the presence of malignant glandular epithelial cells and malignant squamous epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl Bartholin's gland adenosquamous carcinoma|major vestibular gland adenosquamous carcinoma|Bartholin gland adenosquamous carcinoma NCIT:C40296|DOID:5630|UMLS:C1511050 owl:Class MONDO:0013423 biolink:NamedThing immunodeficiency due to MASP-2 deficiency Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency due to MASP-2 deficiency|lectin complement activation pathway, defect in, 2|MASP2 deficiency UMLS:C3151085|Orphanet:331187|OMIM:613791|ICD10:D84.1|MESH:C565360 owl:Class HP:0004324 biolink:NamedThing Increased body weight Abnormally increased body weight. tmpaxzxjjyw_mondo_relaxed.owl Increased body weight|Weight gain MSH:D015430|SNOMEDCT_US:262286000|SNOMEDCT_US:8943002|UMLS:C0043094|SNOMEDCT_US:161831008 peter 2008-02-27T03:21:00Z HP:0045083 human_phenotype owl:Class MONDO:0002914 biolink:NamedThing childhood brain stem neoplasm A neoplasm that affects the brain stem and occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl childhood neoplasm of the brain stem|childhood tumor of the brain stem|childhood neoplasm of the brainstem|childhood tumor of the brainstem|brain stem neoplasm|pediatric brainstem cancer|pediatric tumor of the brain stem|pediatric neoplasm of brainstem|childhood brainstem cancer|pediatric tumor of brain stem|pediatric neoplasm of brain stem|pediatric tumor of the brainstem|pediatric brainstem tumor|brainstem cancer of childhood|childhood neoplasm of brainstem|childhood brainstem tumor|pediatric brain stem tumor|childhood neoplasm of brain stem|pediatric neoplasm of the brain stem|childhood brain stem neoplasm|pediatric brainstem neoplasm|childhood brain stem tumor|childhood brainstem neoplasm|pediatric brain stem neoplasm|pediatric tumor of brainstem|childhood tumor of brainstem|pediatric neoplasm of the brainstem|childhood tumor of brain stem EFO:1001767|NCIT:C5969|UMLS:C1332951|DOID:4206 owl:Class MONDO:0000966 biolink:NamedThing pleomorphic lipoma A benign circumscribed tumor characterized by small spindle cells, rounded hyperchromatic cells and multinucleated giant cells with radially arranged nuclei. tmpaxzxjjyw_mondo_relaxed.owl pleomorphic lipoma|pleomorphic lipoma (morphologic abnormality) ICDO:8854/0|DOID:10192|NCIT:C3703|UMLS:C0205823|SCTID:404059000|MESH:D008067 owl:Class MONDO:0010882 biolink:NamedThing aphalangy-syndactyly-microcephaly syndrome Aphalangy-syndactyly-microcephaly is an extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl APHALANGIA, partial, with syndactyly and DUPLICATION of metatarsal IV|Aphalangia partial with syndactyly and duplication of metatarsal IV|Aphalangia, partial, with syndactyly and Duplication of metatarsal 4|Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4 MESH:C563942|GARD:0000748|OMIM:600384|Orphanet:1113|UMLS:C1838161|ICD10:Q87.2 https://rarediseases.info.nih.gov/diseases/748/aphalangia-partial-with-syndactyly-and-duplication-of-metatarsal-iv owl:Class NCBITaxon:197913 biolink:NamedThing Gammainfluenzavirus tmpaxzxjjyw_mondo_relaxed.owl Influenzavirus C GC_ID:1 ncbi_taxonomy owl:Class HGNC:3430 biolink:NamedThing ERBB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001552 biolink:NamedThing dyscalculia A wide group of related learning disorders characterized by difficulties with mathematics and manipulating numbers; the difficulty with math may be caused or exacerbated by visuo-spatial or language processing difficulties. tmpaxzxjjyw_mondo_relaxed.owl dyscalculia (disease)|disorder of arithmetical skills|dyscalculia|mathematics disorder dyscalculia (disease) HP:0002442|NCIT:C97165|ICD9:315.1|SCTID:47916000|MESH:D060705|DOID:12568 owl:Class MONDO:0060745 biolink:NamedThing intellectual developmental disorder with or without epilepsy or cerebellar ataxia tmpaxzxjjyw_mondo_relaxed.owl IDDECA|intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060|UMLS:CN252646 owl:Class MONDO:0017997 biolink:NamedThing telecanthus-hypertelorism-strabismus-pes cavus syndrome Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:3293|UMLS:CN204205 owl:Class MONDO:0002107 biolink:NamedThing unilateral hyperactive labyrinth tmpaxzxjjyw_mondo_relaxed.owl hyperactive unilateral labyrinthine dysfunction|hyperactive labyrinth, unilateral DOID:1777|ICD9:386.51|UMLS:C0155515 owl:Class MONDO:0008402 biolink:NamedThing cleft palate-large ears-small head syndrome Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed. tmpaxzxjjyw_mondo_relaxed.owl cleft palate large ears small head|cleft palate, microcephaly, large ears, and short stature|Say-Barber-Hobbs syndrome|SAY syndrome|Say Barber Hobbs syndrome UMLS:C1867023|OMIM:181180|GARD:0000162|MESH:C536621|SCTID:763130006|ICD10:Q87.8|Orphanet:2013 owl:Class HGNC:10627 biolink:NamedThing CCL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009391 biolink:NamedThing hypermetabolism due to defect in mitochondria tmpaxzxjjyw_mondo_relaxed.owl hypermetabolism due to defect in mitochondria MESH:C565498|OMIM:238800|UMLS:C1855926 owl:Class MONDO:0008959 biolink:NamedThing CHAND syndrome tmpaxzxjjyw_mondo_relaxed.owl curly hair-ankyloblepharon-nail dysplasia syndrome|CHANDS|CHAND syndrome MESH:C538074|OMIM:214350|UMLS:C0406733|Orphanet:1401|UMLS:CN199447|SCTID:239037001 owl:Class SO:0001483 biolink:NamedThing SNV SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. tmpaxzxjjyw_mondo_relaxed.owl single nucleotide variant owl:Class MONDO:0001287 biolink:NamedThing endometriosis in cutaneous scar tmpaxzxjjyw_mondo_relaxed.owl endometriosis in scar of skin|scar endometriosis ICD9:617.6|SCTID:53913001|UMLS:C0156348|DOID:11430|ICD10:N80.6 owl:Class GO:0050953 biolink:NamedThing sensory perception of light stimulus The series of events required for an organism to receive a sensory light stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3527 biolink:NamedThing EZH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020332 biolink:NamedThing systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease Systemic mastocytosis with an associated clonal hematological non-mast cell lineage disease is a form of systemic mastocytosis (SM) associated with malignancy (other than mast cell leukemia). tmpaxzxjjyw_mondo_relaxed.owl systemic mastocytosis with associated clonal haematological non-mast cell lineage disease|SMAHN|systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease (morphologic abnormality)|SM-AHNMD|systemic mastocytosis with an associated hematological neoplasm (SM-AHN)|systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease|systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease|systemic mastocytosis with an associated hematological neoplasm|SM-AHN|systemic mastocytosis with associated hematologic neoplasm EFO:1000559|NCIT:C9284|SCTID:397015000|DOID:4797|ICD10:C96.2|Orphanet:98849|ICDO:9741/3|ONCOTREE:SMAHN owl:Class FOODON:03302116 biolink:NamedThing cow milk (liquid) tmpaxzxjjyw_mondo_relaxed.owl milk|cow milk SUBSET_SIREN:F2116 SIREN DB annotation: * has quality 'liquid, low viscosity, with no visible particles' (http://purl.obolibrary.org/obo/FOODON_03430123) * derives from 'milk (mammary secretion)' (http://purl.obolibrary.org/obo/UBERON_0001913) http://langual.org subset_siren owl:Class MONDO:0100219 biolink:NamedThing growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT|GHISID2 OMIM:618985 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011124 biolink:NamedThing spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features. tmpaxzxjjyw_mondo_relaxed.owl SEMDAD|spondyloepimetaphyseal dysplasia with abnormal dentition OMIM:601668|MESH:C566644|ICD10:Q77.7|UMLS:C1866507|Orphanet:168451 owl:Class MONDO:0015462 biolink:NamedThing thin ribs-tubular bones-dysmorphism syndrome tmpaxzxjjyw_mondo_relaxed.owl Sharma-Kapoor-Ramji syndrome Orphanet:1506|ICD10:Q87.5|MESH:C537595|UMLS:C2931543 owl:Class HP:0010551 biolink:NamedThing Paraplegia/paraparesis Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023792 peter 2009-10-01T08:36:05Z human_phenotype owl:Class MONDO:0011100 biolink:NamedThing microcephaly, retinitis pigmentosa, and sutural cataract tmpaxzxjjyw_mondo_relaxed.owl microcephaly, retinitis pigmentosa, and sutural cataract MESH:C563296|UMLS:C1832214|OMIM:601537 owl:Class MONDO:0010564 biolink:NamedThing red-green color blindness Deuteranopia is a type of color vision deficiency where the green photoreceptors are absent. It affects hue discrimination in the same way as protanopia, but without the dimming effect. Like protanopia, it is hereditary, sex-linked, and found in about 1% of the male population. tmpaxzxjjyw_mondo_relaxed.owl Deutan colorblindness|reduced red-green discrimination|deuteranopia|colorblindness, partial, DEUTAN series|Green colorblindness|Deuteranomaly|CBD|partial achromatopsia, deutan type|Deutan defect EFO:0005581|SCTID:77479002|UMLS:C0155016|OMIM:303900|ICD10:H53.53|OMIM:303800|ICD9:368.52|Orphanet:319698|DOID:13909 owl:Class HP:0001269 biolink:NamedThing Hemiparesis Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. tmpaxzxjjyw_mondo_relaxed.owl Weakness of one side of body SNOMEDCT_US:127377003|UMLS:C0018989|SNOMEDCT_US:20022000|MSH:D010291 human_phenotype owl:Class MONDO:0008456 biolink:NamedThing spinocerebellar ataxia with rigidity and peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia with rigidity and peripheral neuropathy MESH:C566669|UMLS:C1866770|OMIM:183050 owl:Class MONDO:0023282 biolink:NamedThing granulomatous hypophysitis Granulomatous hypophysitis is rare pathology that mimics pituitary adenoma. tmpaxzxjjyw_mondo_relaxed.owl idiopathic granulomatous hypophysitis GARD:0006547 https://rarediseases.info.nih.gov/diseases/6547/granulomatous-hypophysitis owl:Class CHEBI:39015 biolink:NamedThing apolipoprotein Protein component on the surface of lipoprotein. tmpaxzxjjyw_mondo_relaxed.owl apolipoproteins owl:Class MONDO:0011520 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, type 2|SLEB2|systemic lupus erythematosus, susceptibility to, 2|susceptibility to systemic lupus erythematosus 2 UMLS:C1854577|OMIM:605218 owl:Class MONDO:0022613 biolink:NamedThing bruyn scheltens syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001034 https://rarediseases.info.nih.gov/diseases/1034/bruyn-scheltens-syndrome owl:Class MONDO:0019113 biolink:NamedThing benign paroxysmal torticollis of infancy Benign paroxysmal torticollis of infancy (BPTI) is a rare functional disorder characterised by recurrent episodes of torticollic posturing of the head (inclination or tilting of the head to one side) in healthy children. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:71518|ICD10:G24.3|UMLS:CN205631|SCTID:719521002 owl:Class MONDO:0021476 biolink:NamedThing benign neoplasm of tongue A benign neoplasm that involves the tongue. tmpaxzxjjyw_mondo_relaxed.owl tongue neoplasm, benign|benign tongue neoplasm|tongue benign neoplasm|benign neoplasm of the tongue|benign tumor of tongue|benign tongue tumor|benign tumor of the tongue UMLS:C0153933|SCTID:92443005|ICD10:D10.1|ICD9:210.1|NCIT:C3592 owl:Class MONDO:0017566 biolink:NamedThing macrodactyly of toes, unilateral tmpaxzxjjyw_mondo_relaxed.owl macrodactyly of foot, unilateral ICD10:Q74.2|Orphanet:295243 owl:Class MONDO:0026729 biolink:NamedThing congenital disorder of glycosylation, type ICC tmpaxzxjjyw_mondo_relaxed.owl CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc|CDG1CC OMIM:301031 owl:Class MONDO:0007835 biolink:NamedThing intussusception Telescoping or invagination of a part of the intestine into an adjacent segment. tmpaxzxjjyw_mondo_relaxed.owl invagination of intestine or colon|intussusception|intussusception of intestine|intussusception (morphologic abnormality) NCIT:C113484|OMIM:147710|DOID:8446|UMLS:C0021933|ICD9:560.0|SCTID:49723003|ICD10:K56.1|MESH:D007443 owl:Class MONDO:0019988 biolink:NamedThing pauci-immune glomerulonephritis with ANCA Pauci-immune glomerulonephritis (GN) with antineutrophil cytoplasmic antibodies (ANCA) is a form of rapidly progressive GN comprising about 90% of pauci-immune glomerulonephritis, and associated with the presence of circulating ANCA (mostly directed against proteinase-3 (PR3) and myeloperoxidase (MPO)). Patients usually present with hematuria and rapidly declining renal function, often leading to dialysis within weeks without treatment. Cutaneous, pulmonary, musculoskeletal and nervous involvement may be observed in case of systemic disease, and the correlation between ANCA titer and disease activity has been demonstrated. tmpaxzxjjyw_mondo_relaxed.owl pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody Orphanet:97563|ICD10:N05.7|UMLS:CN206923 owl:Class MONDO:0000257 biolink:NamedThing acute diarrhea Acute form of diarrhea. tmpaxzxjjyw_mondo_relaxed.owl diarrhea, acute|diarrhea (disease), acute|diarrheal disease, acute|acute diarrheal disease SCTID:409966000|DOID:0050140|UMLS:C0740441 owl:Class HGNC:5167 biolink:NamedThing HPV18I2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0030212 biolink:NamedThing hyaluronan metabolic process The chemical reactions and pathways involving hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine. tmpaxzxjjyw_mondo_relaxed.owl hyaluronan metabolism owl:Class HGNC:7180 biolink:NamedThing MN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100019 biolink:NamedThing ECHS1-related paroxysmal dyskinesia A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years. tmpaxzxjjyw_mondo_relaxed.owl ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia 2018-05-25 21:46:36+00:00 owl:Class HGNC:13875 biolink:NamedThing FOXP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025956 biolink:NamedThing ovarian remnant syndrome Ovarian remnant syndrome (ORS) is characterized by the presence of residual ovarian tissue after a woman has had surgery to remove one ovary or both ovaries (oophorectomy). Signs and symptoms may include pelvic pain, a pelvic mass, or the absence of menopause after oophorectomy. The condition may be caused by surgical factors leading to incomplete removal of ovarian tissue, including factors that limit surgical exposure of the ovary or compromise surgical technique. Factors may include pelvic adhesions (limiting ability to see the ovary or causing it to adhere to other tissues); anatomic variations; bleeding during surgery; or poor surgical technique. Treatment is indicated for people with symptoms and typically involves surgery to remove the residual tissue. Therapy for those who refuse surgery, cannot have surgery, or do not have a pelvic mass may include hormonal therapy to suppress ovarian function. tmpaxzxjjyw_mondo_relaxed.owl GARD:0007297 owl:Class MONDO:0005264 biolink:NamedThing transient ischemic attack A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit. tmpaxzxjjyw_mondo_relaxed.owl ischemic attack, transient|transient cerebral ischemia (disorder) [ambiguous]|transient cerebral ischaemia|transient cerebral ischemia|transient ischemic attack|attack, transient ischemic|transient ischemic attack (disease)|TIA|TIA - transient ischaemic attack|transient ischemic attacks transient ischemic attack (disease) ICD10:G45.9|ICD9:435.9|NCIT:C50781|EFO:0003764|ICD9:435|HP:0002326|SCTID:266257000|DOID:224|MESH:D002546|ICD9:435.8 owl:Class CL:0000575 biolink:NamedThing corneal epithelial cell An epithelial cell of the cornea. tmpaxzxjjyw_mondo_relaxed.owl epithelial cell of cornea CALOHA:TS-0173|FMA:70551|BTO:0004298 CL:1000431 cell owl:Class MONDO:0011307 biolink:NamedThing schizophrenia 2 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD2 on chromosome 11q14-q21. tmpaxzxjjyw_mondo_relaxed.owl schizophrenia 2|schizophrenia susceptibility locus, chromosome 11Q-related|SCZD2 OMIM:603342|UMLS:C1864010|DOID:0070078 owl:Class CL:1000718 biolink:NamedThing kidney inner medulla collecting duct principal cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001134 cell owl:Class HGNC:29944 biolink:NamedThing TENM3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017070 biolink:NamedThing total spina bifida cystica tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268748 owl:Class MONDO:0006297 biolink:NamedThing maxillary sinus adenoid cystic carcinoma An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course. tmpaxzxjjyw_mondo_relaxed.owl adenoid cystic carcinoma of the maxillary sinus|maxillary sinus adenoid cystic carcinoma|adenoid cystic carcinoma of maxillary sinus NCIT:C6239|UMLS:C1334643|EFO:1000365|DOID:7198 owl:Class CHEBI:27024 biolink:NamedThing toluenes Any member of the class of benzenes that is a substituted benzene in which the substituents include one (and only one) methyl group. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006720 biolink:NamedThing cystic, mucinous, and serous neoplasm Neoplasms containing cyst-like formations or producing mucin or serum. tmpaxzxjjyw_mondo_relaxed.owl MESH:D018297|EFO:1000889 owl:Class MONDO:0012839 biolink:NamedThing pyogenic bacterial infections due to MyD88 deficiency Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease. tmpaxzxjjyw_mondo_relaxed.owl pyogenic bacterial infections, recurrent, due to MyD88 deficiency|recurrent pyogenic bacterial infections due to MyD88 deficiency|MYD88D|MyD88 deficiency Orphanet:183713|ICD10:D84.8|UMLS:C2677092|MESH:C567379|OMIM:612260|GARD:0012638 owl:Class MONDO:0024487 biolink:NamedThing nail infection An infectious process affecting the nail. tmpaxzxjjyw_mondo_relaxed.owl nail infection UMLS:C0343026|NCIT:C78493 owl:Class MONDO:0014013 biolink:NamedThing maternal riboflavin deficiency tmpaxzxjjyw_mondo_relaxed.owl maternal riboflavin deficiency|riboflavin deficiency|RBFVD Orphanet:411712|OMIM:615026|ICD10:P00.4 owl:Class HGNC:24872 biolink:NamedThing GNAS-AS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022140 biolink:NamedThing Charles bonnet syndrome Charles Bonnet syndrome (CBS) refers to the presenceof visual hallucinations in individuals with visual acuity loss without havingpsychosis or dementia. The condition is likely caused by the brain continuing to interpret images, even in their absence. Underlying conditions of vision loss associated with Charles Bonnet syndrome are diverse (including conditions such as macular degeneration and stroke) and may affect the eye, optic nerve, or brain. Hallucinations often resolve if the underlying vision deficit is corrected and can also remit in some individuals with static or progressive vision loss. Treatment is individualized. tmpaxzxjjyw_mondo_relaxed.owl charles bonnet syndrome|CBS UMLS:C0339731|GARD:0010343|SCTID:193756007 https://rarediseases.info.nih.gov/diseases/10343/charles-bonnet-syndrome owl:Class NCBITaxon:29189 biolink:NamedThing Ammonia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008253 biolink:NamedThing platelet aggregation, spontaneous tmpaxzxjjyw_mondo_relaxed.owl platelet aggregation, spontaneous MESH:C566800|OMIM:173400|UMLS:C1868263 owl:Class MONDO:0016486 biolink:NamedThing beta-thalassemia major Beta-thalassemia (BT) major is a severe early-onset form of BT characterized by severe anemia requiring regular red blood cell transfusions. tmpaxzxjjyw_mondo_relaxed.owl Mediterranean anemia|Cooley's Anemia|Cooley anemia|Beta thalassemia Major NCIT:C129699|Orphanet:231214|ICD10:D56.1|ICD9:282.49|OMIM:613985|SCTID:26682008 owl:Class MONDO:0001601 biolink:NamedThing Plasmodium ovale malaria An malaria caused by infection with Plasmodium ovale. tmpaxzxjjyw_mondo_relaxed.owl ovale malaria|Malariaby Plasmodium ovale ICD9:084.3|ICD10:B53.0|SCTID:19341001|UMLS:C0152072|DOID:12919 owl:Class MONDO:0018322 biolink:NamedThing HSD10 disease, infantile type HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. It is characterized by normal early development until 6-18 months of life, followed by progressive neurodegeneration manifesting with developmental regression, progressive visual and hearing troubles, seizures, epilepsy, severe cardiomyopathy, lethargy, hypotonia, poor feeding, choreoathetosis, and movement disorders. Elevated blood levels of isoleucine metabolites and their excretion in urine are reported. The disease is usually fatal around 2-4 years of age. tmpaxzxjjyw_mondo_relaxed.owl 2-methyl-3-hydroxybutyric aciduria, classic type|HSD10 disease, classic type|MHBD deficiency, infantile type|HSD10 deficiency, classic type|HSD10 deficiency, infantile type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type|MHBD deficiency, classic type|2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type|2-methyl-3-hydroxybutyric aciduria, infantile type UMLS:CN204974|OMIM:300438|ICD10:E72.8|Orphanet:391428 owl:Class MONDO:0007553 biolink:NamedThing epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase UMLS:C1851570|MESH:C565049|OMIM:131880 owl:Class MONDO:0014996 biolink:NamedThing intellectual disability, autosomal recessive 58 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 58|intellectual disability, autosomal recessive type 58|ELP2-related disorder|intellectual disability, autosomal recessive 58|MRT58|ELP2 autosomal recessive non-syndromic intellectual disability|autosomal recessive intellectual disability 58|autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2|mental retardation, autosomal recessive type 58 OMIM:617270|UMLS:C4310641|GARD:0013361 owl:Class HP:0002224 biolink:NamedThing Woolly hair The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. tmpaxzxjjyw_mondo_relaxed.owl Nappy hair texture|Kinked hair|Wooly hair|Kinky hair texture|Afro-textured hair UMLS:C4072836|UMLS:C4073292|UMLS:C0343073|MEDDRA:10048017|UMLS:C4072835|SNOMEDCT_US:52564001 See figures in PMID:20464096. human_phenotype owl:Class HP:0010719 biolink:NamedThing Abnormality of hair texture An abnormality of the texture of the hair. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of hair texture|Abnormality of hair volume|Abnormality of hair curl pattern|Abnormality of hair consistency UMLS:C4072881|UMLS:C4023722|UMLS:C4073290|UMLS:C4072880 sdoelken 2010-04-20T09:41:53Z HP:0002295|HP:0003776 human_phenotype owl:Class MONDO:0010676 biolink:NamedThing muscular dystrophy, Hemizygous lethal type tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, Hemizygous lethal type OMIM:309950|UMLS:C1839671|MESH:C564097 owl:Class MONDO:0007962 biolink:NamedThing Megalodactyly A condition in which a finger or toe is larger than normal size secondary to excessive growth of the anatomical structures or abnormal accumulation of substances. tmpaxzxjjyw_mondo_relaxed.owl Megalodactyly|macrodactyly NCIT:C48900|MESH:C562546|SCTID:48449000|OMIM:155500 owl:Class MONDO:0007503 biolink:NamedThing ear without helix tmpaxzxjjyw_mondo_relaxed.owl ear without helix OMIM:128800|Orphanet:83463 owl:Class HGNC:24928 biolink:NamedThing VPS37A tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001789 biolink:NamedThing domed A curvature quality inhering in a bearer by virtue of the bearer's having a shape resembling a dome. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:59174 biolink:NamedThing hapten Any substance capable of eliciting an immune response only when attached to a large carrier such as a protein. Examples include dinitrophenols; oligosaccharides; peptides; and heavy metals. tmpaxzxjjyw_mondo_relaxed.owl haptens owl:Class MONDO:0013513 biolink:NamedThing atrial fibrillation, familial, 9 Any familial atrial fibrillation in which the cause of the disease is a mutation in the KCNJ2 gene. tmpaxzxjjyw_mondo_relaxed.owl atrial fibrillation, familial, type 9|ATFB9|atrial fibrillation, familial, 9|familial atrial fibrillation caused by mutation in KCNJ2|KCNJ2 familial atrial fibrillation UMLS:C3151431|OMIM:613980|Orphanet:334 owl:Class MONDO:0014136 biolink:NamedThing pulmonary hypertension, primary, 4 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene. tmpaxzxjjyw_mondo_relaxed.owl PPH4|pulmonary hypertension, primary, 4|primary pulmonary hypertension caused by mutation in KCNK3|KCNK3 primary pulmonary hypertension|pulmonary hypertension, primary, type 4 OMIM:615344|Orphanet:422|UMLS:C3809198 owl:Class CL:0002622 biolink:NamedThing prostate stromal cell A stromal cell of the prostate. tmpaxzxjjyw_mondo_relaxed.owl BTO:0003972 tmeehan 2011-03-14T02:11:10Z cell owl:Class MONDO:0023142 biolink:NamedThing fetal brain disruption sequence tmpaxzxjjyw_mondo_relaxed.owl GARD:0002297 https://rarediseases.info.nih.gov/diseases/2297/fetal-brain-disruption-sequence owl:Class GO:0048534 biolink:NamedThing hematopoietic or lymphoid organ development The process whose specific outcome is the progression of any organ involved in hematopoiesis (also known as hemopoiesis) or lymphoid cell activation over time, from its formation to the mature structure. Such development includes differentiation of resident cell types (stromal cells) and of migratory cell types dependent on the unique microenvironment afforded by the organ for their proper differentiation. tmpaxzxjjyw_mondo_relaxed.owl haemopoietic or lymphoid organ development|hemopoietic or lymphoid organ development|haematopoietic or lymphoid organ development owl:Class MONDO:0008263 biolink:NamedThing polycystic kidney disease 1 Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene. tmpaxzxjjyw_mondo_relaxed.owl PKD1 autosomal dominant polycystic kidney disease|Potter type 3 polycystic kidney disease, formerly|polycystic kidney disease, adult, type 1|polycystic kidney disease type 1|Potter type 3 polycystic kidney disease|polycystic kidney disease 1 with or without polycystic liver disease|APKD1|polycystic kidney disease, adult|PKD1|polycystic kidney disease, adult, type I|autosomal dominant polycystic kidney disease caused by mutation in PKD1|polycystic kidney disease 1 DOID:0110858|Orphanet:730|UMLS:C3149841|SCTID:253878003|MESH:C536326|OMIM:173900 owl:Class HP:0001787 biolink:NamedThing Abnormal delivery An abnormality of the birth process. tmpaxzxjjyw_mondo_relaxed.owl Abnormal delivery|Delivery complication SNOMEDCT_US:274127000|UMLS:C0549629 human_phenotype owl:Class MONDO:0100129 biolink:NamedThing intracranial arachoid cyst A cystic malformation that is characterized by extraparenchymal, nonneoplastic accumulations of fluid with density similar to that of cerebrospinal fluid. tmpaxzxjjyw_mondo_relaxed.owl intracranial arachnoid cysts|arachnoid cysts, intracranial OMIM:207790 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007883 biolink:NamedThing periodic fever, immunodeficiency, and thrombocytopenia syndrome tmpaxzxjjyw_mondo_relaxed.owl lazy leukocyte syndrome SCTID:71436005|OMIM:150550|MESH:C562721|ICD9:288.09|UMLS:C0272174 owl:Class MONDO:0021315 biolink:NamedThing malignant tumor of nasopharynx A cancer that involves the nasopharynx. tmpaxzxjjyw_mondo_relaxed.owl malignant nasopharyngeal neoplasm|malignant neoplasm of the nasopharynx|malignant tumor of the nasopharynx|malignant nasopharyngeal tumor|malignant neoplasm of nasopharynx|nasopharynx cancer|cancer of nasopharynx|malignant nasopharynx neoplasm NCIT:C9321|SCTID:187692001|UMLS:C0238301|ICD9:147.8|UMLS:C0153392|ICD9:147.9 owl:Class MONDO:0005173 biolink:NamedThing actinic keratosis A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, and hyperkeratotic variants. tmpaxzxjjyw_mondo_relaxed.owl senile keratosis|solar keratosis|actinic (solar) keratosis|actinic keratosis (disease)|Senile keratosis|actinic keratosis|SK - solar keratosis|Senile hyperkeratosis actinic keratosis (disease) UMLS:C0022602|ICD9:702.0|MESH:D055623|EFO:0002496|NCIT:C3148|HP:0025127|DOID:8866|SCTID:398838000|UMLS:C4282032|ICD10:L57.0|ICD9:702.19 owl:Class MONDO:0000611 biolink:NamedThing pre-malignant neoplasm A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060071 owl:Class MONDO:0054785 biolink:NamedThing multiple mitochondrial dysfunctions syndrome 6 tmpaxzxjjyw_mondo_relaxed.owl multiple MITOCHONDRIAL dysfunctions syndrome 6|MMDS6 DOID:0070332|UMLS:CN244567|OMIM:617954 owl:Class MONDO:0007913 biolink:NamedThing low density lipoprotein, variation in molecular weight of tmpaxzxjjyw_mondo_relaxed.owl LOW density lipoprotein, variation in molecular weight OF OMIM:152450 owl:Class MONDO:0010231 biolink:NamedThing intellectual disability, X-linked 20 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked 20|mental retardation, X-linked 20|MRX20 OMIM:300047|UMLS:C0796226|MESH:C563142 owl:Class MONDO:0003965 biolink:NamedThing Capgras syndrome A rare neuropsychiatric disorder whose primary feature is the delusion that relatives or close acquaintances are not the persons that they are known to be. Visual recognition appears intact but familiar persons are thought be imposters, that is, they appear similar or identical to known individuals but are not. Most cases are seen in the context of a psychotic state. However, if manifested post-traumatically, the cause is most likely due to neurologic impairment. This disorder should be contrasted with prosopagnosia, in which an individual may not recognize a familiar person at all. tmpaxzxjjyw_mondo_relaxed.owl Capgras delusion theory NCIT:C34446|DOID:6680|MESH:D002194 owl:Class MONDO:0001271 biolink:NamedThing lens subluxation A partial dislocation of the lens of the eye. tmpaxzxjjyw_mondo_relaxed.owl lens subluxation|subluxation of lens|lens subluxation (disease) lens subluxation (disease) HP:0001132|SCTID:65814009|NCIT:C34772|DOID:11364|ICD10:H27.11|MESH:D007906|UMLS:C0023316|ICD9:379.32 owl:Class MONDO:0009914 biolink:NamedThing pseudodiastrophic dysplasia Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy. tmpaxzxjjyw_mondo_relaxed.owl Pseudodiastrophic dwarfism|pseudodiastrophic dysplasia Orphanet:85174|ICD10:Q78.8|SCTID:254058002|OMIM:264180|ICD9:756.9|UMLS:C0432206|GARD:0009463|MESH:C535826 https://rarediseases.info.nih.gov/diseases/9463/pseudodiastrophic-dysplasia owl:Class MONDO:0017502 biolink:NamedThing acheiria, unilateral tmpaxzxjjyw_mondo_relaxed.owl congenital absence of hand, unilateral ICD10:Q71.3|Orphanet:295101 owl:Class MONDO:0017445 biolink:NamedThing acheiria tmpaxzxjjyw_mondo_relaxed.owl congenital absence of hand ICD10:Q71.3|Orphanet:294983|SCTID:371199008 owl:Class NCBITaxon:52564 biolink:NamedThing Oesophagostomum tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2572478 biolink:NamedThing Oesophagostominae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004135 biolink:NamedThing subacute lymphocytic thyroiditis Thyroiditis associated with painless enlargement of the thyroid gland. It occurs more frequently in females and is characterized by alterations between hyperthyroidism and hypothyroidism and the eventual return to normal thyroid gland function. tmpaxzxjjyw_mondo_relaxed.owl silent thyroiditis|Subacute painless thyroiditis|Subacute lymphocytic thyroiditis UMLS:C0271814|SCTID:361126006|DOID:7187|NCIT:C35829|UMLS:C1306804 owl:Class HGNC:16205 biolink:NamedThing MGME1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020362 biolink:NamedThing inverse Marcus-Gunn phenomenon Inverse Marcus-Gunn phenomenon is a rare congenital synkinesis where jaw opening by the pterygoid muscle (during eating or yawning) causes eyelid drooping from inhibition of the oculomotor nerve to the levator palpebrae superioris. Familial occurrence has been reported. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q07.8|UMLS:CN207213|Orphanet:98951 owl:Class MONDO:0014355 biolink:NamedThing cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis|DCWHKTA Orphanet:65282|UMLS:C4014393|OMIM:615821 owl:Class MONDO:0015613 biolink:NamedThing dentin dysplasia Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II. tmpaxzxjjyw_mondo_relaxed.owl DD|dentinal dysplasia OMIM:125420|Orphanet:1653|OMIM:125400|MESH:D003805|SCTID:109492001|ICD9:520.5|ICD10:K00.5|DOID:701 owl:Class MONDO:0007027 biolink:NamedThing non-alcoholic steatohepatitis Fatty replacement and damage to the hepatocytes not related to alcohol use. It may lead to cirrhosis and liver failure. tmpaxzxjjyw_mondo_relaxed.owl nonalcoholic Steatohepatitis|nash - nonalcoholic Steatohepatitis MedDRA:10053219|ICD10:K75.81|NCIT:C84445|EFO:1001249|DOID:0080547 owl:Class UBERON:0005035 biolink:NamedThing mucosa of left main bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:11584 biolink:NamedThing Phlebovirus tmpaxzxjjyw_mondo_relaxed.owl Phleboviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007298 biolink:NamedThing spinocerebellar ataxia type 29 Spinocerebellar ataxia type 29 (SCA29) is a rare subtype of autosomal dominant cerebellar ataxia type I (ADCA type I) characterized by very slowly progressive or non-progressive ataxia, dysarthria, oculomotor abnormalities and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia early-onset nonprogressive|SCA29|ACV|spinocerebellar ataxia 29|cerebellar ataxia, congenital nonprogressive, autosomal dominant|spinocerebellar ataxia type 29|cerebellar vermis aplasia|congenital nonprogressive spinocerebellar ataxia|aplasia of cerebellar vermis DOID:0050978|MESH:C537206|GARD:0010480|SCTID:715825009|UMLS:C4274987|UMLS:C1861732|ICD10:G11.0|OMIM:117360|Orphanet:208513 owl:Class MONDO:0012097 biolink:NamedThing spondylocostal dysostosis 2, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl SCDO2|spondylocostal dysostosis 2|spondylocostal dysostosis 2, autosomal recessive UMLS:C1837549|Orphanet:2311|OMIM:608681|GARD:0009703 owl:Class MONDO:0020474 biolink:NamedThing cheirospondyloenchondromatosis Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl generalized enchondromatosis with platyspondyly SCTID:725104005|UMLS:C4510810|Orphanet:99647 owl:Class MONDO:0011030 biolink:NamedThing epithelial basolateral chloride conductance regulator, rabbit, homolog of tmpaxzxjjyw_mondo_relaxed.owl Ebcr|epithelial basolateral chloride conductance regulator, rabbit, homolog of OMIM:601315 owl:Class SO:0000010 biolink:NamedThing protein_coding A gene which, when transcribed, can be translated into a protein. tmpaxzxjjyw_mondo_relaxed.owl protein-coding owl:Class MONDO:0032601 biolink:NamedThing inflammatory bowel disease, immunodeficiency, and encephalopathy tmpaxzxjjyw_mondo_relaxed.owl INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY|IBDIMDE OMIM:618213|Orphanet:565788 owl:Class MONDO:0012855 biolink:NamedThing Joubert syndrome 8 Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome caused by mutation in ARL13B|Joubert syndrome 8|Joubert syndrome type 8|JBTS8|ARL13B Joubert syndrome OMIM:612291|Orphanet:475|DOID:0111003|MESH:C567358|UMLS:C2676771 owl:Class MONDO:0016210 biolink:NamedThing alternating hemiplegia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209978|SCTID:404689008 owl:Class HGNC:392 biolink:NamedThing AKT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006996 biolink:NamedThing thyroid crisis Acute onset of severe, life-threatening hyperthyroidism caused by a sudden release of excessive thyroid hormone. tmpaxzxjjyw_mondo_relaxed.owl thyroid storm|thyroid crisis|thyroid crisis (disease)|thyrotoxic crisis thyroid crisis (disease) ICD9:242.91|UMLS:C0040127|ICD10:E05.5|NCIT:C112836|SCTID:29028009|HP:0011782|EFO:1001212|MedDRA:10043705|ICD9:242.81|MESH:D013958|DOID:12837 owl:Class MONDO:0041752 biolink:NamedThing paucibacillary leprosy A tuberculoid form of leprosy that is characterized by a small number of hypopigmented, well-bordered, anesthetic skin lesions with a low bacillary load, early peripheral nerve impairment, and a T-helper 1 (Th1)–mediated immune response. tmpaxzxjjyw_mondo_relaxed.owl paucibacillary leprosy|tuberculoid leprosy SCTID:416483009 owl:Class MONDO:0005235 biolink:NamedThing smoldering plasma cell myeloma A plasma cell myeloma lacking clinical manifestations and organ impairment. tmpaxzxjjyw_mondo_relaxed.owl asymptomatic myeloma|smoldering Multiple myeloma/plasma cell myeloma|smoldering myeloma|smoldering plasma cell myeloma|asymptomatic plasma cell myeloma|smoldering multiple myeloma DOID:9551|EFO:0003073|NCIT:C7149|SCTID:440422002 owl:Class MONDO:0006835 biolink:NamedThing lipoid nephrosis A glomerular disorder characterized by the electron microscopic finding of loss of podocyte foot processes. Light microscopic examination does not show glomerular changes. Patients present with proteinuria and nephrotic syndrome. tmpaxzxjjyw_mondo_relaxed.owl minimal change glomerulonephritis|nephrotic syndrome with lesion of minimal change nephrotic syndrome|minimal change nephropathy|MCNS|minimal change glomerulopathy|minimal change nephrotic syndrome|minimal change disease|lipoid nephrosis|nephrotic syndrome with lesion of minimal change glomerulonephritis|idiopathic minimal change nephrotic syndrome|nil disease GARD:0009147|MESH:D009402|NCIT:C34844|DOID:10966|MedDRA:10058325|UMLS:C0027721|SCTID:44785005|ICD10:N04|EFO:1001020 owl:Class HGNC:11766 biolink:NamedThing TGFB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006827 biolink:NamedThing lateral medullary syndrome A syndrome caused by an infarct in the vertebral or posterior inferior cerebellar artery. It is characterized by sensory defects affecting the same side of the face as the infarct and the opposite side of the trunk as the infarct. Patients experience difficulty swallowing and/or speaking. tmpaxzxjjyw_mondo_relaxed.owl PICA syndrome|Lateral medullary syndrome|Posterior inferior cerebellar artery syndrome|Wallenberg syndrome|Wallenberg's syndrome|Vertebral artery syndrome MedDRA:10024033|NCIT:C84807|EFO:1001011|UMLS:C0043019|ICD9:437.1|SCTID:78569004|GARD:0009263|DOID:3522|ICD10:G46.3|MESH:D014854 owl:Class MONDO:0016435 biolink:NamedThing acquired dermis elastic tissue disorder with decreased elastic tissue tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:228221|UMLS:CN226928 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: acquired dermis elastic tissue disorder' MONDO_0016434 owl:Class MONDO:0021812 biolink:NamedThing adnexal spiradenoma/cylindroma of a sweat gland A benign sweat gland neoplasm usually occurring in the scalp or the face. It may present as solitary or multiple papular or nodular lesions. It may be a sporadic lesion or part of Brooke-Spiegler syndrome. It arises from the dermis and has a multinodular, circumscribed appearance. The nodules contain basaloid cells with small, dark nuclei. Complete excision is usually curative. tmpaxzxjjyw_mondo_relaxed.owl cylindroma of the skin|adnexal sweat gland spiradenoma/cylindroma|cylindroma of skin|cylindroma|dermal cylindroma NCIT:C27094|SCTID:274903001|ICDO:8200/0|GARD:0008641 Editor note: See GARD:0010464 https://rarediseases.info.nih.gov/diseases/8641/adnexal-spiradenomacylindroma-of-a-sweat-gland owl:Class CHEBI:52214 biolink:NamedThing ligand Any molecule or ion capable of binding to a central metal atom to form coordination complexes. tmpaxzxjjyw_mondo_relaxed.owl ligands owl:Class MONDO:0014498 biolink:NamedThing familial cold autoinflammatory syndrome 4 Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene. tmpaxzxjjyw_mondo_relaxed.owl FCAS4|familial cold autoinflammatory syndrome type 4|familial cold autoinflammatory syndrome 4|familial cold autoinflammatory syndrome caused by mutation in NLRC4|NLRC4 familial cold autoinflammatory syndrome|NLRC4-related familial cold autoinflammatory syndrome Orphanet:47045|Orphanet:576349|OMIM:616115|UMLS:C4015276|DOID:0090065|ICD10:L50.2 owl:Class MONDO:0000849 biolink:NamedThing fibrogenesis imperfecta ossium A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. tmpaxzxjjyw_mondo_relaxed.owl baker's disease DOID:0080040 owl:Class MONDO:0007997 biolink:NamedThing microspherophakia with hernia tmpaxzxjjyw_mondo_relaxed.owl microspherophakia with hernia OMIM:157150|UMLS:C1834881|GARD:0009462|MESH:C537468 https://rarediseases.info.nih.gov/diseases/9462/microspherophakia-with-hernia owl:Class MONDO:0010881 biolink:NamedThing mesomelia-synostoses syndrome Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies. tmpaxzxjjyw_mondo_relaxed.owl mesomelia synostoses|8q13 microdeletion syndrome|dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis|mesomelia-synostoses syndrome|mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type|mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type|monosomy 8q13|Verloes-David syndrome|Del(8)q(13)|mesomelic dysplasia, syndromic|chromosome 8Q13 deletion syndrome UMLS:C1838162|MESH:C537348|SCTID:724147004|ICD10:Q74.8|Orphanet:2496|GARD:0004302|OMIM:600383 https://rarediseases.info.nih.gov/diseases/4302/mesomelia-synostoses-syndrome owl:Class MONDO:0007115 biolink:NamedThing angioma serpiginosum, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant angioma serpiginosum|angioma serpiginosum, autosomal dominant Orphanet:95429|MESH:C536365|GARD:0010189|UMLS:C1970130|OMIM:106050 https://rarediseases.info.nih.gov/diseases/10189/angioma-serpiginosum-autosomal-dominant owl:Class MONDO:0011815 biolink:NamedThing hypertension, essential, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl hypertension, essential, susceptibility to, type 3|hypertension, essential, susceptibility to, 3|Hyt3 OMIM:607329|UMLS:C1846430 owl:Class MONDO:0019617 biolink:NamedThing pituitary deficiency due to empty sella turcica syndrome tmpaxzxjjyw_mondo_relaxed.owl hypopituitarism due to empty sella turcica syndrome Orphanet:91354|ICD10:E23.0|SCTID:715668008|UMLS:CN206468|UMLS:C4275064 owl:Class MONDO:0008764 biolink:NamedThing Leber congenital amaurosis 1 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene. tmpaxzxjjyw_mondo_relaxed.owl amaurosis congenita of Leber, type 1|LCA|Leber congenital amaurosis caused by mutation in GUCY2D|GUCY2D Leber congenital amaurosis|amaurosis congenita of Leber I|Leber congenital amaurosis type 1|amaurosis congenita of Leber 1|CRB|Leber congenital amaurosis 1|LCA1|retinal blindness, congenital ICD10:H35.5|OMIM:204000|UMLS:C0339527|GARD:0000635|DOID:0110078 owl:Class MONDO:0013832 biolink:NamedThing keratoconus 8 tmpaxzxjjyw_mondo_relaxed.owl KTCN8|keratoconus 8 UMLS:C3553307|OMIM:614628 owl:Class MONDO:0004198 biolink:NamedThing testicular yolk sac tumor, solid pattern A yolk sac tumor that arises from the testis and is characterized by the presence of aggregates of polygonal malignant cells with clear cytoplasm and prominent nucleoli. tmpaxzxjjyw_mondo_relaxed.owl testicular yolk sac tumor, solid pattern|solid pattern testicular yolk sac tumor UMLS:C1515312|DOID:7360|NCIT:C39925 owl:Class MONDO:0011690 biolink:NamedThing Camurati-Engelmann disease, type 2 Camurati-Engelmann Disease not associated with TGFB1. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl CAEND2|Camurati Engelmann disease, type 2|progressive diaphyseal dysplasia with striations of the bones|Camurati-Engelmann disease, type 2 GARD:0008748|UMLS:C2931683|MESH:C537978|OMIM:606631 owl:Class MONDO:0011005 biolink:NamedThing trisomy 18-like syndrome tmpaxzxjjyw_mondo_relaxed.owl trisomy 18-like syndrome UMLS:C1832677|MESH:C563382|OMIM:601161 owl:Class MONDO:0000704 biolink:NamedThing lymphocytic colitis Microscopic colitis characterized by the accumulation of lymphocytes in the colonic epithelium and lamina propria. Patients present with chronic watery diarrhea. Colonoscopy reveals normal colonic mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples. tmpaxzxjjyw_mondo_relaxed.owl SCTID:31437008|ICD10:K52.832|ICD10:K52.89|DOID:0060184|MESH:D046730|ICD9:558.9|UMLS:C0400822|EFO:1001294|GARD:0006939|Orphanet:65279|NCIT:C27147|MedDRA:10025268 owl:Class MONDO:0012149 biolink:NamedThing attention deficit-hyperactivity disorder, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl attention Deficit-hyperactivity disorder, susceptibility to, type 1|attention deficit-hyperactivity disorder, susceptibility to, 1|Adhd1 OMIM:608903 owl:Class MONDO:0017109 biolink:NamedThing isolated partial cerebellar vermis agenesis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:269209|ICD10:Q04.3 owl:Class MONDO:0004764 biolink:NamedThing fibular collateral ligament bursitis tmpaxzxjjyw_mondo_relaxed.owl SCTID:77323000|ICD9:726.63|DOID:9358|UMLS:C0158316 owl:Class MONDO:0005052 biolink:NamedThing irritable bowel syndrome Irritable bowel syndrome (IBS) is a chronic functional condition of the lower gastrointestinal (GI) tract characterised by abdominal pain or discomfort and disordered bowel habit (diarrhoea, constipation, or fluctuation between the two). tmpaxzxjjyw_mondo_relaxed.owl IBS|irritable bowel syndrome|mucus colitis|spastic colon|IBD|psychogenic IBS|irritable colon ICD9:564.1|UMLS:C0022104|MESH:D043183|ICD10:K58.9|SCTID:10743008|DOID:9778|NCIT:C82343|EFO:0000555|ICD10:K58 Editor note: consider merging with MONDO:0005265 owl:Class MONDO:0044206 biolink:NamedThing otospondylomegaepiphyseal dysplasia, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl OSMED|Nance-Sweeney chondrodysplasia|Weissenbacher-Zweymuller syndrome, formerly|otospondylomegaepiphyseal dysplasia, autosomal recessive|OSMEDB|chondrodystrophy with sensorineural deafness|Nance-Insley syndrome|Weissenbacher-Zweymuller syndrome Orphanet:1427|OMIM:215150 owl:Class MONDO:0043969 biolink:NamedThing nocturnal paroxysmal dystonia A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. tmpaxzxjjyw_mondo_relaxed.owl paroxysmal dystonia, nocturnal|dystonias, hypnogenic paroxysmal|dystonia, sleep-related|sleep related dystonia|dystonias, sleep-related|dystonia, hypnogenic paroxysmal|paroxysmal dystonias, hypnogenic|dystonias, nocturnal paroxysmal|sleep-related dystonias|hypnogenic paroxysmal dystonias|dystonia, nocturnal paroxysmal|dystonia, nocturnal, paroxysmal|nocturnal paroxysmal dystonias|paroxysmal dystonia, hypnogenic|hypnogenic paroxysmal dystonia|paroxysmal dystonias, nocturnal|sleep-related dystonia SCTID:230500006|MESH:D020183|EFO:1001772|UMLS:C0393777 owl:Class MONDO:0002323 biolink:NamedThing cherry hemangioma A capillary hemangioma of the skin, presenting as a red papular lesion. tmpaxzxjjyw_mondo_relaxed.owl cherry hemangioma|cherry angioma|Senile naevus of skin|Senile hemangioma|Senile angioma UMLS:C0343082|DOID:2495|SCTID:5050001|NCIT:C4390 owl:Class HGNC:1689 biolink:NamedThing CD59 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0048209 biolink:NamedThing regulation of vesicle targeting, to, from or within Golgi Any process that modulates the frequency, rate, or destination of vesicle-mediated transport to, from or within the Golgi apparatus. tmpaxzxjjyw_mondo_relaxed.owl regulation of Golgi vesicle targeting owl:Class HGNC:8966 biolink:NamedThing PIGL tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8024 biolink:NamedThing NTF4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008384 biolink:NamedThing rheumatoid nodulosis A particular variant of polyarthritis associated with early manifestations of palindromic rheumatism, radiologic subchondral bone cysts, and subcutaneous rheumatoid nodules. tmpaxzxjjyw_mondo_relaxed.owl accelerated rheumatoid nodulosis|rheumatoid nodulosis GARD:0009625|SCTID:402427003|UMLS:C1304215|SCTID:402426007|OMIM:180350|MESH:D012218 https://rarediseases.info.nih.gov/diseases/9625/rheumatoid-nodulosis owl:Class MONDO:0024280 biolink:NamedThing polyarticular arthritis An arthritis affecting five or more separate joints. tmpaxzxjjyw_mondo_relaxed.owl polyarthritis|polyarticular arthritis SCTID:416956002|NCIT:C26996 owl:Class MONDO:0008679 biolink:NamedThing Wilms tumor 1 tmpaxzxjjyw_mondo_relaxed.owl Wilms tumor 1|WT1|renal Wilms tumor|nephroblastoma|Wilms' tumor|Wilms tumor type 1 UMLS:C1333015|NCIT:C3267|NCIT:C6180|Orphanet:654|UMLS:C0027708|NCIT:C40407|MESH:D009396|OMIM:194070|UMLS:C1332219|NCIT:C27730|UMLS:CN033288 owl:Class MONDO:0007828 biolink:NamedThing indifference to pain, congenital, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl insensitivity to pain, congenital, autosomal dominant|congenital analgesia, autosomal dominant|Marsili syndrome|MARSILI syndrome|MARSIS|indifference to pain, congenital, autosomal dominant UMLS:C1840219|MESH:C564128|OMIM:147430 owl:Class MONDO:0011375 biolink:NamedThing brittle bone disorder tmpaxzxjjyw_mondo_relaxed.owl brittle bone disorder OMIM:603828|UMLS:C1859069|MESH:C565842 owl:Class HGNC:105 biolink:NamedThing CNNM4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2518 biolink:NamedThing CTNS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019661 biolink:NamedThing Pfeiffer syndrome type 3 Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93260|ICD10:Q87.0|UMLS:CN206535 owl:Class MONDO:0022871 biolink:NamedThing corpus callosum agenesis of blepharophimosis robin type tmpaxzxjjyw_mondo_relaxed.owl GARD:0001538 https://rarediseases.info.nih.gov/diseases/1538/corpus-callosum-agenesis-of-blepharophimosis-robin-type owl:Class MONDO:0013574 biolink:NamedThing cutis laxa - Marfanoid syndrome tmpaxzxjjyw_mondo_relaxed.owl cutis laxa, neonatal, with MARFANOID phenotype|cutis laxa - Marfanoid syndrome SCTID:254221009|MESH:C563639|OMIM:614100|UMLS:C0432335|Orphanet:171719 owl:Class MONDO:0007385 biolink:NamedThing idiopathic spontaneous coronary artery dissection tmpaxzxjjyw_mondo_relaxed.owl idiopathic SCAD|coronary artery dissection, spontaneous Orphanet:458718|ICD10:I25.4|UMLS:C1852540|MESH:C565153|OMIM:122455 owl:Class MONDO:0022700 biolink:NamedThing cerebral palsy spastic monoplegic tmpaxzxjjyw_mondo_relaxed.owl spastic monoplegic cerebral palsy|spastic monoplegia cerebral palsy GARD:0010446 https://rarediseases.info.nih.gov/diseases/10446/cerebral-palsy-spastic-monoplegic owl:Class MONDO:0001169 biolink:NamedThing spastic monoplegia A spastic cerebral palsy that affects only one limb. tmpaxzxjjyw_mondo_relaxed.owl infantile monoplegic cerebral palsy|spastic monoplegic cerebral palsy|monoplegic infantile cerebral palsy ICD9:343.3|MESH:D002547|UMLS:C0154698|DOID:10968 owl:Class CL:0008034 biolink:NamedThing mural cell Mural cells are pericytes and the vascular smooth muscle cells (vSMCs) of the microcirculation. tmpaxzxjjyw_mondo_relaxed.owl dos 2020-02-29 17:33:55+00:00 owl:Class MONDO:0009296 biolink:NamedThing glycoprotein storage disease tmpaxzxjjyw_mondo_relaxed.owl glycoprotein storage disorder|glycoprotein storage disease UMLS:C1856275|OMIM:232900|SCTID:7810004|UMLS:C0268220|MESH:C565538 owl:Class MONDO:0008815 biolink:NamedThing argininosuccinic aciduria Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction. tmpaxzxjjyw_mondo_relaxed.owl argininosuccinic aciduria|ASL deficiency|arginosuccinase deficiency|argininosuccinatelyase deficiency|arginino succinase deficiency|deficiency of argininosuccinate lyase|inborn error of urea synthesis, arginino succinic type|argininosuccinase deficiency|argininosuccinic acid lyase deficiency|argininosuccinic acidemia|argininosuccinate lyase deficiency|ASA deficiency|urea cycle disorder, arginino succinase type|argininosuccinate acidemia|argininosuccinicaciduria DOID:14755|MESH:D056807|OMIM:207900|MedDRA:10058299|NCIT:C84569|ICD10:E72.2|GARD:0005843|SCTID:41013004|UMLS:C0268547|Orphanet:23 https://rarediseases.info.nih.gov/diseases/5843/argininosuccinic-aciduria owl:Class UBERON:0014640 biolink:NamedThing occipital gyrus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7562 biolink:NamedThing MYD88 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011554 biolink:NamedThing deafness, nonsyndromic, modifier 1 tmpaxzxjjyw_mondo_relaxed.owl deafness, nonsyndromic, modifier 1|deafness, autosomal recessive 26, modifier OF|Dfnb26, modifier of|Dfnb26, suppressor of|deafness, nonsyndromic, modifier Of, 1|DFNM1|deafness, autosomal recessive 26, modifier of|DFNB26M 2022-04-01 OMIM:605429 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0024304 biolink:NamedThing ichthyosis vulgaris The most common form of ichthyosis. It is an autosomal dominant inherited or acquired disorder characterized by scaling and desquamation of the skin. tmpaxzxjjyw_mondo_relaxed.owl ichthyosis vulgaris|common ichthyosis|fish scale disease UMLS:C0079584|GARD:0006752|NCIT:C84778 https://rarediseases.info.nih.gov/diseases/6752/ichthyosis-vulgaris owl:Class CL:0002021 biolink:NamedThing GlyA-positive erythrocyte An enucleate erythrocyte that is GlyA-positive. tmpaxzxjjyw_mondo_relaxed.owl Marker is associated with human cell types. tmeehan 2010-04-26T11:51:22Z cell owl:Class MONDO:0018206 biolink:NamedThing childhood-onset autosomal recessive myopathy with external ophthalmoplegia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:363677|OMIM:605637|ICD10:G71.2 owl:Class MONDO:0014668 biolink:NamedThing cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene. tmpaxzxjjyw_mondo_relaxed.owl fatal infantile encephalocardiomyopathy caused by mutation in COA6|COA6 fatal infantile encephalocardiomyopathy|cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4|CEMCOX4|cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4 Orphanet:1561|UMLS:C4225304|OMIM:616501|DOID:0080360 owl:Class MONDO:0009364 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death. tmpaxzxjjyw_mondo_relaxed.owl muscle-eye-brain-POMT1 related|hard syndrome|hydrocephalus, agyria, and retinal dysplasia|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1|cerebroocular dysplasia-muscular dystrophy syndrome|MDDGA1|Walker-Warburg syndrome or muscle-eye-brain disease, Pomt1-related|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1|cod-MD syndrome NCIT:C128118|UMLS:C4284790|UMLS:CN033898|DOID:0111237|OMIM:236670|Orphanet:899|Orphanet:588 owl:Class HGNC:11140 biolink:NamedThing SNCB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012543 biolink:NamedThing optic atrophy 5 tmpaxzxjjyw_mondo_relaxed.owl OPA5|optic atrophy 5 UMLS:C1853139|MESH:C537126|OMIM:610708|GARD:0010201|DOID:0111438|Orphanet:98673 owl:Class FOODON:00002645 biolink:NamedThing food product by process A food product organized by the process which it results from. tmpaxzxjjyw_mondo_relaxed.owl 2019-05-23 23:02:07+00:00 Damion Dooley owl:Class HGNC:14881 biolink:NamedThing ZEB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022912 biolink:NamedThing cutis verticis gyrata mental deficiency tmpaxzxjjyw_mondo_relaxed.owl GARD:0001644 https://rarediseases.info.nih.gov/diseases/1644/cutis-verticis-gyrata-mental-deficiency owl:Class GO:0044877 biolink:NamedThing protein-containing complex binding Binding to a macromolecular complex. tmpaxzxjjyw_mondo_relaxed.owl macromolecular complex binding|protein complex binding owl:Class MONDO:0011647 biolink:NamedThing Alzheimer disease 7 An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer disease 7|Ad7|AD7|Alzheimer disease, familial 7|Alzheimer disease type 7|Alzheimer's disease type 7|Alzheimer's disease 7|Alzheimer disease, familial, 7 MESH:C565251|Orphanet:1020|DOID:0110039|OMIM:606187|ICD10:G30|UMLS:C1853555 owl:Class MONDO:0044683 biolink:NamedThing limbic encephalitis with neurexin-3 antibodies tmpaxzxjjyw_mondo_relaxed.owl Orphanet:498700 owl:Class UBERON:0007147 biolink:NamedThing lumen of midgut tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010430 biolink:NamedThing intellectual disability, X-linked 97 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZNF711 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked 97|intellectual disability, X-linked 97|non-syndromic X-linked intellectual disability caused by mutation in ZNF711|ZNF711 non-syndromic X-linked intellectual disability|mental retardation, X-linked 65|intellectual disability, X-linked type 97|Mrxz|intellectual disability, X-linked 65|mental retardation, X-linked type 97|MRX97 MESH:C567583|UMLS:C2749020|OMIM:300803 owl:Class MONDO:0030044 biolink:NamedThing pseudo-TORCH syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl PSEUDO-TORCH SYNDROME 3|pseudo-torch syndrome 3|PTORCH3 OMIM:618886 owl:Class MONDO:0007040 biolink:NamedThing Sakati-Nyhan syndrome An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. tmpaxzxjjyw_mondo_relaxed.owl ACPS 3|ACPS3|acrocephalopolysyndactyly type 3|Sakati-Nyhan-Tisdale syndrome|ACPS with leg hypoplasia|Sakati syndrome|Sakati-Nyhan syndrome|acrocephalopolysyndactyly type III Orphanet:3128|DOID:0060359|SCTID:403768004|MESH:C537227|UMLS:C1275079|OMIM:101120|GARD:0000115|ICD10:Q87.0 owl:Class GO:0097529 biolink:NamedThing myeloid leukocyte migration The movement of a myeloid leukocyte within or between different tissues and organs of the body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023558 biolink:NamedThing Kocher-debre-Semelaigne syndrome tmpaxzxjjyw_mondo_relaxed.owl Kocher debre Semelaigne disease|association of muscular pseudohypertrophy and hypothyroidism in children GARD:0008270|MESH:C537211 https://rarediseases.info.nih.gov/diseases/8270/kocher-debre-semelaigne-syndrome owl:Class MONDO:0008367 biolink:NamedThing red cell phospholipid defect with hemolysis tmpaxzxjjyw_mondo_relaxed.owl phosphatidylcholine Red cell Membrane disorder|leaky Red cell syndrome|red cell phospholipid defect with hemolysis|high Red cell phosphatidylcholine hemolytic Anemia|HPCHA UMLS:C1867339|MESH:C535298|OMIM:179700|GARD:0010013 https://rarediseases.info.nih.gov/diseases/10013/red-cell-phospholipid-defect-with-hemolysis owl:Class MONDO:0019989 biolink:NamedThing pauci-immune glomerulonephritis without ANCA Pauci-immune glomerulonephritis (GN) without antineutrophilic cytoplasmic antibodies (ANCA) is a form of rapidly progressive glomerulonephritis comprising 10-43% of pauci-immune glomerulonephritis and characterized by the absence of ANCA. In comparison with pauci-immune GN with ANCA, patients lacking ANCA may be younger at onset of the disease and have a shorter interval from onset of the disease to diagnosis. They have fewer extra renal manifestations (e.g. involvement of lung, eye, ear, nose and throat), fewer constitutional symptoms (e.g. fever, weight loss, muscle pain and arthralgia) and a high prevalence of nephrotic syndrome and chronic renal lesions. Their prognosis is generally poorer. tmpaxzxjjyw_mondo_relaxed.owl antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis|pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody Orphanet:97564|ICD10:N05.7 owl:Class HGNC:5948 biolink:NamedThing IGSF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002885 biolink:NamedThing erythrasma A chronic bacterial infection of major folds of the skin, caused by Corynebacterium minutissimum. tmpaxzxjjyw_mondo_relaxed.owl infection due to Corynebacterium minutissimum ICD9:041.85|ICD10:L08.1|UMLS:C2364003|UMLS:C0014752|EFO:1000696|DOID:4131|SCTID:264207005|MESH:D004894 owl:Class HGNC:2494 biolink:NamedThing CTBP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003658 biolink:NamedThing B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma A group of lymphomas displaying molecular, morphologic, immunophenotypic, and clinical overlap between classical Hodgkin lymphoma and diffuse large B-cell lymphoma. This term particularly applies to mediastinal lymphomas with overlapping features of mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. tmpaxzxjjyw_mondo_relaxed.owl Gray zone lymphoma|Hodgkin-like anaplastic large cell lymphoma|B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma|large B-cell lymphoma with Hodgkin features|B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma ICDO:9596/3|UMLS:C1333878|GARD:0010897|NCIT:C37869|DOID:5822 https://rarediseases.info.nih.gov/diseases/10897/gray-zone-lymphoma owl:Class MONDO:0008446 biolink:NamedThing sperm protamine P4 tmpaxzxjjyw_mondo_relaxed.owl sperm protamine P4|PRM4 OMIM:182882 owl:Class MONDO:0010793 biolink:NamedThing nephropathy, chronic tubulointerstitial tmpaxzxjjyw_mondo_relaxed.owl nephropathy, chronic tubulointerstitial UMLS:C1838875|OMIM:551200|MESH:C564016 owl:Class MONDO:0007666 biolink:NamedThing glaucoma-sleep apnea syndrome Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). tmpaxzxjjyw_mondo_relaxed.owl glaucoma and sleep apnea|glaucoma sleep apnea GARD:0002483|OMIM:137763|UMLS:C1842025|Orphanet:2085|MESH:C564232 https://rarediseases.info.nih.gov/diseases/2483/glaucoma-sleep-apnea owl:Class MONDO:0011036 biolink:NamedThing porencephaly-cerebellar hypoplasia-internal malformations syndrome Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. tmpaxzxjjyw_mondo_relaxed.owl porencephaly, cerebellar hypoplasia, and internal malformations|Bonnemann-Meinecke syndrome|porencephaly cerebellar hypoplasia internal malformations|Bonnemann Meinecke syndrome GARD:0004437|OMIM:601322|UMLS:C1832472|Orphanet:2941|SCTID:763821001|ICD10:Q87.8|MESH:C536336 owl:Class MONDO:0010927 biolink:NamedThing orofacial cleft 3 tmpaxzxjjyw_mondo_relaxed.owl orofacial cleft 3|cleft lip with or without cleft palate, nonsyndromic, 3|OFC3 DOID:0080397|MESH:C563448|UMLS:C1833369|OMIM:600757|Orphanet:1991 owl:Class MONDO:0021762 biolink:NamedThing acrocoxomesomelic dysplasia A severe, dysmorphic condition is characterized by shortening of median and distal segments of the limbs without anomalies of the spine. tmpaxzxjjyw_mondo_relaxed.owl acro-coxo-mesomelic dwarfism GARD:0000483 https://rarediseases.info.nih.gov/diseases/483/acro-coxo-mesomelic-dysplasia owl:Class MONDO:0012315 biolink:NamedThing distal 10q deletion syndrome Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay. tmpaxzxjjyw_mondo_relaxed.owl chromosome 10q26 deletion syndrome|terminal chromosome 10Q26 deletion syndrome|distal deletion 10q|partial monosomy 10q|10q monosomy|distal monosomy 10q|terminal chromosome 10q26 deletion syndrome|telomeric deletion 10q|10q deletion|chromosome 10q deletion|monosomy 10qter|monosomy 10q|distal monosomy type 10q|deletion 10q OMIM:609625|MESH:C567182|GARD:0003711|DOID:0060390|UMLS:C4305277|SCTID:718687003|UMLS:C2674937|ICD10:Q93.5|Orphanet:96148 owl:Class MONDO:0060611 biolink:NamedThing combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia tmpaxzxjjyw_mondo_relaxed.owl combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia|CIMAH|methylenetetrahydrofolate dehydrogenase 1 deficiency OMIM:617780|UMLS:C4540434 owl:Class MONDO:0012776 biolink:NamedThing celiac disease, susceptibility to, 7 tmpaxzxjjyw_mondo_relaxed.owl gluten-sensitive enteropathy, susceptibility to, 7|celiac disease, susceptibility to, 7|CELIAC7 OMIM:612005 owl:Class MONDO:0006387 biolink:NamedThing primary pulmonary diffuse large B-cell lymphoma A diffuse large B-cell lymphoma that is localized to the lungs at the time of presentation. Signs and symptoms include cough, dyspnea, and hemoptysis. tmpaxzxjjyw_mondo_relaxed.owl pulmonary diffuse large B-cell lymphoma|primary pulmonary diffuse large B-cell lymphoma|diffuse large B-cell lymphoma of lung|high grade MALT lymphoma of the lung|lung diffuse large B-cell lymphoma NCIT:C45605|EFO:1000495|UMLS:C1709666 owl:Class MONDO:0017487 biolink:NamedThing radial hemimelia, bilateral tmpaxzxjjyw_mondo_relaxed.owl radial longitidinal meromelia, bilateral Orphanet:295071|ICD10:Q71.4 owl:Class MONDO:0019671 biolink:NamedThing radial hemimelia Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius. tmpaxzxjjyw_mondo_relaxed.owl congenital longitudinal deficiency of the radius|radial clubhand|radial ray agenesis|radial longitidinal meromelia GARD:0000225|SCTID:48008009|Orphanet:93321|ICD10:Q71.4|ICD9:755.59 owl:Class MONDO:0020846 biolink:NamedThing intellectual disability, autosomal recessive 64 tmpaxzxjjyw_mondo_relaxed.owl MRT64|MENTAL RETARDATION, autosomal recessive 64 OMIM:618103 owl:Class MONDO:0015711 biolink:NamedThing specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:169443|ICD10:D80.6 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: immunodeficiency predominantly affecting antibody production' MONDO_0015132 owl:Class MONDO:0015422 biolink:NamedThing orofaciodigital syndrome type 13 Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, and brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated. tmpaxzxjjyw_mondo_relaxed.owl oral facial digital syndrome type 13|oral-facial-digital syndrome XIII|orofaciodigital syndrome 13|OFDS 13|Degner syndrome|oral facial digital syndrome 13|orofaciodigital syndrome XIII|oral-facial-digital syndrome type 13|OFD13|OFD syndrome 13|oral-facial-digital syndrome 13 Orphanet:141330|ICD10:Q87.0|GARD:0010694|UMLS:C2932680|MESH:C548035|SCTID:763835004 owl:Class UBERON:0008987 biolink:NamedThing renal parenchyma tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004543 biolink:NamedThing enteric pattern testicular yolk sac tumor A yolk sac tumor that arises from the testis and is characterized by the presence of immature glands. tmpaxzxjjyw_mondo_relaxed.owl testicular yolk Sac tumor, enteric pattern UMLS:C1515304|NCIT:C39932|DOID:8362 owl:Class MONDO:0008821 biolink:NamedThing arthrogryposis, distal, with intellectual disability and characteristic facies tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis, distal, with mental retardation and characteristic facies|arthrogryposis, distal, with intellectual disability and characteristic facies MESH:C565940|OMIM:208081|UMLS:C1859723 owl:Class MONDO:0000669 biolink:NamedThing color agnosia An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060139 owl:Class GO:0043555 biolink:NamedThing regulation of translation in response to stress Modulation of the frequency, rate or extent of translation as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). tmpaxzxjjyw_mondo_relaxed.owl translational stress response owl:Class MONDO:0035357 biolink:NamedThing portosinusoidal vascular disease tmpaxzxjjyw_mondo_relaxed.owl PSVD ICD10:K76.8|Orphanet:596937 owl:Class UBERON:0016502 biolink:NamedThing stomach fundus lumen tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001811 biolink:NamedThing tetanic cataract A cataract resulting from hypocalcemia. tmpaxzxjjyw_mondo_relaxed.owl hypocalcaemic cataract DOID:13822|NCIT:C35068|UMLS:C0039613|SCTID:68216000|ICD9:366.42 owl:Class MONDO:0033653 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 18 tmpaxzxjjyw_mondo_relaxed.owl MC4DN18 OMIM:619062 owl:Class NCBITaxon:53549 biolink:NamedThing Sabethini tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:2482 biolink:NamedThing CSTB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008500 biolink:NamedThing striae distensae, familial tmpaxzxjjyw_mondo_relaxed.owl striae distensae, familial MESH:C566104|UMLS:C1861447|OMIM:185200 owl:Class HGNC:18305 biolink:NamedThing ATP6AP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:15804 biolink:NamedThing OVOL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009893 biolink:NamedThing polydactyly, postaxial, type A5 tmpaxzxjjyw_mondo_relaxed.owl polydactyly, postaxial, type A5|PAPA5 Orphanet:93334|UMLS:C3550661|OMIM:263450 owl:Class MONDO:0020417 biolink:NamedThing right aortic arch An anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided. tmpaxzxjjyw_mondo_relaxed.owl right aortic arch|right aortic arch (disease) right aortic arch (disease) ICD10:Q25.4|MedDRA:10067407|HP:0012020|SCTID:111321007|Orphanet:99081|NCIT:C103917 owl:Class MONDO:0023670 biolink:NamedThing Bardet-Biedl syndrome 20 tmpaxzxjjyw_mondo_relaxed.owl BBS20 OMIM:619471 owl:Class ENVO:01001334 biolink:NamedThing advective transport process A material transport process during which a volume of material is displaced due to a disequilibrium in physical forces and during which 1) the qualities that inhere in that volume and 2) the processes that are unfolding within it are largely unchanged. tmpaxzxjjyw_mondo_relaxed.owl advective transport owl:Class ENVO:01000304 biolink:NamedThing high pressure environment A high pressure environment is an environment in which all material entities are exposed to a high ratio of force per unit area. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009129 biolink:NamedThing dwarfism, proportionate, with hip dislocation tmpaxzxjjyw_mondo_relaxed.owl dwarfism, proportionate, with hip dislocation|dwarfism, proportionate with hip dislocation UMLS:C1857196|MESH:C565614|GARD:0010606|OMIM:223550 https://rarediseases.info.nih.gov/diseases/10606/dwarfism-proportionate-with-hip-dislocation owl:Class OBO:CHR_9606-chr10q22.3-q23.3 biolink:NamedThing 10q22.3-q23.3 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class MONDO:0002377 biolink:NamedThing breast intracanalicular fibroadenoma A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by distortion and compression of the ducts by proliferating stromal cells. tmpaxzxjjyw_mondo_relaxed.owl intracanalicular fibroadenoma of the breast|intracanalicular breast fibroadenoma|breast intracanalicular fibroadenoma|intracanalicular fibroadenoma|intracanalicular fibroadenoma of breast UMLS:C0334496|DOID:2656|ICDO:9011/0|NCIT:C4271 owl:Class MONDO:0008581 biolink:NamedThing malposition of teeth with or without hypodontia/oligodontia tmpaxzxjjyw_mondo_relaxed.owl ectopic eruption of teeth|malposition of teeth with or without hypodontia/oligodontia OMIM:189490 owl:Class HGNC:11566 biolink:NamedThing TAPBP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000874 biolink:NamedThing T-cell childhood lymphoblastic lymphoma A T lymphoblastic lymphoma that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl T lymphoblastic lymphoma|childhood T lymphoblastic lymphoma|childhood precursor T-lymphoblastic lymphoma DOID:0080148|NCIT:C7210|EFO:1001948|UMLS:C1332998 owl:Class UBERON:0004205 biolink:NamedThing inner medullary collecting duct tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14335 biolink:NamedThing PLEKHA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004050 biolink:NamedThing telangiectatic osteogenic sarcoma An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma. tmpaxzxjjyw_mondo_relaxed.owl telangiectatic osteosarcoma (morphologic abnormality)|telangiectatic osteosarcoma|malignant bone aneurysm|TEOS NCIT:C3902|DOID:6951|UMLS:C0259782|ICDO:9183/3|ONCOTREE:TEOS owl:Class HP:0012874 biolink:NamedThing Abnormal male reproductive system physiology An abnormal functionality of the male genital system. tmpaxzxjjyw_mondo_relaxed.owl Abnormal male genital system physiology UMLS:C4020716 hecht 2014-06-09T11:20:46Z human_phenotype owl:Class MONDO:0010053 biolink:NamedThing hereditary spherocytosis type 3 Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene. tmpaxzxjjyw_mondo_relaxed.owl SPTA1 hereditary spherocytosis|hereditary spherocytosis caused by mutation in SPTA1|HS3|hereditary spherocytosis 3|spherocytosis, type 3|spherocytosis, hereditary, 3|SPH3 OMIM:270970|MESH:C567489|Orphanet:822|UMLS:C2678338|DOID:0110918 owl:Class MONDO:0019494 biolink:NamedThing primary pediatric heart tumor Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. tmpaxzxjjyw_mondo_relaxed.owl pediatric heart neoplasm|heart tumor of child|Cardiac tumor of child ICD10:D15.1|UMLS:CN206281|ICD10:C38.0|Orphanet:875 owl:Class GO:0010888 biolink:NamedThing negative regulation of lipid storage Any process that decreases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008419 biolink:NamedThing scoliosis, isolated, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl adolescent idiopathic scoliosis|adolescent isolated scoliosis|scoliosis, isolated, susceptibility to, 1|IS1 OMIM:181800 owl:Class MONDO:0003152 biolink:NamedThing adult brainstem gliosarcoma tmpaxzxjjyw_mondo_relaxed.owl adult brainstem gliosarcoma|adult brain stem gliosarcoma DOID:4812|NCIT:C9370|UMLS:C1377914 owl:Class MONDO:0010764 biolink:NamedThing hearing loss, Y-linked 1 tmpaxzxjjyw_mondo_relaxed.owl deafness, Y-linked 1|DFNY1 DOID:0111759|UMLS:C3888076|OMIM:400043 owl:Class OBO:MFOMD_0000119 biolink:NamedThing dissociation A disruption in the usually integrated functions of consciousness, memory, identity, or perception of the environment. The disturbance may be sudden or gradual, transient or chronic. DSM-IV-TR (american Psychiatric Association) tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002002 biolink:NamedThing postsurgical hypothyroidism tmpaxzxjjyw_mondo_relaxed.owl post-surgical hypothyroidism|postoperative hypothyroidism SCTID:27059002|UMLS:C0154157|ICD9:244.0|DOID:1458|ICD10:E89.0 owl:Class UBERON:0006349 biolink:NamedThing epigastric artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009556 biolink:NamedThing malonic aciduria Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD). tmpaxzxjjyw_mondo_relaxed.owl malonyl-CoA decarboxylase deficiency|malonic aciduria|Malonicaciduria|malonic acidemia|MCD deficiency GARD:0003371|SCTID:361203007|OMIM:248360|ICD10:E72.8|Orphanet:943|UMLS:C0342793|MESH:C535702 owl:Class HGNC:12631 biolink:NamedThing USP8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:63673 biolink:NamedThing Turbo cornutus tmpaxzxjjyw_mondo_relaxed.owl Turbo (Taeniaturbo) cornutus|Turbo (Batillus) cornutus|Batillus cornutus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001510 biolink:NamedThing lateral displacement of eye tmpaxzxjjyw_mondo_relaxed.owl lateral displacement of globe UMLS:C0155272|DOID:12360|ICD9:376.36|ICD10:H05.21|SCTID:48747004 owl:Class MONDO:0002812 biolink:NamedThing infectious otitis interna Inflammation of the anatomical structures of the inner ear secondary to an infectious process. Symptoms include severe vertigo, nausea, vomiting, anxiety, and pain. Viral etiology is most common, and recent history of an upper respiratory infection is common. In rare cases an infection of the middle ear can spread to the inner ear, resulting in a bacterial or fungal etiology. tmpaxzxjjyw_mondo_relaxed.owl infectious labyrinthitis|inner ear infection|internal Ear infection|infectious otitis interna|inner Ear infection UMLS:C1168225|NCIT:C27339 owl:Class HGNC:28648 biolink:NamedThing DIS3L2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0041755 biolink:NamedThing twin reversal arterial perfusion syndrome tmpaxzxjjyw_mondo_relaxed.owl twin reversal arterial perfusion syndrome UMLS:C1562817|SCTID:417006004 owl:Class MONDO:0001078 biolink:NamedThing tropical sprue A rare disorder of the digestive tract characterized by malabsorption and anemia. It is likely caused by infection leading to small intestinal mucosal injury, bacterial overgrowth and inflammatory changes. It is most prevalent in residents and visitors to tropical and subtropical climates. Clinical signs include anorexia, abdominal bloating, diarrhea and weight loss. Clinical course may progress to deficiencies of folate, vitamin B12 and iron. Prognosis is favorable with nutrient replacement and antibiotic therapy, however relapses are common. tmpaxzxjjyw_mondo_relaxed.owl idiopathic tropical malabsorption syndrome|tropical enteropathy|post-infective tropical malabsorption|tropical steatorrhea|sprue - tropical NCIT:C45428|ICD10:K90.1|UMLS:C0038054|DOID:10607|ICD9:579.1|MESH:D013182|GARD:0007824|SCTID:47384003 https://rarediseases.info.nih.gov/diseases/7824/tropical-sprue owl:Class UBERON:0011862 biolink:NamedThing pulmonary collagen fibril tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011993 biolink:NamedThing aspirin resistance tmpaxzxjjyw_mondo_relaxed.owl aspirin, resistance to Cardioprotective Effect of|aspirin, resistance to Antithrombotic Effect of|aspirin resistance OMIM:608223 owl:Class MONDO:0009208 biolink:NamedThing faciothoracogenital syndrome tmpaxzxjjyw_mondo_relaxed.owl faciothoracogenital syndrome|facio thoraco genital syndrome|congenital anomalies, involving mainly the face, thorax, and genitalia UMLS:C2931184|GARD:0002228|MESH:C536387|OMIM:227320 owl:Class MONDO:0019035 biolink:NamedThing pancreatoblastoma Pancreatoblastoma is a rare malignant epithelial pancreatic neoplasm, most often found in children, which usually presents with the non-specific symptoms of a palpable mass, vomiting abdominal pain, jaundice, and weight loss/failure to thrive, and is characterized histologically by multiple lines of differentiation (acinar, ductal, mesenchymal, neuroendocrine) and the presence of squamoid nests. tmpaxzxjjyw_mondo_relaxed.owl pancreatoblastoma (morphologic abnormality)|PB Orphanet:677|NCIT:C4265|GARD:0004210|UMLS:C0334489|EFO:1000446|ONCOTREE:PB|DOID:6823|ICD10:C25.1|MESH:C537162 https://rarediseases.info.nih.gov/diseases/4210/pancreatoblastoma owl:Class MONDO:0008637 biolink:NamedThing bifid uvula Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate. tmpaxzxjjyw_mondo_relaxed.owl bifidity of the uvula|uvula, cleft|uvula, bifid|uvular cleft Orphanet:99771|ICD10:Q35.7|OMIM:192100|SCTID:18910001 owl:Class BFO:0000034 biolink:NamedThing function tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0003943 biolink:NamedThing N-acetylgalactosamine-4-sulfatase activity Catalysis of the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate. tmpaxzxjjyw_mondo_relaxed.owl N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase activity|arylsulfatase B|acetylgalactosamine 4-sulfatase activity|N-acetylgalactosamine-4-sulphatase activity|chondroitinsulfatase|N-acetylgalactosamine 4-sulfate sulfohydrolase activity owl:Class MONDO:0007202 biolink:NamedThing blepharoptosis-myopia-ectopia lentis syndrome This syndrome is characterised by bilateral congenital blepharoptosis, ectopia lentis and high myopia. tmpaxzxjjyw_mondo_relaxed.owl dominantly inherited blepharoptosis, high myopia, and ectopia lentis|blepharoptosis myopia ectopia lentis|blepharoptosis, myopia, and ectopia lentis GARD:0000912|MESH:C536236|OMIM:110150|ICD10:Q15.8|Orphanet:1259|SCTID:717915004|UMLS:C1862259 owl:Class MONDO:0008431 biolink:NamedThing slipped femoral capital epiphyses A developmental deformity in which the metaphysis of the femur moves proximally and anteriorly away from femur head (epiphysis) at the upper growth plate. It is most common in male adolescents and is associated with a greater risk of early osteoarthritis of the hip. tmpaxzxjjyw_mondo_relaxed.owl slipped femoral capital epiphyses|epiphysiolysis capitis femoris UMLS:C0149887|MESH:D060048|OMIM:182260 owl:Class MONDO:0004094 biolink:NamedThing multiple skull base meningioma Multiple meningiomas that affect the skull base. tmpaxzxjjyw_mondo_relaxed.owl multiple skull base meningiomas UMLS:C1334829|DOID:7054|NCIT:C5279 owl:Class MONDO:0013260 biolink:NamedThing esophagitis, eosinophilic, 2 tmpaxzxjjyw_mondo_relaxed.owl EOE2|esophagitis, eosinophilic, 2 OMIM:613412|Orphanet:73247|UMLS:C3150679 owl:Class MONDO:0013357 biolink:NamedThing chromosome 17q11.2 deletion syndrome, 1.4Mb 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. tmpaxzxjjyw_mondo_relaxed.owl NF1 microdeletion syndrome|neurofibromatosis 1 microdeletion syndrome|NF1 microduplication syndrome|monosomy 17q11|chromosome 17q11.2 deletion syndrome, 1.4-MB|Van Asperen syndrome|neurofibromatosis type 1 microdeletion syndrome|chromosome 17q11.2 deletion syndrome|Del(17)(q11)|17q11 microdeletion syndrome DOID:0060403|Orphanet:97685|OMIM:613675|MESH:C563524|Orphanet:139474|ICD10:Q85.0|GARD:0005408|Orphanet:636 owl:Class NCBITaxon:1502 biolink:NamedThing Clostridium perfringens tmpaxzxjjyw_mondo_relaxed.owl Bacterium welchii|'Clostridium plagarum'|Clostridium plagarum|Bacillus perfringens PMID:1374625|GC_ID:11|PMID:184898 NCBITaxon:1683536 ncbi_taxonomy owl:Class MONDO:0017712 biolink:NamedThing combined pancreatic lipase-colipase deficiency "Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport characterized by steatorrhea with foul-smelling stools from birth, diminished serum carotene and vitamin E and a combined deficiency of the pancreatic enzymes lipase and colipase. Patients are otherwise healthy and develop normally with no apparent pancreatic disease. There have been no further descriptions in the literature since 1990. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:309111|OMIM:614338|ICD10:K90.3 owl:Class HGNC:17035 biolink:NamedThing EXOSC8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100390 biolink:NamedThing acute myeloid leukemia, der12p Any acute myeloid leukemia that has the chromosomal anomaly der12p. (A cytogenetic abnormality involving the rearrangement of two or more other chromosomes with the short arm of chromosome 12 (12p).) tmpaxzxjjyw_mondo_relaxed.owl AML, der(12p)|AML, der12p NCIT:C173542 owl:Class MONDO:0030864 biolink:NamedThing Ritscher-Schinzel syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl RTSC3|Ritscher-Schinzel syndrome 3 OMIM:619135 owl:Class MONDO:0013086 biolink:NamedThing neuroblastoma, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl NBLST6|neuroblastoma, susceptibility to, 6 Orphanet:635|OMIM:613017 owl:Class MONDO:0005238 biolink:NamedThing round cell liposarcoma A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma. tmpaxzxjjyw_mondo_relaxed.owl cellular myxoid liposarcoma|round cell liposarcoma (morphologic abnormality)|round cell liposarcoma SCTID:404070007|EFO:0003084|DOID:5692|ICDO:8853/3|ICD9:171.9|UMLS:C0334471|NCIT:C4252 owl:Class NCBITaxon:11244 biolink:NamedThing Pneumoviridae tmpaxzxjjyw_mondo_relaxed.owl Pneumovirinae GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012175 biolink:NamedThing cataract 28 A cataract that has material basis in variation in the region 6p12-q12. tmpaxzxjjyw_mondo_relaxed.owl CTRCT28|ARCC1|cataract, age-related cortical, 1|age-related cortical cataract 1|cataract type 28|cataract 28 UMLS:C1836942|MESH:C563812|DOID:0110244|OMIM:609026 owl:Class MONDO:0060591 biolink:NamedThing immunodeficiency, developmental delay, and hypohomocysteinemia tmpaxzxjjyw_mondo_relaxed.owl IMDDHH|immunodeficiency, developmental delay, and hypohomocysteinemia UMLS:C4540293|OMIM:617744 owl:Class MONDO:0017648 biolink:NamedThing Sydenham chorea A neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures. tmpaxzxjjyw_mondo_relaxed.owl ICD10:I02.9|Orphanet:306731|GARD:0007716|MedDRA:10042732|ICD10:I02.0 owl:Class MONDO:0006086 biolink:NamedThing angiomyxoma A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma. tmpaxzxjjyw_mondo_relaxed.owl ICD9:215.9|UMLS:C0027149|ICDO:8841/0|SCTID:404083008|ICDO:8841/1|NCIT:C3254|MESH:D009232|EFO:1000087 owl:Class CHEBI:39472 biolink:NamedThing 1,3,4-thiadiazole tmpaxzxjjyw_mondo_relaxed.owl 1,3,4-thiadiazole owl:Class HP:0000027 biolink:NamedThing Azoospermia Absence of any measurable level of sperm in his semen. tmpaxzxjjyw_mondo_relaxed.owl Absent sperm in semen MSH:D053713|UMLS:C0004509|SNOMEDCT_US:48188009|SNOMEDCT_US:425558002 human_phenotype owl:Class FOODON:03430150 biolink:NamedThing whole, natural shape tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012575 biolink:NamedThing branchiootorenal syndrome 2 Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene. tmpaxzxjjyw_mondo_relaxed.owl BOR2|branchiootorenal syndrome 2|branchiootorenal syndrome type 2|SIX5 branchio-oto-renal syndrome|branchio-oto-renal syndrome caused by mutation in SIX5 DOID:0111424|Orphanet:107|UMLS:C1970479|OMIM:610896 owl:Class MONDO:0032890 biolink:NamedThing neuromuscular disease and ocular or auditory anomalies with or without seizures tmpaxzxjjyw_mondo_relaxed.owl NEUROMUSCULAR DISEASE AND OCULAR OR AUDITORY ANOMALIES WITH OR WITHOUT SEIZURES|NMOAS OMIM:618733 owl:Class MONDO:0001773 biolink:NamedThing post-vaccinal encephalitis An acute or subacute inflammatory process of the central nervous system characterized histologically by multiple foci of perivascular demyelination. Symptom onset usually occurs several days after an acute viral infection or immunization, but it may coincide with the onset of infection or rarely no antecedent event can be identified. Clinical manifestations include confusion, somnolence, fever, nuchal rigidity, and involuntary movements. The illness may progress to coma and eventually be fatal. (Adams et al., Principles of Neurology, 6th ed, p921) tmpaxzxjjyw_mondo_relaxed.owl encephalitis following immunization procedures|postvaccinal encephalomyelitis ICD10:G04.02|ICD9:323.51|SCTID:31367003|DOID:13664|UMLS:C0751101 owl:Class GO:0000323 biolink:NamedThing lytic vacuole A vacuole that is maintained at an acidic pH and which contains degradative enzymes, including a wide variety of acid hydrolases. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007876 biolink:NamedThing laryngeal abductor paralysis tmpaxzxjjyw_mondo_relaxed.owl laryngeal abductor paralysis|vocal cord dysfunction, familial|familial vocal cord dysfunction|vocal cord dysfunction familial|Gerhardt syndrome|Labd OMIM:150260|ICD9:748.3|SCTID:232442001|GARD:0005509|UMLS:CN202762|Orphanet:2808|ICD10:J38.0 Autosomal dominant based on information from Joanna. owl:Class OBO:CHR_9606-chr3p2 biolink:NamedThing 3p2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 54400000 0 hg38 owl:Class NCBITaxon:2157 biolink:NamedThing Archaea tmpaxzxjjyw_mondo_relaxed.owl Archaebacteria|Prokaryotae|prokaryote|Monera|prokaryotes|Mendosicutes|Metabacteria|Prokaryota|Procaryotae|archaea PMID:11542149|PMID:9336922|GC_ID:11|PMID:11211268|PMID:10490293|PMID:11321083|PMID:8590690|PMID:10425797|PMID:25527841|PMID:10939651|PMID:9103655|PMID:8123559|PMID:11541975|PMID:10425796|PMID:11760965|PMID:11540071|PMID:12054223|PMID:11411719|PMID:10843050|PMID:11542064|PMID:10425795|PMID:11321113|PMID:10939677|PMID:10939673|PMID:270744|PMID:2112744 ncbi_taxonomy owl:Class MONDO:0015399 biolink:NamedThing glossopalatine ankylosis Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. tmpaxzxjjyw_mondo_relaxed.owl Cosack syndrome UMLS:CN199497|Orphanet:141163|UMLS:C4303569|ICD10:Q38.3|SCTID:717814004 owl:Class HGNC:18810 biolink:NamedThing CATSPER2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006531 biolink:NamedThing cholesteatoma of attic A cholesteatoma in the attic tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155489|ICD10:H71.00|EFO:1000676|ICD9:385.31|ICD10:H71.0|DOID:10963|SCTID:38708003 owl:Class MONDO:0013148 biolink:NamedThing Brugada syndrome 8 Any Brugada syndrome in which the cause of the disease is a mutation in the HCN4 gene. tmpaxzxjjyw_mondo_relaxed.owl BRGDA8|Brugada syndrome 8|HCN4 Brugada syndrome|Brugada syndrome caused by mutation in HCN4|Brugada syndrome type 8 MESH:C567732|ICD10:I49.8|Orphanet:130|UMLS:C2751083|OMIM:613123|DOID:0110225 owl:Class MONDO:0025293 biolink:NamedThing poult enteritis mortality syndrome An acute, transmissible, infectious disease associated with high mortality and morbidity in young turkeys (poults). It is characterized by diarrhea; anorexia; growth depression, and immune dysfunction. The cause is unknown but astroviruses (avastrovirus) and coronaviruses (coronavirus, turkey) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections. tmpaxzxjjyw_mondo_relaxed.owl mortality syndrome, spiking|spiking mortality syndrome UMLS:C1135821|MESH:D031261 owl:Class MONDO:0025113 biolink:NamedThing poultry disease Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from bird diseases which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild. tmpaxzxjjyw_mondo_relaxed.owl disease, poultry|diseases, poultry|poultry disease MESH:D011201|UMLS:C0032851 owl:Class MONDO:0032583 biolink:NamedThing microcephaly 24, primary, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl MCPH24|MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE OMIM:618179 owl:Class MONDO:0044037 biolink:NamedThing livedo reticularis A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming. tmpaxzxjjyw_mondo_relaxed.owl livedo racemosa|livedo reticularis UMLS:C0085642|MESH:D054068|SCTID:238772004 owl:Class MONDO:0009702 biolink:NamedThing myopathy due to malate-aspartate shuttle defect tmpaxzxjjyw_mondo_relaxed.owl myopathy due to malate-aspartate shuttle defect OMIM:254960|MESH:C564973|UMLS:C1850744 owl:Class MONDO:0003505 biolink:NamedThing femoral cancer A cancer involving a femur. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of femur|femur cancer|femoral neoplasm|cancer of femur|malignant femur neoplasm|neoplasm of femur EFO:0007270|MESH:D005266|SCTID:126583006|DOID:5546 owl:Class MONDO:0016528 biolink:NamedThing limb body wall complex Limb body wall complex (LBWC) is characterized by severe multiple congenital anomalies in the fetus with exencephaly/encephalocele, thoraco- and/or abdominoschisis (anterior body wall defects) and limb defects, with or without facial clefts. tmpaxzxjjyw_mondo_relaxed.owl short umbilical cord syndrome|limb-body wall complex|aplasia of the cord|Cyllosomas|body stalk anomaly|LBWC syndrome|umbilical cord, short UMLS:CN201594|GARD:0003251|SCTID:716106000|Orphanet:2369|ICD10:Q87.8|UMLS:C4274839 https://rarediseases.info.nih.gov/diseases/3251/limb-body-wall-complex owl:Class MONDO:0002469 biolink:NamedThing lacrimal gland carcinoma ex pleomorphic adenoma A carcinoma arising in a pre-existing pleomorphic adenoma in the lacrimal gland. tmpaxzxjjyw_mondo_relaxed.owl malignant mixed tumor of the lacrimal gland|lacrimal gland carcinoma ex pleomorphic adenoma|carcinoma ex pleomorphic adenoma of lacrimal gland|malignant mixed tumor of lacrimal gland|lacrimal gland malignant mixed neoplasm|carcinoma ex pleomorphic adenoma of the lacrimal gland|malignant mixed neoplasm of the lacrimal gland|mixed lacrimal gland cancer|carcinoma Ex pleomorphic adenoma of the lacrimal gland|lacrimal gland malignant mixed tumor|malignant mixed neoplasm of lacrimal gland SCTID:254989000|UMLS:C0346342|DOID:296|NCIT:C6804 MONDO:0021278 owl:Class SO:0000110 biolink:NamedThing sequence_feature Any extent of continuous biological sequence. tmpaxzxjjyw_mondo_relaxed.owl sequence feature|located sequence feature|located_sequence_feature|INSDC_note:other|INSDC_note:sequence_feature|INSDC_feature:misc_feature owl:Class HGNC:4516 biolink:NamedThing ADGRG2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003894 biolink:NamedThing mediastinal melanocytic neurilemmoma A melanotic schwannoma that affects the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl melanocytic neurilemmoma of mediastinum|melanocytic schwannoma of mediastinum|melanocytic schwannoma of the mediastinum|mediastinal melanocytic schwannoma|mediastinal melanotic schwannoma|melanocytic neurilemmoma of the mediastinum UMLS:C1334668|DOID:6484|NCIT:C6635 owl:Class MONDO:0000474 biolink:NamedThing pericardium disorder A disease involving the pericardium. tmpaxzxjjyw_mondo_relaxed.owl pericardium disease or disorder|disease of pericardium|disease or disorder of pericardium|pericardium disease|disorder of pericardium SCTID:55855009|UMLS:C0265122|ICD9:423.9|DOID:0050829|ICD9:423.8 owl:Class UBERON:0001361 biolink:NamedThing femoral vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004824 biolink:NamedThing neonatal candidiasis A fungal infection by any of the Candida species in a newborn infant up to 28 days old. tmpaxzxjjyw_mondo_relaxed.owl neonatal Candida infection|neonatal candida infection|neonatal moniliasis|neonatal Monilia infection UMLS:C0276682|ICD10:P37.5|DOID:9577|ICD9:771.7|NCIT:C116810|SCTID:414821002 owl:Class MONDO:0012042 biolink:NamedThing hirschsprung disease, susceptibility to, 8 tmpaxzxjjyw_mondo_relaxed.owl Hirschsprung disease, susceptibility to, 8|HSCR8 Orphanet:388|OMIM:608462 owl:Class MONDO:0004083 biolink:NamedThing Borst-Jadassohn intraepidermal carcinoma A rare cutaneous lesion presenting as a scaly verrucous plaque. Morphologically, the plaque contains nests of basaloid cells. tmpaxzxjjyw_mondo_relaxed.owl Bowen's disease, clonal|intraepidermal epithelioma of Jadassohn NCIT:C4110|DOID:7039|UMLS:C2937231|SCTID:403886007|ICDO:8096/0|UMLS:C0334260|EFO:1001841 owl:Class HGNC:6284 biolink:NamedThing KCNMA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017144 biolink:NamedThing alpha-thalassemia and related diseases tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202570|Orphanet:275745|ICD10:D56.0 owl:Class MONDO:0011243 biolink:NamedThing grange syndrome Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases. tmpaxzxjjyw_mondo_relaxed.owl grange syndrome|arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|GRNG|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome|grange occlusive arterial syndrome UMLS:C1865267|Orphanet:79094|ICD10:Q87.8|MESH:C566529|OMIM:602531|SCTID:717824007 owl:Class CL:0002195 biolink:NamedThing hepatic stem cell A stem cell that can give rise to the cells of the liver. tmpaxzxjjyw_mondo_relaxed.owl FMA:86577 tmeehan 2010-08-30T02:00:42Z cell owl:Class HGNC:10618 biolink:NamedThing CCL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001736 biolink:NamedThing neonatal infective mastitis tmpaxzxjjyw_mondo_relaxed.owl ICD9:771.5|ICD10:P39.0|SCTID:3468005|UMLS:C0158948|DOID:13520 owl:Class MONDO:0032667 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl EV5|EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5 OMIM:618309 owl:Class MONDO:0019727 biolink:NamedThing mixed cryoglobulinemia type III Type III mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins containing both polyclonal IgGs and polyclonal IgMs. tmpaxzxjjyw_mondo_relaxed.owl MC type III Orphanet:93555|UMLS:CN206634|ICD10:D89.1 owl:Class MONDO:0007407 biolink:NamedThing Cryoglobulinemic vasculitis Mixed cryoglobulinemia (MC) is a rare multisystem disease characterized by the presence of circulating cryoprecipitable immune complexes in the serum, manifested clinically by a classical triad of purpura, weakness and arthralgia. tmpaxzxjjyw_mondo_relaxed.owl MC|Meltzer syndrome|primary cryoglobulinemia|essential cryoglobulinemia|essential mixed cryoglobulinemia|familial mixed cryoglobulinemia|cryoglobulinemia, familial mixed|mixed cryoglobulinemia MedDRA:10027756|Orphanet:91138|ICD9:273.2|OMIM:123550|UMLS:C0340992|ICD10:D89.1|UMLS:C0343208|MESH:C565141|SCTID:190815001|UMLS:C1852456|UMLS:C0272258|GARD:0006386 owl:Class MONDO:0017488 biolink:NamedThing ulnar hemimelia, bilateral tmpaxzxjjyw_mondo_relaxed.owl ulnar longitudinal meromelia, bilateral Orphanet:295073|ICD10:Q71.5 owl:Class MONDO:0023757 biolink:NamedThing meralgia paresthetica Meralgia paresthetica is a condition characterized by tingling, numbness and burning pain in the outer thigh. These symptoms may become worse after walking or standing. The condition generally only affects one side of the body, although both sides may be involved in up to 20% of cases. Meralgia paresthetica is caused by compression of the lateral femoral cutaneous nerve (a sensory nerve to the skin on the outer thigh). This may be associated with a variety of causes such as tight clothing, obesity, and/or pregnancy. Treatment is based on the signs and symptoms present in each person and may include medications to manage pain. In most cases, conservative treatment by wearing looser clothing and/or losing weight generally resolves symptoms. tmpaxzxjjyw_mondo_relaxed.owl meralgia paraesthetica familial (type)|lateral femoral cutaneous nerve entrapment|compression of lateral cutaneous femoral nerve of thigh|lateral cutaneous femoral nerve of thigh syndrome|Bernhardt-Roth syndrome|bernhardt's paresthesia|bernhardt-rot syndrome|entrapment of lateral cutaneous nerve of thigh MESH:C537458|ICD9:355.1|UMLS:C0152110|OMIM:156220|GARD:0009417|SCTID:85007004 https://rarediseases.info.nih.gov/diseases/9417/meralgia-paresthetica owl:Class MONDO:0003615 biolink:NamedThing nerve compression syndrome Any nerve disorder caused by the entrapment and compression of a nerve. tmpaxzxjjyw_mondo_relaxed.owl compression neuropathy|peripheral nerve entrapment syndrome|entrapment neuropathy DOID:573|NCIT:C27221|SCTID:45781009|MESH:D009408 owl:Class NCBITaxon:3760 biolink:NamedThing Prunus persica tmpaxzxjjyw_mondo_relaxed.owl peach|Amygdalus persica|Persica vulgaris GC_ID:1 NCBITaxon:203801 ncbi_taxonomy owl:Class MONDO:0004101 biolink:NamedThing multicentric papillary thyroid carcinoma A papillary carcinoma arising from the thyroid gland from multiple foci. tmpaxzxjjyw_mondo_relaxed.owl multicentric thyroid gland papillary carcinoma|multicentric papillary thyroid carcinoma|multicentric papillary thyroid gland carcinoma UMLS:C1334817|DOID:7086|NCIT:C37304 owl:Class MPATH:0 biolink:NamedThing pathological entity Pathological structure or process tmpaxzxjjyw_mondo_relaxed.owl owl:Class MPATH:1000 biolink:NamedThing pathological phenotype observation Phenotypic observation of the presence or absence of a pathological entity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011656 biolink:NamedThing paget disease of bone 4 tmpaxzxjjyw_mondo_relaxed.owl PDB4|Paget disease of bone 4 OMIM:606263|MESH:C565240|UMLS:C1853473 owl:Class MONDO:0011825 biolink:NamedThing streptococcus, group A, severity of infection by tmpaxzxjjyw_mondo_relaxed.owl streptococcus, group A, severity of infection by OMIM:607395 owl:Class NCBITaxon:37727 biolink:NamedThing Talaromyces marneffei tmpaxzxjjyw_mondo_relaxed.owl Penicillium marneffei GC_ID:1 ncbi_taxonomy owl:Class HGNC:16808 biolink:NamedThing UBR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019877 biolink:NamedThing distal trisomy 2q Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed. tmpaxzxjjyw_mondo_relaxed.owl telomeric duplication 2q|trisomy 2qter|distal duplication 2q|distal trisomy type 2q Orphanet:96094|ICD10:Q92.3|SCTID:763272003 owl:Class MONDO:0011370 biolink:NamedThing Stargardt disease 4 Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene. tmpaxzxjjyw_mondo_relaxed.owl Stargardt disease 4|PROM1 Stargardt disease|Stargardt disease type 4|Stargardt disease caused by mutation in PROM1|STGD4 Orphanet:827|MESH:C535521|UMLS:C1863534|OMIM:603786 owl:Class MONDO:0023079 biolink:NamedThing epidermal nevus vitamin D resistant rickets tmpaxzxjjyw_mondo_relaxed.owl GARD:0002136 https://rarediseases.info.nih.gov/diseases/2136/epidermal-nevus-vitamin-d-resistant-rickets owl:Class MONDO:0033014 biolink:NamedThing erythrokeratodermia variabilis et progressiva 4 tmpaxzxjjyw_mondo_relaxed.owl erythrokeratodermia variabilis ET progressiva 4|EKVP4|erythrokeratodermia variabilis et progressiva 4 UMLS:C4479620|OMIM:617526|DOID:0080250|Orphanet:317 owl:Class MONDO:0009754 biolink:NamedThing neutropenia, lethal congenital, with eosinophilia tmpaxzxjjyw_mondo_relaxed.owl neutropenia lethal congenital with eosinophilia|lethal congenital neutropenia with eosinophilia|neutropenia, lethal congenital, with eosinophilia UMLS:C1850381|GARD:0006107|MESH:C564943|OMIM:257100|Orphanet:486 https://rarediseases.info.nih.gov/diseases/6107/neutropenia-lethal-congenital-with-eosinophilia owl:Class MONDO:0007584 biolink:NamedThing exostoses-anetodermia-brachydactyly type E syndrome Exostoses-anetodermia-brachydactyly type E syndrome is an association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. tmpaxzxjjyw_mondo_relaxed.owl exostoses with anetodermia and brachydactyly, type E UMLS:C1851428|Orphanet:1962|OMIM:133690|MESH:C565034|ICD10:Q87.5 owl:Class CL:1000391 biolink:NamedThing melanocyte of eyelid A melanocyte that is part of the eyelid. tmpaxzxjjyw_mondo_relaxed.owl eyelid melanocyte|sebaceous gland of wolff FMA:59175 cell owl:Class MONDO:0005852 biolink:NamedThing mitral valve stenosis Narrowing of the left atrioventricular mitral orifice. tmpaxzxjjyw_mondo_relaxed.owl mitral valve stenoses|stenoses, mitral|valve stenosis, mitral|mitral stenosis|valve stenoses, mitral|stenosis, mitral valve|mitral stenoses|stenosis, mitral|stenoses, mitral valve SCTID:79619009|NCIT:C50654|UMLS:C0026269|MESH:D008946|DOID:1754|EFO:0007372 owl:Class MONDO:0032748 biolink:NamedThing spermatogenic failure 38 tmpaxzxjjyw_mondo_relaxed.owl SPERMATOGENIC FAILURE 38|SPGF38 OMIM:618433 owl:Class NCBITaxon:12092 biolink:NamedThing Hepatovirus A tmpaxzxjjyw_mondo_relaxed.owl HAV|Hepatitis A virus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0025135 biolink:NamedThing tuberculosis, avian A variety of tuberculosis affecting various birds, including chickens and ducks. It is caused by mycobacterium avium and characterized by tubercles consisting principally of epithelioid cells. tmpaxzxjjyw_mondo_relaxed.owl Avian tuberculosis|Tuberculoses, Avian|Avian Tuberculoses EFO:1001440|UMLS:C0041306|MESH:D014379 owl:Class MONDO:0011498 biolink:NamedThing schizophrenia 9 A schizophrenia that has material basis in a mutation of DISC1 on chromosome 1q42.2. tmpaxzxjjyw_mondo_relaxed.owl SCZD9|schizophrenia 9 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 1Q42-related|schizophrenia 9|schizophrenia type 9 OMIM:604906|UMLS:C1858050|DOID:0070085 owl:Class MONDO:0018832 biolink:NamedThing HTRA1-related autosomal dominant cerebral small vessel disease tmpaxzxjjyw_mondo_relaxed.owl HTRA1-related autosomal dominant cerebral angiopathy UMLS:CN776823|Orphanet:482077 owl:Class UBERON:0036553 biolink:NamedThing wall of synovial tendon sheath tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010536 biolink:NamedThing tubulin, beta tmpaxzxjjyw_mondo_relaxed.owl tubulin, beta OMIM:301850 owl:Class MONDO:0018183 biolink:NamedThing staphylococcal necrotizing pneumonia Staphylococcal necrotizing pneumonia is a rare, bacterial, pulmonary infectious disease, caused by a Panton-Valentine leukocidin-producing Staphylococcus aureus strain, characterized by severe respiratory failure, extensive, rapidly progressing pneumonia and hemorrhagic lung necrosis. Patients typically present with influenza-like symptoms, such as fever, cough, and chest pain, as well as hemoptysis, hypotension, leukopenia, and severe respiratory symptoms that rapidly evolve to acute respiratory distress syndrome and septic shock. High mortality is associated. tmpaxzxjjyw_mondo_relaxed.owl ICD10:J15.2|SCTID:763888005|Orphanet:36238 owl:Class UBERON:0013632 biolink:NamedThing sesamoid cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7526 biolink:NamedThing MMUT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010381 biolink:NamedThing Tn polyagglutination syndrome tmpaxzxjjyw_mondo_relaxed.owl TNPS|Tn polyagglutination syndrome|galactosyltransferase deficiency OMIM:300622|MESH:C562719|UMLS:C0272137|DOID:0080520 owl:Class MONDO:0045069 biolink:NamedThing minor salivary gland carcinoma A carcinoma that arises from the minor salivary glands. Representative examples include adenoid cystic carcinoma, acinic cell carcinoma, polymorphous low grade adenocarcinoma, and mucinous adenocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl carcinoma of the minor salivary gland|carcinoma of minor salivary gland|minor salivary gland cancer|minor salivary gland carcinoma NCIT:C5957|UMLS:C1334771 owl:Class MONDO:0016598 biolink:NamedThing autosomal recessive secondary polycythemia not associated with VHL gene tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive secondary erythrocytosis, non-Chuvash type|autosomal recessive secondary polycythemia, non-Chuvash type|autosomal recessive secondary erythrocytosis not associated with VHL gene Orphanet:247378|UMLS:CN226972|ICD10:D75.1 owl:Class HP:0001879 biolink:NamedThing Abnormal eosinophil morphology An abnormal count or structure of eosinophils. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of eosinophils UMLS:C4025738 Eosinophils stain with acidophilic dyes including eosin red. They have a bilobed nucleus, are weakly phagocytic, and are involved in the immune defense against worms. Eosinophils are released into the peripheral blood in a phenotypically mature state, and are capable of undergoing activation and recruitment into tissues in response to appropriate stimuli, most notably cytokines interleukin-5 and the eotaxins. Eosinophils spend only a brief time in the peripheral blood (half-life of about 18 hours) before they migrate to the thymus or gastrointestinal tract, where they reside under homeostatic conditions. In response to inflammatory stimuli, eosinophils develop from committed bone marrow progenitors, after which they exit, migrate into the blood and subsequently accumulate in peripheral tissues where survival is prolonged. human_phenotype owl:Class MONDO:0010265 biolink:NamedThing Simpson-Golabi-Behmel syndrome type 2 Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported. tmpaxzxjjyw_mondo_relaxed.owl Sgbs2|Simpson-Golabi-Behmel syndrome caused by mutation in OFD1|Simpson-Golabi-Behmel syndrome, type 2|lethal variant of Simpson-Golabi-Behmel syndrome|SGBS2|OFD1 Simpson-Golabi-Behmel syndrome Orphanet:79022|ICD10:Q87.3|DOID:0080342|OMIM:300209|UMLS:C1846175|MESH:C564567 owl:Class MONDO:0032873 biolink:NamedThing retinitis pigmentosa 87 with choroidal involvement tmpaxzxjjyw_mondo_relaxed.owl RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT|RP87 OMIM:618697 owl:Class MONDO:0026722 biolink:NamedThing Mullegama-Klein-Martinez syndrome tmpaxzxjjyw_mondo_relaxed.owl Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities|MULLEGAMA-KLEIN-MARTINEZ SYNDROME|MKMS OMIM:301022 owl:Class MONDO:0009601 biolink:NamedThing metaphyseal dysplasia without hypotrichosis tmpaxzxjjyw_mondo_relaxed.owl CHHV|cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency|MDWH|cartilage-hair hypoplasia variant, skeletal manifestations only|metaphyseal dysplasia without hypotrichosis OMIM:250460|Orphanet:1838|GARD:0010622|MESH:C563574|UMLS:C1834821 https://rarediseases.info.nih.gov/diseases/10622/metaphyseal-dysplasia-without-hypotrichosis owl:Class ENVO:01001284 biolink:NamedThing barium dust Dust which is primarily composed of barium particles. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012755 biolink:NamedThing episodic ataxia type 7 Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings. tmpaxzxjjyw_mondo_relaxed.owl episodic ataxia, type 7|EA7 MESH:C567459|DOID:0050995|OMIM:611907|Orphanet:209970|ICD10:G11.8|UMLS:C2677843|SCTID:718752007 owl:Class MONDO:0014059 biolink:NamedThing microphthalmia, isolated, with coloboma 9 Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the TENM3 gene. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia, isolated, with coloboma caused by mutation in TENM3|MCOPCB9|TENM3 microphthalmia, isolated, with coloboma|microphthalmia, isolated, with coloboma type 9|microphthalmia, isolated, with coloboma 9 UMLS:C3554592|OMIM:615145|Orphanet:98938 owl:Class HGNC:2394 biolink:NamedThing CRYBA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000095 biolink:NamedThing cord blood hematopoietic stem cell Any hematopoietic stem cell that is part of a umbilical cord blood. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2015-05-26T18:58:34Z cell owl:Class MONDO:0016464 biolink:NamedThing insulin-resistance syndrome type B Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome) and occurs in the context of immune dysfunction. tmpaxzxjjyw_mondo_relaxed.owl insulin-resistance type B ICD10:E13|GARD:0003009|UMLS:C0342337|Orphanet:2298 https://rarediseases.info.nih.gov/diseases/3009/insulin-resistance-type-b owl:Class MONDO:0011838 biolink:NamedThing Bothnia retinal dystrophy A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted. tmpaxzxjjyw_mondo_relaxed.owl Vasterbotten dystrophy|VC$sterbotten dystrophy|Västerbotten dystrophy|Bothnia retinal dystrophy Orphanet:85128|MESH:C564392|SCTID:715647007|ICD10:H35.5|OMIM:607475|DOID:0050683|UMLS:C1843816 owl:Class MONDO:0009800 biolink:NamedThing Blount disease, adolescent tmpaxzxjjyw_mondo_relaxed.owl Osteochondrosis deformans tibiae, adolescent|Blount disease, adolescent|tibia vara, adolescent Orphanet:2768|OMIM:259200|UMLS:C3151572 owl:Class MONDO:0016724 biolink:NamedThing papillary tumor of the pineal region Papillary tumor of the pineal region (PTPR) is a very rare neoplasm of the pineal region that is thought to arise from the specialized ependymocytes of the subcommissural organ and that manifests with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus. tmpaxzxjjyw_mondo_relaxed.owl PTPR ONCOTREE:PTPR|EFO:1000451|NCIT:C92624|UMLS:C2985219|Orphanet:251915|ICDO:9395/3|ICD10:D44.5 owl:Class MONDO:0002701 biolink:NamedThing ovarian mucinous cystadenocarcinoma An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl ovary mucinous cystadenocarcinoma|mucinous cystadenocarcinoma of ovary|ovarian mucinous cystadenocarcinoma|mucinous cystadenocarcinoma of the ovary DOID:3604|NCIT:C4026|UMLS:C0279665|SCTID:254851009|EFO:1001963 owl:Class MONDO:0005418 biolink:NamedThing non-compaction cardiomyopathy Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. tmpaxzxjjyw_mondo_relaxed.owl EFO:0004686 owl:Class ENVO:01001227 biolink:NamedThing aquatic natural environment A natural environment which is within a water body. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015377 biolink:NamedThing third branchial cleft anomaly tmpaxzxjjyw_mondo_relaxed.owl third branchial cleft fistula|third branchial cleft cyst ICD10:Q18.0|SCTID:73391000119102|Orphanet:141030 owl:Class MONDO:0010114 biolink:NamedThing thanatophoric dysplasia, Glasgow variant tmpaxzxjjyw_mondo_relaxed.owl neonatally lethal short-limb skeletal dysplasia, Glasgow type|thanatophoric dysplasia, Glasgow variant Orphanet:93275|OMIM:273680|MESH:C536506|UMLS:C1848865 owl:Class MONDO:0011504 biolink:NamedThing NDE1-related microhydranencephaly NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem. Associated features are thin bones and scalp rugae. tmpaxzxjjyw_mondo_relaxed.owl hydranencephaly and microcephaly|microhydranencephaly|MHAC MESH:C537555|UMLS:C1857977|ICD10:Q04.8|Orphanet:443162|GARD:0010216|Orphanet:1665|OMIM:605013 owl:Class MONDO:0030894 biolink:NamedThing AMED syndrome, digenic tmpaxzxjjyw_mondo_relaxed.owl AMEDS|bone marrow failure syndrome 7, digenic|AMED syndrome, digenic OMIM:619151 owl:Class HP:0030186 biolink:NamedThing Kinetic tremor Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. tmpaxzxjjyw_mondo_relaxed.owl Essential tremor UMLS:C0270736|SNOMEDCT_US:30721006|SNOMEDCT_US:609558009|MSH:D020329|MSH:D014202|UMLS:C0234376 human_phenotype owl:Class MONDO:0100391 biolink:NamedThing acute myeloid leukemia, t(2;12) Any acute myeloid leukemia that has the chromosomal anomaly t(2;12). (A cytogenetic abnormality that involves a translocation between chromosomes 2 and 12.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(2;12) NCIT:C173543 owl:Class MONDO:0013022 biolink:NamedThing restless legs syndrome, susceptibility to, 7 tmpaxzxjjyw_mondo_relaxed.owl restless legs syndrome, susceptibility to, 7|RLS7 OMIM:612853 owl:Class MONDO:0020559 biolink:NamedThing O'Sullivan-McLeod syndrome O'Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2721741|MedDRA:10069682|Orphanet:99965|ICD10:G12.8 owl:Class FOODON:03460225 biolink:NamedThing food component addition process tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0225 LanguaL curation note: A food product is characterized by its main ingredient (food source and part); the addition of secondary ingredients is considered a treatment applied to the product. Secondary ingredients are indexed according to rules that are based on the order of predominance by weight (not counting water) as seen from the label statement, formulation or recipe and/or from the amount of the ingredient as percentage of total product weight. The general rule is: an ingredient is always indexed if it is the second ingredient in order of predominance, if it is used as a filling, or if it is part of the product name(e.g., raisin bread). Specific rules are given in the scope note for the individual ingredient added; these rules specify more exhaustive indexing. For example, *MUSHROOM ADDED* is indexed regardless of ingredient position. another specific rule is given in the scope note for *SALTED*: Use if the level of salt is more than 4%. Such a rule is used only when the percentage level can be inferred from the list of ingredients. Damion Dooley owl:Class NCBITaxon:468 biolink:NamedThing Moraxellaceae tmpaxzxjjyw_mondo_relaxed.owl Acinetobacteraceae|Branhamaceae PMID:9542079|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0005102 biolink:NamedThing undifferentiated (embryonal) sarcoma An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells. tmpaxzxjjyw_mondo_relaxed.owl embryonal sarcoma (undifferentiated sarcoma)|embryonal sarcoma|embryonal sarcoma, undifferentiated|sarcoma, undifferentiated, malignant|undifferentiated (embryonal) sarcoma|undifferentiated sarcoma|UES ICDO:8805/3|ICDO:8991/3|NCIT:C27096|GARD:0008650|UMLS:C0855073|EFO:0000730 owl:Class CHEBI:76726 biolink:NamedThing EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor An oxidoreductase inhibitor which interferes with the action of an oxidoreductase acting on the CH-OH group of donors (EC 1.1.*.*). tmpaxzxjjyw_mondo_relaxed.owl EC 1.1.* inhibitor|inhibitors of oxidoreductase acting on CH-OH group of donor|oxidoreductase acting on donor CH-OH group inhibitor|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitor|inhibitors of oxidoreductase acting on CH-OH group of donors|inhibitor of oxidoreductase acting on CH-OH group of donor|oxidoreductase acting on donor CH-OH group (EC 1.1.*) inhibitors|inhibitor of oxidoreductase acting on CH-OH group of donors|EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitors|EC 1.1.* inhibitors|oxidoreductase acting on donor CH-OH group inhibitors owl:Class UBERON:0008115 biolink:NamedThing surface of cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35293 biolink:NamedThing fused compound tmpaxzxjjyw_mondo_relaxed.owl fused-ring polycyclic compounds|fused-ring polycyclic compound|polycyclic fused-ring compounds|fused polycyclic compounds|fused compounds owl:Class MONDO:0022444 biolink:NamedThing amyloidosis bronchopulmonary Amyloidosis with tracheobronchial deposits in diffuse plaques that can cause stenosis or parenchymal nodules or masses. tmpaxzxjjyw_mondo_relaxed.owl GARD:0001026 https://rarediseases.info.nih.gov/diseases/1026/amyloidosis-bronchopulmonary owl:Class MONDO:0009392 biolink:NamedThing hyperopia, high tmpaxzxjjyw_mondo_relaxed.owl hyperopia, high MESH:C565497|OMIM:238950 owl:Class MONDO:0019431 biolink:NamedThing primitive portal vein thrombosis Portal vein thrombosis (PVT) is associated with acute (recent) or chronic (long-standing) thrombosis of the portal system. tmpaxzxjjyw_mondo_relaxed.owl non-cirrhotic portal vein thrombosis MedDRA:10036206|Orphanet:854|ICD10:I81 owl:Class MONDO:0010656 biolink:NamedThing intellectual disability, X-linked 1 An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities. tmpaxzxjjyw_mondo_relaxed.owl MRX1|IQSEC2-related epilepsy|mental retardation, X-linked 78|MRX78|MRX|IQSEC2|mental retardation, X-linked 1|X-linked intellectual disability 1|IQSEC2-related intellectual disability|mental retardation, X-linked 18|intellectual disability, X-linked 1|X-linked intellectual disability 1/78|X-linked intellectual disability 78|mental retardation, X-linked type 1 MESH:C564489|NCIT:C133729|GARD:0013221|OMIM:309530|MESH:C567906 owl:Class MONDO:0015702 biolink:NamedThing T-B+ severe combined immunodeficiency due to CD45 deficiency tmpaxzxjjyw_mondo_relaxed.owl CD45 deficiency|T-B+ SCID due to CD45 deficiency ICD10:D81.2|OMIM:608971|DOID:0060014|Orphanet:169157|UMLS:C1837028 owl:Class SO:0001263 biolink:NamedThing ncRNA_gene A gene that encodes a non-coding RNA. tmpaxzxjjyw_mondo_relaxed.owl ncRNA gene|non-coding RNA gene owl:Class MONDO:0025003 biolink:NamedThing goat disease Diseases of the domestic or wild goat of the genus Capra. tmpaxzxjjyw_mondo_relaxed.owl caprine disease|diseases, caprine|disease, caprine|caprine diseases|disease, goat|goat disease|diseases, goat UMLS:C0018018|MESH:D015511 owl:Class MONDO:0002945 biolink:NamedThing micronodular basal cell carcinoma A basal cell carcinoma of the skin characterized by the presence of small nodules that permeate the dermis. It presents as an elevated or flat infiltrating tumor, usually in the back. tmpaxzxjjyw_mondo_relaxed.owl skin micronodular basal cell carcinoma UMLS:C1367861|NCIT:C27541|DOID:4289|SCTID:402529002 owl:Class MONDO:0008618 biolink:NamedThing mesomelic dwarfism, Reinhardt-Pfeiffer type Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula. tmpaxzxjjyw_mondo_relaxed.owl ulna and fibula, hypoplasia OF|hypoplasia of ulna and fibula|mesomelic dysplasia Reinhardt-Pfeiffer type|Reinhardt-Pfeiffer mesomelic dysplasia|Reinhardt-Pfeiffer syndrome|mesomelic dwarfism of hypoplastic ulna and fibula type MESH:C537349|Orphanet:2634|ICD10:Q78.8|OMIM:191400|GARD:0003555|UMLS:C1860616|SCTID:715472000 owl:Class MONDO:0006788 biolink:NamedThing hydrophthalmos Abnormal enlargement of the eye tmpaxzxjjyw_mondo_relaxed.owl ICD9:743.20|ICD9:743.2|MESH:D006871|SCTID:204113001|EFO:1000968|ICD10:Q15.0|DOID:11212 owl:Class MONDO:0020856 biolink:NamedThing bone marrow failure syndrome 4 tmpaxzxjjyw_mondo_relaxed.owl BMFS4|BONE MARROW FAILURE SYNDROME 4 OMIM:618116 owl:Class MONDO:0025701 biolink:NamedThing leukodystrophy, hypomyelinating, 22 tmpaxzxjjyw_mondo_relaxed.owl HLD22 OMIM:619328 owl:Class MONDO:0008505 biolink:NamedThing surface antigen, glycoprotein 75 tmpaxzxjjyw_mondo_relaxed.owl surface antigen, glycoprotein 75|surface glycoprotein 75|surface antigen, glycoprotein type 75 OMIM:185540 owl:Class MONDO:0017225 biolink:NamedThing null syndrome The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy. tmpaxzxjjyw_mondo_relaxed.owl PLP1 null syndrome|Pelizaeus-Merzbacher disease, null syndrome Orphanet:280234|ICD10:E75.2|UMLS:CN202707 owl:Class MONDO:0020662 biolink:NamedThing borderline ovarian serous tumor A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion. tmpaxzxjjyw_mondo_relaxed.owl proliferating serous tumor of ovary|ovarian serous tumor of low malignant potential|borderline ovarian serous neoplasm|proliferating serous neoplasm of ovary|proliferating ovarian serous neoplasm|serous tumor of the ovary with low malignant potential|ovarian serous neoplasm of low malignant potential|borderline serous neoplasm of ovary|proliferating ovarian serous tumor|proliferating serous tumor of the ovary|borderline serous tumor of the ovary|serous neoplasm of the ovary with low malignant potential|serous tumor of ovary with low malignant potential|borderline ovarian serous tumor|borderline serous tumor of ovary|serous ovarian neoplasm of low malignant potential|proliferating serous neoplasm of the ovary|borderline serous neoplasm of the ovary|serous ovarian tumor of low malignant potential|serous neoplasm of ovary with low malignant potential NCIT:C5226 owl:Class UBERON:0003425 biolink:NamedThing renal lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:33084 biolink:NamedThing Entamoebidae tmpaxzxjjyw_mondo_relaxed.owl Entamoebida GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008719 biolink:NamedThing acrorenal syndrome, autosomal recessive Autosomal recessive form of acrorenal syndrome. tmpaxzxjjyw_mondo_relaxed.owl acrorenal syndrome recessive|acrorenal syndrome, autosomal recessive|autosomal recessive acrorenal syndrome|Curran syndrome|acrorenal syndrome autosomal recessive Orphanet:971|GARD:0000514|OMIM:201310|MESH:C535666|UMLS:C0796290 owl:Class MONDO:0010645 biolink:NamedThing oculocerebrorenal syndrome Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure. tmpaxzxjjyw_mondo_relaxed.owl oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|OCR|Lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|oculocerebrorenal dystrophy|Lowe oculo-cerebro-renal syndrome|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculocerebrorenal syndrome|oculocerebrorenal syndrome of Lowe|Lowe disease|Ocrl1|Lowe oculocerebrorenal syndrome|OCRL UMLS:C0028860|ICD9:270.8|ICD10:E72.0|SCTID:79385002|OMIM:309000|NCIT:C84940|Orphanet:534|MedDRA:10051707|ICD10:E72.03|GARD:0003295|MESH:D009800|DOID:1056 owl:Class MONDO:0005367 biolink:NamedThing heroin dependence Physical and psychological dependence on the drug heroin. tmpaxzxjjyw_mondo_relaxed.owl Heroin addiction MESH:D006556|EFO:0004240|NCIT:C34694|DOID:9976|SCTID:231477003|UMLS:CN236651 owl:Class MONDO:0005530 biolink:NamedThing opiate dependence Disorders related or resulting from abuse or mis-use of opioids. tmpaxzxjjyw_mondo_relaxed.owl narcotism|opioid dependence|opioid type dependence EFO:0005611|ICD10:F11.2|ICD9:304.00|SCTID:75544000|ICD9:304.0|MESH:D009293|DOID:2559 owl:Class FOODON:03400643 biolink:NamedThing Codex Alimentarius classification of food and feed commodities Codex Alimentarius, Volume 2 - 1993, Section 2: Pesticide Residues in Food. The Codex Classification of food and animal feed commodities moving in trade and the description of the various items and groups of food and animal feedstuffs included in the present document have been developed by the Codex Committee on Pesticide Residues. It was first adopted by the 18th Session of the Codex Alimentarius Commission, (1989). The Codex Classification includes food commodities and animal feedstuffs for which Codex maximum residue limits will not necessarily be established. The Classification is intended to be as complete a listing of food commodities in trade as possible, classified into groups on the basis of the commodity's similar potential for pesticide residues. The Classification may also be appropriate for other purposes such as setting maximum levels for other types of residues or for other contaminants in food. The Codex Classification should be consulted in order to obtain a precise description of the food or animal feed commodities and, especially, in cases where Codex maximum residue limits have been set for groups of food and groups of animal feedstuffs. The Codex Classification is intended to promote harmonization of the terms used to describe commodities which are subject to maximum residue limits and of the approach to grouping commodities with similar potential for residue for which a common group maximum residue limit can be set. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0643 LanguaL curation note: This term is for CLASSIFICATION ONLY; DO NOT USE term in indexing. Use a more precise narrower term. http://langual.org owl:Class GO:0016774 biolink:NamedThing phosphotransferase activity, carboxyl group as acceptor Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to a carboxyl group (acceptor). tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000661 biolink:NamedThing alexithymia An agnosia that is a deficiency in understanding, processing, or describing emotions. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060131 owl:Class MONDO:0013793 biolink:NamedThing encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency tmpaxzxjjyw_mondo_relaxed.owl encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency OMIM:614520|UMLS:C3281106 owl:Class MONDO:0004533 biolink:NamedThing perineural angioma A hemangioma arising from perineural tissues. tmpaxzxjjyw_mondo_relaxed.owl perineural hemangioma NCIT:C6526|DOID:8331|UMLS:C1335382 owl:Class MONDO:0019967 biolink:NamedThing Kienbock disease Kienbock disease is a rare bone disorder of unknown etiology characterized clinically by osteonecrosis of the carpal lunate, eventually leading to collapse of the lunate bone impacting wrist function. tmpaxzxjjyw_mondo_relaxed.owl osteochondritis of the lunate bone|Lunatomalacia|bilateral Kienbock's disease|Kienbock's disease|Osteochondrosis of the lunate bone|aseptic necrosis of the lunate bone ICD10:M92.2|ICD10:M93.2|Orphanet:97332|MedDRA:10064242|GARD:0009690 owl:Class HGNC:387 biolink:NamedThing AKR1C4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:26090 biolink:NamedThing CCDC40 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007373 biolink:NamedThing corneal degeneration, ribbonlike, with deafness tmpaxzxjjyw_mondo_relaxed.owl band keratopathy with deafness|corneal degeneration, ribbonlike, with deafness MESH:C565157|OMIM:121450|UMLS:C1852556 owl:Class MONDO:0012905 biolink:NamedThing hypomyelinating leukodystrophy 6 Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. tmpaxzxjjyw_mondo_relaxed.owl leukodystrophy, hypomyelinating, type 6|hypomyelinating leukodystrophy type 6|HABC|leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum|HLD6|leukodystrophy, hypomyelinating, 6|hypomyelination with atrophy of basal ganglia and cerebellum|H-ABC ICD10:E75.2|UMLS:C2676244|OMIM:612438|DOID:0060798|MESH:C567314|Orphanet:139441|GARD:0010917 owl:Class MONDO:0006797 biolink:NamedThing hypertensive retinopathy Retinopathy due to hypertension. tmpaxzxjjyw_mondo_relaxed.owl ICD9:362.11|MESH:D058437|EFO:1000977|SCTID:6962006|ICD10:H35.03|MedDRA:10020839|DOID:11561|UMLS:C0152132|NCIT:C3514 owl:Class MONDO:0008105 biolink:NamedThing nose, anomalous shape of tmpaxzxjjyw_mondo_relaxed.owl nose, anomalous shape of|potato Nose MESH:C538354|OMIM:164000|GARD:0010040 owl:Class PATO:0002478 biolink:NamedThing transversely striated A shape quality inhering in a bearer by virtue of the bearer's being marked by narrow lines or grooves, usually parallel, that are oriented transversely relative to the long axis of the bearer. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012470 biolink:NamedThing prostate cancer, hereditary, 7 tmpaxzxjjyw_mondo_relaxed.owl HPC7|prostate cancer aggressiveness|prostate cancer, hereditary, 7 UMLS:C1853195|MESH:C565201|OMIM:610321 owl:Class MONDO:0009110 biolink:NamedThing dicarboxylic aminoaciduria Dicarboxylicaminoaciduria is characterised by infantile-onset hypoglycaemia and hyperprolinaemia associated, in certain cases, with intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl Dicarboxylicaminoaciduria|DCBXA|dicarboxylic aminoaciduria|glutamate-aspartate Transport defect|glutamate-aspartate transport defect MESH:C536171|UMLS:C1857253|DOID:0060650|Orphanet:2195|OMIM:222730|ICD10:E72.0|GARD:0001855|SCTID:716747007 https://rarediseases.info.nih.gov/diseases/1855/dicarboxylic-aminoaciduria owl:Class MONDO:0004421 biolink:NamedThing sclerosing breast papilloma A breast papilloma characterized by the presence of predominant sclerosing architectural features. tmpaxzxjjyw_mondo_relaxed.owl sclerosing breast papilloma|Complex sclerosing papillary lesion of the breast|Complex sclerosing papillary lesion DOID:7984|NCIT:C27944|UMLS:C1335932 owl:Class MONDO:0010760 biolink:NamedThing XH antigen tmpaxzxjjyw_mondo_relaxed.owl XH antigen OMIM:314800 owl:Class MONDO:0004697 biolink:NamedThing esophageal leukoplakia A rare condition that usually affects the middle-to-distal esophagus in middle-aged and elderly people. There is usually a history of tobacco smoking or alcohol intake. Dysphagia is the presenting symptom. Morphologically, the lesions are well-demarcated and are characterized by epithelial hyperplasia, thickened basal layer, prominent granular cell layer, and hyperorthokeratosis. In a minority of patients this condition is associated with adjacent high-grade squamous dysplasia and/or squamous cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl esophageal epidermoid metaplasia|esophageal leukoplakia (disease)|leukoplakia of the esophagus|leukoplakia of esophagus|esophagus leukoplakia|esophageal leukoplakia esophageal leukoplakia (disease) HP:0012859|DOID:9021|ICD9:530.83|SCTID:89057003|UMLS:C0267095|NCIT:C3953 owl:Class MONDO:0025382 biolink:NamedThing sarcoma, avian Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses. tmpaxzxjjyw_mondo_relaxed.owl Avian sarcoma|sarcomas, Avian|Avian sarcomas|Rous sarcoma|sarcoma, Rous MESH:D001357 owl:Class UBERON:0010536 biolink:NamedThing nephron progenitor tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020851 biolink:NamedThing spermatogenic failure 30 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 30|SPGF30 OMIM:618110 owl:Class MONDO:0007188 biolink:NamedThing primary basilar invagination Primary basilar impression (PBI) is a very rare skeletal developmental defect characterized by congenital upward translocation of the upper cervical spine and clivus into the foramen magnum. PBI can be asymptomatic or associated with severe neurological dysfunction. tmpaxzxjjyw_mondo_relaxed.owl Bull-Nixon syndrome|primary basilar impression|basilar impression, primary ICD10:Q75.8|GARD:0001037|Orphanet:2285|MESH:C566226|OMIM:109500|UMLS:C1862299 owl:Class HGNC:20509 biolink:NamedThing ZC3H14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3585 biolink:NamedThing FANCD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0006347 biolink:NamedThing communicating artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006464 biolink:NamedThing thyroid gland mucosa-associated lymphoid tissue lymphoma An extranodal marginal zone B-cell lymphoma arising from mucosa-associated lymphoid tissue in the thyroid gland. The vast majority of cases are associated with chronic lymphocytic thyroiditis. tmpaxzxjjyw_mondo_relaxed.owl thyroid MALT lymphoma|thyroid mucosa-associated lymphoid tissue lymphoma EFO:1000591|NCIT:C7601|UMLS:C1336754 owl:Class GO:0050839 biolink:NamedThing cell adhesion molecule binding Binding to a cell adhesion molecule. tmpaxzxjjyw_mondo_relaxed.owl adhesive extracellular matrix constituent|cell adhesion receptor activity|cell adhesion molecule activity|CAM binding owl:Class HGNC:5005 biolink:NamedThing HMGCL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012453 biolink:NamedThing hereditary spastic paraplegia 31 A rare type of hereditary spastic paraplegia usually characterized by a pure phenotype of proximal weakness of the lower extremities with spastic gait and brisk reflexes, with a bimodal age of onset of either childhood or adulthood (>30 years). In some cases, it can present as a complex phenotype with additional associated manifestations including peripheral neuropathy, bulbar palsy (with dysarthria and dysphagia), distal amyotrophy, and impaired distal vibration sense. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant spastic paraplegia 31|hereditary spastic paraplegia caused by mutation in REEP1|SPG31|spastic paraplegia 31, autosomal dominant|spastic paraplegia 31|REEP1 hereditary spastic paraplegia|autosomal dominant spastic paraplegia type 31|hereditary spastic paraplegia type 31 OMIM:610250|Orphanet:101011|MESH:C565210|GARD:0010817|ICD10:G11.4|SCTID:763068005|UMLS:C1853247|DOID:0110782 owl:Class MONDO:0012697 biolink:NamedThing otosclerosis 7 tmpaxzxjjyw_mondo_relaxed.owl otosclerosis 7|OTSC7 MESH:C566913|UMLS:C1969044|OMIM:611572 owl:Class MONDO:0008273 biolink:NamedThing actinic prurigo tmpaxzxjjyw_mondo_relaxed.owl Hutchinson summer prurigo|polymorphic Light eruption, hereditary|juvenile Spring eruption of ears|familial polymorphous light eruption of American Indians|hereditary polymorphous light eruption of American Indians|actinic prurigo|hydroa aestivale Orphanet:330061|SCTID:201015007|UMLS:C0406217|ICD10:L56.4|OMIM:174770 owl:Class MONDO:0017327 biolink:NamedThing primary non-gestational choriocarcinoma of ovary Primary non-gestational choriocarcinoma of ovary is a rare ovarian germ cell malignant tumor, arising from primordial germ cells, usually presenting with nausea, vomiting, abdominal pain, menstrual irregularities, and characterized by fast growth pattern, metastasis to lung, liver and brain and production of human chorionic gonadotrophin (hCG). It is apparently chemoresistant and has a worse prognosis than gestational choriocarcinoma and hence should be distinguished from the latter by DNA polymorphism. tmpaxzxjjyw_mondo_relaxed.owl NGCO|primary non-gestational ovarian choriocarcinoma Orphanet:289356|SCTID:716588005|UMLS:C4274424|UMLS:CN202967|ICD10:C56 owl:Class MONDO:0018061 biolink:NamedThing trichodermodysplasia-dental alterations syndrome Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986. tmpaxzxjjyw_mondo_relaxed.owl Pinheiro Freire-Maia Miranda syndrome|Pinheiro-Freire Maia-Miranda syndrome|Trichodermodysplasia with dental alterations GARD:0004369|Orphanet:3353|UMLS:C2931485|MESH:C537402 owl:Class MONDO:0011051 biolink:NamedThing lethal short-limb skeletal dysplasia, Al Gazali type tmpaxzxjjyw_mondo_relaxed.owl lethal short-limb skeletal dysplasia, Al Gazali type|lethal neonatal short limb dwarfism|lethal short limb skeletal dysplasia Al Gazali type UMLS:C1832435|GARD:0004827|MESH:C537598|OMIM:601356 https://rarediseases.info.nih.gov/diseases/4827/lethal-short-limb-skeletal-dysplasia-al-gazali-type owl:Class MONDO:0033373 biolink:NamedThing developmental and epileptic encephalopathy, 64 tmpaxzxjjyw_mondo_relaxed.owl DEE64|epileptic encephalopathy, early infantile, 64|EIEE64 OMIM:618004|UMLS:CN248512 owl:Class MONDO:0004236 biolink:NamedThing duodenal somatostatinoma A somatostatin-producing neuroendocrine tumor that arises from the duodenum. It is characterized by the presence of tubulo-glandular structures. tmpaxzxjjyw_mondo_relaxed.owl duodenal delta cell somatostatin producing tumor|duodenal somatostatin-producing NET|duodenal somatostatin-producing neuroendocrine tumor|duodenal somatostatin producing tumor|duodenal somatostatinoma DOID:7479|NCIT:C27407|UMLS:C1333320 owl:Class ENVO:00000002 biolink:NamedThing anthropogenic geographic feature An anthropogenic geographic feature is a geographic feature resulting from the influence of human beings on nature. tmpaxzxjjyw_mondo_relaxed.owl manmade feature|man-made feature owl:Class ENVO:00000000 biolink:NamedThing geographic feature tmpaxzxjjyw_mondo_relaxed.owl macroscopic spatial feature owl:Class MONDO:0008452 biolink:NamedThing spinal muscular atrophy, facioscapulohumeral type tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy, facioscapulohumeral type|Fshsma MESH:C566674|UMLS:C1866783|OMIM:182970 owl:Class HGNC:4313 biolink:NamedThing GLDC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008874 biolink:NamedThing Bangstad syndrome Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989. tmpaxzxjjyw_mondo_relaxed.owl Bangstad syndrome|ataxia-diabetes-goiter-gonadal insufficiency syndrome|Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency|Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency Orphanet:1227|SCTID:237614004|OMIM:210740|UMLS:C0342284|ICD9:759.89|ICD10:E31.8|GARD:0000812|MESH:C537902 https://rarediseases.info.nih.gov/diseases/812/bangstad-syndrome owl:Class MONDO:0005202 biolink:NamedThing atopic IgE-mediated allergic disorder A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms. tmpaxzxjjyw_mondo_relaxed.owl atopic state|Atopic allergy|atopy SCTID:115665000|ICD9:995.3|UMLS:C1706410|EFO:0002686|NCIT:C41366 Editor notes: this is a finding in NCIT owl:Class ECTO:4000034 biolink:NamedThing exposure to increased air temperature A exposure event involving the interaction of an exposure receptor to increased amount of temperature of air. tmpaxzxjjyw_mondo_relaxed.owl exposure to increased amount in temperature of air owl:Class GO:0019359 biolink:NamedThing nicotinamide nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of nicotinamide nucleotides, any nucleotide that contains combined nicotinamide. tmpaxzxjjyw_mondo_relaxed.owl nicotinamide nucleotide synthesis|nicotinamide nucleotide biosynthesis|nicotinamide nucleotide formation|nicotinamide nucleotide anabolism owl:Class GO:0019363 biolink:NamedThing pyridine nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base. tmpaxzxjjyw_mondo_relaxed.owl pyridine nucleotide formation|pyridine nucleotide biosynthesis|pyridine nucleotide synthesis|pyridine nucleotide anabolism owl:Class MONDO:0004687 biolink:NamedThing severe nonproliferative diabetic retinopathy tmpaxzxjjyw_mondo_relaxed.owl severe nonproliferative retinopathy|severe NPDR|severe nonproliferative diabetic retinopathy|high risk non proliferative diabetic retinopathy|severe npdr SCTID:312905005|ICD9:362.06|DOID:8946|UMLS:C0730278 owl:Class HP:0031348 biolink:NamedThing Dextrotransposition of the great arteries A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. tmpaxzxjjyw_mondo_relaxed.owl D-loop transposition of the great arteries|D-TGA 2017-08-27 14:17:00+00:00 Fyler:0700|Fyler:700 peter human_phenotype owl:Class MONDO:0011617 biolink:NamedThing arthropathy, erosive tmpaxzxjjyw_mondo_relaxed.owl arthropathy, erosive OMIM:605935|MESH:C565273|UMLS:C1853829 owl:Class NCBITaxon:82105 biolink:NamedThing Cladophialophora tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018000 biolink:NamedThing hereditary thrombocytosis with transverse limb defect Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly. tmpaxzxjjyw_mondo_relaxed.owl familial thrombocytosis with transverse limb defect|thrombocythemia with distal limb defects UMLS:CN204208|ICD10:Q87.2|Orphanet:329319 owl:Class IAO:0000015 biolink:NamedThing information carrier A quality of an information bearer that imparts the information content tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007429 biolink:NamedThing optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy tmpaxzxjjyw_mondo_relaxed.owl optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy|dominant optic atrophy plus syndrome|optic atrophy 1 and deafness GARD:0009897|OMIM:125250|Orphanet:1215|UMLS:C1852267|UMLS:C3276549 owl:Class UBERON:0016513 biolink:NamedThing cavity of left atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015720 biolink:NamedThing moderately severe hemophilia A Moderately severe hemophilia A is a form of hemophilia A characterized by factor VIII deficiency leading to abnormal bleeding as a result of minor injuries, or following surgery or tooth extraction. tmpaxzxjjyw_mondo_relaxed.owl moderately severe factor VIII deficiency|moderately severe hemophilia type A UMLS:CN200231|Orphanet:169805|ICD10:D66 owl:Class MONDO:0012440 biolink:NamedThing migraine with or without aura, susceptibility to, 10 tmpaxzxjjyw_mondo_relaxed.owl migraine with pulsation|migraine with or without aura, susceptibility to, 10|Mgr10|migraine with or without aura, susceptibility to, type 10 OMIM:610208 owl:Class HGNC:11559 biolink:NamedThing TALDO1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020084 biolink:NamedThing lymphoproliferative disease associated with primary immune disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98291|UMLS:CN206986|ICD10:D47.9 owl:Class HGNC:7150 biolink:NamedThing MLYCD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015014 biolink:NamedThing coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness tmpaxzxjjyw_mondo_relaxed.owl coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD|COMMAD|coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness OMIM:617306|UMLS:C4310625 owl:Class GO:0019955 biolink:NamedThing cytokine binding Binding to a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity. tmpaxzxjjyw_mondo_relaxed.owl IL binding|interleukin binding owl:Class MONDO:0003898 biolink:NamedThing pediatric myxoid chondrosarcoma A myxoid chondrosarcoma occurring in children. tmpaxzxjjyw_mondo_relaxed.owl myxoid chondrosarcoma of childhood|pediatric myxoid chondrosarcoma|childhood myxoid chondrosarcoma UMLS:C1332984|DOID:6494|NCIT:C27377 owl:Class HGNC:11363 biolink:NamedThing STAT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5467 biolink:NamedThing IGF2R tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004031 biolink:NamedThing ovary mixed epithelial carcinoma tmpaxzxjjyw_mondo_relaxed.owl mixed epithelial carcinoma of ovary|mixed ovarian carcinoma DOID:6898|ONCOTREE:MXOV Editor note: TODO owl:Class NCBITaxon:1350 biolink:NamedThing Enterococcus tmpaxzxjjyw_mondo_relaxed.owl PMID:8427810|PMID:9103648|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0017894 biolink:NamedThing acute myeloid leukemia with CEBPA somatic mutations Acute myeloid leukemia with CEBPA somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities, characterized by clonal proliferation of myeloid blasts harboring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anemia, thrombocytopenia, and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). tmpaxzxjjyw_mondo_relaxed.owl non-familial acute myeloid leukemia with mutated CEBPA|AML with CEBPA somatic mutations|AML with mutated CEBPA|acute myeloid Leukemia with non-germline mutated CEBPA|acute myeloid Leukemia with mutated CEBPA UMLS:C2826178|NCIT:C82433|Orphanet:319480|ICD10:C92.0|SCTID:764855007|OMIM:601626 owl:Class MONDO:0017563 biolink:NamedThing congenital patella dislocation, bilateral tmpaxzxjjyw_mondo_relaxed.owl Orphanet:295237|ICD10:Q74.1 owl:Class MONDO:0009497 biolink:NamedThing Kifafa seizure disorder tmpaxzxjjyw_mondo_relaxed.owl Complex familial seizure disorder|parkinsonian features and neurologic abnormalities, intellectual disability and transient psychotic episodes|Vitsala|parkinsonian features and neurologic abnormalities, mental retardation and transient psychotic episodes|Kifafa seizure disorder OMIM:245180|MESH:C537708|UMLS:C0796010|GARD:0008420 https://rarediseases.info.nih.gov/diseases/8420/kifafa-seizure-disorder owl:Class GO:0097734 biolink:NamedThing extracellular exosome biogenesis The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl exosome biogenesis|exosome assembly or secretion|exosome production|intraluminal vesicle assembly|ILV assembly owl:Class MONDO:0010228 biolink:NamedThing hearing loss, X-linked 3 tmpaxzxjjyw_mondo_relaxed.owl deafness X-linked, DFN3|DFNX3|deafness, X-linked 3|deafness, X-linked 4, congenital sensorineural OMIM:300030|MESH:C564727|GARD:0001707|Orphanet:90625|DOID:0111736 owl:Class NCBITaxon:302011 biolink:NamedThing Rickettsia conorii subsp. caspia tmpaxzxjjyw_mondo_relaxed.owl PMID:15766388|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0000898 biolink:NamedThing malignant hemangioma A malignant form of hemangioma. tmpaxzxjjyw_mondo_relaxed.owl hemangioma, malignant UMLS:C0474836|DOID:0080189 Editor note: hemangiomas currently classified as benign. Consider obsoleting these owl:Class NCBITaxon:216285 biolink:NamedThing Trochoidea tmpaxzxjjyw_mondo_relaxed.owl Phasianelloidea|Trochoidea|Turbinoidea GC_ID:1 NCBITaxon:479458|NCBITaxon:1756885 ncbi_taxonomy owl:Class HGNC:9580 biolink:NamedThing PSTPIP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004875 biolink:NamedThing xanthogranulomatous cholecystitis Cholecystitis that is characterized by nodules containing lipid. tmpaxzxjjyw_mondo_relaxed.owl CX DOID:9766|SCTID:448286002|MESH:C536762|UMLS:C1337035|GARD:0009451|NCIT:C35792 https://rarediseases.info.nih.gov/diseases/9451/xanthogranulomatous-cholecystitis owl:Class CL:2000087 biolink:NamedThing dentate gyrus of hippocampal formation basket cell Any basket cell that is part of a dentate gyrus of hippocampal formation. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-12-24T00:37:24Z cell owl:Class MONDO:0015406 biolink:NamedThing cerebrofacial arteriovenous metameric syndrome type 1 tmpaxzxjjyw_mondo_relaxed.owl CAMS1 UMLS:CN199501|Orphanet:141194|SCTID:703267003|ICD10:Q28.2|UMLS:C3840102 owl:Class HGNC:4879 biolink:NamedThing HEXB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008849 biolink:NamedThing atrophoderma vermiculata tmpaxzxjjyw_mondo_relaxed.owl folliculitis ulerythematosa reticulata|folliculitis ulerythematosa|folliculitis ulerythematosa reticulate|ava|honeycomb atrophy|atrophoderma vermiculatum|Atrophodermia vermiculata|atrophoderma vermiculata|Atrophodermia reticulata symmetrica faciei|Atrophodermia reticulata ICD9:701.8|ICD10:L66.4|GARD:0009744|SCTID:2736005|Orphanet:79100|OMIM:209700|OMIM:604093 https://rarediseases.info.nih.gov/diseases/9744/atrophoderma-vermiculata owl:Class HsapDv:0000083 biolink:NamedThing infant stage Immature stage that refers to an infant who is over 31 days and is under 24 months old. tmpaxzxjjyw_mondo_relaxed.owl 1-23 months|infantile stage owl:Class MONDO:0015339 biolink:NamedThing adrenomyeloneuropathy An adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males. Both males and females can be affected with AMN. tmpaxzxjjyw_mondo_relaxed.owl AMN|adrenomyeloneuropathy SCTID:65389002|Orphanet:139399|GARD:0010614|UMLS:C1527231|ICD10:E71.3|OMIM:300100 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0013356 biolink:NamedThing vesicoureteral reflux 3 Any vesicoureteral reflux in which the cause of the disease is a mutation in the SOX17 gene. tmpaxzxjjyw_mondo_relaxed.owl vesicoureteral reflux 3|VUR3|vesicoureteral reflux (disease) caused by mutation in SOX17|SOX17 vesicoureteral reflux (disease)|vesicoureteral reflux type 3 Orphanet:289365|OMIM:613674|UMLS:C3150927 owl:Class MONDO:0010991 biolink:NamedThing laterality defects, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl laterality defects, autosomal dominant|laterality defects dominant Orphanet:450|MESH:C563391|UMLS:C1832813|OMIM:601086|GARD:0003198 owl:Class MONDO:0032839 biolink:NamedThing noonan syndrome 12 tmpaxzxjjyw_mondo_relaxed.owl NS12|NOONAN SYNDROME 12 OMIM:618624 owl:Class MONDO:0002568 biolink:NamedThing tracheal stenosis Narrowing of the lumen of the trachea. tmpaxzxjjyw_mondo_relaxed.owl stenosis of trachea ICD9:519.19|DOID:3227|SCTID:11296007|NCIT:C78646|UMLS:C0040583|MESH:D014135 owl:Class MONDO:0007228 biolink:NamedThing brachymesomelia-renal syndrome tmpaxzxjjyw_mondo_relaxed.owl brachymesomelia-renal syndrome|brachymesomelia renal syndrome|severe upper limb brachymesomelia, glomerulocystic renal dysplasia, cranial and facial abnormalities, corneal opacities MESH:C537096|OMIM:113470|UMLS:C1862084|GARD:0000988 owl:Class MONDO:0012929 biolink:NamedThing Compton-North congenital myopathy tmpaxzxjjyw_mondo_relaxed.owl MYPCN|myopathy, congenital, Compton-NORTH|congenital lethal myopathy, Compton-North type|Compton-North congenital myopathy OMIM:612540|ICD10:G71.2|UMLS:C2675527|MESH:C567261|Orphanet:210163|DOID:0080101 owl:Class HP:0100502 biolink:NamedThing Vitamin B12 deficiency tmpaxzxjjyw_mondo_relaxed.owl Vitamin B12 deficiency MSH:D014806|SNOMEDCT_US:190634004|UMLS:C0042847 doelkens 2010-12-17T06:00:43Z human_phenotype owl:Class HP:0040126 biolink:NamedThing Abnormal vitamin B12 level A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. tmpaxzxjjyw_mondo_relaxed.owl Abnormal serum cobalamin level UMLS:C4021032 HPO:skoehler human_phenotype owl:Class CL:0002363 biolink:NamedThing keratocyte A keratocyte is a specialized fibroblast residing in the cornea stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate. tmpaxzxjjyw_mondo_relaxed.owl corneal fibroblast|corneal keratocyte tmeehan 2010-09-22T01:57:40Z cell owl:Class MONDO:0014036 biolink:NamedThing Alzheimer disease 17 An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer disease 17, late onset|AD17|Alzheimer's disease 17|Alzheimer disease 17, late-onset|Alzheimer disease 17|Alzheimer's disease type 17 OMIM:615080|UMLS:C3554452|DOID:0110049 owl:Class NBO:0000170 biolink:NamedThing memory behavior "Behavior related with the ability of an organism's ability to store, retain, and recall information and experiences." [NBO:GVG] tmpaxzxjjyw_mondo_relaxed.owl memory behaviour owl:Class MONDO:0004161 biolink:NamedThing uterine corpus apoplectic leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by zones of hemorrhagic infarction surrounded by hypercellular areas. It usually develops in women of childbearing years, particularly those that are pregnant, post-partum, or taking oral contraceptives. tmpaxzxjjyw_mondo_relaxed.owl uterine corpus leiomyoma with apoplectic change|uterine corpus hemorrhagic cellular leiomyoma DOID:7241|NCIT:C40165|UMLS:C1519852 owl:Class MONDO:0008314 biolink:NamedThing pronation-supination of the forearm, impairment of tmpaxzxjjyw_mondo_relaxed.owl pronation-supination of the forearm, impairment of UMLS:C1867726|OMIM:176800|MESH:C566757 owl:Class MONDO:0010697 biolink:NamedThing ophthalmoplegia, external, and myopia tmpaxzxjjyw_mondo_relaxed.owl ophthalmoplegia, external, and myopia|myopia-ophthalmoplegia syndrome|OPEM MESH:C564087|UMLS:C1839577|OMIM:311000 owl:Class HGNC:15853 biolink:NamedThing ARFGEF2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010197 biolink:NamedThing whistling face syndrome, recessive form tmpaxzxjjyw_mondo_relaxed.owl whistling face syndrome, recessive form Orphanet:2053|MESH:C536699|DOID:0111606|UMLS:C1848470|GARD:0010024|OMIM:277720 https://rarediseases.info.nih.gov/diseases/10024/whistling-face-syndrome-recessive-form owl:Class MONDO:0100467 biolink:NamedThing preeclampsia/eclampsia 1 tmpaxzxjjyw_mondo_relaxed.owl hemolysis, elevated liver enzymes, and low platelet count|PEE1|toxemia of pregnancy|PREECLAMPSIA/eclampsia 1|PREG1|hypertension, pregnancy-induced OMIM:189800 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:16628 biolink:NamedThing SLC49A4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043110 biolink:NamedThing jones hersh yusk syndrome tmpaxzxjjyw_mondo_relaxed.owl aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly|aplasia cutis cleft palate epidermolysis|ptosis, ectropion, thin skin, beaked nose MESH:C535885|GARD:0003055|UMLS:C2931054 owl:Class MONDO:0006773 biolink:NamedThing gonadal tissue neoplasm Neoplasms composed of tissues of the ovary or the testis, not neoplasms located in the ovaries or testes. Gonadal tissues include germ cells, cells from the sex cord, and gonadal stromal cells. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000953|MESH:D018309|UMLS:C0206722 owl:Class MONDO:0030858 biolink:NamedThing immunodeficiency 75 tmpaxzxjjyw_mondo_relaxed.owl IMD75|immunodeficiency 75 OMIM:619126 owl:Class HGNC:12637 biolink:NamedThing KDM6A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023671 biolink:NamedThing oculopharyngodistal myopathy 3 tmpaxzxjjyw_mondo_relaxed.owl OPDM3 OMIM:619473 owl:Class MONDO:0100427 biolink:NamedThing non-iatrogenic A characteristic of a diseae in which it does not result from diagnostic and therapeutic procedures undertaken on a patient. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0006749 biolink:NamedThing mixed epithelioid and spindle cell melanoma A melanoma characterized by the presence of malignant large epithelioid melanocytes and malignant spindle-shaped melanocytes. tmpaxzxjjyw_mondo_relaxed.owl mixed epithelioid and spindle cell melanoma MESH:D018332|SCTID:254811006|NCIT:C66756|EFO:1000925|ICDO:8770/3 owl:Class HP:0000975 biolink:NamedThing Hyperhidrosis Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. tmpaxzxjjyw_mondo_relaxed.owl Sweating, increased|Sweating|Sweating profusely|Increased sweating|Profuse sweating|Excessive sweating|Diaphoresis MEDDRA:10020642|SNOMEDCT_US:312230002|MSH:D006945|MSH:D013546|UMLS:C0700590|SNOMEDCT_US:415690000|UMLS:C0038990|UMLS:C0020458|SNOMEDCT_US:52613005|SNOMEDCT_US:161857006|SNOMEDCT_US:364538006|SNOMEDCT_US:415691001 The terms hyperhidrosis and diaphoresis are often used interchangeably to describe excessive perspiration. Diaphoresis can be used to refer to excessive sweating that occurs with certain diseases (secondary hyperhidrosis). Since the HPO does not intend to provide coess for etiologies or diseases, we will use these terms interchangeably to refer to excessive perspiration without an appropriate cause such as hot and humid weather. HP:0001064|HP:0001011|HP:0007424 human_phenotype owl:Class MONDO:0016865 biolink:NamedThing Kleefstra syndrome due to a point mutation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:261652|ICD10:Q87.8|UMLS:CN202210 owl:Class MONDO:0010661 biolink:NamedThing severe X-linked intellectual disability, Gustavson type Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability with optic atrophy, deafness, and seizures|X-linked mental retardation Gustavson type|X-linked intellectual disability Gustavson type|mental retardation X-linked severe Gustavson type|gust|Gustavson syndrome|mental retardation with optic atrophy, deafness, and seizures|intellectual disability X-linked severe Gustavson type SCTID:722213009|Orphanet:3078|OMIM:309555|GARD:0005611|MESH:C536759|ICD10:F72.9|UMLS:C0795965 owl:Class MONDO:0018168 biolink:NamedThing primary non-essential cutis verticis gyrata tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204616|Orphanet:357225|ICD10:Q82.8 owl:Class MONDO:0005827 biolink:NamedThing lipoatrophic diabetes A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism. tmpaxzxjjyw_mondo_relaxed.owl Diabete, lipoatrophic|lipoatrophic Diabete|diabetes, lipoatrophic|lipoatrophic diabetes mellitus|lipoatrophic diabetes NCIT:C34537|DOID:11712|EFO:0007346|MESH:D003923|SCTID:127012008 owl:Class HGNC:29077 biolink:NamedThing IFT140 tmpaxzxjjyw_mondo_relaxed.owl owl:Class IAO:8000003 biolink:NamedThing main release ontology module An ontology module that is intended to be the primary release product and the one consumed by the majority of tools. tmpaxzxjjyw_mondo_relaxed.owl TODO: Add logical axioms that state that a main release ontology module is derived from (directly or indirectly) an editors module main release ontology module owl:Class CL:1000123 biolink:NamedThing metanephric nephron tubule epithelial cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001218 biolink:NamedThing acute laryngopharyngitis An upper respiratory tract disease which involves inflammation of both larynx and pharynx. tmpaxzxjjyw_mondo_relaxed.owl SCTID:55355000|ICD10:J06.0|UMLS:C0155817|DOID:11195|ICD9:465.0 owl:Class MONDO:0002613 biolink:NamedThing histrionic personality disorder A disorder characterized by an enduring pattern of excessively intense and superficial emotionality, attention seeking behavior, seductive appearance and speech, self dramatization and/or theatrical behavior. tmpaxzxjjyw_mondo_relaxed.owl histrionic personality disorder (disease)|histrionic personality disorder histrionic personality disorder (disease) ICD9:301.5|MESH:D006677|ICD10:F60.4|HP:0012077|ICD9:301.59|DOID:334|NCIT:C92634|ICD9:301.50|SCTID:55341008 owl:Class MONDO:0005536 biolink:NamedThing pancolitis Ulcerative colitis that involves the entire colon. tmpaxzxjjyw_mondo_relaxed.owl universal colitis|pan-ulcerative colitis EFO:0005626 owl:Class MONDO:0005101 biolink:NamedThing ulcerative colitis An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage. tmpaxzxjjyw_mondo_relaxed.owl left-sided ulcerative colitis|ulcerative colitis (disease)|ulcerative proctosigmoiditis|colitis ulcerative|ulcerative colitis ulcerative colitis (disease) EFO:0000729|ICD9:556.8|ICD10:K51|Orphanet:771|ICD9:556|ICD9:556.5|MESH:D003093|HP:0100279|DOID:8577|OMIM:266600|ICD10:K51.9|SCTID:64766004|UMLS:C0009324|ICD9:556.9|NCIT:C2952 owl:Class MONDO:0019007 biolink:NamedThing vaginal atresia tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q52.0|Orphanet:65681|HP:0000148|MedDRA:10046879 owl:Class MONDO:0010087 biolink:NamedThing Sugarman brachydactyly Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly with Major proximal phalangeal shortening|brachydactyly of the hands and feet with duplication of the first toes|Sugarman-Hager-Kulik syndrome|Sugarman brachydactyly|brachydactyly with major proximal phalangeal shortening DOID:0110979|OMIM:272150|Orphanet:498602|GARD:0005058 https://rarediseases.info.nih.gov/diseases/5058/sugarman-brachydactyly owl:Class HGNC:53 biolink:NamedThing ABCC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0030850 biolink:NamedThing Abnormal pulse pressure An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0855322 human_phenotype owl:Class GO:0015669 biolink:NamedThing gas transport The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016532 biolink:NamedThing Lennox-Gastaut syndrome Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies. tmpaxzxjjyw_mondo_relaxed.owl Lennox syndrome|LGS|macrocephaly and epileptic encephalopathy|epileptic encephalopathy Lennox-Gastaut type|encephalopathy of childhood NCIT:C84816|OMIM:606369|Orphanet:2382|SCTID:230418006|MESH:D065768|MedDRA:10048816|GARD:0009912|OMIM:616346|ICD10:G40.4|OMIM:615369|OMIM:617113|DOID:0050561|UMLS:C0238111 https://rarediseases.info.nih.gov/diseases/9912/lennox-gastaut-syndrome owl:Class MONDO:0003903 biolink:NamedThing benign vaginal mixed tumor A non-metastasizing, well circumscribed neoplasm that arises from the vagina and is characterized by the presence of a predominant benign mesenchymal component and benign glandular or squamous epithelial cells. tmpaxzxjjyw_mondo_relaxed.owl benign vaginal mixed tumor|vaginal spindle cell epithelioma DOID:6505|NCIT:C40280|UMLS:C1511107 owl:Class MONDO:0005016 biolink:NamedThing diabetic kidney disease Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis. tmpaxzxjjyw_mondo_relaxed.owl type 2 diabetes nephropathy|diabetic nephropathy|DKD|type 1 diabetes nephropathy EFO:0004997|NCIT:C84417|DOID:12785|DOID:11503|OMIM:612634|EFO:0004996|ICD9:250.40|SCTID:127013003|MESH:D003928|OMIM:612628|OMIM:612624|ICD9:250.4|ICD9:583.81|EFO:0000401|SCTID:49455004 owl:Class MONDO:0012473 biolink:NamedThing right pulmonary artery, anomalous origin of, familial tmpaxzxjjyw_mondo_relaxed.owl familial ARPA|right pulmonary artery, anomalous origin of, with ventricular septal defect, patent Foramen ovale, and patent ductus arteriosus|right pulmonary artery, anomalous origin of, familial|anomalous origin of right pulmonary artery familial|familial anomalous origin of right pulmonary artery|ARPA familial|Arpa, familial MESH:C535681|OMIM:610338|UMLS:C1835910|GARD:0010146 https://rarediseases.info.nih.gov/diseases/10146/anomalous-origin-of-right-pulmonary-artery-familial owl:Class MONDO:0007649 biolink:NamedThing gastric juice peptides tmpaxzxjjyw_mondo_relaxed.owl gastric juice peptides OMIM:137220 owl:Class GO:0016798 biolink:NamedThing hydrolase activity, acting on glycosyl bonds Catalysis of the hydrolysis of any glycosyl bond. tmpaxzxjjyw_mondo_relaxed.owl glycosidase activity|N-glycosylase|glycosylase owl:Class MONDO:0032810 biolink:NamedThing oocyte maturation defect 7 tmpaxzxjjyw_mondo_relaxed.owl OOMD7|OOCYTE MATURATION DEFECT 7 OMIM:618550 owl:Class MONDO:0007787 biolink:NamedThing Ambras type hypertrichosis universalis congenita Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth. tmpaxzxjjyw_mondo_relaxed.owl hypertrichosis universalis congenita, Ambras type|hypertrichosis, congenital generalized|HTC1|Ambras syndrome|congenital generalized hypertrichosis, Ambras type|hypertrichosis universalis congenita Ambras type|HTC 1 UMLS:C1840362|GARD:0008206|DOID:0111060|Orphanet:1023|ICD10:Q84.2|OMIM:145701|Orphanet:2222 owl:Class MONDO:0054615 biolink:NamedThing spermatogenic failure 18 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 18|SPGF18 DOID:0070165|OMIM:617576 owl:Class MONDO:0006563 biolink:NamedThing inverted follicular keratosis Seborrheic keratosis that arises from follicular structures in the skin. It presents as a solitary nodule in the skin and is characterized by the presence of prominent squamous eddies. tmpaxzxjjyw_mondo_relaxed.owl inverted follicular keratosis|inverted folicular keratosis NCIT:C9007|Wikipedia:Inverted_follicular_keratosis|DOID:6945|EFO:1000717|UMLS:C0334019|ICD9:264.8|SCTID:394728005 owl:Class HGNC:12692 biolink:NamedThing VIM tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:176894 biolink:NamedThing vitamin B6 phosphate anion tmpaxzxjjyw_mondo_relaxed.owl vitamin B-6 phosphate anions|vitamin B-6 phosphate anion|vitamin B6 phosphate anions owl:Class MONDO:0008712 biolink:NamedThing acrocraniofacial dysostosis Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. tmpaxzxjjyw_mondo_relaxed.owl Kaplan Plauchu Fitch syndrome|Kaplan-Plauchu-Fitch syndrome|acrocraniofacial dysostosis UMLS:C1860145|OMIM:201050|ICD10:Q87.0|MESH:C536892|SCTID:720418008|Orphanet:949|GARD:0003075 owl:Class MONDO:0003139 biolink:NamedThing mesangial proliferative glomerulonephritis Mesangial proliferative glomerulonephritis (MPGN) is a condition that affects the kidneys. Many experts consider it a variant of minimal change disease, but some experts believe it is a separate condition. It may present with nephrotic syndrome, which is a group of symptoms that include protein in the urine (proteinuria), low blood protein levels, high cholesterol levels, high triglyceride levels, and swelling. It can also present with blood in the urine (hematuria). MPGN is characterized by an increased number of mesangial cells in the glomeruli in the kidneys and damage to the glomeruli. Glomeruli are the structures that help filter wastes and fluids. MPGN may occur in several renal diseases such as IgA nephropathy (commonly), IgM nephropathy, lupus nephritis, and C1q nephropathy.However, in some cases, the underlying cause of MPGN remains unclear. Treatment may depend on the cause (if known) and may include steroids, mycophenolate mofetil, and/or cyclophosphamide, and other therapies to treat specific symptoms. Most people with MPGN have a good prognosis, but some may develop chronic kidney disease, which can progress to end stage renal failure. tmpaxzxjjyw_mondo_relaxed.owl Mesangioproliferative glomerulonephritis|glomerulonephritis - mesangial proliferative|mesangial proliferative GN UMLS:C0221238|GARD:0009580|DOID:4783|NCIT:C35445|SCTID:35546006 https://rarediseases.info.nih.gov/diseases/9580/mesangial-proliferative-glomerulonephritis owl:Class HGNC:16627 biolink:NamedThing CHEK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1968 biolink:NamedThing LYST tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008855 biolink:NamedThing MHC class II deficiency Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood. tmpaxzxjjyw_mondo_relaxed.owl BARE lymphocyte syndrome, type II, complementation group B, included|Bare lymphocyte syndrome, type II|severe combined immunodeficiency, HLA class ii-negative|Bare lymphocyte syndrome, type II, complementation group E|bare lymphocyte syndrome type II|SCID due to absent class II HLA antigens|BLS|Bare lymphocyte syndrome|major histocompatibility complex class II expression deficiency|SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included|BARE lymphocyte syndrome, type II|HLA class 2-negative severe combined immunodeficiency|Bare lymphocyte syndrome type 2|immunodeficiency by defective expression of HLA class 2|SCID, HLA Class 2-negative|BLS, type II|SCID, HLA Class II-negative|Bare lymphocyte syndrome, type II, complementation group A|Bare lymphocyte syndrome, type 2|BARE lymphocyte syndrome, type II, complementation group E, included|BARE lymphocyte syndrome, type II, complementation group C, included|Bare lymphocyte syndrome, type II, complementation group C|Bls, type 2|HLA class 2-negative SCID|BARE lymphocyte syndrome|immunodeficiency by defective expression of HLA class type 2|BARE lymphocyte syndrome, type II, complementation group D, included|severe combined immunodeficiency, HLA Class II-negative|BLSII|Bare lymphocyte syndrome, type II, complementation group B|Bare lymphocyte syndrome 2|BLS 2|MHC class II expression deficiency|BLS type II|Bare lymphocyte syndrome, type II, complementation group D Orphanet:572|MESH:C537079|DOID:5812|ICD10:D81.6|GARD:0000824|UMLS:CN239286|SCTID:71904008|NCIT:C3895|OMIM:209920|ICD10:D81.7 https://rarediseases.info.nih.gov/diseases/824/bare-lymphocyte-syndrome-2 owl:Class UBERON:0024045 biolink:NamedThing white matter of the cerebellar cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012283 biolink:NamedThing cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss tmpaxzxjjyw_mondo_relaxed.owl cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss MESH:C536427|GARD:0010063|OMIM:609466|UMLS:C1836120 https://rarediseases.info.nih.gov/diseases/10063/cleft-palate-midfacial-hypoplasia-triangular-facies-and-sensorineural-hearing-loss owl:Class HGNC:3143 biolink:NamedThing EBVS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012886 biolink:NamedThing inflammatory bowel disease 22 An inflammatory bowel disease that has material basis in variation in the chromosome region 17q21.2. tmpaxzxjjyw_mondo_relaxed.owl IBD22|inflammatory bowel disease type 22|inflammatory bowel disease 22 DOID:0110905|MESH:C567327|UMLS:C2676485|OMIM:612380 owl:Class SO:0000663 biolink:NamedThing tRNA_encoding A region that can be transcribed into a transfer RNA (tRNA). tmpaxzxjjyw_mondo_relaxed.owl tRNA encoding owl:Class MONDO:0012643 biolink:NamedThing hereditary spastic paraplegia 32 Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia 32|SPG32|spastic paraplegia 32, autosomal recessive|autosomal recessive spastic paraplegia 32|autosomal recessive spastic paraplegia type 32|hereditary spastic paraplegia type 32 UMLS:C4511958|Orphanet:171622|UMLS:C1970009|SCTID:726606003|MESH:C566983|GARD:0012749|DOID:0110783|OMIM:611252|ICD10:G11.4 owl:Class NCBITaxon:742845 biolink:NamedThing Malasseziaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023662 biolink:NamedThing lymphatic malformation 10 tmpaxzxjjyw_mondo_relaxed.owl LMPHM10 OMIM:619369 owl:Class MONDO:0010597 biolink:NamedThing glutamyl ribose-5-phosphate storage disease tmpaxzxjjyw_mondo_relaxed.owl ADP-ribose Protein hydrolase deficiency|glutamyl ribose-5-phosphate storage disease UMLS:C1844440|MESH:C564422|OMIM:305920 owl:Class MONDO:0007480 biolink:NamedThing dwarfism with stiff joints and ocular abnormalities tmpaxzxjjyw_mondo_relaxed.owl dwarfism with stiff joints and ocular abnormalities|Moore-Federman syndrome SCTID:72913007|OMIM:127200|MESH:C535724|ICD9:759.89|Orphanet:2569 owl:Class MONDO:0007309 biolink:NamedThing Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications. tmpaxzxjjyw_mondo_relaxed.owl CMT 1A|Charcot-Marie-Tooth disease type 1A|CMT1A|HMSN 1A|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A|Charcot-Marie-Tooth neuropathy, type 1A|Charcot-Marie-Tooth neuropathy type 1A|HMSN1A|Charcot-Marie-Tooth disease, demyelinating, type 1A|hereditary motor and sensory neuropathy 1A|microduplication 17p12|Charcot Marie Tooth disease type 1A GARD:0001245|OMIM:118220|UMLS:C0270911|DOID:0110148|ICD10:G60.0|Orphanet:101081|NCIT:C75468 https://rarediseases.info.nih.gov/diseases/1245/charcot-marie-tooth-disease-type-1a owl:Class HP:0012219 biolink:NamedThing Erythema nodosum An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:32861005|MSH:D004893|UMLS:C0014743 The nodules of erythema nodosum are located predominantly on the shins with less common occurrence on the thighs and forearms. They undergo characteristic color changes ending in temporary bruise-like areas, and usually subside in 3-6 weeks without scarring or atrophy. peter 2013-03-30T06:57:07Z human_phenotype owl:Class MONDO:0054761 biolink:NamedThing microcephaly 20, primary, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl microcephaly 20, PRIMARY, autosomal recessive|MCPH20 OMIM:617914 owl:Class MONDO:0014080 biolink:NamedThing osteosclerotic metaphyseal dysplasia tmpaxzxjjyw_mondo_relaxed.owl osteosclerotic metaphyseal dysplasia|OSMD OMIM:615198|Orphanet:500548|UMLS:C3554665 owl:Class GO:0030031 biolink:NamedThing cell projection assembly Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. tmpaxzxjjyw_mondo_relaxed.owl formation of a cell surface projection|cell projection biogenesis owl:Class MONDO:0012446 biolink:NamedThing seborrhea-like dermatitis with psoriasiform elements tmpaxzxjjyw_mondo_relaxed.owl seborrhea-like dermatitis with psoriasiform elements OMIM:610227|UMLS:C1853258|MESH:C565217|Orphanet:168606 owl:Class MONDO:0006176 biolink:NamedThing cribriform carcinoma A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma. tmpaxzxjjyw_mondo_relaxed.owl cribriform carcinoma ICDO:8201/3|NCIT:C3680|EFO:1000210|UMLS:C0205643 owl:Class HGNC:30664 biolink:NamedThing CLPB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014404 biolink:NamedThing Webb-Dattani syndrome tmpaxzxjjyw_mondo_relaxed.owl WEBB-Dattani syndrome|hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies|hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome|Webb-Dattani syndrome|WEDAS Orphanet:370006|UMLS:C4014708|OMIM:615926 owl:Class MONDO:0020665 biolink:NamedThing high grade malignant neoplasm tmpaxzxjjyw_mondo_relaxed.owl high grade malignant neoplasm NCIT:C36046 owl:Class MONDO:0014686 biolink:NamedThing short stature, microcephaly, and endocrine dysfunction tmpaxzxjjyw_mondo_relaxed.owl SSMED|short stature, microcephaly, and endocrine dysfunction OMIM:616541|UMLS:C4225288 owl:Class CHEBI:38877 biolink:NamedThing intravenous anaesthetic tmpaxzxjjyw_mondo_relaxed.owl i.v.-Anaesthetika|intravenous anesthetics|i.v.-Anaesthetikum owl:Class CHEBI:33662 biolink:NamedThing annulene A mancude monocyclic hydrocarbon without side chains of the general formula CnHn (n is an even number) or CnHn+1 (n is an odd number). In systematic nomenclature an annulene with seven or more carbon atoms may be named [n]annulene, where n is the number of carbon atoms. tmpaxzxjjyw_mondo_relaxed.owl annulene|annulenes owl:Class HP:0003225 biolink:NamedThing Reduced coagulation factor V activity Decreased activity of coagulation factor V. tmpaxzxjjyw_mondo_relaxed.owl Factor V deficiency|Reduced factor V activity SNOMEDCT_US:4320005|UMLS:C0015499|MSH:D005166|SNOMEDCT_US:88776002 Factor V is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. human_phenotype owl:Class MONDO:0006078 biolink:NamedThing AIDS-related primary central nervous system lymphoma A lymphoma (non-Hodgkin or Hodgkin) arising from the central nervous system and occurring in HIV-positive patients. tmpaxzxjjyw_mondo_relaxed.owl AIDS related primary central nervous system lymphoma|AIDS related lymphoma of the primary central nervous system|AIDS related primary CNS lymphoma|AIDS-related primary CNS lymphoma|AIDS-related lymphoma of the primary central nervous system|AIDS-related lymphoma of primary central nervous system|AIDS related lymphoma of primary central nervous system UMLS:C0281241|NCIT:C8284|EFO:1000077 owl:Class CHEBI:78505 biolink:NamedThing venom A toxin used by animals and injected into their victims by a bite or sting. tmpaxzxjjyw_mondo_relaxed.owl venoms owl:Class UBERON:0005158 biolink:NamedThing parenchyma of central nervous system tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:27871 biolink:NamedThing Plagiorchiida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019780 biolink:NamedThing anotia Anotia is a congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10002654|ICD10:Q16.1|OMIM:600674|SCTID:57436000|ICD10:Q16.0|Orphanet:93976|ICD9:744.01 owl:Class NCBITaxon:1980486 biolink:NamedThing Puumala orthohantavirus tmpaxzxjjyw_mondo_relaxed.owl Puumala virus PV|Puumalavirus|Puumala virus|nephropathia epidemica virus|Puumala hantavirus GC_ID:1 NCBITaxon:11604 ncbi_taxonomy owl:Class MONDO:0015539 biolink:NamedThing progressive nodular histiocytosis Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease. tmpaxzxjjyw_mondo_relaxed.owl ICD10:D76.3|SCTID:765141005|Orphanet:158022 owl:Class UBERON:0013069 biolink:NamedThing popliteal area tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018448 biolink:NamedThing clear cell papillary renal cell carcinoma Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518333|Orphanet:404511|ONCOTREE:CCPRC|ICD10:C64|SCTID:734015000 owl:Class MONDO:0008160 biolink:NamedThing osteosclerosis with ichthyosis and fractures tmpaxzxjjyw_mondo_relaxed.owl osteosclerosis with ichthyosis and fractures|cortical thickening of long bones with bowing and ichthyosis UMLS:C1833697|OMIM:166740|MESH:C563483 owl:Class UBERON:0013757 biolink:NamedThing capillary blood tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004888 biolink:NamedThing partial circumpapillary choroid dystrophy tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154895|ICD9:363.51|DOID:9811|SCTID:193466003 owl:Class MONDO:0014642 biolink:NamedThing candidiasis, familial, 9 Any chronic mucocutaneous candidiasis in which the cause of the disease is a mutation in the IL17RC gene. tmpaxzxjjyw_mondo_relaxed.owl chronic mucocutaneous candidiasis (disease) caused by mutation in IL17RC|IL17RC chronic mucocutaneous candidiasis (disease)|candidiasis, familial, type 9|CANDF9|candidiasis, familial, 9 OMIM:616445|UMLS:C4225324 owl:Class MONDO:0022792 biolink:NamedThing coccygodynia Coccygodynia is a rare condition in that causes pain in and around the coccyx (tailbone). Although various causes have been described for the condition, the more commoncausesare direct falls and injury. tmpaxzxjjyw_mondo_relaxed.owl coccydynia GARD:0005168 https://rarediseases.info.nih.gov/diseases/5168/coccygodynia owl:Class MONDO:0015825 biolink:NamedThing obesity due to congenital leptin resistance tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:179490|ICD10:E66.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: genetic non-syndromic obesity' MONDO_0020075 owl:Class MONDO:0030038 biolink:NamedThing glaucoma, primary closed-angle tmpaxzxjjyw_mondo_relaxed.owl glaucoma, primary closed-angle|GLCC|GLAUCOMA, PRIMARY CLOSED-ANGLE OMIM:618880 owl:Class HGNC:3579 biolink:NamedThing FAH tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:60242 biolink:NamedThing monovalent inorganic cation An atom or small molecule with a positive charge that does not contain carbon in covalent linkage, with a valency of one. tmpaxzxjjyw_mondo_relaxed.owl a monovalent cation owl:Class FOODON:03460130 biolink:NamedThing physical/chemical modification process A food modification process where physical or chemical changes are effected in any food ingredient through a physical or non-enzymatic chemical process. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=H0130 owl:Class MONDO:0017857 biolink:NamedThing spina bifida-hypospadias syndrome Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:3176|ICD10:Q05.9|UMLS:CN203872 owl:Class MONDO:0019430 biolink:NamedThing X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-ataxia-apraxia syndrome is characterised by ataxia, apraxia, intellectual deficit and/or seizures. It has been described in nine males in two unrelated Danish families. It is transmitted as an X-linked recessive syndrome with partial clinical expression in obligate female carriers. tmpaxzxjjyw_mondo_relaxed.owl ICD10:G31.8|UMLS:CN227633|Orphanet:85338 owl:Class MONDO:0043085 biolink:NamedThing chromosome 1, uniparental disomy 1q12 q21 tmpaxzxjjyw_mondo_relaxed.owl uniparental disomy 1q12 q21|Mosaic trisomy 1q12 q21 UMLS:CN035970|MESH:C538085|GARD:0001878 owl:Class MONDO:0008613 biolink:NamedThing Tuftsin deficiency tmpaxzxjjyw_mondo_relaxed.owl Tuftsin deficiency UMLS:C0398741|OMIM:191150|ICD9:279.03|SCTID:234584007|MESH:C562872 owl:Class MONDO:0009904 biolink:NamedThing Gitelman syndrome Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. tmpaxzxjjyw_mondo_relaxed.owl hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|Gitelman's syndrome|familial hypokalemia-hypomagnesemia|Gitelman syndrome|primary renal tubular hypokalemic hypomagnesemia with hypocalciuria|Potassium and magnesium depletion|GTLMNS ICD9:275.49|Orphanet:358|NCIT:C84730|GARD:0008547|ICD10:N15.8|SCTID:707756004|MedDRA:10062906|OMIM:263800|MESH:D053579|UMLS:C0268450|DOID:0050450 https://rarediseases.info.nih.gov/diseases/8547/gitelman-syndrome owl:Class MONDO:0013780 biolink:NamedThing retinitis pigmentosa 63 A retinitis pigmentosa that has material basis in variation in the chromosome region 6q23. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 63|retinitis pigmentosa 63|RP63 OMIM:614494|UMLS:C3281002|ICD10:H35.5|Orphanet:791|DOID:0110385 owl:Class MONDO:0011201 biolink:NamedThing tremor, hereditary essential, 2 tmpaxzxjjyw_mondo_relaxed.owl tremor hereditary essential, 2|ETM2|tremor, hereditary essential, 2 GARD:0009500|OMIM:602134|DOID:0111429|MESH:C536546 owl:Class MONDO:0014683 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 tmpaxzxjjyw_mondo_relaxed.owl Walker-Warburg syndrome or muscle-eye brain disease, Dag1-related|MDDGA9|muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 UMLS:C4225291|Orphanet:899|Orphanet:370997|DOID:0111232|OMIM:616538 owl:Class NCBITaxon:29185 biolink:NamedThing Rotaliida tmpaxzxjjyw_mondo_relaxed.owl Rotaliina GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004269 biolink:NamedThing breast cystic hypersecretory carcinoma tmpaxzxjjyw_mondo_relaxed.owl cystic hypersecretory carcinoma of the breast|cystic hypersecretory duct carcinoma of the breast DOID:7537 owl:Class MONDO:0012491 biolink:NamedThing macroglobulinemia, Waldenstrom, 2 tmpaxzxjjyw_mondo_relaxed.owl WM2|macroglobulinemia, WALDENSTROM, susceptibility to, 2 OMIM:610430|Orphanet:33226 owl:Class MONDO:0019676 biolink:NamedThing brachydactyly type B A condition characterized by incomplete development (hypoplasia) or absence of the outermost bones of the fingers and toes (distal phalanges) and nails. Additional features may include hypoplasia of the middle phalanges, fusion of the joints (symphalangism), broad thumbs, and webbed fingers (syndactyly). The feet are often less severely affected than the hands. There are 2 types of this condition, designated as type 1 and 2. BDB type 1 is caused by mutations in the ROR2 gene. BDB type 2 is caused by mutations in the NOG gene. Inheritance of both types is autosomal dominant. Treatment may include surgery if the condition affects hand function, or for cosmetic reasons. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1300267|ICD10:Q73.8|OMIM:113000|Orphanet:93383|SCTID:389168002|GARD:0000985 https://github.com/monarch-initiative/mondo/issues/3709 owl:Class MONDO:0017639 biolink:NamedThing carbon monoxide-induced parkinsonism tmpaxzxjjyw_mondo_relaxed.owl CO-induced parkinsonism UMLS:C0393565|ICD10:G21.2|SCTID:230293003|Orphanet:306686 owl:Class MONDO:0010000 biolink:NamedThing rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction tmpaxzxjjyw_mondo_relaxed.owl rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM:268315|MESH:C564829|UMLS:C1849333 owl:Class MONDO:0020304 biolink:NamedThing isochromosomy Yp Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98797|SCTID:766708008|ICD10:Q98.6 owl:Class MONDO:0002044 biolink:NamedThing spastic ectropion tmpaxzxjjyw_mondo_relaxed.owl ICD9:374.13|SCTID:80846000|DOID:1571|UMLS:C0155195 owl:Class MONDO:0032788 biolink:NamedThing cerebellar atrophy with seizures and variable developmental delay tmpaxzxjjyw_mondo_relaxed.owl CASVDD|CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY OMIM:618501 owl:Class MONDO:0017787 biolink:NamedThing erythroderma desquamativum tmpaxzxjjyw_mondo_relaxed.owl erythroderma desquamativa of Leiner|Leiner disease|erythroderma desquamativum of infancy|generalized erythroderma, diarrhea, and failure to thrive|Leiner-Moussous desquamative erythroderma ICD10:L21.1|UMLS:CN203737|HGNC:1331|GARD:0002191|MESH:C535512|Orphanet:314 Editors note: check whether xref to HGNC:1331 is appropriate https://rarediseases.info.nih.gov/diseases/2191/erythroderma-desquamativa-of-leiner owl:Class MONDO:0017535 biolink:NamedThing central polydactyly of fingers, unilateral tmpaxzxjjyw_mondo_relaxed.owl mesoaxial polydactyly of fingers, unilateral|mirror hand, unilateral Orphanet:295171|ICD10:Q69.0 owl:Class MONDO:0004375 biolink:NamedThing end stage renal failure Long-standing and persistent renal disease with glomerular filtration rate (GFR) less than 15 ml/min. tmpaxzxjjyw_mondo_relaxed.owl ESRD, end stage renal disease|renal disease (ESRD), end stage|renal disease, end stage|end stage kidney disease|end stage renal disease (ESRD)|ESRD|end stage kidney failure|disease (ESRD), end stage renal|end stage renal disease|chronic kidney disease, stage 5 SCTID:46177005|NCIT:C9439|ICD9:585.6|DOID:783 owl:Class MONDO:0003479 biolink:NamedThing toxic pneumonitis A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. tmpaxzxjjyw_mondo_relaxed.owl acute chemical pulmonary edema|acute chemical fume pulmonary edema ICD9:506.9|UMLS:C3714582|DOID:551|SCTID:233733000 owl:Class MONDO:0022470 biolink:NamedThing aortic dissection lentiginosis A syndrome characterized by arterial dissections, multiple lentigines, and cystic medial necrosis. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000742 https://rarediseases.info.nih.gov/diseases/742/aortic-dissection-lentiginosis owl:Class MONDO:0044657 biolink:NamedThing MME-related autosomal dominant Charcot Marie Tooth disease type 2 tmpaxzxjjyw_mondo_relaxed.owl MME-related autosomal dominant CMT2|MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 Orphanet:497757|OMIM:617017 owl:Class MONDO:0033483 biolink:NamedThing erythrocytosis, familial, 5 Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene. tmpaxzxjjyw_mondo_relaxed.owl EPO familial polycythemia|familial polycythemia caused by mutation in EPO|ECYT5|erythrocytosis, familial, 5|familial erythrocytosis 5 UMLS:CN873435|DOID:0080290|OMIM:617907 owl:Class MONDO:0001144 biolink:NamedThing partial third-nerve palsy tmpaxzxjjyw_mondo_relaxed.owl partial third nerve palsy|third or oculomotor nerve palsy, partial|third nerve palsy with pupil sparing DOID:10864|MESH:D015840|SCTID:194118007|UMLS:C0271370|ICD9:378.51 owl:Class MONDO:0019085 biolink:NamedThing vernal keratoconjunctivitis Vernal keratoconjunctivitis (VKC) is a chronic, severe allergy that affectsthe surfaces of the eyes. It most commonly occurs in boys living in warm, dry climates. Attacks associated with VKC are common in the spring (hence the name 'vernal') and summer but often reoccur in the winter. Signs and symptoms usually begin before 10 years of age and may include hard, cobblestone-like bumps (papillae) on the upper eyelid; sensitivity to light; redness; sticky mucus discharge; andinvoluntary blinking or spasms of the eyelid (blepharospasm).The condition usually subsides at the onset of puberty. It is caused by ahypersensitivity (allergic reaction)to airborne-allergens. Management focuses on preventing 'flare ups' and relieving the symptoms of the condition. tmpaxzxjjyw_mondo_relaxed.owl VKC|Spring catarrh SCTID:317349009|Orphanet:70476|GARD:0007854|UMLS:C0022577|ICD10:H16.2 https://rarediseases.info.nih.gov/diseases/7854/vernal-keratoconjunctivitis owl:Class MONDO:0017057 biolink:NamedThing hereditary thrombocytopenia with normal platelets tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227073|ICD10:D69.4|OMIM:612004|OMIM:188000|OMIM:313900|Orphanet:268322|OMIM:273900 owl:Class HGNC:1810 biolink:NamedThing CDY2A tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000438 biolink:NamedThing luteinizing hormone secreting cell A peptide hormone secreting cell pituitary that produces luteinizing hormone. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0005610 biolink:NamedThing Kashin-Beck disease Disabling osteochondrodysplasia with osteosclerosis, cone-shaped metaphysis, and shortening of the diaphysis. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2745963|EFO:0006511|MESH:D057767|ICD9:716.08|SCTID:270505009|ICD9:716.00|ICD9:716.06 owl:Class NCBITaxon:4081 biolink:NamedThing Solanum lycopersicum tmpaxzxjjyw_mondo_relaxed.owl Lycopersicon esculentum var. esculentum|tomato|Solanum esculentum|Solanum lycopersicum var. humboldtii|Lycopersicon esculentum GC_ID:1 NCBITaxon:195582 ncbi_taxonomy owl:Class MONDO:0010704 biolink:NamedThing otopalatodigital syndrome type 1 Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. tmpaxzxjjyw_mondo_relaxed.owl otopalatodigital spectrum disorder|oto-palato-digital syndrome type 1|OPD1|OPD I syndrome|OPD 1 syndrome|OPD syndrome 1|Taybi syndrome|OPD syndrome|frontootopalatodigital osteodysplasia|otopalatodigital syndrome, type 1|otopalatodigital syndrome, type I ICD9:759.89|SCTID:54036001|DOID:0111783|Orphanet:90650|GARD:0005121|UMLS:C2748918|ICD10:Q87.0|Orphanet:669|NCIT:C118845|OMIM:311300 owl:Class MONDO:0010569 biolink:NamedThing X-linked complicated corpus callosum dysgenesis X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum. tmpaxzxjjyw_mondo_relaxed.owl X-linked partial agenesis of corpus callosum|X-linked complicated corpus callosum agenesis|corpus callosum, partial agenesis of, X-linked|X-linked partial corpus callosum agenesis UMLS:C1839909|GARD:0012526|ICD10:Q04.8|Orphanet:275543|MESH:C564115|Orphanet:1497|OMIM:304100 owl:Class MONDO:0007260 biolink:NamedThing Car factor deficiency tmpaxzxjjyw_mondo_relaxed.owl Car factor deficiency MESH:C566176|OMIM:114650|UMLS:C1861898 owl:Class NCBITaxon:85552 biolink:NamedThing Scylla paramamosain tmpaxzxjjyw_mondo_relaxed.owl green mud crab GC_ID:1 ncbi_taxonomy owl:Class HGNC:4944 biolink:NamedThing HLA-DQB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016994 biolink:NamedThing microcephalic osteodysplastic primordial dwarfism types I and III Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. tmpaxzxjjyw_mondo_relaxed.owl MOPD types I and III|Cephaloskeletal dysplasia|microcephalic osteodysplastic primordial dwarfism types 1 and 3|Taybi-Linder syndrome|osteodysplastic primordial dwarfism type I|primordial microcephalic dwarfism, Crachami type|low-birth-weight dwarfism with skeletal dysplasia|Brachymelic primordial dwarfism|MOPD 1|microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type|microcephalic osteodysplastic primordial dwarfism type 1 OMIM:210710|Orphanet:2636|ICD10:Q87.1|SCTID:725461009|GARD:0005120|UMLS:CN202308|OMIM:210730 https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1 owl:Class MONDO:0020463 biolink:NamedThing isolated congenital ectropion A congenital ectropion that is not part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl nonsyndromic congenital ectropion Orphanet:99171|ICD10:Q10.1 owl:Class HP:0002076 biolink:NamedThing Migraine Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. tmpaxzxjjyw_mondo_relaxed.owl Migraine|Migraine headaches|Migraine headache|Intermittent migraine headaches MSH:D008881|UMLS:C0149931|SNOMEDCT_US:37796009|UMLS:C0744641 HP:0007194 human_phenotype owl:Class HGNC:4012 biolink:NamedThing FUT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019544 biolink:NamedThing cocaine intoxication tmpaxzxjjyw_mondo_relaxed.owl Orphanet:90068|ICD9:292.89|ICD10:T40.5|SCTID:27956007 owl:Class MONDO:0015712 biolink:NamedThing non-distal trisomy 10q Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism. tmpaxzxjjyw_mondo_relaxed.owl non-telomeric trisomy 10q|non-distal duplication 10q|non-distal trisomy type 10q ICD10:Q92.3|Orphanet:1695 owl:Class MONDO:0013087 biolink:NamedThing bronchiectasis with or without elevated sweat chloride 2 Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene. tmpaxzxjjyw_mondo_relaxed.owl cystic fibrosis-like syndrome|SCNN1A bronchiectasis|bronchiectasis with or without elevated sweat chloride type 2|bronchiectasis caused by mutation in SCNN1A|BESC2|bronchiectasis with or without elevated sweat chloride 2 UMLS:C2751666|OMIM:613021|DOID:0080527|Orphanet:60033|MESH:C567813 owl:Class MONDO:0007372 biolink:NamedThing cornea plana 1, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl cornea plana 1|cornea plana 1, autosomal dominant|CNA1 OMIM:121400|UMLS:C1852557|MESH:C565158|Orphanet:53691 owl:Class UBERON:0010400 biolink:NamedThing spleen trabecular vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:243 biolink:NamedThing ADD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:147387 biolink:NamedThing Poeae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003731 biolink:NamedThing adult central nervous system teratoma A mature or immature teratoma affecting the central nervous system and occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl teratoma of the adult central nervous system|teratoma of the adult CNS|adult CNS teratoma|adult central nervous system teratoma|teratoma of adult central nervous system|central nervous system teratoma of adults|teratoma of adult CNS|Central nervous system teratoma DOID:6015|UMLS:C1370506|NCIT:C5794 owl:Class HGNC:14024 biolink:NamedThing PRY tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033546 biolink:NamedThing neurodegeneration, infantile-onset, biotin-responsive tmpaxzxjjyw_mondo_relaxed.owl NERIB|NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE|Sodium-Dependent Multivitamin Transporter Deficiency|Smvt Deficiency OMIM:618973 owl:Class MONDO:0021653 biolink:NamedThing cutaneous focal mucinosis tmpaxzxjjyw_mondo_relaxed.owl focal mucinosis|focal mucinoses ICD9:701.8|SCTID:110981005|UMLS:C0406659 owl:Class MONDO:0019082 biolink:NamedThing bullous pemphigoid Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis. tmpaxzxjjyw_mondo_relaxed.owl Parapemphigus|benign pemphigus|pemphigoid|bullous pemphigoid|Old Age pemphigus|Senile dermatitis herpetiformis ICD10:L12.0|GARD:0005972|UMLS:C0030805|ICD10:L12|DOID:8506|ICD10:L12.9|EFO:0007187|NCIT:C84389|Orphanet:703|SCTID:77090002|ICD9:694.5|MESH:D010391 owl:Class MONDO:0008775 biolink:NamedThing Amobarbital, deficient N-hydroxylation of tmpaxzxjjyw_mondo_relaxed.owl Amobarbital, deficient N-hydroxylation of OMIM:204800|UMLS:C1859816|MESH:C565959 owl:Class MONDO:0020273 biolink:NamedThing disease with potential neoplastic degeneration associated with ocular features tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98703|UMLS:CN207078 Reason: out of scope. This is obsolete in Orphanet and out of scope for Mondo.Term to consider: eye neoplasm' MONDO_0021220 owl:Class MONDO:0003302 biolink:NamedThing epithelioid neurofibroma A rare neurofibroma with epithelioid morphology. tmpaxzxjjyw_mondo_relaxed.owl epithelioid neurofibroma NCIT:C6558|SCTID:404032008|DOID:5149|ICD9:215.9|UMLS:C1275264 owl:Class MONDO:0022862 biolink:NamedThing cormier rustin munnich syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001523 https://rarediseases.info.nih.gov/diseases/1523/cormier-rustin-munnich-syndrome owl:Class MONDO:0060527 biolink:NamedThing maleylacetoacetate isomerase deficiency tmpaxzxjjyw_mondo_relaxed.owl MAAID|hypersuccinylacetonemia, mild|benign hypersuccinylacetonemia|MAAI deficiency|maleylacetoacetate isomerase deficiency OMIM:617596|UMLS:C1291607 owl:Class ENVO:00002202 biolink:NamedThing organically enriched sediment Chemically-enriched sediment which has increased levels of organic compounds. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006381 biolink:NamedThing plexiform ameloblastoma A histologic variant of solid/multicystic ameloblastoma characterized by the presence of basal cells forming anastomosing strands and cords in a delicate stroma. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0457529|NCIT:C39753|EFO:1000487 owl:Class MONDO:0011401 biolink:NamedThing Alzheimer disease without neurofibrillary tangles tmpaxzxjjyw_mondo_relaxed.owl Alzheimer's disease without neurofibrillary tangles|Alzheimer disease 15|Alzheimer disease without neurofibrillary tangles|AD15|Alzheimer's disease 15|Alzheimer's disease type 15 UMLS:C1970143|DOID:0110048|UMLS:C1858751|OMIM:611155|GARD:0007190|MESH:C566998|OMIM:604154|MESH:C536599|ICD10:G30 owl:Class MONDO:0004894 biolink:NamedThing cyclotropia tmpaxzxjjyw_mondo_relaxed.owl ICD9:378.33|UMLS:C0152209|DOID:9838|SCTID:70486007|ICD10:H50.41 owl:Class MONDO:0007499 biolink:NamedThing ear folding tmpaxzxjjyw_mondo_relaxed.owl ear folding OMIM:128500 owl:Class MONDO:0010209 biolink:NamedThing xanthinuria type I A rare autosomal recessive disorder of purine metabolism characterized by the isolated deficiency of xanthine dehydrogenase, causing hyperxanthinemia with low or absent uric acid and xanthinuria, leading to urolithiasis, hematuria, renal colic and urinary tract infections, while some patients are asymptomatic and others suffer from kidney failure. Less common manifestations include arthropathy, myopathy and duodenal ulcer. tmpaxzxjjyw_mondo_relaxed.owl XOR deficiency|XO deficiency|isolated xanthine oxidase deficiency|xanthine dehydrogenase deficiency|type 1 xanthinuria|xanthinuria type I|xanthinuria, type 1|XDH deficiency|xanthine oxidase deficiency|hereditary xanthinuria, type I|XAN1|xanthine oxidoreductase deficiency|xanthinuria, type I|xanthinuria type 1 SCTID:72682008|ICD10:E79.8|OMIM:278300|MESH:C562584|GARD:0005621|Orphanet:3467|Orphanet:93601 owl:Class MONDO:0022699 biolink:NamedThing cerebral palsy spastic hemiplegic tmpaxzxjjyw_mondo_relaxed.owl spastic hemiplegic cerebral palsy|spastic hemiplegia cerebral palsy GARD:0010448 https://rarediseases.info.nih.gov/diseases/10448/cerebral-palsy-spastic-hemiplegic owl:Class MONDO:0012221 biolink:NamedThing alpha-N-acetylgalactosaminidase deficiency type 1 Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency characterized by infantile neuroaxonal dystrophy. tmpaxzxjjyw_mondo_relaxed.owl N-acetyl-alpha-D-galactosaminidase deficiency type III|alpha-N-acetylgalactosaminidase deficiency, type 1|Schindler disease, type I|Alpha-N-acetylgalactosaminidase deficiency, type 1|Schindler disease, type 1|Schindler disease type 1|NAGA deficiency, type 1|neuroaxonal dystrophy, Schindler type|Alpha-N-acetylgalactosaminidase deficiency, type 3|Schindler disease, type 3|NAGA deficiency, type 3|Schindler disease type I|NAGA deficiency type 1 Orphanet:79281|UMLS:C1836545|Orphanet:79279|GARD:0000116|OMIM:609241|Orphanet:3137|ICD10:E77.1|GARD:0003903 owl:Class MONDO:0022896 biolink:NamedThing craniosynostosis contractures cleft tmpaxzxjjyw_mondo_relaxed.owl GARD:0001591 https://rarediseases.info.nih.gov/diseases/1591/craniosynostosis-contractures-cleft owl:Class MONDO:0000935 biolink:NamedThing larynx squamous papilloma A benign exophytic neoplasm that arises from the larynx, usually the true vocal cords. It is related to human papillomavirus infection and may arise as a single or multiple lesions. It is characterized by the presence of a connective tissue core covered by stratified squamous epithelium. Hoarseness is the presenting symptom. Transformation to carcinoma is rare. tmpaxzxjjyw_mondo_relaxed.owl squamous papilloma of the larynx|laryngeal papilloma|papilloma of the larynx|squamous papilloma of larynx|papilloma of larynx|larynx squamous papilloma|larynx papilloma NCIT:C7742|UMLS:C0240164|DOID:10071 owl:Class MONDO:0001255 biolink:NamedThing ventilation pneumonitis An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. tmpaxzxjjyw_mondo_relaxed.owl humidifiers lung|ventilation systems lung|humidifier lung|Air-conditioner and humidifier lung SCTID:195990006|UMLS:C0155891|DOID:11289|ICD10:J67.7|ICD9:495.7 owl:Class MONDO:0008985 biolink:NamedThing ciliary dyskinesia with transposition of ciliary microtubules tmpaxzxjjyw_mondo_relaxed.owl ciliary dyskinesia with transposition of ciliary microtubules|ciliary dyskinesia, due to transposition of ciliary microtubules GARD:0001361|UMLS:C2673817|Orphanet:244|MESH:C567137|OMIM:215520 owl:Class MONDO:0009936 biolink:NamedThing familial primary pulmonary hypoplasia Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life. tmpaxzxjjyw_mondo_relaxed.owl primary pulmonary hypoplasia|pulmonary hypoplasia, primary|lung agenesis OMIM:265430|UMLS:CN226916|ICD9:748.5|ICD10:Q33.6|SCTID:277656005|Orphanet:2257 owl:Class MONDO:0006634 biolink:NamedThing pituitary gland acidophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic dyes. tmpaxzxjjyw_mondo_relaxed.owl pituitary gland acidophil adenoma|acidophil adenoma|eosinophil adenoma EFO:1000791|MESH:D000239|ICDO:8280/0|NCIT:C6780|UMLS:C0001433|DOID:5392 owl:Class MONDO:0010324 biolink:NamedThing intellectual disability, X-linked 81 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked 81|MRX81|mental retardation, X-linked 81 OMIM:300433|MESH:C564515|UMLS:C1845531 owl:Class MONDO:0012991 biolink:NamedThing Kahrizi syndrome An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, cataract, coloboma, and kyphosis, autosomal recessive|Kahrizi syndrome|KHRZ|mental retardation, cataract, coloboma, and kyphosis, autosomal recessive UMLS:C2675185|Orphanet:168972|UMLS:CN200191|MESH:C567196|DOID:0050807|OMIM:612713 owl:Class UBERON:0015476 biolink:NamedThing nose skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004856 biolink:NamedThing rosacea conjunctivitis tmpaxzxjjyw_mondo_relaxed.owl DOID:9709|SCTID:10128002|ICD9:372.31|UMLS:C0155152 owl:Class MONDO:0020391 biolink:NamedThing pulmonary artery coming from the aorta Pulmonary artery coming from the aorta (PACA) is a cardiac malformation characterized by anomalous origin of one branch of the pulmonary arteries from the ascending aorta and a normal origin of the other pulmonary artery from the right ventricular outflow tract, and presenting with respiratory distress, congestive heart failure and failure to thrive within the first days/months of life. tmpaxzxjjyw_mondo_relaxed.owl hemitruncus arteriosus|abnormal origin of right or left pulmonary artery from the aorta Orphanet:99050|GARD:0004586|ICD10:Q25.7 https://rarediseases.info.nih.gov/diseases/4586/pulmonary-artery-coming-from-the-aorta owl:Class MONDO:0016190 biolink:NamedThing qualitative or quantitative defects of protein ZASP tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209050 owl:Class HGNC:25781 biolink:NamedThing ARMC5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009969 biolink:NamedThing renal-genital-middle ear anomalies tmpaxzxjjyw_mondo_relaxed.owl renal genital middle ear anomalies|renal, genital, and middle EAR anomalies UMLS:C1849432|ICD10:Q87.8|GARD:0004664|Orphanet:1092|MESH:C564849|OMIM:267400 https://rarediseases.info.nih.gov/diseases/4664/renal-genital-middle-ear-anomalies owl:Class MONDO:0010553 biolink:NamedThing Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined UMLS:C1844863|OMIM:302900|MESH:C564446 owl:Class MONDO:0001798 biolink:NamedThing hypermobility syndrome tmpaxzxjjyw_mondo_relaxed.owl benign joint hypermobility ICD10:M35.7|UMLS:C0152093|ICD9:728.5|SCTID:85551004|DOID:13781 owl:Class MONDO:0008541 biolink:NamedThing spermatic cord torsion An emergency condition caused by the twisting of the spermatic cord which contains the vessels that provide the blood supply to the testis and surrounding structures. It manifests with acute testicular pain. If immediate medical assistance is not provided, it will lead to necrosis and loss of the testicular tissue. tmpaxzxjjyw_mondo_relaxed.owl testicular torsion|torsion of testicular cord|torsion of testicle|torsion of testis ICD9:608.20|ICD10:N44.0|NCIT:C26885|MESH:D013086|SCTID:81996005|ICD10:N44.00|ICD9:608.2|UMLS:C0037856|OMIM:187400|DOID:11996|ICD10:N44.02 owl:Class MONDO:0004368 biolink:NamedThing sphenoorbital meningioma A meningioma that affects the sphenoorbital region. tmpaxzxjjyw_mondo_relaxed.owl DOID:7819|UMLS:C1336040|NCIT:C5285 owl:Class MONDO:0037939 biolink:NamedThing porphyria Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS. tmpaxzxjjyw_mondo_relaxed.owl porphyria SCTID:418470004 Represents both genetic and sporadic forms owl:Class MONDO:0018337 biolink:NamedThing severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:397593|ICD10:E88.8|OMIM:615595 owl:Class MONDO:0004381 biolink:NamedThing pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia A non-invasive pancreatic intraductal papillary mucinous neoplasm characterized by the presence of neoplastic epithelial cells that form a single layer and are well polarized. The neoplastic cells exhibit small and uniform nuclei, mild pleomorphism, and rare mitotic figures. tmpaxzxjjyw_mondo_relaxed.owl pancreatic intraductal papillary-mucinous neoplasm with Low grade dysplasia|pancreatic intraductal papillary mucinous neoplasm with Low grade dysplasia|pancreatic intraductal papillary-mucinous adenoma UMLS:C1518868|DOID:7851|SCTID:473418001|NCIT:C41249|ICDO:8453/0 owl:Class MONDO:0011081 biolink:NamedThing dislocation of the hip-dysmorphism syndrome Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995. tmpaxzxjjyw_mondo_relaxed.owl Collins Pope syndrome|dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism|Collins-Pope syndrome|dislocation of the hip dysmorphism|hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism GARD:0001428|MESH:C563315|SCTID:763755009|Orphanet:2412|OMIM:601450|ICD10:Q87.2|UMLS:C1832353 https://rarediseases.info.nih.gov/diseases/1428/collins-pope-syndrome owl:Class MONDO:0014185 biolink:NamedThing chromosome 3q13.31 deletion syndrome 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. tmpaxzxjjyw_mondo_relaxed.owl chromosome 3q13.31 deletion syndrome|monosomy 3q13|3q13 microdeletion syndrome|Del(3)(q13) Orphanet:1621|OMIM:615433|UMLS:C3809490|DOID:0060418|MESH:C536808|SCTID:726705007|ICD10:Q93.5|UMLS:CN036884 owl:Class CL:2000073 biolink:NamedThing migratory cardiac neural crest cell Any migratory neural crest cell that is part of a cardiac neural crest. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-11-05T01:18:43Z cell owl:Class MONDO:0018136 biolink:NamedThing minimal pigment oculocutaneous albinism type 1 Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi. tmpaxzxjjyw_mondo_relaxed.owl MP OCA type 1|OCA1-MP SCTID:237919007|Orphanet:352734|UMLS:CN204521|ICD10:E70.3|ICD9:270.2 owl:Class NCIT:C68748 biolink:NamedThing HER2/Neu Positive tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2433 biolink:NamedThing CSF1R tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:16406 biolink:NamedThing EFHC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:90710 biolink:NamedThing receptor modulator A drug that acts as an antagonist, agonist, reverse agonist, or in some other fashion when interacting with cellular receptors. tmpaxzxjjyw_mondo_relaxed.owl receptor modulators owl:Class MONDO:0031001 biolink:NamedThing vitreoretinopathy with phalangeal epiphyseal dysplasia tmpaxzxjjyw_mondo_relaxed.owl VPED OMIM:619248 owl:Class MONDO:0017217 biolink:NamedThing visceral calciphylaxis Visceral calciphylaxis is a rare, life-threatening, non-inflammatory vasculopathy disorder characterized by diffuse precipitation of calcium in viscera (mainly in the heart or lungs, but also in the stomach or kidneys) leading to fibrosis and thrombosis, which eventually cause necrotic ulcerations of the tissue. Patients may present with dyspnea, cough and respiratory failure or acute heart block and subsequent sudden cardiac death, depending on the affected organ. The disease mainly affects patients on dialysis or patients having undergone renal transplantation. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:280068|ICD10:E83.5 owl:Class MONDO:0008142 biolink:NamedThing Thiemann disease, familial form Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course. tmpaxzxjjyw_mondo_relaxed.owl Thiemann's disease|osteochondritis of phalangeal epiphyses|osteoarthropathy of fingers familial|Osteochondrosis of phalangeal epiphyses|aseptic necrosis of phalangeal epiphyses|osteoarthropathy of fingers, familial|THIEMANN disease|Thiemann epiphyseal disease ICD10:M93.2|MESH:C537144|ICD9:716.84|SCTID:55166000|Orphanet:3314|OMIM:165700|GARD:0004131|UMLS:C0264081 owl:Class MONDO:0018380 biolink:NamedThing idiopathic avascular necrosis tmpaxzxjjyw_mondo_relaxed.owl idiopathic AVN ICD10:M87.0|Orphanet:399307 owl:Class MONDO:0013752 biolink:NamedThing hypoplastic left heart syndrome 2 Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the NKX2-5 gene. tmpaxzxjjyw_mondo_relaxed.owl hypoplastic left heart syndrome caused by mutation in NKX2-5|hypoplastic left heart syndrome 2|hypoplastic left heart syndrome type 2|NKX2-5 hypoplastic left heart syndrome|HLHS2 MedDRA:10021076|UMLS:C3280795|Orphanet:2248|MESH:D018636|ICD10:Q23.4|OMIM:614435 owl:Class MONDO:0023255 biolink:NamedThing glossopalatine ankylosis micrognathia ear anomalies tmpaxzxjjyw_mondo_relaxed.owl GARD:0002495 https://rarediseases.info.nih.gov/diseases/2495/glossopalatine-ankylosis-micrognathia-ear-anomalies owl:Class HP:0010911 biolink:NamedThing Hyperleucinemia An increased concentration of leucine in the blood. tmpaxzxjjyw_mondo_relaxed.owl High blood leucine concentration SNOMEDCT_US:24013007|UMLS:C0268576 Normal leucine blood levels are around 120-160 micromole per liter. peter 2010-12-08T08:45:56Z human_phenotype owl:Class HP:0004357 biolink:NamedThing Abnormal circulating leucine concentration Any deviation from the normal circulation of leucine in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025341 peter 2008-03-17T03:02:00Z human_phenotype owl:Class HGNC:18365 biolink:NamedThing IFNL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018085 biolink:NamedThing umbilical cord ulceration-intestinal atresia syndrome Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage. tmpaxzxjjyw_mondo_relaxed.owl umbilical cord ulceration and intestinal atresia|umbilical ulceration and intestinal atresia|umbilical cord ulcer with intestinal atresia GARD:0005403|Orphanet:3405|MESH:C536938|UMLS:C2931371 owl:Class MONDO:0016572 biolink:NamedThing central bilateral macrogyria Central bilateral macrogyria is a neuronal migration disorder characterised by pseudobulbar palsy, developmental delay, mild mental retardation and epilepsy. It has been described in at least four children. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4303949|Orphanet:2431|ICD10:Q04.8|SCTID:720632004 owl:Class MONDO:0017810 biolink:NamedThing variant ABeta2M amyloidosis A rare form of amyloidosis characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant beta2-microglobulinic amyloidosis ICD10:E85.1|UMLS:C4302669|SCTID:722292000|Orphanet:314652|UMLS:CN203779 owl:Class UBERON:0015860 biolink:NamedThing visceral abdominal lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19185 biolink:NamedThing FRAS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016574 biolink:NamedThing hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterised by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl macules, hereditary congenital hypopigmented and hyperpigmented|hereditary congenital hypopigmented and hyperpigmented macules|congenital hypomelanotic and hypermelanotic macules|Westerhof-Beemer-Cormane syndrome|macules hereditary congenital hypopigmented and hyperpigmented|Westerhof Beemer Cormane syndrome Orphanet:2435|GARD:0003347|UMLS:C1835172|SCTID:733469003|MESH:C537836 https://rarediseases.info.nih.gov/diseases/3347/macules-hereditary-congenital-hypopigmented-and-hyperpigmented owl:Class MONDO:0030316 biolink:NamedThing lymphatic malformation 11 tmpaxzxjjyw_mondo_relaxed.owl LMPHM11|lymphatic malformation 11 OMIM:619401 owl:Class MONDO:0008525 biolink:NamedThing syringomyelia, isolated tmpaxzxjjyw_mondo_relaxed.owl syringomyelia, noncommunicating isolated|syringomyelia, isolated OMIM:186700|Orphanet:3280|MESH:C566084 owl:Class MONDO:0020508 biolink:NamedThing primary syringomyelia tmpaxzxjjyw_mondo_relaxed.owl congenital syringomyelia UMLS:C0039144|SCTID:371076006|UMLS:C1299627|Orphanet:99856|ICD10:Q06.4 owl:Class MONDO:0018552 biolink:NamedThing urachal sinus Urachal sinus is a type of congenital urachal anomaly resulting from the failure of the umbilical end of the urachus to close, without continuity to the bladder, and that is usually asymptomatic but can present with continuous cloudy umbilical discharge, tender midline infraumbilical mass and fever when infected. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:431344|ICD10:Q64.4|SCTID:451030007|UMLS:CN237553 owl:Class MONDO:0004322 biolink:NamedThing non-gestational ovarian choriocarcinoma A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma. tmpaxzxjjyw_mondo_relaxed.owl DOID:7665|NCIT:C39991|UMLS:C1518355 owl:Class MONDO:0020400 biolink:NamedThing congenital supravalvular mitral ring Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99059|ICD10:Q23.2 owl:Class UBERON:0018151 biolink:NamedThing skin of upper lip tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017767 biolink:NamedThing rheumatic fever A post-bacterial multisystem inflammatory disease occurring as a post-infectious, nonsuppurative sequela of untreated streptococcus pyogenes (Group A streptococcus [GAS]) pharyngitis, and mainly occurs in individuals aged 5 to 15 years. The most common presenting signs are fever, migratory polyarthritis and carditis. tmpaxzxjjyw_mondo_relaxed.owl inflammatory rheumatism|acute rheumatic fever|ARF|RHF - rheumatic fever UMLS:C0035436|ICD10:I01.2|ICD10:I00|ICD10:I00-I02|ICD9:390|NCIT:C34984|SCTID:58718002|GARD:0005699|MESH:D012213|ICD10:I01.0|ICD10:I01.9|OMIM:268240|EFO:1001160|MedDRA:10039054|ICD10:I01.1|DOID:1586|ICD9:390-392.99|ICD10:I01.8|Orphanet:3099 https://rarediseases.info.nih.gov/diseases/5699/rheumatic-fever owl:Class HGNC:14378 biolink:NamedThing NOP10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100113 biolink:NamedThing hearing loss with skin disease Nonsyndromic deafness, keratitis-ichthyosis-deafness syndrome, and palmoplantar keratoderma with deafness have all been associated with autosomal dominant variants in GJB2. Reported cases share hearing loss as a feature, therefore it is likely that these phenotypes exist along a spectrum of the same disease, differing in severity of skin phenotypes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003482 biolink:NamedThing Pediculus humanus corporis infestation A infectious disease involving the Pediculus humanus corporis. tmpaxzxjjyw_mondo_relaxed.owl Pediculus humanus infestation|Pediculus corporis [body louse]|Pediculus humanus corporis infection|body louse infestation|infections, Pediculus humanus corporis|Pediculus corporis UMLS:C0030758|ICD9:132.1|SCTID:25188002|DOID:5513|ICD10:B85.1 owl:Class MONDO:0006767 biolink:NamedThing gastric antral vascular ectasia Dilatation of the vessels in the antrum of the stomach. It is associated with portal hypertension, scleroderma, and chronic renal failure. It may cause gastric bleeding. tmpaxzxjjyw_mondo_relaxed.owl watermelon stomach|gave DOID:2493|SCTID:43935004|MESH:D020252|GARD:0007877|MedDRA:10051585|EFO:1000945|NCIT:C84724 owl:Class UBERON:0039261 biolink:NamedThing pancreatic artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000256 biolink:NamedThing Macrocephaly Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. tmpaxzxjjyw_mondo_relaxed.owl Megacephaly|Large skull|Large calvaria|Big cranium|Big skull|Increased size of head|Large cranium|Big calvaria|Increased size of skull|Large head circumference|Big head|Macrocrania|Increased size of cranium|Large head Fyler:4335|UMLS:C4280664|UMLS:C4280663|UMLS:C4255213|UMLS:C4083076 Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. HP:0005491|HP:0200135|HP:0005496 human_phenotype owl:Class HGNC:1952 biolink:NamedThing CHRM3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007550 biolink:NamedThing epidermolysis bullosa simplex Dowling-Meara type Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration. tmpaxzxjjyw_mondo_relaxed.owl EBS, generalized severe|EBS-DM|EBSDM|generalized severe epidermolysis bullosa simplex|epidermolysis bullosa simplex, herpetiformis|epidermolysis bullosa simplex, Dowling-Meara type|EBS-gen sev|epidermolysis bullosa simplex, generalized severe|Dowling-Meara type epidermolysis bullosa simplex|epidermolysis bullosa herpetiformis, Dowling-Meara type|epidermolysis bullosa herpetiformis Dowling-Meara type ICD10:Q81.0|ICD9:771.2|GARD:0002141|SCTID:254179000|DOID:0060735|OMIM:131760|Orphanet:79396 https://rarediseases.info.nih.gov/diseases/2141/epidermolysis-bullosa-simplex-dowling-meara-type owl:Class NCBITaxon:2509511 biolink:NamedThing Sarbecovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5583 biolink:NamedThing Exophiala tmpaxzxjjyw_mondo_relaxed.owl Wangiella|Nadsoniella GC_ID:1 NCBITaxon:108021|NCBITaxon:52865 ncbi_taxonomy owl:Class GO:0008374 biolink:NamedThing O-acyltransferase activity Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21082 biolink:NamedThing SEC63 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18194 biolink:NamedThing ZNF365 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:47570 biolink:NamedThing Schizotrypanum tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5690 biolink:NamedThing Trypanosoma tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0033556 biolink:NamedThing muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15 tmpaxzxjjyw_mondo_relaxed.owl MDDGB15|Muscular Dystrophy, Congenital, Dpm3-Related|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 OMIM:618992 owl:Class MONDO:0020748 biolink:NamedThing sitosterolemia 2 tmpaxzxjjyw_mondo_relaxed.owl STSL2 OMIM:618666 owl:Class MONDO:0006744 biolink:NamedThing endolymphatic hydrops An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo. tmpaxzxjjyw_mondo_relaxed.owl labyrinthine hydrops ICD10:H81.0|EFO:1000918|MedDRA:10049934|DOID:9848|MESH:D018159|UMLS:C0206586|SCTID:27621000119100|ICD9:386.8 owl:Class MONDO:0030991 biolink:NamedThing bile acid conjugation defect 1 tmpaxzxjjyw_mondo_relaxed.owl BACD1 OMIM:619232 owl:Class MONDO:0004320 biolink:NamedThing adult infiltrating astrocytic neoplasm tmpaxzxjjyw_mondo_relaxed.owl adult infiltrating astrocytic neoplasm|adult infiltrating astrocytic tumor|adult infiltrating astrocytoma DOID:7656|NCIT:C8289|UMLS:C0281329 owl:Class HP:0001376 biolink:NamedThing Limitation of joint mobility A reduction in the freedom of movement of one or more joints. tmpaxzxjjyw_mondo_relaxed.owl Limitation of joint mobility|Limited joint mobility|Limited joint motion|Decreased joint mobility|Decreased mobility of joints UMLS:C1857108 HP:0003101 human_phenotype owl:Class MONDO:0034846 biolink:NamedThing primary desmosis coli A rare intestinal disease characterized by congenital partial or complete lack of the collagen mesh network in the intestinal wall, resulting in hypoperistalsis or aperistalsis. The enteric nervous system is normal or near-normal in the affected areas, although hypo- and dysganglionosis may be found in some proximal segments of the colon and/or small bowel. Patients present with chronic intractable slow transit constipation. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:565641|ICD10:K59.9 owl:Class MONDO:0044763 biolink:NamedThing diarrheal disease secondary to decreased bowel motility A diarrhea that results from decreased motility in the bowel; the resultant bowel stasis encourages bacterial overgrowth and subsequent bile salt deconjugation. Diarrhea is then the direct result of fat malabsorption and increased colonic secretion. tmpaxzxjjyw_mondo_relaxed.owl diarrhea from decreased bowel motility owl:Class HGNC:7873 biolink:NamedThing NOS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012270 biolink:NamedThing Tukel syndrome tmpaxzxjjyw_mondo_relaxed.owl congenital extraocular muscle fibrosis with ulnar hand anomalies|Tukel syndrome|fibrosis of extraocular muscles, congenital, with ulnar hand anomalies|Cfeom-U|fibrosis of extraocular muscles, congenital, 4 UMLS:C1836217|GARD:0009814|Orphanet:45358|OMIM:609428 owl:Class MONDO:0010486 biolink:NamedThing Olmsted syndrome, X-linked tmpaxzxjjyw_mondo_relaxed.owl palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked|Olmsted syndrome, X-linked Orphanet:659|UMLS:C3806745|OMIM:300918 owl:Class MONDO:0008365 biolink:NamedThing recombinant 8 syndrome Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl San Luis Valley recombinant chromosome 8 syndrome|Rec(8) syndrome|Recombinant chromosome 8 syndrome|Duplication 8q/deletion 8p|San Luis Valley syndrome|Rec8 syndrome|RECOMBINANT chromosome 8 syndrome|chromosome 8Q22.1-qter Duplication and 8Pter-p23.1 deletion GARD:0009698|ICD10:Q99.8|MESH:C535296|SCTID:718189004|OMIM:179613|UMLS:C0795822|Orphanet:96167 owl:Class MONDO:0006920 biolink:NamedThing prediabetes syndrome A condition in which blood glucose levels are high, but not high enough to be classified as type 2 diabetes. tmpaxzxjjyw_mondo_relaxed.owl prediabetic state|prediabetes|borderline diabetes NCIT:C122685|EFO:1001121|MESH:D011236|MedDRA:10065542|UMLS:C0362046|DOID:11716|ICD10:R73.09 owl:Class MONDO:0012990 biolink:NamedThing Leber congenital amaurosis 13 Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 53|Leber congenital amaurosis type 13|Leber congenital amaurosis caused by mutation in RDH12|Leber congenital amaurosis 13|RDH12 Leber congenital amaurosis|LCA13 OMIM:612712|MESH:C567197|ICD10:H35.5|GARD:0010882|UMLS:C2675186|DOID:0110330 https://rarediseases.info.nih.gov/diseases/10882/leber-congenital-amaurosis-13 owl:Class GO:0008172 biolink:NamedThing S-methyltransferase activity Catalysis of the transfer of a methyl group to the sulfur atom of an acceptor molecule. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006897 biolink:NamedThing periapical granuloma Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment. tmpaxzxjjyw_mondo_relaxed.owl periapical granuloma|apical granuloma SCTID:81407003|DOID:4617|UMLS:C0031029|EFO:1001096|MESH:D010484|MedDRA:10060985 owl:Class MONDO:0009555 biolink:NamedThing malocclusion and short stature tmpaxzxjjyw_mondo_relaxed.owl malocclusion and short stature UMLS:C1855453|OMIM:248350|MESH:C565421 owl:Class UBERON:0030276 biolink:NamedThing lumbar spinal cord ventral horn tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019762 biolink:NamedThing laryngotracheoesophageal cleft type 2 Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections. tmpaxzxjjyw_mondo_relaxed.owl LTEC II|laryngo-tracheo-esophageal cleft type 2|LTEC2 UMLS:CN206697|Orphanet:93939|ICD10:Q32.1 owl:Class UBERON:0014791 biolink:NamedThing musculature of forelimb stylopod tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0010995 biolink:NamedThing Abnormal circulating dicarboxylic acid concentration Any deviation from the normal concentration of a dicarboxylic acid in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023606 A dicarboxylic acid is an oxoacid containing two carboxy groups. peter 2011-02-10T02:01:02Z human_phenotype owl:Class MONDO:0002152 biolink:NamedThing intermittent squint tmpaxzxjjyw_mondo_relaxed.owl intermittent heterotropia UMLS:C0152210|DOID:1942|ICD9:378.20|ICD10:H50.3|ICD9:378.2|ICD10:H50.30|SCTID:74025007 owl:Class HGNC:9988 biolink:NamedThing RFXAP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007413 biolink:NamedThing Cyprus facial-neuromusculoskeletal syndrome Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects. tmpaxzxjjyw_mondo_relaxed.owl CYPRUS facial neuromusculoskeletal syndrome|unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects SCTID:732261005|UMLS:C1852396|ICD10:Q87.8|MESH:C536229|GARD:0009487|OMIM:123853|Orphanet:2674 https://rarediseases.info.nih.gov/diseases/9487/cyprus-facial-neuromusculoskeletal-syndrome owl:Class MONDO:0004405 biolink:NamedThing Barrett adenocarcinoma An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas. -- 2002 tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma arising in Barrett's mucosa|Barrett adenocarcinoma|Barrett's adenocarcinoma DOID:7941|UMLS:C1332460|NCIT:C7027|EFO:1001939|SCTID:721617001 owl:Class MONDO:0019314 biolink:NamedThing cutaneous mastocytoma Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin. tmpaxzxjjyw_mondo_relaxed.owl cutaneous local mastocytoma|multiple mastocytoma|solitary mastocytoma ICD10:Q82.2|GARD:0012687|Orphanet:79455 owl:Class MONDO:0003121 biolink:NamedThing middle cranial fossa meningioma A meningioma that affects the middle cranial fossa. tmpaxzxjjyw_mondo_relaxed.owl meningioma (disease) of middle cranial fossa|meningioma of middle cranial fossa|middle cranial fossa meningioma (disease)|meningioma of the middle cranial fossa UMLS:C1334757|NCIT:C5586|DOID:4749 owl:Class MONDO:0010147 biolink:NamedThing tongue, pigmented fungiform papillae of tmpaxzxjjyw_mondo_relaxed.owl tongue, pigmented fungiform papillae of UMLS:C1848756|OMIM:275250 owl:Class MONDO:0011677 biolink:NamedThing Megarbane syndrome tmpaxzxjjyw_mondo_relaxed.owl short stature, abnormal face, joint laxity, hernias, delayed bone age, and severe psychomotor retardation|Megarbane syndrome GARD:0009979|OMIM:606527|MESH:C536145|UMLS:C1847871 https://rarediseases.info.nih.gov/diseases/9979/megarbane-syndrome owl:Class MONDO:0004762 biolink:NamedThing Taylor syndrome tmpaxzxjjyw_mondo_relaxed.owl congestion-fibrosis syndrome|Taylor's syndrome|pelvic congestion syndrome ICD9:625.5|UMLS:C0152078|DOID:9346|SCTID:39402007 owl:Class HGNC:14432 biolink:NamedThing TMEM237 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009944 biolink:NamedThing pyloric atresia tmpaxzxjjyw_mondo_relaxed.owl pyloric atresia OMIM:265950|MESH:C562561|ICD9:750.7|SCTID:27729002 owl:Class MONDO:0024813 biolink:NamedThing pulmonary sulcus neoplasm A neoplasm originating from the apical lung. Most superior sulcus neoplasms are bronchogenic carcinomas. This tumor may be associated with Pancoast syndrome. It is also known as Pancoast tumor. tmpaxzxjjyw_mondo_relaxed.owl pulmonary sulcus neoplasm|pulmonary sulcus tumor NCIT:C27710 owl:Class MONDO:0006122 biolink:NamedThing calcifying nested epithelial stromal tumor of the liver A rare malignant tumor that arises from the liver and occurs in children. It is characterized by the presence of nested epithelioid and spindle cells. Desmoplasia, calcifications, and bone formation may also be present. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96830|ICDO:8975/1|EFO:1000149|UMLS:C3273067 owl:Class MONDO:0019839 biolink:NamedThing panhypophysitis tmpaxzxjjyw_mondo_relaxed.owl Infundibulo-panhypophysitis ICD10:E23.6|Orphanet:95513 owl:Class MONDO:0004494 biolink:NamedThing testicular yolk sac tumor, hepatoid pattern A yolk sac tumor that arises from the testis and is characterized by the presence of hepatoid cells collections. tmpaxzxjjyw_mondo_relaxed.owl testicular yolk sac tumor, hepatoid pattern|hepatoid pattern testicular yolk sac tumor UMLS:C1515306|DOID:8195|NCIT:C39931 owl:Class HGNC:27962 biolink:NamedThing STING1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010813 biolink:NamedThing pancreatic beta cell agenesis with neonatal diabetes mellitus tmpaxzxjjyw_mondo_relaxed.owl pancreatic beta cell agenesis with neonatal diabetes mellitus MESH:C538111|OMIM:600089|UMLS:C1838655|Orphanet:28455 owl:Class MONDO:0023067 biolink:NamedThing endemic Kaposi sarcoma tmpaxzxjjyw_mondo_relaxed.owl African Kaposi sarcoma|African/endemic Kaposi sarcoma GARD:0010431 https://rarediseases.info.nih.gov/diseases/10431/endemic-kaposi-sarcoma owl:Class MONDO:0001943 biolink:NamedThing Plasmodium malariae malaria Malaria resulting from infection by Plasmodium malariae. tmpaxzxjjyw_mondo_relaxed.owl malaria by Plasmodium malariae|quartan malaria ICD10:B52|ICD10:B52.9|ICD9:084.2|UMLS:C0024536|DOID:14324|SCTID:27618009|NCIT:C34799 owl:Class MONDO:0012129 biolink:NamedThing leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema tmpaxzxjjyw_mondo_relaxed.owl LACH|leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema MESH:C563852|GARD:0010065|OMIM:608809|UMLS:C1837329 https://rarediseases.info.nih.gov/diseases/10065/leukoencephalopathy-arthritis-colitis-and-hypogammaglobulinema owl:Class GO:0001838 biolink:NamedThing embryonic epithelial tube formation The morphogenesis of an embryonic epithelium into a tube-shaped structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012464 biolink:NamedThing cloacal vent tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010772 biolink:NamedThing Leber optic atrophy and dystonia tmpaxzxjjyw_mondo_relaxed.owl Marsden syndrome|Leber Hereditary optic neuropathy with dystonia|dystonia familial, with visual failure and striatal lucencies|LHON and dystonia|LDYT|dystonia, familial, with visual failure and striatal lucencies|Leber's hereditary optic neuropathy with dystonia|Leber optic atrophy and dystonia|Leber hereditary optic neuropathy with dystonia MESH:C536024|OMIM:500001|UMLS:C1839040|Orphanet:99718|DOID:0111755|GARD:0008476 owl:Class MONDO:0023106 biolink:NamedThing Fairbank disease tmpaxzxjjyw_mondo_relaxed.owl Fairbank multiple epiphyseal dysplasia|epiphyseal dysplasia, Fairbank type|dysplasia epiphysealis multiplex|epiphyseal dysplasia Fairbank type|epiphyseal dysplasia, ribbing type MESH:C536393 owl:Class MONDO:0013136 biolink:NamedThing hereditary hypotrichosis with recurrent skin vesicles Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. tmpaxzxjjyw_mondo_relaxed.owl hypotrichosis and recurrent skin vesicles|hereditary hypotrichosis with recurrent skin vesicles OMIM:613102|UMLS:C2751292|SCTID:724350009|MESH:C567751|Orphanet:217407 owl:Class MONDO:0012174 biolink:NamedThing peripheral cone dystrophy tmpaxzxjjyw_mondo_relaxed.owl peripheral cone dystrophy MESH:C563813|UMLS:C1836946|OMIM:609021 owl:Class CL:0000527 biolink:NamedThing efferent neuron A neuron which sends impulses peripherally to activate muscles or secretory cells. tmpaxzxjjyw_mondo_relaxed.owl output neuron cell owl:Class MONDO:0009331 biolink:NamedThing isolated hemihyperplasia Isolated hemihyperplasia is a rare overgrowth syndrome characterized by an asymmetric regional body overgrowth, involving at least one limb, and associated with an increased risk of developing embryonal tumors, principally nephroblastoma and hepoblastoma. tmpaxzxjjyw_mondo_relaxed.owl hemi 3 syndrome|hemi-3 syndrome|hemihyperplasia, isolated|Hemicorporal hypertrophy|hemihyperplasia|hemihypertrophy, isolated|IH|isolated hemihypertrophy OMIM:235000|MedDRA:10019463|UMLS:C1856184|MESH:C565524|Orphanet:2128|ICD10:Q87.3|GARD:0002630 owl:Class HGNC:497 biolink:NamedThing TRPA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007344 biolink:NamedThing cluster headache, familial An instance of cluster headache syndrome that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl cluster headache, familial|hereditary cluster headache syndrome OMIM:119915|MESH:C566117|UMLS:C1861513 owl:Class HGNC:3687 biolink:NamedThing FGF9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2605435 biolink:NamedThing Evosea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:53527 biolink:NamedThing Culex tmpaxzxjjyw_mondo_relaxed.owl Culex GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:198624 biolink:NamedThing Dermocystida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003038 biolink:NamedThing dysgraphia Loss or impairment of the ability to write (letters, syllables, words, or phrases) due to an injury to a specific cerebral area or occasionally due to emotional factors. This condition rarely occurs in isolation, and often accompanies aphasia. (From Adams et al., Principles of Neurology, 6th ed, p485; apa, Thesaurus of Psychological Index Terms, 1994) tmpaxzxjjyw_mondo_relaxed.owl dysgraphia (disease)|dysgraphia dysgraphia (disease) HP:0010526|ICD10:R48.8|DOID:4540 owl:Class MONDO:0008233 biolink:NamedThing pheochromocytoma tmpaxzxjjyw_mondo_relaxed.owl pheochromocytoma|phaeochromocytoma|pheochromocytoma, susceptibility to DOID:0050771|ONCOTREE:PHC|Orphanet:29072|OMIM:171300 owl:Class UBERON:0010273 biolink:NamedThing zone of hyoid bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012015 biolink:NamedThing nystagmus 3, congenital, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl NYSTAGMUS 3, congenital, autosomal dominant|NYS3 MESH:C537855|UMLS:C1842186|OMIM:608345|GARD:0009600 owl:Class MONDO:0022841 biolink:NamedThing congenital hypotrichosis milia tmpaxzxjjyw_mondo_relaxed.owl GARD:0001488 https://rarediseases.info.nih.gov/diseases/1488/congenital-hypotrichosis-milia owl:Class MONDO:0100484 biolink:NamedThing TSPAN12-related vitreoretinopathy A vitreoretinopathy caused by variants in the TSPAN12 gene. tmpaxzxjjyw_mondo_relaxed.owl exudative vitreoretinopathy caused by mutation in TSPAN12|TSPAN12 exudative vitreoretinopathy|exudative vitreoretinopathy 5 http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:6408 biolink:NamedThing MAFB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009744 biolink:NamedThing neuronal ceroid lipofuscinosis 1 A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. tmpaxzxjjyw_mondo_relaxed.owl classic late infantile CLN (type of CLN1)|Santavuori-Haltia disease|juvenile CLN (type of CLN1)|ceroid lipofuscinosis, neuronal, 1|neuronal ceroid lipofuscinosis caused by mutation in PPT1|congenital neuronal ceroid lipofuscinosis|CLN1 variable age at onset|neuronal ceroid lipofuscinosis type 1|ceroid lipofuscinosis, neuronal, type 1|adult CLN (type of CLN1)|Santavuori disease|neuronal ceroid lipofuscinosis 1 variable age of onset|neuronal ceroid lipofuscinosis, infantile|CLN1 disease|infantile neuronal ceroid lipofuscinosis|ceroid lipofuscinosis neuronal 1|PPT1 neuronal ceroid lipofuscinosis|infantile CLN (type of CLN1)|neuronal ceroid lipofuscinosis 1|ceroid storage disease|congenital NCL|ceroid lipofuscinosis, neuronal, 1, variable Age at onset|lipofuscin storage disease|CLN1 GARD:0001219|Orphanet:79262|Orphanet:168486|OMIM:214200|NCIT:C85861|OMIM:610127|Orphanet:168491|ICD10:E75.4|Orphanet:228329|SCTID:720830009|OMIM:256730|GARD:0009447|UMLS:C0027877|Orphanet:79263|DOID:0110721|Orphanet:79264 https://rarediseases.info.nih.gov/diseases/1219/ceroid-lipofuscinosis-neuronal-1 owl:Class MONDO:0010957 biolink:NamedThing agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations tmpaxzxjjyw_mondo_relaxed.owl Kennerknecht syndrome|agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations|agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations|KENNERKNECHT syndrome OMIM:600908|UMLS:C1833162 owl:Class NCIT:C17828 biolink:NamedThing Biological Process tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012711 biolink:NamedThing peripapillary atrophy, beta type tmpaxzxjjyw_mondo_relaxed.owl peripapillary chorioretinal atrophy, Beta type|Beta-PPA|peripapillary atrophy, BETA type|peripapillary atrophy, beta type|PPAB OMIM:611650|UMLS:C1968838|MESH:C566898 owl:Class OBO:CHR_9606-chr19q1 biolink:NamedThing 19q1 (Human) tmpaxzxjjyw_mondo_relaxed.owl 58617616 26200000 hg38 owl:Class MONDO:0006679 biolink:NamedThing bladder neck obstruction Blockage of the opening between the bladder and the urethra resulting in the reduction or prevention of the urine flow from the bladder into the urethra. tmpaxzxjjyw_mondo_relaxed.owl obstruction of bladder neck or vesicourethral orifice EFO:1000840|MESH:D001748|UMLS:C0005694|MedDRA:10005053|ICD9:596.0|NCIT:C79541|SCTID:399072004|ICD10:N32.0|DOID:13948 owl:Class HGNC:9647 biolink:NamedThing PTPN14 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015278 biolink:NamedThing familial pancreatic carcinoma Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives. tmpaxzxjjyw_mondo_relaxed.owl hereditary pancreatic cancer|hereditary exocrine pancreatic carcinoma|familial pancreatic cancer|hereditary pancreatic carcinoma|familial pancreatic carcinoma|pancreatic acinar carcinoma SCTID:715414009|OMIM:613347|ICD10:C25|UMLS:C2931038|OMIM:613348|Orphanet:1333|OMIM:606856|NCIT:C43298|MESH:C535837|UMLS:C0235974|OMIM:260350|GARD:0004206|OMIM:614320 owl:Class HGNC:33867 biolink:NamedThing SDHAF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:3100011 biolink:NamedThing concentration of dioxygen in liquid water The concentration of dioxygen when measured in liquid water. tmpaxzxjjyw_mondo_relaxed.owl liquid water dioxygen concentration owl:Class MONDO:0002961 biolink:NamedThing large cell acanthoma tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27518|DOID:4321|UMLS:C1334362 owl:Class NCBITaxon:12967 biolink:NamedThing Blastocystis tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032747 biolink:NamedThing hydatidiform mole, recurrent, 4 tmpaxzxjjyw_mondo_relaxed.owl HYDM4|HYDATIDIFORM MOLE, RECURRENT, 4 OMIM:618432 owl:Class MONDO:0011628 biolink:NamedThing propionic acidemia Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl ketotic glycinemia|propionyl-CoA carboxylase deficiency|ketotic hyperglycinemia|propionic aciduria|ketotic II glycinemia|PCC deficiency|GLYCINEMIA, ketotic|Propionicacidemia|hyperglycinemia with ketoacidosis and leukopenia|Glycinemia, ketotic|propionic acidemia|propionyl-Coa carboxylase deficiency|prop GARD:0000467|MESH:D056693|NCIT:C85030|OMIM:606054|DOID:14701|SCTID:69080001|Orphanet:35|ICD10:E71.121|ICD10:E71.1|UMLS:C0268579 https://rarediseases.info.nih.gov/diseases/467/propionic-acidemia owl:Class MONDO:0008839 biolink:NamedThing ataxia-microcephaly-cataract syndrome tmpaxzxjjyw_mondo_relaxed.owl AMC syndrome|ataxia-microcephaly-cataract syndrome MESH:C563086|OMIM:208870|UMLS:C0796056 owl:Class MONDO:0010280 biolink:NamedThing ptosis, hereditary congenital 2 tmpaxzxjjyw_mondo_relaxed.owl Ptos2|ptosis, hereditary congenital 2|ptosis, X-linked|ptosis, hereditary congenital type 2 MESH:C564553|OMIM:300245|UMLS:C1846128|Orphanet:91411 owl:Class MONDO:0009987 biolink:NamedThing autosomal recessive pericentral pigmentary retinopathy A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. tmpaxzxjjyw_mondo_relaxed.owl retinopathy, pericentral pigmentary, autosomal recessive|retinitis pigmentosa, pericentral UMLS:C1849398|DOID:0110422|OMIM:268060|MESH:C564838|ICD10:H35.5|Orphanet:791 owl:Class MONDO:0054636 biolink:NamedThing Skraban-Deardorff syndrome tmpaxzxjjyw_mondo_relaxed.owl intellectual disability with seizures, abnormal Gait, and distinctive Facial features|Skraban-Deardorff syndrome|SKDEAS OMIM:617616|Orphanet:513456|UMLS:C4539927 owl:Class NCBITaxon:59263 biolink:NamedThing Toxascaris tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023607 biolink:NamedThing Laurence-Prosser-Rocker syndrome tmpaxzxjjyw_mondo_relaxed.owl Hirschsprung's disease associated with ulnar polydactyly, polysyndactyly of big toes and ventricular septal defect|Hirschsprung's disease associated with congenital heart malformation, broad big toes, and ulnar polydactyly UMLS:C2931651|MESH:C537882|GARD:0003201 https://rarediseases.info.nih.gov/diseases/3201/laurence-prosser-rocker-syndrome owl:Class MONDO:0010806 biolink:NamedThing retinitis pigmentosa 13 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa type 13|RP 13|PRPF8 retinitis pigmentosa|retinitis pigmentosa caused by mutation in PRPF8|retinitis pigmentosa 13|RP13 MESH:C564008|DOID:0110403|UMLS:C1838702|OMIM:600059|ICD10:H35.5|GARD:0010388 https://rarediseases.info.nih.gov/diseases/10388/retinitis-pigmentosa-13 owl:Class MONDO:0024560 biolink:NamedThing PDA1 tmpaxzxjjyw_mondo_relaxed.owl patent ductus arteriosus 1|PDA|PDA1 OMIM:607411|Orphanet:466729 owl:Class HP:0000828 biolink:NamedThing Abnormality of the parathyroid gland An abnormality of the parathyroid gland. tmpaxzxjjyw_mondo_relaxed.owl Parathyroid disease UMLS:C4025822|SNOMEDCT_US:73132005|MSH:D010279|UMLS:C0030517 There are four parathyroid glands, which are small endocrine glands located in the neck behind the thyroid gland that produce parathyroid hormone. human_phenotype owl:Class MONDO:0020353 biolink:NamedThing von Hippel anomaly tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q13.4|Orphanet:98941 owl:Class HGNC:952 biolink:NamedThing BARD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015639 biolink:NamedThing benign partial epilepsy with secondarily generalized seizures in infancy Benign partial epilepsy with secondarily generalized seizures in infancy is a rare infantile epilepsy syndrome characterized by seizures presenting with motion arrest and staring. They are followed by generalized tonic-clonic convulsions with normal interictal EEG and focal paroxysmal discharges, followed by generalization in ictal EEG. Seizures usually occur in clusters and are responsive to treatment. Psychomotor development is normal. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226718|Orphanet:166302|ICD10:G40.1 owl:Class MONDO:0016371 biolink:NamedThing combined hyperactive dysfunction syndrome of the cranial nerves tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201241|Orphanet:221078 owl:Class HP:0002093 biolink:NamedThing Respiratory insufficiency tmpaxzxjjyw_mondo_relaxed.owl Respiratory function loss|Respiratory impairment|progressive respiratory failure UMLS:C4020855|UMLS:C0035229|MSH:D012131|SNOMEDCT_US:409623005 HP:0005937|HP:0006542|HP:0004893 human_phenotype owl:Class GO:0005497 biolink:NamedThing androgen binding Binding to an androgen, a male sex hormone. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35480 biolink:NamedThing analgesic An agent capable of relieving pain without the loss of consciousness or without producing anaesthesia. In addition, analgesic is a role played by a compound which is exhibited by a capability to cause a reduction of pain symptoms. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032642 biolink:NamedThing arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development tmpaxzxjjyw_mondo_relaxed.owl ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT|ACCIID OMIM:618265|Orphanet:565858 owl:Class MONDO:0015546 biolink:NamedThing non-distal monosomy 10q Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. tmpaxzxjjyw_mondo_relaxed.owl non-distal monosomy type 10q|non-telomeric monosomy 10q|non-distal deletion 10q Orphanet:1581|ICD10:Q93.5 owl:Class ENVO:01001618 biolink:NamedThing ice accumulation process A material accumulation process during which ice forms in an environmental material or an existing accumulation of ice increases in mass. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006283 biolink:NamedThing lymphoepithelioma-like lung carcinoma A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration. tmpaxzxjjyw_mondo_relaxed.owl lymphoepithelioma-like carcinoma of the lung EFO:1000340|ONCOTREE:LECLC|NCIT:C45519|UMLS:C1708792 owl:Class MONDO:0004181 biolink:NamedThing breast adenomyoepithelial adenosis An uncommon variant of breast adenosis characterized by the presence of irregularly shaped glands, epithelial cells with eosinophilic cytoplasm, and prominent myopepithelial cells. Mild atypia may be present. tmpaxzxjjyw_mondo_relaxed.owl DOID:7312|UMLS:C1511283|NCIT:C40391 owl:Class MONDO:0044871 biolink:NamedThing dystonia, focal, task-specific tmpaxzxjjyw_mondo_relaxed.owl focal hand dystonia|musician's dystonia|FTSD|task-specific focal dystonia|task-specific dystonia|dystonia, focal, task-specific|occupational cramp|musician's cramp|occupational dystonia|focal task-specific dystonia MESH:C566973|SCTID:230330004|OMIM:611284 owl:Class UBERON:0000199 biolink:NamedThing neck of radius tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032759 biolink:NamedThing intellectual developmental disorder with short stature and variable skeletal anomalies tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES|IDDSSA OMIM:618453 owl:Class CHEBI:33432 biolink:NamedThing monoatomic chlorine tmpaxzxjjyw_mondo_relaxed.owl atomic chlorine owl:Class HGNC:336 biolink:NamedThing AGTR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100251 biolink:NamedThing familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome tmpaxzxjjyw_mondo_relaxed.owl HFTC|primary hyperphosphatemic tumoral calcinosis|lipocalcinogranulomatosis|hyperphosphatemia tumoral calcinosis|HHS|hyperphosphatemic familial tumoral calcinosis|hyperphosphatemia hyperostosis syndrome|hyperphosphatemia hyperostosis|familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome|tumoral calcinosis with hyperphosphatemia|hypercalcemic tumoral calcinosis|hyperostosis with hyperphosphatemia|morbus Teutschlaender|PHPTC|familial Teutschlaender disease|tumoral calcinosis, hyperphosphatemic, familial, 1|cortical hyperostosis with hyperphosphatemia DOID:0111063|GARD:0010879|Orphanet:53715|NCIT:C131851|UMLS:C1876187|ICD10:M11.2|Orphanet:306661 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0017743 biolink:NamedThing disorder of O-N-acetylgalactosaminylglycan synthesis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:309458|UMLS:CN227190|ICD10:E77.8 owl:Class MONDO:0009261 biolink:NamedThing GM1 gangliosidosis type 2 GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age. tmpaxzxjjyw_mondo_relaxed.owl gangliosidosis generalized GM1 juvenile type|late-infantile GM1 gangliosidosis|gangliosidosis, generalized GM1, late-infantile type|gangliosidosis, generalized GM1, juvenile type|GM1-gangliosidosis, type II|GM1-gangliosidosis, type 2|juvenile GM1 gangliosidosis|gangliosidosis generalized GM1 type 2|gangliosidosis, generalized GM1, type 2 ICD10:E75.1|SCTID:18756002|Orphanet:354|DOID:0080501|OMIM:230600|Orphanet:79256|GARD:0010126 https://rarediseases.info.nih.gov/diseases/10126/gm1-gangliosidosis-type-2 owl:Class MONDO:0020048 biolink:NamedThing internal carotid agenesis Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerised tomography. tmpaxzxjjyw_mondo_relaxed.owl agenesis of the internal carotid artery|internal carotid artery agenesis GARD:0003012|Orphanet:981|ICD10:Q28.1|SCTID:722004001 https://rarediseases.info.nih.gov/diseases/3012/internal-carotid-agenesis owl:Class MONDO:0004147 biolink:NamedThing noninvasive malignant thymoma A morphologically malignant thymoma that is entirely confined within the capsule. tmpaxzxjjyw_mondo_relaxed.owl thymoma malignant noninvasive|malignant thymoma, noninvasive DOID:7214|UMLS:C0278847|NCIT:C9080 owl:Class MONDO:0032594 biolink:NamedThing intellectual developmental disorder and retinitis pigmentosa; IDDRP tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA|IDDRP OMIM:618195 owl:Class MONDO:0009588 biolink:NamedThing Langer mesomelic dysplasia Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs. tmpaxzxjjyw_mondo_relaxed.owl mesomelic dwarfism of the hypoplastic ulna, fibula and mandible type|mesomelic dwarfism, Langer type|LMD|mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type|Langer mesomelic dysplasia|Langer type mesomelic dysplasia|dyschondrosteosis, homozygous|Langer syndrome SCTID:38494008|OMIM:249700|Orphanet:2632|NCIT:C126876|UMLS:C0432230|GARD:0003553|MESH:C537267|ICD10:Q87.1|ICD9:756.59 https://rarediseases.info.nih.gov/diseases/3553/langer-mesomelic-dysplasia owl:Class HGNC:23161 biolink:NamedThing ALG8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000781 biolink:NamedThing chromosome, telomeric region The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). tmpaxzxjjyw_mondo_relaxed.owl nuclear chromosome, telomere|nuclear chromosome, telomeric region|telomere owl:Class MONDO:0008729 biolink:NamedThing congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females. tmpaxzxjjyw_mondo_relaxed.owl adrenal hyperplasia, hypertensive form|P450C11B1 deficiency|CAH due to 11-beta-hydroxylase deficiency|adrenal hyperplasia hypertensive form|steroid 11-Beta-Hydroxylase deficiency|CYP11B1 deficiency|adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency|11-Beta-Hydroxylase deficiency|adrenal hyperplasia IV|adrenal hyperplasia 4 UMLS:C0268292|Orphanet:90795|MedDRA:10000002|MESH:C535978|OMIM:202010|Orphanet:418|NCIT:C131085|SCTID:124214007|ICD9:277.6|ICD10:E25.0|GARD:0005658 owl:Class MONDO:0013956 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial defect in the interferon (IFN)-gamma pathway, leading to mild mycobacterial infections. tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency type 31A|MSMD due to partial signal transducer and activator of transcription 1 deficiency|autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in STAT1|immunodeficiency 31A, Mycobacteriosis, autosomal dominant|IMD31A|MSMD due to partial STAT1 deficiency|STAT1 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency|immunodeficiency 31A|Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency|Stat1 deficiency, autosomal dominant Orphanet:319595|ICD10:D84.8|UMLS:C4013950|OMIM:614892 owl:Class HGNC:11950 biolink:NamedThing TNNT3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008268 biolink:NamedThing polydactyly-myopia syndrome Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. tmpaxzxjjyw_mondo_relaxed.owl Czeizel-Brooser syndrome|polydactyly-myopia syndrome|PMS|Czeizel Brooser syndrome|postaxial polydactyly-progressive myopia syndrome|polydactyly myopia syndrome|postaxial polydactyly with progressive myopia|polydactyly, postaxial, with progressive myopia OMIM:174310|SCTID:82639001|Orphanet:2917|ICD9:625.4|ICD10:Q87.2|MESH:C536331|GARD:0004413 https://rarediseases.info.nih.gov/diseases/4413/polydactyly-myopia-syndrome owl:Class MONDO:0007809 biolink:NamedThing ichthyosis hystrix gravior tmpaxzxjjyw_mondo_relaxed.owl Lambert type ichthyosis|ichthyosis hystrix gravior|porcupine Man|ichthyosis, Lambert type MESH:C536087|OMIM:146600|SCTID:254174005|GARD:0009497|Orphanet:79504|ICD9:757.39|ICD10:Q80.0 https://rarediseases.info.nih.gov/diseases/9497/ichthyosis-hystrix-gravior owl:Class HGNC:171 biolink:NamedThing ACVR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006585 biolink:NamedThing neurodermatitis Skin findings arising from repeated rubbing, picking or scratching of a real or imagined irritation of the skin. tmpaxzxjjyw_mondo_relaxed.owl lichen simplex Chronicus DOID:3309|UMLS:C0149922|SCTID:267854005|NCIT:C111963|MESH:D009450|UMLS:C0027822|EFO:1000740 owl:Class HP:0001698 biolink:NamedThing Pericardial effusion Accumulation of fluid within the pericardium. tmpaxzxjjyw_mondo_relaxed.owl Pericardial effusions|Fluid around heart MSH:D010490|UMLS:C0031039|SNOMEDCT_US:373945007|Fyler:1940 human_phenotype owl:Class HP:0001697 biolink:NamedThing Abnormal pericardium morphology An abnormality of the pericardium, i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the pericardium UMLS:C4025754|Fyler:1900 human_phenotype owl:Class GO:0007584 biolink:NamedThing response to nutrient Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nutrient stimulus. tmpaxzxjjyw_mondo_relaxed.owl response to nutrients|nutritional response pathway owl:Class MONDO:0001466 biolink:NamedThing punctate epithelial keratoconjunctivitis tmpaxzxjjyw_mondo_relaxed.owl Thygeson's superficial punctate keratitis|punctate keratitis|Thygeson superficial punctate keratitis SCTID:416069001|UMLS:C0259799|ICD10:H16.14|ICD9:370.21|DOID:12197 owl:Class UBERON:0014401 biolink:NamedThing renal venous blood vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001690 biolink:NamedThing mass of liquid An object which is composed primarily of a liquid. tmpaxzxjjyw_mondo_relaxed.owl liquid mass owl:Class GO:0016444 biolink:NamedThing somatic cell DNA recombination Recombination occurring within or between DNA molecules in somatic cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016378 biolink:NamedThing maternal hyperthermia induced birth defects Maternal hyperthermia induced birth defects is a rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached. tmpaxzxjjyw_mondo_relaxed.owl hyperthermia induced defects SCTID:765138001|UMLS:C0265377|Orphanet:2216|ICD10:Q86.8|GARD:0002856 https://rarediseases.info.nih.gov/diseases/2856/hyperthermia-induced-defects owl:Class MONDO:0023140 biolink:NamedThing fenton Wilkinson Toselano syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0002287 https://rarediseases.info.nih.gov/diseases/2287/fenton-wilkinson-toselano-syndrome owl:Class MONDO:0008986 biolink:NamedThing circumvallate placenta syndrome tmpaxzxjjyw_mondo_relaxed.owl circumvallate placenta syndrome OMIM:215550|UMLS:C1859089|MESH:C565847 owl:Class MONDO:0002014 biolink:NamedThing autosomal recessive Ehlers-Danlos syndrome, vascular type The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive type IV Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, vascular type, autosomal recessive|Ehlers-Danlos syndrome, recessive type 4 UMLS:C0268340|DOID:14759|SCTID:70610001 owl:Class MONDO:0007493 biolink:NamedThing torsion dystonia 4 DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis). tmpaxzxjjyw_mondo_relaxed.owl whispering dysphonia|autosomal dominant torsion dystonia-4|dystonia 4, torsion, autosomal dominant|DYT4|dystonia musculorum deformans 4|hereditary whispering dysphonia|whispering dysphonia, hereditary|torsion dystonia type 4|primary dystonia, DYT4 type Orphanet:98805|SCTID:719276005|OMIM:128101|GARD:0010138|UMLS:C1860315|DOID:0090041|UMLS:C1851943|ICD10:G24.1 owl:Class UBERON:0005990 biolink:NamedThing aortic valve cusp tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006924 biolink:NamedThing Bartonellaceae infectious disease Infections with bacteria of the family bartonellaceae. tmpaxzxjjyw_mondo_relaxed.owl Bartonellaceae infection|infection, Bartonellaceae|Bartonellaceae disease or disorder|infections, Bartonellaceae|Bartonellaceae caused disease or disorder EFO:1001125|MESH:D001476|UMLS:C0004773 owl:Class MONDO:0006154 biolink:NamedThing colon mucosa-associated lymphoid tissue lymphoma An extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue that arises from the colon. tmpaxzxjjyw_mondo_relaxed.owl MALToma of colon|colon MALT lymphoma|MALT lymphoma of the colon|colonic mucosa-associated lymphoid tissue lymphoma|colonic MALToma|MALToma of the colon|MALT lymphoma of colon|colonic MALT lymphoma|colon MALToma EFO:1000186|UMLS:C1333096|NCIT:C5498 owl:Class MONDO:0020791 biolink:NamedThing corneal dystrophy, Meesmann, 1 tmpaxzxjjyw_mondo_relaxed.owl Corneal Dystrophy, Meesmann Epithelial|MECD1|Corneal Dystrophy, Juvenile Epithelial, of Meesmann|Meesmann Corneal Dystrophy|CORNEAL DYSTROPHY, MEESMANN, 1 OMIM:122100 owl:Class MONDO:0000683 biolink:NamedThing topographical agnosia An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. tmpaxzxjjyw_mondo_relaxed.owl SCTID:83824009|DOID:0060153 owl:Class MONDO:0009451 biolink:NamedThing Nezelof syndrome tmpaxzxjjyw_mondo_relaxed.owl Nezelof syndrome|thymic aplasia|immune defect due to absence Of Thymus|Nezelof's syndrome|immune defect due to absence of THYMUS|T-lymphocyte deficiency UMLS:CN206066|GARD:0007201|MESH:C536288|ICD9:279.13|Orphanet:83471|OMIM:242700|DOID:2012|SCTID:55602000|ICD10:D81.4 owl:Class MONDO:0022576 biolink:NamedThing bilirubin induced brain injury in the newborn tmpaxzxjjyw_mondo_relaxed.owl GARD:0009243 https://rarediseases.info.nih.gov/diseases/9243/bilirubin-induced-brain-injury-in-the-newborn owl:Class MONDO:0011292 biolink:NamedThing dermatitis, atopic tmpaxzxjjyw_mondo_relaxed.owl eczema, Atopic|Atod|dermatitis, Atopic, 1|dermatitis, atopic OMIM:603165 owl:Class MONDO:0019845 biolink:NamedThing iatrogenic or traumatic pituitary deficiency tmpaxzxjjyw_mondo_relaxed.owl ICD10:E23.1|Orphanet:95619 owl:Class HGNC:2334 biolink:NamedThing CR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010538 biolink:NamedThing Mononen-Karnes-Senac syndrome Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. tmpaxzxjjyw_mondo_relaxed.owl thumbs and great toes short and abducted|brachydactyly, Mononen type|thumbs and great toes, short and abducted|Mononen Karnes Senac syndrome|skeletal dysplasia-brachydactyly syndrome|brachydactyly Mononen type|short and abducted thumbs and great toes|skeletal dysplasia brachydactyly|Mononen type brachydactyly DOID:0110973|SCTID:733095006|UMLS:C2931060|ICD10:Q87.5|GARD:0004886|Orphanet:2565|OMIM:301940|MESH:C535914 https://rarediseases.info.nih.gov/diseases/4886/brachydactyly-mononen-type owl:Class MONDO:0017836 biolink:NamedThing erythrokeratoderma en cocardes Erythrokeratoderma 'en cocardes' is a rare genodermatosis characterised by circumscribed target-like (or 'en cocardes') erythematous hyperkeratotic lesions. These lesions, which remit and recur, affect the trunk and extremities and are accompanied by scaly plaques evocative of erythrokeratoderma variabilis. Onset usually occurs at birth or during early childhood. Only few cases have been described. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl Degos genodermatosis 'en cocardes'|Degos 'en cocarde' erythrokeratoderma|erythrokeratoderma ''en cocardes''|Degos genodermatosis|erythrokeratoderma "en cocardes"|Degos genodermatosis "en cocardes"|erythrokeratoderma 'en cocardes' SCTID:239062001|ICD9:447.8|UMLS:CN203813|GARD:0001722|ICD10:Q82.8|Orphanet:315 https://rarediseases.info.nih.gov/diseases/1722/degos-en-cocarde-erythrokeratoderma owl:Class HGNC:9413 biolink:NamedThing PRKDC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008366 biolink:NamedThing red cell permeability defect tmpaxzxjjyw_mondo_relaxed.owl red cell permeability defect|elliptocytosis with transverse slitlike changes OMIM:179650|UMLS:C1867340 owl:Class MONDO:0021829 biolink:NamedThing agnathia-microstomia-synotia tmpaxzxjjyw_mondo_relaxed.owl agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment|Plurimalformative syndrome UMLS:C2931718|GARD:0010125|MESH:C538059 https://rarediseases.info.nih.gov/diseases/10125/agnathia-microstomia-synotia owl:Class MONDO:0013435 biolink:NamedThing primary ciliary dyskinesia 15 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia 15|CILD15|ciliary dyskinesia, primary, 15|primary ciliary dyskinesia caused by mutation in CCDC40|ciliary dyskinesia, primary, type 15|primary ciliary dyskinesia 15 with or without situs inversus|primary ciliary dyskinesia type 15|ciliary dyskinesia, primary, 15, with or without situs inversus|CCDC40 primary ciliary dyskinesia Orphanet:244|ICD10:Q34.8|OMIM:613808|DOID:0110623|UMLS:C3151137 owl:Class MONDO:0010841 biolink:NamedThing Waardenburg syndrome type 2B tmpaxzxjjyw_mondo_relaxed.owl Waardenburg syndrome type IIB|WS2B|Waardenburg syndrome, type 2B UMLS:C1838447|OMIM:600193|Orphanet:3440|GARD:0005522|MESH:C536465|DOID:0110947|Orphanet:895 https://rarediseases.info.nih.gov/diseases/5522/waardenburg-syndrome-type-2b owl:Class UBERON:0011191 biolink:NamedThing ophthalmic vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:417 biolink:NamedThing ALDOB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002449 biolink:NamedThing nodular degeneration of cornea tmpaxzxjjyw_mondo_relaxed.owl SCTID:72620002|DOID:2879|ICD9:371.46|ICD10:H18.45|UMLS:C0155122 owl:Class MONDO:0001515 biolink:NamedThing corneal degeneration tmpaxzxjjyw_mondo_relaxed.owl DOID:1237|ICD9:371.4|ICD9:371.49|UMLS:C0155118|ICD10:H18.4|ICD9:371.40|ICD10:H18.40|SCTID:111521006 owl:Class NCBITaxon:2732525 biolink:NamedThing Pokkesviricetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:2732007 biolink:NamedThing Nucleocytoviricota tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0001762 biolink:NamedThing Talipes equinovarus Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. tmpaxzxjjyw_mondo_relaxed.owl Pes equinovarus|Talipes varus|Pes equinus|Club feet|Club foot|Clubfeet|Foot, talipes equinovarus|Clubbing of feet|Clubfoot|Equinovarus UMLS:C0009081|MEDDRA:10043106|MSH:D003025|Fyler:4171|SNOMEDCT_US:249808002|SNOMEDCT_US:397932003 Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. human_phenotype owl:Class UBERON:0001531 biolink:NamedThing right common carotid artery plus branches tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013257 biolink:NamedThing leprosy, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl LPRS6|leprosy, susceptibility to, 6 OMIM:613407|Orphanet:548 owl:Class HGNC:4236 biolink:NamedThing GFER tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012628 biolink:NamedThing coronary heart disease, susceptibility to, 8 tmpaxzxjjyw_mondo_relaxed.owl CHDS8|coronary heart disease, susceptibility to, 8 OMIM:611139 owl:Class MONDO:0014884 biolink:NamedThing cholestasis, progressive familial intrahepatic, 5 Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene. tmpaxzxjjyw_mondo_relaxed.owl progressive familial intrahepatic cholestasis caused by mutation in NR1H4|cholestasis, progressive familial intrahepatic, 5|PFIC5|cholestasis, progressive familial intrahepatic, 5; PFIC5|cholestasis, progressive familial intrahepatic, type 5|NR1H4 deficiency|NR1H4 progressive familial intrahepatic cholestasis OMIM:617049|UMLS:C4310747|UMLS:CN776839|Orphanet:480476|DOID:0070225 MONDO:0018802 owl:Class MONDO:0019761 biolink:NamedThing laryngotracheoesophageal cleft type 1 Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms. tmpaxzxjjyw_mondo_relaxed.owl LTEC I|LTEC1|laryngo-tracheo-esophageal cleft type 1 Orphanet:93938|ICD10:Q32.1|UMLS:CN206696 owl:Class NCBITaxon:163343 biolink:NamedThing Trichostomatia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:5988 biolink:NamedThing Litostomatea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002139 biolink:NamedThing sigmoid disease Pathological processes in the sigmoid colon region of the large intestine (intestine, large). tmpaxzxjjyw_mondo_relaxed.owl DOID:1897|MESH:D012810|UMLS:C0037072 owl:Class MONDO:0004635 biolink:NamedThing postcricoid region cancer A primary or metastatic malignant neoplasm that affects the postcricoid region. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of the postcricoid area|malignant tumor of pharyngoesophageal junction|malignant tumor of postcricoid area|malignant postcricoid neoplasm|malignant tumor of the postcricoid area|malignant neoplasm of postcricoid area|malignant postcricoid tumor SCTID:363400004|NCIT:C9323|ICD9:148.0|UMLS:C0496769|DOID:8660|ICD10:C13.0 owl:Class MPATH:608 biolink:NamedThing abscess A circumscribed collection of purulent exudate frequently associated with swelling and other signs of inflammation. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033631 biolink:NamedThing combined oxidative phosphorylation deficiency 51 tmpaxzxjjyw_mondo_relaxed.owl COXPD51 OMIM:619057 owl:Class MONDO:0010605 biolink:NamedThing hemopoietic proliferation tmpaxzxjjyw_mondo_relaxed.owl hemopoietic proliferation OMIM:306930 owl:Class MONDO:0024473 biolink:NamedThing Astrakhan spotted fever An infectious disease of the Astrakhan region, Chad, Kosovo, caused by infection with rickettsia conorii subsp. caspia. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050041 owl:Class NCBITaxon:15956 biolink:NamedThing Phleum tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023039 biolink:NamedThing eccrine mucinous carcinoma tmpaxzxjjyw_mondo_relaxed.owl GARD:0010465|UMLS:C0346020 https://rarediseases.info.nih.gov/diseases/10465/eccrine-mucinous-carcinoma owl:Class MONDO:0010229 biolink:NamedThing alopecia, congenital A congenital condition characterized by the absence of hair on the scalp or entire body. The lack of hair is rarely absolute and is usually accompanied by incompletely grown, lanugo-like hair. It affects males twice as much as females and a familial tendency is common. tmpaxzxjjyw_mondo_relaxed.owl alopecia, congenital|congenital alopecia|ALPC OMIM:300042|SCTID:2965006|Orphanet:700|MESH:C535981|NCIT:C35790 owl:Class FOODON:03411059 biolink:NamedThing shellfish or crustacean Shellfish is a food source and fisheries term for exoskeleton-bearing aquatic invertebrates used as food, including various species of molluscs, crustaceans, and echinoderms. Although most kinds of shellfish are harvested from saltwater environments, some kinds are found in freshwater. In addition, a few species of land crabs are eaten, for example *Cardisoma guanhumi* in the Caribbean. [https://en.wikipedia.org/wiki/Shellfish] tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008880 biolink:NamedThing Bowen syndrome of multiple malformations tmpaxzxjjyw_mondo_relaxed.owl Bowen syndrome of multiple malformations|Bowen syndrome MESH:C538164|Orphanet:1271|OMIM:211200|UMLS:C1859404 owl:Class HGNC:17213 biolink:NamedThing COLEC11 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013846 biolink:NamedThing peripartum cardiomyopathy, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl Ppcm, susceptibility to|peripartum cardiomyopathy, susceptibility to OMIM:614670 owl:Class HGNC:3721 biolink:NamedThing FKBP5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:79020 biolink:NamedThing alpha,beta-unsaturated monocarboxylic acid A monocarboxylic acid in which the carbon of the carboxy group is directly attached to a C=C or C#C bond. tmpaxzxjjyw_mondo_relaxed.owl 2,3-unsaturated monocarboxylic acid|alpha,beta-unsaturated monocarboxylic acids|2,3-unsaturated monocarboxylic acids owl:Class MONDO:0012229 biolink:NamedThing myopia 9 tmpaxzxjjyw_mondo_relaxed.owl myopia 9|MYP9 UMLS:C1836504|OMIM:609258|MESH:C563759 owl:Class MONDO:0014357 biolink:NamedThing intellectual disability, autosomal dominant 24 Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal dominant 24|MRD24|intellectual disability, autosomal dominant type 24|DEAF1 autosomal dominant non-syndromic intellectual disability|autosomal dominant intellectual disability 24|mental retardation, autosomal dominant type 24|autosomal dominant non-syndromic intellectual disability 24|autosomal dominant mental retardation 24|autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1|mental retardation, autosomal dominant 24 DOID:0070054|OMIM:615828|UMLS:C4014414 owl:Class MONDO:0013707 biolink:NamedThing intellectual disability, autosomal recessive 24 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 24|MRT24|intellectual disability, autosomal recessive 24 UMLS:C3280543|OMIM:614345 owl:Class MONDO:0033045 biolink:NamedThing orofaciodigital syndrome 16 tmpaxzxjjyw_mondo_relaxed.owl Ofds 16|oral-Facial-digital syndrome, type 16|OFD16|orofaciodigital syndrome XVI UMLS:CN317535|DOID:0080254|OMIM:617563 owl:Class HGNC:8148 biolink:NamedThing OPHN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007887 biolink:NamedThing leiomyoma of vulva and esophagus tmpaxzxjjyw_mondo_relaxed.owl leiomyoma of vulva and esophagus|leiomyomatosis, esophagogastric and vulvar|esophagogastric and vulvar leiomyomatosis UMLS:C1835488|OMIM:150700|GARD:0010097|Orphanet:1018|MESH:C537006 https://rarediseases.info.nih.gov/diseases/10097/leiomyoma-of-vulva-and-esophagus owl:Class HGNC:17327 biolink:NamedThing WAC tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7494 biolink:NamedThing MT-TP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010218 biolink:NamedThing 46,XX sex reversal 2 tmpaxzxjjyw_mondo_relaxed.owl 46,XX SEX reversal 2|46,XX Sex reversal type 2|46,XX sex reversal 2|chromosome 17Q24 Duplication syndrome|SRXX2 Orphanet:393|UMLS:C2749215|OMIM:278850|DOID:0111763 owl:Class MONDO:0014717 biolink:NamedThing early-onset Lafora body disease Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades. tmpaxzxjjyw_mondo_relaxed.owl EPM10|epilepsy, progressive myoclonic, 10|epilepsy, progressive myoclonic, type 10 UMLS:C4225258|ICD10:G40.3|UMLS:C4518574|Orphanet:324290|SCTID:733082001|DOID:0111445|OMIM:616640 owl:Class UBERON:0004528 biolink:NamedThing alveolar ridge of mandible tmpaxzxjjyw_mondo_relaxed.owl owl:Class IAO:8000009 biolink:NamedThing single layer subset ontology module A subset ontology that is largely comprised of a single layer or strata in an ontology class hierarchy. The purpose is typically for rolling up for visualization. The classes in the layer need not be disjoint. tmpaxzxjjyw_mondo_relaxed.owl ribbon subset single layer ontology module owl:Class MONDO:0004038 biolink:NamedThing dental enamel hypoplasia Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth. tmpaxzxjjyw_mondo_relaxed.owl enamel hypoplasia DOID:693|MESH:D003744|SCTID:26597004|UMLS:C0011351|EFO:1001304|NCIT:C34529 owl:Class MONDO:0011437 biolink:NamedThing microcephaly 4, primary, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl MCPH4|microcephaly 4, primary, autosomal recessive MESH:C565792|UMLS:C1858516|OMIM:604321|DOID:0070291 owl:Class SO:0002300 biolink:NamedThing unit_of_gene_expression Transcription units or transcribed coding sequences. tmpaxzxjjyw_mondo_relaxed.owl unit of gene expression owl:Class MONDO:0013369 biolink:NamedThing hypertrophic cardiomyopathy 7 Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the TNNI3 gene. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, familial hypertrophic 7|hypertrophic cardiomyopathy caused by mutation in TNNI3|cardiomyopathy, familial hypertrophic, 7|CMH7|cardiomyopathy, familial hypertrophic, type 7|hypertrophic cardiomyopathy type 7|TNNI3 hypertrophic cardiomyopathy|hypertrophic cardiomyopathy 7 OMIM:613690|UMLS:C1860752|DOID:0110313 owl:Class MONDO:0021012 biolink:NamedThing susceptibility to visceral leishmaniasis, 1 tmpaxzxjjyw_mondo_relaxed.owl kala-Azar, susceptibility to, 1|leishmaniasis, visceral, susceptibility to, 1|KAZA1 OMIM:608207 owl:Class MONDO:0010253 biolink:NamedThing migraine, familial typical, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl migraine, familial typical, susceptibility to, 2|migraine with or without aura, susceptibility to, 2|Mgr2|migraine, familial typical, susceptibility to, type 2|Mfts OMIM:300125 owl:Class HGNC:8143 biolink:NamedThing OPCML tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010618 biolink:NamedThing familial isolated hypoparathyroidism due to agenesis of parathyroid gland Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis). tmpaxzxjjyw_mondo_relaxed.owl X-linked hypoparathyroidism|hypoparathyroidism, X-linked|parathyroid glands, agenesis of|HYPX NCIT:C131079|ICD10:E20.8|Orphanet:2238|MESH:C563238|UMLS:CN201292|OMIM:307700|Orphanet:2239|OMIM:146200 owl:Class SO:0002121 biolink:NamedThing vertebrate_immune_system_gene The configuration of the IG and TR variable (V), diversity (D) and joining (J) germline genes before DNA rearrangements (with or without constant (C) genes in undefined configuration. (germline, non rearranged regions of the IG DNA loci). tmpaxzxjjyw_mondo_relaxed.owl immune_gene owl:Class MONDO:0022465 biolink:NamedThing anotia facial palsy cardiac defect A syndrome characterized by anotia (congenital absence of the pinna) with a normal cochlea and vestibular apparatus, with facial paralysis caused by congenital absence of the entire right facial nerve, and congenital heart disease, which may present as atrioventricular septal defects or variations of tetralogy of Fallot. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000725 https://rarediseases.info.nih.gov/diseases/725/anotia-facial-palsy-cardiac-defect owl:Class HGNC:4446 biolink:NamedThing GPAA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004191 biolink:NamedThing nephrogenic adenoma So-called nephrogenic adenoma is a distinct metaplastic lesion of the urothelium characterized by aggregates of cuboidal or hobnail cells. These cells line thin papillary fronds on the surface or form tubular structures within the lamina propria. tmpaxzxjjyw_mondo_relaxed.owl nephrogenic adenoma UMLS:C0334039|DOID:7334|NCIT:C97097|NCIT:C7413 owl:Class MONDO:0019132 biolink:NamedThing spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:G12.8|UMLS:CN205656|Orphanet:73245 owl:Class PATO:0001297 biolink:NamedThing reflectivity A radiation reflective quality inhering in a bearer by virtue of the ratio of the energy of a wave reflected from its surface to the energy possessed by the wave striking the bearer's surface. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032735 biolink:NamedThing cataract 48 tmpaxzxjjyw_mondo_relaxed.owl CTRCT48|CATARACT 48 DOID:0070354|OMIM:618415 owl:Class HGNC:93 biolink:NamedThing ACAT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001836 biolink:NamedThing amenorrhea The absence of menses in a woman who has achieved reproductive age. tmpaxzxjjyw_mondo_relaxed.owl amenia|amenorrhea (disease)|amenorrhea|absence of menstruation amenorrhea (disease) NCIT:C61443|HP:0000141|MESH:D000568|ICD10:N91.2|ICD9:626.0|UMLS:C0002453|DOID:13938 owl:Class MONDO:0009250 biolink:NamedThing fructose utilization tmpaxzxjjyw_mondo_relaxed.owl fructose utilization 2022-04-01 OMIM:229650 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0020437 biolink:NamedThing atrial septal defect, ostium primum type Atrioventricular septal defect with communication at the atrial level only. tmpaxzxjjyw_mondo_relaxed.owl partial atrioventricular septal defect|atrial septal defect ostium primum|incomplete atrioventricular septal defect with isolated atrial component|incomplete atrioventricular canal defect with isolated atrial component|primum atrial septal defect|ostium primum ASD|partial atrioventricular septal defect: ostium primum type|partial atrioventricular canal defect with isolated atrial component|ASD ostium primum type|PAVSD|PAVC|ASD, ostium primum type|atrioventricular defect with atrial shunting only MESH:D006344|UMLS:C0031192|Orphanet:99106|SCTID:17718000|MESH:C548006|GARD:0010695|ICD10:Q21.2 https://github.com/monarch-initiative/mondo/issues/3879 owl:Class MONDO:0010782 biolink:NamedThing myopathy, lactic acidosis, and sideroblastic anemia 3 tmpaxzxjjyw_mondo_relaxed.owl MLASA3|myopathy, lactic acidosis, and sideroblastic anemia type 3|myopathy, lactic acidosis, and sideroblastic anemia 3 DOID:0111184|UMLS:C4225415|Orphanet:2598|OMIM:500011 owl:Class MONDO:0012272 biolink:NamedThing intellectual disability, keratoconus, febrile seizures, and sinoatrial block tmpaxzxjjyw_mondo_relaxed.owl mental retardation, keratoconus, febrile seizures, and sinoatrial block|intellectual disability, keratoconus, febrile seizures, and sinoatrial block GARD:0010064|OMIM:609438|MESH:C537452|UMLS:C1836202 https://rarediseases.info.nih.gov/diseases/10064/mental-retardation-keratoconus-febrile-seizures-and-sinoatrial-block owl:Class HGNC:17116 biolink:NamedThing CATSPER1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020749 biolink:NamedThing polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 tmpaxzxjjyw_mondo_relaxed.owl polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770 owl:Class FOODON:03411081 biolink:NamedThing penaeid shrimp family *Penaeidae* is a family of marine crustacean in the suborder *Dendrobranchiata*, which are often referred to as penaeid shrimp or penaeid prawn. It contains many species of economic importance, such as the tiger prawn, whiteleg shrimp, Atlantic white shrimp and Indian prawn. Many prawns are the subject of commercial fishery, and farming, both in marine settings, and in freshwater farms. [https://en.wikipedia.org/wiki/Penaeidae] tmpaxzxjjyw_mondo_relaxed.owl Natantia|Dendrobranchiata Bate, 1888 owl:Class HGNC:5326 biolink:NamedThing HYMAI tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019511 biolink:NamedThing autosomal dominant medullary cystic kidney disease with hyperuricemia An inherited disorder that causes a gradual loss of kidney function that eventually leads to the need for kidney transplantation or dialysis between the ages of 30 and 70, which is caused by a mutation in the UMOD gene, which leads to the build-up of the altered uromodulin protein in the tubules of the kidney, leading to slow loss of kidney function. Patients with ADTKD-UMOD have high blood levels of uric acid before kidney failure develops, and some affected individuals may develop gout. tmpaxzxjjyw_mondo_relaxed.owl UMOD-related autosomal dominant tubulointerstitial kidney disease|autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD|ADMCKD2|autosomal dominant medullary cystic kidney disease with hyperuricemia|UMOD-related ADTKD|ADTKD-UMOD|autosomal dominant medullary cystic kidney disease type 2 ICD10:Q61.5|UMLS:CN206322|GARD:0010679|Orphanet:88950 owl:Class MONDO:0008822 biolink:NamedThing arthrogryposis, renal dysfunction, and cholestasis 1 Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene. tmpaxzxjjyw_mondo_relaxed.owl arthrogryposis, renal dysfunction, and cholestasis 1|arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B|VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome|ARCS1|arthrogryposis, renal dysfunction, and cholestasis type 1|Arc syndrome DOID:0111353|Orphanet:2697|OMIM:208085 owl:Class MONDO:0017037 biolink:NamedThing secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease tmpaxzxjjyw_mondo_relaxed.owl secondary ILD in childhood and adulthood associated with a metabolic disease 2022-03-01 Orphanet:264968|UMLS:CN202348 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class HP:0012384 biolink:NamedThing Rhinitis Inflammation of the nasal mucosa with nasal congestion. tmpaxzxjjyw_mondo_relaxed.owl Nasal inflammation UMLS:C0035455|SNOMEDCT_US:70076002|MSH:D012220|UMLS:C2718128 hecht 2013-10-19T05:37:08Z human_phenotype owl:Class MONDO:0000895 biolink:NamedThing nonmucinous bronchioloalveolar adenocarcinoma A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl DOID:0080186 owl:Class MONDO:0002585 biolink:NamedThing breast fibrocystic change, proliferative type Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent. tmpaxzxjjyw_mondo_relaxed.owl proliferating lesion of breast without atypia|proliferative type fibrocystic change of breast|proliferative fibrocystic change|breast fibrocystic change, proliferative type|fibrocystic change, proliferative type with atypia|proliferative breast disease|fibrocystic disease, proliferative type with atypia|benign proliferative breast disease|proliferative breast lesion|proliferating lesion of the breast without atypia|proliferative type fibrocystic change of the breast UMLS:C0334056|NCIT:C6940|DOID:3274 owl:Class MONDO:0016725 biolink:NamedThing pineal parenchymal tumor of intermediate differenciation Pineal parenchymal tumor of intermediate differentiation (PPTID) describes a rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl ICD10:D44.5|UMLS:CN201973|Orphanet:251919 owl:Class MONDO:0009415 biolink:NamedThing hypoglycemia, leucine-induced tmpaxzxjjyw_mondo_relaxed.owl hypoglycemia leucine induced|hypoglycemia, leucine-induced|LIH|leucine-sensitive hypoglycemia of infancy|hypoglycemia leucine-induced|familial infantile hypoglycemia precipitated by leucine SCTID:62151007|MESH:C537150|UMLS:C0271714|EFO:0006856|GARD:0009915|OMIM:240800 owl:Class MONDO:0017075 biolink:NamedThing upper thoracic spina bifida cystica tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268770 owl:Class NCBITaxon:348386 biolink:NamedThing unclassified Lentivirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001303 biolink:NamedThing abnormal pupillary function tmpaxzxjjyw_mondo_relaxed.owl abnormal pupillary function|abnormal pupillary function (disease) abnormal pupillary function (disease) ICD9:379.40|DOID:11518|HP:0007686|ICD9:379.49|SCTID:72124005|ICD10:H57.09 owl:Class MONDO:0100066 biolink:NamedThing TH-deficient progressive infantile encephalopathy A tyrosine hydroxylase deficiency in which individuals are extremely sensitive to levodopa therapy. In this very severe form, treatment with levodopa is often limited by intolerable dyskinesias. tmpaxzxjjyw_mondo_relaxed.owl tyrosine hydroxylase-deficient progressive infantile encephalopathy 2018-11-10 00:10:46+00:00 owl:Class MONDO:0011358 biolink:NamedThing blue nevi, familial multiple tmpaxzxjjyw_mondo_relaxed.owl blue nevi, familial multiple UMLS:C1863617|MESH:C566346|OMIM:603670 owl:Class MONDO:0017485 biolink:NamedThing femoral agenesis/hypoplasia, bilateral tmpaxzxjjyw_mondo_relaxed.owl femoral intercalary meromelia, bilateral ICD10:Q72.4|Orphanet:295067 owl:Class MONDO:0010808 biolink:NamedThing fatal familial insomnia Fatal familial insomnia (FFI) is a very rare form of prion disease characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances. tmpaxzxjjyw_mondo_relaxed.owl familial fatal insomnia|fatal familial INSOMNIA|FFI|fatal familial insomnia|Insomnia familial fatal|Insomnia, fatal familial ICD9:046.72|GARD:0006429|ICD10:A81.83|SCTID:83157008|ICD10:A81.8|OMIM:600072|MedDRA:10072077|Orphanet:466|DOID:0050433|NCIT:C84711|UMLS:C0206042|MESH:D034062 https://rarediseases.info.nih.gov/diseases/6429/fatal-familial-insomnia owl:Class MONDO:0008080 biolink:NamedThing neurofibromatosis, type III, mixed central and peripheral tmpaxzxjjyw_mondo_relaxed.owl neurofibromatosis, type III, Riccardi type|neurofibromatosis, type III, of Riccardi|neurofibromas, palmar cutaneous|Nf 3|neurofibromatosis, type III, mixed central and peripheral|NF3A Orphanet:93921|MESH:C537389|OMIM:162260|SCTID:254240003 owl:Class MONDO:0004160 biolink:NamedThing female stress incontinence The involuntary loss of urine in females secondary to insufficient strength of the pelvic floor muscles; this can result from physical changes following pregnancy and childbirth, or as a response to a decrease in estrogen during menopause. tmpaxzxjjyw_mondo_relaxed.owl female urinary stress incontinence|stress incontinence - female UMLS:C0038437|DOID:724|NCIT:C35042|ICD9:625.6 owl:Class MONDO:0011354 biolink:NamedThing situs inversus totalis with cystic dysplasia of kidneys and pancreas tmpaxzxjjyw_mondo_relaxed.owl situs inversus totalis with cystic dysplasia of kidneys and pancreas|situs inversus, cystic dysplastic kidney and pancreas, bowed lower limbs,severe intrauterine growth retardation, and oligohydramnios UMLS:C1863647|GARD:0008567|MESH:C536666|OMIM:603643 https://rarediseases.info.nih.gov/diseases/8567/situs-inversus-totalis-with-cystic-dysplasia-of-kidneys-and-pancreas owl:Class MONDO:0012230 biolink:NamedThing myopia 10 tmpaxzxjjyw_mondo_relaxed.owl MYP10|myopia 10 MESH:C563758|OMIM:609259|UMLS:C1836503 owl:Class HGNC:4823 biolink:NamedThing HBA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002209 biolink:NamedThing Sparse scalp hair Decreased number of hairs per unit area of skin of the scalp. tmpaxzxjjyw_mondo_relaxed.owl sparse-absent scalp hair|Reduced/lack of hair on scalp|Hypotrichosis on scalp|Decreased number of scalp follicles|Scalp hair, thinning|Thin scalp hair|Reduction in the number of scalp follicles|Sparse scalp hair|Sparse, thin scalp hair|Scalp hypotrichosis UMLS:C1857042|UMLS:C1873509 Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. HP:0004775|HP:0004542|HP:0004774|HP:0004772|HP:0004782|HP:0004541|HP:0004534|HP:0002556|HP:0002233|HP:0004526 human_phenotype owl:Class MONDO:0020555 biolink:NamedThing pleuropulmonary blastoma type 1 A pleuropulmonary blastoma composed of malignant small cells. Sarcomatous features are absent. tmpaxzxjjyw_mondo_relaxed.owl type I pleuropulmonary blastoma NCIT:C45626|ICD10:C34.2|ICD10:C34.8|Orphanet:99933|UMLS:CN207457|SCTID:707671008|ICD10:C34.9|ICD10:C34.3|ICD9:162.9|ICD10:C34.1 owl:Class CHEBI:26738 biolink:NamedThing sphingenine A 2-aminooctadecene-1,3-diol having (2S,3R)-configuration. tmpaxzxjjyw_mondo_relaxed.owl sphingenines owl:Class MONDO:0010177 biolink:NamedThing vascular hyalinosis A syndrome characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract, kidneys, and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikilodermia and greying hair, as well as severe diarrhoea, rectal bleeding, malabsorption and subarachnoid hemorrhage. tmpaxzxjjyw_mondo_relaxed.owl digestive tract and renal small vessel hyalinosis, intracerebral calcifications, retinal ischemic syndrome and phenotypic a|Rambaud-Gallian syndrome|retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome|vascular hyalinosis|Rambaud-Gallian-Touchard syndrome GARD:0004635|MESH:C564750|ICD10:E78.8|OMIM:277175|Orphanet:3018 https://github.com/monarch-initiative/mondo/issues/3607 owl:Class SO:1000029 biolink:NamedThing chromosomal_deletion An incomplete chromosome. tmpaxzxjjyw_mondo_relaxed.owl chromosomal deletion|(bacteria)&Dgr;|(Drosophila)Df|(fungi)D|deficiency owl:Class GO:0035150 biolink:NamedThing regulation of tube size Ensuring that a tube is of the correct length and diameter. Tube size must be maintained not only during tube formation, but also throughout development and in some physiological processes. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1659 biolink:NamedThing Actinomyces israelii tmpaxzxjjyw_mondo_relaxed.owl Actinobacterium israeli|Cohnistreptothrix israeli|Corynebacterium israeli|Proactinomyces israeli|Discomyces israeli|Brevistreptothrix israeli|Nocardia israeli|Oospora israeli|Streptothrix israeli PMID:30186281|GC_ID:11 ncbi_taxonomy owl:Class HP:0003508 biolink:NamedThing Proportionate short stature A kind of short stature in which different regions of the body are shortened to a comparable extent. tmpaxzxjjyw_mondo_relaxed.owl Short stature, proportionate|Proportionate small stature UMLS:C0878660 HP:0003499 human_phenotype owl:Class CL:0002623 biolink:NamedThing acinar cell of salivary gland An acinar cell of salivary gland. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-14T02:22:22Z cell owl:Class MONDO:0018767 biolink:NamedThing severe primary trimethylaminuria Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene. tmpaxzxjjyw_mondo_relaxed.owl fish odor syndrome|fish-odor syndrome|fish malodor syndrome|stale fish syndrome|TMAU|TMAuria DOID:0080361|HP:0003614|ICD10:E88.8|Orphanet:468726|GARD:0006447|OMIM:602079|MESH:C536561 https://github.com/monarch-initiative/mondo/issues/3448 owl:Class MONDO:0004913 biolink:NamedThing alternating esotropia tmpaxzxjjyw_mondo_relaxed.owl SCTID:39837002|ICD10:H50.05|UMLS:C0152205|ICD9:378.05|DOID:9888 owl:Class MONDO:0024358 biolink:NamedThing complex sleep apnea A distinct form of sleep-disordered breathing characterized as central sleep apnea (CSA), and presents in obstructive sleep apnea (OSA) patients during initial treatment with a continuous positive airway pressure (CPAP) device. tmpaxzxjjyw_mondo_relaxed.owl complex sleep apnea|mixed sleep apnea|CompSAS SCTID:230493001|DOID:0080302 owl:Class MONDO:0003595 biolink:NamedThing sclerosing liposarcoma A morphologic variant of well differentiated liposarcoma occurring most often in the retroperitoneum and paratesticular area. It is characterized by the presence of bizarre hyperchromatic stromal cells and rare multivacuolated lipoblasts within a fibrous stroma. tmpaxzxjjyw_mondo_relaxed.owl DOID:5704|NCIT:C6507|ICD9:171.9|UMLS:C0334469|SCTID:404068003 owl:Class NCBITaxon:439488 biolink:NamedThing ssRNA viruses tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class UBERON:0014852 biolink:NamedThing chorda tendinea of right ventricle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011248 biolink:NamedThing distal monosomy 13q Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported. tmpaxzxjjyw_mondo_relaxed.owl monosomy 13q32|13q32 deletion|distal monosomy type 13q|anal atresia, hypospadias, and penoscrotal inversion|telomeric deletion13q|deletion 13q32|distal 13q deletion ICD10:Q93.5|Orphanet:1590|SCTID:763527007|OMIM:602553|MESH:C566526|UMLS:C1865208 owl:Class MONDO:0004393 biolink:NamedThing mixed astrocytoma-ependymoma A tumor of mixed cell type with astrocytic components as well as ependymoma components. tmpaxzxjjyw_mondo_relaxed.owl mixed astrocytoma-ependymoma NCIT:C8271|UMLS:C0280791|DOID:7907 owl:Class UBERON:0036990 biolink:NamedThing wall of pharyngotympanic tube tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:319546 biolink:NamedThing Rickettsia conorii subsp. conorii tmpaxzxjjyw_mondo_relaxed.owl PMID:15766388|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0009191 biolink:NamedThing Lowry-Wood syndrome Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl epiphyseal dysplasia, microcephaly and nystagmus|Lowry Wood syndrome|Lowry-Wood syndrome|LWS|epiphyseal dysplasia-microcephaly-nystagmus syndrome|epiphyseal dysplasia, microcephaly, and NYSTAGMUS MESH:C537038|UMLS:C0796021|MedDRA:10062600|SCTID:721975004|GARD:0000264|OMIM:226960|Orphanet:1824|ICD10:Q87.5 https://rarediseases.info.nih.gov/diseases/264/lowry-wood-syndrome owl:Class HGNC:2890 biolink:NamedThing DKC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015760 biolink:NamedThing glucose-6-phosphate transport The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015712 biolink:NamedThing hexose phosphate transport The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007849 biolink:NamedThing keratitis fugax hereditaria tmpaxzxjjyw_mondo_relaxed.owl KERATOENDOTHELIITIS fugax hereditaria|Keratoendotheliitis fugax hereditaria|keratitis fugax hereditaria|KEFH MESH:C563650|UMLS:C1835697|OMIM:148200 owl:Class MONDO:0033669 biolink:NamedThing Noonan syndrome 13 tmpaxzxjjyw_mondo_relaxed.owl NS13 OMIM:619087 owl:Class GO:0080144 biolink:NamedThing amino acid homeostasis Any process involved in the maintenance of an internal steady state of amino acid within an organism or cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033665 biolink:NamedThing hearing loss, autosomal dominant 78 tmpaxzxjjyw_mondo_relaxed.owl DFNA78|deafness, autosomal dominant 78 OMIM:619081 owl:Class CL:1000222 biolink:NamedThing stomach neuroendocrine cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042827 biolink:NamedThing platelet dense granule Electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins. tmpaxzxjjyw_mondo_relaxed.owl bull's eye body|platelet dense body owl:Class MONDO:0009791 biolink:NamedThing oral sensibility, disturbance of tmpaxzxjjyw_mondo_relaxed.owl disturbance of oral sensitivity|impairment of oral perception|oral sensibility, disturbance of GARD:0009476|OMIM:258800 https://rarediseases.info.nih.gov/diseases/9476/impairment-of-oral-perception owl:Class MONDO:0003082 biolink:NamedThing filamentary keratitis tmpaxzxjjyw_mondo_relaxed.owl SCTID:51286002|ICD9:370.23|UMLS:C0155077|ICD10:H16.12|DOID:4664 owl:Class NCBITaxon:2826938 biolink:NamedThing Brucella/Ochrobactrum group tmpaxzxjjyw_mondo_relaxed.owl PMID:32373076|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0004530 biolink:NamedThing early invasive cervical adenocarcinoma A cervical adenocarcinoma with minimal stromal invasion. The risk of local lymph node metastasis is insignificant and the prognosis is excellent. tmpaxzxjjyw_mondo_relaxed.owl cervical microinvasive adenocarcinoma NCIT:C36096|UMLS:C1333369|DOID:8307 owl:Class MONDO:0001369 biolink:NamedThing chronic laryngitis Persistent laryngitis usually caused by smoking, heavy alcohol consumption, voice abuse, or gastroesophageal reflux disease. It results in hoarseness and other voice changes. tmpaxzxjjyw_mondo_relaxed.owl laryngitis, chronic DOID:11797|UMLS:C0155836|NCIT:C26975|ICD10:J37.0|ICD9:476.0|SCTID:29951006 owl:Class MONDO:0010416 biolink:NamedThing deafness, cataract, retinitis pigmentosa, and sperm abnormalities tmpaxzxjjyw_mondo_relaxed.owl deafness, cataract, retinitis pigmentosa, and sperm abnormalities UMLS:C2678011|OMIM:300719|MESH:C567467 owl:Class MONDO:0019655 biolink:NamedThing sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis tmpaxzxjjyw_mondo_relaxed.owl sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis UMLS:CN206528|ICD10:N04.1|Orphanet:93218 owl:Class MONDO:0012712 biolink:NamedThing dystonia with cerebellar atrophy tmpaxzxjjyw_mondo_relaxed.owl DYTCA|dystonia with cerebellar atrophy MESH:C567131|OMIM:611694|UMLS:C2673697 owl:Class HP:0002835 biolink:NamedThing Aspiration Inspiration of a foreign object into the airway. tmpaxzxjjyw_mondo_relaxed.owl Pulmonary aspiration UMLS:C0700198|UMLS:C2712334|SNOMEDCT_US:68052005|SNOMEDCT_US:413585005 human_phenotype owl:Class MONDO:0004542 biolink:NamedThing cervical adenosquamous carcinoma, glassy cell variant A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates. tmpaxzxjjyw_mondo_relaxed.owl glassy cell variant cervical adenosquamous carcinoma|GCC of the cervix|glassy cell carcinoma of the cervix uteri|cervical adenosquamous carcinoma, glassy cell variant|glassy cell adenocarcinoma of the uterine cervix|glassy cell carcinoma of the cervix ICD10:C53.0|GARD:0008437|Orphanet:213833|NCIT:C40212|ICD10:C53.1|ONCOTREE:CEGCC|DOID:8361|MESH:C536823|ICD10:C53.8 https://rarediseases.info.nih.gov/diseases/8437/glassy-cell-carcinoma-of-the-cervix owl:Class MONDO:0006548 biolink:NamedThing facial dermatosis Facial Dermatosis, also known as facial dermatoses, is related tolipogranulomatosis. An important gene associated with Facial Dermatosis isCCNE1(cyclin E1). The drugsbetamethasoneandbetamethasone acetatehave been mentioned in the context of this disorder. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015456|DOID:3134|EFO:1000698|MESH:D005148 owl:Class MONDO:0006411 biolink:NamedThing sinonasal undifferentiated carcinoma A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor. tmpaxzxjjyw_mondo_relaxed.owl undifferentiated Sinonasal cancer|highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses|sinonasal undifferentiated carcinoma|SNUC|Sinonasal anaplastic carcinoma EFO:1000527|ONCOTREE:SNUC|NCIT:C54294|UMLS:C1710096|SCTID:697993003|GARD:0009249|MESH:C537344 https://rarediseases.info.nih.gov/diseases/9249/sinonasal-undifferentiated-carcinoma owl:Class MONDO:0015809 biolink:NamedThing localized pagetoid reticulosis A variant of mycosis fungoides, characterized by an exclusively intraepidermal atypical (cerebriform) lymphocytic infiltrate. Patients present with a localized psoriasiform or hyperkeratotic patch or plaque, usually in the extremities. Extracutaneous dissemination of the disease has never been reported. tmpaxzxjjyw_mondo_relaxed.owl localized reticulosis|pagetoid reticulosis|pagetoid reticulosis, Woringer-Kolopp type|localised reticulosis NCIT:C35794|UMLS:C1276140|MESH:D056267|SCTID:404120006|ICD9:202.70|Orphanet:178517|ICD10:C84.0 owl:Class MONDO:0011321 biolink:NamedThing expansile bone lesions tmpaxzxjjyw_mondo_relaxed.owl expansile bone lesions OMIM:603439|MESH:C566375|UMLS:C1863880 owl:Class MONDO:0015269 biolink:NamedThing symmetrical thalamic calcifications Symmetrical thalamic calcifications are clinically distinguished by a low Apgar score, spasticity or marked hypotonia, weak or absent cry, poor feeding, and facial diplegia or weakness. tmpaxzxjjyw_mondo_relaxed.owl bilateral symmetrical thalamic gliosis GARD:0005070|SCTID:719164000|Orphanet:1314|UMLS:C4304914|ICD10:G93.8 https://rarediseases.info.nih.gov/diseases/5070/symmetrical-thalamic-calcifications owl:Class MONDO:0008024 biolink:NamedThing neuronopathy, distal hereditary motor, type 7A Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene. tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy, distal, with vocal cord paralysis|neuronopathy, distal hereditary motor, type VIIA|Harper-Young myopathy|Dhmn7A|HMN7A|HMN 7A|SLC5A7 neuronopathy, distal hereditary motor|Dhmnvp|neuropathy, distal hereditary motor, type 7A|neuronopathy, distal hereditary motor caused by mutation in SLC5A7 MESH:C563562|DOID:0111201|UMLS:C1834703|Orphanet:139589|OMIM:158580 owl:Class MONDO:0015466 biolink:NamedThing cranio-osteoarthropathy Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. tmpaxzxjjyw_mondo_relaxed.owl Currarino disease|cranio osteoarthropathy|Reginato-Schiapachasse syndrome|Currarino idiopathic osteoarthropathy OMIM:259100|UMLS:CN199601|SCTID:720753002|ICD10:M89.4|GARD:0001564|UMLS:C1531773|Orphanet:1525 https://rarediseases.info.nih.gov/diseases/1564/cranio-osteoarthropathy owl:Class MONDO:0005122 biolink:NamedThing Pectobacterium carotovorum infection A bacterial infection induced by Pectobacterium carotovorum which is is a bacterium of the family Enterobacteriaceae. This bacterius is a ubiquitous plant pathogen with a wide host range (carrot, potato, tomato, leafy greens, squash and other cucurbits, onion, green peppers, African violets etc.), able to cause disease in almost any plant tissue it invades. It is a very economically important pathogen in terms of postharvest losses, and a common cause of decay in stored fruits and vegetables. Decay caused by E. carotovora is often simply referred to as "bacterial soft rot" (BSR) though this may also be caused by other bacteria. Most plants or plant parts can resist invasion by the bacteria, unless some type of wound is present. High humidity and temperatures around 30°C favor development of decay. Mutants can be produced which are less virulent. Virulence factors include: pectinases, cellulases, (which degrade plant cell walls), and also proteases, lipases, xylanases and nucleases (along with the normal virulence factors for pathogens – Fe acquisition, LPS integrity, multiple global regulatory systems). tmpaxzxjjyw_mondo_relaxed.owl Pectobacterium disease or disorder|Pectobacterium caused disease or disorder|Pectobacterium infectious disease EFO:0000781|Wikipedia:Pectobacterium_carotovorum owl:Class MONDO:0018333 biolink:NamedThing multiple acyl-CoA dehydrogenase deficiency, mild type tmpaxzxjjyw_mondo_relaxed.owl glutaric aciduria type 2, mild type|MAD deficiency, mild type|MADD, mild type UMLS:CN205005|ICD10:E71.3|Orphanet:394532 owl:Class MONDO:0007416 biolink:NamedThing Balkan nephropathy A chronic tubulointerstitial nephropathy that affects people in certain rural areas along the Danube river in the Balkans. It leads to end-stage renal disease. tmpaxzxjjyw_mondo_relaxed.owl Chinese herb endemic nephropathy|Danubian endemic familial nephropathy|AAN|aristolochic acid nephropathy|DEFN|Balkan endemic nephropathy|nephropathia epidemica|endemic nephropathy|BEN EFO:0007164|NCIT:C84584|OMIM:124100|ICD9:583.89|NCIT:C123025|MESH:D001449|UMLS:C0004698|UMLS:C4049993|SCTID:26121002|GARD:0008576|ICD10:N15.0|DOID:3052 owl:Class HP:0005599 biolink:NamedThing Hypopigmentation of hair tmpaxzxjjyw_mondo_relaxed.owl Loss of hair color|Loss of hair colour|Hair hypopigmentation UMLS:C3278401 human_phenotype owl:Class HP:0000025 biolink:NamedThing Functional abnormality of male internal genitalia tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025898 human_phenotype owl:Class MONDO:0001899 biolink:NamedThing rheumatic congestive heart failure tmpaxzxjjyw_mondo_relaxed.owl rheumatic heart failure|rheumatic heart failure (congestive)|congestive rheumatic heart failure ICD9:398.91|UMLS:C0155582|ICD10:I09.81|DOID:14172|SCTID:82523003 owl:Class MONDO:0021494 biolink:NamedThing benign neoplasm of parotid gland A benign neoplasm that involves the parotid gland. tmpaxzxjjyw_mondo_relaxed.owl benign neoplasm of parotid|benign tumor of parotid|benign parotid tumor|parotid gland benign neoplasm|benign parotid gland neoplasm|benign tumor of parotid gland|benign tumor of the parotid|benign neoplasm of the parotid|benign parotid neoplasm|benign parotid gland tumor|benign tumor of the parotid gland|benign neoplasm of the parotid gland UMLS:C0496857|NCIT:C4770|SCTID:92279000|ICD10:D11.0 owl:Class MONDO:0006982 biolink:NamedThing subacute thyroiditis Self-limited inflammation of the thyroid gland characterized by the presence of multinucleated giant cells. Patients present with neck pain, often associated with fever and dysphagia. The clinical course includes an initial phase of hyperthyroidism, followed by a phase of hypothyroidism, and eventually a return to normal thyroid function. tmpaxzxjjyw_mondo_relaxed.owl De Quervain thyroiditis|giant-cell thyroiditis|Subacute thyroiditis|Subacute granulomatous thyroiditis|De Quervain's thyroiditis|de Quervain's thyroiditis|DeQuervain thyroiditis|granulomatous thyroiditis EFO:1001194|MedDRA:10042298|UMLS:C0040149|ICD10:E06.1|DOID:7165|SCTID:428041004|MESH:D013968|ICD9:245.1|NCIT:C35828 owl:Class MONDO:0010739 biolink:NamedThing Taqi polymorphism tmpaxzxjjyw_mondo_relaxed.owl TaqI polymorphism|Taqi polymorphism|TAQ1 OMIM:313480 owl:Class MONDO:0004672 biolink:NamedThing fasciolopsiasis A small bowel infection that is caused by Fasciolopsis buski, which is endemic in the Far East and Southeast Asia, and which is transmitted via the consumption of raw or undercooked aquatic plants. The spectrum of manifestations range from asymptomatic to intestinal symptoms from local invasion or allergic response. tmpaxzxjjyw_mondo_relaxed.owl infection by Fasciolopsis buski|infectious disease by Fasciolopsis DOID:888|UMLS:C0015656|NCIT:C128388|ICD9:121.4|ICD10:B66.5|SCTID:54266002 owl:Class MONDO:0009413 biolink:NamedThing immunodeficiency, common variable, 2 tmpaxzxjjyw_mondo_relaxed.owl CVID2|antibody deficiency due to TACI defect|immunodeficiency, common variable, 2|hypogammaglobulinemia due to TACI deficiency|immunodeficiency, common variable, type 2 UMLS:C3150354|Orphanet:1572|OMIM:240500 owl:Class MONDO:0032809 biolink:NamedThing hepatitis, fulminant viral, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl FVH|HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO OMIM:618549 owl:Class MONDO:0015205 biolink:NamedThing isolated lissencephaly type 1 without known genetic defects Isolated lissencephaly type 1 without known genetic defects belongs to the genetically heterogeneous group, classic lissencephaly. It is a diagnosis of exclusion, when neither associated malformations nor family history are present, and in the absence of mutations of genes known to be involved in classic lissencephaly. Clinically patients present with the common features of classic lissencephaly such as developmental delay, intellectual disability, and seizures. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q04.3|SCTID:715406003|UMLS:CN226623|UMLS:C4275151|Orphanet:1084 owl:Class MONDO:0018846 biolink:NamedThing penile agenesis An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities. tmpaxzxjjyw_mondo_relaxed.owl micropenis|penis agenesis|penis agenesia|Aphallus|Aphallia|agenesis of the penis|congenital absence of penis SCTID:59981001|Orphanet:49|ICD10:Q55.5|GARD:0004272|NCIT:C99009|MESH:C536649 owl:Class HGNC:20087 biolink:NamedThing TTC8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007038 biolink:NamedThing Achoo syndrome tmpaxzxjjyw_mondo_relaxed.owl Achoo syndrome|autosomal dominant compelling helio ophthalmic outburst syndrome|Peroutka sneeze|sneezing from Light exposure|autosomal dominant compelling Helioophthalmic outburst syndrome|photic sneeze reflex OMIM:100820|UMLS:C1863416|MESH:C535300|GARD:0010036|EFO:0007887 owl:Class MONDO:0012066 biolink:NamedThing atrial fibrillation, familial, 1 tmpaxzxjjyw_mondo_relaxed.owl ATFB1|atrial fibrillation, autosomal dominant|atrial fibrillation, familial, 1 OMIM:608583|MESH:C538261|UMLS:C1843687|Orphanet:334 owl:Class MONDO:0042962 biolink:NamedThing Slti-Salem syndrome tmpaxzxjjyw_mondo_relaxed.owl Slti Salem syndrome|hypogonadotropic hypogonadism alopecia|hypogonadism and frontoparietal alopecia MEDGEN:419036|MESH:C536673|GARD:0000324|UMLS:C2931284 owl:Class HP:0000083 biolink:NamedThing Renal insufficiency A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. tmpaxzxjjyw_mondo_relaxed.owl Renal failure in adulthood|Renal failure UMLS:C1839604|SNOMEDCT_US:42399005|UMLS:C1565489|SNOMEDCT_US:236423003|UMLS:C0035078|MSH:D051437 HP:0004723|HP:0000084 human_phenotype owl:Class HP:0003366 biolink:NamedThing Abnormal femoral neck/head morphology tmpaxzxjjyw_mondo_relaxed.owl Abnormal neck or head of thigh bone|Abnormality of the femoral neck or head region UMLS:C4025622 human_phenotype owl:Class MONDO:0019020 biolink:NamedThing PANDAS PANDAS is an acronym for Pediatric Autoimmune Neuropsychiatric Disorders Associated with a group A beta-hemolytic Streptococcal infection and applied to a subgroup of children with obsessive-compulsive disorder (OCD) and/or tic disorders. tmpaxzxjjyw_mondo_relaxed.owl pediatric autoimmune neuropsychiatric disorder associated with Streptococcus|pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections|pediatric autoimmune disorders associated with Streptococcus infections|pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections UMLS:CN205481|MESH:C537163|GARD:0007312|Orphanet:66624 owl:Class MONDO:0022481 biolink:NamedThing APO A-i deficiency tmpaxzxjjyw_mondo_relaxed.owl GARD:0000758 https://rarediseases.info.nih.gov/diseases/758/apo-a-i-deficiency owl:Class HP:0011974 biolink:NamedThing Myelofibrosis Replacement of bone marrow by fibrous tissue. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026987|SNOMEDCT_US:52967002 peter 2012-07-18T08:51:57Z human_phenotype owl:Class MONDO:0008655 biolink:NamedThing vestibulocochlear dysfunction, progressive tmpaxzxjjyw_mondo_relaxed.owl vestibulocochlear dysfunction, progressive|familial progressive vestibulocochlear dysfunction OMIM:193005|GARD:0005489|UMLS:C2931176|MESH:C536346 https://rarediseases.info.nih.gov/diseases/5489/vestibulocochlear-dysfunction-progressive owl:Class MONDO:0002371 biolink:NamedThing breast pericanalicular fibroadenoma A morphologic variant of breast fibroadenoma without clinical significance. It is characterized by circumferential proliferation of stromal cells around the ducts. This results in the formation of rounded ductal-epithelial structures. tmpaxzxjjyw_mondo_relaxed.owl pericanalicular breast fibroadenoma|pericanalicular fibroadenoma of the breast|breast pericanalicular fibroadenoma|pericanalicular fibroadenoma (morphologic abnormality)|pericanalicular fibroadenoma|pericanalicular fibroadenoma of breast UMLS:C0334497|ICDO:9012/0|NCIT:C4272|DOID:2639 owl:Class MONDO:0003904 biolink:NamedThing lung occult squamous cell carcinoma A squamous cell lung carcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. tmpaxzxjjyw_mondo_relaxed.owl occult squamous cell carcinoma of lung|occult squamous cell carcinoma of the lung|occult squamous cell lung carcinoma UMLS:C1335100|NCIT:C6686|DOID:6510 owl:Class GO:0016462 biolink:NamedThing pyrophosphatase activity Catalysis of the hydrolysis of a pyrophosphate bond between two phosphate groups, leaving one phosphate on each of the two fragments. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000119 biolink:NamedThing cerebellar Golgi cell Large intrinsic neuron located in the granule layer of the cerebellar cortex that extends its dendrites into the molecular layer where they receive contact from parallel fibers. The axon of the Golgi cell ramifies densely in the granule layer and enters into a complex arrangement with mossy fiber terminals and granule cell dendrites to form the cerebellar glomerulus. Llinas, Walton and Lang. In The Synaptic Organization of the Brain. 5th ed. 2004. tmpaxzxjjyw_mondo_relaxed.owl Golgi neuron|cerebellum Golgi cell|Golgi cell|cerebellar Golgi neuron cell owl:Class HGNC:9685 biolink:NamedThing PTPRZ1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008644 biolink:NamedThing velocardiofacial syndrome A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features. tmpaxzxjjyw_mondo_relaxed.owl deletion 22q11.2 syndrome|22q11 deletion syndrome|VCF-velocardiofacial syndrome|Shprintzen Vcf syndrome|Shprintzen syndrome|chromosome 22Q11.2 deletion syndrome|Vcf syndrome|velocardiofacial syndrome OMIM:192430|DOID:12583|UMLS:CN205308|ICD9:758.32|ICD10:Q93.81|Orphanet:567|MESH:D004062 owl:Class MONDO:0019843 biolink:NamedThing pituitary hormone deficiency secondary to a granulomatous disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206787|Orphanet:95617 owl:Class OBO:MFOMD_0000143 biolink:NamedThing major depressive episode The essential feature is a period of at least 2 weeks during which there is either depressed mood or the loss of interest or pleasure in nearly all activities. In children and adolescents, the mood may be irritable rather than sad. DSM-IV-TR (american Psychiatric Association) tmpaxzxjjyw_mondo_relaxed.owl The individuals must also experience at least four additional symptoms drawn from a list that includes changes in appetite or weight, sleep, and psychomotor activity; decreased energy; feelings of worthlessness or guilt; difficulty thinking, concentrating, or making decisions; or recurrent thoughts of death or suicidal ideation, plans, or attempts. DSM-IV-TR (american Psychiatric Association) owl:Class NCBITaxon:2732004 biolink:NamedThing Varidnaviria tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012950 biolink:NamedThing aneurysm, intracranial berry, 10 tmpaxzxjjyw_mondo_relaxed.owl ANIB10|aneurysm, intracranial BERRY, 10 MESH:C567237|OMIM:612587|UMLS:C2675484 owl:Class MONDO:0016712 biolink:NamedThing classic medulloblastoma Classic medulloblastoma is a histological variant of medulloblastoma, an embryonic malignancy, having a midline location, occurring most often in children and manifesting with variable symptoms such as headaches, nausea, vomiting and ataxia. tmpaxzxjjyw_mondo_relaxed.owl classic medulloblastoma ICD10:C71.6|UMLS:C1707400|Orphanet:251867|SCTID:699704002|OMIM:155255|NCIT:C54039 owl:Class ECTO:0000931 biolink:NamedThing exposure to environmental contaminant An exposure to environmental contaminant. tmpaxzxjjyw_mondo_relaxed.owl exposure to environmental contaminant owl:Class SO:0002072 biolink:NamedThing sequence_comparison A position or feature where two sequences have been compared. tmpaxzxjjyw_mondo_relaxed.owl INSDC_note:sequence_comparison|INSDC_feature:misc_feature|sequence comparison owl:Class MONDO:0004260 biolink:NamedThing peptic ulcer perforation Penetration of a peptic ulcer through the wall of duodenum or stomach allowing the leakage of luminal contents into the peritoneal cavity. tmpaxzxjjyw_mondo_relaxed.owl perforated peptic ulcer|peptic ulcer with perforation|acute peptic ulcer with perforation SCTID:79118000|DOID:752|UMLS:C0030925|UMLS:C0267291|MESH:D010439|EFO:1001389 owl:Class MONDO:0041536 biolink:NamedThing Far-East scarlet-like fever A severe inflammatory disease that occurs sporadically and in outbreaks in Russia and Japan, caused by Yersinia pseudotubuclosis infection, an organism that typically causes self-limiting gastroenteritis in Europe. tmpaxzxjjyw_mondo_relaxed.owl Izumi fever|FESLF UMLS:C0277513|SCTID:47277009 owl:Class GO:0022853 biolink:NamedThing active ion transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other up the solute's concentration gradient. This is carried out by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015400 biolink:NamedThing frontonasal arteriovenous malformation Frontonasal arteriovenous malformation is a rare vascular anomaly characterized by abnormal communication between arteries and veins, bypassing the capillary bed, located in the frontonasal area. It may present with intermittent nasal bleeding, blurred vision, pustule formation and/or disfigurement. Overlying skin may be of normal appearance or may manifest a red, pulsatile mass with local rise of temperature. Other features may include pain, ulceration, excessive growth and/or congestive heart failure. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:141168|ICD10:Q27.3 owl:Class MONDO:0009443 biolink:NamedThing autosomal recessive congenital ichthyosis 4B Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. tmpaxzxjjyw_mondo_relaxed.owl ichthyosis congenita, Harlequin type|harlequin ichthyosis|autosomal recessive congenital ichthyosis type 4B|harlequin type ichthyosis congenita|hi|'Harlequin fetus'|Harlequin fetus|ichthyosis fetalis, Harlequin type|ichthyosis congenita, Harlequin fetus type|ichthyosis, congenital, autosomal recessive 4B|ichthyosis, congenital, autosomal recessive type 4B|ARCI4B|harlequin type ichthyosis fetalis OMIM:242500|ICD10:Q80.4|UMLS:C0239849|GARD:0006568|SCTID:205548006|MedDRA:10019163|NCIT:C98934|DOID:0060713|Orphanet:457 owl:Class UBERON:0035041 biolink:NamedThing deep temporal artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009854 biolink:NamedThing peroneus tertius muscle, absence of tmpaxzxjjyw_mondo_relaxed.owl peroneus tertius muscle, absence of OMIM:261400 owl:Class MONDO:0006693 biolink:NamedThing cerebral arterial disease Pathological conditions of intracranial arteries supplying the cerebrum. These diseases often are due to abnormalities or pathological processes in the anterior cerebral artery; middle cerebral artery; and posterior cerebral artery. tmpaxzxjjyw_mondo_relaxed.owl MESH:D002539|DOID:3527|UMLS:C0007774|EFO:1000859 owl:Class MONDO:0010433 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 15 tmpaxzxjjyw_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 15|SLEB15 OMIM:300809 owl:Class MONDO:0021644 biolink:NamedThing esophageal varices without bleeding tmpaxzxjjyw_mondo_relaxed.owl esophageal varices without bleeding ICD9:456.1|SCTID:14223005|ICD10:I85.9|UMLS:C0267092|ICD10:I85.00 owl:Class HGNC:894 biolink:NamedThing AVP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011270 biolink:NamedThing prostate cancer, hereditary, 8 tmpaxzxjjyw_mondo_relaxed.owl predisposing for prostate cancer|prostate cancer, hereditary, 8|prostate cancer, hereditary, type 8|HPC8 OMIM:602759|UMLS:C1864472|MESH:C566426 owl:Class MONDO:0013820 biolink:NamedThing intellectual disability, autosomal dominant 15 Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCB1 gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal dominant type 15|intellectual disability, autosomal dominant 15|SMARCB1-related BAFopathy|autosomal dominant mental retardation 15|MRD15|CSS3|autosomal dominant intellectual disability 15|Coffin-Siris syndrome caused by mutation in SMARCB1|mental retardation, autosomal dominant 15|SMARCB1 Coffin-Siris syndrome|COFFIN-SIRIS syndrome 3|mental retardation, autosomal dominant type 15 OMIM:614608|DOID:0070045|Orphanet:1465|UMLS:C3553248 owl:Class MONDO:0000237 biolink:NamedThing erysipeloid An infection caused by Erysipelothrix rhusiopathiae that is almost wholly restricted to persons who in their occupation handle infected fish, shellfish, poultry, or meat. Three forms of this condition exist: a mild localized form manifested by local swelling and redness of the skin; a diffuse form that might present with fever; and a rare systemic form associated with endocarditis. tmpaxzxjjyw_mondo_relaxed.owl MESH:D004887|DOID:0050061|UMLS:C1276801|ICD10:A26|SCTID:400105005 Editor note: consider merging with parent owl:Class MONDO:0011694 biolink:NamedThing spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia, tremor and cognitive impairment. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia type 15|spinocerebellar ataxia type 15/16|spinocerebellar ataxia 16 (formerly)|spinocerebellar ataxia 16|SCA15|SCA16 (formerly)|SCA15/16|spinocerebellar ataxia 15|spinocerebellar ataxia 16, formerly ICD10:G11.2|UMLS:C4274322|OMIM:606658|MESH:C564685|DOID:0050965|Orphanet:98769|UMLS:C1847725|GARD:0010477|SCTID:716724006 In orphanet, SCA16 is obsoleted in favor of 15/16 owl:Class PATO:0002254 biolink:NamedThing flattened A quality inhering in a bearer by virtue of the bearer's surface becoming more extended in a plane. tmpaxzxjjyw_mondo_relaxed.owl compressed owl:Class MONDO:0018122 biolink:NamedThing digital anomalies-intellectual disability-short stature syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.2|UMLS:CN204494|Orphanet:352487 owl:Class MONDO:0012006 biolink:NamedThing craniosynostosis with ocular abnormalities and hallucal defects tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis with ocular abnormalities and hallucal defects UMLS:C1842316|MESH:C564263|OMIM:608279 owl:Class CL:2000022 biolink:NamedThing cardiac septum cell Any native cell that is part of a cardiac septum. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-24T23:17:07Z cell owl:Class MONDO:0019583 biolink:NamedThing localized lichen myxedematosus with mixed features of different subtypes Localized lichen myxedematosus (LM) with mixed features of different subtypes is a form of atypical lichen myxedematosus, characterized by mixed features of the 5 subtypes of localized LM which are: discrete papular LM, acral persistent papular mucinosis, self-healing papular mucinosis, papular mucinosis of infancy, and nodular LM. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:90398|ICD10:L98.5 owl:Class MONDO:0023006 biolink:NamedThing doxorubicin induced cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl GARD:0006285 https://rarediseases.info.nih.gov/diseases/6285/doxorubicin-induced-cardiomyopathy owl:Class MONDO:0019726 biolink:NamedThing type II mixed cryoglobulinemia Type II mixed cryoglobulinemia, a relatively rare clinico-serological subtype of mixed cryoglobulinemia (MC), is an immune complex disorder characterized by purpura, weakness and arthralgia and defined immunochemically by cryoglobulins composed of polyclonal IgGs (autoantigens) and monoclonal IgM (autoantibody). tmpaxzxjjyw_mondo_relaxed.owl MC type II Orphanet:93554|UMLS:CN206633|ICD10:D89.1 owl:Class CL:0002333 biolink:NamedThing neural crest derived fat cell A fat cell derived from a neural crest cell. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-09-20T02:25:25Z cell owl:Class CL:0002108 biolink:NamedThing CD38-negative IgG memory B cell A CD38-negative IgG memory B cell is a IgG-positive class switched memory B cell that has class switched and expresses IgG on the cell surface with the phenotype CD38-negative, IgD-negative, and IgG-positive. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0032689 biolink:NamedThing retinitis pigmentosa 85 tmpaxzxjjyw_mondo_relaxed.owl RP85|RETINITIS PIGMENTOSA 85 OMIM:618345 owl:Class MONDO:0017048 biolink:NamedThing pseudomyxoma peritonei Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis. tmpaxzxjjyw_mondo_relaxed.owl syndrome of pseudomyxoma peritonei|Adenomucinosis|pseudomyxoma peritonei|gelatinous ascites|Myxoma peritonei|peritoneal cavity pseudomyxoma peritonei|well differentiated peritoneal mucinous adenocarcinoma|pseudomyxoma peritonei (morphologic abnormality)|mucinous ascites|PMP Orphanet:26790|GARD:0007488|MedDRA:10037138|DOID:3559|ICDO:8480/6|ICD10:C78.6|NCIT:C3345|GARD:0002448|UMLS:C0033822|MESH:D011553|SCTID:307601000|EFO:0007456 owl:Class MONDO:0008614 biolink:NamedThing suppressor of tumorigenicity 3 tmpaxzxjjyw_mondo_relaxed.owl tumor-suppressor Gene, Hela cell type|suppressor of tumorigenicity 3|cervical carcinoma, tumor-suppressor Gene involved 1N|ST3 OMIM:191181|UMLS:C1860658 owl:Class MONDO:0060713 biolink:NamedThing deafness, congenital heart defects, and posterior embryotoxon tmpaxzxjjyw_mondo_relaxed.owl DCHE|deafnes, congenital heart defects, and posterior embryotoxon MESH:C566604|OMIM:617992 owl:Class MONDO:0029141 biolink:NamedThing Usher syndrome, type 4 tmpaxzxjjyw_mondo_relaxed.owl Usher syndrome, type IV|USH4 OMIM:618144 owl:Class MONDO:0011662 biolink:NamedThing pathological gambling A disorder characterized by a preoccupation with gambling and the excitement that gambling with increasing risk provides. Pathological gamblers are unable to cut back on their gambling, despite the fact that it may lead them to lie, steal, or lose a significant relationship, job, or educational opportunity. tmpaxzxjjyw_mondo_relaxed.owl pathological gambling|gambling, pathologic|compulsive gambling ICD9:312.31|EFO:1001926|DOID:12399|NCIT:C94335|SCTID:18085000|MESH:D005715|ICD10:F63.0|OMIM:606349 owl:Class MONDO:0017936 biolink:NamedThing benign Samaritan congenital myopathy Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:324581|ICD10:G71.2 owl:Class MONDO:0007811 biolink:NamedThing ichthyosis-cheek-eyebrow syndrome Ichthyosis-cheek-eyebrow syndrome is characterised by ichthyosis, prominent full cheeks and sparse lateral eyebrows. It has been described in several individuals from four generations of one family. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl Ice syndrome|ichthyosis--cheek--eyebrow syndrome|Sidransky Feinstein Goodman syndrome|Sidransky-Feinstein-Goodman syndrome|ichthyosis cheek eyebrow syndrome OMIM:146720|SCTID:716097001|Orphanet:2267|MESH:C536084|GARD:0002947 owl:Class GO:0035461 biolink:NamedThing vitamin transmembrane transport The process in which a vitamin is transported across a membrane. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. tmpaxzxjjyw_mondo_relaxed.owl vitamin membrane transport owl:Class MONDO:0006395 biolink:NamedThing rectal tubulovillous adenoma A neoplasm that arises from the glandular epithelium of the rectal mucosa. It is characterized by tubular and villous architectural patterns. The neoplastic glandular cells have dysplastic features. tmpaxzxjjyw_mondo_relaxed.owl Villotubular adenoma of rectum|rectal Villotubular adenoma|Villotubular adenoma of the rectum|tubulovillous adenoma of the rectum|rectal tubulovillous adenoma|tubulovillous adenoma of rectum UMLS:C1335691|EFO:1000505|SCTID:448428002|NCIT:C5620 owl:Class MONDO:0016846 biolink:NamedThing distal 22q11.2 microduplication syndrome Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported. tmpaxzxjjyw_mondo_relaxed.owl distal dup(22)(q11.2)|distal trisomy 22q11.2 SCTID:764524005|ICD10:Q92.3|Orphanet:261337|UMLS:CN202187 owl:Class MONDO:0020477 biolink:NamedThing progeria-associated arthropathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99706 owl:Class MONDO:0000259 biolink:NamedThing asymptomatic dengue tmpaxzxjjyw_mondo_relaxed.owl DOID:0050143 owl:Class MONDO:0011599 biolink:NamedThing birdshot chorioretinopathy Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia. tmpaxzxjjyw_mondo_relaxed.owl birdshot chorioretinitis|Bscr|vitiliginous choroiditis|birdshot chorioretinopathy|birdshot retinochoroiditis|multiple small, cream-colored lesions, symmetrically scattered mainly around the optic disk|birdshot retinochoroidopathy|BSCR ICD10:H30.1|Orphanet:179|UMLS:C1853959|SCTID:231981005|UMLS:C0339402|MESH:C537630|OMIM:605808|DOID:0111079|GARD:0005926 https://rarediseases.info.nih.gov/diseases/5926/birdshot-chorioretinopathy owl:Class NCBITaxon:122378 biolink:NamedThing Penaeus schmitti tmpaxzxjjyw_mondo_relaxed.owl Penaeus (Litopenaeus) schmitti|white shrimp|Litopenaeus schmitti GC_ID:1 ncbi_taxonomy owl:Class HGNC:8853 biolink:NamedThing PEX11B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018620 biolink:NamedThing hypothalamic adipsic hypernatraemia syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:443101|ICD10:E23.3|UMLS:CN237660 owl:Class MONDO:0008040 biolink:NamedThing transient myeloproliferative syndrome A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission. tmpaxzxjjyw_mondo_relaxed.owl Transient abnormal myelopoiesis associated with Down syndrome|MST|leukemia, transient|transient abnormal myelopoiesis|Mst|myeloproliferative syndrome, transient|TMD|TAM|transient myeloproliferative disease|transient myeloproliferative syndrome (disease)|transient leukemia|transient myeloproliferative disorder|transient myeloproliferative syndrome|transient leurkemia of Down syndrome transient myeloproliferative syndrome (disease) SCTID:721307000|UMLS:C1834582|HP:0005534|ONCOTREE:TAM|ICDO:9898/1|OMIM:159595|DOID:0060888|ICD10:D47.7|Orphanet:420611|GARD:0012765|NCIT:C82339|MESH:C563551 owl:Class MONDO:0016774 biolink:NamedThing lichen planus pigmentosus Lichen planus (LP) pigmentosus is a rare variant of cutaneous lichen planus characterized by the presence of hyperpigmented lichenoid lesions in sun-exposed or flexural areas of the body. tmpaxzxjjyw_mondo_relaxed.owl lichen planus pigmentosus inversus|LP pigmentosa|LP pigmentosus|lichen planus pigmentosa UMLS:C0406366|GARD:0010816|SCTID:717061002|Orphanet:254463|ICD10:L43.8 https://rarediseases.info.nih.gov/diseases/10816/lichen-planus-pigmentosus owl:Class MONDO:0018070 biolink:NamedThing familial multiple fibrofolliculoma Familial multiple fibrofolliculoma is a genodermatosis characterised by the presence of multiple hamartomas of the hair follicle. It has been described in one family so far. tmpaxzxjjyw_mondo_relaxed.owl multiple fibrofolliculoma familial GARD:0003831|SCTID:723361006|UMLS:CN204388|Orphanet:338|UMLS:C4509837 https://rarediseases.info.nih.gov/diseases/3831/multiple-fibrofolliculoma-familial owl:Class MONDO:0010067 biolink:NamedThing splenoportal vascular anomalies tmpaxzxjjyw_mondo_relaxed.owl splenoportal vascular anomalies MESH:C562761|SCTID:234131004|OMIM:271500 owl:Class MONDO:0006847 biolink:NamedThing malignant lymphatic vessel tumor Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels. tmpaxzxjjyw_mondo_relaxed.owl EFO:1001032 Editor note: do not axiomatize as cancer of lymphatic vessel owl:Class MONDO:0017191 biolink:NamedThing sporadic pheochromocytoma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:276624|UMLS:CN202631|ICD10:C74.1|ICD10:D35.0 owl:Class MONDO:0015378 biolink:NamedThing fourth branchial cleft anomaly tmpaxzxjjyw_mondo_relaxed.owl fourth branchial cleft cyst|fourth branchial cleft fistula ICD10:Q18.0|SCTID:707234001|Orphanet:141037 owl:Class MONDO:0056805 biolink:NamedThing benign peripheral nerve granular cell tumor A benign granular cell tumor that involves the nerve. tmpaxzxjjyw_mondo_relaxed.owl benign granular cell tumor of peripheral nerve|benign granular cell neoplasm of the peripheral nerve|nerve benign granular cell tumor|benign peripheral nerve granular cell neoplasm|benign granular cell tumor of nerve|benign granular cell tumor of the peripheral nerve|benign peripheral nerve granular cell tumor|benign granular cell neoplasm of peripheral nerve NCIT:C5502|UMLS:C1332530 owl:Class NCBITaxon:28314 biolink:NamedThing Aleutian mink disease virus tmpaxzxjjyw_mondo_relaxed.owl Aleutian disease virus|AMDV|Aleutian mink disease parvovirus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007458 biolink:NamedThing digitotalar dysmorphism; ulnar drift, hereditary tmpaxzxjjyw_mondo_relaxed.owl ulnar drift, hereditary|digitotalar dysmorphism UMLS:C1852085|OMIM:126050|SCTID:715314008 owl:Class MONDO:0032800 biolink:NamedThing robinow syndrome, autosomal recessive 2 tmpaxzxjjyw_mondo_relaxed.owl RRS2|ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 OMIM:618529 owl:Class MONDO:0000983 biolink:NamedThing exhibitionism A disorder characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger. tmpaxzxjjyw_mondo_relaxed.owl DOID:10236|SCTID:58349009|MESH:D005084|ICD10:F65.2|ICD9:302.4|NCIT:C94352 owl:Class MONDO:0020632 biolink:NamedThing epileptic encephalopathy, infantile or early childhood, 3 tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, infantile or early childhood, 3|IECEE3 UMLS:CN248521|OMIM:618012 owl:Class MONDO:0011047 biolink:NamedThing deafness-epiphyseal dysplasia-short stature syndrome This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit). tmpaxzxjjyw_mondo_relaxed.owl deafness, femoral epiphyseal dysplasia, short stature and developmental delay|growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction|deafness, epiphyseal dysplasia, short stature|chitty-Hall-Baraitser syndrome MESH:C535928|OMIM:601351|UMLS:C1832438|SCTID:716238003|GARD:0001688|Orphanet:3218 owl:Class HGNC:15840 biolink:NamedThing KMT2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009111 biolink:NamedThing dihydropyrimidinuria Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity. tmpaxzxjjyw_mondo_relaxed.owl Dph deficiency|Dpys deficiency|dihydropyrimidinase deficiency|DPYSD|dihydropyrimidinuria ICD9:277.2|GARD:0012347|Orphanet:38874|ICD10:E79.8|DOID:0111629|OMIM:222748|SCTID:238014002 owl:Class MONDO:0024613 biolink:NamedThing bipolar depression The depressive stage of bipolar disorder. tmpaxzxjjyw_mondo_relaxed.owl bipolar depression|manic-depressive - now depressed|bipolar affective disorder, current episode depression SCTID:191627008|NCIT:C34424 owl:Class MONDO:0005837 biolink:NamedThing mandibular cancer A malignant neoplasm involving the mandible tmpaxzxjjyw_mondo_relaxed.owl mandible cancer|malignant neoplasm of inferior maxilla|malignant mandible neoplasm|malignant neoplasm of lower jaw bone|cancer of mandible|mandibular neoplasm|malignant neoplasm of mandible|neoplasm of mandible MESH:D008339|ICD9:170.1|EFO:0007356|SCTID:448668007|NCIT:C35178|ICD10:C41.1|DOID:2338 owl:Class MONDO:0020395 biolink:NamedThing valvar pulmonary stenosis A congenital cardiovascular malformation of the pulmonary valve in which there is narrowing or stricture (obstruction to flow). tmpaxzxjjyw_mondo_relaxed.owl ICD9:746.02|MedDRA:10037450|Orphanet:99054|ICD10:Q22.1 owl:Class HGNC:20001 biolink:NamedThing PCSK9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0010007 biolink:NamedThing His-Purkinje system cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017533 biolink:NamedThing postaxial polydactyly type B, unilateral tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203264|Orphanet:295167|ICD10:Q69.0 owl:Class MONDO:0019674 biolink:NamedThing postaxial polydactyly type B tmpaxzxjjyw_mondo_relaxed.owl PAPB Orphanet:93335|ICD10:Q69.0|OMIM:174200|SCTID:715707008|UMLS:C1868120 owl:Class MONDO:0002863 biolink:NamedThing rhabdomyosarcoma with mixed embryonal and alveolar features A rhabdomyosarcoma composed of embryonic and alveolar components. It is characterized by the presence of spindle cells with myoblastic differentiation, a myxoid stroma, and fibrous septa. These tumors were previously considered variants of alveolar rhabdomyosarcoma. The lack of PAX3-FOXO1 fusions in most of these tumors suggests that are biologically and clinically related to embryonal rhabdomyosarcoma. tmpaxzxjjyw_mondo_relaxed.owl mixed type rhabdomyosarcoma|mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma|rhabdomyosarcoma with mixed embryonal and alveolar features|mixed alveolar rhabdomyosarcoma|mixed type alveolar rhabdomyosarcoma DOID:4065|UMLS:C1709053|UMLS:C0334481|NCIT:C4259|ICDO:8902/3 owl:Class HGNC:11013 biolink:NamedThing SLC30A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022794 biolink:NamedThing chromosome 8 deletion A structural cytogenetic abnormality characterized by partial or complete loss of chromosome 8. tmpaxzxjjyw_mondo_relaxed.owl del(8)|Anomaly of chromosome pair 8|chromosome 8 deletion|loss of chromosome 8|Deletions of chromosome 8 2022-04-01 GARD:0012070 This will be obsoleted in the 2022-04-01 release. The term will be split and the new IDs for this term will be https://github.com/monarch-initiative/mondo/issues/3477 (chromosome 8 disorder) and MONDO:0700035 (monosomy chromosome 8). owl:Class MONDO:0014077 biolink:NamedThing cobblestone lissencephaly without muscular or ocular involvement Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures. tmpaxzxjjyw_mondo_relaxed.owl LIS5|lissencephaly 5|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement|lissencephaly type 5|cobblestone lissencephaly without muscular or ocular involvement|lissencephaly type 2 without muscular or ocular involvement ICD10:Q04.3|UMLS:C3554657|OMIM:615191|Orphanet:352682 owl:Class MONDO:0011737 biolink:NamedThing parkinson disease 10 tmpaxzxjjyw_mondo_relaxed.owl PARK10|Parkinson disease 10|Parkinson disease, Age at onset of Orphanet:2828|MESH:C564653|OMIM:606852|UMLS:C1847360 owl:Class MONDO:0043723 biolink:NamedThing Monteggia's fracture Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius. tmpaxzxjjyw_mondo_relaxed.owl monteggia fracture dislocation|monteggia's fracture|monteggia's dislocation|fracture, Monteggia's|Monteggia fracture|Monteggias fracture|monteggia fracture SCTID:123973009|EFO:1001373|MESH:D009011 owl:Class MONDO:0030116 biolink:NamedThing silver-russell syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl Uniparental Disomy, Maternal, Chromosome 7|SRS2|silver-russell syndrome 2|SILVER-RUSSELL SYNDROME 2 OMIM:618905 owl:Class HGNC:3801 biolink:NamedThing FOXC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0008974 biolink:NamedThing apocrine gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002466 biolink:NamedThing intestine secretion tmpaxzxjjyw_mondo_relaxed.owl owl:Class N60b92b34536e4640bc986a71b52c3be2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:CHR_9606-chr13p biolink:NamedThing 13p (Human) tmpaxzxjjyw_mondo_relaxed.owl 17700000 0 hg38 owl:Class UBERON:0009577 biolink:NamedThing metencephalon sulcus limitans tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010487 biolink:NamedThing intellectual disability, X-linked 99 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the USP9X gene. tmpaxzxjjyw_mondo_relaxed.owl MRX99|mental retardation, X-linked type 99|non-syndromic X-linked intellectual disability caused by mutation in USP9X|USP9X non-syndromic X-linked intellectual disability|intellectual disability, X-linked 99|mental retardation, X-linked 99|intellectual disability, X-linked type 99 UMLS:C3806746|OMIM:300919 owl:Class CL:0011111 biolink:NamedThing gonadotropin releasing neuron Neuroendocrine cells that are born in the nasal placode during embryonic development and migrate through the nose and forebrain to the hypothalamus, where they regulate reproduction. tmpaxzxjjyw_mondo_relaxed.owl GnRH-secreting neuron|GnRH neuron owl:Class MONDO:0016664 biolink:NamedThing drug-induced vasculitis A skin hypersensitivity reaction due to exposure to a pharmacologic substance that is characterized by raised purpuric lesions, red macules, hemorrhagic blisters and ulcerations. tmpaxzxjjyw_mondo_relaxed.owl drug induced cutaneous vasculitis|drug induced vasculitis NCIT:C112204|Orphanet:251325|UMLS:C3812646|ICD10:M31.8 owl:Class MONDO:0014930 biolink:NamedThing intellectual disability, autosomal recessive 56 Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 56|intellectual disability, autosomal recessive type 56|ZC3H14 autosomal recessive non-syndromic intellectual disability|autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14|intellectual disability, autosomal recessive 56|mental retardation, autosomal recessive type 56|MRT56 UMLS:C4310703|OMIM:617125 owl:Class CHEBI:77938 biolink:NamedThing barbiturate(1-) An organic anion obtained by removal of one of the methylene protons from barbituric acid. It is the major microspecies at pH 7.3 (according to Marvin v 6.2.0.). tmpaxzxjjyw_mondo_relaxed.owl 2,4,6-trioxohexahydropyrimidin-5-ide|barbiturate owl:Class HGNC:10907 biolink:NamedThing SLC11A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001942 biolink:NamedThing generalized anxiety disorder An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months. tmpaxzxjjyw_mondo_relaxed.owl GAD ICD10:F41.1|ICD9:300.02|DOID:14320|NCIT:C92622|SCTID:21897009|EFO:1001892 owl:Class MONDO:0002595 biolink:NamedThing vaccinia The cutaneous and occasional systemic reactions associated with vaccination using smallpox (variola) vaccine. tmpaxzxjjyw_mondo_relaxed.owl MESH:D014615|ICD9:999.0|UMLS:C0042214|SCTID:111852003|DOID:3298 owl:Class NCBITaxon:10245 biolink:NamedThing Vaccinia virus tmpaxzxjjyw_mondo_relaxed.owl vaccinia virus VV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0023692 biolink:NamedThing maple syrup urine disease type 1B A maple syrup urine disease caused by mutations in BCKDHB. tmpaxzxjjyw_mondo_relaxed.owl MSUD type IB|MSUD type 3 (formerly)|MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex|maple syrup urine disease type 1B OMIM:248600|GARD:0008597 https://rarediseases.info.nih.gov/diseases/8597/maple-syrup-urine-disease-type-1b owl:Class HGNC:6936 biolink:NamedThing MCCC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010880 biolink:NamedThing telangiectasia, hereditary hemorrhagic, type 2 Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1|ACVRL1 hereditary hemorrhagic telangiectasia|Osler Weber Rendu syndrome type 2|pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related|ORW2|HHT2|hereditary hemorrhagic telangiectasia type 2|telangiectasia, hereditary hemorrhagic, type 2|telangiectasia hereditary hemorrhagic type 2 Orphanet:774|OMIM:600376|GARD:0009901 https://rarediseases.info.nih.gov/diseases/9901/hereditary-hemorrhagic-telangiectasia-type-2 owl:Class MONDO:0001113 biolink:NamedThing Fiedler's myocarditis tmpaxzxjjyw_mondo_relaxed.owl fiedler myocarditis|idiopathic myocarditis|isolated (Fiedler's) myocarditis DOID:10778|ICD10:I40.1|UMLS:C0155689|ICD9:422.91|SCTID:266238009 owl:Class HGNC:26790 biolink:NamedThing WDR72 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0011755 biolink:NamedThing female labial swelling tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:1351 biolink:NamedThing Enterococcus faecalis tmpaxzxjjyw_mondo_relaxed.owl Streptococcus liquefaciens|Enterococcus proteiformis|Micrococcus ovalis|Streptococcus glycerinaceus|Micrococcus zymogenes|Enterocoque|Streptococcus faecalis GC_ID:11 NCBITaxon:1796631|NCBITaxon:657310|NCBITaxon:1219670 ncbi_taxonomy owl:Class MONDO:0009367 biolink:NamedThing McKusick-Kaufman syndrome McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations. tmpaxzxjjyw_mondo_relaxed.owl McKusick Kaufman syndrome|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation|MCKUSICK-Kaufman syndrome|hydrometrocolpos-postaxial polydactyly syndrome|Kaufman-Mckusick syndrome|McKusick-Kaufman syndrome|hydrometrocolpos syndrome|Kaufman McKusick syndrome|HMCS|MKKS UMLS:C0948368|GARD:0003427|ICD10:Q87.8|OMIM:236700|MedDRA:10052312|SCTID:702407009|MESH:C538159|DOID:0111255|Orphanet:2473|ICD9:758.89 https://rarediseases.info.nih.gov/diseases/3427/mckusick-kaufman-syndrome owl:Class MONDO:0054833 biolink:NamedThing charcot-marie-tooth disease, axonal, type 2DD tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, type 2Dd|Charcot-Marie-tooth disease, axonal, type 2DD|CMT2DD DOID:0111558|UMLS:CN248781|OMIM:618036|Orphanet:521414 owl:Class GO:0033342 biolink:NamedThing negative regulation of collagen binding Any process that stops, prevents, or reduces the frequency, rate or extent of collagen binding. tmpaxzxjjyw_mondo_relaxed.owl inhibition of collagen binding|down regulation of collagen binding|downregulation of collagen binding|down-regulation of collagen binding owl:Class OBO:CHR_9606-chr12q15-q21.1 biolink:NamedThing 12q15-q21.1 (Human) tmpaxzxjjyw_mondo_relaxed.owl hg38 owl:Class HGNC:19353 biolink:NamedThing SIN3A tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17098 biolink:NamedThing DICER1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001429 biolink:NamedThing land conversion process An anthropisation process during which terrestrial environments - natural or anthropised - or parts thereof are altered to facilitate human activities such as agriculture, settlement, or commerce. tmpaxzxjjyw_mondo_relaxed.owl land conversion|land development owl:Class N90ab398029d341509079faf1cd60fd8e biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0003071 biolink:NamedThing renal system process involved in regulation of systemic arterial blood pressure Renal process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. tmpaxzxjjyw_mondo_relaxed.owl renal control of blood pressure|renal regulation of systemic arterial blood pressure owl:Class MONDO:0012691 biolink:NamedThing LEOPARD syndrome 2 Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene. tmpaxzxjjyw_mondo_relaxed.owl leopard syndrome 2|Leopard syndrome type 2|LEOPARD syndrome 2|LPRD2 OMIM:611554|MESH:C537117|UMLS:C1969056|DOID:0080549|Orphanet:500 owl:Class UBERON:0004668 biolink:NamedThing fourth ventricle aperture tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004990 biolink:NamedThing mucosa of ascending colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:28510 biolink:NamedThing GLIS3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000678 biolink:NamedThing simultanagnosia An agnosia that is a loss of the ability to recgonize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060148|GARD:0011943 https://rarediseases.info.nih.gov/diseases/11943/simultanagnosia owl:Class MONDO:0014038 biolink:NamedThing colorectal cancer, susceptibility to, 12 Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene. tmpaxzxjjyw_mondo_relaxed.owl susceptibility to colorectal cancer 12|colorectal cancer, susceptibility to, type 12|colorectal cancer, susceptibility to, 12|CRCS12|colorectal cancer caused by mutation in POLE|POLE colorectal cancer|colorectal cancer, susceptibility to, on chromosome 12Q24 OMIM:615083 owl:Class N4277bf8e76f9489ba88b904bd72c01dc biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:34609 biolink:NamedThing Amblyomma maculatum tmpaxzxjjyw_mondo_relaxed.owl Gulf Coast tick GC_ID:1 ncbi_taxonomy owl:Class HP:0000713 biolink:NamedThing Agitation A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:24199005|UMLS:C0085631 human_phenotype owl:Class CL:1000435 biolink:NamedThing epithelial cell of lacrimal duct An epithelial cell that is part of the lacrimal duct. tmpaxzxjjyw_mondo_relaxed.owl FMA:70559 cell owl:Class HGNC:13446 biolink:NamedThing SLC2A9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class OBO:CHR_9606-chr15q25 biolink:NamedThing 15q25 (Human) tmpaxzxjjyw_mondo_relaxed.owl 88500000 78000000 hg38 owl:Class MONDO:0008090 biolink:NamedThing cyclic hematopoiesis A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever. tmpaxzxjjyw_mondo_relaxed.owl periodic neutropenia|neutropenia, periodic|cyclic agranulocytosis|cyclic hematopoiesis|dysplasia, myelocytic periodic|CN|neutropenia cyclic|cyclical neutropenia|CH|cyclic neutropenia MedDRA:10053176|GARD:0006229|OMIM:162800|DOID:5339|ICD10:D70.4|MESH:C536227|NCIT:C3820|SCTID:191347008|ICD9:288.02|ICD10:D70|Orphanet:2686 owl:Class HGNC:10298 biolink:NamedThing RPL10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25538 biolink:NamedThing DARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0034936 biolink:NamedThing pars plana of ciliary body tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007402 biolink:NamedThing creatine phosphokinase, elevated serum tmpaxzxjjyw_mondo_relaxed.owl hyperCKemia, idiopathic|CPK, elevated serum|creatine phosphokinase, elevated serum OMIM:123320 owl:Class MONDO:0003392 biolink:NamedThing fallopian tube germ cell tumor A rare germ cell tumor that affects the fallopian tube. The vast majority of cases are teratomas. tmpaxzxjjyw_mondo_relaxed.owl fallopian tube germ cell tumor|fallopian tube germ cell cancer|fallopian tube germ cell neoplasm UMLS:C1517114|DOID:5324|NCIT:C40130 owl:Class ENVO:09000009 biolink:NamedThing concentration of carbon atom in water The concentration of a carbon atom when measured in water. tmpaxzxjjyw_mondo_relaxed.owl water carbon atom concentration owl:Class Nc6bc719a61a84c7a85cfca1a29f44449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:620 biolink:NamedThing APP tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10727 biolink:NamedThing SEMA3E tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035649 biolink:NamedThing nerve of penis tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0010977 biolink:NamedThing flexor pre-muscle mass tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4319 biolink:NamedThing GLI3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:583 biolink:NamedThing APC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013886 biolink:NamedThing nonprogressive cerebellar atxia with intellectual disability Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). tmpaxzxjjyw_mondo_relaxed.owl nonprogressive cerebellar ataxia with intellectual disability|cerebellar ataxia, nonprogressive, with mental retardation|cerebellar ataxia, nonprogressive, with intellectual disability|nonprogressive cerebellar ataxia with mental retardation|non-progressive cerebellar ataxia with intellectual disability|CANPMR|nonprogressive cerebellar atxia with intellectual disability SCTID:723441001|ICD10:G11.0|Orphanet:314647|UMLS:C3553661|OMIM:614756|DOID:0050998 owl:Class MONDO:0043576 biolink:NamedThing endarteritis Inflammation of the arterial intima. tmpaxzxjjyw_mondo_relaxed.owl tunica intima of artery inflammation|Endarteritides|endarteritis|inflammation of tunica intima of artery UMLS:C0014100|NCIT:C34581|SCTID:33806008|MESH:D004692|EFO:0009084 owl:Class HP:0010316 biolink:NamedThing Ebstein anomaly of the tricuspid valve Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. tmpaxzxjjyw_mondo_relaxed.owl Ebstein's malformation|Ebstein's anomaly|Ebstein's anomaly of the tricuspid valve ICD-10:Q22.5|MSH:D004437|UMLS:C0013481|EPCC:06.01.34|SNOMEDCT_US:204357006 Ebstein's anomaly is often associated with a hypoplastic right ventricle, patent foramen ovale, and a degree of cyanosis dependent on the amount if inadequacy of the tricuspid valve. Ebstein's anomaly may be associated with Wolf-Parkinson-White syndrome or other arrythmias. peter 2009-07-14T11:12:07Z HP:0006674 human_phenotype owl:Class UBERON:0004688 biolink:NamedThing costo-cervical trunk tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001635 biolink:NamedThing Congestive heart failure The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. tmpaxzxjjyw_mondo_relaxed.owl CHF|Cardiac failure|Chronic heart failure|Cardiac failures|Cardiac insufficiency|Heart failure UMLS:C0018802|SNOMEDCT_US:42343007|UMLS:C0018801|MSH:D006333|SNOMEDCT_US:84114007 HP:0006686 human_phenotype owl:Class HGNC:4707 biolink:NamedThing GYS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3444 biolink:NamedThing ERF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016421 biolink:NamedThing toxic oil syndrome Toxic oil syndrome is a rare intoxication, due to consumption of a rapeseed oil denatured with aniline 2%, characterized by generalized vascular lesions affecting all organs and vessels (including veins and arteries) and presenting with severe incapacitating myalgias, marked peripheral eosinophilia and pulmonary infiltrates. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:227972|SCTID:239910001|MedDRA:10051222 owl:Class MONDO:0014760 biolink:NamedThing TFRC-related combined immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 46|combined immunodeficiency due to TFRC deficiency|Cid due to TFRC deficiency|immunodeficiency type 46|IMD46 OMIM:616740|Orphanet:476113|UMLS:C4225219 owl:Class Ndc99d94e917b49f68c22bcf7b0807bb8 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl Nb41c170ae1a248c8a5b5fc8d3224cd32 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:20422 biolink:NamedThing POLR1D tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8079 biolink:NamedThing FRMD7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000499 biolink:NamedThing non-arteritic anterior ischemic optic neuropathy tmpaxzxjjyw_mondo_relaxed.owl nonarteritic anterior ischemic optic neuropathy|NAION|non-arteritic aion DOID:0050864|UMLS:C1852242|Orphanet:415300 owl:Class MONDO:0010492 biolink:NamedThing pituitary adenoma, growth hormone-secreting, 2 Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene. tmpaxzxjjyw_mondo_relaxed.owl pituitary gland adenoma caused by mutation in GPR101|pituitary adenoma, growth hormone-secreting, 2|pituitary adenoma 2, Growth hormone-secreting|PAGH2|pituitary adenoma, Growth hormone-secreting, type 2|PITA2|acromegaly, X-linked|acromegaly due to pituitary adenoma 2|pituitary adenoma 2, growth hormone-secreting|GPR101 pituitary gland adenoma Orphanet:963|UMLS:C4012409|OMIM:300943 owl:Class MONDO:0014671 biolink:NamedThing neuropathy, hereditary motor and sensory, type 6B Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene. tmpaxzxjjyw_mondo_relaxed.owl HMSN6B|neuropathy, hereditary motor and sensory, type 6B|SLC25A46 hereditary motor and sensory neuropathy type 6|Charcot-Marie-Tooth disease, type 6B|hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46|HMSN 6B|CMT6B|neuropathy, hereditary motor and sensory, type VIB EFO:0009075|UMLS:C4225302|OMIM:616505|Orphanet:90120 owl:Class HGNC:25198 biolink:NamedThing SLC25A46 tmpaxzxjjyw_mondo_relaxed.owl owl:Class N7444415fe8ee447e8d022dab434c7605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl CL:0000604 biolink:NamedThing retinal rod cell One of the two photoreceptor cell types of the vertebrate retina. In rods the photopigment is in stacks of membranous disks separate from the outer cell membrane. Rods are more sensitive to light than cones, but rod mediated vision has less spatial and temporal resolution than cone vision. tmpaxzxjjyw_mondo_relaxed.owl FMA:67747|CALOHA:TS-0870|BTO:0001024 cell owl:Class MONDO:0015443 biolink:NamedThing chromosome 8-derived supernumerary ring/marker Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome. tmpaxzxjjyw_mondo_relaxed.owl rose cluster 8|Ring chromosome 8 syndrome|supernumerary ring/marker 8|r(8) syndrome|chromosome 8 ring|Ring 8|ring chromosome 8|R8 GARD:0001347|MESH:C537824|SCTID:715983001|ICD10:Q93.2|UMLS:CN036129|GTR:AN0101479|NCIT:C121988|GTR:AN0101480|Orphanet:1450 owl:Class HP:0002098 biolink:NamedThing Respiratory distress Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. tmpaxzxjjyw_mondo_relaxed.owl Respiratory difficulties|Breathing difficulties|Labored breathing SNOMEDCT_US:230145002|UMLS:C0013404|SNOMEDCT_US:271825005|UMLS:C0476273|MSH:D004417|SNOMEDCT_US:267036007 HP:0002880 human_phenotype owl:Class HGNC:20653 biolink:NamedThing SLC9A9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024547 biolink:NamedThing pancreatic agenesis 1 Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene. tmpaxzxjjyw_mondo_relaxed.owl pancreatic agenesis caused by mutation in PDX1|pancreatic agenesis 1|Pagen|pancreatic hypoplasia, congenital|PAGEN1|PDX1 pancreatic agenesis UMLS:C1850096|Orphanet:2805|OMIM:260370|UMLS:C3891828 owl:Class MONDO:0014657 biolink:NamedThing primary ciliary dyskinesia 32 Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH3 gene. tmpaxzxjjyw_mondo_relaxed.owl primary ciliary dyskinesia caused by mutation in RSPH3|RSPH3 primary ciliary dyskinesia|CILD32|ciliary dyskinesia, primary, 32, without situs inversus|primary ciliary dyskinesia type 32|ciliary dyskinesia, primary, type 32|primary ciliary dyskinesia 32 without situs inversus|ciliary dyskinesia, primary, 32 UMLS:C4225311|OMIM:616481|Orphanet:244|DOID:0110603|ICD10:Q34.8 owl:Class HGNC:21054 biolink:NamedThing RSPH3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009420 biolink:NamedThing primary hypergonadotropic hypogonadism-partial alopecia syndrome This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia. tmpaxzxjjyw_mondo_relaxed.owl hypergonadotropic hypogonadism and partial alopecia|Al Awadi-Farag-Teebi syndrome SCTID:719275009|Orphanet:2232|ICD10:E29.1|MESH:C567109|ICD10:E28.3|OMIM:241090 owl:Class UBERON:0006170 biolink:NamedThing mesonephric capsule tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:15766 biolink:NamedThing ADNP tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0000041 biolink:NamedThing transition metal ion transport The directed movement of transition metal ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. tmpaxzxjjyw_mondo_relaxed.owl transition metal transport owl:Class MONDO:0007176 biolink:NamedThing helicoid peripapillary chorioretinal degeneration Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease. tmpaxzxjjyw_mondo_relaxed.owl helicoidal peripapillary chorioretinal Degeneration|SVEINSSON chorioretinal atrophy|Sveinsson chorioretinal atrophy|atrophia areata|SCRA|peripapillary chorioretinal Degeneration, Icelandic type MESH:C566236|Orphanet:86813|SCTID:724384008|OMIM:108985|DOID:0111228|ICD10:H31.2|UMLS:C1862382 owl:Class HGNC:11714 biolink:NamedThing TEAD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6282 biolink:NamedThing Onchocerca volvulus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011381 biolink:NamedThing dominant beta-thalassemia Dominant beta-thalassemia is a form of beta-thalassemia resulting in moderate to severe anemia. tmpaxzxjjyw_mondo_relaxed.owl dyserythropoietic Anemia, congenital, Irish or Weatherall type|inclusion body beta-thalassemia|beta-thalassemia, dominant inclusion body type|thalassemia-beta, dominant inclusion-body UMLS:C1858990|MESH:C565834|ICD10:D56.1|UMLS:C4274391|Orphanet:231226|SCTID:716682000|OMIM:603902 owl:Class MONDO:0014519 biolink:NamedThing chronic mountain sickness, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl chronic mountain sickness, susceptibility to|Monge disease UMLS:C0274294|OMIM:616182 owl:Class UBERON:0009132 biolink:NamedThing peroneus tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002253 biolink:NamedThing epithelial cell of large intestine An epithelial cell of the large intestine. tmpaxzxjjyw_mondo_relaxed.owl epithelial cell of colon BTO:0004297|FMA:256157 tmeehan 2010-09-08T09:28:22Z CL:1000292 cell owl:Class HP:0100034 biolink:NamedThing Motor tics Movement-based tics affecting discrete muscle groups. tmpaxzxjjyw_mondo_relaxed.owl MSH:D020323|UMLS:C0751900 doelkens 2010-06-10T12:13:57Z human_phenotype owl:Class HP:0002185 biolink:NamedThing Neurofibrillary tangles Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. tmpaxzxjjyw_mondo_relaxed.owl Paired helical filaments|Neurofibrillary tangles composed of disordered microtubules in neurons MSH:D016874|SNOMEDCT_US:85775002|UMLS:C0085400 HP:0007070|HP:0003132 human_phenotype owl:Class UBERON:0003394 biolink:NamedThing mesentery of hindgut tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005672 biolink:NamedThing blastomycosis Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body.The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant. tmpaxzxjjyw_mondo_relaxed.owl North American blastomycosis|blastomycotic infection|Blastomyces dermatitidis infection|infection by Blastomyces dermatitidis|Blastomyces dermatitidis infectious disease|Blastomyces dermatitidis disease or disorder|Chicago disease|Gilchrist's disease|Blastomyces dermatitidis caused disease or disorder ICD9:116|ICD10:B40|UMLS:C0005717|SCTID:191950004|GARD:0005931|CSP:1988-4119|ICD10:B40.9|EFO:0007174|UMLS:C0005716|ICD9:116.0|DOID:12663|MESH:D001759|NCIT:C34429 https://rarediseases.info.nih.gov/diseases/5931/blastomycosis owl:Class NCBITaxon:5039 biolink:NamedThing Blastomyces dermatitidis tmpaxzxjjyw_mondo_relaxed.owl Ajellomyces dermatitidis|Blastomycoides dermatitidis GC_ID:1 ncbi_taxonomy owl:Class MONDO:0011444 biolink:NamedThing Duane retraction syndrome 2 Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene. tmpaxzxjjyw_mondo_relaxed.owl Duane syndrome type 2|Duane retraction syndrome 2|Duane retraction syndrome type 2|Duane retraction syndrome caused by mutation in CHN1|DURS2|CHN1 Duane retraction syndrome GARD:0009966|OMIM:604356|Orphanet:233|SCTID:128083007 https://rarediseases.info.nih.gov/diseases/9966/duane-syndrome-type-2 owl:Class HGNC:1943 biolink:NamedThing CHN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6278 biolink:NamedThing KCNK3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:20423 biolink:NamedThing SPATA7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024533 biolink:NamedThing pulmonary hypertension, primary, 1 Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene. tmpaxzxjjyw_mondo_relaxed.owl Pph1 with Hht|pulmonary hypertension, primary, 1|PPH1|pulmonary arterial hypertension|primary pulmonary hypertension caused by mutation in BMPR2|PHT|pulmonary hypertension, primary, Fenfluramine-associated|pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia|BMPR2 primary pulmonary hypertension|pulmonary hypertension, primary, Dexfenfluramine-associated Orphanet:422|UMLS:C3203102|OMIM:178600 owl:Class MONDO:0700123 biolink:NamedThing SMARCC1-related BAFopathy Any BAFopathy in which the cause of the disease is a mutation in the SMARCC1 gene. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11104 biolink:NamedThing SMARCC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11285 biolink:NamedThing SRD5A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21701 biolink:NamedThing BRAT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014400 biolink:NamedThing retinitis pigmentosa 70 Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 70|RP70|retinitis pigmentosa caused by mutation in PRPF4|PRPF4 retinitis pigmentosa|retinitis pigmentosa type 70 UMLS:C4014681|DOID:0110392|ICD10:H35.5|OMIM:615922 owl:Class HGNC:17349 biolink:NamedThing PRPF4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class N0e3fd76e27d344168754b4ab639d8668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N80fc06ab6c18484a8b24f659873f0daa biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007932 biolink:NamedThing age related macular degeneration 2 An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. tmpaxzxjjyw_mondo_relaxed.owl macular Degeneration, Senile|ARMD2|maculopathy, age-related, 2|age related macular degeneration type 2|macular degeneration, age-related, 2|macular Degeneration, age-related, type 2 DOID:0110015|MESH:C562479|UMLS:C3495438|OMIM:153800 owl:Class UBERON:0035662 biolink:NamedThing parotid vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035546 biolink:NamedThing uveal vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HsapDv:0000082 biolink:NamedThing newborn human stage Immature stage that refers to a newborn who is under 32 days old. tmpaxzxjjyw_mondo_relaxed.owl neonatal stage|0-1 month|neonate owl:Class MONDO:0007765 biolink:NamedThing hyperostosis cranialis interna tmpaxzxjjyw_mondo_relaxed.owl HCIN|hyperostosis cranialis interna|hyperostosis cranialis interna (disease) hyperostosis cranialis interna (disease) HP:0005890|Orphanet:443098|MESH:C564168|OMIM:144755|ICD10:M85.2 owl:Class CHEBI:131699 biolink:NamedThing EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitor A DNA polymerase inhibitor that interferes with the action of a DNA-directed DNA polymerase (EC 2.7.7.7). tmpaxzxjjyw_mondo_relaxed.owl DNA polymerase III inhibitor|DNA nucleotidyltransferase inhibitor|EC 2.7.7.7 inhibitor|DNA replicase inhibitors|EC 2.7.7.7 inhibitors|DNA nucleotidyltransferase (DNA-directed) inhibitors|EC 2.7.7.7 (DNA-directed DNA polymerase) inhibitors|DNA polymerase beta inhibitors|deoxyribonucleate nucleotidyltransferase inhibitor|Tca DNA polymerase inhibitors|Taq DNA polymerase inhibitors|deoxynucleate polymerase inhibitor|Klenow fragment inhibitor|DNA replicase inhibitor|DNA polymerase I inhibitors|deoxyribonucleate nucleotidyltransferase inhibitors|deoxyribonucleic acid duplicase inhibitors|DNA nucleotidyltransferase inhibitors|DNA polymerase II inhibitor|DNA polymerase alpha inhibitors|deoxyribonucleic acid duplicase inhibitor|Taq Pol I inhibitors|deoxynucleoside-triphosphate:DNA deoxynucleotidyltransferase (DNA-directed) inhibitors|DNA-dependent DNA polymerase inhibitor|Taq DNA polymerase inhibitor|DNA polymerase I inhibitor|deoxyribonucleic polymerase inhibitors|DNA polymerase beta inhibitor|DNA duplicase inhibitor|Tca DNA polymerase inhibitor|Klenow fragment inhibitors|DNA polymerase III inhibitors|sequenase inhibitor|DNA duplicase inhibitors|sequenase inhibitors|deoxyribonucleic duplicase inhibitors|DNA polymerase II inhibitors|DNA polymerase inhibitors|deoxynucleoside-triphosphate:DNA deoxynucleotidyltransferase (DNA-directed) inhibitor|deoxyribonucleic acid polymerase inhibitor|deoxyribonucleic polymerase I inhibitors|deoxyribonucleic duplicase inhibitor|duplicase inhibitors|deoxyribonucleic acid polymerase inhibitors|deoxyribonucleic polymerase inhibitor|DNA polymerase gamma inhibitors|DNA polymerase alpha inhibitor|Taq Pol I inhibitor|DNA polymerase gamma inhibitor|DNA-directed DNA polymerase (EC 2.7.7.7) inhibitors|DNA polymerase inhibitor|DNA-dependent DNA polymerase inhibitors|DNA nucleotidyltransferase (DNA-directed) inhibitor|deoxynucleate polymerase inhibitors|DNA-directed DNA polymerase (EC 2.7.7.7) inhibitor|duplicase inhibitor|deoxyribonucleic polymerase I inhibitor owl:Class MONDO:0012561 biolink:NamedThing congenital anomalies of kidney and urinary tract 1 Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene. tmpaxzxjjyw_mondo_relaxed.owl renal hypodysplasia, nonsyndromic, 1|congenital anomaly of kidney and urinary tract caused by mutation in DSTYK|CAKUT1|DSTYK congenital anomaly of kidney and urinary tract|congenital anomalies of kidney and urinary tract 1 UMLS:C1835826|MESH:C563661|DOID:0080206|OMIM:610805 owl:Class HGNC:29683 biolink:NamedThing SLC25A32 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:121228 biolink:NamedThing Pthirus pubis tmpaxzxjjyw_mondo_relaxed.owl crab louse|genital louse|public louse|Phtirus pubis|Phthirus pubis GC_ID:1 ncbi_taxonomy owl:Class MONDO:0019395 biolink:NamedThing Hinman syndrome Hinman syndrome (HS) or non-neurogenic neurogenic bladder is a voiding dysfunction of the bladder of neuropsychological origin that is characterized by functional bladder outlet obstruction in the absence of neurologic deficits. tmpaxzxjjyw_mondo_relaxed.owl HAS|HS|non-neurogenic neurogenic bladder|Hinman-Allen syndrome|occult neuropathic bladder SCTID:429233001|ICD9:596.59|Orphanet:84085|ICD10:N32.8|UMLS:C1997362|UMLS:CN206094 owl:Class MONDO:0017197 biolink:NamedThing osteopathia striata-pigmentary dermopathy-white forelock syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterised by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. tmpaxzxjjyw_mondo_relaxed.owl Whyte-Murphy syndrome|osteopathia striata with pigmentary dermopathy including white forelock|Whyte Murphy syndrome|osteopathia striata associated with familial dermopathy and white forelock GARD:0005562|MESH:C536054|Orphanet:2779|ICD10:Q77.8|UMLS:C2931096 owl:Class MONDO:0008595 biolink:NamedThing trichoepitheliomas, multiple desmoplastic tmpaxzxjjyw_mondo_relaxed.owl trichoepitheliomas, multiple desmoplastic UMLS:C1860849|MESH:C566034|OMIM:190345 owl:Class UBERON:0035198 biolink:NamedThing superficial lymphatic vessel tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032913 biolink:NamedThing congenital heart defects, multiple types, 7 tmpaxzxjjyw_mondo_relaxed.owl CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7|CHTD7 OMIM:618780 owl:Class HGNC:3673 biolink:NamedThing FGF17 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12012 biolink:NamedThing TPM3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010497 biolink:NamedThing intellectual disability, X-linked 102 An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked 102|non-syndromic X-linked intellectual disability caused by mutation in DDX3X|mental retardation, X-linked 102|intellectual disability, X-linked type 102|mental retardation, X-linked type 102|MRX102|DDX3X non-syndromic X-linked intellectual disability|DDX3X-related intellectual disability GARD:0012715|OMIM:300958|NCIT:C129931|UMLS:C4085582 owl:Class HGNC:2745 biolink:NamedThing DDX3X tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010431 biolink:NamedThing Joubert syndrome 10 Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene. tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome 10|Joubert syndrome type 10|Joubert syndrome caused by mutation in OFD1|OFD1 Joubert syndrome|JBTS10 MESH:C567582|UMLS:C2749019|DOID:0110981|OMIM:300804|Orphanet:2754 owl:Class HGNC:24717 biolink:NamedThing PTCD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016697 biolink:NamedThing low grade ependymoma tmpaxzxjjyw_mondo_relaxed.owl ICD10:D43.2|Orphanet:251633|UMLS:CN201940 owl:Class MONDO:0023809 biolink:NamedThing Milner-Khallouf-Gibson syndrome tmpaxzxjjyw_mondo_relaxed.owl microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasia|Milner Khallouf Gibson syndrome GARD:0003670|UMLS:C2931503|MESH:C537473 https://rarediseases.info.nih.gov/diseases/3670/milner-khallouf-gibson-syndrome owl:Class UBERON:0003709 biolink:NamedThing circle of Willis tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008590 biolink:NamedThing tremor, hereditary essential, 1 Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene. tmpaxzxjjyw_mondo_relaxed.owl tremor familial essential, 1|ETM1|DRD3 essential tremor|essential tremor caused by mutation in DRD3|FET1|tremor, hereditary essential, 1|tremor, hereditary essential, type 1|tremor hereditary essential, 1|tremor, familial essential, 1 DOID:0111428|OMIM:190300|UMLS:C1860861|GARD:0005244|MESH:C536545 owl:Class UBERON:0035597 biolink:NamedThing profundal placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007306 biolink:NamedThing Klippel-Feil syndrome 1, autosomal dominant Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene. tmpaxzxjjyw_mondo_relaxed.owl cervical vertebral fusion, autosomal dominant|isolated Klippel-Feil syndrome caused by mutation in GDF6|GDF6 isolated Klippel-Feil syndrome|Kfs|KFS1|Klippel-Feil syndrome 1, autosomal dominant|Klippel-FEIL syndrome 1, autosomal dominant DOID:0080589|OMIM:118100|MESH:C536887|Orphanet:2345|UMLS:C1861689 owl:Class MONDO:0007221 biolink:NamedThing brachydactyly type C tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, Haws type|brachydactyly type C|brachydactyly, type C|brachydactyly Haws type UMLS:C1862103|OMIM:113100|MESH:C537093|Orphanet:93384|ICD10:Q73.8|DOID:0110970|GARD:0000986 owl:Class MONDO:0015000 biolink:NamedThing developmental and epileptic encephalopathy, 48 Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene. tmpaxzxjjyw_mondo_relaxed.owl DEE48|epileptic encephalopathy, early infantile, type 48|epileptic encephalopathy, early infantile, 48|early infantile epileptic encephalopathy caused by mutation in AP3B2|AP3B2 early infantile epileptic encephalopathy|epileptic encephalopathy, early infantile, 48; EIEE48|EIEE48 OMIM:617276|DOID:0080448|UMLS:C4310637 owl:Class HGNC:567 biolink:NamedThing AP3B2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000569 biolink:NamedThing cardiac mesenchymal cell A mesenchymal cell found in the developing heart and that develops into some part of the heart. These cells derive from intra- and extra-cardiac sources, including the endocardium, epicardium, neural crest, and second heart field. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CHEBI:35610 biolink:NamedThing antineoplastic agent A substance that inhibits or prevents the proliferation of neoplasms. tmpaxzxjjyw_mondo_relaxed.owl antineoplastic agents|anticancer agent|cytostatic|antineoplastic|anticancer agents owl:Class UBERON:0003712 biolink:NamedThing cavernous sinus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2707 biolink:NamedThing ACE tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0006541 biolink:NamedThing glutamine metabolic process The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid. tmpaxzxjjyw_mondo_relaxed.owl glutamine metabolism owl:Class UBERON:0005207 biolink:NamedThing tonsil capsule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100289 biolink:NamedThing Goldmann-Favre syndrome A vitreoretinal dystrophy characterized by early onset of night blindness, reduced bilateral visual acuity, and typical fundus findings (progressive pigmentary degenerative changes, macular edema, retinoschisis). tmpaxzxjjyw_mondo_relaxed.owl retinoschisis with early nyctalopia|Favre hyaloideoretinal Degeneration|Goldmann-Favre syndrome SCTID:232065000|Orphanet:53540|ICD10:H35.5|GARD:0010781 http://orcid.org/0000-0001-5208-3432 owl:Class CL:1001606 biolink:NamedThing foreskin keratinocyte Keratinocyte from foreskin. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-0385 owl:Class HGNC:17697 biolink:NamedThing SARS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001639 biolink:NamedThing formation of a solid aerosol from liquid material in an atmosphere A process during which microscopic solid particulates are formed from liquid materials in an atmosphere. tmpaxzxjjyw_mondo_relaxed.owl atmospheric formation of a solid aerosol|formation of solid particles from liquid material in an atmosphere|formation of a solid aerosol in an atmosphere|formation of a solid aerosol in the atmosphere owl:Class CHEBI:62803 biolink:NamedThing fuel additive Any additive that enhances the efficiency of fuel. tmpaxzxjjyw_mondo_relaxed.owl fuel additives|fuel enhancer owl:Class N9d91366cf0cf4014bdce8b00c5688192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl Ncee567eb9c3f4ab8a5fb8f6c1555a8f6 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl PO:0025527 biolink:NamedThing shoot system development stage A collective plant organ structure development stage (PO:0025338) that begins with the onset of the plant organ development stage (PO:0025339) and ends with either gametophyte senescent stage (PO:0025343) or sporophyte senescent stage (PO:0007017) or death. tmpaxzxjjyw_mondo_relaxed.owl PO_GIT:517 The shoot system (PO:0009006) develops fron the shoot apical meristem (PO:0020148) in the plant embryo (PO:0009009) in vascular plants. In lower plants the gametophore (PO:0030018) arises from a gametophore meristematic apical cell (PO:0030019) in the protonema (PO:0030003). Laurel_Cooper 2012-12-13T18:21:19Z plant_structure_development_stage owl:Class MONDO:0019137 biolink:NamedThing non-24-hour sleep-wake syndrome Non-24-hour sleep-wake disorder (non-24 disorder), also known as hypernychthemeral syndrome, is a circadian rhythm sleep disorder characterized by non-synchronization to a 24-hour day leading to insomnia and daytime sleepiness with sometimes severe associated manifestations. tmpaxzxjjyw_mondo_relaxed.owl circadian rhythm sleep disorder, free-running type|non 24 hour sleep wake disorder|hypernychthemeral syndrome|circadian rhythm sleep disorder, free running type|non-24 ICD10:G47.2|SCTID:230496009|GARD:0010949|Orphanet:73267|ICD10:G47.24 owl:Class MONDO:0013967 biolink:NamedThing peroxisome biogenesis disorder 14B tmpaxzxjjyw_mondo_relaxed.owl PEX14B|peroxisome biogenesis disorder type 14B|peroxisome biogenesis disorder 14B|PEX11B peroxisome biogenesis disorder Orphanet:44|UMLS:C3554055|Orphanet:772|OMIM:614920 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class NCBITaxon:6029 biolink:NamedThing Microsporidia tmpaxzxjjyw_mondo_relaxed.owl microsporidians|Microsporea|Microsporida|Microspora PMID:12142484|PMID:17051209|PMID:12684019|PMID:28808018|PMID:10563021|PMID:9892676|GC_ID:1 NCBITaxon:6031|NCBITaxon:6030 ncbi_taxonomy owl:Class MONDO:0017973 biolink:NamedThing non-classic congenital lipoid adrenal hyperplasia due to STAR deficency tmpaxzxjjyw_mondo_relaxed.owl ICD10:E25.0|Orphanet:325529 owl:Class UBERON:0000091 biolink:NamedThing bilaminar disc tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3809 biolink:NamedThing FOXF1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:26006 biolink:NamedThing TTC19 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:28887 biolink:NamedThing LEMD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011851 biolink:NamedThing migraine with or without aura, susceptibility to, 6 tmpaxzxjjyw_mondo_relaxed.owl migraine with or without aura, susceptibility to, 6|MGR6|migraine, familial hemiplegic, 4|migraine with or without aura, susceptibility to, type 6 Orphanet:569|MESH:C564385|OMIM:607516 owl:Class UBERON:0006565 biolink:NamedThing female urethral meatus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011477 biolink:NamedThing tooth agenesis, selective, 3 Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene. tmpaxzxjjyw_mondo_relaxed.owl tooth agenesis caused by mutation in PAX9|PAX9 tooth agenesis|hypodontia/oligodontia 3|tooth agenesis, selective, 3|STHAG3|tooth agenesis, selective, type 3 UMLS:C1970291|Orphanet:99798|MESH:C567036|OMIM:604625 owl:Class OBO:CP_0000027 biolink:NamedThing acidophilic cytoplasm Cytoplasm that exhibits a characteristic staining and color, red or pink, with Eosin stain. tmpaxzxjjyw_mondo_relaxed.owl eosinophilic tmeehan 2009-12-22T04:23:25Z cell owl:Class UBERON:0006862 biolink:NamedThing diaphysis of femur tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014367 biolink:NamedThing Aicardi-Goutieres syndrome 7 Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene. tmpaxzxjjyw_mondo_relaxed.owl AGS7|Aicardi-Goutieres syndrome caused by mutation in IFIH1|Aicardi-Goutieres syndrome 7|IFIH1 Aicardi-Goutieres syndrome|Aicardi-Goutieres syndrome type 7 OMIM:615846|Orphanet:51|UMLS:C3888244 owl:Class HGNC:10706 biolink:NamedThing SEC24D tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18025 biolink:NamedThing COA6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001974 biolink:NamedThing lamina propria of esophagus tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25360 biolink:NamedThing DDX59 tmpaxzxjjyw_mondo_relaxed.owl owl:Class N20ae829a56774b589bb21680e93eb7c0 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl CL:0002572 biolink:NamedThing vertebral mesenchymal stem cell A mesenchymal stem cell of the vertebrae. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-03-01T10:40:27Z cell owl:Class HGNC:15459 biolink:NamedThing P2RX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:12712 biolink:NamedThing VPS33B tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:42415 biolink:NamedThing Sigmodon hispidus tmpaxzxjjyw_mondo_relaxed.owl Sigmodon hispiedis|hispid cotton rat GC_ID:1 NCBITaxon:89247 ncbi_taxonomy owl:Class MONDO:0007307 biolink:NamedThing Charcot-Marie-Tooth disease type 1B A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized. tmpaxzxjjyw_mondo_relaxed.owl CMT1B|Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy|hereditary motor and sensory neuropathy 1B|CMT 1B|HMSN1B|hereditary motor and sensory neuropathy 1|MPZ Charcot-Marie-Tooth disease type 1|hereditary motor and sensory neuropathy IB|HMSN IB|Charcot-Marie-Tooth neuropathy, type 1B|Charcot-Marie-Tooth neuropathy type 1B|Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy|Charcot-Marie-Tooth disease, demyelinating, type 1B|HMSN 1B|Charcot Marie Tooth disease type 1B|Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ|HMSN1|autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B|Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B UMLS:C0270912|ICD10:G60.0|UMLS:C0007959|NCIT:C118782|Orphanet:101082|DOID:0110152|OMIM:118200|GARD:0001246 owl:Class HGNC:24212 biolink:NamedThing CISD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18618 biolink:NamedThing LRRK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001839 biolink:NamedThing bony labyrinth tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010585 biolink:NamedThing X-linked hypohidrotic ectodermal dysplasia An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin. tmpaxzxjjyw_mondo_relaxed.owl hypohidrotic ectodermal dysplasia, X-linked|ectodermal dysplasia, hypohidrotic, 1|X-linked anhidrotic ectodermal dysplasia|anhidrotic ectodermal dysplasia X-linked|X-linked hypohidrotic ectodermal dysplasia|CST syndrome|ectodermal dysplasia 1, hypohidrotic, X-linked|ectodermal dysplasia 1|hypohidrotic ectodermal dysplasia X-linked|Xlhed|Eda1|ectodermal dysplasia 1, hypohidrotic/hair/Tooth type, X-linked|ectodermal dysplasia, anhidrotic, X-linked|Christ-Siemens-Touraine syndrome|XHED ICD10:Q82.4|Orphanet:238468|OMIM:305100|Orphanet:181|SCTID:239007005|GARD:0010427 https://github.com/monarch-initiative/mondo/issues/4104 owl:Class UBERON:0004916 biolink:NamedThing anal sphincter tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17800 biolink:NamedThing FARSB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021727 biolink:NamedThing aberrant subclavian artery Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is oftendiscovered as an incidental finding (such as througha barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in childrenmay present asfeeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies.. tmpaxzxjjyw_mondo_relaxed.owl aberrant right subclavian artery|aberrant left subclavian artery|congenital malpositioned subclavian artery|congenital malposition of subclavian artery|aberrant subclavian artery SCTID:93353003|MESH:C535555|UMLS:C2936828|GARD:0005706 https://rarediseases.info.nih.gov/diseases/5706/aberrant-subclavian-artery owl:Class HGNC:25240 biolink:NamedThing ANO6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016459 biolink:NamedThing 2q23.1 microdeletion syndrome The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures. tmpaxzxjjyw_mondo_relaxed.owl monosomy 2q23.1|pseudo-Angelman syndrome|Del(2)(q23.1)|chromosome 2q23.1 microdeletion syndrome Orphanet:228402|GARD:0010998|OMIM:156200|SCTID:719657001|ICD10:Q93.5 Editor note: TODO check ORDO xref to OMIM https://rarediseases.info.nih.gov/diseases/10998/2q231-microdeletion-syndrome owl:Class MONDO:0014177 biolink:NamedThing myopia 22, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl myopia 22, autosomal dominant|MYP22 UMLS:C3809464|OMIM:615420 owl:Class HGNC:30881 biolink:NamedThing ALG13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18122 biolink:NamedThing SOX17 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0009015 biolink:NamedThing upper back skin tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009257 biolink:NamedThing galactose epimerase deficiency Galactose epimerase deficiency is a very rare, moderate to severe form of galactosemia characterized by moderate to severe signs of impaired galactose metabolism. tmpaxzxjjyw_mondo_relaxed.owl UDP-galactose-4-epimerase deficiency|GALE-D|uridine diphosphate galactose-4-epimerase deficiency|GALE deficiency|galactosemia 3|galactose epimerase deficiency|galactosemia type 3|epimerase deficiency galactosemia|Gale deficiency ICD10:E74.2|SCTID:8849004|Orphanet:352|OMIM:230350|DOID:0111458|Orphanet:79238|GARD:0005392 https://rarediseases.info.nih.gov/diseases/5392/galactose-epimerase-deficiency owl:Class HGNC:4116 biolink:NamedThing GALE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100083 biolink:NamedThing hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL. tmpaxzxjjyw_mondo_relaxed.owl familial thrombocytopenia with propensity to acute myelogenous leukemia|familial platelet disorder with associated myeloid malignancy|platelet disorder, familial, with associated myeloid malignancy|familial platelet syndrome with predisposition to acute myelogenous leukemia|hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|asprin-like platelet disorder|FPDMM|FPS/AML syndrome|FPD/AML syndrome|platelet disorder, aspirin-like|thrombocytopenia, familial, with propensity to acute myelogenous leukemia OMIM:601399 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0005393 biolink:NamedThing gout A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals. tmpaxzxjjyw_mondo_relaxed.owl gouty arthropathy|articular gout|chronic gout|gout|gouty arthritis|tophaceous gout|tophaceous disease SCTID:190828008|NCIT:C34650|ICD10:M10|ICD9:274|ICD10:M10.9|UMLS:C0003868|ICD9:274.9|UMLS:C0018099|MESH:D006073|ICD9:274.00|DOID:13189|EFO:0004274|ICD9:274.0 owl:Class MONDO:0012276 biolink:NamedThing generalized epilepsy-paroxysmal dyskinesia syndrome Generalized epilepsy-paroxysmal dyskinesia syndrome is characterised by the association of paroxysmal dyskinesia and generalised epilepsy (usually absence or generalised tonic-clonic seizures) in the same individual or family. The prevalence is unknown. Analysis in one of the reported families led to the identification of a causative mutation in the KCNMA1 gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl GEPD|generalized epilepsy and paroxysmal dyskinesia|epilepsy, generalized, with paroxysmal dyskinesia|PNKD3|paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy MESH:C563719|ICD10:G40.3|OMIM:609446|UMLS:C1836173|Orphanet:79137 owl:Class MONDO:0006469 biolink:NamedThing tibial adamantinoma An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases). tmpaxzxjjyw_mondo_relaxed.owl tibia adamantinoma|tibia long bone adamantinoma|adamantinoma of tibia|tibial adamantinoma morphology|tibial adamantinoma UMLS:C1273017|NCIT:C8461|DOID:6322|EFO:1000596|SCTID:281702006 owl:Class CL:2000081 biolink:NamedThing melanocyte of skin of face Any melanocyte of skin that is part of a skin of face. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-12-02T19:10:40Z cell owl:Class MONDO:0020739 biolink:NamedThing hypercalcemia, infantile, 1 tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive infantile hypercalcemia 1|HCINF1|hypercalcemia, infantile, 1 UMLS:C0268080|Orphanet:300547|OMIM:143880 owl:Class HGNC:8999 biolink:NamedThing PISD tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004934 biolink:NamedThing submucosa of body of stomach tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014401 biolink:NamedThing tall stature-scoliosis-macrodactyly of the great toes syndrome Tall stature-scoliosis-macrodactyly of the great toes syndrome is a rare, genetic, overgrowth or tall stature syndrome with skeletal involvement characterized by early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. tmpaxzxjjyw_mondo_relaxed.owl Miura type epiphyseal chondrodysplasia|tall stature-scoliosis-macrodactyly of the halluces syndrome|ECDM|epiphyseal chondrodysplasia, MIURA type DOID:0070316|UMLS:C4014690|OMIM:615923|Orphanet:329191 owl:Class MONDO:0017613 biolink:NamedThing intellectual disability-hypotonia-skin hyperpigmentation syndrome tmpaxzxjjyw_mondo_relaxed.owl Medrano-Roldan syndrome|Medrano Roldan syndrome Orphanet:3050|GARD:0003441 https://rarediseases.info.nih.gov/diseases/3441/medrano-roldan-syndrome owl:Class MONDO:0013542 biolink:NamedThing Moyamoya disease 5 Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene. tmpaxzxjjyw_mondo_relaxed.owl Moyamoya disease 5|ACTA2 Moyamoya disease|Moyamoya disease type 5|Moyamoya disease caused by mutation in ACTA2|MYMY5 UMLS:C3279690|OMIM:614042|Orphanet:2573 owl:Class UBERON:0001010 biolink:NamedThing diaphysis of ulna tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9305 biolink:NamedThing PPP2R2B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:9766 biolink:NamedThing RAB27A tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0003677 biolink:NamedThing Slowly progressive Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. tmpaxzxjjyw_mondo_relaxed.owl Slow disease progression|Slowly progressive disorder|Slow progression|Signs and symptoms worsen slowly with time UMLS:C1854494 HP:0003681|HP:0003675 human_phenotype owl:Class HGNC:119 biolink:NamedThing ACOX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:24595 biolink:NamedThing DYNC2LI1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001912 biolink:NamedThing lobule of mammary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002706 biolink:NamedThing cervix endometriosis Endometriosis that affects the cervix. Most patients are asymptomatic. Some patients may present with recurrent minimal uterine bleeding. tmpaxzxjjyw_mondo_relaxed.owl cervical endometriosis|uterine cervix endometriosis (disease)|endometriosis (disease) of uterine cervix|endometriosis of cervix SCTID:61640006|DOID:361|NCIT:C27623|UMLS:C0269107 owl:Class MONDO:0015651 biolink:NamedThing neurocutaneous syndrome with epilepsy tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:166466|UMLS:CN200062 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: neurocutaneous syndrome' MONDO_0042983 owl:Class NCBITaxon:7586 biolink:NamedThing Echinodermata tmpaxzxjjyw_mondo_relaxed.owl echinoderms GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010660 biolink:NamedThing intellectual disability, X-linked 9 Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked type 9|FTSJ1 non-syndromic X-linked intellectual disability|intellectual disability, X-linked 9|mental retardation, X-linked 44|intellectual disability, X-linked 44|mental retardation, X-linked 9|non-syndromic X-linked intellectual disability caused by mutation in FTSJ1|mental retardation, X-linked type 9|MRX9 UMLS:C0796215|Orphanet:777|OMIM:309549|MESH:C563137 owl:Class HGNC:13254 biolink:NamedThing FTSJ1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:122277 biolink:NamedThing Pectobacterium tmpaxzxjjyw_mondo_relaxed.owl PMID:11155980|PMID:9779605|GC_ID:11 ncbi_taxonomy owl:Class HGNC:3233 biolink:NamedThing MEGF8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011966 biolink:NamedThing periventricular heterotopia with microcephaly, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl periventricular heterotopia with microcephaly, autosomal recessive|periventricular nodular heterotopia 2|ARPHM|heterotopia, periventricular, autosomal recessive MESH:C564292|UMLS:C1842563|Orphanet:2149|Orphanet:98892|OMIM:608097 owl:Class HGNC:94 biolink:NamedThing ACAT2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001640 biolink:NamedThing celiac artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11272 biolink:NamedThing SPTA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0009032 biolink:NamedThing B cell of appendix A B cell that is located in a vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl appendix B cell|B cell of appendix vermiformis|B cell of vermiform appendix owl:Class HGNC:7414 biolink:NamedThing MT-ATP6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002551 biolink:NamedThing fibroblast of dermis tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-02-28T05:05:33Z cell owl:Class HGNC:4806 biolink:NamedThing HAL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032625 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 21 tmpaxzxjjyw_mondo_relaxed.owl MC1DN21|MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 OMIM:618242 owl:Class HGNC:20278 biolink:NamedThing NUBPL tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:17185 biolink:NamedThing ASB10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:399 biolink:NamedThing ALB tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005236 biolink:NamedThing osseus labyrinth vestibule tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007808 biolink:NamedThing ichthyosis hystrix of Curth-Macklin Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK). tmpaxzxjjyw_mondo_relaxed.owl ichthyosis HYSTRIX, Curth-Macklin type|ichthyosis hystrix, Curth-Macklin type|ichthyosis hystrix, Curth Macklin type|IHCM|Curth-Macklin type ichthyosis hystrix GARD:0002954|UMLS:C1840296|SCTID:254170001|ICD10:Q80.8|ICD9:757.39|Orphanet:79503|MESH:C536088|OMIM:146590 owl:Class HGNC:1641 biolink:NamedThing CD209 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:35519 biolink:NamedThing cholane tmpaxzxjjyw_mondo_relaxed.owl cholane owl:Class MONDO:0005366 biolink:NamedThing chronic hepatitis B virus infection Chronic form of hepatitis B infection. tmpaxzxjjyw_mondo_relaxed.owl chronic Hepatitis B|hepatitis B, chronic|hepatitis B infection, chronic EFO:0004239|MESH:D019694|UMLS:C0524909 owl:Class NCBITaxon:34621 biolink:NamedThing Dermacentor variabilis tmpaxzxjjyw_mondo_relaxed.owl American dog tick GC_ID:1 ncbi_taxonomy owl:Class N8409b29a97a04ed6b04ad788f93f6b3b biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015256 biolink:NamedThing blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl Rodini-Richieri Costa syndrome Orphanet:1258 owl:Class MONDO:0001283 biolink:NamedThing endosalpingiosis A benign pathologic process characterized by the transformation of the mesothelium into fallopian tube epithelium. It occurs in the peritoneum and may affect the serosa surface of the uterus and the adnexa. It may be asymptomatic or present as pelvic pain. tmpaxzxjjyw_mondo_relaxed.owl endosalpingiosis UMLS:C0269106|SCTID:55850004|DOID:11427|NCIT:C40121 owl:Class HGNC:14074 biolink:NamedThing FMN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008662 biolink:NamedThing autosomal dominant vitreoretinochoroidopathy Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees. tmpaxzxjjyw_mondo_relaxed.owl vitreoretinochoroidopathy, autosomal dominant|vitreoretinochoroidopathy with microcornea, glaucoma, and cataract|VRCP autosomal dominant|microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma|vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos|ADVIRC|VRCP|vitreoretinochoroidopathy|vitreoretinochoroidopathy dominant ICD10:H35.5|OMIM:193220|DOID:0111569|GARD:0005507|Orphanet:3086|SCTID:711162004|Orphanet:263347|UMLS:C3888099|MESH:C536352 owl:Class HGNC:21652 biolink:NamedThing OSTM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000070 biolink:NamedThing optic choroid fibroblast Any fibroblast that is part of a optic choroid. tmpaxzxjjyw_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=6620 TermGenie 2014-10-07T18:50:43Z cell owl:Class N5b35361bfe404c5ca40911b69909d8ba biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:7553 biolink:NamedThing MYC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002683 biolink:NamedThing adult choroid plexus neoplasm A choroid plexus neoplasm that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl adult choroid plexus tumor|neoplasm of adult choroid plexus|choroid plexus neoplasm of adults|tumor of the adult choroid plexus|choroid plexus neoplasm|neoplasm of the adult choroid plexus|adult choroid plexus neoplasm|tumor of adult choroid plexus|adult choroid plexus cancer NCIT:C8568|DOID:3542|UMLS:C0796430 owl:Class N95920d0d40bf425aac9baefc440e1664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007181 biolink:NamedThing axial osteomalacia tmpaxzxjjyw_mondo_relaxed.owl atypical osteomalacia involving the axial skeleton|axial osteomalacia GARD:0008431|UMLS:C1862372|MESH:C537791|DOID:0080039|OMIM:109130 https://rarediseases.info.nih.gov/diseases/8431/axial-osteomalacia owl:Class OBO:CHR_9606-chr8p11.2 biolink:NamedThing 8p11.2 (Human) tmpaxzxjjyw_mondo_relaxed.owl 43200000 36700000 hg38 owl:Class UBERON:0009483 biolink:NamedThing mesentery of foregut-midgut junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18483 biolink:NamedThing LIPH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014286 biolink:NamedThing neuropathy, hereditary sensory, type 1F Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene. tmpaxzxjjyw_mondo_relaxed.owl hereditary sensory neuropathy type IF|hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3|ATL3 hereditary sensory and autonomic neuropathy type 1|hereditary sensory neuropathy type 1F|neuropathy, hereditary sensory, type 1F|neuropathy, hereditary sensory, type IF|HSN 1F|HSN1F OMIM:615632|Orphanet:36386|DOID:0070154|UMLS:C3810194 owl:Class MONDO:0007944 biolink:NamedThing Treacher-Collins syndrome 1 Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene. tmpaxzxjjyw_mondo_relaxed.owl Treacher Collins syndrome type 1|Treacher-Collins syndrome 1|TCS1|TREACHER COLLINS syndrome 1|Treacher Collins syndrome|Treacher Collins-Franceschetti syndrome|TCOF1 Treacher-Collins syndrome|Treacher-Collins syndrome caused by mutation in TCOF1|mandibulofacial dysostosis OMIM:154500|UMLS:CN119605 owl:Class MONDO:0032612 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 7 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7|MC1DN7 OMIM:618229 owl:Class UBERON:0004027 biolink:NamedThing chorionic plate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014025 biolink:NamedThing lower motor neuron syndrome with late-adult onset tmpaxzxjjyw_mondo_relaxed.owl SMAJ|spinal muscular atrophy, Jokela type Orphanet:276435|ICD10:G12.1|OMIM:615048|UMLS:C3554398 owl:Class MONDO:0011258 biolink:NamedThing branchiootic syndrome 1 Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene. tmpaxzxjjyw_mondo_relaxed.owl anterior segment anomalies with or without cataract|branchiootic dysplasia|branchiootic syndrome 1|branchiootic syndrome caused by mutation in EYA1|branchiootic syndrome type 1|EYA1 branchiootic syndrome|bo syndrome 1|BOS1 UMLS:C1865143|Orphanet:52429|OMIM:602588 owl:Class HGNC:2594 biolink:NamedThing CYP19A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008535 biolink:NamedThing telangiectasia, hereditary hemorrhagic, type 1 tmpaxzxjjyw_mondo_relaxed.owl HHT1|HHT|telangiectasia, hereditary hemorrhagic, type 1|ORW disease|Osler Weber Rendu syndrome type 1|telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber|telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER|Osler-Rendu-Weber disease|ENG-related Hereditary hemorrhagic telangiectasia|hereditary hemorrhagic telangiectasia type 1 OMIM:187300|GTR:AN0097750|GTR:AN0195329|Orphanet:774|GTR:AN0097748|UMLS:C0039445|UMLS:CN034812|GTR:AN0097757 owl:Class MONDO:0012544 biolink:NamedThing brachydactyly-syndactyly syndrome Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly-syndactyly syndrome|brachydactyly-syndactyly-oligodactyly syndrome|brachydactyly-syndactyly, Zhao type|Bdsd|BDSD DOID:0050689|UMLS:C1853137|ICD10:Q73.8|OMIM:610713|MESH:C565193|Orphanet:93409 owl:Class N15791bb178974391b43461a51874a6d4 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:28403 biolink:NamedThing TRMT10A tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25355 biolink:NamedThing SLC30A10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010743 biolink:NamedThing thrombocytopenia 1 tmpaxzxjjyw_mondo_relaxed.owl XLT|THC|thrombocytopenia type 1|thrombocytopenia, X-linked, intermittent|X-linked thrombocytopenia with normal platelets|X-linked thrombocytopenia|thrombocytopenia 1|thrombocytopenia, X-linked|THC1|thrombocytopenia, X-linked, 1 ICD10:D69.4|Orphanet:268322|Orphanet:852|GARD:0005176|OMIM:313900|UMLS:C1839163 owl:Class UBERON:0005218 biolink:NamedThing diencephalon subarachnoid space tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012361 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl SLEB5|systemic lupus erythematosus, susceptibility to, 5 OMIM:609903 owl:Class N2940e47032dd4b4b8fffb97d8764d995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:11425 biolink:NamedThing STS tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:652611 biolink:NamedThing Pseudomonas aeruginosa PA14 tmpaxzxjjyw_mondo_relaxed.owl Pseudomonas aeruginosa str. PA14|Pseudomonas aeruginosa strain PA14 GC_ID:11 ncbi_taxonomy owl:Class UBERON:0017648 biolink:NamedThing ventral body wall tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013040 biolink:NamedThing atypical hemolytic-uremic syndrome with MCP/CD46 anomaly tmpaxzxjjyw_mondo_relaxed.owl aHUS with MCP/CD46 anomaly|hemolytic uremic syndrome, atypical, susceptibility to, 2|atypical HUS with MCP/CD46 anomaly|AHUS2|D-HUS with MCP/CD46 anomaly|AHUS, susceptibility to, 2|hemolytic-uremic syndrome without diarrhea with MCP/CD46 anomaly|susceptibility to atypical hemolytic uremic syndrome 2|hemolytic uremic syndrome, atypical, susceptibility to, type 2|aHUS2 OMIM:612922|ICD10:D58.8|Orphanet:2134|Orphanet:93576 owl:Class UBERON:0015165 biolink:NamedThing multi-unit eye tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014739 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 97 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 97|deafness, autosomal recessive 97|autosomal recessive nonsyndromic deafness type 97|autosomal recessive deafness 97|MET autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness caused by mutation in MET|deafness, autosomal recessive type 97|DFNB97 OMIM:616705|DOID:0110539|UMLS:C4084709|ICD10:H90.3 owl:Class GO:0015136 biolink:NamedThing sialic acid transmembrane transporter activity Enables the transfer of sialic acid from one side of a membrane to the other. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0015739 biolink:NamedThing sialic acid transport The directed movement of sialic acid into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009118 biolink:NamedThing disseminated sclerosis with narcolepsy tmpaxzxjjyw_mondo_relaxed.owl disseminated sclerosis with narcolepsy OMIM:223300|MESH:C565621|UMLS:C1857229 owl:Class UBERON:0011847 biolink:NamedThing acinus of parotid gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:10701 biolink:NamedThing SEC23A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023513 biolink:NamedThing Jeune syndrome situs inversus tmpaxzxjjyw_mondo_relaxed.owl GARD:0000303|MESH:C537572|UMLS:C2931535 Editor note: TODO https://www.ncbi.nlm.nih.gov/pubmed/2325105 https://rarediseases.info.nih.gov/diseases/303/jeune-syndrome-situs-inversus owl:Class HGNC:2928 biolink:NamedThing DMD tmpaxzxjjyw_mondo_relaxed.owl owl:Class N9d95bac2b95c470497812ea98cb11f74 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:4036 biolink:NamedThing FYB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3219 biolink:NamedThing EFEMP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000881 biolink:NamedThing perivascular macrophage A central nervous system macrophage found in small blood vessels in the brain. Markers include CD14+CD16+CD163+. tmpaxzxjjyw_mondo_relaxed.owl Markers: Human/monkey, mice: CD163. Human: CD14+CD16+CD163+. cell owl:Class HGNC:4851 biolink:NamedThing HTT tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0002656 biolink:NamedThing glandular cell of endometrium A glandular epithelial cell of the endometrium. tmpaxzxjjyw_mondo_relaxed.owl FMA:86489 tmeehan 2011-07-08T03:54:08Z cell owl:Class HGNC:2665 biolink:NamedThing CD55 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2976 biolink:NamedThing DNMT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0009636 biolink:NamedThing response to toxic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. tmpaxzxjjyw_mondo_relaxed.owl detoxification response|toxin resistance|toxin susceptibility/resistance owl:Class MONDO:0012733 biolink:NamedThing autosomal recessive bestrophinopathy Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). tmpaxzxjjyw_mondo_relaxed.owl retinopathy, Burgess-Black type|bestrophinopathy, autosomal recessive|bestrophinopathy|ARB OMIM:611809|SCTID:723828008|ICD10:H35.5|UMLS:C3888198|Orphanet:139455|UMLS:C2678493|DOID:0050662|MESH:C567518 owl:Class NCBITaxon:286 biolink:NamedThing Pseudomonas tmpaxzxjjyw_mondo_relaxed.owl RNA similarity group I|"Chlorobacterium" Guillebeau 1890, nom. rejic. Opin. 6 (not "Chlorobacterium" Lauterborn 1916)|Liquidomonas|Loefflerella PMID:7727274|PMID:10939664|PMID:15950132|PMID:23918787|PMID:18048745|PMID:10758879|GC_ID:11|PMID:9103607 NCBITaxon:212745 ncbi_taxonomy owl:Class N2e6eb4faad964213a40f166861665a08 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005894 biolink:NamedThing paracoccidioidomycosis A systemic fungal infection caused by Paracoccidioides brasiliensis that is most often seen in immunocompromised patients. It affects the mucous membranes, lymph nodes, lungs and bones. tmpaxzxjjyw_mondo_relaxed.owl Paracoccidioidal granuloma|lobo disease|PCM|paracoccidioidal mycosis|Lutz-Splendore-Almeida disease|South American blastomycosis|mucocutaneous-lymphangitic paracoccidioidomycosis UMLS:C0030409|ICD10:B41.0|GARD:0007323|NCIT:C34891|ICD10:B41.8|EFO:0007417|MESH:D010229|ICD10:B41|SCTID:36866003|Orphanet:73260|ICD10:B41.7|ICD9:116.1|MedDRA:10061906|ICD10:B41.9|DOID:12662 https://rarediseases.info.nih.gov/diseases/7323/paracoccidioidomycosis owl:Class CL:1000090 biolink:NamedThing pronephric nephron tubule epithelial cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024567 biolink:NamedThing hypotonia, infantile, with psychomotor retardation and characteristic facies 1 Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene. tmpaxzxjjyw_mondo_relaxed.owl hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN|Ihprf|IHPRF1|hypotonia, infantile, with psychomotor retardation and characteristic facies 1|NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies OMIM:615419|UMLS:C3809454|Orphanet:371364 owl:Class MONDO:0014200 biolink:NamedThing aldosterone-producing adenoma with seizures and neurological abnormalities tmpaxzxjjyw_mondo_relaxed.owl PASNA|Conn adenoma with seizures and neurological abnormalities|aldosterone-secreting adenoma|Conn adenoma|aldosteronoma|primary aldosteronism due to Conn adenoma|primary aldosteronism, seizures, and neurologic abnormalities|APA with seizures and neurological abnormalities|aldosterone-secreting adenoma with seizures and neurological abnormalities UMLS:C3809609|Orphanet:369929|ICD10:E26.0|OMIM:615474 owl:Class MONDO:0011950 biolink:NamedThing infantile-onset autosomal recessive nonprogressive cerebellar ataxia tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia, infantile nonprogressive, autosomal recessive|Norwegian infantile onset ataxia|spinocerebellar ataxia autosomal recessive 6|SCAR6|spinocerebellar ataxia, autosomal recessive 6|autosomal recessive spinocerebellar ataxia type 6|cerebellar ataxia infantile nonprogressive autosomal recessive MESH:C537312|ICD10:G11.0|UMLS:C1842676|OMIM:608029|GARD:0004954|DOID:0111617|Orphanet:284332 owl:Class MONDO:0007585 biolink:NamedThing exostoses, multiple, type 1 Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene. tmpaxzxjjyw_mondo_relaxed.owl osteochondromatosis|multiple cartilaginous exostoses|EXT|EXT1 exostoses, multiple|exostoses, multiple caused by mutation in EXT1|multiple osteochondromas|diaphyseal Aclasis|exostoses, multiple, type 1|exostoses, multiple, type I OMIM:133700|GARD:0002204|Orphanet:321 https://rarediseases.info.nih.gov/diseases/2204/exostoses-multiple-type-1 owl:Class MONDO:0100448 biolink:NamedThing RAB28-related retinopathy A retinopathy caused by biallelic variants in the RAB28 gene. tmpaxzxjjyw_mondo_relaxed.owl cone-rod dystrophy type 18|RAB28 cone-rod dystrophy|cone-rod dystrophy 18|CORD18|RAB28 retinopathy|cone-rod dystrophy caused by mutation in RAB28 owl:Class HGNC:5042 biolink:NamedThing HNRNPH2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003592 biolink:NamedThing gastric liposarcoma A malignant adipose tissue neoplasm of the stomach. tmpaxzxjjyw_mondo_relaxed.owl liposarcoma of stomach|stomach liposarcoma|gastric liposarcoma|liposarcoma of the stomach NCIT:C5488|DOID:5700|UMLS:C1333778 owl:Class HGNC:8604 biolink:NamedThing PAPSS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19706 biolink:NamedThing ADAMTSL4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:194924 biolink:NamedThing Desulfovibrionaceae tmpaxzxjjyw_mondo_relaxed.owl PMID:16403855|GC_ID:11 ncbi_taxonomy owl:Class MONDO:0013731 biolink:NamedThing MEGF10-Related Myopathy tmpaxzxjjyw_mondo_relaxed.owl early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome|myopathy, areflexia, respiratory distress, and dysphagia, early-onset|early-onset myopathy, areflexia, respiratory distress and dysphagia|MEGF10-Related Myopathy|MEGF10 Myopathy|myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant|EMARDD|A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy. ICD10:G71.2|OMIM:614399|GARD:0012199|Orphanet:98920|Orphanet:439212|DOID:0111333|UMLS:C3280679 owl:Class NCBITaxon:69773 biolink:NamedThing Penicillium glabrum tmpaxzxjjyw_mondo_relaxed.owl Citromyces glaber|Citromyces glaber Wehmer, 1911|Penicillium frequentans GC_ID:1 NCBITaxon:1195892 ncbi_taxonomy owl:Class ENVO:01001309 biolink:NamedThing liquid air-water interface layer A liquid surface layer which is in contact with air. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6027 biolink:NamedThing CXCR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0001997 biolink:NamedThing Gout Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. tmpaxzxjjyw_mondo_relaxed.owl Gouty arthritis UMLS:C0018099|SNOMEDCT_US:90560007|SNOMEDCT_US:190828008|MSH:D006073|SNOMEDCT_US:48440001|SNOMEDCT_US:170733007|UMLS:C0003868|MSH:D015210 HP:0001368 human_phenotype owl:Class MONDO:0013135 biolink:NamedThing familial hemophagocytic lymphohistiocytosis 5 Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene. tmpaxzxjjyw_mondo_relaxed.owl genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2|hemophagocytic lymphohistiocytosis, familial, 5|STXBP2 genetic hemophagocytic lymphohistiocytosis|familial hemophagocytic lymphohistiocytosis type 5|HPLH5|hemophagocytic lymphohistiocytosis, familial, type 5|FHL5|HLH5 Orphanet:540|UMLS:C2751293|OMIM:613101|DOID:0110925|MESH:C567752 owl:Class MONDO:0012831 biolink:NamedThing inflammatory bowel disease 13 Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene. tmpaxzxjjyw_mondo_relaxed.owl inflammatory bowel disease type 13|IBD13|inflammatory bowel disease 13|inflammatory bowel disease caused by mutation in ABCB1|ABCB1 inflammatory bowel disease UMLS:C2677101|OMIM:612244|DOID:0110893|MESH:C567384 owl:Class HGNC:3681 biolink:NamedThing FGF3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021957 biolink:NamedThing autosomal recessive nonsyndromic congenital nuclear cataract tmpaxzxjjyw_mondo_relaxed.owl congenital nuclear cataract, autosomal recessive GARD:0009492|OMIM:609376|MESH:C537298|UMLS:C2931470 https://rarediseases.info.nih.gov/diseases/9492/autosomal-recessive-nonsyndromic-congenital-nuclear-cataract owl:Class HGNC:11065 biolink:NamedThing SLC7A7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014175 biolink:NamedThing mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy. tmpaxzxjjyw_mondo_relaxed.owl mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)|mitochondrial DNA depletion syndrome type 12|MTDPS12|mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive|mitochondrial DNA depletion syndrome 12|mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR|MTDPS12B Orphanet:1369|NCIT:C129977|DOID:0080335|DOID:0080130|OMIM:615418|UMLS:C4321247 owl:Class MONDO:0100433 biolink:NamedThing ACTB-associated syndromic thrombocytopenia A syndrome associated with developmental delay, mild intellectual disability, microcephaly, and thrombocytopenia with platelet anisotropy and enlarged platelets. tmpaxzxjjyw_mondo_relaxed.owl ACTB-AST owl:Class HGNC:28844 biolink:NamedThing FBXO38 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C25193 biolink:NamedThing Occupation The principal activity that a person does to earn money. tmpaxzxjjyw_mondo_relaxed.owl OCCUPATION|Employee Job|Job|EMPJOB|Occupation owl:Class NCBITaxon:35793 biolink:NamedThing Rickettsia sibirica tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:17114787 ncbi_taxonomy owl:Class HGNC:2528 biolink:NamedThing CTSC tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:3000001 biolink:NamedThing exposure to virus A history of exposure to Viruses. tmpaxzxjjyw_mondo_relaxed.owl Viruses exposure owl:Class MONDO:0010407 biolink:NamedThing intellectual disability, X-linked syndromic, Turner type An X-linked syndromic intellectual disability characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant. tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type|mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type|X-linked mental retardation Brooks type|MRXST|mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism|Brooks-Wisniewski-Brown Syndrome|intellectual disability, X-linked syndromic, Turner type|X-linked intellectual disability, Brooks type|Brooks Wisniewski Brown syndrome|Brooks-Wisniewski-Brown syndrome|Juberg-Marsidi Syndrome|syndromic X-linked intellectual disability Turner type|mental retardation, X-linked, syndromic, Turner type|X-linked intellectual disability, Turner type|mental retardation and macrocephaly syndrome OMIM:300706|ICD10:Q87.8|UMLS:C0796272|OMIM:300612|MESH:C567476|GARD:0005610|UMLS:C2678046|DOID:0060829|Orphanet:3056|MESH:C563154|Orphanet:85328|DOID:0060811|SCTID:725912001|GARD:0005604 owl:Class HGNC:30892 biolink:NamedThing HUWE1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008726 biolink:NamedThing Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis tmpaxzxjjyw_mondo_relaxed.owl Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis|Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis|ABS1 UMLS:C3150099|OMIM:201750|Orphanet:63269 owl:Class MONDO:0013892 biolink:NamedThing C3 glomerulonephritis Glomerulonephritis characterized by C3 accumulation with little or absent deposition of immunoglobulin, in the absence of ultrastructural electron-dense transformation seen in dense deposit disease. tmpaxzxjjyw_mondo_relaxed.owl complement-mediated membranoproliferative glomerulonephritis|CFHR5 deficiency UMLS:C3553720|ICD10:N00.5|OMIM:614809|UMLS:C4055342|UMLS:CN187045|Orphanet:329931|Orphanet:54370|Orphanet:329918|NCIT:C123043 owl:Class MONDO:0018989 biolink:NamedThing recurrent acute pancreatitis Recurrent acute pancreatitis (RAP) is characterized by repeated attacks of acute pancreatitis (AP), which is defined as an acute inflammatory process of the pancreas with variable involvement of other regional tissues or remote organ systems. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267937|MedDRA:10033657|ICD10:K85.2|Orphanet:64740|ICD10:K85.9|ICD10:K85.0|SCTID:197458008|ICD10:K85.3|ICD10:K85.8|ICD10:K85.1 owl:Class MONDO:0012640 biolink:NamedThing Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive Charcot-Marie-Tooth disease type 4J|Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4|Charcot-Marie-Tooth disease, autosomal recessive, type 4J|FIG4 Charcot-Marie-Tooth disease type 4|Charcot-Marie-Tooth disease, type 4J|CMT4J UMLS:C1970011|DOID:0110184|NCIT:C134954|MESH:C566984|SCTID:720638000|Orphanet:139515|OMIM:611228|GARD:0012443|ICD10:G60.0 https://rarediseases.info.nih.gov/diseases/12443/charcot-marie-tooth-disease-type-4j owl:Class MONDO:0010952 biolink:NamedThing hereditary hyperferritinemia with congenital cataracts Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload. tmpaxzxjjyw_mondo_relaxed.owl hyperferritinemia cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hyperferritinemia-cataract syndrome|HHCS|Bonneau-Beaumont syndrome|cataract-hyperferritinemia syndrome|hereditary hyperferritinemia cataract syndrome|hereditary hyperferritinemia-cataract syndrome|HRFTC|hyperferritinemia with or without cataract DOID:0111256|GARD:0002806|ICD9:289.89|OMIM:600886|Orphanet:163|UMLS:C1833213|ICD9:366.44|ICD10:H26.0|MESH:C538137|SCTID:702398007 owl:Class UBERON:0009504 biolink:NamedThing mesenchyme of main bronchus tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:565995 biolink:NamedThing Bundibugyo ebolavirus tmpaxzxjjyw_mondo_relaxed.owl BDBV|Bundibugyo virus|Ebolavirus bundibugyo GC_ID:1 ncbi_taxonomy owl:Class HGNC:19440 biolink:NamedThing SBDS tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11448 biolink:NamedThing SUCLA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:01001865 biolink:NamedThing concentration of carbon dioxide in an atmosphere The concentration of carbon dioxide when measured in air that is part of an atmosphere. tmpaxzxjjyw_mondo_relaxed.owl owl:Class N5d03084e7aee4cb69c7a249c85cf7e75 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:9689 biolink:NamedThing PTS tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0001536 biolink:NamedThing left common carotid artery plus branches tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1041 biolink:NamedThing BFSP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013234 biolink:NamedThing hypokalemic periodic paralysis, type 2 tmpaxzxjjyw_mondo_relaxed.owl hypokalemic periodic paralysis, type 2|HOKPP2 UMLS:C2750061|Orphanet:681|MESH:C567635|OMIM:613345 owl:Class MONDO:0004295 biolink:NamedThing asbestos-related lung carcinoma A carcinoma arising in the lung due to exposure to asbestos. tmpaxzxjjyw_mondo_relaxed.owl asbestos-related lung carcinoma|asbestos-related lung cancer DOID:7596|UMLS:C1332337|NCIT:C27925 owl:Class NCBITaxon:121752 biolink:NamedThing Lacazia loboi tmpaxzxjjyw_mondo_relaxed.owl Paracoccidioides loboi|Paracoccidioides loboi (nom. inval.) GC_ID:1 NCBITaxon:38947 ncbi_taxonomy owl:Class UBERON:0003937 biolink:NamedThing reproductive gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019570 biolink:NamedThing Cockayne syndrome type 2 Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. tmpaxzxjjyw_mondo_relaxed.owl Cockayne syndrome B|Cockayne syndrome type II|CSB|Cockayne syndrome type B|Cockayne syndrome type 2 ICD10:Q87.8|UMLS:C0751038|Orphanet:191|Orphanet:90324|OMIM:133540|Orphanet:90322|OMIM:216400|GARD:0001420|Orphanet:90321|NCIT:C135726 owl:Class HP:0001962 biolink:NamedThing Palpitations A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. tmpaxzxjjyw_mondo_relaxed.owl Skipped heart beat|Heart palpitations|Palpitations|Missed heart beat SNOMEDCT_US:80313002|UMLS:C0030252 HP:0001676 human_phenotype owl:Class UBERON:0004944 biolink:NamedThing submucosa of trigone of urinary bladder tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:25712 biolink:NamedThing PGAP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014374 biolink:NamedThing nephronophthisis 18 Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene. tmpaxzxjjyw_mondo_relaxed.owl nephronophthisis type 18|NPHP18|nephronophthisis (disease) caused by mutation in CEP83|CEP83 nephronophthisis (disease)|nephronophthisis 18 DOID:0111125|Orphanet:655|OMIM:615862|UMLS:C3890591 owl:Class GO:0004557 biolink:NamedThing alpha-galactosidase activity Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase. tmpaxzxjjyw_mondo_relaxed.owl alpha-galactoside galactohydrolase activity|alpha-galactosidase A|alpha-D-galactoside galactohydrolase activity|alpha-D-galactosidase activity|melibiase activity owl:Class MONDO:0016114 biolink:NamedThing bulbospinal muscular atrophy of childhood A bulbospinal muscular atrophy that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl bulbospinal muscular atrophy of childhood|pediatric bulbospinal muscular atrophy|childhood bulbospinal muscular atrophy ICD10:G12.2|Orphanet:206704 owl:Class MONDO:0056814 biolink:NamedThing hormone-resistant prostate carcinoma Prostate carcinoma that does not respond to hormone therapy. tmpaxzxjjyw_mondo_relaxed.owl hormone-resistant prostate carcinoma|hormone-resistant prostate cancer NCIT:C114933 owl:Class HGNC:6530 biolink:NamedThing LCT tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5973 biolink:NamedThing IL13 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011223 biolink:NamedThing amyotrophic lateral sclerosis type 4 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the SETX gene. tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis caused by mutation in SETX|neuronopathy, distal hereditary motor, with pyramidal features|ALS4|distal hereditary motor neuropathy with upper motor neuron signs|amyotrophic lateral sclerosis 4, juvenile|dHMN with upper motor neuron signs|ALS 4|amyotrophic lateral sclerosis 4|distal hereditary motor neuropathy with pyramidal features|SETX amyotrophic lateral sclerosis UMLS:C1865409|OMIM:602433|DOID:0060196|Orphanet:357043|MESH:C566550|ICD10:G12.2|GARD:0010502 https://rarediseases.info.nih.gov/diseases/10502/amyotrophic-lateral-sclerosis-type-4 owl:Class MONDO:0010427 biolink:NamedThing syndromic X-linked intellectual disability Raymond type A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1. tmpaxzxjjyw_mondo_relaxed.owl MRXSR|mental retardation, X-linked syndromic, Raymond type|syndromic X-linked intellectual disability Raymond type|intellectual disability, X-linked syndromic, Raymond type|mental retardation, X-linked, syndromic, Raymond type|intellectual disability, X-linked, syndromic, Raymond type OMIM:300799|UMLS:C3275406|DOID:0060824|ICD10:Q87.8 owl:Class MONDO:0020483 biolink:NamedThing acetazolamide-responsive myotonia Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ). tmpaxzxjjyw_mondo_relaxed.owl painful myotonia|painful congenital myotonia|ACZ-responsive myotonia|ACZ-responsive congenital myotonia|myotonia-painful contractions syndrome|Acetazolamide-responsive congenital myotonia SCTID:715793003|ICD10:G71.1|OMIM:608390|Orphanet:99736 owl:Class MONDO:0014485 biolink:NamedThing pontocerebellar hypoplasia, type 1C Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene. tmpaxzxjjyw_mondo_relaxed.owl pontocerebellar hypoplasia, type 1C|pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8|PCH1C|hypomyelination with spinal muscular atrophy and cerebellar hypoplasia|EXOSC8 pontocerebellar hypoplasia type 1 OMIM:616081|Orphanet:2254|UMLS:C4015160 owl:Class MONDO:0013119 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 77 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 77|autosomal recessive deafness 77|LOXHD1 autosomal recessive nonsyndromic deafness|autosomal recessive nonsyndromic deafness 77|autosomal recessive nonsyndromic deafness type 77|deafness, autosomal recessive type 77|autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1|DFNB77 ICD10:H90.3|UMLS:C2746083|OMIM:613079|DOID:0110525|MESH:C567543 owl:Class MONDO:0017940 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms. tmpaxzxjjyw_mondo_relaxed.owl CMT2 due to KIF5A mutation SCTID:764730007|ICD10:G60.0|Orphanet:324611|UMLS:CN204086 owl:Class HGNC:4206 biolink:NamedThing OPN1MW tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018527 biolink:NamedThing osteoclastic giant cell tumor of pancreas tmpaxzxjjyw_mondo_relaxed.owl pancreatic osteoclastic giant cell tumor|OGCT of pancreas|pancreatic undifferentiated carcinoma with osteoclast-like giant cells|undifferentiated carcinoma of pancreas with osteoclast-like giant cells UMLS:CN237530|ICD10:C25.8|ICD10:C25.2|ICD10:C25.1|ICD10:C25.7|ICD10:C25.0|Orphanet:424080 Editor note: consider merging with MONDO:0006479 owl:Class UBERON:0015215 biolink:NamedThing median arcuate ligament tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012527 biolink:NamedThing cataract 11 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 gene. tmpaxzxjjyw_mondo_relaxed.owl cataract 11, multiple types|posterior polar cataract 4|Posterior polar cataract, 4|cataract 11 with microphthalmia and neurodevelopmental abnormalities|CPP4|cataract, posterior polar, 4|PITX3 early-onset non-syndromic cataract|early-onset non-syndromic cataract caused by mutation in PITX3|CTRCT11|Cpp4|CTPP4 GARD:0010228|Orphanet:91492|ICD10:Q12.0|Orphanet:98993|MESH:C535344|DOID:0110249|OMIM:610623 owl:Class MONDO:0010541 biolink:NamedThing X-linked calvarial hyperostosis tmpaxzxjjyw_mondo_relaxed.owl calvarial hyperostosis|isolated hyperostosis of the calvarium GARD:0001058|OMIM:302030|Orphanet:391327|MESH:C537963|ICD10:M85.2 owl:Class MONDO:0013787 biolink:NamedThing psychomotor retardation, epilepsy, and craniofacial dysmorphism tmpaxzxjjyw_mondo_relaxed.owl psychomotor retardation, epilepsy, and craniofacial dysmorphism|PMRED UMLS:C3281055|OMIM:614501 owl:Class UBERON:0012488 biolink:NamedThing muscle layer of duodenum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012650 biolink:NamedThing Cernunnos-XLF deficiency Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia. tmpaxzxjjyw_mondo_relaxed.owl Nhej1 syndrome|severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation|Cernunnos XLFD|severe combined immunodeficiency with sensitivity to ionizing radiation due to Nhej1 deficiency|Cernunnos-XLF deficiency|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to Nhej1 deficiency|Cernunnos deficiency|NHEJ1 deficiency|combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with microcephaly, Growth retardation, and sensitivity to ionizing radiation ICD10:D81.1|SCTID:720853005|UMLS:C1969799|Orphanet:169079|MESH:C566970|OMIM:611291 owl:Class HGNC:25737 biolink:NamedThing NHEJ1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class Nf79600cf2da5458b9b41ce3cd5f11ef2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0001418 biolink:NamedThing skin of thorax tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:8000006 biolink:NamedThing WHIM syndrome 1 A congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma). tmpaxzxjjyw_mondo_relaxed.owl Warts, hypogammaglobulinemia, infections, and myelokathexis|Warts-infections-leukopenia-myelokatexis syndrome|Warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|WILM|Warts-hypogammaglobulinemia-infections-myelokathexis syndrome|WHIM syndrome|WHIMS Orphanet:51636|OMIM:193670|GARD:0009297|ICD10:D81.8|UMLS:C0472817|DOID:0060591|MESH:C536697|SCTID:234571003 http://orcid.org/0000-0001-5208-3432 https://rarediseases.info.nih.gov/diseases/9297/whim-syndrome owl:Class HGNC:2561 biolink:NamedThing CXCR4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000377 biolink:NamedThing tracheoblast tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class PATO:0000647 biolink:NamedThing necrotic A structural quality inhering in a bearer by virtue of the bearer's undergoing unprogrammed cell death. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11356 biolink:NamedThing STAG3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004163 biolink:NamedThing bladder urachal urothelial carcinoma A transitional cell carcinoma of the urinary bladder that arises from the urachal epithelium. tmpaxzxjjyw_mondo_relaxed.owl bladder urachal urothelial carcinoma NCIT:C39844|DOID:7244|UMLS:C1511207 owl:Class HGNC:26193 biolink:NamedThing CSPP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:24338 biolink:NamedThing C1GALT1C1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0011387 biolink:NamedThing Enlarged vestibular aqueduct Increased size of the vestibular aqueduct. tmpaxzxjjyw_mondo_relaxed.owl Dilated vestibular aqueduct|Widened vestibular aqueduct UMLS:C1863752|MSH:C566366 Enlarged vestibular aqueduct is commonly seen in Pendred syndrome. peter 2012-03-09T07:38:34Z human_phenotype owl:Class HGNC:11909 biolink:NamedThing TNFRSF11B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0025132 biolink:NamedThing Abnormal circulating estrogen level A deviation from normal concentration of the hormone estrogen in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl Abnormal estrogen level|Abnormal oestrogen level|Abnormal circulating oestrogen level 2016-11-27 13:46:29+00:00 Clinical estrogen tests measure one of three components: estrone (E1), estradiol (E2), or estriol (E3). HPO:probinson human_phenotype owl:Class MONDO:0008792 biolink:NamedThing familial angiolipomatosis Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously. tmpaxzxjjyw_mondo_relaxed.owl angiolipoma Microthromboticum|angiolipomatosis, familial MESH:C565951|Orphanet:199279|ICD10:D17.9|UMLS:C1859784|OMIM:206550 owl:Class MONDO:0012460 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 67 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 67|autosomal recessive nonsyndromic deafness 67|deafness, autosomal recessive type 67|autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5|deafness, autosomal recessive 67|DFNB67|LHFPL5 autosomal recessive nonsyndromic deafness|autosomal recessive deafness 67 ICD10:H90.3|OMIM:610265|UMLS:C1853223|DOID:0110518|MESH:C565207 owl:Class CHEBI:50406 biolink:NamedThing probe A role played by a molecular entity used to study the microscopic environment. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:186540 biolink:NamedThing Sudan ebolavirus tmpaxzxjjyw_mondo_relaxed.owl SEBOV|SUDV|Sudan Ebola virus|Ebolavirus Sudan GC_ID:1 ncbi_taxonomy owl:Class MONDO:0044709 biolink:NamedThing cochleovestibular dysplasia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:502305 owl:Class MONDO:0000014 biolink:NamedThing colorblindness, partial tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009100 biolink:NamedThing IDDM 1 tmpaxzxjjyw_mondo_relaxed.owl IDDM|IDDM1|diabetes mellitus, type 1|diabetes mellitus, insulin-dependent|insulin-dependent diabetes mellitus 1|diabetes mellitus, insulin-dependent, 1|juvenile-onset diabetes OMIM:222100 owl:Class MONDO:0023035 biolink:NamedThing Eagle syndrome Eagle syndrome is characterized by recurrent pain in the middle part of the throat (oropharynx) and face. 'Classic Eagle syndrome' is typically seen in patients after throat trauma or tonsillectomy. Symptoms include dull and persistent throat pain that may radiate to the ear and worsen with rotation of the head. Other symptoms may include difficulty swallowing, feeling that there is something stuck in the throat, tinnitus, and neck or facial pain. A second form of Eagle syndrome unrelated to tonsillectomy causes compression of the vessel that carries blood to the brain, neck, and face (carotid artery). This form can cause headache. Eagle syndrome is due to a calcified stylohyoid ligament or an elongated styloid process. The styloid process is a pointed part of the temporal bone that serves as an anchor point for several muscles associated with the tongue and larynx. The mainstay treatment for Eagle syndrome is surgery to shorten the styloid process (styloidectomy). Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or steroids. The overall success rate for treatment (medical or surgical) is about 80%. tmpaxzxjjyw_mondo_relaxed.owl Eagle's syndrome|elongated styloid process which causes cervico facial pain tinnitus and otalgia|styloid-stylohoid syndrome|elongated styloid process syndrome MESH:C538010|ICD9:733.99|SCTID:609143007|GARD:0009401 https://rarediseases.info.nih.gov/diseases/9401/eagle-syndrome owl:Class SO:0005855 biolink:NamedThing gene_group A collection of related genes. tmpaxzxjjyw_mondo_relaxed.owl gene group owl:Class MONDO:0007178 biolink:NamedThing aurocephalosyndactyly tmpaxzxjjyw_mondo_relaxed.owl aurocephalosyndactyly|Auralcephalosyndactyly|Kurczynski-Casperson syndrome|aural cephalosyndactyly Orphanet:1219|UMLS:C1862380|GARD:0009218|OMIM:109050|MESH:C566235 owl:Class MONDO:0012706 biolink:NamedThing familial temporal lobe epilepsy 4 A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22. tmpaxzxjjyw_mondo_relaxed.owl epilepsy, familial temporal lobe, 4|occipitotemporal lobe epilepsy and migraine with aura|EPOLM|familial temporal lobe epilepsy type 4|ETL4|epilepsy, occipitotemporal lobe, and migraine with aura UMLS:C1968847|OMIM:611631|Orphanet:98819|MESH:C566902|DOID:0060753 owl:Class UBERON:0003230 biolink:NamedThing epithelium of carpal region tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:451507 biolink:NamedThing Mucoromycotina tmpaxzxjjyw_mondo_relaxed.owl Zygomycota PMID:27738200|GC_ID:1|PMID:17010206|PMID:17572334|PMID:17051209|PMID:14715234 ncbi_taxonomy owl:Class MONDO:0006479 biolink:NamedThing undifferentiated pancreatic carcinoma with osteoclast-like giant cells A rare variant of undifferentiated pancreatic carcinoma characterized by the presence of non-neoplastic osteoclast-like giant cells. tmpaxzxjjyw_mondo_relaxed.owl osteoclast-like giant cell neoplasm of pancreas|osteoclast-like giant cell neoplasm of the pancreas|pancreatic osteoclast-like giant cell carcinoma|undifferentiated pancreatic carcinoma with osteoclast-like giant cells UMLS:C2007059|NCIT:C5723|EFO:1000607|DOID:7718 owl:Class MONDO:0012676 biolink:NamedThing autosomal recessive osteopetrosis 4 Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the CLCN7 gene. tmpaxzxjjyw_mondo_relaxed.owl osteopetrosis, autosomal recessive type 4|osteopetrosis, infantile malignant 2|infantile malignant osteopetrosis 2|autosomal recessive osteopetrosis caused by mutation in CLCN7|autosomal recessive osteopetrosis type 4|osteopetrosis infantile malignant 2|osteopetrosis autosomal recessive 4|osteopetrosis, autosomal recessive 4|OPTB4|autosomal recessive malignant osteopetrosis caused by mutation in CLCN7|CLCN7 autosomal recessive malignant osteopetrosis|CLCN7 autosomal recessive osteopetrosis MESH:C566933|OMIM:611490|Orphanet:667|DOID:0110944|GARD:0005993 https://rarediseases.info.nih.gov/diseases/5993/osteopetrosis-autosomal-recessive-4 owl:Class MONDO:0015572 biolink:NamedThing cerebral malformation due to abnormal neuronal migration tmpaxzxjjyw_mondo_relaxed.owl brain malformation due to abnormal neuronal migration|non-syndromic cerebral malformation due to abnormal neuronal migration 2022-03-01 Orphanet:163209|ICD10:Q04.8 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo. Editor note: named as non-syndromic in ORDO, but we rename for consistency, see https://github.com/monarch-initiative/mondo-build/issues/58. MONDO_0016054 owl:Class MONDO:0009808 biolink:NamedThing osteoid osteoma A small, benign, bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts which produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare. tmpaxzxjjyw_mondo_relaxed.owl osteoid osteoma|osteoid osteoma (disease) osteoid osteoma (disease) ICDO:9191/0|HP:0030433|SCTID:302859004|MESH:D010017|OMIM:259550|UMLS:C0029441|NCIT:C3297 owl:Class MONDO:0018416 biolink:NamedThing autosomal recessive spastic paraplegia type 59 tmpaxzxjjyw_mondo_relaxed.owl SPG59 UMLS:CN226121|ICD10:G11.4|Orphanet:401795 owl:Class MONDO:0007914 biolink:NamedThing lumbar stenosis, familial tmpaxzxjjyw_mondo_relaxed.owl lumbar stenosis, familial UMLS:C1835320|MESH:C563613|OMIM:152550 owl:Class MONDO:0017096 biolink:NamedThing isolated focal cortical dysplasia type Ia tmpaxzxjjyw_mondo_relaxed.owl FCD type Ia ICD10:Q04.8|UMLS:CN202453|Orphanet:268973 owl:Class MONDO:0009221 biolink:NamedThing femur-fibula-ulna complex Femur-fibula-ulna (FFU) complex is a non-lethal congenital anomaly of unknown etiology, more frequently reported in males than females, characterized by a highly variable combination of defects of the femur, fibula, and/or ulna, with striking asymmetry, including absence of the proximal part of the femur, absence of the fibula and malformation of the ulnar side of the upper limb. Axial skeleton, internal organs and intellectual function are usually normal. tmpaxzxjjyw_mondo_relaxed.owl femur-fibula-ulna syndrome|Ffu syndrome|femur fibula ulna syndrome|PFFD|femur-fibula-ulna dysostosis|FFU complex UMLS:C1856790|OMIM:228200|MESH:C537918|GARD:0002286|Orphanet:2019|ICD10:Q74.8|MedDRA:10068448 owl:Class MONDO:0019645 biolink:NamedThing renal dysplasia, bilateral Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. tmpaxzxjjyw_mondo_relaxed.owl bilateral renal dysplasia Orphanet:93173|SCTID:204950001|HP:0012582|ICD10:Q61.4 owl:Class HP:0000711 biolink:NamedThing Restlessness A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress. tmpaxzxjjyw_mondo_relaxed.owl Restlessness SNOMEDCT_US:162221009|UMLS:C3887611 human_phenotype owl:Class MONDO:0011356 biolink:NamedThing exostosis, Dupuytren subungual tmpaxzxjjyw_mondo_relaxed.owl Dupuytren subungual exostosis|subungual exostoses|exostosis, Dupuytren subungual OMIM:603656|MESH:C535723|GARD:0008280|UMLS:C1863622 https://rarediseases.info.nih.gov/diseases/8280/dupuytren-subungual-exostosis owl:Class MONDO:0023250 biolink:NamedThing global disaccharide intolerance tmpaxzxjjyw_mondo_relaxed.owl GARD:0008386 https://rarediseases.info.nih.gov/diseases/8386/global-disaccharide-intolerance owl:Class MONDO:0007504 biolink:NamedThing thickened earlobes-conductive deafness syndrome Thickened earlobes-conductive deafness syndrome is characterized by microtia with thickened ear lobes, micrognathia and conductive hearing loss due to congenital ossicular anomalies. It has been described in two families. The mode of inheritance is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl Escher Hirt syndrome|earlobes, thickened, with conductive deafness from incudostapedial abnormalities|Escher-Hirt syndrome OMIM:128980|GARD:0002195|ICD10:H90.0|Orphanet:2405|SCTID:722476007 owl:Class MONDO:0012223 biolink:NamedThing hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate tmpaxzxjjyw_mondo_relaxed.owl Marie Unna-like scalp hypotrichosis|hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate UMLS:C1836521|OMIM:609250|MESH:C563765 owl:Class MONDO:0012254 biolink:NamedThing multiple epiphyseal dysplasia, with miniepiphyses Multiple epiphyseal dysplasia, with miniepiphyses is a rare primary bone dysplasia disorder characterized by strikingly small secondary ossification centers (mini-epiphyses) in all or only some joints, resulting in severe bone dysplasia of the proximal femoral heads. Short stature, increased lumbar lordosis, genua vara and generalized joint laxity have also been reported. tmpaxzxjjyw_mondo_relaxed.owl epiphyseal dysplasia, multiple, with miniepiphyses OMIM:609325|Orphanet:166032|ICD10:Q77.3|UMLS:C1836307|MESH:C563735 owl:Class MONDO:0019836 biolink:NamedThing congenital anomaly of hepatic vein tmpaxzxjjyw_mondo_relaxed.owl Orphanet:95507|ICD10:Q26.8 owl:Class MONDO:0005891 biolink:NamedThing ostertagiasis A disease of herbivorous mammals, particularly cattle and sheep, caused by stomach worms of the genus ostertagia. tmpaxzxjjyw_mondo_relaxed.owl DOID:3985|UMLS:C0029471|MESH:D010029|EFO:0007414 owl:Class MONDO:0007752 biolink:NamedThing hyperheparinemia tmpaxzxjjyw_mondo_relaxed.owl hyperheparinemia UMLS:C3203346|ICD9:286.5|OMIM:144050|MESH:C562723|SCTID:79674009 owl:Class MONDO:0003851 biolink:NamedThing ovarian fetiform teratoma A rare type of teratoma that arises from the ovary and resembles a malformed fetus. tmpaxzxjjyw_mondo_relaxed.owl ovarian fetiform teratoma|homunculus UMLS:C1518715|NCIT:C39996|DOID:6314 owl:Class MONDO:0001401 biolink:NamedThing female breast nipple and areola cancer tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of nipple or areola of female breast|malignant neoplasm of nipple and areola of female breast SCTID:188147009|UMLS:C0024621|DOID:11889|ICD9:174.0 owl:Class MONDO:0003848 biolink:NamedThing ectopic thymus A condition in which the thymus gland is abnomally located; this can be secondary to failure of descent during fetal development, or failure of involution. tmpaxzxjjyw_mondo_relaxed.owl ectopic thymus UMLS:C1333375|DOID:6307|NCIT:C27804 owl:Class MONDO:0007353 biolink:NamedThing coloboma of macula-brachydactyly type B syndrome Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner. tmpaxzxjjyw_mondo_relaxed.owl apical dystrophy|Sorsby syndrome|coloboma of macula with type B brachydactyly OMIM:120400|UMLS:C1852752|SCTID:717785002|MESH:C535969|ICD10:Q87.1|GARD:0001437|Orphanet:1471 owl:Class GO:0045646 biolink:NamedThing regulation of erythrocyte differentiation Any process that modulates the frequency, rate or extent of erythrocyte differentiation. tmpaxzxjjyw_mondo_relaxed.owl regulation of RBC differentiation|regulation of red blood cell differentiation owl:Class MONDO:0022089 biolink:NamedThing Carnevale hernandez castillo syndrome tmpaxzxjjyw_mondo_relaxed.owl Triphalyngeal thumbs and brachyectrodactyly GARD:0001117|MESH:C535585|UMLS:C2930940 https://rarediseases.info.nih.gov/diseases/1117/carnevale-hernandez-castillo-syndrome owl:Class MONDO:0006385 biolink:NamedThing primary intraosseous squamous cell carcinoma A squamous cell carcinoma that arises centrally from the jaw. It derives from odontogenic epithelial remnants. It includes solid type squamous cell carcinoma, squamous cell carcinoma that arises from an odontogenic cyst, and squamous cell carcinoma that derives from a keratocystic odontogenic tumor. tmpaxzxjjyw_mondo_relaxed.owl PIOSCC UMLS:C1709663|NCIT:C54295|EFO:1000492 owl:Class UBERON:0004246 biolink:NamedThing outflow tract smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:287 biolink:NamedThing Pseudomonas aeruginosa tmpaxzxjjyw_mondo_relaxed.owl Bacillus aeruginosus|Pseudomonas pyocyanea|Bacillus pyocyaneus|Bacterium aeruginosum|Pseudomonas polycolor|probable synonym or variety: "Pseudomonas polycolor" Clara 1930|Bacterium pyocyaneum|Micrococcus pyocyaneus GC_ID:11 NCBITaxon:1860124|NCBITaxon:932477|NCBITaxon:931957|NCBITaxon:1607811|NCBITaxon:1437769|NCBITaxon:1683561|NCBITaxon:1607813|NCBITaxon:665948|NCBITaxon:1683559|NCBITaxon:912077|NCBITaxon:1851865|NCBITaxon:1851858|NCBITaxon:931956|NCBITaxon:1437768|NCBITaxon:1508364|NCBITaxon:931955|NCBITaxon:1437770|NCBITaxon:1224290|NCBITaxon:931958 ncbi_taxonomy owl:Class NCBITaxon:136841 biolink:NamedThing Pseudomonas aeruginosa group tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0001294 biolink:NamedThing Horner syndrome Horner's syndrome is a rare condition characterized by miosis (constriction of thepupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It iscaused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, or other damage to a part of the brain called the brain stem ; injury to the carotid artery ;and trauma to the brachial plexus. In rare cases, Horner's syndrome is congenital (present from birth) and associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause. tmpaxzxjjyw_mondo_relaxed.owl oculosympathetic palsy|Bernard Horner syndrome|Bernard-Horner syndrome|Horner's syndrome|Horner syndrome|cervical sympathetic paralysis ICD9:337.09|DOID:11486|SCTID:192915005|ICD10:G90.2|GARD:0006670|NCIT:C28155|MESH:D006732 https://rarediseases.info.nih.gov/diseases/6670/horners-syndrome owl:Class IAO:8000004 biolink:NamedThing bridge ontology module An ontology module that consists entirely of axioms that connect or bridge two distinct ontology modules. For example, the Uberon-to-ZFA bridge module. tmpaxzxjjyw_mondo_relaxed.owl bridge ontology module owl:Class MONDO:0006392 biolink:NamedThing rectal hyperplastic polyp A serrated polypoid lesion that arises in the rectum. It rarely produces symptoms. This group includes goblet cell rich, mucin poor, and microvesicular hyperplastic polyps. tmpaxzxjjyw_mondo_relaxed.owl hyperplastic polyp of rectum|hyperplastic polyp of the rectum|rectal Hp|rectal metaplastic polyp|rectal MP EFO:1000502|NCIT:C5619|UMLS:C1335679 owl:Class HGNC:10802 biolink:NamedThing SFTPC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010700 biolink:NamedThing optic atrophy--spastic paraplegia syndrome tmpaxzxjjyw_mondo_relaxed.owl optic atrophy--spastic paraplegia syndrome MESH:C564084|OMIM:311100|UMLS:C1839565 owl:Class MONDO:0004503 biolink:NamedThing upper clivus meningioma A meningioma that affects the upper clivus. tmpaxzxjjyw_mondo_relaxed.owl meningioma of the upper clivus|meningioma of upper clivus UMLS:C1336871|DOID:8221|NCIT:C5290 owl:Class FOODON:00001141 biolink:NamedThing wheat food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043087 biolink:NamedThing thickened earlobes with conductive deafness from incus-stapes abnormalities tmpaxzxjjyw_mondo_relaxed.owl Schweitzer Kemink Graham syndrome|thickened earlobes with conductive deafness from incus-stapes abnormalities|conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia MESH:C536511|UMLS:C2931222|GARD:0002034 owl:Class MONDO:0012082 biolink:NamedThing asperger syndrome, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl ASPG1|ASPERGER syndrome, susceptibility to, 1 OMIM:608638|UMLS:C1837646 owl:Class MONDO:0006595 biolink:NamedThing perinatal jaundice due to hepatocellular damage Jaundice in perinates due to cellular damange of liver. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158976|SCTID:10877007|ICD9:774.4|EFO:1000750|DOID:11452 owl:Class MONDO:0006657 biolink:NamedThing apparent mineralocorticoid excess syndrome An autosomal recessive disorder caused by a deficiency of 11-beta-hydroxysteroid dehydrogenase, which is characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism. tmpaxzxjjyw_mondo_relaxed.owl syndrome of apparent mineralocorticoid Excess ICD9:255.3|UMLS:C0342488|NCIT:C123231|DOID:4367|MESH:D043204|EFO:1000817|SCTID:237770005 owl:Class MONDO:0008089 biolink:NamedThing neutropenia, chronic familial tmpaxzxjjyw_mondo_relaxed.owl leukopenia, benign familial|chronic familial neutropenia|leukopenia benign familial|neutropenia, chronic familial|neutropenia chronic familial ICD9:288.09|UMLS:C3665676|SCTID:234576008|GARD:0003983|OMIM:162700|MESH:C535815 https://rarediseases.info.nih.gov/diseases/3983/neutropenia-chronic-familial owl:Class MONDO:0007940 biolink:NamedThing malignant hyperthermia, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl malignant hyperthermia, susceptibility to, 3|malignant hyperpyrexia susceptibility type 3|MHS3|malignant hyperthermia, susceptibility to, type 3|Mhs3|malignant hyperthermia susceptibility type 3 Orphanet:423|MESH:C535696|OMIM:154276|GARD:0003365 https://rarediseases.info.nih.gov/diseases/3365/malignant-hyperthermia-susceptibility-type-3 owl:Class MONDO:0018752 biolink:NamedThing exercise-induced malignant hyperthermia tmpaxzxjjyw_mondo_relaxed.owl Exertional heat stroke Orphanet:466650|SCTID:735907005|ICD10:T88.3 owl:Class MONDO:0012171 biolink:NamedThing marfanoid habitus with situs inversus tmpaxzxjjyw_mondo_relaxed.owl marfanoid habitus with situs inversus OMIM:609008|UMLS:C1836994|MESH:C563814 owl:Class MONDO:0600011 biolink:NamedThing mild hypophosphatasia Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood. tmpaxzxjjyw_mondo_relaxed.owl attenuated hypophosphatasia http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0013037 biolink:NamedThing Giacheti syndrome tmpaxzxjjyw_mondo_relaxed.owl Marfanoid habitus and specific language and learning disabilities|Giacheti syndrome OMIM:612917|MESH:C567864|UMLS:C2752043 owl:Class MONDO:0011721 biolink:NamedThing distal myopathy with anterior tibial onset tmpaxzxjjyw_mondo_relaxed.owl distal anterior compartment myopathy|myopathy, distal, with anterior tibial onset|DMAT UMLS:C1847532|DOID:0111187|OMIM:606768|ICD10:G71.0|MESH:C564664|Orphanet:178400 owl:Class MONDO:0033044 biolink:NamedThing Meckel syndrome 13 tmpaxzxjjyw_mondo_relaxed.owl Meckel syndrome, type 13|Meckel syndrome 13|Joubert syndrome 29|MKS13 DOID:0080276|OMIM:617562|Orphanet:564|DOID:0080253 owl:Class MONDO:0022432 biolink:NamedThing alves Castelo dos Santos syndrome tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract MESH:C536593 owl:Class MONDO:0016570 biolink:NamedThing primary pulmonary lymphoma Primary pulmonary lymphoma (PPL) is a rare lymphoma of the lung, defined as a clonal lymphoid proliferation affecting one or both lungs (parenchyma and/or bronchi) in a patient with no detectable extrapulmonary involvement at diagnosis or during the subsequent 3 months. PPL comprises low grade/indolent B cell PPL forms, the most frequent form represented by the marginal B-cell lymphoma of mucosa associated lymphoid tissue (MALT lymphoma) and other non-MALT low grade lymphomas; and more rarely high-grade B-cell PPL (including diffuse large B cell lymphoma) and lymphomatoid granulomatosis (LYG). tmpaxzxjjyw_mondo_relaxed.owl ICD10:C85.7|Orphanet:2420|SCTID:718200007|MedDRA:10037418|UMLS:C0519063|UMLS:C4273669 Editor note: TODO check relationship to MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma owl:Class MONDO:0001327 biolink:NamedThing pelvic muscle wasting tmpaxzxjjyw_mondo_relaxed.owl DOID:11629|ICD10:N81.84|ICD9:618.83 owl:Class MONDO:0018321 biolink:NamedThing atypical juvenile parkinsonism Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. tmpaxzxjjyw_mondo_relaxed.owl SCTID:725146001|Orphanet:391411|OMIM:615528|OMIM:615530|UMLS:CN204972|UMLS:C4510873|ICD10:G20 owl:Class MONDO:0010063 biolink:NamedThing corneal-cerebellar syndrome A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985. tmpaxzxjjyw_mondo_relaxed.owl corneal-cerebellar syndrome|spinocerebellar degeneration-corneal dystrophy syndrome|corneal dystrophy with spinocerebellar Degeneration|Der Kaloustian-Jarudi-Khoury syndrome|Der Kaloustian Jarudi Khoury syndrome|spinocerebellar degeneration corneal dystrophy|corneal cerebellar syndrome|spinocerebellar degeneration and corneal dystrophy MESH:C535472|UMLS:C1849087|OMIM:271310|SCTID:720750004|GARD:0001525|ICD10:G11.1|Orphanet:3177 owl:Class MONDO:0016316 biolink:NamedThing mucopolysaccharidosis type 2, attenuated form Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline. tmpaxzxjjyw_mondo_relaxed.owl MPSIIB|MPS2B|mucopolysaccharidosis type 2B|mucopolysaccharidosis type 2, attenuated form|mucopolysaccharidosis type IIB|iduronate 2-sulfatase deficiency type B|Hunter syndrome type B|mucopolysaccharidosis type II, attenuated form UMLS:CN201132|ICD10:E76.1|Orphanet:217093 owl:Class MONDO:0011695 biolink:NamedThing melanoma, uveal, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl melanoma, uveal, susceptibility to, type 1|UVM1|melanoma, uveal, susceptibility to, 1 Orphanet:39044|OMIM:606660 https://github.com/monarch-initiative/mondo/issues/2656 owl:Class MONDO:0032736 biolink:NamedThing metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression tmpaxzxjjyw_mondo_relaxed.owl METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION|MECREN OMIM:618416 owl:Class MONDO:0007341 biolink:NamedThing cleidorhizomelic syndrome Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. tmpaxzxjjyw_mondo_relaxed.owl rhizomelic shortness with clavicular defect|Wallis-Zieff-Goldblatt syndrome|cleidorhizomelic syndrome|cleido rhizomelic syndrome|Wallis Zieff Goldblatt syndrome|brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle GARD:0005532|UMLS:C1861515|OMIM:119650|MESH:C536428|SCTID:719471002|ICD10:Q77.8|Orphanet:1453 https://rarediseases.info.nih.gov/diseases/5532/cleidorhizomelic-syndrome owl:Class MONDO:0020153 biolink:NamedThing cryptophthalmia A congenital abnormality characterized by the presence of a continuous layer of skin extending over the eyeballs and the absence of eyelids and the palpebral fissure. tmpaxzxjjyw_mondo_relaxed.owl cryptophthalmos DOID:0111716|SCTID:400951005|ICD9:743.06|GARD:0010505|NCIT:C124520|Orphanet:98562 owl:Class MONDO:0020404 biolink:NamedThing shone complex A congenital cardiovascular abnormality characterized by the presence of subvalvar left ventricular outflow tract obstruction, coarctation of the aorta, and mitral stenosis. tmpaxzxjjyw_mondo_relaxed.owl shone syndrome|shone's syndrome (greater than 3 sites) ICD9:746.84|SCTID:41371000119100|MedDRA:10066802|ICD10:Q23.8|UMLS:C1868705|NCIT:C99058|Orphanet:99063 owl:Class MONDO:0022787 biolink:NamedThing cleft palate heart disease polydactyly absent tibia tmpaxzxjjyw_mondo_relaxed.owl GARD:0001389 https://rarediseases.info.nih.gov/diseases/1389/cleft-palate-heart-disease-polydactyly-absent-tibia owl:Class MONDO:0011302 biolink:NamedThing type 1 diabetes mellitus 17 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 10q25. tmpaxzxjjyw_mondo_relaxed.owl insulin-dependent diabetes mellitus 17|IDDM17|diabetes mellitus, insulin-dependent, 17 ICD10:E10|UMLS:C1864068|OMIM:603266|DOID:0110754|MESH:C566395 owl:Class MONDO:0030263 biolink:NamedThing leukodystrophy, hypomyelinating, 21 tmpaxzxjjyw_mondo_relaxed.owl leukodystrophy, hypomyelinating, 21|HLD21 OMIM:619310 owl:Class MONDO:0006790 biolink:NamedThing hypercementosis A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl cementation hyperplasia UMLS:C0020441|GARD:0006692|EFO:1000970|MESH:D006936|DOID:12733|ICD10:K03.4|MedDRA:10020596|ICD9:521.5|SCTID:78537008 https://rarediseases.info.nih.gov/diseases/6692/hypercementosis owl:Class MONDO:0002191 biolink:NamedThing syringoma A benign sweat gland neoplasm usually affecting the lower eyelids and upper cheeks. The lesions are papular and are usually numerous. Morphologically, there are nests, cords, and tubules of epithelial cells present, surrounded by a dense stroma in the reticular dermis. tmpaxzxjjyw_mondo_relaxed.owl eccrine syringoma|syringoma ICDO:8407/0|UMLS:C0206673|GARD:0010547|MESH:D018252|SCTID:302828001|DOID:2065|NCIT:C3761 owl:Class MONDO:0012532 biolink:NamedThing hereditary hemorrhagic telangiectasia type 4 tmpaxzxjjyw_mondo_relaxed.owl HHT4|telangiectasia, hereditary hemorrhagic, type 4 Orphanet:774|OMIM:610655|GARD:0010615|MESH:C565691 https://rarediseases.info.nih.gov/diseases/10615/hereditary-hemorrhagic-telangiectasia-type-4 owl:Class HGNC:11102 biolink:NamedThing SMARCAL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100418 biolink:NamedThing acute myeloid leukemia, KIT exon 17 mutation Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 17 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 17 of the KIT gene located within 4q11-q12.) tmpaxzxjjyw_mondo_relaxed.owl AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 17 Mutation|AML, CD117 Exon 17 Mutation|AML, c-KIT Exon 17 Mutation|AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 17 Mutation|AML, KIT exon 17 mutation NCIT:C116396 owl:Class MONDO:0017102 biolink:NamedThing isolated focal cortical dysplasia type IIb tmpaxzxjjyw_mondo_relaxed.owl FCD type IIb Orphanet:269008|ICD10:Q04.8|OMIM:607341|UMLS:CN202460 owl:Class MONDO:0017956 biolink:NamedThing mixed autoinflammatory and autoimmune syndrome tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN204102|Orphanet:324933 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: autoinflammatory syndrome' MONDO_0019751 owl:Class MONDO:0020235 biolink:NamedThing lens size anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98652 owl:Class MONDO:0014681 biolink:NamedThing thyroid cancer, nonmedullary, 4 Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene. tmpaxzxjjyw_mondo_relaxed.owl FOXE1 thyroid cancer, nonmedullary|thyroid cancer, nonmedullary, 4|thyroid cancer, nonmedullary, type 4|NMTC4|thyroid cancer, nonmedullary caused by mutation in FOXE1 Orphanet:319487|OMIM:616534|UMLS:C4225293 owl:Class MONDO:0008814 biolink:NamedThing hyperargininemia Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. tmpaxzxjjyw_mondo_relaxed.owl hyperargininemia|deficiency of canavanase|argininemia|arginase deficiency|Arg1 deficiency UMLS:C0268548|DOID:9278|Orphanet:90|MESH:D020162|NCIT:C84568|ICD10:E72.21|ICD10:E72.2|OMIM:207800|SCTID:23501004|GARD:0005840|MedDRA:10062695 owl:Class MONDO:0400003 biolink:NamedThing skeletal fluorosis A condition that results from excessive fluoride ingestion leading to fluoride accumulation in the bone progressively over many years. The early symptoms of skeletal fluorosis, include stiffness and pain in the joints. In severe cases, the bone structure may change and ligaments may calcify, with resulting impairment of muscles and pain. tmpaxzxjjyw_mondo_relaxed.owl fluorosis of the skeleton http://orcid.org/0000-0002-7463-6306 owl:Class MONDO:0003862 biolink:NamedThing melanotic psammomatous malignant peripheral nerve sheath tumor A malignant peripheral nerve sheath tumor characterized by the presence of malignant cells that contain melanin and formation of psammoma bodies. tmpaxzxjjyw_mondo_relaxed.owl melanocytic psammomatous MPNST|melanotic psammomatous malignant peripheral nerve sheath tumor|melanocytic psammomatous malignant peripheral nerve sheath tumor UMLS:C1513101|NCIT:C6910|DOID:6344 owl:Class MONDO:0007470 biolink:NamedThing calvarial doughnut lesions-bone fragility syndrome This syndrome is characterised by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria. tmpaxzxjjyw_mondo_relaxed.owl doughnut lesions of skull, familial|familial doughnut lesions of skull SCTID:720598005|MESH:C565089|ICD10:M85.8|Orphanet:85192|OMIM:126550|UMLS:C1852022 owl:Class MONDO:0015313 biolink:NamedThing choanal atresia, bilateral Bilateral choanal atresia is a congenital anomaly that is usually sporadic (but some familial cases have been reported), is more commonly seen in females than in males (2:1), and where the nose is blocked on both sides by bony or soft tissue formed during embryological development. It is characterized by respiratory distress relieved by crying and rhinorrhea that presents at birth. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:137920|UMLS:CN199281|ICD10:Q30.0 owl:Class MONDO:0001626 biolink:NamedThing traumatic glaucoma tmpaxzxjjyw_mondo_relaxed.owl glaucoma associated with ocular trauma UMLS:C0339594|ICD9:365.65|DOID:13060|SCTID:68241007 owl:Class HP:0025234 biolink:NamedThing Parasomnia An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep. tmpaxzxjjyw_mondo_relaxed.owl 2016-12-14 11:50:48+00:00 HPO:probinson human_phenotype owl:Class MONDO:0018987 biolink:NamedThing granulomatous mastitis A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with breast feeding and the use of oral contraceptives. tmpaxzxjjyw_mondo_relaxed.owl idiopathic granulomatous lobular mastitis|granulomatous lobular mastitis|idiopathic granulomatous mastitis GARD:0013119|UMLS:C0405469|SCTID:237444008|MESH:D058890|ICD10:N61|Orphanet:64722 owl:Class MONDO:0020270 biolink:NamedThing pigmentation disorder with eye involvement tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:98700|UMLS:CN227844 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: syndromic disease' MONDO_0002254 owl:Class MONDO:0001261 biolink:NamedThing Mobitz type II atrioventricular block A disorder characterized by an electrocardiographic finding of intermittent failure of atrial electrical impulse conduction to the ventricles, characterized by a relatively constant PR interval prior to the block of an atrial impulse. (CDISC) tmpaxzxjjyw_mondo_relaxed.owl second degree atrioventricular block Möbitz type II|Mobitz type II second degree AV block|AV block second degree Mobitz type II|AV block second degree Möbitz type II|second degree atrioventricular block Mobitz type II|Mobitz (type) II atrioventricular block|Mobitz II|Möbitz II|type II second degree AV block|type II second degree atrioventricular block|Mobitz II atrioventricular block|type 2 2nd degree AV block|type 2 second degree AV block|Möbitz type II second degree AV block SCTID:28189009|NCIT:C62018|ICD9:426.12|DOID:11312|UMLS:C0155700 owl:Class HP:0003679 biolink:NamedThing Pace of progression tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025580 human_phenotype owl:Class MONDO:0024465 biolink:NamedThing surfactant metabolism dysfunction, pulmonary, 2 tmpaxzxjjyw_mondo_relaxed.owl desquamative interstitial pneumonitis due to surfactant Protein C deficiency|interstitial lung disease due to surfactant Protein C deficiency|SMDP2|surfactant metabolism dysfunction, pulmonary, 2|pulmonary alveolar proteinosis, congenital, 2 Orphanet:217566|Orphanet:440392|OMIM:610913 owl:Class MONDO:0011936 biolink:NamedThing microphthalmia with brain and digit anomalies Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development. tmpaxzxjjyw_mondo_relaxed.owl syndromic microphthalmia type 6|microphthalmia, syndromic 6|anophthalmia clinical with micrognathia malformed ears digital anomalies and abnormal external genitalia|microphthalmia syndromic 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|MCOPS6|Bakrania-Ragge syndrome|microphthalmia with brain and digit developmental anomalies|microphthalmia and pituitary anomalies|microphthalmia with brain and digit anomalies|microphthalmia, syndromic type 6 ICD10:Q11.2|SCTID:721878003|OMIM:607932|MESH:C566440|UMLS:C4303070|GARD:0003645|Orphanet:139471|UMLS:C1864689 owl:Class UBERON:0016886 biolink:NamedThing muscle tissue of terminal part of digestive tract tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017568 biolink:NamedThing Prata-Liberal-Goncalves syndrome Acrodysplasia scoliosis is a rare, genetic dysostosis disorder characterized by brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. tmpaxzxjjyw_mondo_relaxed.owl acrodysplasia scoliosis|brachydactyly-scoliosis-carpal fusion syndrome GARD:0000491|Orphanet:2956|ICD10:Q87.8|UMLS:CN203304|UMLS:C2931761 owl:Class MONDO:0022553 biolink:NamedThing BD syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0000841 https://rarediseases.info.nih.gov/diseases/841/bd-syndrome owl:Class MONDO:0014475 biolink:NamedThing spinocerebellar ataxia type 40 Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia 40|SCA40|spinocerebellar ataxia type 40 UMLS:CN219009|OMIM:616053|UMLS:C4518336|DOID:0050986|SCTID:734020000|GARD:0012371|Orphanet:423275|EFO:0009057|UMLS:CN237494|ICD10:G11.8 owl:Class MONDO:0004874 biolink:NamedThing ganglion or cyst of synovium/tendon/bursa tmpaxzxjjyw_mondo_relaxed.owl ICD9:727.49|DOID:9754 owl:Class UBERON:0003435 biolink:NamedThing pedal digit nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0007475 biolink:NamedThing matrix-based tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:376913 biolink:NamedThing Haplorrhini tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004256 biolink:NamedThing lumbar spinal canal and spinal cord meningioma A meningioma that arises from the meninges of the lumbar region of the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl meningioma of the lumbar spinal canal and spinal cord|lumbar intraspinal meningioma|meningioma of lumbar spinal canal and spinal cord NCIT:C5298|DOID:7515|UMLS:C1334436 owl:Class MONDO:0001681 biolink:NamedThing diphtheritic cystitis A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. tmpaxzxjjyw_mondo_relaxed.owl DOID:13306|ICD9:032.84|ICD10:A36.85|UMLS:C0152954|SCTID:48278001 owl:Class MONDO:0100067 biolink:NamedThing childhood spindle cell rhabdomyosarcoma A spindle cell rhabdomyosarcoma occurring in children. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123397 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0032799 biolink:NamedThing mitochondrial DNA depletion syndrome 16 (hepatic type) tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)|MTDPS16 OMIM:618528 owl:Class UBERON:0003393 biolink:NamedThing mesentery of urinary system tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006820 biolink:NamedThing kidney cortex necrosis Death of cells in the kidney cortex, a common final result of various renal injuries including hypoxia; ischemia; and drug toxicity. tmpaxzxjjyw_mondo_relaxed.owl renal cortical necrosis ICD9:583.6|SCTID:444691002|MESH:D007673|MedDRA:10023414|ICD10:N17.1|DOID:2973|EFO:1001003 owl:Class MONDO:0008014 biolink:NamedThing nondisjunction tmpaxzxjjyw_mondo_relaxed.owl mosaicism, chromosomal|mixoploidy, familial|nondisjunction OMIM:158250|UMLS:C1834741 owl:Class MONDO:0006300 biolink:NamedThing medullomyoblastoma with myogenic differentiation A rare malignant embryonal neoplasm arising from the cerebellum. It is characterized by the morphologic features of a medulloblastoma and the presence of a striated muscle component. Its clinical behavior is similar to medulloblastoma. tmpaxzxjjyw_mondo_relaxed.owl MMB|medullomyoblastoma|medullomyoblastoma with myogenic differentiation DOID:3861|ICDO:9472/3|MESH:D008527|NCIT:C3706|ONCOTREE:MMB|EFO:1000368|UMLS:C0205833 owl:Class MONDO:0021994 biolink:NamedThing Berk-Tabatznik syndrome tmpaxzxjjyw_mondo_relaxed.owl congenital optic atrophy and brachytelephalangy|Berk Tabatznik syndrome|cleft nare, brachydactyly, short stature-dwarfism|cleft nare, brachydactyly, short stature dwarfism|kyphosis brachyphalangy optic atrophy|short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges GARD:0005109|MESH:C535432|UMLS:C2930899 https://rarediseases.info.nih.gov/diseases/5109/berk-tabatznik-syndrome owl:Class MONDO:0014727 biolink:NamedThing immunodeficiency 45 tmpaxzxjjyw_mondo_relaxed.owl IMD45|immunodeficiency 45|immunodeficiency type 45 OMIM:616669|UMLS:C4225252 owl:Class MONDO:0033563 biolink:NamedThing retinitis pigmentosa 90 tmpaxzxjjyw_mondo_relaxed.owl RETINITIS PIGMENTOSA 90|RP90 OMIM:619007 owl:Class MONDO:0007817 biolink:NamedThing IgE responsiveness, atopic Immediate hypersensitivity reaction - type I reaction, involves immunoglobulin E (IgE)-mediated release of chemical mediators from mast cells and basophils. Th2 cells produce IL-4 and IL-13, which then act on B cells to promote the production of antigen-specific IgE. Reexposure to the antigen can then result in the antigen binding to and cross-linking the bound IgE antibodies on the mast cells and basophils. This causes the release of preformed mediators (histamine, tryptase, tryptase, chemotactic factors), newly synthesized mediators (leukotrienes, prostaglandin, thromboxane, platelet-activating factor, adenosine, bradykinin), and cytokines from these cells that results in structural and functional changes to the affected tissue. tmpaxzxjjyw_mondo_relaxed.owl atopy, susceptibility to|type 1 hypersensitivity|IgE, elevated level of|IgE response underlying allergic asthma and rhinitis|Atopic hypersensitivity|type 1 hypersensitivity reaction|type I hypersensitivity reaction|type I immediate hypersensitivity reaction|IgE responsiveness, atopic|Immunoglobulin E, basic level of, in serum|IGER|type I hypersensitivity|immediate hypersensitivity|IgE responsiveness, ATOPIC|IgE, level of OMIM:147050|NCIT:C3116|UMLS:C1840253 owl:Class MONDO:0018507 biolink:NamedThing microcephaly-complex motor and sensory axonal neuropathy syndrome Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:423894|ICD10:G60.0|UMLS:CN237512 owl:Class MONDO:0008307 biolink:NamedThing presenile dementia, Kraepelin type tmpaxzxjjyw_mondo_relaxed.owl Kraepelin disease|presenile dementia, Kraepelin type|catatonia of Kraepelin OMIM:176600|UMLS:C1867772|MESH:C535273|GARD:0010032 https://rarediseases.info.nih.gov/diseases/10032/presenile-dementia-kraepelin-type owl:Class MONDO:0012127 biolink:NamedThing autosomal recessive limb-girdle muscular dystrophy type 2J Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, limb-girdle, type 2J|LGMD2J|limb-girdle muscular dystrophy type 2J|TTN autosomal recessive limb-girdle muscular dystrophy|autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN UMLS:C1837342|ICD10:G71.0|Orphanet:140922|OMIM:608807|MESH:C563854|DOID:0110283|GARD:0012534 owl:Class MONDO:0011955 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 4 tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, noninsulin-dependent, type 4|diabetes mellitus, noninsulin-dependent, 4|noninsulin-dependent diabetes mellitus 4|Niddm4 OMIM:608036|MESH:C564299|UMLS:C1842642 owl:Class MONDO:0005063 biolink:NamedThing medullary breast carcinoma An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent. tmpaxzxjjyw_mondo_relaxed.owl breast medullary carcinoma|invasive medullary carcinoma of the breast|infiltrating medullary carcinoma of breast|medullary breast carcinoma with lymphoid Stroma|invasive medullary carcinoma of breast|infiltrating medullary carcinoma of the breast|medullary breast carcinoma|medullary breast cancer|invasive medullary breast carcinoma|medullary carcinoma of the breast|medullary carcinoma of breast UMLS:C0860580|ICDO:8512/3|NCIT:C9119|EFO:0000580|DOID:5605 owl:Class NCBITaxon:1399768 biolink:NamedThing Basidiobolomycetes tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001175 biolink:NamedThing immature cataract A cataract disease in which the cataract contains some transparent protein tmpaxzxjjyw_mondo_relaxed.owl incipient senile cataract|incipient cataract|water clefts DOID:10997|UMLS:C2939157|UMLS:C0271163|UMLS:C2960113|SCTID:446474007|ICD10:H25.09 owl:Class MONDO:0023577 biolink:NamedThing Krieble Bixler syndrome tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant blepharophimosis with multiple congenital anomalies MESH:C537619|UMLS:C2931550|GARD:0003144 https://rarediseases.info.nih.gov/diseases/3144/krieble-bixler-syndrome owl:Class MONDO:0005673 biolink:NamedThing blind loop syndrome A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis. tmpaxzxjjyw_mondo_relaxed.owl bacterial overgrowth syndrome|stasis (blind loop) syndrome|blind loop syndrome|stasis syndrome NCIT:C34431|DOID:10606|MESH:D001765|UMLS:C0005750|SCTID:66379009|ICD10:K90.2|EFO:0007175|ICD9:579.2 owl:Class MONDO:0012734 biolink:NamedThing SERKAL syndrome SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterised by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. tmpaxzxjjyw_mondo_relaxed.owl Sex reversion-kidneys, adrenal and lung dysgenesis syndrome|SERKAL|SERKAL syndrome|46,XX Sex reversal with dysgenesis of kidneys Adrenals and lungs|46,XX SEX reversal with dysgenesis of kidneys, ADRENALS, and lungs GARD:0010302|OMIM:611812|ICD10:Q87.8|SCTID:723720008|NCIT:C123726|Orphanet:139466|UMLS:C2678492|MESH:C567517 owl:Class MONDO:0008372 biolink:NamedThing retinal aplasia tmpaxzxjjyw_mondo_relaxed.owl retinal aplasia|amaurosis congenita Orphanet:65|OMIM:179900|MESH:C566720|UMLS:C1867331 owl:Class MONDO:0012018 biolink:NamedThing myopathy, myosin storage, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl myopathy, hyaline body, autosomal dominant|MSMA|myopathy with lysis of type 1 myofibrils|myopathy, myosin storage, autosomal dominant MESH:C564253|ICD9:359.89|Orphanet:53698|OMIM:608358|UMLS:C1842160|SCTID:699267007 owl:Class MONDO:0010174 biolink:NamedThing Valinemia Valinemia is a very rare metabolic disorder characterized by abnormally high levels of the amino acid valine in the blood and urine.Infants with valinemia reportedly experience lack of appetite, vomiting, and failure to thrive. In some cases, the condition may be life-threatening. Low muscle tone (hypotonia), excessive drowsiness, hyperactivity, and developmental delay have also been reported. Valinemia is caused by a deficiency of the enzymevaline transaminase, which is needed for the breakdown (metabolism) of valine in the body. It is inherited in an autosomal recessive manner, although the gene responsible for the condition is not yet known. Treatment includes adiet low in valine (introduced during early infancy) which usually improves symptoms and brings valine levels to normal. tmpaxzxjjyw_mondo_relaxed.owl hypervalinemia|valine transaminase deficiency|Valinemia SCTID:47719001|MESH:C536524|GARD:0007845|OMIM:277100|UMLS:C0268573 https://rarediseases.info.nih.gov/diseases/7845/valinemia owl:Class HGNC:2909 biolink:NamedThing DLL3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011697 biolink:NamedThing Waardenburg syndrome type 2C A Waardenburg's syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has material basis in variation in the chromosome region 8p23. tmpaxzxjjyw_mondo_relaxed.owl WS2C|Waardenburg syndrome, type 2C|Waardenburg syndrome type IIC MESH:C564684|DOID:0110951|Orphanet:3440|OMIM:606662|UMLS:C1847722|Orphanet:895 owl:Class MONDO:0015314 biolink:NamedThing primary laryngeal lymphangioma Primary laryngeal lymphangioma is a rare, benign, congenital malformation of the lymphatic system characterized by a polypoidal, variable-sized, soft tissue mass located in the larynx. Most lesions manifest by the 2nd year of life and, depending on the size, patients may present with changes in voice, dysphagia, stridor, airway obstruction and/or respiratory distress. Cystic hygroma of the neck is frequently associated. tmpaxzxjjyw_mondo_relaxed.owl ICD10:D18.1|Orphanet:137926|SCTID:763617006 owl:Class MONDO:0023084 biolink:NamedThing epiphyseal dysplasia dysmorphism camptodactyly tmpaxzxjjyw_mondo_relaxed.owl GARD:0002177 https://rarediseases.info.nih.gov/diseases/2177/epiphyseal-dysplasia-dysmorphism-camptodactyly owl:Class NCIT:C7057 biolink:NamedThing Disease, Disorder or Finding tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008088 biolink:NamedThing neuropathy, with paraprotein in serum, cerebrospinal fluid and urine tmpaxzxjjyw_mondo_relaxed.owl neuropathy, with paraprotein in serum, cerebrospinal fluid and urine UMLS:C1834180|MESH:C563516|OMIM:162600 owl:Class MONDO:0001959 biolink:NamedThing labyrinthine bilateral reactive loss tmpaxzxjjyw_mondo_relaxed.owl loss of labyrinthine reactivity, bilateral|bilateral loss of labyrinthine reactivity DOID:14413|UMLS:C0155520|SCTID:194377001|ICD9:386.56 owl:Class CL:0000467 biolink:NamedThing adrenocorticotropic hormone secreting cell A peptide hormone secreting cell that produces adrenocorticotropin, or corticotropin. tmpaxzxjjyw_mondo_relaxed.owl ACTH secreting cell|adrenocorticotrophic hormone secreting cell|corticotropin secreting cell|corticotropin hormone secreting cell|corticotrophin hormone secreting cell CL:0000640 cell owl:Class CHEBI:52395 biolink:NamedThing oxyketone A compound with the general formula R2C=O (R=/=H) where one or more of the R groups contains an oxy (-O-) group. tmpaxzxjjyw_mondo_relaxed.owl oxyketones owl:Class MONDO:0003942 biolink:NamedThing eosinophilic variant of chromophobe renal cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl eosinophilic variant of chromophobe renal cell carcinoma NCIT:C27889|UMLS:C1333405|DOID:6606 owl:Class MONDO:0015095 biolink:NamedThing Peters anomaly-cataract syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q13.3|UMLS:C2931652|MESH:C537885|Orphanet:101033 owl:Class MONDO:0005698 biolink:NamedThing cervical incompetence A clinical diagnosis presenting with painless cervical dilatation and spontaneous mid-trimester birth in recurrent pregnancies in the absence of spontaneous membrane rupture, bleeding or clinical chorioamnionitis. tmpaxzxjjyw_mondo_relaxed.owl MESH:D002581|SCTID:17382005|ICD10:N88.3|NCIT:C50607|DOID:9681|ICD9:622.5|EFO:0007202|ICD9:654.50 owl:Class MONDO:0007227 biolink:NamedThing Sillence syndrome Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly-distal symphalangism syndrome|brachydactyly-symphalangism syndrome Orphanet:3168|OMIM:113450|UMLS:C1862092|MESH:C537338|SCTID:732956000|ICD10:Q74.8|GARD:0004869 owl:Class MONDO:0001405 biolink:NamedThing dermatophytosis of groin and perianal area Dermatophytosis involving the stratum corneum of the skin of the groin and perianal area. tmpaxzxjjyw_mondo_relaxed.owl dermatophytosis of groin and perianal area|Dhobie itch|tinea cruris|dermatophytosis of groin & perianal area DOID:11917|UMLS:C0011638|ICD9:110.3|SCTID:399029005|NCIT:C34535 owl:Class MONDO:0011126 biolink:NamedThing acute insulin response tmpaxzxjjyw_mondo_relaxed.owl Air|acute insulin response OMIM:601676 owl:Class MONDO:0000754 biolink:NamedThing anal fistula A pathologic tract that connects an opening in the anal canal to the perianal skin. In the vast majority of cases there is a history of perianal abscess. tmpaxzxjjyw_mondo_relaxed.owl anorectal fistula|anal fistula (disease)|anal fistula anal fistula (disease) HP:0010447|ICD10:K60.3|Orphanet:228113|DOID:0060328|MESH:D012003|NCIT:C60785|SCTID:72779005 owl:Class NCBITaxon:103829 biolink:NamedThing Thelazioidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018250 biolink:NamedThing diffuse palmoplantar keratoderma with painful fissures tmpaxzxjjyw_mondo_relaxed.owl Orphanet:369999|ICD10:Q82.8|UMLS:CN204824|OMIM:148700 owl:Class MONDO:0010628 biolink:NamedThing immunoglobulin M, level of tmpaxzxjjyw_mondo_relaxed.owl immunoglobulin M, level of OMIM:308250 owl:Class MONDO:0043975 biolink:NamedThing autonomic dysreflexia A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60) tmpaxzxjjyw_mondo_relaxed.owl Dysreflexia, autonomic|dysreflexia|spinal autonomic Dysreflexias|autonomic Dysreflexias, spinal|spinal autonomic Dysreflexia|Dysreflexias, autonomic|autonomic dysreflexia|hyperreflexia, autonomic|Dysreflexias, spinal autonomic|hyperreflexias, autonomic|Dysreflexia, spinal autonomic|autonomic Dysreflexia, spinal|autonomic Hyperreflexias|autonomic hyperreflexia|autonomic Dysreflexias EFO:1001762|MESH:D020211|UMLS:C0238015|SCTID:129618003 owl:Class MONDO:0016489 biolink:NamedThing delta-beta-thalassemia Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis. tmpaxzxjjyw_mondo_relaxed.owl ICD9:282.49|SCTID:16360009|OMIM:141749|MESH:C562716|MedDRA:10012236|NCIT:C172823|ICD10:D56.2|Orphanet:231237 owl:Class MONDO:0043083 biolink:NamedThing coronal synostosis, syndactyly and jejunal atresia tmpaxzxjjyw_mondo_relaxed.owl asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia MESH:C536445|UMLS:C2931194|GARD:0001532 owl:Class HGNC:18021 biolink:NamedThing TMC6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003246 biolink:NamedThing sclerosing hepatic carcinoma An uncommon type of hepatocelluar carcinoma, morphologically characterized by significant fibrosis around the sinusoid-like spaces and atrophy of the tumor trabeculae. tmpaxzxjjyw_mondo_relaxed.owl scirrhous hepatocellular carcinoma|sclerosing hepatocellular carcinoma|scirrhous hepatocellular cancer|sclerosing hepatic carcinoma NCIT:C27388|UMLS:C1266018|ICDO:8172/3|DOID:5026 owl:Class MONDO:0018789 biolink:NamedThing COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy tmpaxzxjjyw_mondo_relaxed.owl COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy 2022-03-01 UMLS:CN776856|Orphanet:477762 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: COL4A1 or COL4A2-related cerebral small vessel disease' MONDO_0018788 owl:Class MONDO:0006817 biolink:NamedThing juxtacortical osteosarcoma A low grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. It usually affects the distal posterior femur, the proximal tibia, and proximal humerus. Painless swelling is the usual clinical sign. Most patients are young adults and the prognosis is usually excellent. tmpaxzxjjyw_mondo_relaxed.owl parosteal osteogenic sarcoma|juxtacortical osteosarcoma|parosteal osteosarcoma|PAOS|juxtacortical osteogenic sarcoma ONCOTREE:PAOS|DOID:3373|UMLS:C0206642|EFO:1001000|ICDO:9192/3|MESH:D018217|NCIT:C8969 owl:Class MONDO:0024457 biolink:NamedThing neurodegeneration with brain iron accumulation 2A tmpaxzxjjyw_mondo_relaxed.owl Hunter-Carpenter-McDonald syndrome|infantile neuroaxonal dystrophy 1|neurodegeneration with brain iron accumulation 2A|inaD|INAD1|neurodegeneration, PLA2G6-associated|PLAN|neurodegeneration, Pla2g6-associated|Hunter Carpenter Macdonald syndrome|neuroaxonal dystrophy, infantile|Seitelberger disease|infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy|infantile neuroaxonal dystrophy|KARAK syndrome, included|neurodegeneration with brain iron accumulation type 2a|NBIA2A|neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene|neurodegeneration with brain iron accumulation type 2A|neurodegeneration, Pla2G6-associated|phospholipase A2-associated neurodegeneration OMIM:610217|Orphanet:35069|ICD9:330.8|DOID:0110735|OMIM:256600|SCTID:52713000|ICD10:G23.0|MESH:C536071|GARD:0003957|GARD:0002751|NCIT:C84927 AR PLA2G6 https://rarediseases.info.nih.gov/diseases/2751/hunter-carpenter-macdonald-syndrome owl:Class MONDO:0022874 biolink:NamedThing corpus callosum dysgenesis hypopituitarism tmpaxzxjjyw_mondo_relaxed.owl GARD:0001542 https://rarediseases.info.nih.gov/diseases/1542/corpus-callosum-dysgenesis-hypopituitarism owl:Class MONDO:0006377 biolink:NamedThing pleural biphasic mesothelioma Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor. tmpaxzxjjyw_mondo_relaxed.owl pleural biphasic mesothelioma NCIT:C45665|EFO:1000483|UMLS:C1709570 owl:Class MONDO:0012814 biolink:NamedThing diastasis recti and weakness of the linea alba tmpaxzxjjyw_mondo_relaxed.owl diastasis recti and weakness of the linea alba MESH:C567402|OMIM:612198|UMLS:C2677303 owl:Class MONDO:0015165 biolink:NamedThing acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposid, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. tmpaxzxjjyw_mondo_relaxed.owl AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor ICD10:C92.0|UMLS:CN197505|Orphanet:102381 owl:Class MONDO:0003306 biolink:NamedThing atypical neurofibroma A neurofibroma characterized by the presence of cellular pleomorphism. tmpaxzxjjyw_mondo_relaxed.owl atypical neurofibroma NCIT:C41426|DOID:5153|UMLS:C1510961 owl:Class HGNC:7501 biolink:NamedThing MT-TW tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030334 biolink:NamedThing encephalitis, acute, infection (viral)-induced, susceptibility to, 11 tmpaxzxjjyw_mondo_relaxed.owl encephalitis, acute, infection (viral)-induced, susceptibility to, 11|IIAE11 OMIM:619441 owl:Class MONDO:0030873 biolink:NamedThing cardiofacioneurodevelopmental syndrome tmpaxzxjjyw_mondo_relaxed.owl CFNDS OMIM:619123 owl:Class MONDO:0007123 biolink:NamedThing ankyloblepharon filiforme adnatum-cleft palate syndrome tmpaxzxjjyw_mondo_relaxed.owl AFA|ankyloblepharon filiforme adnatum and cleft palate|ankyloblepharon filiforme adnatum cleft palate|ankyloblepharon filiforme adnatum|congenital filiform fusion of the eyelids with cleft palate and/or cleft lip|ankyloblepharon filiforme congenitum UMLS:C1302999|OMIM:106250|Orphanet:1072|MESH:C536373|GARD:0000696|ICD10:Q87.0|SCTID:400952003 owl:Class MONDO:0010061 biolink:NamedThing autosomal recessive cerebellar ataxia-blindness-deafness syndrome tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome|spinocerebellar ataxia, autosomal recessive 3|SCABD|autosomal recessive spinocerebellar ataxia type 3|spinocerebellar ataxia with blindness and deafness|autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome|spinocerebellar ataxia autosomal recessive 3|autosomal recessive cerebellar ataxia - blindness - deafness|SCAR3 ICD10:G11.1|UMLS:C1849094|DOID:0111612|OMIM:271250|GARD:0009971|MESH:C537309|Orphanet:95433 owl:Class MONDO:0045039 biolink:NamedThing systemic basidiobolomycosis tmpaxzxjjyw_mondo_relaxed.owl disseminated basidiobolomycosis SCTID:240787008|UMLS:C0343967 owl:Class UBERON:0011252 biolink:NamedThing scent gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054850 biolink:NamedThing ovarian dysgenesis 6 tmpaxzxjjyw_mondo_relaxed.owl ovarian dysgenesis 6|ODG6 DOID:0080498|OMIM:618078 owl:Class MONDO:0015553 biolink:NamedThing dystrophic epidermolysis bullosa, nails only Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB) that shows no blistering and that is characterized by dystrophic or absent nails. tmpaxzxjjyw_mondo_relaxed.owl DEB-na|dominant dystrophic epidermolysis bullosa, nails only|nails-only DDEB|nails-only DEB Orphanet:158676|SCTID:722436002|UMLS:CN199732|ICD10:Q81.2 owl:Class HGNC:758 biolink:NamedThing ASS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012884 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 13 tmpaxzxjjyw_mondo_relaxed.owl SLEB13|systemic lupus erythematosus, susceptibility to, 13 OMIM:612378 owl:Class HP:0011282 biolink:NamedThing Abnormality of hindbrain morphology An abnormality of the hindbrain, also known as the rhombencephalon. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the hindbrain|Abnormal shape of hindbrain UMLS:C4021170 The hindbrain consists of two main structures: The pons and the cerebellum. peter 2012-01-01T01:22:36Z human_phenotype owl:Class HGNC:4053 biolink:NamedThing ISG15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043988 biolink:NamedThing zoster sine herpete Herpes zoster but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult. tmpaxzxjjyw_mondo_relaxed.owl zoster sine herpete|Zoster sine Eruptione MESH:D031368|UMLS:C1135841|SCTID:449783002|EFO:1001827 owl:Class ENVO:01001780 biolink:NamedThing desert ecosystem An ecosystem in which the composition, structure, and function of resident ecological assemblages are primarily determined by a desert. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007050 biolink:NamedThing acromegaloid changes, cutis verticis gyrata, and corneal leukoma tmpaxzxjjyw_mondo_relaxed.owl acromegaloid changes, cutis verticis gyrata, and corneal leukoma|Rosenthal-Kloepfer syndrome|acromegaly-cutis verticis gyrata-corneal leukoma syndrome|acromegaloid changes, cutis verticis gyrata and corneal leukoma UMLS:CN225973|OMIM:102100|Orphanet:964|GARD:0000500|MESH:C535654 https://rarediseases.info.nih.gov/diseases/500/acromegaloid-changes-cutis-verticis-gyrata-and-corneal-leukoma owl:Class HGNC:17210 biolink:NamedThing DHX37 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019310 biolink:NamedThing recessive dystrophic epidermolysis bullosa inversa Recessive dystrophic epidermolysis bullosa inversa (RDEB-I) is rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blisters and erosions which are primarily confined to intertriginous skin sites, the base of the neck, the uppermost back, and the lumbosacral area. tmpaxzxjjyw_mondo_relaxed.owl inverse RDEB|RDEB-I|dystrophic epidermolysis bullosa inversa|inverse recessive dystrophic epidermolysis bullosa Orphanet:79409|UMLS:CN205951|ICD10:Q81.2|OMIM:226600 owl:Class HP:0002815 biolink:NamedThing Abnormality of the knee An abnormality of the knee joint or surrounding structures. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the knee UMLS:C4025676 human_phenotype owl:Class MONDO:0019307 biolink:NamedThing generalized junctional epidermolysis bullosa non-Herlitz type Generalized non-Herlitz-type junctional epidermolysis bullosa is a form of non-Herlitz-type junctional epidermolysis bullosa (JEB-nH) characterized by generalized skin blistering, atrophic scarring, nail dystrophy or nail absence, and enamel hypoplasia, with extracutaneous involvement. tmpaxzxjjyw_mondo_relaxed.owl junctional epidermolysis bullosa generalisata mitis|generalized junctional epidermolysis bullosa, non-Herlitz type|junctional epidermolysis bullosa, generalized intermediate|junctional epidermolysis bullosa non-Herlitz type|GABEB|JEB, generalized intermediate|generalized atrophic benign epidermolysis bullosa|JEB-nH gen|junctional epidermolysis bullosa, Disentis type DOID:0060738|Orphanet:89840|OMIM:226650|Orphanet:79402|GARD:0012922|ICD10:Q81.8|SCTID:724225008 owl:Class MONDO:0011842 biolink:NamedThing Grn-related frontotemporal lobar degeneration with Tdp43 inclusions A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31. tmpaxzxjjyw_mondo_relaxed.owl dementia, hereditary dysphasic disinhibition|frontotemporal dementia, ubiquitin-positive|frontotemporal lobar Degeneration with ubiquitin-positive inclusions|Ftld-TDP, Grn-related|frontotemporal dementia with Tdp43 inclusions, Grn-related|aphasia, primary progressive|frontotemporal lobar degeneration with Tdp43 inclusions, Grn-related Orphanet:282|ICD10:G31.0|UMLS:C0282513|OMIM:607485|Orphanet:100070|DOID:0060672 owl:Class HGNC:25396 biolink:NamedThing FREM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020778 biolink:NamedThing cone-rod dystrophy and hearing loss 1 tmpaxzxjjyw_mondo_relaxed.owl CONE-ROD DYSTROPHY AND HEARING LOSS 1|CRDHL1|Crdhl OMIM:617236 owl:Class MONDO:0019435 biolink:NamedThing rheumatoid factor-positive polyarticular juvenile idiopathic arthritis A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. tmpaxzxjjyw_mondo_relaxed.owl juvenile idiopathic rheumatoid factor-positive polyarthritis|polyarticular juvenile idiopathic arthritis, rheumatoid Factor Positive|polyarthritis with rheumatoid factor|polyarticular juvenile idiopathic arthritis, RF+|rheumatoid factor-positive polyarticular JIA|polyarticular JIA, RF+ ICD10:M08.0|NCIT:C119034|UMLS:C3890733|Orphanet:85435 owl:Class HGNC:9987 biolink:NamedThing RFXANK tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018013 biolink:NamedThing non-immunoglobulin-mediated membranoproliferative glomerulonephritis tmpaxzxjjyw_mondo_relaxed.owl non-Ig-mediated MPGN|C3 glomerulopathy|non-Ig-mediated membranoproliferative glomerulonephritis|non-immunoglobulin-mediated MPGN Orphanet:329918|ICD10:N00.5|OMIM:614809|OMIM:609814 owl:Class NCBITaxon:73421 biolink:NamedThing Dicrocoeliidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class ENVO:01000637 biolink:NamedThing outer space Outer space is a hard vacuum containing a low density of particles, predominantly a plasma of hydrogen and helium as well as electromagnetic radiation, magnetic fields, neutrinos, dust and cosmic rays that exists between celestial bodies. tmpaxzxjjyw_mondo_relaxed.owl space owl:Class MONDO:0014272 biolink:NamedThing palmoplantar keratoderma, Nagashima type Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda. tmpaxzxjjyw_mondo_relaxed.owl PPK, Nagashima type|palmoplantar hyperkeratosis, Nagashima type|PPKN|palmoplantar keratoderma, Nagashima type Orphanet:140966|OMIM:615598|SCTID:722205008|ICD10:Q82.8|UMLS:C3810072 owl:Class NCBITaxon:620 biolink:NamedThing Shigella tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:26834722 ncbi_taxonomy owl:Class MONDO:0001843 biolink:NamedThing uterus interstitial leiomyoma tmpaxzxjjyw_mondo_relaxed.owl intramural leiomyoma of uterus SCTID:93616000|DOID:13955|ICD9:218.1|UMLS:C0153994|ICD10:D25.1 owl:Class MONDO:0032794 biolink:NamedThing leber congenital amaurosis 19 tmpaxzxjjyw_mondo_relaxed.owl LEBER CONGENITAL AMAUROSIS 19|LCA19 OMIM:618513 owl:Class MONDO:0019626 biolink:NamedThing isolated ankyloblepharon filiforme adnatum Isolated ankyloblepharon filiforme adnatum (AFA) is characterised by the presence of single or multiple thin bands of connective tissue between the upper and lower eyelids, preventing full opening of the eye. Several cases have been reported. It can occur sporadically or following an autosomal dominant transmission pattern. In some cases, AFA can be associated with other disorders, such as trisomy 18. The bands should be removed to avoid amblyopia and this can easily be performed in the neonatal period by cutting with tissue scissors. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:91397|ICD10:Q10.3 owl:Class MONDO:0012385 biolink:NamedThing metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands tmpaxzxjjyw_mondo_relaxed.owl metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands|cupped metaphyses and cone-Shaped epiphyses without alopecia or brachydactyly UMLS:C1864944|MESH:C537354|GARD:0009942|OMIM:609989 https://rarediseases.info.nih.gov/diseases/9942/metaphyseal-chondrodysplasia-with-cone-shaped-epiphyses-normal-hair-and-normal-hands owl:Class NCBITaxon:50557 biolink:NamedThing Insecta tmpaxzxjjyw_mondo_relaxed.owl true insects|insects GC_ID:1 ncbi_taxonomy owl:Class NCBITaxon:6960 biolink:NamedThing Hexapoda tmpaxzxjjyw_mondo_relaxed.owl insects|hexapods|Atelocerata|Uniramia|Tracheata GC_ID:1 ncbi_taxonomy owl:Class MONDO:0010755 biolink:NamedThing vesicoureteral reflux, X-linked tmpaxzxjjyw_mondo_relaxed.owl VURX|vesicoureteral reflux, X-linked MESH:C564042|OMIM:314550|UMLS:C1839114 owl:Class MONDO:0002963 biolink:NamedThing acantholytic acanthoma A benign epithelial neoplasm of the skin. It presents as a papular or nodular lesion. Morphologically, it is characterized by the presence of hyperkeratosis, acanthosis, papillomatosis, and prominent acantholysis. tmpaxzxjjyw_mondo_relaxed.owl acantholytic acanthoma DOID:4324|UMLS:C1301270|NCIT:C27517 owl:Class NCIT:C19160 biolink:NamedThing Occupation or Discipline A grouping of occupations and fields of study. tmpaxzxjjyw_mondo_relaxed.owl Occupation or Discipline owl:Class NCIT:C20181 biolink:NamedThing Conceptual Entity An organizational header for concepts representing mostly abstract entities. tmpaxzxjjyw_mondo_relaxed.owl Conceptual Entity owl:Class MONDO:0022949 biolink:NamedThing defective apolipoprotein b-100 tmpaxzxjjyw_mondo_relaxed.owl GARD:0001720 https://rarediseases.info.nih.gov/diseases/1720/defective-apolipoprotein-b-100 owl:Class MONDO:0016607 biolink:NamedThing odontohypophosphatasia Odontohypophosphatasia (odonto-HPP) is the least severe form of hypophosphatasia characterized by premature exfoliation of primary and/or permanent teeth and/or severe dental caries, in the absence of skeletal system abnormalities. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E83.3|SCTID:708672004|OMIM:146300|NCIT:C131309|UMLS:C1840322|Orphanet:247685 owl:Class MONDO:0002016 biolink:NamedThing benign familial neonatal epilepsy A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5) tmpaxzxjjyw_mondo_relaxed.owl familial neonatal seizures SCTID:279953009|DOID:14777|GARD:0002159 owl:Class MONDO:0005670 biolink:NamedThing blackwater fever A complication of malaria resulting from hemolysis. tmpaxzxjjyw_mondo_relaxed.owl blackwater fever|Black water fever|malarial hemoglobinuria|hemoglobinuric, malaria SCTID:56625005|UMLS:C0005681|NCIT:C34426|EFO:0007172|MESH:D001742|DOID:14068|ICD9:084.8 owl:Class MONDO:0002077 biolink:NamedThing low implantation of placenta tmpaxzxjjyw_mondo_relaxed.owl DOID:1677|SCTID:7792000|ICD10:O44.0|ICD9:641.0 owl:Class MONDO:0005918 biolink:NamedThing placenta praevia Abnormal placentation in which the placenta implants in the lower segment of the uterus (the zone of dilation) and may cover part or all of the opening of the cervix. It is often associated with serious antepartum bleeding and premature labor. tmpaxzxjjyw_mondo_relaxed.owl placenta praevia|placenta previa SCTID:36813001|ICD10:O44|EFO:0007442|DOID:11060|NCIT:C26858|MESH:D010923 owl:Class MONDO:0013149 biolink:NamedThing hydrops fetalis, nonimmune, with gracile bones and dysmorphic features tmpaxzxjjyw_mondo_relaxed.owl hydrops fetalis, nonimmune, with gracile bones and dysmorphic features MESH:C567731|UMLS:C2751073|OMIM:613124 owl:Class GO:0016229 biolink:NamedThing steroid dehydrogenase activity Catalysis of an oxidation-reduction (redox) reaction in which one substrate is a sterol derivative. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001782 biolink:NamedThing mature cataract A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity. tmpaxzxjjyw_mondo_relaxed.owl total or mature cataract|total, mature senile cataract SCTID:849000|ICD9:366.17|DOID:13717 May be ceded to HPO. Note current classification may be incorrect owl:Class MONDO:0011188 biolink:NamedThing arrhythmogenic right ventricular dysplasia 3 An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. tmpaxzxjjyw_mondo_relaxed.owl arrhythmogenic right ventricular cardiomyopathy 3|ARVC3|arrhythmogenic right ventricular dysplasia, familial, 3|ARVD3|familial arrhythmogenic right ventricular dysplasia 3|arrhythmogenic right ventricular dysplasia type 3 ICD10:I42.8|MESH:C566584|UMLS:C1865882|Orphanet:217656|OMIM:602086|DOID:0110072 owl:Class MONDO:0018209 biolink:NamedThing Alexander disease type I Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. tmpaxzxjjyw_mondo_relaxed.owl AxD type I OMIM:203450|Orphanet:363717|ICD10:E75.2|UMLS:CN204729 owl:Class MONDO:0007777 biolink:NamedThing hypertaurinuric cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl hypertaurinuric cardiomyopathy OMIM:145350|UMLS:C1840385|MESH:C564157 owl:Class MONDO:0007364 biolink:NamedThing arthrogryposis, distal, type 2E tmpaxzxjjyw_mondo_relaxed.owl contractures of fingers and jaw|arthrogryposis, distal, type 2E MESH:C535384|UMLS:C1852597|OMIM:121070 owl:Class MONDO:0009972 biolink:NamedThing respiratory underresponsiveness to hypoxia and hypercapnia tmpaxzxjjyw_mondo_relaxed.owl respiratory underresponsiveness to hypoxia and hypercapnia OMIM:267480|MESH:C564848 owl:Class MONDO:0017177 biolink:NamedThing hemihyperplasia-multiple lipomatosis syndrome Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated. tmpaxzxjjyw_mondo_relaxed.owl HHML ICD10:Q87.3|UMLS:CN202613|Orphanet:276280 owl:Class HGNC:7461 biolink:NamedThing MT-ND5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:72041 biolink:NamedThing Eumalacostraca tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0024639 biolink:NamedThing gastric enterochromaffin cell serotonin-producing neuroendocrine tumor A well differentiated neuroendocrine tumor that arises from the stomach. It produces serotonin and it may occasionally be found in association with a carcinoid syndrome. tmpaxzxjjyw_mondo_relaxed.owl gastric EC-cell serotonin-producing neuroendocrine tumor|gastric EC cell serotonin-producing NET|gastric enterochromaffin cell serotonin-producing neuroendocrine tumor UMLS:C3274137|NCIT:C27443 owl:Class MONDO:0008844 biolink:NamedThing Athrombia, essential tmpaxzxjjyw_mondo_relaxed.owl Athrombia, essential UMLS:C1859595|OMIM:209050|MESH:C565927 owl:Class NCBITaxon:266068 biolink:NamedThing Rickettsia sibirica subgroup tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0030922 biolink:NamedThing intellectual disability, autosomal dominant 56 tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant mental retardation 56|mental retardation, autosomal dominant 56|autosomal dominant intellectual disability 56|MRD56|intellectual disability, autosomal dominant 56 Orphanet:178469|OMIM:617854|UMLS:CN787270|DOID:0080226 owl:Class MONDO:0003108 biolink:NamedThing cervicomedullary junction neoplasm tmpaxzxjjyw_mondo_relaxed.owl cervicomedullary junction tumor|neoplasm of cervicomedullary junction|cervicomedullary junction neoplasms|tumor of cervicomedullary junction|neoplasm of the cervicomedullary junction|tumor of the cervicomedullary junction NCIT:C5423|UMLS:C1332923|DOID:4707 owl:Class MONDO:0001885 biolink:NamedThing lateral cystocele tmpaxzxjjyw_mondo_relaxed.owl ICD10:N81.12|SCTID:441891001|ICD9:618.02|UMLS:C2711750|DOID:14130 owl:Class NCIT:C16273 biolink:NamedThing Alcohol Consumption Consumption of liquids containing ethanol, including the behaviors associated with drinking the alcohol. tmpaxzxjjyw_mondo_relaxed.owl Alcohol Consumption owl:Class MONDO:0014423 biolink:NamedThing severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation. tmpaxzxjjyw_mondo_relaxed.owl IMD26|immunodeficiency 26 with or without neurologic abnormalities|SCID due to DNA-PKcs deficiency SCTID:716871006|UMLS:C4014833|OMIM:615966|Orphanet:317425|ICD10:D81.1 owl:Class HP:0012115 biolink:NamedThing Hepatitis Inflammation of the liver. tmpaxzxjjyw_mondo_relaxed.owl Liver inflammation UMLS:C0019158|SNOMEDCT_US:128241005|MSH:D006505 hecht 2012-09-16T05:03:29Z human_phenotype owl:Class MONDO:0011992 biolink:NamedThing hereditary spastic paraplegia 25 Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia 25, autosomal recessive|autosomal recessive spastic paraplegia 25|autosomal recessive spastic paraplegia type 25|hereditary spastic paraplegia type 25|Disc herniation with spastic paraplegia, autosomal recessive|SPG25|spastic paraplegia 25|autosomal recessive spastic paraplegia-disc herniation syndrome|spinal disc herniation with autosomal recessive spastic paraplegia OMIM:608220|Orphanet:101005|ICD10:G11.4|UMLS:C2936860|DOID:0110776|MESH:C536861|SCTID:732933009|GARD:0009582|UMLS:C4518003 owl:Class MONDO:0054782 biolink:NamedThing leukodystrophy, hypomyelinating, 15 tmpaxzxjjyw_mondo_relaxed.owl leukodystrophy, hypomyelinating, 15|HLD15 OMIM:617951|UMLS:CN244566 owl:Class MONDO:0018382 biolink:NamedThing epiphysiolysis of the hip Epiphysiolysis of the hip is a rare osteonecrosis disorder characterized by unilateral or bilateral disruption of the capital femoral physis with varying degrees of posterior epiphysis translation and simultaneous anterior metaphysis displacement. Patients typically present in pre-adolescence/adolescence with pain of variable intensity in varying locations (hip, groin, thigh, knee). tmpaxzxjjyw_mondo_relaxed.owl SufE|femoral head epiphysiolysis|epiphysiolysis of the upper femur|slipped capital femoral epiphysis|slipped upper femoral epiphysis|SCFE EFO:1001317|Orphanet:399329|SCTID:26460006|ICD10:M93.9 owl:Class PO:0006079 biolink:NamedThing shoot system meristem A portion of meristem tissue (PO:0009013) that is part of a shoot system (PO:0009006). tmpaxzxjjyw_mondo_relaxed.owl meristema del epiblasto (epiblastema) (Spanish, exact)|シュート分裂組織 (Japanese, exact) PO_GIT:472|PO_GIT:583 plant_anatomy owl:Class MONDO:0015741 biolink:NamedThing distal trisomy 18q tmpaxzxjjyw_mondo_relaxed.owl trisomy 18qter|distal trisomy type 18q|telomeric duplication 18q|distal duplication 18q Orphanet:1716|ICD10:Q92.3 owl:Class MONDO:0001956 biolink:NamedThing capillary leak syndrome A syndrome characterized by leakage of intravascular fluids into the extravascular space. This syndrome is observed in patients who demonstrate a state of generalized leaky capillaries following shock syndromes, low-flow states, ischemia-reperfusion injuries, toxemias, medications, or poisoning. It can lead to generalized edema and multiple organ failure. tmpaxzxjjyw_mondo_relaxed.owl acute vascular leak syndrome|capillary leak syndrome with monoclonal gammopathy|Clarkson disease|capillary leak syndrome|capillary hyperpermeability syndrome|CLS|systemic capillary leak syndrome|AVLS|SCLS|periodic systemic capillary leak syndrome|idiopathic capillary leak syndrome UMLS:C0343084|Orphanet:188|GARD:0001084|SCTID:87730004|MESH:D019559|ICD9:448.9|NCIT:C62578|ICD10:I78.8|DOID:14400|MedDRA:10007196 owl:Class UBERON:0004250 biolink:NamedThing upper arm bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018018 biolink:NamedThing wild type ATTR amyloidosis tmpaxzxjjyw_mondo_relaxed.owl SSA|ATTRwt amyloidosis|Senile systemic amyloidosis|ATTRwt-related amyloidosis|wild type ATTR-related amyloidosis UMLS:C0342623|ICD10:E85.8|UMLS:CN204235|ICD9:277.39|SCTID:237877004|Orphanet:330001 owl:Class NCBITaxon:149546 biolink:NamedThing Histoplasma capsulatum var. duboisii tmpaxzxjjyw_mondo_relaxed.owl Histoplasma duboisii GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012567 biolink:NamedThing autism, susceptibility to, 12 tmpaxzxjjyw_mondo_relaxed.owl autism, susceptibility to, 12|AUTS12 OMIM:610838 owl:Class MONDO:0003590 biolink:NamedThing fibroblastic liposarcoma A liposarcoma characterized by the presence of a fibroblastic component. tmpaxzxjjyw_mondo_relaxed.owl fibroblastic liposarcoma|fibroblastic liposarcoma (morphologic abnormality) NCIT:C6509|UMLS:C1266130|ICDO:8857/3|DOID:5698 owl:Class MONDO:0017808 biolink:NamedThing duplication of the pituitary gland tmpaxzxjjyw_mondo_relaxed.owl Duplication of the pituitary gland-plus syndrome|DPG-plus syndrome|hypophyseal duplication UMLS:CN203774|ICD10:Q89.2|Orphanet:314621 owl:Class UBERON:0012102 biolink:NamedThing buccal salivary gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:66225 biolink:NamedThing Phaeoannellomyces tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0015051 biolink:NamedThing tubular duplication of the esophagus Tubular duplication of the esophagous is a rare congenital malformation where a second structure with individual lumen and stratified squamous mucosa and muscularis mucosa lies within or adjacent to the true esophagus causing dysphagia, nausea, vomiting, retrosternal pain and respiratory problems (stridor and recurrent pneumonia) and usually presenting in children. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q39.8|Orphanet:100048 owl:Class MONDO:0019619 biolink:NamedThing duplication of the esophagus tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q39.8|Orphanet:91357 owl:Class MONDO:0019514 biolink:NamedThing hepatic veno-occlusive disease Hepatic veno-occlusive disease (hepatic VOD) is a condition resulting from toxic injury to the hepatic sinusoidal capillaries that leads to obstruction of the small hepatic veins. tmpaxzxjjyw_mondo_relaxed.owl liver veno-occlusive disease|veno-occlusive disease|sinusoidal obstruction syndrome|hepatic Vod Orphanet:890|NCIT:C26793|UMLS:C0019156|ICD10:K76.5|ICD9:453.89|GARD:0013004|SCTID:65617004|MedDRA:10047216|MESH:D006504|DOID:0080177 https://rarediseases.info.nih.gov/diseases/13004/hepatic-veno-occlusive-disease owl:Class MONDO:0011078 biolink:NamedThing anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis tmpaxzxjjyw_mondo_relaxed.owl Jung Wolff back Stahl syndrome|anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis OMIM:601427|GARD:0003062|UMLS:C1832362|MESH:C537694 owl:Class MONDO:0007583 biolink:NamedThing exostoses of heel tmpaxzxjjyw_mondo_relaxed.owl exostoses of heel MESH:C563167|UMLS:C0877431|OMIM:133600 Editor note: consider obsoleting owl:Class MONDO:0007449 biolink:NamedThing dermo-odonto dysplasia Dermo-odonto dysplasia belongs to the group of tricho-odonto-onychial dysplasias. It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. Autosomal dominant transmission is likely. tmpaxzxjjyw_mondo_relaxed.owl dermoodonto dysplasia|ectodermal dysplasia, hair-nail-Tooth type|DERMOODONTODYSPLASIA|dermo-odonto dysplasia|dermo odontodysplasia|dermo-odonto-dysplasia GARD:0001816|SCTID:721091003|MESH:C565103|ICD10:Q82.4|Orphanet:1660|OMIM:125640|UMLS:C1852144|UMLS:C4303591 owl:Class MONDO:0054729 biolink:NamedThing spermatogenic failure 25 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 25|SPGF25 OMIM:617960 owl:Class MONDO:0004118 biolink:NamedThing cystitis cystica A reactive inflammatory disorder affecting the bladder. It is characterized by the development of small cysts in the bladder wall. The cysts are lined by urothelial cells. tmpaxzxjjyw_mondo_relaxed.owl ICD9:595.81|SCTID:13285005|UMLS:C0152262|NCIT:C96230|DOID:7138 owl:Class HGNC:5382 biolink:NamedThing IDH1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006808 biolink:NamedThing intracranial arterial disease Pathological conditions involving arteries in the skull, such as arteries supplying the cerebrum, the cerebellum, the brain stem, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes. tmpaxzxjjyw_mondo_relaxed.owl MESH:D020765|DOID:13089|UMLS:C0752138|EFO:1000990 owl:Class HGNC:7193 biolink:NamedThing MOCS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:32066 biolink:NamedThing Fusobacteria tmpaxzxjjyw_mondo_relaxed.owl Fusobacteriota|Fusobacteraeota|fusobacteria PMID:29458499|PMID:24969840|GC_ID:11|PMID:26654112 ncbi_taxonomy owl:Class MONDO:0001723 biolink:NamedThing progressive peripheral pterygium tmpaxzxjjyw_mondo_relaxed.owl DOID:13474|UMLS:C0155155|ICD9:372.42|SCTID:193881001 owl:Class MONDO:0019473 biolink:NamedThing enteropathy-associated T-cell lymphoma An uncommon mature T-cell lymphoma of intraepithelial lymphocytes. It usually arises from the small intestine, most commonly the jejunum or ileum. Other less frequent primary anatomic sites include the duodenum, stomach, colon, or outside the gastrointestinal tract. It is seen with increased frequency in regions with a high prevalence of celiac disease. tmpaxzxjjyw_mondo_relaxed.owl enteropathy-associated T-cell lymphoma, type I|enteropathy-type T-cell lymphoma|EATL, type I|ETTL|EATL|enteropathy associated T-cell lymphoma|intestinal T-cell lymphoma|high-grade pleomorphic peripheral T-cell lymphoma|EATCL GARD:0009809|ICD9:202.70|MedDRA:10022703|UMLS:C0456889|MESH:D058527|ICD10:C86.2|NCIT:C4737|SCTID:277654008|ICDO:9717/3|ONCOTREE:EATL|Orphanet:86880 Editor note: consider moving ORDO class to SI subclass https://rarediseases.info.nih.gov/diseases/9809/enteropathy-associated-t-cell-lymphoma owl:Class MONDO:0017192 biolink:NamedThing sporadic secreting paraganglioma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:276627|ICD10:D44.7|UMLS:CN202632|ICD10:C75.5 owl:Class HGNC:13902 biolink:NamedThing SERPINB7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0002532 biolink:NamedThing epiblast (generic) tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013108 biolink:NamedThing leukemia, acute lymphocytic, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl leukemia, acute lymphocytic, susceptibility to, 1|ALL|leukemia, B-cell acute lymphoblastic, susceptibility to|All1|leukemia, acute lymphoblastic|leukemia, acute lymphoblastic, susceptibility to, 1|leukemia, acute lymphoblastic, B-Hyperdiploid, susceptibility to|leukemia, T-cell acute lymphoblastic, susceptibility to UMLS:C2751595|Orphanet:513|OMIM:613065 owl:Class MONDO:0016731 biolink:NamedThing desmoplastic infantile astrocytoma/ganglioglioma Desmoplastic infantile astrocytoma/ganglioglioma are mixed neuronal-glial tumors representing a histological spectrum of the same tumor. They are usually supratentorially located, large, cystic masses with a peripheral solid component, characterized by prominent desmoplastic stroma and pleomorphic populations of neoplastic cells with either astrocytic or ganglionic differentiation and poorly differentiated cells in variable proportions. They usually present in the first 18 months of age with rapid head growth, bulging anterior fontanel and bone structures over the tumor, signs of raised intracranial pressure (headache, vomiting, papilledema), focal neurological signs and sometimes seizures. tmpaxzxjjyw_mondo_relaxed.owl DIA/DIG Orphanet:251940|UMLS:CN201979 owl:Class MONDO:0001722 biolink:NamedThing central pterygium tmpaxzxjjyw_mondo_relaxed.owl SCTID:43300008|ICD9:372.43|UMLS:C0155156|DOID:13473 owl:Class MONDO:0030967 biolink:NamedThing deafness, congenital, and adult-onset progressive leukoencephalopathy tmpaxzxjjyw_mondo_relaxed.owl DEAPLE OMIM:619196 owl:Class MONDO:0008576 biolink:NamedThing toe, fifth, number of phalanges 1N tmpaxzxjjyw_mondo_relaxed.owl toe, fifth, number of phalanges type 1N|toe, fifth, number of phalanges IN OMIM:189000 owl:Class MONDO:0018815 biolink:NamedThing aneurysmal bone cyst A locally aggressive and destructive benign cystic lesion of the bone. It is characterized by the formation of multiloculated hemorrhagic cystic spaces which are separated by fibrous septa. It can arise from any bone, but usually affects the metaphysis of long bones. It manifests with pain and swelling and may recur following curettage. tmpaxzxjjyw_mondo_relaxed.owl aneurysmal cyst of the bone|ABC|aneurysmal bone cyst|aneurysmal bone cysts|aneurysmal bone cyst (disease)|aneurysmal cyst of bone aneurysmal bone cyst (disease) NCIT:C3516|ICD9:733.22|SCTID:203468000|OMIM:606179|GARD:0008646|HP:0012063|Orphanet:480553 https://rarediseases.info.nih.gov/diseases/8646/aneurysmal-bone-cysts owl:Class MONDO:0015299 biolink:NamedThing Asherman syndrome tmpaxzxjjyw_mondo_relaxed.owl uterine synechiae|Asherman's syndrome|intrauterine adhesions|intrauterine synechiae|Asherman syndrome MedDRA:10022821|UMLS:C0156372|MedDRA:10053868|GARD:0005853|ICD10:N85.6|SCTID:48236007|Orphanet:137686 owl:Class MONDO:0009890 biolink:NamedThing Gillessen-Kaesbach-Nishimura syndrome tmpaxzxjjyw_mondo_relaxed.owl polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia|polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia|GIKANIS|Gillessen-Kaesbach-Nishimura syndrome UMLS:C1849762|Orphanet:79328|MESH:C564881|OMIM:263210 owl:Class MONDO:0006631 biolink:NamedThing osteoarthritis, toe Osteoarthritis of the foot generally affects the joint at the base of your big toe. It can cause your toe to: - become stiff over time, which can make it difficult and painful to walk – this is called hallux rigidus - become bent, which can lead to painful bunions (bony lumps at the base of your big toe) – this is called hallux valgus. Osteoarthritis of the mid-foot is also quite common, especially in older people, and may cause an obvious bony swelling (osteophyte) on the top of your mid-foot. Ankle osteoarthritis is least common and may cause your heel to move to an unusual angle. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000788 owl:Class IAO:8000013 biolink:NamedThing reasoned ontology module An ontology module that contains axioms generated by a reasoner. The generated axioms are typically direct SubClassOf axioms, but other possibilities are available. tmpaxzxjjyw_mondo_relaxed.owl reasoned ontology module owl:Class MONDO:0044302 biolink:NamedThing congenital heart defects, dysmorphic facial features, and intellectual developmental disorder tmpaxzxjjyw_mondo_relaxed.owl CHDFIDD|congenital heart defects, dysmorphic FACIAL features, and intellectual developmental disorder UMLS:C4479246|OMIM:617360 owl:Class MONDO:0018476 biolink:NamedThing dystonia-aphonia syndrome tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237465|Orphanet:412217|ICD10:G24.8 owl:Class MONDO:0001050 biolink:NamedThing malignant otitis externa An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. tmpaxzxjjyw_mondo_relaxed.owl ICD9:380.14|DOID:10516|ICD10:H60.2|ICD10:H60.20|SCTID:94146005|UMLS:C0155395 owl:Class MONDO:0015195 biolink:NamedThing atresia of urethra Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development. tmpaxzxjjyw_mondo_relaxed.owl urethral atresia|atresia of urethra (disease)|atresia of urethra atresia of urethra (disease) ICD10:Q64.3|SCTID:253902002|MedDRA:10064895|HP:0000068|Orphanet:105 owl:Class MONDO:0011535 biolink:NamedThing split hand-foot malformation 4 Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene. tmpaxzxjjyw_mondo_relaxed.owl SHFM4|split-hand/foot malformation 4|split-hand/foot malformation type 4|TP63 split hand-foot malformation|split hand-foot malformation type 4|split hand-foot malformation caused by mutation in TP63 UMLS:C0265554|OMIM:605289|ICD10:Q71.6|DOID:0090023|MESH:C565344|Orphanet:2440 owl:Class MONDO:0010128 biolink:NamedThing thyrocerebrorenal syndrome Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl Thyrocerebral-retinal syndrome|THYROCEREBRORETINAL syndrome|cutler-Bass-Romshe syndrome OMIM:274240|UMLS:C1848813|UMLS:C4518579|GARD:0005203|Orphanet:3327|SCTID:733096007|MESH:C536908 owl:Class MONDO:0013300 biolink:NamedThing commissural facial cleft Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl macrostomia|commissural cleft, isolated|lateral cleft, isolated|macrostomia, isolated|transverse cleft, isolated MESH:D008265|SCTID:40159009|Orphanet:141276|ICD9:744.83|ICD10:Q18.4|OMIM:613545 owl:Class MONDO:0010573 biolink:NamedThing cutis verticis gyrata, thyroid aplasia, and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl Akesson syndrome|cutis verticis gyrata, thyroid aplasia, and mental retardation|cutis verticis gyrata, thyroaplasia and mental deficiency syndrome|cutis verticis gyrata, thyroid aplasia, and intellectual disability|cutis verticis gyrata-thyroid aplasia-mental retardation syndrome|cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome UMLS:CN237776|MESH:C535610|Orphanet:79482|OMIM:304200|GARD:0000578 owl:Class GO:0004415 biolink:NamedThing hyalurononglucosaminidase activity Catalysis of the random hydrolysis of (1->4) linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate. tmpaxzxjjyw_mondo_relaxed.owl hyaluronoglucosidase activity|chondroitinase activity|hyaluronate 4-glycanohydrolase activity|hyaluronoglucosaminidase activity|hyaluronidase activity|chondroitinase I activity owl:Class MONDO:0023041 biolink:NamedThing ectodermal dysplasia Berlin type tmpaxzxjjyw_mondo_relaxed.owl GARD:0002044 https://rarediseases.info.nih.gov/diseases/2044/ectodermal-dysplasia-berlin-type owl:Class MONDO:0019476 biolink:NamedThing primary cutaneous peripheral T-cell lymphoma not otherwise specified tmpaxzxjjyw_mondo_relaxed.owl primary cutaneous unspecified peripheral T-cell lymphoma MedDRA:10034623|Orphanet:86885|ICD10:C84.4 owl:Class MONDO:0001564 biolink:NamedThing binocular vision disease Any inability to efficiently utilize and/or sustain binocular vision. tmpaxzxjjyw_mondo_relaxed.owl simultaneous visual perception without fusion|binocular vision disorder SCTID:83275001|DOID:12667|NCIT:C34422|ICD10:H53.30|ICD9:368.30 owl:Class MONDO:0003557 biolink:NamedThing optic nerve sheath meningioma A meningioma that affects the sheath of the optic nerve. tmpaxzxjjyw_mondo_relaxed.owl meningioma of the optic nerve sheath|meningioma of optic nerve sheath|optic nerve sheath meningioma NCIT:C4538|SCTID:254978007|ICD9:237.9|DOID:5632|UMLS:C0346328 Editor note: TODO axiomatize owl:Class NCBITaxon:118882 biolink:NamedThing Brucellaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0002509 biolink:NamedThing non-specific granulomatous orchitis Granulomatous inflammation of the testis. It is characterized by the formation of granulomas around the seminiferous tubules. History of trauma may be present. It is assumed to be a reactive process due to autoimmune phenomena. tmpaxzxjjyw_mondo_relaxed.owl granulomatous orchitis UMLS:C0436545|NCIT:C27162|SCTID:50390006|DOID:3089 owl:Class CHEBI:33890 biolink:NamedThing cobalt coordination entity tmpaxzxjjyw_mondo_relaxed.owl cobalt coordination compounds|cobalt coordination entities|cobalt coordination entity owl:Class GO:0007036 biolink:NamedThing vacuolar calcium ion homeostasis Any process involved in the maintenance of an internal steady state of calcium ions in the vacuole or between a vacuole and its surroundings. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0032987 biolink:NamedThing protein-lipid complex disassembly The disaggregation of a protein-lipid complex into its constituent components. tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042101 biolink:NamedThing T cell receptor complex A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. tmpaxzxjjyw_mondo_relaxed.owl T lymphocyte receptor complex|T-lymphocyte receptor complex|TCR|TCR complex|T-cell receptor complex owl:Class MONDO:0015336 biolink:NamedThing malformation syndrome with odontal and/or periodontal component tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:139042|UMLS:CN199366 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: developmental defect during embryogenesis' MONDO_0019755 owl:Class MONDO:0004288 biolink:NamedThing scirrhous breast carcinoma An infiltrating ductal breast carcinoma associated with stromal fibrosis. tmpaxzxjjyw_mondo_relaxed.owl scirrhous carcinoma of breast|infiltrating carcinoma of the breast with fibrotic Stroma|breast scirrhous carcinoma|scirrhous breast carcinoma|infiltrating carcinoma of breast with fibrotic Stroma|scirrhous carcinoma of the breast ICDO:8514/3|DOID:7578|UMLS:C0346151|SCTID:254839007|NCIT:C7362 owl:Class MONDO:0016305 biolink:NamedThing atypical pantothenate kinase-associated neurodegeneration tmpaxzxjjyw_mondo_relaxed.owl PKAN, atypical form|NBIA1, atypical form|neurodegeneration with brain iron accumulation type 1, atypical form UMLS:CN201110|ICD10:G23.0|Orphanet:216873 owl:Class MONDO:0032848 biolink:NamedThing immunodeficiency 65, susceptibility to viral infections tmpaxzxjjyw_mondo_relaxed.owl IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS|IMD65 OMIM:618648 owl:Class NCBITaxon:8030 biolink:NamedThing Salmo salar tmpaxzxjjyw_mondo_relaxed.owl Atlantic salmon GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100128 biolink:NamedThing coinfection The simultaneous infection of a host by multiple pathogen species. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0275524 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0011863 biolink:NamedThing prostate cancer aggressiveness quantitative trait locus on chromosome 19 tmpaxzxjjyw_mondo_relaxed.owl prostate cancer aggressiveness quantitative trait locus on chromosome 19|HPCqtl19|prostate cancer aggressiveness quantitative trait locus on chromosome type 19 OMIM:607592 owl:Class MONDO:0022456 biolink:NamedThing ankle defects short stature tmpaxzxjjyw_mondo_relaxed.owl GARD:0000694 https://rarediseases.info.nih.gov/diseases/694/ankle-defects-short-stature owl:Class MONDO:0004274 biolink:NamedThing mixed epithelial/mesenchymal metaplastic breast carcinoma An invasive breast carcinoma characterized by the presence of a mesenchymal cellular component. The mesenchymal cellular component ranges from cartilaginous and osseous, to purely sarcomatous. tmpaxzxjjyw_mondo_relaxed.owl mixed type metaplastic breast cancer|breast carcinosarcoma ONCOTREE:MMBC|NCIT:C40364|DOID:7541|UMLS:C1513365 owl:Class MONDO:0100023 biolink:NamedThing self-limited familial and non-familial neonatal seizures A neonatal/infantile epilepsy sndrome that is characterized by the onset of seizures that start in the in the neonate between day 4 and 7 of life and are often unilateral clonic events that recur and may alternate sides from seizure to seizure. Seizures can be repetitive over hours to days. Seizures remit by 4-6 months of age. A proportion of those affected may have seizures in later life. The child is expected to have normal developmental progress. tmpaxzxjjyw_mondo_relaxed.owl self-limited familial neonatal-infantile epilepsy 2018-06-22 23:38:16+00:00 Some cases have seizure onset just outside of the neonatal period (in the first 2 months of life), and the syndrome in this case is called self-limited familial neonatal-infantile epilepsy. owl:Class MONDO:0012713 biolink:NamedThing spondylometaphyseal dysplasia, East African type tmpaxzxjjyw_mondo_relaxed.owl spondylometaphyseal dysplasia, East African type|spondylometaphyseal dysplasia East-African type UMLS:C2673686|MESH:C535796|OMIM:611702|GARD:0004992 https://rarediseases.info.nih.gov/diseases/4992/spondylometaphyseal-dysplasia-east-african-type owl:Class MONDO:0005182 biolink:NamedThing serous cystadenofibroma A benign neoplasm characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma. Most commonly the primary site is the ovary, but serous cystadenofibromas can occur in the pancreas as well. tmpaxzxjjyw_mondo_relaxed.owl EFO:0002510|DOID:7320 owl:Class NCBITaxon:41197 biolink:NamedThing Heteroneura tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:37583 ncbi_taxonomy owl:Class NCBITaxon:41196 biolink:NamedThing Neolepidoptera tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0054836 biolink:NamedThing parkinsonism-dystonia, infantile, 2 tmpaxzxjjyw_mondo_relaxed.owl Parkinsonism-dystonia, infantile, 2|PKDYS2 UMLS:CN248785|OMIM:618049 owl:Class MONDO:0100051 biolink:NamedThing idiopathic mast cell activation syndrome Mast cell activation syndrome where neither an allergy or other underlying disease is association, nor KIT-mutated mast cells are detectable. tmpaxzxjjyw_mondo_relaxed.owl idiopathic MACS 2018-07-17 21:46:53+00:00 owl:Class MONDO:0004060 biolink:NamedThing peripheral epithelioid sarcoma An epithelioid sarcoma involving the extremities. It usually presents as nodular masses in the dermis and subcutaneous tissues or in the tendons and fascia. It frequently recurs and metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, lymph nodes, bones, and brain. tmpaxzxjjyw_mondo_relaxed.owl conventional epithelioid sarcoma|distal-type epithelioid sarcoma UMLS:C1333306|DOID:6988|NCIT:C27473 owl:Class MONDO:0019415 biolink:NamedThing fetal and neonatal alloimmune thrombocytopenia Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a blood disorder that affects pregnant women and their babies. NAIT was first reported in the literature in 1953 and is estimated to occur in as many as 1 in 1200 live births. NAIT results in the destruction of platelets in the fetus or infant due to a mismatch between the mother's platelets and those of the baby. Certain molecules (antigens) on the surface of the baby's platelets are recognized as foreign by the mother's immune system. The mother's immune system then creates antibodies that attack and destroy the baby's platelets. Though NAIT can occur whenever the mother's blood mixes with that of the baby, it is usually triggered when the mother is exposed to the baby's blood during delivery. Many cases of NAIT are mild. Signs and symptoms may include a low platelet count (thrombocytopenia) and signs of bleeding into the skin such as petechiae and purpura. In the most severe cases, NAIT can cause bleeding episodes that may result in death or long-term disability. Bleeding episodes can occur either during pregnancy or after birth. Management of the infant with neonatal alloimmune thrombocytopenia may include platelet transfusions, ultrasounds, and intravenous immunoglobulin (IVIG). Treatment for pregnant mothers at risk for NAIT may include IVIG and steroids. tmpaxzxjjyw_mondo_relaxed.owl NAIT SCTID:240305000|GARD:0002295|Orphanet:853|ICD10:P61.0 https://rarediseases.info.nih.gov/diseases/2295/fetal-and-neonatal-alloimmune-thrombocytopenia owl:Class NCBITaxon:1980467 biolink:NamedThing Dobrava-Belgrade orthohantavirus tmpaxzxjjyw_mondo_relaxed.owl Dobrava virus|Dobravavirus|Dobrava-Belgrade virus|Dobrava-Belgrade hantavirus GC_ID:1 NCBITaxon:12506 ncbi_taxonomy owl:Class MONDO:0012346 biolink:NamedThing generalized epilepsy with febrile seizures plus, type 4 tmpaxzxjjyw_mondo_relaxed.owl Gefs+, type 4|generalized epilepsy with febrile seizures plus, type 4|GEFSP4 OMIM:609800|UMLS:C1853345|MESH:C565227|Orphanet:36387|DOID:0111293 owl:Class MONDO:0005987 biolink:NamedThing toxascariasis Infections with nematodes of the genus toxascaris. tmpaxzxjjyw_mondo_relaxed.owl Toxascaris disease or disorder|Toxascaris infectious disease|Toxascaris caused disease or disorder MESH:D017227|UMLS:C0040522|EFO:0007515|DOID:3107 owl:Class MONDO:0018164 biolink:NamedThing arterial thoracic outlet syndrome Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS) that presents as unilateral upper extremity ischemia. tmpaxzxjjyw_mondo_relaxed.owl arterial scalenus anticus syndrome|arterial TOS|ATOS|arterial thoracic outlet compression syndrome|arterial costoclavicular syndrome|arterial hyperabduction syndrome|arterial cervical rib syndrome UMLS:C1956395|ICD10:G54.0|Orphanet:357107|SCTID:8051000119105 owl:Class MONDO:0032803 biolink:NamedThing immunodeficiency 64 tmpaxzxjjyw_mondo_relaxed.owl IMD64|IMMUNODEFICIENCY 64 OMIM:618534 owl:Class MONDO:0017504 biolink:NamedThing apodia, unilateral tmpaxzxjjyw_mondo_relaxed.owl congenital absence of foot, unilateral Orphanet:295105|ICD10:Q72.3 owl:Class HGNC:10004 biolink:NamedThing RGS9 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032669 biolink:NamedThing Diamond-Blackfan anemia 19 tmpaxzxjjyw_mondo_relaxed.owl DIAMOND-BLACKFAN ANEMIA 19|DBA19 OMIM:618312 owl:Class MONDO:0016644 biolink:NamedThing logopenic progressive aphasia Logopenic progressive aphasia (lv-PPA) is a form of primary progressive aphasia (PPA), characterized by impaired single-word retrieval and naming and impaired repetition with spared single-word comprehension and object knowledge. tmpaxzxjjyw_mondo_relaxed.owl LPA|Logopenic variant PPA|Logopenic primary progressive aphasia Orphanet:250831|SCTID:716380002|ICD10:G31.0|GARD:0010791|UMLS:C4049711 https://rarediseases.info.nih.gov/diseases/10791/logopenic-progressive-aphasia owl:Class MONDO:0009209 biolink:NamedThing autosomal recessive faciodigitogenital syndrome Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum. tmpaxzxjjyw_mondo_relaxed.owl faciodigitogenital syndrome, autosomal recessive|Aarskog-like syndrome|Teebi-Naguib-Alawadi syndrome|facio-digito-genital syndrome, Kuwait type|Kuwait type faciodigitogenital syndrome Orphanet:1974|OMIM:227330|ICD10:Q87.8 owl:Class MONDO:0007544 biolink:NamedThing eosinophilia, familial Familial occurrence, with more than one generation being affected, of persistent eosinophilia, an increase in the number of eosinophils in the blood, in the absence of known causal factors. tmpaxzxjjyw_mondo_relaxed.owl familial eosinophilia|eosinophilia, familial|Eos OMIM:131400|SCTID:79336007|GARD:0010521|MESH:C562722 https://rarediseases.info.nih.gov/diseases/10521/familial-eosinophilia owl:Class MONDO:0001361 biolink:NamedThing spontaneous ocular nystagmus Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272) tmpaxzxjjyw_mondo_relaxed.owl ocular nystagmus|searching eye movements|visual deprivation nystagmus ICD10:H55.03|MESH:D009759|SCTID:45339001|UMLS:C0271384|ICD9:379.53|DOID:11771 owl:Class MONDO:0003892 biolink:NamedThing acinar lung adenocarcinoma A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05) tmpaxzxjjyw_mondo_relaxed.owl acinar adenocarcinoma of the lung|acinar lung adenocarcinoma|lung acinar adenocarcinoma|acinar adenocarcinoma of lung UMLS:C1332137|DOID:6482|NCIT:C5649 owl:Class MONDO:0008141 biolink:NamedThing ossicular malformations, familial tmpaxzxjjyw_mondo_relaxed.owl ossicular malformations, familial|familial middle ear ossicular anomalies|familial ossicular malformations OMIM:165680|MESH:C537142|UMLS:C1833790|GARD:0008184 https://rarediseases.info.nih.gov/diseases/8184/ossicular-malformations-familial owl:Class MONDO:0005410 biolink:NamedThing acute graft vs. host disease Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft. tmpaxzxjjyw_mondo_relaxed.owl EFO:0004599 Editor note: consider merging with parent owl:Class MONDO:0012995 biolink:NamedThing myopia 15, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl MYP15|myopia 15, autosomal dominant UMLS:C2675180|MESH:C567193|OMIM:612717 owl:Class MONDO:0040501 biolink:NamedThing ehlers-danlos syndrome, arthrochalasia type, 2 tmpaxzxjjyw_mondo_relaxed.owl Ehlers-Danlos syndrome, arthrochalasia type, 2|Ehlers-Danlos syndrome, type VIIb, Autosomal dominant|EDSARTH2|EDS 7B|EDS VIIB OMIM:617821 owl:Class UBERON:0005460 biolink:NamedThing left vitelline vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009828 biolink:NamedThing palant cleft palate syndrome tmpaxzxjjyw_mondo_relaxed.owl Palant cleft palate syndrome|unusual facies, cleft palate, intellectual disability, and limb abnormalities|unusual facies, cleft palate, mental retardation, and limb abnormalities MESH:C538102|GARD:0004198|OMIM:260150|UMLS:C1850102 https://rarediseases.info.nih.gov/diseases/4198/palant-cleft-palate-syndrome owl:Class MONDO:0017557 biolink:NamedThing Madelung deformity, bilateral tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q74.0|Orphanet:295223 owl:Class MONDO:0017571 biolink:NamedThing Proteus-like syndrome Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. tmpaxzxjjyw_mondo_relaxed.owl Cohen-Hayden syndrome|Proteus like syndrome mental retardation eye defect|Proteus like syndrome intellectual disability eye defect SCTID:716862002|OMIM:158350|ICD10:Q87.3|Orphanet:2969|GARD:0004525|GARD:0012801 owl:Class MONDO:0018587 biolink:NamedThing non-recovering obstetric brachial plexus lesion tmpaxzxjjyw_mondo_relaxed.owl non-recovering OBPL|non-recovering OBPI|chronic obstetric brachial plexus injury|chronic obstetric brachial plexus palsy ICD10:P14.3|UMLS:CN237616|Orphanet:439202 owl:Class MONDO:0001761 biolink:NamedThing favism A condition associated with glucose-6-phosphate dehydrogenase deficiency, which is characterized by hemolysis. tmpaxzxjjyw_mondo_relaxed.owl ICD10:D55.0|DOID:13628|UMLS:C0015702|SCTID:191172001|MESH:D005236|NCIT:C34607 owl:Class MONDO:0004568 biolink:NamedThing paralytic ileus An ileus caused by abdominal or pelvic surgery, infections, disorders that affect the muscles and nerves, and medications. Signs and symptoms include those of intestinal obstruction. tmpaxzxjjyw_mondo_relaxed.owl paralytic ileus (disease)|paralytic ileus paralytic ileus (disease) MESH:D007418|SCTID:55525008|NCIT:C93045|HP:0002590|ICD9:560.1|DOID:8442|ICD10:K56.0|UMLS:C0030446 owl:Class MONDO:0013629 biolink:NamedThing intellectual disability, autosomal recessive 16 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal recessive 16|mental retardation, autosomal recessive 16|MRT16 OMIM:614208|UMLS:C3280154 owl:Class MONDO:0006869 biolink:NamedThing nodular goiter Goiter characterized by discrete tissue mass(es) that may or may not produce thyroid hormones. tmpaxzxjjyw_mondo_relaxed.owl goiter, nodular|nodular goiter (disease)|nodular goiter|nodular goitre nodular goiter (disease) DOID:13197|SCTID:419153005|MESH:D006044|SCTID:237570007|NCIT:C131437|HP:0005994|EFO:1001062|MedDRA:10018495|UMLS:C0018023 owl:Class MONDO:0001774 biolink:NamedThing posterior scleritis tmpaxzxjjyw_mondo_relaxed.owl DOID:13676|UMLS:C0155357|ICD10:H15.03|SCTID:267660007|ICD9:379.07 owl:Class HP:0011008 biolink:NamedThing Temporal pattern The speed at which disease manifestations appear and develop. tmpaxzxjjyw_mondo_relaxed.owl Speed of onset UMLS:C4021204 peter 2011-02-20T10:22:32Z human_phenotype owl:Class MONDO:0018371 biolink:NamedThing nebulin-related early-onset distal myopathy tmpaxzxjjyw_mondo_relaxed.owl distal nebulin myopathy ICD10:G71.0|Orphanet:399103 owl:Class HGNC:6149 biolink:NamedThing ITGAM tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009370 biolink:NamedThing L-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy. tmpaxzxjjyw_mondo_relaxed.owl L-2-hydroxyglutaric aciduria|L-2-hydroxyglutaric acidemia|L2HGA|L-2-HGA SCTID:237961001|ICD10:E72.8|DOID:0050574|GARD:0010472|Orphanet:79314|UMLS:C3888081|UMLS:C1855995|OMIM:236792 https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria owl:Class MONDO:0001306 biolink:NamedThing recurrent corneal erosion tmpaxzxjjyw_mondo_relaxed.owl recurrent erosion of cornea|recurrent erosion syndrome DOID:11541|ICD9:371.42|HP:0000495|SCTID:2055003|UMLS:C0155119|ICD10:H18.83 Editor note: consider obsoleting as is a finding owl:Class UBERON:0012253 biolink:NamedThing cervical squamo-columnar junction tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030914 biolink:NamedThing Clark-Baraitser syndrome tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant intellectual disability 49|autosomal dominant mental retardation 49|intellectual disability, tall stature, obesity, macrocephaly and typical facial features|Baraitser syndrome|mental retardation, tall stature, obesity, macrocephaly and typical facial features|MRD49|intellectual disability, autosomal dominant 49|Clark-Baraitser syndrome|mental retardation, autosomal dominant 49 UMLS:CN593636|GARD:0009994|DOID:0080234|UMLS:C2931130|OMIM:300602|OMIM:617752|MESH:C536208 https://rarediseases.info.nih.gov/diseases/9994/clark-baraitser-syndrome owl:Class NCBITaxon:6935 biolink:NamedThing Ixodida tmpaxzxjjyw_mondo_relaxed.owl ticks GC_ID:1 ncbi_taxonomy owl:Class HGNC:2208 biolink:NamedThing COL4A6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016176 biolink:NamedThing axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:209004|ICD10:G61.8 owl:Class MONDO:0001833 biolink:NamedThing lacrimal duct obstruction Blockage of the tear duct. tmpaxzxjjyw_mondo_relaxed.owl obstruction of lacrimal canaliculus|obstruction of lacrimal ducts|blocked lacrimal canaliculus MESH:D007767|SCTID:416920000|DOID:13929|NCIT:C34757 owl:Class MONDO:0001452 biolink:NamedThing pseudoretinitis pigmentosa tmpaxzxjjyw_mondo_relaxed.owl secondary pigmentary degeneration of retina|secondary pigmentary retinal degeneration SCTID:193396007|ICD9:362.65|UMLS:C2053820|UMLS:C0154858|DOID:12162|ICD10:H35.45 owl:Class MONDO:0044308 biolink:NamedThing bardet-biedl syndrome 21 BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM:209900). tmpaxzxjjyw_mondo_relaxed.owl Bardet-Biedl syndrome 21|BBS21 OMIM:617406|UMLS:C4319932|Orphanet:110 owl:Class CL:0002120 biolink:NamedThing CD24-positive CD38-negative IgG-negative class switched memory B cell An CD24-positive CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-positive, CD38-negative, and IgG-negative. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0001986 biolink:NamedThing Argyll Robertson pupil tmpaxzxjjyw_mondo_relaxed.owl Argyll Robertson pupil, atypical|atypical Argyll-Robertson pupil|Argyll Robertson phenomenon or pupil, nonsyphilitic DOID:14523|ICD9:379.45|UMLS:C0155375|ICD10:H57.01|SCTID:21011008 owl:Class MONDO:0017481 biolink:NamedThing amelia of lower limb, bilateral tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q72.0|Orphanet:295059 owl:Class HGNC:2151 biolink:NamedThing CNGB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033667 biolink:NamedThing Delpire-McNeill syndrome tmpaxzxjjyw_mondo_relaxed.owl DELMNES OMIM:619083 owl:Class MONDO:0013374 biolink:NamedThing supernumerary der(22)t(8;22) syndrome tmpaxzxjjyw_mondo_relaxed.owl supernumerary der(22)t(8;22) syndrome OMIM:613700|UMLS:C3150966 owl:Class MONDO:0022646 biolink:NamedThing cardiofacial syndrome short limbs tmpaxzxjjyw_mondo_relaxed.owl GARD:0001097 https://rarediseases.info.nih.gov/diseases/1097/cardiofacial-syndrome-short-limbs owl:Class MONDO:0100419 biolink:NamedThing acute myeloid leukemia, KIT exon 8 mutation Any acute myeloid leukemia that has the chromosomal anomaly KIT exon 8 mutation. (A molecular genetic abnormality indicating the presence of a mutation in exon 8 of the KIT gene located within 4q11-q12.) tmpaxzxjjyw_mondo_relaxed.owl AML, c-KIT Exon 8 Mutation|AML, KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 8 Mutation|AML, v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 8 Mutation|AML, CD117 Exon 8 Mutation|AML, KIT exon 8 mutation NCIT:C128660 owl:Class MONDO:0006684 biolink:NamedThing brain edema Increased intracellular or extracellular fluid in brain tissue. Cytotoxic brain edema (swelling due to increased intracellular fluid) is indicative of a disturbance in cell metabolism, and is commonly associated with hypoxic or ischemic injuries (see hypoxia, brain). An increase in extracellular fluid may be caused by increased brain capillary permeability (vasogenic edema), an osmotic gradient, local blockages in interstitial fluid pathways, or by obstruction of csf flow (e.g., obstructive hydrocephalus). (From Childs Nerv Syst 1992 Sep; 8(6):301-6) tmpaxzxjjyw_mondo_relaxed.owl wet brain|intracranial swelling MESH:D001929|DOID:4724|EFO:1000845|ICD9:348.5|SCTID:2032001|MedDRA:10006121 owl:Class MONDO:0012059 biolink:NamedThing polydactyly, postaxial, type A4 tmpaxzxjjyw_mondo_relaxed.owl polydactyly, postaxial, type A4|postaxial polydactyly, type A4|Papa4 OMIM:608562|UMLS:C1837868|Orphanet:93334|MESH:C563909 owl:Class HGNC:27230 biolink:NamedThing ESCO2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003922 biolink:NamedThing ovarian clear cell malignant adenofibroma A carcinoma arising from the ovary. It is characterized by the presence of malignant epithelial cells with clear cytoplasm in a fibrotic stroma. tmpaxzxjjyw_mondo_relaxed.owl ovarian clear cell adenocarcinofibroma|ovarian clear cell malignant adenofibroma DOID:6554|NCIT:C40079|ICDO:8313/3|UMLS:C2075522 owl:Class UBERON:0007414 biolink:NamedThing nucleus of midbrain tegmentum tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012576 biolink:NamedThing supranuclear palsy, progressive, 3 tmpaxzxjjyw_mondo_relaxed.owl PSNP3|supranuclear palsy, progressive, 3 OMIM:610898|Orphanet:683|MESH:C567050|UMLS:C1970476|Orphanet:240071 owl:Class CHEBI:60798 biolink:NamedThing excitatory amino acid antagonist Any substance which inhibits the action of receptors for excitatory amino acids. tmpaxzxjjyw_mondo_relaxed.owl excitatory amino acid receptor antagonist|excitatory amino acid antagonists|excitatory amino acid receptor antagonists|EAA receptor antagonists|EAA receptor antagonist owl:Class NCBITaxon:12089 biolink:NamedThing Coxsackievirus A24 tmpaxzxjjyw_mondo_relaxed.owl CV-A24|Coxsackievirus A-24|Human enterovirus CVA24|Human coxsackievirus A24 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001067 biolink:NamedThing early yaws Early yaws includes primary and secondary stages of yaws, endemic tropical treponemal nonvenereal infection: development of initial lesion at inoculation site followed by widespread dissemination of treponemes and generalized secondary granulomatous lesions that may relapse repeatedly. tmpaxzxjjyw_mondo_relaxed.owl initial frambesial ulcer|bone and joint yaws lesion|chancre of yaws|initial lesions of yaws|bone and joint lesions due to yaws|frambesia, initial or primary|primary frambesia SCTID:23191004|DOID:10568|ICD10:A66.0|ICD10:A66.6|UMLS:C0275998|ICD9:102.0|NCIT:C41352|ICD9:102.2|ICD9:102.6 owl:Class MONDO:0024507 biolink:NamedThing aniridia 1 tmpaxzxjjyw_mondo_relaxed.owl AN1|cataract, congenital, with late-onset corneal dystrophy|aniridia II, formerly|aniridia 1|aniridia II OMIM:106210|Orphanet:250923|UMLS:C0003076|SCTID:253231007 owl:Class FOODON:00002244 biolink:NamedThing snail food product tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007367 biolink:NamedThing febrile seizures, familial, 1 tmpaxzxjjyw_mondo_relaxed.owl convulsions, familial febrile|convulsions, familial febrile, 1|FEB1|febrile seizures, familial, 1 ICD9:780.39|SCTID:230432008|DOID:0111307|UMLS:C1852577|OMIM:121210|MESH:C565162 owl:Class MONDO:0022798 biolink:NamedThing Cohen lockood wyborney syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001423 https://rarediseases.info.nih.gov/diseases/1423/cohen-lockood-wyborney-syndrome owl:Class HGNC:5166 biolink:NamedThing HPV18I1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001412 biolink:NamedThing unstructured A structural quality inhering in a bearer by virtue of the bearer's lacking distinct structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016209 biolink:NamedThing benign familial nocturnal alternating hemiplegia of childhood Benign nocturnal alternating hemiplegia of childhood is a rare neurologic disease characterized by recurrent attacks of nocturnal screaming or crying followed or accompanied by unilateral or sometimes bilateral hemiplegia. Disorder is not associated with neurological or developmental impairments but may be associated with mild behavioral abnormalities. tmpaxzxjjyw_mondo_relaxed.owl benign familial nocturnal alternating hemiplegia in childhood|benign nocturnal alternating hemiplegia of childhood Orphanet:209973|UMLS:CN226880 owl:Class HGNC:14544 biolink:NamedThing WNK4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012103 biolink:NamedThing spinocerebellar ataxia type 25 Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by cerebellar ataxia and prominent sensory neuropathy. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia 25|SCA25 OMIM:608703|GARD:0009996|UMLS:C1837518|Orphanet:101111|MESH:C537202|DOID:0050974|SCTID:718770005|ICD10:G11.8 owl:Class MONDO:0023005 biolink:NamedThing double uterus-hemivagina-renal agenesis tmpaxzxjjyw_mondo_relaxed.owl GARD:0001910 https://rarediseases.info.nih.gov/diseases/1910/double-uterus-hemivagina-renal-agenesis owl:Class MONDO:0010629 biolink:NamedThing impacted teeth, multiple tmpaxzxjjyw_mondo_relaxed.owl impacted teeth, multiple OMIM:308280 owl:Class HGNC:986 biolink:NamedThing BCKDHA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010257 biolink:NamedThing prostate cancer, hereditary, X-linked 1 tmpaxzxjjyw_mondo_relaxed.owl HPCX1|prostate cancer, hereditary, X-linked 1|prostate cancer susceptibility, X-linked OMIM:300147|UMLS:C1846279 owl:Class MONDO:0022790 biolink:NamedThing cleft tongue tmpaxzxjjyw_mondo_relaxed.owl bifid tongue|cleft tongue syndrome GARD:0001395 https://rarediseases.info.nih.gov/diseases/1395/cleft-tongue owl:Class HGNC:4076 biolink:NamedThing GABRA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011949 biolink:NamedThing Thai symphalangism syndrome tmpaxzxjjyw_mondo_relaxed.owl Thai symphalangism syndrome OMIM:608028|GARD:0003557|MESH:C564303|UMLS:C1842679 https://rarediseases.info.nih.gov/diseases/3557/thai-symphalangism-syndrome owl:Class MONDO:0022321 biolink:NamedThing 2-methylacetoacetyl CoA thiolase deficiency tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930874|MESH:C535307|GARD:0008382 Editor note: todo split https://en.wikipedia.org/wiki/2-methylacetoacetyl-CoA_thiolase https://rarediseases.info.nih.gov/diseases/8382/2-methylacetoacetyl-coa-thiolase-deficiency owl:Class MONDO:0020509 biolink:NamedThing secondary syringomyelia Secondary syringomyelia is a rare medullar disease defined as a development of a fluid-filled cavity or syrinx within the spinal cord due to blockage of CSF circulation (e.g., due to basal archnoiditis, meningeal carcinomatosis, various mass lesions), spinal cord injury (e.g., due to trauma, radiation necrosis, hemorrhage, spinal abscess), spinal dysraphism or intramedullary tumours. It presents with neuropathic pain, numbness, muscular weakness, changes in tone or spasticity or autonomic changes (hyperhidrosis, heart rate or blood pressure instability). Selective loss of pain and temperature with relative preservation of dorsal column function (touch and pressure) are classic findings. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99857|ICD10:G95.0 owl:Class HGNC:28867 biolink:NamedThing IGF2BP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008352 biolink:NamedThing pupillary membrane, persistence of tmpaxzxjjyw_mondo_relaxed.owl pupillary membrane, persistence of MESH:C562700|OMIM:178900 owl:Class MONDO:0001565 biolink:NamedThing abnormal retinal correspondence tmpaxzxjjyw_mondo_relaxed.owl SCTID:79195003|DOID:12668|ICD9:368.34|ICD10:H53.31|UMLS:C0155010 owl:Class HGNC:10808 biolink:NamedThing SGCE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013054 biolink:NamedThing microcephaly, growth retardation, cataract, hearing loss, and unusual appearance tmpaxzxjjyw_mondo_relaxed.owl microcephaly, growth retardation, cataract, hearing loss, and unusual appearance OMIM:612947|UMLS:C2751870|MESH:C567849 owl:Class MONDO:0008336 biolink:NamedThing pterygium colli, isolated tmpaxzxjjyw_mondo_relaxed.owl pterygium colli, isolated OMIM:177990|UMLS:C1867442|MESH:C566741 owl:Class MONDO:0007234 biolink:NamedThing branchial myoclonus with spastic paraparesis and cerebellar ataxia tmpaxzxjjyw_mondo_relaxed.owl branchial myoclonus with spastic paraparesis and cerebellar ataxia UMLS:C1862071|MESH:C566188|OMIM:113610 owl:Class MONDO:0010118 biolink:NamedThing inherited threoninemia tmpaxzxjjyw_mondo_relaxed.owl threoninemia|hyperthreoninemia OMIM:273770 owl:Class UBERON:0004887 biolink:NamedThing left lung hilus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007095 biolink:NamedThing ameloonychohypohidrotic syndrome tmpaxzxjjyw_mondo_relaxed.owl hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis|amelo-onycho-hypohidrotic syndrome|ameloonychohypohidrotic syndrome MESH:C538245|GARD:0000647|ICD10:Q82.4|SCTID:715404000|OMIM:104570|UMLS:C1863006|Orphanet:1028 https://rarediseases.info.nih.gov/diseases/647/ameloonychohypohidrotic-syndrome owl:Class MONDO:0044092 biolink:NamedThing collagenous sprue A rare disorder affecting the digestive tract. Its cause is unclear but may be attributed, in part, to increased collagen synthesis without adequate fibrolysis. It is characterized histologically by atrophy of mucosal villi and crypts with extensive subepithelial collagen deposition. Clinical signs include nausea, vomiting, diarrhea and weight loss. Unlike celiac sprue (celiac disease), a gluten-free diet does not predict a certain regression of the disease. The clinical course follows a progression of malabsorption leading to nutritional deficiencies, small bowel ulceration/perforation, lymphoma and infection. Prognosis is usually dismal. tmpaxzxjjyw_mondo_relaxed.owl collagenous sprue|collagenous Sprues|collagenous enteropathy syndrome|sprue, collagenous|non-gluten sensitive enteropathy syndrome|collagenous enteropathy|Sprues, collagenous|non-gluten intolerance syndrome UMLS:C0341299|NCIT:C45426|MESH:D064068|SCTID:61738006 owl:Class MONDO:0010312 biolink:NamedThing radial ray deficiency, X-linked tmpaxzxjjyw_mondo_relaxed.owl radial ray deficiency, X-linked|Rrdx UMLS:C1845717|MESH:C564523|OMIM:300378 owl:Class NBO:0000338 biolink:NamedThing kinesthetic behavior "Movement behavior of the body or its parts." tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060532 biolink:NamedThing congenital heart defects and skeletal malformations syndrome tmpaxzxjjyw_mondo_relaxed.owl CHDSKM|congenital heart defects and skeletal malformations syndrome UMLS:C4539857|OMIM:617602 owl:Class MONDO:0009057 biolink:NamedThing cyanosis and hepatic disease tmpaxzxjjyw_mondo_relaxed.owl cyanosis and hepatic disease UMLS:C1857443|OMIM:219400|MESH:C565660 owl:Class MONDO:0009142 biolink:NamedThing dystonia with Ringbinden tmpaxzxjjyw_mondo_relaxed.owl dystonia with Ringbinden UMLS:C1857089|OMIM:224550|MESH:C565608 owl:Class MONDO:0015247 biolink:NamedThing opsoclonus-myoclonus syndrome Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders. tmpaxzxjjyw_mondo_relaxed.owl dancing eye-dancing feet syndrome|opsoclonus-myoclonus-ataxia syndrome|opsoclonus myoclonus syndrome|paraneoplastic opsoclonus-myoclonus-ataxia syndrome|Kinsbourne syndrome|OMS|paraneoplastic opsoclonus-myoclonus|Ataxo-opso-myoclonus syndrome|POMA syndrome|dancing eye syndrome|oma syndrome MedDRA:10053854|UMLS:C0393626|MESH:D053578|Orphanet:1183|NCIT:C4686|EFO:1001383|ICD9:379.59|SCTID:230350000|ICD10:G25.3|GARD:0010009 owl:Class HP:0002414 biolink:NamedThing Spina bifida Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. tmpaxzxjjyw_mondo_relaxed.owl Split spine SNOMEDCT_US:67531005|Fyler:4157|MSH:D016135|UMLS:C0080178 human_phenotype owl:Class MONDO:0013365 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 83 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 9p23-p21.2. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness 83|autosomal recessive nonsyndromic deafness type 83|autosomal recessive deafness 83|DFNB83|deafness, autosomal recessive 83 DOID:0110528|OMIM:613685|ICD10:H90.3 owl:Class NCBITaxon:137207 biolink:NamedThing Oligoryzomys longicaudatus tmpaxzxjjyw_mondo_relaxed.owl Oligoryzomys longicaudus GC_ID:1 NCBITaxon:29121 ncbi_taxonomy owl:Class MONDO:0060671 biolink:NamedThing epilepsy, juvenile myoclonic, susceptibility to, 10 tmpaxzxjjyw_mondo_relaxed.owl epilepsy, juvenile myoclonic, susceptibility to, 10|EJM10 DOID:0111325|OMIM:617924 owl:Class MONDO:0015678 biolink:NamedThing dysplasia of head of femur, Meyer type Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. tmpaxzxjjyw_mondo_relaxed.owl SCTID:715861004|ICD10:Q78.8|Orphanet:168621|UMLS:C4274970 owl:Class PATO:0001748 biolink:NamedThing invaginated A shape quality in which a portion of the outermost boundary of an entity folds in space such that a portion that was originally convex is now concave. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017484 biolink:NamedThing femoral agenesis/hypoplasia, unilateral tmpaxzxjjyw_mondo_relaxed.owl femoral intercalary meromelia, unilateral Orphanet:295065|ICD10:Q72.4 owl:Class MONDO:0043343 biolink:NamedThing Chilaiditi syndrome Interposition of a portion of the colon (e.g., sigmoid colon) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition. tmpaxzxjjyw_mondo_relaxed.owl syndrome, Chilaiditi|anomaly, Chilaiditi's|syndrome, Chilaiditi's|Chilaiditis anomaly|hepatodiaphragmatic colonic interposition|chilaiditi's syndrome|Chilaiditi's anomaly|Chilaiditis syndrome|subphrenic interposition syndrome|Chilaiditi anomaly|Chilaiditi's syndrome|anomaly, Chilaiditi GARD:0010685|MESH:D059269|SCTID:14911005 owl:Class MONDO:0009602 biolink:NamedThing metaphyseal modeling abnormality, skin lesions, and spastic paraplegia tmpaxzxjjyw_mondo_relaxed.owl Roy Maroteaux Kremp syndrome|metaphyseal modeling abnormality, skin lesions, and spastic paraplegia OMIM:250500|UMLS:C1855164|GARD:0000217|MESH:C535875 owl:Class MONDO:0004572 biolink:NamedThing cyclothymic disorder An affective disorder characterized by periods of depression and hypomania. These may be separated by periods of normal mood. tmpaxzxjjyw_mondo_relaxed.owl cyclothymic personality|affective personality disorder|cycloid personality|cyclothymia DOID:845|SCTID:76105009|ICD10:F34.0|ICD9:301.1|ICD9:301.13|ICD9:301.10|MESH:D003527 owl:Class MONDO:0020563 biolink:NamedThing Dedifferentiated liposarcoma Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. tmpaxzxjjyw_mondo_relaxed.owl Dedifferentiated liposarcoma|DDLS Orphanet:99970|ONCOTREE:DDLS|ICDO:8858/3|EFO:0003085|ICD9:171.9|DOID:0080531|UMLS:C0205824|NCIT:C3704|SCTID:404072004|ICD10:C49.9 owl:Class MONDO:0018611 biolink:NamedThing early-onset lamellar cataract tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237647|Orphanet:441452|OMIM:613763 owl:Class ENVO:01000869 biolink:NamedThing area of scrub An area of a planet's surface which is primarily covered by a shrubs, young trees, or stunted trees.. The surfaces of this area are in contact with an atmospheric column extending from the planetary boundary layer to the planet's exosphere with little to no physical obstruction. tmpaxzxjjyw_mondo_relaxed.owl area of shrub owl:Class NCBITaxon:55193 biolink:NamedThing Malassezia tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0004341 biolink:NamedThing Abnormality of vitamin B12 metabolism tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the vitamin B12 metabolism UMLS:C4021658 peter 2008-03-08T08:09:00Z human_phenotype owl:Class MONDO:0005594 biolink:NamedThing severe cutaneous adverse reaction A permanent mark left on the skin in the process of wound healing. tmpaxzxjjyw_mondo_relaxed.owl Scar|SCAR|scarring SCTID:275322007|NCIT:C34483|MedDRA:20000020|EFO:0006346 owl:Class MONDO:0020322 biolink:NamedThing acute biphenotypic leukemia An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl B- and T-cell mixed leukemia MESH:D015456|OMIM:601626|SCTID:278453007|UMLS:C0023464|DOID:9953|NCIT:C4673|Orphanet:98837|ICD9:207.80|ICD10:C95.0|MedDRA:10067399|ICDO:9805/3|EFO:1000828 owl:Class HGNC:16901 biolink:NamedThing SPEG tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019556 biolink:NamedThing pressure-induced localized lipoatrophy Pressure-induced localized lipoatrophy is a rare, acquired, localized lipodystrophy characterized by band-like, horizontal, asymptomatic, lipoatrophic depressions with clinically normal overlying skin usually involving the anterolateral aspect of the thighs. An identifiable history of the repeated mechanical microtrauma due to occupational or postural habits is present. tmpaxzxjjyw_mondo_relaxed.owl lipoatrophia semicircularis|semicircular lipoatrophy ICD10:E88.1|SCTID:238898001|Orphanet:90160|UMLS:CN227652 owl:Class MONDO:0022208 biolink:NamedThing crystal arthropathy tmpaxzxjjyw_mondo_relaxed.owl crystal-induced arthritis and/or synovitis|crystalline arthritis|Crystal-induced arthritis AND/OR synovitis|crystal-related arthropathy and periarthropathy|Arthritides, Crystalline|Crystal-related arthropathy and periarthropathy|Crystal Arthropathies|Crystalline Arthropathy|Arthritis, Crystal|Arthropathy, Crystalline|Arthritis, Crystalline|Crystal Arthritis|Arthritides, Crystal|Crystal Arthritides|Crystalline Arthritides|Crystalline Arthritis|Crystal arthropathy|Crystalline arthritis|Crystalline Arthropathies|crystal arthropathy|Crystal Arthropathy|Arthropathy, Crystal|Arthropathies, Crystal|Arthropathies, Crystalline MEDGEN:508879|ICD9:712.98|SCTID:18834007|ICD9:712.80|ICD9:712|ICD9:712.90|UMLS:C0152087|ICD9:712.88|GARD:0012802 owl:Class MONDO:0006534 biolink:NamedThing cholinergic urticaria A type of physical urticarias (or hives) that appears when a person is sweating. tmpaxzxjjyw_mondo_relaxed.owl Wikipedia:Cholinergic_urticaria|SCTID:73098005|EFO:1000679|ICD10:L50.5|DOID:14443|ICD9:708.5|UMLS:C0152230 owl:Class MONDO:0016012 biolink:NamedThing diethylstilbestrol syndrome Diethylstilbestrol (DES) syndrome is a malformation syndrome reported in offspring (children and grandchildren) of women exposed to DES during pregnancy and is characterized by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage. tmpaxzxjjyw_mondo_relaxed.owl fetal diethylstilbestrol syndrome|DES embryofetopathy|Distilbene embryofetopathy|DES syndrome|antenatal diethylstilbestrol exposure|diethylstilbestrol embryofetopathy MedDRA:10012780|Orphanet:1916|ICD10:Q86.8|SCTID:716005004|GARD:0001859|NCIT:C113422|UMLS:C0853695 https://rarediseases.info.nih.gov/diseases/1859/diethylstilbestrol-syndrome owl:Class MONDO:0014161 biolink:NamedThing vesicoureteral reflux 7 tmpaxzxjjyw_mondo_relaxed.owl vesicoureteral reflux 7|VUR7 OMIM:615390|Orphanet:289365|UMLS:C3809337 owl:Class HP:0100303 biolink:NamedThing Muscle fiber cytoplasmatic inclusion bodies The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. tmpaxzxjjyw_mondo_relaxed.owl Muscle fibre cytoplasmatic inclusion bodies|Muscle fiber cytoplasmic bodies|Muscle fibre cytoplasmic bodies UMLS:C4022157 doelkens 2010-08-10T02:39:22Z HP:0003790 human_phenotype owl:Class HP:0100299 biolink:NamedThing Muscle fiber inclusion bodies tmpaxzxjjyw_mondo_relaxed.owl Muscle fibre inclusion bodies UMLS:C4022159 This should have logical def changed to reference a generic muscle fiber but this is not yet in CL. doelkens 2010-08-10T02:21:34Z human_phenotype owl:Class CHEBI:139590 biolink:NamedThing primary alpha-hydroxy ketone An alpha-hydroxy ketone in which the carbonyl group and the hydroxy group are linked by a -CH2 (methylene) group. tmpaxzxjjyw_mondo_relaxed.owl primary alpha-hydroxy ketones|primary alpha-hydroxy-ketone|primary alpha-hydroxyketone|primary alpha-hydroxyketones|primary alpha-hydroxy-ketones owl:Class MONDO:0044310 biolink:NamedThing Diamond-Blackfan anemia 17 tmpaxzxjjyw_mondo_relaxed.owl Diamond-Blackfan anemia 17|DBA17 UMLS:C4479428|Orphanet:124|OMIM:617409 owl:Class MONDO:0012303 biolink:NamedThing migraine with or without aura, susceptibility to, 8 tmpaxzxjjyw_mondo_relaxed.owl migraine with or without aura, susceptibility to, 8|Mgr8|migraine with or without aura, susceptibility to, type 8 OMIM:609570 owl:Class MONDO:0020361 biolink:NamedThing partial cryptophthalmia tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q11.2|Orphanet:98950|DOID:0111718 owl:Class CL:1000702 biolink:NamedThing kidney pelvis smooth muscle cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001113 cell owl:Class MONDO:0054845 biolink:NamedThing developmental and epileptic encephalopathy, 66 tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 66|DEE66|EIEE66 OMIM:618067|DOID:0080446|UMLS:CN252658 owl:Class HP:0000820 biolink:NamedThing Abnormality of the thyroid gland An abnormality of the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl Thyroid abnormality|Thyroid disease|Abnormality of the thyroid gland UMLS:C0040128|MSH:D013959|SNOMEDCT_US:14304000 human_phenotype owl:Class MONDO:0011967 biolink:NamedThing heterotopia, periventricular, associated with chromosome 5P anomalies tmpaxzxjjyw_mondo_relaxed.owl periventricular nodular heterotopia 3|heterotopia, periventricular, associated with chromosome 5P anomalies OMIM:608098|Orphanet:2149|Orphanet:98892|MESH:C564291|UMLS:C1842562 owl:Class MONDO:0010309 biolink:NamedThing intellectual disability, X-linked 42 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked 42|intellectual disability, X-linked 42|MRX42 MESH:C564524|OMIM:300372|UMLS:C1845810 owl:Class MONDO:0015376 biolink:NamedThing first branchial cleft anomaly tmpaxzxjjyw_mondo_relaxed.owl first branchial cleft fistula|first branchial cleft cyst ICD10:Q18.0|Orphanet:141013|SCTID:73371000119103 owl:Class MONDO:0003811 biolink:NamedThing ovarian seromucinous tumor A benign, borderline, or malignant mixed epithelial tumor of the ovary. It is characterized by the presence of more than one epithelial cell type, most often serous and endocervical-type mucinous. tmpaxzxjjyw_mondo_relaxed.owl ovarian Seromucinous tumor|ovarian mixed epithelial tumor|mixed epithelial tumor of the ovary|mixed epithelial tumor of ovary|mixed epithelial neoplasm of the ovary|ovarian mixed epithelial neoplasm|mixed epithelial neoplasm of ovary SCTID:254855000|EFO:1000425|NCIT:C4508|DOID:6211|UMLS:C0346166 owl:Class MONDO:0007939 biolink:NamedThing malignant hyperthermia, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl malignant hyperthermia, susceptibility to, type 2|malignant hyperpyrexia susceptibility type 2|MHS2|malignant hyperthermia, susceptibility to, 2|malignant hyperthermia susceptibility type 2|Mhs2 MESH:C535695|OMIM:154275|GARD:0003364|Orphanet:423 https://rarediseases.info.nih.gov/diseases/3364/malignant-hyperthermia-susceptibility-type-2 owl:Class HGNC:4507 biolink:NamedThing GABBR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013256 biolink:NamedThing chromosome 15q24 deletion syndrome 15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies. tmpaxzxjjyw_mondo_relaxed.owl WITKOS|chromosome 15q24 deletion syndrome|Del(15)(q24)|Witteveen-Kolk syndrome|15q24 microdeletion syndrome|monosomy 15q24|chromosome 15Q24 Duplication syndrome Orphanet:94065|UMLS:C3150674|OMIM:613406|MESH:C579849|GARD:0012219|ICD10:Q93.5|DOID:0060395|SCTID:699308002|UMLS:CN237818 owl:Class MONDO:0003856 biolink:NamedThing adult malignant hemangiopericytoma A malignant hemangiopericytoma occurring in the adult population. tmpaxzxjjyw_mondo_relaxed.owl hemangiopericytoma, malignant of adults|adult hemangiopericytoma, malignant|malignant adult hemangiopericytoma NCIT:C7946|DOID:6332|UMLS:C0279547 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0006400 biolink:NamedThing salivary gland acinic cell carcinoma A carcinoma of the salivary gland characterized by serous acinar cell differentiation. The vast majority of cases occur in the parotid gland. It usually presents as a slowly enlarging mass. A minority of patients experience pain. It may recur or metastasize. Multiple recurrences and metastasis to cervical lymph nodes are usually associated with a poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl salivary gland acinic cell cancer|acinic cell neoplasm of the salivary gland|acinic cell neoplasm of salivary gland|acinic cell carcinoma of salivary gland|acinic cell tumor of salivary gland|acinic cell tumor of the salivary gland|salivary gland acinic cell neoplasm|salivary gland acinic cell tumor|acinic cell carcinoma of the salivary gland UMLS:C0279738|EFO:1000513|NCIT:C8013 owl:Class MONDO:0000363 biolink:NamedThing gummatous syphilis A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050584 owl:Class MONDO:0000811 biolink:NamedThing anomalous left coronary artery from the pulmonary artery A congenital coronary vessel anomaly in which the left main coronary artery originates from the pulmonary artery instead of from aorta. The congenital heart defect typically results in coronary artery fistula; left-sided heart failure and mitral valve insufficiency during the first months of life. tmpaxzxjjyw_mondo_relaxed.owl ALCAPA|White-Garland syndrome|ALCAPA disorder|Bland-White-Garland syndrome|BWGS UMLS:C1735886|DOID:0060562|MESH:D063748 owl:Class MONDO:0009463 biolink:NamedThing internal carotid arteries, hypoplasia of tmpaxzxjjyw_mondo_relaxed.owl internal carotid arteries, hypoplasia of OMIM:243100 owl:Class MONDO:0018818 biolink:NamedThing facial diplegia with paresthesias tmpaxzxjjyw_mondo_relaxed.owl facial diplegia with paresthesias variant of GBS|facial diplegia with paresthesias variant of Guillain-Barré syndrome|facial diplegia with paresthesias variant of Guillain-BarrC) syndrome UMLS:CN776915|Orphanet:480701 owl:Class MONDO:0001478 biolink:NamedThing anisometropia A condition of an inequality of refractive power of the two eyes. tmpaxzxjjyw_mondo_relaxed.owl anisometropia (disease)|anisometropia anisometropia (disease) SCTID:3289004|ICD10:H52.31|CSP:1116-1678|HP:0012803|UMLS:C0003081|MESH:D015858|DOID:12273|ICD9:367.31 owl:Class MONDO:0042915 biolink:NamedThing Schmitt-Gillenwater-Kelly syndrome tmpaxzxjjyw_mondo_relaxed.owl Schmitt Gillenwater Kelly syndrome|radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema GARD:0000258 owl:Class MONDO:0012318 biolink:NamedThing leukemia, chronic lymphocytic, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl leukemia, chronic lymphocytic, susceptibility to, type 1|Clls1|leukemia, chronic lymphocytic, susceptibility to, 1 Orphanet:67038|OMIM:609630 owl:Class MONDO:0000615 biolink:NamedThing progesterone-receptor positive breast cancer tmpaxzxjjyw_mondo_relaxed.owl DOID:0060077 Editor note: check why not in NCIT; note also that triple-positive should be classified here owl:Class MONDO:0005396 biolink:NamedThing thoracic aortic aneurysm An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta. tmpaxzxjjyw_mondo_relaxed.owl SCTID:433068007|DOID:14004|OMIM:607086|OMIM:132900|Orphanet:91387|OMIM:615436|EFO:0004282|OMIM:607087|OMIM:613780|MESH:D017545|OMIM:611788|NCIT:C27001|UMLS:C0162872 owl:Class MONDO:0020734 biolink:NamedThing erythrocyte AMP deaminase deficiency tmpaxzxjjyw_mondo_relaxed.owl erythrocyte AMP deaminase deficiency 2022-04-01 OMIM:612874|UMLS:C2752073|Orphanet:45 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class HGNC:16980 biolink:NamedThing CFHR3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012302 biolink:NamedThing parietal foramina 3 tmpaxzxjjyw_mondo_relaxed.owl parietal foramina 3|PFM3 MESH:C563697|Orphanet:60015|OMIM:609566|UMLS:C1835980 owl:Class MONDO:0030018 biolink:NamedThing autoinflammation with episodic fever and lymphadenopathy tmpaxzxjjyw_mondo_relaxed.owl AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY|Cria Syndrome|autoinflammation with episodic fever and lymphadenopathy|Cleavage-Resistant Ripk1-Induced Autoinflammatory Syndrome|AIEFL OMIM:618852 owl:Class MONDO:0018941 biolink:NamedThing furuncular myiasis Furuncular myiasis in humans is caused by two species: the Cayor worm (larvae of the African tumbu fly Cordylobia anthropophaga) and the larvae of the human botfly (Dermatobia hominis). tmpaxzxjjyw_mondo_relaxed.owl furunculoid myiasis|furunculous myiasis GARD:0002418|UMLS:C2931766|ICD10:B87.0|Orphanet:591|MESH:C538194 owl:Class MONDO:0054861 biolink:NamedThing intellectual disability, autosomal recessive 63 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, autosomal recessive 63|mental retardation, autosomal recessive 63|MRT63 OMIM:618095 owl:Class MONDO:0100415 biolink:NamedThing acute myeloid leukemia, FLT3 internal tandem duplication Any acute myeloid leukemia that has the chromosomal anomaly FLT3 internal tandem duplication. (A genetic abnormality that arises from duplications of the juxtamembrane portion of the gene and results in constitutive activation of the FLT3 receptor tyrosine kinase protein in early hematopoietic progenitor cells. It is associated with acute myelogenous leukemia where it appears to correlate with a poor prognosis.) tmpaxzxjjyw_mondo_relaxed.owl AML, FLT3 internal tandem duplication|AML, FLT3-ITD Activating Mutation|AML, Activating FLT3-ITD Mutation|AML, FLT3-ITD Mutation|AML, FLT3/ITD Mutation|AML, Activating FLT3-ITD Gene Mutation|AML, FLT3-ITD|AML, FLT3 ITD NCIT:C67494|NCIT:C126748 owl:Class MONDO:0005830 biolink:NamedThing lumpy skin disease A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024106|MESH:D008166|EFO:0007349 owl:Class MONDO:0016394 biolink:NamedThing sporadic infantile bilateral striatal necrosis Sporadic infantile bilateral necrosis is the sporadic form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleaus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. tmpaxzxjjyw_mondo_relaxed.owl sporadic infantile striatonigral degeneration|acute bilateral striatal necrosis|ABSN|sporadic infantile striatonigral necrosis|sporadic IBSN ICD10:G23.2|Orphanet:225147 owl:Class MONDO:0007331 biolink:NamedThing cleft chin tmpaxzxjjyw_mondo_relaxed.owl cleft chin|Chin dimple 2022-04-01 OMIM:119000 Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: HP:0400001 HP:0400001 https://github.com/monarch-initiative/hpo-annotation-data/pull/234 owl:Class HGNC:19661 biolink:NamedThing TNNI3K tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21150 biolink:NamedThing RNF125 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012194 biolink:NamedThing aneurysm, intracranial berry, 3 tmpaxzxjjyw_mondo_relaxed.owl aneurysm, intracranial BERRY, 3|ANIB3 MESH:C563792|UMLS:C1836757|Orphanet:231160|OMIM:609122 owl:Class MONDO:0023196 biolink:NamedThing frontonasal malformation cloacal exstrophy tmpaxzxjjyw_mondo_relaxed.owl fronto nasal malformation cloacal exstrophy GARD:0002389 https://rarediseases.info.nih.gov/diseases/2389/fronto-nasal-malformation-cloacal-exstrophy owl:Class HP:0031058 biolink:NamedThing Impairment of activities of daily living Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. tmpaxzxjjyw_mondo_relaxed.owl 2017-05-28 22:14:33+00:00 peter human_phenotype owl:Class MONDO:0007901 biolink:NamedThing levator-medial rectus synkinesis tmpaxzxjjyw_mondo_relaxed.owl levator-medial rectus synkinesis|oculomotor-levator synkinesis UMLS:C1835403|MESH:C563625|OMIM:151610 owl:Class MONDO:0023704 biolink:NamedThing Martinez Monasterio Pinheiro syndrome A form of blepharo-cheilo-dontic syndrome with with cleft lip and palate, complete absence of deciduous teeth, hypodontia of permanent teeth, hair alterations, hypertelorism, midface hypoplasia, abnormal EEG, syndactyly, and other findings. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl cleft lip-palate-oligodontia-syndactyly-hair alterations|cleft lip/palate oligodontia syndactyly hair alterations OMIM:119580|GARD:0003404|UMLS:C2931089|MESH:C536027 https://rarediseases.info.nih.gov/diseases/3404/martinez-monasterio-pinheiro-syndrome owl:Class HGNC:7432 biolink:NamedThing MTHFD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:37175 biolink:NamedThing organic hydride tmpaxzxjjyw_mondo_relaxed.owl organic hydrides owl:Class MONDO:0015843 biolink:NamedThing uterine hypoplasia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:180139|MedDRA:10063146|ICD10:Q51.8 owl:Class MONDO:0030309 biolink:NamedThing Leber hereditary optic neuropathy, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl LHONAR|Leber hereditary optic neuropathy, autosomal recessive|mitochondrial complex 1 deficiency, nuclear type 38 OMIM:619382 owl:Class MONDO:0043959 biolink:NamedThing pseudolymphoma A neoplastic process that resembles a malignant lymphoma, but has a benign course. tmpaxzxjjyw_mondo_relaxed.owl reactive lymphoid Hyperplasias|hyperplasia, reactive lymphoid|reactive lymphoid hyperplasia|lymphoid Hyperplasias, reactive|lymphocytomas|lymphocytoma|pseudolymphomas|benign lymphoid hyperplasia|lymphoid hyperplasia, reactive|pseudolymphoma|hyperplasias, reactive lymphoid NCIT:C3825|MESH:D019310|UMLS:C0221269|EFO:1001414|SCTID:19750001 owl:Class HGNC:10540 biolink:NamedThing SAT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054593 biolink:NamedThing microcephaly 18, primary, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl microcephaly 18, primary, autosomal dominant|MCPH18|primary autosomal dominant microcephaly 18 OMIM:617520|UMLS:C4479608|DOID:0070295 https://github.com/monarch-initiative/mondo/issues/3738 owl:Class NCBITaxon:1897064 biolink:NamedThing Cryptococcus neoformans species complex tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0008049 biolink:NamedThing myopathy, distal, infantile-onset tmpaxzxjjyw_mondo_relaxed.owl myopathy, distal, infantile-onset UMLS:C4011725|OMIM:160300|UMLS:C1834556|DOID:0070196 owl:Class MONDO:0001326 biolink:NamedThing dental pulp necrosis Death of pulp tissue with or without bacterial invasion. When the necrosis is due to ischemia with superimposed bacterial infection, it is referred to as pulp gangrene. When the necrosis is non-bacterial in origin, it is called pulp mummification. tmpaxzxjjyw_mondo_relaxed.owl necrotic pulp|necrosis of pulp|necrosis of the pulp|pulp necrosis SCTID:42711005|UMLS:C0011407|ICD9:522.1|DOID:11623|MESH:D003790|ICD10:K04.1 owl:Class MONDO:0010951 biolink:NamedThing dilated cardiomyopathy 1B A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, familial dilated|cardiomyopathy, familial dilated, 1|cardiomyopathy, dilated, 1B|dilated cardiomyopathy type 1B OMIM:600884|UMLS:C0340427|ICD10:I42.0|DOID:0110443 owl:Class CL:0002294 biolink:NamedThing type-1 epithelial cell of thymus An epithelial cell with a well defined Golgi apparatus that makes up the continuous layer of cells bordering the thymic tissue beneath the capsule. tmpaxzxjjyw_mondo_relaxed.owl subcapsular thymic epithelial cell FMA:72209 tmeehan 2010-09-13T02:37:23Z cell owl:Class HP:0032154 biolink:NamedThing Aphthous ulcer Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. tmpaxzxjjyw_mondo_relaxed.owl Canker sore 2018-12-02 14:06:55+00:00 peter human_phenotype owl:Class MONDO:0004858 biolink:NamedThing occlusion of gallbladder Blockage of the normal flow of the contents of the gallbladder. tmpaxzxjjyw_mondo_relaxed.owl obstruction of gallbladder ICD10:K82.0|ICD9:575.2|UMLS:C0156214|DOID:9714|NCIT:C78308|SCTID:197416005 owl:Class MONDO:0012645 biolink:NamedThing glaucoma 1, open angle, N tmpaxzxjjyw_mondo_relaxed.owl GLC1N|glaucoma 1, open angle, N|JOAG1N UMLS:C1969812|Orphanet:98977|OMIM:611274|MESH:C566977 owl:Class MONDO:0015413 biolink:NamedThing median cleft of the upper lip and maxilla Median cleft of the upper lip and maxilla is a rare, congenital, developmental defect during embryogenesis characterized by a midline vertical cleft through the upper lip and premaillary bone (can also involve the nasal septum and central nervous system). The phenotypic spectrum is highly variable (ranging from a simple vermillion notch to a wide complete cleft) and hypo/hypertelorism, telecanthus, monophthalmia, flat or cleft nose, wide columella, median alveolar cleft and cranial malformations may be associated. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q18.8|Orphanet:141239 owl:Class MONDO:0011312 biolink:NamedThing thyroid carcinoma, nonmedullary, with or without cell oxyphilia tmpaxzxjjyw_mondo_relaxed.owl TCO1|nonmedullary thyroid carcinoma, with or without cell oxyphilia|thyroid carcinoma, nonmedullary, with or without cell oxyphilia|TCO 1|TCO OMIM:603386|UMLS:C1863925|Orphanet:319487|GARD:0008488|MESH:C537842 https://rarediseases.info.nih.gov/diseases/8488/nonmedullary-thyroid-carcinoma-with-or-without-cell-oxyphilia owl:Class MONDO:0011981 biolink:NamedThing autoimmune thyroid disease, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl autoimmune thyroid disease, susceptibility to, 2|AITD2|autoimmune thyroid disease, susceptibility to, type 2 OMIM:608174|UMLS:C1842445 owl:Class MONDO:0032886 biolink:NamedThing Liang-Wang syndrome tmpaxzxjjyw_mondo_relaxed.owl LIANG-WANG SYNDROME|LIWAS OMIM:618729 owl:Class MONDO:0012583 biolink:NamedThing tooth agenesis, selective, 5 tmpaxzxjjyw_mondo_relaxed.owl STHAG5|hypodontia/oligodontia 5|he-Zhao deficiency|tooth agenesis, selective, 5 MESH:C565757|OMIM:610926|UMLS:C1858210|Orphanet:99798 owl:Class MONDO:0043904 biolink:NamedThing leishmaniasis, diffuse cutaneous A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement. tmpaxzxjjyw_mondo_relaxed.owl leproid leishmaniasis|diffuse cutaneous Leishmaniases|lepromatous cutaneous leishmaniasis|cutaneous leishmaniasis, diffuse|diffuse cutaneous leishmaniasis|Leishmaniases, diffuse cutaneous|cheloid leishmaniasis|cutaneous Leishmaniases, diffuse|dcl - diffuse cutaneous leishmaniasis SCTID:38573008|MESH:D016774 owl:Class HGNC:11303 biolink:NamedThing SRP72 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017297 biolink:NamedThing chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids tmpaxzxjjyw_mondo_relaxed.owl CLIPPERS GARD:0010779|UMLS:C3854437|Orphanet:284448 owl:Class MONDO:0030258 biolink:NamedThing pontocerebellar hypoplasia, type 14 tmpaxzxjjyw_mondo_relaxed.owl PCH14|pontocerebellar hypoplasia, type 14 OMIM:619301 owl:Class MONDO:0006784 biolink:NamedThing hemorrhagic disease of newborn A condition characterized as a coagulation disturbance in newborns due to vitamin K deficiency resulting in impaired production of coagulation factors II, VII, IX, and X, and proteins C and S by the liver. tmpaxzxjjyw_mondo_relaxed.owl vitamin K deficiency bleeding in newborn|hemorrhagic disease of newborn ICD10:P53|MESH:D006475|NCIT:C111857|EFO:1000964|SCTID:12546009|MedDRA:10019601|ICD9:776.0 owl:Class MONDO:0004410 biolink:NamedThing sarcomatoid penile squamous cell carcinoma A squamous cell carcinoma that arises from the penis and is characterized by the presence of malignant spindle-shaped cells. tmpaxzxjjyw_mondo_relaxed.owl spindle cell carcinoma of the penis|sarcomatous carcinoma of the penis|sarcomatoid penile carcinoma|sarcomatoid penile squamous cell carcinoma|squamous cell carcinoma of the penis, sarcomatoid type|squamous cell carcinoma of penis, sarcomatoid type|sarcomatoid carcinoma of the penis NCIT:C6984|DOID:7958|UMLS:C1335923 owl:Class MONDO:0018500 biolink:NamedThing cutaneous larva migrans Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpinginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances. tmpaxzxjjyw_mondo_relaxed.owl dew itch|creeping eruption|ground itch|CLM SCTID:19362000|ICD10:B76.9|MESH:D007815|Orphanet:423717|GARD:0001629|ICD9:126.9 https://rarediseases.info.nih.gov/diseases/1629/cutaneous-larva-migrans owl:Class GO:0016885 biolink:NamedThing ligase activity, forming carbon-carbon bonds Catalysis of the joining of two molecules via a carbon-carbon bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0600026 biolink:NamedThing vanishing lung syndrome A rare form of irreversible damage to the pulmonary parenchyma often due to chronic obstructive pulmonary disease (COPD). It is associated with a spectrum of clinical manifestations, including worsening dyspnea, cough, declining pulmonary function, and occasionally spontaneous pneumothorax due to ruptured bullae. tmpaxzxjjyw_mondo_relaxed.owl VLS|idiopathic giant bullous emphysema http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0017184 biolink:NamedThing autosomal dominant hyperinsulinism due to SUR1 deficiency Autosomal dominant hyperinsulinism due to SUR1 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy and usually a good clinical response to diazoxide. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism). tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency UMLS:C4274080|SCTID:717046003|Orphanet:276575|UMLS:CN202625|ICD10:E16.1|OMIM:256450 owl:Class MONDO:0014301 biolink:NamedThing dowling-degos disease 3 tmpaxzxjjyw_mondo_relaxed.owl DDD3|Dowling-Degos disease 3 OMIM:615674|UMLS:C3810286|Orphanet:79145 owl:Class MONDO:0012883 biolink:NamedThing acute promyelocytic leukemia An aggressive form of acute myeloid leukemia (AML), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue. tmpaxzxjjyw_mondo_relaxed.owl leukemia, acute promyelocytic|acute promyelocytic leukemia with PML-rara|acute promyelocytic leukemia|AML with t(15;17)(q22;q12)|acute myeloblastic leukemia 3|promyelocytic leukemia|FAB M3|AML with t(15;17)(q22;q12);(PML/RARalpha) and variants|APML|acute promyelocytic leukemia with t(15;17)(q22;q12); PML-rara|acute myeloid leukemia M3|acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants|APL|APML - acute promyelocytic leukemia|AML M3|acute myeloblastic leukemia type 3|acute promyelocytic leukemia with t(15;17)(q22;q12); PML/rara OMIM:612376|ICDO:9866/3|SCTID:110004001|Orphanet:520|MedDRA:10001019|ICD10:C92.4|NCIT:C3182|ICD10:C92.40|UMLS:C0023487|EFO:0000224|GARD:0000538|DOID:0060318|MESH:D015473 owl:Class CHEBI:76710 biolink:NamedThing EC 4.* (lyase) inhibitor An enzyme inhibitor which interferes with the action of a lyase (EC 4.*.*.*). Lyases are enzymes cleaving C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation. tmpaxzxjjyw_mondo_relaxed.owl EC 4.* inhibitors|lyase (EC 4.*) inhibitorS|lyase (EC 4.*) inhibitor|EC 4.* (lyase) inhibitors|EC 4.*.*.* inhibitor|EC 4.*.*.* inhibitors|EC 4.* inhibitor|lyase inhibitors|lyase inhibitor owl:Class UBERON:0003380 biolink:NamedThing cardiac muscle of left atrium tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:0000617 biolink:NamedThing GABAergic neuron A neuron that uses GABA as a vesicular neurotransmitter tmpaxzxjjyw_mondo_relaxed.owl GABA-ergic neuron WBbt:0005190|FMA:84788 cell owl:Class MONDO:0005139 biolink:NamedThing morbid obesity An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight. tmpaxzxjjyw_mondo_relaxed.owl severe obesity ICD9:278.01|NIFSTD:nlx_dys_20090303|NCIT:C34858|EFO:0001074|SCTID:83911000119104|UMLS:C0028756|MESH:D009767|DOID:11981 owl:Class MONDO:0020389 biolink:NamedThing pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome tmpaxzxjjyw_mondo_relaxed.owl APV/PDA, non-Fallot type|absence of pulmonary valve-ventricular septal defect-persistent ductus arteriosus syndrome|pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome|PVA/PDA, non-Fallot type ICD10:Q22.2|Orphanet:99048|UMLS:CN207270 owl:Class FOODON:00001871 biolink:NamedThing food product analog tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2464 biolink:NamedThing VCAN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0034143 biolink:NamedThing early-onset calcifying leukoencephalopathy-skeletal dysplasia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:556985 owl:Class MONDO:0002548 biolink:NamedThing cellular schwannoma A morphologic variant of schwannoma characterized by hypercellularity, Antoni A pattern, and the absence of well-formed Verocay bodies. tmpaxzxjjyw_mondo_relaxed.owl cellular neurinoma|cellular neurilemmoma|cellular schwannoma|CSCHW DOID:3196|NCIT:C4724|ONCOTREE:CSCHW|ICD9:215.9|SCTID:404026003|UMLS:C0431124 owl:Class MONDO:0015728 biolink:NamedThing distal trisomy 15q tmpaxzxjjyw_mondo_relaxed.owl telomeric duplication 15q|distal trisomy type 15q|distal duplication 15q|trisomy 15qter MESH:C538036|Orphanet:1707|ICD10:Q92.3 owl:Class HGNC:794 biolink:NamedThing ATIC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007657 biolink:NamedThing giant neutrophil leukocytes tmpaxzxjjyw_mondo_relaxed.owl giant neutrophil leukocytes UMLS:C1842039|OMIM:137500 owl:Class MONDO:0100480 biolink:NamedThing autoimmune primary adrenal insufficiency Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands. tmpaxzxjjyw_mondo_relaxed.owl autoimmune Addison's disease|autoimmune adrenalitis Orphanet:85138|NCIT:C113814 http://orcid.org/0000-0001-5208-3432 owl:Class GO:0004561 biolink:NamedThing alpha-N-acetylglucosaminidase activity Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. tmpaxzxjjyw_mondo_relaxed.owl alpha-D-2-acetamido-2-deoxyglucosidase activity|alpha-acetylglucosaminidase activity|NAG activity|alpha-N-acetyl-D-glucosaminide N-acetylglucosaminohydrolase activity|N-acetyl-alpha-glucosaminidase activity|N-acetyl-alpha-D-glucosaminidase activity owl:Class HGNC:4942 biolink:NamedThing HLA-DQA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018346 biolink:NamedThing ferro-cerebro-cutaneous syndrome tmpaxzxjjyw_mondo_relaxed.owl cerebro-cutaneous syndrome with iron overload UMLS:CN226080|Orphanet:397922|ICD10:G23.0 owl:Class CL:0000627 biolink:NamedThing transporting cell A cell involved in transporting nutrients, minerals, water, gases and other chemicals between cells for a variety of purposes including conveying nutrition to other tissues, removing waste products from the tissues, conveying gases for respiration, distributing heat and repelling invasion of foreign substances. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class HGNC:14082 biolink:NamedThing ANLN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022791 biolink:NamedThing coarse face hypotonia constipation tmpaxzxjjyw_mondo_relaxed.owl Sondheimer syndrome GARD:0001412 https://rarediseases.info.nih.gov/diseases/1412/coarse-face-hypotonia-constipation owl:Class MONDO:0004244 biolink:NamedThing proximal-type epithelioid sarcoma An epithelioid sarcoma predominantly involving the pelvis, perineum, and genital organs. It tends to have a more aggressive clinical course as compared to the more frequently seen distal-type epithelioid sarcoma. tmpaxzxjjyw_mondo_relaxed.owl central epithelioid sarcoma|proximal-type epithelioid sarcoma|PTES ONCOTREE:PTES|DOID:7492|NCIT:C27472|UMLS:C1335563 owl:Class MONDO:0015557 biolink:NamedThing Smouldering systemic mastocytosis Smouldering systemic mastocytosis is a type of systemic mastocytosis (SM). This clonal hematologic disease, with a slow progression, results in an accumulation of neoplastic mast cells in the visceral organs over time and patients present with splenomegaly, hypercellular marrow and, in some cases, urticaria pigmentosa-like skin lesions. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:158775|ICD10:C96.2 owl:Class MONDO:0009086 biolink:NamedThing deafness-small bowel diverticulosis-neuropathy syndrome Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). tmpaxzxjjyw_mondo_relaxed.owl nerve type deafness with mesenteric diverticula of small bowel and progressive sensory neuropathy|Groll Hirschowitz syndrome|deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy|Groll-Hirschowitz syndrome GARD:0002568|MESH:C537305|UMLS:C1857338|SCTID:733071009|OMIM:221400|Orphanet:3217 owl:Class MONDO:0017164 biolink:NamedThing hemolytic disease of the newborn with Kell alloimmunization tmpaxzxjjyw_mondo_relaxed.owl anti-K HDN|maternal anti-Kell alloimmunization ICD10:P55.8|UMLS:CN202586|Orphanet:275944 owl:Class HGNC:23168 biolink:NamedThing FANCM tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4908 biolink:NamedThing HIBCH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002003 biolink:NamedThing papilledema Swelling around the optic disc, usually due to increased intracranial pressure or pressure on the optic nerve by a tumor. tmpaxzxjjyw_mondo_relaxed.owl edema of the optic disc|papilloedema|Choked disk DOID:146|SCTID:423341008|ICD9:377.00|GARD:0007318|ICD9:377.0|ICD9:377.31|NCIT:C3307|ICD10:H46.0|ICD10:H47.1|ICD10:H47.10 https://rarediseases.info.nih.gov/diseases/7318/papilledema owl:Class MONDO:0014957 biolink:NamedThing language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia tmpaxzxjjyw_mondo_relaxed.owl language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia; LADCI|language delay and attention Deficit-hyperactivity disorder/cognitive impairment with or without Cardiac arrhythmia|LADCI UMLS:C4310678|OMIM:617182 owl:Class MONDO:0015753 biolink:NamedThing cap myopathy Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis. tmpaxzxjjyw_mondo_relaxed.owl congenital myopathy with caps|Cap disease OMIM:609285|SCTID:703532002|OMIM:609284|UMLS:C3710589|MESH:C579969|ICD10:G71.2|GARD:0011915|Orphanet:171881 https://rarediseases.info.nih.gov/diseases/11915/cap-myopathy owl:Class MONDO:0030074 biolink:NamedThing spondylometaphyseal dysplasia with corneal dystrophy tmpaxzxjjyw_mondo_relaxed.owl spondylometaphyseal dysplasia with corneal dystrophy|SMDCD|SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY OMIM:618961 owl:Class MONDO:0021285 biolink:NamedThing carcinoma in situ of urethra A in situ carcinoma that involves the urethra. tmpaxzxjjyw_mondo_relaxed.owl stage 0is carcinoma of urethra|stage 0is urethral cancer|carcinoma in situ of the urethra|urethra in situ carcinoma|stage 0is urethral cancer aJCC v7|carcinoma in situ of urethra|stage 0 urethra carcinoma|stage 0is carcinoma of the urethra|stage 0is urethral carcinoma|urethra carcinoma in situ|stage 0is urethra carcinoma|urethral carcinoma in situ UMLS:C0346280|NCIT:C4531|SCTID:92784007|ICD9:233.9 owl:Class MONDO:0013943 biolink:NamedThing peroxisome biogenesis disorder 8B tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder type 8B|PBD8B|peroxisome biogenesis disorder 8B Orphanet:772|OMIM:614877|Orphanet:44|UMLS:C3553960 https://github.com/monarch-initiative/mondo/issues/2632 owl:Class MONDO:0032789 biolink:NamedThing intellectual developmental disorder, autosomal recessive 71 tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71|MRT71|Mental Retardation, Autosomal Recessive 71 OMIM:618504 owl:Class MONDO:0054750 biolink:NamedThing amyotrophic lateral sclerosis, susceptibility to, 24 tmpaxzxjjyw_mondo_relaxed.owl ALS24|amyotrophic lateral sclerosis, susceptibility to, 24 UMLS:CN842244|OMIM:617892 owl:Class MONDO:0008008 biolink:NamedThing MOMO syndrome MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. tmpaxzxjjyw_mondo_relaxed.owl macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)|macrosomia, obesity, macrocephaly, ocular abnormalities|macrocephaly-obesity-mental disability-ocular abnormalities syndrome|momo syndrome|macrosomia, obesity, macrocephaly, and ocular abnormalities|macrosomia-obesity-macrocephaly-ocular abnormalities syndrome SCTID:724137002|GARD:0000178|OMIM:157980|Orphanet:2563|ICD10:Q87.3|UMLS:C1834759|MESH:C535812 https://rarediseases.info.nih.gov/diseases/178/momo-syndrome owl:Class MONDO:0032666 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl EV4|EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4 OMIM:618307 owl:Class HGNC:4456 biolink:NamedThing GPD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010223 biolink:NamedThing ichthyosis, X-linked, without steroid sulfatase deficiency tmpaxzxjjyw_mondo_relaxed.owl ichthyosis, X-linked, without steroid sulfatase deficiency Orphanet:461|UMLS:C1848387|MESH:C564729|OMIM:300001 owl:Class MONDO:0018748 biolink:NamedThing linear IgA Dermatosis Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of immunoglobulin A and occasionally immunoglobulin G classes against epidermal basement membrane proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., vancomycin). tmpaxzxjjyw_mondo_relaxed.owl GARD:0010960|MedDRA:10024515|UMLS:C0406650|MESH:D062027|ICD10:L10.8|SCTID:95330001|Orphanet:46488 owl:Class MONDO:0400006 biolink:NamedThing botryomycosis A rare chronic suppurative bacterial infection involving mostly subcutaneous tissues and less frequently other organs. Botryomycosis is mostly caused by Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa but the exact pathogenesis remains uncertain. Treatment often requires a combination of both surgical debridement and long-term antimicrobial therapy. tmpaxzxjjyw_mondo_relaxed.owl pyoderma vegetans|bacterial pseudomycosis 2021-05-10 18:49:42+00:00 MPATH:859 http://orcid.org/0000-0002-7463-6306 owl:Class MONDO:0017404 biolink:NamedThing distal Xq28 microduplication syndrome Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl distal trisomy Xq28|distal dup(X)q(28) ICD10:Q99.8|UMLS:CN203151|Orphanet:293939 owl:Class IAO:8000020 biolink:NamedThing EL++ ontology module tmpaxzxjjyw_mondo_relaxed.owl EL++ ontology module owl:Class MONDO:0019678 biolink:NamedThing brachydactyly type A5 Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb. tmpaxzxjjyw_mondo_relaxed.owl brachydactyly type A5 nail dysplasia|absent middle phalanges of digits 2-5 with nail dysplasia|brachydactyly with absence of middle phalanges and hypoplastic nails Orphanet:93389|MESH:C537091|ICD10:Q73.8|UMLS:C1862138|SCTID:720570007|GARD:0000982 https://rarediseases.info.nih.gov/diseases/982/brachydactyly-type-a5 owl:Class MONDO:0015407 biolink:NamedThing cerebrofacial arteriovenous metameric syndrome type 3 tmpaxzxjjyw_mondo_relaxed.owl CAMS3 UMLS:CN199502|SCTID:703268008|Orphanet:141199|UMLS:C3838691|ICD10:Q28.2 owl:Class MONDO:0018680 biolink:NamedThing cutaneous pseudolymphoma A pseudolymphoma of the skin. tmpaxzxjjyw_mondo_relaxed.owl pseudolymphoma of Spiegler|lymphadenosis Benigna cutis|lymphocytoma cutis SCTID:128862000|ICD10:L98.6|UMLS:C0311220|Orphanet:451607|NCIT:C62776 owl:Class NCBITaxon:31285 biolink:NamedThing Trypanosoma brucei gambiense tmpaxzxjjyw_mondo_relaxed.owl Trypanosoma gambiense|Trypanosoma brucei subsp. gambiense|Trypanosoma (Trypanozoon) brucei gambiense GC_ID:1 ncbi_taxonomy owl:Class MONDO:0003068 biolink:NamedThing postauricular lymphadenitis Inflammation of the postauricular lymph nodes. tmpaxzxjjyw_mondo_relaxed.owl lymphadenitis (disease) of mastoid lymph node|mastoid lymph node lymphadenitis (disease) NCIT:C27332|UMLS:C0919638|DOID:4638 owl:Class CL:1001431 biolink:NamedThing kidney collecting duct principal cell tmpaxzxjjyw_mondo_relaxed.owl KUPO:0001128 cell owl:Class MONDO:0022504 biolink:NamedThing arthrogryposis spinal muscular atrophy tmpaxzxjjyw_mondo_relaxed.owl GARD:0000795 https://rarediseases.info.nih.gov/diseases/795/arthrogryposis-spinal-muscular-atrophy owl:Class MONDO:0007519 biolink:NamedThing Edinburgh malformation syndrome Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991. tmpaxzxjjyw_mondo_relaxed.owl typus Edinburgensis|Edinburgh malformation syndrome UMLS:C0795933|OMIM:129850|ICD10:Q95.2|MESH:C563051|GARD:0002074|Orphanet:1895 https://rarediseases.info.nih.gov/diseases/2074/edinburgh-malformation-syndrome owl:Class HGNC:25792 biolink:NamedThing USB1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004194 biolink:NamedThing ovarian stromal hyperthecosis A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels. tmpaxzxjjyw_mondo_relaxed.owl DOID:7347|UMLS:C1518743|NCIT:C40446 owl:Class MONDO:0003055 biolink:NamedThing secretory meningioma A WHO grade I meningioma characterized by the presence of epithelial differentiation and numerous intracellular PAS positive bodies that are rich in glycogen. tmpaxzxjjyw_mondo_relaxed.owl secretory meningioma (morphologic abnormality)|secretory meningioma DOID:4588|NCIT:C4718|EFO:1000522|MESH:D008579|UMLS:C1384406 owl:Class MONDO:0019872 biolink:NamedThing distal trisomy 3p Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers. tmpaxzxjjyw_mondo_relaxed.owl telomeric duplication 3p|trisomy 3pter|distal trisomy type 3p|distal duplication 3p SCTID:764519007|Orphanet:96071|ICD10:Q92.3 owl:Class MONDO:0026733 biolink:NamedThing intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE|MRXSHD|Mental Retardation, X-Linked, With Marfanoid Habitus, 2 OMIM:301039 owl:Class MONDO:0007302 biolink:NamedThing cervical hypertrichosis with underlying kyphoscoliosis tmpaxzxjjyw_mondo_relaxed.owl hypertrichosis, posterior cervical, with underlying kyphoscoliosis|cervical hypertrichosis with underlying kyphoscoliosis UMLS:C1861695|OMIM:117850|MESH:C566142 owl:Class HGNC:1742 biolink:NamedThing LRBA tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11115 biolink:NamedThing KDM5D tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007013 biolink:NamedThing vasculogenic impotence Inability to achieve and maintain an erection (erectile dysfunction) due to defects in the arterial blood flow to the penis, defect in venous occlusive function allowing blood drainage (leakage) from the erectile tissue (corpus cavernosum penis), or both. tmpaxzxjjyw_mondo_relaxed.owl EFO:1001234|MESH:D018783|DOID:4762|UMLS:C0243000 owl:Class MONDO:0032716 biolink:NamedThing leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate tmpaxzxjjyw_mondo_relaxed.owl ARLIAK|LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE OMIM:618384 owl:Class MONDO:0012169 biolink:NamedThing premature ovarian failure 3 tmpaxzxjjyw_mondo_relaxed.owl premature ovarian failure 3|premature ovarian failure type 3|Pof3 UMLS:C1837008|OMIM:608996|MESH:C563816 owl:Class MONDO:0015751 biolink:NamedThing craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. tmpaxzxjjyw_mondo_relaxed.owl familial scaphocephaly-radioulnar synostosis syndrome|Berant syndrome|Capra-DeMarco syndrome ICD10:Q87.8|SCTID:720815000|Orphanet:171839|UMLS:C3267187 owl:Class MONDO:0021367 biolink:NamedThing leukemia, myeloid, accelerated-phase The phase of chronic myeloid leukemia following the chronic phase (leukemia, myeloid, chronic-phase), where there are increased systemic symptoms, worsening cytopenias, and refractory leukocytosis. tmpaxzxjjyw_mondo_relaxed.owl Myeloid Leukemia, Chronic, Aggressive Phase|Aggressive-Phase Chronic Myelogenous Leukemia|Aggressive-Phase Chronic Myelocytic Leukemia|Accelerated Phase Chronic Myelocytic Leukemia|Accelerated Phase Chronic Granulocytic Leukemia|Myeloid Leukemia, Chronic, Accelerated Phase|Myelogenous Leukemia, Chronic, Aggressive Phase|Aggressive-Phase CML|CML AGGRESSIVE|Accelerated phase chronic myeloid leukemia|Leukemia, Myelogenous, Aggressive Phase|CML ACCELERATED|Leukemia, Myelogenous, Aggressive-Phase|Myeloid Leukemia, Chronic, Aggressive-Phase|Myelogenous Leukemia, Chronic, Aggressive-Phase|Leukemia, Myeloid, Accelerated-Phase|Accelerated Phase Chronic Myeloid Leukemia|Leukemia, Myeloid, Aggressive-Phase|Accelerated Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive|Aggressive-Phase Chronic Myeloid Leukemia|Leukemia, Myeloid, Accelerated Phase|Myeloid Leukemia, Chronic, Accelerated-Phase|Accelerated Phase Chronic Myelogenous Leukemia|Accelerated Phase CML UMLS:C0023472|EFO:1001755|MESH:D015465 owl:Class MONDO:0600010 biolink:NamedThing moderate hypophosphatasia Moderate hypophosphatasia is a rare, moderate form of hypophosphatasia characterized by defective mineralization of bone and/or teeth, premature loss of teeth with intact roots, and reduced serum alkaline phosphatase (ALP) activity. Individuals can present with this form of hypophosphatasia in infancy, childhood, or adulthood. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0013187 biolink:NamedThing factor XIII, A subunit, deficiency of tmpaxzxjjyw_mondo_relaxed.owl factor XIII, A subunit, deficiency of|hereditary factor XIII alpha subunit deficiency|hereditary factor XIII type II deficiency|hereditary factor XIII A subunit deficiency SCTID:439455002|OMIM:613225|MESH:C567691|UMLS:C2584877|Orphanet:331 owl:Class MONDO:0009187 biolink:NamedThing celiac disease-epilepsy-cerebral calcification syndrome Celiac disease, epilepsy and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic seizures and cerebral calcifications. tmpaxzxjjyw_mondo_relaxed.owl bilateral occipital calcifications with epilepsy|epilepsy occipital calcifications|celiac disease, epilepsy, and cerebral calcification syndrome|epilepsy with bilateral occipital calcifications|CEC|familial unilateral and bilateral occipital calcifications and epilepsy|celiac disease epilepsy occipital calcifications MESH:C535496|OMIM:226810|Orphanet:1459|UMLS:C1856930|GARD:0002166 owl:Class MONDO:0017486 biolink:NamedThing radial hemimelia, unilateral tmpaxzxjjyw_mondo_relaxed.owl radial longitidinal meromelia, unilateral ICD10:Q71.4|Orphanet:295069 owl:Class MONDO:0013233 biolink:NamedThing spondyloepimetaphyseal dysplasia, Handigodu type Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging. tmpaxzxjjyw_mondo_relaxed.owl spondyloepimetaphyseal dysplasia, Handigodu type|Handigodu JOINT disease|Hjd OMIM:613343|Orphanet:99642|UMLS:C3150545|ICD10:Q77.7 owl:Class HGNC:6762 biolink:NamedThing MAD1L1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:18318 biolink:NamedThing ASXL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008735 biolink:NamedThing adrenocortical unresponsiveness to ACTH with postreceptor defect tmpaxzxjjyw_mondo_relaxed.owl familial glucocorticoid deficiency due to defect distal to ACTH receptor|adrenocortical unresponsiveness to ACTH with postreceptor defect OMIM:202355|MESH:C565971|UMLS:C1859971|Orphanet:361 owl:Class MONDO:0000967 biolink:NamedThing conventional lipoma A benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. tmpaxzxjjyw_mondo_relaxed.owl conventional lipoma|classic type lipoma NCIT:C27530|DOID:10193|UMLS:C1333059 owl:Class MONDO:0007638 biolink:NamedThing fucosidase regulator tmpaxzxjjyw_mondo_relaxed.owl fucosidase regulator|Alpha-L-fucosidase regulator OMIM:136830 owl:Class MONDO:0017063 biolink:NamedThing total spina bifida aperta tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268377|UMLS:CN202422 owl:Class MONDO:0030073 biolink:NamedThing Mitchell syndrome tmpaxzxjjyw_mondo_relaxed.owl MITCH|Mitchell syndrome OMIM:618960 owl:Class MONDO:0011175 biolink:NamedThing Friedreich ataxia 2 Any Friedreich ataxia with the locus FRDA2, which has linkage to chromosome 9p23-p11 tmpaxzxjjyw_mondo_relaxed.owl FRDA2|Friedreich ataxia 2 OMIM:601992|UMLS:C1865981|Orphanet:95|MESH:C566594|DOID:0111219 owl:Class MONDO:0001655 biolink:NamedThing dissociated nystagmus tmpaxzxjjyw_mondo_relaxed.owl dissociated nystagmus DOID:13174|ICD10:H55.04|MESH:D009759|UMLS:C0155380|SCTID:9520006|ICD9:379.55 owl:Class MONDO:0033570 biolink:NamedThing combined oxidative phosphorylation deficiency 50 tmpaxzxjjyw_mondo_relaxed.owl COXPD50|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 OMIM:619025 owl:Class MONDO:0043193 biolink:NamedThing richieri-costa guion-almeida cohen syndrome tmpaxzxjjyw_mondo_relaxed.owl overgrowth - craniosynostosis - arthrogryposis|Richieri Costa Guion-Almeida dwarfism|acrofacial dysostosis Richieri Costa Guion-Almeida type|Richieri-costa Guion-Almeida Cohen syndrome GARD:0004712|MESH:C535676|UMLS:C2930979 owl:Class UBERON:0036266 biolink:NamedThing pars interarticularis of vertebra tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015784 biolink:NamedThing Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200366|Orphanet:177904|ICD10:Q87.1 owl:Class MONDO:0100430 biolink:NamedThing fibrotic liver disease A liver disease characterized by the presence of excessive fibrous connective tissue in the liver. tmpaxzxjjyw_mondo_relaxed.owl hepatic fibrosis (disease)|liver fibrosis (disease) http://orcid.org/0000-0001-5208-3432 owl:Class HGNC:8820 biolink:NamedThing PDYN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019979 biolink:NamedThing renal hypoplasia, unilateral Unilateral renal hypoplasia is a form of renal hypoplasia, a renal developmental anomaly in which one kidney is small and has a deficit in the number of nephrons present. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q60.3|Orphanet:97361 owl:Class HGNC:10825 biolink:NamedThing SH3BP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019371 biolink:NamedThing narcolepsy without cataplexy Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1456240|SCTID:91521000119104|ICD10:G47.419|EFO:0005855|ICD10:G47.4|ICD9:347.00|Orphanet:83465|UMLS:CN206062 owl:Class HGNC:15574 biolink:NamedThing RB1CC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009307 biolink:NamedThing granulomatous disease with defect in neutrophil chemotaxis tmpaxzxjjyw_mondo_relaxed.owl granulomatous disease with defect in neutrophil chemotaxis Orphanet:379|MESH:C565534|OMIM:233670|UMLS:C1856261 owl:Class MONDO:0010037 biolink:NamedThing sodium-potassium-ATPase activity of red cell tmpaxzxjjyw_mondo_relaxed.owl sodium-potassium-ATPase activity of red cell|sodium pump sites, number of OMIM:270425 owl:Class MONDO:0023659 biolink:NamedThing developmental and epileptic encephalopathy 96 tmpaxzxjjyw_mondo_relaxed.owl DEE96 OMIM:619340 owl:Class MONDO:0009389 biolink:NamedThing hyperlysinemia due to defect in lysine transport into mitochondria tmpaxzxjjyw_mondo_relaxed.owl hyperlysinemia due to defect in lysine TRANSPORT into mitochondria OMIM:238710|Orphanet:2203|UMLS:C1855927|MESH:C565499 owl:Class MONDO:0011082 biolink:NamedThing oculoauriculofrontonasal syndrome tmpaxzxjjyw_mondo_relaxed.owl oculoauriculofrontonasal syndrome|oculoauriculofrontonasal dysplasia|OAFNS|OCULOAURICULOFRONTONASAL syndrome ICD10:Q87.0|OMIM:601452|MESH:C537865|UMLS:C1832352|Orphanet:398156|GARD:0004031 https://rarediseases.info.nih.gov/diseases/4031/oculoauriculofrontonasal-syndrome owl:Class HGNC:14468 biolink:NamedThing SLC26A8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012800 biolink:NamedThing trichoepithelioma, multiple familial, 2 tmpaxzxjjyw_mondo_relaxed.owl trichoepithelioma, multiple familial, 2|multiple familial trichoepithelioma 2|trichoepithelioma, multiple familial, type 2|trichoepithelioma multiple familial 2|Mft2 Orphanet:867|UMLS:C2677505|GARD:0010373|OMIM:612099|MESH:C567418 https://rarediseases.info.nih.gov/diseases/10373/multiple-familial-trichoepithelioma-2 owl:Class MONDO:0003025 biolink:NamedThing conventional angiosarcoma An angiosarcoma characterized by the presence of malignant spindle endothelial cells. tmpaxzxjjyw_mondo_relaxed.owl conventional angiosarcoma NCIT:C9426|DOID:4512|UMLS:C1333155 owl:Class HGNC:2852 biolink:NamedThing DGKE tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005854 biolink:NamedThing cervical spinal cord ventral column tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022849 biolink:NamedThing congenital stenosis of cervical medullary canal tmpaxzxjjyw_mondo_relaxed.owl GARD:0001504 https://rarediseases.info.nih.gov/diseases/1504/congenital-stenosis-of-cervical-medullary-canal owl:Class MONDO:0010919 biolink:NamedThing varicella, severe recurrent tmpaxzxjjyw_mondo_relaxed.owl varicella, severe recurrent OMIM:600670|UMLS:C1833487|MESH:C563458 owl:Class MONDO:0100020 biolink:NamedThing atypical childhood epilepsy with centrotemporal spikes A childhood-onset epilepsy that is characterized by frequent seizures of multiple types, including nocturnal focal motor and fronto-parietal opercular seizures, and daytime focal motor seizures with negative myoclonus and atypical absence seizures. Centrotemporal sharp waves are seen on EEG. During the phase of the epilepsy when seizures are frequent, neuropsychological deficits and motor impairment may be present. These deficits improve when seizures remit. tmpaxzxjjyw_mondo_relaxed.owl pseudo-Lennox syndrome|atonic-benign childhood epilepsy with centrotemporal spikes|atypical benign partial epilepsy of childhood 2018-06-22 22:43:29+00:00 owl:Class MONDO:0004570 biolink:NamedThing intestinal volvulus Twisting of a loop of bowel that results in intestinal obstruction. tmpaxzxjjyw_mondo_relaxed.owl twist of intestine, bowel, or colon|volvulus|intestinal volvulus EFO:1000989|NCIT:C98963|MESH:D045822|ICD9:560.2|ICD10:K56.2|SCTID:9707006|DOID:8445|UMLS:C0042961 owl:Class MONDO:0007242 biolink:NamedThing butyrylesterase 1 tmpaxzxjjyw_mondo_relaxed.owl butyrylesterase 1|Butyrylesterase type 1 OMIM:113960 owl:Class MONDO:0015835 biolink:NamedThing Bicervical bicornuate uterus and blind hemivagina tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q51.1|Orphanet:180106 owl:Class MONDO:0010839 biolink:NamedThing autosomal dominant congenital benign spinal muscular atrophy Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated. tmpaxzxjjyw_mondo_relaxed.owl congenital benign spinal muscular atrophy with contractures|neuropathy, distal hereditary motor, type 8|neuronopathy, distal hereditary motor, type 8|neuronopathy, distal hereditary motor, type VIII|congenital nonprogressive spinal muscular atrophy|autosomal dominant benign distal spinal muscular atrophy|spinal muscular atrophy, congenital benign, with contractures|HMN8|spinal muscular atrophy, distal, congenital nonprogressive OMIM:600175|ICD10:G12.2|MESH:C563981|Orphanet:1216|SCTID:763067000|DOID:0111215|UMLS:C1838492 owl:Class MONDO:0040700 biolink:NamedThing orbital dermoid cyst A benign congenital tumor that affects the orbit. It is one of the most common orbital tumors. It is characterized by the presence of a cystic structure that is lined by keratinizing epithelium and contains adnexal structures. Complete surgical excision is curative. tmpaxzxjjyw_mondo_relaxed.owl dermoid cyst of orbit|epidermal dermoid cyst|orbit dermoid cyst|dermoid cyst of the orbit NCIT:C4548|SCTID:255002002|UMLS:C0346356 owl:Class MONDO:0100006 biolink:NamedThing secondary mast cell activation syndrome Mast cell activation syndrome where an underlying inflammatory disease is present, often in the form of an IgE-dependent allergy, but there are no KIT-mutated mast cells. tmpaxzxjjyw_mondo_relaxed.owl secondary MACS 2018-07-17 21:45:26+00:00 owl:Class MONDO:0022457 biolink:NamedThing ankyloblepharon filiforme imperforate anus tmpaxzxjjyw_mondo_relaxed.owl GARD:0000697 https://rarediseases.info.nih.gov/diseases/697/ankyloblepharon-filiforme-imperforate-anus owl:Class NCBITaxon:6157 biolink:NamedThing Platyhelminthes tmpaxzxjjyw_mondo_relaxed.owl flatworms|flatworm GC_ID:1 ncbi_taxonomy owl:Class MONDO:0006139 biolink:NamedThing cervical metaplasia Metaplastic changes in the cervical glandular or squamous epithelium. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4056|UMLS:C0281796|EFO:1000168 owl:Class UBERON:0015757 biolink:NamedThing heterogeneous tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004266 biolink:NamedThing anal gland adenocarcinoma An anal adenocarcinoma arising from the epithelium of the anal glands. The overlying anal mucosa does not show evidence of neoplastic changes. tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of anal gland|adenocarcinoma of the anal gland|adenocarcinoma of anal ducts|anal glands adenocarcinoma UMLS:C1266027|NCIT:C5609|ONCOTREE:AGA|DOID:7531|ICDO:8215/3 owl:Class MONDO:0014553 biolink:NamedThing Tenorio syndrome tmpaxzxjjyw_mondo_relaxed.owl Tenorio syndrome|TENORIO syndrome|TNORS|overgrowth, macrocephaly, and intellectual disability syndrome OMIM:616260|UMLS:C4015710 owl:Class MONDO:0019324 biolink:NamedThing pemphigus foliaceus Pemphigus foliaceous is a rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed. tmpaxzxjjyw_mondo_relaxed.owl PF GARD:0007354|HGNC:3050|ICD10:L10.2|UMLS:C0263313|SCTID:35154004|MedDRA:10057069|EFO:0008601|Orphanet:79481 https://rarediseases.info.nih.gov/diseases/7354/pemphigus-foliaceus owl:Class MONDO:0012600 biolink:NamedThing autism, susceptibility to, 9 tmpaxzxjjyw_mondo_relaxed.owl AUTS9|autism, susceptibility to, 9 OMIM:611015 owl:Class MONDO:0009373 biolink:NamedThing seizures-intellectual disability due to hydroxylysinuria syndrome Seizures-intellectual disability due to hydroxylysinuria syndrome is characterised by hydroxylysinuria, myoclonic and motor seizures and intellectual deficit. It has been described in a brother and sister born to consanguineous parents and in one unrelated patient. tmpaxzxjjyw_mondo_relaxed.owl hydroxylysinuria MESH:C565502|OMIM:236900|ICD10:E72.3|UMLS:C1855986|Orphanet:79156 owl:Class MONDO:0019629 biolink:NamedThing sclerocornea A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. tmpaxzxjjyw_mondo_relaxed.owl sclerocornea (disease)|sclerocornea|isolated congenital sclerocornea sclerocornea (disease) Orphanet:91490|OMIM:181700|MESH:C565209|DOID:0060252|ICD10:Q13.3|HP:0000647 owl:Class MONDO:0017546 biolink:NamedThing congenital vertical talus, unilateral tmpaxzxjjyw_mondo_relaxed.owl Orphanet:295201|ICD10:Q66.8 owl:Class MONDO:0023175 biolink:NamedThing Fontaine farriaux blanckaert syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0002358 https://rarediseases.info.nih.gov/diseases/2358/fontaine-farriaux-blanckaert-syndrome owl:Class MONDO:0004008 biolink:NamedThing flat ductal epithelial atypia A breast lesion characterized by the presence of dilated terminal ductal lobular units in which the epithelial lining has been replaced by a single layer of mildly atypical cells, or there is atypical, monotonous epithelial hyperplasia of three to five layers. This lesion relates to columnar cell change with atypia and columnar cell hyperplasia with atypia. tmpaxzxjjyw_mondo_relaxed.owl clinging carcinoma|ductal intraepithelial neoplasia, grade 1A|flat ductal epithelial atypia of the breast|flat ductal epithelial atypia|flat epithelial atypia of the breast|DIN 1A|FEA|flat epithelial atypia DOID:6841|NCIT:C36086|UMLS:C1333620 owl:Class MONDO:0013044 biolink:NamedThing atypical hemolytic-uremic syndrome with thrombomodulin anomaly tmpaxzxjjyw_mondo_relaxed.owl susceptibility to atypical hemolytic uremic syndrome 6|hemolytic uremic syndrome, atypical, susceptibility to, 6|D-HUS with thrombomodulin anomaly|aHUS with thrombomodulin anomaly|Ahus, susceptibility to, 6|hemolytic uremic syndrome, atypical, susceptibility to, type 6|AHUS6|atypical HUS with thrombomodulin anomaly|hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly Orphanet:217023|Orphanet:2134|ICD10:D58.8|OMIM:612926 owl:Class MONDO:0008573 biolink:NamedThing tibial torsion, bilateral medial tmpaxzxjjyw_mondo_relaxed.owl tibial torsion, bilateral medial OMIM:188800|UMLS:C1861097|MESH:C566045 owl:Class MONDO:0100013 biolink:NamedThing paratenonitis with tendinosis Paratenonitis associated with intratendinous degeneration. tmpaxzxjjyw_mondo_relaxed.owl 2018-07-17 16:02:57+00:00 owl:Class MONDO:0006977 biolink:NamedThing spermatocele A benign testicular cyst that is located in the epididymis, and which contains serous fluid, lymphocytes, spermatozoa, and debris. tmpaxzxjjyw_mondo_relaxed.owl DOID:11997|ICD10:N43.40|NCIT:C120909|EFO:1001189|ICD10:N43.4|ICD10:N50.3|UMLS:C0037859|MESH:D013088|MedDRA:10041490|ICD9:608.1|NCIT:C3865|SCTID:49263001 owl:Class CHEBI:64459 biolink:NamedThing biaryl An organic aromatic compound whose structure contains two aromatic rings or ring systems, joined to each other by a single bond. tmpaxzxjjyw_mondo_relaxed.owl biaryls owl:Class MONDO:0022803 biolink:NamedThing coloboma porencephaly hydronephrosis tmpaxzxjjyw_mondo_relaxed.owl GARD:0001439 https://rarediseases.info.nih.gov/diseases/1439/coloboma-porencephaly-hydronephrosis owl:Class MONDO:0030905 biolink:NamedThing hearing loss, autosomal recessive 117 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 117|DFNB117 OMIM:619174 owl:Class MONDO:0016306 biolink:NamedThing Niemann-Pick disease type C, severe perinatal form tmpaxzxjjyw_mondo_relaxed.owl ICD10:E75.2|Orphanet:216972|UMLS:CN201112 owl:Class NCBITaxon:2845253 biolink:NamedThing Treponemataceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0032756 biolink:NamedThing long qt syndrome 8 tmpaxzxjjyw_mondo_relaxed.owl LQT8|LONG QT SYNDROME 8 OMIM:618447 owl:Class HGNC:6158 biolink:NamedThing ITGB4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015807 biolink:NamedThing myopic macular degeneration tmpaxzxjjyw_mondo_relaxed.owl myopic maculopathy SCTID:312898002|UMLS:C0730271|EFO:0009201|ICD10:H35.3|Orphanet:178493 owl:Class MONDO:0011080 biolink:NamedThing progressive deafness with stapes fixation Stapes fixation (stapedovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease). tmpaxzxjjyw_mondo_relaxed.owl deafness, progressive, with stapes fixation|Thies-Reis syndrome|Thies Reis syndrome|Stapedo-vestibular ankylosis MESH:C563316|SCTID:715529009|OMIM:601449|ICD10:H74.3|Orphanet:3235|GARD:0005170|UMLS:C1832354 https://rarediseases.info.nih.gov/diseases/5170/progressive-deafness-with-stapes-fixation owl:Class HP:0012072 biolink:NamedThing Aciduria Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration. tmpaxzxjjyw_mondo_relaxed.owl Acidic urine UMLS:C0278026|SNOMEDCT_US:21806007 human_phenotype owl:Class MONDO:0000684 biolink:NamedThing verbal auditory agnosia An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060154 owl:Class MONDO:0011440 biolink:NamedThing hypertension, essential, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl Hyt2|hypertension, essential, susceptibility to, 2|hypertension, essential, susceptibility to, type 2 OMIM:604329 owl:Class MONDO:0025457 biolink:NamedThing pulmonary adenomatosis, ovine A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by jaagsiekte sheep retrovirus. tmpaxzxjjyw_mondo_relaxed.owl Ovine pulmonary adenomatosis|Ovine pulmonary Adenomatoses|adenomatosis, Ovine pulmonary|adenomatosis, pulmonary Ovine|pulmonary Ovine Adenomatoses|Ovine Adenomatoses, pulmonary|adenomatosis, pulmonary, Ovine|Adenomatoses, Ovine pulmonary|carcinoma, Ovine pulmonary|Ovine pulmonary carcinomas|carcinomas, Ovine pulmonary|Ovine adenomatosis, pulmonary|Jaagsiekte|pulmonary Ovine adenomatosis|pulmonary carcinomas, Ovine|Ovine pulmonary carcinoma|pulmonary carcinoma, Ovine|Adenomatoses, pulmonary Ovine|pulmonary Adenomatoses, Ovine UMLS:C0034049|MESH:D011648 owl:Class MONDO:0011983 biolink:NamedThing autoimmune thyroid disease, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl autoimmune thyroid disease, susceptibility to, 4|autoimmune thyroid disease, susceptibility to, type 4|AITD4 UMLS:C1842443|OMIM:608176 owl:Class NCBITaxon:1903414 biolink:NamedThing Morganellaceae tmpaxzxjjyw_mondo_relaxed.owl Morganellaceae Adeolu et al. 2016 GC_ID:11|PMID:27620848 ncbi_taxonomy owl:Class MONDO:0022417 biolink:NamedThing alopecia congenita keratosis palmoplantaris tmpaxzxjjyw_mondo_relaxed.owl alopecia congenita with hyperkeratosis of the palms and soles|alopecia congenita with keratosis palmoplantaris MESH:C537050 owl:Class MONDO:0001925 biolink:NamedThing retinal dystrophy in systemic or cerebroretinal lipidoses tmpaxzxjjyw_mondo_relaxed.owl ICD9:362.71|DOID:14253 owl:Class MONDO:0010235 biolink:NamedThing X-linked intellectual disability-psychosis-macroorchidism syndrome tmpaxzxjjyw_mondo_relaxed.owl intellectual deficit, X-linked - psychosis - macroorchidism|intellectual disability, X-linked, with spasticity|X-linked intellectual disability with spasticity|intellectual disability, X-linked 79|intellectual disability, X-linked 16|mental retardation, X-linked 16|Lindsay-Burn syndrome|mental retardation, X-linked, with spasticity|mental retardation, X-linked, syndromic 13|PPM-X|intellectual disability with psychosis, pyramidal signs, and macroorchidism|mental retardation psychosis macroorchidism|mental retardation, X-linked, syndromic type 13|X-linked mental retardation with spasticity|PPM-X syndrome|intellectual disability, X-linked, syndromic 13|MRXS13|intellectual disability, X-linked, syndromic type 13|X-linked mental retardation 79|X-linked intellectual disability 79|mental retardation with psychosis, pyramidal signs, and macroorchidism|intellectual disability psychosis macroorchidism|mental retardation, X-linked 79 Orphanet:3077|ICD9:758.89|GARD:0003506|SCTID:702356009|DOID:0060827|ICD10:F71.1|OMIM:300055 https://rarediseases.info.nih.gov/diseases/3506/ppm-x-syndrome owl:Class MONDO:0011898 biolink:NamedThing Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive|CMT2 with vocal cord paresis, autosomal recessive|Charcot-Marie-Tooth disease, type 4A, axonal form|Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive UMLS:C1843183|Orphanet:101097|OMIM:607706 owl:Class HP:0010468 biolink:NamedThing Aplasia/Hypoplasia of the testes Absence or underdevelopment of the testes. tmpaxzxjjyw_mondo_relaxed.owl Absent/underdeveloped testes|Absent/small testes UMLS:C4023817 peter 2009-09-15T09:28:46Z human_phenotype owl:Class HGNC:18171 biolink:NamedThing CD244 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017116 biolink:NamedThing congenital communicating hydrocephalus tmpaxzxjjyw_mondo_relaxed.owl congenital non-obstructive hydrocephalus Orphanet:269505|ICD10:Q03.8 owl:Class MONDO:0004488 biolink:NamedThing cervical atypical polypoid adenomyoma An adenomyoma that arises from the cervix and is characterized by the presence of a glandular component exhibiting architectural complexity. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516409|NCIT:C40234|DOID:8179 owl:Class MONDO:0001772 biolink:NamedThing ulcer of anus and rectum tmpaxzxjjyw_mondo_relaxed.owl anal and rectal ulcer ICD10:K62.6|DOID:13662|ICD9:569.41 owl:Class MONDO:0018193 biolink:NamedThing testicular teratoma tmpaxzxjjyw_mondo_relaxed.owl teratoma of the testis|testicular teratoma|teratoma of testis|testicular teratoma (disease) testicular teratoma (disease) ICD10:C62.9|Orphanet:363483|HP:0100616|OMIM:273300|EFO:1000573|NCIT:C3877 owl:Class MONDO:0010073 biolink:NamedThing spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit. tmpaxzxjjyw_mondo_relaxed.owl Sedt with mental retardation|Sedt with intellectual disability|spondyloepiphyseal dysplasia tarda with intellectual disability|spondyloepiphyseal dysplasia tarda with mental retardation UMLS:C1849053|Orphanet:163665|OMIM:271620|ICD10:Q77.7|MESH:C564796|SCTID:719202006 owl:Class MONDO:0024345 biolink:NamedThing pityriasis streptogenes tmpaxzxjjyw_mondo_relaxed.owl pityriasis streptogenes ICD9:696.5|SCTID:200994002 owl:Class HGNC:9535 biolink:NamedThing PSMA6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0012393 biolink:NamedThing Allergy An allergy is an immune response or reaction to substances that are usually not harmful. tmpaxzxjjyw_mondo_relaxed.owl Allergy UMLS:C1527304|SNOMEDCT_US:419076005|MSH:D006967 peter 2013-11-07T07:47:22Z human_phenotype owl:Class MONDO:0007905 biolink:NamedThing lip, hamartomatous tmpaxzxjjyw_mondo_relaxed.owl lip, hamartomatous|enlargement of Lower lip UMLS:C1835395|MESH:C563621|OMIM:151640 owl:Class NCBITaxon:10911 biolink:NamedThing Coltivirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:6026 biolink:NamedThing CXCR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060715 biolink:NamedThing tumoral calcinosis, hyperphosphatemic, familial, 3 tmpaxzxjjyw_mondo_relaxed.owl tumoral calcinosis, hyperphosphatemic, familial, 3|HFTC3 OMIM:617994 owl:Class MONDO:0007371 biolink:NamedThing cornea guttata with anterior polar cataracts tmpaxzxjjyw_mondo_relaxed.owl cornea guttata with anterior polar cataracts|familial congenital cornea guttata with anterior polar cataracts (type)|cornea guttata with anterior polar cataract MESH:C535471|GARD:0009507|UMLS:C1852558|OMIM:121390 owl:Class MONDO:0019579 biolink:NamedThing discrete papular lichen myxedematosus Discrete papular lichen myxedematosus is a rare chronic, slowly progressive form of localized lichen myxedematosus characterized by the development of a few to multiple small symmetrical skin-coloured mucinous papules on the limbs and trunk. tmpaxzxjjyw_mondo_relaxed.owl SCTID:717258005|ICD10:L98.5|UMLS:C4273967|Orphanet:90394 owl:Class ECTO:7000018 biolink:NamedThing exposure to rock A exposure event involving the interaction of an exposure receptor to rock. tmpaxzxjjyw_mondo_relaxed.owl rock exposure owl:Class MONDO:0012033 biolink:NamedThing bradyopsia Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. tmpaxzxjjyw_mondo_relaxed.owl prolonged electroretinal response suppression|bradyopsia|PERRS Orphanet:75374|ICD10:H53.8|SCTID:711163009|OMIM:608415|ICD9:368.8|GARD:0012299|MESH:C564243|DOID:0050335 https://rarediseases.info.nih.gov/diseases/12299/bradyopsia owl:Class MONDO:0008624 biolink:NamedThing Upington disease Upington disease is characterised by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl familial dyschondroplasia|Perthes-like hip disease, enchondromata, and Ecchondromata|Upington disease|hip dysplasia-enchondromata-ecchondroma syndrome ICD10:M91.8|GARD:0005421|SCTID:719041000|UMLS:C1860596|Orphanet:3408|MESH:C536472|OMIM:191520 https://rarediseases.info.nih.gov/diseases/5421/upington-disease owl:Class MONDO:0033046 biolink:NamedThing Meier-Gorlin syndrome 8 tmpaxzxjjyw_mondo_relaxed.owl MGORS8|Meier-Gorlin syndrome 8 OMIM:617564|UMLS:C4479655|DOID:0080255 owl:Class MONDO:0005272 biolink:NamedThing refractory anemia A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl RA|aregenerative anemia SCTID:109996008|EFO:0003802|MedDRA:10038269|ICD9:238.72|Orphanet:98826|UMLS:C0002893|ICD10:D46.7|ICDO:9980/3|MESH:D000753|NCIT:C2872 owl:Class MONDO:0032648 biolink:NamedThing mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations tmpaxzxjjyw_mondo_relaxed.owl MCCCHCM|MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS OMIM:618273|DOID:0111403 owl:Class MONDO:0022817 biolink:NamedThing congenital amputation tmpaxzxjjyw_mondo_relaxed.owl GARD:0001471 https://rarediseases.info.nih.gov/diseases/1471/congenital-amputation owl:Class MONDO:0020407 biolink:NamedThing complete atrioventricular canal-ventricle hypoplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl CAVC-ventricle hypoplasia syndrome|CAVC type B|complete atrioventricular canal type B Orphanet:99067|UMLS:CN207279|ICD10:Q21.2 owl:Class MONDO:0015347 biolink:NamedThing multicentric reticulohistiocytosis Multicentric reticulohistiocytosis (MRH) is a rare non-Langerhans cell histiocytosis characterized by the association of specific nodular skin lesions and destructive arthritis. tmpaxzxjjyw_mondo_relaxed.owl lipoid dermatoarthritis|giant cell histiocytomatosis|multicentric reticulohistiocytosis NCIT:C27896|MedDRA:10070595|ICD10:D76.3|ICD10:E78.81|UMLS:C0311284|SCTID:84241008|GARD:0007103|ICD9:272.8|Orphanet:139436|DOID:11824|ICD9:713.0 https://rarediseases.info.nih.gov/diseases/7103/multicentric-reticulohistiocytosis owl:Class MONDO:0010479 biolink:NamedThing Charcot-Marie-Tooth disease X-linked dominant 6 X-linked Charcot-Marie-Tooth disease type 6 is a rare, genetic, principally axonal, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset of slowly progressive, moderate to severe, distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus, clawed toes), absent ankle reflexes and gait abnormalities (steppage gait). Females are usually asymptomatic or only present mild manifestations (mild postural hand tremor, mild wasting of hand intrinsic muscles). tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease, X-linked dominant, type 6|Charcot-Marie-Tooth disease X-linked dominant type 6|Charcot-Marie-Tooth neuropathy X-linked dominant 6|Charcot-Marie-Tooth disease, X-linked dominant, 6|Charcot-Marie-Tooth neuropathy, X-linked dominant, 6|X-linked Charcot-Marie-Tooth disease type 6|CMTX6|CMT6X Orphanet:352675|DOID:0110207|OMIM:300905|GARD:0012445|UMLS:C3806702|SCTID:763347000|ICD10:G60.0 Editor note: check CMT6X synonym, this implies it is a subtype of CMT6 owl:Class MONDO:0012572 biolink:NamedThing Sakoda complex tmpaxzxjjyw_mondo_relaxed.owl sphenoethmoidal encephalomeningocele agenesis of the corpus callosum and cleft lip/palate|Sakoda complex|sphenoethmoidal encephalomeningocele, agenesis of the corpus callosum, and cleft Lip/palate|Sakoda spectrum OMIM:610871|MESH:C567055|GARD:0009695|UMLS:C1970485 https://rarediseases.info.nih.gov/diseases/9695/sakoda-complex owl:Class NCBITaxon:42414 biolink:NamedThing Sigmodon tmpaxzxjjyw_mondo_relaxed.owl cotton rats GC_ID:1 ncbi_taxonomy owl:Class MONDO:0002125 biolink:NamedThing status epilepticus A life-threatening situation in which the brain is in a continuous state of seizure. tmpaxzxjjyw_mondo_relaxed.owl grand mal status|SE|generalized convulsive status epilepticus|GCSE ICD10:G41|UMLS:C0038220|NCIT:C85079|GARD:0010191|MESH:D013226|SCTID:230456007|EFO:0008526|DOID:1824 https://rarediseases.info.nih.gov/diseases/10191/status-epilepticus owl:Class NCBITaxon:58262 biolink:NamedThing Culicoidini tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HP:0000834 biolink:NamedThing Abnormality of the adrenal glands Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. tmpaxzxjjyw_mondo_relaxed.owl Adrenal abnormalities|Adrenal gland disease SNOMEDCT_US:30171000|MSH:D000307|UMLS:C4021794|UMLS:C0001621 human_phenotype owl:Class MONDO:0030361 biolink:NamedThing Aicardi-Goutieres syndrome 8 tmpaxzxjjyw_mondo_relaxed.owl Aicardi-Goutieres syndrome 8|AGS8 OMIM:619486 owl:Class HGNC:16973 biolink:NamedThing PPP1R17 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1869 biolink:NamedThing CETP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001801 biolink:NamedThing staphyloma posticum tmpaxzxjjyw_mondo_relaxed.owl SCTID:87819007|DOID:13789|UMLS:C0155360|ICD10:H15.83|ICD9:379.12 owl:Class CL:0002258 biolink:NamedThing thyroid follicular cell A cell type that varies from squamous to columnar, depending on their activity with microvillus directed luminally. This cell produces and secretes thyroid hormones. tmpaxzxjjyw_mondo_relaxed.owl follicular cell of thyroid gland|principal cell of thyroid gland|thyroid gland follicular cell FMA:68782|CALOHA:TS-1285|BTO:0003736 tmeehan 2010-09-08T01:50:08Z cell owl:Class MONDO:0043120 biolink:NamedThing male pseudohermaphroditism due to defective lh molecule tmpaxzxjjyw_mondo_relaxed.owl GARD:0003356|MESH:C535692|UMLS:C1835303|HGNC:6584 owl:Class MONDO:0002978 biolink:NamedThing orbit alveolar rhabdomyosarcoma A malignant mesenchymal neoplasm that arises in the orbit. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma. tmpaxzxjjyw_mondo_relaxed.owl alveolar rhabdomyosarcoma of orbit|alveolar rhabdomyosarcoma of the orbit NCIT:C6247|DOID:4384|UMLS:C1335126 owl:Class MONDO:0011652 biolink:NamedThing Phelan-McDermid syndrome Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. tmpaxzxjjyw_mondo_relaxed.owl deletion 22q13.3 syndrome|monosomy 22q13|telomeric 22Q13 monosomy syndrome|Phelan-McDermid syndrome|Phelan McDermid syndrome|chromosome 22Q13.3 deletion syndrome|22q13 deletion|22q13.3 deletion syndrome|PHELAN-McDermid syndrome|monosomy type 22q13|PHMDS OMIM:606232|ICD9:758.39|DOID:0080354|SCTID:699310000|MESH:C536801|ICD10:Q93.5|UMLS:C1853490|GARD:0010130|Orphanet:48652 owl:Class MONDO:0009842 biolink:NamedThing Pelger-Huet-like anomaly and episodic fever with abdominal pain tmpaxzxjjyw_mondo_relaxed.owl Pelger-Huet-like anomaly and episodic fever with abdominal pain OMIM:260570|MESH:C564899|UMLS:C1850054 owl:Class MONDO:0011606 biolink:NamedThing baby rattle pelvis dysplasia tmpaxzxjjyw_mondo_relaxed.owl baby rattle pelvis dysplasia|baby rattle pelvic dysplasia MESH:C565282|UMLS:C1853911|OMIM:605838|MESH:C537794|GARD:0009289 https://rarediseases.info.nih.gov/diseases/9289/baby-rattle-pelvic-dysplasia owl:Class MONDO:0006164 biolink:NamedThing colorectal sessile serrated adenoma/polyp A polyp that arises from the colon or rectum. It is characterized by the presence of serrated glands and the absence of generalized dysplasia. Some authors have suggested that it is a precursor lesion for some colorectal adenocarcinomas with microsatellite instability. tmpaxzxjjyw_mondo_relaxed.owl colorectal mixed hyperplastic adenomatous polyp/serrated adenoma|colorectal sessile serrated adenoma/polyp|colorectal sessile serrated adenoma|colorectal sessile serrated polyp|colorectal SSA/P|colorectal SSP|colorectal mixed hyperplastic adenomatous polyp|colorectal SSA NCIT:C83176|EFO:1000197|UMLS:C2826783 owl:Class MONDO:0027048 biolink:NamedThing deafness, Y-linked 2 tmpaxzxjjyw_mondo_relaxed.owl DFNY2 OMIM:400047|DOID:0111758 owl:Class MONDO:0006094 biolink:NamedThing Askin tumor A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma. tmpaxzxjjyw_mondo_relaxed.owl peripheral neuroectodermal tumor of thoracopulmonary region|Askin tumor|Askin's tumor|small cell tumor of thoracopulmonary region|PNET of thoracopulmonary region UMLS:C0877849|NCIT:C7542|EFO:1000095|DOID:0050608|ICDO:9365/3 Editor note: in DO this is classified as Ewing sarcoma but we follow NCIT in placing as sibling owl:Class MONDO:0012773 biolink:NamedThing Hunter-Macdonald syndrome tmpaxzxjjyw_mondo_relaxed.owl Hunter-Macdonald syndrome UMLS:C2677745|OMIM:611962|MESH:C567445 owl:Class MONDO:0024527 biolink:NamedThing glomerulopathy with fibronectin deposits 1 tmpaxzxjjyw_mondo_relaxed.owl GFND1|lobular glomerulopathy, familial|glomerulopathy with fibronectin deposits 1|glomerulopathy with giant fibrillar deposits OMIM:137950|Orphanet:84090 owl:Class MONDO:0011084 biolink:NamedThing psoriasis 3, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl psoriasis 3, susceptibility to|PSORS3 DOID:0111283|OMIM:601454 owl:Class NCBITaxon:77643 biolink:NamedThing Mycobacterium tuberculosis complex tmpaxzxjjyw_mondo_relaxed.owl Mycobacterium complex PMID:29205127|GC_ID:11|PMID:15243089 ncbi_taxonomy owl:Class MONDO:0015813 biolink:NamedThing primary cutaneous marginal zone B-cell lymphoma Extranodal lymphoma of lymphoid tissue associated with mucosa that is in contact with exogenous antigens. Many of the sites of these lymphomas, such as the stomach, salivary gland, and thyroid, are normally devoid of lymphoid tissue. They acquire mucosa-associated lymphoid tissue (malt) type as a result of an immunologically mediated disorder. tmpaxzxjjyw_mondo_relaxed.owl Primary cutaneous marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue|cutaneous Immunocytoma|skin-associated lymphoid tissue lymphoma|C-MALT|Primary cutaneous marginal zone lymphoma of mucosa-associated lymphoid tissue|PCMZL|salt lymphoma|marginal zone B cell lymphoma of the skin|Primary cutaneous marginal zone B cell lymphoma of mucosa-associated lymphoid tissue|marginal zone B cell lymphoma of skin ICD10:C83.0|SCTID:404140004|Orphanet:178536|UMLS:C1275321|NCIT:C7230 owl:Class MONDO:0001415 biolink:NamedThing atrophy of testis Loss of testicular volume. tmpaxzxjjyw_mondo_relaxed.owl testicular atrophy SCTID:17585008|ICD10:N50.0|UMLS:C0156312|DOID:11994|ICD9:608.3|NCIT:C123259 owl:Class MONDO:0010182 biolink:NamedThing hypercarotenemia and vitamin A deficiency, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl hypercarotenemia and vitamin A deficiency, autosomal recessive OMIM:277350|UMLS:C2678266|Orphanet:199285|MESH:C567486 owl:Class MONDO:0010289 biolink:NamedThing intellectual disability, X-linked 72 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked 72|intellectual disability, X-linked type 72|mental retardation, X-linked type 72|MRX72|intellectual disability, X-linked 72 MESH:C564547|UMLS:C1846038|OMIM:300271|Orphanet:777 owl:Class UBERON:0000366 biolink:NamedThing flexor muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004418 biolink:NamedThing microcystic variant infiltrating bladder urothelial carcinoma tmpaxzxjjyw_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, microcystic variant NCIT:C39820|UMLS:C1512740|DOID:7971 owl:Class UBERON:0011845 biolink:NamedThing duct of sebaceous gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008946 biolink:NamedThing cerebral angiopathy, dysphoric tmpaxzxjjyw_mondo_relaxed.owl cerebral angiopathy, dysphoric UMLS:C1859283|MESH:C565864|OMIM:213500 owl:Class MONDO:0016454 biolink:NamedThing severe early-onset axonal neuropathy due to NEFL deficiency Charcot-Marie-Tooth disease type 2B5 is a rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease type 2B5|SEOAN due to NEFL deficiency|severe early-onset axonal neuropathy due to light neurofilament subunit deficiency|autosomal recessive Charcot-Marie-Tooth disease type 2B5|AR-CMT2B5 Orphanet:228374|ICD10:G60.0 owl:Class MONDO:0008455 biolink:NamedThing spinal muscular atrophy, segmental tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy, segmental UMLS:C1866774|OMIM:183020|MESH:C566670 owl:Class MONDO:0010154 biolink:NamedThing trigonocephaly-bifid nose-acral anomalies syndrome Trigonocephaly-bifid nose-acral anomalies syndrome is characterized by trigonocephaly, brachycephaly, bulbous nose (bifid at the tip), micrognathia, macrostomia, hypotonia and relatively broad metatarsals and phalanges. tmpaxzxjjyw_mondo_relaxed.owl trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia|trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet|trigonocephaly - bifid nose - acral anomalies OMIM:275595|Orphanet:3368|UMLS:C1848743|GARD:0005277|GARD:0005126|ICD10:Q87.0|MESH:C564759 owl:Class MONDO:0006983 biolink:NamedThing subclavian steal syndrome An uncommon neurovascular condition seen with exertion of the upper extremity. It is usually caused by atherosclerotic stenosis or occlusion of the subclavian artery proximal to the origin of the vertebral artery. In order to maintain adequate perfusion of the arm during exercise on the affected side, the narrowed subclavian artery siphons off retrograde blood flow from the ipsilateral vertebral artery. This is possible due to lower blood pressure distal to the site of narrowing and collateral circulation through the circle of Willis. Affected individuals may remain asymptomatic until the oxygen demand generated from upper extremity exercise requires a large enough compensatory volume of blood to be diverted from the vertebral artery to provoke vertebrobasilar insufficiency and its accompanying neurological sequelae. Presenting clinical signs may include pain or numbness of the affected arm (with diminished pulses and a brachial systolic blood pressure differential of greater than 20 mmHg as compared to the opposite arm), vertigo, tinnitus, dysarthria, diplopia and syncope. Notably, unlike cerebral infarction, the clinical course does not lead to chronic neurologic disability. Prognosis for recovery of normal anterograde circulation is favorable following endovascular or surgical intervention. tmpaxzxjjyw_mondo_relaxed.owl subclavian artery stenosis|subclavian steal steno-occlusive disease|subclavian steal phenomenon ICD9:435.2|MESH:D013349|EFO:1001195|MedDRA:10042335|DOID:13002|SCTID:15258001|UMLS:C0038531|NCIT:C35044 owl:Class MONDO:0025100 biolink:NamedThing mastitis, bovine Inflammation of the udder in cows. tmpaxzxjjyw_mondo_relaxed.owl Mastitides, bovine|bovine Mastitides|bovine mastitis UMLS:C0024895|EFO:1001765|MESH:D008414 owl:Class MONDO:0000460 biolink:NamedThing neural glioblastoma A molecular subtype of glioblastoma characterized by the expression of the neural markers NEFL, GABRA1, SYT1, and SLC12A5. tmpaxzxjjyw_mondo_relaxed.owl glioblastoma neural subtype|neural glioblastoma UMLS:C3828832|DOID:0050806|NCIT:C111693 owl:Class MONDO:0044318 biolink:NamedThing intellectual developmental disorder with gastrointestinal difficulties and high pain threshold IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}). tmpaxzxjjyw_mondo_relaxed.owl intellectual developmental disorder with gastrointestinal difficulties and high pain threshold|IDDGIP OMIM:617450|UMLS:C4479517 owl:Class MONDO:0011077 biolink:NamedThing microcephaly, corpus callosum dysgenesis, and cleft lip/palate tmpaxzxjjyw_mondo_relaxed.owl microcephaly, corpus callosum dysgenesis and cleft lip-palate|microcephaly, corpus callosum dysgenesis, and cleft lip/palate|microcephaly, facial clefting, and preaxial polydactyly|corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation OMIM:601420|MESH:C537547|UMLS:C1832369|GARD:0003614 https://rarediseases.info.nih.gov/diseases/3614/microcephaly-corpus-callosum-dysgenesis-and-cleft-lip-palate owl:Class NCBITaxon:41165 biolink:NamedThing Schizopyrenida tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020489 biolink:NamedThing familial hyperreninemic hypoaldosteronism type 1 tmpaxzxjjyw_mondo_relaxed.owl 18-hydroxylase deficiency|corticosterone methyloxidase deficiency type I|18-oxidase deficiency|aldosterone synthase deficiency|CMO I|FHHA1|CMO II OMIM:203400|UMLS:C4289986|Orphanet:99763|DOID:0080626|OMIM:610600|ICD10:E27.4 owl:Class HGNC:19693 biolink:NamedThing COQ4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013100 biolink:NamedThing atrial fibrillation, familial, 8 tmpaxzxjjyw_mondo_relaxed.owl ATFB8|atrial fibrillation, familial, 8 UMLS:C2751607|MESH:C567802|Orphanet:334|OMIM:613055 owl:Class HP:0001274 biolink:NamedThing Agenesis of corpus callosum Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. tmpaxzxjjyw_mondo_relaxed.owl Callosal agenesis|Dysplastic or absent corpus callosum|Absence of corpus callosum|Agenesis of the corpus callosum|Absent corpus callosum|Corpus callosum agenesis MSH:D061085|Fyler:4321|SNOMEDCT_US:5102002|UMLS:C0175754 HP:0006800 human_phenotype owl:Class MONDO:0002341 biolink:NamedThing granulomatous angiitis Inflammation of the arteries that is characterized by the presence of granulomas. tmpaxzxjjyw_mondo_relaxed.owl Granulomatous arteritis MESH:D020293|NCIT:C34653|DOID:2555|UMLS:C0018202 owl:Class MONDO:0017697 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form tmpaxzxjjyw_mondo_relaxed.owl glycogenosis type IV, fatal perinatal neuromuscular form|GBE deficiency, fatal perinatal neuromuscular form|GSDIV, fatal perinatal neuromuscular form|GSD type 4, fatal perinatal neuromuscular form|GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogen storage disease type IV, fatal perinatal neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type 4, fatal perinatal neuromuscular form|glycogen storage disease type 4, fatal perinatal neuromuscular form OMIM:232500|ICD10:E74.0|Orphanet:308655|UMLS:C1856303 owl:Class MONDO:0006863 biolink:NamedThing myxosarcoma An infiltrating malignant soft tissue neoplasm characterized by the presence of immature undifferentiated cells and abundant myxoid stroma formation. tmpaxzxjjyw_mondo_relaxed.owl myxosarcoma, malignant|myxosarcoma (morphologic abnormality)|myxosarcoma ICDO:8840/3|MESH:D009236|EFO:1001056|UMLS:C0027155|NCIT:C3255|DOID:4136 owl:Class HGNC:7097 biolink:NamedThing MIF tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010463 biolink:NamedThing X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males. tmpaxzxjjyw_mondo_relaxed.owl chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia|X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome UMLS:C3275476|Orphanet:163966|ICD10:Q87.8|OMIM:300863|SCTID:719837003 owl:Class MONDO:0009182 biolink:NamedThing junctional epidermolysis bullosa Herlitz type Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB) characterized by blisters and extensive erosions, localized to the skin and mucous membranes. tmpaxzxjjyw_mondo_relaxed.owl Herlitz-Pearson-type epidermolysis bullosa|epidermolysis bullosa Junctionalis, Herlitz type|epidermolysis bullosa letalis|junctional epidermolysis bullosa, Herlitz type|junctional epidermolysis bullosa, Herlitz-Pearson type|junctional epidermolysis bullosa generalisata gravis|epidermolysis bullosa, junctional, Herlitz-Pearson type|JEB, generalized severe|JEB-Herlitz type|JEB-H|Herlitz-Pearson type epidermolysis bullosa|epidermolysis bullosa, junctional, Herlitz type|junctional epidermolysis bullosa, generalized severe|Herlitz type epidermolysis bullosa junctionalis SCTID:400140006|ICD10:Q81.1|Orphanet:79404|DOID:0060737|GARD:0002153|OMIM:226700 https://rarediseases.info.nih.gov/diseases/2153/junctional-epidermolysis-bullosa-herlitz-type owl:Class MONDO:0032665 biolink:NamedThing intellectual developmental disorder, autosomal recessive 68 tmpaxzxjjyw_mondo_relaxed.owl Mental Retardation, Autosomal Recessive 68|INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68|MRT68 OMIM:618302 owl:Class MONDO:0012696 biolink:NamedThing otosclerosis 4 tmpaxzxjjyw_mondo_relaxed.owl OTSC4|otosclerosis 4 MESH:C566914|UMLS:C1969046|OMIM:611571 owl:Class MONDO:0022739 biolink:NamedThing Christian demyer franken syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001315 https://rarediseases.info.nih.gov/diseases/1315/christian-demyer-franken-syndrome owl:Class MONDO:0041114 biolink:NamedThing peripheral ischemia Deficient blood distribution to the limbs caused by narrowing or obstruction of the lumen of the peripheral arteries. tmpaxzxjjyw_mondo_relaxed.owl peripheral ischemic vascular disease|peripheral ischemia SCTID:233958001 owl:Class MONDO:0006444 biolink:NamedThing teratoma with malignant transformation A teratoma which is characterized by morphologic transformation to malignancy and an aggressive clinical course. The malignant component most often is sarcomatous or carcinomatous. tmpaxzxjjyw_mondo_relaxed.owl teratoma with malignant transformation|TMT|dermoid cyst with malignant transformation EFO:1000563|GARD:0010646|ONCOTREE:TMT|ICDO:9084/3|UMLS:C0334523|NCIT:C4289 https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation owl:Class MONDO:0010642 biolink:NamedThing Lesch-Nyhan phenotype with normal HGPRT tmpaxzxjjyw_mondo_relaxed.owl Lesch-Nyhan phenotype with normal HGPRT Orphanet:510|OMIM:308950 owl:Class MONDO:0023178 biolink:NamedThing fragile X syndrome type 1 tmpaxzxjjyw_mondo_relaxed.owl GARD:0002366 https://rarediseases.info.nih.gov/diseases/2366/fragile-x-syndrome-type-1 owl:Class HGNC:2171 biolink:NamedThing CNTN1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003867 biolink:NamedThing diffuse meningeal melanocytosis A diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. Cells may spread into the Virchow-Robin spaces without frank invasion of the brain. Diffuse melanocytosis carries a poor prognosis even in the absence of histologic malignancy. (WHO) tmpaxzxjjyw_mondo_relaxed.owl diffuse melanocytosis|diffuse melanosis|diffuse melanocytosis (morphologic abnormality)|meningeal melanocytosis DOID:6379|ICDO:8728/0|UMLS:C1266112|EFO:1000216|NCIT:C6890 owl:Class MONDO:0019871 biolink:NamedThing distal trisomy 2p Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (incl. high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies. tmpaxzxjjyw_mondo_relaxed.owl distal duplication 2p|trisomy 2pter|telomeric duplication 2p|distal trisomy type 2p SCTID:764518004|ICD10:Q92.3|Orphanet:96070 owl:Class MONDO:0020482 biolink:NamedThing myotonia permanens Myotonia permanens is a very rare, persistent and more severe form of potassium-aggravated myotonia (PAM). tmpaxzxjjyw_mondo_relaxed.owl ICD10:G71.1|OMIM:608390|Orphanet:99735|SCTID:715789009|UMLS:CN207354 owl:Class HGNC:15626 biolink:NamedThing FCGR2C tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003435 biolink:NamedThing microcystic adenoma A benign epithelial neoplasm characterized by a microcystic pattern. The cystic spaces are lined by small cuboidal cells without evidence of significant cytologic atypia. tmpaxzxjjyw_mondo_relaxed.owl microcystic adenoma|microcystic adenoma (morphologic abnormality) UMLS:C0205648|MESH:D000236|NCIT:C3685|DOID:5403|ICDO:8202/0 owl:Class HGNC:18640 biolink:NamedThing LDLRAP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0000593 biolink:NamedThing Abnormal anterior chamber morphology Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. tmpaxzxjjyw_mondo_relaxed.owl Anterior chamber anomalies|Abnormality of the anterior chamber|Ocular anterior chamber abnormality SNOMEDCT_US:204142009|UMLS:C3152182 human_phenotype owl:Class MONDO:0030030 biolink:NamedThing Nizon-Isidor syndrome tmpaxzxjjyw_mondo_relaxed.owl NIZON-ISIDOR SYNDROME|NIZIDS|nizon-isidor syndrome OMIM:618872 owl:Class HGNC:29059 biolink:NamedThing IQSEC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004633 biolink:NamedThing Hodgkin's lymphoma, mixed cellularity A subtype of classical Hodgkin lymphoma with scattered Reed-Sternberg and Hodgkin cells in a diffuse or vaguely nodular mixed inflammatory background without nodular sclerosing fibrosis. (WHO, 2008) tmpaxzxjjyw_mondo_relaxed.owl Hodgkin's disease, mixed cellularity of unspecified site|Hodgkin's disease, mixed cellularity|mixed cellularity Hodgkin's disease|mixed cellularity classical Hodgkin lymphoma|Hodgkin's disease mixed cellularity|mixed cellularity Hodgkin lymphoma|Mixed cellularity Classic Hodgkin lymphoma|Hodgkin's lymphoma mixed cellularity|Hodgkin lymphoma, mixed cellularity|mixed cellularity Hodgkin's lymphoma|MCCHL|MCHL|classic Hodgkin lymphoma, mixed cellularity type DOID:8654|Orphanet:98844|SCTID:118609008|MESH:D006689|ICD10:C81.2|ICDO:9652/3|ICD9:201.6|ONCOTREE:MCCHL|NCIT:C3517 owl:Class MONDO:0011743 biolink:NamedThing Alzheimer disease 4 Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer disease, familial4|Alzheimer disease 4|Alzheimer's disease 4|AD4|Alzheimer's disease type 4|Alzheimer disease type 4|familial Alzheimer disease, type 4|Alzheimer disease familial type 4|familial Alzheimer's disease, type 4|Ad4|Alzheimer disease, familial, 4 DOID:0110040|MESH:C536596|NCIT:C123413|UMLS:C1847200|GARD:0009469|OMIM:606889 owl:Class MONDO:0019109 biolink:NamedThing CANOMAD syndrome CANOMAD syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy. tmpaxzxjjyw_mondo_relaxed.owl chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome|chronic sensory ataxic neuropathy with anti-disialosyl antibodies|chronic ataxic neuropathy ophthalmoplegia M-protein agglutination disialosyl antibodies syndrome|chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies UMLS:C2931684|SCTID:715624006|GARD:0009778|ICD10:G61.8|Orphanet:71279|MESH:C537980 https://rarediseases.info.nih.gov/diseases/9778/canomad-syndrome owl:Class MONDO:0001350 biolink:NamedThing parametrium malignant neoplasm A malignant neoplasm involving the parametrium. tmpaxzxjjyw_mondo_relaxed.owl parametrium cancer|malignant neoplasm of parametrium|cancer of parametrium|malignant parametrium neoplasm ICD10:C57.3|ICD9:183.4|UMLS:C0153581|DOID:11746|SCTID:448674007 owl:Class MONDO:0019732 biolink:NamedThing ALys amyloidosis tmpaxzxjjyw_mondo_relaxed.owl familial renal amyloidosis due to lysozyme variant|hereditary amyloid nephropathy due to lysozyme variant|familial amyloid nephropathy due to lysozyme variant|hereditary renal amyloidosis due to lysozyme variant|lysozyme amyloidosis Orphanet:93561|ICD10:E85.0|UMLS:CN206639 owl:Class MONDO:0008904 biolink:NamedThing camptomelic syndrome, long-limb type tmpaxzxjjyw_mondo_relaxed.owl campomelic syndrome, long-limb type|campomelic syndrome long limb type|camptomelic syndrome, long-limb type|Camptomelic syndrome long limb type GARD:0001071|Orphanet:140|UMLS:C1859354|OMIM:211990|MESH:C537977 https://rarediseases.info.nih.gov/diseases/1071/camptomelic-syndrome-long-limb-type owl:Class MONDO:0018266 biolink:NamedThing ataxia - telangiectasia variant Ataxia-telangiectasia variant is a rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present. tmpaxzxjjyw_mondo_relaxed.owl v-AT UMLS:C1876175|ICD10:G11.3|Orphanet:370109 owl:Class NCBITaxon:128827 biolink:NamedThing Erysipelotrichaceae tmpaxzxjjyw_mondo_relaxed.owl Erysipelothrix group PMID:14742484|GC_ID:11|PMID:27270136 ncbi_taxonomy owl:Class MONDO:0015545 biolink:NamedThing macrophage activation syndrome A complication of rheumatic disease that is caused by excessive activation and uncontrolled proliferation of T lymphocytes and well-differentiated macrophages. It is characterized by fever, pancytopenia, liver insufficiency, coagulopathy and neurologic symptoms. tmpaxzxjjyw_mondo_relaxed.owl reactive hemophagocytic lymphohistiocytosis|MAS MESH:D055501|NCIT:C114471|GARD:0012124|UMLS:C1096155|SCTID:430478003|Orphanet:158061|EFO:1001806|MedDRA:10053867 https://rarediseases.info.nih.gov/diseases/12124/macrophage-activation-syndrome owl:Class MONDO:0019634 biolink:NamedThing familial nasal acilia Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions. tmpaxzxjjyw_mondo_relaxed.owl SCTID:763532008|GARD:0002254|Orphanet:922|UMLS:CN206502|ICD10:Q30.8 https://rarediseases.info.nih.gov/diseases/2254/familial-nasal-acilia owl:Class NCBITaxon:41191 biolink:NamedThing Glossata tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class HGNC:3693 biolink:NamedThing FGFRL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001141 biolink:NamedThing middle ear cholesterol granuloma As accumulation of granulation tissue in the middle ear that results from the degeneration of blood and a chronic inflammatory response. tmpaxzxjjyw_mondo_relaxed.owl cholesterin granuloma of middle ear|cholesterin granuloma SCTID:28371001|UMLS:C0155492|ICD9:385.82|DOID:10852|NCIT:C3655 owl:Class MONDO:0020462 biolink:NamedThing tarsal kink syndrome Tarsal kink syndrome is a rare congenital malformation of the tarsus that causes entropion characterized by blepharospasm and absence of an upper eyelid fold that may lead to corneal ulceration caused by the folded edge of the upper tarsus or the inturned eyelashes if not corrected by surgery. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207325|Orphanet:99170 owl:Class MONDO:0004035 biolink:NamedThing glomangiomatosis A benign multifocal proliferation of glomus cells forming clusters around dilated vascular spaces. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333824|NCIT:C27496|DOID:6906 owl:Class MONDO:0001049 biolink:NamedThing Dressler syndrome A pericarditis characterized by inflammation, occurring after injury, located in pericardium. tmpaxzxjjyw_mondo_relaxed.owl Dressler's syndrome|Dressler syndrome|postmyocardial infarction syndrome SCTID:66189004|ICD10:I24.1|ICD9:411.0|DOID:10507|UMLS:C0152107 Editor note: TODO owl:Class MONDO:0022424 biolink:NamedThing alpha-mannosidosis type 1 tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931251|MESH:C536584 owl:Class MONDO:0024630 biolink:NamedThing defective phagocytic cell chemotaxis tmpaxzxjjyw_mondo_relaxed.owl defective phagocytic cell chemotaxis UMLS:C0398735|SCTID:234580003|ICD9:279.8 owl:Class MONDO:0001522 biolink:NamedThing pyromania A disorder characterized by a fascination with fire and recurrent episodes of fire setting during which the individual experiences a rising subjective sense of tension before the fire setting and a sense of gratification or relief when setting the fire. There is no ulterior motive (such as monetary gain or the expression of political ideology) to the fire setting. tmpaxzxjjyw_mondo_relaxed.owl pathological firesetting|firesetting behavior ICD10:F63.1|SCTID:600009|ICD9:312.33|DOID:12402|NCIT:C94334|MESH:D005391 owl:Class GO:0015399 biolink:NamedThing primary active transmembrane transporter activity Enables the transfer of a solute from one side of a membrane to the other, up the solute's concentration gradient, by binding the solute and undergoing a series of conformational changes. Transport works equally well in either direction and is powered by a primary energy source, directly using ATP. Primary energy sources known to be coupled to transport are chemical, electrical and solar sources. tmpaxzxjjyw_mondo_relaxed.owl primary active transporter owl:Class MONDO:0008216 biolink:NamedThing pelvic lipomatosis with crossed renal ectopia tmpaxzxjjyw_mondo_relaxed.owl pelvic lipomatosis with crossed renal ectopia OMIM:169545|MESH:C566812|UMLS:C1868511 owl:Class MONDO:0033541 biolink:NamedThing immunodeficiency 69 tmpaxzxjjyw_mondo_relaxed.owl Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive|IMD69|Ifng Deficiency, Autosomal Recessive|IMMUNODEFICIENCY 69 OMIM:618963 owl:Class MONDO:0010900 biolink:NamedThing intrauterine growth retardation with increased mitomycin c sensitivity tmpaxzxjjyw_mondo_relaxed.owl intrauterine growth retardation with increased mitomycin c sensitivity MESH:C536744|OMIM:600546|GARD:0005593|Orphanet:808 https://rarediseases.info.nih.gov/diseases/5593/intrauterine-growth-retardation-with-increased-mitomycin-c-sensitivity owl:Class MONDO:0012902 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 27 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q12-q13.1. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 27|deafness, autosomal dominant 27|autosomal dominant deafness 27|autosomal dominant nonsyndromic deafness type 27|DFNA27 DOID:0110556|OMIM:612431|ICD10:H90.3 owl:Class MONDO:0033644 biolink:NamedThing microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 tmpaxzxjjyw_mondo_relaxed.owl MRCS1 OMIM:619082 owl:Class MONDO:0003963 biolink:NamedThing diffuse infiltrative lymphocytosis syndrome This is usually an oligoclonal CD8+ lymphocytic infiltration of various organs. tmpaxzxjjyw_mondo_relaxed.owl diffuse infiltra. lymph. syndrome|diffuse infiltra. lymph. sydrome DOID:6677|UMLS:C1333292|SCTID:449784008|NCIT:C35699 owl:Class UBERON:0006921 biolink:NamedThing stomach squamous epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0054725 biolink:NamedThing spermatogenic failure 21 tmpaxzxjjyw_mondo_relaxed.owl SPGF21|spermatogenic failure 21 UMLS:C4539991|OMIM:617644|DOID:0070163 owl:Class MONDO:0005432 biolink:NamedThing alcohol and nicotine codependence A drug dependence that is the physiological result of being addicted to alcohol and nicotine. tmpaxzxjjyw_mondo_relaxed.owl EFO:0004776 owl:Class CL:0000417 biolink:NamedThing endopolyploid cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0002950 biolink:NamedThing skin clear cell basal cell carcinoma A morphologic variant of basal cell carcinoma characterized by the presence of clear cells. tmpaxzxjjyw_mondo_relaxed.owl skin clear cell basal cell carcinoma|clear cell basal cell carcinoma UMLS:C1516599|DOID:4293|NCIT:C27536 owl:Class MONDO:0011345 biolink:NamedThing facial dysmorphism, selective tooth agenesis, and choroid calcification tmpaxzxjjyw_mondo_relaxed.owl facial dysmorphism, selective tooth agenesis, and choroid calcification UMLS:C1970343|MESH:C567039|OMIM:603589 owl:Class NCBITaxon:103828 biolink:NamedThing Thelaziidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018198 biolink:NamedThing acute encephalopathy with biphasic seizures and late reduced diffusion Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy. tmpaxzxjjyw_mondo_relaxed.owl AESD|acute infantile encephalopathy predominantly affecting the frontal lobes|AIEF ICD10:G40.4|Orphanet:363549|SCTID:766044005 owl:Class MONDO:0007320 biolink:NamedThing chondrocalcinosis due to apatite crystal deposition tmpaxzxjjyw_mondo_relaxed.owl chondrocalcinosis due to apatite crystal deposition|familial apatite disease MESH:C535939|UMLS:C1861580|GARD:0010139|OMIM:118610 https://rarediseases.info.nih.gov/diseases/10139/chondrocalcinosis-due-to-apatite-crystal-deposition owl:Class MONDO:0006459 biolink:NamedThing thymoma type B1 A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors. tmpaxzxjjyw_mondo_relaxed.owl thymoma, organoid|organoid thymoma|lymphocyte-rich thymoma|lymphocyte-predominant thymoma|thymoma type B1|predominantly cortical thymoma UMLS:C1266094|DOID:6917|ICDO:8583/1|NCIT:C6887|EFO:1000584 MONDO:0004036 owl:Class MONDO:0012158 biolink:NamedThing keratoconus 2 tmpaxzxjjyw_mondo_relaxed.owl keratoconus 2|KTCN2 UMLS:C1837090|MESH:C563827|OMIM:608932 owl:Class HP:0011280 biolink:NamedThing Abnormality of urine calcium concentration An abnormality of calcium concentration in the urine. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of urine Ca2+ concentration|Abnormality of urine Ca concentration UMLS:C4023434 peter 2011-12-30T03:27:02Z human_phenotype owl:Class HP:0012591 biolink:NamedThing Abnormal urinary electrolyte concentration An abnormality in the concentration of electrolytes in the urine. tmpaxzxjjyw_mondo_relaxed.owl Urinary electrolyte imbalance UMLS:C4022833 peter 2014-01-16T05:44:11Z human_phenotype owl:Class SO:0000453 biolink:NamedThing chromosomal_transposition A chromosome structure variant whereby a region of a chromosome has been transferred to another position. Among interchromosomal rearrangements, the term transposition is reserved for that class in which the telomeres of the chromosomes involved are coupled (that is to say, form the two ends of a single DNA molecule) as in wild-type. tmpaxzxjjyw_mondo_relaxed.owl chromosomal transposition|transposition owl:Class MONDO:0012076 biolink:NamedThing midface hypoplasia, obesity, developmental delay, and neonatal hypotonia tmpaxzxjjyw_mondo_relaxed.owl midface hypoplasia, obesity, developmental delay, and neonatal hypotonia UMLS:C1837730|OMIM:608624|MESH:C563896 owl:Class CHEBI:35705 biolink:NamedThing immunosuppressive agent An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response. tmpaxzxjjyw_mondo_relaxed.owl immunosuppressive agents|immunosuppressant|inmunosupresor owl:Class MONDO:0002792 biolink:NamedThing cerebellar vermis medulloblastoma A medulloblastoma arising from the vermis of the cerebellum. tmpaxzxjjyw_mondo_relaxed.owl medulloblastoma of cerebellar vermis|vermis medulloblastoma|cerebellar vermis medulloblastoma|medulloblastoma of the cerebellar vermis NCIT:C5401|UMLS:C1332903|DOID:3860 owl:Class MONDO:0033006 biolink:NamedThing Galloway-Mowat syndrome 2, X-linked tmpaxzxjjyw_mondo_relaxed.owl GAMOS2|Galloway-Mowat syndrome 2|Galloway-Mowat syndrome 2, X-linked DOID:0080244|UMLS:CN570502|OMIM:301006|Orphanet:2065 owl:Class MONDO:0015303 biolink:NamedThing macular amyloidosis Macular amyloidosis (MA) is a rare chronic form of cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, clinically characterized by pruritic hyperkeratotic gray-brown macules that give a rippled or reticulated pattern of pigmentation usually in the upper back and extensor sites of arms, forearms and legs, and histologically by the deposition of amyloid in the upper dermis and close to the basal cell layer of the epidermis. MA is commonly associated with other skin diseases, such as atopic dermatitis. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E85.4+|Orphanet:137814|ICD10:L99.0*|UMLS:C0544839 owl:Class MONDO:0011756 biolink:NamedThing Senior-Loken syndrome 4 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene. tmpaxzxjjyw_mondo_relaxed.owl NPHP4 Senior-Loken syndrome|SENIOR-Loken syndrome 4|Senior-Loken syndrome type 4|SLSN4|Senior-Loken syndrome caused by mutation in NPHP4|Senior-Loken syndrome 4 OMIM:606996|MESH:C537581|UMLS:C1846979|Orphanet:3156 owl:Class MONDO:0010971 biolink:NamedThing infundibulopelvic stenosis-multicystic kidney syndrome Infundibulopelvic stenosis-multicystic kidney syndrome is a rare, genetic renal malformation syndrome characterized by variable degrees of malformation in the pelvicalyceal system (including unilateral or bilateral calyceal dilatation, infundibular stenosis, hypoplasia or stenosis of the renal pelvis) which lead to multicystic kidney. Clinically it exhibits abdominal, lumbar or flank pain, recurrent urinary tract infections, hypertension, proteinuria and often progresses to renal insufficiency. Calyceal dilatation and hydronephrosis are frequently seen on imaging. tmpaxzxjjyw_mondo_relaxed.owl infundibulopelvic dysgenesis OMIM:600989|MESH:C535528|UMLS:C1832949|SCTID:725905005|Orphanet:1849|GARD:0003005 owl:Class MONDO:0016487 biolink:NamedThing beta-thalassemia intermedia Beta-thalassemia (BT) intermedia is a form of BT characterized by mild to moderate anemia which does not or only occasionally requires transfusion. tmpaxzxjjyw_mondo_relaxed.owl ICD9:282.49|OMIM:613985|Orphanet:231222|SCTID:191189009|MedDRA:10062923|ICD10:D56.1 owl:Class MONDO:0032906 biolink:NamedThing spastic paraplegia 82, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl SPG82|SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE OMIM:618770 owl:Class MONDO:0018378 biolink:NamedThing osteonecrosis of the jaw An area of necrotic bone in the mandible or maxilla. tmpaxzxjjyw_mondo_relaxed.owl jaw osteonecrosis|osteonecrosis of jaw|ONJ Orphanet:399293|ICD10:K10.2|UMLS:C2711248|SCTID:441809006|ICD9:733.45|NCIT:C63924 owl:Class HP:0031097 biolink:NamedThing Abnormal thyroid-stimulating hormone level Any deviation from the normal amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl Abnormal circulating thyrotropin concentration|Abnormal thyrotropin level|Abnormal TSH level 2017-05-30 02:12:45+00:00 peter human_phenotype owl:Class MONDO:0009079 biolink:NamedThing DOORS syndrome DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome. tmpaxzxjjyw_mondo_relaxed.owl Digitorenocerebral syndrome|DOORS syndrome|deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome|deafness-onychoosteodystrophy-intellectual disability syndrome|deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome|DOORS|Eronen syndrome|deafness onychodystrophy osteodystrophy and intellectual disability syndrome|autosomal recessive deafness-onychodystrophy syndrome|door syndrome|drc syndrome|brachydactyly due to absence of distal phalanges|deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome|deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome|deafness onychodystrophy osteodystrophy and mental retardation syndrome MESH:C563052|ICD10:Q87.8|SCTID:719800009|GARD:0001685|DOID:0111627|OMIM:220500|Orphanet:3231|Orphanet:79500 https://rarediseases.info.nih.gov/diseases/1685/deafness-onychodystrophy-osteodystrophy-and-mental-retardation-syndrome owl:Class MONDO:0021171 biolink:NamedThing Timothy syndrome type 1 (disorder) Classic form of Timothy syndrome, includes all features of generic. tmpaxzxjjyw_mondo_relaxed.owl Timothy syndrome, classic type SCTID:699256006|ICD9:759.89 owl:Class MONDO:0030935 biolink:NamedThing mitochondrial complex 2 deficiency, nuclear type 2 tmpaxzxjjyw_mondo_relaxed.owl mitochondrial complex 2 deficiency, nuclear type 2|MC2DN2 OMIM:619166 owl:Class MONDO:0033204 biolink:NamedThing ciliary dyskinesia, primary, 37 tmpaxzxjjyw_mondo_relaxed.owl ciliary dyskinesia, primary, 37|ciliary dyskinesia, primary, 37, with or without situs inversus|CILD37|primary ciliary dyskinesia 37 OMIM:617577|DOID:0080266|Orphanet:244 owl:Class MONDO:0011167 biolink:NamedThing type 1 diabetes mellitus 6 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 18q21. tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 6|IDDM6|insulin-dependent diabetes mellitus 6|autoimmune thyroid disease, susceptibility to, 5 DOID:0110745|OMIM:601941|MESH:C566603|UMLS:C1866041|ICD10:E10 owl:Class MONDO:0013705 biolink:NamedThing intellectual disability, autosomal recessive 19 tmpaxzxjjyw_mondo_relaxed.owl MRT19|intellectual disability, autosomal recessive 19|mental retardation, autosomal recessive 19 Orphanet:88616|OMIM:614343|UMLS:C3280541 owl:Class MONDO:0014822 biolink:NamedThing 15q14 microdeletion syndrome 15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl monosomy 15q14|Del(15)(q14)|chromosome 15q14 deletion syndrome UMLS:C4225666|UMLS:C4305230|SCTID:719575008|OMIM:616898|ICD10:Q93.5|Orphanet:261190 owl:Class MONDO:0022599 biolink:NamedThing brachydactyly anonychia tmpaxzxjjyw_mondo_relaxed.owl GARD:0000962 https://rarediseases.info.nih.gov/diseases/962/brachydactyly-anonychia owl:Class MONDO:0017545 biolink:NamedThing zygodactyly type 4 tmpaxzxjjyw_mondo_relaxed.owl Zygodactyly, Castilla type|SD1d|syndactyly type 1d|syndactyly type 1, Castilla type|SD1, Castilla type ICD10:Q70.3|UMLS:CN203277|Orphanet:295193 owl:Class MONDO:0018112 biolink:NamedThing isolated scaphocephaly Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture. tmpaxzxjjyw_mondo_relaxed.owl non-syndromic sagittal synostosis|isolated dolichocephaly OMIM:600775|ICD10:Q75.0|OMIM:123100|OMIM:615529|Orphanet:35093 owl:Class MONDO:0011256 biolink:NamedThing emphysema, congenital, with deafness, penoscrotal web, and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl emphysema, congenital, with deafness, penoscrotal web, and mental retardation|emphysema, congenital, with deafness, penoscrotal web, and intellectual disability OMIM:602564|UMLS:C1865180|MESH:C566519 owl:Class MONDO:0003202 biolink:NamedThing pituitary gland basophilic carcinoma tmpaxzxjjyw_mondo_relaxed.owl basophilic carcinoma|basophil carcinoma|basophil carcinoma (morphologic abnormality)|pituitary gland basophil carcinoma|basophil adenocarcinoma UMLS:C1704778|NCIT:C27392|DOID:4915 owl:Class MONDO:0030087 biolink:NamedThing diabetes mellitus, permanent neonatal 2 tmpaxzxjjyw_mondo_relaxed.owl DIABETES MELLITUS, PERMANENT NEONATAL 2|PNDM2|diabetes mellitus, permanent neonatal 2|Developmental Delay, Epilepsy, and Neonatal Diabetes 1 OMIM:618856 owl:Class MONDO:0000807 biolink:NamedThing latex allergy Allergic reaction to products containing processed natural rubber latex such as rubber gloves, condoms, catheters, dental dams, balloons, and sporting equipment. Both T-cell mediated (hypersensitivity, delayed) and IgE antibody-mediated (hypersensitivity, immediate) allergic responses are possible. Delayed hypersensitivity results from exposure to antioxidants present in the rubber; immediate hypersensitivity results from exposure to a latex protein. tmpaxzxjjyw_mondo_relaxed.owl ICD9:989.82|DOID:0060532|SCTID:300916003|ICD9:V15.07|MESH:D020315|ICD9:995.3 Editor note: TODO request owl:Class MONDO:0002399 biolink:NamedThing tenosynovial giant cell tumor, localized type A well-circumscribed, lobulated tumor, completely or partially covered by a fibrous capsule. It usually arises in the fingers. It is characterized by the presence of mononuclear cells, multinucleated osteoclast-like giant cells, hemosiderin-laden macrophages, foam cells, and an inflammatory infiltrate. The tumor is slow-growing, usually developing over several years. Clinical presentation includes painless edema of the affected site. tmpaxzxjjyw_mondo_relaxed.owl tenosynovial giant cell tumor, localized type|localized giant cell neoplasm of tendon sheath|localized giant cell neoplasm of the Tenosynovium|localized giant cell tumor of tendon sheath|synovioma, benign (morphologic abnormality)|localized giant cell tumor of the Tenosynovium|nodular tenosynovitis|localized giant cell tumor of Tenosynovium|localized tenosynovial giant cell tumor|localized giant cell neoplasm of Tenosynovium|benign synovioma|benign tumor of synovium|localized tenosynovial giant cell neoplasm UMLS:C0221289|SCTID:95413004|DOID:2701|NCIT:C3829|NCIT:C6532|UMLS:C0588125|ICD9:727.02 owl:Class MONDO:0010646 biolink:NamedThing macular dystrophy, X-linked tmpaxzxjjyw_mondo_relaxed.owl macular dystrophy, X-linked MESH:C564110|OMIM:309100|UMLS:C1839842 owl:Class HGNC:713 biolink:NamedThing ARSA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008324 biolink:NamedThing pseudoarthrogryposis tmpaxzxjjyw_mondo_relaxed.owl pseudoarthrogryposis|ankylosis at elbow and knee|hereditary congenital rigidity of elbows and knees OMIM:177300|UMLS:C1867485|MESH:C566753 owl:Class MONDO:0000875 biolink:NamedThing adult acute monocytic leukemia A acute monocytic leukemia that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl M5b adult acute differentiated monocytic leukemia|adult acute monocytic leukemia|acute monocytic leukemia of adults|acute monocytic leukemia|M5b adult acute leukemia|adult acute differentiated monocytic leukemia (M5b) DOID:0080149|UMLS:C0280634|NCIT:C8263 owl:Class MONDO:0006981 biolink:NamedThing subacute bacterial endocarditis Subacute inflammation of the endocardium. Streptococcus viridans is the usual etiologic agent of subacute bacterial endocarditis. The distinction between "acute" and "subacute" endocarditis has traditionally been made based on the pathogenic organism and clinical presentation. tmpaxzxjjyw_mondo_relaxed.owl Subacute bacterial endocarditis|SBE|SBE - Subacute bacterial endocarditis|endocarditis lenta|Subacute endocarditis, lenta UMLS:C0014122|MESH:D004698|NCIT:C34583|EFO:1001193|SCTID:73774007|DOID:4562|MedDRA:10042271 owl:Class MONDO:0025459 biolink:NamedThing rinderpest A viral disease of cloven-hoofed animals caused by morbillivirus. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010. tmpaxzxjjyw_mondo_relaxed.owl cattle plague|plague, cattle UMLS:C0035637|MESH:D012301 owl:Class MONDO:0032765 biolink:NamedThing bleeding disorder, platelet-type, 22 tmpaxzxjjyw_mondo_relaxed.owl BDPLT22|BLEEDING DISORDER, PLATELET-TYPE, 22 OMIM:618462 owl:Class MONDO:0005398 biolink:NamedThing upper aerodigestive tract neoplasm Soft tissue tumors or cancer arising from the mucosal surfaces of the lip; oral cavity; pharynx; larynx; and cervical esophagus. Other sites included are the nose and paranasal sinuses; salivary glands; thyroid gland and parathyroid glands; and melanoma and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651) tmpaxzxjjyw_mondo_relaxed.owl SCTID:439361000|EFO:0004284|ICD9:239.89 owl:Class MONDO:0018392 biolink:NamedThing male infertility with spermatogenesis disorder due to single gene mutation tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:399786|ICD10:N46|UMLS:CN227340|GARD:0012513 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: male infertility' MONDO_0005372 https://rarediseases.info.nih.gov/diseases/12513/male-infertility-with-spermatogenesis-disorder-due-to-single-gene-mutation owl:Class MONDO:0006368 biolink:NamedThing phosphaturic mesenchymal tumor An extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor. tmpaxzxjjyw_mondo_relaxed.owl phosphaturic mesenchymal tumor, mixed connective tissue type|phosphaturic mesenchymal tumor, mixed connective tissue variant|phosphaturic mesenchymal tumor EFO:1000473|NCIT:C67237|UMLS:C1831619 owl:Class MONDO:0010692 biolink:NamedThing nuclear ribonucleic acid tmpaxzxjjyw_mondo_relaxed.owl nuclear ribonucleic acid|nRNA OMIM:310650 owl:Class MONDO:0042727 biolink:NamedThing sacrococcygeal teratoma A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns. tmpaxzxjjyw_mondo_relaxed.owl sacrococcygeal teratoma|pre-sacral teratoma|presacral teratoma Orphanet:494421|HP:0030736|GARD:0000319|SCTID:281561000|UMLS:C0559459|NCIT:C99055 owl:Class MONDO:0010717 biolink:NamedThing pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase E1-alpha deficiency is the most frequent form of pyruvate dehydrogenase deficiency (PDHD) characterized by variable lactic acidosis, impaired psychomotor development, hypotonia and neurological dysfunction. tmpaxzxjjyw_mondo_relaxed.owl pyruvate dehydrogenase Complex deficiency|ataxia with lactic acidosis 1|PDHAD|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex E1 component subunit alpha deficiency|PDH deficiency|lactic acidemia, thiamine-responsive|pyruvate decarboxylase deficiency|pyruvate dehydrogenase E1-alpha deficiency|ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency|ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate dehydrogenase E1-ALPHA deficiency OMIM:312170|Orphanet:79243|ICD9:277.6|Orphanet:765|GARD:0004620|SCTID:124593001|ICD10:E74.4 owl:Class MONDO:0011372 biolink:NamedThing microcephaly with simplified gyral pattern tmpaxzxjjyw_mondo_relaxed.owl microcephaly with simplified gyral pattern UMLS:C1863516|OMIM:603802|MESH:C566332 owl:Class MONDO:0032895 biolink:NamedThing developmental and epileptic encephalopathy, 83 tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 83|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83|Barakat-Perenthaler Syndrome|DEE83|EIEE83 OMIM:618744 owl:Class NBO:0000404 biolink:NamedThing stretch reflex "A muscle contraction in response to stretching within the muscle." [wikipedia:Stretch_reflex] tmpaxzxjjyw_mondo_relaxed.owl deep tendon reflex owl:Class HP:0100640 biolink:NamedThing Laryngeal cyst Presence of a cyst (sac-like structure) located in the larynx. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339880|SNOMEDCT_US:195867000 doelkens 2010-12-29T05:48:37Z human_phenotype owl:Class MONDO:0001366 biolink:NamedThing splenic sequestration tmpaxzxjjyw_mondo_relaxed.owl ICD9:289.52|DOID:11786 Editor note: TODO consider cede to HPO owl:Class MONDO:0008001 biolink:NamedThing milia, multiple eruptive tmpaxzxjjyw_mondo_relaxed.owl MEM|milia, multiple eruptive SCTID:238749001|OMIM:157400|MESH:C562823|UMLS:C0343079 owl:Class MONDO:0017782 biolink:NamedThing developmental and speech delay due to SOX5 deficiency Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities). tmpaxzxjjyw_mondo_relaxed.owl Orphanet:313892|OMIM:616803 owl:Class MONDO:0002788 biolink:NamedThing papillary craniopharyngioma A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl craniopharyngioma, papillary (morphologic abnormality)|papillary Rathke's pouch neoplasm|papillary Rathke pouch neoplasm|craniopharyngioma, papillary|papillary craniopharyngioma (morphologic abnormality)|papillary Rathke's pouch tumor|papillary tumor of Rathke's pouch|papillary neoplasm of Rathke's pouch UMLS:C0431128|ICDO:9352/1|MESH:D003397|NCIT:C4725|DOID:3847|EFO:1000447 owl:Class MONDO:0019901 biolink:NamedThing non-distal monosomy 20q tmpaxzxjjyw_mondo_relaxed.owl non-telomeric monosomy 20q|non-distal deletion 20q|non-distal monosomy type 20q Orphanet:96164|ICD10:Q93.5 owl:Class MONDO:0020725 biolink:NamedThing anemia due to chronic disorder Anemia due to a disorder that is persistent or long-standing in nature. tmpaxzxjjyw_mondo_relaxed.owl anemia due to chronic disorder|anemia of systemic disease|anemia of chronic inflammation|anemia of chronic disease|anemia of chronic illness|Secondary anemia|anemia due to Chronic Disorder|anemia of chronic disorder UMLS:C0002873|SCTID:234347009|ICD9:285.29|NCIT:C35659 owl:Class MONDO:0015601 biolink:NamedThing X-linked intellectual disability, van Esch type X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. tmpaxzxjjyw_mondo_relaxed.owl VEODS|mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type|Van Esch-O'Driscoll syndrome SCTID:718914002|Orphanet:163976|OMIM:301030|UMLS:CN226711|ICD10:Q87.8 owl:Class MONDO:0018128 biolink:NamedThing phalangeal microgeodic syndrome Phalangeal microgeodic syndrome is a rare primary osteolysis characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure. tmpaxzxjjyw_mondo_relaxed.owl phalangeal osteolysis Orphanet:352636|UMLS:CN204506|ICD10:M89.5 owl:Class ECTO:0000738 biolink:NamedThing exposure to ligand An exposure to ligand. tmpaxzxjjyw_mondo_relaxed.owl exposure to ligand owl:Class MONDO:0004139 biolink:NamedThing normocytic anemia Anemia in which the red blood cell volume is normal. tmpaxzxjjyw_mondo_relaxed.owl anemia normocytic|normocytic Anemia NCIT:C35142|DOID:720|UMLS:C0085577|ICD9:285.8|SCTID:300980002 owl:Class MONDO:0009545 biolink:NamedThing macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance tmpaxzxjjyw_mondo_relaxed.owl macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance|McAlister coe Whyte syndrome|Macroepiphyseal dysplasia, McAlister coe type GARD:0000173|UMLS:C2931597|OMIM:248010|MESH:C537721 https://rarediseases.info.nih.gov/diseases/173/macroepiphyseal-dysplasia-with-osteoporosis-wrinkled-skin-and-aged-appearance owl:Class HGNC:7961 biolink:NamedThing NR0B2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008672 biolink:NamedThing Watson syndrome Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual. tmpaxzxjjyw_mondo_relaxed.owl pulmonic stenosis with cafe-Au-lait Spots|WTSN|cafe-Au-lait Spots with pulmonic stenosis|Watson syndrome SCTID:403820003|UMLS:CN204429|Orphanet:3444|GARD:0005540|OMIM:193520|ICD9:709.8 https://rarediseases.info.nih.gov/diseases/5540/watson-syndrome owl:Class MONDO:0004268 biolink:NamedThing subareolar duct papillomatosis tmpaxzxjjyw_mondo_relaxed.owl subareolar duct papillomatosis NCIT:C9008|DOID:7533 owl:Class MONDO:0042975 biolink:NamedThing pseudoachondroplastic dysplasia 2 tmpaxzxjjyw_mondo_relaxed.owl pseudoachondroplastic dysplasia 2|recessive pseudoachondroplasia|spondyloepiphyseal dysplasia pseudoachondroplastic 2 UMLS:C2931030|MESH:C535820|GARD:0004542|MEDGEN:418965 owl:Class MONDO:0008444 biolink:NamedThing spastic paraplegia, optic atrophy, and dementia tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia, optic atrophy, and dementia MESH:C566679|OMIM:182830|UMLS:C1866849 owl:Class UBERON:0001190 biolink:NamedThing ovarian artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016101 biolink:NamedThing neurolymphomatosis A transmissible viral disease of birds caused by avian herpesvirus 2 (herpesvirus 2, gallid) and other mardivirus. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye. tmpaxzxjjyw_mondo_relaxed.owl Marek disease|fowl paralyses|fowl paralysis|Marek's disease SCTID:766752000|MESH:D008380|Orphanet:206586|GARD:0006974|UMLS:C0024793 owl:Class MONDO:0008298 biolink:NamedThing postaxial tetramelic oligodactyly Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. tmpaxzxjjyw_mondo_relaxed.owl oligodactyly tetramelic postaxial|postaxial oligodactyly, tetramelic OMIM:176240|ICD10:Q73.8|GARD:0004065|UMLS:C1867924|MESH:C566767|Orphanet:2730 https://rarediseases.info.nih.gov/diseases/4065/oligodactyly-tetramelic-postaxial owl:Class MONDO:0009714 biolink:NamedThing myosclerosis Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries. tmpaxzxjjyw_mondo_relaxed.owl congenital myosclerosis, Löwenthal type|myosclerosis, congenital, of Lowenthal|myopathy, myosclerotic|congenital myosclerosis, LC6wenthal type|myosclerosis, autosomal recessive Orphanet:289380|MedDRA:10064584|SCTID:763895001|OMIM:255600|MESH:C564968|ICD10:G71.8 owl:Class HGNC:288 biolink:NamedThing ADRB3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012263 biolink:NamedThing autoimmune disease, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl autoimmune disease, susceptibility to, 4|AIS4|vitiligo-associated multiple autoimmune disease susceptibility 5|autoimmune disease susceptibility locus, chromosome 4-related OMIM:609400 owl:Class MONDO:0018942 biolink:NamedThing macrophagic myofasciitis tmpaxzxjjyw_mondo_relaxed.owl Macrophagic myofasciitis, childhood|MMF MESH:C537829|GARD:0000176|SCTID:718175009|ICD10:M60.8|UMLS:C2931639|Orphanet:592 https://rarediseases.info.nih.gov/diseases/176/macrophagic-myofasciitis owl:Class MONDO:0022535 biolink:NamedThing autonomic facial cephalgia tmpaxzxjjyw_mondo_relaxed.owl Carotidynia|carotidynia|Carotodynia|Autonomic facial cephalgia UMLS:C0238902|GARD:0010369|SCTID:230482003|ICD9:337.09 owl:Class MONDO:0001548 biolink:NamedThing hepatic coma A syndrome characterized by central nervous system dysfunction in association with liver failure, including portal-systemic shunts. Clinical features include lethargy and confusion (frequently progressing to coma); asterixis; nystagmus, pathologic; brisk oculovestibular reflexes; decorticate and decerebrate posturing; muscle spasticity; and bilateral extensor plantar reflexes (see reflex, babinski). electroencephalography may demonstrate triphasic waves. (From Adams et al., Principles of Neurology, 6th ed, pp1117-20; Plum & Posner, Diagnosis of Stupor and Coma, 3rd ed, p222-5) tmpaxzxjjyw_mondo_relaxed.owl hepatocerebral intoxication UMLS:C0019147|DOID:12550|ICD9:070.42|SCTID:72836002|MESH:D006501|ICD10:K72.91 owl:Class HGNC:2260 biolink:NamedThing COX10 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0033485 biolink:NamedThing short-rib thoracic dysplasia 19 with or without polydactyly tmpaxzxjjyw_mondo_relaxed.owl short-rib thoracic dysplasia 19 with or without polydactyly|SRTD19 DOID:0080295|UMLS:CN842245|OMIM:617895 owl:Class MONDO:0010322 biolink:NamedThing intellectual disability, X-linked 2 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked 2|MRX2|intellectual disability, X-linked 2 OMIM:300428|MESH:C563135|UMLS:C0796207 owl:Class MONDO:0008206 biolink:NamedThing benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset. tmpaxzxjjyw_mondo_relaxed.owl paroxysmal tonic upgaze, benign childhood, with ataxia|Ouvrier Billson syndrome|Ouvrier-Billson syndrome Orphanet:1179|MESH:C566817|ICD10:G96.8|SCTID:763127004|UMLS:C1868576|OMIM:168885|GARD:0004176 owl:Class MONDO:0009538 biolink:NamedThing lymphoid system deterioration, progressive tmpaxzxjjyw_mondo_relaxed.owl lymphoid system deterioration, progressive MESH:C565430|OMIM:247630|UMLS:C1855473 owl:Class MONDO:0020370 biolink:NamedThing Cogan-Reese syndrome Cogan-Reese syndrome is a clinical variant of iridocorneal endothelial (ICE) syndrome characterized by variable iris atrophy, pigmented and pedunculated nodules on the iris and corneal abonormalities. Secondary glaucoma is also a common complication of the disease. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060217|ICD10:H21.2|SCTID:404633004|UMLS:C1168173|NCIT:C84644|Orphanet:98980|MedDRA:10059200|GARD:0006125 https://rarediseases.info.nih.gov/diseases/6125/cogan-reese-syndrome owl:Class MONDO:0100400 biolink:NamedThing acute myeloid leukemia, t(3;12)(q23;p12.3) Any acute myeloid leukemia that has the chromosomal anomaly t(3;12)(q23;p12.3). (A cytogenetic abnormality that refers to the translocation of the long arm (q23) of chromosome 3 and the short arm (p12.3) of chromosome 12. It is associated with ETV6/MECOM (EVI1) fusions, myeloproliferative disorders, myelodysplastic syndromes and acute myelogenous leukemia.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(3;12)(q23;p12.3) NCIT:C168766 owl:Class MONDO:0033670 biolink:NamedThing hearing loss, autosomal recessive 116 tmpaxzxjjyw_mondo_relaxed.owl DFNB116|deafness, autosomal recessive 116 OMIM:619093 owl:Class MONDO:0032686 biolink:NamedThing spermatogenic failure 35 tmpaxzxjjyw_mondo_relaxed.owl SPGF35|SPERMATOGENIC FAILURE 35 OMIM:618341 owl:Class MONDO:0043257 biolink:NamedThing pemphigus and fogo selvagem tmpaxzxjjyw_mondo_relaxed.owl Brazilian pemphigus|wildfire pemphigus|Brazilian pemphigus foliaceus|FS|wild fire|South American pemphigus|amendola's syndrome|endemic pemphigus foliaceus|fogo selvagem GARD:0007353|UMLS:C0263314|HGNC:3048|MESH:C535551|SCTID:46459009 owl:Class MONDO:0004271 biolink:NamedThing pregnancy adenoma A tubular type adenoma of the breast in which, during pregnancy and lactation, the epithelial cells show extensive secretory changes. tmpaxzxjjyw_mondo_relaxed.owl Lactating adenoma (morphologic abnormality)|Lactating adenoma ICDO:8204/0|NCIT:C9473|UMLS:C1266023|DOID:7539 owl:Class MONDO:0030915 biolink:NamedThing intellectual disability, autosomal recessive 61 An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on chromosome 9p13. tmpaxzxjjyw_mondo_relaxed.owl MRT61|autosomal recessive intellectual disability 61|Alwadei syndrome|autosomal recessive mental retardation 61|intellectual disability, autosomal recessive 61|mental retardation, autosomal recessive 61 UMLS:CN651335|OMIM:617773|DOID:0080239 owl:Class MONDO:0006606 biolink:NamedThing scleredema adultorum A usually benign and self-limited skin disorder of unknown etiology, characterized by induration of the skin. It may be associated with infection, diabetes mellitus, and hematologic malignancies. Morphologically, there is deposition of mucin in the dermis. tmpaxzxjjyw_mondo_relaxed.owl Buschke scleredema|scleredema adultorum|Diabeticorums, scleredema|scleredema|scleredema, Buschke's|Buschke's scleredema|scleredema Diabeticorums|Buschke scleredema adultorum|Buschkes scleredema|scleredema Diabeticorum of Buschke|scleredema Diabeticorum|Buschke scleredema Diabeticorum|Diabeticorum, scleredema|scleredema adultorum of Buschke|scleredemas NCIT:C85057|Orphanet:352763|UMLS:C0036413|DOID:3140|GARD:0005975|MESH:D012592|SCTID:95323007|EFO:1000762|ICD10:M34.8 owl:Class MONDO:0032842 biolink:NamedThing siddiqi syndrome tmpaxzxjjyw_mondo_relaxed.owl SIDDIS|Deafness, Dystonia, Developmental Delay, and Poor Growth|SIDDIQI SYNDROME OMIM:618635 owl:Class MONDO:0006658 biolink:NamedThing arteriolosclerosis The thickening of the wall of the small arteries and arterioles. It is caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy. It results in lumen narrowing and tissue ischemia. tmpaxzxjjyw_mondo_relaxed.owl arteriolosclerosis (morphologic abnormality) EFO:1000819|MESH:D050379|DOID:5162|NCIT:C35543|UMLS:C0878486|ICD10:I70 owl:Class MONDO:0009906 biolink:NamedThing prenatal bowing tmpaxzxjjyw_mondo_relaxed.owl prenatal bowing OMIM:264050|Orphanet:2292|MESH:C564873 owl:Class MONDO:0010276 biolink:NamedThing radioulnar synostosis, radial ray abnormalities, and severe malformations in the male tmpaxzxjjyw_mondo_relaxed.owl radioulnar synostosis, radial RAY abnormalities, and severe malformations in the MALE MESH:C564557|UMLS:C1846147|OMIM:300233 owl:Class MONDO:0009170 biolink:NamedThing endocardial fibroelastosis and coarctation of abdominal aorta tmpaxzxjjyw_mondo_relaxed.owl endocardial fibroelastosis and coarctation of abdominal aorta OMIM:226100|MESH:C565592|UMLS:C1856971 owl:Class MONDO:0017038 biolink:NamedThing secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis tmpaxzxjjyw_mondo_relaxed.owl secondary ILD in childhood and adulthood associated with a systemic vasculitis 2022-03-01 UMLS:CN202349|Orphanet:264973 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class NCBITaxon:91888 biolink:NamedThing lamiids tmpaxzxjjyw_mondo_relaxed.owl euasterids I PMID:12144762|GC_ID:1 NCBITaxon:41935 ncbi_taxonomy owl:Class PATO:0000460 biolink:NamedThing abnormal A quality inhering in a bearer by virtue of the bearer's deviation from normal or average. tmpaxzxjjyw_mondo_relaxed.owl aberrant|defective|atypia|atypical owl:Class MONDO:0021559 biolink:NamedThing non-autoimmune hemolytic anemia Hemolytic anemia that is not mediated by immune mechanisms. tmpaxzxjjyw_mondo_relaxed.owl Non-Autoimmune Hemolytic Anemia|non-autoimmune hemolytic anemia|Non-autoimmune hemolytic anemia NCIT:C34853|UMLS:C0028283|ICD9:283.10|SCTID:191216004|ICD9:283.19 owl:Class MONDO:0006326 biolink:NamedThing ocular melanoma with extraocular extension A melanoma arising from and extending beyond the structures of the eye. tmpaxzxjjyw_mondo_relaxed.owl extraocular extension of melanoma|ocular melanoma with extraocular extension|extraocular extension melanoma EFO:1000404|NCIT:C7913|UMLS:C0278869 owl:Class MONDO:0030294 biolink:NamedThing megacystis-microcolon-intestinal hypoperistalsis syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl MMIHS3|megacystis-microcolon-intestinal hypoperistalsis syndrome 3 OMIM:619362 owl:Class MONDO:0011795 biolink:NamedThing anonychia-microcephaly syndrome Anonychia-microcephaly syndrome is a multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely-spaced teeth. tmpaxzxjjyw_mondo_relaxed.owl total anonychia congenita and microcephaly|anonychia total with microcephaly|Teebi-Kaurah syndrome|anonychia, total, with microcephaly|total anonychia with microcephaly OMIM:607214|SCTID:720494009|GARD:0000709|Orphanet:1094|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/709/anonychia-total-with-microcephaly owl:Class MONDO:0027451 biolink:NamedThing autosomal recessive cutis laxa type 2D An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13. tmpaxzxjjyw_mondo_relaxed.owl cutis laxa, autosomal recessive, type 2D|ARCL2D|autosomal recessive cutis laxa type IID|cutis laxa, autosomal recessive, type IID ICD10:Q82.8|DOID:0070129|OMIM:617403|Orphanet:357074 owl:Class MONDO:0006760 biolink:NamedThing fetal erythroblastosis A disorder of the fetus or newborn that occurs when fetal cells that are coated with IgG alloantibodies from the mother attack antigens inherited from the father. Severity can range from absence of symptoms to death. tmpaxzxjjyw_mondo_relaxed.owl haemolytic disease due to rhesus isoimmunisation|rhesus isoimmunisation of the newborn|EF - erythroblastosis foetalis|isoimmune hemolytic disease of the newborn|HDFN|hemolytic disease of the fetus or newborn|hemolytic disease of the newborn|erythroblastosis fetalis ICD9:773|ICD9:773.2|SCTID:387705004|DOID:1098|NCIT:C101304|ICD10:P55|UMLS:C0014761|ICD10:P55.9|EFO:1000937|MESH:D004899 owl:Class MONDO:0030867 biolink:NamedThing thrombocytopenia 7 tmpaxzxjjyw_mondo_relaxed.owl thrombocytopenia 7|Thrombocytopenia, Autosomal Dominant, 7|THC7 OMIM:619130 owl:Class MONDO:0001395 biolink:NamedThing macular keratitis tmpaxzxjjyw_mondo_relaxed.owl SCTID:2853006|DOID:11871|ICD9:370.22|ICD10:H16.11|UMLS:C0155076 owl:Class MONDO:0008579 biolink:NamedThing toes, relative length of first and second tmpaxzxjjyw_mondo_relaxed.owl toes, relative length of first and second OMIM:189200 owl:Class MONDO:0017176 biolink:NamedThing Machado-Joseph disease type 3 Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy. tmpaxzxjjyw_mondo_relaxed.owl azorean disease, type iii|spinocerebellar ataxia type 3, Machado type|SCA3, Machado type Orphanet:276244|SCTID:91955005|ICD10:G11.8 owl:Class HGNC:26887 biolink:NamedThing TAPT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004650 biolink:NamedThing tongue keratinized epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0002797 biolink:NamedThing Osteolysis Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. tmpaxzxjjyw_mondo_relaxed.owl Osteolytic defects of bones|Breakdown of bone|Increased bone resorption SNOMEDCT_US:203522001|UMLS:C0221204|SNOMEDCT_US:30425001|MSH:D010014 Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms. HP:0010737 human_phenotype owl:Class MONDO:0032710 biolink:NamedThing developmental and epileptic encephalopathy, 72 tmpaxzxjjyw_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 72|EIEE72|epileptic encephalopathy, early infantile, 72|DEE72 OMIM:618374 owl:Class MONDO:0016445 biolink:NamedThing familial anetoderma Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder. tmpaxzxjjyw_mondo_relaxed.owl hereditary macular atrophy|hereditary anetoderma UMLS:CN226934|UMLS:C4518793|ICD10:L90.8|SCTID:733467001|Orphanet:228277 owl:Class UBERON:0035841 biolink:NamedThing esophagogastric junction muscularis propria tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018090 biolink:NamedThing double outlet left ventricle Double-outlet left ventricle (DOLV) is an extremely rare congenital cardiac malformation in which both the aorta and the pulmonary artery arise, either exclusively or predominantly, from the morphologic left ventricle. tmpaxzxjjyw_mondo_relaxed.owl Double outlet left ventricle|DOLV|double outlet left ventricle (disease) double outlet left ventricle (disease) ICD10:Q20.2|HP:0011581|SCTID:7368005|GARD:0001907|Orphanet:3427|ICD9:745.19 owl:Class HGNC:6267 biolink:NamedThing KCNJ6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017642 biolink:NamedThing intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.8|Orphanet:3067|UMLS:CN227166 owl:Class HGNC:435 biolink:NamedThing ALOX5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7529 biolink:NamedThing MVD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023238 biolink:NamedThing giant mammary hamartoma tmpaxzxjjyw_mondo_relaxed.owl giant hamartoma of the breast GARD:0000208|UMLS:C2931343|MESH:C536818 https://rarediseases.info.nih.gov/diseases/208/giant-mammary-hamartoma owl:Class MONDO:0009498 biolink:NamedThing lethal Kniest-like dysplasia Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities. tmpaxzxjjyw_mondo_relaxed.owl Kniest-like dysplasia, lethal|arthrosis, flat face, hypotonia, short neck and macrocephaly|Kniest like dysplasia lethal ICD10:Q77.8|OMIM:245190|UMLS:C1855605|Orphanet:2347|GARD:0003124|MESH:C537208 https://rarediseases.info.nih.gov/diseases/3124/kniest-like-dysplasia-lethal owl:Class MONDO:0019665 biolink:NamedThing monostotic fibrous dysplasia Fibrous dysplasia of bone involving only one bone. tmpaxzxjjyw_mondo_relaxed.owl monostotic fibrous dysplasia of bone|monostotic fibrous dysplasia (disease)|Jaffe-Lichtenstein disease|monostotic fibrous dysplasia monostotic fibrous dysplasia (disease) ICD9:733.29|NCIT:C53971|HP:0010736|SCTID:89859004|ICD10:Q78.1|ICD10:M85.0|Orphanet:93277|UMLS:C0016064|MESH:D005358 owl:Class MONDO:0007102 biolink:NamedThing amyotrophic dystonic paraplegia tmpaxzxjjyw_mondo_relaxed.owl amyotrophic dystonic paraplegia MESH:C566292|UMLS:C1862956|OMIM:105300 owl:Class HGNC:7470 biolink:NamedThing MT-RNR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018228 biolink:NamedThing bipartite talus Bipartite talus is a rare, genetic bone disorder characterized by the presence of two non-fused talar bone fragments, with the posterior fragment located at the level of the posterior talar process. Patients may present with foot and/or ankle pain (exercise-induced or not), repetitive ankle sprains, chronic ankle ligamentous laxity, restricted ankle motion (i.e. plantar flexion, eversion, and inversion), and mild swelling. tmpaxzxjjyw_mondo_relaxed.owl SCTID:763128009|Orphanet:364198|ICD10:Q66.8|UMLS:CN227287 owl:Class HGNC:25070 biolink:NamedThing ACD tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11786 biolink:NamedThing THBS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016807 biolink:NamedThing pure mitochondrial myopathy Pure mitochondrial myopathy is a rare mitochondrial disease characterized by exclusive skeletal muscle involvement, without clinical evidence of other organ involvement, manifesting with progressive limb weakness, proximal limb muscle atrophy, and eye muscle anomalies (e.g. ocular motility restriction, ptosis). Patients may present with lactic acidosis, diffuse myalgia and overall fatigability (particularly during/after physical activities), dysphagia, and diminished deep tendon reflexes. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4517289|SCTID:732245008|Orphanet:254854|ICD10:G71.3 owl:Class MONDO:0007911 biolink:NamedThing lipoprotein, variant of beta tmpaxzxjjyw_mondo_relaxed.owl Beta-lipoprotein, Double|lipoprotein, variant of beta OMIM:152400 owl:Class MONDO:0019318 biolink:NamedThing inflammatory linear verrucous epidermal nevus tmpaxzxjjyw_mondo_relaxed.owl linear verrucose epidermal nevus|ILVEN|inflammatory linear verrucous epidermal naevus Orphanet:79466|ICD10:Q82.5|GARD:0005484|SCTID:399995006|UMLS:C0473574 owl:Class MONDO:0032574 biolink:NamedThing osteochondrodysplasia, brachydactyly, and overlapping malformed digits tmpaxzxjjyw_mondo_relaxed.owl OCBMD|OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS OMIM:618167 owl:Class MONDO:0010095 biolink:NamedThing ataxia-tapetoretinal degeneration syndrome tmpaxzxjjyw_mondo_relaxed.owl tapetoretinal degeneration with ataxia UMLS:C1848932|OMIM:272600|Orphanet:1178|MESH:C564788 owl:Class MONDO:0001338 biolink:NamedThing acute apical periodontitis tmpaxzxjjyw_mondo_relaxed.owl acute apical periodontitis of pulpal origin ICD10:K04.4|UMLS:C4084770|ICD9:522.4|DOID:11693|SCTID:718053009 owl:Class MONDO:0007802 biolink:NamedThing hypospadias 3, autosomal tmpaxzxjjyw_mondo_relaxed.owl HYSP3|hypospadias 3, autosomal UMLS:C2675154|Orphanet:440|OMIM:146450|MESH:C567191 owl:Class MONDO:0019970 biolink:NamedThing Sinding-Larsen-Johansson disease Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella. tmpaxzxjjyw_mondo_relaxed.owl Osteochondrosis of patella|aseptic necrosis of patella MedDRA:10063585|UMLS:CN206897|Orphanet:97337|ICD10:M92.4 owl:Class MONDO:0019537 biolink:NamedThing hemoglobin D disease Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia). tmpaxzxjjyw_mondo_relaxed.owl hemoglobin D disease|Hb-D disease ICD9:282.7|Orphanet:90039|MedDRA:10055019|UMLS:C0272080|NCIT:C35344|ICD10:D58.2|DOID:5378|SCTID:66729008 owl:Class MONDO:0014072 biolink:NamedThing D,L-2-hydroxyglutaric aciduria D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites. tmpaxzxjjyw_mondo_relaxed.owl combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia|combined D-2- and L-2-hydroxyglutaric aciduria|D2L2AD|D,L-2-hydroxyglutaric acidemia|D,L-2-hydroxyglutaric aciduria|combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria|D,L-2-HGA ICD9:270.8|UMLS:C2746066|UMLS:C4076194|DOID:0111619|ICD10:E72.8|SCTID:713401006|Orphanet:356978|OMIM:615182 owl:Class MONDO:0014255 biolink:NamedThing complement factor b deficiency tmpaxzxjjyw_mondo_relaxed.owl CFBD|complement factor b deficiency|complement factor B deficiency OMIM:615561|UMLS:C3809950 owl:Class MONDO:0007904 biolink:NamedThing median nodule of the upper lip Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion. tmpaxzxjjyw_mondo_relaxed.owl LIP, MEDIAN NODULE of upper OMIM:151630|SCTID:722034006|Orphanet:2699|UMLS:C1835396|ICD10:Q18.8|GARD:0003440 https://rarediseases.info.nih.gov/diseases/3440/median-nodule-of-the-upper-lip owl:Class MONDO:0018709 biolink:NamedThing X-linked intellectual disability-hypotonia-movement disorder syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:457260|OMIM:300958 owl:Class MONDO:0100379 biolink:NamedThing acute myeloid leukemia, t(1;11)(q21;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(1;11)(q21;q23). (A cytogenetic abnormality that refers to the translocation of the long arm (q21) of chromosome 1 and the long arm (q23) of chromosome 11. It is associated with KMT2A (MLL)/MLLT11 (AF1Q) fusions, acute myeloid leukemia and some cases of acute lymphoblastic leukemia.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(1;11)(q21;q23) NCIT:C168759 owl:Class MONDO:0010678 biolink:NamedThing muscular dystrophy, progressive Pectorodorsal tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, progressive Pectorodorsal|muscular dystrophy, progressive, involving shoulder girdle and back UMLS:C1839669|OMIM:310095|MESH:C564095 owl:Class MONDO:0007330 biolink:NamedThing congenital pseudoarthrosis of clavicle Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle. tmpaxzxjjyw_mondo_relaxed.owl clavicle, pseudarthrosis of, congenital|congenital pseudoarthrosis of the clavicle|congenital pseudarthrosis of the clavicle ICD10:Q74.0|MESH:C562548|Orphanet:66630|SCTID:70794004|OMIM:118980 owl:Class HP:0005506 biolink:NamedThing Chronic myelogenous leukemia A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. tmpaxzxjjyw_mondo_relaxed.owl Chronic myeloid leukaemia|Chronic myelocytic leukaemia|Chronic myelocytic leukemia|Chronic myelogenous leukaemia|Chronic myeloid leukemia MSH:D015464|SNOMEDCT_US:63364005|DOID:8552|UMLS:C0023473|SNOMEDCT_US:92818009 HP:0005544 human_phenotype owl:Class MONDO:0001199 biolink:NamedThing dislocation of ear ossicle Ossicular chain dislocation is a separation of the middle ear bones. It results in a hearing loss due to sound not being transmitted properly (conductive hearing loss). Ossicular chain dislocation is also called ossicular chain discontinuity. tmpaxzxjjyw_mondo_relaxed.owl ossicle chain disruption|dislocation of ear ossicles|ossicle chain disarticulation|ossicular dislocation|dislocation of ossicles|ossicle chain discontinuity DOID:11129|SCTID:87040007|ICD9:385.23 owl:Class MONDO:0005253 biolink:NamedThing high output heart failure High-output heart failure is a heart condition that occurs when the cardiac output is higher than normal. tmpaxzxjjyw_mondo_relaxed.owl EFO:0003145|SCTID:10091002|Wikipedia:High-output_cardiac_failure|UMLS:C0221045 owl:Class MONDO:0019152 biolink:NamedThing Oguchi disease Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness and the Mizuo-Nakamura phenomenon. tmpaxzxjjyw_mondo_relaxed.owl congenital stationary night blindness, Oguchi type|Oguchi disease|Oguchi syndrome|stationary night blindness, Oguchi type ICD10:H53.6|MESH:C537743|OMIM:613411|Orphanet:75382|OMIM:258100|GARD:0010118 https://rarediseases.info.nih.gov/diseases/10118/oguchi-disease owl:Class MONDO:0001317 biolink:NamedThing phlyctenulosis tmpaxzxjjyw_mondo_relaxed.owl strumous ophthalmia|Phlyctenular keratoconjunctivitis ICD10:H16.25|SCTID:67895005|DOID:11581|UMLS:C0155080|ICD9:370.31 owl:Class UBERON:0005845 biolink:NamedThing caudal segment of spinal cord tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006732 biolink:NamedThing drug-induced dyskinesia Abnormal movements, including hyperkinesis; hypokinesia; tremor; and dystonia, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see antipsychotic agents). (Adams et al., Principles of Neurology, 6th ed, p1199) tmpaxzxjjyw_mondo_relaxed.owl SCTID:102448004|MESH:D004409|MedDRA:10013916|GARD:0008236|ICD9:333.99|EFO:1000904 owl:Class MONDO:0019034 biolink:NamedThing accessory pancreas Accessory pancreas is an asymptomatic embryopathy characterized by the presence of pancreatic tissue in other sites of the body such as the splenic pedicle, gonadic pedicles, intestinal mesentery, duodenum wall, upper jejunum, or, more rarely, the gastric wall, ileum, gallbladder or spleen. tmpaxzxjjyw_mondo_relaxed.owl pancreas accessorium ICD10:Q45.3|GARD:0000454|MESH:C536003|Orphanet:674|SCTID:79037006 https://rarediseases.info.nih.gov/diseases/454/accessory-pancreas owl:Class HGNC:2988 biolink:NamedThing DOCK2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100115 biolink:NamedThing acute flaccid myelitis An acute onset of focal limb weakness that is associated mainly with gray matter abnormalities or CSF pleocytosis, but which is without an apparent cause. tmpaxzxjjyw_mondo_relaxed.owl AFM NCIT:C128379 owl:Class GO:0090066 biolink:NamedThing regulation of anatomical structure size Any process that modulates the size of an anatomical structure. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044635 biolink:NamedThing diaph1-related sensorineural hearing loss-thrombocytopenia syndrome tmpaxzxjjyw_mondo_relaxed.owl DIAPH1-related sensorineural deafness-thrombocytopenia syndrome|diaph1-related sensorineural hearing loss-thrombocytopenia syndrome Orphanet:494444 owl:Class MONDO:0044633 biolink:NamedThing idiopathic pleuroparenchymal fibroelastosis tmpaxzxjjyw_mondo_relaxed.owl idiopathic pleuropulmonary fibroelastosis|IPPFE Orphanet:494428 owl:Class MONDO:0001983 biolink:NamedThing peripheral degeneration of cornea tmpaxzxjjyw_mondo_relaxed.owl peripheral degenerations of cornea SCTID:89182000|ICD10:H18.46|ICD9:371.48|UMLS:C0155123|DOID:14507 owl:Class MONDO:0011471 biolink:NamedThing inflammatory bowel disease 3 An inflammatory bowel disease that has material basis in variation in the chromosome region 6p21.3. tmpaxzxjjyw_mondo_relaxed.owl IBD3|inflammatory bowel disease 3|inflammatory bowel disease type 3 OMIM:604519|UMLS:C1858303|MESH:C565764|DOID:0110891 owl:Class HP:0002186 biolink:NamedThing Apraxia A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. tmpaxzxjjyw_mondo_relaxed.owl Apraxias UMLS:C0003635|SNOMEDCT_US:6950007|SNOMEDCT_US:68345001|MSH:D001072 human_phenotype owl:Class MONDO:0008611 biolink:NamedThing humerus trochlea aplasia Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus. tmpaxzxjjyw_mondo_relaxed.owl aplasia of trochlea of the humerus|trochlea of the HUMERUS, aplasia OF|trochlea of the humerus aplasia of Orphanet:3383|OMIM:191000|ICD10:Q74.0|MESH:C566022|GARD:0002750|SCTID:732928005|UMLS:C1860773 https://rarediseases.info.nih.gov/diseases/2750/trochlea-of-the-humerus-aplasia-of owl:Class MONDO:0004834 biolink:NamedThing ischemic fasciitis A reactive, painless lesion which is characterized by a pseudosarcomatous proliferation of fibroblasts and myofibroblasts usually in the deep subcutaneous tissue. It occurs mainly around the limb girdles, sacral region, and greater trochanter. It affects mainly elderly patients and sometimes is associated with physical immobility. Local excision is usually curative. tmpaxzxjjyw_mondo_relaxed.owl atypical decubital fibroplasia SCTID:403990005|DOID:9601|UMLS:C1304514|NCIT:C6483 owl:Class MONDO:0033482 biolink:NamedThing spinocerebellar ataxia 47 tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia 47|SCA47 UMLS:CN244564|DOID:0111743|OMIM:617931 owl:Class MONDO:0008625 biolink:NamedThing urate-binding globulin, decrease 1N tmpaxzxjjyw_mondo_relaxed.owl urate-binding globulin, decrease IN|urate-binding globulin, decrease type 1N 2022-04-01 MESH:C566013|UMLS:C1860587|OMIM:191530 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0011393 biolink:NamedThing hypoalphalipoproteinemia, primary, 1 Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene. tmpaxzxjjyw_mondo_relaxed.owl hypoalphalipoproteinemia, familial|familial HDL deficiency|HDL cholesterol, Low serum|FHA|HDLD|high density lipoprotein deficiency|hypoalphalipoproteinemia, primary|FHD GARD:0002872|OMIM:604091|MESH:D052456 owl:Class MONDO:0022971 biolink:NamedThing diabetes persistent mullerian ducts tmpaxzxjjyw_mondo_relaxed.owl GARD:0001840 https://rarediseases.info.nih.gov/diseases/1840/diabetes-persistent-mullerian-ducts owl:Class MONDO:0001004 biolink:NamedThing slate pneumoconiosis Pneumoconiosis caused by exposure to slate dust. tmpaxzxjjyw_mondo_relaxed.owl Schistosis UMLS:C0340186|SCTID:1259003|NCIT:C35397|DOID:10330|ICD9:502 owl:Class MONDO:0017691 biolink:NamedThing erythrocyte galactose epimerase deficiency tmpaxzxjjyw_mondo_relaxed.owl erythrocyte GALE-D|erythrocyte UDP-galactose-4-epimerase deficiency|erythrocyte GALE deficiency|erythrocyte epimerase deficiency galactosemia|erythrocyte uridine diphosphate galactose-4-epimerase deficiency UMLS:C0574090|SCTID:297238008|Orphanet:308473|ICD10:E74.2 owl:Class CHEBI:51721 biolink:NamedThing alpha,beta-unsaturated ketone A ketone of general formula R(1)R(2)C=CR(3)-C(=O)R(4) (R(4) =/= H) or R(1)C#C-C(=O)R(2) (R(2) =/= H) in which the ketonic C=O function is conjugated to an unsaturated C-C bond at the alpha,beta position. tmpaxzxjjyw_mondo_relaxed.owl alpha,beta-unsaturated ketones owl:Class MONDO:0001645 biolink:NamedThing crescentic glomerulonephritis A histopathologic term for a pattern of diseases characterized by extensive crescent formation in the glomeruli; patients present clinically with rapid deterioration of renal function, and possible progression to end-stage renal failure within weeks or months. tmpaxzxjjyw_mondo_relaxed.owl crescentic glomerulonephritis|crescentic glomerulonephritis (disease) crescentic glomerulonephritis (disease) SCTID:236398000|DOID:13139|HP:0008653|ICD9:580.4|NCIT:C35444 owl:Class MONDO:0054577 biolink:NamedThing bleeding disorder, platelet-type, 21 tmpaxzxjjyw_mondo_relaxed.owl BDPLT21|bleeding disorder, platelet-type, 21 OMIM:617443 owl:Class UBERON:0002437 biolink:NamedThing cerebral hemisphere white matter tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011195 biolink:NamedThing Usher syndrome type 1E A form of Usher syndrome type I that features a novel locus for USH1, USH1E, mapping to chromosome band 21q21. It is inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl USH1E|Usher syndrome type IE|Usher syndrome, type 1E|USHER syndrome, type IE Orphanet:886|UMLS:C1865865|ICD10:H35.5|DOID:0110833|Orphanet:231169|GARD:0005439|OMIM:602097 https://rarediseases.info.nih.gov/diseases/5439/usher-syndrome-type-1e owl:Class MONDO:0008349 biolink:NamedThing pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities tmpaxzxjjyw_mondo_relaxed.owl pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities|Ciuffo syndrome UMLS:C1867407|MESH:C566733|OMIM:178650 owl:Class MONDO:0003307 biolink:NamedThing multiple mucosal neuroma tmpaxzxjjyw_mondo_relaxed.owl multiple mucosal neuromas DOID:5155|NCIT:C6559|UMLS:C1334828 owl:Class MONDO:0032568 biolink:NamedThing intellectual developmental disorder with macrocephaly, seizures, and speech delay tmpaxzxjjyw_mondo_relaxed.owl IDDMSSD|INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY OMIM:618158 owl:Class MONDO:0009804 biolink:NamedThing osteogenesis imperfecta type 3 Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI). tmpaxzxjjyw_mondo_relaxed.owl progressive deforming osteogenesis imperfecta|progressively deforming osteogenesis imperfecta with normal sclera|OI, type 3|OI type 3|osteogenesis imperfecta type III|osteogenesis imperfecta, progressively deforming, with normal sclerae|OI3|Oi3|progressively deforming OI|severe osteogenesis imperfecta|osteogenesis imperfecta, type 3|osteogenesis imperfecta, type III|osteogenesis imperfecta type 3|OI type III|osteogenesis imperfecta, progressively deforming with normal sclerae OMIM:259420|NCIT:C99002|OMIM:614856|OMIM:616229|Orphanet:216812|MESH:C536044|OMIM:610968|OMIM:613848|SCTID:385483009|UMLS:C0268362|ICD10:Q78.0|GARD:0008695|OMIM:615220|DOID:0110339|OMIM:610915|OMIM:613982|OMIM:259440|OMIM:610682 owl:Class MONDO:0020307 biolink:NamedThing benign childhood occipital epilepsy, Panayiotopoulos type Benign childhood occipital epilepsy, Panayiotopoulos type is a rare, genetic neurological disorder characterized by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalized convulsion. Autonomic status epilepticus may be the only clinical event in some cases. tmpaxzxjjyw_mondo_relaxed.owl early-onset benign childhood occipital epilepsy|Panayiotopoulos syndrome ICD9:345.80|UMLS:CN207127|Orphanet:98815|SCTID:230387008|ICD10:G40.0 owl:Class MONDO:0007660 biolink:NamedThing familial ossifying fibroma An instance of ossifying fibroma (disease) that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl Cementomas, familial multiple|hereditary ossifying fibroma (disease)|multiple ossifying fibroma|GIGANTIFORM cementoma, familial|cemental dysplasia, periapical|Jaffe-Campanacci syndrome|intracortical fibrous dysplasia UMLS:CN237560|ICD10:D16.4|GARD:0010887|OMIM:137575|MESH:C563017|Orphanet:435329 owl:Class MONDO:0008651 biolink:NamedThing vertebral hypoplasia with lumbar kyphosis tmpaxzxjjyw_mondo_relaxed.owl vertebral hypoplasia with lumbar kyphosis OMIM:192900|UMLS:C1860463|MESH:C566002 owl:Class MONDO:0032646 biolink:NamedThing congenital anomalies of kidney and urinary tract 3 tmpaxzxjjyw_mondo_relaxed.owl CAKUT3|CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3 OMIM:618270 owl:Class MONDO:0012210 biolink:NamedThing migraine with aura, susceptibility to, 7 tmpaxzxjjyw_mondo_relaxed.owl migraine with aura, susceptibility to, type 7|migraine with aura, susceptibility to, 7|Mgr7 UMLS:C1836670|OMIM:609179 owl:Class MONDO:0015558 biolink:NamedThing isolated bone marrow mastocytosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:158778|ICD10:C96.2 owl:Class UBERON:8410057 biolink:NamedThing capillary of colon tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010681 biolink:NamedThing myelolymphatic insufficiency tmpaxzxjjyw_mondo_relaxed.owl Myelolymphatic insufficiency|Pelger-like anomaly with leukopenia and susceptibility to infections OMIM:310350|UMLS:C1839650 owl:Class MONDO:0022975 biolink:NamedThing diaphragmatic agenesis radial aplasia omphalocele tmpaxzxjjyw_mondo_relaxed.owl GARD:0001843 https://rarediseases.info.nih.gov/diseases/1843/diaphragmatic-agenesis-radial-aplasia-omphalocele owl:Class MONDO:0011952 biolink:NamedThing amyotrophic lateral sclerosis type 7 tmpaxzxjjyw_mondo_relaxed.owl ALS7|amyotrophic lateral sclerosis 7 Orphanet:803|GARD:0010500|UMLS:C1842674|OMIM:608031|DOID:0060199|MESH:C564300 https://rarediseases.info.nih.gov/diseases/10500/amyotrophic-lateral-sclerosis-type-7 owl:Class MONDO:0023134 biolink:NamedThing febrile ulceronecrotic mucha-habermann disease Febrile ulceronecrotic Mucha-Habermann disease (FUMHD) is a rare and severe form of pityriasis lichenoides et varioliformis acuta (PLEVA). PLEVA is characterized by skin lesions that ulcerate, breakdown, form open sores, then form a red-brown crust. FUMHD often begins as PLEVA, but then rapidly and suddenly progresses to large, destructive ulcers. There may be fever and extensive, painful loss of skin tissue as well as secondary infection of the ulcers. Diagnosis of FUMHD is confirmed by biopsy of skin lesions. FUMHD occurs more frequently in children, peaking at age 5 to 10. Males tend to be affected more often than females. While some cases of FUMHD have resolved without therapy, others have resulted in death. Early diagnosis and prompt treatment may help to reduce morbidity and death. tmpaxzxjjyw_mondo_relaxed.owl A severe variant of pityriasis lichenoides et varioliformis acuta (PLEVA)|FUMHD|ulceronecrotic Mucha-Habermann disease|variant of Mucha-Habermann disease|febrile ulceronecrotic mucha-habermann disease|febrile ulceronecrotic pityriasis lichenoides acuta UMLS:C1274297|SCTID:402860008|GARD:0009516|MESH:C537077 https://rarediseases.info.nih.gov/diseases/9516/febrile-ulceronecrotic-mucha-habermann-disease owl:Class MONDO:0023148 biolink:NamedThing fetal phenothiazine syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0002311 https://rarediseases.info.nih.gov/diseases/2311/fetal-phenothiazine-syndrome owl:Class MONDO:0019649 biolink:NamedThing idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis tmpaxzxjjyw_mondo_relaxed.owl idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis Orphanet:93206|UMLS:CN206521|ICD10:N04.1 owl:Class MONDO:0002984 biolink:NamedThing reticulohistiocytic granuloma A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003 tmpaxzxjjyw_mondo_relaxed.owl solitary reticulohistiocytoma|solitary Reticulohistiocytoma|Reticulohistiocytoma|solitary histiocytoma|reticulohistiocytic granuloma (morphologic abnormality)|solitary reticulohistiocytosis GARD:0012967|UMLS:C0035290|SCTID:404162004|DOID:4394|MESH:D015616|NCIT:C3356|ICD9:277.89 owl:Class MONDO:0026731 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 8 tmpaxzxjjyw_mondo_relaxed.owl HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 8|CHNG8 OMIM:301033 owl:Class MONDO:0005848 biolink:NamedThing miliary tuberculosis I would say the hematogenous widespread dissemination of tuberculosis in the body. The term derives from the chest X-ray image of the tiny (1-5 mm) tuberculosis lesions which are seen through out the lung parenchyma. tmpaxzxjjyw_mondo_relaxed.owl disseminated tuberculosis|generalized tuberculosis|tuberculosis miliaris disseminata|acute miliary tuberculosis ICD10:A19.9|DOID:9861|SCTID:47604008|ICD9:018.90|UMLS:C0041321|ICD9:018|MESH:D014391|NCIT:C35086|EFO:0007368|UMLS:C0152915|ICD9:018.9|ICD9:018.80|ICD10:A19 owl:Class MONDO:0009412 biolink:NamedThing scurvy Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Scurvy can be cured with vitamin C supplements taken by mouth. Once recovery is complete, dietary modifications to ensure the 'recommended daily intake' of vitamin C is reached will prevent relapse. Except in the case of severe dental disease, permanent damage from scurvy does not usually occur. tmpaxzxjjyw_mondo_relaxed.owl L-gulonolactone oxidase, nonfunctional|hypoascorbemia|vitamin C deficiency|L-gulonolactone oxidase pseudogene|scurvy|Gulo, nonfunctional|scorbutus|vitamin C, inability to synthesize|deficiency of vitamin C SCTID:76169001|NCIT:C35010|ICD10:E54|DOID:13724|OMIM:240400|GARD:0010406|MESH:D012614|MedDRA:10039768|EFO:1001169|UMLS:C0036474 An argument can be made that Vitamin C deficiency is a genetic disease shared by all humans, due to our loss of the GULO gene. See OMIM for discussion. Here we choose not to treat as genetic. https://rarediseases.info.nih.gov/diseases/10406/scurvy owl:Class MONDO:0020426 biolink:NamedThing malposition of the coronary ostium Malposition of the coronary ostium is a rare coronary artery congenital malformation characterized by displacement of one of the coronary arteries, originating closer to the aortic root or to the commissural area. The anomaly is considered to be asymptomatic, however, it may impose surgical difficulties during aortic root surgery. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:99090|ICD10:Q24.5 owl:Class BFO:0000006 biolink:NamedThing spatial region tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005543 biolink:NamedThing autoimmune hepatitis type 1 Autoimmune hepatitis characterized by the presence of antinuclear antibody (ANA) and antismooth-muscle antibody (ASMA). tmpaxzxjjyw_mondo_relaxed.owl autoimmune hepatitis type 1|type 1 AIH SCTID:197284004|SCTID:721711009|ICD9:571.49|Orphanet:563576 owl:Class MONDO:0023691 biolink:NamedThing maple syrup urine disease type 1A A maple syrup urine disease caused by mutations in BCKDHA. tmpaxzxjjyw_mondo_relaxed.owl maple syrup urine disease type 1A|MSUD type 1A OMIM:248600|GARD:0008594 https://rarediseases.info.nih.gov/diseases/8594/maple-syrup-urine-disease-type-1a owl:Class CL:0019031 biolink:NamedThing intestine goblet cell Goblet cells reside throughout the length of the small and large intestine and are responsible for the production and maintenance of the protective mucus blanket by synthesizing and secreting high-molecular-weight glycoproteins known as mucins. Human intestinal goblet cells secrete the MUC2 mucin, as well as a number of typical mucus components: CLCA1, FCGBP, AGR2, ZG16, and TFF3. tmpaxzxjjyw_mondo_relaxed.owl intestinal goblet cell 2020-10-14 14:59:07+00:00 owl:Class MONDO:0017250 biolink:NamedThing congenital pulmonary airway malformation type 2 tmpaxzxjjyw_mondo_relaxed.owl congenital cystic adenomatous malformation of the lung type 2|congenital cystic adenomatoid malformation of the lung type 2|CPAM type 2|congenital cystic disease of the lung type 2|CCAM type 2 ICD10:Q33.0|Orphanet:280840 owl:Class MONDO:0006746 biolink:NamedThing endomyocardial fibrosis A disease characterized by fibrotic thickening of the endocardium, particularly the right and/or left inflow tracts. The disease often involves the atrioventricular valves, leading to valvular regurgitaion. It most commonly occurs in children living within 15 degrees of the equator. tmpaxzxjjyw_mondo_relaxed.owl obscure African cardiomyopathy|endomyocardial sclerosis|African endomyocardial fibrosis DOID:12932|GARD:0006340|ICD9:425.0|NCIT:C34585|MESH:D004719|MedDRA:10014800|EFO:1000921 https://rarediseases.info.nih.gov/diseases/6340/endomyocardial-fibrosis owl:Class MONDO:0018016 biolink:NamedThing classic neuroendocrine tumor of appendix Classic endocrine tumor of the appendix is a type of endocrine tumor of the appendix, seen twice as frequently in females than in males, and usually presenting before the fifth decade of life. Classic endocrine tumor of the appendix is usually asymptomatic when located in the tip of the appendix (without obstruction), but acute appendicitis is often associated. tmpaxzxjjyw_mondo_relaxed.owl classic appendix neuroendocrine tumor|classic appendiceal neuroendocrine tumor UMLS:CN204231|ICD10:D37.3|Orphanet:329977 owl:Class HGNC:9751 biolink:NamedThing QARS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:451870 biolink:NamedThing Chaetothyriomycetidae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012425 biolink:NamedThing corneal dystrophy, fuchs endothelial, 2 tmpaxzxjjyw_mondo_relaxed.owl corneal dystrophy, Fuchs endothelial, late-onset|Fcd1 locus|corneal dystrophy, Fuchs endothelial, 2|FECD2 UMLS:C1857800|OMIM:610158|Orphanet:98974 owl:Class MONDO:0000988 biolink:NamedThing discharging ear Discharge or drainage of fluid from the ear. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35199|ICD9:388.60|ICD10:H92.10|ICD9:388.6|DOID:10261|ICD10:H92.1 owl:Class MONDO:0016480 biolink:NamedThing silver-Russell syndrome due to an imprinting defect of 11p15 tmpaxzxjjyw_mondo_relaxed.owl Silver-Russell syndrome due to an imprinting defect of type 11p15 ICD10:Q87.1|Orphanet:231140|UMLS:CN201475 owl:Class MONDO:0014958 biolink:NamedThing Harel-Yoon syndrome tmpaxzxjjyw_mondo_relaxed.owl Harel-Yoon syndrome; HAYOS|HAYOS|Harel-Yoon syndrome OMIM:617183|UMLS:C4310677 owl:Class CHEBI:25513 biolink:NamedThing neutral glycosphingolipid Any glycosphingolipid containing unsubstituted glycosyl moieties. tmpaxzxjjyw_mondo_relaxed.owl neutral glycosphingolipids owl:Class NCBITaxon:10798 biolink:NamedThing Human parvovirus B19 tmpaxzxjjyw_mondo_relaxed.owl B19 virus|Parvovirus B19|Erythrovirus B19|Human erythrovirus B19 GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012462 biolink:NamedThing autosomal recessive frontotemporal pachygyria tmpaxzxjjyw_mondo_relaxed.owl pachygyria, frontotemporal GARD:0010003|UMLS:C1853215|OMIM:610279|Orphanet:329329|MESH:C538092|ICD10:Q04.3 owl:Class MONDO:0007601 biolink:NamedThing familial Mediterranean fever, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl Fmf, autosomal dominant|familial Mediterranean fever, autosomal dominant Orphanet:342|OMIM:134610|UMLS:C1851347|MESH:C565021 owl:Class MONDO:0044329 biolink:NamedThing osteogenesis imperfecta, type 18 Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}). tmpaxzxjjyw_mondo_relaxed.owl OI18|osteogenesis imperfecta, type XVIII UMLS:CN244563|OMIM:617952 owl:Class MONDO:0007730 biolink:NamedThing histiocytic dermatoarthritis tmpaxzxjjyw_mondo_relaxed.owl histiocytic dermatoarthritis OMIM:142730|MESH:C564183|UMLS:C1840551 owl:Class MONDO:0013682 biolink:NamedThing vesicoureteral reflux 4 tmpaxzxjjyw_mondo_relaxed.owl vesicoureteral reflux 4|VUR4 Orphanet:289365|OMIM:614317|UMLS:C3280439 owl:Class ENVO:03520007 biolink:NamedThing snow crystal A water ice crystal which is constituted by water molecules aligned in a hexagonal array. tmpaxzxjjyw_mondo_relaxed.owl snowflake owl:Class MONDO:0020979 biolink:NamedThing pilosebaceous hamartoma A hamartoma characterized by localized pilosebaceous apparatus malformation. tmpaxzxjjyw_mondo_relaxed.owl pilosebaceous hamartoma NCIT:C5565 owl:Class MONDO:0006946 biolink:NamedThing renal osteodystrophy Abnormalities of bone mineral metabolism associated with chronic kidney disease. tmpaxzxjjyw_mondo_relaxed.owl renal rickets|Osteodystrophies, renal|osteodystrophy, renal|rickets, renal|renal Osteodystrophies NCIT:C114827|MedDRA:10038489|DOID:13068|ICD10:N25.0|EFO:1001152|GARD:0007551|SCTID:16726004|UMLS:C0035086|MESH:D012080|ICD9:588.0 owl:Class MONDO:0004451 biolink:NamedThing sarcomatous intrahepatic cholangiocarcinoma A rare, aggressive variant of intrahepatic cholangiocarcinoma. It is characterized by the presence of adenocarcinoma cells that are intermingled with malignant pleomorphic spindle cells. tmpaxzxjjyw_mondo_relaxed.owl sarcomatoid intrahepatic cholangiocarcinoma|intrahepatic cholangiocarcinoma with extensive sarcomatous changes DOID:8072|NCIT:C41620|UMLS:C1519184 owl:Class HGNC:6062 biolink:NamedThing ING1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018951 biolink:NamedThing distal myopathy with vocal cord weakness Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction. tmpaxzxjjyw_mondo_relaxed.owl MPD2|distal myopathy 2|VCPDM|MATR3-related distal myopathy|vocal cord and pharyngeal distal myopathy Orphanet:600|GARD:0001887|OMIM:606070|ICD10:G71.0|UMLS:CN205357 owl:Class MONDO:0001641 biolink:NamedThing severe pre-eclampsia Preeclampsia with a systolic blood pressure of 160 mmHg or higher, or a diastolic blood pressure of 110 mmHg or higher on two occasions at least 4 hours apart while on bedrest. It is associated with thrombocytopenia (platelets less than 100,000 per microliter), impaired liver function (twice normal elevation of hepatic transaminases; severe, persistent right upper quadrant or epigastric pain), progressive renal insufficiency (serum creatinine greater than 1.1 mg/dL or doubling of baseline in the absence of other renal disease), pulmonary edema, or new-onset cerebral or visual disturbances. tmpaxzxjjyw_mondo_relaxed.owl severe preeclampsia|postpartum severe pre-eclampsia|antepartum severe pre-eclampsia|severe pre-eclampsia, with delivery|Preeclampsia with severe features ICD9:642.50|DOID:13129|NCIT:C112843 owl:Class GO:0004155 biolink:NamedThing 6,7-dihydropteridine reductase activity Catalysis of the reaction: NADP+ + 5,6,7,8-tetrahydropteridine = NADPH + H+ + 6,7-dihydropteridine. tmpaxzxjjyw_mondo_relaxed.owl DHPR activity|dihydropteridine reductase activity|NAD(P)H(2):6,7-dihydropteridine oxidoreductase activity|NADPH-dihydropteridine reductase activity|6,7-dihydropteridine:NAD(P)H oxidoreductase activity|NADH-dihydropteridine reductase activity|dihydropteridine reductase (NADH) activity|NADPH-specific dihydropteridine reductase activity|NAD(P)H2:6,7-dihydropteridine oxidoreductase activity|dihydropteridine (reduced nicotinamide adenine dinucleotide) reductase activity|5,6,7,8-tetrahydropteridine:NAD(P)+ oxidoreductase activity|5,6,7,8-tetrahydropteridine:NAD(P)H+ oxidoreductase activity|dihydropteridine reduction owl:Class UBERON:2001073 biolink:NamedThing axial vasculature tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002272 biolink:NamedThing polyclonal hypergammaglobulinemia A laboratory test result indicating abnormally high proliferation of gamma globulins in the blood originating from multiple cell lines. tmpaxzxjjyw_mondo_relaxed.owl polyclonal hypergammaglobulinemia ICD9:273.0|NCIT:C35885|ICD10:D89.0|SCTID:190808009|UMLS:C0154254|DOID:2344 Editor note: check HP:0003459 Polyclonal elevation of IgM owl:Class MONDO:0015773 biolink:NamedThing fibular dimelia-diplopodia syndrome Fibular dimelia-diplopodia syndrome is a rare developmental anomaly. tmpaxzxjjyw_mondo_relaxed.owl leg duplication-mirror foot syndrome SCTID:720953006|ICD10:Q74.8|UMLS:CN200350|Orphanet:1757 owl:Class IAO:8000016 biolink:NamedThing taxonomic bridge ontology module tmpaxzxjjyw_mondo_relaxed.owl taxonomic bridge ontology module owl:Class HGNC:1069 biolink:NamedThing BMP2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011064 biolink:NamedThing lethal chondrodysplasia, Seller type tmpaxzxjjyw_mondo_relaxed.owl chondrodysplasia, lethal, with long bone angulation and mixed bone density|lethal chondrodysplasia seller type OMIM:601376|MESH:C563330|Orphanet:1421|ICD10:Q77.8|UMLS:C1832410|GARD:0003226 https://rarediseases.info.nih.gov/diseases/3226/lethal-chondrodysplasia-seller-type owl:Class HGNC:18453 biolink:NamedThing NAXE tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024612 biolink:NamedThing manic bipolar affective disorder The manic phase of bipolar disorder. tmpaxzxjjyw_mondo_relaxed.owl manic-depressive - now manic|bipolar affective disorder, current episode manic|manic bipolar affective disorder SCTID:191618007|NCIT:C34805 owl:Class MONDO:0010948 biolink:NamedThing cataract 10 multiple types Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYBA1 gene. tmpaxzxjjyw_mondo_relaxed.owl CCZS|cataract, congenital zonular, with sutural opacities|early-onset non-syndromic cataract caused by mutation in CRYBA1|CRYBA1 early-onset non-syndromic cataract|CTRCT10|congenital zonular cataract with sutural opacities|cataract 10, multiple types MESH:C563435|DOID:0110258|UMLS:C1833229|Orphanet:98995|Orphanet:91492|OMIM:600881|ICD10:Q12.0|Orphanet:98985 owl:Class MONDO:0032870 biolink:NamedThing intellectual developmental disorder with short stature and behavioral abnormalities tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES|IDDSSBA OMIM:618687|DOID:0111674 owl:Class MONDO:0001048 biolink:NamedThing orbital granuloma A granuloma located on the orbit of the eye. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3653|ICD10:H05.11|SCTID:72776003|DOID:10499|UMLS:C0155262|ICD9:376.11 owl:Class MONDO:0000243 biolink:NamedThing ectothrix infectious disease A dermatophyte infection of the hair that infects the hair surface. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050097 owl:Class CL:2000086 biolink:NamedThing neocortex basket cell Any basket cell that is part of a neocortex. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-12-24T00:37:19Z cell owl:Class MONDO:0044725 biolink:NamedThing combined immunodeficiency due to GINS1 deficiency tmpaxzxjjyw_mondo_relaxed.owl combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia|CID due to GINS1 deficiency|IMD55|immunodeficiency 55 UMLS:CN737162|OMIM:617827|Orphanet:505227 https://github.com/monarch-initiative/mondo/issues/3191 owl:Class CL:2000089 biolink:NamedThing dentate gyrus of hippocampal formation granule cell The principal cell type of the dentate gyrus. tmpaxzxjjyw_mondo_relaxed.owl The granule cell has a characteristic cone-shaped tree of spiny apical dendrites. TermGenie 2015-02-23T05:48:23Z cell owl:Class MONDO:0011800 biolink:NamedThing glioma susceptibility 4 tmpaxzxjjyw_mondo_relaxed.owl glioma susceptibility 4|GLM4 Orphanet:182067|UMLS:C2750944|OMIM:607248 owl:Class HP:0000093 biolink:NamedThing Proteinuria Increased levels of protein in the urine. tmpaxzxjjyw_mondo_relaxed.owl Protein in urine|High urine protein levels UMLS:C0033687|SNOMEDCT_US:29738008|MSH:D011507 human_phenotype owl:Class HP:0020129 biolink:NamedThing Abnormal urine protein level Any deviation of the concentration of one or more proteins in the urine. tmpaxzxjjyw_mondo_relaxed.owl robinp 2019-07-05T16:29:22Z human_phenotype owl:Class MONDO:0017055 biolink:NamedThing mycophenolate mofetil embryopathy Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation. tmpaxzxjjyw_mondo_relaxed.owl MMF embryopathy SCTID:723406000|ICD10:Q86.8|UMLS:C4509879|Orphanet:268249 owl:Class MONDO:0008450 biolink:NamedThing spinal arachnoiditis A chronic adhesive arachnoiditis in the spinal arachnoid, with root and spinal cord symptoms similar to those caused by pressure from a tumor. tmpaxzxjjyw_mondo_relaxed.owl spinal arachnoiditis|arachnoiditis, spinal Orphanet:137817|MESH:C531624|NCIT:C50749|SCTID:426055002|UMLS:C1710146|OMIM:182950 owl:Class MONDO:0002551 biolink:NamedThing c-P angle neurinoma tmpaxzxjjyw_mondo_relaxed.owl cerebellopontine angle neurinoma|cerebellopontine angle schwannoma|cerebellar Pontine angle neurinoma NCIT:C5413|UMLS:C1332905|DOID:3199 owl:Class MONDO:0020445 biolink:NamedThing agenesis of the superior vena cava Agenesis of the superior vena cava (SVC) is a rare congenital anomaly of the great veins characterized by unilateral or bilateral complete absence of the SVC. Unilateral agenesis is mainly asymptomatic (most of the time diagnosed incidentally) and patients usually have otherwise normal heart structure. Bilateral agenesis, however, is frequently associated with other congenital cardiac anomalies and/or conduction abnormalities (such as tetralogy of Fallot, atrial septal defect) and typically present symptoms of SVC syndrome. tmpaxzxjjyw_mondo_relaxed.owl absence of the SVC|agenesis of the SVC|agenesis of the superior caval vein|absence of the superior caval vein|absence of the superior vena cava Orphanet:99114|ICD9:747.49|SCTID:204464007|ICD10:Q26.8 owl:Class ENVO:21001216 biolink:NamedThing ultraviolet radiation A radiation process during which electromagnetic waves or their quanta are emitted at wavelengths between 10 nm and 400 nm. tmpaxzxjjyw_mondo_relaxed.owl UV radiation owl:Class MONDO:0009718 biolink:NamedThing myxedema A condition characterized by severe hypothyroidism that is caused by autoimmune thyroid gland disorders, surgical reduction of thyroid tissue, radiation exposure, and viral infections. Signs and symptoms include generalized fatigue, lethargy, increased body weight, pale, edematous and thickened skin, low blood pressure, constipation and cold intolerance. tmpaxzxjjyw_mondo_relaxed.owl myxedema ICD10:E03.9|MedDRA:10028663|DOID:11634|MESH:D009230|EFO:1001055|UMLS:C0027145|NCIT:C34834|SCTID:43153006|OMIM:255900 Editor note: myxedema can also refer to a dermatological change that can occur in hypothyroidism and some forms of hyperthyroidism. owl:Class MONDO:0016407 biolink:NamedThing oligomeganephronia Oligomeganephronia is a developmental anomaly of the kidneys, and the most severe form of renal hypoplasia, characterized by a reduction of 80% in nephron number and a marked hypertrophy of the glomeruli and tubules. tmpaxzxjjyw_mondo_relaxed.owl Oligomeganephronic renal hypoplasia SCTID:18417009|UMLS:C0431694|Orphanet:2260|ICD10:Q60.4|NCIT:C123202|GARD:4066|DOID:0111142|GARD:0004066 owl:Class HGNC:24054 biolink:NamedThing KNL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005813 biolink:NamedThing interdigitating dendritic cell sarcoma A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008) tmpaxzxjjyw_mondo_relaxed.owl interdigitating cell sarcoma|interdigitating Dendritic cell sarcoma|interdigitating Dendritic cell sarcoma/tumor|interdigitating cell sarcoma/tumor ONCOTREE:IDCS|ICDO:9757/1|ICDO:9757/3|SCTID:715664005|EFO:0007329|ICD10:C96.4|MESH:D054739|NCIT:C9282|DOID:7848 owl:Class HGNC:7594 biolink:NamedThing MYO15A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006383 biolink:NamedThing primary cutaneous diffuse large B-cell lymphoma, Leg type An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required. tmpaxzxjjyw_mondo_relaxed.owl primary cutaneous diffuse large B-cell lymphoma, Leg type|PCDLBCL,LT NCIT:C45194|ICD10:C83.3|UMLS:C1709656|EFO:1000490|Orphanet:178544|ICDO:9680/3 owl:Class MONDO:0002990 biolink:NamedThing benign deep fibrous histiocytoma A rare, well-circumscribed, pseudo-encapsulated benign fibrous histiocytoma that arises entirely within the subcutaneous tissue or deep soft tissue. It usually affects the extremities or the head and neck region. It recurs locally in a minority of cases. tmpaxzxjjyw_mondo_relaxed.owl benign deep fibrous histiocytoma|deep benign fibrous histiocytoma UMLS:C1266125|NCIT:C6492|DOID:4419 owl:Class MONDO:0007530 biolink:NamedThing electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon tmpaxzxjjyw_mondo_relaxed.owl electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon OMIM:130200 owl:Class MONDO:0016995 biolink:NamedThing familial multiple meningioma Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:263662|OMIM:607174|UMLS:CN202309|ICD10:D32.9 owl:Class MONDO:0016308 biolink:NamedThing Niemann-Pick disease type C, late infantile neurologic onset tmpaxzxjjyw_mondo_relaxed.owl Orphanet:216978|UMLS:CN201114|ICD10:E75.2 owl:Class HGNC:4703 biolink:NamedThing GYPB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030911 biolink:NamedThing intellectual disability, autosomal dominant 46 tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant mental retardation 46|MRD46|autosomal dominant intellectual disability 46|intellectual disability, autosomal dominant 46|mental retardation, autosomal dominant 46 DOID:0080237|UMLS:CN371052|OMIM:617601 owl:Class MONDO:0032578 biolink:NamedThing cortical dysplasia, complex, with other brain malformations 9 tmpaxzxjjyw_mondo_relaxed.owl CDCBM9|CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 OMIM:618174 owl:Class MONDO:0005750 biolink:NamedThing ephemeral fever An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (ephemeral fever virus, bovine). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness. tmpaxzxjjyw_mondo_relaxed.owl EFO:0007258|UMLS:C0014481|MESH:D004810 owl:Class MONDO:0009994 biolink:NamedThing alveolar rhabdomyosarcoma A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities. tmpaxzxjjyw_mondo_relaxed.owl alveolar rhabdomyosarcoma (morphologic abnormality)|arms|rhabdomyosarcoma 2|alveolar rhabdomyosarcoma|rhabdomyosarcoma type 2|alveolar rhabdomyosarcoma (disease)|monomorphous round cell rhabdomyosarcoma|rhabdomyosarcoma alveolar|RMS2|alveolar childhood rhabdomyosarcoma|rhabdomyosarcoma, alveolar|pediatric alveolar rhabdomyosarcoma alveolar rhabdomyosarcoma (disease) EFO:0000248|UMLS:C0206655|HP:0006779|DOID:4051|Orphanet:780|Orphanet:99756|ICD10:C49.9|ICDO:8920/3|MedDRA:10065867|OMIM:268220|NCIT:C3749|ICD9:171.9|SCTID:404053004|MESH:D018232|GARD:0004701|ONCOTREE:ARMS owl:Class MONDO:0000244 biolink:NamedThing endothrix infectious disease A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050105 owl:Class MONDO:0054852 biolink:NamedThing peeling skin syndrome 6 tmpaxzxjjyw_mondo_relaxed.owl PSS6|peeling skin syndrome 6 OMIM:618084 owl:Class MONDO:0011637 biolink:NamedThing Sener syndrome tmpaxzxjjyw_mondo_relaxed.owl frontonasal dysplasia and dilated Virchow-Robin spaces|polycystic brain (cerebrum polycystica vera) associated with ectodermal dysplasia|Sener syndrome MESH:C537579|GARD:0008451|UMLS:C1853616|OMIM:606156 https://rarediseases.info.nih.gov/diseases/8451/sener-syndrome owl:Class MONDO:0015995 biolink:NamedThing melorheostosis with osteopoikilosis Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. tmpaxzxjjyw_mondo_relaxed.owl dystrophy osseous sclerosing mixed|MSBD syndrome|mixed sclerosing bone dystrophy GARD:0003800|ICD10:M85.8|UMLS:CN200621|GARD:0003690|Orphanet:1879|UMLS:C2931505 owl:Class MONDO:0009895 biolink:NamedThing postaxial polydactyly-dental and vertebral anomalies syndrome Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. tmpaxzxjjyw_mondo_relaxed.owl polydactyly, postaxial, with dental and vertebral anomalies UMLS:C1849732|MESH:C564880|ICD10:Q87.2|Orphanet:2916|OMIM:263540 owl:Class CL:0000896 biolink:NamedThing activated CD4-positive, alpha-beta T cell A recently activated CD4-positive, alpha-beta T cell with the phenotype CD69-positive, CD62L-negative, CD127-negative, and CD25-positive. tmpaxzxjjyw_mondo_relaxed.owl activated CD4-positive, alpha-beta T-lymphocyte|activated CD4-positive, alpha-beta T lymphocyte|activated CD4-positive, alpha-beta T-cell cell owl:Class MONDO:0019506 biolink:NamedThing obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. tmpaxzxjjyw_mondo_relaxed.owl SCTID:722051004|UMLS:CN227640|Orphanet:88643 owl:Class MONDO:0030840 biolink:NamedThing mismatch repair cancer syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl mismatch repair cancer syndrome 2|MMRCS2 OMIM:619096 owl:Class CHEBI:140499 biolink:NamedThing kaolinite An aluminosilicate mineral with approximate chemical composition H2Al2Si2O8.H2O. Rocks that are rich in kaolinite are known as kaolin or china clay. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:10066 biolink:NamedThing Muridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1|PMID:15371245 ncbi_taxonomy owl:Class MONDO:0007475 biolink:NamedThing duodenal ulcer, hyperpepsinogenemic 1 tmpaxzxjjyw_mondo_relaxed.owl duodenal ulcer, hyperpepsinogenemic I|duodenal Ulcer, hyperpepsinogenemic type 1 OMIM:126850|UMLS:C1852008|MESH:C565086 owl:Class MONDO:0010065 biolink:NamedThing spinocerebellar degeneration with slow eye movements tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar degeneration with slow eye movements|SDSEM OMIM:271322|UMLS:C0752121 Editor note: check this owl:Class MONDO:0012090 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 47 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 9p22-p21. tmpaxzxjjyw_mondo_relaxed.owl DFNA47|autosomal dominant nonsyndromic deafness 47|autosomal dominant deafness 47|autosomal dominant nonsyndromic deafness type 47|deafness, autosomal dominant 47 MESH:C563885|ICD10:H90.3|Orphanet:90635|UMLS:C1837609|DOID:0110570|OMIM:608652 owl:Class HGNC:9303 biolink:NamedThing PPP2R1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032905 biolink:NamedThing spastic paraplegia 81, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl SPG81|SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE OMIM:618768 owl:Class ECTO:7000020 biolink:NamedThing exposure to sand A exposure event involving the interaction of an exposure receptor to sand. tmpaxzxjjyw_mondo_relaxed.owl sand exposure owl:Class MONDO:0010955 biolink:NamedThing ectodermal dysplasia with intellectual disability and syndactyly tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia intellectual disability syndactyly|ectodermal dysplasia with mental retardation and syndactyly|ectodermal dysplasia with intellectual disability and syndactyly|ectodermal dysplasia mental retardation syndactyly MESH:C538018|OMIM:600906|GARD:0002052|UMLS:C1833169 owl:Class MONDO:0019897 biolink:NamedThing distal monosomy 12q tmpaxzxjjyw_mondo_relaxed.owl distal deletion 12q|monosomy 12qter|telomeric deletion 12q|distal monosomy type 12q ICD10:Q93.5|Orphanet:96149 owl:Class MONDO:0005669 biolink:NamedThing black piedra A superficial mycosis that is caused by Piedraia hortae and is manifested by a small firm black nodule involving the hair shaft. tmpaxzxjjyw_mondo_relaxed.owl EFO:0007171|UMLS:C0153249|DOID:12711|SCTID:402135006|ICD9:111.3|ICD10:B36.3|UMLS:C0031898|SCTID:33666009|MESH:D010854 owl:Class MONDO:0004100 biolink:NamedThing lung mixed small cell and squamous cell carcinoma A lung carcinoma characterized by a combination of small cell carcinoma and squamous cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl mixed small cell and squamous cell carcinoma of lung|combined small cell and squamous cell lung carcinoma|small cell and squamous cell carcinoma of lung|small cell and large cell carcinoma of the lung|small cell and squamous cell carcinoma of the lung|small cell and squamous cell lung carcinoma|mixed small cell and squamous cell carcinoma of the lung DOID:7081|NCIT:C9423|UMLS:C1334788 owl:Class MONDO:0009193 biolink:NamedThing epithelial squamous dysplasia, keratinizing desquamative, of urinary tract tmpaxzxjjyw_mondo_relaxed.owl epithelial squamous dysplasia, keratinizing desquamative, of urinary tract UMLS:C1856902|OMIM:226985|MESH:C565584 owl:Class HP:0020219 biolink:NamedThing Motor seizure A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. tmpaxzxjjyw_mondo_relaxed.owl This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. robinp 2020-02-24T14:20:36Z human_phenotype owl:Class FOODON:03411312 biolink:NamedThing wheat plant Wheat (*Triticum* spp.) is a domesticated grass from the Levant that is cultivated worldwide. Major cultivated species of wheat: * Common wheat or Bread wheat (*Triticum aestivum*) A hexaploid species that is the most widely cultivated in the world. * Durum (*Triticum durum*) The only tetraploid form of wheat widely used today, and the second most widely cultivated wheat. * Einkorn (*Triticum monococcum*) A diploid species with wild and cultivated variants. Domesticated at the same time as emmer wheat, but never reached the same importance. * Emmer (*Triticum dicoccon*) A tetraploid species, cultivated in ancient times but no longer in widespread use. * Spelt (*Triticum spelta*) Another hexaploid species cultivated in limited quantities. tmpaxzxjjyw_mondo_relaxed.owl owl:Class FOODON:03411017 biolink:NamedThing oil-producing plant tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007655 biolink:NamedThing fissured tongue tmpaxzxjjyw_mondo_relaxed.owl scrotal tongue|Furrowed tongue|glossitis, benign migratory|fissure of tongue|ectopic geographic tongue|congenital plicated tongue|congenital fissure of tongue|plicated tongue|erythema migrans|tongue, fissured|fissure of tongue, congenital|geographic and fissured tongue|lingua plicata|geographic tongue and fissured tongue OMIM:137400|GARD:0006493|UMLS:C1842051|UMLS:C0040412|MESH:D014063|ICD9:529.5|DOID:11514|ICD10:K14.5|SCTID:52368004|ICD9:750.13 owl:Class MONDO:0007505 biolink:NamedThing earring holes, natural tmpaxzxjjyw_mondo_relaxed.owl earlobe sinuses|earring holes, natural OMIM:129000 owl:Class MONDO:0017162 biolink:NamedThing imperforate oropharynx-costo vetebral anomalies syndrome Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989. tmpaxzxjjyw_mondo_relaxed.owl Seghers syndrome|imperforate oropharynx-costovertebral anomalies syndrome|imperforate oropharynx-costo vetebral anomalies Orphanet:2759|UMLS:CN202584|GARD:0002989 owl:Class MONDO:0012917 biolink:NamedThing specific language impairment 4 tmpaxzxjjyw_mondo_relaxed.owl specific language impairment 4|SLI4 OMIM:612514|MESH:C567288|UMLS:C2675874 owl:Class CL:0002537 biolink:NamedThing amnion mesenchymal stem cell A mesenchymal stem cell of the amnion membrane. tmpaxzxjjyw_mondo_relaxed.owl amniotic membrane stem cell tmeehan 2011-02-28T12:44:24Z cell owl:Class MONDO:0010905 biolink:NamedThing cone-rod dystrophy 1 tmpaxzxjjyw_mondo_relaxed.owl Crd1|CORD1|cone-rod dystrophy 1|CRD1|cone-rod dystrophy type 1 DOID:0111009|UMLS:C1833564|Orphanet:1872|GARD:0010651|MESH:C563469|OMIM:600624 https://rarediseases.info.nih.gov/diseases/10651/cone-rod-dystrophy-1 owl:Class MONDO:0032930 biolink:NamedThing intellectual developmental disorder with poor growth and with or without seizures or ataxia tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA|IDPOGSA OMIM:618808 owl:Class MONDO:0023204 biolink:NamedThing Fukuda-Miyanomae-Nakata syndrome tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, congenital, with central nervous system involvement|FCMD|muscular dystrophy, congenital, Fukuyama type|Cerebromuscular dystrophy, Fukuyama type|muscular dystrophy, congenital progressive, with mental retardation|muscular dystrophy, congenital progressive, with intellectual disability|Fukuyama type muscular dystrophy GARD:0006475|Orphanet:2060|OMIM:253800|Orphanet:272|GARD:0002411|UMLS:CN776933 https://rarediseases.info.nih.gov/diseases/2411/fukuda-miyanomae-nakata-syndrome|https://rarediseases.info.nih.gov/diseases/6475/fukuyama-type-muscular-dystrophy owl:Class MONDO:0007744 biolink:NamedThing cholesterol-ester transfer protein deficiency tmpaxzxjjyw_mondo_relaxed.owl high density lipoprotein cholesterol level quantitative trait locus 10|cholesterol ester transfer Protein deficiency|Hdlcq10|HALP1|hyperalphalipoproteinemia type 1|familial hyperalphalipoproteinemia|CETP deficiency|hyperalphalipoproteinemia 1|CEPT deficiency OMIM:143470|UMLS:CN205999|ICD10:E78.4|DOID:0111368|SCTID:15771000119109|UMLS:C3875011|OMIM:614028|Orphanet:79506|UMLS:C0342883 owl:Class HGNC:3258 biolink:NamedThing EIF2B2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0042908 biolink:NamedThing Schaap-Taylor-Baraitser syndrome tmpaxzxjjyw_mondo_relaxed.owl cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature|Schaap Taylor Baraitser syndrome GARD:0000248 owl:Class MONDO:0016242 biolink:NamedThing hemoglobin C disease Hemoglobin C disease (HbC) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin C, with no or mild clinical manifestations (hemolytic anemia). tmpaxzxjjyw_mondo_relaxed.owl Hb C disease|Hb-C disease MESH:C531699|Orphanet:2132|DOID:2859|ICD10:D58.2|MESH:D006445|GARD:0002640|SCTID:51053007|MedDRA:10018883|UMLS:C0019021|ICD9:282.7|NCIT:C34675 https://rarediseases.info.nih.gov/diseases/2640/hemoglobin-c-disease owl:Class MONDO:0010897 biolink:NamedThing schizophrenia 3 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD3 on chromosome 6p23. tmpaxzxjjyw_mondo_relaxed.owl schizophrenia 3 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 6-related|SCZD3|schizophrenia 3 DOID:0070079|UMLS:C1838069|OMIM:600511 owl:Class MONDO:0012780 biolink:NamedThing celiac disease, susceptibility to, 11 tmpaxzxjjyw_mondo_relaxed.owl gluten-sensitive enteropathy, susceptibility to, 11|CELIAC11|celiac disease, susceptibility to, 11 OMIM:612009 owl:Class MONDO:0002956 biolink:NamedThing skin cystic basal cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl cystic basal cell carcinoma|skin cystic basal cell carcinoma DOID:4302|SCTID:403912001|NCIT:C27537|UMLS:C1275193 owl:Class MONDO:0014069 biolink:NamedThing syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome tmpaxzxjjyw_mondo_relaxed.owl Wahab syndrome|Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome|camptodactyly, clinodactyly, syndactyly, and bifid toe syndrome|WAHAB syndrome OMIM:615170|ICD10:Q87.2|UMLS:C3554611|Orphanet:357332 owl:Class MONDO:0004673 biolink:NamedThing lower lip cancer A malignant neoplasm involving the lower lip. tmpaxzxjjyw_mondo_relaxed.owl malignant neoplasm of lower lip|cancer of lower lip|malignant lower lip neoplasm|lower lip cancer ICD9:140.1|ICD10:C00.1|DOID:8883|UMLS:C0432520|SCTID:363373004 owl:Class MONDO:0008148 biolink:NamedThing osteogenesis imperfecta type 4 Osteogenesis imperfecta type IV is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type IV have moderately short stature, mild to moderate scoliosis, grayish or white sclera, and dentinogenesis imperfecta (DI). tmpaxzxjjyw_mondo_relaxed.owl osteogenesis imperfecta, type 4|osteogenesis imperfecta with normal sclera|common variable OI with normal sclerae|OI4|osteogenesis imperfecta with normal sclerae|osteogenesis imperfecta type IV|OI, type 4|osteogenesis imperfecta, type IV|OI type 4|OI type IV OMIM:613849|GARD:0008696|OMIM:616507|OMIM:615066|OMIM:610682|MESH:C536045|OMIM:166220|DOID:0110340|OMIM:610968|ICD10:Q78.0|UMLS:C0268363|Orphanet:216820|OMIM:615220|SCTID:205497004|OMIM:613982|OMIM:259440|NCIT:C98576 owl:Class MONDO:0008169 biolink:NamedThing osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension tmpaxzxjjyw_mondo_relaxed.owl osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension|osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension OMIM:166990|MESH:C563478|UMLS:C1833688|GARD:0002277 owl:Class MONDO:0007314 biolink:NamedThing chemodectoma, intraabdominal, with cutaneous angiolipomas tmpaxzxjjyw_mondo_relaxed.owl abdominal chemodectomas with cutaneous angiolipomas|chemodectoma, intraabdominal, with cutaneous angiolipomas MESH:C535552|OMIM:118350|UMLS:C2930928|GARD:0001265 owl:Class MONDO:0042490 biolink:NamedThing neutropenia, severe congenital, 1, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl SCN1|neutropenia, severe congenital, 1, autosomal dominant OMIM:202700|UMLS:C1859966|Orphanet:486|DOID:0080625|MESH:C565969 owl:Class MONDO:0015038 biolink:NamedThing lissencephaly with cerebellar hypoplasia type E Lissencephaly with cerebellar hypoplasia type E (LCHe) is a form of lissencephaly with cerebellar hypoplasia, characterized by an abrupt transition from agyria to gyral simplification, near the boundary between frontal and parietal cortex, microcephaly (B1 3 SD) and brainstem hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:100015|UMLS:CN228904|ICD10:Q04.3 owl:Class HGNC:4838 biolink:NamedThing SERPIND1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:23147 biolink:NamedThing UNC13D tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032738 biolink:NamedThing gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy tmpaxzxjjyw_mondo_relaxed.owl GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY|GDRM OMIM:618419 owl:Class MONDO:0060593 biolink:NamedThing actn3 deficiency tmpaxzxjjyw_mondo_relaxed.owl ACTN3 deficiency|sprinting performance|Alpha-actinin-3 deficiency 2022-04-01 OMIM:617749 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0044656 biolink:NamedThing epidermolytic nevus tmpaxzxjjyw_mondo_relaxed.owl epidermolytic epidermal nevus|epidermolytic verrucous epidermal nevus|Epidermal nevus with epidermolytic hyperkeratosis Orphanet:497737|UMLS:C1302848|SCTID:400142003 owl:Class HP:0011376 biolink:NamedThing Morphological abnormality of the vestibule of the inner ear A morphological abnormality of the vestibule, the central part of the osseous labyrinth that is situated medial to the tympanic cavity, behind the cochlea, and in front of the semicircular canals. tmpaxzxjjyw_mondo_relaxed.owl Vestibular abnormality UMLS:C0542259 The vestibular system consists of five distinct components, three semicircular canals that are sensitive to angular acceleration and two otolith organs that are sensitive to linear acceleration. peter 2012-03-07T08:35:08Z human_phenotype owl:Class MONDO:0001252 biolink:NamedThing Plummer disease Nodular enlargement of the thyroid gland associated with hyperthyroidism. tmpaxzxjjyw_mondo_relaxed.owl Toxic goiter|toxic nodular goiter|Plummer's disease|Plummer disease DOID:11277|SCTID:57777000|NCIT:C35171|ICD10:E05.2|UMLS:C0342127|EFO:0009191|ICD9:242.30|ICD9:242.3 owl:Class MONDO:0011123 biolink:NamedThing type 1 diabetes mellitus 15 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21. tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 15|insulin-dependent diabetes mellitus 15|IDDM15 DOID:0110753|ICD10:E10|UMLS:C1866519|OMIM:601666|MESH:C566645 owl:Class MONDO:0012134 biolink:NamedThing myoclonic epilepsy, juvenile, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl EJM3|myoclonic epilepsy, juvenile, susceptibility to, 3 DOID:0111326|Orphanet:307|OMIM:608816|UMLS:C1837308 owl:Class MONDO:0009956 biolink:NamedThing red skin pigment anomaly of new guinea tmpaxzxjjyw_mondo_relaxed.owl red skin pigment anomaly of new guinea|Red skin pigment, New Guinea type GARD:0009757|MESH:C535515|OMIM:266350|UMLS:C1849451 https://rarediseases.info.nih.gov/diseases/9757/red-skin-pigment-anomaly-of-new-guinea owl:Class MONDO:0007433 biolink:NamedThing dementia/parkinsonism with non-Alzheimer amyloid plaques tmpaxzxjjyw_mondo_relaxed.owl dementia/parkinsonism with non-Alzheimer amyloid plaques MESH:C565115|UMLS:C1852223|OMIM:125320 owl:Class MONDO:0009594 biolink:NamedThing metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982. tmpaxzxjjyw_mondo_relaxed.owl metaphyseal chondrodysplasia, Kaitila type MESH:C565400|UMLS:C1855217|Orphanet:166038|OMIM:250230 owl:Class MONDO:0054677 biolink:NamedThing combined oxidative phosphorylation deficiency 33 tmpaxzxjjyw_mondo_relaxed.owl COXPD33|combined oxidative phosphorylation deficiency 33 UMLS:C4540209|EFO:0009159|OMIM:617713|DOID:0111495 owl:Class UBERON:0005321 biolink:NamedThing mesonephric smooth muscle tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008687 biolink:NamedThing Woronets trait tmpaxzxjjyw_mondo_relaxed.owl Woronets trait OMIM:194320 owl:Class CL:0000311 biolink:NamedThing keratin accumulating cell tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0032823 biolink:NamedThing intellectual developmental disorder 60 with seizures tmpaxzxjjyw_mondo_relaxed.owl Mental Retardation, Autosomal Dominant 60, With Seizures|INTELLECTUAL DEVELOPMENTAL DISORDER 60 WITH SEIZURES|MRD60 OMIM:618587 owl:Class HGNC:21732 biolink:NamedThing ANTXR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008189 biolink:NamedThing papillomatosis, florid, of nipple A rare benign neoplasm that arises in the area of the nipple. Clinically, it usually presents as a tender erythematous crusting lesion with hardening of the nipple. Morphologically, there is proliferation of ducts lined with epithelial and myoepithelial cells and focal erosion of the epidermis. tmpaxzxjjyw_mondo_relaxed.owl erosive nipple adenomatosis|erosive adenomatosis of the nipple|papillomatosis florid of nipple|erosive adenomatosis of nipple|florid papillomatosis of the nipple|papillomatosis, florid, of nipple|florid papillomatosis OMIM:167950|NCIT:C4383|MESH:C537167|GARD:0010174|UMLS:C1868647|SCTID:237467005 https://rarediseases.info.nih.gov/diseases/10174/florid-papillomatosis-of-the-nipple owl:Class NCBITaxon:121227 biolink:NamedThing Pthirus tmpaxzxjjyw_mondo_relaxed.owl Phthirus|Phtirus GC_ID:1 ncbi_taxonomy owl:Class SO:0000988 biolink:NamedThing circular A quality of a nucleotide polymer that has no terminal nucleotide residues. tmpaxzxjjyw_mondo_relaxed.owl zero-ended owl:Class HP:0010950 biolink:NamedThing Abnormal fourth ventricle morphology An abnormality of the fourth ventricle. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the fourth ventricle UMLS:C4023630 The fourth ventricle is the cerebral ventricle that extends from the cerebral aqueduct to the obex, and is located within the pons and the upper part of the medulla oblongata. peter 2011-01-17T12:58:00Z human_phenotype owl:Class MONDO:0006739 biolink:NamedThing Ehrlich tumor carcinoma A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms. tmpaxzxjjyw_mondo_relaxed.owl Ehrlich's tumor DOID:5050|UMLS:C0007125|EFO:1000913|MESH:D002286 owl:Class HGNC:9802 biolink:NamedThing RAC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017547 biolink:NamedThing congenital vertical talus, bilateral tmpaxzxjjyw_mondo_relaxed.owl Orphanet:295203|ICD10:Q66.8 owl:Class MONDO:0018260 biolink:NamedThing scalp syndrome tmpaxzxjjyw_mondo_relaxed.owl sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome|sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome ICD10:Q84.8|Orphanet:370052 owl:Class MONDO:0032867 biolink:NamedThing pancreatic cancer, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl PANCREATIC CANCER, SUSCEPTIBILITY TO, 5|PNCA5 OMIM:618680 owl:Class MONDO:0004352 biolink:NamedThing adult brain ependymoma An ependymoma of the brain occurring in adults. tmpaxzxjjyw_mondo_relaxed.owl adult brain ependymoma|brain ependymoma UMLS:C1332186|NCIT:C9372|DOID:7750 owl:Class MONDO:0006246 biolink:NamedThing high grade surface osteosarcoma A usually aggressive high grade malignant bone-forming mesenchymal neoplasm arising from the surface of the bone. tmpaxzxjjyw_mondo_relaxed.owl high grade surface osteosarcoma|high-grade surface osteosarcoma ONCOTREE:HGSOS|UMLS:C1266165|ICDO:9194/3|NCIT:C53958|EFO:1000296 owl:Class HGNC:8109 biolink:NamedThing ODC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19331 biolink:NamedThing MMAB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014502 biolink:NamedThing mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections. tmpaxzxjjyw_mondo_relaxed.owl ISG15 deficiency, autosomal recessive|immunodeficiency 38, Mycobacteriosis, autosomal recessive|immunodeficiency 38 with basal ganglia calcification|MSMD due to complete ISG15 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15|IMD38|ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency UMLS:C4015293|ICD10:D84.8|OMIM:616126|Orphanet:319563 Editor note: In ORDO classified at type 1 interferonopathy but we exclude this, as it is an autoinflammatory disease owl:Class HGNC:6562 biolink:NamedThing LGALS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012781 biolink:NamedThing celiac disease, susceptibility to, 12 tmpaxzxjjyw_mondo_relaxed.owl CELIAC12|celiac disease, susceptibility to, 12|gluten-sensitive enteropathy, susceptibility to, 12 OMIM:612010 owl:Class MONDO:0025487 biolink:NamedThing murine acquired immunodeficiency syndrome Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (Mulv). The syndrome shows striking similarities with human aids and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas. tmpaxzxjjyw_mondo_relaxed.owl murine AIDS|murine acquired immuno-deficiency syndrome|murine acquired immuno deficiency syndrome|MAIDS|AIDS, murine|murine AIDSs|murine acquired immune deficiency syndrome MESH:D016183 owl:Class MONDO:0024316 biolink:NamedThing physiological malfunction arising from mental factor A dysfunction in biological function that is due to a psychological process. tmpaxzxjjyw_mondo_relaxed.owl physiological malfunction arising from mental Factor UMLS:C0154548|NCIT:C35186 owl:Class HP:0001097 biolink:NamedThing Keratoconjunctivitis sicca Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. tmpaxzxjjyw_mondo_relaxed.owl Keratitis sicca|Dry eye syndrome|Xerophthalmia|Dry eyes UMLS:C0013238|SNOMEDCT_US:46152009|UMLS:C0043349|SNOMEDCT_US:363677007|MSH:D014985|UMLS:C2930821|MSH:C531719|SNOMEDCT_US:302896008|MSH:D007638|UMLS:C0022575|MSH:D015352 human_phenotype owl:Class MONDO:0017157 biolink:NamedThing pulmonary hypertension owing to lung disease and/or hypoxia tmpaxzxjjyw_mondo_relaxed.owl PH due to lung disease and/or hypoxia|PH owing to lung disease and/or hypoxia|pulmonary hypertension due to lung disease and/or hypoxia UMLS:CN202580|SCTID:697910001|ICD10:I27.2|ICD9:416.8|UMLS:C3698136|Orphanet:275837 owl:Class MONDO:0001809 biolink:NamedThing adhesions of uterus tmpaxzxjjyw_mondo_relaxed.owl band of uterus|intrauterine synechiae SCTID:361115000|ICD9:621.5|UMLS:CN199257|DOID:13812 owl:Class MONDO:0010551 biolink:NamedThing Charcot-Marie-Tooth disease X-linked recessive 3 X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. tmpaxzxjjyw_mondo_relaxed.owl Charcot Marie Tooth disease X-linked recessive 3|CMTX3|Charcot-Marie-Tooth disease X-linked recessive type 3|CMT3X|Charcot-Marie-Tooth disease, X-linked recessive, 3|CMTX 3|Charcot-Marie-Tooth neuropathy X-linked recessive 3|X-linked Charcot-Marie-Tooth disease type 3|Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 SCTID:763458005|MESH:C535303|GARD:0001244|UMLS:C1844865|ICD10:G60.0|DOID:0110211|OMIM:302802|Orphanet:101077 owl:Class MONDO:0010861 biolink:NamedThing type 1 diabetes mellitus 3 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 15q26. tmpaxzxjjyw_mondo_relaxed.owl insulin-dependent diabetes mellitus 3|IDDM3|diabetes mellitus, insulin-dependent, 3 UMLS:C1838262|ICD10:E10|DOID:0110742|MESH:C563960|OMIM:600318 owl:Class MONDO:0008616 biolink:NamedThing twinning due to superfetation tmpaxzxjjyw_mondo_relaxed.owl superfetation twinning|twinning due to superfetation 2022-04-01 OMIM:191250|MESH:C566018 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class UBERON:0035110 biolink:NamedThing lateral plantar nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007616 biolink:NamedThing fibula, recurrent dislocation of head of tmpaxzxjjyw_mondo_relaxed.owl fibula, recurrent dislocation of head of MESH:C565011|OMIM:135800|UMLS:C1851099 owl:Class HP:0006562 biolink:NamedThing Viral hepatitis Inflammation of the liver due to infection with a virus. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:3738000|UMLS:C0042721 human_phenotype owl:Class UBERON:0005808 biolink:NamedThing bone tissue of long bone tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8967 biolink:NamedThing PIGN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008559 biolink:NamedThing thrombophilia due to thrombin defect The formation of a blood clot (thrombus) in the lumen of a vein. tmpaxzxjjyw_mondo_relaxed.owl thrombosis, protection against|THPH1|venous thrombosis|prothrombin thrombophilia|thrombophilia due to thrombin defect|factor II-related thrombophilia|prothrombin G20210A thrombophilia|hyperprothrombinemia|prothrombin 20210G>A thrombophilia|thrombophilia due to Factor 2 defect|prothrombin-related thrombophilia|Venous thromboembolism SCTID:111293003|UMLS:C0398623|ICD9:453.9|GARD:0010815|OMIM:188050 owl:Class MONDO:0009037 biolink:NamedThing craniosynostosis with anomalies of the cranial base and digits tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis with anomalies of the cranial base and digits UMLS:C1857493|OMIM:218530|MESH:C565666 owl:Class MONDO:0013213 biolink:NamedThing hearing loss, cisplatin-induced, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl CIHL|hearing loss, cisplatin-induced, susceptibility to OMIM:613290 owl:Class MONDO:0011625 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 18 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22. tmpaxzxjjyw_mondo_relaxed.owl DFNA18|autosomal dominant deafness 18|autosomal dominant nonsyndromic deafness type 18|deafness, autosomal dominant 18|autosomal dominant nonsyndromic deafness 18 Orphanet:90635|DOID:0110549|UMLS:C1853760|ICD10:H90.3|OMIM:606012|MESH:C565267 owl:Class MONDO:0004222 biolink:NamedThing ovarian clear cell cystadenocarcinoma A malignant glandular epithelial neoplasm arising from the ovary. It is characterized by the presence of clear and hobnail cells and cystic structures. tmpaxzxjjyw_mondo_relaxed.owl ovarian clear cell cystadenocarcinoma NCIT:C7980|UMLS:C0279667|DOID:7438 owl:Class MONDO:0002960 biolink:NamedThing polyradiculopathy A radiculopathy that is present in more than one nerve. tmpaxzxjjyw_mondo_relaxed.owl DOID:4307|NCIT:C34934|MESH:D011128|SCTID:75572007|ICD9:356.9|UMLS:C0032586 owl:Class MONDO:0011999 biolink:NamedThing otosclerosis 3 tmpaxzxjjyw_mondo_relaxed.owl otosclerosis 3|OTSC3 OMIM:608244|MESH:C564268|UMLS:C1842353 owl:Class MONDO:0033361 biolink:NamedThing developmental and epileptic encephalopathy, 52 tmpaxzxjjyw_mondo_relaxed.owl EIEE52|DEE52|epileptic encephalopathy, early infantile, 52 Orphanet:1934|OMIM:617350|UMLS:C4479236|DOID:0080455 owl:Class MONDO:0022673 biolink:NamedThing autosomal dominant non-nuclear cataract tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonnuclear polymorphic congenital cataract|cataract, polymorphic congenital|CCP|cataract, Nonnuclear polymorphic congenital, autosomal dominant|cataract congenital dominant non nuclear|PCC GARD:0001144|MESH:C538284 https://rarediseases.info.nih.gov/diseases/1144/cataract-congenital-dominant-non-nuclear owl:Class MONDO:0003967 biolink:NamedThing synchronous multifocal osteogenic sarcoma A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered within 6 months of the appearance of the initial tumor. It has a poor prognosis. tmpaxzxjjyw_mondo_relaxed.owl synchronous multifocal osteosarcoma NCIT:C6471|UMLS:C1336544|DOID:6696 owl:Class MONDO:0002622 biolink:NamedThing multifocal osteogenic sarcoma A primary bone osteosarcoma affecting multiple bone sites. tmpaxzxjjyw_mondo_relaxed.owl multifocal osteosarcoma|multicentric osteosarcoma UMLS:C1334820|NCIT:C6470|DOID:3360 owl:Class MONDO:0016736 biolink:NamedThing rosette-forming glioneuronal tumor of fourth ventricule A central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal. tmpaxzxjjyw_mondo_relaxed.owl dysembryoplastic neuroepithelial tumor of cerebellum|rosette-forming glioneuronal tumor|DNT of the cerebellum|RGNT UMLS:CN201984|NCIT:C129431|UMLS:C4331262|Orphanet:251975 owl:Class MONDO:0001186 biolink:NamedThing depersonalization disorder A disorder characterized by persistent or recurrent episodes of feeling detached from one's self (either one's body or one's mental processes), although the sufferer remains aware that this is only a feeling and does not represent reality. tmpaxzxjjyw_mondo_relaxed.owl neurotic derealization GARD:0006260|ICD9:300.6|SCTID:70764005|NCIT:C94331|DOID:11038 https://rarediseases.info.nih.gov/diseases/6260/depersonalization-disorder owl:Class MONDO:0005861 biolink:NamedThing multidrug-resistant tuberculosis A type of drug-resistant tuberculosis that is resistant to both rifampicin and isoniazid, the two most powerful anti-TB drugs. tmpaxzxjjyw_mondo_relaxed.owl multidrug-resistant TB|MDR-TB UMLS:C0206526|NCIT:C128415|EFO:0007381|SCTID:423092005|DOID:401|MESH:D018088 owl:Class MONDO:0030876 biolink:NamedThing cardioacrofacial dysplasia 1 tmpaxzxjjyw_mondo_relaxed.owl cardioacrofacial dysplasia 1|CAFD1 OMIM:619142 owl:Class MONDO:0005019 biolink:NamedThing diffuse scleroderma A variant of systemic scleroderma characterized by sclerosis of the skin, Raynaud phenomenon, and organ involvement, including pulmonary fibrosis, renal disease, and gastrointestinal tract involvement. tmpaxzxjjyw_mondo_relaxed.owl systemic sclerosis, diffuse|diffuse systemic sclerosis DOID:1580|NCIT:C116791|MESH:D045743|EFO:0000404 owl:Class HGNC:2699 biolink:NamedThing DDX3Y tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016466 biolink:NamedThing asbestosis A lung disorder caused by inhalation of asbestos fibers. It results in fibrosis of the lung parenchyma. Signs and symptoms include coughing, shortness of breath and chest pain. tmpaxzxjjyw_mondo_relaxed.owl idiopathic interstitial pneumonitis - from asbestos exposure|pneumoconiosis from asbestos dust|asbestos intoxination|pulmonary fibrosis - from asbestos exposure|asbestos dust pneumoconiosis|asbestosis|asbestos intoxication|asbestos pneumoconiosis GARD:0005852|NCIT:C84573|Orphanet:2302|EFO:0007153|SCTID:22607003|MESH:D001195|ICD10:J61|ICD9:501|DOID:10320|CSP:2596-4484|UMLS:C0003949 owl:Class HGNC:6998 biolink:NamedThing MEFV tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032918 biolink:NamedThing developmental and epileptic encephalopathy, 84 tmpaxzxjjyw_mondo_relaxed.owl DEE84|Jamuar Syndrome|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84|EIEE84|epileptic encephalopathy, early infantile, 84 OMIM:618792 owl:Class MONDO:0007591 biolink:NamedThing facial hypertrichosis tmpaxzxjjyw_mondo_relaxed.owl facial hypertrichosis|facial hypertrichosis (disease) facial hypertrichosis (disease) 2022-04-01 OMIM:134000|MESH:C565029|HP:0002219 Reason: is a phenotype and not a disease. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: HP:0002219 HP:0002219 owl:Class UBERON:0006936 biolink:NamedThing thymus subcapsular epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011657 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 24 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 4q35-qter. tmpaxzxjjyw_mondo_relaxed.owl DFNA 24|autosomal dominant deafness 24|autosomal dominant nonsyndromic deafness 24|DFNA24|deafness, autosomal dominant nonsyndromic sensorineural 24|deafness, autosomal dominant 24|autosomal dominant nonsyndromic deafness type 24 OMIM:606282|MESH:C565239|DOID:0110554|UMLS:C1853451|GARD:0009166|ICD10:H90.3 owl:Class MONDO:0020405 biolink:NamedThing straddling and/or overriding mitral valve tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q23.8|Orphanet:99064 owl:Class MONDO:0019818 biolink:NamedThing cleft mitral valve tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q23.3|Orphanet:95465 owl:Class UBERON:0010316 biolink:NamedThing germ layer / neural crest tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3625 biolink:NamedThing FCN3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023664 biolink:NamedThing spermatogenic failure 54 tmpaxzxjjyw_mondo_relaxed.owl SPGF54 OMIM:619379 owl:Class MONDO:0007675 biolink:NamedThing glutamic acid decarboxylase, brain, membrane form tmpaxzxjjyw_mondo_relaxed.owl glutamic acid decarboxylase, brain, membrane form OMIM:138277 owl:Class MONDO:0030871 biolink:NamedThing vertebral hypersegmentation and orofacial anomalies tmpaxzxjjyw_mondo_relaxed.owl VHO OMIM:619122 owl:Class CL:0002538 biolink:NamedThing intrahepatic cholangiocyte An epithelial cell of the intrahepatic portion of the bile duct. These cells are flattened or cuboidal in shape, and have a small nuclear-to-cytoplasmic ratio relative to large/extrahepatic cholangiocytes. tmpaxzxjjyw_mondo_relaxed.owl small bile duct cholangiocyte tmeehan 2011-02-28T01:20:20Z cell owl:Class MONDO:0013089 biolink:NamedThing schizophrenia 13 A schizophrenia that has material basis in a mutation on chromosome 15q13. tmpaxzxjjyw_mondo_relaxed.owl schizophrenia 13|SCZD13|schizophrenia susceptibility locus, chromosome 15Q13-q14-related|schizophrenia, Neurophysiologic defect 1N OMIM:613025|DOID:0070089|UMLS:C2751663 owl:Class MONDO:0016379 biolink:NamedThing erosive pustular dermatosis of the scalp Erosive pustular dermatosis of the scalp is a rare chronic inflammation of the scalp usually occurring in elderly women (>70 years old) and characterized by the development of painful pustules, shallow erosions, and crusting on atrophic skin that eventually result in cicatricial alopecia. tmpaxzxjjyw_mondo_relaxed.owl GARD:0002188|UMLS:C0406464|Orphanet:222|SCTID:238733003 https://rarediseases.info.nih.gov/diseases/2188/erosive-pustular-dermatosis-of-the-scalp owl:Class HGNC:2185 biolink:NamedThing COL10A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0016553 biolink:NamedThing respiratory system mucus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012449 biolink:NamedThing spinocerebellar ataxia type 23 Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia 23|SCA23|spinocerebellar ataxia type 23 MESH:C537201|OMIM:610245|DOID:0050973|Orphanet:101108|GARD:0009950|ICD10:G11.2|SCTID:718772002|UMLS:C4305146|UMLS:C1853250 owl:Class MONDO:0018244 biolink:NamedThing obesity due to SIM1 deficiency tmpaxzxjjyw_mondo_relaxed.owl ICD10:E66.8|Orphanet:369873 owl:Class MONDO:0011249 biolink:NamedThing torsion dystonia with onset in infancy A dystonia characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. tmpaxzxjjyw_mondo_relaxed.owl torsion dystonia with onset in infancy MESH:C536969|Orphanet:256|OMIM:602554|DOID:0090058|ICD10:G24.1|UMLS:C1865205 owl:Class MONDO:0013830 biolink:NamedThing keratoconus 5 tmpaxzxjjyw_mondo_relaxed.owl KTCN5|keratoconus 5 UMLS:C3553302|OMIM:614622 owl:Class MONDO:0032567 biolink:NamedThing isolated growth hormone deficiency, type 4 tmpaxzxjjyw_mondo_relaxed.owl Dwarfism of Sindh|Isolated Growth Hormone Deficiency, Type Ib, Formerly|IGHD4|Isolated Growth Hormone Deficiency, Type Ib|ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV OMIM:618157 owl:Class MONDO:0054724 biolink:NamedThing spermatogenic failure 20 tmpaxzxjjyw_mondo_relaxed.owl SPGF20|spermatogenic failure 20 DOID:0070166|OMIM:617593 owl:Class MONDO:0054802 biolink:NamedThing erythrocytosis, familial, 7 tmpaxzxjjyw_mondo_relaxed.owl erythrocytosis, FAMILIAL, 7|polycythemia, Alpha-globin type|erythrocytosis, Alpha-globin type|ECYT7 DOID:0111631|UMLS:CN244942|OMIM:617981 owl:Class MONDO:0007832 biolink:NamedThing interferon antiviral depressor tmpaxzxjjyw_mondo_relaxed.owl interferon antiviral depressor OMIM:147560 owl:Class MONDO:0100373 biolink:NamedThing acute myeloid leukemia, inv(16)(p13.1;q22) Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.1;q22). (A chromosomal inversion that involves chromosome 16. It is associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.) tmpaxzxjjyw_mondo_relaxed.owl AML, inv(16)(p13.1;q22.1)|AML, inv(16)(p13q22)|AML, inv(16)(p13.1;q22)|AML, inv(16)(p13;q22)|AML, inv(16)(p13.1q22)|AML, inv(16)(p13.1q22.1) NCIT:C9018|NCIT:C36373 owl:Class GO:0023019 biolink:NamedThing signal transduction involved in regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another. tmpaxzxjjyw_mondo_relaxed.owl regulation of gene expression as a consequence of signal transmission owl:Class MONDO:0025062 biolink:NamedThing encephalomyelitis, enzootic porcine A picornavirus infection producing symptoms similar to poliomyelitis in pigs. tmpaxzxjjyw_mondo_relaxed.owl poliomyelitis, porcine|porcine encephalomyelitis, enzootic|enzootic porcine encephalomyelitis|disease, Teschen|Talfan disease|porcine poliomyelitis|disease, Talfan|Teschen disease MESH:D004682 owl:Class MONDO:0008744 biolink:NamedThing alar cartilages hypoplasia-coloboma-telecanthus syndrome Alar cartilages hypoplasia- coloboma- telecanthus is a very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. tmpaxzxjjyw_mondo_relaxed.owl coloboma of alar-nasal cartilages with telecanthus|alar-nasal cartilages, coloboma of, with telecanthus|frontonasal dysplasia with alar clefts GARD:0000588|UMLS:C1859964|ICD10:Q75.8|Orphanet:2007|OMIM:203000|MESH:C535967 owl:Class MONDO:0040998 biolink:NamedThing Pasteurella multocida infectious disease tmpaxzxjjyw_mondo_relaxed.owl infection by Pasteurella multocida|infection caused by Pasteurella multocida GARD:0009774|UMLS:C1260911|SCTID:197718007 owl:Class GO:0070224 biolink:NamedThing sulfide:quinone oxidoreductase activity Catalysis of the reaction: hydrogen sulfide + a quinone = S0 + a hydroquinone. tmpaxzxjjyw_mondo_relaxed.owl sulfide-quinone reductase activity|sulphide:quinone oxidoreductase activity owl:Class GO:0016672 biolink:NamedThing oxidoreductase activity, acting on a sulfur group of donors, quinone or similar compound as acceptor Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces quinone or a related compound. tmpaxzxjjyw_mondo_relaxed.owl oxidoreductase activity, acting on sulphur group of donors, quinone or similar compound as acceptor owl:Class MONDO:0017699 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form tmpaxzxjjyw_mondo_relaxed.owl GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|glycogenosis type IV, childhood combined hepatic and myopathic form|glycogenosis type 4, childhood combined hepatic and myopathic form|glycogen storage disease type 4, childhood combined hepatic and myopathic form|GSDIV, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form|glycogen storage disease type IV, childhood combined hepatic and myopathic form|GBE deficiency, childhood combined hepatic and myopathic form|GSD type 4, childhood combined hepatic and myopathic form MedDRA:10053250|OMIM:232500|ICD10:E74.0|Orphanet:308684 owl:Class MONDO:0017097 biolink:NamedThing isolated focal cortical dysplasia type Ib tmpaxzxjjyw_mondo_relaxed.owl FCD type IB ICD10:Q04.8|UMLS:CN202454|Orphanet:268980 owl:Class MONDO:0004132 biolink:NamedThing anal canal squamous cell carcinoma A squamous cell carcinoma arising from the mucosa of the anal canal. tmpaxzxjjyw_mondo_relaxed.owl squamous cell carcinoma of the anal canal|anal canal squamous cell carcinoma UMLS:C1332262|ICD10:C21.1|NCIT:C7469|Orphanet:424019|DOID:7177 owl:Class HGNC:10906 biolink:NamedThing SLC10A2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0023650 biolink:NamedThing littoral cell angioma of the spleen Littoral cell angioma is a rare primary vascular neoplasm of the spleen, composed of littoral cells that line the splenic sinuses of the red pulp. It was thought to be a benign, incidental lesion. However, many recent reports have described it to be a malignant lesion with congenital and immunological associations. The definitive diagnosis can only be made after histology and immunohistochemistry studies. tmpaxzxjjyw_mondo_relaxed.owl littoral cell angioma UMLS:C1627365|SCTID:418040002|MESH:C537031|GARD:0009714 https://rarediseases.info.nih.gov/diseases/9714/littoral-cell-angioma-of-the-spleen owl:Class PATO:0001406 biolink:NamedThing binucleate A nucleate quality inhering in a bearer by virtue of the bearer's having two nuclei. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:2743694 biolink:NamedThing Cyprininae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0016840 biolink:NamedThing trisomy 17p Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. tmpaxzxjjyw_mondo_relaxed.owl trisomy type 17p|17p trisomy|17p duplication|partial trisomy 17p|dup(17p)|chromosome 17p duplication|Duplication 17p ICD10:Q92.2|SCTID:717049005|GARD:0005318|Orphanet:261290|MESH:C538048|UMLS:C0795865 owl:Class MONDO:0008132 biolink:NamedThing optic atrophy with demyelinating disease of CNS tmpaxzxjjyw_mondo_relaxed.owl optic atrophy with demyelinating disease of CNS DOID:0111756|OMIM:165200|UMLS:C1833830|Orphanet:99718|MESH:C563496 owl:Class MONDO:0011155 biolink:NamedThing vacuolar Neuromyopathy tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, autosomal dominant, with rimmed vacuoles|vacuolar Neuromyopathy MESH:C566617|OMIM:601846|UMLS:C1866139 owl:Class MONDO:0043077 biolink:NamedThing weinstein kliman scully syndrome tmpaxzxjjyw_mondo_relaxed.owl primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities|cardiomyopathy, hypogonadism and metabolic anomalies UMLS:C2931289|GARD:0000392|MESH:C536688 owl:Class MONDO:0032588 biolink:NamedThing periventricular nodular heterotopia 8 tmpaxzxjjyw_mondo_relaxed.owl PVNH8|PERIVENTRICULAR NODULAR HETEROTOPIA 8 OMIM:618185 owl:Class HGNC:9115 biolink:NamedThing PMM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012306 biolink:NamedThing cardiomyopathy, familial restrictive, 2 tmpaxzxjjyw_mondo_relaxed.owl RCM2|cardiomyopathy, familial restrictive, 2 OMIM:609578|UMLS:C1865071|Orphanet:75249|DOID:0111426|MESH:C566512 owl:Class MONDO:0002162 biolink:NamedThing fallopian tube adenosarcoma An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component. tmpaxzxjjyw_mondo_relaxed.owl adenosarcoma of fallopian tube|fallopian tube mullerian adenosarcoma|fallopian tube adenosarcoma|fallopian tube Mullerian adenosarcoma|fallopian tube Müllerian adenosarcoma UMLS:C1517121|NCIT:C40125|DOID:1973 owl:Class MONDO:0010862 biolink:NamedThing type 1 diabetes mellitus 4 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 11q13. tmpaxzxjjyw_mondo_relaxed.owl insulin-dependent diabetes mellitus 4|IDDM4|diabetes mellitus, insulin-dependent, 4 OMIM:600319|MESH:C563959|UMLS:C1838261|ICD10:E10|DOID:0110743 owl:Class MONDO:0007066 biolink:NamedThing adenosine triphosphatase deficiency, anemia due to tmpaxzxjjyw_mondo_relaxed.owl adenosine triphosphatase deficiency, anemia due to|anemia due to adenosine triphosphatase deficiency|adenosine triphosphatase deficiency anemia GARD:0000548|UMLS:C1863225|SCTID:725057008|Orphanet:1044|OMIM:102800|MESH:C566311 https://rarediseases.info.nih.gov/diseases/548/anemia-due-to-adenosine-triphosphatase-deficiency owl:Class HGNC:30939 biolink:NamedThing ZFHX4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000871 biolink:NamedThing T-cell childhood acute lymphocytic leukemia An acute lymphoblastic leukemia of T-cell origin occurring in children. tmpaxzxjjyw_mondo_relaxed.owl T-cell childhood acute lymphocytic leukemia|childhood T-ALL|T-cell childhood acute lymphoblastic leukemia|childhood T acute lymphoblastic leukemia|T-cell pediatric ALL|childhood T-cell acute lymphoblastic leukemia|childhood precursor T-lymphoblastic leukemia|T acute lymphoblastic leukemia|T-cell pediatric acute lymphoblastic leukemia|T-cell pediatric acute lymphocytic leukemia|T-cell childhood ALL UMLS:C0279583|EFO:1001947|NCIT:C7953|DOID:0080145 owl:Class MONDO:0017515 biolink:NamedThing brachydactyly of fingers, unilateral tmpaxzxjjyw_mondo_relaxed.owl short fingers, unilateral ICD10:Q71.8|Orphanet:295128 owl:Class MONDO:0011848 biolink:NamedThing headache associated with sexual activity tmpaxzxjjyw_mondo_relaxed.owl HSA|headache associated with sexual activity|benign sexual headache ICD10:G44.82|OMIM:607504 owl:Class MONDO:0001870 biolink:NamedThing acute poststreptococcal glomerulonephritis Acute post streptococcal glomerulonephritis is an immunologic response of the kidney to infection, characterized by the sudden appearance of edema, hematuria, proteinuria and hypertension. It is essentially a disease of childhood that accounts for approximately 90% of renal disorders in children. The disease occurs especially in children between the ages of 2 and 12 years and young adults, and more often in male than in female. tmpaxzxjjyw_mondo_relaxed.owl post-streptococcal glomerulonephritis UMLS:C0403414|DOID:14064|SCTID:68544003|NCIT:C35443 owl:Class MONDO:0010165 biolink:NamedThing ulna hypoplasia-intellectual disability syndrome Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation. tmpaxzxjjyw_mondo_relaxed.owl ulna hypoplasia with intellectual disability|mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation|ulnar hypoplasia with intellectual disability|bilateral ulnar hypoplasia and mental retardation|mesomelia of the upper limbs, anonychia congenita, clubfeet, and intellectual disability|ulna hypoplasia with mental retardation|bilateral ulnar hypoplasia and intellectual disability|mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation|mesomelia of the upper limbs, absent nails, clubfeet, and intellectual disability|ulnar hypoplasia with mental retardation ICD10:Q87.2|GARD:0005398|UMLS:C2931370|OMIM:276821|UMLS:C1848650|MESH:C564757|Orphanet:2249 owl:Class MONDO:0012770 biolink:NamedThing prostate cancer, hereditary, 15 tmpaxzxjjyw_mondo_relaxed.owl HPC15|prostate cancer, hereditary, 15 OMIM:611959|UMLS:C2677771|Orphanet:1331|MESH:C567447 owl:Class MONDO:0009935 biolink:NamedThing pulmonary hypertension, primary, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl pulmonary hypertension, primary, autosomal recessive OMIM:265400|MESH:C564862|Orphanet:422|UMLS:C1849552 owl:Class CL:0002121 biolink:NamedThing CD24-negative CD38-negative IgG-negative class switched memory B cell A CD24-negative CD38-negative IgG-negative memory B cell is a CD38-negative IgG-negative class switched memory B cell that lacks IgG on the cell surface with the phenotype CD24-negative, CD38-negative, and IgG-negative. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0021116 biolink:NamedThing luminal A breast carcinoma A biologic subset of breast carcinoma defined by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. This subtype of breast cancer is associated with a good prognosis. tmpaxzxjjyw_mondo_relaxed.owl Luminal A breast cancer|Luminal A estrogen receptor positive subtype of breast carcinoma|Luminal A|Luminal A breast carcinoma|Luminal A subtype of breast carcinoma UMLS:C3642345|NCIT:C53554 owl:Class MONDO:0020316 biolink:NamedThing acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.AMML is one type of acute myeloid leukemia, a group of blood cancers that occur when the amount of white blood cells increases rapidly. Symptoms of AMML often include fatigue (due to anemia) or easy bruising or bleeding (due to thrombocytopenia). The cause of AMML is currently unknown. Treatment typically consists of chemotherapy. tmpaxzxjjyw_mondo_relaxed.owl acute myelomonocytic leukemia|CBFB-MYH11|AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)|AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) GARD:0000536|ICD10:C92.5|Orphanet:98829 https://rarediseases.info.nih.gov/diseases/536/acute-myeloid-leukemia-with-abnormal-bone-marrow-eosinophils-inv16p13q22-or-t1616p13q22 owl:Class MONDO:0015401 biolink:NamedThing maxillary arteriovenous malformation Maxillary arteriovenous malformation is a rare vascular anomaly characterized by an abnormal connection of the arterial and venous vasculature, without capillary connections, in the maxillofacial area, usually presenting with chronic, intermittent, and potentially life-threatening, hemorrhage. Association with infection, pain, pressure, pulsation, swelling, facial asymmetry, headache, ocular pain, tinnitus, otalgia, epistaxis, toothache and/or teeth mobility and compressibility into their sockets is possible, although it may also be asymptomatic. tmpaxzxjjyw_mondo_relaxed.owl arteriovenous malformation of maxilla SCTID:703335004|ICD10:Q27.3|Orphanet:141171 owl:Class MONDO:0004613 biolink:NamedThing acute intestinal ischemia Ischemia of the intestine that is rapid in onset. tmpaxzxjjyw_mondo_relaxed.owl acute intestinal vascular insufficiency|acute intestinal ischemia DOID:8590|UMLS:C0001363|ICD9:557.0|NCIT:C34356|SCTID:91489000 owl:Class MONDO:0011811 biolink:NamedThing autosomal recessive cerebellar ataxia-saccadic intrusion syndrome Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome is a rare hereditary ataxia characterized by a progressive cerebellar ataxia associated with disruption of visual fixation by saccadic intrusions (overshooting horizontal saccades with macrosaccadic oscillations and increased velocity of larger saccades). It presents with progressive gait, trunk and limb ataxia with pyramidal tract signs (increased tendon reflexes and Babinski sign), myoclonic jerks, fasciculations, cerebellar dysarthria, sensorimotor axonal neuropathy with impaired joint position, vibration, temperature, pain sensations, pes cavus, and saccadic intrusions with characteristic overshooting horizontal saccades, macrosaccadic oscillations, and increased velocity of larger saccades, without other eye movement disturbances. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia 24, formerly|SCASI|spinocerebellar ataxia, autosomal recessive 4|spinocerebellar ataxia autosomal recessive 4|spinocerebellar ataxia 24 (formerly)|SCAR4|spinocerebellar ataxia with saccadic Intrusions|spinocerebellar ataxia 24 UMLS:C1846492|MESH:C537310|Orphanet:95434|OMIM:607317|DOID:0111611|GARD:0004952|ICD10:G11.1 owl:Class MONDO:0009328 biolink:NamedThing hemangiomatosis, cutaneous, with associated features tmpaxzxjjyw_mondo_relaxed.owl hemangiomatosis, cutaneous, with associated features MESH:C562438|OMIM:234800|UMLS:C0220738 owl:Class MONDO:0035892 biolink:NamedThing Mills syndrome A rare, acquired motor neuron disease characterized by a slowly progressive, unilateral, ascending or descending hemplegia, associated to unilateral or asymmetrical pyramidal signs and no sensory loss. It is a diagnosis of exclusion and contorversy exists regarding whether the presence of bulbar symptoms, sphincter disturbances, fasciculations or cognitive manifestations characterize the disease. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:94091 owl:Class HGNC:18550 biolink:NamedThing IER3IP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011027 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 1 tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, noninsulin-dependent, type 1|NIDDM1|noninsulin-dependent diabetes mellitus 1|diabetes mellitus, noninsulin-dependent, 1 UMLS:C1832544|OMIM:601283|MESH:C563359 owl:Class MONDO:0012949 biolink:NamedThing aneurysm, intracranial berry, 9 tmpaxzxjjyw_mondo_relaxed.owl ANIB9|aneurysm, intracranial BERRY, 9 OMIM:612586|UMLS:C2675485|MESH:C567238 owl:Class MONDO:0010719 biolink:NamedThing radiation sensitivity of natural killer activity tmpaxzxjjyw_mondo_relaxed.owl radiation sensitivity of natural killer activity|X-Ray Nk sensitivity MESH:C564066|OMIM:312210|UMLS:C1839408 owl:Class MONDO:0032872 biolink:NamedThing ciliary dyskinesia, primary, 42 tmpaxzxjjyw_mondo_relaxed.owl CILD42|Ciliary Dyskinesia, Primary, 42, Without Situs Inversus|CILIARY DYSKINESIA, PRIMARY, 42 OMIM:618695 owl:Class MONDO:0017426 biolink:NamedThing postaxial polydactyly of fingers tmpaxzxjjyw_mondo_relaxed.owl postaxial polydactyly of hand GARD:0012460|SCTID:205131007|ICD10:Q69.0|Orphanet:294942 Editor note: check owl:Class MONDO:0004560 biolink:NamedThing follicular infundibulum tumor tmpaxzxjjyw_mondo_relaxed.owl basal cell hamartoma with follicular differentiation|tumor of follicular infundibulum|follicular infundibulum neoplasm|neoplasm of the follicular infundibulum|tumor of the follicular infundibulum DOID:8426|SCTID:254694002|NCIT:C4469|ICD9:239.2|UMLS:C0346006 owl:Class MONDO:0016235 biolink:NamedThing complex vascular malformation with associated anomalies tmpaxzxjjyw_mondo_relaxed.owl hemangiolymphangioma 2022-03-01 Orphanet:211277 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: vascular anomaly' MONDO_0019063 owl:Class MONDO:0012386 biolink:NamedThing trichoscyphodysplasia tmpaxzxjjyw_mondo_relaxed.owl metaphyseal chondrodysplasia with ectodermal dysplasia|metaphyseal chondrodysplasia with cone-Shaped epiphyses and alopecia|cupped metaphyses and cone-Shaped epiphyses with alopecia|Trichoscyphodysplasia UMLS:C1864943|MESH:C536557|GARD:0009861|OMIM:609990 https://rarediseases.info.nih.gov/diseases/9861/trichoscyphodysplasia owl:Class MONDO:0008417 biolink:NamedThing sclerocornea, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl sclerocornea, autosomal dominant Orphanet:91490|OMIM:181700|MESH:C566692 owl:Class MONDO:0009195 biolink:NamedThing erythema of acral regions tmpaxzxjjyw_mondo_relaxed.owl erythema of acral regions OMIM:227000 owl:Class MONDO:0019854 biolink:NamedThing thyroid ectopia Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. tmpaxzxjjyw_mondo_relaxed.owl ICD10:E03.1|Orphanet:95712|OMIM:225250|OMIM:218700 owl:Class PATO:0001401 biolink:NamedThing oligopotent A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity. tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:6199 biolink:NamedThing Cestoda tmpaxzxjjyw_mondo_relaxed.owl tapeworms GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020670 biolink:NamedThing antithrombin deficiency type 2 tmpaxzxjjyw_mondo_relaxed.owl antithrombmin III deficiency Type II|antithrombin deficiency type 2|Inherited antithrombin deficiency type II MESH:C537779|GARD:0010182 owl:Class MONDO:0010819 biolink:NamedThing Stargardt disease 3 tmpaxzxjjyw_mondo_relaxed.owl STGD3|Stargardt disease type 3|Stargardt disease 3|Stargardt-like macular dystrophy, autosomal dominant|macular dystrophy with flecks, type 3 OMIM:600110|Orphanet:827|UMLS:C1838644|MESH:C535805 owl:Class MONDO:0004461 biolink:NamedThing vaginal tubulovillous adenoma An adenoma that arises from the vagina and is characterized by a tubulovillous architectural pattern. tmpaxzxjjyw_mondo_relaxed.owl vaginal tubulovillous adenoma DOID:8104|UMLS:C1519933|NCIT:C40258 owl:Class MONDO:0006232 biolink:NamedThing giant cell tumor of soft tissue A painless, well circumscribed tumor arising in soft tissue, usually of the upper and lower extremities. Morphologically, it is characterized by a multinodular growth pattern. The cellular infiltrate is composed of mononuclear round or oval cells and multinucleated osteoclast-like giant cells, in a rich vascular stroma. It rarely metastasizes. tmpaxzxjjyw_mondo_relaxed.owl Osteoclastoma of soft tissue|GCT-ST|giant cell tumor of soft tissue UMLS:C0334553|NCIT:C49107|EFO:1000281|ICDO:9251/1 owl:Class UBERON:0008896 biolink:NamedThing post-hyoid pharyngeal arch tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010729 biolink:NamedThing X-linked intellectual disability, Schimke type X-linked mental retardation, Schimke type, is characterised by intellectual deficit, growth retardation with short stature, deafness and ophthalmoplegia. Choreoathetosis with muscle spasticity generally appears during childhood. It has been described in four boys, three of whom were from the same family. Transmission is X-linked. tmpaxzxjjyw_mondo_relaxed.owl childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and intellectual disability, ophthalmoplegia, and deafness|choreoathetosis with intellectual disability X- linked|choreoathetosis with mental retardation, X-linked|Schimke X-linked intellectual disability syndrome|childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness|progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness|choreoathetosis with intellectual disability, X-linked|Schimke X-linked mental retardation syndrome|choreoathetosis with mental retardation X- linked Orphanet:85285|UMLS:C1839320|GARD:0009288|OMIM:312840|MESH:C536630|SCTID:719010001|ICD10:Q87.8 owl:Class MONDO:0001853 biolink:NamedThing contact blepharoconjunctivitis tmpaxzxjjyw_mondo_relaxed.owl ICD9:372.22|DOID:13999|SCTID:10813004|UMLS:C0155150|ICD10:H10.53 owl:Class MONDO:0006704 biolink:NamedThing CNS demyelinating autoimmune disease Conditions characterized by loss or dysfunction of myelin (see myelin sheath) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or oligodendroglia associated autoantigens. tmpaxzxjjyw_mondo_relaxed.owl MESH:D020278|EFO:1000870 owl:Class MONDO:0008248 biolink:NamedThing pigmented purpuric eruption tmpaxzxjjyw_mondo_relaxed.owl Schamberg disease|pigmented purpuric eruption|Schamberg purpura|familial pigmented purpuric eruption|pigmented purpura|pigmented purpuric dermatosis|progressive pigmented purpura GARD:0007609|OMIM:172900|UMLS:C0406515|SCTID:20343006|MESH:C537186 owl:Class MONDO:0044322 biolink:NamedThing intellectual developmental disorder with neuropsychiatric features Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by {2:Srour et al., 2017}). tmpaxzxjjyw_mondo_relaxed.owl IDDNPF|intellectual developmental disorder with neuropsychiatric features OMIM:617532|UMLS:C4479636 owl:Class MONDO:0018009 biolink:NamedThing non-hypoproteinemic hypertrophic gastropathy Non-hypoproteinemic hypertrophic gastropathy is a rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema. tmpaxzxjjyw_mondo_relaxed.owl hypertrophic gastropathy without hypoproteinemia Orphanet:329883|ICD10:K29.6 owl:Class MONDO:0015403 biolink:NamedThing non-involuting congenital hemangioma Non-involuting congenital hemangioma (NICH) is a rare type of infantile hemangioma, which is a tumor that forms from the abnormal growth of blood vessels in the skin. NICH looks like an oval,purplish mark or bump that can occur on any part of the body. NICH is present from birth (congenital) and increases in size as the child grows. Unlike other hemangiomas, NICH do not disappear spontaneously (involute). tmpaxzxjjyw_mondo_relaxed.owl noninvoluting congenital hemangioma|NICH Orphanet:141179|GARD:0010890|UMLS:C1275417|SCTID:703295003|ICD10:D18.0 https://rarediseases.info.nih.gov/diseases/10890/non-involuting-congenital-hemangioma owl:Class MONDO:0019584 biolink:NamedThing localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms is a form of atypical lichen myxedematosus, characterized by the appearance of several 2-4 mm erythematous waxy papules confined to a few sites that may be associated with either an immunoglobulin A (IgA) nephropathy in patients with acral persistent papular mucinosis; discrete papular lichen myxedematosus; a scleromyxedema-like involvement, with dysphagia, hoarseness, pulmonary involvement, and carpal tunnel syndrome; myositis without skin sclerosis; or paraproteinemia. tmpaxzxjjyw_mondo_relaxed.owl ICD10:L98.5|Orphanet:90399 owl:Class MONDO:0019522 biolink:NamedThing recessive dystrophic epidermolysis bullosa-generalized other Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities. tmpaxzxjjyw_mondo_relaxed.owl RDEB, generalized intermediate|RDEB generalisata mitis|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|RDEB-O|RDEB, non-Hallopeau-Siemens type|recessive dystrophic epidermolysis bullosa, generalized intermediate|recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type|RDEB-generalized other|autosomal recessive dystrophic epidermolysis bullosa, generalized other|generalized mitis RDEB ICD10:Q81.2|GARD:0012794|Orphanet:89842|UMLS:CN206337 https://rarediseases.info.nih.gov/diseases/12794/recessive-dystrophic-epidermolysis-bullosa-generalized-other owl:Class MONDO:0007961 biolink:NamedThing megalencephaly, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl megalencephaly, autosomal dominant Orphanet:2477|OMIM:155350|UMLS:C3805727 owl:Class CHEBI:78840 biolink:NamedThing olefinic compound Any organic molecular entity that contains at least one C=C bond. tmpaxzxjjyw_mondo_relaxed.owl olefinic compounds owl:Class HP:0012369 biolink:NamedThing Abnormality of malar bones An abnormality of the malar surface of the zygomatic bone and including the frontal process of maxilla. tmpaxzxjjyw_mondo_relaxed.owl Malar anomaly|Deformity of the malar bones|Anomaly of the malar bones|Malformation of the malar bones UMLS:C4022926 The malar bones are a confluence of the convex prominence of the zygomatic bone known as the malar surface, along with the malar process (most medial and superior part) of the maxilla. It forms the medial border of the inferior bony orbit, and is contiguous with the lateral boundary of the nasal bridge. peter 2013-10-13T02:37:51Z human_phenotype owl:Class MONDO:0700087 biolink:NamedThing Usher syndrome type 1B Usher syndrome in which the cause of the disease is a mutation in the MYO7A gene tmpaxzxjjyw_mondo_relaxed.owl MESH:C536485|OMIM:276900 owl:Class GO:0002538 biolink:NamedThing arachidonic acid metabolite production involved in inflammatory response The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels. tmpaxzxjjyw_mondo_relaxed.owl production of arachidonic acid metabolites involved in inflammatory response|arachidonic acid metabolite production involved in acute inflammatory response|production of arachidonic acid metabolites involved in acute inflammatory response owl:Class MONDO:0021023 biolink:NamedThing complete androgen insensitivity syndrome Complete androgen insensitivity syndrome (CAIS) is a form of androgen insensitivity syndrome (AIS), a disorder of sex development (DSD), characterized by the presence of female external genitalia in a 46,XY individual with normal testis development but undescended testes and unresponsiveness to age-appropriate levels of androgens. tmpaxzxjjyw_mondo_relaxed.owl complete androgen resistance syndrome|androgen insensitivity syndrome, complete|CAIS UMLS:CN207337|OMIM:300068|ICD10:E34.51|GARD:0010597|SCTID:368851000119102|Orphanet:99429|NCIT:C120191|ICD10:E34.5|OMIM:300274 https://rarediseases.info.nih.gov/diseases/10597/complete-androgen-insensitivity-syndrome owl:Class MONDO:0008984 biolink:NamedThing ciliary discoordination due to random ciliary orientation tmpaxzxjjyw_mondo_relaxed.owl ciliary discoordination, due to random ciliary orientation|Rutland ciliary disorientation syndrome|ciliary discoordination due to random ciliary orientation MESH:C562757|OMIM:215518|SCTID:233667003|GARD:0001360|UMLS:C0340038|ICD9:759.89 https://rarediseases.info.nih.gov/diseases/1360/ciliary-discoordination-due-to-random-ciliary-orientation owl:Class MONDO:0011651 biolink:NamedThing intellectual disability, short stature, facial anomalies, and joint dislocations tmpaxzxjjyw_mondo_relaxed.owl mental retardation, short stature, facial anomalies, and JOINT dislocations|intellectual disability, short stature, facial anomalies, and JOINT dislocations OMIM:606220|UMLS:C1853507|MESH:C565248 owl:Class MONDO:0020800 biolink:NamedThing demyelinating disease of central nervous system Any condition in which there is degeneration of the myelin sheath that covers the nerves of the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl demyelinating disorders of the central nervous system|Demyelinating Disease of Central Nervous System|demyelinating disorder of central nervous system|Demyelinating CNS disease|demyelinating disease of central nervous system|Demyelinating disorders of the central nervous system|Demyelinating disease of central nervous system|demyelinating disease central nervous system (cns)|Demyelinating Disorder of Central Nervous System|demyelinating cns disease|Demyelinating disease central nervous system (CNS) UMLS:C0011302|ICD9:341.8|GARD:0012052|NCIT:C34526|ICD9:341.9|SCTID:6118003 Editor note: see: https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/44 owl:Class MONDO:0015097 biolink:NamedThing aortic valve dysplasia tmpaxzxjjyw_mondo_relaxed.owl ICD9:746.89|SCTID:253604004|Orphanet:101043|ICD10:Q23.0 owl:Class MONDO:0054754 biolink:NamedThing encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 tmpaxzxjjyw_mondo_relaxed.owl Herpes simplex encephalitis, Susceptibility to, 6|IIAE8|encephalopathy, ACUTE, infection-induced (HERPES-specific), susceptibility to, 8 OMIM:617900|UMLS:CN865669 owl:Class MONDO:0044721 biolink:NamedThing severe combined immunodeficiency due to LAT deficiency tmpaxzxjjyw_mondo_relaxed.owl SCID due to LAT deficiency|immunodeficiency 52|IMD52 OMIM:617514|UMLS:C4479588|Orphanet:504523 owl:Class UBERON:0012425 biolink:NamedThing striated border microvillus layer tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0012423 biolink:NamedThing layer of microvilli tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009980 biolink:NamedThing retinal telangiectasia and hypogammaglobulinemia tmpaxzxjjyw_mondo_relaxed.owl retinal telangiectasia and hypogammaglobulinemia|retinal telangiectasia associated with hypogammaglobulinemia|Frenkel Russe syndrome MESH:C535638|OMIM:267900|UMLS:C2930961|GARD:0002383 owl:Class GO:0030901 biolink:NamedThing midbrain development The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles). tmpaxzxjjyw_mondo_relaxed.owl mesencephalon development owl:Class MONDO:0011333 biolink:NamedThing light fixation seizure syndrome tmpaxzxjjyw_mondo_relaxed.owl light fixation seizure syndrome|Lfss|M syndrome UMLS:C1863767|OMIM:603530|MESH:C566367 owl:Class MONDO:0017462 biolink:NamedThing congenital pseudoarthrosis of the tibia A condition characterized by non-union of the tibia, which is present at birth. It is usually associated with neurofibromatosis type 1. tmpaxzxjjyw_mondo_relaxed.owl congenital pseudarthrosis of the tibia|congenital pseudarthrosis of tibia SCTID:55379003|NCIT:C132080|UMLS:C0265661|ICD10:Q74.2|Orphanet:295018 owl:Class MONDO:0017517 biolink:NamedThing brachydactyly of toes, unilateral tmpaxzxjjyw_mondo_relaxed.owl short toes, unilateral Orphanet:295132|ICD10:Q72.8 owl:Class MONDO:0016171 biolink:NamedThing polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies tmpaxzxjjyw_mondo_relaxed.owl Orphanet:208981|ICD10:G61.8 owl:Class NCBITaxon:2732527 biolink:NamedThing Chitovirales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022715 biolink:NamedThing Chiari malformation type 3 tmpaxzxjjyw_mondo_relaxed.owl Arnold Chiari malformation type III|Chiari type III malformation|Chiari malformation type III GARD:0009233|SCTID:253186001|OMIM:118420 https://rarediseases.info.nih.gov/diseases/9233/chiari-malformation-type-3 owl:Class HGNC:20303 biolink:NamedThing SLC30A8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020647 biolink:NamedThing microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome tmpaxzxjjyw_mondo_relaxed.owl MFRG|microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome OMIM:618142 owl:Class MONDO:0008548 biolink:NamedThing theophylline Biotransformation tmpaxzxjjyw_mondo_relaxed.owl theophylline Biotransformation 2022-04-01 UMLS:C1861211|OMIM:187650 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0002268 biolink:NamedThing dyspepsia An uncomfortable, often painful feeling in the stomach, resulting from impaired digestion. Symptoms include burning stomach pain, bloating, heartburn, nausea, and vomiting. Causes include gastritis, gastric ulcer, gastroesophageal reflux disease, pancreatic disease, and gallbladder disease. tmpaxzxjjyw_mondo_relaxed.owl dyspepsia, indigestion|indigestion ICD10:K30|DOID:2321|ICD10:R10.13|MESH:D004415|NCIT:C26756|EFO:0008533 owl:Class MONDO:0011681 biolink:NamedThing episodic ataxia type 4 Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia. tmpaxzxjjyw_mondo_relaxed.owl ataxia, periodic vestibulocerebellar|episodic ataxia, type 4|PATX|periodic vestibulocerebellar ataxia|EA4 UMLS:C1847843|ICD10:G11.8|DOID:0050992|MESH:C564698|SCTID:718754008|Orphanet:79136|OMIM:606552 owl:Class MONDO:0001037 biolink:NamedThing ring corneal ulcer tmpaxzxjjyw_mondo_relaxed.owl ICD9:370.02|SCTID:111520007|UMLS:C0155068|ICD10:H16.02|DOID:10444 owl:Class MONDO:0013132 biolink:NamedThing hereditary spastic paraplegia 36 Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant spastic paraplegia 36|SPG36|autosomal dominant spastic paraplegia type 36|spastic paraplegia 36, autosomal dominant|hereditary spastic paraplegia type 36 SCTID:723819007|MESH:C567930|OMIM:613096|Orphanet:320365|UMLS:C4510078|UMLS:C2936879|DOID:0110787|ICD10:G11.4 owl:Class MONDO:0100468 biolink:NamedThing Batten-Turner congenital myopathy A congenital myopathy described by Batten (1910) and later Turner (1949) and Turner and Lees (1962) in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy. tmpaxzxjjyw_mondo_relaxed.owl OMIM:255300 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0043294 biolink:NamedThing linear scleroderma A type of localized scleroderma characterized by a long strip of indurated skin, which is typically found unilaterally on an arm or leg, and sometimes on the forehead or trunk. This disorder often affects the tissues beneath the skin, causing damage to bones, muscle or other organs. It can limit movement, alter growth, and disfigure the affected area. tmpaxzxjjyw_mondo_relaxed.owl linear morphea|Scleroderma, linear|linear Scleroderma|en coup de sabre|linear scleroderma SCTID:22784002|NCIT:C116780|GARD:0009513 owl:Class HP:0006483 biolink:NamedThing Abnormal number of teeth The presence of an altered number of of teeth. tmpaxzxjjyw_mondo_relaxed.owl Abnormal number of teeth|Abnormal tooth count|Abnormal complement of teeth SNOMEDCT_US:335443002|UMLS:C1290508 Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth. peter 2008-03-28T05:44:00Z human_phenotype owl:Class MONDO:0022858 biolink:NamedThing continuous spike-wave during slow sleep syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001513 https://rarediseases.info.nih.gov/diseases/1513/continuous-spike-wave-during-slow-sleep-syndrome owl:Class HP:0001387 biolink:NamedThing Joint stiffness Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. tmpaxzxjjyw_mondo_relaxed.owl Stiff joints|Stiff joint|Joint stiffness SNOMEDCT_US:84445001|UMLS:C0162298 HP:0002775|HP:0003033 human_phenotype owl:Class MONDO:0020441 biolink:NamedThing right superior vena cava connecting to left-sided atrium Right superior vena cava connecting to the left-sided atrium is a rare, congenital vascular malformation of the major vessels characterized by the right SVC passing medially and dorsally to the aortic root and draining into the left atrium. Patients usually present a right-to-left systemic venous blood shunt which may manifest with arterial hypoxemia, cyanosis, exercise dyspnea, clubbing of the fingers, palpitations, murmurs and/or potentially fatal brain abscess. Association with other cardiac anomalies has been reported. tmpaxzxjjyw_mondo_relaxed.owl right superior caval vein connecting to left-sided atrium|right SVC connecting to left-sided atrium ICD10:Q26.8|Orphanet:99110 owl:Class CHEBI:50689 biolink:NamedThing reproductive control drug A substance used either in the prevention or facilitation of pregnancy. tmpaxzxjjyw_mondo_relaxed.owl reproductive control drugs|reproductive control agent owl:Class MONDO:0012235 biolink:NamedThing autosomal recessive spinocerebellar ataxia 7 Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia autosomal recessive 7|autosomal recessive spinocerebellar ataxia type 7|childhood onset autosomal recessive slowly progressive spinocerebellar ataxia|childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia|spinocerebellar ataxia, autosomal recessive 7|spinocerebellar ataxia, autosomal recessive type 7|SCAR7 UMLS:C1836474|Orphanet:284324|ICD10:G11.1|OMIM:609270|MESH:C563753|DOID:0080059|GARD:0012232 https://rarediseases.info.nih.gov/diseases/12232/spinocerebellar-ataxia-autosomal-recessive-7 owl:Class MONDO:0010904 biolink:NamedThing setting-Sun phenomenon, familial benign tmpaxzxjjyw_mondo_relaxed.owl setting-Sun phenomenon, familial benign UMLS:C1833577|MESH:C563470|OMIM:600598 owl:Class MONDO:0015040 biolink:NamedThing myelodysplastic syndrome with excess blasts-1 A myelodysplastic syndrome defined by 5-9% blasts in the bone marrow, and <5% blasts in the blood. Approximately 25% of cases progress to an acute leukemia. (WHO) tmpaxzxjjyw_mondo_relaxed.owl RAEB-I|myelodysplastic syndrome with Excess blasts-1|RAEB-1|MDS-EB-1|refractory anemia with excess blasts type 1 UMLS:C1318550|ICD10:D46.2|NCIT:C7167|Orphanet:100019 owl:Class HGNC:6502 biolink:NamedThing RPSA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007546 biolink:NamedThing myeloproliferative disorder, chronic, with eosinophilia tmpaxzxjjyw_mondo_relaxed.owl eosinophils, malignant proliferation of|MPE|myeloproliferative disorder, chronic, with eosinophilia UMLS:C1851585|DOID:0111344|Orphanet:86830|OMIM:131440|MESH:C565054 owl:Class MONDO:0017275 biolink:NamedThing spastic paraplegia-facial-cutaneous lesions syndrome Spastic paraplegia-facial-cutaneous lesions syndrome is a complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982. tmpaxzxjjyw_mondo_relaxed.owl spastic paraplegia facial cutaneous lesions|Bahemuka Brown syndrome|Bahemuka-Brown syndrome Orphanet:2819|UMLS:C2931617|MESH:C537797|GARD:0000806|SCTID:763403007 owl:Class MONDO:0011958 biolink:NamedThing bile and pancreatic ducts, complete absence of tmpaxzxjjyw_mondo_relaxed.owl bile and pancreatic ducts, complete absence of MESH:C564298|OMIM:608063 owl:Class MONDO:0033558 biolink:NamedThing autoinflammation, immune dysregulation, and eosinophilia tmpaxzxjjyw_mondo_relaxed.owl Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia|AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA|AIIDE OMIM:618999 owl:Class MONDO:0008167 biolink:NamedThing dermoid cyst of ovary A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral. tmpaxzxjjyw_mondo_relaxed.owl dermoid cyst, ovarian|dermoid cyst of ovary|ovary dermoid cyst|dermoid cyst (& [ovarian])|ovarian dermoid cyst|dermoid cyst of the ovary|teratoma, ovarian OMIM:166950|UMLS:C0237020|UMLS:C0280131|DOID:5117|MESH:C562731|NCIT:C3856 owl:Class GO:0030016 biolink:NamedThing myofibril The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010369 biolink:NamedThing nystagmus 5, congenital, X-linked tmpaxzxjjyw_mondo_relaxed.owl NYSTAGMUS 5, congenital, X-linked|NYS5 UMLS:C1845116|OMIM:300589 owl:Class MONDO:0001591 biolink:NamedThing senile entropion tmpaxzxjjyw_mondo_relaxed.owl involutional entropion DOID:12836|ICD9:374.01|UMLS:C0155188|SCTID:55408009 owl:Class MONDO:0016602 biolink:NamedThing citrin deficiency Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency). tmpaxzxjjyw_mondo_relaxed.owl citrin deficiency UMLS:C1997910|SCTID:429735007|Orphanet:247582|ICD10:E72.2 owl:Class MONDO:0023042 biolink:NamedThing ectodermal dysplasia margarita type tmpaxzxjjyw_mondo_relaxed.owl GARD:0002050 https://rarediseases.info.nih.gov/diseases/2050/ectodermal-dysplasia-margarita-type owl:Class HP:0000978 biolink:NamedThing Bruising susceptibility An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. tmpaxzxjjyw_mondo_relaxed.owl Easy bruising|Bruisability|Easy bruisability|Bruise easily|Bruising susceptibility UMLS:C0013491|MSH:D004438|SNOMEDCT_US:424131007|SNOMEDCT_US:77643000|SNOMEDCT_US:302227002|UMLS:C0423798|SNOMEDCT_US:425075004 An ecchymosis is defined as being larger than 1 cm in size. HP:0007472|HP:0000959|HP:0007433 human_phenotype owl:Class MONDO:0054781 biolink:NamedThing combined oxidative phosphorylation deficiency 36 tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency 36|COXPD36 DOID:0111482|OMIM:617950|UMLS:CN244569 owl:Class MONDO:0019576 biolink:NamedThing telangiectasia macularis eruptiva perstans tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q82.2|ICD9:448.9|MedDRA:10043192|Orphanet:90389|UMLS:C0263402|SCTID:8214000 owl:Class HGNC:3383 biolink:NamedThing STOM tmpaxzxjjyw_mondo_relaxed.owl owl:Class PATO:0001992 biolink:NamedThing cellularity An organismal quality inhering in a bearer by virtue of the bearer's consisting cells. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020858 biolink:NamedThing mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 tmpaxzxjjyw_mondo_relaxed.owl Mitochondrial Complex 5 (ATP Synthase) Deficiency, ATP5F1D Type|MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5|MC5DN5 OMIM:618120 owl:Class MONDO:0005690 biolink:NamedThing Caplan syndrome A combination of rheumatoid arthritis (RA) and pneumoconiosis that manifests as intrapulmonary nodules, which appear homogenous and well-defined on chest X-ray. tmpaxzxjjyw_mondo_relaxed.owl Caplan's syndrome|Caplan syndrome|Caplans syndrome|rheumatoid pneumoconiosis|Caplan's disease SCTID:398640008|MESH:D002205|EFO:0007192|DOID:10326|UMLS:C0006915 owl:Class MONDO:0003618 biolink:NamedThing pyosalpinx The presence of pus in the fallopian tube. It is usually caused by acute salpingitis. The fallopian tube is distended and filled with pus. Histologic examination reveals edema and acute and chronic inflammation. Symptoms include fever, vaginal discharge, and pelvic pain. tmpaxzxjjyw_mondo_relaxed.owl pyosalpingitis NCIT:C34968|DOID:5732|ICD10:N70|UMLS:C0034220|SCTID:397810006 owl:Class MONDO:0017086 biolink:NamedThing primary tethered cord syndrome Primary tethered cord syndrome is a genetic, non-syndromic congenital malformation of the neurenteric canal, spinal cord and column characterized by progressive neurologic deterioration (pain, sensorimotor deficits, abnormal gait, decreased tone or abnormal reflexes), musculoskeletal changes (foot deformities and asymmetry, muscle atrophy, limb weakness and numbness, gait disturbances, scoliosis) and/or genitourinary manifestations (bladder and bowel dysfunction). Midline cutaneous stigmata in the lumbosacral region, such as turfs of hair, skin appendages, dimples, subcutaneous lipomas, skin discoloration or hemangiomas, are frequently associated. tmpaxzxjjyw_mondo_relaxed.owl occult spinal dysraphism|occult spinal dysraphism sequence|tethered cord syndrome|segmental vertebral anomalies|primary tethered spinal cord syndrome UMLS:CN202446|SCTID:70534000|GARD:0004018|Orphanet:268861 owl:Class MONDO:0008619 biolink:NamedThing ulna metaphyseal dysplasia syndrome Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga. tmpaxzxjjyw_mondo_relaxed.owl metaphyseal chondrodysplasia, Rosenberg type|Rosenberg-Lohr syndrome|hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna|metaphyseal chondroplasia Rosenberg type|Rosenberg Lohr syndrome|ulna metaphyseal dysplasia syndrome ICD10:Q78.5|MESH:C536935|SCTID:715242008|Orphanet:1837|OMIM:191420|UMLS:C1860615|GARD:0004740 https://rarediseases.info.nih.gov/diseases/4740/ulna-metaphyseal-dysplasia-syndrome owl:Class MONDO:0018192 biolink:NamedThing paratesticular adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl adenocarcinoma of paratestis|adenocarcinoma of the paratestis ICD10:C63.7|ICD10:C63.2|ICD10:C63.1|Orphanet:363478|ICD10:C63.0|ICD10:C63.8 owl:Class MONDO:0007630 biolink:NamedThing North Carolina macular dystrophy North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination. tmpaxzxjjyw_mondo_relaxed.owl foveal dystrophy, progressive|NCMD|retinal pigment epithelial dystrophy, central|macular dystrophy retinal 1 North Carolina type|foveal dystrophy, progressive, formerly|central areolar pigment epithelial dystrophy|central retinal pigment epithelial dystrophy|CAPE dystrophy|North Carolina macular dystrophy|MCDR1|macular dystrophy, retinal, 1, NORTH Carolina type|North Carolina macular dystrophy, retinal 1|foveal dystrophy progressive|progressive foveal dystrophy|retinal pigment epithelial dystrophy central|caped ICD10:H35.5|Orphanet:75327|MESH:C537835|SCTID:312925009|GARD:0009179|OMIM:136550|UMLS:C0730294 OMIM has the gene DHS6S1 associated with this disease, but this gene does not exist in HGNC. In NCBI gene, it says this DHS6S1 was replaced by LOC111365204 (NCBIgene:111365204), but this gene also does not exist in HGNC. https://rarediseases.info.nih.gov/diseases/9179/north-carolina-macular-dystrophy owl:Class CL:0002352 biolink:NamedThing gestational hematopoietic stem cell A hematopoietic stem cell that exists during embryogenesis. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2010-09-22T09:05:13Z cell owl:Class MONDO:0007090 biolink:NamedThing amastia, bilateral, with ureteral triplication and dysmorphism tmpaxzxjjyw_mondo_relaxed.owl amastia, bilateral, with ureteral triplication and dysmorphism MESH:C566295|UMLS:C1863015|OMIM:104350 owl:Class MONDO:0016621 biolink:NamedThing juvenile Huntington disease Juvenile Huntington disease (JHD) is a form of Huntington disease (HD), characterized by onset of signs and symptoms before 20 years of age. tmpaxzxjjyw_mondo_relaxed.owl juvenile onset HD|juvenile Huntington chorea|Huntington disease, juvenile onset|JHD NCIT:C147072|UMLS:C0751208|Orphanet:248111|OMIM:143100|ICD10:G10|SCTID:230299004|GARD:0010510 https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease owl:Class MONDO:0019848 biolink:NamedThing posterior hypospadias Posterior hypospadias is a rare, non-syndromic, urogenital tract malformation characterized by an ectopic urethral meatus opening located in the posterior penis, the penoscrotal junction, the scrotum or the perineum, which often appears stenotic. The scrotum might appear bifid in severe cases and micropenis is not commonly associated. Urinary tract malformations, such as ureteropelvic junction obstruction, vesicoureteric reflux, pelvic or horseshoe kidney, crossed renal ectopia, renal agenesis, may be observed. tmpaxzxjjyw_mondo_relaxed.owl perineal, scrotal or penoscrotal hypospadias Orphanet:95706|ICD10:Q54.3|ICD10:Q54.2 owl:Class PATO:0000588 biolink:NamedThing vestigial A quality inhering in a bearer by virtue of the bearer's being a remnant structure from earlier development or evolution. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012857 biolink:NamedThing porokeratosis 5, disseminated superficial actinic type tmpaxzxjjyw_mondo_relaxed.owl porokeratosis, disseminated superficial actinic, 3|POROK5|porokeratosis 5, disseminated superficial actinic type Orphanet:79152|UMLS:C2676769|OMIM:612293|MESH:C567356 owl:Class MONDO:0011601 biolink:NamedThing neonatal intrahepatic cholestasis due to citrin deficiency Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia. tmpaxzxjjyw_mondo_relaxed.owl citrullinemia, type II, neonatal-onset|neonatal intrahepatic cholestasis due to citrin deficiency|neonatal-onset citrullinemia type II|neonatal-onset citrullinemia type 2|citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia|neonatal intrahepatic cholestasis caused by citrin deficiency|NICCD|cholestasis, neonatal intrahepatic, caused by citrin deficiency SCTID:717155003|MESH:C536398|UMLS:C4274030|ICD10:E72.2|UMLS:C1853942|Orphanet:247598|OMIM:605814|GARD:0010214 owl:Class MONDO:0016137 biolink:NamedThing acute and subacute inflammatory demyelinating polyneuropathy tmpaxzxjjyw_mondo_relaxed.owl acute and subacute inflammatory demyelinating polyradiculoneuropathy 2022-03-01 Orphanet:207038 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: acquired peripheral neuropathy' MONDO_0015923 owl:Class MONDO:0011971 biolink:NamedThing hyper-IgM syndrome type 5 Any hyper-IgM syndrome in which the cause of the disease is a mutation in the UNG gene. tmpaxzxjjyw_mondo_relaxed.owl HIGM5|UNG hyper-IgM syndrome|hyper-IgM syndrome 5|hyper IgM syndrome 5|hyper-IgM syndrome due to UNG deficiency|hyper-IgM syndrome due to uracil N-glycosylase|hyper-IgM syndrome type 5|immunodeficiency with hyper-IgM, type 5|immunodeficiency with hyper IgM type 5|hyper-IgM syndrome caused by mutation in UNG GARD:0010581|Orphanet:183666|Orphanet:101092|OMIM:608106|DOID:0060759|ICD10:D80.5 https://rarediseases.info.nih.gov/diseases/10581/immunodeficiency-with-hyper-igm-type-5 owl:Class MONDO:0009363 biolink:NamedThing hydrocephaly-tall stature-joint laxity syndrome Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. tmpaxzxjjyw_mondo_relaxed.owl Daish Hardman Lamont syndrome|hydrocephalus, tall stature, joint laxity and kyphoscoliosis|hydrocephalus, tall stature, JOINT laxity, and kyphoscoliosis|hydrocephaly - tall stature - joint laxity|Daish-Hardman-Lamont syndrome MESH:C535770|Orphanet:2181|ICD10:Q87.8|GARD:0001666|OMIM:236660|UMLS:C1856051|SCTID:732926009 owl:Class MONDO:0001492 biolink:NamedThing kyphoscoliotic heart disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152102|ICD10:I27.1|ICD9:416.1|DOID:12325|SCTID:45650007 owl:Class MONDO:0012749 biolink:NamedThing mesomelic dysplasia, camera type tmpaxzxjjyw_mondo_relaxed.owl mesomelic dysplasia, camera type MESH:C567503|UMLS:C2678472|OMIM:611886 owl:Class MONDO:0008507 biolink:NamedThing surface polypeptides, anonymous tmpaxzxjjyw_mondo_relaxed.owl Spa5|surface polypeptides, anonymous|Spa2 OMIM:185610 owl:Class MONDO:0049221 biolink:NamedThing myopia 26, X-linked, female-limited tmpaxzxjjyw_mondo_relaxed.owl myopia 26, X-linked, female-limited|MYP26 UMLS:C4538795|OMIM:301010 owl:Class CHEBI:131927 biolink:NamedThing dicarboxylic acids and O-substituted derivatives A class of carbonyl compound encompassing dicarboxylic acids and any derivatives obtained by substitution of either one or both of the carboxy hydrogens. tmpaxzxjjyw_mondo_relaxed.owl dicarboxylic acids and derivatives owl:Class MONDO:0010932 biolink:NamedThing progressive bifocal chorioretinal atrophy Progressive bifocal chorioretinal atrophy (PBCRA) is an early-onset chorioretinal dystrophy characterized by large atrophic macular and nasal retinal lesions, nystagmus, myopia, poor vision, and slow disease progression. tmpaxzxjjyw_mondo_relaxed.owl CRAPB|Crapb|progressive bifocal chorioretinal atrophy|PBCRA|chorioretinal atrophy, progressive bifocal SCTID:719266007|OMIM:600790|Orphanet:75373|UMLS:C1833321|MESH:C535356|GARD:0010123 https://rarediseases.info.nih.gov/diseases/10123/progressive-bifocal-chorioretinal-atrophy owl:Class MONDO:0014133 biolink:NamedThing developmental and epileptic encephalopathy, 16 tmpaxzxjjyw_mondo_relaxed.owl epileptic encephalopathy, early infantile, 16|DEE16|EIEE16|epileptic encephalopathy, early infantile, type 16 DOID:0080449|Orphanet:352596|Orphanet:293181|OMIM:615338|UMLS:C3809173 owl:Class MONDO:0001636 biolink:NamedThing mechanical entropion tmpaxzxjjyw_mondo_relaxed.owl SCTID:38683003|UMLS:C0155189|ICD9:374.02|DOID:13112 owl:Class MONDO:0008100 biolink:NamedThing nipples inverted tmpaxzxjjyw_mondo_relaxed.owl Mammillae Invertitae|nipples inverted OMIM:163600 owl:Class MONDO:0013535 biolink:NamedThing hydroxyacyl glutathione hydrolase deficiency tmpaxzxjjyw_mondo_relaxed.owl glyoxalase 2 deficiency|hydroxyacyl glutathione hydrolase deficiency MESH:C564215|OMIM:614033|UMLS:C3279657 owl:Class MONDO:0017677 biolink:NamedThing focal acral hyperkeratosis tmpaxzxjjyw_mondo_relaxed.owl PPKP3 without elastoidosis|punctate palmoplantar hyperkeratosis type 3 without elastoidosis|PPPK3 without elastoidosis|punctate palmoplantar keratoderma type 3 without elastoidosis SCTID:400115004|ICD10:Q82.8|Orphanet:308013|UMLS:C1302839 owl:Class MONDO:0007735 biolink:NamedThing congenital Horner syndrome Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported. tmpaxzxjjyw_mondo_relaxed.owl congenital Claude-Bernard-Horner syndrome|HORNER syndrome, congenital|congenital Horner syndrome|congenital Horner syndrome (disease) congenital Horner syndrome (disease) HP:0006837|ICD10:G90.2|MESH:C564178|UMLS:C1840475|Orphanet:91413|OMIM:143000 owl:Class MONDO:0015092 biolink:NamedThing cleft hard palate tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q35.1|SCTID:448915004|Orphanet:101023 owl:Class MONDO:0030883 biolink:NamedThing carpal tunnel syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl carpal tunnel syndrome 2|CTS2 OMIM:619161 owl:Class MONDO:0000840 biolink:NamedThing dysbaric osteonecrosis A form of avascular necrosis where there is death of a portion of the bone that is thought to be caused by nitrogen embolism. tmpaxzxjjyw_mondo_relaxed.owl DON|caisson disease of bone SCTID:431591000124102|DOID:0080018 owl:Class ECTO:4000035 biolink:NamedThing exposure to increased water pressure A exposure event involving the interaction of an exposure receptor to increased amount of pressure of water. tmpaxzxjjyw_mondo_relaxed.owl exposure to increased amount in pressure of water owl:Class MONDO:0018004 biolink:NamedThing acute megakaryoblastic leukemia without down syndrome tmpaxzxjjyw_mondo_relaxed.owl non-DS-AMKL UMLS:CN204216|ICD10:C94.2|Orphanet:329469 owl:Class MONDO:0008312 biolink:NamedThing autosomal dominant prognathism Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion). tmpaxzxjjyw_mondo_relaxed.owl 'Habsburg jaw'|'Hapsburg jaw'|Habsburg jaw|Hapsburg jaw|prognathism mandibular|prognathism, mandibular ICD10:K07.1|MESH:D008313|GARD:0010319|OMIM:176700|UMLS:CN203311|Orphanet:2964 owl:Class CHEBI:30436 biolink:NamedThing tetrahydropterin tmpaxzxjjyw_mondo_relaxed.owl tetrahydropterins|tetrahydropteridines owl:Class MONDO:0011860 biolink:NamedThing leprosy, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl LPRS2|leprosy, susceptibility to, 2 Orphanet:548|OMIM:607572|UMLS:C1843632 https://github.com/monarch-initiative/mondo/issues/2760 owl:Class MONDO:0023221 biolink:NamedThing Gaucher ichthyosis restrictive dermopathy tmpaxzxjjyw_mondo_relaxed.owl GARD:0002444 https://rarediseases.info.nih.gov/diseases/2444/gaucher-ichthyosis-restrictive-dermopathy owl:Class MONDO:0026404 biolink:NamedThing X inactivation, familial skewed, 1 tmpaxzxjjyw_mondo_relaxed.owl SXI1|X INACTIVATION, FAMILIAL SKEWED, 1|X inactivation, familial skewed, 1|X-inactivation, familial skewed, 1 OMIM:300087 owl:Class MONDO:0004340 biolink:NamedThing mixed ductal-endocrine carcinoma of pancreas A carcinoma that arises from the pancreas showing a mixture of ductal and neuroendocrine malignant cells in both the primary tumor and in the metastatic sites. tmpaxzxjjyw_mondo_relaxed.owl mixed ductal-neuroendocrine carcinoma of the pancreas|mixed ductal-endocrine carcinoma|mixed ductal-endocrine carcinoma of the pancreas NCIT:C6879|UMLS:C1301048|DOID:7716 owl:Class MONDO:0015404 biolink:NamedThing rapidly involuting congenital hemangioma Rapidly involuting congenital hemangiomas (RICH) are a distinctive type of congenital hemangioma that are fully formed in utero and differ from non-involuting congenital haemangiomas (NICH) mainly because they undergo rapid postnatal involution. tmpaxzxjjyw_mondo_relaxed.owl rich ICD10:D18.0|SCTID:703294004|UMLS:C1275421|Orphanet:141184 owl:Class MONDO:0009713 biolink:NamedThing myopia 18, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl myopia 18, autosomal recessive|MYP18 UMLS:C2749509|OMIM:255500|MESH:C567606 owl:Class MONDO:0021907 biolink:NamedThing aplasia cutis autosomal recessive Aplasia cutis with autosomal recessive inheritance. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000749 https://rarediseases.info.nih.gov/diseases/749/aplasia-cutis-autosomal-recessive owl:Class MONDO:0008683 biolink:NamedThing Wilms tumor 3 tmpaxzxjjyw_mondo_relaxed.owl Wilms tumor 3|WT3 Orphanet:654|OMIM:194090|UMLS:C1860265|MESH:C565991 owl:Class HGNC:17042 biolink:NamedThing PUF60 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0025453 biolink:NamedThing pneumonia, progressive interstitial, of sheep Chronic respiratory disease caused by the visna-maedi virus. It was formerly believed to be identical with jaagsiekte (pulmonary adenomatosis, ovine) but is now recognized as a separate entity. tmpaxzxjjyw_mondo_relaxed.owl progressive interstitial pneumonia of sheep|Maedi MESH:D011021|UMLS:C0032306 owl:Class HP:0031064 biolink:NamedThing Impaired continence Partial or total incontinence of bowel or bladder. tmpaxzxjjyw_mondo_relaxed.owl 2017-05-28 22:29:13+00:00 peter human_phenotype owl:Class MONDO:0029142 biolink:NamedThing hearing loss, autosomal recessive 111 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 111|DFNB111 DOID:0111640|OMIM:618145 owl:Class GO:0008144 biolink:NamedThing drug binding Binding to a drug, a naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism;typically used in the diagnosis, prevention, or treatment of disease. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007869 biolink:NamedThing Kyrle disease Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus, kidney disease, liver abnormalities, and congestive heart failure. In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop. tmpaxzxjjyw_mondo_relaxed.owl Kyrle's disease|hyperkeratosis follicularis et parafollicularis in cutem penetrans|Kyrle disease MESH:C538130|SCTID:34042008|GARD:0009738|UMLS:C0263382|OMIM:149500 https://rarediseases.info.nih.gov/diseases/9738/kyrle-disease owl:Class MONDO:0003652 biolink:NamedThing acute urate nephropathy Urolithiasis in which the composition of the stones is predominantly urate. tmpaxzxjjyw_mondo_relaxed.owl uric acid urolithiasis|uric acid nephrolithiasis UMLS:C0403719|ICD9:274.11|SCTID:236496000|ICD9:583.9|NCIT:C123037|DOID:580|UMLS:C0341712 owl:Class MONDO:0015535 biolink:NamedThing xanthoma disseminatum tmpaxzxjjyw_mondo_relaxed.owl Montgomery syndrome SCTID:399970005|UMLS:C0043322|MedDRA:10052575|ICD10:D76.3|Orphanet:158003|GARD:0013186 https://rarediseases.info.nih.gov/diseases/13186/xanthoma-disseminatum owl:Class HP:0041051 biolink:NamedThing Ageusia A rare condition that is characterized by a complete loss of taste function of the tongue. tmpaxzxjjyw_mondo_relaxed.owl Lost taste|Absent sense of taste|Impaired taste sensation http://orcid.org/0000-0001-5208-3432 human_phenotype owl:Class MONDO:0017067 biolink:NamedThing cervicothoracic spina bifida aperta tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268397|UMLS:CN202426 owl:Class MONDO:0012069 biolink:NamedThing keratoconus 3 tmpaxzxjjyw_mondo_relaxed.owl KTCN3|keratoconus 3 OMIM:608586|UMLS:C1837809|MESH:C563900 owl:Class MONDO:0022094 biolink:NamedThing Cartwright Nelson Fryns syndrome tmpaxzxjjyw_mondo_relaxed.owl Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails|Growth retardation, severe intellectual disability, acral limb deficiencies with poorly keratinized nails GARD:0001132|UMLS:C2931062|MESH:C535917 https://rarediseases.info.nih.gov/diseases/1132/cartwright-nelson-fryns-syndrome owl:Class MONDO:0012035 biolink:NamedThing craniosynostosis-intracranial calcifications syndrome Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis, characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. tmpaxzxjjyw_mondo_relaxed.owl Longman-Tolmie syndrome|craniosynostosis, calcification of basal ganglia, and facial dysmorphism OMIM:608432|Orphanet:52054|SCTID:720816004|MESH:C564241|UMLS:C1842058|ICD10:Q87.0 owl:Class MONDO:0012086 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 31 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 6p21.3. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 31|deafness, autosomal dominant 31|autosomal dominant deafness 31|autosomal dominant nonsyndromic deafness 31|DFNA31 ICD10:H90.3|MESH:C563888|DOID:0110561|OMIM:608645|UMLS:C1837617 owl:Class MONDO:0012968 biolink:NamedThing Usher syndrome type 1H An Usher syndrome type 1 that has material basis in variation in the chromosome region 15q22-q23. tmpaxzxjjyw_mondo_relaxed.owl USH1H|Usher syndrome type IH|USHER syndrome, type IH DOID:0110835|UMLS:C2675458|OMIM:612632|ICD10:H35.5|MESH:C567227|Orphanet:231169|Orphanet:886 owl:Class MONDO:0011368 biolink:NamedThing papillary thyroid Microcarcinoma A papillary carcinoma of the thyroid gland measuring 10mm or less in diameter. The survival rates of patients with this type of carcinoma are the same with those of the normal population. tmpaxzxjjyw_mondo_relaxed.owl papillary thyroid gland Microcarcinoma|papillary Microcarcinoma of the thyroid|papillary thyroid Microcarcinoma|thyroid gland papillary Microcarcinoma|papillary Microcarcinoma of the thyroid gland UMLS:C1709457|Orphanet:319487|NCIT:C46004|MESH:C563277|ICDO:8341/3|OMIM:603744 owl:Class MONDO:0009881 biolink:NamedThing pituitary dwarfism with large sella turcica tmpaxzxjjyw_mondo_relaxed.owl pituitary dwarfism with large sella turcica SCTID:27270004|OMIM:262710|ICD9:253.8|MESH:C562705|UMLS:C0271575|GARD:0010607 https://rarediseases.info.nih.gov/diseases/10607/pituitary-dwarfism-with-large-sella-turcica owl:Class MONDO:0011723 biolink:NamedThing hemifacial myohyperplasia Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape. Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side. Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes. The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities. tmpaxzxjjyw_mondo_relaxed.owl hemifacial myohyperplasia|HMH|hypertrophy and asymmetry of the facial muscles MESH:C535862|SCTID:699420006|ICD9:744.89|GARD:0010084|ICD10:Q67.4|Orphanet:141148|OMIM:606773 https://rarediseases.info.nih.gov/diseases/10084/hemifacial-myohyperplasia owl:Class MONDO:0004946 biolink:NamedThing hypoglycemia Abnormally low level of glucose in the blood. tmpaxzxjjyw_mondo_relaxed.owl hypoglycaemia|low blood glucose|blood glucose, Low|glucose, Low blood MESH:D007003|NCIT:C3126|SCTID:302866003|ICD10:E16.2|ICD9:251.2|ICD9:251.1|UMLS:C0020615|DOID:9993 owl:Class CL:0002673 biolink:NamedThing tongue muscle cell A skeletal muscle cell that is part of the tongue. tmpaxzxjjyw_mondo_relaxed.owl tmeehan 2011-08-16T03:10:02Z cell owl:Class MONDO:0000400 biolink:NamedThing mixed cerebral palsy A subtype of cerebral palsy characterized by both the tight muscle tone of spastic cerebral palsy and the writhing, involuntary muscle movements of athetoid cerebral palsy. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97177|UMLS:C0751024|SCTID:702318008|DOID:0050673|ICD9:343.8 owl:Class CL:0000488 biolink:NamedThing visible light photoreceptor cell A photoreceptor cell that detects visible light. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class MONDO:0023154 biolink:NamedThing fibromatosis multiple non ossifying tmpaxzxjjyw_mondo_relaxed.owl disseminated nonossifying fibromas in association with cafe-au-lait spots|Jaffe Campanacci syndrome UMLS:C0796000|GARD:0000309|SCTID:715432009 https://rarediseases.info.nih.gov/diseases/309/fibromatosis-multiple-non-ossifying owl:Class SO:0001637 biolink:NamedThing rRNA_gene A gene that encodes for ribosomal RNA. tmpaxzxjjyw_mondo_relaxed.owl rRNA gene|rDNA owl:Class MONDO:0011572 biolink:NamedThing type 1 diabetes mellitus 18 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 5q31.1-q33.1. tmpaxzxjjyw_mondo_relaxed.owl insulin-dependent diabetes mellitus 18|IDDM18|diabetes mellitus, insulin-dependent, 18 UMLS:C1854125|OMIM:605598|ICD10:E10|MESH:C565315|DOID:0110755 owl:Class MONDO:0015166 biolink:NamedThing acute myeloid leukemia with t(8;21)(q22;q22) translocation tmpaxzxjjyw_mondo_relaxed.owl AML with t(8;21)(q22;q22) translocation ICD10:C92.0|Orphanet:102724 owl:Class MONDO:0025419 biolink:NamedThing furunculosis A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of staphylococcus. In salmonid fish (salmonids), the pathogen is aeromonas salmonicida. tmpaxzxjjyw_mondo_relaxed.owl Furunculoses|boils|Furuncles|furuncle NCIT:C34629|MESH:D005667 owl:Class MONDO:0033638 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 8 tmpaxzxjjyw_mondo_relaxed.owl MC4DN8 OMIM:619052 owl:Class MONDO:0008577 biolink:NamedThing toe, misshapen tmpaxzxjjyw_mondo_relaxed.owl toe, misshapen OMIM:189100 owl:Class MONDO:0017084 biolink:NamedThing leptomyelolipoma Leptomyelolipoma is a rare neural tube closure defect characterized by an abnormally low lying conus which is tethered by a lumbosacral lipomatous mass (containing fatty tissue, nerve fibers, meningeal strands and fibrous bands) which engulfs the filum terminale and varying numbers of dorsal and ventral nerve root components, typically producing sensory, motor, bowel and/or bladder dysfunction. Cutaneous stigmata, absent or reduced reflexes and foot defomities (e.g. talipes cavovalgus) are frequently present. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268838 owl:Class MONDO:8000015 biolink:NamedThing 46,XY sex reversal 11 Any 46,XY complete gonadal dysgenesis in which the cause of the disease is a mutation in the DHX37 gene. tmpaxzxjjyw_mondo_relaxed.owl SRXY11|XY gonadal agenesis syndrome|testicular regression syndrome|TRS|testicular regression, embryonic|anorchia, familial MESH:C537770|OMIM:273250 owl:Class MONDO:0012265 biolink:NamedThing preeclampsia/eclampsia 3 tmpaxzxjjyw_mondo_relaxed.owl PREECLAMPSIA/eclampsia 3|PEE3 OMIM:609403|UMLS:C1836256|Orphanet:275555 owl:Class NCBITaxon:31979 biolink:NamedThing Clostridiaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11 ncbi_taxonomy owl:Class MONDO:0006722 biolink:NamedThing dental fluorosis A condition that results from excessive fluoride ingestion during tooth development, resulting in tooth discoloration ranging from white streaks to brown stains and cracks or pits in the tooth enamel. tmpaxzxjjyw_mondo_relaxed.owl intrinsic enamel discolouration of fluorosis|mottled teeth|fluorosis|mottling of enamel UMLS:C0026618|SCTID:30265004|ICD9:520.3|EFO:1000892|MedDRA:10016819|ICD10:K00.3|MESH:D009050|DOID:13711|NCIT:C85059 owl:Class MONDO:0019123 biolink:NamedThing continuous spikes and waves during sleep Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development. tmpaxzxjjyw_mondo_relaxed.owl CSWSS syndrome|CSWS|epileptic encephalopathy with continuous spike-and-wave during slow sleep|continuous spikes and waves during slow-wave sleep UMLS:CN205644|ICD10:F80.3|Orphanet:725|UMLS:CN181337|UMLS:C3806403|OMIM:245570 owl:Class MONDO:0008529 biolink:NamedThing T-cell Subgroups, non-HLA-linked tmpaxzxjjyw_mondo_relaxed.owl T-cell Subgroups, non-HLA-linked OMIM:186950 owl:Class HGNC:10603 biolink:NamedThing SCO1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032767 biolink:NamedThing paragangliomas 6 tmpaxzxjjyw_mondo_relaxed.owl PGL6|PARAGANGLIOMAS 6 OMIM:618464 owl:Class MONDO:0017929 biolink:NamedThing congenital achiasma Congenital achiasma is a rare, genetic, non-syndromic cranial nerve and nuclear aplasia malformation characterized by the congenital absence of the optic chiasm, resulting from the failure of the optic nerve fibers to cross over and decussate to the contralateral hemisphere, leading to decreased vision, strabismus and congenital nystagmus in infancy. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:324353|ICD10:H47.4|SCTID:734031008 owl:Class MONDO:0006480 biolink:NamedThing undifferentiated pleomorphic sarcoma, inflammatory variant An undifferentiated pleomorphic sarcoma characterized by the presence of numerous inflammatory cells. tmpaxzxjjyw_mondo_relaxed.owl undifferentiated pleomorphic sarcoma, inflammatory variant|Xanthosarcoma|malignant xanthogranuloma|inflammatory malignant fibrous histiocytoma|inflammatory MFH NCIT:C6497|DOID:6192|EFO:1000608|UMLS:C1334180 owl:Class HGNC:10968 biolink:NamedThing SLC22A4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7897 biolink:NamedThing NPC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005630 biolink:NamedThing fetal membrane tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019855 biolink:NamedThing athyreosis Athyreosis is a form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth. tmpaxzxjjyw_mondo_relaxed.owl OMIM:225250|Orphanet:95713|OMIM:218700|ICD10:E03.1 owl:Class MONDO:0043174 biolink:NamedThing Pfeiffer Tietze Welte syndrome tmpaxzxjjyw_mondo_relaxed.owl sagittal craniostenosis, bilateral coloboma of the iris, craniofacial dysmorphy, asymmetrical split hand malformation, bilateral syndactyly of 2nd-4th GARD:0004308|MESH:C537891|UMLS:C2931657 owl:Class UBERON:0012615 biolink:NamedThing umbilical smooth muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100387 biolink:NamedThing acute myeloid leukemia, Monosomy 7 Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 7. (A chromosomal abnormality consisting of the absence of one of the copies of chromosome 7 in somatic cells.) tmpaxzxjjyw_mondo_relaxed.owl AML, Monosomy 7 NCIT:C36411 term to be merged with: MONDO:0005223 'acute myeloid leukemia with minimal differentiation' https://github.com/monarch-initiative/mondo/issues/3583 owl:Class MONDO:0009085 biolink:NamedThing deafness-vitiligo-achalasia syndrome Deafness-vitiligo-achalasia syndrome is characterized by the association of deafness, short stature, vitiligo, muscle wasting, and achalasia. tmpaxzxjjyw_mondo_relaxed.owl congenital deafness with vitiligo and achalasia|deafness, congenital, with vitiligo and achalasia|deafness vitiligo achalasia GARD:0001705|UMLS:C1857339|OMIM:221350|Orphanet:3239|ICD10:Q87.8|MESH:C565642 https://rarediseases.info.nih.gov/diseases/1705/congenital-deafness-with-vitiligo-and-achalasia owl:Class MONDO:0019760 biolink:NamedThing terminal transverse defects of arm tmpaxzxjjyw_mondo_relaxed.owl congenital limb amputation UMLS:C1857578|OMIM:217100|ICD10:Q79.8|Orphanet:93937 owl:Class MONDO:0001440 biolink:NamedThing neurotrophic keratoconjunctivitis tmpaxzxjjyw_mondo_relaxed.owl DOID:12125|SCTID:77080005|ICD9:370.35|ICD10:H16.23|UMLS:C0155084 owl:Class MONDO:0025163 biolink:NamedThing white heifer disease A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of cattle, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile. tmpaxzxjjyw_mondo_relaxed.owl disease, White heifer SCTID:82642007|UMLS:C0043152|MESH:D050072 owl:Class MONDO:0016436 biolink:NamedThing acquired dermis elastic tissue disorder with increased elastic tissue tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:228224|UMLS:CN226929 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: acquired dermis elastic tissue disorder' MONDO_0016434 owl:Class MONDO:0054838 biolink:NamedThing cardiomyopathy, familial hypertrophic 27 tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy, FAMILIAL hypertrophic 27|CMH27 OMIM:618052|UMLS:CN252335 owl:Class MONDO:0014826 biolink:NamedThing nucleoside diphosphate-linked moiety X Motif 15 deficiency tmpaxzxjjyw_mondo_relaxed.owl Nudt15 deficiency|Thiopurines, poor metabolism Of, 2|nucleoside diphosphate-linked moiety X Motif 15 deficiency|nucleoside diphosphate-linked moiety X Motif 15 deficiency; NUDT15D|THIOPURINES, poor metabolism OF, 2|THPM2|NUDT15D 2022-04-01 OMIM:616903|UMLS:C4225160 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0017098 biolink:NamedThing isolated focal cortical dysplasia type Ic tmpaxzxjjyw_mondo_relaxed.owl FCD type Ic ICD10:Q04.8|Orphanet:268987|UMLS:CN202455 owl:Class MONDO:0012603 biolink:NamedThing episodic kinesigenic dyskinesia 2 A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has material basis in variation in the chromosome region 16q13-q22.1. tmpaxzxjjyw_mondo_relaxed.owl episodic kinesigenic dyskinesia type 2|dystonia 19|EKD2|episodic kinesigenic dyskinesia 2 UMLS:C1970238|OMIM:611031|DOID:0090054|MESH:C567026|Orphanet:98809|ICD10:G24.8 owl:Class MONDO:0031446 biolink:NamedThing hypercholanemia, familial 1 A very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. tmpaxzxjjyw_mondo_relaxed.owl FHCA1|hereditary hypercholanemia SCTID:723360007|MESH:C564336|Orphanet:238475|OMIM:607748|UMLS:C1843139 owl:Class MONDO:0016730 biolink:NamedThing gangliocytoma A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells. tmpaxzxjjyw_mondo_relaxed.owl GNC NCIT:C6934|GARD:0010638|MESH:D005729|SCTID:116371000119107|UMLS:CN201978|DOID:2426|ICD10:D36.1|Orphanet:251937|ONCOTREE:GNC|ICDO:9492/0|UMLS:C0017075 https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma owl:Class MONDO:0017817 biolink:NamedThing primary localized amyloidosis Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin. tmpaxzxjjyw_mondo_relaxed.owl localized AL amyloidosis Orphanet:314709|ICD10:E85.4 owl:Class MONDO:0002110 biolink:NamedThing adrenal rest tumor A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia. tmpaxzxjjyw_mondo_relaxed.owl adrenal rest tumor|adrenal rest neoplasm UMLS:C0001630|NCIT:C2860|DOID:1786|MESH:D000314|ICDO:8671/0|EFO:1000798 owl:Class MONDO:0022691 biolink:NamedThing cerebello-olivary atrophy tmpaxzxjjyw_mondo_relaxed.owl Cerebelloolivary atrophy GARD:0001198 https://rarediseases.info.nih.gov/diseases/1198/cerebello-olivary-atrophy owl:Class MONDO:0001368 biolink:NamedThing phthisical cornea tmpaxzxjjyw_mondo_relaxed.owl SCTID:28143002|UMLS:C0155102|DOID:11793|ICD9:371.05 owl:Class MONDO:0008934 biolink:NamedThing cerebellar ataxia-ectodermal dysplasia syndrome Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia - ectodermal dysplasia|cerebellar ataxia and ectodermal dysplasia|ectodermal dysplasia and cerebellar ataxia|cerebellar ataxia ectodermal dysplasia Orphanet:1174|ICD10:G11.1|OMIM:212835|SCTID:715371006|GARD:0001189|UMLS:C1859306|MESH:C535350 owl:Class MONDO:0014853 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 70 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness caused by mutation in MCM2|autosomal dominant nonsyndromic deafness type 70|deafness, autosomal dominant 70|DFNA70|deafness, autosomal dominant type 70|MCM2 autosomal dominant nonsyndromic deafness|autosomal dominant deafness 70|autosomal dominant nonsyndromic deafness 70 ICD10:H90.3|UMLS:C4310775|DOID:0110592|OMIM:616968 owl:Class MONDO:0007408 biolink:NamedThing cryptotia, familial tmpaxzxjjyw_mondo_relaxed.owl cryptotia, familial UMLS:C1852455|MESH:C565140|OMIM:123557 owl:Class MONDO:0015428 biolink:NamedThing choroidal atrophy-alopecia syndrome Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails. tmpaxzxjjyw_mondo_relaxed.owl Moloney syndrome|choroidal atrophy alopecia|fine hair, absent/decreased lashes, absent/decreased eyebrows, visual loss-mild/suspected, dysplastic/thick/grooved toenails and fingernails|regional choroidal atrophy and alopecia UMLS:C2931026|Orphanet:1433|GARD:0003704|SCTID:720850008|MESH:C535810 owl:Class MONDO:0016847 biolink:NamedThing trisomy 1q Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections. tmpaxzxjjyw_mondo_relaxed.owl trisomy type 1q|Duplication 1q ICD10:Q92.2|SCTID:768927001|Orphanet:261344 owl:Class MONDO:0015307 biolink:NamedThing Madras motor neuron disease Madras motor neuron disease (MMND) is characterized by weakness and atrophy of limbs, multiple lower cranial nerve palsies and sensorineural hearing loss. tmpaxzxjjyw_mondo_relaxed.owl MMND ICD10:G12.2|Orphanet:137867|GARD:0010742|UMLS:C0393551 owl:Class CHEBI:36388 biolink:NamedThing saturated organic heterocyclic parent tmpaxzxjjyw_mondo_relaxed.owl saturated organic heterocyclic parents|saturated heterocyclic parent hydride|saturated heterocyclic parent hydrides owl:Class MONDO:0060589 biolink:NamedThing facial palsy, congenital, with ptosis and velopharyngeal dysfunction tmpaxzxjjyw_mondo_relaxed.owl FPVEPD|facial palsy, congenital, with ptosis and velopharyngeal dysfunction UMLS:C4540277|OMIM:617732 owl:Class MONDO:0023018 biolink:NamedThing dupont sellier chochillon syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001983 https://rarediseases.info.nih.gov/diseases/1983/dupont-sellier-chochillon-syndrome owl:Class MONDO:0009592 biolink:NamedThing metaphyseal acroscyphodysplasia Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases. tmpaxzxjjyw_mondo_relaxed.owl Bellini syndrome|wedge-shaped epiphyses of the knees with intellectual disability and short stature|wedge-shaped epiphyses of knees|intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome|metaphyseal acroscyphodysplasia|wedge-Shaped epiphyses of knees|Bellini Chiumello Rimoldi syndrome|wedge-shaped epiphyses of the knees with mental retardation and short stature|cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly MESH:C537350|Orphanet:1240|OMIM:250215|UMLS:C1855243|ICD10:Q78.5|GARD:0003519 https://rarediseases.info.nih.gov/diseases/3519/metaphyseal-acroscyphodysplasia owl:Class MONDO:0013747 biolink:NamedThing atrioventricular septal defect 4 Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene. tmpaxzxjjyw_mondo_relaxed.owl atrioventricular septal defect type 4|GATA4 atrioventricular septal defect|atrioventricular septal defect 4|atrioventricular septal defect caused by mutation in GATA4|AVSD4 UMLS:C3280781|OMIM:614430|Orphanet:98722 owl:Class MONDO:0012188 biolink:NamedThing neuronal ceroid lipofuscinosis 9 Neuronal ceroid lipofuscinosis 9 (CLN9-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop in early childhood (average age 4 years) and may include loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (the loss of previously acquired skills). The underlying genetic cause of CLN9-NCLis unknown but it appears to be inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms. tmpaxzxjjyw_mondo_relaxed.owl CLN9 disease|CLN 9|ceroid lipofuscinosis, neuronal, 9|CLN9|neuronal ceroid lipofuscinosis type 9 DOID:0110733|MESH:C537953|Orphanet:79264|ICD10:E75.4|Orphanet:228357|GARD:0006618|OMIM:609055 https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9 owl:Class MONDO:0016626 biolink:NamedThing hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:248305|ICD10:D55.2 Editor note: TODO find relevant GO class owl:Class MONDO:0033954 biolink:NamedThing monoclonal mast cell activation syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:529468 owl:Class MONDO:0013426 biolink:NamedThing aneurysm-osteoarthritis syndrome tmpaxzxjjyw_mondo_relaxed.owl Loeys-Dietz syndrome, type 3|Loeys-Dietz syndrome 3|aneurysm - osteoarthritis syndrome|LDS3|aneurysm-osteoarthritis syndrome|Loeys-Dietz syndrome type 3|Loeys-Dietz syndrome with osteoarthritis|Loeys-Dietz syndrome, type 1C|Loeys-Dietz syndrome, type 1C, formerly|aneurysms-osteoarthritis syndrome|Loeys-Dietz syndrome, type 1C (formerly) GARD:0010997|Orphanet:284984|DOID:0070237|UMLS:C3151087|OMIM:613795 owl:Class MONDO:0023563 biolink:NamedThing Kotzot-Richter syndrome tmpaxzxjjyw_mondo_relaxed.owl oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies|albinism with immune and hematologic defects MESH:C537025|GARD:0003134|UMLS:C2931399 https://rarediseases.info.nih.gov/diseases/3134/kotzot-richter-syndrome owl:Class PATO:0001993 biolink:NamedThing multicellular A cellularity quality inhering in a bearer by virtue of the bearer's consisting of more than one cell. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000073 biolink:NamedThing spinal cord radial glial cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020487 biolink:NamedThing Pontiac fever Pontiac fever (PF) is a mild form of legionellosis manifesting with flu-like symptoms such as nausea, myalgia, fever, cough and headache but without pneumonia. tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10054161|ICD9:041.89|DOID:0050150|ICD10:A48.2|SCTID:240447002|UMLS:C0343528|Orphanet:99748|NCIT:C128335 owl:Class NCBITaxon:39724 biolink:NamedThing Circoviridae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001305 biolink:NamedThing laryngostenosis Narrowing of the laryngeal airway. tmpaxzxjjyw_mondo_relaxed.owl stenosis of larynx DOID:11527|SCTID:75547007|ICD9:478.74|ICD10:J38.6|UMLS:C0023075|MESH:D007829|NCIT:C79608|HP:0001602 owl:Class MONDO:0018064 biolink:NamedThing trigonocephaly-broad thumbs syndrome Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. tmpaxzxjjyw_mondo_relaxed.owl Hunter-Rudd-Hoffmann syndrome|Hunter Rudd Hoffmann syndrome SCTID:719949001|Orphanet:3365|ICD10:Q87.0|GARD:0002756 owl:Class HP:0000132 biolink:NamedThing Menorrhagia Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. tmpaxzxjjyw_mondo_relaxed.owl Hypermenorrhea|Abnormally heavy bleeding during menstruation|Abnormally heavy periods MSH:D008595|SNOMEDCT_US:386692008|UMLS:C0025323 HP:0100609 human_phenotype owl:Class MONDO:0013006 biolink:NamedThing isolated growth hormone deficiency type IB An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has material basis in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. tmpaxzxjjyw_mondo_relaxed.owl isolated growth hormone deficiency type 1B|congenital isolated GH deficiency type IB|dwarfism of Sindh|IGHD1B|IGHD 1B|congenital IGHD type IB|isolated Growth hormone deficiency, type 1B|IGHD IB|isolated growth hormone deficiency, type IB|congenital isolated growth hormone deficiency type IB GARD:0003919|OMIM:612781|Orphanet:231671|UMLS:C2748571|DOID:0060874|Orphanet:631|ICD10:E23.0|MESH:C567564 https://rarediseases.info.nih.gov/diseases/3919/isolated-growth-hormone-deficiency-type-1b owl:Class MONDO:0012304 biolink:NamedThing photoparoxysmal response 2 tmpaxzxjjyw_mondo_relaxed.owl photoparoxysmal response with or without idiopathic generalized epilepsy|PPR2|photoparoxysmal response 2 OMIM:609572|Orphanet:166409|UMLS:C1835967 owl:Class MONDO:0019074 biolink:NamedThing bilateral acute depigmentation of the iris Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure. tmpaxzxjjyw_mondo_relaxed.owl BADI Orphanet:69736|SCTID:720460007 owl:Class MONDO:0020850 biolink:NamedThing intellectual disability, autosomal recessive 65 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 65|intellectual disability, autosomal recessive 65|MRT65 OMIM:618109 owl:Class MONDO:0018208 biolink:NamedThing neurofibromatosis type 1 due to NF1 mutation or intragenic deletion tmpaxzxjjyw_mondo_relaxed.owl Von Recklinghausen disease due to NF1 mutation or intragenic deletion Orphanet:363700|OMIM:162200|UMLS:CN204726|ICD10:Q85.0|DOID:0111253 owl:Class MONDO:0012784 biolink:NamedThing autosomal recessive ataxia due to ubiquinone deficiency This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy. tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia, autosomal recessive 9|autosomal recessive ataxia due to coenzyme Q10 deficiency|SCAR9|autosomal recessive spinocerebellar ataxia type 9|coenzyme Q10 deficiency, primary, 4|autosomal recessive cerebellar ataxia type 2|coenzyme Q10 deficiency, primary, type 4|ARCA2|autosomal recessive spinocerebellar ataxia 9|COQ10D4 UMLS:C4511089|UMLS:C2677589|ICD10:G11.1|DOID:0070241|OMIM:612016|Orphanet:139485|MESH:C567436|SCTID:725394006|GARD:0010294 owl:Class MONDO:0006748 biolink:NamedThing epilepsia partialis continua A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. electroencephalography demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the cerebral cortex or from subcortical structures (e.g., brain stem; basal ganglia). This condition is associated with Russian Spring and Summer encephalitis (see encephalitis, tick borne); Rasmussen syndrome (see encephalitis); multiple sclerosis; diabetes mellitus; brain neoplasms; and cerebrovascular disorders. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319) tmpaxzxjjyw_mondo_relaxed.owl EFO:1000924|MedDRA:10015034|MESH:D017036|ICD9:345.7|ICD9:345.70|SCTID:241006 owl:Class MONDO:0014387 biolink:NamedThing leukoencephalopathy, progressive, with ovarian failure tmpaxzxjjyw_mondo_relaxed.owl LKENP|leukoencephalopathy, progressive, with ovarian failure UMLS:C4014588|OMIM:615889 owl:Class MONDO:0004409 biolink:NamedThing nipple duct carcinoma A carcinoma that develops in the ducts of the nipple. tmpaxzxjjyw_mondo_relaxed.owl nipple duct carcinoma NCIT:C27234|DOID:7953|UMLS:C1334967 owl:Class MONDO:0054748 biolink:NamedThing Fanconi anemia, complementation group S tmpaxzxjjyw_mondo_relaxed.owl FANCS|Fanconi anemia, complementation GROUP S|Fanconi anemia, complementation group S OMIM:617883 owl:Class MONDO:0018059 biolink:NamedThing meningococcal meningitis An acute bacterial disease caused by Neisseria meningitides that presents usually, but not always, with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl EFO:1001040|ICD10:A39.0+|Orphanet:33475|MedDRA:10027276|MedDRA:10027249|ICD9:036.0|MESH:D008585|DOID:0080176|SCTID:192644005|ICD10:A39.0|ICD10:G01*|UMLS:C0025294 owl:Class MONDO:0007708 biolink:NamedThing Kasabach-Merritt syndrome Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma. tmpaxzxjjyw_mondo_relaxed.owl Kasabach Merritt syndrome|hemangiomatosis with thrombocytopenia|thrombopenia-hemangioma syndrome|Kasabach Merritt phenomenon|hemangioma-thrombocytopenia syndrome|Kasabach-Merritt syndrome|KMP|hemangioma thrombocytopenia syndrome|thrombocytopenia-hemangioma syndrome|hemangioma-hemorrhage syndrome NCIT:C3821|OMIM:141000|Orphanet:2330|ICD10:D18.0|MedDRA:10058423|MESH:D059885|ICD9:287.39|UMLS:C0221025|SCTID:86635005|GARD:0000070 owl:Class MONDO:0007328 biolink:NamedThing choroidal osteoma, bilateral tmpaxzxjjyw_mondo_relaxed.owl choroidal osteoma, bilateral UMLS:C1861558|MESH:C566124|OMIM:118865 owl:Class MONDO:0001880 biolink:NamedThing median rhomboid glossitis tmpaxzxjjyw_mondo_relaxed.owl persistent tuberculum impar SCTID:7522008|ICD9:529.2|ICD9:750.19|ICD10:K14.2|DOID:14111 owl:Class MONDO:0004344 biolink:NamedThing childhood malignant hemangiopericytoma A malignant hemangiopericytoma occurring in childhood. tmpaxzxjjyw_mondo_relaxed.owl malignant childhood hemangiopericytoma|malignant pediatric hemangiopericytoma|malignant hemangiopericytoma UMLS:C0279983|NCIT:C8090|DOID:7731 Editor note: check SFT/hemangiopericytoma/spindle cell tumor owl:Class MONDO:0015994 biolink:NamedThing muscular dystrophy-white matter spongiosis syndrome tmpaxzxjjyw_mondo_relaxed.owl Atrophie blanche|muscular dystrophy white matter spongiosis Orphanet:1877|GARD:0003854|UMLS:CN200619|ICD10:G71.2 https://rarediseases.info.nih.gov/diseases/3854/muscular-dystrophy-white-matter-spongiosis owl:Class MONDO:0022573 biolink:NamedThing biliary atresia intrahepatic non syndromic form tmpaxzxjjyw_mondo_relaxed.owl GARD:0000887 https://rarediseases.info.nih.gov/diseases/887/biliary-atresia-intrahepatic-non-syndromic-form owl:Class MONDO:0010546 biolink:NamedThing central incisors, absence of tmpaxzxjjyw_mondo_relaxed.owl central incisors, absence of OMIM:302400 owl:Class UBERON:0015148 biolink:NamedThing tail hair tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012441 biolink:NamedThing migraine with or without aura, susceptibility to, 11 tmpaxzxjjyw_mondo_relaxed.owl migraine with or without aura, susceptibility to, type 11|migraine with or without aura, susceptibility to, 11|Mgr11 OMIM:610209 owl:Class MONDO:0016442 biolink:NamedThing elastoma tmpaxzxjjyw_mondo_relaxed.owl juvenile elastoma without osteopoikilosis|Nevus elasticus|Weidman juvenile elastoma SCTID:239140003|ICD9:215.9|UMLS:C0473583|Orphanet:228254 owl:Class MONDO:0009137 biolink:NamedThing dysmyelination with jaundice tmpaxzxjjyw_mondo_relaxed.owl dysmyelination with jaundice UMLS:C1857143|OMIM:224250|MESH:C565610 owl:Class MONDO:0022965 biolink:NamedThing desmoplastic infantile ganglioglioma A WHO grade I large cystic tumor that occurs almost exclusively in infants, with a prominent desmoplastic stroma having a neuroepithelial population of neoplastic astrocytes together with a variable neuronal component. It involves the superficial cerebral cortex and leptomeninges, and often attaches to the dura. Although clinically it presents as a large tumor, it generally has a good prognosis following surgical resection. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl DIG|Desmoplastic infantile ganglioglioma GARD:0008648|ONCOTREE:DIG|NCIT:C4738|UMLS:C1321878 https://rarediseases.info.nih.gov/diseases/8648/desmoplastic-infantile-ganglioglioma owl:Class MONDO:0007873 biolink:NamedThing lactic acidosis, chronic adult form tmpaxzxjjyw_mondo_relaxed.owl lactic acidosis, chronic adult form OMIM:150170|UMLS:C1835591|MESH:C563640 owl:Class HP:0000175 biolink:NamedThing Cleft palate Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). tmpaxzxjjyw_mondo_relaxed.owl Cleft of palate|Cleft roof of mouth|Cleft palate|Palatoschisis|Uranostaphyloschisis|Cleft hard and soft palate|Cleft secondary palate|Cleft of hard and soft palate SNOMEDCT_US:87979003|SNOMEDCT_US:63567004|MSH:D002972|UMLS:C0008925|UMLS:C2981150|Fyler:4876 Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. HP:0410004 human_phenotype owl:Class HP:0040075 biolink:NamedThing Hypopituitarism tmpaxzxjjyw_mondo_relaxed.owl MSH:D007018|UMLS:C0020635|SNOMEDCT_US:74728003 HPO:skoehler human_phenotype owl:Class MONDO:0006179 biolink:NamedThing desmoplastic ameloblastoma An ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands. tmpaxzxjjyw_mondo_relaxed.owl desmoplastic ameloblastoma NCIT:C39758|EFO:1000215|UMLS:C0457533 owl:Class MONDO:0000452 biolink:NamedThing progressive relapsing multiple sclerosis A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. tmpaxzxjjyw_mondo_relaxed.owl PRMS|progressive-relapsing MS SCTID:230374002|UMLS:C0393666|DOID:0050785|MESH:D020528 owl:Class MONDO:0010884 biolink:NamedThing muscular dystrophy, scapulohumeral tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, scapulohumeral MESH:C562932|OMIM:600416|UMLS:C0410192|Orphanet:269|SCTID:240074006 owl:Class MONDO:0001808 biolink:NamedThing chronic subinvolution of uterus tmpaxzxjjyw_mondo_relaxed.owl SCTID:198315005|UMLS:C0156370|DOID:13811|ICD9:621.1 owl:Class MONDO:0042496 biolink:NamedThing ergotism Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine. tmpaxzxjjyw_mondo_relaxed.owl fire, St. Anthonys|St. Anthonys fire|Saint Anthonys fire|ergotism|Saint Anthony fire|St. Anthony's fire|ergotisms|St Anthony's fire|poisoning, ergot|poisonings, ergot|Saint Anthony's fire|ergot poisoning|St. Anthony fire|ergot poisonings SCTID:51510002|MESH:D004881|GARD:0000196|ICD9:988.2 owl:Class MONDO:0001864 biolink:NamedThing residual stage angle-closure glaucoma tmpaxzxjjyw_mondo_relaxed.owl residual stage of angle-closure glaucoma ICD9:365.24|DOID:1404|UMLS:C0154948|ICD10:H40.24|SCTID:55129006 owl:Class MONDO:0022826 biolink:NamedThing congenital cystic eye multiple ocular and intracranial anomalies tmpaxzxjjyw_mondo_relaxed.owl GARD:0001479 https://rarediseases.info.nih.gov/diseases/1479/congenital-cystic-eye-multiple-ocular-and-intracranial-anomalies owl:Class MONDO:0016504 biolink:NamedThing primary unilateral adrenal hyperplasia Primary unilateral adrenal hyperplasia (PUAH) is a surgically-correctable form of primary (hyper) aldosteronism (PA) characterized by renin suppression, unilateral aldosterone hypersecretion, and moderate to severe hypertension secondary to hyperplasia of the adrenal gland. tmpaxzxjjyw_mondo_relaxed.owl PUAH ICD10:E26.0|UMLS:C4274967|Orphanet:231580|SCTID:715868005 owl:Class MONDO:0008571 biolink:NamedThing Blount disease, infantile tmpaxzxjjyw_mondo_relaxed.owl tibia vara, infantile|Blount disease, infantile|Osteochondrosis deformans tibiae, infantile OMIM:188700|UMLS:C3150037|Orphanet:2768 owl:Class MONDO:0011492 biolink:NamedThing mandibulofacial dysostosis syndrome, Bauru type tmpaxzxjjyw_mondo_relaxed.owl mandibulofacial dysostosis syndrome, Bauru type MESH:C565744|OMIM:604830|UMLS:C1858101 owl:Class MONDO:0006783 biolink:NamedThing hemopneumothorax Collection of air and blood in the pleural cavity. tmpaxzxjjyw_mondo_relaxed.owl MESH:D006468|SCTID:16632002|DOID:2718|ICD10:J94.2|UMLS:C0019077|MedDRA:10060632|EFO:1000963|ICD9:511.89 owl:Class MONDO:0007177 biolink:NamedThing auriculoosteodysplasia Auriculoosteodysplasia is a very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature. tmpaxzxjjyw_mondo_relaxed.owl multiple osseous dysplasia, characteristic ear shape, and short stature|auriculoosteodysplasia|auriculo-osteodysplasia Orphanet:114|MESH:C538271|OMIM:109000|UMLS:C1862381|ICD10:Q87.5|GARD:0008663 https://rarediseases.info.nih.gov/diseases/8663/auriculoosteodysplasia owl:Class NCBITaxon:71274 biolink:NamedThing asterids tmpaxzxjjyw_mondo_relaxed.owl Asteridae PMID:12144762|GC_ID:1 ncbi_taxonomy owl:Class CHEBI:73216 biolink:NamedThing EC 3.6.* (hydrolases acting on acid anhydrides) inhibitor Any hydrolase inhibitor that interferes with the action of a hydrolase which acts on acid anhydrides (EC 3.6.*.*). tmpaxzxjjyw_mondo_relaxed.owl EC 3.6 inhibitors|EC 3.6.*.* inhibitors|inhibitor of hydrolase acting on acid anhydride (EC 3.6.*)|acid anhydride hydrolase inhibitors|EC 3.6.* (hydrolases acting on acid anhydrides) inhibitors|EC 3.6.*.* inhibitor|inhibitors of hydrolase acting on acid anhydride (EC 3.6.*)|EC 3.6.* inhibitor|acid anhydride hydrolase inhibitor|EC 3.6 inhibitor|EC 3.6.* inhibitors owl:Class MONDO:0006665 biolink:NamedThing chronic atrophic gastritis Atrophic gastritis that is persistent and long-standing. tmpaxzxjjyw_mondo_relaxed.owl atrophic Gastritides|Gastritides, atrophic|atrophic gastritis|gastric atrophy ICD9:535.11|MESH:D005757|MedDRA:10003685|NCIT:C7405|ICD9:535.1|ICD9:535.10|ICD10:K29.4|DOID:8929|EFO:1000826|SCTID:84568007 owl:Class MONDO:0001984 biolink:NamedThing candidal paronychia A candidiasis that results in fungal infection of the outer-most layer located in nail, has material basis in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. tmpaxzxjjyw_mondo_relaxed.owl candidiasis of skin and nails|candidiasis of skin ICD10:B37.2|SCTID:187014000|UMLS:C0006842|ICD9:112.3|UMLS:C1282977|DOID:14512 owl:Class MONDO:0018967 biolink:NamedThing short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia tmpaxzxjjyw_mondo_relaxed.owl OMIM:307200|ICD10:E23.0|Orphanet:632 Editor note: classified as both isolated and syndromic in ORDO owl:Class HGNC:7518 biolink:NamedThing MUC7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0029131 biolink:NamedThing peripheral neuropathy, autosomal recessive, with or without impaired intellectual development tmpaxzxjjyw_mondo_relaxed.owl PNRIID|peripheral neuropathy, autosomal recessive, with or without impaired intellectual development OMIM:618124 owl:Class MONDO:0008606 biolink:NamedThing Say-field-Coldwell syndrome Say-Field-Coldwell syndrome is characterised by triphalangeal thumbs, brachydactyly, camptodactyly, recurrent dislocation of the patellas and relatively short stature. It has been described in a mother and her three daughters. tmpaxzxjjyw_mondo_relaxed.owl triphalangeal thumbs-dislocation of patella syndrome|triphalangeal thumbs and dislocation of patella|polydactyly with triphalangeal thumbs, brachydactyly, camptodactyly, congenital dislocation of the patellas, short stature and borderline intelligence MESH:C536619|GARD:0000242|Orphanet:3133|ICD10:Q74.8|OMIM:190650|UMLS:C1860805 https://rarediseases.info.nih.gov/diseases/242/say-field-coldwell-syndrome owl:Class MONDO:0008454 biolink:NamedThing spinal intradural arachnoid cysts Spinal intradural arachnoid cysts are cerebrospinal fluid -filled sacs that are located between the spinal cord and the arachnoid membrane (one of the three membranes that cover the brain and spinal cord). The signs and symptoms of the condition vary based on the size and location of the cysts. Some affected people may have no suspicious symptoms while others experience progressive back and leg pain; tingling or numbness in the hands or feet; weakness of the legs; and involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs. When present, symptoms usually occur when the cysts compress the spinal cord or other nearby nerves. Spinal intradural arachnoid cysts are often present at birth and arecaused by developmental abnormalities in the spinal cord that occur during the pregnancy. They can also result from a previous infection or injury and develop later in life. Although there is disagreement in the medical community regarding when to treat spinal intradural arachnoid cysts, the need for treatment generally depends on the size and location of the cyst and whether or not it is causing symptoms. When indicated, the cysts are typically treated with surgery. tmpaxzxjjyw_mondo_relaxed.owl spinal intradural arachnoid cysts|arachnoid cysts, spinal intradural MESH:C536878|OMIM:182990|GARD:0009701|Orphanet:2356 https://rarediseases.info.nih.gov/diseases/9701/spinal-intradural-arachnoid-cysts owl:Class MONDO:0012051 biolink:NamedThing periodontitis, aggressive, 2 tmpaxzxjjyw_mondo_relaxed.owl periodontitis, aggressive, 2|periodontitis, aggressive, type 2 UMLS:C1969478|OMIM:608526|MESH:C566946 owl:Class MONDO:0006066 biolink:NamedThing acinar prostate adenocarcinoma, foamy gland variant A variant of acinar prostate adenocarcinoma characterized by the presence of malignant cells with abundant xanthomatous appearing cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515863|EFO:1000064|NCIT:C39882 owl:Class HGNC:753 biolink:NamedThing ASNS tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0042135 biolink:NamedThing neurotransmitter catabolic process The chemical reactions and pathways resulting in the breakdown of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. tmpaxzxjjyw_mondo_relaxed.owl neurotransmitter catabolism|neurotransmitter degradation|neurotransmitter breakdown owl:Class MONDO:0027462 biolink:NamedThing autosomal recessive cutis laxa type 2C An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. tmpaxzxjjyw_mondo_relaxed.owl cutis laxa, autosomal recessive, type IIC|ARCL2C|cutis laxa, autosomal recessive, type 2C|autosomal recessive cutis laxa type IIC OMIM:617402|ICD10:Q82.8|DOID:0070140|Orphanet:357074 owl:Class MONDO:0100069 biolink:NamedThing hearing impairment and infertile male syndrome A syndromic genetic deafness characterized by segregation of nonsyndromic hearing loss in females and hearing loss with infertility in males. Affected males have been reported to have low count to absent sperm, immobile sperm, and/or sperm with abnormal morphology. tmpaxzxjjyw_mondo_relaxed.owl HIIMS|hearing impairment and infertile male syndrome 2018-12-17 19:16:55+00:00 There appear to be two distinct diseases that segregate with autosomal recessive variants. AR variants in CDC14A segregate in at least two families with nonsyndromic hearing loss in which affected males have fathered children (PMID:29293958). Additionally, there are at least five families that segregate with AR variants in CDC14A in which affected females have nonsyndromic hearing loss and affected males have hearing loss and infertility (PMID:29293958). owl:Class MONDO:0007258 biolink:NamedThing canine teeth, absence of upper permanent tmpaxzxjjyw_mondo_relaxed.owl canine teeth, absence of upper permanent UMLS:C1861899|OMIM:114600 owl:Class MONDO:0049222 biolink:NamedThing intellectual disability, X-linked 107 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, X-linked 107|intellectual disability, X-linked 107|MRX107 OMIM:301013 owl:Class HGNC:7849 biolink:NamedThing NME1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012214 biolink:NamedThing glucocorticoid deficiency 3 tmpaxzxjjyw_mondo_relaxed.owl glucocorticoid deficiency 2|familial glucocorticoid deficiency 3|glucocorticoid deficiency 3|GCCD3|glucocorticoid deficiency 2, formerly Orphanet:361|OMIM:609197|UMLS:C1836621 owl:Class NCBITaxon:29960 biolink:NamedThing Penaeus indicus tmpaxzxjjyw_mondo_relaxed.owl Fenneropenaeus indicus|Penaeus (Fenneropenaeus) indicus GC_ID:1 ncbi_taxonomy owl:Class MONDO:0022220 biolink:NamedThing Parinaud syndrome A rare syndrome affecting conjugate vertical eye movement. It is often caused by a dorsal midbrain neoplasm, commonly a pinealoma, but may also be attributable to demyelinating diseases or stroke. Clinical signs include limitation of upward gaze, light-near dissociation of the pupillary response, eyelid retraction (Collier's sign) and convergence-retraction nystagmus. Clinical course is dependent on effective treatment of underlying cause. tmpaxzxjjyw_mondo_relaxed.owl Parinauds syndrome|dorsal midbrain syndrome|syndrome, Parinaud|Parinaud syndrome|paralysis of vertical movement|vertical gaze palsy - Parinaud|Parinaud's syndrome|Parinaud's ophthalmoplegia|syndrome, Parinaud's SCTID:37991008|MEDGEN:57754|NCIT:C54102|UMLS:C0152222 owl:Class MONDO:0003679 biolink:NamedThing anteroseptal myocardial infarction tmpaxzxjjyw_mondo_relaxed.owl MESH:D056988|UMLS:C0262565|DOID:5855 owl:Class MONDO:0012608 biolink:NamedThing autosomal recessive lower motor neuron disease with childhood onset A rare, genetic, neuromuscular disease characterized by proximal muscle weakness with an early involvement of foot and hand muscles following normal motor development in early childhood, a rapidly progressive disease course leading to generalized areflexic tetraplegia with contractures, severe scoliosis, hyperlordosis, and progressive respiratory insufficiency leading to assisted ventilation. Cranial nerve functions are normal and tongue wasting and fasciculations are absent. Milder phenotype with a moderate generalized weakness and slower disease progress was reported. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive distal spinal muscular atrophy type 4|DSMA4|distal spinal muscular atrophy type 4|dSMA4|spinal muscular atrophy, distal, autosomal recessive, 4|spinal muscular atrophy, distal, autosomal recessive, type 4 ICD10:G12.2|MESH:C567023|OMIM:611067|DOID:0111213|Orphanet:206580|UMLS:C1970211 owl:Class HP:0008398 biolink:NamedThing Hypoplastic fifth fingernail A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. tmpaxzxjjyw_mondo_relaxed.owl Underdeveloped fifth fingernail|Underdeveloped fingernail of little finger|Underdeveloped fingernail of pinky finger|Underdeveloped fingernail of pinkie finger UMLS:C4024682 HP:0200103 human_phenotype owl:Class MONDO:0019884 biolink:NamedThing distal trisomy 10q Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. tmpaxzxjjyw_mondo_relaxed.owl distal duplication 10q|trisomy 10qter|telomeric duplication 10q|distal trisomy type 10q Orphanet:96102|ICD10:Q92.3|MESH:C538087|SCTID:718689000 owl:Class MONDO:0007910 biolink:NamedThing lipoprotein types--Lt system tmpaxzxjjyw_mondo_relaxed.owl lipoprotein types--Lt system OMIM:152300|UMLS:C1835359 owl:Class MONDO:0011295 biolink:NamedThing schizophrenia 7 A schizophrenia that has material basis in an autosomal dominant mutation of SCZD7 on chromosome 13q32. tmpaxzxjjyw_mondo_relaxed.owl SCZD7|schizophrenia 7 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 13Q-related|schizophrenia 7 OMIM:603176|DOID:0070083 owl:Class MONDO:0004706 biolink:NamedThing discoid lupus erythematosus of eyelid tmpaxzxjjyw_mondo_relaxed.owl SCTID:79291003|DOID:9076|ICD10:H01.12|ICD9:373.34|UMLS:C0155180 owl:Class MONDO:0004213 biolink:NamedThing vulvar non-keratinizing squamous cell carcinoma A squamous cell carcinoma that arises from the vulva and is characterized by the absence of keratin pearls. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40285|DOID:7409|UMLS:C1520092 owl:Class MONDO:0007224 biolink:NamedThing brachydactyly, type E, with atrial septal defect, type 2 tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, type E, with atrial septal defect, type II OMIM:113301|MESH:C566193|UMLS:C1862101 owl:Class MONDO:0011263 biolink:NamedThing skeletal dysplasia and progressive central nervous system degeneration, lethal tmpaxzxjjyw_mondo_relaxed.owl skeletal dysplasia and progressive central nervous system degeneration, lethal MESH:C566514|UMLS:C1865117|OMIM:602613 owl:Class MONDO:0018298 biolink:NamedThing multicentric osteolysis-nodulosis-arthropathy spectrum A rare genetic chronic skeletal disorder characterized by peripheral osteolysis (especially carpal and tarsal bones), interphalangeal joint erosions, subcutaneous fibrocollagenous nodules, facial dysmorphism, and a wide range of associated manifestations. tmpaxzxjjyw_mondo_relaxed.owl mona spectrum OMIM:277950|OMIM:259600|UMLS:CN227313|Orphanet:371428|SCTID:716868003|ICD10:Q85.9 owl:Class MONDO:0015396 biolink:NamedThing congenital laryngeal cyst Congenital laryngeal cyst is a rare larynx anomaly characterized by a cyst involving the larynx or supraglottis locations, such as the epiglottis and vallecula. Timing and severity of presentation depend on the size of the cyst and its proximity to the glottis and range from severe prenatal airway obstruction leading to polyhydramnios and pulmonary hypoplasia to postnatal inspiratory stridor associated with muffled cry, hoarseness and cyanotic episodes, and to feeding difficulties and failure to thrive. It can be associated with laryngomalacia. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:141124|UMLS:C0339880|SCTID:765763007|ICD10:Q31.8 owl:Class MONDO:0009059 biolink:NamedThing cysteine Peptiduria tmpaxzxjjyw_mondo_relaxed.owl cysteine Peptiduria UMLS:C1857438|MESH:C565659|OMIM:219550 owl:Class MONDO:0008381 biolink:NamedThing dominant pericentral pigmentary retinopathy A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. tmpaxzxjjyw_mondo_relaxed.owl retinopathy, pericentral pigmentary, dominant UMLS:C1867261|MESH:C566713|ICD10:H35.5|DOID:0110420|Orphanet:791|OMIM:180210 owl:Class MONDO:0014483 biolink:NamedThing retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies tmpaxzxjjyw_mondo_relaxed.owl retinal dystrophy with inner nuclear layer and ganglion cell anomalies|retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities|RDGCA Orphanet:397758|UMLS:C4015146|ICD10:H35.5|OMIM:616079 owl:Class MONDO:0022151 biolink:NamedThing Chitty Hall Webb syndrome tmpaxzxjjyw_mondo_relaxed.owl bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay GARD:0001277|SCTID:725103004|UMLS:C2931066|MESH:C535929 https://rarediseases.info.nih.gov/diseases/1277/chitty-hall-webb-syndrome owl:Class MONDO:0011710 biolink:NamedThing specific language impairment 1 tmpaxzxjjyw_mondo_relaxed.owl SLI1|specific language impairment quantitative trait locus on chromosome 16|specific language impairment 1 OMIM:606711|UMLS:C1847614 owl:Class MONDO:0007754 biolink:NamedThing hyperhidrosis palmaris ET plantaris tmpaxzxjjyw_mondo_relaxed.owl hyperhidrosis palmaris ET plantaris|HYPRPP|hyperhidrosis, primary palmar MESH:C563185|UMLS:C1274743|OMIM:144110 owl:Class MONDO:0009136 biolink:NamedThing dyskeratosis congenita, autosomal recessive 1 A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14. tmpaxzxjjyw_mondo_relaxed.owl dyskeratosis congenita, autosomal recessive type 1|autosomal recessive dyskeratosis congenita 1|autosomal recessive dyskeratosis congenita|DKCB1|DKCB|dyskeratosis congenita autosomal recessive|dyskeratosis congenita, autosomal recessive 1 Orphanet:1775|MESH:C565611|UMLS:C1857144|OMIM:224230|GARD:0006300|SCTID:707272006|DOID:0070015 https://rarediseases.info.nih.gov/diseases/6300/dyskeratosis-congenita-autosomal-recessive owl:Class MONDO:0024954 biolink:NamedThing larva migrans, visceral A condition produced in humans by the prolonged migration of animal nematode larvae in extraintestinal tissues other than skin; characterized by persistent hypereosinophilia, hepatomegaly, and frequently pneumonitis, commonly caused by Toxocara canis and Toxocara cati. tmpaxzxjjyw_mondo_relaxed.owl Migran, visceral larva|visceral larva migrans|migrans, visceral larva|larva Migran, visceral|visceral larva migrans syndrome|visceral larva Migran MESH:D007816 owl:Class MONDO:0032846 biolink:NamedThing osteogenesis imperfecta, type 20 tmpaxzxjjyw_mondo_relaxed.owl OI20|OSTEOGENESIS IMPERFECTA, TYPE XX OMIM:618644 owl:Class GO:0051356 biolink:NamedThing visual perception involved in equilibrioception The series of events during equilibrioception required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual input plays an important role in the ability of an organism to perceive its orientation with respect to gravity. tmpaxzxjjyw_mondo_relaxed.owl perception of orientation with respect to gravity by visual perception|visual perception during equilibrioception|equilibrioception by visual perception owl:Class MONDO:0020495 biolink:NamedThing peho-like syndrome PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. tmpaxzxjjyw_mondo_relaxed.owl PEHOL|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome|peho-like syndrome OMIM:617507|Orphanet:99807|OMIM:260565 owl:Class MONDO:0016439 biolink:NamedThing elastoderma Elastoderma is a rare condition that affects the skin. People affected by elastoderma generally have increased laxity of skin covering a specific area of the body. Decreased recoil of the skin has also been reported. Although any part of the body can be affected, the skin of the neck and extremities (arms and legs, especially at the elbows and/or knees) are most commonly involved. The exact underlying cause is currently unknown; however, it generally occurs sporadically in people with no family history of the condition. There is no standard therapy available for elastoderma. Some cases have been treated with surgical excision (removal of affected skin), but hyperlaxity of skin often returns following the surgery. tmpaxzxjjyw_mondo_relaxed.owl ICD9:701.8|UMLS:C0406555|Orphanet:228240|SCTID:238832003|GARD:0012716 https://rarediseases.info.nih.gov/diseases/12716/elastoderma owl:Class MONDO:0044795 biolink:NamedThing epithelioid cell nevus A nevus characterized by the presence of large epithelioid melanocytes. tmpaxzxjjyw_mondo_relaxed.owl epithelioid cell nevus NCIT:C66757|UMLS:C0259820 owl:Class MONDO:0007784 biolink:NamedThing selective pituitary resistance to thyroid hormone Pituitary resistance to thyroid hormone is a rare, genetic thyroid disease, due to reduced pituitary gland responsiveness to thyroid hormone, characterized by mild to moderate hyperthyroidism in association with elevated circulating thyroid hormone levels, normal or elevated thyroid stimulating hormone, and no abnormalities of the pituitary gland on MRI. Patients present with diffuse large goiter, tachycardia, atrial fibrillation, weight loss and/or heat intolerance/perspiration, but no exophthalmos or anterior tibial mixedema. tmpaxzxjjyw_mondo_relaxed.owl hyperthyroidism, familial, due to inappropriate thyrotropin secretion|pituitary resistance to thyroid hormone|PRTH|thyroid hormone resistance, selective pituitary Orphanet:165994|UMLS:C1840364|ICD10:E05.8|OMIM:145650|DOID:0111374|MESH:C564154 owl:Class HGNC:4704 biolink:NamedThing GYPC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012609 biolink:NamedThing Alzheimer disease 12 An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. tmpaxzxjjyw_mondo_relaxed.owl Alzheimer's disease 12|Alzheimer disease 12|AD12|Alzheimer disease type 12|Ad12|Alzheimer disease familial 12|Alzheimer's disease type 12|Alzheimer disease, familial, 12 DOID:0110045|UMLS:C1970209|OMIM:611073|Orphanet:1020|MESH:C567022|ICD10:G30 owl:Class MONDO:0004895 biolink:NamedThing accommodative esotropia tmpaxzxjjyw_mondo_relaxed.owl ICD9:378.35|ICD10:H50.43|UMLS:C0155336|SCTID:419494007|DOID:9839 owl:Class MONDO:0019149 biolink:NamedThing cholesteryl ester storage disease Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption. tmpaxzxjjyw_mondo_relaxed.owl cholesterol ester storage disease|CESD Orphanet:75234|GARD:0012099|UMLS:C0008384|OMIM:278000|DOID:14502|SCTID:57218003|ICD10:E75.5 owl:Class MONDO:0017401 biolink:NamedThing familial isolated arrhythmogenic ventricular dysplasia, left dominant form tmpaxzxjjyw_mondo_relaxed.owl familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form Orphanet:293888|OMIM:610193|UMLS:CN203145|OMIM:107970|ICD10:I42.8 owl:Class MONDO:0022586 biolink:NamedThing bone dysplasia Moore type tmpaxzxjjyw_mondo_relaxed.owl GARD:0000923 https://rarediseases.info.nih.gov/diseases/923/bone-dysplasia-moore-type owl:Class NCBITaxon:34064 biolink:NamedThing Francisellaceae tmpaxzxjjyw_mondo_relaxed.owl Francisella group PMID:22939414|PMID:26747442|GC_ID:11|PMID:16280474 ncbi_taxonomy owl:Class MONDO:0015479 biolink:NamedThing submucosal cleft palate tmpaxzxjjyw_mondo_relaxed.owl Orphanet:155878|ICD10:Q35.9 owl:Class MONDO:0017154 biolink:NamedThing pulmonary arterial hypertension associated with portal hypertension Pulmonary arterial hypertension associated with portal hypertension (PAH-PH) is a form of pulmonary arterial hypertension (PAH), characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of portal hypertension. tmpaxzxjjyw_mondo_relaxed.owl POPH|PAH associated with portal hypertension|Portopulmonary hypertension 2022-03-01 UMLS:C1868851|EFO:0009197|ICD10:I27.2|Orphanet:275813|SCTID:445237003 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class MONDO:0005873 biolink:NamedThing neuroaspergillosis Infections of the nervous system caused by fungi of the genus aspergillus, most commonly aspergillus fumigatus. Aspergillus infections may occur in immunocompetent hosts, but are more prevalent in individuals with immunologic deficiency syndromes. The organism may spread to the nervous system from focal infections in the lung, mastoid region, sinuses, inner ear, bones, eyes, gastrointestinal tract, and heart. Sinus infections may be locally invasive and enter the intracranial compartment, producing meningitis, fungal; cranial neuropathies; and abscesses in the frontal lobes of the brain. (From Joynt, Clinical Neurology, 1998, Ch 27, pp62-3) tmpaxzxjjyw_mondo_relaxed.owl MESH:D020953|EFO:0007393|DOID:13565|UMLS:C0752342 owl:Class MONDO:0015041 biolink:NamedThing myelodysplastic syndrome with excess blasts-2 A myelodysplastic syndrome defined by 10-19% blasts in the bone marrow or 5-19% blasts in the blood and <10% blasts in the bone marrow. Approximately 33% of cases progress to acute leukemia. The prognosis is usually poor. (WHO) tmpaxzxjjyw_mondo_relaxed.owl myelodysplastic syndrome with Excess blasts-2|refractory anemia with excess blasts type 2|RAEB-2|MDS-EB-2|RAEB-II ICD10:D46.2|UMLS:C1318551|NCIT:C7168|Orphanet:100020 owl:Class HGNC:33020 biolink:NamedThing SNORD115-1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008528 biolink:NamedThing tear protein, anodal tmpaxzxjjyw_mondo_relaxed.owl tear protein, anodal OMIM:186890|UMLS:C1861283 owl:Class MONDO:0008230 biolink:NamedThing peroxidase, salivary tmpaxzxjjyw_mondo_relaxed.owl SAPX|peroxidase, salivary OMIM:170990 owl:Class MONDO:0025152 biolink:NamedThing non-human ape disease Diseases of chimpanzees, gorillas, and orangutans. tmpaxzxjjyw_mondo_relaxed.owl disease, ape|disease, Pongidae|ape disease|Pongidae diseases|Pongidae disease|diseases, ape|diseases, Pongidae UMLS:C0242635|MESH:D018420 owl:Class MONDO:0010636 biolink:NamedThing Kallmann syndrome with spastic paraplegia tmpaxzxjjyw_mondo_relaxed.owl Kallmann syndrome with spastic paraplegia|spastic paraplegia-Kallmann syndrome MESH:C536873|OMIM:308750|UMLS:C1839911 owl:Class MONDO:0023022 biolink:NamedThing dwarfism thin bones multiple fractures tmpaxzxjjyw_mondo_relaxed.owl GARD:0001992 https://rarediseases.info.nih.gov/diseases/1992/dwarfism-thin-bones-multiple-fractures owl:Class MONDO:0011004 biolink:NamedThing lissencephaly type 3-metacarpal bone dysplasia syndrome This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence. tmpaxzxjjyw_mondo_relaxed.owl lissencephaly type 3 and bone dysplasia|lissencephaly type III and bone dysplasia OMIM:601160|UMLS:C1832678|MESH:C563383|ICD10:Q04.3|SCTID:718720007|Orphanet:86822 owl:Class PATO:0000411 biolink:NamedThing circular A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center. tmpaxzxjjyw_mondo_relaxed.owl rounded|round owl:Class MONDO:0009680 biolink:NamedThing congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. It has been described in seven individuals from an isolated Norwegian village and in one unrelated individual. Transmission appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, congenital, infantile with cataract and hypogonadism|benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract|muscular dystrophy, congenital, with infantile cataract and hypogonadism|Bassoe syndrome|familial congenital muscular dystrophy with gonadal dysgenesis Orphanet:1875|OMIM:254000|GARD:0003842|GARD:0000835|UMLS:C2931578|UMLS:C1850864 owl:Class MONDO:0009790 biolink:NamedThing Opticocochleodentate degeneration tmpaxzxjjyw_mondo_relaxed.owl Opticocochleodentate degeneration OMIM:258700|ICD9:333.90|UMLS:C0520711|MESH:C563002|SCTID:77553008 owl:Class MONDO:0007017 biolink:NamedThing vitreous detachment Detachment of the vitreous humor from the retina. tmpaxzxjjyw_mondo_relaxed.owl vitreous, detachment Of|detachment Of vitreous MedDRA:10047650|NCIT:C50807|UMLS:C0042907|SCTID:53772007|EFO:1001238|DOID:9726|ICD10:H43.81|MESH:D020255 owl:Class MONDO:0022071 biolink:NamedThing carbon baby syndrome Carbon baby syndrome, also known as universal acquired melanosis, is a rare form of hyperpigmentation. The skin of affected infants progressively darkens over the first years of life in the absence of other symptoms. The cause of the condition is unknown. tmpaxzxjjyw_mondo_relaxed.owl universal acquired melanosis UMLS:C0406419|GARD:0001089|SCTID:238700008 https://rarediseases.info.nih.gov/diseases/1089/carbon-baby-syndrome owl:Class MONDO:0033969 biolink:NamedThing inflammatory bowel disease-recurrent sinopulmonary infections syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:529980 owl:Class MONDO:0004495 biolink:NamedThing myotonic cataract A cataract occurring as a sequela of myotonic dystrophy. tmpaxzxjjyw_mondo_relaxed.owl ICD9:359.29|DOID:82|NCIT:C34833|UMLS:C0027128|ICD9:366.43|SCTID:64741003 owl:Class CL:1000398 biolink:NamedThing endothelial cell of hepatic sinusoid An endothelial cell that is part of the hepatic sinusoid. These cells possess flattened areas containing perforations about 0.1 micrometers in diameter, known as fenestrae. The fenestrae are arranged in groups known as sieve plates. tmpaxzxjjyw_mondo_relaxed.owl LSEC|endotheliocyte of hepatic sinusoid|liver sinusoidal endothelial cell FMA:62911|BTO:000125 cell owl:Class MONDO:0008377 biolink:NamedThing retinitis pigmentosa 1 Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP1 gene. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa|retinitis pigmentosa caused by mutation in RP1|retinitis pigmentosa 1|retinitis pigmentosa type 1|RP1 retinitis pigmentosa|RP|RP1 GARD:0009149|OMIM:180100|DOID:0110390|UMLS:C0035334|UMLS:C0220701|MESH:C538365|ICD10:H35.5 owl:Class HGNC:10263 biolink:NamedThing RP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012106 biolink:NamedThing microcephaly 5, primary, autosomal recessive Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive primary microcephaly caused by mutation in ASPM|MCPH5|ASPM autosomal recessive primary microcephaly|microcephaly 5, primary, autosomal recessive UMLS:C1837501|DOID:0070280|MESH:C563871|OMIM:608716 owl:Class MONDO:0008026 biolink:NamedThing autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures tmpaxzxjjyw_mondo_relaxed.owl Sma-led|spinal muscular atrophy, LOWER extremity-predominant, 1, autosomal dominant|Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures|spinal muscular atrophy, childhood, proximal, autosomal dominant|spinal muscular atrophy, juvenile, proximal, autosomal dominant|Kugelberg-Welander syndrome, autosomal dominant|SMALED1 ICD10:G12.1|MESH:C563560|OMIM:158600|UMLS:C1834690|Orphanet:363447|Orphanet:209341 owl:Class HGNC:6172 biolink:NamedThing STT3A tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0035228 biolink:NamedThing tonsillar fossa tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3546 biolink:NamedThing F8 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020655 biolink:NamedThing juvenile ankylosing spondylitis tmpaxzxjjyw_mondo_relaxed.owl SCTID:239805001|DOID:0040092 owl:Class MONDO:0013983 biolink:NamedThing ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive|ectodermal dysplasia, anhidrotic|ectodermal dysplasia, hypohidrotic|ECTD11B Orphanet:248|OMIM:614941|UMLS:C3539920|Orphanet:238468|DOID:0111654 owl:Class CL:0019001 biolink:NamedThing tracheobronchial serous cell Any serous secreting cell that is part of the tracheobronchial epithelium. tmpaxzxjjyw_mondo_relaxed.owl serous cell of tracheobronchial tree 2020-05-07 16:03:27+00:00 owl:Class MONDO:0700129 biolink:NamedThing mosaic translocation Down syndrome Translocation Down syndrome in which the extra (partial or total) copy of chromosome 21 attached to another chromosome is present in some of the cells of the organism. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class N8a6e09e006804b74a2affbc48b8d4175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0002459 biolink:NamedThing inferior palpebral vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11142 biolink:NamedThing SIK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012840 biolink:NamedThing inflammatory bowel disease 17 Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene. tmpaxzxjjyw_mondo_relaxed.owl inflammatory bowel disease 17|inflammatory bowel disease caused by mutation in IL23R|IBD17|inflammatory bowel disease type 17|IL23R inflammatory bowel disease OMIM:612261|MESH:C567378|DOID:0110883|UMLS:C2677091 owl:Class HGNC:11843 biolink:NamedThing TLL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014860 biolink:NamedThing polycystic liver disease 2 Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene. tmpaxzxjjyw_mondo_relaxed.owl polycystic liver disease 2; PCLD2|polycystic liver disease 2 with or without kidney cysts|polycystic liver disease type 2|polycystic liver disease 2|PCLD2 UMLS:C4310769|OMIM:617004 owl:Class UBERON:0007143 biolink:NamedThing right internal carotid artery tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0001887 biolink:NamedThing selenium compound metabolic process The chemical reactions and pathways involving compounds that contain selenium, such as selenocysteine. tmpaxzxjjyw_mondo_relaxed.owl selenium metabolic process|selenium compound metabolism|selenium metabolism owl:Class MONDO:0014811 biolink:NamedThing cerebellar atrophy, visual impairment, and psychomotor retardation; tmpaxzxjjyw_mondo_relaxed.owl cerebellar atrophy, visual impairment, and psychomotor retardation|CAVIPMR OMIM:616875|UMLS:C4225172 owl:Class OBO:CHR_9606-chrM biolink:NamedThing chromosome M (Human) tmpaxzxjjyw_mondo_relaxed.owl MT 16569 0 hg38 owl:Class GO:1902850 biolink:NamedThing microtubule cytoskeleton organization involved in mitosis Any microtubule cytoskeleton organization that is involved in mitosis. tmpaxzxjjyw_mondo_relaxed.owl microtubule cytoskeleton organisation involved in mitosis|microtubule cytoskeleton organization and biogenesis involved in mitosis|microtubule dynamics involved in mitosis owl:Class UBERON:0009633 biolink:NamedThing root of sacral nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011159 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 13 Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness 13|deafness, autosomal dominant 13|deafness, autosomal dominant type 13|autosomal dominant nonsyndromic deafness caused by mutation in COL11A2|autosomal dominant deafness 13|COL11A2 autosomal dominant nonsyndromic deafness|autosomal dominant nonsyndromic deafness type 13|DFNA13 UMLS:C1866095|DOID:0110545|OMIM:601868|ICD10:H90.3|MESH:C566612 owl:Class HGNC:9966 biolink:NamedThing REST tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060663 biolink:NamedThing congenital heart defects, multiple types, 5 tmpaxzxjjyw_mondo_relaxed.owl CHTD5|CONGENITAL heart defects, multiple types, 5 UMLS:CN873437|OMIM:617912 owl:Class MONDO:0013727 biolink:NamedThing pregnancy loss, recurrent, susceptibility to, 1 Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene. tmpaxzxjjyw_mondo_relaxed.owl abortion, spontaneous, recurrent|stillbirth, recurrent|embryonic loss, recurrent|pregnancy loss, recurrent, susceptibility caused by mutation in F5|F5 pregnancy loss, recurrent, susceptibility|fetal loss, recurrent, susceptibility to|pregnancy loss, recurrent, susceptibility to, 1|RPRGL1|miscarriage, recurrent|Rpl|pregnancy loss, recurrent, susceptibility to, type 1|Rprgl OMIM:614389|EFO:0008899 owl:Class UBERON:0009124 biolink:NamedThing geniculate placode tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7678 biolink:NamedThing NDP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032852 biolink:NamedThing myopathy, congenital, with structured cores and z-line abnormalities tmpaxzxjjyw_mondo_relaxed.owl MYOCOZ|MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES|Multiple Structured Core Disease OMIM:618654 owl:Class HGNC:2037 biolink:NamedThing CLDN16 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:13829 biolink:NamedThing WNT10A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009214 biolink:NamedThing Fanconi anemia complementation group D2 Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. tmpaxzxjjyw_mondo_relaxed.owl Fad2|Fanconi pancytopenia, type 4|Fanconi pancytopenia type 4|FA4|Fanconi Anemia, complementation group D|Fanconi anemia complementation group D2|FANCD2|FAD2|Fanconi anemia, complementation group D2 UMLS:C3160738|NCIT:C125706|OMIM:227646|DOID:0111083 owl:Class HP:0030222 biolink:NamedThing Visual agnosia Difficulty in recognizing objects by visual input in absence of sensorial visual impairment. tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT_US:25762009|UMLS:C0234502|MSH:D000377 human_phenotype owl:Class GO:1900132 biolink:NamedThing positive regulation of lipid binding Any process that activates or increases the frequency, rate or extent of lipid binding. tmpaxzxjjyw_mondo_relaxed.owl up-regulation of lipid binding|up regulation of lipid binding|activation of lipid binding|upregulation of lipid binding owl:Class HGNC:218 biolink:NamedThing ADAMTS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017693 biolink:NamedThing glycogen storage disease due to glycogen synthase deficiency tmpaxzxjjyw_mondo_relaxed.owl GSD0|glycogenosis due to glycogen synthase deficiency|GSD due to glycogen synthase deficiency|glycogen storage disease type 0 2022-03-01 Orphanet:308520|ICD10:E74.0|UMLS:CN203589 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: glycogen storage disease' MONDO_0002412 owl:Class MONDO:0012484 biolink:NamedThing prosopagnosia, hereditary An instance of prosopagnosia (disease) that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl prosopagnosia, congenital|developmental prosopagnosia|prosopagnosia, developmental|face blindness|congenital prosopagnosia|hereditary prosopagnosia|hereditary prosopagnosia (disease)|prosopagnosia, hereditary OMIM:610382|UMLS:C2931455|GARD:0010035 owl:Class HGNC:10592 biolink:NamedThing SCN4B tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5009 biolink:NamedThing HMGA2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018324 biolink:NamedThing adult-onset myasthenia gravis Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma. tmpaxzxjjyw_mondo_relaxed.owl adult-onset acquired myasthenia|adult-onset autoimmune myasthenia gravis ICD10:G70.0|Orphanet:391490 owl:Class HGNC:16695 biolink:NamedThing BCAP31 tmpaxzxjjyw_mondo_relaxed.owl owl:Class N9e21f4021277403d869b61def4870734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl Nad9be6e9c85149dabac2534fbf072498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON:0017659 biolink:NamedThing ventral surface of penis tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:8979 biolink:NamedThing PIK3R1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11581 biolink:NamedThing TBCD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032778 biolink:NamedThing arthrogryposis multiplex congenita 3, myogenic type tmpaxzxjjyw_mondo_relaxed.owl AMCM|arthrogryposis multiplex congenita, myogenic type OMIM:618484 owl:Class MONDO:0013868 biolink:NamedThing porokeratosis 7, multiple types tmpaxzxjjyw_mondo_relaxed.owl porokeratosis 7, disseminated superficial actinic type|porokeratosis 7, multiple types|POROK7 Orphanet:79152|OMIM:614714 owl:Class N9737578fdfc04c628c29def2a5e8b28e biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014462 biolink:NamedThing focal segmental glomerulosclerosis 8 Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene. tmpaxzxjjyw_mondo_relaxed.owl ANLN focal segmental glomerulosclerosis|focal segmental glomerulosclerosis caused by mutation in ANLN|focal segmental glomerulosclerosis 8|focal segmental glomerulosclerosis type 8|FSGS8|glomerulosclerosis, focal segmental, 8 ICD10:N04.1|UMLS:C4014993|DOID:0111133|OMIM:616032 owl:Class HGNC:10801 biolink:NamedThing SFTPB tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6944 biolink:NamedThing MCM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010945 biolink:NamedThing retinitis pigmentosa 17 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene. tmpaxzxjjyw_mondo_relaxed.owl RP17|RP 17|CA4 retinitis pigmentosa|retinitis pigmentosa type 17|retinitis pigmentosa 17|retinitis pigmentosa caused by mutation in CA4 GARD:0010387|ICD10:H35.5|UMLS:C1833245|OMIM:600852|MESH:C563437|DOID:0110404 https://rarediseases.info.nih.gov/diseases/10387/retinitis-pigmentosa-17 owl:Class MONDO:0003741 biolink:NamedThing juvenile type testicular granulosa cell tumor A rare sex cord-stromal tumor that arises from the testis. It is the most frequent congenital testicular neoplasm and is usually diagnosed during the perinatal period. It usually presents as an asymptomatic scrotal or abdominal mass. Morphologically it is characterized by the presence of cysts that are lined by cells resembling granulosa and theca cells. tmpaxzxjjyw_mondo_relaxed.owl juvenile granulosa cell tumour|juvenile type granulosa cell neoplasm|juvenile granulosa cell tumor|juvenile granulosa cell tumor (morphologic abnormality)|juvenile type granulosa cell tumor NCIT:C39947|UMLS:C1515285|DOID:6032|UMLS:C0334403 owl:Class MONDO:0012077 biolink:NamedThing amyotrophic lateral sclerosis type 8 Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VAPB gene. tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis 8|amyotrophic lateral sclerosis caused by mutation in VAPB|ALS8|VAPB amyotrophic lateral sclerosis|amyotrophic lateral sclerosis type 8 GARD:0010499|MESH:C563895|Orphanet:803|OMIM:608627|DOID:0050752 https://rarediseases.info.nih.gov/diseases/10499/amyotrophic-lateral-sclerosis-type-8 owl:Class MONDO:0010796 biolink:NamedThing Parkinson disease, mitochondrial tmpaxzxjjyw_mondo_relaxed.owl Parkinson disease, mitochondrial MESH:C564015|OMIM:556500|UMLS:C1838867 owl:Class MONDO:0014061 biolink:NamedThing Steel syndrome A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described. tmpaxzxjjyw_mondo_relaxed.owl steel syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature|STLS|bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome ICD10:Q87.5|Orphanet:438117|OMIM:615155|UMLS:C3554594 owl:Class HGNC:22986 biolink:NamedThing COL27A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:470 biolink:NamedThing AMPD3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010455 biolink:NamedThing X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is a rare combined T and B cell immunodeficiency characterized by recurrent sinopulmonary and viral infections, persistent elevated Epstein-Barr virus (EBV) viremia and increased susceptibility to EBV-associated B-cell lymphoproliferative disorders. Immunological analyses show normal lymphocyte count or mild to moderate lymphopenia, inverted CD4:CD8 T-cell ratio and hypogammaglobulinemias. tmpaxzxjjyw_mondo_relaxed.owl combined immunodeficiency due to MAGT1 deficiency|X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia|Cid due to MAGT1 deficiency|X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia|XMEN|X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia|immunodeficiency, X-linked, with magnesium defect, Epstein-Barr VIRUS infection, and neoplasia GARD:0010907|OMIM:300853|DOID:0080319|ICD10:D81.8|SCTID:711481001|Orphanet:317476|UMLS:C3275445 owl:Class HGNC:28880 biolink:NamedThing MAGT1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:68 biolink:NamedThing ABCD4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022425 biolink:NamedThing alpha-thalassemia-abnormal morphogenesis tmpaxzxjjyw_mondo_relaxed.owl Abuelo Forman Rubin syndrome|homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects GARD:0000362 https://rarediseases.info.nih.gov/diseases/362/alpha-thalassemia-abnormal-morphogenesis owl:Class MONDO:0013472 biolink:NamedThing fatal infantile hypertonic myofibrillar myopathy tmpaxzxjjyw_mondo_relaxed.owl fatal infantile hypertonic myofibrillar myopathy|alpha-B crystalin-related fatal infantile hypertonic myofibrillar myopathy|myofibrillar myopathy type 7|myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related|MFM, fatal infantile hypertonic, alpha-B crystallin-related UMLS:C3151236|OMIM:613869|Orphanet:280553|DOID:0080309|ICD10:G71.2 owl:Class HGNC:22965 biolink:NamedThing PEX26 tmpaxzxjjyw_mondo_relaxed.owl owl:Class N7f3c72b1f4f648ff91b2fc7d8b0565a4 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N5247b7397a934ccd88a2889c80c1627e biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:11411 biolink:NamedThing CDKL5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:5037 biolink:NamedThing HNRNPDL tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013512 biolink:NamedThing hemoglobin H disease Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia characterized by pronounced microcytic hypochromic hemolytic anemia. tmpaxzxjjyw_mondo_relaxed.owl Hemoglobin H disease, Nondeletional|alpha thalassemia, hemoglobin H type|HbH|hemoglobin H disease, deletional|Hemoglobin H disease, Deletional|HEMOGLOBIN H disease|Alpha-thalassemia, Hemoglobin H type|hemoglobin H disease|HbH disease|Alpha-thalassemia intermedia|alpha-thalassemia intermedia OMIM:613978|MedDRA:10063435|UMLS:C0002312|UMLS:C3161174|DOID:0110031|ICD10:D56.0|ICD9:282.49|Orphanet:93616|SCTID:48553001|NCIT:C95504 owl:Class HP:0007773 biolink:NamedThing Vitreoretinopathy Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. tmpaxzxjjyw_mondo_relaxed.owl Vitreoretinal degeneration|Vitreoretinal abnormality UMLS:C1850109 HP:0000655 human_phenotype owl:Class UBERON:0004914 biolink:NamedThing duodenal papilla tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0005225 biolink:NamedThing upper leg epithelium tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006680 biolink:NamedThing blue nevus An intradermal nevus characterized by the presence of benign pigmented dendritic spindle-shaped melanocytes. It most frequently occurs in the skin of the distal upper extremities, followed by the lower extremities, scalp, face, and buttocks. It usually presents as a single blue or blue-black papular lesion less than 1cm in diameter. Simple excision is usually curative. tmpaxzxjjyw_mondo_relaxed.owl blue neuronevus|Tièche-Jadassohn nevus|blue nevus|blue skin Nevus|blue Nevus of skin|blue Nevus of the skin|Jadassohn-Tièche nevus|Jadassohn-TiC(che nevus|Jadassohn-TiC(che syndrome|benign mesenchymal melanoma|Jadassohn-Tièche syndrome ICDO:8780/0|NCIT:C3803|MESH:D018329|MedDRA:10062788|EFO:1000841|GARD:0008452|SCTID:254806009 owl:Class HGNC:361 biolink:NamedThing AK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7713 biolink:NamedThing NDUFS6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1962 biolink:NamedThing CHRNB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018131 biolink:NamedThing neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion tmpaxzxjjyw_mondo_relaxed.owl 9q21 microdeletion syndrome|Del(9)(q21) ICD10:Q93.5|UMLS:CN204512|Orphanet:352665 owl:Class MONDO:0010860 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 3 Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 3|autosomal recessive nonsyndromic deafness caused by mutation in MYO15A|MYO15A autosomal recessive nonsyndromic deafness|DFNB3|deafness, autosomal recessive type 3|neurosensory nonsyndromic recessive deafness 3|deafness, autosomal recessive 3|autosomal recessive nonsyndromic deafness 3|NRSD3|autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3 OMIM:600316|MESH:C563961|DOID:0110488|ICD10:H90.3|UMLS:C1838263 owl:Class MONDO:0100104 biolink:NamedThing fetal akinesia deformation sequence 4 Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the NUP88 gene. tmpaxzxjjyw_mondo_relaxed.owl FADS4 DOID:0111379|OMIM:618393 owl:Class HGNC:8067 biolink:NamedThing NUP88 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043240 biolink:NamedThing hemophilic arthropathy A form of arthritis that affects hemophiliacs, which is characterized by bleeding into the joint space. tmpaxzxjjyw_mondo_relaxed.owl hemophilic arthritis|hemophilic arthropathy|arthropathy in hemophilia NCIT:C27039|GARD:0006592|UMLS:C0263725|SCTID:80813006 owl:Class UBERON:0009632 biolink:NamedThing root of cervical nerve tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3467 biolink:NamedThing ESR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005438 biolink:NamedThing metastatic malignant neoplasm in the lymph nodes The spread of a malignant neoplasm to the lymph nodes. tmpaxzxjjyw_mondo_relaxed.owl metastatic neoplasm to the lymph node|metastasis to lymph node|Metastases to lymph nodes|metastatic malignant neoplasm to the lymph nodes|metastatic tumor to lymph node NCIT:C4904|EFO:0004906|UMLS:C0686619 owl:Class CL:0000206 biolink:NamedThing chemoreceptor cell A cell specialized to detect chemical substances and relay that information centrally in the nervous system. Chemoreceptors may monitor external stimuli, as in taste and olfaction, or internal stimuli, such as the concentrations of oxygen and carbon dioxide in the blood. tmpaxzxjjyw_mondo_relaxed.owl cell owl:Class CL:0002148 biolink:NamedThing dental pulp cell A cell found within the dental pulp. tmpaxzxjjyw_mondo_relaxed.owl CALOHA:TS-0195|FMA:87170|BTO:0000339 tmeehan 2010-08-24T02:52:09Z cell owl:Class NCBITaxon:168 biolink:NamedThing Treponema pallidum subsp. pertenue tmpaxzxjjyw_mondo_relaxed.owl Treponema pallidum pertenue|yaws treponeme|Treponema pertenue GC_ID:11 ncbi_taxonomy owl:Class MONDO:0011642 biolink:NamedThing carnitine acetyltransferase deficiency A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state. tmpaxzxjjyw_mondo_relaxed.owl acetyl-carnitine deficiency|Acetyl-carnitine deficiency|carnitine acetyltransferase deficiency|CrAT UMLS:C1443228|MESH:C563249|OMIM:606175|GARD:0008602|ICD9:277.6|GTR:AN0098794|SCTID:124257002|UMLS:CN035113|GTR:AN0098795 https://rarediseases.info.nih.gov/diseases/8602/acetyl-carnitine-deficiency owl:Class UBERON:0009621 biolink:NamedThing tail somite tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043280 biolink:NamedThing Wallerian degeneration A condition caused by degeneration, atrophy, and destruction of the distal part of a nerve fiber's axon and myelin, when continuity with the neural cell nucleus has been severed due to injury. Signs and symptoms include muscle weakness, altered sensation, and limb numbness. tmpaxzxjjyw_mondo_relaxed.owl Wallerian Degeneration|Wallerian degeneration of the pyramidal tract|Degeneration, Wallerian NCIT:C85223|MESH:D014855|GARD:0007875 https://github.com/monarch-initiative/mondo/issues/2312 owl:Class MONDO:0005959 biolink:NamedThing sick building syndrome A group of symptoms that are two- to three-fold more common in those who work in large, energy-efficient buildings, associated with an increased frequency of headaches, lethargy, and dry skin. Clinical manifestations include hypersensitivity pneumonitis (alveolitis, extrinsic allergic); allergic rhinitis (rhinitis, allergic, perennial); asthma; infections, skin eruptions, and mucous membrane irritation syndromes. Current usage tends to be less restrictive with regard to the type of building and delineation of complaints. (From Segen, Dictionary of Modern Medicine, 1992) tmpaxzxjjyw_mondo_relaxed.owl DOID:2710|SCTID:19076009|MESH:D018877|UMLS:C0037050|EFO:0007484 owl:Class GO:0005585 biolink:NamedThing collagen type II trimer A collagen homotrimer of alpha1(II) chains; type II collagen triple helices associate to form fibrils. tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:1000331 biolink:NamedThing serous cell of epithelium of bronchus A serous secreting cell that is part of the epithelium of bronchus. tmpaxzxjjyw_mondo_relaxed.owl FMA:263080 cell owl:Class MONDO:0012136 biolink:NamedThing carnitine palmitoyl transferase II deficiency, neonatal form The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure. tmpaxzxjjyw_mondo_relaxed.owl Cpt2 deficiency, lethal neonatal|CPT 2 deficiency, lethal neonatal|CPTII, neonatal form|Carnitine palmitoyl transferase deficiency type 2, lethal systemic form|Carnitine palmitoyl transferase deficiency type 2, neonatal form|CPT2, lethal systemic form|Carnitine Palmitoyltransferase 2 deficiency, lethal neonatal|carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, lethal systemic form|CPTII, lethal systemic form|Carnitine Palmitoyltransferase 2 deficiency, neonatal|CPT2, neonatal form|Carnitine Palmitoyltransferase 2 deficiency, antenatal|CARNITINE PALMITOYLTRANSFERASE II deficiency, lethal neonatal OMIM:608836|Orphanet:228308|Orphanet:157|UMLS:C1833518|ICD10:E71.3|MESH:C563463 owl:Class MONDO:0011332 biolink:NamedThing Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin tmpaxzxjjyw_mondo_relaxed.owl Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin UMLS:C3807235|OMIM:603529 owl:Class FOODON:03400260 biolink:NamedThing nut or nut product (us cfr) Nuts in all forms, including nut butters and pastes. tmpaxzxjjyw_mondo_relaxed.owl http://www.langual.org/langual_thesaurus.asp?termid=A0260 http://langual.org owl:Class MONDO:0021573 biolink:NamedThing oocyte maturation defect 2 Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene. tmpaxzxjjyw_mondo_relaxed.owl TUBB8 inherited oocyte maturation defect|inherited oocyte maturation defect caused by mutation in TUBB8|oocyte maturation defect 2|OOMD2 UMLS:C4225210|OMIM:616780 owl:Class MONDO:0019129 biolink:NamedThing global developmental delay-osteopenia-ectodermal defect syndrome This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies. tmpaxzxjjyw_mondo_relaxed.owl SCTID:717813005|UMLS:CN227576|Orphanet:73223|ICD10:Q87.8 owl:Class HP:0025278 biolink:NamedThing Cold-induced sweating Sweating provoked by cold temperature rather than by heat. tmpaxzxjjyw_mondo_relaxed.owl 2016-12-18 15:16:15+00:00 HPO:probinson human_phenotype owl:Class FOODON:00001143 biolink:NamedThing fungus food product A food product consisting of an edible fungi or mushroom or yeast. tmpaxzxjjyw_mondo_relaxed.owl http://www.asmscience.org/content/journal/microbiolspec/10.1128/microbiolspec.FUNK-0030-2016 Damion Dooley owl:Class MONDO:0009806 biolink:NamedThing Bruck syndrome 1 Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene. tmpaxzxjjyw_mondo_relaxed.owl Bruck syndrome 1|BRKS1|Bruck syndrome caused by mutation in FKBP10|FKBP10 Bruck syndrome|Kuskokwim disease|Bruck syndrome type 1|arthrogryposis-like disorder GARD:0001029|UMLS:C1850168|OMIM:259450|Orphanet:2771 owl:Class MONDO:0015206 biolink:NamedThing short stature-heart defect-craniofacial anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl Rommen-Mueller-Sybert syndrome|Rommen Mueller Sybert syndrome|short stature heart defect and craniofacial anomalies ICD10:Q87.1|MESH:C535871|Orphanet:1088|GARD:0004739|UMLS:C2931050 owl:Class HGNC:18294 biolink:NamedThing ALG1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002822 biolink:NamedThing trabecular adenocarcinoma A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern. tmpaxzxjjyw_mondo_relaxed.owl trabecular adenocarcinoma (morphologic abnormality)|trabecula adenocarcinoma|trabecular carcinoma|trabecular adenocarcinoma|Merkel cell carcinoma ICDO:8332/3|NCIT:C4068|UMLS:C0302182|DOID:3965|ICDO:8190/3 owl:Class MONDO:0013610 biolink:NamedThing retinitis pigmentosa 61 Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene. tmpaxzxjjyw_mondo_relaxed.owl RP61|retinitis pigmentosa type 61|CLRN1 retinitis pigmentosa|retinitis pigmentosa caused by mutation in CLRN1|retinitis pigmentosa 61 OMIM:614180|ICD10:H35.5|UMLS:C3280041|DOID:0110373 owl:Class HGNC:23063 biolink:NamedThing NUDT15 tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0099531 biolink:NamedThing presynaptic process involved in chemical synaptic transmission The pathway leading to secretion of a neurotransmitter from the presynapse as part of synaptic transmission. tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2719 biolink:NamedThing DDC tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:21637 biolink:NamedThing SATB2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class Naa6f3816440c416787ea5bfa1a468a2d biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0012187 biolink:NamedThing Fanconi anemia complementation group J Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein. tmpaxzxjjyw_mondo_relaxed.owl Fanconi anemia, complementation group J|Fanconi anemia complementation group J|Fanconi Anemia, complementation group type J|Fanconi anemia complementation group type J|FANCJ NCIT:C129027|DOID:0111097|OMIM:609054|UMLS:C1836860|MESH:C563801 owl:Class HGNC:20249 biolink:NamedThing SPRED1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013536 biolink:NamedThing heme oxygenase 1 deficiency tmpaxzxjjyw_mondo_relaxed.owl heme oxygenase 1 deficiency|HMOX1D MESH:C564200|UMLS:C1841651|OMIM:614034|Orphanet:562509 owl:Class N5443a46c57a5429e833ed015ebc50682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HGNC:3337 biolink:NamedThing ADGRE2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCIT:C12378 biolink:NamedThing Digestive System tmpaxzxjjyw_mondo_relaxed.owl IMDRF:E10 owl:Class MONDO:0008317 biolink:NamedThing proteolytic capacity of plasma tmpaxzxjjyw_mondo_relaxed.owl proteolytic capacity of plasma OMIM:176900 owl:Class MONDO:0010273 biolink:NamedThing lymphoma, Hodgkin, X-linked pseudoautosomal tmpaxzxjjyw_mondo_relaxed.owl Hodgkin disease, X-linked Pseudoautosomal|lymphoma, Hodgkin, X-linked pseudoautosomal Orphanet:391|OMIM:300221|GARD:0009899|MESH:C538326 owl:Class MONDO:0100218 biolink:NamedThing arthrogryposis multiplex congenita 5 tmpaxzxjjyw_mondo_relaxed.owl AMC5|ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 OMIM:618947 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0032826 biolink:NamedThing nephrotic syndrome, type 21 tmpaxzxjjyw_mondo_relaxed.owl NEPHROTIC SYNDROME, TYPE 21|NPHS21 OMIM:618594 owl:Class MONDO:0007155 biolink:NamedThing arteritis, familial granulomatous, with juvenile polyarthritis tmpaxzxjjyw_mondo_relaxed.owl arteritis, familial granulomatous, with juvenile polyarthritis OMIM:108050|UMLS:C1862510|MESH:C566253 owl:Class SO:0001504 biolink:NamedThing assortment_derived_variation A chromosome variation derived from an event during meiosis. tmpaxzxjjyw_mondo_relaxed.owl assortment derived variation owl:Class MONDO:0017467 biolink:NamedThing tibio-fibular synostosis Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee. tmpaxzxjjyw_mondo_relaxed.owl Tibio-fibular fusion SCTID:737581000|Orphanet:295028|ICD10:Q74.2 owl:Class MONDO:0041656 biolink:NamedThing ST-elevation myocardial infarction A very serious type of heart attack during which one of the heart’s major arteries (one of the arteries that supplies oxygen and nutrient-rich blood to the heart muscle) is blocked. ST-segment elevation is an abnormality detected on the 12-lead ECG. tmpaxzxjjyw_mondo_relaxed.owl acute-ST segment elevation myocardial infarction|STEMI|ST segment elevation myocardial infarction EFO:0008585|SCTID:401303003 owl:Class MONDO:0032744 biolink:NamedThing spermatogenic failure 37 tmpaxzxjjyw_mondo_relaxed.owl SPGF37|SPERMATOGENIC FAILURE 37 OMIM:618429 owl:Class MONDO:0016031 biolink:NamedThing facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl Friedman-Goodman syndrome|facial features (unique), anorexia, cachexia, eye and skin anomalies|faces syndrome Orphanet:1969|MESH:C536384|GARD:0002221|ICD10:Q87.0|UMLS:C2931183 owl:Class MONDO:0013180 biolink:NamedThing asthma-related traits, susceptibility to, 8 tmpaxzxjjyw_mondo_relaxed.owl Rhinoconjunctivitis, susceptibility to|asthma-RELATED traits, susceptibility to, 8|asthma-related traits, susceptibility to, 8|ASRT8 OMIM:613207 owl:Class MONDO:0100470 biolink:NamedThing reactive airway disease Coughing, wheezing, or shortness of breath that is triggered by allergens, infection, or other irritants. tmpaxzxjjyw_mondo_relaxed.owl hyperactive airway disease|reactive airway disease (AQ) NCIT:C113673|SCITD:991000119106 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0009967 biolink:NamedThing renal tubular acidosis 3 tmpaxzxjjyw_mondo_relaxed.owl RTA, dislocation type|RTA, bicarbonate-wasting type|bicarbonate-wasting RTA|renal tubular acidosis, distal, type 3|renal tubular acidosis type 3|renal tubular acidosis III GARD:0004670|MESH:C537759|Orphanet:2785|OMIM:267200 owl:Class MONDO:0011140 biolink:NamedThing benign familial neonatal-infantile seizures Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl convulsions benign familial neonatal|benign neonatal-infantile epilepsy|seizures, benign familial infantile, 1|BFIS1|BFNIS|benign familial infantile convulsions|epilepsy, benign neonatal-infantile|convulsions, benign familial infantile, 1|benign familial neonatal-infantile seizures 2022-03-01 Orphanet:306|MedDRA:10067866|GARD:0001518|ICD10:G40.4|Orphanet:140927|OMIM:607745 Reason: duplicate. This will be merged with MONDO:0011904 owl:Class MONDO:0024569 biolink:NamedThing optic atrophy 8 tmpaxzxjjyw_mondo_relaxed.owl OPA8|optic atrophy 8 OMIM:616648|DOID:0111439|Orphanet:1215|UMLS:C4085249 owl:Class MONDO:0700006 biolink:NamedThing non-idiopathic A disease characteristic in which the disease has a known cause. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-4142-7153 owl:Class MONDO:0007133 biolink:NamedThing anonychia-onychodystrophy with brachydactyly type b and ectrodactyly tmpaxzxjjyw_mondo_relaxed.owl anonychia-onychodystrophy with brachydactyly type b and ectrodactyly|Kumar-Levick syndrome|autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly GARD:0000711|UMLS:C1862842|OMIM:106990|Orphanet:2355|MESH:C536379 https://rarediseases.info.nih.gov/diseases/711/anonychia-onychodystrophy-with-brachydactyly-type-b-and-ectrodactyly owl:Class MONDO:0001665 biolink:NamedThing oculoglandular tularemia A tularemia that results in inflammation of eye and swelling of lymph glands in front of the ear. tmpaxzxjjyw_mondo_relaxed.owl ICD10:A21.1|ICD9:021.3|UMLS:C0152944|SCTID:73363000|DOID:13226 owl:Class MONDO:0019560 biolink:NamedThing lupus erythematosus tumidus Tumid erythematosus lupus is considered a rare type of chronic cutaneous lupus erythematosus. Cutaneous lupus erythematosus (CLE) can be divided into acute cutaneous lupus, subacute cutaneous lupus, and chronic cutaneous lupus. Tumid erythematosus lupus is characterized by smooth, non-scarring, pink- to violet-colored pimples (papules)on the skin without any other apparent skin changes, such as scarring. Patients with tumid lupus erythematosus usually do not have other symptoms of systemic lupus erythematosus or other types of cutaneous lupus erythematosus. The papules appear on sun-exposed areas of the face, upper back, V area of the neck, trunk, and arms, and more rarely on thighs and legs. They usually affect equally both sides of the body, but may affect only one side. Normally, the papules clear without leaving scars. The treatment is very effective in most cases, and may include sun protection, anti-malarials drugs, local corticosteroids, topical tacrolimus and light therapy. tmpaxzxjjyw_mondo_relaxed.owl let|intermittent cutaneous lupus|tumid lupus erythematosus UMLS:C0406636|SCTID:200941006|ICD10:L93.2|NCIT:C117112|GARD:0013003|Orphanet:90283 https://rarediseases.info.nih.gov/diseases/13003/lupus-erythematosus-tumidus owl:Class MONDO:0004145 biolink:NamedThing meningothelial meningioma A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present. tmpaxzxjjyw_mondo_relaxed.owl meningothelial meningioma (morphologic abnormality)|Meningotheliomatous meningioma ICDO:9531/0|UMLS:C0334605|EFO:1000372|MESH:D008579|DOID:7212|NCIT:C4329 owl:Class MONDO:0010054 biolink:NamedThing spinal muscular atrophy with intellectual disability tmpaxzxjjyw_mondo_relaxed.owl spinal muscular atrophy with intellectual disability|spinal muscular atrophy with mental retardation MESH:C564807|OMIM:271109|UMLS:C1849109 owl:Class MONDO:0006593 biolink:NamedThing pelvic lipomatosis A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males. tmpaxzxjjyw_mondo_relaxed.owl pelvic lipomatosis|Excess of mature unencapsulated fatty tissue in the pelvis|pelvic lipomatosis (morphologic abnormality) UMLS:C0406608|EFO:1000748|NCIT:C27486|MESH:C535549|GARD:0007350|DOID:3927 https://rarediseases.info.nih.gov/diseases/7350/pelvic-lipomatosis owl:Class MONDO:0032896 biolink:NamedThing spermatogenic failure 42 tmpaxzxjjyw_mondo_relaxed.owl SPERMATOGENIC FAILURE 42|SPGF42 OMIM:618745 owl:Class MONDO:0014239 biolink:NamedThing testicular anomalies with or without congenital heart disease tmpaxzxjjyw_mondo_relaxed.owl TACHD|testicular anomalies with or without congenital heart disease Orphanet:251510|UMLS:C3809858|OMIM:615542 owl:Class MONDO:0006694 biolink:NamedThing cerebral atherosclerosis Atherosclerosis of the cerebral vasculature. tmpaxzxjjyw_mondo_relaxed.owl cerebral atherosclerosis DOID:12720|EFO:1000860|ICD10:I67.2|NCIT:C34459|ICD9:437.0|MedDRA:1008095|UMLS:C0007775|SCTID:55382008 owl:Class MONDO:0017839 biolink:NamedThing classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency. tmpaxzxjjyw_mondo_relaxed.owl classic 21-OHD CAH, salt wasting form Orphanet:315306|ICD10:E25.0 owl:Class FOODON:00003194 biolink:NamedThing vegetarian food product A food product not including meat and animal tissue products (such as gelatin or animal-derived rennet). tmpaxzxjjyw_mondo_relaxed.owl vegetarian food 2019-09-11 21:12:43+00:00 https://en.wikipedia.org/wiki/Vegetarian_cuisine owl:Class MONDO:0017193 biolink:NamedThing symptomatic form of Coffin-Lowry syndrome in female carriers tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202633|Orphanet:276630|ICD10:Q87.0 owl:Class MONDO:0001687 biolink:NamedThing diabetic cataract tmpaxzxjjyw_mondo_relaxed.owl cataract - diabetic UMLS:C0011876|DOID:13328|SCTID:43959009|ICD9:366.41|ICD10:H28.0 owl:Class MONDO:0030035 biolink:NamedThing leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome tmpaxzxjjyw_mondo_relaxed.owl Leuden Syndrome|leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome|LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME|LEUDEN OMIM:618877 owl:Class MONDO:0012363 biolink:NamedThing retinitis pigmentosa 32 A retinitis pigmentosa that has material basis in variation in the chromosome region 1p21.3-p13.3. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 32|RP32|retinitis pigmentosa type 32 GARD:0010395|UMLS:C1835927|DOID:0110355|OMIM:609913|MESH:C563689|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/10395/retinitis-pigmentosa-32 owl:Class MONDO:0014663 biolink:NamedThing Silver-Russell syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl GRDF|growth restriction, severe, with distinctive facies|SRS3 OMIM:616489|UMLS:C4225307 owl:Class MONDO:0018435 biolink:NamedThing acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported. tmpaxzxjjyw_mondo_relaxed.owl AML with inv3(p21;q26.2) or t(3;3)(p21;q26.2)|acute myeloid leukemia with inv3(q21;q26.2) or t(3;3)(q21;q26.2)|AML with inv3(q21;q26.2) or t(3;3)(q21;q26.2) ICD10:C92.0|Orphanet:402020|GARD:0012759 https://rarediseases.info.nih.gov/diseases/12759/acute-myeloid-leukemia-with-inv3p21q262-or-t33p21q262 owl:Class HGNC:6463 biolink:NamedThing KRT86 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6126 biolink:NamedThing IRS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:6493 biolink:NamedThing LAMC2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class NCBITaxon:15957 biolink:NamedThing Phleum pratense tmpaxzxjjyw_mondo_relaxed.owl timothy grass|timothy GC_ID:1 ncbi_taxonomy owl:Class MONDO:0032761 biolink:NamedThing hearing loss, autosomal recessive 114 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 114|DFNB114 DOID:0111642|OMIM:618456 owl:Class MONDO:0013020 biolink:NamedThing narcolepsy 5, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl narcolepsy 5, susceptibility to|NRCLP5 OMIM:612851|Orphanet:2073|UMLS:C2748508 owl:Class MONDO:0006777 biolink:NamedThing hairy tongue A benign condition affecting the dorsum of the tongue. It is characterized by defective desquamation resulting in elongation of the filiform papillae. The dorsum of the tongue has a furry appearance and is usually stained black. tmpaxzxjjyw_mondo_relaxed.owl hairy Tongues|hairy tongue|Tongues, hairy|overgrowth of filiform papillae SCTID:255225007|MESH:D014064|UMLS:C0040414|DOID:13500|EFO:1000957|MedDRA:10043960|ICD9:529.8|NCIT:C35075 owl:Class HGNC:11025 biolink:NamedThing SLC3A1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0600030 biolink:NamedThing B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults. tmpaxzxjjyw_mondo_relaxed.owl B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)|B-lymphoblastic leukemia/lymphoma with TCF3-PBX1|B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) (morphologic abnormality)|B-acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)|B acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) Orphanet:585956|DOID:0080649|SCTID:450956008|NCIT:C80347|ICD-10:C91.0 http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0032599 biolink:NamedThing immunodeficiency 15a tmpaxzxjjyw_mondo_relaxed.owl IMD15A|IMMUNODEFICIENCY 15A OMIM:618204 owl:Class MONDO:0004129 biolink:NamedThing cloacogenic carcinoma An anal carcinoma arising from the transitional zone of the anal canal. tmpaxzxjjyw_mondo_relaxed.owl cloacogenic carcinoma of anus|cloacogenic anal carcinoma|cloacogenic carcinoma of the anus|anal cloacogenic carcinoma|anal canal cloacogenic cancer|anal canal cloacogenic carcinoma|cloacogenic carcinoma (morphologic abnormality) NCIT:C8255|ICDO:8124/3|DOID:7173|MESH:C563020 owl:Class BFO:0000027 biolink:NamedThing object aggregate tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013073 biolink:NamedThing palmoplantar keratoderma, nonepidermolytic, focal 1 Any nonepidermolytic palmoplantar keratoderma in which the cause of the disease is a mutation in the KRT16 gene. tmpaxzxjjyw_mondo_relaxed.owl Ppkfne|palmoplantar keratoderma, nonepidermolytic, focal type 1|KRT16 nonepidermolytic palmoplantar keratoderma|focal nonepidermolytic palmoplantar keratoderma|palmoplantar keratoderma, nonepidermolytic, focal 1|nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16|keratoderma, focal nonepidermolytic palmoplantar|FNEPPK1 OMIM:613000|DOID:0111709 https://github.com/monarch-initiative/mondo/issues/3108 owl:Class MONDO:0019167 biolink:NamedThing immunoglobulin a vasculitis SchC6nlein-Henoch purpura (SHP) is a systemic IgA vasculitis that affects small vessels. It is characterized by skin purpura, arthritis, and abdominal and/or renal involvement. tmpaxzxjjyw_mondo_relaxed.owl Henoch-SchC6nlein purpura|rheumatoid purpura|purpura, Schonlein-Henoch|purpura rheumatica|IgA vasculitis|anaphylactoid purpura|Henoch Schonlein purpura|vascular purpura Orphanet:761|SCTID:86074002|ICD10:D69.0|GARD:0008204 owl:Class MONDO:0007461 biolink:NamedThing short stature-valvular heart disease-characteristic facies syndrome Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait. tmpaxzxjjyw_mondo_relaxed.owl disproportionate short stature with ptosis and valvular heart lesions ICD10:Q87.1|OMIM:126190|Orphanet:2868|MESH:C565094|UMLS:C1852073 owl:Class MONDO:0008794 biolink:NamedThing anhidrosis, familial generalized, with abnormal or absent sweat glands tmpaxzxjjyw_mondo_relaxed.owl anhidrosis, familial generalized, with abnormal or absent sweat glands UMLS:C4225670|OMIM:206600 owl:Class MONDO:0042960 biolink:NamedThing Sackey-Sakati-Aur syndrome tmpaxzxjjyw_mondo_relaxed.owl Sackey Sakati Aur syndrome|Aur syndrome|multiple dysmorphic features and pancytopenia|pancytopenia multiple congenital anomalies MESH:C537219|GARD:0000315|UMLS:C2931442 owl:Class MONDO:0003231 biolink:NamedThing acute nonparalytic poliomyelitis A poliomyelitis that does not exhibit paralysis. tmpaxzxjjyw_mondo_relaxed.owl non-paralytic aseptic meningitis|acute nonparalytic poliomyelitis|nonparalytic poliomyelitis ICD9:045.22|UMLS:C0152998|ICD9:045.20|DOID:4986|ICD10:A80.4|SCTID:14535005|ICD9:045.23|ICD9:045.2 owl:Class MONDO:0011523 biolink:NamedThing Bardet-Biedl syndrome 6 tmpaxzxjjyw_mondo_relaxed.owl BBS6|Bardet-Biedl syndrome type 6|Bardet-Biedl syndrome 6 Orphanet:110|GARD:0010205|OMIM:605231|ICD10:Q87.89|OMIM:209900|MESH:C565738|UMLS:C1858054|DOID:0110128 https://rarediseases.info.nih.gov/diseases/10205/bardet-biedl-syndrome-6 owl:Class MONDO:0012722 biolink:NamedThing Dauwerse-Peters syndrome tmpaxzxjjyw_mondo_relaxed.owl short stature, Facial Dysmorphism, Severe brachydactyly, and syndactyly|short stature, facial dysmorphism, severe brachydactyly and syndactyly|Dauwerse-Peters syndrome UMLS:C2673203|GARD:0010568|MESH:C567093|OMIM:611733 https://rarediseases.info.nih.gov/diseases/10568/dauwerse-peters-syndrome owl:Class MONDO:0043154 biolink:NamedThing neonatal ovarian cyst tmpaxzxjjyw_mondo_relaxed.owl fetal ovarian cyst GARD:0003934|MESH:C536396|UMLS:C2931186 owl:Class MONDO:0022839 biolink:NamedThing congenital human immunodeficiency virus tmpaxzxjjyw_mondo_relaxed.owl congenital HIV|neonatal human immunodeficiency virus|neonatal HIV GARD:0010328|UMLS:C0520783 https://rarediseases.info.nih.gov/diseases/10328/congenital-human-immunodeficiency-virus owl:Class MONDO:0030268 biolink:NamedThing developmental and epileptic encephalopathy 6B tmpaxzxjjyw_mondo_relaxed.owl DEE6B|developmental and epileptic encephalopathy 6B OMIM:619317 owl:Class MONDO:0018473 biolink:NamedThing hyperlipoproteinemia type 3 Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease. tmpaxzxjjyw_mondo_relaxed.owl low density lipoprotein cholesterol level quantitative trait locus 5|carbohydrate induced hyperlipemia|familial hypercholesterolemia with hyperlipemia|familial Hyperbeta- and Prebetalipoproteinemia|hyperlipoproteinemia, type III|familial hyperlipoproteinemia type 3|Broad-betalipoproteinemia|hyperlipidemia type 3|hyperlipemia with Familial Hypercholesterolemic xanthomatosis|familial dysbetalipoproteinemia|dysbetalipoproteinemia due to defect in apolipoprotein E-D|familial type 3 hyperlipoproteinemia|remnant disease|familial hypercholesterolaemia with hyperlipaemia|remnant hyperlipidemia|floating-betalipoproteinemia|coronary artery disease, Severe, Susceptibility to|dyslipidemia type 3|HLP type 3|dysbetalipoproteinemia|apolipoprotein E, deficiency or defect of|Broad beta disease|remnant removal disease|hyperlipoproteinemia type III ICD10:E78.2|SCTID:398796005|OMIM:617347|NCIT:C34710|Orphanet:412|UMLS:C1862561|MedDRA:10060751|GARD:0006703|UMLS:C0020479|DOID:3145 owl:Class MONDO:0030302 biolink:NamedThing immunodeficiency 81 tmpaxzxjjyw_mondo_relaxed.owl IMD81|immunodeficiency 81 OMIM:619374 owl:Class MONDO:0030903 biolink:NamedThing Hermansky-Pudlak syndrome 11 tmpaxzxjjyw_mondo_relaxed.owl HPS11|Hermansky-Pudlak syndrome OMIM:619172 owl:Class MONDO:0011691 biolink:NamedThing amyotrophic lateral sclerosis type 3 tmpaxzxjjyw_mondo_relaxed.owl ALS3|amyotrophic lateral sclerosis 3 OMIM:606640|DOID:0060195|GARD:0010501|Orphanet:803|MESH:C564688 https://rarediseases.info.nih.gov/diseases/10501/amyotrophic-lateral-sclerosis-type-3 owl:Class MONDO:0011360 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 14 An autosomal recessive nonsyndromic deafness that has material basis in variation between D7S554 and D7S2459 in the chromosome region 7q31. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 14|autosomal recessive nonsyndromic deafness 14|DFNB14|deafness, autosomal recessive 14|autosomal recessive deafness 14 UMLS:C1863613|OMIM:603678|MESH:C566344|ICD10:H90.3|DOID:0110469 owl:Class MONDO:0015290 biolink:NamedThing neurotrophic keratopathy Neurotrophic keratopathy is a rare degenerative disease of the cornea characterized by reduction or loss of corneal sensitivity that can be asymptomatic or present with red-eye and, during the early stages of the disease, a minor decrease in visual acuity. It eventually leads to loss of vision. tmpaxzxjjyw_mondo_relaxed.owl neurotrophic keratitis Orphanet:137596|UMLS:C0339296|SCTID:128080005|MedDRA:10069732|ICD10:H16.2 owl:Class MONDO:0030335 biolink:NamedThing diarrhea 12, with microvillus atrophy tmpaxzxjjyw_mondo_relaxed.owl DIAR12|diarrhea 12, with microvillus atrophy|microvillus inclusion disease 2 OMIM:619445 owl:Class MONDO:0004861 biolink:NamedThing ophthalmia nodosa tmpaxzxjjyw_mondo_relaxed.owl ICD10:H16.24|DOID:9722|UMLS:C0154775|SCTID:12371008|ICD9:360.14 owl:Class MONDO:0008831 biolink:NamedThing asphyxiating thoracic dystrophy 1 An asphyxiating thoracic dystrophy associated with variation in the region 15q13. tmpaxzxjjyw_mondo_relaxed.owl Jeune syndrome|thoracic-pelvic-phalangeal dystrophy|short-rib thoracic dysplasia 1 with or without polydactyly|SRTD1|ATD1|asphyxiating thoracic dystrophy 1|asphyxiating thoracic dystrophy type 1 Orphanet:474|ICD10:Q77.2|OMIM:208500|UMLS:C0265275|UMLS:CN119532|DOID:0110085 owl:Class MONDO:0018056 biolink:NamedThing bullous lichen planus Bullous lichen planus is a variant of rare lichen planus characterized by the development of vesico-bullous lesions. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023648|NCIT:C34778|MedDRA:10056960|SCTID:6111009|Orphanet:33408|ICD10:L43.1 owl:Class MONDO:0007868 biolink:NamedThing hyperekplexia 1 A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. tmpaxzxjjyw_mondo_relaxed.owl startle disease, familial|hyperekplexia, hereditary type 1|Sthe|hyperekplexia type 1|Kok disease|Stiff-Man syndrome, congenital|exaggerated startle reaction|hyperekplexia, hereditary 1|Stiff-Person syndrome, congenital|Stiff-baby syndrome|HKPX1|startle reaction, exaggerated|hyperekplexia 1 Orphanet:3197|ICD10:G25.8|OMIM:149400|DOID:0060696 owl:Class MONDO:0030973 biolink:NamedThing immunodeficiency 77 tmpaxzxjjyw_mondo_relaxed.owl IMD77|immunodeficiency 77 OMIM:619223 owl:Class MONDO:0010756 biolink:NamedThing Von Willebrand disease, X-linked form tmpaxzxjjyw_mondo_relaxed.owl Von Willebrand disease, X-linked form|Von Willebrand disease, X-linked Orphanet:903|MESH:C564041|UMLS:C1839113|OMIM:314560 owl:Class MONDO:0030354 biolink:NamedThing facioscapulohumeral muscular dystrophy 3, digenic tmpaxzxjjyw_mondo_relaxed.owl FSHD3|facioscapulohumeral muscular dystrophy 3, digenic OMIM:619477 owl:Class MONDO:0022893 biolink:NamedThing craniosynostosis arthrogryposis cleft palate tmpaxzxjjyw_mondo_relaxed.owl GARD:0001587 https://rarediseases.info.nih.gov/diseases/1587/craniosynostosis-arthrogryposis-cleft-palate owl:Class MONDO:0024466 biolink:NamedThing facial paresis, hereditary congenital, 1 tmpaxzxjjyw_mondo_relaxed.owl Mobius syndrome 2|facial paresis, hereditary congenital, 1|Moebius syndrome 2, formerly|Moebius syndrome 2|facial palsy, congenital, unilateral or bilateral|Mobius syndrome 2, formerly|HCFP1 UMLS:C1832284|Orphanet:306527|OMIM:601471 owl:Class MONDO:0011970 biolink:NamedThing rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome tmpaxzxjjyw_mondo_relaxed.owl Re-ped-Wc|EPRPDC|epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp OMIM:608105|UMLS:C1842531|MESH:C535499|DOID:0111645|Orphanet:163727 owl:Class MONDO:0013852 biolink:NamedThing hypertrophic cardiomyopathy 21 A hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation. tmpaxzxjjyw_mondo_relaxed.owl cardiomyopathy familial hypertrophic 21|cardiomyopathy, familial hypertrophic, 21|hypertrophic cardiomyopathy type 21|CMH21 DOID:0110311|UMLS:C3553442|OMIM:614676 owl:Class MONDO:0007121 biolink:NamedThing aniridia, microcornea, and spontaneously Reabsorbed cataract tmpaxzxjjyw_mondo_relaxed.owl aniridia, microcornea, and spontaneously Reabsorbed cataract UMLS:C1862867|MESH:C566280|OMIM:106230 owl:Class MONDO:0010247 biolink:NamedThing X-linked cerebral adrenoleukodystrophy A peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency. tmpaxzxjjyw_mondo_relaxed.owl Addison disease and cerebral sclerosis|adrenoleukodystrophy childhood cerebral form|melanodermic leukodystrophy|ALD|childhood cerebral ALD|bronze Schilder disease|childhood-onset cerebral X-linked adrenoleukodystrophy|ALD childhood cerebral form|X-linked cerebral adrenoleukodystrophy|adrenomyeloneuropathy|adrenoleukodystrophy|Siemerling-Creutzfeldt disease|adrenoleukodystrophy X-linked cerebral form Orphanet:43|OMIM:300100|UMLS:CN036464|Orphanet:139399|GARD:0009412|UMLS:CN199389|Orphanet:139396|ICD10:E71.3 https://rarediseases.info.nih.gov/diseases/9412/childhood-onset-cerebral-x-linked-adrenoleukodystrophy owl:Class MONDO:0008841 biolink:NamedThing ataxia-telangiectasia with generalized skin pigmentation and early death tmpaxzxjjyw_mondo_relaxed.owl ataxia-telangiectasia with generalized skin pigmentation and early death UMLS:C1859615|OMIM:208910|Orphanet:100|MESH:C565930 owl:Class HGNC:18233 biolink:NamedThing BANK1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:2291 biolink:NamedThing COX7B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004319 biolink:NamedThing hypercalcemic type ovarian small cell carcinoma An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers. tmpaxzxjjyw_mondo_relaxed.owl SCCOHT|ovarian small cell carcinoma, hypercalcemic type UMLS:C1518736|DOID:7651|NCIT:C40439 owl:Class MONDO:0005224 biolink:NamedThing acute myeloblastic leukemia without maturation An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl M1 acute granulocytic leukemia without maturation|M1 acute myelogenous leukemia|M1 acute myeloid leukemia without maturation|acute myeloblastic leukemia M1|FAB M1|M1 acute myelocytic leukemia without maturation|AWM|acute myeloid leukemia without maturation|acute granulocytic leukemia without maturation|M1 acute myeloblastic leukemia|M1 acute myeloblastic leukemia without maturation|M1 acute granulocytic leukemia|M1 acute myeloid leukemia|acute myeloblastic leukemia type 1|M1 acute myelocytic leukemia|acute myelocytic leukemia without maturation|acute myeloid leukemia without maturation (FAB M1)|M1 acute myelogenous leukemia without maturation|AML without maturation|AML M1|acute M1 myeloid leukemia|acute myelogenous leukemia without maturation EFO:0003027|ICD10:C92.0|SCTID:359640008|GARD:0000526|ONCOTREE:AWM|Orphanet:98833|ICDO:9873/3|NCIT:C3249 https://rarediseases.info.nih.gov/diseases/526/acute-myeloblastic-leukemia-without-maturation owl:Class MONDO:0018022 biolink:NamedThing hemoglobin Lepore-beta-thalassemia syndrome tmpaxzxjjyw_mondo_relaxed.owl Lepore-beta-thalassemia syndrome|HbLepore-beta-thalassemia syndrome Orphanet:330032|UMLS:CN227251|ICD10:D56.8 owl:Class CL:1000271 biolink:NamedThing lung ciliated cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017244 biolink:NamedThing pseudoxanthomatous diffuse cutaneous mastocytosis Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering. tmpaxzxjjyw_mondo_relaxed.owl infiltrative small vesicular diffuse cutaneous mastocytosis|Pseudoxanthomatous DCM|infiltrative small vesicular DCM Orphanet:280794|ICD10:Q82.2 owl:Class MONDO:0022779 biolink:NamedThing cleft lip palate oligodontia syndactyly pili torti tmpaxzxjjyw_mondo_relaxed.owl GARD:0001381 https://rarediseases.info.nih.gov/diseases/1381/cleft-lip-palate-oligodontia-syndactyly-pili-torti owl:Class HGNC:3153 biolink:NamedThing ECM1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012380 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 53 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 14q11.2-q12. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant nonsyndromic deafness type 53|deafness, autosomal dominant 53|deafness, autosomal dominant nonsyndromic sensorineural 53|autosomal dominant nonsyndromic deafness 53|DFNA53|autosomal dominant deafness 53 DOID:0110579|OMIM:609965|GARD:0009934|ICD10:H90.3|MESH:C566495|UMLS:C1864957 owl:Class FOODON:03412345 biolink:NamedThing lichen A composite organism that arises from algae or cyanobacteria living among filaments of multiple fungi species in a mutualistic relationship. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009886 biolink:NamedThing pleoconial myopathy with salt craving tmpaxzxjjyw_mondo_relaxed.owl pleoconial myopathy with salt craving UMLS:C1849773|MESH:C564883|GARD:0010318|OMIM:262900 https://rarediseases.info.nih.gov/diseases/10318/pleoconial-myopathy-with-salt-craving owl:Class MONDO:0013214 biolink:NamedThing bile acid malabsorption, primary tmpaxzxjjyw_mondo_relaxed.owl bile acid malabsorption, primary|PBAM UMLS:C2750087|MESH:C567652|Orphanet:449262|OMIM:613291 owl:Class MONDO:0003487 biolink:NamedThing pseudoglandular squamous cell carcinoma A squamous cell carcinoma characterized by the formation of gland-like structures. tmpaxzxjjyw_mondo_relaxed.owl pseudoglandular epidermoid carcinoma|adenocarcinoma with squamous metaplasia (morphologic abnormality)|adenoid squamous carcinoma|pseudoglandular squamous cell carcinoma|adenoacanthoma|pharyngeal tonsil squamous cell carcinoma|adenocarcinoma with squamous metaplasia|acantholytic squamous cell carcinoma|pseudoglandular squamous carcinoma|pseudoglandular epidermoid cell carcinoma|adenoid squamous cell carcinoma|adenoid squamous cell carcinoma (morphologic abnormality) NCIT:C4106|SCTID:403901001|DOID:5524|UMLS:C0334393|ICDO:8075/3|UMLS:C0334250 owl:Class MONDO:0008868 biolink:NamedThing biliary malformation with renal tubular insufficiency tmpaxzxjjyw_mondo_relaxed.owl biliary malformation with renal tubular insufficiency|cholestatic jaundice and renal tubular insufficiency MESH:C537726|OMIM:210550|UMLS:C0400972|SCTID:235914003 owl:Class UBERON:0001592 biolink:NamedThing bronchial vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007996 biolink:NamedThing microphthalmia, isolated, with corectopia tmpaxzxjjyw_mondo_relaxed.owl microphthalmia and corectopia|microphthalmia with myopia and corectopia|MCOPCR|microphthalmia, isolated, with corectopia OMIM:156900|UMLS:C1834918|MESH:C563581 owl:Class MONDO:0008482 biolink:NamedThing Sprengel deformity tmpaxzxjjyw_mondo_relaxed.owl Sprengel deformity|congenital upward displacement of the scapula|Sprengel's shoulder|high scapula|Sprengel's deformity|Sprengel deformity (disease)|congenital elevation of the scapula Sprengel deformity (disease) ICD10:Q74.0|HP:0000912|SCTID:79120002|GARD:0007693|MedDRA:10010455|OMIM:184400|Orphanet:3181|MESH:C535802 owl:Class MONDO:0001181 biolink:NamedThing secondary corneal edema tmpaxzxjjyw_mondo_relaxed.owl DOID:11032|UMLS:C0155110|ICD10:H18.23|SCTID:27536004|ICD9:371.22 owl:Class MONDO:0003768 biolink:NamedThing signet ring cell variant cervical mucinous adenocarcinoma A rare cervical mucinous adenocarcinoma characterized by the presence of signet ring cells. tmpaxzxjjyw_mondo_relaxed.owl signet ring mucinous carcinoma|cervical mucinous adenocarcinoma, signet Ring cell type|cervical mucinous adenocarcinoma, signet Ring cell variant ONCOTREE:SCEMU|NCIT:C40205|DOID:6101|UMLS:C1516424 owl:Class MONDO:0017382 biolink:NamedThing familial clubfoot due to 5q31 microdeletion tmpaxzxjjyw_mondo_relaxed.owl hereditary clubfoot due to 5q31 microdeletion UMLS:CN203109|ICD10:Q66.8|Orphanet:293144|OMIM:119800 owl:Class MONDO:0015794 biolink:NamedThing antenatal multiminicore disease with arthrogryposis multiplex congenita tmpaxzxjjyw_mondo_relaxed.owl multiminicore myopathy, antenatal onset, with arthrogryposis|multicore myopathy, antenatal onset, with arthrogryposis ICD10:G71.2|UMLS:C1843691|Orphanet:178148|GARD:0009129 owl:Class MONDO:0001098 biolink:NamedThing separation anxiety disorder An anxiety disorder characterized by recurrent excessive distress due to fear of separation from the home or from major attachment figures; the distress is developmentally inappropriate and causes impairment in social, academic, or other areas of functioning. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35014|MESH:D001010|SCTID:11806006|EFO:1001916|DOID:10685 owl:Class MONDO:0000910 biolink:NamedThing retinitis pigmentosa 6 A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa 6|retinitis pigmentosa type 6|RP6|retinitis pigmentosa, X-linked recessive, 6|RP 6 ICD10:H35.5|UMLS:C1839368|MESH:C564065|GARD:0010377|OMIM:312612|DOID:0110413 https://rarediseases.info.nih.gov/diseases/10377/retinitis-pigmentosa-6 owl:Class MONDO:0009260 biolink:NamedThing GM1 gangliosidosis type 1 GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis with variable neurological and systemic manifestations. tmpaxzxjjyw_mondo_relaxed.owl gangliosidosis, generalized GM1, type 1|gangliosidosis, generalized GM1, infantile form|GM1-gangliosidosis, type I, with Cardiac involvement|Beta-galactosidase-1 deficiency|gangliosidosis generalized GM1 type 1|Beta galactosidase deficiency type 1|GM1-gangliosidosis, type I|GM1-gangliosidosis, type 1|infantile GM1 gangliosidosis|Glb1 deficiency|gangliosidosis generalized GM1 infantile form|gangliosidosis, generalized GM1, type I, with Cardiac involvement|GLB deficiency type 1|Norman-Landing disease OMIM:230500|DOID:0080502|Orphanet:79255|ICD10:E75.1|GARD:0006479|SCTID:238026007|Orphanet:354|UMLS:C0085131 MONDO:0023211 https://rarediseases.info.nih.gov/diseases/6479/gm1-gangliosidosis-type-1 owl:Class MONDO:0001765 biolink:NamedThing polyneuropathy in collagen vascular disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154759|ICD9:357.1|ICD9:357.4|SCTID:193177003|DOID:13649 owl:Class HP:0000112 biolink:NamedThing Nephropathy A nonspecific term referring to disease or damage of the kidneys. tmpaxzxjjyw_mondo_relaxed.owl Kidney disease|Kidney damage UMLS:C1408258|UMLS:C0022658|SNOMEDCT_US:90708001|MSH:D007674 human_phenotype owl:Class MONDO:0010954 biolink:NamedThing Wiskott-Aldrich syndrome, autosomal dominant form tmpaxzxjjyw_mondo_relaxed.owl Wiskott-Aldrich syndrome, autosomal dominant form UMLS:C1833170|Orphanet:906|MESH:C563431|OMIM:600903 owl:Class MONDO:0029137 biolink:NamedThing hearing loss, autosomal dominant 74 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant 74|DFNA74 OMIM:618140 owl:Class MONDO:0043230 biolink:NamedThing ciguatera fish poisoning Poisoning caused by ingestion of seafood containing microgram levels of ciguatoxins. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances. tmpaxzxjjyw_mondo_relaxed.owl ciguatoxin causing toxic effect|Poisonings, ciguatera fish|ciguatera fish poisoning|ciguatera|ciguatera fish Poisonings|poisoning, ciguatera|poisoning, ciguatera fish|toxic effect of ciguatera fish poisoning|Poisonings, ciguatera|ciguatera Poisonings|ciguatera poisoning MESH:D036841|SCTID:241774007|GARD:0006113 owl:Class MONDO:0008330 biolink:NamedThing pseudomonilethrix tmpaxzxjjyw_mondo_relaxed.owl pseudomonilethrix UMLS:C0432346|OMIM:177750|SCTID:254229006|MESH:C562988 owl:Class MONDO:0032774 biolink:NamedThing cerebellar, ocular, craniofacial, and genital syndrome tmpaxzxjjyw_mondo_relaxed.owl COFG|CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME OMIM:618479 owl:Class NCIT:C36745 biolink:NamedThing Abnormal Epithelial Cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0032902 biolink:NamedThing Joubert syndrome 36 tmpaxzxjjyw_mondo_relaxed.owl JBTS36|JOUBERT SYNDROME 36 OMIM:618763 owl:Class MONDO:0023068 biolink:NamedThing engelhard yatziv syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0002124 https://rarediseases.info.nih.gov/diseases/2124/engelhard-yatziv-syndrome owl:Class MONDO:0010352 biolink:NamedThing intellectual disability, X-linked 82 tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, X-linked 82|MRX82|mental retardation, X-linked 82 MESH:C564496|Orphanet:777|OMIM:300518|UMLS:C1845286 owl:Class MONDO:0006212 biolink:NamedThing flat urothelial hyperplasia A type of hyperplasia that is characterized by a marked thickening of the urinary tract epithelium. There is no evidence of cytologic atypia. -- 2003 tmpaxzxjjyw_mondo_relaxed.owl flat urothelial hyperplasia NCIT:C27878|EFO:1000259 owl:Class MONDO:0018069 biolink:NamedThing distal trisomy 17q Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated. tmpaxzxjjyw_mondo_relaxed.owl trisomy 17qter|telomeric duplication 17q|distal trisomy type 17q|distal duplication 17q Orphanet:3379|ICD10:Q92.3|SCTID:766051001 owl:Class MONDO:0025690 biolink:NamedThing microcephaly, epilepsy, and diabetes syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl MEDS2 OMIM:619278 owl:Class MONDO:0032572 biolink:NamedThing cardiac, facial, and digital anomalies with developmental delay tmpaxzxjjyw_mondo_relaxed.owl CAFDADD|CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY OMIM:618164 owl:Class HGNC:6180 biolink:NamedThing ITPR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009724 biolink:NamedThing nail-patella-like renal disease Nail-patella-like renal disease is a severe nephropathy characterised by renal dysfunction, proteinuria, oedema and microscopic haematuria. It has been described in three brothers, two of which died from end-stage renal insufficiency. tmpaxzxjjyw_mondo_relaxed.owl glomerular basement Membrane disease, nail-patella syndrome type|Salcedo syndrome|nail patella like renal disease|nail-patella-like renal disease MESH:C537228|GARD:0000321|SCTID:236527004|OMIM:256020|ICD9:756.89|UMLS:C0403548|Orphanet:2613 owl:Class HGNC:8059 biolink:NamedThing NUMA1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020415 biolink:NamedThing Kommerell diverticulum Kommerell diverticulum (KD) is a developmental anomaly of the aortic arch characterized by a diverticulum at the proximal descending aorta of left or right arch configuration that gives rise to an aberrant subclavian artery. KD is primarily asymptomatic but may become symptomatic secondary to dilatation of KD, atheroma and fibrotic changes in paratracheal or paraesophageal tissue, presenting with signs of tracheal compression (more common in children), esophageal compression (dysphagia lusoria; more common in patients with a right sided aortic arch), chest pain, or blood pressure difference in the upper limbs. KD may also predispose toward aortic dissection or rupture. tmpaxzxjjyw_mondo_relaxed.owl SCTID:74561007|ICD10:Q25.4|Orphanet:99077 owl:Class NCBITaxon:43801 biolink:NamedThing Ceratopogoninae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0013007 biolink:NamedThing combined immunodeficiency due to ORAI1 deficiency A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis. tmpaxzxjjyw_mondo_relaxed.owl CID due to ORAI1 deficiency|immunodeficiency type 9|IMD9|immune dysfunction with T-cell inactivation due to calcium entry defect 1|immunodeficiency 9 Orphanet:317428|Orphanet:169090|MESH:C557826|GARD:0010524|UMLS:C2748568|OMIM:612782|ICD10:D81.8 owl:Class MONDO:0030928 biolink:NamedThing microcephaly 26, primary, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl MCPH26|microcephaly 26, primary, autosomal dominant OMIM:619179 https://github.com/monarch-initiative/mondo/issues/3738 owl:Class MONDO:0010082 biolink:NamedThing subaortic stenosis-short stature syndrome tmpaxzxjjyw_mondo_relaxed.owl Onat syndrome|subaortic stenosis--short stature syndrome|subaortic stenosis short stature syndrome UMLS:C0795947|OMIM:271960|GARD:0000405|Orphanet:3191|MESH:C537749 https://rarediseases.info.nih.gov/diseases/405/subaortic-stenosis-short-stature-syndrome owl:Class CL:0002059 biolink:NamedThing CD8alpha-positive thymic conventional dendritic cell A conventional thymic dendritic cell that is CD8alpha-positive. tmpaxzxjjyw_mondo_relaxed.owl CD8alpha-alpha-positive thymic conventional dendritic cell|DC.8+.Th tmeehan 2010-06-07T02:48:36Z cell owl:Class MONDO:0007628 biolink:NamedThing foveal hypoplasia 1 Any foveal hypoplasia in which the cause of the disease is a mutation in the PAX6 gene. tmpaxzxjjyw_mondo_relaxed.owl foveal hypoplasia type 1|foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts|FVH1|foveal hypoplasia 1|PAX6 foveal hypoplasia|O Donnell Pappas syndrome|foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract|foveal hypoplasia caused by mutation in PAX6|foveal hypoplasia, presenile cataract UMLS:C3805604|GARD:0000406|OMIM:136520|Orphanet:2253 owl:Class MONDO:0042964 biolink:NamedThing Machado-Joseph disease type 4 A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment. tmpaxzxjjyw_mondo_relaxed.owl azorean disease, type iv ICD9:334.3|SCTID:91956006|UMLS:C0686352 owl:Class MONDO:0032814 biolink:NamedThing microangiopathy and leukoencephalopathy, pontine, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl PADMAL|Dementia, Hereditary Multi-Infarct, Swedish Type|MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT OMIM:618564 owl:Class MONDO:0018375 biolink:NamedThing traumatic avascular necrosis tmpaxzxjjyw_mondo_relaxed.owl traumatic AVN Orphanet:399175|ICD10:M87.2 owl:Class MONDO:0006546 biolink:NamedThing erythematosquamous dermatosis A skin condition that primarily affects the scalp and face and presents as scaly inflammation. Examples include itchy, dry skin and dandruff. tmpaxzxjjyw_mondo_relaxed.owl erythematosquamous dermatosis|Other erythematosquamous dermatosis EFO:1000695|SCTID:54792008|ICD9:690|UMLS:C0014747|NCIT:C34591|DOID:9097|ICD9:690.8 owl:Class MONDO:0014009 biolink:NamedThing autosomal recessive congenital ichthyosis 7 An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has material basis in variation in the chromosome region 12p11.2-q13.1. tmpaxzxjjyw_mondo_relaxed.owl ichthyosis, congenital, autosomal recessive 7|autosomal recessive congenital ichthyosis type 7|ARCI7 DOID:0060716|OMIM:615022|ICD10:Q80.2|UMLS:C3554348|Orphanet:79394 owl:Class MONDO:0020265 biolink:NamedThing mitochondrial disease with eye involvement tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN207076|Orphanet:98695 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inborn mitochondrial metabolism disorder' MONDO_0004069 owl:Class MONDO:0032732 biolink:NamedThing hearing loss, autosomal recessive 113 tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 113|DFNB113 DOID:0111636|OMIM:618410 owl:Class MONDO:0008585 biolink:NamedThing HELLP syndrome A life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: H emolysis, E levated L iver enzyme levels, and L ow P latelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue; malaise; fluid retention and excess weight gain; headache; nausea and vomiting; pain in the upper right or middle of the abdomen; blurry vision; and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby.The main treatment is to deliver the baby as soon as possible, even if premature. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems. tmpaxzxjjyw_mondo_relaxed.owl hemolysis-elevated liver enzymes-low platelet count syndrome|hemolysis-elevated liver enzymes-low platelets syndrome|hemolysis, elevated liver enzymes, and low platelet count|hemolysis, elevated liver enzymes, low platelets in pregnancy|PEE1|toxemia of pregnancy|PREECLAMPSIA/eclampsia 1|PREG1|hypertension, pregnancy-induced|hemolysis, elevated liver enzymes, lowered platelets Orphanet:275555|GARD:0008528|NCIT:C84750|MESH:D017359|UMLS:C0162739|DOID:13133|EFO:0007297|OMIM:189800|MedDRA:10049058|Orphanet:244242|ICD10:O14.2 https://rarediseases.info.nih.gov/diseases/8528/hellp-syndrome owl:Class MONDO:0009178 biolink:NamedThing epidermolysis bullosa dystrophica Neurotrophica tmpaxzxjjyw_mondo_relaxed.owl epidermolysis bullosa dystrophica Neurotrophica|epidermolysis bullosa with congenital deafness|epidermolysis bullosa progressiva, recessive ICD9:757.39|MESH:C562637|SCTID:254176007|OMIM:226500 owl:Class MONDO:0054697 biolink:NamedThing immunodeficiency 11b with atopic dermatitis tmpaxzxjjyw_mondo_relaxed.owl immunodeficiency 11B with ATOPIC dermatitis|IMD11B|atopic dermatitis, elevated IgE, and eosinophilia OMIM:617638|UMLS:C4539957 owl:Class MONDO:0043096 biolink:NamedThing holoacardius amorphus tmpaxzxjjyw_mondo_relaxed.owl Holoacardius amorphus|amorphous globosus|fetus anideus|amorphus globosus SCTID:41049003|Orphanet:2161|GARD:0002720 owl:Class MONDO:0001883 biolink:NamedThing blue toe syndrome A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation. tmpaxzxjjyw_mondo_relaxed.owl DOID:14121|UMLS:C0242645|MESH:D018438 owl:Class MONDO:0022937 biolink:NamedThing deafness conductive stapedial ear malformation facial palsy tmpaxzxjjyw_mondo_relaxed.owl GARD:0001684 https://rarediseases.info.nih.gov/diseases/1684/deafness-conductive-stapedial-ear-malformation-facial-palsy owl:Class MONDO:0029138 biolink:NamedThing developmental and epileptic encephalopathy, 67 tmpaxzxjjyw_mondo_relaxed.owl DEE67|EIEE67|epileptic encephalopathy, early infantile, 67 OMIM:618141 owl:Class NCBITaxon:1314886 biolink:NamedThing Neobalantidium tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0001364 biolink:NamedThing regular astigmatism tmpaxzxjjyw_mondo_relaxed.owl ICD9:367.21|UMLS:C0152193|DOID:11781|SCTID:68905002|ICD10:H52.22 owl:Class MONDO:0017328 biolink:NamedThing non-central nervous system-localized embryonal carcinoma tmpaxzxjjyw_mondo_relaxed.owl non-CNS-localized embryonal carcinoma ICD10:C22.7|UMLS:CN202968|Orphanet:289362 owl:Class MONDO:0019192 biolink:NamedThing AKT2-related familial partial lipodystrophy tmpaxzxjjyw_mondo_relaxed.owl familial partial lipodystrophy due to AKT2 mutations|AKT2-related FPLD Orphanet:79085|UMLS:CN536246|UMLS:CN205772|GARD:0012599|ICD10:E88.1 owl:Class MONDO:0016062 biolink:NamedThing median cleft lip/mandibule Midline cleft of lower lip is a rare anomaly defined as Cleft No. 30 in Tessier's classification. tmpaxzxjjyw_mondo_relaxed.owl median cleft lower facial stage SCTID:723383005|Orphanet:2006|ICD10:Q36.1 owl:Class HGNC:464 biolink:NamedThing AMH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005255 biolink:NamedThing mild heart failure Heart failure characterized by mild symptoms (mild shortness of breath and/or angina) and slight limitation during ordinary activity. tmpaxzxjjyw_mondo_relaxed.owl EFO:0003147|Wikipedia:New_York_Heart_Association_Functional_Classification owl:Class HGNC:24912 biolink:NamedThing LARP7 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004127 biolink:NamedThing lung occult adenocarcinoma A lung adenocarcinoma detectable by sputum cytology only. The primary tumor is undetectable radiographically or during bronchoscopy; therefore, it can not be assessed. tmpaxzxjjyw_mondo_relaxed.owl occult adenocarcinoma of lung|occult adenocarcinoma of the lung|occult lung adenocarcinoma DOID:7168|UMLS:C1335096|NCIT:C6699 owl:Class MONDO:0008022 biolink:NamedThing muscle cramps, familial tmpaxzxjjyw_mondo_relaxed.owl muscle cramps, familial MESH:C563563|OMIM:158400|UMLS:C1834708 owl:Class MONDO:0008053 biolink:NamedThing myopia 2, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl myopia 2, autosomal dominant|MYP2 UMLS:C1834531|MESH:C563541|OMIM:160700 owl:Class MONDO:0022577 biolink:NamedThing Billet bear syndrome A congenital malformation syndrome characterized by partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations. tmpaxzxjjyw_mondo_relaxed.owl billet-bear syndrome|Lower limb partial duplication renal agenesis GARD:0000892 https://rarediseases.info.nih.gov/diseases/892/billet-bear-syndrome owl:Class MONDO:0030353 biolink:NamedThing Joubert syndrome 38 tmpaxzxjjyw_mondo_relaxed.owl JBTS38|Joubert syndrome 38 OMIM:619476 owl:Class MONDO:0010888 biolink:NamedThing endometriosis of uterus The growth of endometrial tissue inside the muscular wall of the uterine corpus. Clinical manifestations include pain, dysmenorrhea, and menorrhagia. tmpaxzxjjyw_mondo_relaxed.owl adenomyosis|uterine corpus adenomyosis|endometriosis, myometrium|adenomyosis of the uterus|endometriosis interna|myometrium endometriosis (disease)|uterus corpus adenomyosis|endometriosis (disease) of myometrium|endometriosis of myometrium|adenomyosis of uterus|uterine adenomyosis GARD:0008156|NCIT:C6996|UMLS:C0341858|ICD9:617.0|ICD10:N80.0|EFO:1001757|SCTID:237115002|OMIM:600458|DOID:288|MESH:D062788 Editor note: NCIT does not classify as a subtype of endometriosis owl:Class HP:0010528 biolink:NamedThing Prosopagnosia Inability to recognize faces of familiar persons. tmpaxzxjjyw_mondo_relaxed.owl Face blindness|Facial agnosia MSH:D020238|UMLS:C0234512|SNOMEDCT_US:18358003 peter 2009-09-20T11:45:49Z human_phenotype owl:Class MONDO:0003010 biolink:NamedThing multilocular clear cell renal cell carcinoma A rare type of renal cell carcinoma. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells. tmpaxzxjjyw_mondo_relaxed.owl multilocular clear cell renal cell carcinoma|multilocular clear cell carcinoma|renal cystadenocarcinoma|multilocular cystic renal cell cancer|multilocular cystic renal neoplasm of low malignant potential|cystadenocarcinoma of kidney|multilocular clear cell renal cell adenocarcinoma|multilocular cystic clear cell renal cell neoplasm of low malignant potential|MCRCC|multilocular clear cell adenocarcinoma|multilocular cystic renal cell adenocarcinoma|multilocular cystic renal cell carcinoma SCTID:254916002|UMLS:C0346249|DOID:4463|Orphanet:319287|ICD9:189.0|ICDO:8316/3|ICD10:C64|NCIT:C4524 owl:Class MONDO:0011184 biolink:NamedThing childhood apraxia of speech tmpaxzxjjyw_mondo_relaxed.owl speech-language disorder 1|developmental verbal dyspraxia|developmental apraxia of speech|articulatory apraxia|das|CAS|childhood apraxia of speech|speech-language disorder-1|speech-language disorder type 1|SPCH1|developmental verbal apraxia|speech and language disorder with orofacial dyspraxia ICD9:315.39|Orphanet:209908|OMIM:602081|GARD:0012889|SCTID:229703009 owl:Class MONDO:0009695 biolink:NamedThing myeloproliferative disease, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl myeloproliferative disease, autosomal recessive MESH:C564977|UMLS:C1850779|OMIM:254700 owl:Class MONDO:0020419 biolink:NamedThing pulmonary artery hypoplasia tmpaxzxjjyw_mondo_relaxed.owl pulmonary artery hypoplasia|pulmonary artery hypoplasia (disease) pulmonary artery hypoplasia (disease) Orphanet:99083|ICD10:Q25.7|HP:0004971|SCTID:54682008 owl:Class UBERON:0009640 biolink:NamedThing hypophyseal cartilage tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0011448 biolink:NamedThing PPARG-related familial partial lipodystrophy tmpaxzxjjyw_mondo_relaxed.owl familial partial lipodystrophy type 3|familial partial lipodystrophy associated with PPARG mutations|FPLD3|PPARG-related FPLD|lipodystrophy, familial partial, type 3|lipodystrophy, familial partial, associated with Pparg mutations ICD10:E88.1|Orphanet:79083|GARD:0012600|OMIM:604367|DOID:0070204 owl:Class MONDO:0030065 biolink:NamedThing agenesis of corpus callosum, cardiac, ocular, and genital syndrome tmpaxzxjjyw_mondo_relaxed.owl ACOGS|AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME|agenesis of corpus callosum, cardiac, ocular, and genital syndrome OMIM:618929 owl:Class MONDO:0024377 biolink:NamedThing circadian rhythm sleep disorder, delayed sleep phase type A circadian sleep disorder in which the individual's internal body clock is delayed with respect to the external day/night cycle. tmpaxzxjjyw_mondo_relaxed.owl DSPS|sleepwake schedule disorder, delayed phase|sleep wake schedule disorder, delayed phase type|sleep-wake schedule disorder, delayed phase|DSPD|delayed sleep phase syndrome UMLS:C0393770|SCTID:80623000|ICD10:G47.21|DOID:0111141|SCTID:28011000119104 owl:Class MONDO:0009442 biolink:NamedThing ichthyosis congenita with biliary atresia tmpaxzxjjyw_mondo_relaxed.owl ichthyosis congenita with biliary atresia|ichthyosis congenita biliary atresia|congenital ichthyosis with biliary atresia GARD:0002948|MESH:C562886|SCTID:235916001|OMIM:242400 https://rarediseases.info.nih.gov/diseases/2948/ichthyosis-congenita-biliary-atresia owl:Class MONDO:0005467 biolink:NamedThing occupation-related stress disorder The response people may have when presented with work demands and pressures that are not matched to their knowledge and abilities and which challenge their ability to cope. tmpaxzxjjyw_mondo_relaxed.owl SCTID:10586006|Wikipedia:Occupational_stress|EFO:0005250 https://github.com/monarch-initiative/mondo/issues/3061 owl:Class MONDO:0011260 biolink:NamedThing pancreatic lymphoma, familial An instance of pancreas lymphoma that is caused by an inherited modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl pancreatic lymphoma, familial|hereditary pancreas lymphoma MESH:C566516|OMIM:602596|UMLS:C1865139 owl:Class MONDO:0044210 biolink:NamedThing thalassemia minor The inheritance of only one mutated beta-globin allele (beta+ or beta0). tmpaxzxjjyw_mondo_relaxed.owl beta thalassemia trait ICD10:D56.3|SCTID:19442009|SCDO:0000114|MedDRA:10054662 owl:Class MONDO:0009163 biolink:NamedThing encephalomalacia, multilocular tmpaxzxjjyw_mondo_relaxed.owl encephalomalacia, multilocular MESH:C565597|UMLS:C1856991|OMIM:225700 owl:Class MONDO:0100044 biolink:NamedThing acrofrontofacionasal dysostosis 1 tmpaxzxjjyw_mondo_relaxed.owl AFFN dysostosis 1|acrofrontofacionasal dysostosis type 1|acrofrontofacionasal dysostosis 1 OMIM:201180|UMLS:C4551987|MESH:C538186 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0008715 biolink:NamedThing acrofrontofacionasal dysostosis A congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. tmpaxzxjjyw_mondo_relaxed.owl acrofrontofacionasal dysostosis 1|polysyndactyly, postaxial, frontonasal dysostosis, and cleft Lip/palate|cleft Lip/palate with frontonasal dysostosis and postaxial polysyndactyly|polysyndactyly, postaxial, frontonasal dysostosis and cleft lip/palate|acrofrontofacionasal dysostosis type 1|AFFN dysostosis|acro fronto facio nasal dysostosis|Richieri-Costa-Colletto syndrome|acrofrontofacionasal dysostosis syndrome|Affn dysostosis 1 ICD10:Q75.1|Orphanet:1784|MESH:C538186|GARD:0000484|DOID:0060226|UMLS:C1860118|SCTID:720408003|OMIM:239710|OMIM:201180 owl:Class MONDO:0013045 biolink:NamedThing mycobacterium tuberculosis, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl Mycobacterium tuberculosis, susceptibility to, type 3|mycobacterium tuberculosis, susceptibility to, 3|MTBS3 OMIM:612929 owl:Class MONDO:0012101 biolink:NamedThing glaucoma 1, open angle, J tmpaxzxjjyw_mondo_relaxed.owl glaucoma 1, open angle, J|JOAG1J|JOAG2|glaucoma, primary open angle, juvenile-onset, 2|GLC1J Orphanet:98977|MESH:C563874|UMLS:C1837528|OMIM:608695 owl:Class MONDO:0009630 biolink:NamedThing microphthalmia, isolated, with coloboma 4 tmpaxzxjjyw_mondo_relaxed.owl MCOPCB4|microphthalmia with colobomatous cyst|microphthalmia, isolated, with coloboma 4|microphthalmia, isolated, with coloboma type 4 SCTID:715771008|OMIM:251505|Orphanet:98938|UMLS:C1855053 owl:Class MONDO:0044776 biolink:NamedThing premature ovarian failure 10 Premature ovarian failure-10 (POF10) represents a syndrome characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells.nnFor a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (OMIM:311360).nnFor a discussion of genetic heterogeneity of age at natural menopause, see MENOQ1 (OMIM:300488). tmpaxzxjjyw_mondo_relaxed.owl Pof10|premature ovarian failure 10|menopause, natural, Age At, quantitative trait locus 3 OMIM:612885 owl:Class MONDO:0009286 biolink:NamedThing gluteal muscles, absence of tmpaxzxjjyw_mondo_relaxed.owl gluteal muscle, absence of|gluteal muscles, absence of|congenital absence of gluteal muscles|absence of gluteal muscle OMIM:231970|MESH:C535561|GARD:0008518 https://rarediseases.info.nih.gov/diseases/8518/absence-of-gluteal-muscle owl:Class MONDO:0033646 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 12 tmpaxzxjjyw_mondo_relaxed.owl MC4DN12 OMIM:619055 owl:Class NCBITaxon:34486 biolink:NamedThing Ancylistaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0018573 biolink:NamedThing intrauterine growth restriction-short stature-early adult-onset diabetes syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:436144|ICD10:Q87.1|UMLS:CN237586 owl:Class MONDO:0007459 biolink:NamedThing dilution, pigmentary tmpaxzxjjyw_mondo_relaxed.owl hypopigmentation|hypomelanotic disorder|albinism, partial|dilution, pigmentary|Albinoidism, oculocutaneous, autosomal dominant SCTID:23006000|GARD:0006731|OMIM:126070|UMLS:C1876214 owl:Class MONDO:0017106 biolink:NamedThing retrocerebellar cyst tmpaxzxjjyw_mondo_relaxed.owl retrocerebellar cyst (disease)|Retrocerebellar arachnoid cyst|Retrocerebellar cyst retrocerebellar cyst (disease) HP:0006951|Orphanet:269200 owl:Class NCBITaxon:10375 biolink:NamedThing Lymphocryptovirus tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0030338 biolink:NamedThing anencephaly 2 tmpaxzxjjyw_mondo_relaxed.owl anencephaly 2|ANPH2 OMIM:619452 owl:Class MONDO:0010688 biolink:NamedThing hereditary sensory neuropathy X-linked A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. tmpaxzxjjyw_mondo_relaxed.owl neuropathy, hereditary sensory, X-linked MESH:C564090|UMLS:C1839602|DOID:0070159|OMIM:310470 owl:Class MONDO:0001841 biolink:NamedThing uterine corpus epithelioid leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by the presence of round or polygonal epithelioid smooth muscle cells forming clusters. tmpaxzxjjyw_mondo_relaxed.owl DOID:13951|NCIT:C40164|UMLS:C1519850 owl:Class MONDO:0100034 biolink:NamedThing cerebral folate deficiency Cerebral folate deficiency is defined as a neurological syndrome associated with low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite, in the presence of normal folate metabolism outside the nervous system. Cerebral folate deficiency can result from either disturbed folate transport or from increased folate turnover within the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl 2018-06-23 19:01:19+00:00 owl:Class MONDO:0008825 biolink:NamedThing arthrogryposis multiplex congenita-whistling face syndrome Arthrogryposis multiplex congenita-whistling face syndrome is an extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence. tmpaxzxjjyw_mondo_relaxed.owl lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system|Illum syndrome|arthrogryposis, whistling face, and developmental retardation|arthrogryposis, whistling face, and developintellectual disability|arthrogryposis multiplex congenita whistling face|ILLUM syndrome SCTID:720514008|UMLS:C1859711|GARD:0000792|Orphanet:1150|OMIM:208155|ICD10:Q87.8|MESH:C538401 owl:Class MONDO:0009343 biolink:NamedThing Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect tmpaxzxjjyw_mondo_relaxed.owl Hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect|Hirschsprung disease polydactyly heart disease OMIM:235750|UMLS:C1856111|GARD:0002696|MESH:C565517|MESH:C538120 https://rarediseases.info.nih.gov/diseases/2696/hirschsprung-disease-polydactyly-heart-disease owl:Class HGNC:26970 biolink:NamedThing COX20 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013492 biolink:NamedThing alopecia-intellectual disability syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl alopecia-intellectual disability syndrome 3|APMR3|alopecia-mental retardation syndrome 3 Orphanet:2850|UMLS:C3151362|OMIM:613930 owl:Class MONDO:0011276 biolink:NamedThing orofacial cleft 2 tmpaxzxjjyw_mondo_relaxed.owl cleft lip with or without cleft palate, nonsyndromic, 2|orofacial cleft 2|OFC2 OMIM:602966|UMLS:C1864323|DOID:0080396|MESH:C566419|Orphanet:1991 owl:Class MONDO:0008527 biolink:NamedThing tarsal coalition tmpaxzxjjyw_mondo_relaxed.owl tarsal coalition|tarsal fusion ICD9:755.67|SCTID:27173008|OMIM:186850 owl:Class MONDO:0022712 biolink:NamedThing oculo digital syndrome tmpaxzxjjyw_mondo_relaxed.owl multiple ophthalmic anomalies and digital hypoplasia|Chemke-Oliver-Mallek syndrome|Chemke Oliver Mallek syndrome MESH:C535922|GARD:0004025|UMLS:C2931063 https://rarediseases.info.nih.gov/diseases/4025/oculo-digital-syndrome owl:Class MONDO:0011267 biolink:NamedThing intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration tmpaxzxjjyw_mondo_relaxed.owl intellectual disability, severe, with spasticity and pigmentary tapetoretinal degeneration|Mrst|mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration OMIM:602685|UMLS:C1864549|MESH:C566429 owl:Class MONDO:0032730 biolink:NamedThing leukodystrophy, hypomyelinating, 18 tmpaxzxjjyw_mondo_relaxed.owl HLD18|LEUKODYSTROPHY, HYPOMYELINATING, 18 OMIM:618404 owl:Class MONDO:0006912 biolink:NamedThing pneumatosis cystoides intestinalis The presence of gas within the wall of the large or small intestine. tmpaxzxjjyw_mondo_relaxed.owl DOID:13249|MedDRA:10049732|NCIT:C122580|SCTID:17465007|UMLS:C0032266|EFO:1001113|MESH:D011006|ICD9:569.89 owl:Class MONDO:0004899 biolink:NamedThing monofixation syndrome tmpaxzxjjyw_mondo_relaxed.owl microtropia|microstrabismus DOID:9843|ICD9:378.34|ICD10:H50.42|UMLS:C0339611|SCTID:14785004 owl:Class MONDO:0000749 biolink:NamedThing breast abscess A breast disease characterized by a collection of pus in the breast. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0151463|SCTID:28432003|DOID:0060323 owl:Class MONDO:0017501 biolink:NamedThing congenital absence of both lower leg and foot, bilateral tmpaxzxjjyw_mondo_relaxed.owl tibiofibular terminal transverse meromelia, bilateral ICD10:Q72.23|Orphanet:295099|ICD10:Q72.2 owl:Class MONDO:0017016 biolink:NamedThing primary interstitial lung disease specific to childhood due to alveolar structure disorder tmpaxzxjjyw_mondo_relaxed.owl primary ILD specific to childhood due to alveolar structure disorder 2022-03-01 UMLS:CN202327|Orphanet:264670 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class MONDO:0007218 biolink:NamedThing brachydactyly type A4 Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit. tmpaxzxjjyw_mondo_relaxed.owl brachymesophalangy II and V|brachydactyly Temtamy type|brachydactyly, Temtamy type|Brachymesophalangy 2 and 5|brachydactyly, type A4|Brachymesophalangy II and V|Temtamy type brachydactyly|BDA4 SCTID:715721005|ICD10:Q73.8|GARD:0000990|OMIM:112800|Orphanet:93394|DOID:0110967|MESH:C537097 https://rarediseases.info.nih.gov/diseases/990/brachydactyly-type-a4 owl:Class MONDO:0009102 biolink:NamedThing diaminopentanuria tmpaxzxjjyw_mondo_relaxed.owl cystine-lysinuria|Diaminopentanuria MESH:C565630|OMIM:222350|UMLS:C1857285 owl:Class MONDO:0044739 biolink:NamedThing Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome tmpaxzxjjyw_mondo_relaxed.owl Stevens-Johnson/TEN overlap syndrome|Stevens-Johnson/toxic epidermal necrolysis overlap syndrome|SJS/TEN overlap syndrome Orphanet:506784|ICD10:L51.8 owl:Class MONDO:0007825 biolink:NamedThing incisors, rotation of upper central tmpaxzxjjyw_mondo_relaxed.owl incisors, rotation of upper central OMIM:147350 owl:Class MONDO:0015630 biolink:NamedThing von Willebrand disease type 2M A subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium in the absence of any deficiency of high molecular weight VWF multimers. tmpaxzxjjyw_mondo_relaxed.owl von Willebrand disease, type 2M OMIM:613554|SCTID:359729006|ICD10:D68.0|SCTID:359725000|Orphanet:166090|UMLS:C1282974|NCIT:C131688 Editor note: 2 sctitds refer to same disease owl:Class MONDO:0008078 biolink:NamedThing neurofibromatosis, familial spinal tmpaxzxjjyw_mondo_relaxed.owl Fsnf|neurofibromatosis, familial spinal OMIM:162210|UMLS:C1834235|DOID:0111253|MESH:C563523|Orphanet:636 owl:Class MONDO:0015562 biolink:NamedThing distal monosomy 17q Distal monosomy 17q is a very rare chromosomal disorder of unknown prevalence characterized by multiple craniofacial (microcephaly and eye, ear, and nose deformities), limb and other multiple organ abnormalities, growth and motor retardation and intellectual deficit. The syndrome is frequently lethal. The deletions include 17(q21.3q23), 17(q21.3q24.2), 17(q23.q24.3) and 17(q23.1q24.2). tmpaxzxjjyw_mondo_relaxed.owl partial monosomy 17q|distal 17q deletion|17q monosomy|17q deletion|chromosome 17q deletion|distal monosomy type 17q|telomeric deletion 17q|monosomy 17qter|monosomy 17q|deletion 17q Orphanet:1597|UMLS:C4275171|SCTID:715365000|GARD:0010972|ICD10:Q93.5 owl:Class MONDO:0001291 biolink:NamedThing brain compression tmpaxzxjjyw_mondo_relaxed.owl ICD10:G93.5|UMLS:C0009592|DOID:11457|SCTID:46963008|ICD9:348.4 owl:Class MONDO:0002347 biolink:NamedThing barbiturate dependence A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. tmpaxzxjjyw_mondo_relaxed.owl SCTID:231472009|ICD9:304.13|DOID:2575|ICD9:304.11 owl:Class MONDO:0012178 biolink:NamedThing intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature tmpaxzxjjyw_mondo_relaxed.owl intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature|mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature UMLS:C1836915|OMIM:609037|MESH:C563810 owl:Class MONDO:0001787 biolink:NamedThing hepatic infarction tmpaxzxjjyw_mondo_relaxed.owl infarct of liver ICD10:K76.3|ICD9:573.4|UMLS:C0151731|SCTID:17890003|DOID:13738 owl:Class MONDO:0012023 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 49 An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has material basis in variation in the chromosome region 1q21-q23. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant deafness 49|deafness, autosomal dominant 49|DFNA49|autosomal dominant nonsyndromic deafness 49|autosomal dominant nonsyndromic deafness type 49 DOID:0110572|UMLS:C1842136|OMIM:608372|MESH:C564250|ICD10:H90.3 owl:Class MONDO:0032830 biolink:NamedThing snijders blok-fisher syndrome tmpaxzxjjyw_mondo_relaxed.owl SNIBFIS|SNIJDERS BLOK-FISHER SYNDROME OMIM:618604 owl:Class MONDO:0001431 biolink:NamedThing toxic or nutritional optic neuropathy A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency. tmpaxzxjjyw_mondo_relaxed.owl nutritional optic neuropathy SCTID:82108004|ICD9:377.33|UMLS:C0155302|DOID:1209|ICD10:H46.2 owl:Class HGNC:20324 biolink:NamedThing TGDS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017520 biolink:NamedThing symbrachydactyly of hand and foot, bilateral tmpaxzxjjyw_mondo_relaxed.owl Orphanet:295138|ICD10:Q73.8|UMLS:CN203253 owl:Class MONDO:0008499 biolink:NamedThing short stature-wormian bones-dextrocardia syndrome Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia. tmpaxzxjjyw_mondo_relaxed.owl short stature wormian bones dextrocardia|Growth hormone deficiency with Wormian bones, Cardiac anomaly, and Brachycamptodactyly|STRATTON-PARKER syndrome|Stratton Parker syndrome|Stratton-Parker syndrome OMIM:185120|MESH:C566105|UMLS:C1861448|GARD:0004856|ICD10:Q87.1|SCTID:763631006|Orphanet:2863 owl:Class MONDO:0007170 biolink:NamedThing atresia of external auditory canal and conductive deafness tmpaxzxjjyw_mondo_relaxed.owl atresia of external auditory canal and conductive deafness UMLS:C3276095|Orphanet:141074|OMIM:108760 owl:Class MONDO:0032717 biolink:NamedThing amelogenesis imperfecta, type 3c tmpaxzxjjyw_mondo_relaxed.owl AI3C|AMELOGENESIS IMPERFECTA, TYPE IIIC|Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Recessive OMIM:618386|DOID:0111722 owl:Class MONDO:0004594 biolink:NamedThing puerperal pulmonary embolism tmpaxzxjjyw_mondo_relaxed.owl ICD10:O88.23|ICD9:673|ICD9:673.81|DOID:8512|ICD9:673.80|ICD10:O88.21|SCTID:200284000 owl:Class MONDO:0018430 biolink:NamedThing partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:401959|UMLS:CN226145|ICD10:Q04.3 owl:Class MONDO:0023530 biolink:NamedThing kallikrein hypertension tmpaxzxjjyw_mondo_relaxed.owl kallikrein attenuated hypertension UMLS:C1171349|GARD:0006811|HGNC:6357|MESH:C537707 https://rarediseases.info.nih.gov/diseases/6811/kallikrein-hypertension owl:Class MONDO:0032644 biolink:NamedThing epidermodysplasia verruciformis, susceptibility to, 3 tmpaxzxjjyw_mondo_relaxed.owl EV3|EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 OMIM:618267 owl:Class MONDO:0033651 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 16 tmpaxzxjjyw_mondo_relaxed.owl MC4DN16 OMIM:619060 owl:Class MONDO:0022323 biolink:NamedThing 2-hydroxyethyl methacrylate sensitization tmpaxzxjjyw_mondo_relaxed.owl 2-HEMA sensitization|sensitization to 2-hydroxyethyl methacrylate MESH:C535305|UMLS:C2930873|GARD:0008635 https://rarediseases.info.nih.gov/diseases/8635/2-hydroxyethyl-methacrylate-sensitization owl:Class MONDO:0014562 biolink:NamedThing neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome tmpaxzxjjyw_mondo_relaxed.owl coenzyme Q10 deficiency, primary, 7|coenzyme Q10 deficiency, primary, type 7|COQ10D7|primary coenzyme Q10 deficiency 7|COQ4-related neonatal encephalomyopathy DOID:0070244|UMLS:C4225392|Orphanet:457185|OMIM:616276 owl:Class MONDO:0009812 biolink:NamedThing osteomalacia, sclerosing, with cerebral calcification tmpaxzxjjyw_mondo_relaxed.owl osteomalacia, sclerosing, with cerebral calcification UMLS:C1850141|OMIM:259660|MESH:C564916 owl:Class MONDO:0003140 biolink:NamedThing immune-complex glomerulonephritis Inflammation of the glomeruli characterized by the accumulation of antibody-antigen immune complexes, resulting in glomerular damage and impaired kidney function. tmpaxzxjjyw_mondo_relaxed.owl immune Complex glomerulonephritis UMLS:C0744421|SCTID:123752003|ICD9:583.89|DOID:4784|NCIT:C35800 owl:Class MONDO:0054666 biolink:NamedThing ovarian dysgenesis 5 tmpaxzxjjyw_mondo_relaxed.owl ODG5|ovarian dysgenesis 5 UMLS:C4540141|OMIM:617690|DOID:0080497 owl:Class CHEBI:60027 biolink:NamedThing polymer A polymer is a mixture, which is composed of macromolecules of different kinds and which may be differentiated by composition, length, degree of branching etc.. tmpaxzxjjyw_mondo_relaxed.owl Kunststoff|Polymer owl:Class MONDO:0009122 biolink:NamedThing Dohle bodies and leukemia tmpaxzxjjyw_mondo_relaxed.owl Dohle bodies and leukemia MESH:C565617|OMIM:223350|UMLS:C1857225 owl:Class MONDO:0013777 biolink:NamedThing pseudohypoaldosteronism type 2B Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene. tmpaxzxjjyw_mondo_relaxed.owl WNK4 pseudohypoaldosteronism type 2|PHA2B|pseudohypoaldosteronism, type 2B|pseudohypoaldosteronism type 2 caused by mutation in WNK4|pseudohypoaldosteronism, type IIB Orphanet:88939|OMIM:614491|UMLS:C1840390|ICD10:I15.1|Orphanet:757|MESH:C564161 owl:Class MONDO:0100377 biolink:NamedThing acute myeloid leukemia, t(10;11)(p12;q23) Any acute myeloid leukemia that has the chromosomal anomaly t(10;11)(p12;q23). (A cytogenetic abnormality that refers to the translocation of chromosome 10p12 with chromosome 11q23. It is associated with acute myeloid leukemia in childhood.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(10;11)(p12;q23) NCIT:C132102|NCIT:C132101 owl:Class MONDO:0023232 biolink:NamedThing giant cell myocarditis An often fatal inflammatory disorder that affects the myocardium. Morphologically, it is characterized by the presence of an inflammatory infiltrate in the myocardial tissue that includes multinucleated giant cells. It is often associated with the presence of an autoimmune disorder. Patients present with arrhythmias and/or heart failure. Heart transplantation is the only treatment option available. tmpaxzxjjyw_mondo_relaxed.owl GCM|giant cell myocarditis|idiopathic giant-cell myocarditis GARD:0006502|NCIT:C97055|SCTID:60812006|UMLS:C0264856 https://rarediseases.info.nih.gov/diseases/6502/giant-cell-myocarditis owl:Class MONDO:0001435 biolink:NamedThing bullous retinoschisis tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0344289|ICD9:361.12|DOID:12108|SCTID:65545003 owl:Class MONDO:0006429 biolink:NamedThing splenic hodgkin lymphoma A rare Hodgkin lymphoma that arises from the spleen. tmpaxzxjjyw_mondo_relaxed.owl splenic Hodgkins lymphoma|primary splenic Hodgkin's lymphoma|Hodgkin's disease of spleen|splenic Hodgkin's lymphoma|Hodgkin's lymphoma of spleen|splenic Hodgkin's disease|Hodgkin's disease of the spleen|Hodgkin's lymphoma of the spleen NCIT:C7295|SCTID:93527005|UMLS:C0153791|EFO:1000548 owl:Class MONDO:0020762 biolink:NamedThing diencephalic-mesencephalic junction dysplasia syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia|DMJDS2 OMIM:618646 owl:Class MONDO:0008186 biolink:NamedThing pancytopenia and occlusive vascular disease tmpaxzxjjyw_mondo_relaxed.owl pancytopenia and occlusive vascular disease OMIM:167850|UMLS:C1868652|MESH:C566836 owl:Class HGNC:8653 biolink:NamedThing PCCA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001527 biolink:NamedThing conjugate gaze palsy tmpaxzxjjyw_mondo_relaxed.owl palsy of conjugate gaze UMLS:C0702143|DOID:12445|ICD9:378.81|SCTID:1534008 owl:Class SO:0002122 biolink:NamedThing immunoglobulin_gene A germline immunoglobulin gene. tmpaxzxjjyw_mondo_relaxed.owl All_IG_genes|IG_genes owl:Class MONDO:0060550 biolink:NamedThing polydactyly, postaxial, type a7 tmpaxzxjjyw_mondo_relaxed.owl polydactyly, postaxial, type A7|PAPA7 OMIM:617642 owl:Class MONDO:0054582 biolink:NamedThing Townes-Brocks syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl TBS2|Townes-Brocks syndrome 2 OMIM:617466 owl:Class MONDO:0011363 biolink:NamedThing diabetes mellitus, noninsulin-dependent, 3 tmpaxzxjjyw_mondo_relaxed.owl NIDDM3|diabetes mellitus, noninsulin-dependent, 3|diabetes mellitus, noninsulin-dependent, type 3|noninsulin-dependent diabetes mellitus 3 MESH:C566342|UMLS:C1863594|OMIM:603694 owl:Class MONDO:0001588 biolink:NamedThing chronic lacrimal gland enlargement tmpaxzxjjyw_mondo_relaxed.owl chronic enlargement of lacrimal gland SCTID:4839005|UMLS:C1300133|ICD9:375.03|DOID:12809|ICD10:H04.03 owl:Class MONDO:0016496 biolink:NamedThing pharyngeal-cervical-brachial variant of Guillain-Barre syndrome tmpaxzxjjyw_mondo_relaxed.owl pharyngeal-cervical-brachial variant of Guillain-Barré syndrome|pharyngo-cervico-brachial variant of Guillain-BarrC) syndrome|PCB variant of Guillain-Barré syndrome|pharyngo-cervico-brachial variant of GBS|PCB variant of Guillain-BarrC) syndrome|pharyngeal-cervical-brachial weakness|PCB variant of GBS|pharyngo-cervico-brachial variant of Guillain-Barré syndrome ICD10:G61.0|UMLS:CN201499|Orphanet:231426 owl:Class HGNC:6701 biolink:NamedThing LRPAP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015099 biolink:NamedThing unilateral hemispheric polymicrogyria tmpaxzxjjyw_mondo_relaxed.owl Orphanet:101071|ICD10:Q04.3 owl:Class MONDO:0001394 biolink:NamedThing chronic erythremia tmpaxzxjjyw_mondo_relaxed.owl DOID:11868|ICD9:207.1 owl:Class MONDO:0011736 biolink:NamedThing Cree intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl Cree mental retardation syndrome|Cree intellectual disability syndrome OMIM:606851|MESH:C564654|UMLS:C1847361 owl:Class MONDO:0100404 biolink:NamedThing acute myeloid leukemia, MLL gene rearrangement Any acute myeloid leukemia that has the chromosomal anomaly MLL gene rearrangement. (A molecular abnormality indicating rearrangement of the MLL (KMT2A) gene.) tmpaxzxjjyw_mondo_relaxed.owl AML, KMT2A Rearrangement|AML, Myeloid/Lymphoid or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila) Gene Rearrangement|AML, MLL gene rearrangement|AML, MLL Rearrangement|AML, Lysine Methyltransferase 2A Gene Rearrangement|AML, Myeloid/Lymphoid or Mixed Lineage Leukemia Gene Rearrangement|AML, Lysine (K)-Specific Methyltransferase 2A Gene Rearrangement|AML, Myeloid/Lymphoid Leukemia Gene Rearrangement|AML, Mixed Lineage Leukemia Gene Rearrangement|AML, KMT2A Gene Rearrangement NCIT:C174129|NCIT:C122623 owl:Class MONDO:0008225 biolink:NamedThing normokalemic periodic paralysis tmpaxzxjjyw_mondo_relaxed.owl normokalemic periodic paralysis|periodic paralysis type 3|normokalemic PP|NormoKPP|potassium-sensitive normokalemic periodic paralysis UMLS:C0268445|NCIT:C122791|GARD:0004009|OMIM:170600|Orphanet:680|SCTID:40381009 Editor note: NCIT says SNC4A, check this owl:Class MONDO:0005324 biolink:NamedThing seasonal allergic rhinitis Allergic rhinitis caused by outdoor allergens. tmpaxzxjjyw_mondo_relaxed.owl seasonal allergic rhinitis|hay fever NCIT:C92188|SCTID:367498001|MESH:D006255|EFO:0003956 owl:Class MONDO:0004106 biolink:NamedThing testicular yolk sac tumor, macrocystic pattern A yolk sac tumor that arises from the testis and is characterized by the presence of collections of thin-walled spaces. tmpaxzxjjyw_mondo_relaxed.owl macrocystic pattern testicular yolk sac tumor|testicular yolk sac tumor, macrocystic pattern UMLS:C1515307|NCIT:C39924|DOID:7097 owl:Class MONDO:0001590 biolink:NamedThing quadriplegia Paralysis of all four limbs. tmpaxzxjjyw_mondo_relaxed.owl bilateral diplegia|tetraplegia SCTID:11538006|ICD9:344.00|UMLS:C0034372|ICD10:G82.50|DOID:12835|ICD10:G82.5|NCIT:C50721|ICD9:344.09|MESH:D011782 owl:Class HGNC:738 biolink:NamedThing ASCL1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015985 biolink:NamedThing bone dysplasia, Azouz type Bone dysplasia Azouz type is a form of generalized enchondromatosis with involvement of the spine (so called spondyloenchondromatosis). Spondyloenchondromatosis is a very rare skeletal dysplasia characterized by severe platyspondyly, and mild involvement of hands and feet. tmpaxzxjjyw_mondo_relaxed.owl bone dysplasia Azouz type SCTID:720566004|UMLS:C4303993|GARD:0000920|Orphanet:1844|ICD10:Q78.4 https://rarediseases.info.nih.gov/diseases/920/bone-dysplasia-azouz-type owl:Class MONDO:0006726 biolink:NamedThing diaphragmatic eventration A congenital or acquired abnormality characterized by elevation of the hemidiaphragm. tmpaxzxjjyw_mondo_relaxed.owl diaphragmatic eventration (disease)|diaphragmatic eventration diaphragmatic eventration (disease) EFO:1000898|SCTID:34168003|NCIT:C98912|ICD10:Q79.1|DOID:10480|HP:0009110|MESH:D003965 owl:Class MONDO:0019536 biolink:NamedThing typical hemolytic-uremic syndrome Typical hemolytic-uremic syndrome (typical HUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction that is usually associated with prodromal enteritis caused by Shigella dysentriae type 1 or E. Coli. tmpaxzxjjyw_mondo_relaxed.owl Sxt-HUS|hemolytic-uremic syndrome with diarrhea|D+HUS|typical HUS|Shiga-like toxin-associated HUS|D-plus hemolytic uremic syndrome (D+HUS) OMIM:235400|Orphanet:90038|ICD10:D59.3|UMLS:CN206363|GARD:0006241 https://rarediseases.info.nih.gov/diseases/6241/d-plus-hemolytic-uremic-syndrome-dhus owl:Class MONDO:0001919 biolink:NamedThing cystoid macular retinal degeneration tmpaxzxjjyw_mondo_relaxed.owl cystoid macular degeneration of retina ICD10:H35.35|DOID:14245|UMLS:C0154850|SCTID:14046000|ICD9:362.53 owl:Class MONDO:0018437 biolink:NamedThing acute myeloid leukemia with NPM1 somatic mutations Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. tmpaxzxjjyw_mondo_relaxed.owl AML with NPM1 somatic mutations Orphanet:402026|ICD10:C92.0|SCTID:763309005 owl:Class MONDO:0001954 biolink:NamedThing thrombophlebitis migrans A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. tmpaxzxjjyw_mondo_relaxed.owl DOID:14392|ICD10:I82.1|ICD9:453.1|UMLS:C0152250|SCTID:31268005 owl:Class MONDO:0003770 biolink:NamedThing thoracic spinal canal and spinal cord meningioma A meningioma that arises from the meninges of the thoracic region of the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl thoracic intraspinal meningioma|meningioma of thoracic spinal canal and spinal cord|meningioma of the thoracic spinal canal and spinal cord NCIT:C5297|UMLS:C1336738|DOID:6103 owl:Class MONDO:0007153 biolink:NamedThing arteries, anomalies of tmpaxzxjjyw_mondo_relaxed.owl arteries, anomalies of OMIM:108000 owl:Class MONDO:0024378 biolink:NamedThing circadian rhythm sleep disorder, advanced sleep phase type A circadian sleep disorder characterized by bedtime and wake-up time much earlier than normal, although sleep quality is normal. tmpaxzxjjyw_mondo_relaxed.owl advanced sleep phase syndrome|sleep-wake schedule disorder, advanced phase type|circadian rhythm sleep disorder, advanced sleep phase type|circadian rhythm sleep disorder, advanced sleep phase|ASPS ICD10:G47.22|ICD9:327.32|SCTID:31537005 owl:Class MONDO:0012047 biolink:NamedThing alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia tmpaxzxjjyw_mondo_relaxed.owl alopecia universalis congenita, XY gonadal dysgenesis, and laryngomalacia UMLS:C1837946|OMIM:608509|MESH:C563920 owl:Class HGNC:15971 biolink:NamedThing TSG101 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0060562 biolink:NamedThing encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities tmpaxzxjjyw_mondo_relaxed.owl lipoyltransferase 2 deficiency|NELABA|encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities OMIM:617668|UMLS:C4540052 owl:Class MONDO:0019526 biolink:NamedThing erythema elevatum diutinum Erythema elevatum diutinum (EED) is a distinctive form of chronic cutaneous vasculitis, belonging to the group of the neutrophilic dermatoses. tmpaxzxjjyw_mondo_relaxed.owl GARD:0008653|ICD10:L95.1|ICD9:695.89|UMLS:C0263398|SCTID:58872001|MedDRA:10056968|DOID:0060567|Orphanet:90000|MESH:C535509 https://rarediseases.info.nih.gov/diseases/8653/erythema-elevatum-diutinum owl:Class MONDO:0009920 biolink:NamedThing Acrootoocular syndrome Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. tmpaxzxjjyw_mondo_relaxed.owl pseudopapilledema-blepharophimosis-hand anomalies syndrome|acrootoocular syndrome|Aoo syndrome|pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies Orphanet:2980|SCTID:720410001|ICD10:Q87.0|MESH:C564866|OMIM:264475|UMLS:C1849661 owl:Class MONDO:0004112 biolink:NamedThing radiation cystitis Inflammation of the bladder due to irradiation. tmpaxzxjjyw_mondo_relaxed.owl irradiation cystitis UMLS:C0156270|ICD9:595.82|ICD10:N30.4|DOID:7127|NCIT:C123174|SCTID:11251000 owl:Class MONDO:0003907 biolink:NamedThing ovarian yolk sac tumor, polyvesicular vitelline pattern A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues. tmpaxzxjjyw_mondo_relaxed.owl polyvesicular vitelline pattern ovarian yolk sac tumor|ovarian yolk sac tumor, polyvesicular vitelline pattern DOID:6514|NCIT:C39987|UMLS:C1518749 owl:Class MONDO:0015419 biolink:NamedThing midline cervical cleft Midline cervical cleft (MCC) is a rare congenital anomaly characterized by the presence at birth of a vertical, atrophic and usually erythematous skin defect, lacking adnexal elements in the midline of the neck that may be attached to a subcutaneous fibrous cord of variable length; a superior skin tag; and an inferior, short (usually about 1 cm in length) sinus (possibly with presence of discharge). If untreated (by surgical removal) complications include restriction of neck extension due to contracture and scarring. It is sometimes associated with other developmental defects such as bifid mandible, thyroglossal duct and branchial cysts, and microgenia. tmpaxzxjjyw_mondo_relaxed.owl SCTID:403557001|ICD10:Q18.8|ICD9:744.89|Orphanet:141288 owl:Class MONDO:0006382 biolink:NamedThing poorly differentiated thyroid gland carcinoma An adenocarcinoma arising from the thyroid gland showing only limited evidence of follicular cell differentiation. Microscopically, the adenocarcinoma cells are arranged in insular, solid, and trabecular patterns. There is associated necrosis, and vascular invasion. The prognosis depends on the tumor stage, complete or partial surgical removal of the tumor, and the degree of response to radioactive iodine therapy (adapted from WHO Tumors of Endocrine Organs, IARC Press, Lyon 2004) tmpaxzxjjyw_mondo_relaxed.owl insular carcinoma|poorly differentiated thyroid gland cancer|poorly differentiated carcinoma of thyroid gland|poorly differentiated thyroid cancer|poorly differentiated thyroid gland carcinoma|thyroid gland poorly differentiated carcinoma|poorly differentiated carcinoma of the thyroid gland|poorly differentiated thyroid carcinoma ONCOTREE:THPD|EFO:1000489|UMLS:C1266050|ICDO:8337/3|NCIT:C6040 owl:Class MONDO:0018084 biolink:NamedThing Uhl anomaly Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation. tmpaxzxjjyw_mondo_relaxed.owl Uhl's anomaly|parchment right ventricle Orphanet:3403|OMIM:107970|MedDRA:10048951|MESH:C536932|GARD:0005393|ICD10:Q24.8 Editor note: check xrefs owl:Class MONDO:0030997 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 37 tmpaxzxjjyw_mondo_relaxed.owl mitochondrial complex 1 deficiency, nuclear type 37|MC1DN37 OMIM:619272 owl:Class MONDO:0010076 biolink:NamedThing spondyloepimetaphyseal dysplasia, Irapa type Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. tmpaxzxjjyw_mondo_relaxed.owl SEMD, Irapa type|spondyloepimetaphyseal dysplasia, Irapa type|SEMDIT MESH:C562958|Orphanet:93351|ICD10:Q77.7|OMIM:271650|SCTID:717330004|UMLS:C0432213 owl:Class MONDO:0005469 biolink:NamedThing orthostatic hypotension Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up. tmpaxzxjjyw_mondo_relaxed.owl orthostatic hypotension (disease)|orthostatic hypotension orthostatic hypotension (disease) SCTID:28651003|NCIT:C84970|ICD9:458.0|HP:0001278|EFO:0005252 owl:Class MONDO:0009521 biolink:NamedThing leukemia, acute myelocytic, with polyposis coli and colon cancer tmpaxzxjjyw_mondo_relaxed.owl leukemia, acute myelocytic, with polyposis coli and colon cancer OMIM:246470|MESH:C565441|UMLS:C1855505 owl:Class MONDO:0010468 biolink:NamedThing aneurysm, intracranial berry, 5 tmpaxzxjjyw_mondo_relaxed.owl ANIB5|aneurysm, intracranial BERRY, 5 UMLS:C1835857|OMIM:300870|MESH:C563670 owl:Class MONDO:0013614 biolink:NamedThing hypertelorism-preauricular sinus-punctual pits-deafness syndrome tmpaxzxjjyw_mondo_relaxed.owl hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome|hypertelorism, preauricular sinus, punctal pits, and deafness|HPPD OMIM:614187|Orphanet:293958|UMLS:C3280065 owl:Class MONDO:0042979 biolink:NamedThing hypokalemic periodic paralysis, type 1 tmpaxzxjjyw_mondo_relaxed.owl hypokalemic periodic paralysis, type 1|HOKPP1 Orphanet:681|UMLS:C3714580|OMIM:170400 owl:Class MONDO:0012707 biolink:NamedThing familial febrile seizures 9 tmpaxzxjjyw_mondo_relaxed.owl febrile convulsions, familial, 9|febrile seizures, familial, 9|FEB9 UMLS:C1968846|OMIM:611634|MESH:C566901|DOID:0111303 owl:Class HGNC:33425 biolink:NamedThing MIAT tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004438 biolink:NamedThing sporadic breast cancer A carcinoma that arises from the breast and is not caused by inherited genetic mutations. tmpaxzxjjyw_mondo_relaxed.owl sporadic breast cancer|sporadic breast carcinoma DOID:8029|UMLS:C1336076|NCIT:C7566 owl:Class MONDO:0100160 biolink:NamedThing alcoholic ketoacidosis An acute disease characterized by severe ketoacidosis in the absence of diabetes mellitus and occuring in individuals with a history of prolonged excessive alcohol consumption. Disease manifestations include nausea, intractable vomiting, and abdominal pain. When treated, AKA resolves rapidly and completely with no apparent sequelae. tmpaxzxjjyw_mondo_relaxed.owl alcoholic ketosis|alcoholic acidosis In this disease, you have episodes of acidosis following long bouts of drinking and the ketone bodies seem to be the predominant but not sole type. owl:Class MONDO:0017935 biolink:NamedThing hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1) later in life. tmpaxzxjjyw_mondo_relaxed.owl hyperinsulinemic hypoglycemia due to HNF1A deficiency SCTID:721234004|ICD10:E16.1|Orphanet:324575|UMLS:C4303475 owl:Class MONDO:0020540 biolink:NamedThing ovarian gynandroblastoma A rare neoplasm arising from the ovary. Although it may occur at any age, it is more often seen in young females. Morphologically, it is characterized by a mixture of two cellular populations: well differentiated Sertoli cells and granulosa cells, with the latter constituting at least ten percent of the neoplasm. The vast majority of cases are stage I lesions at presentation and produce either estrogenic or androgenic manifestations. Although it may present as a massive ovarian tumor, it usually follows a benign clinical course. Very rare case reports of testicular lesions morphologically resembling gynandroblastomas are in fact variants of juvenile granulose cell tumor, or Sertoli cell tumor, or a combination of both. tmpaxzxjjyw_mondo_relaxed.owl Gynandroblastoma|Gynandroblastoma of the ovary|Gynandroblastoma of ovary UMLS:C0018413|ICD10:D39.1|ICD10:D40.1|NCIT:C3072|GARD:0009665|EFO:1000422|UMLS:C0346178|Orphanet:99914|ICDO:8632/1|SCTID:254867003 https://rarediseases.info.nih.gov/diseases/9665/gynandroblastoma owl:Class MONDO:0013010 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 71 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 8p22-p21.3. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 71|autosomal recessive nonsyndromic deafness type 71|autosomal recessive nonsyndromic deafness 71|autosomal recessive deafness 71|DFNB71 ICD10:H90.3|UMLS:C2748554|MESH:C567562|DOID:0110522|OMIM:612789 owl:Class MONDO:0011567 biolink:NamedThing dilated cardiomyopathy 1K A dilated cardiomyopathy that has material basis in variation in the chromosome region 6q12-q16. tmpaxzxjjyw_mondo_relaxed.owl dilated cardiomyopathy type 1K|CMD1K|cardiomyopathy, dilated, 1K MESH:C565320|UMLS:C1854159|DOID:0110437|Orphanet:154|ICD10:I42.0|OMIM:605582 owl:Class MONDO:0001205 biolink:NamedThing hypersecretion glaucoma tmpaxzxjjyw_mondo_relaxed.owl ICD9:365.81|UMLS:C0154968|SCTID:29369005|DOID:11148|ICD10:H40.82 owl:Class MONDO:0001913 biolink:NamedThing oligospermia Decreased number of spermatozoa in the semen. tmpaxzxjjyw_mondo_relaxed.owl ICD9:606.1|ICD10:N46.11|ICD10:N46.1|NCIT:C34860|UMLS:C0028960|HP:0000798|DOID:14228|MESH:D009845 owl:Class MONDO:0007673 biolink:NamedThing Glucoglycinuria tmpaxzxjjyw_mondo_relaxed.owl Glucoglycinuria UMLS:C0268536|MESH:C562670|OMIM:138070 owl:Class MONDO:0020369 biolink:NamedThing Chandler syndrome Chandler syndrome, the most frequent clinical variant of iridocorneal endothelial (ICE) syndrome, is characterized by very few iris abnormalities but more severe corneal edema and less severe secondary glaucoma than seen in the other two ICE syndrome variants: Cogan-Reese syndrome and essential iris atrophy. tmpaxzxjjyw_mondo_relaxed.owl dystrophy of corneal endothelium|endothelial corneal dystrophy|Chandler's syndrome|posterior membrane corneal dystrophy SCTID:416960004|MESH:D057129|UMLS:C0544008|ICD10:H21.2|DOID:11554|Orphanet:98979|ICD10:H18.51|MedDRA:10057487|ICD9:371.57|GARD:0006033|UMLS:C1096100 owl:Class MONDO:0011161 biolink:NamedThing sperm-specific antigen 1 tmpaxzxjjyw_mondo_relaxed.owl fertilization antigen 1|sperm-specific antigen type 1|SSFA1|sperm-specific antigen 1 OMIM:601876 owl:Class MONDO:0003740 biolink:NamedThing AIDS phobia An overwhelming, irrational, and persistent fear of contracting Acquired Immune Deficiency Syndrome. tmpaxzxjjyw_mondo_relaxed.owl AIDS phobia UMLS:C0853870|EFO:1001873|DOID:603|NCIT:C35614 owl:Class MONDO:0030841 biolink:NamedThing mismatch repair cancer syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl MMRCS3|mismatch repair cancer syndrome 3 OMIM:619097 owl:Class MONDO:0032579 biolink:NamedThing warburg-cinotti syndrome tmpaxzxjjyw_mondo_relaxed.owl WRCN|WARBURG-CINOTTI SYNDROME OMIM:618175 owl:Class MONDO:0002775 biolink:NamedThing anovulation The absence of ovulation. tmpaxzxjjyw_mondo_relaxed.owl MESH:D000858|UMLS:C0003128|NCIT:C34388|DOID:3781 owl:Class HGNC:10561 biolink:NamedThing ATXN8OS tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0002174 biolink:NamedThing preretinal fibrosis A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291) tmpaxzxjjyw_mondo_relaxed.owl macular puckering of retina|macular retinal puckering|cellophane maculopathy ICD9:362.89|MESH:D019773|DOID:2006|SCTID:367649002|ICD9:362.56 owl:Class MONDO:0006989 biolink:NamedThing suppurative periapical periodontitis Localized collection of pus in the tissues that enclose the root of a tooth. tmpaxzxjjyw_mondo_relaxed.owl apical abscess|periapical abscess|dentoalveolar abscess|periapical dental abscess|suppurative apical periodontitis NCIT:C34913|UMLS:C0031024|DOID:2562|MESH:D010482|EFO:1001202 owl:Class MONDO:0008466 biolink:NamedThing Karsch-Neugebauer syndrome Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. tmpaxzxjjyw_mondo_relaxed.owl split hand nystagmus syndrome|Karsch-Neugebauer syndrome|Nystagmus-split hand syndrome|split-hand with congenital NYSTAGMUS, fundal changes, and cataracts|split hand split foot nystagmus|KNS|split hand/split foot-nystagmus syndrome MESH:C537319|Orphanet:2329|SCTID:722032005|UMLS:C1866740|OMIM:183800|GARD:0004967|ICD10:Q87.2 owl:Class MONDO:0020406 biolink:NamedThing complete atrioventricular canal-left heart obstruction syndrome tmpaxzxjjyw_mondo_relaxed.owl CAVC-left heart obstruction syndrome|complete atrioventricular canal type A|CAVC type A UMLS:CN207278|ICD10:Q21.2|Orphanet:99066 owl:Class MONDO:0016359 biolink:NamedThing limited systemic sclerosis Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc) characterized by organ involvement in the absence of fibrosis of the skin. tmpaxzxjjyw_mondo_relaxed.owl systemic sclerosis sine scleroderma|Scleroderma, sine|systemic sclerosis without skin involvement|SSC without skin involvement|progressive systemic sclerosis sine scleroderma SCTID:128461001|UMLS:C1290138|GARD:0009749|ICD10:M34.0|Orphanet:220407|NCIT:C116789 owl:Class MONDO:0010762 biolink:NamedThing lymphoma, Hodgkin, Y-linked pseudoautosomal tmpaxzxjjyw_mondo_relaxed.owl Hodgkin disease, Y-linked Pseudoautosomal|lymphoma, Hodgkin, Y-linked pseudoautosomal Orphanet:391|MESH:C564034|UMLS:C1839076|OMIM:400021 owl:Class MONDO:0017600 biolink:NamedThing hairy cell leukemia variant Hairy Cell Leukemia variant (HCL-V) is defined as a rare and indolent form of small, mature, B-cell leukemia characterized by splenomegaly, an elevated white blood cell (WBC) count and hyper-cellular bone marrow. HCL-V is more aggressive and resistant to therapy than classical HCL (HCL-C). tmpaxzxjjyw_mondo_relaxed.owl leukemic reticuloendotheliosis variant|hairy cell leukemia variant|prolymphocytic variant of hairy cell leukemia|prolymphocytic variant of HCL|HCL-v|HCL-V|hairy cell leukaemia variant DOID:713|ICDO:9591/3|ICD10:C91.4|UMLS:C0349633|NCIT:C7401|MedDRA:10019054|SCTID:277568007|Orphanet:300878 owl:Class MONDO:0032866 biolink:NamedThing cortical dysplasia, complex, with other brain malformations 10 tmpaxzxjjyw_mondo_relaxed.owl CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10|CDCBM10 OMIM:618677 owl:Class MONDO:0020558 biolink:NamedThing autosomal dominant Charcot-Marie-Tooth disease type 2K Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy. tmpaxzxjjyw_mondo_relaxed.owl CMT2K|Charcot-Marie-Tooth disease type 2K SCTID:719512003|UMLS:C1842984|ICD10:G60.0|OMIM:607831|GARD:0009199|Orphanet:99944|UMLS:C1842983|NCIT:C133886|UMLS:CN207468 owl:Class HGNC:10961 biolink:NamedThing SLCO1B3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008536 biolink:NamedThing temperature-sensitive lethal mutation tmpaxzxjjyw_mondo_relaxed.owl temperature-sensitive lethal mutation OMIM:187340 owl:Class MONDO:0044316 biolink:NamedThing thrombocytopenia, anemia, and myelofibrosis tmpaxzxjjyw_mondo_relaxed.owl thrombocytopenia, anemia, and myelofibrosis|THAMY UMLS:C4479504|OMIM:617441 owl:Class MONDO:0014001 biolink:NamedThing Usher syndrome type 1K An Usher syndrome type 1 that has material basis in variation in the chromosome region 10p11.21-q21.1. tmpaxzxjjyw_mondo_relaxed.owl Usher syndrome type IK|USHER syndrome, type IK|USH1K Orphanet:886|UMLS:C3539124|ICD10:H35.5|DOID:0110837|Orphanet:231169|OMIM:614990 owl:Class MONDO:0000687 biolink:NamedThing diffuse alopecia areata An alopecia areata that involves diffuse loss of hair over the whole scalp. tmpaxzxjjyw_mondo_relaxed.owl Celsus' vitiligo|patchy alopecia|marginal alopecia|alopecia celsi|Cazenave's vitiligo|Jonston's alopecia DOID:0060157|MESH:C531609|SCTID:46586006 owl:Class MONDO:0004563 biolink:NamedThing physiological polycythemia Polycythemia that is not pathologic. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27311|DOID:8431|UMLS:C0856817 owl:Class MONDO:0016610 biolink:NamedThing idiopathic eosinophilic myositis tmpaxzxjjyw_mondo_relaxed.owl idiopathic eosinophilia-associated myopathy Orphanet:247724|ICD10:M60.8 owl:Class MONDO:0012053 biolink:NamedThing aneurysm, intracranial berry, 2 tmpaxzxjjyw_mondo_relaxed.owl ANIB2|aneurysm, intracranial BERRY, 2 Orphanet:231160|UMLS:C1837894|OMIM:608542|MESH:C536360|GARD:0010033 owl:Class MONDO:0019091 biolink:NamedThing bronchopulmonary dysplasia Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring. tmpaxzxjjyw_mondo_relaxed.owl BPD MESH:D001997|GARD:0005962|UMLS:C0006287|NCIT:C90599|MedDRA:10006475|SCTID:67569000|ICD10:P27.1|Orphanet:70589 https://rarediseases.info.nih.gov/diseases/5962/bronchopulmonary-dysplasia owl:Class HGNC:9217 biolink:NamedThing POU3F4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024521 biolink:NamedThing aortic aneurysm, familial abdominal, 1 tmpaxzxjjyw_mondo_relaxed.owl abdominal aortic aneurysm|aortic aneurysm, familial abdominal, 1|AAA1|aneurysm, abdominal aortic UMLS:C0162871|Orphanet:86|OMIM:100070 owl:Class HGNC:16812 biolink:NamedThing COQ8A tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:14921 biolink:NamedThing TAS2R16 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1833 biolink:NamedThing CEBPA tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022804 biolink:NamedThing colobomata unilobar lung heart defect tmpaxzxjjyw_mondo_relaxed.owl GARD:0001442 https://rarediseases.info.nih.gov/diseases/1442/colobomata-unilobar-lung-heart-defect owl:Class MONDO:0001349 biolink:NamedThing odontoclasia tmpaxzxjjyw_mondo_relaxed.owl SCTID:196305005|DOID:11736|UMLS:C0341004|ICD10:K02.4|ICD9:521.05 owl:Class MONDO:0007426 biolink:NamedThing deafness, unilateral tmpaxzxjjyw_mondo_relaxed.owl deafness, unilateral OMIM:125000|MESH:C567079|UMLS:C2607947 owl:Class MONDO:0016078 biolink:NamedThing congenital systemic arteriovenous fistula tmpaxzxjjyw_mondo_relaxed.owl Orphanet:2039|ICD10:Q27.3 owl:Class NCBITaxon:8492 biolink:NamedThing Archosauria tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0004020 biolink:NamedThing mediastinal gray zone lymphoma A mediastinal lymphoma with molecular, morphologic, immunophenotypic, and clinical features of both mediastinal (thymic) large B-cell lymphoma and classical Hodgkin lymphoma. The identification of this group of lymphomas, along with recent gene expression profiling results (PDL2 gene expression in both mediastinal (thymic) large B-cell lymphoma tissues and Hodgkin lymphoma cell lines), further supports the hypothesis that mediastinal (thymic) large B-cell lymphomas and classical Hodgkin lymphomas are related entities. tmpaxzxjjyw_mondo_relaxed.owl mediastinal Gray zone lymphoma|mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma|mediastinal B-cell lymphoma, unclassifiable, with features Intermediate between diffuse large B-cell lymphoma and Classic Hodgkin lymphoma UMLS:C1334657|NCIT:C37870|DOID:6867 owl:Class MONDO:0001745 biolink:NamedThing subserous uterine fibroid tmpaxzxjjyw_mondo_relaxed.owl subserous leiomyoma of uterus SCTID:95280005|ICD10:D25.2|DOID:13560|UMLS:C0153995|ICD9:218.2 owl:Class MONDO:0000912 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 5 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 14q12. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive nonsyndromic deafness type 5|deafness, autosomal recessive 5|autosomal recessive nonsyndromic deafness 5|neurosensory nonsyndromic recessive deafness 5|autosomal recessive deafness 5|DFNB5 MESH:C563444|ICD10:H90.3|OMIM:600792|DOID:0110507|UMLS:C1833319 owl:Class MONDO:0009951 biolink:NamedThing radiculoneuropathy, fatal neonatal tmpaxzxjjyw_mondo_relaxed.owl Radiculoneuropathy, fatal neonatal MESH:C564857|UMLS:C1849471|OMIM:266250 owl:Class MONDO:0007995 biolink:NamedThing microphthalmia, isolated, with cataract 1 tmpaxzxjjyw_mondo_relaxed.owl cataract, congenital, with microphthalmia|microphthalmia, isolated, with cataract 1|congenital cataract with microphthalmia|MCOPCT1|microphthalmia with cataract 1 UMLS:C1834919|MESH:C563582|Orphanet:2542|GARD:0009610|OMIM:156850 owl:Class HGNC:4855 biolink:NamedThing HDC tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:7422 biolink:NamedThing MT-CO3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:1058 biolink:NamedThing BLM tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003564 biolink:NamedThing localized pulmonary fibrosis Replacement of the lung tissue by connective tissue in a specific area of the lung. tmpaxzxjjyw_mondo_relaxed.owl DOID:5642|UMLS:C0340127|NCIT:C27103|SCTID:233726000 owl:Class ENVO:00000017 biolink:NamedThing saline hydrographic feature A geographical feature associated with water with a halinity above 30 ppt (roughly 35 g/L). tmpaxzxjjyw_mondo_relaxed.owl owl:Class ENVO:00000012 biolink:NamedThing hydrographic feature A geographical feature associated with water. tmpaxzxjjyw_mondo_relaxed.owl fluvial feature owl:Class MONDO:0019368 biolink:NamedThing florid cemento-osseous dysplasia Florid cemento-osseous dysplasia (FCOD) is a rare fibro-osseous lesion in the jaw that predominantly affects middle-aged women of African descent. It is generally asymptomatic or may manifest with pain and gingival swelling. Radiologically, it is characterized by multiple dense lobulated bone lesions, often symmetrically located in various regions of the jaw. tmpaxzxjjyw_mondo_relaxed.owl florid osseous dysplasia|focal cemento-osseous dysplasia|Gigantiform cementoma ICD10:D16.5|UMLS:C0555197|GARD:0010173|ICDO:9275/0|MESH:C537063|Orphanet:83451|ICD10:D16.4|SCTID:715634002|NCIT:C8381 https://rarediseases.info.nih.gov/diseases/10173/florid-cemento-osseous-dysplasia owl:Class ENVO:01001143 biolink:NamedThing lava planet A planet which has a surface layer that nearly completely or completely covered by lava, and which has a substantial portion of its mass composed of lava. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019763 biolink:NamedThing laryngotracheoesophageal cleft type 3 Laryngo-tracheo-esophageal cleft (LC) type 3 is a congenital respiratory tract anomaly characterized by a cleft extending through the cricoid cartilage, sometimes into the cervical trachea, with severe swallowing disorders, lung infections and pulmonary damage. tmpaxzxjjyw_mondo_relaxed.owl LTEC3|laryngo-tracheo-esophageal cleft type 3|LTEC III Orphanet:93940|OMIM:215800|ICD10:Q32.1|UMLS:CN206698 owl:Class MONDO:0006874 biolink:NamedThing obstructive jaundice A finding indicating increased bilirubin levels in the blood and urine, due to intrahepatic or extrahepatic obstruction of the biliary system. tmpaxzxjjyw_mondo_relaxed.owl cholestatic jaundice|cholestatic jaundice syndrome|obstructive hyperbilirubinemia MedDRA:10029982|MESH:D041781|EFO:1001068|NCIT:C34742|SCTID:44018007|DOID:13603|UMLS:C0022354 owl:Class MONDO:0020767 biolink:NamedThing cauda equina syndrome with neurogenic bladder A rare neurologic disorder caused by impingement of the nerve roots of the cauda equina secondary to disc herniation, spinal stenosis, vertebral fracture, neoplasm or infection. Clinical signs may include bladder or bowel dysfunction, paresthesia and weakness of the lower extremities. The development of neurogenic bladder implies that surgical decompression was either ineffective, delayed or not attempted. tmpaxzxjjyw_mondo_relaxed.owl Cauda Equina Syndrome with Neurogenic Bladder|Cauda equina syndrome with neurogenic bladder|cauda equina syndrome with neurogenic bladder SCTID:12454008|NCIT:C34453|ICD9:344.61|UMLS:C0007459 owl:Class MONDO:0006430 biolink:NamedThing splenic mantle cell lymphoma A mantle cell lymphoma occurring in the spleen. tmpaxzxjjyw_mondo_relaxed.owl splenic mantle cell lymphoma NCIT:C7306|UMLS:C2018777|EFO:1000549 owl:Class MONDO:0030976 biolink:NamedThing oculomotor-abducens synkinesis tmpaxzxjjyw_mondo_relaxed.owl OCABSN OMIM:619215 owl:Class MONDO:0006809 biolink:NamedThing intracranial embolism Blocking of a blood vessel in the skull by an embolus which can be a blood clot (thrombus) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with heart diseases. Other non-cardiac sources of emboli are usually associated with vascular diseases. tmpaxzxjjyw_mondo_relaxed.owl cerebral embolism|cerebral embolism with cerebral infarction DOID:4372|MESH:D020766|ICD9:434.10|ICD9:434.1|SCTID:75543006|ICD10:I66|EFO:1000991 owl:Class HGNC:11849 biolink:NamedThing TLR3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015495 biolink:NamedThing otomandibular dysplasia associated with monogenic syndromes tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN199632|Orphanet:156202 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: otomandibular dysplasia' MONDO_0015482 owl:Class MONDO:0009201 biolink:NamedThing facial abnormalities, kyphoscoliosis, and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl facial abnormalities, kyphoscoliosis, and mental retardation|facial abnormalities, kyphoscoliosis, and intellectual disability UMLS:C1856893|OMIM:227250|MESH:C565580 owl:Class MONDO:0006842 biolink:NamedThing lymphangiomyoma A neoplasm with perivascular epithelioid cell differentiation, often associated with tuberous sclerosis. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lymph nodes, lung, mediastinum, and retroperitoneum. tmpaxzxjjyw_mondo_relaxed.owl lymphangiomyoma|lymphangioleiomyoma ICDO:9174/0|UMLS:C0024223|MESH:D008203|EFO:1001027|NCIT:C3204 owl:Class MONDO:0009422 biolink:NamedThing hypohidrosis with abnormal palmar dermal Ridges tmpaxzxjjyw_mondo_relaxed.owl sweat gland hypoplasia|hypohidrosis with abnormal palmar dermal Ridges UMLS:C1855856|OMIM:241120|MESH:C565481 owl:Class MONDO:0005624 biolink:NamedThing atrophic thyroiditis Atrophic thyroiditis is an organ-specific autoimmune disease characterized by thyroid autoantibodies, functional hypothyroidism, and absence of goiter. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238183|SCTID:83664006|EFO:0006813 It has been suggested that Hashimoto's thyroiditis, primary myxedema or AT, and Graves’ disease are different expressions of a basically similar autoimmune process, and that the clinical appearance reflects the spectrum of the immune response in the particular patient owl:Class MONDO:0018858 biolink:NamedThing Graham Little-Piccardi-Lassueur syndrome Graham Little-Piccardi-Lassueur syndrome is a variant of lichen planopilaris characterized by the clinical triad of progressive cicatricial (scarring) alopecia of the scalp, follicular keratotic papules on glabrous skin, and variable alopecia of the axillae and groin. tmpaxzxjjyw_mondo_relaxed.owl Graham-Little-Piccardi-Lassueur syndrome|Piccardi-Lassueur-Little syndrome|Graham Little syndrome GARD:0003195|SCTID:718215008|Orphanet:505|UMLS:C0023645|UMLS:CN205176|ICD10:L66.1 https://rarediseases.info.nih.gov/diseases/3195/graham-little-piccardi-lassueur-syndrome owl:Class NCBITaxon:689832 biolink:NamedThing Sedoreovirinae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0000690 biolink:NamedThing body dysmorphic disorder Preoccupations with appearance or self-image causing significant distress or impairment in important areas of functioning. tmpaxzxjjyw_mondo_relaxed.owl body dysmorphia|dysmorphic syndrome|dysmorphophobia SCTID:83482000|ICD10:F45.22|DOID:0060163|MESH:D057215 owl:Class MONDO:0015709 biolink:NamedThing immunodeficiency syndrome with autoimmunity tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN200213|Orphanet:169355 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: immunodeficiency disease' MONDO_0021094 owl:Class MONDO:0010316 biolink:NamedThing FG syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl FG syndrome 3|FGS3 OMIM:300406|GARD:0009924|Orphanet:323|UMLS:C1845567 https://rarediseases.info.nih.gov/diseases/9924/fg-syndrome-3 owl:Class MONDO:0009663 biolink:NamedThing mucus inspissation of respiratory tract tmpaxzxjjyw_mondo_relaxed.owl mucus inspissation of respiratory tract MESH:C565366|OMIM:253240|UMLS:C1854729 owl:Class MONDO:0002552 biolink:NamedThing vascular myelopathy tmpaxzxjjyw_mondo_relaxed.owl vascular myelopathies DOID:320|ICD9:336.1|SCTID:29774004|ICD10:G95.1|UMLS:C0154685 owl:Class MONDO:0012325 biolink:NamedThing Nguyen syndrome tmpaxzxjjyw_mondo_relaxed.owl Nguyen syndrome|MCA/Mr with hypocholesterolemia due to familial hypobetalipoproteinemia|MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia OMIM:609643|MESH:C536115|GARD:0009754|UMLS:C1864823 https://rarediseases.info.nih.gov/diseases/9754/nguyen-syndrome owl:Class MONDO:0010106 biolink:NamedThing testes, rudimentary tmpaxzxjjyw_mondo_relaxed.owl testes, rudimentary OMIM:273150 owl:Class MONDO:0013330 biolink:NamedThing agenesis of the corpus callosum and congenital lymphedema tmpaxzxjjyw_mondo_relaxed.owl agenesis of the corpus callosum and congenital lymphedema OMIM:613623|UMLS:C3150887 owl:Class MONDO:0012965 biolink:NamedThing seizures, benign familial infantile, 4 tmpaxzxjjyw_mondo_relaxed.owl seizures, benign familial infantile, 4|BFIS4|convulsions, benign familial infantile, 4 MESH:C567231|Orphanet:306|UMLS:C2675462|OMIM:612627 owl:Class MONDO:0013668 biolink:NamedThing tetrasomy 18p Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations. tmpaxzxjjyw_mondo_relaxed.owl chromosome 18p tetrasomy|Isochromosome 18P syndrome|tetrasomy 18p|Isochromosome 18p|tetrasomy chromosome 18p|tetrasomy type 18P|tetrasomy type 18p GARD:0000035|MESH:C538306|OMIM:614290|ICD10:Q99.8|SCTID:698849002|UMLS:C0795868|ICD9:758.89|Orphanet:3307 owl:Class MONDO:0008109 biolink:NamedThing ocular cicatricial pemphigoid Ocular cicatricial pemphigoid (OCP) is a form of mucous membrane pemphigoid (a group of rare, chronic autoimmune disorders) that affects the eyes. In the early stages, people with OCPgenerally experience chronic or relapsing conjunctivitis that is often characterized by tearing, irritation, burning, and/or mucus drainage. If left untreated, OCP can progress to severe conjunctiva scarring and vision loss. Involvement of other mucosal sites and the skin may also occur in OCP. The exact underlying cause is currently unknown. The treatment of OCP aims to slow disease progression and prevent complications. This usually involves long-term use of medications called immunomodulators which help regulate or normalize the immune system. tmpaxzxjjyw_mondo_relaxed.owl ocular cicatricial pemphigoid|cicatricial pemphigoid, ocular|OCP|pemphigoid, ocular cicatricial GARD:0008759|OMIM:164185|NCIT:C84939|EFO:0008610|Orphanet:46486|SCTID:314757003|UMLS:C1282359 https://rarediseases.info.nih.gov/diseases/8759/ocular-cicatricial-pemphigoid owl:Class MONDO:0016819 biolink:NamedThing Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome This syndrome is characterized by the association of MC6bius syndrome (congenital facial palsy with impaired ocular abduction) with peripheral axonal neuropathy and hypogonadotropic hypogonadism. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:2560|UMLS:C2931024 owl:Class MONDO:0008010 biolink:NamedThing antigen defined by monoclonal antibody Aj9 tmpaxzxjjyw_mondo_relaxed.owl Msk1|antigen defined by monoclonal antibody Aj9 OMIM:158030 owl:Class GO:0005592 biolink:NamedThing collagen type XI trimer A collagen heterotrimer containing type XI alpha chains in alpha1(XI)alpha2(XI)alpha3(XI) trimers; type XI collagen triple helices associate to form fibrils. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001863 biolink:NamedThing aorta atresia An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. tmpaxzxjjyw_mondo_relaxed.owl congenital atresia and stenosis of aorta|atresia and stenosis of aorta ICD10:Q25.2|DOID:14037|ICD9:747.22|SCTID:204431007 owl:Class MONDO:0020476 biolink:NamedThing mesial temporal lobe epilepsy with hippocampal sclerosis Mesial temporal lobe epilepsy with hippocampal sclerosis is a rare epilepsy syndrome defined by seizures originating in limbic areas of the mesial temporal lobe, particularly in the hippocampus, amygdala, and in the parahippocampal gyrus and its connections, and hippocampal sclerosis, usually unilateral or assymetric. It is frequently associated with an initial precipitating event, such as febrile seizures, hypoxia, intracranial infection or head trauma, most often occurring in the first five years of life, followed by a latent period without seizures. Typical seizures consist of a characteristic aura that is frequently a rising epigastric sensation associated with emotional disturbances, illusions, and autonomic symptoms (widened pupils, palpitations), progressive impairment of consciousness, oro-alimentary automatisms (lip smacking, chewing, licking, tooth grinding), behavioral arrest, head deviation, dystonic postures, hand and verbal automatisms. Seizures are followed by postictal dysfunction. Initially, seizures are easily controlled with antiepileptic drugs, later they frequently become refractory and associated with progressive behavioral changes and memory deficits. tmpaxzxjjyw_mondo_relaxed.owl MTLE-HS Orphanet:99701 owl:Class MONDO:0054843 biolink:NamedThing ciliary dyskinesia, primary, 38 tmpaxzxjjyw_mondo_relaxed.owl ciliary dyskinesia, PRIMARY, 38|ciliary dyskinesia, Primary, 38, with or without situs inversus|CILD38 UMLS:CN252651|OMIM:618063 owl:Class UBERON:0015783 biolink:NamedThing smooth muscle layer in fatty layer of subcutaneous tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0019775 biolink:NamedThing Chudley-Lowry-Hoar syndrome Chudley-Lowry syndrome is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation-hypotonic facies). tmpaxzxjjyw_mondo_relaxed.owl Chudley intellectual disability syndrome|intellectual disability-hypotonic facies syndrome X-linked, 1|SFM1|Chudley Lowry Hoar syndrome|Chudley syndrome 1|Chudley-Lowry syndrome|Smith Fineman Myers syndrome 1|mental retardation-hypotonic facies syndrome X-linked, 1|Chudley mental retardation syndrome OMIM:309580|GARD:0001357|Orphanet:93971|UMLS:CN206716|SCTID:717763008 owl:Class MONDO:0012740 biolink:NamedThing chromosome 22q11.2 deletion syndrome, distal Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 22 with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours. tmpaxzxjjyw_mondo_relaxed.owl chromosome 22q11.2 deletion syndrome, distal|distal 22q11.2 microdeletion syndrome|distal chromosome 22Q11.2 deletion syndrome|distal del(22)(q11.2)|distal monosomy 22q11.2 DOID:0060413|UMLS:C4518343|OMIM:611867|MESH:C567511|SCTID:734029004|UMLS:C2678480|ICD10:Q93.5|Orphanet:261330 owl:Class MONDO:0008181 biolink:NamedThing palmaris longus muscle, absence of tmpaxzxjjyw_mondo_relaxed.owl palmaris longus muscle, absence of OMIM:167600 owl:Class MONDO:0005203 biolink:NamedThing ischemia reperfusion injury Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (reperfusion), including swelling; hemorrhage; necrosis; and damage from free radicals. The most common instance is myocardial reperfusion injury. tmpaxzxjjyw_mondo_relaxed.owl MESH:D015427|PMID:10685060|EFO:0002687 owl:Class MONDO:0011973 biolink:NamedThing zinc deficiency, transient neonatal tmpaxzxjjyw_mondo_relaxed.owl zinc deficiency, neonatal, due to Low breast milk zinc|zinc deficiency, transient neonatal|zinc in breast milk, reduced|TNZD UMLS:C1842486|OMIM:608118|MESH:C564286 owl:Class MONDO:0015421 biolink:NamedThing orofaciodigital syndrome type 12 Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated. tmpaxzxjjyw_mondo_relaxed.owl orofaciodigital syndrome XII|OFDS 12|oral-facial-digital syndrome type 12|orofaciodigital syndrome 12|oral-facial-digital syndrome 12|OFD12|oral facial digital syndrome 12|Moran-Barroso syndrome|oral facial digital syndrome type 12 SCTID:763834000|GARD:0010693|Orphanet:141327|MESH:C548034|UMLS:C2932679|ICD10:Q87.0 owl:Class HGNC:20499 biolink:NamedThing L2HGDH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022435 biolink:NamedThing Mauriac syndrome A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features. tmpaxzxjjyw_mondo_relaxed.owl Mauriac's syndrome|dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome|Mauriac syndrome GTR:AN0543843|NCIT:C130997|ICD9:258.1|UMLS:C0221005|SCTID:80660001|GTR:AN0543890 owl:Class MONDO:0017534 biolink:NamedThing postaxial polydactyly type B, bilateral tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203265|ICD10:Q69.0|Orphanet:295169 owl:Class MONDO:0032526 biolink:NamedThing spinocerebellar ataxia 48 tmpaxzxjjyw_mondo_relaxed.owl SCA48|SPINOCEREBELLAR ATAXIA 48 OMIM:618093|DOID:0111746 owl:Class MONDO:0018673 biolink:NamedThing IgG4-related pachymeningitis Idiopathic hypertrophic pachymeningitis (IHP) is a rare disorder causing inflammation and thickening of the outer layer (dura) of the brain and/or spinal cord. IHP can be widespread or cause tumor-like lesions. Before IHP can be diagnosed, other conditions including sarcoidosis, tumors, meningioma, infections (syphilis, tuberculosis, and Lyme disease), and autoimmune diseases (rheumatoid arthritis, Sjogrenbs syndrome, Wegenerbs granulomatosis, and IgG4-related disease) must be ruled out. IHP often presents with headache and cranial nerve impairment. Treatment may involve prednisone and/or an immune suppressing drug. This treatment often improves symptoms, however complete recovery is rare. Surgery may be recommended for people with advanced or severe IHP. Some people with IHP have no symptoms and may not need treatment. tmpaxzxjjyw_mondo_relaxed.owl idiopathic hypertrophic cranial pachymeningitis|idiopathic hypertrophic spinal pachymeningitis|idiopathic hypertrophic craniospinal pachymeningitis|idiopathic hypertrophic pachymeningitis GARD:0013256|ICD10:G03.9|Orphanet:449427|SCTID:762282007|UMLS:C4545992 owl:Class HGNC:7671 biolink:NamedThing NCOA4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017155 biolink:NamedThing pulmonary arterial hypertension associated with schistosomiasis Pulmonary arterial hypertension associated with schistosomiasis (PAHS) is a form of pulmonary arterial hypertension characterized by an elevated pulmonary arterial resistance leading to right heart failure, observed as a complication of a chronic schistosomiasis. tmpaxzxjjyw_mondo_relaxed.owl PAH associated with schistosomiasis 2022-03-01 SCTID:697907008|UMLS:C3697477|ICD10:I27.2|Orphanet:275823|ICD9:416.8|EFO:0009198 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: pulmonary arterial hypertension' MONDO_0015924 owl:Class MONDO:0012007 biolink:NamedThing scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities tmpaxzxjjyw_mondo_relaxed.owl anomalous pulmonary Venous return, multiple Cardiac malformations, and craniofacial and central nervous system abnormalities|scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities UMLS:C1842315|MESH:C564262|OMIM:608281 owl:Class ECTO:7000114 biolink:NamedThing exposure to aerosol A exposure event involving the interaction of an exposure receptor to aerosol. tmpaxzxjjyw_mondo_relaxed.owl aerosol exposure owl:Class MONDO:0032656 biolink:NamedThing microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum tmpaxzxjjyw_mondo_relaxed.owl MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM|MCIDDS OMIM:618284 owl:Class MONDO:0022430 biolink:NamedThing persistent fetal circulation syndrome A cardiopulmonary disorder characterized by systemic arterial hypoxemia secondary to pulmonary hypertension and extrapulmonary right to left shunting across the foramen ovale and ductus arteriosus. tmpaxzxjjyw_mondo_relaxed.owl persistent fetal circulation|persistent pulmonary hypertension of the newborn|PPHN NCIT:C85006|SCTID:233815004 Editor note: consider relationship to MONDO:0009934 owl:Class MONDO:0003462 biolink:NamedThing papillary adenofibroma A biphasic polypoid neoplasm characterized by the presence of papillary projections that are lined by epithelial cells and fibrotic stroma. tmpaxzxjjyw_mondo_relaxed.owl papillary adenofibroma NCIT:C8986|UMLS:C1377850|DOID:5479 owl:Class MONDO:0007130 biolink:NamedThing congenital total pulmonary venous return anomaly Total pulmonary venous return (TAPVR) is a form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure. tmpaxzxjjyw_mondo_relaxed.owl anomalous pulmonary Venous return|total anomalous pulmonary VENOUS return 1|scimitar syndrome|pulmonary venolobar syndrome|TAPVR1|total anomalous pulmonary venous return|TAPVR|scimitar anomaly DOID:4297|NCIT:C85056|SCTID:39905002|OMIM:106700|SCTID:111323005|EFO:1001167|ICD9:747.41|ICD10:Q26.2|Orphanet:99125|UMLS:C0036400|ICD10:Q26.8|MESH:D012587|NCIT:C98585 owl:Class MONDO:0004540 biolink:NamedThing epithelioid malignant peripheral nerve sheath tumor A rare variant of malignant peripheral nerve sheath tumor composed predominantly or exclusively of epithelioid cells. tmpaxzxjjyw_mondo_relaxed.owl epithelioid MPNST|malignant epithelioid tumor of peripheral nerve sheath|malignant epithelioid peripheral nerve sheath tumor|malignant epithelioid neoplasm of peripheral nerve sheath|malignant epithelioid tumor of the peripheral nerve sheath|epithelioid malignant peripheral nerve sheath tumor|malignant epithelioid neoplasm of the peripheral nerve sheath|malignant epithelioid peripheral nerve sheath neoplasm UMLS:C1321427|EFO:1000245|NCIT:C6561|DOID:8353|SCTID:404038007 owl:Class MONDO:0008257 biolink:NamedThing platelet responsiveness to adrenaline, depressed tmpaxzxjjyw_mondo_relaxed.owl platelet responsiveness to adrenaline, depressed OMIM:173580 owl:Class MONDO:0018355 biolink:NamedThing SIM1-related Prader-Willi-like syndrome tmpaxzxjjyw_mondo_relaxed.owl PWS-like due to a point mutation|Prader-Willi-like syndrome due to a point mutation|SIM1-related PWLS|PWS-like due to point mutation UMLS:CN226095|ICD10:Q87.1|Orphanet:398079 owl:Class MONDO:0001695 biolink:NamedThing senile ectropion tmpaxzxjjyw_mondo_relaxed.owl involutional ectropion SCTID:71659009|ICD9:374.11|DOID:13356|UMLS:C0155193 owl:Class MONDO:0011749 biolink:NamedThing oculocutaneous albinism type 1B Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves. tmpaxzxjjyw_mondo_relaxed.owl oculocutaneous albinism, Amish type|platinum oculocutaneous albinism|Yellow albinism|albinism, oculocutaneous, type IB|oculocutaneous albinism, type 1B|OCA1B|Yellow mutant albinism|Oca1-Ts|albinism, oculocutaneous, type 1B|albinism, oculocutaneous, type I, temperature-sensitive|Yellow oculocutaneous albinism|oculocutaneous albinism type IB|albinism, Yellow mutant type MESH:C537729|DOID:0070095|GARD:0000594|OMIM:606952|Orphanet:352731|UMLS:C1847132|UMLS:C1847024|Orphanet:79434|ICD10:E70.3|Orphanet:352737 https://rarediseases.info.nih.gov/diseases/594/oculocutaneous-albinism-type-1b owl:Class MONDO:0020464 biolink:NamedThing euryblepharon Euryblepharon is a rare congenital eyelid anomaly of unknown etiology characterized by the bilateral horizontal enlargement of the palpebral fissure with vertically shortened eyelids, lateral canthus malpositioning and lateral ectropion. It may be isolated or associated with other ocular anomalies (e.g. strabismus or telecanthus) or systemic anomalies (e.g. blepharo-cheilo-odontic syndrome). In severe cases, it may result in lagophthalmos and exposure keratopathy, requiring surgical treatment. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207327|SCTID:400954002|ICD10:Q10.1|Orphanet:99172 owl:Class CL:2000052 biolink:NamedThing umbilical artery endothelial cell Any endothelial cell of artery that is part of a umbilical cord. tmpaxzxjjyw_mondo_relaxed.owl http://www.sciencellonline.com/site/productInformation.php?keyword=8010 TermGenie 2014-10-06T19:01:48Z cell owl:Class MONDO:0045037 biolink:NamedThing hyalohyphomycosis An opportunistic infection caused by a heterogeneous group of mitosporic fungi with clear (hyalo-) hyphae in the host. Common causative agents include acremonium; aspergillus; chrysosporium; fusarium; paecilomyces; penicillium; pseudallescheria; scedosporium; and scopulariopsis. Normally a dermatomycoses, it can become invasive in the immunocompromised host. tmpaxzxjjyw_mondo_relaxed.owl hyalohyphomycosis SCTID:240773008|UMLS:C0343952|MESH:D060605 owl:Class MONDO:0004780 biolink:NamedThing strictly posterior acute myocardial infarction tmpaxzxjjyw_mondo_relaxed.owl ICD9:410.60|DOID:9407 owl:Class MONDO:0022863 biolink:NamedThing corneal crystals myopathy neuropathy tmpaxzxjjyw_mondo_relaxed.owl GARD:0001526 https://rarediseases.info.nih.gov/diseases/1526/corneal-crystals-myopathy-neuropathy owl:Class MONDO:0010599 biolink:NamedThing granulomas, congenital cerebral tmpaxzxjjyw_mondo_relaxed.owl congenital cerebral granulomas|granulomas, congenital cerebral UMLS:C1844406|MESH:C537294|OMIM:306300|GARD:0008368 https://rarediseases.info.nih.gov/diseases/8368/granulomas-congenital-cerebral owl:Class MONDO:0020432 biolink:NamedThing ectasia of the right atrial appendage Ectasia of the right atrial appendage is a rare cardiac malformation characterized by the enlargement of the right auricle without any other associated cardiac lesions. It can be asymptomatic and diagnosed fortuitously, prenatally or during routine clinical examinations or it can present with heart murmur, palpitation, atrial arrhythmia, fatigue, dyspnea or respiratory distress. tmpaxzxjjyw_mondo_relaxed.owl dilatation of the right atrial auricle|ectasia of the right atrial auricle|dilatation of the right atrial appendage ICD10:Q20.8|Orphanet:99101 owl:Class MONDO:0006132 biolink:NamedThing cervical adenoid basal carcinoma A rare low grade carcinoma that arises from the cervix. It is characterized by the presence of nests of basaloid cells with focal glandular formations. tmpaxzxjjyw_mondo_relaxed.owl cervical adenoid basal cancer ONCOTREE:CABC|UMLS:C1516403|DOID:6428|EFO:1000160|NCIT:C40213 owl:Class MONDO:0013246 biolink:NamedThing fatty liver disease, nonalcoholic, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl NAFLD2|fatty liver disease, nonalcoholic, susceptibility to, 2 OMIM:613387 owl:Class MONDO:0002946 biolink:NamedThing gynatresia A congenital or acquired occlusion of an opening in any part of the female genital tract. tmpaxzxjjyw_mondo_relaxed.owl EFO:1001335|NCIT:C84743|UMLS:C0018414|DOID:429|MESH:D006175 owl:Class MONDO:0007957 biolink:NamedThing mediosternal depigmentation line tmpaxzxjjyw_mondo_relaxed.owl mediosternal depigmentation line OMIM:155200 owl:Class HGNC:10660 biolink:NamedThing SDC3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0006738 biolink:NamedThing eccrine acrospiroma A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors. tmpaxzxjjyw_mondo_relaxed.owl eccrine Acrospiromas|Hidradrenomas, nodular|nodular Hidradrenomas|solid-cystic hidradenoma|solid cystic hidradenoma|clear-cell Hidradrenomas|Hidradenomas, solid-cystic|poroma|acrospiromas|eccrine hidradenoma|hidradenoma|acrospiromas, eccrine|Hidradrenoma, clear-cell|Hidradenomas|poroma/acrospiroma|hidradenoma, solid-cystic|poroma (acrospiroma)|Hidradrenoma, nodular|clear cell Hidradrenoma|eccrine hidradenoma of skin|Hidradrenomas, clear-cell|solid-cystic Hidradenomas|clear-cell Hidradrenoma|eccrine poroma|acrospiroma, eccrine|nodular Hidradrenoma|eccrine acrospiroma SCTID:400099008|MESH:D018250|NCIT:C27273|DOID:5442|ONCOTREE:PORO|EFO:1000912|GARD:0005726 owl:Class MONDO:0030005 biolink:NamedThing epilepsy, early-onset, with or without developmental delay tmpaxzxjjyw_mondo_relaxed.owl EPEDD|epilepsy, early-onset, with or without developmental delay|EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY OMIM:618832 owl:Class MONDO:0003889 biolink:NamedThing infiltrating bladder urothelial carcinoma, clear cell variant An invasive transitional cell carcinoma of the bladder characterized by the presence of clear cells. tmpaxzxjjyw_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, clear cell variant|clear cell variant infiltrating bladder urothelial carcinoma NCIT:C39827|DOID:6476|UMLS:C1512737 owl:Class MONDO:0004819 biolink:NamedThing indolent plasma cell myeloma tmpaxzxjjyw_mondo_relaxed.owl indolent multiple myeloma|indolent myeloma|indolent plasma cell myeloma NCIT:C7150|DOID:9550|SCTID:441313008|UMLS:C2049069 owl:Class HGNC:3583 biolink:NamedThing FANCB tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001596 biolink:NamedThing hypochondriasis A somatoform disorder in which an individual is preoccupied with having a serious illness despite not having been given a corroborating diagnosis. tmpaxzxjjyw_mondo_relaxed.owl hypochondriacal neurosis|hypochondria|hypochondriacal disorder NCIT:C9493|ICD9:300.7|ICD10:F45.2|DOID:12883|SCTID:18193002|MESH:D006998|ICD10:F45.21 owl:Class MONDO:0010367 biolink:NamedThing SHOX-related short stature SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never. tmpaxzxjjyw_mondo_relaxed.owl short stature, idiopathic, X-linked|ISS Orphanet:314795|MESH:C564479|EFO:0008989|ICD10:Q87.1|OMIM:300582|SCTID:763868006 owl:Class MONDO:0030032 biolink:NamedThing chromosome 17q11.2 duplication syndrome, 1.4-mb tmpaxzxjjyw_mondo_relaxed.owl CHROMOSOME 17q11.2 DUPLICATION SYNDROME, 1.4-MB|Nf1 Microduplication Syndrome 2022-04-01 OMIM:618874 Reason: duplicate. This will be merged with MONDO:0015350 17q11.2 microduplication syndrome owl:Class MONDO:0016709 biolink:NamedThing anaplastic/large cell medulloblastoma A medulloblastoma composed of sheets of large cells mixed with cells characterized by marked nuclear pleomorphism and high mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl large cell/anaplastic medulloblastoma ONCOTREE:AMBL|UMLS:C4330531|ICD10:C71.6|NCIT:C129436|Orphanet:251855 owl:Class MONDO:0001861 biolink:NamedThing malignant parietal pleura tumor tmpaxzxjjyw_mondo_relaxed.owl primary malignant neoplasm of parietal pleura DOID:14032|SCTID:93948004|UMLS:C0153495 owl:Class MONDO:0017567 biolink:NamedThing macrodactyly of toes, bilateral tmpaxzxjjyw_mondo_relaxed.owl macrodactyly of foot, bilateral Orphanet:295245|ICD10:Q74.2 owl:Class MONDO:0009197 biolink:NamedThing transient erythroblastopenia of childhood An acquired pure red cell aplasia that is self-limited. It is the most common cause of decreased red blood cell production in the pediatric population, and typically presents as a normocytic anemia with reticulocytopenia in an otherwise asymptomatic and normal child with no evidence of other causes for anemia, including blood loss, hemolysis, nutritional deficiency, or malignancy. tmpaxzxjjyw_mondo_relaxed.owl tec|familial transient erythroblastopenia of childhood|transient acquired pure red cell aplasia|transient erythroblastopenia of childhood|erythroblastopenia, transient ICD9:284.81|GARD:0007793|OMIM:227050|ICD10:D60.1|UMLS:C0451688|Orphanet:98871|MESH:C536980|NCIT:C131683|SCTID:191255003|UMLS:C0238478 https://rarediseases.info.nih.gov/diseases/7793/transient-erythroblastopenia-of-childhood owl:Class MONDO:0013980 biolink:NamedThing palmoplantar keratoderma, punctate type ib tmpaxzxjjyw_mondo_relaxed.owl PPKP1B|palmoplantar keratoderma, punctate type IB Orphanet:79501|UMLS:C3554145|OMIM:614936 owl:Class MONDO:0003317 biolink:NamedThing metachronous kidney Wilms' tumor Wilms tumor arising in the remaining kidney following treatment of the original Wilms tumor. tmpaxzxjjyw_mondo_relaxed.owl metachronous Wilms tumor|metachronous Wilms' tumor|metachronous Wilms tumor of the kidney UMLS:C1334705|DOID:5178|NCIT:C38158 owl:Class MONDO:0001638 biolink:NamedThing protein-deficiency anemia tmpaxzxjjyw_mondo_relaxed.owl anemia due to protein deficiency SCTID:191156009|DOID:13120|ICD9:281.4|UMLS:C0154290|ICD10:D53.0 owl:Class MONDO:0012072 biolink:NamedThing familial partial lipodystrophy, Kobberling type Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy (FPLD) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant. tmpaxzxjjyw_mondo_relaxed.owl familial partial lipodystrophy, Köbberling type|lipodystrophy, familial partial, type 1|FPLD1|familial partial lipodystrophy type Köbberling|lipodystrophy, familial partial, Kobberling type|familial partial lipodystrophy type 1 OMIM:608600|DOID:0070207|ICD10:E88.1|SCTID:725035001|GARD:0012598|Orphanet:79084 owl:Class MONDO:0016782 biolink:NamedThing paternal 14q32.2 hypomethylation syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:254531|UMLS:CN202038 owl:Class MONDO:0019895 biolink:NamedThing distal monosomy 4q tmpaxzxjjyw_mondo_relaxed.owl distal deletion 4q|distal monosomy type 4q|monosomy 4qter|telomeric deletion 4q Orphanet:96145|ICD10:Q93.5 owl:Class MONDO:0019659 biolink:NamedThing Pfeiffer syndrome type 1 Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development. tmpaxzxjjyw_mondo_relaxed.owl classic Pfeiffer syndrome|Pfeiffer syndrome type 1 ICD10:Q87.0|UMLS:CN206533|Orphanet:93258 owl:Class MONDO:0019892 biolink:NamedThing distal monosomy 7p tmpaxzxjjyw_mondo_relaxed.owl distal monosomy type 7p|telomeric deletion 7p|distal deletion 7p|monosomy 7pter ICD10:Q93.5|Orphanet:96126 owl:Class MONDO:0100185 biolink:NamedThing immune reconstitution inflammatory syndrome An inflammatory condition that arises after initiating antiretroviral therapy (ART) therapy in HIV-infected patients that results from restored immunity to specific infectious or non-infectious antigens. tmpaxzxjjyw_mondo_relaxed.owl IRS|immune reconstitution inflammatory syndrome associated with Kaposi sarcoma|immune restoration disease|IRIS|IRD|immune reconstitution syndrome http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0013858 biolink:NamedThing pontine tegmental cap dysplasia Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation. tmpaxzxjjyw_mondo_relaxed.owl pontine tegmental cap dysplasia|PTCD|PONTINE tegmental CAP dysplasia GARD:0010919|OMIM:614688|UMLS:C3541340|Orphanet:269229|ICD10:Q04.8 https://rarediseases.info.nih.gov/diseases/10919/pontine-tegmental-cap-dysplasia owl:Class HP:0200042 biolink:NamedThing Skin ulcer A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. tmpaxzxjjyw_mondo_relaxed.owl Open skin sore MSH:D012883|SNOMEDCT_US:46742003|UMLS:C0037299|MEDDRA:10040943 sebastiankohler 2010-06-18T02:17:00Z human_phenotype owl:Class MONDO:0006323 biolink:NamedThing non-seminomatous lesion A group of testicular cancers that begin in the germ cells (cells that give rise to sperm). Nonseminomas are identified by the type of cell in which they begin and include embryonal carcinoma, teratoma, choriocarcinoma, and yolk sac carcinoma. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36127|EFO:1000401 owl:Class MONDO:0010710 biolink:NamedThing Pierre Robin syndrome-faciodigital anomaly syndrome This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal. tmpaxzxjjyw_mondo_relaxed.owl Robin sequence with facial and digital anomalies|Chitayat-Meunier-Hodgkinson syndrome|Pierre Robin syndrome, faciodigital anomaly|Chitayat Meunier Hodgkinson syndrome|Pierre Robin sequence-faciodigital anomaly syndrome|Pierre Robin sequence with facial and digital anomalies ICD10:Q87.8|UMLS:C2931064|Orphanet:2888|MESH:C535926|OMIM:311895|SCTID:723461007|GARD:0001274 https://rarediseases.info.nih.gov/diseases/1274/chitayat-meunier-hodgkinson-syndrome owl:Class MONDO:0015710 biolink:NamedThing immune dysregulation disease with immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:169361|UMLS:CN200214 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary immunodeficiency due to a defect in adaptive immunity' MONDO_0015823 owl:Class MONDO:0010411 biolink:NamedThing pyloric stenosis, infantile hypertrophic, 4 tmpaxzxjjyw_mondo_relaxed.owl IHPS4|pyloric stenosis, infantile hypertrophic, 4 UMLS:C2678037|MESH:C567472|OMIM:300711 owl:Class MONDO:0026732 biolink:NamedThing hypothyroidism, congenital, nongoitrous, 9 tmpaxzxjjyw_mondo_relaxed.owl HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 9|CHNG9 OMIM:301035 owl:Class GO:0016778 biolink:NamedThing diphosphotransferase activity Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:39317 biolink:NamedThing growth regulator Any chemical substance that inhibits the life-cycle of an organism. tmpaxzxjjyw_mondo_relaxed.owl growth regulators owl:Class GO:0003030 biolink:NamedThing detection of hydrogen ion The series of events in which a hydrogen ion stimulus is received by a cell and converted into a molecular signal. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0014219 biolink:NamedThing alacrima, achalasia, and intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl GMPPA-CDG|alacrima, achalasia, and mental retardation syndrome|alacrima, achalasia, and intellectual disability syndrome|AAMR OMIM:615510|UMLS:C3809738|GARD:0012404|Orphanet:869 owl:Class MONDO:0043317 biolink:NamedThing amyopathic dermatomyositis Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typicalskin findingswithout muscle weakness.Some of the skinchanges that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair.While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included.Fatigue is reported in at least 50% of patients. Some cases have beenassociated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin. tmpaxzxjjyw_mondo_relaxed.owl dermatomyositis sine myositis|amyopathic dermatomyositis|ADM SCTID:238935002|GARD:0009907|Orphanet:221|UMLS:C0406645|MESH:C538250 owl:Class MONDO:0011618 biolink:NamedThing liver fibrocystic disease and polydactyly tmpaxzxjjyw_mondo_relaxed.owl liver fibrocystic disease and polydactyly MESH:C565272|UMLS:C1853827|OMIM:605944 owl:Class MONDO:0022865 biolink:NamedThing corneal dystrophy ichthyosis microcephaly intellectual disability tmpaxzxjjyw_mondo_relaxed.owl GARD:0001528 https://rarediseases.info.nih.gov/diseases/1528/corneal-dystrophy-ichthyosis-microcephaly-mental-retardation owl:Class MONDO:0030020 biolink:NamedThing combined oxidative phosphorylation deficiency 44 tmpaxzxjjyw_mondo_relaxed.owl combined oxidative phosphorylation deficiency 44|COXPD44|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 OMIM:618855 owl:Class MONDO:0006692 biolink:NamedThing central pontine myelinolysis A central nervous system disorder caused by demyelination within the central basis pontis of the brain. It is characterized by spastic quadriplegia, pseudobulbar palsy and encephalopathy. It is observed in patients with severe hyponatremia, particularly when the hyponatremia is corrected too rapidly. tmpaxzxjjyw_mondo_relaxed.owl osmotic demyelination syndrome GARD:0008749|ICD9:341.8|NCIT:C84623|ICD10:G37.2|SCTID:6807001|MESH:D017590|DOID:636|MedDRA:10007968|EFO:1000857|UMLS:C0206083 owl:Class MONDO:0001276 biolink:NamedThing expressive language disorder A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult). tmpaxzxjjyw_mondo_relaxed.owl expressive language disorder|developmental expressive language disorder SCTID:229733002|ICD10:F80.1|NCIT:C92562|ICD9:315.31|DOID:11385 owl:Class OBO:CARO_0001010 biolink:NamedThing organism or virus or viroid tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030047 biolink:NamedThing microcephaly, developmental delay, and brittle hair syndrome tmpaxzxjjyw_mondo_relaxed.owl microcephaly, developmental delay, and brittle hair syndrome|MDBH|MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME OMIM:618891 owl:Class MONDO:0001015 biolink:NamedThing eosinophilic meningitis Meningitis in which eosinophils predominate in the cerebrospinal fluid. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154652|DOID:10361|ICD9:322.1|NCIT:C128374|SCTID:25671008 owl:Class MONDO:0001207 biolink:NamedThing neonatal respiratory failure tmpaxzxjjyw_mondo_relaxed.owl respiratory failure of newborn ICD9:770.84|SCTID:95619009|DOID:11161|UMLS:C0521648|ICD10:P28.5 owl:Class MONDO:0016554 biolink:NamedThing neonatal iodine exposure Neonatal iodine exposure is a rare endocrine disease characterized by the appearance of transient hypothyroidism, usually in preterm newborns, following long or short-term topical iodine exposure. Parenteral exposure from iodinated contrast agents may similarly alter thyroid funtion in term neonates. tmpaxzxjjyw_mondo_relaxed.owl iodine antenatal exposure UMLS:CN226956|Orphanet:238688|ICD10:P72.2|GARD:0003025 owl:Class HP:0000036 biolink:NamedThing Abnormal penis morphology Abnormality of the male external sex organ. tmpaxzxjjyw_mondo_relaxed.owl Abnormality of the penis UMLS:C4025896 human_phenotype owl:Class MONDO:0001391 biolink:NamedThing indeterminate leprosy A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. tmpaxzxjjyw_mondo_relaxed.owl indeterminate leprosy [group I]|uncharacteristic leprosy SCTID:14386001|ICD9:030.2|ICD10:A30.0|UMLS:C0021192|DOID:11851 owl:Class MONDO:0025449 biolink:NamedThing paratuberculosis A chronic gastroenteritis in ruminants caused by mycobacterium avium subspecies paratuberculosis. tmpaxzxjjyw_mondo_relaxed.owl Paratuberculoses|Johne's disease|Johnes disease|Johne disease|disease, Johne's|disease, Johne UMLS:C0030524|MESH:D010283 owl:Class MONDO:0009526 biolink:NamedThing fibular aplasia, tibial campomelia, and oligosyndactyly syndrome tmpaxzxjjyw_mondo_relaxed.owl fibular aplasia-tibial campomelia-oligosyndactyly syndrome|FATCO syndrome|fibular aplasia, tibial campomelia, and oligosyndactyly syndrome|limb deficiency-heart malformation syndrome|terminal transverse defects of the limbs associated with congenital heart malformations UMLS:CN776928|Orphanet:480773|GARD:0002622|UMLS:C1855499|OMIM:246570 owl:Class MONDO:0006653 biolink:NamedThing anthracosilicosis Fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath. tmpaxzxjjyw_mondo_relaxed.owl MESH:D000874|ICD10:J60|UMLS:C0003164|MedDRA:10050363|DOID:10324|CSP:2596-4484|EFO:1000813|NCIT:C34389|SCTID:33548005 owl:Class MONDO:0022697 biolink:NamedThing athetoid cerebral palsy A subtype of cerebral palsy characterized by involuntary, purposeless writhing movements which affect the hands, feet, arms, and legs; the face and tongue may be affected as well, leading to involuntary grimacing, drooling, dysarthria and difficulty eating. tmpaxzxjjyw_mondo_relaxed.owl ADCP|dyskinetic cerebral palsy|cerebral palsy dyskinetic|athetoid dyskinetic cerebral palsy|athetoid cerebral palsy GARD:0010449|ICD10:G80.3|DOID:0050672|SCTID:75019001|UMLS:C0270742|SCTID:230780007|NCIT:C97169 https://rarediseases.info.nih.gov/diseases/10449/cerebral-palsy-athetoid owl:Class MONDO:0020847 biolink:NamedThing intellectual disability, autosomal dominant 58 tmpaxzxjjyw_mondo_relaxed.owl MENTAL RETARDATION, autosomal dominant 58|MRD58 OMIM:618106 owl:Class HGNC:3663 biolink:NamedThing FGD1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CL:2000016 biolink:NamedThing lung microvascular endothelial cell Any lung endothelial cell that is part of a microvascular endothelium. tmpaxzxjjyw_mondo_relaxed.owl TermGenie 2014-06-04T16:00:56Z cell owl:Class MONDO:0004301 biolink:NamedThing fibrosarcomatous osteosarcoma A conventional osteosarcoma characterized by the presence of spindle shaped cells. tmpaxzxjjyw_mondo_relaxed.owl FIOS|fibroblastic osteosarcoma|fibroblastic osteosarcoma (morphologic abnormality)|fibroblastic osteogenic sarcoma|fibrosarcomatous osteogenic sarcoma|fibrosarcomatous osteosarcoma UMLS:C0279602|ONCOTREE:FIOS|DOID:7603|ICDO:9182/3|NCIT:C4020 owl:Class HGNC:25439 biolink:NamedThing TANGO2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022622 biolink:NamedThing CDG syndrome type 4 tmpaxzxjjyw_mondo_relaxed.owl GARD:0001174 https://rarediseases.info.nih.gov/diseases/1174/cdg-syndrome-type-4 owl:Class MONDO:0001167 biolink:NamedThing spastic diplegia A type of cerebral palsy characterized by spasticity and hypertonia of the lower extremities bilaterally, particularly the legs, hips, and pelvis; this is the most common (70%) form of cerebral palsy. tmpaxzxjjyw_mondo_relaxed.owl infantile diplegic cerebral palsy|cerebral palsy spastic diplegic|diplegic infantile cerebral palsy|Little's disease|infantile spastic cerebral palsy|Little disease|cerebral spastic infantile paralysis ICD10:G80.1|UMLS:C0270804|ICD9:343.0|GARD:0009637|DOID:10965|SCTID:281411007|MESH:D002547|MESH:C537945|NCIT:C34781 MONDO:0022698 https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy owl:Class NCBITaxon:48796 biolink:NamedThing Setaria tmpaxzxjjyw_mondo_relaxed.owl Setaria GC_ID:1 ncbi_taxonomy owl:Class MONDO:0012838 biolink:NamedThing inflammatory bowel disease 16 An inflammatory bowel disease that has material basis in variation in the chromosome region 9q32. tmpaxzxjjyw_mondo_relaxed.owl IBD16|inflammatory bowel disease 16|inflammatory bowel disease type 16 DOID:0110896|MESH:C567380|UMLS:C2677093|OMIM:612259 owl:Class NCBITaxon:11655 biolink:NamedThing Feline lentivirus group tmpaxzxjjyw_mondo_relaxed.owl Feline lentiviruses GC_ID:1 ncbi_taxonomy owl:Class MONDO:0020420 biolink:NamedThing pulmonary branch stenosis Narrowing of the lumen of the right or left pulmonary artery branch. tmpaxzxjjyw_mondo_relaxed.owl branch pulmonary artery stenosis|peripheral pulmonary stenosis|pulmonary artery stenosis, branch (not PPS) UMLS:C2062889|ICD10:Q25.6|NCIT:C99144|Orphanet:99084 owl:Class MONDO:0017901 biolink:NamedThing autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency A genetic variant of Mendelian susceptibility to mycobacterial diseases characterized by a partial deficiency in IFN-gammaR1, leading to a residual response to IFN-gamma and, consequently, to recurrent, moderately severe infections with bacillus Calmette-Guerin (BCG) and other environmental mycobacteria (EM). tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive MSMD due to partial IFNgammaR1 deficiency|IFNGR1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR1|autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency|autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency UMLS:CN203960|Orphanet:319569|ICD10:D84.8|OMIM:209950 owl:Class MONDO:0001539 biolink:NamedThing retinal perforation A usually small tearing of the retina occurring when the vitreous separates from the retina. It may lead to retinal detachment. Symptoms include flashes and floaters. tmpaxzxjjyw_mondo_relaxed.owl retinal tear|retinal dialysis|retinal break DOID:12514|NCIT:C50732|MESH:D012167|SCTID:232003005|UMLS:C0035321 owl:Class MONDO:0004575 biolink:NamedThing choline deficiency disease A condition produced by a deficiency of choline in animals. Choline is known as a lipotropic agent because it has been shown to promote the transport of excess fat from the liver under certain conditions in laboratory animals. Combined deficiency of choline (included in the B vitamin complex) and all other methyl group donors causes liver cirrhosis in some animals. Unlike compounds normally considered as vitamins, choline does not serve as a cofactor in enzymatic reactions. (From Saunders Dictionary & Encyclopedia of Laboratory Medicine and Technology, 1984) tmpaxzxjjyw_mondo_relaxed.owl choline deficiency DOID:8456|UMLS:C0008412|MESH:D002796|ICD9:266.2|SCTID:238113006 owl:Class MONDO:0019419 biolink:NamedThing X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome is characterised by intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been localised to the q12-q21 region of the X chromosome. tmpaxzxjjyw_mondo_relaxed.owl Johnson syndrome UMLS:CN206174|ICD10:Q87.8|SCTID:719825000|Orphanet:85320 owl:Class MONDO:0015191 biolink:NamedThing myopathic intestinal pseudoobstruction tmpaxzxjjyw_mondo_relaxed.owl Orphanet:104077|ICD10:K59.8 owl:Class MONDO:0015644 biolink:NamedThing audiogenic seizures Audiogenic seizures is a rare neurologic disease characterized by seizures that are triggered by acoustic stimulation, which can be simple (as in startle epilepsy) or complex (e.g. musicogenic seizures, seizures triggered by the voice). tmpaxzxjjyw_mondo_relaxed.owl ICD10:G40.8|Orphanet:166415|SCTID:765216006|UMLS:C0751791 owl:Class MONDO:0100374 biolink:NamedThing acute myeloid leukemia, t(16;16)(p13.1;q22) Any acute myeloid leukemia that has the chromosomal anomaly t(16;16)(p13.1;q22). (A chromosomal translocation that involves chromosome 16. It is often associated with the development of acute myeloid leukemia CBFB-MYH11, acute myelomonocytic leukemia with abnormal eosinophils, and granulocytic sarcoma.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(16;16)(p13.1q22)|AML, t(16;16)(p13q22)|AML, t(16;16)(p13.1q22.1)|AML, t(16;16)(p13;q22)|AML, t(16;16)(p13.1;q22)|AML, t(16;16)(p13.1;q22.1) NCIT:C27759|NCIT:C9019 owl:Class MONDO:0008067 biolink:NamedThing nasopharyngeal carcinoma, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl Npca2|nasopharyngeal carcinoma, susceptibility to, 2|nasopharyngeal carcinoma, susceptibility to, type 2|NPCA2 OMIM:161550|GARD:0007163|Orphanet:150|UMLS:C2750548 owl:Class MONDO:0009169 biolink:NamedThing endocardial fibroelastosis Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia. tmpaxzxjjyw_mondo_relaxed.owl Elastomyofibrosis|EFE|endocardial fibroelastosis|endomyocardial fibroelastosis ICD10:I42.4|NCIT:C98922|ICD9:425.3|OMIM:226000|DOID:12929|Orphanet:2022|MESH:D004695|UMLS:C0014117|SCTID:65457005|EFO:0007251|GARD:0006336|MedDRA:10014663 Editor notes: ORDO classifies as both familial and non-familial https://rarediseases.info.nih.gov/diseases/6336/endocardial-fibroelastosis owl:Class MONDO:0012378 biolink:NamedThing fibromatosis, gingival, 3 tmpaxzxjjyw_mondo_relaxed.owl fibromatosis, gingival, 3|HGF3|hereditary gingival fibromatosis, 3|gingival fibromatosis, 3|fibromatosis, gingival, hereditary, 3|fibromatosis gingival, hereditary, 3|GGF3|GINGF3 GARD:0009911|MESH:C537928|OMIM:609955|Orphanet:2024 owl:Class ENVO:01001226 biolink:NamedThing terrestrial natural environment A natural environment which is located on a land mass. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008291 biolink:NamedThing porokeratosis plantaris palmaris et disseminata Porokeratosis plantaris palmaris et disseminata (PPPD) is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually become generalized. tmpaxzxjjyw_mondo_relaxed.owl porokeratosis palmaris Et plantaris disseminata|palmar, plantar and disseminated porokeratosis|porokeratosis plantaris palmaris et disseminata|POROK2|porokeratosis, palmar, plantar, and disseminated|porokeratosis 2, palmar, plantar, and disseminated type|porokeratosis, palmar, plantar, and disseminated, 1 OMIM:175850|Orphanet:737|ICD10:Q82.8|SCTID:718218005 owl:Class MONDO:0018551 biolink:NamedThing patent urachus Patent urachus is a type of congenital urachal anomaly characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus. tmpaxzxjjyw_mondo_relaxed.owl patent urachus|patent urachus (disease) patent urachus (disease) UMLS:CN237552|SCTID:398316009|HP:0010479|ICD10:Q64.4|Orphanet:431341|NCIT:C99005 owl:Class MONDO:0008489 biolink:NamedThing sternum, premature obliteration of sutures of tmpaxzxjjyw_mondo_relaxed.owl sternum, premature obliteration of sutures of OMIM:184800 owl:Class MONDO:0006214 biolink:NamedThing follicular variant thyroid gland papillary carcinoma A nonencapsulated variant of papillary carcinoma of the thyroid gland characterized by the predominance of follicular structures. The malignant follicular cells display the nuclear features that characterize the papillary adenocarcinomas of the thyroid gland. tmpaxzxjjyw_mondo_relaxed.owl FVPTC NCIT:C126594|EFO:1000261|UMLS:C3714651 owl:Class MONDO:0004475 biolink:NamedThing thymus clear cell carcinoma A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of carcinoma cells with clear cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl thymus clear cell carcinoma|clear cell carcinoma of Thymus|thymic clear cell carcinoma|Thymus clear cell carcinoma|clear cell carcinoma of the Thymus DOID:8137|UMLS:C1333069|NCIT:C6462 owl:Class MONDO:0015261 biolink:NamedThing pseudopelade of Brocq Pseudo-pelade of Brocq is a rare hair abnormality characterized by onset in adulthood of soft, irregular, flesh-toned patches of alopecia primarily in the parietal and vertex portions of the scalp, without follicular hyperkeratosis or perifollicular inflammation. tmpaxzxjjyw_mondo_relaxed.owl Brocq pseudopelade|pseudo-pelade of Brocq|pseudo pelade of Brocq GARD:0004536|ICD10:L66.0|ICD9:704.09|Orphanet:129|SCTID:238731001 https://rarediseases.info.nih.gov/diseases/4536/pseudopelade-of-brocq owl:Class MONDO:0006336 biolink:NamedThing ovarian endometrioid adenocarcinoma with squamous differentiation An endometrioid adenocarcinoma that arises from the ovary and exhibits squamous differentiation. The squamous cell component often has a cytologically benign appearance. tmpaxzxjjyw_mondo_relaxed.owl ovarian adenoacanthoma|ovarian adenosquamous carcinoma|ovarian endometrioid adenocarcinoma with squamous differentiation NCIT:C40061|EFO:1000417 owl:Class MONDO:0010103 biolink:NamedThing teeth, fused tmpaxzxjjyw_mondo_relaxed.owl teeth, fused OMIM:273000|SCTID:1744008 owl:Class MONDO:0017831 biolink:NamedThing mild Canavan disease Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development. tmpaxzxjjyw_mondo_relaxed.owl juvenile Canavan disease ICD10:E75.2|Orphanet:314918 owl:Class MONDO:0049223 biolink:NamedThing osteogenesis imperfecta, type 19 tmpaxzxjjyw_mondo_relaxed.owl OI19|osteogenesis imperfecta, type XIX UMLS:CN252653|OMIM:301014 owl:Class MONDO:0018125 biolink:NamedThing focal epilepsy-intellectual disability-cerebro-cerebellar malformation Focal epilepsy-intellectual disability-cerebro-cerebellar malformation is a rare, genetic neurological disorder characterized by early infantile-onset of seizures, borderline to moderate intellectual disability, cerebellar features including dysarthria and ataxia and cerebellar atrophy and cortical thickening observed on MRI imaging. Seizures are typically focal (with prominent eye blinking, facial and limb jerking), precipitated by fever and often commence with an oral sensory aura (anesthetized tongue sensation). When not properly controlled by anti-epileptic medication, weekly frequency and persistance into adult life is observed. tmpaxzxjjyw_mondo_relaxed.owl focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Orphanet:352587|ICD10:Q04.8|UMLS:CN204502 owl:Class MONDO:0010575 biolink:NamedThing deafness-hypogonadism syndrome This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior. tmpaxzxjjyw_mondo_relaxed.owl deafness hypogonadism syndrome|DHS|deafness-hypogonadism syndrome GARD:0001691|Orphanet:90646|OMIM:304350|MESH:C564435 https://rarediseases.info.nih.gov/diseases/1691/deafness-hypogonadism-syndrome owl:Class HGNC:18571 biolink:NamedThing XKRY tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0008819 biolink:NamedThing arteriosclerosis, severe juvenile tmpaxzxjjyw_mondo_relaxed.owl arteriosclerosis, severe juvenile UMLS:C1859725|MESH:C565941|OMIM:208060 owl:Class MONDO:0020402 biolink:NamedThing congenital accessory mitral valve tissue Accessory mitral valve tissue is a congenital non-syndromic heart malformation defined as an accessory mitral valve leaflet or various accessory mitral valve structures. It may be asymptomatic or present at various ages with symptoms of left ventricular outflow tract obstruction, low cardiac output due to subaortic obstruction or congestive heart failure. In some cases, it may be a source of cardioembolism. The malformation may be isolated or associated with other congenital heart malformations. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q23.8|Orphanet:99061 owl:Class MONDO:0018165 biolink:NamedThing venous thoracic outlet syndrome Venous thoracic outlet syndrome (VTOS) is a form of thoracic outlet syndrome (TOS) that manifests as unilateral (rarely bilateral) arm pain and cyanosis. tmpaxzxjjyw_mondo_relaxed.owl Venous scalenus anticus syndrome|Venous hyperabduction syndrome|Venous TOS|Venous cervical rib syndrome|Paget-Schrotter disease|Venous thoracic outlet compression syndrome|VTOS|effort subclavian vein thrombosis|Venous costoclavicular syndrome SCTID:25981000119102|Orphanet:357131|ICD10:G54.0|UMLS:C1956396 owl:Class MONDO:0034110 biolink:NamedThing atypical Fanconi syndrome-neonatal hyperinsulinism syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:544628 owl:Class MONDO:0009222 biolink:NamedThing Gollop-Wolfgang complex Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur. tmpaxzxjjyw_mondo_relaxed.owl bifid femur-monodactylous ectrodactyly syndrome|GWC|femur, unilateral bifid, with monodactylous ectrodactyly|Gollop-Wolfgang complex|femur bifid with monodactylous ectrodactyly SCTID:716006003|OMIM:228250|MESH:C537917|ICD10:Q74.8|Orphanet:1986|GARD:0002285|UMLS:C1856789 owl:Class MONDO:0008121 biolink:NamedThing onychogryposis, pedal, with keratosis plantaris and coarse hair tmpaxzxjjyw_mondo_relaxed.owl onychogryposis, pedal, with keratosis plantaris and coarse hair MESH:C563506|UMLS:C1833997|OMIM:164680 owl:Class MONDO:0010050 biolink:NamedThing spastic pseudosclerosis tmpaxzxjjyw_mondo_relaxed.owl disseminated encephalomyelopathy|Corticopallidodegeneration|spastic pseudosclerosis UMLS:C0599464|MESH:C563024|OMIM:270900 owl:Class MONDO:0007663 biolink:NamedThing glaucoma with elevated episcleral venous pressure tmpaxzxjjyw_mondo_relaxed.owl glaucoma with elevated episcleral venous pressure MESH:C564235|UMLS:C1842030|OMIM:137700 owl:Class MONDO:0015854 biolink:NamedThing supernumerary breasts tmpaxzxjjyw_mondo_relaxed.owl polymastia|accessory breasts Orphanet:180182|MedDRA:10049786|ICD10:Q83.1 owl:Class MONDO:0003465 biolink:NamedThing fibrous synovial sarcoma tmpaxzxjjyw_mondo_relaxed.owl fibrous sarcoma of the synovium|fibrous sarcoma of synovium DOID:5484|NCIT:C6533|UMLS:C1333616 owl:Class MONDO:0033534 biolink:NamedThing combined oxidative phosphorylation deficiency 46 tmpaxzxjjyw_mondo_relaxed.owl COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46|COXPD46 OMIM:618952 owl:Class MONDO:0019392 biolink:NamedThing syringocystadenoma papilliferum A benign adnexal neoplasm occurring during childhood or adolescence. It usually presents as a papular lesion or a plaque on the head and neck. It may arise in an organoid nevus such as sebaceous. It is characterized by an endophytic invagination of the epithelium into the dermis. There are dermal cystic spaces present, containing villous projections. Complete excision is curative. tmpaxzxjjyw_mondo_relaxed.owl papillary syringadenoma (morphologic abnormality)|naevus syringocystadenomatosus papilliferus|fistulous vegetative verrucous hydradenoma|Syringadenoma papilliferum|syringocystadenoma papilliferum|papillary syringocystadenoma|papillary Syringadenoma (syringocystadenoma papilliferum)|SCAP|papillary Syringadenoma|Syringadenoma NCIT:C4172|Orphanet:840|ICDO:8406/0|MedDRA:10042926|ICD10:D23.9|SCTID:239121009|UMLS:C0406803|GARD:0005100|DOID:5445|EFO:1000558 owl:Class HGNC:21576 biolink:NamedThing NHLRC1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012458 biolink:NamedThing hypertension, essential, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl hypertension, essential, susceptibility to, type 5|Hyt5|hypertension, essential, susceptibility to, 5|hypertension, essential, body Mass-related OMIM:610261 owl:Class MONDO:0001304 biolink:NamedThing benign hypertensive renal disease tmpaxzxjjyw_mondo_relaxed.owl hypertensive renal disease, benign|hypertensive renal disease, benign, without mention of renal failure DOID:11520|ICD9:403.1|ICD9:403.10|UMLS:C0155596|SCTID:193003 owl:Class MONDO:0021001 biolink:NamedThing hemochromatosis type 1 Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease tmpaxzxjjyw_mondo_relaxed.owl HFE-associated hereditary hemochromatosis|hemochromatosis, type 1|HFE-related hemochromatosis|classic hemochromatosis|symptomatic form of hemochromatosis type 1|HFE1|hemochromatosis type 1|symptomatic form of HFE-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis|C282Y/C282Y hemochromatosis DOID:0111029|Orphanet:139498|UMLS:CN242134|EFO:0006513|NCIT:C84764|OMIM:235200|GARD:0010417|SCTID:35400008|ICD9:275.01|ICD10:E83.1 owl:Class MONDO:0022805 biolink:NamedThing colonic malakoplakia tmpaxzxjjyw_mondo_relaxed.owl GARD:0006137 https://rarediseases.info.nih.gov/diseases/6137/colonic-malakoplakia owl:Class MONDO:0006892 biolink:NamedThing partial sensory epilepsy A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (epilepsy, complex partial). tmpaxzxjjyw_mondo_relaxed.owl DOID:3330|EFO:1001090|MESH:D020937 owl:Class MONDO:0013708 biolink:NamedThing intellectual disability, autosomal recessive 25 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 25|intellectual disability, autosomal recessive 25|MRT25 UMLS:C3280544|OMIM:614346 owl:Class MONDO:0100406 biolink:NamedThing acute myeloid leukemia, inv(16)(p13.3;q24.3) Any acute myeloid leukemia that has the chromosomal anomaly inv(16)(p13.3;q24.3). (A pericentric chromosomal inversion that involves chromosome 16. It is associated with CBFA2T3/GLIS2 fusions and pediatric acute megakaryoblastic leukemia.) tmpaxzxjjyw_mondo_relaxed.owl AML, inv(16)(p13;q24)|AML, inv(16)(p13.3q24.3)|AML, inv(16)(p13.3;q24.3)|AML, inv(16)(p13q24) NCIT:C167195 owl:Class MONDO:0017117 biolink:NamedThing congenital non-communicating hydrocephalus tmpaxzxjjyw_mondo_relaxed.owl congenital obstructive hydrocephalus SCTID:762295002|ICD10:Q03.8|ICD10:Q03.1|Orphanet:269510|ICD10:Q03.2 owl:Class MONDO:0009750 biolink:NamedThing neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl Charcot-Marie-Tooth disease with excessive myelin folding, autosomal recessive|HMSN with excessive myelin Outfolding, autosomal recessive|neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive UMLS:C1850385|OMIM:256855|MESH:C564947 owl:Class MONDO:0008789 biolink:NamedThing anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane tmpaxzxjjyw_mondo_relaxed.owl anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane MESH:C565953|OMIM:206300|UMLS:C1859786 owl:Class MONDO:0015050 biolink:NamedThing esophageal duplication cyst Esophageal duplication cyst is a rare, congenital, non-syndromic esophageal malformation, most frequently located in the distal esophagus and usually diagnosed in childhood, characterized by tubular or spherical cystic masses that have a double layer of surrounding smooth muscle lined with squamous or enteric epithelium, are continuous or contiguous to the esophagus and may, or may not, communicate with the esophageal lumen. Patients are frequently asymptomatic, or could present with a wide range of symptoms including respiratory distress, failure to thrive, dysphagia, epigastric discomfort, vomiting, stridor, non-productive cough, and chest pain. Other more rare symptoms, such as cardiac arrhythmia, thoracic back pain, cystic hemorrgage and ulceration, and mediastinitis, have also been reported. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q39.8|SCTID:721161005|Orphanet:100047 owl:Class MONDO:0100032 biolink:NamedThing familial temporal lobe epilepsy syndrome This syndrome is identified in an individual who has seizures with temporal lobe features with a family history of similar seizures. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled. tmpaxzxjjyw_mondo_relaxed.owl 2018-06-23 01:48:38+00:00 owl:Class MONDO:0006747 biolink:NamedThing enterotoxemia Disease caused by the liberation of exotoxins of clostridium perfringens in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease. tmpaxzxjjyw_mondo_relaxed.owl MESH:D004767|UMLS:C0014371|EFO:1000922|SCTID:370514003|ICD9:799.89 owl:Class MONDO:0001443 biolink:NamedThing tympanosclerosis The formation of dense connective tissue in the tympanic membrane that does not necessarily cause or lead to loss of hearing. tmpaxzxjjyw_mondo_relaxed.owl ICD9:385.00|ICD9:385.09|ICD10:H74.0|SCTID:23606001|MESH:D063371|DOID:1214 owl:Class MONDO:0017724 biolink:NamedThing Tay-Sachs disease, b variant, infantile form tmpaxzxjjyw_mondo_relaxed.owl GM2 gangliosidosis, B variant, infantile form|hexosaminidase A deficiency, infantile form Orphanet:309178|UMLS:CN203620|ICD10:E75.0 owl:Class HGNC:8133 biolink:NamedThing OLR1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015800 biolink:NamedThing osteosclerosis-developmental delay-craniosynostosis syndrome This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200391|ICD10:Q75.8|SCTID:722117000|Orphanet:178377 owl:Class UBERON:0012485 biolink:NamedThing cloacal villus tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017302 biolink:NamedThing qualitative or quantitative defects of troponin tmpaxzxjjyw_mondo_relaxed.owl Orphanet:284786 owl:Class MONDO:0016710 biolink:NamedThing medulloblastoma with extensive nodularity Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma, an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome and has a relatively good prognosis. tmpaxzxjjyw_mondo_relaxed.owl medulloblastoma with extensive nodularity|nodular medulloblastoma|cerebellar neuroblastoma|MBEN|medulloblastoma with extensive nodularity and advanced neuronal differentiation NCIT:C5407|UMLS:CN201957|ICD10:C71.6|UMLS:C1334970|ICDO:9471/3|OMIM:155255|Orphanet:251858|ONCOTREE:MBEN owl:Class MONDO:0019412 biolink:NamedThing dysspondyloenchondromatosis Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry. tmpaxzxjjyw_mondo_relaxed.owl SCTID:722434004|UMLS:C4302548|ICD10:Q78.4|Orphanet:85198 owl:Class MONDO:0012692 biolink:NamedThing renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies tmpaxzxjjyw_mondo_relaxed.owl renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies|renal tubular acidosis, distal, with nephrocalcinosis, short stature, intellectual disability, and distinctive facies MESH:C566918|UMLS:C1969055|OMIM:611555 owl:Class MONDO:0011957 biolink:NamedThing retinal macular dystrophy type 2 Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages. tmpaxzxjjyw_mondo_relaxed.owl macular dystrophy, retinal, type 2|MCDR2|macular dystrophy, retinal, 2 MESH:C562746|Orphanet:319640|ICD10:H35.5|OMIM:608051 owl:Class MONDO:0060551 biolink:NamedThing cerebellar atrophy, developmental delay, and seizures tmpaxzxjjyw_mondo_relaxed.owl CADEDS|cerebellar atrophy, developmental delay, and seizures OMIM:617643|UMLS:C4539985 owl:Class MONDO:0005470 biolink:NamedThing postprandial hypotension Drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines. tmpaxzxjjyw_mondo_relaxed.owl EFO:0005253 owl:Class MONDO:0008464 biolink:NamedThing split hand-foot malformation 1 Split-hand/foot malformation mapped to chromosome 7q21.3 tmpaxzxjjyw_mondo_relaxed.owl SHFD1|ectrodactyly|split-hand/foot malformation type 1|split-hand/foot malformation 1 with or without deafness|split hand-foot malformation type 1|split-hand/foot deformity 1|SHFM1|split-hand deformity|split-hand/foot malformation 1 Orphanet:2440|OMIM:183600|GARD:0007685|NCIT:C75045|DOID:0090021|UMLS:C2931019|ICD10:Q71.6 owl:Class MONDO:0032858 biolink:NamedThing developmental and epileptic encephalopathy, 81 tmpaxzxjjyw_mondo_relaxed.owl EIEE81|epileptic encephalopathy, early infantile, 81|DEE81|EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81 OMIM:618663 owl:Class MONDO:0013796 biolink:NamedThing chromosome 17q12 duplication syndrome 17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. tmpaxzxjjyw_mondo_relaxed.owl 17q12 duplication|recurrent duplication of 17q12|dup(17)(q12)|17q12 microduplication syndrome|trisomy 17q12|17q12 microduplication|chromosome 17q12 duplication syndrome Orphanet:261272|SCTID:764435003|OMIM:614526|DOID:0060433|ICD10:Q92.3|GARD:0013296|UMLS:C3281137 owl:Class MONDO:0017476 biolink:NamedThing upper limb hypertrophy tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q74.0|Orphanet:295049 owl:Class MONDO:0007701 biolink:NamedThing progressive familial heart block type II tmpaxzxjjyw_mondo_relaxed.owl heart block progressive familial type 2|PFHB2|PFHBII|progressive familial heart block type 2|progressive familial heart block, type II DOID:0111075|ICD9:426.6|MESH:C564202|OMIM:140400|GARD:0004879|Orphanet:871|SCTID:698251009 https://rarediseases.info.nih.gov/diseases/4879/progressive-familial-heart-block-type-2 owl:Class MONDO:0008235 biolink:NamedThing pheochromocytoma-islet cell tumor syndrome tmpaxzxjjyw_mondo_relaxed.owl pheochromocytoma and islet cell tumor of the pancreas|pheochromocytoma-islet cell tumor syndrome|pheochromocytoma--islet cell tumor syndrome UMLS:C1868392|OMIM:171420|GARD:0004321|MESH:C566807 https://rarediseases.info.nih.gov/diseases/4321/pheochromocytoma-islet-cell-tumor-syndrome owl:Class MONDO:0054739 biolink:NamedThing Fraser syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl Fraser syndrome 3|FRASRS3 OMIM:617667|UMLS:C4540040|DOID:0111406 owl:Class MONDO:0032668 biolink:NamedThing Diamond-Blackfan anemia 18 tmpaxzxjjyw_mondo_relaxed.owl DBA18|DIAMOND-BLACKFAN ANEMIA 18 OMIM:618310 owl:Class MONDO:0017179 biolink:NamedThing limbic encephalitis with caspr2 antibodies Limbic encephalitis with caspr2 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive deficits, psychiatric disturbances (e.g. personality changes), seizures, peripheral nerve hyperexcitability, dysautonomia, neuropathic pain, insomnia and weight loss, in association with detection of caspr2 antibodies in serum or cerebrospinal fluid, with or without underlying malignancies. Other features reported include blepharoclonus, myoclonic status epilepticus, and dyskinesia. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:276402|ICD10:G13.1|SCTID:763793004 owl:Class MONDO:0009000 biolink:NamedThing familial reactive perforating collagenosis Familial reactive perforating collagenosis is a very rare genetic skin disease characterized by transepidermal elimination of collagen fibers presenting as recurrent spontaneously involuting keratotic papules or nodules. tmpaxzxjjyw_mondo_relaxed.owl collagenosis, familial reactive perforating|inherited reactive perforating collagenosis|RPC Orphanet:79147|ICD10:L87.1|OMIM:216700|GARD:0013331|MESH:C565687|UMLS:C1857624 https://rarediseases.info.nih.gov/diseases/13331/familial-reactive-perforating-collagenosis owl:Class MONDO:0017221 biolink:NamedThing Pelizaeus-Merzbacher disease, connatal form The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD. tmpaxzxjjyw_mondo_relaxed.owl Pelizaeus-Merzbacher disease type II|severe PMD|connatal PMD ICD10:E75.2|Orphanet:280210|UMLS:CN202703 owl:Class MONDO:0003326 biolink:NamedThing intermixed schwannian stroma-rich ganglioneuroblastoma A ganglioneuroblastoma characterized by the presence of neuroblastic cells in a Schwannian stroma, without the presence of hemorrhagic neuroblastic nodules. tmpaxzxjjyw_mondo_relaxed.owl ganglioneuroblastoma, intermixed (Schwannian Stroma-rich)|ganglioneuroblastoma, intermixed DOID:5194|UMLS:C1517444|NCIT:C42057 owl:Class MONDO:0009801 biolink:NamedThing familial osteodysplasia, Anderson type Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982. tmpaxzxjjyw_mondo_relaxed.owl osteodysplasia, familial, Anderson type|osteodysplasia familial Anderson type MESH:C564923|UMLS:C1850186|Orphanet:2769|GARD:0004136|OMIM:259250 https://rarediseases.info.nih.gov/diseases/4136/osteodysplasia-familial-anderson-type owl:Class GO:0004347 biolink:NamedThing glucose-6-phosphate isomerase activity Catalysis of the reaction: D-glucose 6-phosphate = D-fructose 6-phosphate. tmpaxzxjjyw_mondo_relaxed.owl D-glucose-6-phosphate ketol-isomerase activity|phosphohexose isomerase activity|glucose phosphate isomerase activity|hexosephosphate isomerase activity|phosphoglucose isomerase activity|oxoisomerase activity|phosphosaccharomutase activity|D-glucose-6-phosphate aldose-ketose-isomerase activity|phosphoglucoisomerase activity|phosphohexomutase activity|hexose phosphate isomerase activity|phosphohexoisomerase activity|hexose monophosphate isomerase activity owl:Class HGNC:30022 biolink:NamedThing PPARGC1B tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001962 biolink:NamedThing abnormality of glucagon secretion tmpaxzxjjyw_mondo_relaxed.owl glucagon secretion abnormality DOID:14427|ICD9:251.4|UMLS:C0154191|SCTID:11178005 owl:Class MONDO:0006569 biolink:NamedThing leg dermatosis A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed) tmpaxzxjjyw_mondo_relaxed.owl EFO:1000723|DOID:3142|MESH:D007868|UMLS:C0023219 owl:Class MONDO:0003831 biolink:NamedThing type 2 papillary adenoma of the kidney tmpaxzxjjyw_mondo_relaxed.owl type 2 renal papillary adenoma|type 2 papillary adenoma of the kidney DOID:6259|NCIT:C39810|UMLS:C1519710 owl:Class MONDO:0013297 biolink:NamedThing autosomal dominant limb-girdle muscular dystrophy type 1H Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by slowly progressive proximal muscular weakness initially affecting the lower limbs (and later involving the upper limbs), hypotrophy of upper and lower limb-girdle muscles, hyporeflexia, calf hypertrophy, and increased serum creatine kinase. There is no involvement of oculo-facial-bulbar muscles and cardiac muscle. tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy limb-girdle type 1H|LGMD1H|muscular dystrophy, limb-girdle, type 1H|limb-girdle muscular dystrophy type 1H GARD:0012532|OMIM:613530|ICD10:G71.0|UMLS:C3150786|DOID:0110303|Orphanet:238755 owl:Class MONDO:0004215 biolink:NamedThing cutaneous anthrax An anthrax disease that results in infection located in skin, has material basis in Bacillus anthracis, which is transmitted by contact with infected animals or animal products. The infection has symptom skin lesion that eventually forms an ulcer with a black center. tmpaxzxjjyw_mondo_relaxed.owl anthrax, skin type|skin anthrax ICD9:022.0|ICD10:A22.0|MESH:C531621|GARD:0008158|UMLS:C0003177|DOID:7426|SCTID:84980006 https://rarediseases.info.nih.gov/diseases/8158/cutaneous-anthrax owl:Class MONDO:0008339 biolink:NamedThing antecubital pterygium syndrome tmpaxzxjjyw_mondo_relaxed.owl antecubital pterygium|pterygium antecubital|antecubital pterygium syndrome|pterygium, antecubital UMLS:C1867439|GARD:0004570|Orphanet:2987|OMIM:178200|MESH:C566738 owl:Class MONDO:0017561 biolink:NamedThing congenital genu flexum tmpaxzxjjyw_mondo_relaxed.owl Orphanet:295232|ICD10:Q68.2 owl:Class MONDO:0030360 biolink:NamedThing cholestasis, progressive familial intrahepatic, 6 tmpaxzxjjyw_mondo_relaxed.owl cholestasis, progressive familial intrahepatic, 6|PFIC6 OMIM:619484 owl:Class MONDO:0020761 biolink:NamedThing Bowen disease of the skin A form of squamous cell carcinoma in situ. It is a distinct clinicopathological entity and arises from the skin or the mucocutaneous junction. It affects predominantly white males in their 6-8th decades of life. Exposed and non-exposed skin sites are equally affected. UV damage and ingestion of inorganic arsenic may play a role in the development of the disease. On the skin surface, it presents as a single or multiple erythematous, scaly, keratotic patches or plaques. The clinical entity of erythroplasia of Queyrat is regarded as Bowen disease of the penis and it presents as an asymptomatic, red, circumscribed plaque. Morphologically, Bowen disease is characterized by the presence of hyperkeratosis, parakeratosis, dyskeratosis, and acanthosis. The keratotic squamous cells are atypical and display hyperchromatism and abnormal mitotic figures. The dermoepidermal basement membrane is intact. Complete surgical removal of the lesion may be curative. tmpaxzxjjyw_mondo_relaxed.owl Bowen's disease of the skin|Bowens Disease|Bowen disease|Bowen disease of the skin|Disease, Bowen's|Disease, Bowen|intraepidermal squamous cell carcinoma, Bowen type|Bowen Disease MESH:D001913|GARD:0005948|UMLS:C0006079|NCIT:C62571|ICDO:8081/2 owl:Class MONDO:0018754 biolink:NamedThing cyanide poisoning tmpaxzxjjyw_mondo_relaxed.owl ICD9:989.0|Orphanet:466670|SCTID:66207005|UMLS:CN242145|ICD10:T65.0 owl:Class MONDO:0012678 biolink:NamedThing atrial fibrillation, familial, 5 tmpaxzxjjyw_mondo_relaxed.owl ATFB5|atrial fibrillation, familial, 5 OMIM:611494|Orphanet:334|MESH:C566932|UMLS:C1969099 owl:Class MONDO:0024971 biolink:NamedThing parturient paresis A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes. tmpaxzxjjyw_mondo_relaxed.owl Pareses, parturient|animal milk fever|milk fever, animal|parturient Pareses|fever, animal milk|paresis, parturient MESH:D010319|SCTID:405256006|UMLS:C0030612 owl:Class MONDO:0006583 biolink:NamedThing necrobiosis lipoidica Necrobiosis lipoidica is a rare skin disorder of collagen degeneration. It is characterized by a rash that occurs on the lower legs. It is more common in women, and there are usually several spots. They are slightly raised shiny red-brown patches. The centers are often yellowish and may develop open sores that are slow to heal. Infections can occur but are uncommon. Some patients have itching, pain, or abnormal sensations. It usually occurs more often in people with diabetes, in people with a family history of diabetes or a tendency to get diabetes, but can occur in nondiabetic people. About 11% to 65% of patients with necrobiosis lipoidica also have diabetes, but the exact cause is still not known. Treatment is difficult. The disease is typically chronic with variable progression and scarring. tmpaxzxjjyw_mondo_relaxed.owl necrobiosis lipoidica|necrobiosis lipoidica diabeticorum (formerly) MESH:D009335|SCTID:9418005|Wikipedia:Necrobiosis_lipoidica|ICD10:L92.1|UMLS:C0027538|EFO:1000738|NCIT:C34840|GARD:0013040|DOID:3486|Orphanet:542592 https://rarediseases.info.nih.gov/diseases/13040/necrobiosis-lipoidica owl:Class MONDO:0018739 biolink:NamedThing neonatal alloimmune neutropenia tmpaxzxjjyw_mondo_relaxed.owl SCTID:14333004|Orphanet:464370|ICD10:P61.5|UMLS:C0272176 owl:Class MONDO:0020452 biolink:NamedThing inferior vena cava interruption tmpaxzxjjyw_mondo_relaxed.owl IVC interruption|Inferior caval vein interruption SCTID:93031005|Orphanet:99123|ICD10:Q26.8|ICD9:747.49 owl:Class HGNC:1440 biolink:NamedThing CALCR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007062 biolink:NamedThing congenital absence/hypoplasia of fingers excluding thumb, unilateral Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia). tmpaxzxjjyw_mondo_relaxed.owl digits 2-5 hypodactyly, unilateral|adactylia unilateral|adactylia, unilateral|digits 2-5 oligodactyly, unilateral|terminal transverse defects of hand, unilateral|Adactyly of hand, unilateral Orphanet:973|Orphanet:294990|ICD10:Q71.3|OMIM:102650|GARD:0000377|MESH:C562417 https://rarediseases.info.nih.gov/diseases/377/adactylia-unilateral owl:Class MONDO:0006624 biolink:NamedThing overactive bladder Symptom of overactive detrusor muscle of the urinary bladder that contracts with abnormally high frequency and urgency. Overactive bladder is characterized by the frequent feeling of needing to urinate during the day, during the night, or both. urinary incontinence may or may not be present. tmpaxzxjjyw_mondo_relaxed.owl overactive bladder (disease)|overactive bladder overactive bladder (disease) ICD9:596.51|EFO:1000781|HP:0000012|MedDRA:10020853|MESH:D053201|SCTID:236633002 owl:Class MONDO:0015690 biolink:NamedThing myeloid neoplasm associated with PDGFRB rearrangement A rare, malignant, neoplastic disease characterized by clonal proliferation of myeloid and/or lymphoid precursors harboring rearrangements in the PDGFRB gene, in the blood, bone marrow and often other tissues as well (spleen, lymph nodes, skin, etc.). It usually presents as chronic myelomonocytic leukemia with eosinophilia, chronic eosinophilic leukemia, atypical chronic myelogenous leukemia, juvenile myelomonocytic leukemia, myelodysplastic syndrome, acute myeloid leukemia or acute lymphoblastic leukemia. Patients usually present with anemia, leukocytosis, monocytosis, eosinophilia and/or splenomegaly, or systemic symptoms, such as fever, sweating and/or weight loss. tmpaxzxjjyw_mondo_relaxed.owl myeloid neoplasms with PDGFRB rearrangement|myeloid/lymphoid neoplasms with PDGFRB rearrangement|myeloid neoplasms associated with PDGFRB rearrangement|myeloid/lymphoid neoplasm associated with PDGFRB rearrangement|myeloid and lymphoid neoplasms with PDGFRB rearrangement ICDO:9966/3|Orphanet:168950|ONCOTREE:MLNPDGFRB|NCIT:C84276|DOID:0080166|SCTID:724642009|ICD10:D47.1|UMLS:C2827361 owl:Class CL:0013000 biolink:NamedThing forebrain radial glial cell tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016681 biolink:NamedThing gliosarcoma A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO). tmpaxzxjjyw_mondo_relaxed.owl gliosarcoma|sarcomatous glioblastoma|glioblastoma with sarcomatous component|glioblastoma with a sarcomatous component DOID:3071|Orphanet:251576|ONCOTREE:GSARC|MedDRA:10018340|MESH:D018316|ICD10:G71.9|ICDO:9442/3|GARD:0005653|UMLS:C0206726|EFO:1001465|NCIT:C3796 https://rarediseases.info.nih.gov/diseases/5653/gliosarcoma owl:Class NCBITaxon:487 biolink:NamedThing Neisseria meningitidis tmpaxzxjjyw_mondo_relaxed.owl Neisseria weichselbaumii|Micrococcus intracellularis|Micrococcus meningitidis|Diplokokkus intracellularis meningitidis|Micrococcus meningitidis cerebrospinalis GC_ID:11 ncbi_taxonomy owl:Class MONDO:0004267 biolink:NamedThing squamous papillomatosis A benign squamous neoplasm characterized by a papillary growth pattern, diffusely involving a specific anatomic site. tmpaxzxjjyw_mondo_relaxed.owl squamous papillomatosis UMLS:C1378340|ICDO:8060/0|NCIT:C9009|DOID:7532 owl:Class MONDO:0018426 biolink:NamedThing AXIN2-related attenuated familial adenomatous polyposis tmpaxzxjjyw_mondo_relaxed.owl AXIN2-related attenuated FAP|AXIN2-related AFAP|AXIN2-related attenuated familial polyposis coli ICD10:D12.6|Orphanet:401911|UMLS:CN226139 owl:Class CHEBI:38975 biolink:NamedThing methylbenzene Any alkylbenzene that is benzene substituted with one or more methyl groups. tmpaxzxjjyw_mondo_relaxed.owl methylbenzenes owl:Class MONDO:0017558 biolink:NamedThing congenital elbow dislocation, unilateral tmpaxzxjjyw_mondo_relaxed.owl Orphanet:295225|ICD10:Q68.8 owl:Class MONDO:0600014 biolink:NamedThing alveolar capillary dysplasia without misalignment of pulmonary veins A rare form of interstitial and vascular lung disease that presents as severe pulmonary hypertension and refractory hypoxemia early in life that is characterized by a lack of misalignment of the pulmonary veins. tmpaxzxjjyw_mondo_relaxed.owl ACD without misalignment http://orcid.org/0000-0002-5460-8025 https://github.com/monarch-initiative/mondo/pull/3186|https://github.com/monarch-initiative/mondo/issues/3026 owl:Class MONDO:0029148 biolink:NamedThing spermatogenic failure 34 tmpaxzxjjyw_mondo_relaxed.owl SPERMATOGENIC FAILURE 34|SPGF34 OMIM:618153 owl:Class MONDO:0005639 biolink:NamedThing AIDS related complex A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating aids-related complex (ARC) from aids include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in aids; follicular or mixed hyperplasia in arc lymph nodes, leading to lymphocyte degeneration and depletion more typical of aids; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown aids. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001857|MESH:D000386|EFO:0007137 owl:Class MONDO:0009884 biolink:NamedThing platelet prostacyclin receptor defect tmpaxzxjjyw_mondo_relaxed.owl platelet prostacyclin receptor defect|Vienna-Hietzing defect UMLS:C1849774|MESH:C564884|OMIM:262875 owl:Class MONDO:0005532 biolink:NamedThing Crohn's colitis Crohn's disease affecting the colon. tmpaxzxjjyw_mondo_relaxed.owl Crohn colitis ICD10:K50.1|SCTID:7620006|ICD9:555.1|NCIT:C35211|DOID:0060192|EFO:0005622 owl:Class MONDO:0008405 biolink:NamedThing scapula, contour of vertebral border of tmpaxzxjjyw_mondo_relaxed.owl scapula, contour of vertebral border of 2022-04-01 OMIM:181300 Reason: out of scope. This is a trait or legacy term from OMIM and not suitabale for Mondo.Term to consider: none owl:Class MONDO:0004524 biolink:NamedThing thyroid gland atypical follicular adenoma A thyroid gland adenoma with increased cellularity and nuclear atypia. There is no capsular or vascular invasion. The clinical course is benign. tmpaxzxjjyw_mondo_relaxed.owl atypical follicular adenoma (morphologic abnormality)|thyroid gland atypical follicular adenoma|atypical follicular adenoma ICDO:8330/1|UMLS:C1266046|NCIT:C27729|DOID:8292 owl:Class MONDO:0006163 biolink:NamedThing colorectal serrated adenocarcinoma A rare, invasive colorectal adenocarcinoma characterized by the presence of a malignant infiltrate with serrated glandular architecture. tmpaxzxjjyw_mondo_relaxed.owl colorectal serrated adenocarcinoma NCIT:C96485|EFO:1000196|UMLS:C3272809|ICDO:8213/3 owl:Class MONDO:0006786 biolink:NamedThing hepatic vein thrombosis A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon. tmpaxzxjjyw_mondo_relaxed.owl hepatic vein thrombosis|Budd-Chiari syndrome DOID:11512|ICD10:I82.0|MedDRA:10019713|EFO:1000966|MedDRA:10006537|ICD9:453.0|SCTID:38739001 owl:Class MONDO:0006280 biolink:NamedThing lung sclerosing hemangioma A benign tumor that arises from the lung. It is characterized by the presence of sclerotic, papillary, solid, and hemorrhagic patterns and hyperplastic type II pneumocytes. Cholesterol clefts, hemosiderin deposition, chronic inflammation, and calcifications may be present. In the majority of cases, it is a solitary and peripheral tumor. Patients are usually asymptomatic. tmpaxzxjjyw_mondo_relaxed.owl sclerosing hemangioma|sclerosing angioma of lung|lung sclerosing hemangioma|sclerosing hemangioma of lung|sclerosing Pneumocytoma|sclerosing angioma of the lung|Pneumocytoma|pulmonary sclerosing hemangioma|sclerosing haemangioma|lung sclerosing angioma|sclerosing hemangioma of the lung EFO:1000337|DOID:5766|DOID:495|MESH:D047868|SCTID:707365008|ICD9:228.09|UMLS:C1509148|NCIT:C5656 Editor note: we beieve the 3 DO classes are equivalent MONDO:0006934 owl:Class MONDO:0011597 biolink:NamedThing atopic dermatitis 3 An atopic dermatitis associated with variation in the region 20p. tmpaxzxjjyw_mondo_relaxed.owl atopic dermatitis type 3|ATOD3|dermatitis, Atopic, with asthma|dermatitis, ATOPIC, 3|atopic dermatitis with asthma OMIM:605804|UMLS:C1853964|MESH:C565292|DOID:0110099 owl:Class MONDO:0100315 biolink:NamedThing isolated adrenal insufficiency An ABCD1 deficiency that presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly adrenomyeloneuropathy (AMN)) usually develops by middle age. tmpaxzxjjyw_mondo_relaxed.owl isolated adrenal insufficiency http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0007278 biolink:NamedThing cataract 32 multiple types A cataract that has material basis in mutation in the region 14q22-q23. tmpaxzxjjyw_mondo_relaxed.owl cataract, anterior polar, 1|anterior polar cataract 1|cataract 32, multiple types|CTAA1|cataract, anterior polar|CTRCT32|cataract, posterior polar, 5|posterior polar cataract 5|CTPP5 ICD10:Q12.0|Orphanet:98993|DOID:0110227|Orphanet:98988|OMIM:115650|Orphanet:91492 Links to OMIM series but not listed. owl:Class MONDO:0009302 biolink:NamedThing XY type gonadal dysgenesis-associated anomalies syndrome Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl gonadal dysgenesis XY type associated anomalies|gonadal dysgenesis, 10Y type, with associated anomalies|gonadal dysgenesis, XY type, with associated anomalies Orphanet:1770|ICD10:Q99.1|UMLS:C1856272|MESH:C565536|GARD:0002541|OMIM:233430 https://rarediseases.info.nih.gov/diseases/2541/gonadal-dysgenesis-xy-type-associated-anomalies owl:Class HGNC:11557 biolink:NamedThing TAL2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017403 biolink:NamedThing familial isolated arrhythmogenic ventricular dysplasia, right dominant form tmpaxzxjjyw_mondo_relaxed.owl familial isolated arrhythmogenic ventricular dysplasia, classic form|familial isolated arrhythmogenic ventricular cardiomyopathy, classic form|familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form Orphanet:293910|UMLS:CN203147|OMIM:107970|OMIM:610193|ICD10:I42.8 owl:Class MONDO:0007722 biolink:NamedThing heterochromia iridis tmpaxzxjjyw_mondo_relaxed.owl heterochromia iridis|heterochromia iridis (disease) heterochromia iridis (disease) OMIM:142500|MESH:C538115|HP:0001100 owl:Class MONDO:0033375 biolink:NamedThing orofaciodigital syndrome 17 tmpaxzxjjyw_mondo_relaxed.owl Ofds 17|oral-Facial-digital syndrome, type 17|OFD17|orofaciodigital syndrome XVII DOID:0080289|OMIM:617926|UMLS:CN902091 owl:Class MONDO:0001546 biolink:NamedThing hypermobility of coccyx tmpaxzxjjyw_mondo_relaxed.owl hypermobility of the coccyx|coccygeal hypermobility syndrome SCTID:202809009|UMLS:C0158295|ICD9:724.71|DOID:12537 owl:Class MONDO:0000703 biolink:NamedThing collagenous colitis A type of microscopic colitis of unknown etiology. It is characterized by the presence of collagen deposits in the lamina propria of the colonic mucosa. Patients present with chronic watery diarrhea. Colonoscopy reveals normal-appearing mucosa. The diagnosis is made with the microscopic examination of the colonic biopsy samples. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060183|GARD:0006135|ICD10:K52.831|MESH:D046729|Orphanet:36205|SCTID:19311003|MedDRA:10048928|ICD10:K52.89|UMLS:C0238067|NCIT:C27021|EFO:1001293|ICD9:558.9 https://rarediseases.info.nih.gov/diseases/6135/collagenous-colitis owl:Class MONDO:0100392 biolink:NamedThing acute myeloid leukemia, t(11;17) Any acute myeloid leukemia that has the chromosomal anomaly t(11;17). (A cytogenetic abnormality that involves a translocation between chromosomes 11 and 17.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(11;17) NCIT:C175582 owl:Class MONDO:0011802 biolink:NamedThing hypercalciuria, absorptive, 1 tmpaxzxjjyw_mondo_relaxed.owl hypercalciuria, absorptive, type 1|Hca1|hypercalciuria, absorptive, 1 MESH:C564600|Orphanet:2197|UMLS:C1846573|OMIM:607258 owl:Class MONDO:0007370 biolink:NamedThing coracoclavicular joint, anomalous tmpaxzxjjyw_mondo_relaxed.owl coracoclavicular joint, anomalous OMIM:121350|MESH:C565161 owl:Class MONDO:0015806 biolink:NamedThing adult intestinal botulism A very rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by Clostridium botulinum leading to toxin-mediated infection with toxemia. tmpaxzxjjyw_mondo_relaxed.owl adult intestinal colonization botulism|intestinal botulism of adults|infant-like botulism|adult intestinal toxin-mediated botulism|adult intestinal toxemia botulism Orphanet:178487|ICD10:A05.1|NCIT:C128344|UMLS:C4289991 owl:Class MONDO:0600005 biolink:NamedThing venom allergy An allergic disease involving venom. tmpaxzxjjyw_mondo_relaxed.owl venom hypersensitivity|IgE-mediated venom hypersensitivity http://orcid.org/0000-0002-5460-8025 owl:Class MONDO:0032772 biolink:NamedThing brain abnormalities, neurodegeneration, and dysosteosclerosis tmpaxzxjjyw_mondo_relaxed.owl BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS|BANDDOS OMIM:618476 owl:Class MONDO:0018713 biolink:NamedThing retiform hemangioendothelioma An intermediate, locally aggressive and rarely metastasizing blood vessel neoplasm. It is characterized by the presence of hobnail endothelial cells and formation of arborizing vascular channels. tmpaxzxjjyw_mondo_relaxed.owl retiform hemangioendothelioma|hobnail hemangioendothelioma NCIT:C27511|UMLS:CN242097|Orphanet:458763|UMLS:C1304512|SCTID:403982005|ICD10:D18.0 owl:Class MONDO:0014890 biolink:NamedThing PERCHING syndrome Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene. tmpaxzxjjyw_mondo_relaxed.owl CISS3|cold-induced sweating syndrome type 3|cold-induced sweating syndrome 3|Postural and Palatal abnormalities; Exophthalmos and Enteral-tube dependency/feeding issues; Respiratory distress and Retinitis pigmentosa; Contractures and Camptodactyly; Hypertelorism and Hirsutism; Intrauterine growth retardation (IUGR)/growth failure and Intellectual disability/developmental delay; Nevus flammeus and Neurologic malformations;and facial Gestalt/grimacing and Genitourinary abnormalities|CRISPONI/cold-induced sweating syndrome 3|KLHL7 cold-induced sweating syndrome|cold-induced sweating syndrome caused by mutation in KLHL7|PERCHING|Crisponi/cold-induced sweating syndrome 3 OMIM:617055|DOID:0080331|UMLS:C4310742 owl:Class MONDO:0030937 biolink:NamedThing mitochondrial complex 2 deficiency, nuclear type 3 tmpaxzxjjyw_mondo_relaxed.owl MC2DN3|mitochondrial complex 2 deficiency, nuclear type 3 OMIM:619167 owl:Class MONDO:0019397 biolink:NamedThing unknown leukodystrophy tmpaxzxjjyw_mondo_relaxed.owl ICD10:E75.2|Orphanet:84096 owl:Class MONDO:0010251 biolink:NamedThing intellectual disability, X-linked 50 tmpaxzxjjyw_mondo_relaxed.owl MRX50|intellectual disability, X-linked 50|mental retardation, X-linked 50 UMLS:C1848087|OMIM:300115|MESH:C564713|Orphanet:777 owl:Class MONDO:0012002 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 40 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 22q11.21-q12.1. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 40|autosomal recessive nonsyndromic deafness 40|DFNB40|autosomal recessive deafness 40|autosomal recessive nonsyndromic deafness type 40 OMIM:608264|MESH:C564266|UMLS:C1842345|Orphanet:90636|ICD10:H90.3|DOID:0110499 owl:Class HP:0007513 biolink:NamedThing Generalized hypopigmentation tmpaxzxjjyw_mondo_relaxed.owl Fair skin|Pale pigmentation|Generalised hypopigmentation UMLS:C1849923 HP:0000984|HP:0007419 human_phenotype owl:Class MONDO:0012317 biolink:NamedThing visceral neuropathy, familial, 3, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl enteric neuropathy, familial|visceral neuropathy, familial, autosomal dominant|pseudoobstruction, idiopathic intestinal|pseudoobstruction, chronic intestinal, neuropathic UMLS:C1864996|Orphanet:2978|OMIM:609629 owl:Class MONDO:0019195 biolink:NamedThing hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Hereditary inclusion body myopathy type 3 is characterised by congenital joint contractures (normalizing during early childhood), external ophthalmoplegia, and proximal muscle weakness. In adult cases, the muscular weakness is progressive. tmpaxzxjjyw_mondo_relaxed.owl IBM3|HIBM3|inclusion body myopathy type 3|Myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles|Hereditary inclusion body myopathy type 3|Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia|Inclusion body myopathy autosomal dominant|hereditary inclusion body myopathy type 3 GARD:0009494|SCTID:724349009|Orphanet:79091|OMIM:605637|ICD10:G71.8|UMLS:CN205775 owl:Class MONDO:0032598 biolink:NamedThing developmental and epileptic encephalopathy, 68 tmpaxzxjjyw_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68|EIEE68|DEE68|epileptic encephalopathy, early infantile, 68 OMIM:618201 owl:Class UBERON:0016530 biolink:NamedThing parietal cortex tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021759 biolink:NamedThing acquired fructose intolerance Acquired fructose intolerance is a condition in which the body can not properly absorb the sugar, fructose. As a result, affected people may experience gastrointestinal symptoms, such as gas, abdominal pain, bloating and/or diarrhea, depending on the quantity of fructose consumed and the presence of other sugars ingested with it. Gastrointestinal symptoms related to acquired fructose intolerance appear to be more common in people who have an underlying functional bowel disorder such as irritable bowel syndrome. The underlying cause of the condition is poorly understood. It is distinct from the rare, genetic form of fructose intolerance (called hereditary fructose intolerance), which usually develops earlier in life and often affects more than one family member. Acquired fructose intolerance is generally managed with dietary modifications. tmpaxzxjjyw_mondo_relaxed.owl acquired fructose intolerance|fructose malabsorption|dietary fructose intolerance|intestinal fructose intolerance GARD:0002399|SCTID:413427002 https://rarediseases.info.nih.gov/diseases/2399/acquired-fructose-intolerance owl:Class MONDO:0009646 biolink:NamedThing Monosomy 7 myelodysplasia and leukemia syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl chromosome 7Q deletion|M7MLS1|monosomy 7 of bone marrow|myelodysplasia and leukemia syndrome with monosomy 7 MESH:C565370|UMLS:C1854978|OMIM:252270 owl:Class MONDO:0008175 biolink:NamedThing pacman dysplasia Pacman dysplasia is characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II. In order to make a definitive diagnosis, lysosomal storage should be investigated by electron microscopy, or enzyme assays should be performed. Familial recurrence can be easily detected by prenatal ultrasonography. This skeletal dysplasia is lethal. tmpaxzxjjyw_mondo_relaxed.owl epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome|epiphyseal stippling with osteoclastic hyperplasia|Pacman syndrome|pacman dysplasia GARD:0004189|ICD10:Q77.8|SCTID:722127006|Orphanet:1952|UMLS:C1833676|OMIM:167220|MESH:C538095 https://rarediseases.info.nih.gov/diseases/4189/pacman-dysplasia owl:Class MONDO:0011763 biolink:NamedThing T-box 24 tmpaxzxjjyw_mondo_relaxed.owl T-box 24|T-box type 24|Tbx24 OMIM:607044 owl:Class MONDO:0017925 biolink:NamedThing T-cell immunodeficiency with epidermodysplasia verruciformis T-cell immunodeficiency with epidermodysplasia verruciformis is a rare primary immunodeficiency characterized by increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. tmpaxzxjjyw_mondo_relaxed.owl T-cell immunodeficiency due to RHOH deficiency ICD10:D84.8|UMLS:CN714013|Orphanet:324294 owl:Class MONDO:0016622 biolink:NamedThing Melhem-Fahl syndrome Melhem-Fahl syndrome was described in two siblings born to consanguineous parents in 1985 and was characterized by the presence of 15 dorsal vertebrae and rib pairs. No other cases have been documented since the initial report. tmpaxzxjjyw_mondo_relaxed.owl fifteen dorsal vertebrae and rib pairs|Melhem Fahl syndrome SCTID:732263008|Orphanet:2482|GARD:0003462|MESH:C537238|ICD10:Q76.4|UMLS:C2931453 https://rarediseases.info.nih.gov/diseases/3462/melhem-fahl-syndrome owl:Class UBERON:0017654 biolink:NamedThing buccal gland tmpaxzxjjyw_mondo_relaxed.owl owl:Class HP:0004352 biolink:NamedThing Abnormal circulating purine concentration Any deviation from the normal concentration of a purine in the blood circulation. tmpaxzxjjyw_mondo_relaxed.owl Abnormal circulating purine level UMLS:C4025346 Purines are nitrogenous bases including the two nucleotide bases deoxyadenosine and deoxyguanosine. peter 2008-03-17T01:04:00Z human_phenotype owl:Class MONDO:0008826 biolink:NamedThing arthrogryposis-hyperkeratosis syndrome, lethal form Arthrogryposis-hyperkeratosis syndrome, lethal form is an arthrogryposis syndrome, described in two siblings to date, characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. tmpaxzxjjyw_mondo_relaxed.owl Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns|Johnston Aarons Schelley syndrome|Johnston-Aarons-Schelley syndrome|arthrogryposis with hyperkeratosis OMIM:208158|MESH:C535883|SCTID:726620005|Orphanet:1485|GARD:0003053|UMLS:C1859710 owl:Class MONDO:0023297 biolink:NamedThing guttate psoriasis Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body.It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immunesystem to sunlight and phototherapy. tmpaxzxjjyw_mondo_relaxed.owl guttate psoriasis|psoriasis guttate|psoriasis guttata ICD10:L40.4|ICD9:696.1|GARD:0010569|UMLS:C0343052|SCTID:37042000 https://rarediseases.info.nih.gov/diseases/10569/guttate-psoriasis owl:Class HGNC:13861 biolink:NamedThing LZTS1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010157 biolink:NamedThing Tryptophanuria with dwarfism tmpaxzxjjyw_mondo_relaxed.owl Tryptophanuria with dwarfism SCTID:12045002|GARD:0004268|MESH:C562658|UMLS:C0268473|OMIM:276100|ICD9:259.4 https://rarediseases.info.nih.gov/diseases/4268/tryptophanuria-with-dwarfism owl:Class MONDO:0033532 biolink:NamedThing Suleiman-El-Hattab syndrome tmpaxzxjjyw_mondo_relaxed.owl SULEIMAN-EL-HATTAB SYNDROME|SULEHS OMIM:618950 owl:Class HGNC:18601 biolink:NamedThing RTN4R tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009402 biolink:NamedThing acrofrontofacionasal dysostosis 2 A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. tmpaxzxjjyw_mondo_relaxed.owl acrofrontofacionasal dysostosis 2|acrofrontofacionasal syndrome type 2|hypertelorism hypospadias polysyndactyly syndrome|acrofrontofacionasal dysostosis type 2|Naguib syndrome|hypertelorism, hypospadias, and polysyndactyly syndrome|hypertelorism-hypospadias-polysyndactyly syndrome|acrofrontofacionasal dysostosis, severe|Naguib-Richieri-Costa syndrome|acrofrontofacionasal dysostosis with genitourinary anomalies|AFFN dysostosis 2 OMIM:239710|ICD10:Q87.8|GARD:0000287|MESH:C538332|SCTID:721835008|Orphanet:2211 owl:Class MONDO:0007695 biolink:NamedThing hairy palms and soles tmpaxzxjjyw_mondo_relaxed.owl thickened hair-bearing skin on the palms of both hands|hairy cutaneous malformations of palms and soles|circumscribed hairy Dysembryoplasia of palms|hairy palms and soles GARD:0008461|MESH:C535620|OMIM:139650 https://rarediseases.info.nih.gov/diseases/8461/hairy-palms-and-soles owl:Class HP:0001557 biolink:NamedThing Prenatal movement abnormality An abnormality of fetal movement. tmpaxzxjjyw_mondo_relaxed.owl Abnormal intrauterine movements UMLS:C1849510 Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'. HP:0007629 human_phenotype owl:Class MONDO:0007772 biolink:NamedThing pseudohypoaldosteronism type 2A tmpaxzxjjyw_mondo_relaxed.owl pseudohypoaldosteronism, type IIA|hypertensive hyperkalemia, familial|Gordon hyperkalemia-hypertension syndrome|PHA2A|hyperpotassemia and hypertension, familial Orphanet:88938|OMIM:145260|ICD10:I15.1|Orphanet:757|UMLS:C1449844|SCTID:703254001|UMLS:C1840389 owl:Class HGNC:6440 biolink:NamedThing KRT3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0018433 biolink:NamedThing acute myeloid leukemia with t(6;9)(p23;q34) Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. tmpaxzxjjyw_mondo_relaxed.owl AML with t(6;9)(p23;q34) Orphanet:402014|ICD10:C92.0 owl:Class MONDO:0016523 biolink:NamedThing bronchogenic cyst Bronchogenic cysts (BCs) are congenital malformations resulting from abnormal budding of the foregut and are most commonly found in the mediastinum. tmpaxzxjjyw_mondo_relaxed.owl bronchogenic cyst|bronchogenic cyst (disease) bronchogenic cyst (disease) MedDRA:10064585|GARD:0001025|ICD10:J98.4|Orphanet:2357|HP:0100730|MESH:D001994 owl:Class MONDO:0012236 biolink:NamedThing keratoconus 4 tmpaxzxjjyw_mondo_relaxed.owl KTCN4|keratoconus 4 OMIM:609271|MESH:C563752|UMLS:C1836473 owl:Class MONDO:0009888 biolink:NamedThing polycystic kidney, cataract, and congenital blindness tmpaxzxjjyw_mondo_relaxed.owl polycystic kidney, cataract, and congenital blindness MESH:C564882|OMIM:263100|UMLS:C1849771 owl:Class MONDO:0002074 biolink:NamedThing Behcet syndrome arthropathy Arthropathy resulting from Behcet's syndrome. tmpaxzxjjyw_mondo_relaxed.owl arthropathy in Behcet's syndrome|arthropathy in Behcet's syndrome involving multiple sites|arthropathy in Behcet's syndrome involving ankle and foot|arthropathy in Behcet's syndrome involving shoulder region|arthropathy in Behcet's syndrome involving pelvic region and thigh|arthropathy in Behcet's syndrome involving lower leg|arthropathy in Behcet's syndrome involving hand|arthropathy in Behcet's syndrome involving forearm|Behcet's syndrome arthropathy|Behcet syndrome arthropathy|arthropathy in Behcet's syndrome involving upper arm UMLS:C0157770|ICD9:711.26|SCTID:62918002|ICD9:711.2|NCIT:C35225|DOID:1670|ICD9:711.23|ICD9:711.20|ICD9:711.28 owl:Class MONDO:0024349 biolink:NamedThing pityriasis alba tmpaxzxjjyw_mondo_relaxed.owl pityriasis alba ICD9:696.5|SCTID:402296004 owl:Class MONDO:0001268 biolink:NamedThing gingival recession A loss of gum tissue resulting in an exposure of the roots of the teeth. tmpaxzxjjyw_mondo_relaxed.owl gingival recession|localized gingival recession|severe gingival recession|gingival recession, localized|minimal gingival recession|moderate gingival recession|gingival recession, unspecified MESH:D005889|NCIT:C82068|UMLS:C0266916|ICD9:523.23|ICD9:523.20|ICD9:523.22|ICD9:523.21|ICD9:523.24|ICD10:K06.0|UMLS:C0017572|SCTID:59898000|DOID:1134|ICD9:523.2 owl:Class MONDO:0003921 biolink:NamedThing posterior foramen magnum meningioma A meningioma that affects the posterior foramen magnum. tmpaxzxjjyw_mondo_relaxed.owl meningioma of the posterior Foramen magnum|meningioma of posterior Foramen magnum UMLS:C1335449|NCIT:C5282|DOID:6553 owl:Class GO:0099004 biolink:NamedThing calmodulin dependent kinase signaling pathway Any signal transduction pathway involving calmodulin dependent kinase activity. tmpaxzxjjyw_mondo_relaxed.owl CAMK signaling pathway owl:Class MONDO:0019327 biolink:NamedThing phakomatosis spilorosea tmpaxzxjjyw_mondo_relaxed.owl phakomatosis pigmentovascularis type 3 SCTID:703285005|UMLS:CN205986|ICD9:759.6|Orphanet:79485|ICD10:Q85.8 owl:Class MONDO:0012404 biolink:NamedThing systemic lupus erythematosus, susceptibility to, 8 tmpaxzxjjyw_mondo_relaxed.owl systemic lupus erythematosus, susceptibility to, 8|SLEB8 OMIM:610066 owl:Class MONDO:0020349 biolink:NamedThing acute motor axonal neuropathy Acute motor axonal neuropathy (AMAN) is a pure motor axonal form of Guillain-BarrC) syndrome (GBS). tmpaxzxjjyw_mondo_relaxed.owl acute pure motor Guillain-Barré syndrome|acute pure motor GBS|AMAN|acute pure motor Guillain-Barre syndrome Orphanet:98918|NCIT:C116929|ICD10:G61.0|UMLS:C3890941|UMLS:CN207196|SCTID:715770009 owl:Class MONDO:0004644 biolink:NamedThing subacute monocytic leukemia tmpaxzxjjyw_mondo_relaxed.owl ICD9:206.2|SCTID:188746008|ICD9:206.20|DOID:8696|UMLS:C0152275 owl:Class MONDO:0018885 biolink:NamedThing orbital leiomyoma Orbital leiomyoma is a rare benign smooth muscle tumor arising from the walls of orbital vessels characterized by its slow growth and well encapsulated nature. It is usually located in an extraconal position, commonly manifesting with painless proptosis. The tumor is composed of spindle cells arranged in a fibrous stroma rich in dilated sinusoidal capillaries. The nuclei of tumor cells are oval with blunted ends and there are no mitotic figures. Orbital leiomyoma when excised has excellent prognosis for vision and life. One case of orbital leiomyosarcoma that possibly represents sarcomatous change in an orbital leiomyoma following radiation treatment has been reported. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:52994|UMLS:CN205236|ICD10:D31.6|UMLS:C4305000|SCTID:719045009 owl:Class HGNC:3007 biolink:NamedThing DPM3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0020436 biolink:NamedThing atrial septal defect, sinus venosus type tmpaxzxjjyw_mondo_relaxed.owl sinus venosus atrial septal defects|atrial septal defect sinus venosus|sinus venosus ASD|ASD, sinus venosus type Orphanet:99105|ICD10:Q21.1|SCTID:95268002|GARD:0010696|MESH:C548009 owl:Class MONDO:0020384 biolink:NamedThing Niemann-Pick disease type E Niemann-Pick disease, type E is a poorly defined adult-onset and non-neuronopathic form of Niemann-Pick disease. tmpaxzxjjyw_mondo_relaxed.owl SCTID:73399005|Orphanet:99022|ICD10:E75.2|OMIM:607616 owl:Class MONDO:0015608 biolink:NamedThing acute myeloid leukemia and myelodysplastic syndromes related to radiation Acute myeloid leukemia and myelodysplastic syndromes related to radiation represent a subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure. tmpaxzxjjyw_mondo_relaxed.owl AML and myelodysplastic syndromes related to radiation UMLS:CN199981|Orphanet:164726 owl:Class MONDO:0007860 biolink:NamedThing focal palmoplantar and gingival keratoderma Focal palmoplantar and gingival keratoderma is a very rare form of focal palmoplantar keratoderma characterized by painful circumscribed hyperkeratotic lesions on weight-bearing areas of soles, moderate focal hyperkeratosis of palmar pressure-related areas and an asymptomatic leukokeratosis confined to labial- and lingual- attached gingiva. Additional occasional features may include hyperhidrosis, follicular keratosis and extended oral mucosa involvement. tmpaxzxjjyw_mondo_relaxed.owl keratosis, focal palmoplantar and gingival|keratosis focal palmoplantar gingival|focal palmoplantar and gingival hyperkeratosis|focal palmoplantar and oral mucosa hyperkeratosis|focal palmoplantar and gingival hyperkeratosis syndrome SCTID:764963007|Orphanet:2200|MESH:C536157|OMIM:148730|GARD:0003098|UMLS:C1835650|ICD10:Q82.8 https://rarediseases.info.nih.gov/diseases/3098/focal-palmoplantar-and-gingival-keratoderma owl:Class MONDO:0018834 biolink:NamedThing adenylosuccinate synthetase-like 1-related distal myopathy tmpaxzxjjyw_mondo_relaxed.owl ADSSL1-related distal myopathy Orphanet:482601 owl:Class ECTO:1000019 biolink:NamedThing exposure to high pressure environment A exposure event involving the interaction of an exposure receptor to high pressure environment. tmpaxzxjjyw_mondo_relaxed.owl high pressure environment exposure owl:Class MONDO:0044070 biolink:NamedThing candidemia A form of invasive candidiasis where species of candida are present in the blood. tmpaxzxjjyw_mondo_relaxed.owl candidemia|Candidemias EFO:1001311|UMLS:C0877445|SCTID:432261003|MESH:D058387 owl:Class MONDO:0023605 biolink:NamedThing Laugier-Hunziker syndrome tmpaxzxjjyw_mondo_relaxed.owl Laugier-Hunziker syndrome|Laugier and Hunziker pigmentation|LHS UMLS:C0406425|GARD:0009669|SCTID:238706002|ICD9:528.9 https://rarediseases.info.nih.gov/diseases/9669/laugier-hunziker-syndrome owl:Class HGNC:10721 biolink:NamedThing SELP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022899 biolink:NamedThing crawfurd syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001607 https://rarediseases.info.nih.gov/diseases/1607/crawfurd-syndrome owl:Class MONDO:0015786 biolink:NamedThing Prader-Willi syndrome due to imprinting mutation tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200368|ICD10:Q87.1|Orphanet:177910 owl:Class MONDO:0043131 biolink:NamedThing michels caskey syndrome tmpaxzxjjyw_mondo_relaxed.owl Mullerian aplasia with unilateral hypoplasia of the thumbs and skeletal spine deformities|Mullerian aplasia with hypoplastic thumbs GARD:0003590|MESH:C537576|UMLS:C2931537 owl:Class MONDO:0012331 biolink:NamedThing migraine with aura, susceptibility to, 9 tmpaxzxjjyw_mondo_relaxed.owl migraine with aura, susceptibility to, 9|migraine with aura, susceptibility to, type 9|Mgr9 OMIM:609670 owl:Class MONDO:0054699 biolink:NamedThing proteasome-associated autoinflammatory syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl PRAAS3|proteasome-associated autoinflammatory syndrome 3|proteasome-associated autoinflammatory syndrome 3, digenic OMIM:617591 owl:Class MONDO:0030064 biolink:NamedThing episodic ataxia, type 9 tmpaxzxjjyw_mondo_relaxed.owl EPISODIC ATAXIA, TYPE 9|EA9|episodic ataxia, type 9 OMIM:618924 owl:Class CL:0002460 biolink:NamedThing CD8alpha-negative thymic conventional dendritic cell A conventional thymic dendritic cell that is CD8alpha-negative. tmpaxzxjjyw_mondo_relaxed.owl DC.8-.Th tmeehan 2010-11-23T10:58:53Z cell owl:Class MONDO:0009349 biolink:NamedThing holoprosencephaly 1 The most severe form of holoprosencephaly in which there is a complete absence of midline forebrain division resulting in the presence of fused hemispheres and a single ventricle (alobar holoprosencephaly). It is mapped to chromosome 21q22. tmpaxzxjjyw_mondo_relaxed.owl holoprosencephaly, familial Alobar|Hpe, familial|Demyer sequence|holoprosencephaly 1|arhinencephaly|cyclopia|holoprosencephaly type 1|isolated arhinencephaly|HPE1 NCIT:C75476|UMLS:C0079541|ICD10:Q04.1|DOID:0110881|Orphanet:268936|OMIM:236100|Orphanet:2162 owl:Class MONDO:0022866 biolink:NamedThing corneal dystrophy pigmentary anomaly malabsorption tmpaxzxjjyw_mondo_relaxed.owl GARD:0001530 https://rarediseases.info.nih.gov/diseases/1530/corneal-dystrophy-pigmentary-anomaly-malabsorption owl:Class MONDO:0003545 biolink:NamedThing intradural extramedullary spinal canal neoplasm A neoplasm that occurs within the spinal canal in the space between the spinal cord and the dura mater. Representative examples include meningioma, neurofibroma, and sarcoma. Signs and symptoms include local and radicular pain, weakness and spinal cord compression. tmpaxzxjjyw_mondo_relaxed.owl intradural extramedullary neoplasm of spinal canal|spinal canal intradural extramedullary neoplasm|intradural extramedullary spinal tumors|intradural extramedullary neoplasm of the spinal canal|intradural extramedullary spinal canal neoplasm|intradural extramedullary spinal canal tumors|intradural extramedullary spinal neoplasms|intradural extramedullary tumor of spinal canal|intradural extramedullary spinal canal tumor|intradural extramedullary tumor of the spinal canal DOID:5615|UMLS:C1334255|NCIT:C5135 owl:Class MONDO:0006988 biolink:NamedThing sulfhemoglobinemia A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed) tmpaxzxjjyw_mondo_relaxed.owl Sulfemoglobinemia SCTID:32117000|EFO:1001200|MedDRA:10042481|UMLS:C0038732|MESH:D013436|DOID:12451 owl:Class MONDO:0018311 biolink:NamedThing acromelanosis Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life. tmpaxzxjjyw_mondo_relaxed.owl progressive acromelanosis GARD:0004500|ICD9:709.09|ICD10:L81.4|Orphanet:39|SCTID:239089006 https://rarediseases.info.nih.gov/diseases/4500/acromelanosis owl:Class MONDO:0006907 biolink:NamedThing pilar sheath acanthoma A benign, small, papular or nodular skin neoplasm that usually arises above the upper lip. It is characterized by an epithelial proliferation with a central cavity. The cavity wall is lined with keratinocytes. tmpaxzxjjyw_mondo_relaxed.owl acanthoma of the Pilar sheath|Pilar sheath acanthoma|Infundibuloisthmicoma|acanthoma of Pilar sheath NCIT:C4468|EFO:1001107|MESH:D049309|SCTID:254693008|UMLS:C0346005|DOID:4322 owl:Class MONDO:0001583 biolink:NamedThing diabetic polyneuropathy tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus with polyneuropathy|polyneuropathy in diabetes UMLS:C0271680|ICD10:G63.2|ICD9:357.2|MESH:D003929|SCTID:49455004|DOID:12785 owl:Class MONDO:0009898 biolink:NamedThing polysaccharide, storage of unusual tmpaxzxjjyw_mondo_relaxed.owl polysaccharide, storage of unusual MESH:C564877|OMIM:263600 owl:Class MONDO:0016299 biolink:NamedThing holoprosencephaly-caudal dysgenesis syndrome A central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201097|Orphanet:2165|ICD10:Q04.2 owl:Class MONDO:0000572 biolink:NamedThing recombinase activating gene 1 deficiency A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. tmpaxzxjjyw_mondo_relaxed.owl recombinase activating gene 1 deficiency DOID:0060011 owl:Class MONDO:0016284 biolink:NamedThing primitive neuroectodermal tumor of the cervix uteri Primitive neuroectodermal tumor of the cervix uteri is a rare cancer of cervix uteri derived from neural crest cells, histologically composed of small, round neoplatic cells with variable degree of neural, glial and ependymal differentiation. Macroscopically, the tumor is often a large, soft, poorly circumscribed mass with infiltrative borders and necrotic areas. It presents with dysfuntional vaginal bleeding or discharge, lower abdominal pain and uterine enlargement. tmpaxzxjjyw_mondo_relaxed.owl malignant peripheral neuroectodermal tumor of the cervix uteri|peripheral neuroectodermal cancer of cervix uteri|cervical peripheral neuroectodermal cancer|cervical malignant peripheral neuroectodermal tumor ICD10:C53.0|Orphanet:213812|UMLS:CN201074|ICD10:C53.1|ICD10:C53.8 owl:Class HGNC:6547 biolink:NamedThing LDLR tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0009399 biolink:NamedThing hyperphosphatemia, polyuria, and seizures tmpaxzxjjyw_mondo_relaxed.owl hyperphosphatemia, polyuria, and seizures OMIM:239350|MESH:C565494|UMLS:C1855922 owl:Class MONDO:0006397 biolink:NamedThing renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions A group of kidney carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns. tmpaxzxjjyw_mondo_relaxed.owl renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions|renal cell cancer associated with Xp11.2 translocations/TFE3 Gene fusions|TFE3-Rearranged renal cell carcinoma|tRCC|translocation-associated renal cell carcinoma|Xp11.2 translocation-related renal cell carcinoma ONCOTREE:TRCC|UMLS:C1337036|ICDO:0000/0|NCIT:C27891|EFO:1000508 owl:Class MONDO:0013703 biolink:NamedThing intellectual disability, autosomal recessive 33 tmpaxzxjjyw_mondo_relaxed.owl MRT33|intellectual disability, autosomal recessive 33|mental retardation, autosomal recessive 33 Orphanet:88616|UMLS:C3280539|OMIM:614341 owl:Class MONDO:0011079 biolink:NamedThing rhizomelic dysplasia, Patterson-Lowry type Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia. tmpaxzxjjyw_mondo_relaxed.owl rhizomelic dysplasia Patterson Lowry type|rhizomelic dysplasia, Patterson-Lowry type|Patterson-Lowry rhizomelic dysplasia|Patterson Lowry syndrome Orphanet:2831|MESH:C537609|SCTID:715505002|OMIM:601438|GARD:0004703|ICD10:Q78.8|UMLS:C1832359 https://rarediseases.info.nih.gov/diseases/4703/rhizomelic-dysplasia-patterson-lowry-type owl:Class MONDO:0009321 biolink:NamedThing hallux varus-preaxial polysyndactyly syndrome Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980. tmpaxzxjjyw_mondo_relaxed.owl Kleiner-Holmes syndrome|Kleiner Holmes syndrome|hallux varus and preaxial polysyndactyly MESH:C536885|ICD10:Q74.2|GARD:0003118|Orphanet:2110|UMLS:C1856197|OMIM:234280 owl:Class MONDO:0012823 biolink:NamedThing colorectal cancer, susceptibility to, 7 tmpaxzxjjyw_mondo_relaxed.owl colorectal cancer, susceptibility to, 7|colorectal cancer, susceptibility to, on chromosome 11|CRCS7 OMIM:612232 owl:Class MONDO:0004836 biolink:NamedThing intravascular fasciitis A rare self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the vessels. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl intravascular pseudosarcomatous fasciitis|intravascular nodular fasciitis ICD9:728.79|SCTID:254738007|NCIT:C4729|UMLS:C0432529|DOID:9603 owl:Class MONDO:0007623 biolink:NamedThing flushing of ears and somnolence tmpaxzxjjyw_mondo_relaxed.owl flushing of ears and somnolence UMLS:C1851055|OMIM:136200 owl:Class MONDO:0042924 biolink:NamedThing Vagneur-Triolle-Ripert syndrome tmpaxzxjjyw_mondo_relaxed.owl Vagneur Triolle Ripert syndrome|hypertelorism, short midface, arachnodactyly, coloboma of iris and delayed bone age GARD:0000271 owl:Class MONDO:0022405 biolink:NamedThing retinal ciliopathy due to mutation in nephronophthisis gene tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156180 owl:Class PCO:0000031 biolink:NamedThing organismal entity A material entity that is one or more organisms, viruses or viroids. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012242 biolink:NamedThing syncope, familial vasovagal tmpaxzxjjyw_mondo_relaxed.owl syncope, familial Neurocardiogenic|familial neurocardiogenic syncope|syncope familial neurocardiogenic|VVS|syncope, familial VASOVAGAL|familial vasovagal syncope UMLS:C1836438|MESH:C536849|GARD:0009502|OMIM:609289 owl:Class MONDO:0010102 biolink:NamedThing taurodontia-absent teeth-sparse hair syndrome This syndrome is characterised by congenital absence of the teeth, and sparse or absent hair. Taurodontia is also present in the majority of cases. The syndrome has been described in less than 15 patients from different families. tmpaxzxjjyw_mondo_relaxed.owl taurodontia, absent teeth, sparse hair syndrome|teeth, congenital absence of, with taurodontia and sparse hair|taurodontia, absent teeth, and sparse hair MESH:C536945|Orphanet:2731|GARD:0005118|OMIM:272980|UMLS:C1848909 https://rarediseases.info.nih.gov/diseases/5118/taurodontia-absent-teeth-sparse-hair-syndrome owl:Class MONDO:0017692 biolink:NamedThing generalized galactose epimerase deficiency tmpaxzxjjyw_mondo_relaxed.owl generalized GALE-D|generalized epimerase deficiency galactosemia|generalized UDP-galactose-4-epimerase deficiency|generalized GALE deficiency|generalized uridine diphosphate galactose-4-epimerase deficiency UMLS:C0574089|Orphanet:308487|SCTID:297237003|ICD10:E74.2 owl:Class MONDO:0033091 biolink:NamedThing ichthyosis, congenital, autosomal recessive 14 tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive congenital ichthyosis 14|ichthyosis, congenital, autosomal recessive 14|ARCI14 OMIM:617571|DOID:0080258|UMLS:CN317536 owl:Class MONDO:0007111 biolink:NamedThing aneurysm, intracranial berry type 1 tmpaxzxjjyw_mondo_relaxed.owl aneurysm, intracranial berry, 1|aneurysmal subarachnoid hemorrhage, familial|ANIB1 OMIM:105800|UMLS:C1862932|MESH:C566284 owl:Class MONDO:0015599 biolink:NamedThing atopic keratoconjunctivitis Atopic keratoconjunctivitis is a rare and chronic allergic disease of the cornea and conjunctiva occurring in all age groups characterized by severe itching and burning sensation, conjunctival injection, photophobia and edema with serious cases leading to ulceration of the cornea which can result in blindness. It is often associated with atopic dermatitis. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1274788|Orphanet:163934|SCTID:403434009|ICD9:370.49|MedDRA:10069664|ICD10:H16.2 owl:Class MONDO:0007509 biolink:NamedThing ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl ECTD10A|ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|hypohidrotic ectodermal dysplasia autosomal dominant|ectodermal dysplasia, hypohidrotic, autosomal dominant|ectodermal dysplasia hypohidrotic autosomal dominant OMIM:129490|DOID:0111663|Orphanet:1810|UMLS:C3888065|Orphanet:238468|GARD:0002048 owl:Class ECTO:4000024 biolink:NamedThing exposure to increased air pressure A exposure event involving the interaction of an exposure receptor to increased amount of pressure of air. tmpaxzxjjyw_mondo_relaxed.owl exposure to increased amount in pressure of air owl:Class MONDO:0008932 biolink:NamedThing premature centromere division tmpaxzxjjyw_mondo_relaxed.owl premature centromere division|X-chromosome centromere peculiarity|PCD OMIM:212790|UMLS:C1859308 owl:Class MONDO:0007706 biolink:NamedThing cavernous hemangiomas of face-supraumbilical midline raphe syndrome tmpaxzxjjyw_mondo_relaxed.owl sternal nonunion with supraumbilical raphe|raphe, supraumbilical Midline, with cavernous Facial hemangiomas|hemangiomas, cavernous, of face and supraumbilical MIDLINE raphe|supraumbilical midabdominal raphe and facial cavernous hemangiomas|hemangiomas cavernous of face supraumbilical midline raphe SCTID:234140000|Orphanet:2124|UMLS:C0472694|MESH:C538144|GARD:0008524|ICD10:D18.0|OMIM:140850 owl:Class MONDO:0010219 biolink:NamedThing xylosidase deficiency tmpaxzxjjyw_mondo_relaxed.owl xylosidase deficiency MESH:C564730|OMIM:278900|UMLS:C1848407 owl:Class MONDO:0016437 biolink:NamedThing late-onset focal dermal elastosis Late-onset focal dermal elastosis is a rare, acquired, dermis elastic tissue disorder characterized by a pseudoxanthoma elasticum-like papular eruption consisting of multiple, slowly progressive, asymptomatic, 2-5 mm, white to yellowish, non-follicular papules (that tend to form cobblestone plaques) predominantly distributed over the neck, axillae and flexural areas, with no systemic involvement. Skin biopsy reveals a focal increase of normal-appearing elastic tissue in the reticular dermis with no calcium deposits. tmpaxzxjjyw_mondo_relaxed.owl PXE-like late-onset focal dermal elastosis|pseudoxanthoma-like late-onset focal dermal elastosis Orphanet:228227 owl:Class MONDO:0001998 biolink:NamedThing Foster-Kennedy syndrome Conditions which produce injury or dysfunction of the second cranial or optic nerve, which is generally considered a component of the central nervous system. Damage to optic nerve fibers may occur at or near their origin in the retina, at the optic disk, or in the nerve, optic chiasm, optic tract, or lateral geniculate nuclei. Clinical manifestations may include decreased visual acuity and contrast sensitivity, impaired color vision, and an afferent pupillary defect. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152112|DOID:14555|ICD10:H47.14|EFO:1001330|SCTID:87764000|MESH:D009901|ICD9:377.04 owl:Class MONDO:0010801 biolink:NamedThing spondylocamptodactyly syndrome Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. tmpaxzxjjyw_mondo_relaxed.owl spondylo camptodactyly syndrome|camptodactyly with cervical platyspondyly|spondylocamptodactyly GARD:0004972|SCTID:716231009|UMLS:C1838781|MESH:C535779|OMIM:600000|Orphanet:3180|UMLS:C4274762|ICD10:Q77.8 owl:Class HGNC:1424 biolink:NamedThing CAD tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:11946 biolink:NamedThing TNNI2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0022178 biolink:NamedThing chromosome 13q-mosaicism tmpaxzxjjyw_mondo_relaxed.owl Mosiacism of chromosome 13q MESH:C535486|UMLS:CN037259 owl:Class MONDO:0042601 biolink:NamedThing Samson-Gardner syndrome tmpaxzxjjyw_mondo_relaxed.owl craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia|Samson Gardner syndrome UMLS:C2931448|MESH:C537230|GARD:0000151 owl:Class MONDO:0033639 biolink:NamedThing mitochondrial complex 4 deficiency, nuclear type 10 tmpaxzxjjyw_mondo_relaxed.owl MC4DN10 OMIM:619053 owl:Class HGNC:2235 biolink:NamedThing KLF6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:30304 biolink:NamedThing RGS9BP tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007162 biolink:NamedThing asymmetric short stature syndrome tmpaxzxjjyw_mondo_relaxed.owl asymmetric short stature syndrome UMLS:C1862458|MESH:C566248|OMIM:108450 owl:Class HP:0000830 biolink:NamedThing Anterior hypopituitarism A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4025821 human_phenotype owl:Class HGNC:11118 biolink:NamedThing SMN2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0013232 biolink:NamedThing brachydactylous dwarfism, Mseleni type Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD. tmpaxzxjjyw_mondo_relaxed.owl brachydactylous dwarfism Mseleni type|Mseleni JOINT disease|Mseleni joint disease|brachydactylous dwarfs of Mseleni GARD:0000960|OMIM:613342|ICD10:Q77.7|Orphanet:2619|UMLS:C2931420|MESH:C537086|SCTID:715470008 owl:Class MONDO:0014959 biolink:NamedThing mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl MTDPS12A|mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A|mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant OMIM:617184|DOID:0080130|UMLS:C4310676 owl:Class MONDO:0017061 biolink:NamedThing closed iniencephaly tmpaxzxjjyw_mondo_relaxed.owl SCTID:203927003|Orphanet:268366|ICD10:Q00.2 owl:Class MONDO:0017478 biolink:NamedThing amelia of upper limb, unilateral tmpaxzxjjyw_mondo_relaxed.owl Orphanet:295053|ICD10:Q71.0 owl:Class MONDO:0008400 biolink:NamedThing salivary duct calculi Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts. tmpaxzxjjyw_mondo_relaxed.owl salivary duct calculi|parotid duct calculi|submandibular duct calculi OMIM:181010|MESH:D012465 owl:Class MONDO:0009836 biolink:NamedThing pancreatitis, sclerosing cholangitis, and sicca complex tmpaxzxjjyw_mondo_relaxed.owl pancreatitis, sclerosing cholangitis, and sicca complex UMLS:C1850080|MESH:C564906|OMIM:260480 owl:Class MONDO:0010944 biolink:NamedThing mitochondrial import-stimulating factor tmpaxzxjjyw_mondo_relaxed.owl MSF|mitochondrial import-stimulating factor OMIM:600851 owl:Class HP:0001651 biolink:NamedThing Dextrocardia The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. tmpaxzxjjyw_mondo_relaxed.owl Heart tip and four chambers point towards right side of body|Thoracic situs inversus Fyler:0110|ICD-10:Q24.0|UMLS:C0011813|Fyler:110|EPCC:02.01.02|MSH:D003914|SNOMEDCT_US:27637000 human_phenotype owl:Class MONDO:0032622 biolink:NamedThing mitochondrial complex 1 deficiency, nuclear type 17 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17|MC1DN17 OMIM:618239 owl:Class MONDO:0006237 biolink:NamedThing granulocytic sarcoma A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl granulocytic sarcoma|sarcoma, granulocytic, malignant NCIT:C35815|EFO:1000286 owl:Class MONDO:0030048 biolink:NamedThing harderoporphyria tmpaxzxjjyw_mondo_relaxed.owl HARDEROPORPHYRIA|HARPO|harderoporphyria OMIM:618892 owl:Class MONDO:0012660 biolink:NamedThing susceptibility to visceral leishmaniasis, 2 tmpaxzxjjyw_mondo_relaxed.owl KAZA2|kala-AZAR, susceptibility to, 2|leishmaniasis, visceral, susceptibility to, 2 OMIM:611381 owl:Class MONDO:0022647 biolink:NamedThing cardiomelic syndrome stratton Koehler type tmpaxzxjjyw_mondo_relaxed.owl GARD:0001099 https://rarediseases.info.nih.gov/diseases/1099/cardiomelic-syndrome-stratton-koehler-type owl:Class MONDO:0018417 biolink:NamedThing autosomal recessive spastic paraplegia type 60 tmpaxzxjjyw_mondo_relaxed.owl SPG60 ICD10:G11.4|UMLS:CN226122|Orphanet:401800 owl:Class MONDO:0001138 biolink:NamedThing angiodysplasia of intestine A angiodysplasia that involves the intestine. tmpaxzxjjyw_mondo_relaxed.owl intestine angiodysplasia DOID:10846|SCTID:235853006|ICD9:569.85|UMLS:C0267367|ICD9:569.84 owl:Class MONDO:0008194 biolink:NamedThing Paramolar tubercle of bolk tmpaxzxjjyw_mondo_relaxed.owl bolk cusp|Paramolar tubercle of bolk SCTID:78305006|OMIM:168200 owl:Class MONDO:0030961 biolink:NamedThing Olmsted syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl Olmsted syndrome 2|OLMS2|palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 2 OMIM:619208 owl:Class MONDO:0010774 biolink:NamedThing striatonigral degeneration, infantile, mitochondrial tmpaxzxjjyw_mondo_relaxed.owl striatonigral degeneration, infantile, mitochondrial|infantile bilateral striatal Necrosis, mitochondrial|bilateral striatal Necrosis, infantile, mitochondrial UMLS:C1839022|OMIM:500003|MESH:C564025|Orphanet:225154|Orphanet:1576 owl:Class UBERON:0006532 biolink:NamedThing oblique extraocular muscle tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001033 biolink:NamedThing mycotic corneal ulcer tmpaxzxjjyw_mondo_relaxed.owl ICD10:H16.06|SCTID:397977001|ICD9:370.05|UMLS:C0155071|DOID:10440 owl:Class GO:0006101 biolink:NamedThing citrate metabolic process The chemical reactions and pathways involving citrate, 2-hydroxy-1,2,3-propanetricarboyxlate. Citrate is widely distributed in nature and is an important intermediate in the TCA cycle and the glyoxylate cycle. tmpaxzxjjyw_mondo_relaxed.owl citrate metabolism owl:Class MONDO:0012629 biolink:NamedThing paroxysmal nonkinesigenic dyskinesia 2 A dystonia characterized by autosomal dominant inheritance of attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has material basis in variation in the chromosome region 2q31. tmpaxzxjjyw_mondo_relaxed.owl dystonia 20|paroxysmal nonkinesigenic dyskinesia 2|paroxysmal nonkinesigenic dyskinesia type 2|PNKD2 OMIM:611147|DOID:0090047|UMLS:C1970149|Orphanet:98810|ICD10:G24.8|MESH:C567001 owl:Class MONDO:0006241 biolink:NamedThing hepatic granuloma A granuloma located in the liver. tmpaxzxjjyw_mondo_relaxed.owl SCTID:714253009|NCIT:C4936|EFO:1000291|ICD9:572.8|UMLS:C0745754 Editor note: check neoplasm classification owl:Class MONDO:0005783 biolink:NamedThing hemopericardium An accumulation of blood within the pericardial sac. tmpaxzxjjyw_mondo_relaxed.owl haemopericardium|hemopericardium (disease)|hemopericardium hemopericardium (disease) UMLS:C0019064|ICD9:423.0|NCIT:C111644|EFO:0007298|HP:0011851|DOID:11482|SCTID:23412002 owl:Class SO:0000803 biolink:NamedThing assortment_derived_aneuploid A multi-chromosome aberration generated by reassortment of other aberration components; presumed to have a deficiency or a duplication. tmpaxzxjjyw_mondo_relaxed.owl assortment derived aneuploid owl:Class MONDO:0054801 biolink:NamedThing erythrocytosis, familial, 6 tmpaxzxjjyw_mondo_relaxed.owl erythrocytosis, FAMILIAL, 6|polycythemia, Beta-globin type|ECYT6|erythrocytosis, Beta-globin type DOID:0111632|UMLS:CN244941|OMIM:617980 owl:Class MONDO:0013024 biolink:NamedThing chronic thromboembolic pulmonary hypertension Chronic thromboembolic pulmonary hypertension (CTEPH) is characterized by the persistence of thromboemboli in the form of organized tissue obstructing the pulmonary arteries. The consequence is an increase in pulmonary vascular resistance (PVR) resulting in pulmonary hypertension (PH) and progressive right heart failure. tmpaxzxjjyw_mondo_relaxed.owl Cteph, Dvt-negative, susceptibility to|pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to|CTEPH ICD9:415.19|MedDRA:10068739|ICD9:416.8|UMLS:C2363973|Orphanet:70591|OMIM:612862|GARD:0013124|SCTID:233947005 https://rarediseases.info.nih.gov/diseases/13124/chronic-thromboembolic-pulmonary-hypertension owl:Class MONDO:0009763 biolink:NamedThing obesity-hypoventilation syndrome Hypoventilation syndrome in very obese persons with excessive adipose tissue around the abdomen and diaphragm is characterized by diminished to absent ventilatory chemoresponsiveness; chronic hypoxia; hypercapnia; polycythemia; and long periods of sleep during day and night (hypersomnolence). It is a condition often related to obstructive sleep apnea but can occur separately. tmpaxzxjjyw_mondo_relaxed.owl Pickwickian syndrome|obesity-hypoventilation syndrome SCTID:190966007|OMIM:257500|ICD9:786.09|UMLS:C0031880|MESH:D010845 owl:Class MONDO:0011073 biolink:NamedThing diabetes mellitus, transient neonatal, 1 tmpaxzxjjyw_mondo_relaxed.owl Tndm|diabetes mellitus, transient neonatal, type 1|diabetes mellitus, transient neonatal, 1|Tndm1|Dmtn OMIM:601410|SCTID:609579009|MESH:C563322|Orphanet:99886 owl:Class MONDO:0023038 biolink:NamedThing eccentrochondrodysplasia tmpaxzxjjyw_mondo_relaxed.owl GARD:0006314|UMLS:C0026707 https://rarediseases.info.nih.gov/diseases/6314/eccentrochondrodysplasia owl:Class MONDO:0018126 biolink:NamedThing progressive myoclonic epilepsy with dystonia A rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli. tmpaxzxjjyw_mondo_relaxed.owl PMED|progressive myoclonus epilepsy with dystonia ICD10:G40.3|OMIM:615338|SCTID:763349002|Orphanet:352596 owl:Class MONDO:0011300 biolink:NamedThing myopia 3, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl myopia 3, autosomal dominant|MYP3 OMIM:603221|MESH:C566397|UMLS:C1864111 owl:Class MONDO:0009539 biolink:NamedThing lymphoblastic leukemia, acute, with lymphomatous features tmpaxzxjjyw_mondo_relaxed.owl lymphomatous All|lall|lymphoblastic leukemia, acute, with lymphomatous features Orphanet:513|OMIM:247640|UMLS:C1855472|MESH:C565429 owl:Class MONDO:0100226 biolink:NamedThing parasomnia, sleepwalking type A disorder in which a series of complex behaviors are initiated during slow-wave (non-REM) sleep and result in walking during sleep. It is a parasomnia, defined as a clinical disorder resulting in undesirable physical phenomena that occur predominantly during sleep. Parasomnias are not abnormalities of the processes responsible for sleep and wake states. Sleepwalking is more common in childhood (up to 26%), and usually resolves in adolescence; however, it can persist into adulthood (3%). tmpaxzxjjyw_mondo_relaxed.owl parasomnia, sleep terrors type|PSMNSW|sleepwalking disorder|parasomnia, sleepwalking type|somnambulism|sleep walking|sleep walking disorder MESH:D013009|OMIM:613938 Editor note: Consider splitting this into a separate Mendelian form of this disease that is equivalent to the OMIM term. https://github.com/monarch-initiative/mondo/issues/2083 owl:Class MONDO:0042913 biolink:NamedThing Schrander-stumpel-Theunissen-Hulsmans syndrome tmpaxzxjjyw_mondo_relaxed.owl Schrander-Stumpel Theunissen Hulsmans syndrome|vitiligo, psychomotor retardation, cleft palate and facial dysmorphism|vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism UMLS:C2931275|MESH:C536639|GARD:0000256 owl:Class MONDO:0009729 biolink:NamedThing nephropathy - deafness - hyperparathyroidism syndrome Nephropathy-deafness-hyperparathyroidism syndrome is characterised by renal failure without haematuria, parathyroid hyperplasia and sensorineural deafness. It has been described in five children born to consanguineous patents. The mode of inheritance appears to be autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl Edwards-Patton-Dilly syndrome|Edwards Patton Dilly syndrome|nephropathy, deafness, and hyperparathyroidism|nephropathy - deafness - hyperparathyroidism OMIM:256120|SCTID:724093004|UMLS:C1850553|MESH:C536401|Orphanet:2668|GARD:0003940|ICD10:Q87.8 https://rarediseases.info.nih.gov/diseases/3940/nephropathy-deafness-and-hyperparathyroidism owl:Class MONDO:0011219 biolink:NamedThing Fried's tooth and nail syndrome tmpaxzxjjyw_mondo_relaxed.owl ECTD8|ectodermal dysplasia 8, hair/tooth/nail type SCTID:239020008|DOID:0111661|OMIM:602401|UMLS:C0406715|Orphanet:99672 owl:Class MONDO:0012597 biolink:NamedThing prostate cancer, hereditary, 9 tmpaxzxjjyw_mondo_relaxed.owl HPC9|prostate cancer, hereditary, 9|prostate cancer, hereditary, type 9 UMLS:C1970250|OMIM:610997|MESH:C567031 owl:Class MONDO:0019206 biolink:NamedThing sparse hair-short stature-skin anomalies syndrome Sparse hair-short stature-skin anomalies syndrome combines short stature, sparse hair, skin hyperpigmentation and urticaria-like reactions on the hands and arms. An upper central incisor, hypoplastic thumbs and/or palmoplantar hyperkeratosis may also be present. It is thought to be a rare form of ectodermal dysplasia and has been described at least once in a mother and her three sons. Transmission is autosomal dominant, or X-linked. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205797|Orphanet:79132 owl:Class HGNC:12519 biolink:NamedThing UCP3 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017852 biolink:NamedThing infantile spasms-broad thumbs syndrome A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. tmpaxzxjjyw_mondo_relaxed.owl Tsao-Ellingson syndrome|Tsao Ellingson syndrome|infantile spasms broad thumbs Orphanet:3173|ICD10:G40.4|GARD:0003002|UMLS:CN203849 https://rarediseases.info.nih.gov/diseases/3002/infantile-spasms-broad-thumbs owl:Class MONDO:0004140 biolink:NamedThing intermediate malignant teratoma An immature teratoma characterized by the presence of an intermediate amount of undifferentiated tissues. tmpaxzxjjyw_mondo_relaxed.owl malignant teratoma, intermediate|Intermediate immature teratoma|malignant teratoma, intermediate (morphologic abnormality) NCIT:C4288|ICDO:9083/3|DOID:7202|UMLS:C0334522 owl:Class MONDO:0007634 biolink:NamedThing intellectual disability, FRA12A type tmpaxzxjjyw_mondo_relaxed.owl mental retardation, FRA12A type|intellectual disability, FRA12A type OMIM:136630|MESH:C566980|UMLS:C1969893 owl:Class MONDO:0003265 biolink:NamedThing adjustment disorder A category of psychiatric disorders which are characterized by emotional or behavioral symptoms that develop within 3 months of a stressor and do not persist for more than an additional 6 months after the stressor is no longer present. tmpaxzxjjyw_mondo_relaxed.owl disorder, adjustment|adjustment disorder|adjustment disease|adjustment reaction|disorders, adjustment|disorder, reactive|disorders, reactive|adaptation reaction DOID:507|ICD9:309.89|SCTID:17226007|ICD9:309.9|MESH:D000275|NCIT:C92191|ICD9:309 owl:Class MONDO:0008973 biolink:NamedThing chondrodysplasia punctata, Toriello type Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported. tmpaxzxjjyw_mondo_relaxed.owl chondrodysplasia punctata syndrome|Toriello-Higgins-Miller syndrome Orphanet:79347|SCTID:715631005|MESH:C565853|ICD10:Q77.3|OMIM:215105 owl:Class MONDO:0011980 biolink:NamedThing autoimmune thyroid disease, susceptibility to, 1 tmpaxzxjjyw_mondo_relaxed.owl autoimmune thyroid disease, susceptibility to, 1|AITD1|autoimmune thyroid disease, susceptibility to, type 1 OMIM:608173|UMLS:C1842446 owl:Class MONDO:0019408 biolink:NamedThing Astley-Kendall dysplasia Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases. tmpaxzxjjyw_mondo_relaxed.owl short limbed dwarfism with extensive stippling|Astley-Kendall syndrome UMLS:C1300228|SCTID:389263004|MESH:C535392|Orphanet:85175|ICD10:Q77.3|GARD:0009220 owl:Class MONDO:0004487 biolink:NamedThing endometrial type cervical adenomyoma An adenomyoma that arises from the cervix and is characterized by the presence of endometrial type glands and endometrial stroma, surrounded by smooth muscle. There is no evidence of atypia. tmpaxzxjjyw_mondo_relaxed.owl cervical adenomyoma, endometrial type NCIT:C40233|UMLS:C1516406|DOID:8178 owl:Class MONDO:0021134 biolink:NamedThing acquired factor X deficiency An bleeding disorder with a decreased antigen and/or activity of factor X (FX) that is acquired. Acquired factor X deficiency is a rare disorder, commonly associated with a preceding viral illness and a circulating FX inhibitor. Although multiple treatment modalities have been described with variable success, in many cases, it is a self-limited condition. tmpaxzxjjyw_mondo_relaxed.owl acquired factor X deficiency NCIT:C131626|SCTID:33820001|UMLS:C0272328|ICD9:286.9 owl:Class CL:0002591 biolink:NamedThing smooth muscle cell of the pulmonary artery A smooth muscle of the pulmonary artery. tmpaxzxjjyw_mondo_relaxed.owl BTO:0003336 tmeehan 2011-03-06T05:01:28Z cell owl:Class HGNC:11592 biolink:NamedThing TBX1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class CHEBI:30985 biolink:NamedThing 4,4'-bipyridine A bipyridine in which the two pyridine moieties are linked by a bond between positions C-4 and C-4'. tmpaxzxjjyw_mondo_relaxed.owl 4,4'-bpy|4,4'-bipyridine|4,4-Bipyridin|4,4'-bipyridyl|gamma,gamma'-dipyridyl|4,4'-dipyridyl|4,4'-dipyridine|4-(4-pyridyl)pyridine|gamma,gamma'-bipyridyl owl:Class MONDO:0100413 biolink:NamedThing acute myeloid leukemia, biallelic CEBPA gene mutation Any acute myeloid leukemia that has the chromosomal anomaly biallelic CEBPA gene mutation. (The presence of mutations in both alleles of the CEBPA gene.) tmpaxzxjjyw_mondo_relaxed.owl AML, CEBP Biallelic Gene Mutation|AML, CEBPA Biallelic Mutation|AML, C/EBP-Alpha Biallelic Gene Mutation|AML, CEBPA Biallelic Gene Mutation|AML, biCEBPA|AML, CCAAT/Enhancer Binding Protein, Alpha Biallelic Gene Mutation|AML, C/EBPalpha Biallelic Gene Mutation|AML, CCAAT Enhancer Binding Protein Alpha Biallelic Gene Mutation|AML, biallelic CEBPA gene mutation|AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation NCIT:C157569 owl:Class MONDO:0022462 biolink:NamedThing anophthalmia esophageal atresia cryptorchidism A syndrome characterized by bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is an n-of-1 use case where only one patient or family has been described with this disorder. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000716 https://rarediseases.info.nih.gov/diseases/716/anophthalmia-esophageal-atresia-cryptorchidism owl:Class MONDO:0018976 biolink:NamedThing schisis association The combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia. These anomalies are associated at a higher frequency than would be expected with random combination rates. tmpaxzxjjyw_mondo_relaxed.owl Midline development field defects ICD10:Q87.8|MESH:C536633|GARD:0000246|UMLS:C2931271|Orphanet:63862|SCTID:718095000 https://rarediseases.info.nih.gov/diseases/246/schisis-association owl:Class MONDO:0023046 biolink:NamedThing ectodermal dysplasia blindness tmpaxzxjjyw_mondo_relaxed.owl GARD:0002045 https://rarediseases.info.nih.gov/diseases/2045/ectodermal-dysplasia-blindness owl:Class MONDO:0005849 biolink:NamedThing milk allergic reaction Allergic reaction to milk (usually cow's milk) or milk products. milk hypersensitivity should be differentiated from lactose intolerance, an intolerance to milk as a result of congenital deficiency of lactase. tmpaxzxjjyw_mondo_relaxed.owl milk allergic reaction|milk allergy EFO:0007369|DOID:4376|MESH:D016269|UMLS:C0079840 owl:Class MONDO:0007245 biolink:NamedThing cafe au lait spots, multiple A cutaneous disorder characterized by the presence of several cafe-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. tmpaxzxjjyw_mondo_relaxed.owl multiple cafe-au-lait syndrome|cafe-au-lait spots, multiple|multiple café-au-lait syndrome|neurofibromatosis type 6|familial cafe-au-lait spots|familial café-au-lait spots|multiple cafe-au-lait spots|autosomal dominant café au lait spots|NF6|multiple café-au-lait spots ICD10:L81.3|UMLS:C1861975|Orphanet:2678|GARD:0003967|GARD:0001050|OMIM:114030|UMLS:CN035858|MESH:C537421 https://rarediseases.info.nih.gov/diseases/3967/autosomal-dominant-cafe-au-lait-spots owl:Class MONDO:0010893 biolink:NamedThing malignant hyperthermia, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl malignant hyperpyrexia susceptibility type 4|malignant hyperthermia, susceptibility to, 4|Mhs4|malignant hyperthermia susceptibility type 4|MHS4|malignant hyperthermia, susceptibility to, type 4 Orphanet:423|MESH:C535697|OMIM:600467|GARD:0003366 https://rarediseases.info.nih.gov/diseases/3366/malignant-hyperthermia-susceptibility-type-4 owl:Class MONDO:0006803 biolink:NamedThing inferior myocardial infarction Myocardial infarction in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0340305|MedDRA:10057546|DOID:5850|MESH:D056989|EFO:1000983 owl:Class MONDO:0011785 biolink:NamedThing hereditary spastic paraplegia 19 Autosomal dominant spastic paraplegia type 19 is a pure form of hereditary spastic paraplegia characterized by a slowly progressive and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral neuropathy. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant spastic paraplegia 19|autosomal dominant spastic paraplegia type 19|spastic paraplegia 19|spastic paraplegia 19, autosomal dominant|SPG19|hereditary spastic paraplegia type 19 ICD10:G11.4|GARD:0009588|OMIM:607152|UMLS:C1846685|DOID:0110772|SCTID:763375003|Orphanet:100999|MESH:C536856 owl:Class MONDO:0006616 biolink:NamedThing toxicodendron dermatitis An allergic contact dermatitis caused by exposure to plants of the genus Toxicodendron (formerly Rhus). These include poison ivy, poison oak, and poison sumac, all plants that contain the substance urushiol, a potent skin sensitizing agent. (From Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl contact dermatitis due to genus Toxicodendron|Rhus dermatitis SCTID:410049000|EFO:1000773|MESH:D011040|DOID:3819|UMLS:C0032342|ICD9:692.6 owl:Class MONDO:0030298 biolink:NamedThing angioedema, hereditary, 8 tmpaxzxjjyw_mondo_relaxed.owl angioedema, hereditary, 8|HAE8 OMIM:619367 owl:Class HP:0002035 biolink:NamedThing Rectal prolapse Protrusion of the rectal mucous membrane through the anus. tmpaxzxjjyw_mondo_relaxed.owl Rectal prolapsed|Rectum protrudes through anus MEDDRA:10038077|MSH:D012005|UMLS:C0034888|SNOMEDCT_US:57773001 human_phenotype owl:Class MONDO:0017174 biolink:NamedThing Machado-Joseph disease type 1 Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD) characterized by the presence of marked pyramidal and extrapyramidal signs. tmpaxzxjjyw_mondo_relaxed.owl azorean disease, type i|SCA3, Joseph type|spinocerebellar ataxia type 3, Joseph type Orphanet:276238|ICD10:G11.8|SCTID:91953003 owl:Class MONDO:0056821 biolink:NamedThing bronchiolitis obliterans organizing pneumonia Bronchiolitis obliterans organizing pneumonia (BOOP) is a lung disease that causes inflammation in the small air tubes (bronchioles) and air sacs (alveoli). BOOP typically develops in individuals between 40-60 years old; however the disorder may affect individuals of any age. The signs and symptoms of BOOP vary but often include shortness of breath, a dry cough, and fever. BOOP can be caused by viral infections, various drugs, and other medical conditions. If the cause is known, the condition is called secondary BOOP. In many cases, the underlying cause of BOOP is unknown. These cases are called idiopathic BOOP or cryptogenic organizing pneumonia. Treatment often includes corticosteroid medications. tmpaxzxjjyw_mondo_relaxed.owl organized pneumonia|constrictive bronchiolitis|COP|cryptogenic organizing pneumonia|BOOP|organizing pneumonia SCTID:68409003|GARD:0005961 owl:Class MONDO:0016451 biolink:NamedThing idiopathic hypersomnia with long sleep time Idiopathic hypersomnia with long sleep time is a sleep disorder characterized by good quality night rest of 10 hours or more, excessive daytime drowsiness that is more or less continual with long episodes of non-restorative sleep, and difficult waking with sleep drunkenness or sleep inertia. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:228315|ICD9:327.11|ICD10:F51.1|UMLS:C2711059|SCTID:442416002|ICD10:G47.11 owl:Class HGNC:12591 biolink:NamedThing UROD tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0024281 biolink:NamedThing juvenile chronic polyarthritis A group of conditions used to describe polyarthritis occurring in children. tmpaxzxjjyw_mondo_relaxed.owl juvenile chronic polyarthritis NCIT:C26979 owl:Class MONDO:0013697 biolink:NamedThing intellectual disability, autosomal recessive 29 tmpaxzxjjyw_mondo_relaxed.owl mental retardation, autosomal recessive 29|MRT29|intellectual disability, autosomal recessive 29 OMIM:614333|UMLS:C3280525 owl:Class MONDO:0012668 biolink:NamedThing Tented eyebrows tmpaxzxjjyw_mondo_relaxed.owl Tented eyebrows OMIM:611426 owl:Class MONDO:0015788 biolink:NamedThing symptomatic form of hemophilia B in female carriers A form of hemophilia B (see this term) that manifests in some women with mutations in the F9 gene (Xq28), encoding coagulation factor IX. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200370|Orphanet:177929|ICD10:D67 owl:Class MONDO:0009280 biolink:NamedThing monosodium glutamate sensitivity tmpaxzxjjyw_mondo_relaxed.owl Chinese restaurant syndrome|monosodium glutamate sensitivity OMIM:231630|MESH:C562377|UMLS:C0008127|SCTID:56344009|ICD9:989.89 owl:Class MONDO:0030056 biolink:NamedThing Fanconi renotubular syndrome 5 tmpaxzxjjyw_mondo_relaxed.owl Fanconi renotubular syndrome 5|Fanconi Renotubular Syndrome, Acadian Variant|FANCONI RENOTUBULAR SYNDROME 5|FRTS5 OMIM:618913 owl:Class MONDO:0017583 biolink:NamedThing mirror polydactyly-vertebral segmentation-limbs defects syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome is characterised by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203387|Orphanet:3004|ICD10:Q87.2 owl:Class MONDO:0019736 biolink:NamedThing dense deposit disease Dense deposit disease, a histological subtype of MPGN is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen. tmpaxzxjjyw_mondo_relaxed.owl Mesangiocapillary glomerulonephritis type 2|MPGN 2|glomerulonephritis membranoproliferative type 2|membranoproliferative glomerulonephritis type 2|membranoproliferative glomerulonephritis type II Orphanet:93571|OMIM:609814|SCTID:722760002|GARD:0008555|NCIT:C123039|ICD10:N04.6|UMLS:C0268743 owl:Class MONDO:0011314 biolink:NamedThing Graves disease, susceptibility to, 2 tmpaxzxjjyw_mondo_relaxed.owl Graves disease, susceptibility to, 2|Grd2|Graves disease, susceptibility to, type 2 OMIM:603388 owl:Class HGNC:11195 biolink:NamedThing SOX2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010405 biolink:NamedThing prostate cancer, hereditary, X-linked 2 tmpaxzxjjyw_mondo_relaxed.owl prostate cancer, hereditary, X-linked 2|HPCX2 UMLS:C2678047|MESH:C567477|OMIM:300704 owl:Class MONDO:0010901 biolink:NamedThing HEC syndrome HEC syndrome is characterised by communicating hydrocephalus, endocardial fibroelastosis (EFE), and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The aetiology of the syndrome is unknown but a viral or genetic origin has been proposed. tmpaxzxjjyw_mondo_relaxed.owl hydrocephalus-endocardial fibroelastosis-cataract syndrome|hydrocephalus, endocardial fibroelastosis, and cataracts|HEC syndrome|communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts UMLS:C1833607|MESH:C535855|OMIM:600559|GARD:0002620|SCTID:721015008|ICD10:Q87.8|Orphanet:2119 Editor note: Orphanet classifies as both familial and non-familial, dilated and restrictive cardiomyopathy https://rarediseases.info.nih.gov/diseases/2620/hec-syndrome owl:Class MONDO:0011087 biolink:NamedThing inflammatory bowel disease 2 An inflammatory bowel disease that has material basis in variation in the chromosome region 12p13.2-q24.1. tmpaxzxjjyw_mondo_relaxed.owl IBD2|inflammatory bowel disease type 2|inflammatory bowel disease 2 MESH:C563310|OMIM:601458|UMLS:C1832321|DOID:0110900 owl:Class MONDO:0004419 biolink:NamedThing lymphoma-like variant infiltrating bladder urothelial carcinoma tmpaxzxjjyw_mondo_relaxed.owl infiltrating bladder urothelial carcinoma, lymphoma-like variant UMLS:C1512739|DOID:7972|NCIT:C39822 owl:Class HGNC:18568 biolink:NamedThing HSFY1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class ECTO:4000031 biolink:NamedThing exposure to increased water temperature A exposure event involving the interaction of an exposure receptor to increased amount of temperature of water. tmpaxzxjjyw_mondo_relaxed.owl exposure to increased amount in temperature of water owl:Class MONDO:0018267 biolink:NamedThing combined cervical dystonia tmpaxzxjjyw_mondo_relaxed.owl ICD10:G24.3|Orphanet:370114 owl:Class MONDO:0000458 biolink:NamedThing proneural glioblastoma A molecular subtype of glioblastoma that is associated with younger age at presentation and is characterized by p53 mutations and PDGFRa amplifications. tmpaxzxjjyw_mondo_relaxed.owl proneural glioblastoma|glioblastoma proneural subtype DOID:0050804|UMLS:C3828464|NCIT:C111692 owl:Class MONDO:0004240 biolink:NamedThing posterior urethra cancer A malignant neoplasm that affects the portion of the urethra that is close to the bladder. tmpaxzxjjyw_mondo_relaxed.owl posterior urethra malignant neoplasm|malignant neoplasm of the posterior urethra|posterior urethral cancer|malignant tumor of the posterior urethra|posterior urethra malignant tumor|posterior urethral malignant tumor|posterior urethral malignant neoplasm|malignant tumor of posterior urethra|malignant neoplasm of posterior urethra UMLS:C0279931|NCIT:C7640|DOID:7488 owl:Class HGNC:29160 biolink:NamedThing FASTKD2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0004879 biolink:NamedThing senile atrophy of choroid tmpaxzxjjyw_mondo_relaxed.owl ICD9:363.41|UMLS:C0154891|SCTID:38513001|DOID:9776 owl:Class MONDO:0016164 biolink:NamedThing herpetiform pemphigus Herpetiform pemphigus is a rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histologically, minimal or no apparent acantholysis is associated. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:208524|UMLS:CN226858|ICD10:L10.2 owl:Class MONDO:0022338 biolink:NamedThing ALK+ histiocytosis tmpaxzxjjyw_mondo_relaxed.owl anaplastic lymphoma kinase positive histiocytosis GARD:0010577 https://rarediseases.info.nih.gov/diseases/10577/alk-histiocytosis owl:Class MONDO:0012768 biolink:NamedThing prostate cancer, hereditary, 11 tmpaxzxjjyw_mondo_relaxed.owl HPC11|prostate cancer, hereditary, 11 UMLS:C2677773|MESH:C567449|OMIM:611955 owl:Class MONDO:0014079 biolink:NamedThing restless legs syndrome, susceptibility to, 8 tmpaxzxjjyw_mondo_relaxed.owl restless legs syndrome, susceptibility to, 8|RLS8 OMIM:615197 owl:Class MONDO:0020388 biolink:NamedThing double outlet right ventricle with non-committed subpulmonary ventricular septal defect tmpaxzxjjyw_mondo_relaxed.owl DORV with non-committed subpulmonary VSD Orphanet:99046|ICD10:Q20.1 owl:Class HP:0004368 biolink:NamedThing Increased circulating purine concentration Abnormally elevated concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. tmpaxzxjjyw_mondo_relaxed.owl Increased purine level|Increased purine levels UMLS:C4025332 peter 2008-03-18T06:31:00Z human_phenotype owl:Class NCBITaxon:35789 biolink:NamedThing Rickettsia helvetica tmpaxzxjjyw_mondo_relaxed.owl GC_ID:11|PMID:8102245 ncbi_taxonomy owl:Class MONDO:0020980 biolink:NamedThing hair nevus A usually benign congenital skin growth that is often pigmented and sometimes develop coarse surface hair. There is a lifetime risk of transformation to malignant melanoma which varies depending on the size of the lesion. tmpaxzxjjyw_mondo_relaxed.owl hair nevus|nevoid hypertrichosis|hairy nevus NCIT:C3074|SCTID:201161009|UMLS:C0018508 owl:Class MONDO:0006554 biolink:NamedThing granuloma annulare Granuloma annulare is a long-term (chronic) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. The most commonly affected areas are the forearms, hands and feet. The lesions associated with granuloma annulare usually resolve without treatment. Strong steroids (applied as a cream or injection) are sometimes used to clear the rash more quickly. Most symptoms will disappear within 2 years (even without treatment), but recurrence is common. The underlying cause of granuloma annulare is unknown. tmpaxzxjjyw_mondo_relaxed.owl Granulome annulare|granuloma annulare UMLS:C0085074|SCTID:65508009|ICD9:709.8|MESH:D016460|Wikipedia:Granuloma_annulare|DOID:3777|ICD10:L92.0|EFO:1000704|GARD:0006546|NCIT:C3470 https://rarediseases.info.nih.gov/diseases/6546/granuloma-annulare owl:Class MONDO:0032712 biolink:NamedThing combined oxidative phosphorylation deficiency 38 tmpaxzxjjyw_mondo_relaxed.owl COXPD38|COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 DOID:0111466|OMIM:618378 owl:Class MONDO:0022113 biolink:NamedThing central centrifugal cicatricial alopecia tmpaxzxjjyw_mondo_relaxed.owl CCCA|hot comb alopecia|central centrifugal cicatricial alopecia|central centrifugal alopecia|CENTRAL CENTRIFUGAL CICATRICIAL ALOPECIA OMIM:618352|ICD9:704.09|UMLS:C1274708|SCTID:109441000119102|GARD:0010826 https://rarediseases.info.nih.gov/diseases/10826/central-centrifugal-cicatricial-alopecia owl:Class MONDO:0008348 biolink:NamedThing pulmonary nodular lymphoid hyperplasia Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung. tmpaxzxjjyw_mondo_relaxed.owl pulmonary pseudolymphoma|pulmonary nodular lymphoid hyperplasia, familial UMLS:C1334969|UMLS:C1867419|Orphanet:60026|SCTID:718097008|OMIM:178610 owl:Class MONDO:0030896 biolink:NamedThing chromosome 13q33-q34 deletion syndrome tmpaxzxjjyw_mondo_relaxed.owl OMIM:619148 owl:Class UBERON:0006666 biolink:NamedThing great cerebral vein tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0007112 biolink:NamedThing interventricular septum aneurysm Interventricular septum aneurysm is a rare, non-syndromic, congenital heart malformation characterized by the presence of a congenital aneurysm of the membranous portion of the interventricular septum. Patients may be asymptomatic or may present with ventricular or supraventricular tachycardia, fatigue, exertional dyspnea, palpitations, and cardiac murmur. Ventricular septal defects and conduction defects, such as first-degree atrio-ventricular block or incomplete right bundle branch block, may also be also associated. tmpaxzxjjyw_mondo_relaxed.owl aneurysm of interventricular septum OMIM:105805|ICD10:Q21.0|Orphanet:99092|MESH:C563239|UMLS:C1387721 owl:Class MONDO:0002937 biolink:NamedThing nodular basal cell carcinoma A basal cell carcinoma of the skin that often appears as elevated nodules which may become ulcerated. tmpaxzxjjyw_mondo_relaxed.owl basal cell carcinoma, nodular|skin nodulo-ulcerative basal cell carcinoma|Rodent Ulcer|Nodulo-ulcerative basal cell carcinoma|circumscribed solid basal cell carcinoma|basal cell carcinoma, nodular (morphologic abnormality)|skin solid (nodular) basal cell carcinoma NCIT:C5568|DOID:4280|UMLS:C1304300|SCTID:403910009 owl:Class MONDO:0008002 biolink:NamedThing mirror movements 1 Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene. tmpaxzxjjyw_mondo_relaxed.owl MRMV1|mirror movements 1 and/Or agenesis of the corpus callosum|DCC familial congenital mirror movements|familial congenital mirror movements caused by mutation in DCC|bimanual synergia|mirror movements, congenital|mirror movements 1|mirror movements type 1 OMIM:157600|Orphanet:238722 owl:Class MONDO:0017931 biolink:NamedThing hereditary inclusion body myopathy type 4 Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy. tmpaxzxjjyw_mondo_relaxed.owl HIBM4 UMLS:CN227223|Orphanet:324381|ICD10:G71.8 owl:Class MONDO:0007444 biolink:NamedThing dermal Ridges, patternless tmpaxzxjjyw_mondo_relaxed.owl dermal Ridges, patternless MESH:C565109|UMLS:C1852160|OMIM:125540 owl:Class MONDO:0013814 biolink:NamedThing podoconiosis, susceptibility to tmpaxzxjjyw_mondo_relaxed.owl lymphostatic verrucosis, susceptibility to|PDCOS|podoconiosis, susceptibility to|Nonfilarial elephantiasis of Lower legs, susceptibility to|endemic Nonfilarial elephantiasis, susceptibility to OMIM:614590 owl:Class MONDO:0008217 biolink:NamedThing pelvis-shoulder dysplasia Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. tmpaxzxjjyw_mondo_relaxed.owl Scapuloiliac dysostosis|Kosenow syndrome|pelvis-shoulder dysplasia MESH:C566811|Orphanet:2839|UMLS:C1868508|ICD10:Q87.5|OMIM:169550|SCTID:719298001 owl:Class MONDO:0016617 biolink:NamedThing rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies tmpaxzxjjyw_mondo_relaxed.owl rheumatoid factor-negative JIA with anti-nuclear antibodies|polyarthritis without rheumatoid factor with anti-nuclear antibodies|juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies Orphanet:247854|ICD10:M08.3 owl:Class MONDO:0011389 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 16 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q24.3. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal dominant 16|autosomal dominant nonsyndromic deafness 16|autosomal dominant nonsyndromic deafness type 16|DFNA16|autosomal dominant deafness 16 ICD10:H90.3|MESH:C565832|UMLS:C1858916|OMIM:603964|DOID:0110547 owl:Class MONDO:0019357 biolink:NamedThing congenital narrowing of cervical spinal canal Congenital cervical spinal stenosis is a rare neurological disease characterized by a congenital narrowing of the bony anatomy of the cervical spinal canal (saggital diameter <14mm), predisposing the individual to symptomatic neural compression, such as cramps, paresthesias, pain, muscle hypertonia and weakness, myelopathy and sphincter disturbances. tmpaxzxjjyw_mondo_relaxed.owl congenital cervical spinal stenosis|congenital stenosis of the cervical spine ICD10:Q06.8|Orphanet:831 owl:Class MONDO:0011171 biolink:NamedThing odonto-tricho-ungual-digito-palmar syndrome Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait. tmpaxzxjjyw_mondo_relaxed.owl Otudp syndrome|OTUDP syndrome|ODONTOTRICHOUNGUAL-digital-palmar syndrome|odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type MESH:C566598|SCTID:722063009|UMLS:C1865998|Orphanet:69082|OMIM:601957 owl:Class MONDO:0009448 biolink:NamedThing iminoglycinuria Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait. tmpaxzxjjyw_mondo_relaxed.owl iminoglycinuria UMLS:C0268654|ICD9:270.8|OMIM:242600|ICD10:E72.0|SCTID:84121007|Orphanet:42062|MESH:C536285|GARD:0008424 https://rarediseases.info.nih.gov/diseases/8424/iminoglycinuria owl:Class MONDO:0002252 biolink:NamedThing granulomatous hepatitis Hepatitis that is characterized by the presence of granulomas. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27015|DOID:2239|UMLS:C0235369|SCTID:86514004 owl:Class MONDO:0041182 biolink:NamedThing polymorphic light eruption tmpaxzxjjyw_mondo_relaxed.owl polymorphic light eruption|polymorphous light eruption|polymorphic photodermatitis UMLS:C0031736|SCTID:238525001 owl:Class MONDO:0019607 biolink:NamedThing unspecified juvenile idiopathic arthritis Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes. tmpaxzxjjyw_mondo_relaxed.owl unspecified JIA Orphanet:91140|ICD10:M08.8 owl:Class MONDO:0010950 biolink:NamedThing type 1 diabetes mellitus 8 A type 1 diabetes mellituss that has material basis in mutation of the locus at chromosome 6q25-q27. tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 8|insulin-dependent diabetes mellitus 8|IDDM8 ICD10:E10|UMLS:C1833218|MESH:C563433|DOID:0110747|OMIM:600883 owl:Class MONDO:0010770 biolink:NamedThing ubiquitin-activating enzyme, Y-linked tmpaxzxjjyw_mondo_relaxed.owl Ube1Y|ubiquitin-activating enzyme, Y-linked OMIM:489000 owl:Class MONDO:0019770 biolink:NamedThing X-linked dominant intellectual disability-epilepsy syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93951|UMLS:CN227687 owl:Class HGNC:7462 biolink:NamedThing MT-ND6 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100375 biolink:NamedThing acute myeloid leukemia, t(15;17)(q24;q21) Any acute myeloid leukemia that has the chromosomal anomaly t(15;17)(q24;q21). (A chromosomal translocation associated with creation of a fusion between the PML and RARA genes. It is seen in variants of acute promyelocytic leukemia.) tmpaxzxjjyw_mondo_relaxed.owl AML, t(15;17)(q24;q21)|AML, t(15;17)(q22;q21)|AML, t(15;17)(q22;q12) NCIT:C27758|NCIT:C36055 owl:Class MONDO:0008239 biolink:NamedThing phosphoglucomutase 4 tmpaxzxjjyw_mondo_relaxed.owl phosphoglucomutase type 4|Pgm4|milk PGM|phosphoglucomutase 4 OMIM:172110 owl:Class MONDO:0020472 biolink:NamedThing Turner syndrome due to structural X chromosome anomalies tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207336|Orphanet:99413|ICD10:Q96.1|ICD10:Q96.2 owl:Class MONDO:0017171 biolink:NamedThing mucopolysaccharidosis type 6, rapidly progressing tmpaxzxjjyw_mondo_relaxed.owl mucopolysaccharidosis type VI, rapidly progressing|arylsulfatase B deficiency, rapidly progressing|MPSVI, rapidly progressing|MPS6, rapidly progressing UMLS:CN202600|Orphanet:276212|ICD10:E76.2 owl:Class MONDO:0041186 biolink:NamedThing Rowell syndrome A form of lupus erythematosus (discoid or systemic) with annular lesions of the skin like erythema multiforme associated with a characteristic pattern of immunological abnormalities. tmpaxzxjjyw_mondo_relaxed.owl lupus erythematosus and erythema multiforme-like syndrome|Rowell's syndrome UMLS:C0406637|SCTID:238926009 owl:Class HGNC:4192 biolink:NamedThing GCGR tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:4964 biolink:NamedThing HLA-G tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017399 biolink:NamedThing frontotemporal dementia, right temporal atrophy variant Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy. tmpaxzxjjyw_mondo_relaxed.owl RTLA|rvFTD UMLS:CN203142|SCTID:716667005|ICD10:G31.0|OMIM:600274|Orphanet:293848 owl:Class MONDO:0020431 biolink:NamedThing juxtaposition of the atrial appendages Juxtaposition of the atrial appendages is a rare atrial appendage anomaly when both appendages are located on the left or the right side of the great arteries. It is asymptomatic and is usually diagnosed incidentally, but is frequently associated with other congenital heart diseases. tmpaxzxjjyw_mondo_relaxed.owl juxtaposition of the atrial auricles Orphanet:99100|ICD10:Q20.8 owl:Class MONDO:0016682 biolink:NamedThing giant cell glioblastoma A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO) tmpaxzxjjyw_mondo_relaxed.owl Monstrocellular sarcoma|Monstrocellular sarcoma [obs] ICD10:C71.9|UMLS:C0334593|Orphanet:251579|UMLS:C0334588|NCIT:C4325|DOID:3074|ICDO:9441/3 owl:Class NCBITaxon:5125 biolink:NamedThing Hypocreales tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0100388 biolink:NamedThing acute myeloid leukemia, Monosomy 5 Any acute myeloid leukemia that has the chromosomal anomaly Monosomy 5. (A cytogenetic aneuploidy abnormality that refers to the presence of one chromosome 5 only. It is associated with the development of refractory anemia with excess blasts, refractory anemia with multilineage dysplasia, and refractory anemia with multilineage dysplasia and ringed sideroblasts.) tmpaxzxjjyw_mondo_relaxed.owl AML, Monosomy 5 NCIT:C36523 owl:Class MONDO:0022891 biolink:NamedThing craniosynostosis Maroteaux Fonfria type tmpaxzxjjyw_mondo_relaxed.owl GARD:0001598 https://rarediseases.info.nih.gov/diseases/1598/craniosynostosis-maroteaux-fonfria-type owl:Class MONDO:0008937 biolink:NamedThing cerebellar ataxia, benign, with thermoanalgesia tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia with loss of pain and temperature sensation|cerebellar ataxia, benign, with thermoanalgesia UMLS:C1859303|OMIM:212890|MESH:C565868 owl:Class MONDO:0009631 biolink:NamedThing isolated microphthalmia 1 A microphthalmia that has material basis in variation in the chromosomal region 14q32. tmpaxzxjjyw_mondo_relaxed.owl microphthalmia, isolated 1|isolated microphthalmia type 1|MCOP1|anophthalmia, clinical, isolated|Mcop|microphthalmos, autosomal recessive UMLS:C1855052|OMIM:251600|DOID:0060840|ICD10:Q11.0|MESH:C565377|Orphanet:2542 owl:Class MONDO:0016249 biolink:NamedThing hereditary site-specific ovarian cancer syndrome Hereditary site-specific ovarian cancer syndrome refers to ovarian cancer caused by germline mutations in various genes, usually associated with additional cancer risks. The most common are breast and ovarian cancer syndrome (HBOC) due to mutations in BRCA1 and BRCA2 genes and hereditary nonpolyposis colorectal cancer (HNPCC) due to mutations in DNA mismatch-repair genes. Mutations in STK11 gene, causing Peutz-Jeghers syndrome, are also associated with a risk of ovarian cancer (typically sex cord stromal tumors). Mutations in other genes, including RAD51C, RAD51D, PALB2, confer an elevated ovarian cancer risk in a minority of patients. tmpaxzxjjyw_mondo_relaxed.owl ICD10:C56|UMLS:CN201037|Orphanet:213524 owl:Class MONDO:0018678 biolink:NamedThing polyclonal hyperviscosity syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:450322|ICD10:D89.0|UMLS:CN237743 owl:Class MONDO:0007296 biolink:NamedThing spinocerebellar ataxia type 31 Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties. tmpaxzxjjyw_mondo_relaxed.owl SCA31|spinocerebellar ataxia type 31|spinocerebellar ataxia 31|spinocerebellar ataxia 16q22-linked|spinocerebellar ataxia, 16Q22-linked UMLS:C4274986|SCTID:715826005|GARD:0009975|MESH:C566146|UMLS:C1861736|DOID:0050980|OMIM:117210|ICD10:G11.8|Orphanet:217012 owl:Class MONDO:0032815 biolink:NamedThing mitochondrial DNA depletion syndrome 17 tmpaxzxjjyw_mondo_relaxed.owl MITOCHONDRIAL DNA DEPLETION SYNDROME 17|MTDPS17 OMIM:618567 owl:Class MONDO:0018663 biolink:NamedThing regressive spondylometaphyseal dysplasia tmpaxzxjjyw_mondo_relaxed.owl regressive spondylometaphyseal dysplasia OMIM:618019|ICD10:Q77.8|Orphanet:448267|UMLS:CN248525 owl:Class MONDO:0024245 biolink:NamedThing ductal eccrine adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl malignant hidradenoma|primary mucoepidermoid cutaneous carcinoma|eccrine ductal carcinoma|sweat gland carcinoma of the hand|eccrine ductal carcinoma (morphologic abnormality)|hidradenocarcinoma|malignant acrospiroma|anaplastic syringoma|ductal eccrine adenocarcinoma|ductal eccrine carcinoma|eccrine ductal carcinoma of skin DOID:5570|SCTID:403939009|NCIT:C43345 owl:Class MONDO:0017473 biolink:NamedThing patella aplasia/hypoplasia, bilateral tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q74.1|Orphanet:295041 owl:Class MONDO:0023121 biolink:NamedThing familial partial paralysis tmpaxzxjjyw_mondo_relaxed.owl partial paralysis, familial MEDGEN:447610|GTR:AN0100894|GARD:0008607|UMLS:CN035928 https://rarediseases.info.nih.gov/diseases/8607/familial-partial-paralysis owl:Class MONDO:0010744 biolink:NamedThing thrombocytopenia with elevated serum IgA and renal disease tmpaxzxjjyw_mondo_relaxed.owl thrombocytopenia with elevated serum IgA and renal disease OMIM:314000|GARD:0010576|MESH:C564051|UMLS:C1839162 owl:Class MONDO:0033557 biolink:NamedThing hemophagocytic lymphohistiocytosis, familial, 6 tmpaxzxjjyw_mondo_relaxed.owl FHL6|HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 6 OMIM:618998 owl:Class MONDO:0033310 biolink:NamedThing Joubert syndrome 31 tmpaxzxjjyw_mondo_relaxed.owl Joubert syndrome 31|JBTS31 DOID:0080277|OMIM:617761|Orphanet:475 owl:Class HGNC:7527 biolink:NamedThing MUTYH tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0010694 biolink:NamedThing nystagmus, myoclonic tmpaxzxjjyw_mondo_relaxed.owl nystagmus, myoclonic|myoclonic nystagmus OMIM:310800|GARD:0009605|UMLS:C1839579|MESH:C564088 https://rarediseases.info.nih.gov/diseases/9605/nystagmus-myoclonic owl:Class MONDO:0003318 biolink:NamedThing mixed cell type kidney Wilms' tumor Wilms tumor of the kidney characterized by the presence of blastema, epithelial, and mesenchymal components (triphasic pattern) or a combination of two of them (biphasic pattern). tmpaxzxjjyw_mondo_relaxed.owl mixed cell type renal Wilms tumor|mixed cell type nephroblastoma|mixed cell type renal adenosarcoma|mixed cell type kidney Wilms tumor|Mixed cell type Wilms tumor|mixed cell type kidney adenosarcoma|mixed cell type renal Wilms' tumor|mixed cell type renal Wilm's tumor DOID:5179|UMLS:C0279611|NCIT:C9149 owl:Class MONDO:0003968 biolink:NamedThing asynchronous multifocal osteogenic sarcoma A bone osteosarcoma affecting multiple skeletal sites, with multifocal lesions discovered between 6 and 24 months after the appearance of the initial tumor. Patients with asynchronous tumors have a better prognosis than those with synchronous osteosarcomas. tmpaxzxjjyw_mondo_relaxed.owl asynchronous multifocal osteosarcoma DOID:6697|UMLS:C1332342|NCIT:C6472 owl:Class NCBITaxon:56251 biolink:NamedThing Plagiorchioidea tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 ncbi_taxonomy owl:Class MONDO:0005659 biolink:NamedThing atrophic rhinitis A chronic inflammation in which the nasal mucosa gradually changes from a functional to a non-functional lining without mucociliary clearance. It is often accompanied by degradation of the bony turbinates, and the foul-smelling mucus which forms a greenish crust (ozena). tmpaxzxjjyw_mondo_relaxed.owl rhinitis, atrophic|rhinitis sicca|dry rhinitis|Ozaena|ozena UMLS:C0035459|MESH:D012222|EFO:0007159|SCTID:69646003|UMLS:C0030105|DOID:4731 owl:Class MONDO:0001985 biolink:NamedThing partial arterial retinal occlusion A partial occlusion of the retinal artery. tmpaxzxjjyw_mondo_relaxed.owl retinal partial arterial occlusion|partial retinal arterial occlusion ICD10:H34.21|UMLS:C0154839|ICD9:362.33|ICD10:H34.219|SCTID:776009|DOID:14522|NCIT:C35192 owl:Class MONDO:0019819 biolink:NamedThing double-orifice mitral valve tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q23.8|SCTID:253402005|Orphanet:95474|ICD9:746.89 owl:Class MONDO:0008936 biolink:NamedThing cerebellar ataxia and neurosensory deafness tmpaxzxjjyw_mondo_relaxed.owl cerebellar ataxia and neurosensory deafness UMLS:C1859304|MESH:C565869|OMIM:212850 owl:Class MONDO:0016552 biolink:NamedThing congenital primary megaureter, nonrefluxing and unobstructed form tmpaxzxjjyw_mondo_relaxed.owl Orphanet:238654|ICD10:Q62.2 owl:Class MONDO:0013654 biolink:NamedThing aneurysm, intracranial berry, 11 tmpaxzxjjyw_mondo_relaxed.owl ANIB11|aneurysm, intracranial BERRY, 11 UMLS:C3280275|Orphanet:231160|OMIM:614252 owl:Class MONDO:0007106 biolink:NamedThing anal sphincter dysplasia tmpaxzxjjyw_mondo_relaxed.owl ASDP|anal sphincter dysplasia OMIM:105563|MESH:C538254|GARD:0009822|UMLS:C1862936 https://rarediseases.info.nih.gov/diseases/9822/anal-sphincter-dysplasia owl:Class MONDO:0009447 biolink:NamedThing ichthyosis, split hairs, and amino aciduria tmpaxzxjjyw_mondo_relaxed.owl ichthyosis, split hairs, and amino aciduria UMLS:C1855786|MESH:C565471|OMIM:242550 owl:Class MONDO:0020382 biolink:NamedThing multifocal pattern dystrophy simulating fundus flavimaculatus Multifocal pattern dystrophy simulating fundus flavimaculatus is a patterned dystrophy of the retinal pigment epithelium characterized by multiple yellowish irregular flecks scattered or interconnected around the macula, simulating what is observed in Stargardt disease, and usually asymptomatic until adulthood when patients present with a slowly progressive loss of vision that often only becomes apparent in old age. tmpaxzxjjyw_mondo_relaxed.owl multifocal pattern dystrophy simulating Stargardt disease SCTID:723408004|Orphanet:99003|UMLS:CN207256|ICD10:H35.5 owl:Class MONDO:0012811 biolink:NamedThing aneurysm, intracranial berry, 8 tmpaxzxjjyw_mondo_relaxed.owl ANIB8|aneurysm, intracranial BERRY, 8 UMLS:C2677336|OMIM:612162|Orphanet:231160|MESH:C567405 owl:Class MONDO:0022876 biolink:NamedThing Cortes Lacassie syndrome tmpaxzxjjyw_mondo_relaxed.owl GARD:0001547 https://rarediseases.info.nih.gov/diseases/1547/cortes-lacassie-syndrome owl:Class HGNC:4428 biolink:NamedThing GOLGA5 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0100325 biolink:NamedThing odontochondrodysplasia 1 Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta. tmpaxzxjjyw_mondo_relaxed.owl Goldblatt chondrodysplasia|spondylometaphyseal dysplasia with dentinogenesis imperfecta|odontochondrodysplasia|ODCD|Goldblatt syndrome|chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome UMLS:CN200045|OMIM:184260|Orphanet:166272|GARD:0008717|ICD10:Q78.8|SCTID:717823001 http://orcid.org/0000-0001-5208-3432 owl:Class MONDO:0016630 biolink:NamedThing isolated delta-storage pool disease Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery. tmpaxzxjjyw_mondo_relaxed.owl isolated delta-SPD|isolated dense-SPD|isolated dense-storage pool disease Orphanet:248340|UMLS:CN201837|ICD10:D69.1 owl:Class MONDO:0005531 biolink:NamedThing morphine dependence Strong dependence, both physiological and emotional, upon morphine. tmpaxzxjjyw_mondo_relaxed.owl MESH:D009021|EFO:0005612|DOID:2560|SCTID:231479000 owl:Class MONDO:0019205 biolink:NamedThing trichodysplasia-amelogenesis imperfecta syndrome The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked. tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205796|Orphanet:79129 owl:Class MONDO:0004841 biolink:NamedThing kidney hypertrophy Global enlargement of the renal parenchyma in one or both kidneys. tmpaxzxjjyw_mondo_relaxed.owl hypertrophy of the kidney|renal Hypertrophy ICD10:N28.81|NCIT:C122991|ICD9:593.1|SCTID:88531004|UMLS:C0156259|DOID:9622 owl:Class MONDO:0008617 biolink:NamedThing inflammatory bowel disease 11 An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22. tmpaxzxjjyw_mondo_relaxed.owl IBD11|inflammatory bowel disease type 11|inflammatory bowel disease 11 UMLS:C2674051|OMIM:191390|DOID:0110894|MESH:C567154 owl:Class MONDO:0008766 biolink:NamedThing amaurosis-hypertrichosis syndrome Amaurosis hypertrichosis is characterised by severe retinal dystrophy marked by visual impairment and profound photophobia without night blindness. Eye examination suggested a cone-rod type of congenital amaurosis. Trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair were also reported. The syndrome has been described in two female cousins both born to consanguineous parents. tmpaxzxjjyw_mondo_relaxed.owl amaurosis congenita cone-rod type with congenital hypertrichosis|amaurosis congenita, cone-rod type, with congenital hypertrichosis MESH:C536604|OMIM:204110|GARD:0000637|Orphanet:1021|SCTID:720983002|ICD10:H35.5 https://rarediseases.info.nih.gov/diseases/637/amaurosis-congenita-cone-rod-type-with-congenital-hypertrichosis owl:Class MONDO:0007323 biolink:NamedThing Chondronectin tmpaxzxjjyw_mondo_relaxed.owl Chondronectin OMIM:118670 owl:Class PATO:0002103 biolink:NamedThing infiltrative A structural quality inhering in a bearer by virtue of the bearer's penetrating or permeating another substance or area. tmpaxzxjjyw_mondo_relaxed.owl infiltrating owl:Class MONDO:0003129 biolink:NamedThing epithelial predominant pulmonary blastoma A non-encapsulated, well defined pulmonary blastoma, composed of irregular tubular structures. It affects mostly middle-aged adults and it is rare in children. The prognosis is better compared to the biphasic pulmonary blastoma. tmpaxzxjjyw_mondo_relaxed.owl epithelial predominant pulmonary blastoma NCIT:C36053|DOID:4768|UMLS:C1333420 owl:Class MONDO:0017135 biolink:NamedThing olivopontocerebellar atrophy-deafness syndrome Olivopontocerebellar atrophy-deafness syndrome is characterised by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. tmpaxzxjjyw_mondo_relaxed.owl olivopontocerebellar atrophy deafness GARD:0004070|UMLS:CN202542|Orphanet:2732 owl:Class MONDO:0032864 biolink:NamedThing intellectual developmental disorder with speech delay, autism, and dysmorphic facies tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES|IDDSADF OMIM:618672 owl:Class MONDO:0008410 biolink:NamedThing Scheuermann disease A disorder characterized by osteochondrosis of the vertebral epiphyses in childhood. tmpaxzxjjyw_mondo_relaxed.owl juvenile kyphosis|spinal Osteochondrosis|juvenile osteochondrosis of spine|Scheuermann's kyphosis|juvenile osteochondrosis of Scheurermann|juvenile osteochondritis of the spine|Scheuermann disease|Scheuermann's disease|Scheuermann kyphosis|familial Scheuermann juvenile kyphosis|familial Scheuermann disease|Scheuermann juvenile kyphosis|Sherman's disease|Calve's disease|familial spinal osteochondrosis ICD10:M42.00|OMIM:181440|NCIT:C34999|GARD:0007610|ICD10:M42.0|DOID:13300|Orphanet:3135|UMLS:C0036310|EFO:0008576|ICD9:732.0|SCTID:53406005 owl:Class MONDO:0020785 biolink:NamedThing capillary malformation-arteriovenous malformation 2 tmpaxzxjjyw_mondo_relaxed.owl CMAVM2|CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2 OMIM:618196 owl:Class UBERON:0016402 biolink:NamedThing mesocolic lymph node tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0030010 biolink:NamedThing hypogonadotropic hypogonadism 25 with anosmia tmpaxzxjjyw_mondo_relaxed.owl hypogonadotropic hypogonadism 25 with anosmia|HH25|HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA OMIM:618841 owl:Class MONDO:0006778 biolink:NamedThing halo nevus A benign melanocytic nevus with a halo appearance. tmpaxzxjjyw_mondo_relaxed.owl halo nevi|leukoderma acquisitum Centrifugum of Sutton ICDO:8723/0|NCIT:C7602|EFO:1000958|ICD9:709.09|MESH:D055882|UMLS:C0474824|MedDRA:10062794|SCTID:398028009|GARD:0009421 https://rarediseases.info.nih.gov/diseases/9421/halo-nevi owl:Class MONDO:0018857 biolink:NamedThing creeping myiasis tmpaxzxjjyw_mondo_relaxed.owl migratory myiasis SCTID:417441005|GARD:0001609|MedDRA:10059547|Orphanet:504|UMLS:C1562462|ICD10:B87.0 https://rarediseases.info.nih.gov/diseases/1609/creeping-myiasis owl:Class MONDO:0015733 biolink:NamedThing low anorectal malformation Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis). Patients may present with failure to pass meconium, failure to thrive, and chronic constipation. tmpaxzxjjyw_mondo_relaxed.owl SCTID:253772005|ICD10:Q42.2|Orphanet:171215|ICD10:Q42.3|UMLS:C0345218|NCIT:C98975|ICD9:751.5 owl:Class HGNC:8754 biolink:NamedThing PCYT1A tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0017509 biolink:NamedThing adactyly of foot, unilateral tmpaxzxjjyw_mondo_relaxed.owl congenital absence of toes, unilateral ICD10:Q72.8|Orphanet:295116 owl:Class MONDO:0025483 biolink:NamedThing mammary neoplasms, animal Tumors or cancer of the mammary gland in animals (mammary glands, animal). tmpaxzxjjyw_mondo_relaxed.owl mammary carcinoma, animal|carcinomas, animal mammary|animal mammary carcinoma|mammary neoplasm, animal|neoplasm, mammary|carcinoma, animal mammary|neoplasms, mammary|mammary neoplasms|neoplasms, animal mammary|neoplasm, animal mammary|animal mammary neoplasms|mammary neoplasm|mammary carcinomas, animal|animal mammary carcinomas|animal mammary neoplasm MESH:D015674 owl:Class MONDO:0024549 biolink:NamedThing microphthalmia with coloboma 1 tmpaxzxjjyw_mondo_relaxed.owl microphthalmia, colobomatous, isolated 1|MCOPCB1|microphthalmia, isolated, with coloboma 1 OMIM:300345|Orphanet:98938 owl:Class MONDO:0001249 biolink:NamedThing trachoma A chronic infection of the conjunctiva and cornea caused by chlamydia trachomatis. tmpaxzxjjyw_mondo_relaxed.owl trachoma dubium|active stage trachoma GARD:0010374|ICD9:076|SCTID:2576002|ICD9:076.0|ICD10:A71.1|DOID:11265|ICD10:A71.0|MESH:D014141|ICD9:076.9|ICD10:A71|ICD9:076.1|ICD10:A71.9|UMLS:C0040592 https://rarediseases.info.nih.gov/diseases/10374/trachoma owl:Class MONDO:0017695 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form tmpaxzxjjyw_mondo_relaxed.owl glycogen storage disease type IV, progressive hepatic form|GSDIV, progressive hepatic form|GSD type 4, progressive hepatic form|glycogenosis type 4, progressive hepatic form|glycogen storage disease type 4, progressive hepatic form|GSD due to glycogen branching enzyme deficiency, progressive hepatic form|glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form|GBE deficiency, progressive hepatic form|glycogenosis type IV, progressive hepatic form OMIM:232500|UMLS:CN203594|ICD10:E74.0|Orphanet:308621 owl:Class MONDO:0017033 biolink:NamedThing primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder tmpaxzxjjyw_mondo_relaxed.owl primary ILD in childhood and adulthood due to alveolar vascular disorder 2022-03-01 UMLS:CN202345|Orphanet:264935 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: interstitial lung disease' MONDO_0015925 owl:Class ENVO:01000248 biolink:NamedThing dense settlement biome A dense settlement biome is an anthropogenic terrestrial biome which is primarily used for human habitation, recreation, and industry within built structures with little other land use. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005799 biolink:NamedThing hookworm infectious disease Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ancylostomiasis and necatoriasis are available. tmpaxzxjjyw_mondo_relaxed.owl infections, hookworm|infection, hookworm|hookworm infection|Bunostomiases|Bunostomiasis EFO:0007314 Editor note: TODO owl:Class MONDO:0011253 biolink:NamedThing craniomicromelic syndrome Craniomicromelic syndrome is a very rare disorder characterized by intrauterine growth retardation, underossification of the skull with large fontanels, short limbs with absent phalanges and finger and toe syndactyly. tmpaxzxjjyw_mondo_relaxed.owl craniomicromelic syndrome SCTID:725098001|GARD:0001583|ICD10:Q87.0|MESH:C566522|Orphanet:1524|UMLS:C1865184|OMIM:602558 https://rarediseases.info.nih.gov/diseases/1583/craniomicromelic-syndrome owl:Class MONDO:0003290 biolink:NamedThing simple partial epilepsy tmpaxzxjjyw_mondo_relaxed.owl DOID:5129|ICD9:345.51 owl:Class MONDO:0004845 biolink:NamedThing aphthous stomatitis A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval, lasting for 7-14 days and healing without scarring. tmpaxzxjjyw_mondo_relaxed.owl oral aphthae|canker sore|oral ulcer|aphthous ulceration|oral aphthous ulcer|aphtha GARD:0005834|MESH:D013281|ICD9:528.2|DOID:9663|NCIT:C62546|SCTID:427617000 https://rarediseases.info.nih.gov/diseases/5834/aphthous-stomatitis owl:Class MONDO:0001629 biolink:NamedThing Jaccoud syndrome tmpaxzxjjyw_mondo_relaxed.owl Jaccoud's syndrome|Jaccoud syndrome SCTID:84801008|ICD10:M12.00|ICD9:714.4|DOID:13080|ICD10:M12.0|UMLS:C0152084 owl:Class MONDO:0019851 biolink:NamedThing acquired primary ovarian failure An instance of primary ovarian failure that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired premature ovarian failure|acquired primary ovarian failure Orphanet:95709|SCTID:717954003|ICD10:E28.8|UMLS:C4303540 owl:Class MONDO:0012961 biolink:NamedThing type 1 diabetes mellitus 23 A type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 4q27. tmpaxzxjjyw_mondo_relaxed.owl diabetes mellitus, insulin-dependent, 23|IDDM23|insulin-dependent diabetes mellitus 23 OMIM:612622|MESH:C567233|ICD10:E10|UMLS:C2675472|DOID:0110760 owl:Class MONDO:0006146 biolink:NamedThing chondroid hamartoma A hamartoma that is characterized by the presence of chondroid elements. tmpaxzxjjyw_mondo_relaxed.owl EFO:1000175|UMLS:C1707390|NCIT:C42589 owl:Class CL:1000427 biolink:NamedThing adrenal cortex chromaffin cell A chromaffin cell that is part of the adrenal cortex. tmpaxzxjjyw_mondo_relaxed.owl chromaffin cell of adrenal cortex FMA:69795 Not clear this cell type exists. Can't call it a cortical adrenal cell because of different germ layer origin. cell owl:Class HGNC:17761 biolink:NamedThing TREM2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0005511 biolink:NamedThing janus kinase-3 deficiency Deficiency of janus kinase-3 causing the near absence of T lymphocytes and Natural killer cells; and normal or elevated B lymphocytes due to an autosomal recessive variant of severe combined immunodeficiency. tmpaxzxjjyw_mondo_relaxed.owl EFO:0005565|DOID:0060008|Wikipedia:Janus_kinase_3_deficiency owl:Class MONDO:0030058 biolink:NamedThing hearing loss, autosomal dominant 77 tmpaxzxjjyw_mondo_relaxed.owl DFNA77|deafness, autosomal dominant 77 OMIM:618915 owl:Class MONDO:0010084 biolink:NamedThing sucrosuria, hiatus hernia and intellectual disability tmpaxzxjjyw_mondo_relaxed.owl sucrosuria, hiatus hernia and intellectual disability|sucrosuria, hiatus hernia and mental retardation MESH:C564792|OMIM:272000|UMLS:C1848963 owl:Class MONDO:0003891 biolink:NamedThing bladder signet ring cell adenocarcinoma A signet ring cell carcinoma that involves the urinary bladder. tmpaxzxjjyw_mondo_relaxed.owl signet Ring cell adenocarcinoma of the urinary bladder|urinary bladder signet ring cell carcinoma|urinary bladder signet Ring adenocarcinoma|signet Ring cell adenocarcinoma of bladder|signet Ring cell adenocarcinoma of urinary bladder|bladder signet ring cell adenocarcinoma|signet Ring cell adenocarcinoma of the bladder|signet ring cell adenocarcinoma of bladder DOID:6481|UMLS:C1332563|NCIT:C6163 owl:Class MONDO:0019552 biolink:NamedThing centrifugal lipodystrophy Centrifugal lipodystrophy is a rare, acquired, localized lipodistrophy characterized by single or, occasionally, multiple, centrifugally progressive, asymptomatic to sometimes mildly tender, hypopigmented, lipoatrophic skin depressions with weakly erymatheous inflammatory borders, typically associated with regional ipsilateral lymph nodes swelling. Lesions typically occur on lower trunk (in particular groin and abdomen region), followed by upper trunk (axilla and neighboring regions) and, rarely, neck and head. It is usually not associated with systemic disease and is typically self-resolving. tmpaxzxjjyw_mondo_relaxed.owl lipodystrophia centrifugalis abdominalis infantilis ICD10:E88.1|Orphanet:90156 owl:Class MONDO:0017700 biolink:NamedThing glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form tmpaxzxjjyw_mondo_relaxed.owl glycogen storage disease type IV, childhood neuromuscular form|glycogenosis type IV, childhood neuromuscular form|glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form|glycogen storage disease type 4, childhood neuromuscular form|GSDIV, childhood neuromuscular form|GBE deficiency, childhood neuromuscular form|GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form|GSD type 4, childhood neuromuscular form|glycogenosis type 4, childhood neuromuscular form ICD10:E74.0|Orphanet:308698|UMLS:C1856305|OMIM:232500 owl:Class MONDO:0013632 biolink:NamedThing autosomal dominant nonsyndromic hearing loss 33 An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 13q34. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant deafness 33|deafness, autosomal dominant 33|DFNA33|autosomal dominant nonsyndromic deafness type 33|autosomal dominant nonsyndromic deafness 33 DOID:0110562|OMIM:614211|ICD10:H90.3|Orphanet:90635 owl:Class MONDO:0017503 biolink:NamedThing acheiria, bilateral tmpaxzxjjyw_mondo_relaxed.owl congenital absence of hand, bilateral Orphanet:295103|ICD10:Q71.3|SCTID:371189003 owl:Class MONDO:0044618 biolink:NamedThing CLCN4-related X-linked intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:485350 owl:Class HGNC:11164 biolink:NamedThing SNRPN tmpaxzxjjyw_mondo_relaxed.owl owl:Class GO:0060055 biolink:NamedThing angiogenesis involved in wound healing Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to a damaged tissue, following an injury. tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0016083 biolink:NamedThing FLOTCH syndrome FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leuchonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. tmpaxzxjjyw_mondo_relaxed.owl leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome|familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal heredity Orphanet:2045|ICD10:L60.8|GARD:0002346|MESH:C537065|UMLS:C2931411 https://rarediseases.info.nih.gov/diseases/2346/flotch-syndrome owl:Class MONDO:0018804 biolink:NamedThing MYO5B-related progressive familial intrahepatic cholestasis tmpaxzxjjyw_mondo_relaxed.owl MYO5B deficiency Orphanet:480491|UMLS:CN776887 owl:Class MONDO:0004317 biolink:NamedThing multiple spinal canal and spinal cord meningioma Multiple meningiomas that arises from the spinal meninges. tmpaxzxjjyw_mondo_relaxed.owl multiple meningiomas of the spinal canal and spinal cord|multiple spinal canal and spinal cord Meningiomas|multiple Meningiomas of spinal canal and spinal cord|multiple intraspinal Meningiomas UMLS:C1334825|NCIT:C5275|DOID:7646 owl:Class MONDO:0006891 biolink:NamedThing partial motor epilepsy A simple partial seizure consisting of clonus or spasm of a muscle or muscle group; it may be single or in a continuous and repetitive series or may spread to adjacent muscles. tmpaxzxjjyw_mondo_relaxed.owl focal motor seizure|epilepsy, focal motor NCIT:C50847|ICD9:780.39|EFO:1001089|MESH:D020938|DOID:3327|SCTID:128612007 owl:Class MONDO:0008949 biolink:NamedThing cerebral malformation, seizures, hypertrichosis, and overlapping fingers tmpaxzxjjyw_mondo_relaxed.owl Muller Barth Menger syndrome|cerebral malformation, seizures, hypertrichosis, and overlapping fingers UMLS:C1859259|MESH:C537370|GARD:0003812|OMIM:213820 owl:Class MONDO:0015034 biolink:NamedThing lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type A (LCHa) is a form of lissencephaly with cerebellar hypoplasia that encompasses classical lissencephaly with thickened cortical gray matter with either no discernable gradient, a gradient with posterior predominance, or a gradient with anterior predominance, and cerebellar vermis hypoplasia. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q04.3|UMLS:CN228900|Orphanet:100011 owl:Class MONDO:0009382 biolink:NamedThing hyperbilirubinemia, shunt, primary tmpaxzxjjyw_mondo_relaxed.owl PSHB|hyperbilirubinemia, shunt, primary OMIM:237800 owl:Class MONDO:0043170 biolink:NamedThing Pavone Fiumara Rizzo syndrome tmpaxzxjjyw_mondo_relaxed.owl syndactyly type 1 with cataracts and mental retardation|Pavone Fiumara Rizzo syndrome|syndactyly type 1 with cataracts and intellectual disability MESH:C536313|GARD:0004262|UMLS:C2931172 owl:Class MONDO:0016521 biolink:NamedThing muscular pseudohypertrophy-hypothyroidism syndrome Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism. tmpaxzxjjyw_mondo_relaxed.owl Hoffman syndrome|Kocher-Debré-Semelaigne syndrome|Kocher-DebrC)-Semelaigne syndrome ICD10:E03.1|SCTID:716338001|Orphanet:2349 owl:Class MONDO:0016989 biolink:NamedThing Fuchs heterochromic iridocyclitis Fuchs heterochromic iridocyclitis (FHI) is an ocular disease of unknown etiology occurring in a very small percentage (0.5-6.2%) of uvietis cases, characterized by diffuse iris heterochromia or atrophy, keratic precipitates in the absence of synechiae, and in some cases evolving to glaucoma and vitreous opacities. tmpaxzxjjyw_mondo_relaxed.owl Fuchs heterochromic cyclitis|FHI|Fuchs heterochromic uveitis GARD:0006791|MedDRA:10017406|ICD10:H20.8|Orphanet:263479 owl:Class MONDO:0003076 biolink:NamedThing unilateral retinoblastoma A retinoblastoma that only involves a single eye. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8714|DOID:4651|UMLS:C0854915 owl:Class MONDO:0032637 biolink:NamedThing ciliary dyskinesia, primary, 39 tmpaxzxjjyw_mondo_relaxed.owl CILIARY DYSKINESIA, PRIMARY, 39|CILD39|Ciliary Dyskinesia, Primary, 39, With or Without Situs Inversus OMIM:618254 owl:Class MONDO:0006711 biolink:NamedThing constrictive pericarditis A heart disorder in which the pericardial sac becomes thickened and fibrotic, tightening the myocardium and impeding the normal myocardial function. tmpaxzxjjyw_mondo_relaxed.owl constrictive pericarditis|constrictive pericarditis (disease) constrictive pericarditis (disease) NCIT:C78246|ICD9:423.2|UMLS:C0031048|MedDRA:10010783|DOID:11481|MESH:D010494|SCTID:85598007|EFO:1000878|HP:0002563 owl:Class MONDO:0012564 biolink:NamedThing Polyosteolysis-hyperostosis syndrome tmpaxzxjjyw_mondo_relaxed.owl Polyosteolysis/hyperostosis syndrome|Polyosteolysis-hyperostosis syndrome UMLS:C1835818|GARD:0010456|OMIM:610830|MESH:C563658 https://rarediseases.info.nih.gov/diseases/10456/polyosteolysishyperostosis-syndrome owl:Class MONDO:0008463 biolink:NamedThing split-hand and split-foot with hypodontia tmpaxzxjjyw_mondo_relaxed.owl split-hand and split-foot with hypodontia MESH:C566665|OMIM:183500|UMLS:C1866742 owl:Class MONDO:0003398 biolink:NamedThing anterograde amnesia Loss of the ability to form new memories beyond a certain point in time. This condition may be organic or psychogenic in origin. Organically induced anterograde amnesia may follow craniocerebral trauma; seizures; anoxia; and other conditions which adversely affect neural structures associated with memory formation (e.g., the hippocampus; fornix (brain); mammillary bodies; and anterior thalamic nuclei). (From Memory 1997 Jan-Mar;5(1-2):49-71) tmpaxzxjjyw_mondo_relaxed.owl MESH:D020324|ICD10:R41.1|DOID:5340 owl:Class MONDO:0032672 biolink:NamedThing intellectual developmental disorder with cardiac defects and dysmorphic facies tmpaxzxjjyw_mondo_relaxed.owl INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES|IDDCDF Orphanet:562569|OMIM:618316 owl:Class MONDO:0009684 biolink:NamedThing muscular hypertonia, lethal tmpaxzxjjyw_mondo_relaxed.owl muscular hypertonia, lethal MESH:C564982|OMIM:254120|UMLS:C1850827 owl:Class MONDO:0011205 biolink:NamedThing medium chain 3-ketoacyl-Coa thiolase deficiency tmpaxzxjjyw_mondo_relaxed.owl Mckat deficiency|medium-chain 3-ketoacyl-coa thiolase deficiency|medium chain 3-ketoacyl-Coa thiolase deficiency MESH:C566566|UMLS:C1865781|GARD:0010329|OMIM:602199 https://rarediseases.info.nih.gov/diseases/10329/medium-chain-3-ketoacyl-coa-thiolase-deficiency owl:Class MONDO:0001813 biolink:NamedThing squamous blepharitis tmpaxzxjjyw_mondo_relaxed.owl ICD10:H01.02|ICD9:373.02|MEDGEN:509829|SCTID:58912008|DOID:13825|ICD10:H01.021-H01.029|UMLS:C0155174 owl:Class MONDO:0032737 biolink:NamedThing spastic paraplegia 80, autosomal dominant tmpaxzxjjyw_mondo_relaxed.owl SPG80|SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT OMIM:618418 owl:Class MONDO:0015468 biolink:NamedThing craniosynostosis-cataract syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q75.0|UMLS:CN226684|Orphanet:1530 owl:Class MONDO:0012232 biolink:NamedThing stuttering, familial persistent, 2 tmpaxzxjjyw_mondo_relaxed.owl STUT2|stuttering, familial persistent, 2 OMIM:609261|UMLS:C1836484|MESH:C563756 owl:Class MONDO:0016822 biolink:NamedThing myalgia-eosinophilia syndrome associated with tryptophan A rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:2582|ICD10:M35.8|MedDRA:10014952 owl:Class UBERON:0012069 biolink:NamedThing epithelium-associated lymphoid tissue tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0015554 biolink:NamedThing typical urticaria pigmentosa tmpaxzxjjyw_mondo_relaxed.owl Orphanet:158766|ICD10:Q82.2 owl:Class MONDO:0007651 biolink:NamedThing gastrocutaneous syndrome tmpaxzxjjyw_mondo_relaxed.owl gastrocutaneous syndrome|peptic Ulcer/hiatal hernia, multiple lentigines/cafe-Au-lait Spots, hypertelorism, myopia Orphanet:2069|UMLS:C1850899|GARD:0002438|OMIM:137270|MESH:C535651 https://rarediseases.info.nih.gov/diseases/2438/gastrocutaneous-syndrome owl:Class MONDO:0030846 biolink:NamedThing spermatogenic failure 48 tmpaxzxjjyw_mondo_relaxed.owl spermatogenic failure 48|SPGF48 OMIM:619108 owl:Class MONDO:0015036 biolink:NamedThing lissencephaly with cerebellar hypoplasia type C Lissencephaly with cerebellar hypoplasia type C (LCHc) is a severe form of lissencephaly with cerebellar hypoplasia characterized by severe microcephaly, cleft palate, and severe cerebellar and brainstem hypoplasia leading to neonatal death. tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q04.3|UMLS:CN228902|Orphanet:100013|UMLS:C4274992|SCTID:715820004 owl:Class HGNC:6169 biolink:NamedThing ITIH4 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0043726 biolink:NamedThing multiple organ dysfunction syndrome The development of potentially reversible physiologic derangement involving two or more organ systems not involved in the disorder that resulted in intensive care unit (ICU) admission, and arising in the wake of a potentially life-threatening physiologic insult. tmpaxzxjjyw_mondo_relaxed.owl multiorgan failure|multiple organ system failure|multiple organ failures|multiple organ failure|multi-organ failure|organ failure, multiple|organ dysfunction syndrome, multiple|multiple organ systems failure|failure, multiple organ|multiple systems organ failure|multiple organ dysfunction syndrome|MODS|multisystem organ failure MESH:D009102|SCTID:57653000 owl:Class CL:0009036 biolink:NamedThing appendix macrophage A macrophage located in the vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl macrophage of appendix|macrophage of vermiform appendix|macrophage of appendix vermiformis owl:Class MONDO:0015789 biolink:NamedThing non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:178025|ICD10:E23.0 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: non-acquired combined pituitary hormone deficiency' MONDO_0018762 owl:Class MONDO:0004815 biolink:NamedThing osteosclerotic plasma cell myeloma A plasma cell neoplasm associated with osteosclerotic and fibrotic changes in the bone trabeculae. Often, the lymph nodes show changes resembling the plasma cell variant of Castleman disease. It is often part of POEMS syndrome which is characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. tmpaxzxjjyw_mondo_relaxed.owl osteosclerotic multiple myeloma|osteosclerotic myeloma|osteosclerotic plasma cell myeloma SCTID:425657001|DOID:9541|NCIT:C7765 owl:Class MONDO:0017725 biolink:NamedThing Tay-Sachs disease, b variant, juvenile form tmpaxzxjjyw_mondo_relaxed.owl GM2 gangliosidosis, B variant, juvenile form|hexosaminidase A deficiency, juvenile form ICD10:E75.0|UMLS:CN203621|Orphanet:309185 owl:Class MONDO:0004229 biolink:NamedThing acantholytic variant squamous cell breast carcinoma A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern. tmpaxzxjjyw_mondo_relaxed.owl squamous cell breast carcinoma, acantholytic variant DOID:7459|EFO:1001969|UMLS:C1519485|NCIT:C40359 owl:Class MONDO:0002787 biolink:NamedThing adamantinous craniopharyngioma A craniopharyngioma consisting of broad strands, cords and bridges of a multistratified squamous epithelium with peripheral palisading of nuclei. Diagnostic features include nodules of compact 'wet' keratin and dystrophic calcification. (Adapted from WHO) tmpaxzxjjyw_mondo_relaxed.owl craniopharyngioma, adamantinomatous|adamantinous Rathke's pouch neoplasm|adamantinous neoplasm of Rathke's pouch|adamantinous craniopharyngioma (morphologic abnormality)|adamantinous Rathke's pouch tumor|adamantinomatous craniopharyngioma|adamantinous tumor of Rathke's pouch MESH:D003397|ICDO:9351/1|DOID:3846|NCIT:C4726|EFO:1000069|UMLS:C0431129 owl:Class MONDO:0400004 biolink:NamedThing phrynoderma Phrynoderma is a form of follicular hyperkeratosis seen in young children and adolescents due to nutritional deficiencies. It is clinically characterized by discrete, follicular, skin-colored papules with keratotic plugs distributed over elbows, knees, extensor extremities, and buttocks. tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-7463-6306 owl:Class MONDO:0017493 biolink:NamedThing fibular hemimelia, bilateral tmpaxzxjjyw_mondo_relaxed.owl fibular longitudinal meromelia, bilateral Orphanet:295083|ICD10:Q72.6 owl:Class MONDO:0016594 biolink:NamedThing superficial siderosis Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria. tmpaxzxjjyw_mondo_relaxed.owl superficial hemosiderosis of the central nervous system|superficial siderosis of the central nervous system|superficial siderosis of the CNS|superficial hemosiderosis of the CNS|hemosiderosis of the central nervous system Orphanet:247245|ICD10:I69.0|GARD:0009484 owl:Class HGNC:10768 biolink:NamedThing SF3B1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0021548 biolink:NamedThing total early-onset cataract tmpaxzxjjyw_mondo_relaxed.owl cataract, total congenital|CCT|cataract, total congenital with posterior sutural opacities in heterozygotes Orphanet:91492|OMIM:601547|ICD10:Q12.0|OMIM:616509|GARD:0001159|Orphanet:98994 owl:Class MONDO:0033116 biolink:NamedThing spinocerebellar ataxia, autosomal recessive 26 tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive spinocerebellar ataxia 26|SCAR26|spinocerebellar ataxia, autosomal recessive 26 DOID:0080260|OMIM:617633|UMLS:CN417133 owl:Class MONDO:0009027 biolink:NamedThing cramps, familial adolescent tmpaxzxjjyw_mondo_relaxed.owl cramps, familial adolescent OMIM:218050 owl:Class MONDO:0012620 biolink:NamedThing prostate cancer, hereditary, 10 tmpaxzxjjyw_mondo_relaxed.owl prostate cancer, hereditary, 10|HPC10 OMIM:611100|UMLS:C1970192|MESH:C567011 owl:Class MONDO:0017134 biolink:NamedThing odonto-onycho dysplasia-alopecia syndrome Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. tmpaxzxjjyw_mondo_relaxed.owl odonto onycho dysplasia with alopecia GARD:0004051|UMLS:CN202534|Orphanet:2722 owl:Class MONDO:0009743 biolink:NamedThing neurologic disease, infantile multisystem, with osseous fragility tmpaxzxjjyw_mondo_relaxed.owl neurologic disease, infantile multisystem, with osseous fragility MESH:C564954|UMLS:C1850465|OMIM:256720 owl:Class HGNC:9343 biolink:NamedThing PRCC tmpaxzxjjyw_mondo_relaxed.owl owl:Class UBERON:0004100 biolink:NamedThing renal collecting system tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:3497 biolink:NamedThing EVC tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0000138 biolink:NamedThing metaphyseal chondrodysplasia tmpaxzxjjyw_mondo_relaxed.owl metaphyseal chondrodysplasia (disease)|metaphyseal chondrodysplasia metaphyseal chondrodysplasia (disease) HP:0005871|SCTID:28681006 owl:Class MONDO:0009961 biolink:NamedThing renal and mullerian duct hypoplasia tmpaxzxjjyw_mondo_relaxed.owl renal and mullerian duct hypoplasia MESH:C564853|UMLS:C1849439|OMIM:266810 owl:Class MONDO:0017565 biolink:NamedThing macrodactyly of fingers, bilateral tmpaxzxjjyw_mondo_relaxed.owl macrodactyly of hand, bilateral ICD10:Q74.0|Orphanet:295241 owl:Class NCBITaxon:110618 biolink:NamedThing Nectriaceae tmpaxzxjjyw_mondo_relaxed.owl GC_ID:1 NCBITaxon:307520 ncbi_taxonomy owl:Class MONDO:0012296 biolink:NamedThing lipomyelomeningocele Lipomyelomeningocele is a rare neural tube closure defect characterized by a subcutaneous lipoma that extends through a defect in the lumbodorsal fascia, vertebral neural arch, and dura. This painless lesion can occur anywhere along the spinal canal but usually is found in the sacral or lumbar region. If left untreated it can cause tethered cord syndrome. tmpaxzxjjyw_mondo_relaxed.owl lipomyelomeningocele|familial lipomyelomeningocele SCTID:104431000119107|Orphanet:268835|GARD:0010053|MESH:C537030|UMLS:C1836022|OMIM:609537|ICD10:Q05.9|ICD9:214.8 https://rarediseases.info.nih.gov/diseases/10053/lipomyelomeningocele owl:Class MONDO:0054846 biolink:NamedThing epilepsy, familial adult myoclonic, 6 tmpaxzxjjyw_mondo_relaxed.owl benign Adult Familial myoclonic epilepsy 6|FAME6|cortical myoclonic tremor with epilepsy, Familial, 6|epilepsy, FAMILIAL ADULT myoclonic, 6 OMIM:618074|DOID:0111696|UMLS:CN252655 owl:Class MONDO:0032758 biolink:NamedThing neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia tmpaxzxjjyw_mondo_relaxed.owl NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA|NDCAMA OMIM:618451 owl:Class MONDO:0006758 biolink:NamedThing female genital tuberculosis Mycobacterium infections of the female reproductive tract (genitalia, female). tmpaxzxjjyw_mondo_relaxed.owl SCTID:74181004|MedDRA:10061150|EFO:1000935|MESH:D014384 owl:Class MONDO:0017945 biolink:NamedThing ABetaL34V amyloidosis Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline. tmpaxzxjjyw_mondo_relaxed.owl hereditary cerebral hemorrhage with amyloidosis, Piedmont type|HCHWA, Piedmont type|ABetaL34V-related amyloidosis|ABeta amyloidosis, Piedmont type ICD10:E85.4+|OMIM:605714|ICD10:I68.0*|Orphanet:324703 owl:Class MONDO:0009616 biolink:NamedThing microcephalic primordial dwarfism, Toriello type Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive. tmpaxzxjjyw_mondo_relaxed.owl microcephalic primordial dwarfism and cataracts|microcephalic primordial dwarfism, Toriello type|microcephalic primordial dwarfism Toriello type GARD:0003602|Orphanet:2643|UMLS:C1855089|MESH:C537321|OMIM:251190|SCTID:715482004|ICD10:Q87.1 https://rarediseases.info.nih.gov/diseases/3602/microcephalic-primordial-dwarfism-toriello-type owl:Class MONDO:0020281 biolink:NamedThing metabolic disease with pigmentary retinitis tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 UMLS:CN207084|Orphanet:98713 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: metabolic disease MONDO:0005066 owl:Class MONDO:0032786 biolink:NamedThing Noonan syndrome 11 tmpaxzxjjyw_mondo_relaxed.owl NOONAN SYNDROME 11|NS11 OMIM:618499 owl:Class HGNC:16817 biolink:NamedThing ESS2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0001844 biolink:NamedThing uterine corpus myxoid leiomyoma A morphologic variant of uterine corpus leiomyoma characterized by extensive myxoid degeneration of the neoplasm connective tissue stroma. tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519860|DOID:13956|NCIT:C40166 owl:Class MONDO:0017553 biolink:NamedThing humero-ulnar synostosis, bilateral tmpaxzxjjyw_mondo_relaxed.owl humero-ulnar fusion, bilateral ICD10:Q74.0|Orphanet:295215 owl:Class MONDO:0011757 biolink:NamedThing brachydactyly type A1B tmpaxzxjjyw_mondo_relaxed.owl brachydactyly, type A1, B|BDA1B UMLS:C1846949|Orphanet:93388|MESH:C564635|DOID:0110974|OMIM:607004 owl:Class HGNC:7675 biolink:NamedThing NDN tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012243 biolink:NamedThing B-cell immunodeficiency, distal limb anomalies, and urogenital malformations tmpaxzxjjyw_mondo_relaxed.owl Hoffman syndrome|Bilu syndrome|B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MESH:C563745|UMLS:C1836437|OMIM:609296 owl:Class MONDO:0023155 biolink:NamedThing fibula aplasia complex brachydactyly tmpaxzxjjyw_mondo_relaxed.owl GARD:0002329 https://rarediseases.info.nih.gov/diseases/2329/fibula-aplasia-complex-brachydactyly owl:Class MONDO:0017917 biolink:NamedThing maternally-inherited spastic paraplegia A rare, genetic, complex hereditary spastic paraplegia disorder characterized by adulthood-onset of slowly progressive, bilateral, mainly lower limb spasticity and distal weakness associated with lower limb pain, hyperreflexia, and reduced vibration sense. Axonal neuropathy is frequently observed on electromyography and nerve conduction examination. tmpaxzxjjyw_mondo_relaxed.owl MT-ATP6-related mitochondrial spastic paraplegia|maternally-inherited SPG Orphanet:320360|ICD10:G11.4 owl:Class MONDO:0006721 biolink:NamedThing de Quervain disease Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to overuse injury or is associated with rheumatoid arthritis. tmpaxzxjjyw_mondo_relaxed.owl tenosynovitis, de Quervain's|radial styloid tenosynovitis DOID:14107|SCTID:21794005|ICD9:727.04|UMLS:C0149870|MESH:D053684|EFO:1000891|ICD10:M65.4 owl:Class MONDO:0001931 biolink:NamedThing pericholangitis Inflammation of the tissue surrounding the biliary ducts. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34916|UMLS:C0031052|SCTID:111373008|DOID:14272 owl:Class MONDO:0008164 biolink:NamedThing otosclerosis 1 tmpaxzxjjyw_mondo_relaxed.owl otosclerosis 1|OTSC1|OTS OMIM:166800|UMLS:CN032031|UMLS:C0029899 owl:Class MONDO:0009138 biolink:NamedThing dysosteosclerosis Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly. tmpaxzxjjyw_mondo_relaxed.owl dysosteosclerosis OMIM:224300|ICD10:Q78.8|SCTID:254123002|ICD9:756.9|GARD:0002012|UMLS:C0432262|MESH:C562973|Orphanet:1782 https://rarediseases.info.nih.gov/diseases/2012/dysosteosclerosis owl:Class MONDO:0001923 biolink:NamedThing vitreoretinal dystrophy tmpaxzxjjyw_mondo_relaxed.owl vitreoretinal dystrophies ICD10:H35.51|DOID:14251|SCTID:79556007|UMLS:C0154863|ICD9:362.73 owl:Class MONDO:0011574 biolink:NamedThing tetralogy of fallot syndrome, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl tetralogy of fallot syndrome, autosomal recessive UMLS:C1854119|MESH:C565314|OMIM:605618 owl:Class MONDO:0004755 biolink:NamedThing monieziasis Infection of ruminants with tapeworms of the genus Moniezia. tmpaxzxjjyw_mondo_relaxed.owl EFO:1001372|DOID:931|MESH:D008989|UMLS:C0026414 owl:Class MONDO:0010085 biolink:NamedThing Schilder disease Schilder's disease is a progressive demyelinating disorder of the central nervous system. tmpaxzxjjyw_mondo_relaxed.owl Schilder disease|Myelinoclastic diffuse sclerosis|SUDANOPHILIC cerebral sclerosis|Schilder's disease ICD9:341.1|Orphanet:59298|SCTID:49692006|OMIM:272100|ICD10:G37.0|UMLS:C0007795 owl:Class CL:0002617 biolink:NamedThing adipocyte of breast A fat cell that is part of the breast. tmpaxzxjjyw_mondo_relaxed.owl fat cell of breast|breast adipocyte CALOHA:TS-2377 Adipocytes found in the subcutaneous adipose tissue of breast. The breast consists of three main components, the skin, the subcutaneous adipose tissue and the functional glandular tissue that comprises both parenchyma and stroma.[CALOHA] tmeehan 2011-03-14T10:17:07Z cell owl:Class MONDO:0017472 biolink:NamedThing patella aplasia/hypoplasia, unilateral tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q74.1|Orphanet:295038 owl:Class MONDO:0033967 biolink:NamedThing immune dysregulation with inflammatory bowel disease tmpaxzxjjyw_mondo_relaxed.owl 2022-03-01 Orphanet:529974 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: primary immunodeficiency due to a defect in adaptive immunity' MONDO_0015823 owl:Class MONDO:0014914 biolink:NamedThing Dias-Logan syndrome Any BAFopathy in which the cause of the disease is a mutation in the BCL11A gene. tmpaxzxjjyw_mondo_relaxed.owl intellectual developmental disorder with persistence of fetal Hemoglobin|Dias-Logan syndrome|DILOS|Dias-Logan syndrome; DILOS|BCL11A-related intellectual developmental disorder with persistence of fetal hemoglobin|intellectual developmental disorder with persistence of fetal HEMOGLOBIN|intellectual developmental disorder with hereditary persistence of fetal Hemoglobin|BCL11A-related BAFopathy OMIM:617101|UMLS:C4310833 owl:Class MONDO:0011286 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 13 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 7q34-q36. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive deafness 13|autosomal recessive nonsyndromic deafness type 13|DFNB13|autosomal recessive nonsyndromic deafness 13|deafness, autosomal recessive 13 MESH:C566410|ICD10:H90.3|UMLS:C1864199|DOID:0110468|OMIM:603098 owl:Class MONDO:0011733 biolink:NamedThing parasomnia, sleep bruxism type tmpaxzxjjyw_mondo_relaxed.owl parasomnia, sleep bruxism type|PSMNSB|faciomandibular myoclonus, nocturnal|parasomnia, Sleeptalking type|nocturnal facio-mandibular myoclonus MESH:C536389|GARD:0010195|OMIM:606840 owl:Class MONDO:0009900 biolink:NamedThing polysyndactyly-cardiac malformation syndrome Polysyndactyly-cardiac malformation syndrome is characterized by polysyndactyly, hexadactyly (duplication of the first toe) and complex cardiac malformation (including atrial and ventricular septal defect, single ventricle, aortic dextroposition, or dilation of the right heart). It has been described in six patients from three unrelated families. Other manifestations were present in some patients (i.e. facial dysmorphism, hepatic cysts). tmpaxzxjjyw_mondo_relaxed.owl polysyndactyly cardiac malformation|Bonneau syndrome|polysyndactyly with CARDIAC malformation GARD:0004428|UMLS:C1849719|Orphanet:2934|MESH:C564875|OMIM:263630|ICD10:Q87.8|SCTID:724066002 owl:Class MONDO:0010776 biolink:NamedThing hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial tmpaxzxjjyw_mondo_relaxed.owl hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial OMIM:500005|MESH:C564024|UMLS:C1839021 owl:Class MONDO:0000339 biolink:NamedThing spinal polio A paralytic poliomyelitis in which the site of paralysis is the spinal cord. tmpaxzxjjyw_mondo_relaxed.owl DOID:0050513 owl:Class MONDO:0015302 biolink:NamedThing nodular cutaneous amyloidosis Primary localized cutaneous nodular amyloidosis (PLCNA) is the most rare form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis. PLCNA can be associated with connective tissue disorders such as SjC6grenBs syndrome and CREST syndrome. tmpaxzxjjyw_mondo_relaxed.owl primary localized cutaneous nodular amyloidosis|amyloidosis cutis nodularis atrophicans|PLCNA|NLCA|amyloidosis nodular localized cutaneous Orphanet:137810|SCTID:716704007|ICD10:E85.4+|GARD:0010562|ICD10:L99.0*|UMLS:C0546394|UMLS:C4274331|MedDRA:10056953 https://rarediseases.info.nih.gov/diseases/10562/amyloidosis-nodular-localized-cutaneous owl:Class MONDO:0009860 biolink:NamedThing phenformin 4-hydroxylation tmpaxzxjjyw_mondo_relaxed.owl phenformin 4-hydroxylation OMIM:261590 owl:Class MONDO:0008285 biolink:NamedThing polyps, multiple and recurrent inflammatory fibroid, gastrointestinal tmpaxzxjjyw_mondo_relaxed.owl polyps, multiple and recurrent inflammatory fibroid, gastrointestinal UMLS:C1868000|OMIM:175510|MESH:C566774 owl:Class MONDO:0016604 biolink:NamedThing dysraphism-cleft lip/palate-limb reduction defects syndrome tmpaxzxjjyw_mondo_relaxed.owl Medeira-Dennis-Donnai syndrome|dysraphism, cleft lip/palate, limb reduction defects ICD10:Q00.0|Orphanet:2476|GARD:0003438|UMLS:CN201798 owl:Class MONDO:0020447 biolink:NamedThing coronary sinus atresia tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q21.1|Orphanet:99118 owl:Class MONDO:0008732 biolink:NamedThing adrenal hypoplasia, cytomegalic type tmpaxzxjjyw_mondo_relaxed.owl adrenal hypoplasia, cytomegalic type UMLS:C1859977|Orphanet:95702|OMIM:202155 owl:Class MONDO:0007338 biolink:NamedThing cleft soft palate Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate. tmpaxzxjjyw_mondo_relaxed.owl soft cleft palate|cleft soft palate|cleft velum|cleft velum palatinum Orphanet:99772|ICD10:Q35.3|DOID:0110214|SCTID:253997002|OMIM:119570|MESH:C562950 owl:Class MONDO:0012865 biolink:NamedThing Pseudofolliculitis barbae tmpaxzxjjyw_mondo_relaxed.owl pili Incarnati|Pseudofolliculitis barbae|PFB|ingrown hairs MESH:C563016|ICD10:L73.1|OMIM:612318|UMLS:C0549150 owl:Class MONDO:0023263 biolink:NamedThing glyceraldehyde-3-phosphate dehydrogenase deficiency tmpaxzxjjyw_mondo_relaxed.owl GAPDH deficiency UMLS:C1291264|HGNC:4141|MESH:C536837|GARD:0002510 https://rarediseases.info.nih.gov/diseases/2510/glyceraldehyde-3-phosphate-dehydrogenase-deficiency owl:Class HGNC:7102 biolink:NamedThing MINPP1 tmpaxzxjjyw_mondo_relaxed.owl owl:Class HGNC:19358 biolink:NamedThing ALG12 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0012577 biolink:NamedThing asthma-related traits, susceptibility to, 4 tmpaxzxjjyw_mondo_relaxed.owl asthma-related traits, susceptibility to, type 4|asthma and allergic rhinitis, susceptibility to|asthma-related traits, susceptibility to, 4|ASRT4 OMIM:610906 owl:Class MONDO:0017044 biolink:NamedThing adult familial nephronophthisis-spastic quadriparesia syndrome This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:2666|UMLS:CN202376 owl:Class GO:1904803 biolink:NamedThing regulation of translation involved in cellular response to UV Any regulation of translation that is involved in cellular response to UV. tmpaxzxjjyw_mondo_relaxed.owl regulation of translation involved in cellular response to UV light stimulus|regulation of protein anabolism involved in cellular response to UV|regulation of translation involved in cellular response to UV radiation stimulus|regulation of protein synthesis involved in cellular response to UV|regulation of protein formation involved in cellular response to UV|regulation of protein biosynthesis involved in cellular response to UV|regulation of translation involved in cellular response to ultraviolet light stimulus|regulation of translation involved in cellular response to ultraviolet radiation stimulus owl:Class MONDO:0009932 biolink:NamedThing pulmonary bullae causing pneumothorax tmpaxzxjjyw_mondo_relaxed.owl pulmonary bullae causing pneumothorax OMIM:265200|MESH:C564863|UMLS:C1849566 owl:Class MONDO:0022407 biolink:NamedThing retinal ciliopathy due to mutation in bardet-biedl gene tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156183 owl:Class MONDO:0011513 biolink:NamedThing Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology tmpaxzxjjyw_mondo_relaxed.owl Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology UMLS:C1857933|OMIM:605055|MESH:C565728|Orphanet:1020 owl:Class HGNC:2845 biolink:NamedThing DGCR2 tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0044629 biolink:NamedThing congenital amyoplasia tmpaxzxjjyw_mondo_relaxed.owl amyoplasia congenita Orphanet:488586 owl:Class MONDO:0019032 biolink:NamedThing X-linked intellectual disability with isolated growth hormone deficiency tmpaxzxjjyw_mondo_relaxed.owl MRGH Orphanet:67045|ICD10:E23.0|OMIM:300123|UMLS:C1848068 owl:Class MONDO:0006945 biolink:NamedThing renal artery obstruction Narrowing or occlusion of the renal artery or arteries. It is due usually to atherosclerosis; fibromuscular dysplasia; thrombosis; embolism, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (hypertension, renovascular). tmpaxzxjjyw_mondo_relaxed.owl ICD10:N28.0|MESH:D012078|DOID:2972|UMLS:C0035066|EFO:1001150 owl:Class MONDO:0009682 biolink:NamedThing muscular dystrophy, congenital, with rapid progression tmpaxzxjjyw_mondo_relaxed.owl muscular dystrophy, congenital, with rapid progression MESH:C564983|OMIM:254100|UMLS:C1850840 owl:Class MONDO:0001101 biolink:NamedThing fat necrosis of breast Localized necrosis of the adipose tissue in the breast. Clinically, it may present as a mass. Causes include injury, surgical procedures, and radiation treatment. tmpaxzxjjyw_mondo_relaxed.owl breast fat necrosis|fat Necrosis of the breast UMLS:C0156321|ICD9:611.3|SCTID:21381006|DOID:10691|ICD10:N64.1|NCIT:C3661 owl:Class MONDO:0009312 biolink:NamedThing lipodystrophy due to peptidic growth factors deficiency Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk). tmpaxzxjjyw_mondo_relaxed.owl peptide growth factors deficiency|Werner-like syndrome due to combined Growth Factor deficiency|insulin, insulin-like Growth Factor I, and Epidermal Growth Factor deficiency|growth factors, combined defect OF|Werner-like syndrome due to combined growth factor deficiency|peptidic growth factors deficiency|Hoepffner-Dreyer-Reimers syndrome|Hoepffner Dreyer Reimers syndrome|combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency Orphanet:1979|GARD:0012604|SCTID:724176001|MESH:C565529|OMIM:233805|GARD:0004280|UMLS:C2931279|ICD10:E88.1 owl:Class MONDO:0011991 biolink:NamedThing autosomal recessive nonsyndromic hearing loss 38 An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 6q26-q27. tmpaxzxjjyw_mondo_relaxed.owl deafness, autosomal recessive 38|autosomal recessive deafness 38|autosomal recessive nonsyndromic deafness type 38|autosomal recessive nonsyndromic deafness 38|DFNB38 UMLS:C1842381|DOID:0110496|OMIM:608219|MESH:C564273|ICD10:H90.3 owl:Class MONDO:0030266 biolink:NamedThing immunodeficiency 80 with or without congenital cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl IMD80|immunodeficiency 80 with or without congenital cardiomyopathy|MCM10 deficiency OMIM:619313 owl:Class MONDO:0032828 biolink:NamedThing spastic tetraplegia and axial hypotonia, progressive tmpaxzxjjyw_mondo_relaxed.owl Sod1 Deficiency, Autosomal Recessive|SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE|STAHP OMIM:618598 owl:Class NCBITaxon:2560525 biolink:NamedThing Human orthorubulavirus 2 tmpaxzxjjyw_mondo_relaxed.owl human parainfluenza virus|Human parainfluenza virus 2|Parainfluenza virus type 2|Human parainfluenza virus type 2|Human parainfluenza 2 virus|HPIV-2|Human rubulavirus 2|PIV-2|HPIV2 GC_ID:1 NCBITaxon:1979160|NCBITaxon:11212|NCBITaxon:11199 ncbi_taxonomy owl:Class MONDO:0023083 biolink:NamedThing epimetaphyseal dysplasia cataract tmpaxzxjjyw_mondo_relaxed.owl GARD:0002175 https://rarediseases.info.nih.gov/diseases/2175/epimetaphyseal-dysplasia-cataract owl:Class MONDO:0018685 biolink:NamedThing incessant infant ventricular tachycardia Incessant infant ventricular tachycardia is a rare type of ventricular tachycardia (VT) characterized by the presence of tachycardia originating from the ventricles, observed for more than 10% of a 24 hour monitoring period. Patients are either asymptomatic or present congestive heart failure. tmpaxzxjjyw_mondo_relaxed.owl ICD10:I47.2|Orphanet:45453|SCTID:233908008|UMLS:C0340487 owl:Class MONDO:0019143 biolink:NamedThing angiostrongyliasis A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur. tmpaxzxjjyw_mondo_relaxed.owl GARD:0000683|ICD9:128.8|Orphanet:74|SCTID:61750000|NCIT:C128394|ICD10:B83.2|ICD10:B81.3|MESH:C536369|DOID:0050256|MedDRA:10069517|UMLS:C0392662 https://rarediseases.info.nih.gov/diseases/683/angiostrongyliasis owl:Class MONDO:0001508 biolink:NamedThing patulous eustachian tube A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. tmpaxzxjjyw_mondo_relaxed.owl SCTID:30280005|UMLS:C0155434|ICD10:H69.0|GARD:0010812|ICD9:381.7|DOID:12358|ICD10:H69.00 owl:Class MONDO:0012641 biolink:NamedThing restless legs syndrome, susceptibility to, 5 tmpaxzxjjyw_mondo_relaxed.owl restless legs syndrome, susceptibility to, 5|RLS5|RLS 5 OMIM:611242|GARD:0010272 owl:Class MONDO:0001916 biolink:NamedThing gastrointestinal tularemia A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. tmpaxzxjjyw_mondo_relaxed.owl enteric tularemia|intestinal tularaemia DOID:14239|ICD9:021.8|ICD10:A21.3|ICD9:021.1 owl:Class MONDO:0015300 biolink:NamedThing cataract - microcornea syndrome Cataract-microcornea syndrome is characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. tmpaxzxjjyw_mondo_relaxed.owl cataract microcornea syndrome|microcornea cataract syndrome OMIM:601547|ICD10:Q13.8|MESH:C538287|Orphanet:1377|OMIM:116200|GARD:0001155|OMIM:604219|OMIM:115700 https://rarediseases.info.nih.gov/diseases/1155/cataract-microcornea-syndrome owl:Class MONDO:0010960 biolink:NamedThing protocadherin 3 tmpaxzxjjyw_mondo_relaxed.owl protocadherin type 3|protocadherin 3|Pcdh3 OMIM:600931 owl:Class MONDO:0014264 biolink:NamedThing otosclerosis 10 tmpaxzxjjyw_mondo_relaxed.owl otosclerosis 10|OTSC10 OMIM:615589 owl:Class MONDO:0032880 biolink:NamedThing developmental and epileptic encephalopathy, 82 tmpaxzxjjyw_mondo_relaxed.owl EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82|Got2 Deficiency|EIEE82|DEE82|epileptic encephalopathy, early infantile, 82|Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of OMIM:618721 owl:Class MONDO:0017937 biolink:NamedThing autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain tmpaxzxjjyw_mondo_relaxed.owl Orphanet:324585|UMLS:CN204081|ICD10:G60.0 owl:Class MONDO:0004962 biolink:NamedThing stage II endometrioid carcinoma Endometrial carcinoma is a carcinoma that arises from the endometrium (the lining of the uterus or womb). It is the result of the abnormal growth of cells that have the ability to invade or spread to other parts of the body. The first sign is most often vaginal bleeding not associated with a menstrual period. Other symptoms include pain with urination or sexual intercourse, or pelvic pain. Endometrial cancer occurs most commonly after menopause. In stage II the cancer has spread from the body of the uterus and is growing into the supporting connective tissue of the cervix (called the cervical stroma). The cancer has spread into connective tissue of the cervix, but has not spread outside the uterus. tmpaxzxjjyw_mondo_relaxed.owl EFO:0000206 owl:Class NCBITaxon:11084 biolink:NamedThing Tick-borne encephalitis virus tmpaxzxjjyw_mondo_relaxed.owl TBEV|FSME virus|tick-borne encephalitis virus TBEV GC_ID:1 ncbi_taxonomy owl:Class MONDO:0007390 biolink:NamedThing coumarin resistance tmpaxzxjjyw_mondo_relaxed.owl warfarin resistance|coumarin resistance|warfarin sensitivity|coumarin, poor metabolism of|coumarin sensitivity SCTID:726543008|GARD:0012639|UMLS:CN078029|UMLS:C0750384|OMIM:122700|GARD:0012721 owl:Class MONDO:0016413 biolink:NamedThing congenital hypothyroidism due to maternal intake of antithyroid drugs tmpaxzxjjyw_mondo_relaxed.owl ICD10:P72.2|Orphanet:226313 owl:Class MONDO:0022888 biolink:NamedThing craniostenosis cataract tmpaxzxjjyw_mondo_relaxed.owl GARD:0001584 https://rarediseases.info.nih.gov/diseases/1584/craniostenosis-cataract owl:Class MONDO:0008782 biolink:NamedThing amyotrophic lateral sclerosis with polyglucosan bodies tmpaxzxjjyw_mondo_relaxed.owl amyotrophic lateral sclerosis with polyglucosan bodies OMIM:205250|Orphanet:803|MESH:C565955|UMLS:C1859805 Not in the OMIM series. owl:Class ECTO:7000008 biolink:NamedThing exposure to clay A exposure event involving the interaction of an exposure receptor to clay. tmpaxzxjjyw_mondo_relaxed.owl clay exposure owl:Class MONDO:0032584 biolink:NamedThing ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis tmpaxzxjjyw_mondo_relaxed.owl ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS|ECTD14 OMIM:618180|DOID:0111662 owl:Class MONDO:0043923 biolink:NamedThing lichen planus, oral A chronic, autoimmune inflammatory condition of the mucous membranes in the oral cavity that affects approximately two percent of the population and is most often seen in middle aged women. It is characterized by white, lacy patches; red, swollen tissue; papules and plaques; or open sores. The lesions are typically bilateral. tmpaxzxjjyw_mondo_relaxed.owl olp - oral lichen planus|oral lichen planus UMLS:C0206139|NCIT:C7406|MESH:D017676|EFO:1001415|SCTID:235049008 owl:Class MONDO:0100386 biolink:NamedThing acute myeloid leukemia, t(v;11q23.3) Any acute myeloid leukemia that has the chromosomal anomaly t(v;11q23.3). (A chromosomal abnormality consisting of the translocation of genetic material from any one of several chromosomes to the 11q23.3 region, resulting in an MLL gene rearrangement.) tmpaxzxjjyw_mondo_relaxed.owl AML, 11q23.3 Translocation|AML, t(11;v)(q23.3;v)|AML, t(V;11)(v;q23.3)|AML, t(V;11)(v;q23)|AML, t(11;v)(q23;v)|AML, t(v;11q23.3) NCIT:C36517 owl:Class MONDO:0020416 biolink:NamedThing Neuhauser anomaly Neuhauser anomaly is a rare cardiovascular morphological anomaly due to maldevelopment of embryonal aorta resulting in right aortic arch and left ligamentum arteriosum characterized by tracheoesophageal compression symptoms (stridor, dyspnea, dysphagia, apnoeic episodes, recurrent respiratory infections). tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q25.4|SCTID:766751007|Orphanet:99078 owl:Class MONDO:0032605 biolink:NamedThing intellectual disability, autosomal recessive 66 tmpaxzxjjyw_mondo_relaxed.owl MRT66|MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66 OMIM:618221 owl:Class MONDO:0007128 biolink:NamedThing annular erythema tmpaxzxjjyw_mondo_relaxed.owl annular erythema UMLS:C0234906|SCTID:200920000|OMIM:106500|MESH:C562461 owl:Class MONDO:0013029 biolink:NamedThing cerebellar ataxia type 9 tmpaxzxjjyw_mondo_relaxed.owl spinocerebellar ataxia type 9|SCA9|spinocerebellar ataxia 9|cerebellar ataxia type 9 GARD:0010481|OMIM:612876|DOID:0111747|UMLS:C3887996 owl:Class MONDO:0010025 biolink:NamedThing short stature-obesity syndrome tmpaxzxjjyw_mondo_relaxed.owl SSOS|short stature-obesity syndrome OMIM:269870|MESH:C564821|UMLS:C1849235 owl:Class MONDO:0008649 biolink:NamedThing venular insufficiency, systemic tmpaxzxjjyw_mondo_relaxed.owl venular insufficiency, systemic UMLS:C1860465|MESH:C566004|OMIM:192700 owl:Class MONDO:0004133 biolink:NamedThing pituitary gland mixed eosinophil-basophil adenoma An epithelial neoplasm of the anterior pituitary gland in which the neoplastic cells stain positive with acidic and basic dyes. tmpaxzxjjyw_mondo_relaxed.owl mixed acidophil-basophil adenoma|mixed eosinophil-basophil adenoma|pituitary gland mixed acidophil-basophil adenoma|mixed acidophil-basophil adenoma (morphologic abnormality) DOID:7179|ICDO:8281/0|UMLS:C0334312|NCIT:C4148 owl:Class MONDO:0040698 biolink:NamedThing subacute bursitis tmpaxzxjjyw_mondo_relaxed.owl subacute bursitis UMLS:C1290159|SCTID:109298000 owl:Class RO:0001015 biolink:NamedThing location of a relation between two independent continuants, the location and the target, in which the target is entirely within the location|a relation between two independent continuants, the location and the target, in which the target is entirely within the location tmpaxzxjjyw_mondo_relaxed.owl location_of|location_of Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/ is location of|is location of my head is the location of my brain|this cage is the location of this rat|this cage is the location of this rat|my head is the location of my brain owl:TransitiveProperty RO:0001901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl RO:0001025 biolink:NamedThing located in a relation between two independent continuants, the target and the location, in which the target is entirely within the location|a relation between two independent continuants, the target and the location, in which the target is entirely within the location tmpaxzxjjyw_mondo_relaxed.owl located_in|located_in Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Location as a relation between instances: The primitive instance-level relation c located_in r at t reflects the fact that each continuant is at any given time associated with exactly one spatial region, namely its exact location. Following we can use this relation to define a further instance-level location relation - not between a continuant and the region which it exactly occupies, but rather between one continuant and another. c is located in c1, in this sense, whenever the spatial region occupied by c is part_of the spatial region occupied by c1. Note that this relation comprehends both the relation of exact location between one continuant and another which obtains when r and r1 are identical (for example, when a portion of fluid exactly fills a cavity), as well as those sorts of inexact location relations which obtain, for example, between brain and head or between ovum and uterus|Most location relations will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Location as a relation between instances: The primitive instance-level relation c located_in r at t reflects the fact that each continuant is at any given time associated with exactly one spatial region, namely its exact location. Following we can use this relation to define a further instance-level location relation - not between a continuant and the region which it exactly occupies, but rather between one continuant and another. c is located in c1, in this sense, whenever the spatial region occupied by c is part_of the spatial region occupied by c1. Note that this relation comprehends both the relation of exact location between one continuant and another which obtains when r and r1 are identical (for example, when a portion of fluid exactly fills a cavity), as well as those sorts of inexact location relations which obtain, for example, between brain and head or between ovum and uterus located in|located in this rat is located in this cage|my brain is located in my head|this rat is located in this cage|my brain is located in my head http://www.obofoundry.org/ro/#OBO_REL:located_in|http://www.obofoundry.org/ro/#OBO_REL:located_in owl:ObjectProperty RO:0002263 biolink:NamedThing acts upstream of c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes.|c acts upstream of p if and only if c enables some f that is involved in p' and p' occurs chronologically before p, is not part of p, and affects the execution of p. c is a material entity and f, p, p' are processes. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002264 biolink:NamedThing acts upstream of or within c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process.|c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process. tmpaxzxjjyw_mondo_relaxed.owl affects owl:ObjectProperty RO:0002170 biolink:NamedThing connected to a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b|a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002323 biolink:NamedThing mereotopologically related to A mereological relationship or a topological relationship|A mereological relationship or a topological relationship tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002596 biolink:NamedThing capable of regulating Holds between c and p if and only if c is capable of some activity a, and a regulates p.|Holds between c and p if and only if c is capable of some activity a, and a regulates p. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002500 biolink:NamedThing causal agent in process A relationship between a material entity and a process where the material entity has some causal role that influences the process|A relationship between a material entity and a process where the material entity has some causal role that influences the process tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002572 biolink:NamedThing luminal space of s is luminal space of x iff s is lumen_of x and s is an immaterial entity|s is luminal space of x iff s is lumen_of x and s is an immaterial entity tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002571 biolink:NamedThing lumen of x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull.|x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002202 biolink:NamedThing develops from x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y|x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y tmpaxzxjjyw_mondo_relaxed.owl owl:TransitiveProperty RO:0002203 biolink:NamedThing develops into inverse of develops from|inverse of develops from tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002258 biolink:NamedThing developmentally preceded by Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p|Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002207 biolink:NamedThing directly develops from Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y.|Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participate in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of x comes from y, and the start of x is coincident with or after the end of y. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002210 biolink:NamedThing directly develops into inverse of directly develops from|inverse of directly develops from tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty NCIT:R163 biolink:NamedThing Procedure_Has_Target_Anatomy tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002018 biolink:NamedThing has component process w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type.|w 'has process component' p if p and w are processes, w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002180 biolink:NamedThing has_component w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type.|w 'has component' p if w 'has part' p and w is such that it can be directly disassembled into into n parts p, p2, p3, ..., pn, where these parts are of similar type. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002563 biolink:NamedThing interaction relation helper property tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002464 biolink:NamedThing helper property (not for use in curation) tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBI:0000312 biolink:NamedThing is_specified_output_of A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of.|A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0000056 biolink:NamedThing participates in a relation between a continuant and a process, in which the continuant is somehow involved in the process|a relation between a continuant and a process, in which the continuant is somehow involved in the process tmpaxzxjjyw_mondo_relaxed.owl participates_in|participates_in participates in|participates in this input material (or this output material) participates in this process|this investigator participates in this investigation|this blood clot participates in this blood coagulation|this blood clot participates in this blood coagulation|this input material (or this output material) participates in this process|this investigator participates in this investigation owl:ObjectProperty RO:0002150 biolink:NamedThing continuous with X continuous_with Y if and only if X and Y share a fiat boundary.|X continuous_with Y if and only if X and Y share a fiat boundary. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002449 biolink:NamedThing directly negatively regulates activity of The entity A, immediately upstream of the entity B, has an activity that negatively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B.|The entity A, immediately upstream of the entity B, has an activity that negatively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B. tmpaxzxjjyw_mondo_relaxed.owl molecularly decreases activity of owl:ObjectProperty RO:0002448 biolink:NamedThing directly regulates activity of The entity A, immediately upstream of the entity B, has an activity that regulates an activity performed by B. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B. A and B can be physically interacting but not necessarily. Immediately upstream means there are no intermediate entity between A and B.|The entity A, immediately upstream of the entity B, has an activity that regulates an activity performed by B. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B. A and B can be physically interacting but not necessarily. Immediately upstream means there are no intermediate entity between A and B. tmpaxzxjjyw_mondo_relaxed.owl molecularly controls owl:ObjectProperty RO:0002081 biolink:NamedThing before or simultaneous with tmpaxzxjjyw_mondo_relaxed.owl <=|<= Primitive instance level timing relation between events|Primitive instance level timing relation between events David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002222 biolink:NamedThing temporally related to tmpaxzxjjyw_mondo_relaxed.owl A relation that holds between two occurrents. This is a grouping relation that collects together all the Allen relations.|A relation that holds between two occurrents. This is a grouping relation that collects together all the Allen relations. owl:ObjectProperty RO:0002328 biolink:NamedThing functionally related to A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities.|A grouping relationship for any relationship directly involving a function, or that holds because of a function of one of the related entities. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:ro.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl disease_has_major_feature biolink:NamedThing disease has major feature tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004029 biolink:NamedThing disease has feature A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease.|A relationship between a disease and some feature of that disease, where the feature is either a phenotype or an isolated disease. tmpaxzxjjyw_mondo_relaxed.owl RO:0004029|RO:0004029 disease_has_feature|disease_has_feature owl:ObjectProperty RO:0002405 biolink:NamedThing immediately causally downstream of tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002404 biolink:NamedThing causally downstream of inverse of upstream of|inverse of upstream of tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002412 biolink:NamedThing immediately causally upstream of p is immediately causally upstream of q iff both (a) p immediately precedes q and (b) p is causally upstream of q. In addition, the output of p must be an input of q.|p is immediately causally upstream of q iff both (a) p immediately precedes q and (b) p is causally upstream of q. In addition, the output of p must be an input of q. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002087 biolink:NamedThing immediately_preceded_by X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y)|X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) tmpaxzxjjyw_mondo_relaxed.owl is immediately preceded by|directly preceded by|starts_at_end_of|is directly preceded by starts_at_end_of|starts_at_end_of X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y)|X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0010002 biolink:NamedThing is carrier of *b* is carrier of *c* at time *t* if and only if *c* *g-depends on* *b* at *t*|*b* is carrier of *c* at time *t* if and only if *c* *g-depends on* *b* at *t* tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0001000 biolink:NamedThing derives from a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity|a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity tmpaxzxjjyw_mondo_relaxed.owl derives_from|derives_from This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops from'.|This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops from'. this cell derives from this parent cell (cell division)|this nucleus derives from this parent nucleus (nuclear division)|this cell derives from this parent cell (cell division)|this nucleus derives from this parent nucleus (nuclear division) owl:ObjectProperty IAO:0000125 biolink:NamedThing pending final vetting All definitions, placement in the asserted IS_A hierarchy and required minimal metadata are complete. The class is awaiting a final review by someone other than the term editor. tmpaxzxjjyw_mondo_relaxed.owl pending final vetting IAO:0000078 RO:0001001 biolink:NamedThing derives into a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity|a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity tmpaxzxjjyw_mondo_relaxed.owl derives_into|derives_into This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops into'. To avoid making statements about a future that may not come to pass, it is often better to use the backward-looking 'derives from' rather than the forward-looking 'derives into'.|This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops into'. To avoid making statements about a future that may not come to pass, it is often better to use the backward-looking 'derives from' rather than the forward-looking 'derives into'. this parent cell derives into this cell (cell division)|this parent nucleus derives into this nucleus (nuclear division)|this parent cell derives into this cell (cell division)|this parent nucleus derives into this nucleus (nuclear division) owl:ObjectProperty owl:topObjectProperty biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002353 biolink:NamedThing output of inverse of has output|inverse of has output tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BFO:0000055 biolink:NamedThing realizes tmpaxzxjjyw_mondo_relaxed.owl BFO_0000055|BFO_0000055 BFO_0000055s|BFO_0000055s BFO_0000055ed|BFO_0000055ed owl:ObjectProperty RO:0000052 biolink:NamedThing inheres in a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence.|a relation between a specifically dependent continuant (the dependent) and an independent continuant (the bearer), in which the dependent specifically depends on the bearer for its existence|a relation between a specifically dependent continuant (the characteristic) and any other entity (the bearer), in which the characteristic depends on the bearer for its existence.|a relation between a specifically dependent continuant (the dependent) and an independent continuant (the bearer), in which the dependent specifically depends on the bearer for its existence tmpaxzxjjyw_mondo_relaxed.owl inheres_in|inheres_in Note that this relation was previously called "inheres in", but was changed to be called "characteristic of" because BFO2 uses "inheres in" in a more restricted fashion. This relation differs from BFO2:inheres_in in two respects: (1) it does not impose a range constraint, and thus it allows qualities of processes, as well as of information entities, whereas BFO2 restricts inheres_in to only apply to independent continuants (2) it is declared functional, i.e. something can only be a characteristic of one thing.|Note that this relation was previously called "inheres in", but was changed to be called "characteristic of" because BFO2 uses "inheres in" in a more restricted fashion. This relation differs from BFO2:inheres_in in two respects: (1) it does not impose a range constraint, and thus it allows qualities of processes, as well as of information entities, whereas BFO2 restricts inheres_in to only apply to independent continuants (2) it is declared functional, i.e. something can only be a characteristic of one thing. inheres in|inheres in this red color is a characteristic of this apple|this fragility is a characteristic of this vase|this red color is a characteristic of this apple|this fragility is a characteristic of this vase owl:ObjectProperty RO:0002314 biolink:NamedThing inheres in part of q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w.|q inheres in part of w if and only if there exists some p such that q inheres in p and p part of w.|q inheres in part of w if and only if there exists some p such that q inheres in p and p part of w.|q characteristic of part of w if and only if there exists some p such that q inheres in p and p part of w. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0000053 biolink:NamedThing bearer of a relation between an independent continuant (the bearer) and a specifically dependent continuant (the dependent), in which the dependent specifically depends on the bearer for its existence|Inverse of characteristic_of|Inverse of characteristic_of|a relation between an independent continuant (the bearer) and a specifically dependent continuant (the dependent), in which the dependent specifically depends on the bearer for its existence tmpaxzxjjyw_mondo_relaxed.owl bearer_of|is bearer of|bearer_of|is bearer of A bearer can have many dependents, and its dependents can exist for different periods of time, but none of its dependents can exist when the bearer does not exist.|A bearer can have many dependents, and its dependents can exist for different periods of time, but none of its dependents can exist when the bearer does not exist. bearer of|bearer of this vase is bearer of this fragility|this apple is bearer of this red color|this vase is bearer of this fragility|this apple is bearer of this red color owl:ObjectProperty RO:0002473 biolink:NamedThing composed primarily of x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y.|x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BFO:0000051 biolink:NamedThing has part a core relation that holds between a whole and its part|a core relation that holds between a whole and its part|Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2.|Q1 has_part Q2 if and only if: every instance of Q1 is a quality_of an entity that has_quality some Q2.|a core relation that holds between a whole and its part|a core relation that holds between a whole and its part tmpaxzxjjyw_mondo_relaxed.owl has_part|has_part Parthood requires the part and the whole to have compatible classes: only an occurrent have an occurrent as part; only a process can have a process as part; only a continuant can have a continuant as part; only an independent continuant can have an independent continuant as part; only a specifically dependent continuant can have a specifically dependent continuant as part; only a generically dependent continuant can have a generically dependent continuant as part. (This list is not exhaustive.) A continuant cannot have an occurrent as part: use 'participates in'. An occurrent cannot have a continuant as part: use 'has participant'. An immaterial entity cannot have a material entity as part: use 'location of'. An independent continuant cannot have a specifically dependent continuant as part: use 'bearer of'. A specifically dependent continuant cannot have an independent continuant as part: use 'inheres in'.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Everything has itself as a part. Any part of any part of a thing is itself part of that thing. Two distinct things cannot have each other as a part.|Parthood requires the part and the whole to have compatible classes: only an occurrent have an occurrent as part; only a process can have a process as part; only a continuant can have a continuant as part; only an independent continuant can have an independent continuant as part; only a specifically dependent continuant can have a specifically dependent continuant as part; only a generically dependent continuant can have a generically dependent continuant as part. (This list is not exhaustive.) A continuant cannot have an occurrent as part: use 'participates in'. An occurrent cannot have a continuant as part: use 'has participant'. An immaterial entity cannot have a material entity as part: use 'location of'. An independent continuant cannot have a specifically dependent continuant as part: use 'bearer of'. A specifically dependent continuant cannot have an independent continuant as part: use 'inheres in'.|Everything has itself as a part. Any part of any part of a thing is itself part of that thing. Two distinct things cannot have each other as a part.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/ has part|has part this year has part this day (occurrent parthood)|my body has part my brain (continuant parthood, two material entities)|my stomach has part my stomach cavity (continuant parthood, material entity has part immaterial entity)|my stomach has part my stomach cavity (continuant parthood, material entity has part immaterial entity)|this year has part this day (occurrent parthood)|my body has part my brain (continuant parthood, two material entities) owl:TransitiveProperty RO:0002225 biolink:NamedThing develops from part of x develops from part of y if and only if there exists some z such that x develops from z and z is part of y|x develops from part of y if and only if there exists some z such that x develops from z and z is part of y tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002434 biolink:NamedThing interacts with A relationship that holds between two entities in which the processes executed by the two entities are causally connected.|A relationship that holds between two entities in which the processes executed by the two entities are causally connected. tmpaxzxjjyw_mondo_relaxed.owl in pairwise interaction with owl:ObjectProperty RO:0002566 biolink:NamedThing causally influences The entity or characteristic A is causally upstream of the entity or characteristic B, A having an effect on B. An entity corresponds to any biological type of entity as long as a mass is measurable. A characteristic corresponds to a particular specificity of an entity (e.g., phenotype, shape, size).|The entity or characteristic A is causally upstream of the entity or characteristic B, A having an effect on B. An entity corresponds to any biological type of entity as long as a mass is measurable. A characteristic corresponds to a particular specificity of an entity (e.g., phenotype, shape, size). tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002506 biolink:NamedThing causal relation between entities tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004024 biolink:NamedThing disease causes disruption of A relationship between a disease and a process where the disease process disrupts the execution of the process.|A relationship between a disease and a process where the disease process disrupts the execution of the process. tmpaxzxjjyw_mondo_relaxed.owl RO:0004024|RO:0004024 disease_disrupts|disease_disrupts owl:ObjectProperty RO:0004023 biolink:NamedThing causal relationship with disease as subject tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002428 biolink:NamedThing involved in regulation of c involved in regulation of p if c is involved in some p' and p' regulates some p|c involved in regulation of p if c is involved in some p' and p' regulates some p tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002431 biolink:NamedThing involved in or involved in regulation of c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p|c involved in or regulates p if and only if either (i) c is involved in p or (ii) c is involved in regulation of p tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002320 biolink:NamedThing evolutionarily related to A relationship that holds via some environmental process|A relationship that holds via some environmental process tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0000092 biolink:NamedThing disposition of inverse of has disposition|inverse of has disposition tmpaxzxjjyw_mondo_relaxed.owl This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. owl:ObjectProperty RO:0002024 biolink:NamedThing directly positively regulated by Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1.|Process(P2) is directly postively regulated by process(P1) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P2 is directly postively regulated by P1. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002022 biolink:NamedThing directly regulated by tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002629 biolink:NamedThing directly positively regulates Process(P1) directly postively regulates process(P2) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P1 directly positively regulates P2.|Process(P1) directly postively regulates process(P2) iff: P1 positively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding positively regulates the kinase activity (P2) of protein B then P1 directly positively regulates P2. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty NCIT:R82 biolink:NamedThing Anatomic_Structure_Is_Physical_Part_Of tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0000059 biolink:NamedThing concretizes A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant.|A relationship between a specifically dependent continuant and a generically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. Multiple specifically dependent continuants can concretize the same generically dependent continuant. tmpaxzxjjyw_mondo_relaxed.owl An investigator reads a protocol and forms a plan to carry out an assay. The plan is a realizable entity (a specifically dependent continuant) that concretizes the protocol (a generically dependent continuant), and both depend on the investigator (an independent continuant). The plan is then realized by the assay (a process).|A journal article is an information artifact that inheres in some number of printed journals. For each copy of the printed journal there is some quality that carries the journal article, such as a pattern of ink. The quality (a specifically dependent continuant) concretizes the journal article (a generically dependent continuant), and both depend on that copy of the printed journal (an independent continuant).|An investigator reads a protocol and forms a plan to carry out an assay. The plan is a realizable entity (a specifically dependent continuant) that concretizes the protocol (a generically dependent continuant), and both depend on the investigator (an independent continuant). The plan is then realized by the assay (a process).|A journal article is an information artifact that inheres in some number of printed journals. For each copy of the printed journal there is some quality that carries the journal article, such as a pattern of ink. The quality (a specifically dependent continuant) concretizes the journal article (a generically dependent continuant), and both depend on that copy of the printed journal (an independent continuant). owl:ObjectProperty OBI:0000295 biolink:NamedThing is_specified_input_of A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of.|A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002372 biolink:NamedThing has muscle origin m has_muscle_origin s iff m is attached_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to.|m has_muscle_origin s iff m is attached_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002371 biolink:NamedThing attached to a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a|a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a tmpaxzxjjyw_mondo_relaxed.owl owl:SymmetricProperty RO:0002567 biolink:NamedThing biomechanically related to A relation that holds between elements of a musculoskeletal system or its analogs.|A relation that holds between elements of a musculoskeletal system or its analogs. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002134 biolink:NamedThing innervates Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R.|Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. T innervates some R Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002160 biolink:NamedThing only in taxon x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z.|x only in taxon y if and only if x is in taxon y, and there is no other organism z such that y!=z a and x is in taxon z. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002162 biolink:NamedThing in taxon x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed.|x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. tmpaxzxjjyw_mondo_relaxed.owl RO:0002162|RO:0002162 in_taxon|in_taxon owl:ObjectProperty RO:0002200 biolink:NamedThing has phenotype A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype).|A relationship that holds between a biological entity and a phenotype. Here a phenotype is construed broadly as any kind of quality of an organism part, a collection of these qualities, or a change in quality or qualities (e.g. abnormally increased temperature). The subject of this relationship can be an organism (where the organism has the phenotype, i.e. the qualities inhere in parts of this organism), a genomic entity such as a gene or genotype (if modifications of the gene or the genotype causes the phenotype), or a condition such as a disease (such that if the condition inheres in an organism, then the organism has the phenotype). tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002201 biolink:NamedThing phenotype of inverse of has phenotype|inverse of has phenotype tmpaxzxjjyw_mondo_relaxed.owl owl:FunctionalProperty MONDO:0100332 biolink:NamedThing disease has primary infectious agent tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432|http://orcid.org/0000-0001-5208-3432 owl:ObjectProperty RO:0014001 biolink:NamedThing disease has infectious agent A relationship between a disease and an infectious agent where the material basis of the disease is an infection with some infectious agent.|A relationship between a disease and an infectious agent where the material basis of the disease is an infection with some infectious agent. tmpaxzxjjyw_mondo_relaxed.owl RO:0014001|RO:0014001 disease_has_infectious_agent|disease_has_infectious_agent owl:ObjectProperty OBO:cl#has_low_plasma_membrane_amount biolink:NamedThing has_low_plasma_membrane_amount A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617).|A relation between a cell and molecule or complex such that every instance of the cell has a low number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002104 biolink:NamedThing has plasma membrane part Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part.|Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002578 biolink:NamedThing directly regulates Process(P1) directly regulates process(P2) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding regulates the kinase activity (P2) of protein B then P1 directly regulates P2.|Process(P1) directly regulates process(P2) iff: P1 regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding regulates the kinase activity (P2) of protein B then P1 directly regulates P2. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002211 biolink:NamedThing regulates process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2.|process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2. tmpaxzxjjyw_mondo_relaxed.owl owl:TransitiveProperty RO:0002427 biolink:NamedThing causally downstream of or within inverse of causally upstream of or within|inverse of causally upstream of or within tmpaxzxjjyw_mondo_relaxed.owl owl:TransitiveProperty RO:0002501 biolink:NamedThing causal relation between processes p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one of direct activation or direct inhibition. p may be upstream, downstream, part of or a container of q.|p is causally related to q if and only if p or any part of p and q or any part of q are linked by a chain of events where each event pair is one of direct activation or direct inhibition. p may be upstream, downstream, part of or a container of q. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002494 biolink:NamedThing transformation of x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships|x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty disease_has_basis_in_dysfunction_of biolink:NamedThing disease has basis in dysfunction of A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function.|A relation that holds between the disease and a material entity where the physical basis of the disease is a disorder of that material entity that affects its function. tmpaxzxjjyw_mondo_relaxed.owl RO:0004020|RO:0004020 disease_has_basis_in_dysfunction_of|disease_has_basis_in_dysfunction_of owl:ObjectProperty RO:0004019 biolink:NamedThing disease has basis in tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002384 biolink:NamedThing has developmental potential involving x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction).|x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002324 biolink:NamedThing developmentally related to A relationship that holds between entities participating in some developmental process (GO:0032502)|A relationship that holds between entities participating in some developmental process (GO:0032502) tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002380 biolink:NamedThing branching part of x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y|x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002375 biolink:NamedThing in branching relationship with A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network.|A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002569 biolink:NamedThing has branching part inverse of branching part of|inverse of branching part of tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BFO:0000050 biolink:NamedThing part_of a core relation that holds between a part and its whole|a core relation that holds between a part and its whole|For continuants: C part_of C' if and only if: given any c that instantiates C at a time t, there is some c' such that c' instantiates C' at time t, and c *part_of* c' at t. For processes: P part_of P' if and only if: given any p that instantiates P at a time t, there is some p' such that p' instantiates P' at time t, and p *part_of* p' at t. (Here *part_of* is the instance-level part-relation.)|a core relation that holds between a part and its whole|a core relation that holds between a part and its whole|For continuants: C part_of C' if and only if: given any c that instantiates C at a time t, there is some c' such that c' instantiates C' at time t, and c *part_of* c' at t. For processes: P part_of P' if and only if: given any p that instantiates P at a time t, there is some p' such that p' instantiates P' at time t, and p *part_of* p' at t. (Here *part_of* is the instance-level part-relation.) tmpaxzxjjyw_mondo_relaxed.owl part_of|part_of Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other.|Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.) A continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'.|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Occurrents are not subject to change and so parthood between occurrents holds for all the times that the part exists. Many continuants are subject to change, so parthood between continuants will only hold at certain times, but this is difficult to specify in OWL. See http://purl.obolibrary.org/obo/ro/docs/temporal-semantics/|Parthood requires the part and the whole to have compatible classes: only an occurrent can be part of an occurrent; only a process can be part of a process; only a continuant can be part of a continuant; only an independent continuant can be part of an independent continuant; only an immaterial entity can be part of an immaterial entity; only a specifically dependent continuant can be part of a specifically dependent continuant; only a generically dependent continuant can be part of a generically dependent continuant. (This list is not exhaustive.) A continuant cannot be part of an occurrent: use 'participates in'. An occurrent cannot be part of a continuant: use 'has participant'. A material entity cannot be part of an immaterial entity: use 'has location'. A specifically dependent continuant cannot be part of an independent continuant: use 'inheres in'. An independent continuant cannot be part of a specifically dependent continuant: use 'bearer of'.|Everything is part of itself. Any part of any part of a thing is itself part of that thing. Two distinct things cannot be part of each other. is part of|is part of my brain is part of my body (continuant parthood, two material entities)|my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity)|this day is part of this year (occurrent parthood)|my brain is part of my body (continuant parthood, two material entities)|this day is part of this year (occurrent parthood)|my stomach cavity is part of my stomach (continuant parthood, immaterial entity is part of material entity) http://www.obofoundry.org/ro/#OBO_REL:part_of|http://www.obofoundry.org/ro/#OBO_REL:part_of owl:TransitiveProperty RO:0002352 biolink:NamedThing input of inverse of has input|inverse of has input tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002488 biolink:NamedThing existence starts during x existence starts during y if and only if the time point at which x starts is after or equivalent to the time point at which y starts and before or equivalent to the time point at which y ends. Formally: x existence starts during y iff α(x) >= α(y) & α(x) <= ω(y).|x existence starts during y if and only if the time point at which x starts is after or equivalent to the time point at which y starts and before or equivalent to the time point at which y ends. Formally: x existence starts during y iff α(x) >= α(y) & α(x) <= ω(y). tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002496 biolink:NamedThing existence starts during or after x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y).|x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002490 biolink:NamedThing existence overlaps x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y))|x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002086 biolink:NamedThing ends after tmpaxzxjjyw_mondo_relaxed.owl X ends_after Y iff: end(Y) before_or_simultaneous_with end(X)|X ends_after Y iff: end(Y) before_or_simultaneous_with end(X) David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002508 biolink:NamedThing determines inverse of determined by|inverse of determined by tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002223 biolink:NamedThing starts inverse of starts with|Relation between occurrents, shares a start boundary with.|inverse of starts with|Relation between occurrents, shares a start boundary with. tmpaxzxjjyw_mondo_relaxed.owl Allen|Allen Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002224 biolink:NamedThing starts with x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpaxzxjjyw_mondo_relaxed.owl started by|started by Every insulin receptor signaling pathway starts with the binding of a ligand to the insulin receptor|Every insulin receptor signaling pathway starts with the binding of a ligand to the insulin receptor Chris Mungall|Chris Mungall owl:TransitiveProperty RO:0002000 biolink:NamedThing 2D boundary of a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity|a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity tmpaxzxjjyw_mondo_relaxed.owl 2D_boundary_of|is 2D boundary of|is boundary of|boundary of|is boundary of|2D_boundary_of|is 2D boundary of|boundary of A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape.|A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts. the surface of my skin is a 2D boundary of my body|the surface of my skin is a 2D boundary of my body owl:ObjectProperty RO:0002002 biolink:NamedThing has 2D boundary a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity|a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity tmpaxzxjjyw_mondo_relaxed.owl has_2D_boundary|has boundary|has boundary|has_2D_boundary A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape.|A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts.|Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape. my body has 2D boundary the surface of my skin|my body has 2D boundary the surface of my skin owl:ObjectProperty RO:0002286 biolink:NamedThing developmentally succeeded by Inverse of developmentally preceded by|Inverse of developmentally preceded by tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004010 biolink:NamedThing is genetic basis for condition tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004018 biolink:NamedThing is basis for realizable tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty FOODON:00001563 biolink:NamedThing has defining ingredient A defining ingredient defines what a food is principally categorized as, rather than an ingredient listed by percentage of weight or volume. A food may have more than one defining ingredient.|A defining ingredient defines what a food is principally categorized as, rather than an ingredient listed by percentage of weight or volume. A food may have more than one defining ingredient. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty FOODON:00002420 biolink:NamedThing has ingredient A relation attaching between a food material and another food material that has been added to it at some point in its history.|A relation attaching between a food material and another food material that has been added to it at some point in its history. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002013 biolink:NamedThing has regulatory component activity A 'has regulatory component activity' B if A and B are GO molecular functions (GO_0003674), A has_component B and A is regulated by B.|A 'has regulatory component activity' B if A and B are GO molecular functions (GO_0003674), A has_component B and A is regulated by B. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002017 biolink:NamedThing has component activity tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002334 biolink:NamedThing regulated by inverse of regulates|inverse of regulates tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002231 biolink:NamedThing has start location x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y|x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002479 biolink:NamedThing has part that occurs in p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c.|p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002576 biolink:NamedThing skeleton of inverse of has skeleton|inverse of has skeleton tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0003001 biolink:NamedThing produced by a produced_by b iff some process that occurs_in b has_output a.|a produced_by b iff some process that occurs_in b has_output a. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002410 biolink:NamedThing causally related to This relation groups causal relations between material entities and causal relations between processes|This relation groups causal relations between material entities and causal relations between processes tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002232 biolink:NamedThing has end location x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y|x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002502 biolink:NamedThing depends on tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002093 biolink:NamedThing ends during tmpaxzxjjyw_mondo_relaxed.owl overlaps|o|overlaps|o X ends_during Y iff: ((start(Y) before_or_simultaneous_with end(X)) AND end(X) before_or_simultaneous_with end(Y). |X ends_during Y iff: ((start(Y) before_or_simultaneous_with end(X)) AND end(X) before_or_simultaneous_with end(Y). David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002179 biolink:NamedThing drains Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure.|Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002350 biolink:NamedThing member of is member of is a mereological relation between a item and a collection.|is member of is a mereological relation between a item and a collection. tmpaxzxjjyw_mondo_relaxed.owl member part of|is member of|member part of|is member of SIO|SIO An organism that is a member of a population of organisms|An organism that is a member of a population of organisms owl:ObjectProperty RO:0002351 biolink:NamedThing has member has member is a mereological relation between a collection and an item.|has member is a mereological relation between a collection and an item. tmpaxzxjjyw_mondo_relaxed.owl SIO|SIO owl:IrreflexiveProperty RO:0002481 biolink:NamedThing is kinase activity tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002564 biolink:NamedThing molecular interaction relation helper property tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004032 biolink:NamedThing acts upstream of or within, positive effect tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBI:0000833 biolink:NamedThing objective_achieved_by This relation obtains between a a objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process.|This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process.|This relation obtains between an objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process.|This relation obtains between a a objective specification and a planned process when the criteria specified in the objective specification are met at the end of the planned process. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:cl#has_high_plasma_membrane_amount biolink:NamedThing has_high_plasma_membrane_amount A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617).|A relation between a cell and molecule or complex such that every instance of the cell has a high number of instances of that molecule expressed on the cell surface. For the formal definition, see Masci et al (PMID:19243617). tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:pato#different_in_magnitude_relative_to biolink:NamedThing different_in_magnitude_relative_to q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.|q1 different_in_magnitude_relative_to q2 if and only if magnitude(q1) NOT =~ magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002309 biolink:NamedThing has exposure stimulus A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event.|A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002244 biolink:NamedThing related via exposure to Any relationship between an exposure event or process and any other entity.|Any relationship between an exposure event or process and any other entity. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002285 biolink:NamedThing developmentally replaces x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else|x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002608 biolink:NamedThing process has causal agent Inverse of 'causal agent in process'|Inverse of 'causal agent in process' tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004031 biolink:NamedThing enables subfunction Holds between an entity and an process P where the entity enables some larger compound process, and that larger process has-part P.|Holds between an entity and an process P where the entity enables some larger compound process, and that larger process has-part P. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002287 biolink:NamedThing part of developmental precursor of tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002595 biolink:NamedThing causal relation between material entity and a process A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity.|A relationship that holds between a material entity and a process in which causality is involved, with either the material entity or some part of the material entity exerting some influence over the process, or the process influencing some aspect of the material entity. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002336 biolink:NamedThing positively regulated by inverse of positively regulates|inverse of positively regulates tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002491 biolink:NamedThing existence starts and ends during x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y)|x exists during y if and only if: 1) the time point at which x begins to exist is after or equal to the time point at which y begins and 2) the time point at which x ceases to exist is before or equal to the point at which y ends. Formally: x existence starts and ends during y iff α(x) >= α(y) & α(x) <= ω(y) & ω(x) <= ω(y) & ω(x) >= α(y) tmpaxzxjjyw_mondo_relaxed.owl exists during owl:ObjectProperty RO:0002492 biolink:NamedThing existence ends during x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y).|x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y). tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002015 biolink:NamedThing has positive regulatory component activity A relationship that holds between a GO molecular function and a component of that molecular function that positively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is positively regulated by B.|A relationship that holds between a GO molecular function and a component of that molecular function that positively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is positively regulated by B. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002305 biolink:NamedThing causally upstream of, negative effect tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002411 biolink:NamedThing causally upstream of p is causally upstream of q if and only if p precedes q and p and q are linked in a causal chain|p is causally upstream of q if and only if p precedes q and p and q are linked in a causal chain tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004046 biolink:NamedThing causally upstream of or within, negative effect tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0000079 biolink:NamedThing function of a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence|a relation between a function and an independent continuant (the bearer), in which the function specifically depends on the bearer for its existence tmpaxzxjjyw_mondo_relaxed.owl function_of|is function of|function_of|is function of This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. A function inheres in its bearer at all times for which the function exists, however the function need not be realized at all the times that the function exists.|A function inheres in its bearer at all times for which the function exists, however the function need not be realized at all the times that the function exists. this catalysis function is a function of this enzyme|this catalysis function is a function of this enzyme owl:ObjectProperty RO:0000085 biolink:NamedThing has function a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a function, in which the function specifically depends on the bearer for its existence tmpaxzxjjyw_mondo_relaxed.owl has_function|has_function A bearer can have many functions, and its functions can exist for different periods of time, but none of its functions can exist when the bearer does not exist. A function need not be realized at all the times that the function exists.|A bearer can have many functions, and its functions can exist for different periods of time, but none of its functions can exist when the bearer does not exist. A function need not be realized at all the times that the function exists. this enzyme has function this catalysis function (more colloquially: this enzyme has this catalysis function)|this enzyme has function this catalysis function (more colloquially: this enzyme has this catalysis function) owl:ObjectProperty IAO:0000136 biolink:NamedThing is about A (currently) primitive relation that relates an information artifact to an entity.|is_about is a (currently) primitive relation that relates an information artifact to an entity.|A (currently) primitive relation that relates an information artifact to an entity.|is_about is a (currently) primitive relation that relates an information artifact to an entity. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0003000 biolink:NamedThing produces a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix.|a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0040035 biolink:NamedThing disease relationship This relation groups relations between diseases and any other kind of entity.|This relation groups relations between diseases and any other kind of entity. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BFO:0000067 biolink:NamedThing contains process [copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t|[copied from inverse property 'occurs in'] b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t tmpaxzxjjyw_mondo_relaxed.owl Paraphrase of definition: a relation between an independent continuant and a process, in which the process takes place entirely within the independent continuant|Paraphrase of definition: a relation between an independent continuant and a process, in which the process takes place entirely within the independent continuant site of|site of owl:ObjectProperty OBO:bfo.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl RO:0000057 biolink:NamedThing has_participant a relation between a process and a continuant, in which the continuant is somehow involved in the process|a relation between a process and a continuant, in which the continuant is somehow involved in the process tmpaxzxjjyw_mondo_relaxed.owl has_participant|has_participant Has_participant is a primitive instance-level relation between a process, a continuant, and a time at which the continuant participates in some way in the process. The relation obtains, for example, when this particular process of oxygen exchange across this particular alveolar membrane has_participant this particular sample of hemoglobin at this particular time.|Has_participant is a primitive instance-level relation between a process, a continuant, and a time at which the continuant participates in some way in the process. The relation obtains, for example, when this particular process of oxygen exchange across this particular alveolar membrane has_participant this particular sample of hemoglobin at this particular time. has participant|has participant this investigation has participant this investigator|this process has participant this input material (or this output material)|this blood coagulation has participant this blood clot|this process has participant this input material (or this output material)|this blood coagulation has participant this blood clot|this investigation has participant this investigator http://www.obofoundry.org/ro/#OBO_REL:has_participant|http://www.obofoundry.org/ro/#OBO_REL:has_participant owl:ObjectProperty RO:0002433 biolink:NamedThing contributes to morphology of p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm.|p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002131 biolink:NamedThing overlaps A overlaps B if they share some part in common.|x overlaps y iff they have some part in common.|x overlaps y if and only if there exists some z such that x has part z and z part of y|A overlaps B if they share some part in common.|x overlaps y iff they have some part in common.|x overlaps y if and only if there exists some z such that x has part z and z part of y tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002257 biolink:NamedThing developmentally induces Inverse of developmentally induced by|Inverse of developmentally induced by tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002386 biolink:NamedThing has potential to developmentally induce x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y|x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002495 biolink:NamedThing immediate transformation of x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t|x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002303 biolink:NamedThing has habitat x 'has habitat' y if and only if: x is an organism, y is a habitat, and y can sustain and allow the growth of a population of xs.|x 'has habitat' y if and only if: x is an organism, y is a habitat, and y can sustain and allow the growth of a population of xs. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002321 biolink:NamedThing ecologically related to A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297)|A relationship that is mediated in some way by the environment or environmental feature (ENVO:00002297) tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002215 biolink:NamedThing capable_of A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. |A relation between a material entity (such as a cell) and a process, in which the material entity has the ability to carry out the process. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002216 biolink:NamedThing capable of part of c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p.|c stands in this relationship to p if and only if there exists some p' such that c is capable_of p', and p' is part_of p. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002354 biolink:NamedThing formed as result of tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002486 biolink:NamedThing sends output to tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002213 biolink:NamedThing positively regulates Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2.|Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002234 biolink:NamedThing has output p has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p.|p has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BFO:0000066 biolink:NamedThing occurs in b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t|b occurs_in c =def b is a process and c is a material entity or immaterial entity& there exists a spatiotemporal region r and b occupies_spatiotemporal_region r.& forall(t) if b exists_at t then c exists_at t & there exist spatial regions s and s’ where & b spatially_projects_onto s at t& c is occupies_spatial_region s’ at t& s is a proper_continuant_part_of s’ at t tmpaxzxjjyw_mondo_relaxed.owl occurs_in|unfolds in|unfolds_in|unfolds in|unfolds_in|occurs_in Paraphrase of definition: a relation between a process and an independent continuant, in which the process takes place entirely within the independent continuant|Paraphrase of definition: a relation between a process and an independent continuant, in which the process takes place entirely within the independent continuant occurs in|occurs in owl:ObjectProperty OBO:obi.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl RO:0002014 biolink:NamedThing has negative regulatory component activity A relationship that holds between a GO molecular function and a component of that molecular function that negatively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is negatively regulated by B.|A relationship that holds between a GO molecular function and a component of that molecular function that negatively regulates the activity of the whole. More formally, A 'has regulatory component activity' B iff :A and B are GO molecular functions (GO_0003674), A has_component B and A is negatively regulated by B. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002335 biolink:NamedThing negatively regulated by inverse of negatively regulates|inverse of negatively regulates tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002387 biolink:NamedThing has potential to develop into x has the potential to develop into y iff x develops into y or if x is capable of developing into y|x has the potential to develop into y iff x develops into y or if x is capable of developing into y tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002485 biolink:NamedThing receives input from tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002084 biolink:NamedThing during which ends tmpaxzxjjyw_mondo_relaxed.owl Previously had ID http://purl.obolibrary.org/obo/RO_0002122 in test files in sandpit - but this seems to have been dropped from ro-edit.owl at some point. No re-use under this ID AFAIK, but leaving note here in case we run in to clashes down the line. Official ID now chosen from DOS ID range.|Previously had ID http://purl.obolibrary.org/obo/RO_0002122 in test files in sandpit - but this seems to have been dropped from ro-edit.owl at some point. No re-use under this ID AFAIK, but leaving note here in case we run in to clashes down the line. Official ID now chosen from DOS ID range. David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0002219 biolink:NamedThing surrounded by x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x|x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002221 biolink:NamedThing surrounds inverse of surrounded by|inverse of surrounded by tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002220 biolink:NamedThing adjacent to x adjacent to y if and only if x and y share a boundary.|x adjacent to y if and only if x and y share a boundary. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002373 biolink:NamedThing has muscle insertion m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone.|m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0009001 biolink:NamedThing has substance added "has substance added" is a relation existing between a (physical) entity and a substance in which the entity has had the substance added to it at some point in time.|"has substance added" is a relation existing between a (physical) entity and a substance in which the entity has had the substance added to it at some point in time. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004001 biolink:NamedThing has material basis in gain of function germline mutation in tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004000 biolink:NamedThing condition has genetic basis in tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004011 biolink:NamedThing is causal gain of function germline mutation of in Relates a gene to condition, such that a mutation in this gene in a germ cell provides a new function of the corresponding product and that is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet].|Relates a gene to condition, such that a mutation in this gene in a germ cell provides a new function of the corresponding product and that is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet]. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty MONDO:0100333 biolink:NamedThing disease caused by reactivation of latent infectious agent tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432|http://orcid.org/0000-0001-5208-3432 owl:ObjectProperty RO:0004030 biolink:NamedThing disease arises from structure A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure.|A relationship between a disease and an anatomical structure where the material basis of the disease is some pathological change in the structure. tmpaxzxjjyw_mondo_relaxed.owl RO:0004030|RO:0004030 disease_arises_from_structure|disease_arises_from_structure owl:ObjectProperty OBO:chebi#is_conjugate_acid_of biolink:NamedThing is conjugate acid of tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#is_conjugate_base_of biolink:NamedThing is conjugate base of tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty https://en.wikipedia.org/wiki/Allen%27s_interval_algebra biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl RO:0002025 biolink:NamedThing has effector activity A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity.|A 'has effector activity' B if A and B are GO molecular functions (GO_0003674), A 'has component activity' B and B is the effector (output function) of B. Each compound function has only one effector activity. tmpaxzxjjyw_mondo_relaxed.owl owl:FunctionalProperty RO:0002304 biolink:NamedThing causally upstream of, positive effect tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0009501 biolink:NamedThing realized in response to r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r.|r 'realized in response to' s iff, r is a realizable (e.g. a plant trait such as responsivity to drought), s is an environmental stimulus (a process), and s directly causes the realization of r. tmpaxzxjjyw_mondo_relaxed.owl triggered by process RO:0009501|RO:0009501 realized_in_response_to|realized_in_response_to owl:ObjectProperty RO:0002226 biolink:NamedThing develops in x develops_in y if x is located in y whilst x is developing|x develops_in y if x is located in y whilst x is developing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002451 biolink:NamedThing transmitted by A relationship that holds between a disease and organism|A relationship that holds between a disease and organism tmpaxzxjjyw_mondo_relaxed.owl RO:0002451|RO:0002451 transmitted_by|transmitted_by owl:ObjectProperty RO:0002497 biolink:NamedThing existence ends during or before x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends.|x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002487 biolink:NamedThing relation between physical entity and a process or stage tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002329 biolink:NamedThing part of structure that is capable of this relation holds between c and p when c is part of some c', and c' is capable of p.|this relation holds between c and p when c is part of some c', and c' is capable of p. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:pato#decreased_in_magnitude_relative_to biolink:NamedThing decreased_in_magnitude_relative_to q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.|q1 decreased_in_magnitude_relative_to q2 if and only if magnitude(q1) < magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002156 biolink:NamedThing derived by descent from d derived_by_descent_from a if d is specified by some genetic program that is sequence-inherited-from a genetic program that specifies a.|d derived_by_descent_from a if d is specified by some genetic program that is sequence-inherited-from a genetic program that specifies a. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002157 biolink:NamedThing has derived by descendant inverse of derived by descent from|inverse of derived by descent from tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002436 biolink:NamedThing molecularly interacts with An interaction relationship in which the two partners are molecular entities that directly physically interact with each other for example via a stable binding interaction or a brief interaction during which one modifies the other.|An interaction relationship in which the two partners are molecular entities that directly physically interact with each other for example via a stable binding interaction or a brief interaction during which one modifies the other. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002158 biolink:NamedThing shares ancestor with two individual entities d1 and d2 stand in a shares_ancestor_with relation if and only if there exists some a such that d1 derived_by_descent_from a and d2 derived_by_descent_from a.|two individual entities d1 and d2 stand in a shares_ancestor_with relation if and only if there exists some a such that d1 derived_by_descent_from a and d2 derived_by_descent_from a. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002103 biolink:NamedThing synapsed by Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. |Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002120 biolink:NamedThing synapsed to Relation between a neuron and an anatomical structure (including cells) that it chemically synapses to. | Relation between a neuron and an anatomical structure (including cells) that it chemically synapses to. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002388 biolink:NamedThing has potential to directly develop into x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y|x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002418 biolink:NamedThing causally upstream of or within p 'causally upstream or within' q iff (1) the end of p is before the end of q and (2) the execution of p exerts some causal influence over the outputs of q; i.e. if p was abolished or the outputs of p were to be modified, this would necessarily affect q.|p 'causally upstream or within' q iff (1) the end of p is before the end of q and (2) the execution of p exerts some causal influence over the outputs of q; i.e. if p was abolished or the outputs of p were to be modified, this would necessarily affect q. tmpaxzxjjyw_mondo_relaxed.owl affects owl:TransitiveProperty BFO:0000063 biolink:NamedThing precedes x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|x precedes y if and only if the time point at which x ends is before or equivalent to the time point at which y starts. Formally: x precedes y iff ω(x) <= α(y), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpaxzxjjyw_mondo_relaxed.owl precedes|precedes owl:ObjectProperty RO:0002385 biolink:NamedThing has potential to developmentally contribute to x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y|x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002598 biolink:NamedThing capable of positively regulating Holds between c and p if and only if c is capable of some activity a, and a positively regulates p.|Holds between c and p if and only if c is capable of some activity a, and a positively regulates p. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002163 biolink:NamedThing spatially disjoint from A is spatially_disjoint_from B if and only if they have no parts in common|A is spatially_disjoint_from B if and only if they have no parts in common tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0000080 biolink:NamedThing quality of a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence|a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence tmpaxzxjjyw_mondo_relaxed.owl quality_of|is quality of|is quality of|quality_of This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. A quality inheres in its bearer at all times for which the quality exists.|A quality inheres in its bearer at all times for which the quality exists. this red color is a quality of this apple|this red color is a quality of this apple owl:ObjectProperty RO:0000086 biolink:NamedThing has_quality a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence tmpaxzxjjyw_mondo_relaxed.owl has_quality|has_quality A bearer can have many qualities, and its qualities can exist for different periods of time, but none of its qualities can exist when the bearer does not exist.|A bearer can have many qualities, and its qualities can exist for different periods of time, but none of its qualities can exist when the bearer does not exist. this apple has quality this red color|this apple has quality this red color owl:ObjectProperty RO:0002333 biolink:NamedThing enabled by inverse of enables|inverse of enables tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002297 biolink:NamedThing results in formation of tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002295 biolink:NamedThing results in developmental progression of p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss).|p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002023 biolink:NamedThing directly negatively regulated by Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1.|Process(P2) is directly negatively regulated by process(P1) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P2 directly negatively regulated by P1. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002630 biolink:NamedThing directly negatively regulates Process(P1) directly negatively regulates process(P2) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P1 directly negatively regulates P2.|Process(P1) directly negatively regulates process(P2) iff: P1 negatively regulates P2 via direct physical interaction between an agent executing P1 (or some part of P1) and an agent executing P2 (or some part of P2). For example, if protein A has protein binding activity(P1) that targets protein B and this binding negatively regulates the kinase activity (P2) of protein B then P1 directly negatively regulates P2. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002082 biolink:NamedThing simultaneous with tmpaxzxjjyw_mondo_relaxed.owl t1 simultaneous_with t2 iff:= t1 before_or_simultaneous_with t2 and not (t1 before t2)|t1 simultaneous_with t2 iff:= t1 before_or_simultaneous_with t2 and not (t1 before t2) David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0010001 biolink:NamedThing generically depends on A generically dependent continuant *b* generically depends on an independent continuant *c* at time *t* means: there inheres in *c* a specifically deendent continuant which concretizes *b* at *t*.|A generically dependent continuant *b* generically depends on an independent continuant *c* at time *t* means: there inheres in *c* a specifically deendent continuant which concretizes *b* at *t*. tmpaxzxjjyw_mondo_relaxed.owl g-depends on owl:ObjectProperty IAO:0000428 biolink:NamedThing requires discussion A term that is metadata complete, has been reviewed, and problems have been identified that require discussion before release. Such a term requires editor note(s) to identify the outstanding issues. tmpaxzxjjyw_mondo_relaxed.owl group:OBI requires discussion Alan Ruttenberg IAO:0000078 RO:0011002 biolink:NamedThing regulates activity of The entity A has an activity that regulates an activity of the entity B. For example, A and B are gene products where the catalytic activity of A regulates the kinase activity of B.|The entity A has an activity that regulates an activity of the entity B. For example, A and B are gene products where the catalytic activity of A regulates the kinase activity of B. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0000058 biolink:NamedThing is concretized as A relationship between a generically dependent continuant and a specifically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. A generically dependent continuant may be concretized as multiple specifically dependent continuants.|A relationship between a generically dependent continuant and a specifically dependent continuant, in which the generically dependent continuant depends on some independent continuant in virtue of the fact that the specifically dependent continuant also depends on that same independent continuant. A generically dependent continuant may be concretized as multiple specifically dependent continuants. tmpaxzxjjyw_mondo_relaxed.owl An investigator reads a protocol and forms a plan to carry out an assay. The plan is a realizable entity (a specifically dependent continuant) that concretizes the protocol (a generically dependent continuant), and both depend on the investigator (an independent continuant). The plan is then realized by the assay (a process).|A journal article is an information artifact that inheres in some number of printed journals. For each copy of the printed journal there is some quality that carries the journal article, such as a pattern of ink. The journal article (a generically dependent continuant) is concretized as the quality (a specifically dependent continuant), and both depend on that copy of the printed journal (an independent continuant).|An investigator reads a protocol and forms a plan to carry out an assay. The plan is a realizable entity (a specifically dependent continuant) that concretizes the protocol (a generically dependent continuant), and both depend on the investigator (an independent continuant). The plan is then realized by the assay (a process).|A journal article is an information artifact that inheres in some number of printed journals. For each copy of the printed journal there is some quality that carries the journal article, such as a pattern of ink. The journal article (a generically dependent continuant) is concretized as the quality (a specifically dependent continuant), and both depend on that copy of the printed journal (an independent continuant). owl:ObjectProperty RO:0002559 biolink:NamedThing causally influenced by tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002489 biolink:NamedThing existence starts with x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y).|x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y). tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002212 biolink:NamedThing negatively regulates Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2.|Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002177 biolink:NamedThing attached to part of a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b.|a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BFO:0000062 biolink:NamedThing preceded by X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X)|x is preceded by y if and only if the time point at which y ends is before or equivalent to the time point at which x starts. Formally: x preceded by y iff ω(y) <= α(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X)|x is preceded by y if and only if the time point at which y ends is before or equivalent to the time point at which x starts. Formally: x preceded by y iff ω(y) <= α(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpaxzxjjyw_mondo_relaxed.owl is preceded by|takes place after is preceded by|preceded_by|is preceded by|preceded_by An example is: translation preceded_by transcription; aging preceded_by development (not however death preceded_by aging). Where derives_from links classes of continuants, preceded_by links classes of processes. Clearly, however, these two relations are not independent of each other. Thus if cells of type C1 derive_from cells of type C, then any cell division involving an instance of C1 in a given lineage is preceded_by cellular processes involving an instance of C. The assertion P preceded_by P1 tells us something about Ps in general: that is, it tells us something about what happened earlier, given what we know about what happened later. Thus it does not provide information pointing in the opposite direction, concerning instances of P1 in general; that is, that each is such as to be succeeded by some instance of P. Note that an assertion to the effect that P preceded_by P1 is rather weak; it tells us little about the relations between the underlying instances in virtue of which the preceded_by relation obtains. Typically we will be interested in stronger relations, for example in the relation immediately_preceded_by, or in relations which combine preceded_by with a condition to the effect that the corresponding instances of P and P1 share participants, or that their participants are connected by relations of derivation, or (as a first step along the road to a treatment of causality) that the one process in some way affects (for example, initiates or regulates) the other.|An example is: translation preceded_by transcription; aging preceded_by development (not however death preceded_by aging). Where derives_from links classes of continuants, preceded_by links classes of processes. Clearly, however, these two relations are not independent of each other. Thus if cells of type C1 derive_from cells of type C, then any cell division involving an instance of C1 in a given lineage is preceded_by cellular processes involving an instance of C. The assertion P preceded_by P1 tells us something about Ps in general: that is, it tells us something about what happened earlier, given what we know about what happened later. Thus it does not provide information pointing in the opposite direction, concerning instances of P1 in general; that is, that each is such as to be succeeded by some instance of P. Note that an assertion to the effect that P preceded_by P1 is rather weak; it tells us little about the relations between the underlying instances in virtue of which the preceded_by relation obtains. Typically we will be interested in stronger relations, for example in the relation immediately_preceded_by, or in relations which combine preceded_by with a condition to the effect that the corresponding instances of P and P1 share participants, or that their participants are connected by relations of derivation, or (as a first step along the road to a treatment of causality) that the one process in some way affects (for example, initiates or regulates) the other. preceded by|preceded by http://www.obofoundry.org/ro/#OBO_REL:preceded_by|http://www.obofoundry.org/ro/#OBO_REL:preceded_by owl:TransitiveProperty RO:0002090 biolink:NamedThing immediately precedes tmpaxzxjjyw_mondo_relaxed.owl meets|ends_at_start_of|ends_at_start_of|meets X immediately_precedes_Y iff: end(X) simultaneous_with start(Y)|X immediately_precedes_Y iff: end(X) simultaneous_with start(Y) David Osumi-Sutherland|David Osumi-Sutherland owl:ObjectProperty RO:0004035 biolink:NamedThing acts upstream of, negative effect c 'acts upstream of, negative effect' p if c is enables f, and f is causally upstream of p, and the direction of f is negative|c 'acts upstream of, negative effect' p if c is enables f, and f is causally upstream of p, and the direction of f is negative tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004033 biolink:NamedThing acts upstream of or within, negative effect tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0000087 biolink:NamedThing has_role a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence tmpaxzxjjyw_mondo_relaxed.owl has_role|has_role A bearer can have many roles, and its roles can exist for different periods of time, but none of its roles can exist when the bearer does not exist. A role need not be realized at all the times that the role exists.|A bearer can have many roles, and its roles can exist for different periods of time, but none of its roles can exist when the bearer does not exist. A role need not be realized at all the times that the role exists. this person has role this investigator role (more colloquially: this person has this role of investigator)|this person has role this investigator role (more colloquially: this person has this role of investigator) owl:ObjectProperty RO:0002322 biolink:NamedThing confers advantage in tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002509 biolink:NamedThing determined by part of s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w.|s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty PMID:17921072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl PMID:20973947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl RO:0002176 biolink:NamedThing connects c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system.|c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004028 biolink:NamedThing realized in response to stimulus A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M.|A relationship between a realizable entity R (e.g. function or disposition) and a material entity M where R is realized in response to a process that has an input stimulus of M. tmpaxzxjjyw_mondo_relaxed.owl RO:0004028|RO:0004028 realized_in_response_to_stimulus|realized_in_response_to_stimulus owl:ObjectProperty RO:0002584 biolink:NamedThing has part structure that is capable of s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p|s 'has part structure that is capable of' p if and only if there exists some part x such that s 'has part' x and x 'capable of' p tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002597 biolink:NamedThing capable of negatively regulating Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p.|Holds between c and p if and only if c is capable of some activity a, and a negatively regulates p. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty disease_causes_dysfunction_of biolink:NamedThing disease causes dysfunction of tmpaxzxjjyw_mondo_relaxed.owl RO:0004025|RO:0004025 disease_causes_dysfunction_of|disease_causes_dysfunction_of owl:ObjectProperty RO:0002551 biolink:NamedThing has skeleton A relation between a segment or subdivision of an organism and the maximal subdivision of material entities that provides structural support for that segment or subdivision.|A relation between a segment or subdivision of an organism and the maximal subdivision of material entities that provides structural support for that segment or subdivision. tmpaxzxjjyw_mondo_relaxed.owl owl:IrreflexiveProperty RO:0004027 biolink:NamedThing disease has inflammation site A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity|A relationship between a disease and an anatomical entity where the disease is triggered by an inflammatory response to stimuli occurring in the anatomical entity tmpaxzxjjyw_mondo_relaxed.owl RO:0004027|RO:0004027 disease_has_inflammation_site|disease_has_inflammation_site owl:ObjectProperty RO:0004026 biolink:NamedThing disease has location A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity.|A relationship between a disease and an anatomical entity where the disease has one or more features that are located in that entity. tmpaxzxjjyw_mondo_relaxed.owl RO:0004026|RO:0004026 disease_has_location|disease_has_location owl:ObjectProperty RO:0002432 biolink:NamedThing is active in c executes activity in d if and only if c enables p and p occurs_in d. Assuming no action at a distance by gene products, if a gene product enables (is capable of) a process that occurs in some structure, it must have at least some part in that structure.|c executes activity in d if and only if c enables p and p occurs_in d. Assuming no action at a distance by gene products, if a gene product enables (is capable of) a process that occurs in some structure, it must have at least some part in that structure. tmpaxzxjjyw_mondo_relaxed.owl enables activity in owl:ObjectProperty RO:0002429 biolink:NamedThing involved in positive regulation of c involved in regulation of p if c is involved in some p' and p' positively regulates some p|c involved in regulation of p if c is involved in some p' and p' positively regulates some p tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002178 biolink:NamedThing supplies Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy.|Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0001018 biolink:NamedThing contained in tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0001019 biolink:NamedThing contains tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002507 biolink:NamedThing determined by s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s.|s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0000091 biolink:NamedThing has disposition a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence|a relation between an independent continuant (the bearer) and a disposition, in which the disposition specifically depends on the bearer for its existence tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002255 biolink:NamedThing developmentally contributes to inverse of has developmental contribution from|inverse of has developmental contribution from tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004017 biolink:NamedThing realizable has basis in tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty NCIT:R81 biolink:NamedThing Anatomic_Structure_Has_Location tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002256 biolink:NamedThing developmentally induced by t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor anatomical structure type T to T', where T' develops_from T|t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor anatomical structure type T to T', where T' develops_from T tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002450 biolink:NamedThing directly positively regulates activity of The entity A, immediately upstream of the entity B, has an activity that positively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B.|The entity A, immediately upstream of the entity B, has an activity that positively regulates an activity performed by B. For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B. tmpaxzxjjyw_mondo_relaxed.owl molecularly increases activity of owl:ObjectProperty RO:0004021 biolink:NamedThing disease has basis in disruption of A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process.|A relation that holds between the disease and a process where the physical basis of the disease disrupts execution of a key biological process. tmpaxzxjjyw_mondo_relaxed.owl RO:0004021|RO:0004021 Editor note: TODO property chain: disease_has_location <- dhbido o occurs_in|Editor note: TODO property chain: disease_has_location <- dhbido o occurs_in disease_has_basis_in_disruption_of|disease_has_basis_in_disruption_of owl:ObjectProperty BFO:0000163 biolink:NamedThing material basis of at all times tmpaxzxjjyw_mondo_relaxed.owl BFO_0000163|BFO_0000163 BFO_0000163s|BFO_0000163s BFO_0000163ed|BFO_0000163ed owl:ObjectProperty OBO:MF#manifestationOf biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl manifestationOf|manifestationOf manifestationOfs|manifestationOfs manifestationOfed|manifestationOfed owl:ObjectProperty BFO:0000054 biolink:NamedThing realized in tmpaxzxjjyw_mondo_relaxed.owl BFO:0000054|BFO:0000054 realized_in|realized_in owl:ObjectProperty RO:0002230 biolink:NamedThing ends with x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point.|x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. tmpaxzxjjyw_mondo_relaxed.owl finished by|finished by Chris Mungall|Chris Mungall owl:ObjectProperty RO:0002005 biolink:NamedThing innervated_by tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002327 biolink:NamedThing enables tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002376 biolink:NamedThing tributary of x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein.|x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002331 biolink:NamedThing involved in c involved_in p if and only if c enables some process p', and p' is part of p|c involved_in p if and only if c enables some process p', and p' is part of p tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BFO:0000117 biolink:NamedThing has occurrent part tmpaxzxjjyw_mondo_relaxed.owl BFO_0000117|BFO_0000117 BFO_0000117s|BFO_0000117s BFO_0000117ed|BFO_0000117ed owl:ObjectProperty BFO:0000132 biolink:NamedThing part of occurrent tmpaxzxjjyw_mondo_relaxed.owl BFO_0000132|BFO_0000132 BFO_0000132s|BFO_0000132s BFO_0000132ed|BFO_0000132ed owl:ObjectProperty RO:0002493 biolink:NamedThing existence ends with x existence ends with y if and only if the time point at which x ends is equivalent to the time point at which y ends. Formally: x existence ends with y iff ω(x) = ω(y).|x existence ends with y if and only if the time point at which x ends is equivalent to the time point at which y ends. Formally: x existence ends with y iff ω(x) = ω(y). tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBI:0000417 biolink:NamedThing achieves_planned_objective This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process.|This relation obtains between a planned process and a objective specification when the criteria specified in the objective specification are met at the end of the planned process. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002233 biolink:NamedThing has input p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p.|p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002573 biolink:NamedThing has modifier A relation that holds between an attribute or a qualifier and another attribute.|A relation that holds between an attribute or a qualifier and another attribute. tmpaxzxjjyw_mondo_relaxed.owl RO:0002573|RO:0002573 has_modifier|has_modifier owl:ObjectProperty RO:0000081 biolink:NamedThing role of a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence|a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence tmpaxzxjjyw_mondo_relaxed.owl is role of|role_of|is role of|role_of This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020.|This relation is modeled after the BFO relation of the same name which was in BFO2, but is used in a more restricted sense - specifically, we model this relation as functional (inherited from characteristic-of). Note that this relation is now removed from BFO2020. A role inheres in its bearer at all times for which the role exists, however the role need not be realized at all the times that the role exists.|A role inheres in its bearer at all times for which the role exists, however the role need not be realized at all the times that the role exists. this investigator role is a role of this person|this investigator role is a role of this person owl:ObjectProperty RO:0002254 biolink:NamedThing has developmental contribution from x has developmental contribution from y iff x has some part z such that z develops from y|x has developmental contribution from y iff x has some part z such that z develops from y tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002007 biolink:NamedThing bounding layer of X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000|X outer_layer_of Y iff: . X :continuant that bearer_of some PATO:laminar . X part_of Y . exists Z :surface . X has_boundary Z . Z boundary_of Y has_boundary: http://purl.obolibrary.org/obo/RO_0002002 boundary_of: http://purl.obolibrary.org/obo/RO_0002000 tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002379 biolink:NamedThing spatially coextensive with x spatially_coextensive_with y if and inly if x and y have the same location|x spatially_coextensive_with y if and inly if x and y have the same location tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004034 biolink:NamedThing acts upstream of, positive effect c 'acts upstream of, positive effect' p if c is enables f, and f is causally upstream of p, and the direction of f is positive|c 'acts upstream of, positive effect' p if c is enables f, and f is causally upstream of p, and the direction of f is positive tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0004047 biolink:NamedThing causally upstream of or within, positive effect tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBI:0000299 biolink:NamedThing has_specified_output A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of.|A relation between a planned process and a continuant participating in that process. The presence of the continuant at the end of the process is explicitly specified in the objective specification which the process realizes the concretization of. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002100 biolink:NamedThing has soma location Relation between a neuron and an anatomical structure that its soma is part of.|Relation between a neuron and an anatomical structure that its soma is part of. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:pato#increased_in_magnitude_relative_to biolink:NamedThing increased_in_magnitude_relative_to q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale.|q1 increased_in_magnitude_relative_to q2 if and only if magnitude(q1) > magnitude(q2). Here, magnitude(q) is a function that maps a quality to a unit-invariant scale. tmpaxzxjjyw_mondo_relaxed.owl owl:TransitiveProperty RO:0004022 biolink:NamedThing disease arises from feature A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature.|A relation that holds between the disease and a feature (a phenotype or other disease) where the physical basis of the disease is the feature. tmpaxzxjjyw_mondo_relaxed.owl RO:0004022|RO:0004022 disease_arises_from_feature|disease_arises_from_feature owl:ObjectProperty RO:0002430 biolink:NamedThing involved in negative regulation of c involved in regulation of p if c is involved in some p' and p' negatively regulates some p|c involved in regulation of p if c is involved in some p' and p' negatively regulates some p tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002229 biolink:NamedThing ends Relation between occurrents, shares an end boundary with.|inverse of ends with|inverse of ends with|Relation between occurrents, shares an end boundary with. tmpaxzxjjyw_mondo_relaxed.owl finishes Chris Mungall|Chris Mungall owl:ObjectProperty OBI:0000293 biolink:NamedThing has_specified_input A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of.|A relation between a planned process and a continuant participating in that process that is not created during the process. The presence of the continuant during the process is explicitly specified in the plan specification which the process realizes the concretization of. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002447 biolink:NamedThing phosphorylates tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002374 biolink:NamedThing derived from ancestral fusion of x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat|x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat tmpaxzxjjyw_mondo_relaxed.owl has fused element owl:ObjectProperty RO:0002568 biolink:NamedThing has muscle antagonist m1 has_muscle_antagonist m2 iff m1 has_muscle_insertion s, m2 has_muscle_insection s, m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position.|m1 has_muscle_antagonist m2 iff m1 has_muscle_insertion s, m2 has_muscle_insection s, m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:mondo/patterns/inherited_susceptibility.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/214370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#harrisons_view biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl harrisons_view owl:AnnotationProperty https://omim.org/entry/126950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/233710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:34217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#ordo_malformation_syndrome biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl malformation syndrome owl:AnnotationProperty MESH:C564557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0553576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#gard_rare biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GARD rare disease subset owl:AnnotationProperty UMLS:C0281334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:species biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722108000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#ordo_disease biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl disease owl:AnnotationProperty OBO:mondo/sparql/qc/general/qc-single-child.sparql biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/adenosquamous_carcinoma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/232900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:102284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/specific_disease_by_dysfunctional_structure.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class IAO:0000227 biolink:NamedThing terms merged tmpaxzxjjyw_mondo_relaxed.owl An editor note should explain what were the merged terms and the reason for the merge. terms merged IAO:0000225 UMLS:C2987398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10021312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:23849003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:class biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#ordo_histopathological_subtype biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl histopathological subtype owl:AnnotationProperty UMLS:C0334384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005569 biolink:NamedThing obsolete cartilage disease Softening and degeneration of the CARTILAGE. Pathological processes involving the chondral tissue (CARTILAGE). tmpaxzxjjyw_mondo_relaxed.owl disease of cartilage tissue|disease or disorder of cartilage tissue|chondropathy|cartilage tissue disease|cartilage disorder|cartilage tissue disease or disorder|disorder of cartilage tissue out of scope ICD10:M94.9|UMLS:C0007302|EFO:0005802|ICD9:733.99|MESH:D002357|ICD10:M91-M94|SCTID:50927007|DOID:1222 Reason: grouping class. MONDO_0003900 True https://github.com/monarch-initiative/mondo/issues/3576 owl:Class MESH:D002357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/location.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021103 biolink:NamedThing obsolete collagen diseases Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that 'collagen' was equivalent to 'connective tissue', but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term 'collagen diseases' now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494) tmpaxzxjjyw_mondo_relaxed.owl diseases, collagen|disease, collagen|collagen disorder|collagen disease SCTID:81573002|DOID:854|ICD9:710.8|ICD9:710.9|UMLS:C0009326|MESH:D003095 MONDO:0003900|MONDO:0005554 True owl:Class UMLS:C0009326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1279945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C88411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717812000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#clingen biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl initial subset used by clingen owl:AnnotationProperty OBO:mondo#disease_grouping biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl disease_grouping owl:AnnotationProperty NCIT:C5282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/313420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS151623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#obsoletion_candidate biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl obsoletion candidate owl:AnnotationProperty https://omim.org/entry/212070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:69127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/chronic.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3714942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C156952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty DOID:1751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:200946001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3896673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#ordo_group_of_disorders biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl group of disorders owl:AnnotationProperty DOID:5553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766761000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10060740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733045005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126865007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/benign_neoplasm.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724039002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:genus biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#ordo_clinical_subtype biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl clinical subtype owl:AnnotationProperty https://omim.org/entry/117900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C80307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47125007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14683004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/223370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10052594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/specific_infectious_disease_by_location.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:392662004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14232007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C117111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018652 biolink:NamedThing obsolete biological anomaly without phenotypic characterization tmpaxzxjjyw_mondo_relaxed.owl out of scope Orphanet:447874 This is a biological anomaly and not a disease. True owl:Class ORPHA:447874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126948004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:389203001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10051981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#ordo_morphological_anomaly biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl morphological anomaly owl:AnnotationProperty ORPHA:93404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:superfamily biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:subclass biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:65284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399964004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017655 biolink:NamedThing obsolete progressive epilepsy and/or ataxia with myoclonus as a major feature tmpaxzxjjyw_mondo_relaxed.owl Orphanet:306762 True https://github.com/monarch-initiative/mondo/projects/6 owl:Class SNOMEDCT:71404003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56677004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4085243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:192761004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:398028009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68409003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014330 biolink:NamedThing obsolete eculizumab, poor response to tmpaxzxjjyw_mondo_relaxed.owl eculizumab, poor response to UMLS:C3810402|OMIM:615749 True owl:Class UMLS:C3810402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020003 biolink:NamedThing obsolete rare surgical cardiac disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000001 Orphanet:97965|UMLS:CN206936 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:1571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0852949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:410016009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/OMIM_phenotypic_series.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237945003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:subgenus biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/susceptibility_by_gene.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:448054001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3854048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/302030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:subfamily biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C87110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:297233004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:family biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#prototype_pattern biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl Conforms to the prototype design pattern where the classic/type1 form may be confused with the grouping type. See https://github.com/monarch-initiative/monarch-disease-ontology/issues/149 owl:AnnotationProperty NCIT:C35056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1533587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C133742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72815004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/inborn_metabolic_disrupts.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126635000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/144700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018728 biolink:NamedThing obsolete rare genetic capillary malformation tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016231 UMLS:CN242077|Orphanet:459526 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class http://purl.oboInOwllibrary.org/oboInOwl/po#CL biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1832918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C62591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10017915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0311227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/168400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:422588002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016606 biolink:NamedThing obsolete prenatal benign hypophosphatasia Prenatal benign hypophosphatasia (PB-HPP) is a very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later develop into the milder infantile, childhood or adult forms of the disease. tmpaxzxjjyw_mondo_relaxed.owl prenatal benign Rathburn disease|prenatal benign phosphoethanolaminuria out of scope UMLS:CN201801|ICD10:E83.3|Orphanet:247638 http://purl.obolibrary.org/obo/MONDO_0600009|http://purl.obolibrary.org/obo/MONDO_0600010|http://purl.obolibrary.org/obo/MONDO_0600011 True https://github.com/monarch-initiative/mondo/issues/2906 owl:Class MEDDRA:10058514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:251159007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0343082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C12326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111388003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56819008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10038857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77949003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/104600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C119051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280296 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:hp.obo#hposlim_core biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/618443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS153840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65074000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015906 biolink:NamedThing obsolete rare disorder with hypergonadotropic hypogonadism tmpaxzxjjyw_mondo_relaxed.owl rare disorder with primary hypogonadism MONDO:0000001 UMLS:CN226785|Orphanet:181441 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0110236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0035398 biolink:NamedThing obsolete hypomyelination of early myelinating structures tmpaxzxjjyw_mondo_relaxed.owl HEMS out of scope Orphanet:599376 Reason: is a phenotype and not a disease. HP:0003429 True owl:Class OBO:mondo/patterns/location_top.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-9990-8331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C43558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:480851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0281361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/200990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:26597004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/163400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/benign.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:360455002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3806412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57917004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720827002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718606005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:423470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:438476003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766760004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254756007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10010670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:397933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/infectious_disease_by_agent.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:50839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/115900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:208650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702444009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715665006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0000784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C0409977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70737009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/136570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57602001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D052159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:118615008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C87101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C157711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0334495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404068003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721837000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/250230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763462004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/309480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:443236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007778 biolink:NamedThing obsolete hypertelorism A condition in which there is an abnormally increased distance between two organs or bodily parts; most often, this term is referring to an increased distance between the orbits (orbital hypertelorism). tmpaxzxjjyw_mondo_relaxed.owl hypertelorism of orbit|hypertelorism|obsolete hypertelorism (disease) obsolete hypertelorism (disease) MESH:D006972|SCTID:22006008|HP:0000316|OMIM:145400|NCIT:C34715|ICD9:376.41 Hypertelorism is a phenotypic feature. HP:0000316 True https://github.com/monarch-initiative/mondo/issues/1574 owl:Class SNOMEDCT:22006008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3806670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#predisposition biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl Diseases that are pre-dispositions to other diseases owl:AnnotationProperty https://omim.org/entry/231900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/112370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/272430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019410 biolink:NamedThing obsolete nodulosis-arthropathy-osteolysis syndrome tmpaxzxjjyw_mondo_relaxed.owl NAO syndrome|multicentric osteolysis-nodulosis-arthropathy syndrome ICD10:M89.5|OMIM:277950|UMLS:CN206138|OMIM:259600|Orphanet:85196 Obsolete in Orphanet MONDO:0018298 True owl:Class UMLS:C0023381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/236800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/squamous_cell_carcinoma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:43153006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015122 biolink:NamedThing obsolete rare diabetes mellitus Rare diabetes mellitus. tmpaxzxjjyw_mondo_relaxed.owl rare diabetes mellitus (disease)|rare diabetes mellitus MONDO:0005015 Orphanet:101952|UMLS:CN226600 UMLS:C0011849|UMLS:C0011860 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D004403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10018338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75403004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237444008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS158600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS203655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/specific_inflammatory_disease_by_site.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:496693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/sarcoma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0338451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS251300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:25470000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:10501004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/acute.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:phylum biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D059270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1367536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/188030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0395818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020012 biolink:NamedThing obsolete systemic or rheumatic disease tmpaxzxjjyw_mondo_relaxed.owl out of scope MONDO:0000001 True owl:Class https://github.com/monarch-initiative/mondo/issues/3570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015870 biolink:NamedThing obsolete rare malignant breast tumor Any of the forms of breast cancer that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare breast cancer MONDO:0007254 Orphanet:180257|UMLS:CN200474 UMLS:C0006142|UMLS:C0678222 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN200474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS210900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:86448001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10023284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:203639008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:443173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:34781003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016517 biolink:NamedThing obsolete rare genetic vascular disease Rare genetic vascular disease. tmpaxzxjjyw_mondo_relaxed.owl rare genetic vascular disease MONDO:0005385 UMLS:CN201558|Orphanet:233655 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN201558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015120 biolink:NamedThing obsolete rare acquired eye disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000001 UMLS:CN197477|Orphanet:101949 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class OBO:mondo/sparql/qc/mondo/qc-omim-subsumption.sparql biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0474442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720812002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73998008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0044699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:26137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1377853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:442652006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:tribe biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240450004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/178200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724225008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:ncbitaxon.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:416209007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:45452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719662000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0851140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:94087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N723cc0879b424f38b2c3e80da3f46841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N4878afb398494b7a8872bb18796f197e biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N6d92054d0096427db9cb42327b51eadc biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl Ne14c9db141a54bdfb39b57668e151b3b biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N6d3130e6974840ff9b4abfb598e5f688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N9df9abbc721c40fba74a3862ee72fb54 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl Nefe363f21f6843c0b657311407b3908b biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N4ec8645cf14642778e9a22a3944a8051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl Nab3b23fa11cd4686ab3115779e728ca6 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl Ndc763f9a87be402b8ee90cb7130c6f03 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N15b8b5a3c6f847f7bf9c8febd5c30441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl Ndba488e991f740e092a9baef8613910c biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl Nac31776c0b7f414da9b5c520a6f1d4c8 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N70074d9c8e31496c94792432892a201b biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N021f8417e3254fc5a19896409d182fd7 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N7e019deb9bce4738ab9d632d7e8f8904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N1f4bc081d6c34c14b53e2efcd1835708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N33f4d3202fca4b5ab06304b76ab0c8b8 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl Nf1caace043804b6e8d440954124207fa biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/autosomal_recessive.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1306229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89647000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C124575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763351003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720987001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1320640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10061988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/157170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/adenocarcinoma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14333004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766251006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:64612002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49607006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720502000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:408856003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:146801000119103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D055653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/134540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:69087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021200 biolink:NamedThing obsolete rare disease Any of the forms of disease that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare disease or disorder|rare disease|rare diseases|rare disorder MONDO:0000001 NCIT:C4873|MESH:D035583 At this time we do not have a formal definition but this should correspond to ORDO classification of rare diseases UMLS:C0678236 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D035583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87049008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83275001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10019165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007821 biolink:NamedThing obsolete immunoglobulin switch sequences tmpaxzxjjyw_mondo_relaxed.owl immunoglobulin switch sequences|Immunoglobulin-independent switch Sequences|S Sequences out of scope UMLS:C1840234|OMIM:147260 Reason: out of scope. True owl:Class https://github.com/monarch-initiative/mondo/issues/3955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:39812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717763008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-5208-3432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C172705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/acquired.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:508512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019709 biolink:NamedThing obsolete cleidocranial dysplasia and isolated cranial ossification defect tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93451 True owl:Class ORPHA:93451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017680 biolink:NamedThing obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature Orphanet:308041|UMLS:CN203567 True https://github.com/monarch-initiative/mondo/pull/2317 owl:Class MONDO:0017678 biolink:NamedThing obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature A disease in which punctate palmoplantar keratoderma is a major feature.. tmpaxzxjjyw_mondo_relaxed.owl disease with punctate palmoplantar hyperkeratosis as a major feature MONDO:outOfScope This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature. UMLS:CN203565|Orphanet:308023 True https://github.com/monarch-initiative/mondo/issues/1521|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:71203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:231924000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/110050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:37779008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765057007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:410041002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1306837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:44245003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/specific_disease_by_disrupted_process.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:clade biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:300706003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/182990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0009319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10047712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/313400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:serotype biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:431361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363384006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763748007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0543541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/inborn_metabolic.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702373006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10018048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/273740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84241008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0266999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/cancer.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:279934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2111671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3668940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236527004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:502369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239001006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126972009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/meningioma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:88 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014424 biolink:NamedThing obsolete congenital deficiency in alpha-fetoprotein Congenital deficiency in alpha-fetoprotein is a benign genetic condition characterized by a dramatically decreased level of alpha-fetoprotein in fetus or neonate. tmpaxzxjjyw_mondo_relaxed.owl ALPHA-fetoprotein deficiency|AFPD out of scope Orphanet:168612|MESH:C566300|UMLS:C1863081|OMIM:615969 This is a biological anomaly and not a disease. True owl:Class https://github.com/monarch-initiative/mondo/issues/181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3892050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:67383002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:192781003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721073008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722429003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020008 biolink:NamedThing obsolete rare immune disease Rare immune system disease. tmpaxzxjjyw_mondo_relaxed.owl rare immune system disease MONDO:0005046 Orphanet:98004|UMLS:CN206942 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0080471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:129635004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10051906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:51208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C120169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:243377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763796007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C121799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715421009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D055036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:266162007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238776001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4288091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015513 biolink:NamedThing obsolete rare genetic endocrine disease A form of endocrine system disease that is both rare and inborn. tmpaxzxjjyw_mondo_relaxed.owl rare genetic endocrine system disease MONDO:0005151 UMLS:CN199645|Orphanet:156638 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C159072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0265210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017637 biolink:NamedThing obsolete rare parkinsonian syndrome due to intoxication tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:306679|UMLS:CN203533 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1283620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:420733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4305240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/263610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015904 biolink:NamedThing obsolete rare hypolipidemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000001 UMLS:CN226783|Orphanet:181431 ICD10:E78.6 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3828464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13816006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38494008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016404 biolink:NamedThing obsolete metabolic neurotransmission anomaly with epilepsy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:225707 True owl:Class ORPHA:3071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:200037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230438007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3278211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class OBO:mondo/patterns/adult.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403780007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10042926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/188470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/118750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10019055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10062606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65937002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0546394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/neoplasm.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234440005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363428005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:order biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1399354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017141 biolink:NamedThing obsolete hemorrhagic disorder due to a constitutional thrombocytopenia tmpaxzxjjyw_mondo_relaxed.owl rare bleeding disorder due to a constitutional thrombocytopenia|rare hemorrhagic disorder due to a quantitative platelet defect|rare hemorrhagic disorder due to a constitutional thrombocytopenia|rare coagulopathy due to a quantitative platelet defect|rare coagulopathy due to a constitutional thrombocytopenia|rare bleeding disorder due to a quantitative platelet defect out of scope Orphanet:275729|UMLS:CN227098 MONDO:0002243 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:275729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238074007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3281001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/vectorBorneDisease.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D057135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:275598004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017259 biolink:NamedThing obsolete systemic diseases with anterior uveitis tmpaxzxjjyw_mondo_relaxed.owl out of scope UMLS:CN202777|Orphanet:280926 This is a grouping class that is considered out of scope. MONDO:0006651 True owl:Class DOID:0080236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1136033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5913000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000791 biolink:NamedThing obsolete carp allergy A allergy involving a Cyprinus carpio. tmpaxzxjjyw_mondo_relaxed.owl Cyprinus carpio caused allergic disease|Cyprinus carpio fish allergy|Cyprinus carpio allergic disease|allergy of Cyprinus carpio MONDO:outOfScope DOID:0060516 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0275932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:211247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015186 biolink:NamedThing obsolete rare tumor of intestine Rare intestinal neoplasm. tmpaxzxjjyw_mondo_relaxed.owl rare intestinal tumor|rare tumor of bowel|rare intestinal neoplasm MONDO:0021118 Orphanet:104011 UMLS:C0021841 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:213792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235132004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS126800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63363004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716089008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:39452003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719513008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015851 biolink:NamedThing obsolete rare breast malformation tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:180163 UMLS:C0266008 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:180163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:64734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:398971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81604003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719686003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/autoimmune.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004167 biolink:NamedThing obsolete lung clear cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024386 UMLS:C0345959|DOID:7267|SCTID:254630009 True owl:Class DOID:7267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/168100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234577004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239121009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717761005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126954003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:505237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015885 biolink:NamedThing obsolete rare insulin-resistance syndrome A cluster of closely related metabolic abnormalities associated with insulin resistance that confer an increased risk of the development of type 2 diabetes and cardiovascular disease. These abnormalities may include obesity, high blood pressure, abnormal cholesterol levels, proteinuria, and/or polycystic ovary syndrome. tmpaxzxjjyw_mondo_relaxed.owl insulin Resistance syndrome MONDO:outOfScope Orphanet:181368|UMLS:C3714619|NCIT:C113169 Editor note: was classified as genetic DM by orphanet, but some subtypes (e.g. acquired generalized lipodystrophy) may not be genetic True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C3810359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7180009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/inflammatory_disease_by_site.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1412041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:63862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60412004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:408647009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/realized_in_response_to_environmental_exposure.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/209880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:71213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:70475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72052003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:387759001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715441004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702423009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/254210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/310460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/carcinoma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10021808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722036008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/neuroendocrine_neoplasm.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/135750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:398961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/147950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN043592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:26682008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/186350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230387008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239088003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN130080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10025169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:67685000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:69163003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018396 biolink:NamedThing obsolete rare male fertility disorder with obstructive azoospermia tmpaxzxjjyw_mondo_relaxed.owl rare disorder due to impaired sperm transport|rare disorder with obstructive azoospermia MONDO:outOfScope UMLS:CN227342|Orphanet:399824 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:13089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1719382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:197660000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:200994002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0599464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/carcinoma_in_situ.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254240003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/218550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:421529006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35868009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400085009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/176900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020186 biolink:NamedThing obsolete eyebrow hypertrophy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98596 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class DOID:0060299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:80544005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/234030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/122880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C579928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:88924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MESH:C538171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205468002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402415001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0079840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D031954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92788005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10023376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/101000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4055342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/228520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363417006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234422006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:279894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007960 biolink:NamedThing obsolete megacystis-microcolon-intestinal hypoperistalsis syndrome tmpaxzxjjyw_mondo_relaxed.owl terms split MONDO:0100354 True https://github.com/monarch-initiative/mondo/issues/3154 owl:Class MESH:D010981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C89801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/313000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235906009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/disrupts_process.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/156600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/273390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/hereditary.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30188007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19133005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230264003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS610542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:90496008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/231070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS223360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D065173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399183005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017631 biolink:NamedThing obsolete rare tumor of gallbladder and extrahepatic biliary tract tmpaxzxjjyw_mondo_relaxed.owl rare tumor of gallbladder and EBT MONDO:outOfScope UMLS:C0750952|Orphanet:306633 Editor note: TODO True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0750952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020188 biolink:NamedThing obsolete congenital absence of the eyebrow/eyelashes tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98598 HP:0002223|HP:0000653 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class SNOMEDCT:763203009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235075007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018520 biolink:NamedThing obsolete rare epithelial tumor of pancreas tmpaxzxjjyw_mondo_relaxed.owl rare pancreatic epithelial tumor MONDO:outOfScope Orphanet:424033|UMLS:CN237523 Editor note: TODO True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:420402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:459051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:parvorder biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2749477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007021 biolink:NamedThing obsolete wheat allergic disease Allergic reaction to wheat that is triggered by the immune system. tmpaxzxjjyw_mondo_relaxed.owl wheat allergy|wheat allergic reaction|allergic disease from wheat based food product|allergy of wheat based food product|wheat based food product allergic disease|allergy to wheat MONDO:outOfScope UMLS:C0949570|SCTID:420174000|EFO:1001243|MESH:D021182|DOID:3660 ICD9:995.3 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:3660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0000774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0750903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716651004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:10720004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/219900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:71638002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10017852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:562569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766755003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D051270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:439127006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10016221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89188001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126787005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:48736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:64572001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716683005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007521 biolink:NamedThing obsolete egasyn tmpaxzxjjyw_mondo_relaxed.owl esterase 22|egasyn OMIM:129905 This is a gene, not a disease. True https://github.com/monarch-initiative/mondo/issues/1452 owl:Class https://omim.org/entry/129905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015911 biolink:NamedThing obsolete rare acquired hemolytic anemia Hemolytic anemia, the cause of which is not present at birth. tmpaxzxjjyw_mondo_relaxed.owl Acquired hemolytic Anemia MONDO:0003664 SCTID:4854004|NCIT:C34377|Orphanet:182047 ICD10:D59.8|ICD10:D59.6|ICD10:D59.1|ICD10:D59.3|ICD10:D59.2|ICD10:D59.0|ICD10:D59.9|ICD10:D59.4|ICD10:D59.5|UMLS:C0002879 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C3092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:42642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:270516002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10051358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3808786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699269005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:67924001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:24225004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3543826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10018250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018397 biolink:NamedThing obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder tmpaxzxjjyw_mondo_relaxed.owl rare female infertility due to hypothalamic-pituitary-ovarian axis disorder|rare female infertility due to gonadotropic axis disorder MONDO:outOfScope Orphanet:399831|UMLS:CN227343 ICD10:N97.0 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:34592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92185002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MESH:C566356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/x_linked.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/lymphoma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128474007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733096007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718141008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/201250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10010539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018514 biolink:NamedThing obsolete rare epithelial tumor of rectum Any of the forms of epithelial neoplasm of rectum that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare rectal epithelial tumor|rare epithelial neoplasm of rectum MONDO:0024476 Orphanet:423998|UMLS:CN237519 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MEDDRA:10039712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS142700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234638009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000086382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718227006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C168758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020004 biolink:NamedThing obsolete rare eye disease Rare eye disease. tmpaxzxjjyw_mondo_relaxed.owl rare eye disease MONDO:0005328 Orphanet:97966|UMLS:CN206937 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:447275002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:91981009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:488197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1368275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/302803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10051585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13200003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66999008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:732949006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/juvenile.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/102730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#n_of_one biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl N of one owl:AnnotationProperty NCIT:C75009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:26039008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70650003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/138340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/210740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020277 biolink:NamedThing obsolete ectodermal malformation syndrome associated with ocular features tmpaxzxjjyw_mondo_relaxed.owl out of scope MONDO:0005328 True owl:Class https://github.com/monarch-initiative/mondo/issues/324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017663 biolink:NamedThing obsolete inherited tremor disorder tmpaxzxjjyw_mondo_relaxed.owl rare genetic myoclonus out of scope Orphanet:307064|UMLS:CN227173|UMLS:CN227174|Orphanet:307061 MONDO:0005395 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:502499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/237500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:387712008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10062647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:290653008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/143200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57044006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92549006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1135993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/186950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59229005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0002-2825-0621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:134335004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C124303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C565587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/231080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:316244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS100300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:232006002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C80303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93827000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018598 biolink:NamedThing obsolete neonatal adrenoleukodystrophy Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). tmpaxzxjjyw_mondo_relaxed.owl NALD|adrenoleukodystrophy autosomal neonatal form out of scope SCTID:238061001|OMIM:614885|OMIM:614871|UMLS:C0282525|ICD10:E71.511|OMIM:614863|ICD10:E71.3|OMIM:614873|OMIM:614920|OMIM:266510|OMIM:614867|OMIM:614877|OMIM:202370|OMIM:601539|GARD:0000559|Orphanet:44|NCIT:C99251 MONDO:0019609 True https://rarediseases.info.nih.gov/diseases/559/neonatal-adrenoleukodystrophy|https://github.com/monarch-initiative/mondo/issues/3222 owl:Class NCIT:C99251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:71787009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2932717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0600336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/125250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:67039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:419728003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:29072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205260006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721147000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720518006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020192 biolink:NamedThing obsolete rare lacrimal system disease Any of the forms of lacrimal apparatus disease that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare lacrimal apparatus disease MONDO:0001854 Orphanet:98602 UMLS:C0022904 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C3443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/poisoning.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C157526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty NCIT:C142174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:64720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/243200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719663005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4287997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699306003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718219002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:398623004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/250420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017368 biolink:NamedThing obsolete systemic disease with skin involvement tmpaxzxjjyw_mondo_relaxed.owl out of scope Orphanet:290836|UMLS:CN203041 This is a grouping class that is considered out of scope. MONDO:0005093 True owl:Class https://github.com/monarch-initiative/mondo/issues/3612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/186500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/226750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/245570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0021843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:78 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722381004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:uberon.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703335004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238004006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14821001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84801008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:2237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719666002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018700 biolink:NamedThing obsolete pseudohypoparathyroidism without Albright hereditary osteodystrophy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:457062 True owl:Class ORPHA:457062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/leiomyosarcoma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400179000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254942002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/128500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:194373002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763837007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS617877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C548072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3891556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1290309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715504003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016055 biolink:NamedThing obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:199639|UMLS:CN200739 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class SNOMEDCT:721229003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/211800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019389 biolink:NamedThing obsolete X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:83648|ICD10:Q87.0|UMLS:CN227624 Obsoleted in Orphanet True https://github.com/monarch-initiative/mondo/issues/2131 owl:Class UMLS:CN227624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2700593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51239001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/175500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109441000119102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0235522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92170008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN036412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS312170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763309005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10070904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109620006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:448990005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/228560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS214450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/214800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0086647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2242813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#ordo_etiological_subtype biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl etiological subtype owl:AnnotationProperty MESH:D001883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0496859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017633 biolink:NamedThing obsolete rare intoxication due to medical products tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:306640|UMLS:CN227165 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C2677338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:357034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:8149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/259650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764500002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/childhood.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015328 biolink:NamedThing obsolete rare bone development disorder Any of the forms of bone development disease that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare skeletal development disorder|bone development disorder|rare bone development disease MONDO:0005497 NCIT:C34432|Orphanet:139012 UMLS:C0005941 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C34432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C112843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56478004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10012468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5900006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10065156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4084708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020152 biolink:NamedThing obsolete rare eyelid malformation tmpaxzxjjyw_mondo_relaxed.owl eyelid malformation MONDO:outOfScope Orphanet:98561 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C99267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9014002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254589009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:12045002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1449842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/adenoma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725904009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015332 biolink:NamedThing obsolete rare developmental defect with connective tissue involvement tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:139030|UMLS:CN199362 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:703533007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0496769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018406 biolink:NamedThing obsolete rare male infertility due to adrenal disorder of genetic origin tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN227351|Orphanet:399994 ICD10:N46 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10013812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016632 biolink:NamedThing obsolete thrombotic disorder due to a coagulation factors defect tmpaxzxjjyw_mondo_relaxed.owl out of scope UMLS:CN226982|Orphanet:248358 MONDO:0000831 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/3456 owl:Class NCIT:C3825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10037114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1096639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:487796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254669003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:449866003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015972 biolink:NamedThing obsolete rare constitutional anemia A form of anemia (disease) that is both rare and inborn. tmpaxzxjjyw_mondo_relaxed.owl rare genetic anemia (disease)|rare inborn anemia (disease)|rare constitutional anemia (disease) MONDO:0002280 Orphanet:183651|UMLS:CN226818 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/271700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10054895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class NCIT:C84656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017797 biolink:NamedThing obsolete rare odontologic tumor Any of the forms of odontogenic neoplasm that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare odontogenic tumor|rare odontogenic neoplasm MONDO:0021192 UMLS:CN203756|Orphanet:314425 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN203996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C150603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718124006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10000454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10023249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C79597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302820008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707356001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D063647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111359004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3899675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/228600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/251850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/105400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:88918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015889 biolink:NamedThing obsolete rare hypothalamic or pituitary disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200503|Orphanet:181384 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C567653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/173000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719431007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:502366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:250831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1299627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020002 biolink:NamedThing obsolete rare surgical thoracic disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000001 Orphanet:97962|UMLS:CN206935 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17155009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31993003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:214600002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/154020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019047 biolink:NamedThing obsolete rare deafness Any of the forms of hearing loss that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl total deafness|rare hearing loss|complete deafness MONDO:0005365 UMLS:CN227564|Orphanet:68361|NCIT:C36194 UMLS:C3711374|UMLS:C0581883 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0262404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128862000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:6807001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54266002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702360007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1412037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:8578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:449427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:211017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:48868008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720981000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:154283005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10019308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001872 biolink:NamedThing obsolete vestibular nystagmus tmpaxzxjjyw_mondo_relaxed.owl Nystagmus associated with disorder of the vestibular system|vestibular nystagmus|obsolete vestibular nystagmus (disease) obsolete vestibular nystagmus (disease) HP:0010542 SCTID:46888001|UMLS:C0155379|ICD9:379.54|DOID:14070 True owl:Class SNOMEDCT:46888001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/192315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0474836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10050363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:20943002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60130002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/233690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2985290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:268185002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018235 biolink:NamedThing obsolete dysostosis with limb anomaly as a major feature tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:364568 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class SNOMEDCT:13280000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/255500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10062499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1512740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015982 biolink:NamedThing obsolete rare genetic intellectual disability Rare genetic intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl rare genetic intellectual disability MONDO:0001071 UMLS:CN226821|Orphanet:183757 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/121450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/242550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/114150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018719 biolink:NamedThing obsolete obsolete rare capillary malformation with associated anomalies tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope A grouping term that is probably not used clinically. Orphanet:458830|UMLS:CN242066|MONDO:0016231 True https://github.com/monarch-initiative/mondo/issues/1727|https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0016343 biolink:NamedThing obsolete unclassified cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl out of scope Orphanet:217678 MONDO:0004994 True https://github.com/monarch-initiative/mondo/issues/2824 owl:Class ORPHA:217678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19087001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:186738001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:317430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715789009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400123002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234589002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:123752003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:221091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/malignant.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15802004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0344976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019174 biolink:NamedThing obsolete infantile Refsum disease Infantile Refsum disease (IRD) is the mildest variant of the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD- ZSS), characterized by hypotonia, retinitis pigmentosa, developmental delay, sensorineural hearing loss and liver dysfunction. Phenotypic overlap is seen between IRD and neonatal adrenoleukodystrophy (NALD). tmpaxzxjjyw_mondo_relaxed.owl out of scope Orphanet:772|OMIM:614863|OMIM:614873|SCTID:238062008|ICD10:G60.1|OMIM:614877|OMIM:202370|OMIM:614920|OMIM:266510|OMIM:614867|OMIM:601539|NCIT:C84789|MESH:D052919|GARD:0004648|OMIM:614885|UMLS:C0282527|OMIM:614871 MONDO:0100259 True https://github.com/monarch-initiative/mondo/issues/3222 owl:Class MESH:D052919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:88939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C38158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016766 biolink:NamedThing obsolete rare lichen planus Lichen planus (LP) is a common inflammatory dermatosis characterized by the development of pruritic violaceous papules or plaques on mucocutaneous surfaces. Eruptions can involve the face, neck, limbs, back, genitalia, tongue, buccal mucosa, nails, and scalp. LP comprises rare variants affecting the skin and the mucosa. Rare cutaneous LP includes linear LP (referring to blaschkoid and zosteriform distributions of lichenoid lesions), actinic LP, annular LP, atrophic LP, annular atrophic LP, lichen planopilaris (comprising Graham Little-Piccardi-Lassueur syndrome and frontal fibrosing alopecia), lichen planus pigmentosus, and lichen planus pemphigoides. Rare mucosal LP includes vulvovaginal gingival syndrome and LP sialadenitis. tmpaxzxjjyw_mondo_relaxed.owl rare lichen planus|rare LP MONDO:0006572 GARD:0012344|Orphanet:254367 ICD10:L43.3|ICD10:L66.1|ICD10:L43.2|ICD10:L43.9|ICD10:L43.0|ICD10:L43.1|UMLS:C0023646|ICD10:L43.8 True https://github.com/monarch-initiative/mondo/issues/254|https://rarediseases.info.nih.gov/diseases/12344/rare-lichen-planus owl:Class SNOMEDCT:278046008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/102400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236746000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2918000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1306574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205132000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:700111000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763719001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:54260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:37559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10001767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:201191004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715828006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719827008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:suborder biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019748 biolink:NamedThing obsolete rare cause of hypertension tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:93618|UMLS:CN227685 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D001763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/219250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254632001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:698846009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017459 biolink:NamedThing obsolete central polydactyly of toes tmpaxzxjjyw_mondo_relaxed.owl central polydactyly of foot|mirror foot|mesoaxial polydactyly of toes SCTID:253967005|ICD10:Q69.2|Orphanet:295010 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/y_linked.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS609161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254051008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:0070121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4054897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77480004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:416893007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28143002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:po.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:210128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716336002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:439167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703294004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C14158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/202700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29352008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10035083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017122 biolink:NamedThing obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:269573|UMLS:CN202475 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class DOID:11406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4275252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60192008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/245800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29159009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/314550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:82725007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404140004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:85866007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56688005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65154009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C548083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205473008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/254700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D044905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3715049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/120435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10037458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10037635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:521414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50127006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN231743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:409562009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN074249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:275336002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93473009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238687000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45816000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0050880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C1970848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18273004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723454008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/154780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10047115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10056893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1384494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1691020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93163002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:418130002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92308005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:74 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/lipoma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:420259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724142005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS135500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:398109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/187800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0025518 biolink:NamedThing obsolete aspirin allergy A allergic disease involving a acetylsalicylic acid. tmpaxzxjjyw_mondo_relaxed.owl allergy of acetylsalicylic acid|acetylsalicylic acid allergic disease|acetylsalicylic acid allergy|ASA allergy MONDO:outOfScope SCTID:293586001|DOID:0040002 UMLS:C0004058|ICD9:995.27|IEDB:RV True https://github.com/monarch-initiative/mondo/issues/498 owl:Class SNOMEDCT:293586001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/237550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10004550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:31204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:123782009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3501891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721221000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018294 biolink:NamedThing obsolete congenital disorder of glycosylation with nephropathy as a major feature tmpaxzxjjyw_mondo_relaxed.owl CDG with nephropathy as a major feature MONDO:outOfScope Orphanet:371207 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class ORPHA:371207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:313795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020026 biolink:NamedThing obsolete rare female infertility Rare female infertility. tmpaxzxjjyw_mondo_relaxed.owl rare female infertility MONDO:0021124 Orphanet:98049|UMLS:CN227737 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:118618005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55711009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018410 biolink:NamedThing obsolete rare genetic female infertility tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021124 UMLS:CN227353|Orphanet:400008 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0110965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020149 biolink:NamedThing obsolete rare eye disease due to a differentiation anomaly tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:98558|UMLS:CN207024 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN207024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:423627007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/medgen/547314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10056450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30128009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720573009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS251290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60168000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0040964 biolink:NamedThing obsolete superimposed infection tmpaxzxjjyw_mondo_relaxed.owl suprainfection|superadded infection|superimposed infection UMLS:C0038826|SCTID:193198003 True owl:Class SNOMEDCT:193198003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN244941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10044019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0854915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019996 biolink:NamedThing obsolete rare cardiac disease Rare heart disease. tmpaxzxjjyw_mondo_relaxed.owl rare heart disease MONDO:0005267 Orphanet:97929|UMLS:CN206932 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:447737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN074265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:232039004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18899000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:211037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020092 biolink:NamedThing obsolete rare idiopathic male infertility tmpaxzxjjyw_mondo_relaxed.owl out of scope Orphanet:98345|ICD10:N46|UMLS:CN227777 MONDO:0005372 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35055000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN248514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3551954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10040641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008415 biolink:NamedThing obsolete Scholte syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010505 OMIM:181515 Replaced by https://omim.org/entry/300977 in OMIM True owl:Class https://omim.org/entry/181515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:40272001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764859001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:307601000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1290344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/152420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/177735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN244930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:subphylum biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/183800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:39194005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0409676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021668 biolink:NamedThing obsolete disorder involving pain tmpaxzxjjyw_mondo_relaxed.owl pain disorder out of scope MONDO:0700057 DOID:0060164|UMLS:C1300028|SCTID:373673007|MESH:D010146 True https://github.com/monarch-initiative/mondo/issues/3163 owl:Class SNOMEDCT:373673007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239832006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1824925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235760009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017261 biolink:NamedThing obsolete systemic diseases with panuveitis tmpaxzxjjyw_mondo_relaxed.owl out of scope Orphanet:280933|UMLS:CN202779 This is a grouping class that is considered out of scope. MONDO:0017255 True owl:Class UMLS:CN202779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS608583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:124668009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0266463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/269700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN073987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/148700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class https://omim.org/entry/143050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:544458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:127230005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo.owl biolink:NamedThing Mondo Disease Ontology A semi-automatically constructed ontology that merges in multiple disease resources to yield a coherent merged ontology. tmpaxzxjjyw_mondo_relaxed.owl Includes Ontology(OntologyID(Anonymous-51)) [Axioms: 71195 Logical Axioms: 0] 1.2 http://obofoundry.org/ontology/mondo.html http://creativecommons.org/licenses/by/4.0/ OBO:hp.owl|OBO:mf.owl|https://rarediseases.info.nih.gov/|http://www.orpha.net/ontology/orphanet.owl|OBO:chebi.owl|OBO:ncbitaxon.owl|OBO:ncit.owl|OBO:uberon.owl|OBO:envo.owl|https://id.nlm.nih.gov/mesh/|OBO:go.owl|OBO:doid.owl owl:Ontology MEDDRA:10038300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/520000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253038006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1829703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016228 biolink:NamedThing obsolete rare vascular tumor Any of the forms of vascular neoplasm that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare vascular neoplasm MONDO:0024296 Orphanet:211237 TODO revise after https://github.com/Orphanet/ORDO/issues/2 UMLS:C0282607 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0100027 biolink:NamedThing obsolete febrile seizures plus, genetic epilepsy with febrile seizures plus tmpaxzxjjyw_mondo_relaxed.owl out of scope MONDO:0018214 True owl:Class https://github.com/monarch-initiative/mondo/issues/3442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:538756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699331002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33647009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10019163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/refseq/NC_000020.11 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235875008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015882 biolink:NamedThing obsolete rare tumor of pancreas Any of the forms of pancreatic neoplasm that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare pancreatic tumor|rare pancreatic neoplasm|rare pancreas tumor|rare pancreas neoplasm MONDO:0021040 Orphanet:180824 MedDRA:10061902|UMLS:C0030297 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0017652 biolink:NamedThing obsolete rare disease with myoclonus as a major feature tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:306753|UMLS:CN203543 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/projects/6 owl:Class SNOMEDCT:238051008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717734005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/261550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015891 biolink:NamedThing obsolete hypogonadotropic hypogonadism associated with other endocrinopathies tmpaxzxjjyw_mondo_relaxed.owl Orphanet:181390 True owl:Class UMLS:C0268193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237933007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:310701003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/136120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1522378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722201004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:33543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:252018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020169 biolink:NamedThing obsolete rare disorder with ptosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:98578|UMLS:CN207031 MedDRA:10037272|UMLS:C0005745|MedDRA:10015995|UMLS:C0033377|MESH:D001763 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C565343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55056006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/276880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:99131000119108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0275758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0730285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Tomato biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MESH:C537717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/194070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237850008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/medgen/452941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718721006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020184 biolink:NamedThing obsolete rare eyebrow/eyelashes anomaly tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227808|Orphanet:98594 Editor note: does not align with anatomy HP:0000534|HP:0000499 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/1501 owl:Class ORPHA:98594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/180500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000793 biolink:NamedThing obsolete rainbow trout allergy A allergy involving a Oncorhynchus mykiss. tmpaxzxjjyw_mondo_relaxed.owl Oncorhynchus mykiss allergy|Oncorhynchus mykiss allergic disease|allergy of Oncorhynchus mykiss|Oncorhynchus mykiss caused allergic disease MONDO:outOfScope DOID:0060518 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10060971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0700644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018286 biolink:NamedThing obsolete non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature tmpaxzxjjyw_mondo_relaxed.owl non-X-linked CDG with intellectual disability as a major feature MONDO:outOfScope Orphanet:371064 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class ORPHA:371064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88518009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:32117000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015963 biolink:NamedThing obsolete inherited renal tumor tmpaxzxjjyw_mondo_relaxed.owl genetic renal tumor Orphanet:183595|UMLS:CN200562 True owl:Class UMLS:CN200562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707354003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:138059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3872848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS300818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS311200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722207000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87522002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254703005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49084001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#TraitNet biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty DOID:0111670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:158665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715239002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1841835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D065706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:21098003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/118330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C95406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276672007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92443005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:447292006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020621 biolink:NamedThing obsolete blood group--scianna system tmpaxzxjjyw_mondo_relaxed.owl Scianna Blood Group|BLOOD GROUP--SCIANNA SYSTEM|SC OMIM:111750 True owl:Class https://omim.org/entry/111750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/222400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128209004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:732264002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:85708001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/249650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044636 biolink:NamedThing obsolete rare hyperkinetic movement disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:494457 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C3888102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C155758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4317112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044969 biolink:NamedThing obsolete disease of membrane bound organelle tmpaxzxjjyw_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class ORPHA:369847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D045169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1394891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018412 biolink:NamedThing obsolete rare female infertility due to adrenal disorder of genetic origin tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:400018|UMLS:CN227355 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0015305 biolink:NamedThing obsolete rare endometriosis Rare endometriosis. tmpaxzxjjyw_mondo_relaxed.owl endometriosis outside pelvis|extrapelvic endometriosis|rare endometriosis|rare endometriosis (disease) MONDO:0005133 Orphanet:137820|UMLS:C0404545|SCTID:237117005 ICD10:N80.2|ICD10:N80.3|ICD10:N80.8|ICD10:N80.5|ICD10:N80.4|ICD10:N80.0|ICD10:N80.1|ICD10:N80.9|UMLS:C0014175|ICD10:N80.6 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:237117005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:279947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10045181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45198002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72776003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/121900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41527003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719271000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3502809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722379001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/227255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238012003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020201 biolink:NamedThing obsolete conjunctival telangiectasia tmpaxzxjjyw_mondo_relaxed.owl obsolete conjunctival telangiectasia (disease)|conjunctival telangiectasia obsolete conjunctival telangiectasia (disease) HP:0000524|MedDRA:10072143|UMLS:C0239105|Orphanet:98613 Obsolete in Orphanet MONDO:0006170 True owl:Class MEDDRA:10072143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:27317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C1695985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92582009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN244546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:66518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018730 biolink:NamedThing obsolete rare genetic venous malformation An instance of rare venous malformation that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic rare venous malformation MONDO:outOfScope UMLS:CN241790|Orphanet:459548 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:459548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399970005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0578661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016234 biolink:NamedThing obsolete rare arteriovenous malformation Rare arteriovenous malformation. tmpaxzxjjyw_mondo_relaxed.owl rare arteriovenous hemangioma/malformation|rare arteriovenous malformation MONDO:0001256 UMLS:CN226888|Orphanet:211266 ICD10:Q27.3|MedDRA:10003193|UMLS:C0334533|UMLS:C0003857|MESH:D001165 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:203392007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:235832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/232300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:23056005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/medgen/82812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79417003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:16687001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016406 biolink:NamedThing obsolete other metabolic disease with epilepsy tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:225713|UMLS:CN201333 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:C3554385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C28286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/158350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/115645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015510 biolink:NamedThing obsolete rare genetic respiratory disease Rare genetic respiratory system disease. tmpaxzxjjyw_mondo_relaxed.owl rare genetic respiratory system disease MONDO:0005087 Orphanet:156610|UMLS:CN199643 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:156610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724840004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/123560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:217670007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3888385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3542549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021062 biolink:NamedThing obsolete hereditary acrokeratotic poikiloderma of Kindler-Weary tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016382 UMLS:CN203514|Orphanet:306539 True owl:Class NCIT:C5414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719207000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65390006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19272000 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MESH:D009634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C542540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN252657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/122600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:158668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10004593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS259100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/274270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46635009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C37304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HP:0011357 biolink:NamedThing obsolete Abnormality of hair density tmpaxzxjjyw_mondo_relaxed.owl HP:0011362 peter 2012-03-01T02:51:40Z True human_phenotype owl:Class SNOMEDCT:236806004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010086 biolink:NamedThing obsolete sudden infant death syndrome Sudden infant death syndrome (SIDS) is the unexpected, sudden death of a child under age 1 which cannot be explained after a thorough investigation is conducted. Infants who are affected by the condition generally appear healthy with no suspicious signs and symptoms prior to the incident. It is the leading cause of death in infants age 1 to 12 months old. The exact underlying cause of SIDS is unknown; however, scientists suspect that it is likely a multifactorial condition (associated with the effects of multiple genes in combination with lifestyle and environmental factors). Although there is no guaranteed way to prevent SIDS, the American Academy of Pediatrics has a published list of recommendationsfor risk reduction. Please click on the link to access this resource. tmpaxzxjjyw_mondo_relaxed.owl sudden infant death syndrome NOS (context-dependent category)|SIDS|crib death|Crib death (context-dependent category)|cot death (context-dependent category)|cot death|sudden infant death syndrome (context-dependent category)|sudden infant death syndrome (finding)|sudden death of nonspecific cause in infancy|Sids|sudden infant death syndrome UMLS:C0038644|MedDRA:10042439|OMIM:272120|SCTID:51178009|ICD9:798.0|DOID:9007|ICD10:R95|EFO:0005303|GARD:0007711|NCIT:C85173|MESH:D013398 This is not really a disease, and it is really an outcome of a variety of potential reasons, some which could be genetic, or environmental or maybe entirely unknown. True https://github.com/monarch-initiative/mondo/issues/2759|https://rarediseases.info.nih.gov/diseases/7711/sudden-infant-death-syndrome owl:Class MEDDRA:10042439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3887525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/162100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:709412006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C548012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS206500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:281097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3273115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13617004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4540520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238935002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:208447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:269469005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254711000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/hemangioma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765047006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015107 biolink:NamedThing obsolete rare genetic eye disease A form of eye disease that is both rare and inborn. tmpaxzxjjyw_mondo_relaxed.owl rare genetic eye disease|rare genetic ophthalmologic disease MONDO:0005328 Orphanet:101435|UMLS:CN197465 TODO consider MESH:D015785 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class http://identifiers.org/refseq/NC_000011.10 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:445236007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:371067004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018405 biolink:NamedThing obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin An instance of rare male infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl rare male infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin|genetic rare male infertility due to hypothalamic-pituitary-gonadal axis disorder|rare male infertility due to gonadotropic axis disorder of genetic origin MONDO:outOfScope Orphanet:399983|UMLS:CN227350 ICD10:N46 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:399983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0266006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019997 biolink:NamedThing obsolete rare gastroenterologic disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000001 UMLS:CN206933|Orphanet:97935 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/insdc/CM000671.2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:69093006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:457088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234397008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:371015003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN873436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:494428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0686378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3164456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/112700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D062689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109998009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715365000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0235591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65520001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C166373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty OIO:SubsetProperty biolink:NamedThing subset_property tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:CN203262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/autosomal_dominant.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2919755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721816008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10024931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10047716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:279225001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4083048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702442008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402693001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/207000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0159006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/130600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1274377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0687140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/105805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234568006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:312898002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92624000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:56305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C133886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1274789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400080004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN159238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:711158005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0266878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75589004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:191255003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/229120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/155350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:202940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015886 biolink:NamedThing obsolete rare diabetes mellitus type 1 Any of the forms of type 1 diabetes mellitus that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare insulin-dependent diabetes mellitus|rare type 1 diabetes mellitus MONDO:0005147 Orphanet:181371 UMLS:C0011854 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C563421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016363 biolink:NamedThing obsolete rare hereditary hemochromatosis Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis) is not a rare disease. tmpaxzxjjyw_mondo_relaxed.owl iron overload disease|rare hereditary hemochromatosis MONDO:0006507 Orphanet:220489 NCIT:C84764|UMLS:C0018995|ICD9:275.01|ICD10:E83.1|Orphanet:139498|UMLS:C0282193 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:220489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4321324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:122377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0028743 biolink:NamedThing obsolete dysostosis with brachydactyly with extraskeletal manifestations tmpaxzxjjyw_mondo_relaxed.owl Orphanet:498454 True owl:Class ORPHA:180129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:85039006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726709001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/274240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717046003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:711483003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45650007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/310200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703406006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C89506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty NCIT:C6458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126733004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:447785000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:419237004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021199 biolink:NamedThing obsolete disease by anatomical system A disease that disrupts the functioning of an organ system. tmpaxzxjjyw_mondo_relaxed.owl disease of anatomical system|disorder of anatomical system|disease of anatomical entity|anatomical system disease out of scope DOID:7|SCTID:362965005|ICD9:796.4|UMLS:C1285159 This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class UMLS:C1285159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3541517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1520076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:424114000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237985009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1767005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/247990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:118946009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0235369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/154230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:424091006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/202550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84245004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/270805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:331226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/270550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:738527001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#ordo_clinical_situation biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl particular clinical situation in a disease or syndrome owl:AnnotationProperty SNOMEDCT:722434004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015894 biolink:NamedThing obsolete rare hyperthyroidism Any of the forms of hyperthyroidism that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare hyperthyroidism MONDO:0004425 Orphanet:181399 ICD10:E05.9|ICD10:E05.3|UMLS:C0020550|ICD10:E05.4|ICD10:E05.0|ICD10:E05.8|ICD10:E05.5|ICD10:E05.1|ICD10:E05.2 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/617113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C120046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C111885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/164000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:59306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10008791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C548077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020030 biolink:NamedThing obsolete rare genetic renal disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005240 Orphanet:98056|UMLS:CN206955 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/619303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0472777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277185000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:555402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0000889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1829003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:102014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:281241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363406005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:4760008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:4754008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:infraorder biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D060446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0043606 biolink:NamedThing obsolete pathologic fracture A traumatic break in an area of bone that has been weakened by another disease process. tmpaxzxjjyw_mondo_relaxed.owl pathologic fractures|fracture, spontaneous|fracture, pathologic|spontaneous fractures|pathological fracture|pathological fractures|fractures, pathologic|fracture, pathological|spontaneous fracture|pathologic fracture|fractures, pathological HP:0002756 SCTID:268029009|MESH:D005598|NCIT:C3047 This was obsoleted because it is a phenotype and not a disease. True https://github.com/monarch-initiative/mondo/issues/499 owl:Class NCIT:C3047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/170990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715559004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/206700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D040181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017458 biolink:NamedThing obsolete postaxial polydactyly of toes tmpaxzxjjyw_mondo_relaxed.owl postaxial polydactyly of foot GARD:0012770|Orphanet:295008|ICD10:Q69.2|SCTID:205133005 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/107480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/245450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65363002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10009269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:397973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47841006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1510437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015878 biolink:NamedThing obsolete rare disease with autism tmpaxzxjjyw_mondo_relaxed.owl Orphanet:180772|UMLS:CN200486 This is a grouping class that describes a phenotype that is associated with the disease. We added a subclassOf axiom to the children terms instead. True https://github.com/monarch-initiative/mondo/issues/1766|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1333499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10066261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10064212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238401006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS162000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:40149008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28599006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009245 biolink:NamedThing obsolete Friedreich ataxia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100339 True https://github.com/monarch-initiative/mondo/issues/2807 owl:Class IAO:0000229 biolink:NamedThing term split tmpaxzxjjyw_mondo_relaxed.owl This is to be used when a term has been split in two or more new terms. An editor note should indicate the reason for the split and indicate the URIs of the new terms created. term split IAO:0000225 https://omim.org/phenotypicSeries/PS188050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725290000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/idiopathic.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29212009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10038933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020190 biolink:NamedThing obsolete eyebrow/eyelashes distichiasis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98600 HP:0009743 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class DOID:0060359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10070597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C43586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56627002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/228400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717044000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS212720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/243185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75068001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61750000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:495844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020258 biolink:NamedThing obsolete oculomotor apraxia or related oculomotor disease tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207073|Orphanet:98688 HP:0000657 True https://github.com/monarch-initiative/mondo/issues/834 owl:Class IAO:0000423 biolink:NamedThing to be replaced with external ontology term Terms with this status should eventually replaced with a term from another ontology. tmpaxzxjjyw_mondo_relaxed.owl group:OBI to be replaced with external ontology term Alan Ruttenberg IAO:0000078 MESH:D009181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0235812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51387008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS153100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/246450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10010654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/disease_series_by_gene_and_inheritance.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236461000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0748616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1274743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234484005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:448794008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:267592003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109984001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:110310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class NCBITaxon:140878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0854488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10061344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:353253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718713000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0936248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10074583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:ecocore.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/134430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/177050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764457005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399889006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017665 biolink:NamedThing obsolete rare genetic disease with myoclonus as a major feature tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:307067|UMLS:CN203550 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/projects/6 owl:Class UMLS:CN203550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C148371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C66830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1970712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45030009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:387800004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0343633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239023005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126490003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:43226001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84625002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0266174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015917 biolink:NamedThing obsolete malignant glioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100342 Moved Orphanet equiv dbxref to parent class (glioma). Therefore obsoleted this term and created a new term that is not equiv to Orphanet:182067. True https://github.com/monarch-initiative/mondo/issues/2932 owl:Class ORPHA:199340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019546 biolink:NamedThing obsolete other acquired skin disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:90077|UMLS:CN206373 Editor note: consider merging. True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/252500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84494001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3642344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/249240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015117 biolink:NamedThing obsolete rare hepatic and biliary tract tumor Any of the forms of hepatobiliary neoplasm that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare hepatobiliary neoplasm MONDO:0002514 Orphanet:101943|UMLS:CN197474 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C538344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0242342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/229250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10036369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13285005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10011796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1968804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404059000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:269229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS160700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15241006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65617004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1709574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/275230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018501 biolink:NamedThing obsolete rare carcinoma of stomach Rare stomach carcinoma. tmpaxzxjjyw_mondo_relaxed.owl rare gastric carcinoma|rare stomach carcinoma MONDO:0004950 Orphanet:423771 UMLS:C0699791 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:423771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41565005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN229262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:408642003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38961000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/186570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020034 biolink:NamedThing obsolete rare respiratory tract neoplasm Any of the forms of respiratory tract neoplasm that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare respiratory neoplasm|rare respiratory tract neoplasm|rare respiratory cancer|rare respiratory tumor MONDO:0020641 Orphanet:98060|UMLS:CN206959 UMLS:C0154131|UMLS:C0035244 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:300857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111488004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2936880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/255110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45369008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764466009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/248500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:76682005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10020562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57119000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733049004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/192700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C41352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0546835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:186774005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0729842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN243982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:53974002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77090002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238694002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/136680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/239200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10047469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/245650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018080 biolink:NamedThing obsolete rare germ cell tumor Rare germ cell tumor. tmpaxzxjjyw_mondo_relaxed.owl rare germ cell tumor|germ cell tumor MONDO:0005040 SCTID:402878003|Orphanet:3399 Editor note: consider merging to parent UMLS:C0740345 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:402878003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D027601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS608567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:21857006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016636 biolink:NamedThing obsolete thrombotic disorder due to a constitutional platelet anomaly tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226986|Orphanet:248401 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:248401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42059000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:204368006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/246570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54122009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/272100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254462001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35520007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4311047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:457359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#merged_class biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl this class merges distinct concepts in other resources owl:AnnotationProperty ORPHA:3235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:396230008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C95071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:454836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C557820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702416008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C48458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/environmental_stimulus.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10027754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9491003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3276095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51952004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10056670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3805412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3714899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:268163008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0542564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:36273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:193428001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719299009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D065768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10059387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C162472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230482003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1265997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:409709004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10047822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236531005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400099008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699817008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:285311001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:387778001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:713306000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2748783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50442003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719825000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C66989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:312823001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0175695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/249270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:415297005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724171006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:76520005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188733003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:508093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018799 biolink:NamedThing obsolete rare hypercholesterolemia Rare hypercholesterolemia. tmpaxzxjjyw_mondo_relaxed.owl rare hypercholesterolemia MONDO:0000001 UMLS:CN776861|Orphanet:477811 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:477811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:32230006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255154009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/268300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015859 biolink:NamedThing obsolete rare non-malformative uterovaginal or vulvovaginal disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200461|Orphanet:180205 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN902090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D060545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2939465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205465004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/leiomyoma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83714006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D065708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C157781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4288403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/232220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/177850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/142330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60703000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS605552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718105008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3696376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/177700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/isolated.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/167750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000204 biolink:NamedThing obsolete skin creases, congenital symmetric circumferential tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:156610 True owl:Class https://omim.org/phenotypicSeries/PS156610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55355000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020015 biolink:NamedThing obsolete rare circulatory system disease A rare form of cardiovascular disease. tmpaxzxjjyw_mondo_relaxed.owl rare cardiovascular disease MONDO:0004995 Orphanet:98028|UMLS:CN206948 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:228247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78511005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715985008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008531 biolink:NamedThing obsolete T-complex locus TCP10B tmpaxzxjjyw_mondo_relaxed.owl TCP10B|T-complex locus TCP10B OMIM:187030 True owl:Class https://omim.org/entry/187030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:8829008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/129840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty NCIT:C6977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015946 biolink:NamedThing obsolete rare genetic epidermal disorder tmpaxzxjjyw_mondo_relaxed.owl genetic epidermal disorder MONDO:0000001 UMLS:CN200542|Orphanet:183426 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN200542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C152064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:240371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:447883002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class SNOMEDCT:13969006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/refseq/NC_000014.9 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3715156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703535000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D023981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724141003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/254100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:416769008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92208007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0269107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019300 biolink:NamedThing obsolete rare skin tumor or hamartoma tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205934|Orphanet:79386 True owl:Class UMLS:C4015513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:448270009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/congenital.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C41247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:8933000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2752027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:147101000119108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016252 biolink:NamedThing obsolete rare uterine cancer Rare uterine cancer. tmpaxzxjjyw_mondo_relaxed.owl rare uterine malignant tumor|rare cancer of uterus|rare uterine cancer|rare malignant tumor of uterus MONDO:0002715 Orphanet:213564 UMLS:C0153567 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:213564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C53556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/189500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:3527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:48113006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:328611000119105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93466004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404056007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:192727001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10039766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/248100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/142730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1291512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720976009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C156953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty DOID:1130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0410192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/116920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65545003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016274 biolink:NamedThing obsolete rare cancer of cervix uteri Rare cervical cancer. tmpaxzxjjyw_mondo_relaxed.owl rare cervical cancer|rare cervical malignant tumor|rare malignant tumor of cervix uteri MONDO:0002974 Orphanet:213761|UMLS:CN201063 UMLS:C0302592|UMLS:C0007847 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C131084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/211120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:414521009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003043 biolink:NamedThing obsolete extraskeletal mesenchymal chondrosarcoma A rare malignant tumor of soft tissue characterized by a bimorphic pattern composed of undifferentiated small round cells and islands of well differentiated hyaline cartilage. tmpaxzxjjyw_mondo_relaxed.owl mesenchymal extraskeletal chondrosarcoma|mesenchymal extraosseous chondrosarcoma DOID:4548|UMLS:C1275279|ICD9:171.9|SCTID:404080006|NCIT:C27481 Obsolete in NCIT. MONDO:0012825 True https://github.com/monarch-initiative/mondo/issues/388 owl:Class UMLS:C1275279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66651005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400948003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/312750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363466008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:394659003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:231857004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:204878001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4511959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10003074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126670003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0023663 biolink:NamedThing obsolete macrocephaly mesodermal hamartoma spectrum tmpaxzxjjyw_mondo_relaxed.owl Elattoproteus syndrome|partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly|hemihypertrophy and macrocephaly|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly MONDO:0008318 UMLS:C1867610|GARD:0000170|OMIM:176920|MESH:C537716 Editor note: consider merging, see discussion of Elattoproteus syndrome on https://omim.org/entry/176920 True https://rarediseases.info.nih.gov/diseases/170/macrocephaly-mesodermal-hamartoma-spectrum owl:Class https://omim.org/entry/614608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:201192006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:342553006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1707437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:34145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/113610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237960000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:NCBITaxon#_species_group biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72274001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:454700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#speculative biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl A hypothesized disease whose existence is speculative owl:AnnotationProperty UMLS:CN200093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/270500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84598000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230311004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:362965005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13555004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:39898005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763403007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1776003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/191520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C90259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty DOID:1271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:116020001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:44169009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS208000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:71273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4048196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:449566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C161005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C175582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/syndromic.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2004487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:425500002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721007005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:82800008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/123790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:11161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MESH:C536864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C82343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:494421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234433009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D055501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000795 biolink:NamedThing obsolete penicillin allergy An allergy to Penicillin. tmpaxzxjjyw_mondo_relaxed.owl allergy of penicillin|penicillin allergic disease MONDO:outOfScope SCTID:91936005|UMLS:C0030824|DOID:0060520|ICD9:V14.0|NCIT:C34911 ICD9:995.27 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class SNOMEDCT:91936005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59818004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS252270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0343312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C71720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27174002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0205710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015893 biolink:NamedThing obsolete rare hypothyroidism Any of the forms of hypothyroidism that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare hypothyroidism MONDO:0005420 Orphanet:181396 UMLS:C0020676 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0018792 biolink:NamedThing obsolete Moyamoya syndrome tmpaxzxjjyw_mondo_relaxed.owl rare disorder with a Moyamoya angiopathy Orphanet:477771|UMLS:CN776904 Redundant with moyamoya disease, and the children were incorrectly classified as moyamoya syndrome, as they only had features of moyamoya angiopathy. MONDO:0016820 True https://github.com/monarch-initiative/mondo/issues/1767 owl:Class DOID:1091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/248390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/185610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/239710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:4416007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:220393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C120144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719456001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010330 biolink:NamedThing obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss. tmpaxzxjjyw_mondo_relaxed.owl retinitis pigmentosa, X-linked, and SINORESPIRATORY infections, with or without deafness out of scope OMIM:300455|UMLS:C2749137|Orphanet:247522|MESH:C567595 Reason: out of scope. Requested by ClinGen retinal experts to obsolete this term. True https://github.com/monarch-initiative/mondo/issues/3898 owl:Class https://omim.org/entry/300455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS109730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:3298001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0009774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721878003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015949 biolink:NamedThing obsolete rare genetic subcutaneous tissue disorder tmpaxzxjjyw_mondo_relaxed.owl genetic subcutaneous tissue disorder MONDO:0000001 Orphanet:183484|UMLS:CN200546 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/phenotypicSeries/PS608638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717041008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93470007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/137100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:103910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:414824005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C132105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235888006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724070005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255109008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764630003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/melanoma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D062625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715420005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002176 biolink:NamedThing obsolete connective tissue cancer A malignant neoplasm involving the connective tissue tmpaxzxjjyw_mondo_relaxed.owl malignant connective tissue neoplasm|neoplasm of connective tissues|cancer of connective tissue|connective tissue cancer|connective tissue neoplasm|malignant neoplasm of connective tissue SCTID:126598008|UMLS:C0027656|DOID:201|MESH:D009372 Reason: grouping class. MONDO:0003900 True https://github.com/monarch-initiative/mondo/issues/3593 owl:Class NCIT:C113484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:275259005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/308960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class NCIT:C39291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10007270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C580083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/229200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237734007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/155950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:16632002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001253 biolink:NamedThing obsolete solar retinopathy tmpaxzxjjyw_mondo_relaxed.owl solar retinitis UMLS:C0152131|SCTID:1135000|ICD10:H31.02|ICD9:363.31|DOID:11282 True owl:Class DOID:11282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78468005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002264 biolink:NamedThing obsolete atrophy of prostate tmpaxzxjjyw_mondo_relaxed.owl prostate atrophy|atrophic prostate|atrophy of prostate ICD10:N42.2|SCTID:29524003|UMLS:C0156296|DOID:2301|ICD9:602.2 This is not a true disease, more of a phenotype or process. True https://github.com/monarch-initiative/mondo/issues/2312 owl:Class SNOMEDCT:29524003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10001935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:232049001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020222 biolink:NamedThing obsolete rare disease with glaucoma as a major feature tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:98638|UMLS:CN207054 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/projects/6 owl:Class ORPHA:440427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS226400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016507 biolink:NamedThing obsolete rare surgically correctable form of primary aldosteronism Surgically correctable forms of primary aldosteronism (also known as primary hyperaldosteronism) are characterized by unilateral aldosterone hypersecretion and renin suppression, associated with varying degrees of hypertension and hypokalemia. tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:231637|UMLS:CN226946 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN226946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:183342005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C132827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/227280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:414545008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0343068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:252021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188664008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:457485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C104813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:710008008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10072106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10020871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:225154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:386033004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38795005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720513002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723821002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:263225007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class SNOMEDCT:30911005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703531009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38362002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0033117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10051714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:198057005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720746006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55925001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:90678009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/222690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:27 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/169545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702364003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044230 biolink:NamedThing obsolete epiblepharon of upper 51d tmpaxzxjjyw_mondo_relaxed.owl epiblepharon of upper lid OMIM:131460 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/131460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93143009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS145260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715901002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/181400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001589 biolink:NamedThing obsolete vaginal enterocele tmpaxzxjjyw_mondo_relaxed.owl vaginal hernia|enterocele ICD10:K46|ICD9:618.6|SCTID:398061002|ICD10:N81.5|DOID:1283 Represents finding. HP:0100672 True https://github.com/monarch-initiative/mondo/issues/1777 owl:Class DOID:1283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:386584007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0410538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:33364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:71253000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1959582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:505208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010254 biolink:NamedThing obsolete hematopoietic stem cell kinetics, control of tmpaxzxjjyw_mondo_relaxed.owl hematopoietic stem cell kinetics, control of OMIM:300129 True owl:Class https://omim.org/entry/300129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722059002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3806737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363401000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016329 biolink:NamedThing obsolete familial syndrome associated with hypertrophic cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl out of scope MONDO:0005045 True owl:Class NCIT:C3095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10072376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:418134006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:478049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363422006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715565004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:39465007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38481006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33882007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62660000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4275152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C150251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/191000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:412035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN438428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95315005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10070440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/254450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726722009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:192655005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:34250006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41308008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0016064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54304004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0021070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70410008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/210900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205358006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/167300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19829001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/163600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2089002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN029323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:61172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C1841853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100106 biolink:NamedThing obsolete neonatal epileptic encephalopathy A form of age-related epileptic encephalopathy, characterized by the onset of seizures within the first 4 weeks of life that can be generalized or lateralized, independent of the sleep cycle, and that can result in frequent seizures per day, leading to psychomotor impairment and death. tmpaxzxjjyw_mondo_relaxed.owl out of scope Reason: out of scope. Recommended for obsoletion by the ClinGen Epilepsy GCEP. Term to consdier: MONDO:0100455 Neonatal-onset developmental and epileptic encephalopathy. MONDO:0100455 http://orcid.org/0000-0001-5208-3432 True owl:Class https://github.com/monarch-initiative/mondo/issues/4057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717329009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4275075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000779 biolink:NamedThing obsolete apple allergy A allergy involving a Malus domestica. tmpaxzxjjyw_mondo_relaxed.owl Malus domestica fruit allergy|allergy of Malus domestica|Malus domestica caused allergic disease|Malus domestica allergic disease MONDO:outOfScope DOID:0060504 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75968004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019045 biolink:NamedThing obsolete rare sleep disorder A rare form of sleep disorder. tmpaxzxjjyw_mondo_relaxed.owl rare sleep wake disorder|rare sleep-wake disorder|rare sleep disorder MONDO:0003406 Orphanet:68354 MESH:D012893|UMLS:C0851578|MedDRA:10040984 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:68354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3539506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92126004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:ncit#oncotree_slim biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:405287008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59282003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3808899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10029773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/247430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4050314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:1979160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:CN204205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715980003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70461003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:118934005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015960 biolink:NamedThing obsolete rare genetic developmental defect during embryogenesis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021147 Orphanet:183530|UMLS:CN226804 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:183530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/237450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3541853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:67801009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:293864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020000 biolink:NamedThing obsolete rare respiratory disease Rare respiratory system disease. tmpaxzxjjyw_mondo_relaxed.owl rare respiratory system disease MONDO:0005087 Orphanet:97955|UMLS:CN206934 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C142172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017001 biolink:NamedThing obsolete X chromosome number anomaly with male phenotype tmpaxzxjjyw_mondo_relaxed.owl Orphanet:263720 True owl:Class SNOMEDCT:29538005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019041 biolink:NamedThing obsolete rare genetic inherited tumor tmpaxzxjjyw_mondo_relaxed.owl rare genetic tumor MONDO:0005070 Orphanet:68336|UMLS:CN205525 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:11608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MESH:D003141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/304790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:711162004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C575534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128116006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:247854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/130710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN072190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230782004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10056953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:407476002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10019350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl IAO:0000122 biolink:NamedThing ready for release Class has undergone final review, is ready for use, and will be included in the next release. Any class lacking "ready_for_release" should be considered likely to change place in hierarchy, have its definition refined, or be obsoleted in the next release. Those classes deemed "ready_for_release" will also derived from a chain of ancestor classes that are also "ready_for_release." tmpaxzxjjyw_mondo_relaxed.owl ready for release owl:NamedIndividual SNOMEDCT:76880004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1831619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720466001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721712002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:522037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10047216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0877015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3273116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5050001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C170436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3897034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/274900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/232240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10053712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234628004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0009694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003161 biolink:NamedThing obsolete benign ependymoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016698 True owl:Class UMLS:C0039614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:agro.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128127008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:58437007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62335009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/243605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/616941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/160700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0282492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:12818004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:subcohort biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS602014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:442582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/187501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C65203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:589522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS193900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68574006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:44423001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ECTO:9000266 biolink:NamedThing obsolete chemical entity exposure tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:9310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:177901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703534001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10055579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:281210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764623009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/114030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31097004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:31824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:435623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0151514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:590539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:58208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/136400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10003685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0311220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/refseq/NC_000004.12 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009995 biolink:NamedThing obsolete rheumatic fever-related antigen tmpaxzxjjyw_mondo_relaxed.owl rheumatic fever, acute, susceptibility to|rheumatic fever-related antigen OMIM:268240 MONDO:0017767 True owl:Class https://omim.org/entry/268240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13048006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011329 biolink:NamedThing obsolete cerebral palsy, spastic quadriplegic, 1 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0033613 True https://github.com/monarch-initiative/mondo/issues/3807 owl:Class NCIT:C77526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/602484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020251 biolink:NamedThing obsolete rare strabismus and restriction syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN207070|Orphanet:98681 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126719004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C0040584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:252031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:583595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4317154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:445018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75053002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:CN236719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10052802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31712002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3808975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN236628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720855003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733608000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:500163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:45448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:20018005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C60641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89655007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C557827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29227009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044223 biolink:NamedThing obsolete radin blood group antigen tmpaxzxjjyw_mondo_relaxed.owl blood Group--Radin antigen|RD|RADIN blood group antigen OMIM:111620 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/111620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0457179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10011386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class SNOMEDCT:15033003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88348008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN229268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722493007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65539006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10064170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/275595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C548081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017671 biolink:NamedThing obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature MONDO:outOfScope UMLS:CN203557|Orphanet:307804 ICD10:Q82.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class DOID:11165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1563751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:459526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/147430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763713000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404082003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0023807 biolink:NamedThing obsolete midphalangeal hair tmpaxzxjjyw_mondo_relaxed.owl midphalangeal hair|Middigital hair GARD:0009992|MESH:C537471|OMIM:157200 True owl:Class OBO:mondo#not_a_disease biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl classes that do not represent diseases owl:AnnotationProperty ORPHA:1125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:576379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015899 biolink:NamedThing obsolete rare primary hyperaldosteronism Any of the forms of primary aldosteronism that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare primary aldosteronism|rare Conn's syndrome|rare Conn syndrome MONDO:0001422 Orphanet:181415 ICD10:E26.0|UMLS:C1384514 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C26878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:459033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:pato.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10043670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70528007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233954004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:cl#BDS_subset biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:42343007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020029 biolink:NamedThing obsolete rare genetic cardiac disease Rare genetic heart disease. tmpaxzxjjyw_mondo_relaxed.owl rare genetic heart disease MONDO:0005267 UMLS:CN206954|Orphanet:98054 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763209008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/208910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS273750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C130991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/150500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:435387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:297257004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:412022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:424013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/303800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1263903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D055652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/227300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017133 biolink:NamedThing obsolete genetic systemic or rheumatologic disease tmpaxzxjjyw_mondo_relaxed.owl out of scope MONDO:0000001 True owl:Class ORPHA:488594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765138001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10056292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:397012002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764697003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014709 biolink:NamedThing obsolete Heimler syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder 4C|Heimler syndrome type 2|HMLR2|Heimler syndrome 2|HEIMLER syndrome 2 out of scope OMIM:616617|DOID:0080624|UMLS:C4225267 MONDO:0100263 True https://github.com/monarch-initiative/mondo/issues/3222 owl:Class UMLS:C4225267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:266238009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0157691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54209007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205306000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254229006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020315 biolink:NamedThing obsolete unclassified myelodysplastic syndrome Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS) with atypical features of uncertain clinical significance. tmpaxzxjjyw_mondo_relaxed.owl out of scope ICD10:D46.7|UMLS:CN207136|Orphanet:98827 MONDO:0019453 True owl:Class SNOMEDCT:707530009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0851886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:410038006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238905009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/260540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/158345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4050407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277507004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/136880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:53926002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C580017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764622004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:443287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:198353000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:440727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399314004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/304020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0235880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:250989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:117573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:cohort biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10042778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018505 biolink:NamedThing obsolete rare tumor of small intestine Any of the forms of small intestine neoplasm that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare small intestine neoplasm|rare tumor of small bowel MONDO:0004251 UMLS:CN237510|Orphanet:423793 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/190685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764696007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:464343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:371861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/227050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14689000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1456240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS239300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN924922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/156400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:34486009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1654001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403805009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56905009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#DUBIOUS biolink:NamedThing dubious synonym tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty OIO:SynonymTypeProperty biolink:NamedThing synonym_type_property tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty NCIT:C7125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:196609006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:709044004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721207002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190794006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015506 biolink:NamedThing obsolete rare syndrome with cardiac malformations tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:156532|UMLS:CN199638 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C4310693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024646 biolink:NamedThing obsolete refractory tmpaxzxjjyw_mondo_relaxed.owl HP:0031375 UMLS:C1514815|NCIT:C39752 True owl:Class NCIT:C39752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402561003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/168885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#AMBIGUOUS biolink:NamedThing ambiguous tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C535990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1327919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45534005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2168304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3489725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:82649003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10053687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018497 biolink:NamedThing obsolete rare autonomic nervous system disorder Rare autonomic nervous system disease. tmpaxzxjjyw_mondo_relaxed.owl rare autonomic nervous system disease MONDO:0001292 Orphanet:423662 UMLS:C1145628 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:423662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10072361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49526009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:91953003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10061982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN074232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015984 biolink:NamedThing obsolete rare genetic immune disease Rare genetic immune system disease. tmpaxzxjjyw_mondo_relaxed.owl rare genetic immune system disease MONDO:0005046 UMLS:CN200582|Orphanet:183770 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN237515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238762002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78267003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019658 biolink:NamedThing obsolete sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93222|ICD10:N04.3|UMLS:CN206531 Obsolete in Orphanet MONDO:0019006 True owl:Class UMLS:CN206531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C130982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:480476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/302802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/115400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1086871000119109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716863007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65974003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009753 biolink:NamedThing obsolete neurovisceral storage disease with Curvilinear bodies tmpaxzxjjyw_mondo_relaxed.owl neurovisceral storage disease with Curvilinear bodies MESH:C564944|OMIM:257000|UMLS:C1850382 True https://github.com/monarch-initiative/hpo-annotation-data/issues/260 owl:Class UMLS:C1850382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/118350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722439009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363677007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1292778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0205851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:155899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C43594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/153600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230499002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/275630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:296 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/152300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254055004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10010456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1876203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:86103006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763774001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015184 biolink:NamedThing obsolete rare disease involving intestinal motility tmpaxzxjjyw_mondo_relaxed.owl rare genetic intestinal motility disease MONDO:0021189 Orphanet:104009|UMLS:CN226620 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65778007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/106240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/159500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707341005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:73230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68779003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721148005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254661000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/314400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015966 biolink:NamedThing obsolete hereditary eye tumor tmpaxzxjjyw_mondo_relaxed.owl genetic eye tumor UMLS:CN200566|Orphanet:183619 True owl:Class MESH:C566687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188147009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:69665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/213002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:252175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:94066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766246000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017644 biolink:NamedThing obsolete rare tremor disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005395 UMLS:CN227168|Orphanet:306712 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:306712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719377004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0205833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:580940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190919008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/151800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:82053000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS222470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018722 biolink:NamedThing obsolete primary lymphedema with associated anomalies tmpaxzxjjyw_mondo_relaxed.owl Orphanet:458841 True owl:Class NCIT:C2889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C37930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C82431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81903006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10056959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50620007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:198315005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/213600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:398250003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42432003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:569164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254901000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1955861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0340305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:432261003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007494 biolink:NamedThing obsolete episodic kinesigenic dyskinesia 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100352 True https://github.com/monarch-initiative/mondo/issues/2936 owl:Class MONDO:0015615 biolink:NamedThing obsolete rare genetic gastroenterological disease tmpaxzxjjyw_mondo_relaxed.owl rare genetic gastrointestinal system disease MONDO:0004335 UMLS:CN199991|Orphanet:165652 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718769009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/182601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254215005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:496689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:266474003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254795008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0392784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016254 biolink:NamedThing obsolete rare variants of adenocarcinoma of the corpus uteri tmpaxzxjjyw_mondo_relaxed.owl out of scope UMLS:CN201043|Orphanet:213574|ICD10:C54.1 MONDO:0003629 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C4015141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:409658007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C87167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92211008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C66757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/182882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92132009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020272 biolink:NamedThing obsolete connective tissue disease with eye involvement tmpaxzxjjyw_mondo_relaxed.owl out of scope MONDO:0003900 True owl:Class https://github.com/monarch-initiative/mondo/issues/3594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/309610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/553000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS184255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2956 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/262890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717633007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:440437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716239006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1482004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722117000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733046006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044281 biolink:NamedThing obsolete c3hex, ability to smell Cis-3-hexen-1-ol (C3HEX) is present in a wide range of foods and beverages, including wine and spirits, olive oil, vegetables, fruit, and green tea. C3HEX is commonly associated with sensory characteristics such as 'green' and 'grassy.' The probability of an individual's ability to detect C3HEX at a particular intensity (the R-index) can be estimated, and the threshold for detection is normally distributed (summary by {1:Jaeger et al., 2010}). tmpaxzxjjyw_mondo_relaxed.owl C3HEX, ability to smell OMIM:615082 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/615082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:410055005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015957 biolink:NamedThing obsolete rare genetic movement disorder Rare genetic movement disorder. tmpaxzxjjyw_mondo_relaxed.owl rare genetic movement disorder MONDO:0005395 Orphanet:183521|UMLS:CN226803 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:183521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92439006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:82473003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720637005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111508004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:221054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36454001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:46607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MEDDRA:10015549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55551005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0009768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C60709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1707525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019299 biolink:NamedThing obsolete unclassified genetic skin disorder tmpaxzxjjyw_mondo_relaxed.owl out of scope Orphanet:79385|UMLS:CN205933 MONDO:0005093 True owl:Class UMLS:CN205933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:51577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/121050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55912009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723582004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:330021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10051919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703539006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0392060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020626 biolink:NamedThing obsolete yt blood group antigen tmpaxzxjjyw_mondo_relaxed.owl Cartwright Antigen|YT BLOOD GROUP ANTIGEN OMIM:112100 True owl:Class https://omim.org/entry/112100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404663008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716199000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763535005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3840076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18620009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:225681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/308350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019097 biolink:NamedThing obsolete hemorrhagic disorder due to a constitutional platelet anomaly A hemorrhagic disorder due to a platelet anomaly which occurs from birth. tmpaxzxjjyw_mondo_relaxed.owl rare coagulopathy due to a constitutional platelet anomaly|rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare bleeding disorder due to a constitutional platelet anomaly|rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia|rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia|rare hemorrhagic disorder due to a constitutional platelet anomaly MONDO:outOfScope Orphanet:71202|UMLS:CN227572 ICD10:D69.1 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0040583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126836001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000857 biolink:NamedThing obsolete Charcot-Marie-Tooth disease type 7 A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. tmpaxzxjjyw_mondo_relaxed.owl DOID:0080069 True owl:Class DOID:0080069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:8098009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17585008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111489007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:536391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015616 biolink:NamedThing obsolete rare genetic intestinal disease tmpaxzxjjyw_mondo_relaxed.owl genetic intestinal disease MONDO:0005020 Orphanet:165655|UMLS:CN199992 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:448709005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN603947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/257500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/177990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0431121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719451006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:4434006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:181441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276202003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10026130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/227000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:416633008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:372103002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47481007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:36234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2829267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:subspecies biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:76175005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:439960005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C79698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0015758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MESH:D003218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/224750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/255600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1370723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015106 biolink:NamedThing obsolete rare urogenital disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000001 UMLS:CN197464|Orphanet:101433 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/607596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:30925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009654 biolink:NamedThing obsolete mucopolysaccharidoses, unclassified types tmpaxzxjjyw_mondo_relaxed.owl mucopolysaccharidoses, unclassified types out of scope OMIM:252700|MESH:C562442|UMLS:C0220752 MONDO:0019249 True owl:Class MESH:C562442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400096001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715487005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/245552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN069134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716871006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/240000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0008434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:1501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/120330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50927007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724072002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/308800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100229 biolink:NamedThing obsolete Heimler syndrome A peroxisoome biogenesis disorder characterised by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, nail abnormalities and occasional or late-onset retinal pigmentation abnormalities, in which the cause of the disease is a mutation in peroxisomal biogenesis factor 1 (PEX1) or peroxisomal biogenesis factor 6 (PEX6) genes. tmpaxzxjjyw_mondo_relaxed.owl deafness enamel hypoplasia nail defects|deafness-enamel hypoplasia-nail defects syndrome|sensorineural hearing loss, enamel hypoplasia, and nail abnormalities|Heimler syndrome|bilateral sensorineural hearing loss, enamel hypoplasia and nail defects out of scope OMIM:616617|OMIM:234580|SCTID:721085000|GARD:0001687|MESH:C535994|UMLS:C1856186|Orphanet:3220 MONDO:0100259 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/3222 owl:Class MESH:C535994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/226700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73297009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0001012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0021255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C1851443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:86081009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019291 biolink:NamedThing obsolete rare genetic dermis disorder tmpaxzxjjyw_mondo_relaxed.owl dermis disorder MONDO:0021154 UMLS:CN227615|Orphanet:79377 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/phenotypicSeries/PS309530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707310009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/244200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:63235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MESH:C536211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:193839007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN371052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707742001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:8635005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C25416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240447002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733115009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:371047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111420009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61860000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/263750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36689008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3277076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1282947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764791008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:16 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:94146005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:427685000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:192014006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/217520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1565489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/147530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363452003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38804009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30288003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/303350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718228001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2202743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/304110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237959005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19905009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C124838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/209010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:10679007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51771007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:404463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:33226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/260800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C72074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10053884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1708778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/172290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015937 biolink:NamedThing obsolete rare inflammatory eye disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:182214|UMLS:CN200527 UMLS:C0014236 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404171008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018539 biolink:NamedThing obsolete rare epithelial tumor of small intestine tmpaxzxjjyw_mondo_relaxed.owl rare epithelial tumor of small bowel MONDO:outOfScope UMLS:CN237541|Orphanet:425368 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C3809005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719452004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1299240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015876 biolink:NamedThing obsolete rare vulvovaginal tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200482|Orphanet:180312 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1859082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015939 biolink:NamedThing obsolete systemic autoimmune disease An autoimmune form of systemic disease. tmpaxzxjjyw_mondo_relaxed.owl autoimmune systemic disease out of scope UMLS:CN200529|Orphanet:182228 This is a grouping class that is considered out of scope. MONDO:0007179 True owl:Class UMLS:C0268160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:210571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27718001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2987239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720499004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D062688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016347 biolink:NamedThing obsolete rare cardiac rhythm disease A rare form of cardiac rhythm disease. tmpaxzxjjyw_mondo_relaxed.owl rare cardiac rhythm disease MONDO:0007263 Orphanet:218436|UMLS:CN201185 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:86854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:59305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020227 biolink:NamedThing obsolete systemic disease with cataract tmpaxzxjjyw_mondo_relaxed.owl out of scope UMLS:C0339369|Orphanet:98643 This is a grouping class that is considered out of scope. MONDO:0005129 True owl:Class UMLS:C0339369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10002703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27544004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:464453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/302950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1517842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4511089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018411 biolink:NamedThing obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin An instance of rare female infertility due to hypothalamic-pituitary-gonadal axis disorder that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl rare female infertility due to hypothalamic-pituitary-testicular axis disorder of genetic origin|rare female infertility due to gonadotropic axis disorder of genetic origin|genetic rare female infertility due to hypothalamic-pituitary-gonadal axis disorder MONDO:outOfScope UMLS:CN227354|Orphanet:400011 ICD10:N97.0 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1839670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/102590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:82642007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46775006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0376407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11389007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277791008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73363000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41069008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:732926009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81577001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1304300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2772003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1721016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class SNOMEDCT:193411004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:448045004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:195889001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class SNOMEDCT:254836000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722213009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230318005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:89936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000747 biolink:NamedThing obsolete umbilical hernia A congenital defect in the muscles of the abdominal wall that results in the intestines and other abdominal organs developing outside the abdominal wall covered in a sac. tmpaxzxjjyw_mondo_relaxed.owl MESH:D006554|ICD9:756.72|UMLS:C0019322|NCIT:C118375|DOID:0060321|ICD10:Q79.2|SCTID:396347007|HP:0001537|ICD9:553.1 Represents finding. HP:0001537 True https://github.com/monarch-initiative/mondo/issues/1777 owl:Class DOID:0060321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/265400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C53972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:44666001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3267187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:488618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/215450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001012 biolink:NamedThing obsolete breast fibroadenosis tmpaxzxjjyw_mondo_relaxed.owl fibroadenosis of breast|fibroadenosis - breast DOID:10352|ICD9:610.2|ICD10:N60.2|SCTID:23260002|UMLS:C1305875 Obsoleting because this is a phenotype. HP:0010619 True https://github.com/monarch-initiative/mondo/issues/429 owl:Class UMLS:C1305875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:497906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4540141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/158040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1291490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0850572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C548084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:398117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:425231005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10033940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5158005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/264500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:241954008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/265850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C112183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:424039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/125350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020612 biolink:NamedThing obsolete blood group, kidd system tmpaxzxjjyw_mondo_relaxed.owl JK|Kidd Blood Group System|BLOOD GROUP, KIDD SYSTEM OMIM:111000 True owl:Class https://omim.org/entry/111000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717224002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:24614000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0275933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016508 biolink:NamedThing obsolete rare non surgically correctable form of primary aldosteronism tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226947|Orphanet:231641 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C34999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2936793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D052536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/167870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61665008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:28 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/161800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52564001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:732252005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0400978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:420699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1302995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS275200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49949003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92056006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020616 biolink:NamedThing obsolete blood group, mn tmpaxzxjjyw_mondo_relaxed.owl Mn Blood Group|Blood Group, Mnss System|Mnss Blood Group System|Mns Blood Group Systed|MN|BLOOD GROUP, MN OMIM:111300 True owl:Class https://omim.org/entry/111300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/273400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56454009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:193549003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/149300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15069006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4539927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C112181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017308 biolink:NamedThing obsolete Marfan syndrome type 2 Hypothesized form of Marfan; dubious tmpaxzxjjyw_mondo_relaxed.owl MFS2|Marfan syndrome type II MONDO:0012427 MESH:C535911|UMLS:C2698016|UMLS:C2931058|OMIM:610168|NCIT:C75007|Orphanet:284973|ICD10:Q87.4 True owl:Class MESH:C535911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402567004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3275446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:6124009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0700367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10018381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703537008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766928004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230594005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18116006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92169007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763213001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#EXCLUDE biolink:NamedThing Synonym to be removed from public release but maintained in edit version as record of external usage tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0343047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C79705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/222300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:431149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/202400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92470003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020104 biolink:NamedThing obsolete rare constitutional hemolytic anemia due to an enzyme disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN227782|Orphanet:98369 Editor note: consider merging with parent ICD10:D55.8|ICD10:D55.3|ICD10:D55.1|ICD10:D55.2|ICD10:D55.9|ICD10:D55.0 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:0070198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724226009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2674705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10066254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:203928008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:34298002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725027004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1709570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/203400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:442416002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/254940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0392525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/260000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3888001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl FOODON:03412846 biolink:NamedThing obsolete: bacteria tmpaxzxjjyw_mondo_relaxed.owl True http://langual.org owl:Class NCIT:C27536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1285174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1456400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/184260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/118700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10035109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:43152001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1706832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254766004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723461007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C579932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65194006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN865669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/251230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1370889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1514912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:768843007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28724005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78745000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1709578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35600002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005128 biolink:NamedThing obsolete sensory system disease A disease involving the sensory system. tmpaxzxjjyw_mondo_relaxed.owl sensory system disease or disorder|sensory system disease|disease of sensory system|disease or disorder of sensory system|sensory disease|disorder of sensory system DOID:0050155|EFO:0001058 True https://github.com/monarch-initiative/mondo/issues/823 owl:Class DOID:0050155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1744708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:69082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN229293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733072002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018455 biolink:NamedThing obsolete dysostosis of genetic origin with limb anomaly as a major feature tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:404571 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class MONDO:0008331 biolink:NamedThing obsolete pseudopapilledema Apparent optic disc swelling in the absence of increased intracranial pressure. tmpaxzxjjyw_mondo_relaxed.owl crowded optic disc|pseudopapilledema|obsolete pseudopapilledema (disease) obsolete pseudopapilledema (disease) Orphanet:519339|DOID:1392|SCTID:57138009|MESH:C562401|OMIM:177800|UMLS:C0155300|ICD9:377.24 This is a phenotypic feature and belongs in HPO. HP:0000538 True https://github.com/monarch-initiative/mondo/issues/381 owl:Class ORPHA:519339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:232035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2749137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/142630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10027107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C117273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0431111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1517128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:21984008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:312428002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C112199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1561855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/200450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/183850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:58558003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254976006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:211237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:69080001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68771000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253194008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4282208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:3723001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006728 biolink:NamedThing obsolete discitis Inflammation of an intervertebral disc or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others. tmpaxzxjjyw_mondo_relaxed.owl intervertebral disk inflammation|inflammation of intervertebral disk out of scope DOID:10986|ICD9:722.90|ICD10:M46.4|MESH:D015299|UMLS:C0012624|SCTID:2304001|EFO:1000900 This is a phenotype and not a disease. MONDO:800000 True owl:Class UMLS:C0012624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0700595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10055019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10037149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763405000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0474847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:80623000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:48162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:32914008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/136000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4012597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73013002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30041005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/169400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020202 biolink:NamedThing obsolete conjunctival lymphangiectasia tmpaxzxjjyw_mondo_relaxed.owl ICD9:372.89|Orphanet:98614|UMLS:C0339186|SCTID:231871007 Obsolete in Orphanet MONDO:0006170 True owl:Class SNOMEDCT:231871007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402417009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402792003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2748502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/218350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765091006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C132196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/500013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/106070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702617007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3276432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1512224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:195042002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005251 biolink:NamedThing obsolete pauciarticular juvenile rheumatoid arthritis A type of juvenile idiopathic arthritis affecting which is a form of arthritis which affect children. tmpaxzxjjyw_mondo_relaxed.owl SCTID:74391003|ICD9:714.32|ICD10:M08.4|EFO:0003114 True owl:Class SNOMEDCT:74391003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/425500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/309541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/273050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/129810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0677936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17818006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:53772007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013647 biolink:NamedThing obsolete primary microcephaly-epilepsy-permanent neonatal diabetes syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0031481 True https://github.com/monarch-initiative/mondo/issues/2940 owl:Class MESH:C566234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717043006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255031003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/173590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/500002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10000880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3808494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017632 biolink:NamedThing obsolete rare tumor of liver and intrahepatic biliary tract Any of the forms of liver and intrahepatic bile duct neoplasm that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare liver and intrahepatic bile duct neoplasm|rare tumor of liver and IBT MONDO:0024477 Orphanet:306636 UMLS:C0023903 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C3539916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235828008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73103007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016253 biolink:NamedThing obsolete rare cancer of corpus uteri tmpaxzxjjyw_mondo_relaxed.owl rare malignant tumor of corpus uteri MONDO:0004992 Orphanet:213569 UMLS:C0153574 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C27179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/266270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4539857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/253270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2752043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/306900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/263210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:281702006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254986007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:50920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0032856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C0393559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47382004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:69723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253353007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:439849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11399002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D021182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10035154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:360339005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/252270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/218300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/264090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234622003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10043788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718770005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10001130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:3745000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/186200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000839 biolink:NamedThing obsolete congenital abnormality Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. tmpaxzxjjyw_mondo_relaxed.owl congenital deformity|defect/deformity, congenital|congenital defect|birth defect|fetal developmental abnormality|CM - congenital malformation|defect/deformity, Congenital|congenital anomalies of fetus|congenital anomaly|congenital Abnormality|congenital abnormality|SCONG|foetal malformation|congenital malformation|fetal malformation|congenital anomaly or birth defect|deformity/defect, Congenital|congenital anatomic Abnormality|congenital anatomical Abnormality|physical disorder|congenital defect/deformity out of scope SCTID:276654001|NCIT:C2849|MESH:D000013|DOID:0080015|ICD9:759.89|ICD10:Q00.Q99|ICD9:759.9|EFO:0003915|UMLS:CN232116 This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class NCIT:C2849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0178664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3539123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10038270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3888099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50869007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50923006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:314191009 biolink:NamedThing 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UMLS:C1970238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31996006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1327918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702413000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:20673009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0157696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:270494003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254170001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253298003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0175683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C107101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404052009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234110002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Angiosperm biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0158992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0877431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92337009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:276161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/242150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:389262009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006674 biolink:NamedThing obsolete benign fibrous mesothelioma A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure. tmpaxzxjjyw_mondo_relaxed.owl localized benign fibrous mesothelioma|fibrous mesothelioma, benign|solitary fibrous tumor, pleural|fibrous mesothelioma, benign (morphologic abnormality) out of scope DOID:2653|UMLS:C0334511|MESH:D054363 From NCIT: Fibrous mesothelioma (benign) is a terribly antiquated term. Even decades ago when it was reported, it was not described as being associated with neoplastic mesothelial cell proliferation. MONDO:0021041 True https://github.com/monarch-initiative/mondo/issues/3701 owl:Class MESH:D054363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10064242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl IAO:0000233 biolink:NamedThing term tracker item An IRI or similar locator for a request or discussion of an ontology term. tmpaxzxjjyw_mondo_relaxed.owl The 'tracker item' can associate a tracker with a specific ontology term. Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg term tracker item the URI for an OBI Terms ticket at sourceforge, such as https://sourceforge.net/p/obi/obi-terms/772/ Person: Jie Zheng, Chris Stoeckert, Alan Ruttenberg owl:AnnotationProperty SNOMEDCT:37991008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28259009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15170009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45116002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:66634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:3987009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C74559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:247182006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/257000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10044688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715419004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/234500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1708397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C127167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2674987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015983 biolink:NamedThing obsolete rare genetic syndromic intellectual disability Rare genetic syndromic intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl rare genetic syndromic intellectual disability MONDO:0000508 Orphanet:183763|UMLS:CN226822 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763315005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733638006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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SNOMEDCT:444374006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/131850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764965000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:229703009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10037322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31054009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/109350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9899009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:4320005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83799000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3532429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60342002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN252335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:330054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044284 biolink:NamedThing obsolete blood group, gerbich system The Gerbich blood group system contains 6 high-prevalence and 5 low-prevalence antigens that are expressed on glycophorin C (GPC), glycophorin D (GPD), or both GPC and GPD. GPC and GPD, which contribute stability to the red blood cell membrane, are encoded by the same gene, GYPC, through the use of alternative translational start sites. Deficiency of GPC and GPD is associated with hereditary elliptocytosis, and Gerbich antigens act as receptors for the malarial parasite Plasmodium falciparum (see OMIM:611162). The Gerbich antibodies anti-Ge2 and anti-Ge3 have caused hemolytic transfusion reactions, and anti-Ge3 has produced hemolytic disease of the fetus and newborn (review by {12:Walker and Reid, 2010}). tmpaxzxjjyw_mondo_relaxed.owl Gerbich blood Group system|GE|blood group, Gerbich system OMIM:616089 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/616089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400946004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:418279001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D028921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/133270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10061234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3888002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109383000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:123843001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9012003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:6111009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015881 biolink:NamedThing obsolete gastroesophageal tumor A tumor involving the gastroesophageal tissue. tmpaxzxjjyw_mondo_relaxed.owl rare gastroesophageal tumor Orphanet:180821|UMLS:CN200488 Reason for obsoletion: Ideally, we'd have tumor types linked to Uberon terms, but Uberon only has UBERON:0007650 esophagogastric junction. An Uberon term for this does not exist. True https://github.com/monarch-initiative/mondo/issues/1760|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:180821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66783006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240783007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/130950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42574005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:26037005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:410502007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D051677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN236651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020035 biolink:NamedThing obsolete rare otorhinolaryngologic tumor tmpaxzxjjyw_mondo_relaxed.owl rare ORL tumor|rare ORL cancer|rare ORL neoplasm MONDO:outOfScope UMLS:CN206960|Orphanet:98061 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:520820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10021202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/116860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/230450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:210163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:609329007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:envo.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/273770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720748007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719396000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717772000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/103500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017674 biolink:NamedThing obsolete disease with focal palmoplantar keratoderma as a major feature A disease in which focal palmoplantar keratoderma is a major feature.. tmpaxzxjjyw_mondo_relaxed.owl disease with focal palmoplantar hyperkeratosis as a major feature MONDO:outOfScope UMLS:CN203558|Orphanet:307871 ICD10:Q82.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class UMLS:C0265306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766708008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/260950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3808983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111232005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722437006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/309900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C38153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:698249005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4049993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/191100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:3238004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/103470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024505 biolink:NamedThing obsolete disorder by anatomical region A broad grouping of diseases based on major body subdivisions. tmpaxzxjjyw_mondo_relaxed.owl disorder of organism subdivision|disease by body site|disorder of anatomical|disorder by body site|disease of organism subdivision out of scope SCTID:123946008|UMLS:C1290853 This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class SNOMEDCT:722380003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237877004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718900002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0543514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:40315008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019061 biolink:NamedThing obsolete rare parathyroid disease and phosphocalcic metabolism anomaly tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN205542|Orphanet:68415 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN205542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:458718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:353356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720568003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128870005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024248 biolink:NamedThing obsolete pityriasis A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed) tmpaxzxjjyw_mondo_relaxed.owl Pityriases ICD9:696.5|SCTID:34630004|MESH:D010915 True owl:Class MESH:D010915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C82423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/167800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007659 biolink:NamedThing obsolete giant platelet syndrome with thrombocytopenia tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842035|OMIM:137560|MESH:C564237 MONDO:0007954 True owl:Class MESH:C564237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0376544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0455990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024583 biolink:NamedThing obsolete hernia The protrusion of part of an organ or fibroadipose tissue through an abnormal opening. tmpaxzxjjyw_mondo_relaxed.owl hernias|enterocele MESH:D006547|ICD10:K40.K46|NCIT:C34685 Represents finding. HP:0100790 True https://github.com/monarch-initiative/mondo/issues/1777 owl:Class NCIT:C34685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/134750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237041005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:203082005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/129540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59455009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29633007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017753 biolink:NamedThing obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation tmpaxzxjjyw_mondo_relaxed.owl disorder of peroxisomal alpha-, beta- and omega-oxidation out of scope UMLS:CN227198|GARD:0012476|Orphanet:309810 MONDO:0019233|MONDO:0100277 True https://github.com/monarch-initiative/mondo/issues/3316|https://rarediseases.info.nih.gov/diseases/12476/disorder-of-peroxisomal-alpha--beta--and-omega-oxidation owl:Class DOID:0070169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719160009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:191201002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702410002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/138110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128123007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0524812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/138070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3838691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238926009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044259 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in, 2 Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. {22:Valverde et al. (1995)} noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see OMIM:176830), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI; OMIM:600201), which antagonizes this action. tmpaxzxjjyw_mondo_relaxed.owl Red hair color|SHEP2|hair color 2|UV-induced skin damage, susceptibility to|Blond hair/fair skin|skin/hair/eye pigmentation, variation IN, 2|Rha OMIM:266300 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/266300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77507001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:521219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020097 biolink:NamedThing obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature. tmpaxzxjjyw_mondo_relaxed.owl autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature|disease with focal palmoplantar keratoderma as a major feature, autosomal recessive MONDO:outOfScope Orphanet:98357|UMLS:CN207000 ICD10:Q82.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class UMLS:CN207000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0585474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/304200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C89329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/218040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84114007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721313009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:20815007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237997005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0112198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:71290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0473876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29070004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10064569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10009018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/180550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:47159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302954008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0021390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/216550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:414952002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018723 biolink:NamedThing obsolete rare vascular malformation of major vessels tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN242093|Orphanet:458844 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:458844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:pato#location_grouping biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1520087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0175713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:65250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4511239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006967 biolink:NamedThing obsolete septic abortion tmpaxzxjjyw_mondo_relaxed.owl MedDRA:10040056|EFO:1001177|MESH:D000031 True owl:Class MESH:D000031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/259550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/246200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95532008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1274753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015958 biolink:NamedThing obsolete rare genetic bone disease Rare genetic bone disease. tmpaxzxjjyw_mondo_relaxed.owl rare genetic bone disease MONDO:0005381 UMLS:CN200553|Orphanet:183524 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:183524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/249900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:502430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:438274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C13184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018508 biolink:NamedThing obsolete rare carcinoma of small intestine Any of the forms of small intestine carcinoma that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare carcinoma of small bowel|rare small intestine carcinoma MONDO:0005522 Orphanet:423957 UMLS:C0238196 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/112250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10036370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/257910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:397828008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/115430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0856761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016629 biolink:NamedThing obsolete hemorrhagic disorder due to a platelet anomaly tmpaxzxjjyw_mondo_relaxed.owl rare bleeding disorder due to a platelet anomaly|rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia|rare coagulopathy due to a thrombopathy and/or thrombocytopenia|rare bleeding disorder due to a thrombopathy and/or thrombocytopenia|rare coagulopathy due to a platelet anomaly out of scope UMLS:CN236380|Orphanet:248326 MONDO:0002243 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D004310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:189179009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/192310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:55654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C146639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/166740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C000600608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0009766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:156171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:393564001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D045602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:416956002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0070011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class SNOMEDCT:405256006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4084841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88905005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17226007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10007426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235914003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4021133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/257400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0554472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/133705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/209885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10005053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128207002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/250100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253021007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238870004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10031036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015938 biolink:NamedThing obsolete systemic disease tmpaxzxjjyw_mondo_relaxed.owl out of scope MONDO:0000001 True owl:Class https://github.com/monarch-initiative/mondo/issues/3596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126902008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class NCIT:C84554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D053018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:711160007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763406004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0277351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15182000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0021847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:12295008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010045 biolink:NamedThing obsolete paraplegia-brachydactyly-cone-shaped epiphysis syndrome This syndrome is characterized by slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely. tmpaxzxjjyw_mondo_relaxed.owl Fitzsimmons-Guilbert syndrome|spastic paraplegia associated with brachydactyly type E|moved to 270550, 190350, and 616944|FITZSIMMONS-Guilbert syndrome|Fitzsimmons syndrome OMIM:270710|MESH:C537938|GARD:0002343|UMLS:C0795942|ICD10:G82.1|Orphanet:2823 Obsolete in OMIM and Orphanet. MONDO:0008596|MONDO:0014842|MONDO:0010041 True https://github.com/monarch-initiative/mondo/issues/1686 owl:Class UMLS:C0795942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716337006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1302839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84194006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253000007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:197579006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765331004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#ordo_clinical_syndrome biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl clinical syndrome owl:AnnotationProperty UMLS:CN197528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725047007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255035007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006872 biolink:NamedThing obsolete nut allergic reaction Allergic reaction to tree nuts that is triggered by the immune system. tmpaxzxjjyw_mondo_relaxed.owl nut allergy|allergy to nuts|allergy of 022 tree nuts (tn) (ccpr)|nut allergic reaction|022 tree nuts (tn) (ccpr) allergic disease MONDO:outOfScope DOID:4379|MESH:D021184|SCTID:91934008|UMLS:C0577620|EFO:1001066 SCTID:395654004 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class MESH:D021184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D045464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:397787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404076001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0745754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:262461007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188156001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93145002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0401151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/261640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126847008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/261600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88213004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59761008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:165805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:71659009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0859036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:60030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10041896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14168008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0475801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0748473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:443937008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C572568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28055006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:191172001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0877149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015868 biolink:NamedThing obsolete rare breast tumor Any of the forms of breast neoplasm that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare breast neoplasm|rare breast cancer MONDO:0021100 Orphanet:180250 UMLS:C1458155 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:180250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3714873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721711009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111503008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017142 biolink:NamedThing obsolete hemorrhagic disorder due to a qualitative platelet defect tmpaxzxjjyw_mondo_relaxed.owl rare bleeding disorder due to a constitutional thrombopathy|rare coagulopathy due to a qualitative platelet defect|rare coagulopathy due to a constitutional thrombopathy|rare bleeding disorder due to a qualitative platelet defect|rare hemorrhagic disorder due to a constitutional thrombopathy|rare hemorrhagic disorder due to a qualitative platelet defect MONDO:outOfScope Orphanet:275736|UMLS:CN227099 ICD10:D69.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:275736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS272430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1455735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:158775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1300227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:325124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:458775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:204942005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:25658005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:597733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/269500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2363973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10019827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C138171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230407006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS122000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72124005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230332007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0009400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:4598005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0259820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020032 biolink:NamedThing obsolete rare urinary tract tumor Rare urinary system benign neoplasm. tmpaxzxjjyw_mondo_relaxed.owl rare urinary tract cancer|rare urinary tract neoplasm|rare urinary system neoplasm MONDO:0021066 Orphanet:98058|UMLS:CN206957 Editor note: ORDO considers this benign but there are rare urinary tract tumors that are non-benign UMLS:C0751571|UMLS:C0042076 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:446079007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:48723006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018033 biolink:NamedThing obsolete other immunodeficiency syndromes due to defects in innate immunity tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN204276|Orphanet:331193 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN204276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88232005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720986005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN187045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000746 biolink:NamedThing obsolete inguinal hernia The protrusion of a sac-like structure containing fibroadipose tissue through an abnormal opening in the inguinal region. tmpaxzxjjyw_mondo_relaxed.owl DOID:0060320|ICD10:K40.90|MESH:D006552|ICD9:550|SCTID:396232000|NCIT:C34690|ICD9:550.90|HP:0000023|ICD10:K40 Represents finding. HP:0000023 True https://github.com/monarch-initiative/mondo/issues/1777 owl:Class SNOMEDCT:396232000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3281191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5552004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:488239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:208061000119101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:3944006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C112122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:267619000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:451612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D065817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68979007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007506 biolink:NamedThing obsoleted echo virus 11 sensitivity tmpaxzxjjyw_mondo_relaxed.owl echo virus 11 sensitivity|E11S MESH:C565071|UMLS:C1851888|OMIM:129150 MONDO:0005740 True owl:Class https://omim.org/entry/129150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl FOODON:03000005 biolink:NamedThing obsolete: Indian prawn tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:8252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:57196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/265050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/238750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0598798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715902009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/insdc/CM000664.2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:459787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726345000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:732261005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/226300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:243343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0856900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C172823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/159900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:17 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238050009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4305253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015857 biolink:NamedThing obsolete rare non-malformative gynecologic or obstetric disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200458|Orphanet:180199 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN200458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020742 biolink:NamedThing obsolete cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome tmpaxzxjjyw_mondo_relaxed.owl CAMAK syndrome|cataract, microcephaly, arthrogryposis, kyphosis 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87191000119100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10043848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/infantile.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:superorder biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:805002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28183005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763617006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10051456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65455002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/155255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015173 biolink:NamedThing obsolete autoimmune enteropathy type 2 tmpaxzxjjyw_mondo_relaxed.owl ICD10:K52.8|UMLS:CN226616|Orphanet:103916 Obsolete in Orphanet Orphanet:522043 True owl:Class UMLS:CN226616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:208981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:33355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66489009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060848 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tmpaxzxjjyw_mondo_relaxed.owl DOID:0050569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN623017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721200000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:371433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238534006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D021441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10004213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/255160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/274150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015621 biolink:NamedThing obsolete rare abdominal surgical disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000001 UMLS:CN199996|Orphanet:165711 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C7489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128329001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27173008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188242006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719512003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3887523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719514002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15945005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D057885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1708362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0040091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:25374005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33168009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:40951006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:67037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1096168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74944002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019937 biolink:NamedThing obsolete rare gynecologic or obstetric disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN206853|Orphanet:96344 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0111507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:443487006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233646003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10037904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/309580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111852003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:389145006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:4151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0338480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/189150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:181428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/101200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1328385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN043572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3493776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:392291006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:360375007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/314570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702447002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:220493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:36387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95643007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0277108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016082 biolink:NamedThing obsolete tracheo-esophageal fistula-hypospadias syndrome tmpaxzxjjyw_mondo_relaxed.owl Orphanet:2042|UMLS:CN226834|ICD10:Q87.8 Obsolete in Orphanet MONDO:0008586 True owl:Class MEDDRA:10059396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:22716005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/113200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/140850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:192970008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238436005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240820001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363382005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54905006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763865009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:26348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10005932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10039207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726051002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0549150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C117011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D064726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN034849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77506005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717262004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10038979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:64351000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0266294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/179450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0494226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:500481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS124900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C28396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1959626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3281092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/107550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS175800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/269880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:227786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017650 biolink:NamedThing obsolete rare myoclonus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005395 Orphanet:306747|UMLS:CN227170 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0110032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS228520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/rhabdomyosarcoma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001662 biolink:NamedThing obsolete right bundle branch block tmpaxzxjjyw_mondo_relaxed.owl right bundle branch block|obsolete right bundle branch block (disease)|right bundle branch block with left posterior fascicular block obsolete right bundle branch block (disease) ICD9:426.51|ICD9:426.4|DOID:13209|SCTID:59118001|HP:0011712 HP:0011712 True https://github.com/monarch-initiative/mondo/issues/2536 owl:Class DOID:13209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2237660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3281234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:193531003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10058423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:82077006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN073992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:118612006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0338503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017260 biolink:NamedThing obsolete systemic diseases with posterior uveitis tmpaxzxjjyw_mondo_relaxed.owl out of scope Orphanet:280930|UMLS:CN202778 This is a grouping class that is considered out of scope. MONDO:0006918 True owl:Class MEDDRA:10060957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254654004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/237000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/239840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83436008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C79548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:364568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/210100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/194090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/154570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1377843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020024 biolink:NamedThing obsolete rare infertility Rare infertility. tmpaxzxjjyw_mondo_relaxed.owl rare infertility disorder|rare infertility MONDO:0005047 Orphanet:98047|UMLS:CN227735 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C2675229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276654001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57219006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:14 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126859007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN240511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN262351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D055034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68272006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78250005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS133780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238003000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766934006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254626006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/128230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230572002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:49382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:10629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MESH:C536526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254083002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:155441006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:451607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10021216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:187058000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:210144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/refractory.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0266427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/113477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D063748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:58588007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/173700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0021360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49436004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190808009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10036732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238027003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D046248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020619 biolink:NamedThing obsolete blood group, langereis system tmpaxzxjjyw_mondo_relaxed.owl LAN|BLOOD GROUP, LANGEREIS SYSTEM OMIM:111600 True owl:Class https://omim.org/entry/111600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65710008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0012560 biolink:NamedThing obsolete invasive pneumococcal disease, recurrent isolated, 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011888 OMIM:610799 Obsolete in OMIM. True https://github.com/monarch-initiative/mondo/issues/2339 owl:Class https://omim.org/entry/610799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/137763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/308600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0863015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238081000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715771008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:4062006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3888307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35728003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205131007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10071757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:312104005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D044542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN240759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0877055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403442005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699251001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0855052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10054726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403767009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0151295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/179300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763375003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:414821002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763127004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0241913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C54220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/219550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C43340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188155002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007929 biolink:NamedThing obsolete Epstein syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007954 NCIT:C131639|UMLS:C0398641 True https://github.com/monarch-initiative/mondo/issues/396 owl:Class NCIT:C131639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10064895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4017171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0863027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:429753001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C117308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10062909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87433001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723554006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:194281003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10044269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237816004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60700002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236532003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:459061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:210136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C124839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400131007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:440987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715722003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0348970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/241530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN757793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1263888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363425008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000275 biolink:NamedThing obsolete monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele). tmpaxzxjjyw_mondo_relaxed.owl DOID:0050177 MONDO:0003847 True https://github.com/monarch-initiative/mondo/issues/1758 owl:Class DOID:0050177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C159111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty NCIT:C34891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81780002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/234700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10034764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10059439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/113960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3662487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/258650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10070667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:C0023462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10000748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022921 biolink:NamedThing obsolete short stature-microcephaly-heart defect syndrome tmpaxzxjjyw_mondo_relaxed.owl d'ercole syndrome|short stature microcephaly heart defect Orphanet:98464 GARD:0000233 Editor note: obsolete in ORDO yet not obsolete in main orphanet website [2018-01-09] True owl:Class https://omim.org/phenotypicSeries/PS166200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126908007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0302332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:267653001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254896002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54539003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C117307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61758007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020620 biolink:NamedThing obsolete blood group, ss tmpaxzxjjyw_mondo_relaxed.owl BLOOD GROUP, Ss|Ss|Ss Blood Group OMIM:111740 True owl:Class https://omim.org/entry/111740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN073087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0033838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:192643004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1306794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10036023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49701002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3714580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726606003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:37722001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/253601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702816000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10015034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/205700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/151050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018798 biolink:NamedThing obsolete other genetic dermis disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:477808|UMLS:CN776936 Editor note: consider obsoleting True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C536163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001467 biolink:NamedThing obsolete specific bursitis often of occupational origin tmpaxzxjjyw_mondo_relaxed.owl specific bursitides often of occupational origin UMLS:C0158332|SCTID:42812006|DOID:12223|ICD9:727.2 True owl:Class DOID:12223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018880 biolink:NamedThing obsolete rare teratologic disease tmpaxzxjjyw_mondo_relaxed.owl acquired embryofetopathy MONDO:outOfScope UMLS:CN205231|Orphanet:52662 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C537683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:85721000119105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254720009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0580181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN437676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363391009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719665003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254179000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:423781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:424261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN252647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17602002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070115 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:320332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/175750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765403009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015981 biolink:NamedThing obsolete inherited gynecological tumor tmpaxzxjjyw_mondo_relaxed.owl genetic gynecological tumor|rare genetic female reproductive system tumor 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0472694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/238710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:82458004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/186400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C41246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/medgen/575966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10071011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:158003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0009398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:390833005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0240803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:12876009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:307064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254738007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:3344003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:110004001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C124292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:431341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016627 biolink:NamedThing obsolete rare hemorrhagic disorder tmpaxzxjjyw_mondo_relaxed.owl rare bleeding disorder|rare coagulopathy MONDO:0002243 UMLS:CN226978|Orphanet:248308 UMLS:C0005779|UMLS:C0019087 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:91855006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2363142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10019461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10000804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:423982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:281139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1377598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10029323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/183500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0340037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:266257000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715905006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0151332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:220386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN030594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017120 biolink:NamedThing obsolete other syndrome with a central nervous system malformation as major feature tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:269531|UMLS:CN202470 Editor note: consider deleting all 'other' terms True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class DOID:5870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020264 biolink:NamedThing obsolete spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98694 True owl:Class ORPHA:98694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:331187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:90117007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0559458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92083007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702326000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126703006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/305100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/236400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715647007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020615 biolink:NamedThing obsolete blood group system, landsteiner-wiener tmpaxzxjjyw_mondo_relaxed.owl LW|BLOOD GROUP SYSTEM, LANDSTEINER-WIENER|Landsteiner-Wiener Blood Group System OMIM:111250 True owl:Class https://omim.org/entry/111250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:247479008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:443416007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS145600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236772009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10059626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719454003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D065886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C54295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10009259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/233910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS136760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46091002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:64235006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:84065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/308250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238836000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:353284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240221008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3899673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89155008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/305920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237886009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721835008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1415817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C54705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72284000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10035059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/216330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN842244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235878005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1201005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/104500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10033366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:42062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190787008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715217004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018104 biolink:NamedThing obsolete Torg-Winchester syndrome tmpaxzxjjyw_mondo_relaxed.owl Winchester syndrome out of scope ICD10:M89.5|OMIM:277950|Orphanet:3460|OMIM:259600 Reason: obsoleted in Orphanet, out of scope. Term to consider: MONDO:0010201. MONDO:0010201 True owl:Class MONDO:0007464 biolink:NamedThing obsolete isolated distichiasis Isolated distichiasis is a rare congenital eyelid anomaly characterized by an accessory row of eyelashes (that may be partial or complete) posterior to the normal row of cilia, at or close to the meibomian gland orifices, that is not associated with any other condition, and that may lead to ocular irritation and corneal damage if left untreated. tmpaxzxjjyw_mondo_relaxed.owl eyelashes, two rows of|distichiasis ICD9:743.63|Orphanet:99177|OMIM:126300|ICD10:Q10.3|SCTID:95339000 HP:0009743 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class ORPHA:99177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0546826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715824008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015959 biolink:NamedThing obsolete inherited syndrome with bone tumors as a major feature tmpaxzxjjyw_mondo_relaxed.owl genetic bone tumor MONDO:0005070 Orphanet:183527|UMLS:CN200554 This class was seeded from the ORDO genetic bone tumor class. We have renamed as this reflects the intent. See discussion here: https://github.com/Orphanet/ORDO/issues/13 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/projects/6 owl:Class MESH:C564378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/161900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:64043005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766711009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1563719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3711381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/124300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN030661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:16044751000119106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128473001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/266250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/278900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/188100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702431004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:449799008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/155100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:459056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS104500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:444051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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DOID:0110742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:367601000119103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015192 biolink:NamedThing obsolete unclassified intestinal pseudoobstruction tmpaxzxjjyw_mondo_relaxed.owl out of scope ICD10:K59.8|UMLS:CN197532|Orphanet:104078 MONDO:0017574 True owl:Class UMLS:CN197532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019590 biolink:NamedThing obsolete rare endocrine growth disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN206437|Orphanet:90692 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C165451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:719907006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17300000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/274000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS273800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238772004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18241005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:86204009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1305256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/102700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:269209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703233008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73452002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/162900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0344975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:48813009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/194380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2749049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10058299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C548082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716456000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/153470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:39929009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10036476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016135 biolink:NamedThing obsolete rare hereditary neurologic disease with peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200899|Orphanet:207025 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/224230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:67242002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0678222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/155240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/179800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254437001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10063344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11178005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MEDDRA:10001471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:274096000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277571004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126732009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68225006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:482606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/201200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:232288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS256850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:500180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008126 biolink:NamedThing obsolete oncogene Yuasa tmpaxzxjjyw_mondo_relaxed.owl oncogene Yuasa OMIM:164891 This is a gene record, not a disease. True https://github.com/monarch-initiative/mondo/issues/1452 owl:Class https://omim.org/entry/164891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020200 biolink:NamedThing obsolete conjunctival hemangioma or hemolymphangioma tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98612 Obsolete in Orphanet MONDO:0006170 True owl:Class ORPHA:98612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D030342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:177101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C42690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363416002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718608006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10035079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015321 biolink:NamedThing obsolete Pierre Robin syndrome associated with branchial archs anomalies tmpaxzxjjyw_mondo_relaxed.owl out of scope MONDO:0018187 True owl:Class SNOMEDCT:254069004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10029542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D065705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763767006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84622004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:202809009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/medgen/537148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C130994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254114000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/122430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10038905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:444463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015940 biolink:NamedThing obsolete rare rheumatologic disease Any of the forms of rheumatologic disorder that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare rheumatological disease|rare rheumatologic disorder MONDO:0005554 UMLS:CN200530|Orphanet:182231 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:4327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/218450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0577692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1685005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10059364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0679362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2403008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:494348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:37272000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1112003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0700345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/241200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C38938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:182108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83330001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/263100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:456369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65340007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702363009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10056886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237929000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10000890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/123540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10030314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/182260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#ABBREVIATION biolink:NamedThing abbreviation tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:95412009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN074193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:caro.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016645 biolink:NamedThing obsolete rare neoplastic disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0023370 Orphanet:250908|UMLS:CN201870 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:250908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59275002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:48104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl IAO:0000116 biolink:NamedThing editor note An administrative note intended for its editor. It may not be included in the publication version of the ontology, so it should contain nothing necessary for end users to understand the ontology. tmpaxzxjjyw_mondo_relaxed.owl GROUP:OBI: editor note PERSON:Daniel Schober owl:AnnotationProperty MESH:C536394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN028786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:488232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721834007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52486002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10052642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:23247008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4076165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#ordo_inheritance_inconsistent biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl classes where the corresponding ordo term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406 owl:AnnotationProperty DOID:0080520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720830009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:415286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764951002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:118933004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2018777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715422002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3805742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3839265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10074389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:307596009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN229495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN236791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:402041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49774006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020017 biolink:NamedThing obsolete rare otorhinolaryngologic disease Any of the forms of otorhinolaryngologic disease that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare otorhinolaryngologic disease|rare head and neck disease MONDO:0024623 Orphanet:98036|UMLS:CN206950 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016623 biolink:NamedThing obsolete rare deficiency anemia Any of the forms of deficiency anemia that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare deficiency anemia MONDO:0001639 Orphanet:248293 UMLS:C0041782 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:353351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/218670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10010510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235603003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723367005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126885006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302870006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3275406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3665405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/231300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:118945008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:104010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0262659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019059 biolink:NamedThing obsolete rare parkinsonian disorder Rare parkinsonian disorder. tmpaxzxjjyw_mondo_relaxed.owl rare hypokinetic movement disorder|rare parkinsonian disorder MONDO:0021095 Orphanet:68402 UMLS:C0242422 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D017074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C157527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/601386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/233650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class SNOMEDCT:239118007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019519 biolink:NamedThing obsolete rare skin disease Rare skin disease. tmpaxzxjjyw_mondo_relaxed.owl rare skin disease MONDO:0005093 Orphanet:89826|UMLS:CN206332 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:89826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87252009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:404560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1112486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/188055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:8800006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016233 biolink:NamedThing obsolete rare lymphatic system malformation tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200997|Orphanet:211255 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1304508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126909004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62767009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716106000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/neuroendocrine_neoplasm_grade1.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019491 biolink:NamedThing obsolete rare intellectual disability Rare intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl rare intellectual disability MONDO:0001071 UMLS:CN227638|Orphanet:87277 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:80281008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3662272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733606001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:177107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C102897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/149730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/158590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS109720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:231824001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/190330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126731002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:172976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83883001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1709656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:365563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84048006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/176690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl IAO:0000118 biolink:NamedThing alternative term An alternative name for a class or property which means the same thing as the preferred name (semantically equivalent) tmpaxzxjjyw_mondo_relaxed.owl GROUP:OBI: alternative term PERSON:Daniel Schober owl:AnnotationProperty NCIT:C3545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:371972005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/580000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:76886005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:423673009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C153291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN074258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/158280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C142080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42376006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0040093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566741 biolink:NamedThing 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C105551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:733447005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019602 biolink:NamedThing obsolete other inborn metabolic disease tmpaxzxjjyw_mondo_relaxed.owl other metabolic disease MONDO:outOfScope UMLS:CN206450|Orphanet:91088 True 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ORPHA:98807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766884000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/302800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/190320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3281125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:37832003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3887982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:191384005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020803 biolink:NamedThing obsolete bundle branch block A defect of the bundle branches or fascicles in the electrical conduction system of the heart. tmpaxzxjjyw_mondo_relaxed.owl SCTID:6374002 HP:0011710 True https://github.com/monarch-initiative/mondo/issues/2536 owl:Class SNOMEDCT:6374002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000776 biolink:NamedThing obsolete metal allergy A allergy involving a metal allergen. tmpaxzxjjyw_mondo_relaxed.owl allergy of metal allergen|metal allergen allergic disease MONDO:outOfScope UMLS:C0577627|SCTID:300915004|DOID:0060501 ICD9:995.3 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class SNOMEDCT:300915004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017653 biolink:NamedThing obsolete epilepsy and/or ataxia with myoclonus as major feature tmpaxzxjjyw_mondo_relaxed.owl Orphanet:306756 True owl:Class https://omim.org/entry/617072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10059314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C120372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#other_hierarchy biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl A bin for classes that are likely not diseases and may be moved to a separate hierarchy owl:AnnotationProperty NCIT:C34697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:389261002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0687120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C142085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:464288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:71906005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C79702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D059347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0375381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/211900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018386 biolink:NamedThing obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder tmpaxzxjjyw_mondo_relaxed.owl rare male infertility due to hypothalamic-pituitary-testicular axis disorder|rare male infertility due to gonadotropic axis disorder MONDO:outOfScope Orphanet:399572|UMLS:CN227334 ICD10:N46 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C4303591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0243002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74732009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D045729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:54595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011467 biolink:NamedThing obsolete human herpesvirus type 6, integrated tmpaxzxjjyw_mondo_relaxed.owl human herpesvirus type 6, integrated UMLS:C1858340|MESH:C565771|OMIM:604474 True owl:Class UMLS:C1858340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017660 biolink:NamedThing obsolete rare genetic parkinsonian disorder tmpaxzxjjyw_mondo_relaxed.owl rare genetic hypokinetic movement disorder MONDO:0021095 Orphanet:307052|UMLS:CN227172 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0432373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73237007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:427999003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C159100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty NCIT:C122653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D041781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33979003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49292002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0005720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class http://identifiers.org/medgen/60214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:436252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3899655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92585006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:40278002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276508000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87343002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3665676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/224300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1096116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3161105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS314580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19265001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/252600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020609 biolink:NamedThing obsolete blood group, colton system tmpaxzxjjyw_mondo_relaxed.owl Colton-Null Phenotype|CO|BLOOD GROUP, COLTON SYSTEM|Colton Blood Group System OMIM:110450 True owl:Class https://omim.org/entry/110450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10056950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763129001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/202010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10007636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C60672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/137400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C52593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56364004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:31826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/308100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:86463003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230155003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/241100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:181396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018928 biolink:NamedThing obsolete rare hepatic disease Rare liver disease. tmpaxzxjjyw_mondo_relaxed.owl rare liver disease MONDO:0005154 Orphanet:57146|UMLS:CN205315 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0002510 biolink:NamedThing obsolete germ cell and embryonal cancer Neoplasms composed of primordial germ cells of embryonic gonads or of elements of the germ layers of the embryo, mammalian. The concept does not refer to neoplasms located in the gonads or present in an embryo or fetus. tmpaxzxjjyw_mondo_relaxed.owl germ cell and embryonal neoplasm MESH:D009373|DOID:3095 Embryonal malignancies are composed of primitive (immature) tissues and do not originate from the germinal layer. Germ cell malignancies originate from the germinal layer. This is a poor term, should be removed. MONDO:0005040 True https://github.com/monarch-initiative/mondo/issues/376 owl:Class NCIT:C50575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70647001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/156230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:497764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:413537009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0282550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725418006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715952000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765756007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:10743008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:445741003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31268005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019274 biolink:NamedThing obsolete other epidermal disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:79359|UMLS:CN227609 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN227609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:88644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0859960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0333983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75702008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:435743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C71719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/123450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/515000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1708550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:421455009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56625005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400178008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70422006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:264008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17342003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020126 biolink:NamedThing obsolete rare peripheral neuropathy Rare peripheral neuropathy. tmpaxzxjjyw_mondo_relaxed.owl rare 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Often, persons with perfect pitch possess a memory capacity whereby they can remember the pitch of a note and the configuration of a group or series of notes after a significant interval of time has elapsed. These recognitive and memory talents involve a potential capacity for performing these functions together with a practice factor which is necessary for the maintenance of the skills at the highest level (summary by {12:Profita and Bidder, 1988}). 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3697982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10018825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10000452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205813009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13706005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10056961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715215007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:20551005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126707007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039743 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl MESH:D002294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS609620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721975004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3898125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:735907005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C74984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:5388008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0016627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017977 biolink:NamedThing obsolete 46,XY disorder of sex development of gynecological interest tmpaxzxjjyw_mondo_relaxed.owl 46,XY DSD of gynecological interest Orphanet:325632|UMLS:CN227238 These terms are not used clinically. MONDO:0001967|MONDO:0002145 True owl:Class UMLS:CN227238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:439737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/266600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/304800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45517002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:734015000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3698541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS261100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:364063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59276001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS211530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726342002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:231472009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:457223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723452007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/182170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C95992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/232500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018651 biolink:NamedThing obsolete lipoyl transferase 2 deficiency tmpaxzxjjyw_mondo_relaxed.owl out of scope Orphanet:447795 This is a biological anomaly and not a disease. True owl:Class OBO:mondo#ordo_biological_anomaly biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl biological anomaly owl:AnnotationProperty MESH:D019572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/208000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/181350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/254400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236644005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C66903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022412 biolink:NamedThing obsolete albinism immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl GARD:0000590 True https://rarediseases.info.nih.gov/diseases/590/albinism-immunodeficiency owl:Class SNOMEDCT:32916005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77080005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/312170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS617186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/130300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9105005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:36355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724064004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725907002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10029530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/154750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:279943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0338465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN847583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0748226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:231719009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:538096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:58912008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0023174 biolink:NamedThing obsolete follicular lymphoreticuloma tmpaxzxjjyw_mondo_relaxed.owl GARD:0002357 Editor note: check hodgkin's disease, lymphocyte depletion, reticular True https://rarediseases.info.nih.gov/diseases/2357/follicular-lymphoreticuloma owl:Class MESH:C567714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C62571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C103330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/300497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234131004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47639008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/147300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018287 biolink:NamedThing obsolete congenital disorder of glycosylation with epilepsy as a major feature tmpaxzxjjyw_mondo_relaxed.owl CDG with epilepsy as a major feature MONDO:outOfScope Orphanet:371071 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class https://omim.org/entry/304500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/274800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0281267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/264600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:67144006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1279621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:278050001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:198130006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0376538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/204300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:424010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5689008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020241 biolink:NamedThing obsolete unclassified familial retinal dystrophy tmpaxzxjjyw_mondo_relaxed.owl out of scope Orphanet:98662|UMLS:CN227835 MONDO:0019118 True owl:Class ORPHA:98662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:249491000119100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D030401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:44890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C135090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:43935004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716862002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722111004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/201000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2749656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766237006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN043649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/249310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:229733002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255028004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:43119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10007688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:504476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0079584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C82433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2674616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1968893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/230600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95462004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1261567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707443007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:86907008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363468009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0005694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276701009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:307343001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0431401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS220210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C48259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:360495000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:10890000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30171000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015549 biolink:NamedThing obsolete rare genetic hematologic disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005570 Orphanet:158300|UMLS:CN199710 Reason for obsoletion: we want to remove rare X terms from Mondo. True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/1748 owl:Class ORPHA:3266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/271620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702437000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:200941006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C119992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81285006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277807007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020223 biolink:NamedThing obsolete lens and zonula anomaly tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:98639 True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:2482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399343007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C104003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253878003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722377004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/136540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:419395007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92405007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/109500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN593636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:83553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:206997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720418008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:485275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10047974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54556006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50330009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009428 biolink:NamedThing obsolete childhood hypophosphatasia Childhood-onset hypophosphatasia is a rare, mildform of hypophosphatasia characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures,skeletal deformities,and rickets with short stature and waddling gait. tmpaxzxjjyw_mondo_relaxed.owl childhood-onset phosphoethanolaminuria|childhood-onset Rathburn disease|childhood-onset hypophosphatasia|obsolete childhood hypophosphatasia|hypophosphatasia of childhood|pediatric hypophosphatasia|hypophosphatasia, childhood out of scope MESH:C562440|ICD10:E83.3|SCTID:30174008|DOID:0110915|Orphanet:436|Orphanet:247667|OMIM:241510|UMLS:C0220743|GARD:0008735 MONDO:0600009|MONDO:0600010|MONDO:0600011 True https://rarediseases.info.nih.gov/diseases/8735/childhood-hypophosphatasia|https://github.com/monarch-initiative/mondo/issues/2906 owl:Class DOID:0110915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/161500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62676009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1621958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020234 biolink:NamedThing obsolete craniofacial anomaly with cataract tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98650 True owl:Class https://omim.org/entry/119900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020268 biolink:NamedThing obsolete ichthyosis associated with ocular features tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98698 True owl:Class ORPHA:98698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766816008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719981005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0362030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:118608000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015847 biolink:NamedThing obsolete rare vaginal malformation tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:180151|UMLS:CN226752 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1332887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044248 biolink:NamedThing obsolete thiourea tasting The sense of bitter taste is mediated by a group of bitter taste receptor proteins that reside on the surface of taste cells within the taste buds of the tongue. These proteins are 7-transmembrane domain, G protein-coupled receptors that are encoded by the TAS2R gene family (see TAS2R10; OMIM:604791), which contains at least 25 functional genes ({22:Kim et al., 2005}).nnHumans worldwide display a bimodality in sensitivity to the bitter taste of PTC, with approximately 75% of individuals perceiving it as intensely bitter, whereas the rest perceive it as tasteless. This difference has been the basis of study of taste perception in humans for over 70 years. {21:Kim and Drayna (2004)} provided an historical review of the subject.nnPropylthiouracil (PROP) and PTC are members of a class of compounds known as thioureas. The compounds carry the chemical group N-C=S, which is responsible for their characteristic bitter taste ({3:Bartoshuk et al., 1994}; {10:Drewnowski and Rock, 1995}). tmpaxzxjjyw_mondo_relaxed.owl ptc tasting|THIOT|prop tasting|Phenylthiocarbamide tasting|Propylthiouracil tasting|thiourea tasting OMIM:171200 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/171200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4305230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0157770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D028226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018557 biolink:NamedThing obsolete rare genetic autonomic nervous system disorder Rare genetic autonomic nervous system disease. tmpaxzxjjyw_mondo_relaxed.owl rare genetic autonomic nervous system disease MONDO:0001292 Orphanet:434786|UMLS:CN237558 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1332557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/159400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68190001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007567 biolink:NamedThing obsolete Epstein-Barr virus insertion site 1 tmpaxzxjjyw_mondo_relaxed.owl Epstein-Barr Virus integration site|Epstein-Barr Virus insertion site type 1|Epstein-Barr virus insertion site 1|EBVS1|Epstein-Barr VIRUS insertion site 1 OMIM:132850 Not a disease but a genomic locus. True https://github.com/monarch-initiative/mondo/issues/1633 owl:Class https://omim.org/entry/132850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016132 biolink:NamedThing obsolete rare hereditary disease with peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:207015 UMLS:C0392553 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:13955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:409941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:307846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3808920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/140700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240787008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10044582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2576002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10006121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10061299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C157532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty http://identifiers.org/refseq/NC_000003.12 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015224 biolink:NamedThing obsolete rare intoxication Any of the forms of poisoning that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare poisoning MONDO:0029000 Orphanet:108999|UMLS:CN226640 Editor note: consider obsoleting True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN226154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015970 biolink:NamedThing obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200569|Orphanet:183634 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C34353 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/187900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:312929003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363385007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:445237003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/107600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:734018003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234468009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7046009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:0110579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4302745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238627002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56573006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:4471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0348781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:85375000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:25858008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277605001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36259009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:23680005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723453002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1841836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719049003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044221 biolink:NamedThing obsolete blood group--lutheran inhibitor tmpaxzxjjyw_mondo_relaxed.owl blood group--Lutheran INHIBITOR|dominant 50U (A-B-) phenotype|INLU OMIM:111150 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/111150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79607001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/272150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/228900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:413446001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1141890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2748550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:208444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:104077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111227009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/104570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0009324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015980 biolink:NamedThing obsolete rare genetic gynecological and obstetrical diseases tmpaxzxjjyw_mondo_relaxed.owl rare genetic female reproductive system disease MONDO:0002263 UMLS:CN200580|Orphanet:183731 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN200580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57019003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:398696001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:48611009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS160120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719510006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0005956 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4302508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/139750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4012050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0269218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:158011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015124 biolink:NamedThing obsolete rare adrenal disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005495 Orphanet:101954 UMLS:C0001621 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN202577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57207003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C571911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:47044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:371157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722435003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11543004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/150400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7111000119109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722292000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:411712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719161008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60136008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1442927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:317349009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0043881 biolink:NamedThing obsolete acute eosinophilic leukemia A poorly defined concept which at best is described as an extremely rare entity, possibly related to various subtypes of acute myeloid leukemia with abnormal eosinophils. (WHO, 2001) tmpaxzxjjyw_mondo_relaxed.owl acute eosinophilic leukemia|eosinophilic leukemia, acute|leukemia, acute eosinophilic|acute eosinophilic leukemias|eosinophilic leukemias, acute|leukemias, acute eosinophilic MESH:D015472|UMLS:C0023439|NCIT:C26813|SCTID:277604002|EFO:1001888 True owl:Class SNOMEDCT:277604002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:156143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:200973000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:31043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/235830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:240071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS615040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:428041004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41564009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C000598645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3277671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:10091002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:124252008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:65753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C37201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2212024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10066796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10050183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/211980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2937231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:29073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277602003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:2590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721974000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:412057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016134 biolink:NamedThing obsolete rare hereditary systemic disease with peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200898|Orphanet:207021 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C61272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:708672004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74320008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763130006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3888244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/214950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:269485000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715522000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:496790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:156152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722037004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277664004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0005129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN244567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D065766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726620005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:485358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/insdc/CM000667.2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/127550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363429002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230421008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C100051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10036175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class SNOMEDCT:719517009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:221120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/260350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016232 biolink:NamedThing obsolete rare venous malformation tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:211252 Editor note: check this UMLS:C0265950|UMLS:C2937220|ICD10:Q27.8|MedDRA:10025532 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0600452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14911005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73098005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:60003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:398726004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS169150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:88630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277950001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3275750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/137220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10052621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0311376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74460005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015112 biolink:NamedThing obsolete rare pancreatic disease Any of the forms of pancreas disease that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare pancreas disease MONDO:0002356 Orphanet:101937 UMLS:C0030286 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MEDDRA:10069203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14921002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111520007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36656008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:210548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:457185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1257809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363492001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10001413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10036669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10018378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10040631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68504005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:471885006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/214700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236811002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236392004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/176670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:278453007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10007700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:156246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:67895005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10071718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720412009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57406009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126947009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016891 biolink:NamedThing obsolete partial deletion of the short arm of chromosome 9 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0008013 Orphanet:261929 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class ORPHA:261929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10021449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83015004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:73263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0045027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class SNOMEDCT:445431000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:445513004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/128700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS134600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:53602002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237790001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015223 biolink:NamedThing obsolete rare anemia Rare anemia. tmpaxzxjjyw_mondo_relaxed.owl rare anemia|rare anemia (disease) MONDO:0002280 Orphanet:108997 UMLS:C0002871 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/133300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN074256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/268650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1509148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46586006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:76105009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015511 biolink:NamedThing obsolete rare genetic urogenital disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021145 UMLS:CN199644|Orphanet:156619 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C118785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:444830001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302810003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51040009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/201475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399340005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:267534000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:198142001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254464000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0521655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10012979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C159120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0730304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:371176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017976 biolink:NamedThing obsolete disorder of sex development of gynecological interest tmpaxzxjjyw_mondo_relaxed.owl DSD of gynecological interest Orphanet:325620|UMLS:CN227237 These terms are not used clinically. MONDO:0001967|MONDO:0002145 True owl:Class UMLS:CN227237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:70 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/166800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51022005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:22949006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29689003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/releases/2022-02-04/mondo.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719218000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:429735007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51169003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715192004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS118220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33382000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15682004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255058005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:218728005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004391 biolink:NamedThing obsolete adult extraosseous chondrosarcoma A extraosseous chondrosarcoma that occurs in an adult. tmpaxzxjjyw_mondo_relaxed.owl extraosseous chondrosarcoma of adults DOID:7902 NCIt recommended obsoletion of the parent class. MONDO:0012825 True https://github.com/monarch-initiative/mondo/issues/388 owl:Class DOID:7902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015602 biolink:NamedThing obsolete developmental delay-deafness syndrome, Hildebrand type tmpaxzxjjyw_mondo_relaxed.owl Orphanet:163988|UMLS:CN199975 Obsolete in Orphanet MONDO:0010558 True owl:Class UMLS:CN199975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C79717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88037009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/211450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75316000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/182290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/106050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044272 biolink:NamedThing obsolete body mass index quantitative trait locus 9 tmpaxzxjjyw_mondo_relaxed.owl obesity, susceptibility to|body MASS index quantitative trait locus 9|BMIQ9 OMIM:602025 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/602025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020100 biolink:NamedThing obsolete rare hemolytic anemia Rare hemolytic anemia. tmpaxzxjjyw_mondo_relaxed.owl rare hemolytic anemia MONDO:0003664 Orphanet:98363 UMLS:C0002878 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0023494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718189004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D042101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/157151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254664008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS400044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/256700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0431124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:25277000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:54368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763277009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2986703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0262584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10072219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN229031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718224004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30369007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400142003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1378703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C142799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0279653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:424795008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:40354009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4540127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719172003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:58459009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77553008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54203008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:119181000119104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70691001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:8793008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715428003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65553006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:43916004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN282828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C120887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/120430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254770007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4305256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10039234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716662004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:182058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C580062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/208250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020009 biolink:NamedThing obsolete rare neurologic disease Rare nervous system disease. tmpaxzxjjyw_mondo_relaxed.owl rare nervous system disease|rare nervous system disorder MONDO:0005071 UMLS:CN206943|Orphanet:98006 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C4767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87607002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:23511006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254093009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:423776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1960539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C159503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty ORPHA:329308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1321220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402841001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2004461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2987240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720859009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:123809005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/233810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4272579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4303135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10025282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111496009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:231829006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29028009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:208441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255055008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:496751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN036354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS137950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95656000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56604005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:73223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:46348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/204750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10019860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715829003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:398796005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10024033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:312905005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/131880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720752007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190502001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016679 biolink:NamedThing obsolete rare tumor of neuroepithelial tissue Any of the forms of neuroepithelial neoplasm that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare neuroepithelial neoplasm MONDO:0021193 Orphanet:251558 UMLS:C0206715 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MEDDRA:10002022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001362 biolink:NamedThing obsolete leukocoria An abnormal white reflection from the retina of the eye. tmpaxzxjjyw_mondo_relaxed.owl HP:0000555 UMLS:C0152458|SCTID:1361009|DOID:11772|ICD10:H44.53|ICD9:360.44 Obsoleted as it represents a feature/finding True owl:Class UMLS:C0152458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:155838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0340992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52585001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:494541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:86610004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4329999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721882001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763316006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10008587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766705006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235001002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190828008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302837001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C121944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/162270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/200700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95323007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/123700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C62596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty ORPHA:141064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/235760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:121951000119101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C5200933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007798 biolink:NamedThing obsolete adult hypophosphatasia Adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia characterized by osteomalacia, chondrocalcinosis, osteoarthropathy, stress fractures duringmiddle age, and dental anomalies. tmpaxzxjjyw_mondo_relaxed.owl mild hypophosphatasia|hypophosphatasia of adults|odontohypophosphatasia|hypophosphatasia, ADULT|hypophosphatasia, mild|obsolete adult hypophosphatasia|adult Rathburn disease|adult phosphoethanolaminuria out of scope UMLS:C0268413|ICD10:E83.3|OMIM:146300|Orphanet:436|UMLS:C1840322|Orphanet:247676|SCTID:20756002|Orphanet:247685|DOID:0110913 MONDO:0600009|MONDO:0600010|MONDO:0600011 True https://github.com/monarch-initiative/mondo/issues/2906 owl:Class UMLS:C0268413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C127160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:16872008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363378008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/248760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:187151009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:20427003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C581942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11251000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018290 biolink:NamedThing obsolete congenital disorder of glycosylation with cardiac malformation as a major feature tmpaxzxjjyw_mondo_relaxed.owl CDG with cardiac malformation as a major feature MONDO:outOfScope Orphanet:371183 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class DOID:9988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:485421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723446006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/164190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017657 biolink:NamedThing obsolete rare paroxysmal movement disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN227171|Orphanet:306768 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:1485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3807327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001494 biolink:NamedThing obsolete transvestism A disorder characterized by recurrent sexual urges, fantasies, or behaviors in a heterosexual male involving cross-dressing. tmpaxzxjjyw_mondo_relaxed.owl cross dresser|Transvestic fetishism|dual-role transvestism SCTID:472981000|DOID:1233|ICD10:F64.1|MESH:D014190|NCIT:C94359|UMLS:C0040774|ICD10:F65.1|ICD9:302.3 True owl:Class DOID:1233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:108969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89980009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:368851000119102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722005000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/234100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277879009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1960561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10017727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/168601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C124505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763891005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764619001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C168657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty DOID:0080507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/113950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254705003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764454003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C159125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MESH:D008457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/312920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D055623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29731002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0040088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C121184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718914002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0023873 biolink:NamedThing obsolete Noonan-like/multiple giant cell lesion syndrome Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome who also have giant cell lesions (benign tumor-like lesions that most frequently occur in the jaws but may also affect other bones or soft tissues) and resemble individuals who have cherubism. Although NS/MGCLS was once believed to be a separate condition, it is now known to bepart of the Noonan syndrome spectrum. Mutations in the PTPN11 and SOS1 genes have been associated with NS/MGCLS; however, mutations in these genes do not always cause giant cell lesions. One family with NS/MGCLS has been found to have a mutation in the PTPN11 gene butno giant cell lesions, suggesting that other genetic factors may be involved in leading to giant cell development. Multiple giant cell lesions associated with NS may resolve after puberty with variable restoration of the facial structure. tmpaxzxjjyw_mondo_relaxed.owl NL/MGCLS OMIM:163955|GARD:0004006 MONDO:0012547|MONDO:0008104 True owl:Class https://omim.org/entry/163955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:53726008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C120198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254085009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/269630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10039768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10008033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:445038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008697 biolink:NamedThing obsolete acetophenetidin sensitivity tmpaxzxjjyw_mondo_relaxed.owl Acetophenetidin sensitivity OMIM:200300 True owl:Class https://omim.org/entry/200300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/121210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:411709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:464293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205133005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715827001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763132003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/268900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2721741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:197585004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0235228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3812646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717156002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2959445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS157300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10024229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1096100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:412217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020116 biolink:NamedThing obsolete rare blood coagulation disease Any of the forms of blood coagulation disease that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare blood coagulation disease|rare coagulation disorder MONDO:0001531 Orphanet:98429 UMLS:C0005779 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:2051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS224050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2315246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10059019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:100233350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92468007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0241989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:435804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62005008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3830518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:124331002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/220150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55408009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:48 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3147083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1367774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0476203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716594002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92318000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4255374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10001388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/185069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10064962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10047794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/152700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50821009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN774236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/disease_by_dysfunctional_structure.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/135400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN074199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:711524008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/265140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015115 biolink:NamedThing obsolete rare genetic metabolic liver disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005066 Orphanet:101940|UMLS:C0851734 MedDRA:10019689 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0017000 biolink:NamedThing obsolete X chromosome number anomaly with female phenotype tmpaxzxjjyw_mondo_relaxed.owl Orphanet:263717 True owl:Class ORPHA:263717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:39044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0269972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C79805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C0259799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4023011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0558355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:85653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:0110048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89142007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:271807003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765100000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725157006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:37231002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93451002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN240513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0311262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:464738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN244926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008204 biolink:NamedThing obsolete patella aplasia, coxa vara, and tarsal synostosis tmpaxzxjjyw_mondo_relaxed.owl patella aplasia, coxa vara, and tarsal synostosis MESH:C536307|OMIM:168850 MONDO:0007841 True owl:Class https://omim.org/entry/168850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:359610006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89141000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:24354007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3889475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56177003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl IAO:0000589 biolink:NamedThing OBO foundry unique label An alternative name for a class or property which is unique across the OBO Foundry. tmpaxzxjjyw_mondo_relaxed.owl GROUP:OBO Foundry The intended usage of that property is as follow: OBO foundry unique labels are automatically generated based on regular expressions provided by each ontology, so that SO could specify unique label = 'sequence ' + [label], etc. , MA could specify 'mouse + [label]' etc. Upon importing terms, ontology developers can choose to use the 'OBO foundry unique label' for an imported term or not. The same applies to tools . OBO foundry unique label PERSON:Alan Ruttenberg|PERSON:Melanie Courtot|PERSON:Bjoern Peters|PERSON:Chris Mungall owl:AnnotationProperty https://omim.org/entry/604805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:60008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:330032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724275005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19161004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722477003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92772005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/166200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:596937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726735000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:734023003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN873435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:447100004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60258001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363451005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10022498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87065009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703220002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C135080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733034007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN544763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109041000119107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717155003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0496773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/103200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718211004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015147 biolink:NamedThing obsolete other syndrome with lissencephaly as a major feature tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN197489|Orphanet:102010 Editor note: consider merging ICD10:Q04.3 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class NCIT:C113750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203756 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015662 biolink:NamedThing obsolete hemorrhagic disorder due to an acquired coagulation factor defect tmpaxzxjjyw_mondo_relaxed.owl rare bleeding disorder due to an acquired coagulation factor defect|rare coagulopathy due to an acquired coagulation factor defect MONDO:outOfScope UMLS:CN226721|Orphanet:166775 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:27956007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:34521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718554005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3892049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/208300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN244563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/247630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0456483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:156005 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1709053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006168 biolink:NamedThing obsolete common hematopoietic neoplasm tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7588|EFO:1000201 Obsoleted in NCIt True https://github.com/monarch-initiative/mondo/issues/2104 owl:Class NCIT:C7588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:58557008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:187176005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17406005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/248190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:425003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/237310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN074280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019847 biolink:NamedThing obsolete congenital adrenal hypoplasia of maternal cause tmpaxzxjjyw_mondo_relaxed.owl Orphanet:95701|ICD10:E27.1 Deprecated in Orphanet. 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tmpaxzxjjyw_mondo_relaxed.owl MESH:D004402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10021245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1274173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0175778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0730295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15350006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN231446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:48142003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:424982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/121800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1561989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/127700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235623002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:50942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0520459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402881008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:65285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1304514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:91954009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56728002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class https://omim.org/entry/613958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0343060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/152450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719044008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4013949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2004576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766983005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14901003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10058097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS236680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN072436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0685121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0553647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0747273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:189427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/252320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0860251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717258005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020191 biolink:NamedThing obsolete eyebrow/eyelashes pigmentation anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98601 HP:0002226|HP:0002227 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class https://omim.org/entry/619175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015890 biolink:NamedThing obsolete rare disorder with congenital hypogonadotropic hypogonadism tmpaxzxjjyw_mondo_relaxed.owl rare disorder with secondary hypogonadism|rare disorder with hypogonadotropic hypogonadism MONDO:outOfScope Orphanet:181387 UMLS:C0271623 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C3280154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403901001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763835004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:307967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2589008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:6631009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6508 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MEDDRA:10047931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0033571 biolink:NamedThing obsolete skeletal muscle glycogen content and metabolism quantitative trait locus tmpaxzxjjyw_mondo_relaxed.owl SMGMQTL|SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS OMIM:619030 Not a disease. 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https://omim.org/phenotypicSeries/PS241550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/210200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239069005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS305100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254877001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29608009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018295 biolink:NamedThing obsolete congenital disorder of glycosylation with deafness as a major feature tmpaxzxjjyw_mondo_relaxed.owl CDG with deafness as a major feature MONDO:outOfScope Orphanet:371212 ICD10:E77.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class 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tmpaxzxjjyw_mondo_relaxed.owl NCIT:C82892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/217100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/149200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:102022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015320 biolink:NamedThing obsolete Pierre Robin syndrome associated with a chromosomal anomaly tmpaxzxjjyw_mondo_relaxed.owl out of scope MONDO:0018187 True owl:Class NCIT:C129934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2733623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87872006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:708518001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717811007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/264080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724063005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060108 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703270004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/217095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020999 biolink:NamedThing obsolete genetic chronic primary adrenal insufficiency tmpaxzxjjyw_mondo_relaxed.owl Orphanet:101960 True owl:Class DOID:13656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/305700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1710067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/217980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/218010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:330197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:362966006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/273900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715735007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403557001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404689008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019275 biolink:NamedThing obsolete other genetic epidermal disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN205922|Orphanet:79360 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:236496000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720456009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/143500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020786 biolink:NamedThing obsolete short sleep, familial natural, 2 tmpaxzxjjyw_mondo_relaxed.owl SHORT SLEEP, FAMILIAL NATURAL, 2|FNSS2 OMIM:618591 True owl:Class https://omim.org/entry/618591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/303650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0742115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:424016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/260300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2749019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018797 biolink:NamedThing obsolete genetic cardiac malformation tmpaxzxjjyw_mondo_relaxed.owl Orphanet:477805 MONDO:0005453 True https://github.com/monarch-initiative/mondo/issues/1175 owl:Class https://omim.org/entry/300943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723307008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:4921002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C88026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C0018553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92029009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015125 biolink:NamedThing obsolete rare thyroid disease Rare thyroid disease. tmpaxzxjjyw_mondo_relaxed.owl rare thyroid gland disease|rare thyroid disease MONDO:0003240 Orphanet:101955 UMLS:C0040128 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:23238000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0040099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:359804008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14852000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:182090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:265798000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/270350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/insdc/CM000678.2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/224250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/258860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D049913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717016001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0348971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0175699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237913008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019295 biolink:NamedThing obsolete other dermis disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021154 True owl:Class DOID:0111383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87819007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/161470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725050005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363518003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1414017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:711403001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10011385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719047001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10046851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:53689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239873007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4531264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:48573006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27052006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:50 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/129400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D057792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74942003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:85750001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62377009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS277180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:709282004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:281103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/114700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/107100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0860580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721161005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS136520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:325524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92241005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3281137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:11027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class https://omim.org/entry/609222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61598006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:281190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/184000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:195182007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:31142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/191800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7425008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126896003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35919005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:435603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:10128002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2707005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:697970009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/233100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:439202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68478007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11934000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:274144001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS183600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044245 biolink:NamedThing obsolete nailbeds, pigmentation of tmpaxzxjjyw_mondo_relaxed.owl NAILBEDS, pigmentation OF OMIM:161100 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/161100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D050379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79118000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/177650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10021198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016133 biolink:NamedThing obsolete rare hereditary metabolic disease with peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:207018|UMLS:CN200897 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:556985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024544 biolink:NamedThing obsolete Heimler syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl peroxisome biogenesis disorder 1C|hearing loss, sensorineural, with enamel hypoplasia and nail defects|HEIMLER syndrome 1|HMLR1 out of scope OMIM:234580|UMLS:C1856186|Orphanet:3220|DOID:0080623 MONDO:0100259 True https://github.com/monarch-initiative/mondo/issues/3222 owl:Class DOID:0080623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234146006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237996001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C82429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:85649008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019099 biolink:NamedThing obsolete rare soft tissue tumor Any of the forms of soft tissue neoplasm that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare soft tissue neoplasm|rare mesenchymal tumor MONDO:0006424 Orphanet:71209 UMLS:C0037579 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:71209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3896578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3887596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10024373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018409 biolink:NamedThing obsolete rare genetic disorder with obstructive azoospermia tmpaxzxjjyw_mondo_relaxed.owl rare genetic disorder due to impaired sperm transport MONDO:outOfScope Orphanet:400003|UMLS:CN227352 Editor note: unclear how this is distinguished from parent; sib is Congenital bilateral absence of vas deferens True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN227352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C28079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C74985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18085000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:186973005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403986008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721232000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1520091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31053003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/161400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230493001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/255125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015888 biolink:NamedThing obsolete other rare diabetes mellitus tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226773|Orphanet:181381 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class ORPHA:181381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/248340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:33110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:700211007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55602000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0021775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79353000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1285186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720521008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7810004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015507 biolink:NamedThing obsolete rare genetic hepatic disease Rare genetic liver disease. tmpaxzxjjyw_mondo_relaxed.owl rare genetic liver disease MONDO:0005154 UMLS:CN199640|Orphanet:156601 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C7779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS118450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10053185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/120970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49107007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:43752006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/251750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54336006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240059009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/151200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:312912001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C142804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41841004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0585362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715401008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:444048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0496814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:447954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:43647007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:37373007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763273008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/307200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0040092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9826008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/169550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715470008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764734003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044229 biolink:NamedThing obsolete epiblepharon of lower 51d tmpaxzxjjyw_mondo_relaxed.owl epiblepharon of lower lid OMIM:131450 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/131450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS608805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:195295006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D046788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044282 biolink:NamedThing obsolete blood group, vel system The Vel blood group system is defined by the presence of the Vel antigen on red blood cells. Vel is a high frequency antigen that shows variable strength, ranging from strong to weak. The rare Vel-negative blood type is inherited as an autosomal recessive trait and is typically unveiled when Vel-negative individuals develop anti-Vel antibodies after transfusion or pregnancy; Vel alloantibodies are never 'naturally occurring.' Individuals with anti-Vel antibodies may develop severe acute hemolytic transfusion reactions when transfused with Vel-positive blood. Individuals negative for the Vel antigen are rare and are required for the safe transfusion of patients with antibodies to Vel (summary by {3:Daniels, 2002}; {5:Storry et al., 2013}; {2:Cvejic et al., 2013}; {1:Ballif et al., 2013}). tmpaxzxjjyw_mondo_relaxed.owl Vel-null phenotype|VEL|blood group, VEL system OMIM:615264 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/615264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92660005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:278065000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724841000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN221565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C101223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007678 biolink:NamedThing obsolete glycoprotein, renal tmpaxzxjjyw_mondo_relaxed.owl glycoprotein, renal OMIM:138710 This is an electrophetic finding and not a disease. True https://github.com/monarch-initiative/mondo/issues/2245 owl:Class https://omim.org/entry/138710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404069006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:53599007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3839212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:12957008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:768926005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10022703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:364559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:425740005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:290842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1959632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:420179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/189000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN248786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C168771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3640999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240880004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/155000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:397596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:71267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:252028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/183900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/187050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4275006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254847007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:35301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MESH:C536870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/218800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/108725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10029271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007386 biolink:NamedThing obsolete human coronavirus sensitivity tmpaxzxjjyw_mondo_relaxed.owl human coronavirus sensitivity|Coronavirus 229E susceptibility|HCVS OMIM:122460 True owl:Class https://omim.org/entry/122460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0476122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363358000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017661 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C535791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/193250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/131705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763069002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:372104008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN180200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2827362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/221300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/308280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000803 biolink:NamedThing obsolete tiger prawn allergy A allergy involving a Penaeus monodon. tmpaxzxjjyw_mondo_relaxed.owl Penaeus monodon allergy|allergy of 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https://omim.org/entry/607016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:357008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0519063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:23686004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721087008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47597000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:398058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C37265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723820001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:417441005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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endogenous substances. tmpaxzxjjyw_mondo_relaxed.owl out of scope UMLS:C0028715|ICD10:E00.E90|MESH:D009750 Editor note: consider expanding to include endocrine MONDO:0005137|MONDO:0005066 True https://github.com/monarch-initiative/mondo/issues/3157 owl:Class UMLS:C0028715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276804009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:609618002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS220110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:385483009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:270492004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:187841006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C163755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS102300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719158007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399029005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724274009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4275145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019749 biolink:NamedThing obsolete rare renal tumor Any of the forms of kidney neoplasm that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare kidney neoplasm MONDO:0021163 Orphanet:93619 UMLS:C0022665 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/301058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719584008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10051316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:412181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017539 biolink:NamedThing obsolete postaxial polydactyly of toes, unilateral tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q69.2|Orphanet:295179 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70558001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:309084001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10011089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4284595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0887833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83728000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1443228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89420002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018721 biolink:NamedThing obsolete rare combined vascular malformation tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:458837|UMLS:CN242069 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:609515005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:397606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237657009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#historic_epidemic biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl classes representing a historic epidemic owl:AnnotationProperty SNOMEDCT:92069005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56038003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D021865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0521573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013701 biolink:NamedThing obsolete MRT32 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016396 OMIM:614339 Obsoleted in OMIM. True https://github.com/monarch-initiative/mondo/issues/1708 owl:Class https://omim.org/entry/614339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C53656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4284594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:158008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:67247008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0205969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128108002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/190420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:6121001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10022764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/179010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/238800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D034081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63144007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044980 biolink:NamedThing obsolete disease of signal transduction tmpaxzxjjyw_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class https://omim.org/entry/606772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237113009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10005001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254989000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:441574008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240451000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D063730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725103004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1735591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10011692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/131750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/193003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:488586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10056892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/142340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:20842008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10041307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716588005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:448227009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88220006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C168658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C4310646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C000596385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10038916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0409974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721014007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10054064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:776009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:502444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10059547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:23360000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:129636003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN240507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/254200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/108450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2749665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:70482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4085238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/136760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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ORPHA:480553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3550273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C28155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/125440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:69028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C87084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239062001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:158769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715950008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1504369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/191150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49817004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726021008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:56304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018404 biolink:NamedThing obsolete rare genetic male infertility Rare genetic male infertility. tmpaxzxjjyw_mondo_relaxed.owl rare genetic male infertility MONDO:0005372 Orphanet:399980|UMLS:CN227349 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN200530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C37866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4275172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS305400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61794006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/271960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363469001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018388 biolink:NamedThing obsolete rare male infertility due to testicular endocrine disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:399685|UMLS:CN227336 ICD10:N46 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:251332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:405737000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:416669000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:193576003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/133900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9527009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:267440005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN032489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015918 biolink:NamedThing obsolete rare neurodegenerative disease Rare neurodegenerative disease. tmpaxzxjjyw_mondo_relaxed.owl rare neurodegenerative disease MONDO:0005559 Orphanet:182070 UMLS:C0524851 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:182070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/102200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0030016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C3280856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:182117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:423158009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235494005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/551000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/112600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:431347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72047008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49434001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254876005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723496007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9660004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716338001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007347 biolink:NamedThing obsolete Coxsackievirus B3 susceptibility tmpaxzxjjyw_mondo_relaxed.owl Coxsackievirus B3 susceptibility|CXB3S|Cb3S UMLS:C1861511|OMIM:120050 obsoleted as it represents a susceptibility not a disease True owl:Class UMLS:C1861511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C120083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31384009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128083007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721873007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253904001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/161000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74561007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C53649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:77 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:30391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:25569003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/174810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2986622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:186781003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:221074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1305924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1648002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/202150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1520093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1112570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403770008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:481986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:6331000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237038001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0343714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236071009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:26436007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C101334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764861005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019049 biolink:NamedThing obsolete rare dystonia Rare dystonia. tmpaxzxjjyw_mondo_relaxed.owl rare dystonia (disease)|rare dystonic disorder|rare dystonia MONDO:0003441 Orphanet:68363 UMLS:C0393593 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:230283005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4024960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111534007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS193500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/163000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1321870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92384009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:409664000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4289586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/267400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28681006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/100200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77659000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/265800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015319 biolink:NamedThing obsolete rare disease with Pierre Robin syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN199290|Orphanet:138044 UMLS:C0031900 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/619093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10050053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2062388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/119580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:734026006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C117112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240104008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92238001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN321864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230687001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D030321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/158310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/112270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5724005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10016193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS188580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60812006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005196 biolink:NamedThing obsolete teratozoospermia Presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends tmpaxzxjjyw_mondo_relaxed.owl MP:0005578|UMLS:C0403824|EFO:0002625|SCTID:236817003 This is a finding. HP:0012864 True https://github.com/monarch-initiative/mondo/issues/1786 owl:Class SNOMEDCT:236817003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10039603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C120084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:450005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722110003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205681004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55821006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/309350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10062547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1812609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS191100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238091006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10012780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:285657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS148210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:189815007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707441009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/mucoepidermoid_carcinoma.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:529665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83 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tmpaxzxjjyw_mondo_relaxed.owl DOID:0110375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0699791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:494424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:91637004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:127057004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/consequence_of_infectious_disease.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733111000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/176780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:108979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:23205009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/177200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015673 biolink:NamedThing obsolete rare cardiac tumor Any of the forms of heart neoplasm that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare heart neoplasm MONDO:0021209 Orphanet:168194 UMLS:C0018809 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C2750068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1956089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:459074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78373000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:502423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10037596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716708005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:357175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:495875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718717004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75023009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55608001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019936 biolink:NamedThing obsolete rare otorhinolaryngological malformation tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:96333|UMLS:CN227722 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0948967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:156601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78275009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0878544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399995006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0277045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:269008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS619115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000780 biolink:NamedThing obsolete apricot allergy A allergy involving a Prunus armeniaca. tmpaxzxjjyw_mondo_relaxed.owl allergy of Prunus armeniaca|Prunus armeniaca fruit allergy|Prunus armeniaca allergic disease|Prunus armeniaca caused allergic disease MONDO:outOfScope DOID:0060505 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/140350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715748006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/217150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1291620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1510784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41659003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0175691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS175780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/153100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720523006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:3928002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10037450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/191390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D048090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:120639003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011543 biolink:NamedThing obsolete BRCA3 tmpaxzxjjyw_mondo_relaxed.owl breast cancer 3|moved to 114480|Brcax|BRCA3 OMIM:605365|MESH:C565336|Orphanet:227535|UMLS:C1854365 See https://omim.org/entry/114480 MONDO:0016419 True https://github.com/monarch-initiative/mondo/issues/1700 owl:Class MESH:C565336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C43590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1260911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733625003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10042335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1520081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:401303003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/184250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D039941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0475811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:82319005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0473554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716090004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3275487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:472905007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1276801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:36297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1263847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/252700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/241520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:711154007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:118601006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:80960004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10051643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:165955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:423294001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:102724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703268008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/125460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50921008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:104005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763346009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015143 biolink:NamedThing obsolete rare movement disorder Rare movement disorder. tmpaxzxjjyw_mondo_relaxed.owl rare movement disorder MONDO:0005395 Orphanet:102003 UMLS:C0026650 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:226310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:443062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C127170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1709353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2972007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10002449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84209002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49601007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95320005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/192350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/272300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4302878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10044686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237614004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS260400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0392662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/305550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:307608006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C19988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021037 biolink:NamedThing obsolete genetic neurodegenerative disease with dementia An instance of neurodegenerative disease with dementia that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl genetic neurodegenerative disease with dementia UMLS:CN202589|Orphanet:276058 Dementia should be a feature, not a superclass. MONDO:0024237 True https://github.com/monarch-initiative/mondo/issues/1954 owl:Class UMLS:CN202589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33793000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763718009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/204870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62110005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718766002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/124400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:519408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/137050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722064003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0036491 biolink:NamedThing obsolete rare childhood malignant neoplasm An infrequent malignant neoplasm that occurs during childhood. tmpaxzxjjyw_mondo_relaxed.owl rare malignant childhood neoplasm|rare childhood malignant neoplasm|Rare malignant neoplasm|rare childhood cancer MONDO:0006517 NCIT:C114451|UMLS:C3828369 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C3828369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:30924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60750009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4302195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703527003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7826003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726347008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/148600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:297009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0040098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C159116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MESH:D010264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766238001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10038907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/115196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:194437008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:307773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:68336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0585475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235110008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015502 biolink:NamedThing obsolete pinnae and external auditory canal anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:156243 True owl:Class ORPHA:156243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717943008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:200284000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11938002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10020853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79604008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010582 biolink:NamedThing obsolete diabetes insipidus, neurohypophyseal type, X-linked inheritance tmpaxzxjjyw_mondo_relaxed.owl diabetes insipidus, neurohypophyseal type UMLS:CN074293|Orphanet:178029|OMIM:304900|Orphanet:30925 The latest evidence for the existence of this form of this disease is from 1967, and was weak. From OMIM: "The evidence for an X-linked form of neurohypophyseal diabetes insipidus, responsive to treatment with antidiuretic hormone is weak." True https://github.com/monarch-initiative/mondo/pull/1914 owl:Class UMLS:CN074293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399252000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015245 biolink:NamedThing obsolete rare intestinal disease Rare intestinal disease. tmpaxzxjjyw_mondo_relaxed.owl rare intestinal disease MONDO:0005020 Orphanet:117569 UMLS:C0021831 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C26898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73399005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C101304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235049008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126884005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190293001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/132990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:448015002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/200130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10036832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111504002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C548069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:102010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018753 biolink:NamedThing obsolete rare disease with malignant hyperthermia tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN242072|Orphanet:466658 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:719103009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS157640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238853007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:250984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10030308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C171603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:221117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:405950009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83157008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/270950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/102350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10023441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:37295009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/181010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:404481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0021099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302855005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/210000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/123100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1263900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725029001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C168764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764097002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83664006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:10624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class SNOMEDCT:2391001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79883001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41446000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230724001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721310007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/185070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:227535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:398554008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715725001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/135900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2746066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763376002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363465007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930937 biolink:NamedThing 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SNOMEDCT:47757001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/265000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018972 biolink:NamedThing obsolete rare epithelial tumor of stomach tmpaxzxjjyw_mondo_relaxed.owl rare gastric epithelial tumor MONDO:outOfScope UMLS:CN235187|Orphanet:63443 MedDRA:10017758|UMLS:C0024623 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN235187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:232058008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238731001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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owl:Class https://github.com/monarch-initiative/mondo/issues/3575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0750384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017371 biolink:NamedThing obsolete rare head and neck tumor Rare head and neck neoplasia. tmpaxzxjjyw_mondo_relaxed.owl rare head and neck neoplasm|rare head and neck neoplasia MONDO:0005586 Orphanet:290849 UMLS:C0018671 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:10619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C80083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/210745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/162600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261956 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715369006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45431004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:158676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702346005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722033000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/193005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C68677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719651000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0887846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/308830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:46484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57809008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009535 biolink:NamedThing obsolete lymphedema, congenital recessive tmpaxzxjjyw_mondo_relaxed.owl lymphedema, congenital recessive out of scope Orphanet:79452|UMLS:C1855475|OMIM:247440|MESH:C565432 Obsoleted in OMIM. 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#mostly_harmless biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl condition has no severe phenotypes and is harmless or mostly harmless owl:AnnotationProperty DOID:10754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38023001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C74995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10052073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C121198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:123976001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:732954002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C29888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1513364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1282977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:471268000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9434008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:297226004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52179003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl MESH:D000069281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33958003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:281562007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1302363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4275164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724177005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3463897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/200400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715524004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS266900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0473219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38898003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1337013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:398100001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238068007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/259900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS128200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237268002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020198 biolink:NamedThing obsolete rare conjunctival disease Rare conjunctival disease. tmpaxzxjjyw_mondo_relaxed.owl rare conjunctival disease MONDO:0002932 Orphanet:98610 UMLS:C0009759 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:397428000 biolink:NamedThing 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https://omim.org/entry/600679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9740002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74969002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4540496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14785004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000068099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:66629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0496826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10062113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59252009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4321305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0854971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723999009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C66758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/251100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044279 biolink:NamedThing obsolete bone mineral density quantitative trait locus 15 tmpaxzxjjyw_mondo_relaxed.owl bone mineral density quantitative trait locus 15|BMND15|compression fracture, susceptibility to|osteoporosis, susceptibility to|metaphyseal fracture, susceptibility to OMIM:613418 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/613418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:197441003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766053003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363450006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4305347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0376620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:711152006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:430886005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:91861009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70933002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020141 biolink:NamedThing obsolete infectious disease with dementia tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207022|Orphanet:98542 Dementia should be a feature, not a superclass. MONDO:0005550 True https://github.com/monarch-initiative/mondo/issues/1954 owl:Class NCIT:C103917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:406476007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0520947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52403007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/274400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:37246009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/227150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0848548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239910001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:232057003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725415009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237964009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/113301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/136830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703526007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/246900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/191250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723557004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399912005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63247009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716722005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/160570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77358003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:4359001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:32895009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:447782002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019304 biolink:NamedThing obsolete rare photodermatosis tmpaxzxjjyw_mondo_relaxed.owl rare skin photosensitivity MONDO:outOfScope Orphanet:79390|UMLS:C0920193 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C7925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2825741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0151544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:156230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1306557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10006041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/188890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4054526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254848002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/311300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HP:0040077 biolink:NamedThing obsolete Abnormal concentration of calcium in blood tmpaxzxjjyw_mondo_relaxed.owl HP:0004363 True human_phenotype owl:Class UMLS:C1858379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:485418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:488613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230693009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C82342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:266556005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:67406007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3698136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1378340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:481665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN029606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721713007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C1848087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126966009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126634001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0878677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:397959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/135800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:6595006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:53808001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN118826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:482601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254939008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:276608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:193982009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:423894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN349871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016212 biolink:NamedThing obsolete cyclosporosis tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0005725 True https://github.com/monarch-initiative/mondo/issues/3694 owl:Class UMLS:C0014736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN034406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277918006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:179490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:519392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0178426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0282687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/226990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41142009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403820003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019894 biolink:NamedThing obsolete non-distal monosomy 7p tmpaxzxjjyw_mondo_relaxed.owl non-distal deletion 7p|non-distal monosomy type 7p|non-telomeric monosomy 7p ICD10:Q93.5|Orphanet:96136 Obsolete in Orphanet MONDO:0016889 True owl:Class ORPHA:96136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/202355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:732245008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:444921008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763135001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/insdc/CM000684.2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49455004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:448670003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:300932000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10003446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0016978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:156237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42530008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:39427000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:124267007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:735082004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725058003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018401 biolink:NamedThing obsolete female infertility due to an anomaly of ovarian function tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:399853|UMLS:CN227347 ICD10:N97.0 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:716775009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/271310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10063435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:67254002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722476007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0860168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/249600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724344004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723332005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:221150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46804001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:12704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0475271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C53958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111502003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720750004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70385007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36803009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/201300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN232319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001445 biolink:NamedThing obsolete neurogenic bladder Malfunctioning urinary bladder due to central nervous system disorders or damage to the peripheral nerves that are involved in the control of urination. Causes include spinal cord injuries, neural tube defects, brain tumors, strokes, and peripheral neuropathies (e.g., AIDS neuropathy and diabetic neuropathy). tmpaxzxjjyw_mondo_relaxed.owl neurogenic urinary bladder disorder|obsolete neurogenic bladder (disease)|neuropathic bladder|neurogenic bladder|neurogenic dysfunction of the urinary bladder obsolete neurogenic bladder (disease) HP:0000011|DOID:12143|MESH:D001750|NCIT:C79696|SCTID:398064005|UMLS:C0005697|ICD9:596.54 HP:0000011 True https://github.com/monarch-initiative/mondo/issues/974 owl:Class SNOMEDCT:398064005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/270450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:252183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363446004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015955 biolink:NamedThing obsolete rare genetic epilepsy A form of epilepsy that is both rare and inborn. tmpaxzxjjyw_mondo_relaxed.owl rare genetic epilepsy MONDO:0005027 Orphanet:183512|UMLS:CN226802 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C34817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403970001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766883006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1609538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764456001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47523006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2748918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719597005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253967005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81463002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015968 biolink:NamedThing obsolete rare genetic hypothalamic or pituitary disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN200567|Orphanet:183628 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:183628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63103006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018387 biolink:NamedThing obsolete rare male infertility due to adrenal disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN227335|Orphanet:399584 ICD10:N46 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/180860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1319317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:69076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0729777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84759007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0541719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:26349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN737162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:305719002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95414005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002144 biolink:NamedThing obsolete hyperuricemia tmpaxzxjjyw_mondo_relaxed.owl obsolete hyperuricemia (disease)|uricacidemia|hyperuricemia|blood urate raized obsolete hyperuricemia (disease) HP:0002149 ICD9:790.6|EFO:0009104|UMLS:C0740394|DOID:1920|NCIT:C3961|MESH:D033461|SCTID:35885006 True owl:Class SNOMEDCT:35885006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:359729006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4275180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7881005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015172 biolink:NamedThing obsolete epithelio-exfoliative colitis-deafness syndrome This syndrome is characterised by the association of severe congenital colitis with sensorineural deafness. tmpaxzxjjyw_mondo_relaxed.owl Orphanet:103912|UMLS:CN226615|ICD10:P78.3 Obsolete in Orphanet True owl:Class UMLS:CN226615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:312132001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:32612005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/165550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17901006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:732263008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10056916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D045724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS206100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4275141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C132224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1517154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0686619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13795004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719266007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:529977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044234 biolink:NamedThing obsolete hrm2 tmpaxzxjjyw_mondo_relaxed.owl hair morphology 2|curly hair|hair curvature, variation 1N|HRM2 OMIM:139450 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/139450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:371089000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1569637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:423590009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/102900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60876000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92263001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404037002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702318008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C41245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10020376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0396072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:73 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722375007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:204312002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:220443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1321547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4540327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:191480000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/120300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:36382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/108420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0333992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10047650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/insdc/CM000680.2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:156249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2699572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:197321007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702432006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92503002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:85638002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:71779008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126858004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:422470007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10035653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/313490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36171008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/219080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:64613007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:48124008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015078 biolink:NamedThing obsolete gastroenteropancreatic neuroendocrine neoplasm tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024503 True owl:Class https://omim.org/entry/191900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1112437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D031368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719843001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:266368002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10001616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/109100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:53697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1279412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN317535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/259730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/260570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/176920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:269476000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2981712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020031 biolink:NamedThing obsolete rare tumor Rare disease of cellular proliferation. tmpaxzxjjyw_mondo_relaxed.owl rare neoplasm|rare disease of cellular proliferation|rare neoplasm (disease) MONDO:0005070 Orphanet:98057 UMLS:C0375111 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C2717865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363444001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D063926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:119422004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014763 biolink:NamedThing obsolete Bombay phenotype tmpaxzxjjyw_mondo_relaxed.owl para-Bombay phenotype|Reunion variant out of scope OMIM:616754 True https://github.com/monarch-initiative/mondo/issues/2942 owl:Class https://omim.org/entry/616754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C43295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020871 biolink:NamedThing obsolete name syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015285 Orphanet:623 True owl:Class ORPHA:623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703254001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0854917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/240600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D059268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725903003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:372244006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015226 biolink:NamedThing obsolete syndrome with limb malformations as a major feature tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:109009|UMLS:CN197565 ICD10:Q87.2 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class SNOMEDCT:711480000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4511138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59898000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230330004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/248260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:hp.obo#secondary_consequence biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty DOID:0111026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/164400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/102500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:438207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:418304008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36188001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C580241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D050798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1641846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1321865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721013001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:458422009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:267403002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:404514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:315345002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D055958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/261575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:438216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10000347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4540367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3665365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2435008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205834002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29570005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:276238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399244003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/105200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1264041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/175200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:48245008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS116200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4512054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0743086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1708174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/242670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:480898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/191480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS610448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/161700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19311003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615945 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36742000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:411703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/303400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4540265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:60026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C150368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614296 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS609322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719946008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009410 biolink:NamedThing obsolete Addison disease tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0015129 True https://github.com/monarch-initiative/mondo/issues/1218 owl:Class UMLS:CN204081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C105595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017957 biolink:NamedThing obsolete unclassified autoinflammatory syndrome tmpaxzxjjyw_mondo_relaxed.owl out of scope Orphanet:324936|UMLS:CN204103 MONDO:0019751 True owl:Class https://omim.org/entry/607259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1377912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235825006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:167759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:436242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87224000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66931009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0574084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016767 biolink:NamedThing obsolete cutaneous lichen planus tmpaxzxjjyw_mondo_relaxed.owl rare cutaneous LP|rare cutaneous lichen planus out of scope Orphanet:254370|ICD10:L66.1|ICD10:L43.9|ICD10:L43.0|ICD10:L43.2|ICD10:L43.1|UMLS:CN226995|ICD10:L43.8|ICD10:L43.3 MONDO:0006572 True 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN240636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57130002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:397964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060560 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https://github.com/monarch-initiative/mondo/issues/3847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234140000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/125050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019043 biolink:NamedThing obsolete rare genetic skin disease tmpaxzxjjyw_mondo_relaxed.owl rare genodermatosis MONDO:0005093 Orphanet:68346 UMLS:C0037277 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN205000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719836007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95637005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:60040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0021345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233763009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254199006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:435365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:768667002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:496756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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NCIT:C39947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:418818005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:31827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:198253003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13468005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:300916003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:46724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020094 biolink:NamedThing obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature Autosomal dominant form of disease with diffuse palmoplantar keratoderma as a major feature. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature|disease with diffuse palmoplantar keratoderma as a major feature, autosomal dominant MONDO:outOfScope UMLS:CN206998|Orphanet:98352 ICD10:Q82.8 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class UMLS:CN206998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018040 biolink:NamedThing obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells tmpaxzxjjyw_mondo_relaxed.owl Orphanet:331240 This is a grouping class from Orphanet that only had a single child, and was undefined. MONDO_0003947 True https://github.com/monarch-initiative/mondo/issues/1667 owl:Class ORPHA:331240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0582885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3501848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C159413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty NCIT:C128386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044254 biolink:NamedThing obsolete dermatoglyphics--hypothenar radial arch tmpaxzxjjyw_mondo_relaxed.owl dermatoglyphics--hypothenar radial arch OMIM:221780 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/221780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019298 biolink:NamedThing obsolete rare urticaria Rare urticaria. tmpaxzxjjyw_mondo_relaxed.owl rare hives|rare urticaria (disease)|rare urticaria MONDO:0005492 Orphanet:79384 This class may be obsoleted in future. Note that ORDO classifies this as rare allergic disease, but urticara may be autoimmune UMLS:C0042109 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:42775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/106260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C121656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:430042004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS277600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254820002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4076194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:840539006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0879257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3642347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1290159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/123050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D065632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702365002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78590007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/259100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230552007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C37997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14783006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C80373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:498497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:53372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000834 biolink:NamedThing obsolete bone deterioration disease A bone structure disease that results in change or damage of structure located in bone. tmpaxzxjjyw_mondo_relaxed.owl DOID:0080007 This term is out of scope for Mondo. True https://github.com/monarch-initiative/mondo/issues/503 owl:Class MESH:D004342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42658009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42265009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:165655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10043540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/133700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95218005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C117115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:367462009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0853695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0545080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:386762009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3281089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254878006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72965009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/248800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:CN207195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:24790002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:417006004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240761008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/219000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10018340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126839008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C38012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/115700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0033847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:94093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:307816004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/247640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0151744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020185 biolink:NamedThing obsolete eyebrow/eyelashes hypertrichosis tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98595|ICD10:L68.2 True https://github.com/monarch-initiative/mondo/issues/1501 owl:Class ORPHA:98595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C101038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:488280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016665 biolink:NamedThing obsolete unclassified vasculitis tmpaxzxjjyw_mondo_relaxed.owl out of scope ICD10:M31.8|Orphanet:251328 MONDO:0018882 True owl:Class ORPHA:251328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044242 biolink:NamedThing obsolete mydriasis, congenital tmpaxzxjjyw_mondo_relaxed.owl mydriasis, congenital OMIM:159420 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/159420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:84087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:197352008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109844006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18690003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238840009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN252654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715219001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92824003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/302600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015139 biolink:NamedThing obsolete rare epilepsy Rare epilepsy. tmpaxzxjjyw_mondo_relaxed.owl rare epilepsy MONDO:0005027 Orphanet:101998|UMLS:CN244924 ICD10:G40.3|ICD10:G40.7|ICD10:G40.0|UMLS:C0014544|ICD10:G40.1|ICD10:G40.4|ICD10:G40.2|ICD10:G40.8|ICD10:G40.9|ICD10:G40.5|ICD10:G40.6 True 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN236663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715674008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721307000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/131375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10000523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C66756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Arabidopsis biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MEDDRA:10027249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN240755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721220004 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN035858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/187750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015162 biolink:NamedThing obsolete rare syndromic intellectual disability Rare syndromic intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl rare syndromic intellectual disability MONDO:0000508 UMLS:CN226611|Orphanet:102369 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C7113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4024851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MESH:D011546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C38778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/312000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10072077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/106230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:711155008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:371195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46619002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715577009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1145670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0016514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:387891008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:123609007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111386004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:410801005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31978002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:80711002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253402005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562742 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52636001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:499004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3890167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565991 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SNOMEDCT:238676008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0205721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:505216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/253200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235853006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:68402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88697005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/200500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/251400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:409663006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/190430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10061784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726543008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/169100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019750 biolink:NamedThing obsolete rare renal disease Any of the forms of urinary system disease that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare urinary system disease|rare kidney disease MONDO:0005240 UMLS:CN206681|Orphanet:93626 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019116 biolink:NamedThing obsolete catecholamine-producing tumor Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205637|Orphanet:717 Orphanet obsoleted this MONDO:0021072|MONDO:0015077 True https://github.com/monarch-initiative/mondo/issues/2199 owl:Class ORPHA:717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722459008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10034875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/insdc/CM000668.2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719045009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN119421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3159311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5300004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0586989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C130043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/560000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:446923008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188219004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400204000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:330001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016633 biolink:NamedThing obsolete thrombotic disorder due to a constitutional coagulation factors defect tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226983|Orphanet:248361 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCBITaxon:29258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C1832379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717823001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020016 biolink:NamedThing obsolete rare neurologic disease with psychiatric involvement tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN206949|Orphanet:98033 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:217598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044271 biolink:NamedThing obsolete bone mineral density quantitative trait locus 1 tmpaxzxjjyw_mondo_relaxed.owl high bone Mass|bone mineral density quantitative trait locus 1|BMND1|osteoporosis, susceptibility to OMIM:601884 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/601884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1304205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:439762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C142802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3536797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718614004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/312840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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MESH:C564399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN679647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:424279009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234062003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020784 biolink:NamedThing obsolete short sleep, familial natural, 1 tmpaxzxjjyw_mondo_relaxed.owl FNSS1|Short Sleep Phenotype|SHORT SLEEP, FAMILIAL NATURAL, 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61974008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:243761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:435561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764990003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015192 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0917890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403977003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0234978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:447964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C80078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3203657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D053579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/113800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:325537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:447764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:22567005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3642346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10025406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015560 biolink:NamedThing obsolete classic mast cell leukemia tmpaxzxjjyw_mondo_relaxed.owl ICD10:C94.3|Orphanet:158796 obsoleted in Orphanet MONDO:0020334 True https://github.com/monarch-initiative/mondo/issues/2137 owl:Class ORPHA:158796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:53622003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:90739004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:80141007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C124070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/122200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0409999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10029377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765136002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60573004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:64678009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D057129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87380008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0585266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722456001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:35268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class NCBITaxon:2583835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:69063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277155005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:734045002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277523004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95883001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:90688005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50799005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0546996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0281784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721881008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1263724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0917799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:64747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4511958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/270700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:37705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:280785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016320 biolink:NamedThing obsolete rare hereditary thrombophilia tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:C2584620|Orphanet:217454 ICD10:D68.5 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:3088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://robot.obolibrary.org/reason biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:64742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238104009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:69980003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015119 biolink:NamedThing obsolete bronchopulmonary tumor tmpaxzxjjyw_mondo_relaxed.owl rare bronchopulmonary tumor out of scope UMLS:CN197476|Orphanet:101945 MONDO:0020641 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/3456 owl:Class UMLS:CN197476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2749757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:478042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10024500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/173650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:34417008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403760006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1997910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60086000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:63275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018545 biolink:NamedThing obsolete primary immunodeficiency with predisposition to severe viral infection tmpaxzxjjyw_mondo_relaxed.owl Orphanet:431156 True owl:Class DOID:3016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:408645001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763311001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51254007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81771002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10023492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1304511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68241007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:398156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111407006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN035788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/239800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56317004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D047868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016138 biolink:NamedThing obsolete malignant lymphoma with peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:207046 True owl:Class UMLS:C1857800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/308240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:88659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:32 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50490005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/186890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/224050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0012424 biolink:NamedThing obsolete heat-shock RNA 1 tmpaxzxjjyw_mondo_relaxed.owl Hsr1|heat-shock RNA 1|heat-shock RNA type 1 OMIM:610157 This is a gene, not a disease. True https://github.com/monarch-initiative/mondo/issues/1452 owl:Class https://omim.org/entry/610157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:48069004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C79950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77547008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:43878008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:71011005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0005750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1306247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:86997002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/112440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C142083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38281008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27312002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10036051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS115210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716233007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72779005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:63454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/184400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:506353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011794 biolink:NamedThing obsolete Dravet syndrome Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100135 ICD10:G40.4|Orphanet:33069|OMIM:615744|OMIM:612164 This is a distinct class from MONDO:0100079 epileptic encephalopathy, early infantile 6. See https://github.com/monarch-initiative/mondo/issues/745 True owl:Class ORPHA:33069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015578 biolink:NamedThing obsolete rare mycosis Rare fungal infectious disease. tmpaxzxjjyw_mondo_relaxed.owl rare fungal infectious disease MONDO:0002041 Orphanet:163591 UMLS:C0026946 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1867056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31798004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:177929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68633000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255039001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10041736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0545044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/253010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4273673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254838004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008574 biolink:NamedThing obsolete Tl antigen tmpaxzxjjyw_mondo_relaxed.owl Tl antigen|histocompatibility 2, T-region locus 18|Thymus leukemia antigen OMIM:188850 True owl:Class https://omim.org/entry/188850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27550009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0740441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33839006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0016751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/110150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:422338006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:108977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:201128002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726733007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3854478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50855007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015916 biolink:NamedThing obsolete rare neuroinflammatory or neuroimmunological disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:182064|UMLS:CN200514 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1263995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:589618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276533002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/158500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/172850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126926005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716198008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399882002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9893005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS147950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN671931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/263540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/260600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/177820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38739001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720604008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:84271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716652006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1282983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:449821007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/166250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93162007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92408009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3900122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C580458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0340304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C37256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2700007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:506090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/262600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:227859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C0009769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/208050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D049288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:502 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/274500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10002947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:71272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/260900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2748586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C79545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:312381009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#do_inheritance_inconsistent biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl classes where the corresponding DO term is both AR and AD https://github.com/monarch-initiative/monarch-disease-ontology/issues/406 owl:AnnotationProperty https://omim.org/entry/157900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN118845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92691004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78622004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87837008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/101600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10020614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:211252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:124646004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:398040009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/113500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:8229003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:430478003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:230857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:129620000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2749873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:495818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70764005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/166450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0684337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:353281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:572385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10029982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:22542007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/254800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000772 biolink:NamedThing obsolete pollen allergy A allergy involving pollen. tmpaxzxjjyw_mondo_relaxed.owl allergy of pollen|pollen allergic disease MONDO:outOfScope DOID:0060497 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718104007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0855163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0235640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719254001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/178000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#reference biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty https://omim.org/entry/619151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0041440 biolink:NamedThing obsolete functional visual loss tmpaxzxjjyw_mondo_relaxed.owl nonphysiologic acuity loss|nonphysiologic vision loss|functional visual loss UMLS:C0730512|SCTID:313165001 True owl:Class SNOMEDCT:313165001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302858007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:127041004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:63273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/230800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/161480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255096006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019252 biolink:NamedThing obsolete other metabolic disease with skin involvement tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN205838|Orphanet:79217 Editor note: consider merging True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class SNOMEDCT:191950004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C111694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C38151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:226295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718687003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/193070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:84132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3275495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190817009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C127162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:508529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015116 biolink:NamedThing obsolete rare biliary tract disease Rare biliary tract disease. tmpaxzxjjyw_mondo_relaxed.owl rare biliary tract disease MONDO:0004868 UMLS:CN197473|Orphanet:101941 UMLS:C0005424|UMLS:C0750952 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:101941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715343000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254859006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1259003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722947004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D053360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0021933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253772005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81678004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19442009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:232003005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1290872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35247001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/153670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:88993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/170650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190279008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0262493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/304340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/264350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:84093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:417996009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45261009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35984006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4302263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/219100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763536006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1674008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:94056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:708090002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702356009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0853394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89000008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:389165004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19044004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720983002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209956 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3161106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1135873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022200 biolink:NamedThing obsolete treatment for disease tmpaxzxjjyw_mondo_relaxed.owl out of scope This modifier will be obsoleted in favor of MAO. Reason: out of scope. Term to consider: MAXO:0000002. MAXO:0000002 True owl:Class https://github.com/monarch-initiative/mondo/issues/3981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277508009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10070535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044278 biolink:NamedThing obsolete short sleeper In a review of various classification schemes for sleep disorders, {2:Thorpy (1990)} listed 'short sleeper' under the broad category of 'disorders of initiating and maintaining sleep' (DIMS); however, the short sleeper phenotype or trait is not considered a sleep disorder. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.nnSee also familial advanced sleep-phase syndrome (FASPS; OMIM:604348), which is a distinct disorder characterized by very early sleep onset and offset. tmpaxzxjjyw_mondo_relaxed.owl short sleeper|short sleep phenotype OMIMPS:612975 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/phenotypicSeries/PS612975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2936860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73975000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1370510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10066242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10024792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D057049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:248305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126809003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0281330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0600327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1956147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:320401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C159106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1562113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017996 biolink:NamedThing obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204202|Orphanet:329255 Obsolete in Orphanet MONDO:0009485 True owl:Class ORPHA:329255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72945002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235966007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/138920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS157600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403906006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10022955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237619009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:406602003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254921004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92539008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:255210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C68611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404057003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:530838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92047003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92050000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010387 biolink:NamedThing obsolete invasive pneumococcal disease, recurrent isolated, 2 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010386 OMIM:300640 Obsolete in OMIM. True https://github.com/monarch-initiative/mondo/issues/2339 owl:Class https://omim.org/entry/300640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4511056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27025001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:85579005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:364043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/203800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:88618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/185120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715755008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75006000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/184700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS108800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:331190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725590001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/125700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C579867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0555191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:103919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733085004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109355002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237610008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C46105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C88412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C121156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/150260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3714651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/211965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000348 biolink:NamedThing obsolete posterior polar cataract tmpaxzxjjyw_mondo_relaxed.owl cataract, posterior polar|obsolete posterior polar cataract (disease) obsolete posterior polar cataract (disease) HP:0001115 DOID:0050537 True owl:Class DOID:0050537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10004019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:468666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020244 biolink:NamedThing obsolete unclassified primitive or secondary maculopathy tmpaxzxjjyw_mondo_relaxed.owl out of scope Orphanet:98666 MONDO:0020242 True owl:Class DOID:1234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29928006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:252164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/249210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400171002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007140 biolink:NamedThing obsolete antiphospholipid syndrome tmpaxzxjjyw_mondo_relaxed.owl term split MONDO:8000010 True owl:Class https://github.com/monarch-initiative/mondo/issues/3634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763061004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254129003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:232364006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238007004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764725008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/253590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/500014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/166350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0003-2034-601X biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764736001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020011 biolink:NamedThing obsolete rare headache disorder Rare headache disorder. tmpaxzxjjyw_mondo_relaxed.owl rare headache disorder|rare headache MONDO:0021146 Orphanet:98022 UMLS:C0393735 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C155756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/178400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/256850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015969 biolink:NamedThing obsolete rare genetic thyroid disease Rare genetic thyroid disease. tmpaxzxjjyw_mondo_relaxed.owl rare genetic thyroid disease MONDO:0003240 Orphanet:183631|UMLS:CN200568 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0152063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C67453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS161400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:82212003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004626 biolink:NamedThing obsolete Hodgkin's paragranuloma tmpaxzxjjyw_mondo_relaxed.owl Hodgkin paragranuloma out of scope DOID:8642|NCIT:C26956 MONDO:0044778 True https://github.com/monarch-initiative/mondo/issues/3360 owl:Class NCIT:C26956 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/308940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C37870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/103285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0677608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN469330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0021051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722057000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10060751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718850008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:521438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C119991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93031005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716647001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/164750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:25188002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10046369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/309500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/190340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:251290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1457897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0521585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13092008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:181425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1291401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN924917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402781004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38573008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363398003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11010461000119101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725416005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763220008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C0155145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:274142002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1384641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/203650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0338070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:698290008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN484737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254095002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:544254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/274190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4302747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72951007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:69 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0553580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019183 biolink:NamedThing obsolete inherited odontologic disease tmpaxzxjjyw_mondo_relaxed.owl out of scope UMLS:CN205756|Orphanet:77830 MONDO:0006999 True https://github.com/monarch-initiative/mondo/issues/3456|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0264490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:424568000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:225147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10007089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61094002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723360007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/medgen/57754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:71322004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10035148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707359008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92080005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0585216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0340038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0519030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C38150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716868003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:210159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/275190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57181007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:65798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016788 biolink:NamedThing obsolete genetic hyperferritinemia without iron overload Genetic hyperferritinemia without iron overload is a rare biological anomaly defined as high serum ferritin levels without elevations of transferrin saturation, tissue or serum iron and characterized by an apparently asymptomatic clinical phenotype. tmpaxzxjjyw_mondo_relaxed.owl benign hyperferritinemia out of scope Orphanet:254704|SCTID:766929007 This is a biological anomaly and not a disease. HP:0003281 True owl:Class ORPHA:254704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:31828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15771000119109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0021192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:102005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:231828003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1510791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1608983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/207900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:9 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C79777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3281236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:24360007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18546004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0266919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1318020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41572006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:459070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:127020005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN252642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10008864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/133100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4024957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718196002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4330531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54184008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10062776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:21061004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:8757006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3698095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33662006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3665609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:3303004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C111963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10027276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0376532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3889474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1517109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724096007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721765009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN240510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:33314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:110979008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/164745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0344058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS265450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4305468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/190500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10025487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10062766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721978002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10004941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719159004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:8849004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001807 biolink:NamedThing obsolete familial combined hyperlipidemia A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma cholesterol and/or triglycerides. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (upstream stimulatory factors) on chromosome 1. tmpaxzxjjyw_mondo_relaxed.owl familial multiple lipoprotein-type hyperlipidemia|mixed hyperlipidaemia|mixed hyperlipoproteinemia|hyperbetalipoproteinemia with prebetalipoproteinemia|type IIb hyperlipoproteinemia|combined hyperlipidemia|familial combined hyperlipidemia (disorder) [ambiguous]|mixed hyperlipidemia|combined hyperlipoproteinemia ICD10:E78.2|ICD10:E78.4|DOID:13809|OMIM:144250|MedDRA:10027763|Orphanet:79211|ICD9:272.4|MESH:D006950|SCTID:238040008 Obsolete in Orphanet MONDO:0001336 True owl:Class ORPHA:79211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128468007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/308050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77157004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0016719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10000002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C117074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2700265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18927009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:476119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4316789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277796003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/204650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111373008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/201020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13445001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:158687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4321247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10015996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:429233001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/226730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1258222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52542005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10034042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C82887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN502749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/180900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5602001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2717750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/109820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:80710001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:66630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C43606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10062920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0343083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:54370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42829009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180106 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205484001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52772002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:266108008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2608045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:301317008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/304120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:10597006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2720289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN236678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:313947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C72069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10011318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1534008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0005747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10017708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C74456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty DOID:371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:281127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763739002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN404275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5505005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D041881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:426336007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:4939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015076 biolink:NamedThing obsolete rare parathyroid tumor Any of the forms of tumor of parathyroid gland that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare tumor of parathyroid gland MONDO:0021360 Orphanet:100090 UMLS:C0030521|ICD10:D44.2|ICD10:D35.1|ICD10:C75.0 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C538090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128206006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1956 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254116003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D059608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/117550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C82341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721905000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725046003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11296007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10060873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C119031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015543 biolink:NamedThing obsolete hemophagocytic syndrome associated with an infection tmpaxzxjjyw_mondo_relaxed.owl out of scope MONDO:0015542 True owl:Class MESH:C566449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:59 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:430476004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3272399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723301009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN225932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3273225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277589003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400054000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:444691002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/266255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237999008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018488 biolink:NamedThing obsolete rare genetic odontal or periodontal disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN237489|Orphanet:420755 May be obsoleted. The semantics of the ORDO class are not clear True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN237489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:420485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0752330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46168003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D029424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/234750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717257000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:210141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/312210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265372 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0730199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/258500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52674009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1449563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92681005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87153008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10063585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/191482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717752005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020484 biolink:NamedThing obsolete rare familial disorder with 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717012004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020221 biolink:NamedThing obsolete secondary glaucoma due to a proliferation and differentiation anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98637 True owl:Class ORPHA:98637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:331206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75478009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:422348008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN043595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1622427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363379000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2939185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3714980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56692003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:700062000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10071573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363460002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044235 biolink:NamedThing obsolete hsr tmpaxzxjjyw_mondo_relaxed.owl handedness|HSR|hand skill, relative OMIM:139900 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/139900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38742007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400038003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855762 biolink:NamedThing 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017083 biolink:NamedThing obsolete lipoma associated with neurospinal dysraphism tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268832 True owl:Class DOID:65 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D046349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253737007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:182121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/263630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722062004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0685118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:267601009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:197821004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715568002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:294026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4317339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74653006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:69663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10037556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:320370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/188570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D031249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/137245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4305156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN232116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699184009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:275322007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/221950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:44917000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/137920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:103907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN043584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:77259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C28182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:312682007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C101050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254861002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68216000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2049069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17346000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276811008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83824009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718577005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715817007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10035484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10014096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS308350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4329672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0016065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:192976002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721887007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33548005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84172003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719816006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/255990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2748535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0859976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:cl.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4086533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702412005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10066862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1527304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65399007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS203300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/269400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/250220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:280483007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254100000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61764000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/119550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0262564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:118941004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0521610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:444728005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833578 biolink:NamedThing 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UMLS:C1850930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:431034009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015858 biolink:NamedThing obsolete rare non-malformative breast disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:180202|UMLS:CN200460 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MESH:C537477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:226298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1968848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92220004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236706006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MESH:C563835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236682002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10061591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46152009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015875 biolink:NamedThing obsolete rare non-malformative uterine adnexal disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:180303|UMLS:CN200481 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN201620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:70472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75667007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:698851003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:443265004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:94122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:398565003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719378009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS105400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0175704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402397006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C54302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:3842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C142892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:104008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:70596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:396331005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240877000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10064334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:416069001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/120440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS193100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/109800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016111 biolink:NamedThing obsolete non-dystrophic myopathy with collagen 6 anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:206659 Obsolete in Orphanet True owl:Class ORPHA:206659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010527 biolink:NamedThing obsolete microphthalmia-ankyloblepharon-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0010671 OMIM:301590 True https://github.com/monarch-initiative/mondo/issues/3803 owl:Class https://omim.org/entry/301590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0009440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10010452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS160900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:23853001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79855003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:77299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:26029002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363400004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702411003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:134031000119108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230314007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/245590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:129000002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3661483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:12825006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C83813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN248531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:317476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044269 biolink:NamedThing obsolete novelty seeking personality trait Human personality traits that can be reliably measured by rating scales show a considerable heritable component. One such instrument is the tridimensional personality questionnaire (TPQ), which was designed by {6:Cloninger et al. (1993)} to measure 4 distinct domains of temperament--novelty seeking, harm avoidance, reward dependence, and persistence--that are hypothesized to be based on distinct neurochemical and genetic substrates.nnRisk-taking is a characteristic of behaviors that occur under conditions of uncertainty and involves a tradeoff between beneficial versus detrimental outcomes, perceived or real. Risk-taking may or may not involve conscious evaluation of the probability and magnitude of possible outcomes ({1:Anokhin et al., 2009}).nnSee also harm avoidance (OMIM:607834) and pathologic gambling (OMIM:606349), which may be related. tmpaxzxjjyw_mondo_relaxed.owl risk-taking behavior|novelty seeking personality trait OMIM:601696 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/601696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D051303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/215300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:415300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/136550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:367542003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715403006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:276402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/259500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36696005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95877004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/261500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:437552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14560005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3808953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719162001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/181750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN580795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10034699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10013003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://ungc-communications-assets.s3.amazonaws.com/docs/publications/The-Seaweed-Manifesto.pdf biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:700489002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235967003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/262000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1708604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391651 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https://omim.org/entry/614692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:26479009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:221008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716195006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265309 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70241007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C38342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:404571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725286002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:500159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D052517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:498454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:480556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10065863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74783009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/medgen/540779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/254900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/insdc/CM000673.2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707551007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:129639005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2827361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/118830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253330006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254582000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN236627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:125586008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62403005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230306001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/124700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS220290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:232016005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/264420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/131300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:417183007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0740392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:129133005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10044696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721085000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019711 biolink:NamedThing obsolete dysostosis with predominant vertebral and costal involvement tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93454 True owl:Class ORPHA:93454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/223330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:110985001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005741 biolink:NamedThing obsolete egg allergy Allergic reaction to eggs that is triggered by the immune system. tmpaxzxjjyw_mondo_relaxed.owl allergy to eggs|allergy of egg|egg allergic disease MONDO:outOfScope MESH:D021181|UMLS:C0559469|DOID:4377|ICD9:V15.03|EFO:0007248|SCTID:91930004 SCTID:213019003|SCTID:157802003 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class MESH:D021181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4303162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0864950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1301270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:64753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254622008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253149002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10006205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4275250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27982003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/108950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016314 biolink:NamedThing obsolete rare carcinoma of pancreas Rare pancreatic carcinoma. tmpaxzxjjyw_mondo_relaxed.owl rare exocrine pancreatic carcinoma|rare pancreatic carcinoma MONDO:0005192 Orphanet:217074|UMLS:CN201130 MedDRA:10033604|MESH:D010190|UMLS:C0346647|MedDRA:10033609|UMLS:C0235974 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1835359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:32268008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10006475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/598500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/259600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:307604008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0948480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1260879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719985001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719140001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:71271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C82884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:102002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:488201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2062889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0855073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/181800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719255000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2748536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:195199008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:11741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:6263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/115310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/312100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044975 biolink:NamedThing obsolete disease of transporter activity tmpaxzxjjyw_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class SNOMEDCT:360792001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/115000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C133254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61233003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:476096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65075004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78305006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:24369008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230745008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:488168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:6738008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:325351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720850008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS202200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10062171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30265004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717813005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN244395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000790 biolink:NamedThing obsolete Atlantic salmon allergy A allergy involving a Salmo salar. tmpaxzxjjyw_mondo_relaxed.owl Salmo salar fish allergy|Salmo salar caused allergic disease|Salmo salar allergic disease|allergy of Salmo salar MONDO:outOfScope DOID:0060515 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:330058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764810000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718771009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2748568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/228250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044239 biolink:NamedThing obsolete median-ulnar nerve communications tmpaxzxjjyw_mondo_relaxed.owl median-ulnar nerve communications|Martin-Gruber Median-ulnar anastomosis OMIM:155150 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/155150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233728004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/302060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:260305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C150555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:64479007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10037138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D046729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/256100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:60014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:424413001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/186000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68996008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:416707008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240524001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020206 biolink:NamedThing obsolete rare refraction anomaly tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:98618 UMLS:C0034951 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:119523007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763348005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/107440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1531773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:16596007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:225700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763310000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51053007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254637007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:423384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D050090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:91857003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3647449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:464463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/132600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/125595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/182815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:119522002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715316005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84027009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:442292004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C127816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2064409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0520571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/126250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70076002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/118005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:424802006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7231009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/261750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HP:0007435 biolink:NamedThing obsolete Diffuse palmoplantar keratoderma tmpaxzxjjyw_mondo_relaxed.owl HP:0007447 True human_phenotype owl:Class DOID:4671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:53540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254659009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10027756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS211600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C142894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7125002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237683004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726083008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:449395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126583006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3541340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715866009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C134954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719404009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C74983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0079772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/118000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29740003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/248200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2674249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:406446000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10025213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10033890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:37042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3808964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018296 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0878675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:0110607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10060865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/176700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763352005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020224 biolink:NamedThing obsolete rare cataract Rare cataract. tmpaxzxjjyw_mondo_relaxed.owl rare cataract (disease)|rare cataract MONDO:0005129 Orphanet:98640 UMLS:C0086543 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:1414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN117960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D025962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2492009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/151620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721629005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719661007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS106300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D026681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78940002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:2000824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C1517111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/271220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015603 biolink:NamedThing obsolete rare odontal or periodontal disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:164001|UMLS:CN226712 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:164001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1535942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10003458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:408663001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C580424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10047631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73146005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D047808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C120203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:250978003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1302392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:444099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0362046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:555905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66270006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020014 biolink:NamedThing obsolete rare disease with odontological manifestation tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:98027|UMLS:CN206947 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:57993004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:ons.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10060707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:44323002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/169150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1450052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111567006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1291386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42295001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733492003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044283 biolink:NamedThing obsolete body mass index quantitative trait locus 18 tmpaxzxjjyw_mondo_relaxed.owl body MASS index quantitative trait locus 18|BMIQ18|obesity, susceptibility to OMIM:615457 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/615457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109494000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72262000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:71281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77690003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/185050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0260662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10023686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015861 biolink:NamedThing obsolete rare uterine adnexal tumor tmpaxzxjjyw_mondo_relaxed.owl syn: Rare tumor of ovaries and fallopian tubes MONDO:outOfScope Orphanet:180220|UMLS:CN200464 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C1858050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399955009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:216873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3272809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0151779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703522009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1563215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:447882007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715963002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254918001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726029005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/119600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:231930000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13600006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703525006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C47857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:4170004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/149400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:108963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/128710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10001540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0474965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233629001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764522009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:307871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9250002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/226900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10003226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402355000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233642001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:424027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717332007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/241310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707756004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/246550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS617660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334296 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41291007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30588004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:298285004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59394009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C141423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018413 biolink:NamedThing obsolete female infertility due to an anomaly of ovarian function of genetic origin tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN227356|Orphanet:400022 ICD10:N97.0 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class UMLS:CN227356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715364001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3805409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:3218000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403768004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016631 biolink:NamedThing obsolete hemorrhagic disorder due to an acquired platelet anomaly A hemorrhagic disorder due to a platelet anomaly which develops after birth. tmpaxzxjjyw_mondo_relaxed.owl rare coagulopathy due to an acquired platelet anomaly|rare bleeding disorder due to an acquired platelet anomaly|rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia|rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia|rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia MONDO:outOfScope UMLS:CN226981|Orphanet:248347 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:D014625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:398053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/100600 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/206570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/183849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020189 biolink:NamedThing obsolete eyebrow/eyelashes structural anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98599 HP:0000534|HP:0000499 True 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tmpaxzxjjyw_mondo_relaxed.owl DOID:0060270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/227650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715439000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:457265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733506009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN895589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1331532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0496763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/252150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10074631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:397016004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C142886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:218439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/2494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:576370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016634 biolink:NamedThing obsolete thrombotic disorder due to an acquired coagulation factors defect An instance of rare thrombotic disorder due to a coagulation factors defect that is acquired during the lifetime of the individual. tmpaxzxjjyw_mondo_relaxed.owl acquired rare thrombotic disorder due to a coagulation factors defect MONDO:outOfScope UMLS:CN226984|Orphanet:248365 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0080542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3801 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718754008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10002921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/133500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254124008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:397802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40307 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41574007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89684003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/193100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2704003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/261515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:276525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/135700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126799003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C86917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:405810005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3539071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724138007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1517124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1562298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66948001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:371040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/265950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/134000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46252003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3645536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:527497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703544004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10007968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10038489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019048 biolink:NamedThing obsolete rare vascular disease Any of the forms of vascular disease that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare vascular disease MONDO:0005385 Orphanet:68362 UMLS:C0042373 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class NCIT:C156767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1299237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:267430007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716191002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403886007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:35237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class NCBITaxon:51368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006475 biolink:NamedThing obsolete unclassified renal cell carcinoma A renal cell carcinoma characterized by morphologic features that do not fit easily into one of the other well-defined categories of renal cell carcinoma. Examples of such features include mixtures of morphologic patterns, mucin production, and sarcomatoid morphology. tmpaxzxjjyw_mondo_relaxed.owl unclassified renal cell carcinoma|unclassified renal cell cancer|URCC out of scope NCIT:C27892|EFO:1000603|UMLS:C1336853|ONCOTREE:URCC MONDO:0005086 True owl:Class https://omim.org/entry/613778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254290004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class SNOMEDCT:609398007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95279007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:81 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:24743004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS259700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715726000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:32139003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:737580004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766715000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765135003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C120531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty ORPHA:99086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/106500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/219721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:60015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:204464007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52182008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:528084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302856006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN181217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN231736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763320005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276876007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27270004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015965 biolink:NamedThing obsolete rare genetic refraction anomaly tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN226813|Orphanet:183601 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class SNOMEDCT:26664005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:734024009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:92 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255029007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10042298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:408649007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254715009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1512750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8956 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/215100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2748662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276891009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/226200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:449052009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:397744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/500004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN236409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C62569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111322 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:37612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/312600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0474809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10017406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763349002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/400021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254923001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015680 biolink:NamedThing obsolete rare pervasive developmental disorder Rare pervasive developmental disorder. tmpaxzxjjyw_mondo_relaxed.owl rare pervasive developmental disorder|rare ASD|rare autism spectrum disorder|rare PDD MONDO:0000594 Orphanet:168778 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tmpaxzxjjyw_mondo_relaxed.owl DOID:10445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715409005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C54203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D060705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126770008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C102820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:373639002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/218030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51500006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238639005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS271930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402824003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:193137006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702380008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C137957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:267607008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10010656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28861008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/312863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1512743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95472001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C48287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721095007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0395865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/222748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS163950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717336005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:480524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718751000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:444138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021196 biolink:NamedThing obsolete disease by molecular activity disrupted tmpaxzxjjyw_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class OBO:mondo#metaclass biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl A grouping of disease classes. Should be excluded from analysis owl:AnnotationProperty ORPHA:97955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72744008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:110997000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28689008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30664006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10029234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019515 biolink:NamedThing obsolete rare dementia Rare dementia. tmpaxzxjjyw_mondo_relaxed.owl rare dementia MONDO:0001627 UMLS:CN227644|Orphanet:89043 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:12257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/267800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0677865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79468000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/271550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764459008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:25147002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:414029004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/189800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C130998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18842008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719432000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239087008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/226110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/306700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230672006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233843008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/271600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN842245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:102012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10040056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/268250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:dron.owl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1855002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C119055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/168300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/424500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:398036000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92089006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C102570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723995003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:76267008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4329304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1801959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044251 biolink:NamedThing obsolete australia antigen tmpaxzxjjyw_mondo_relaxed.owl Australia antigen OMIM:209800 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/209800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2674695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:124178006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36193003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/276822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/278700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4511137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719380003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717182006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:8326008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C111814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0281329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020136 biolink:NamedThing obsolete neurodegenerative disease with dementia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98534|UMLS:CN207020 MONDO:0005559 True https://github.com/monarch-initiative/mondo/issues/1498 owl:Class UMLS:CN207020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:359007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:64542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009641 biolink:NamedThing obsolete mitochondrial complex II deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100294 Created new class that is child of OMIMPS. True https://github.com/monarch-initiative/mondo/issues/2758 owl:Class https://omim.org/entry/258400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/309560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0023211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C0030636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020610 biolink:NamedThing obsolete blood group, diego system tmpaxzxjjyw_mondo_relaxed.owl Diego Blood Group System|BLOOD GROUP, DIEGO SYSTEM|DI OMIM:110500 True owl:Class https://omim.org/entry/110500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10001890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95198001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C148023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254670002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C148260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN971653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:43123004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0033700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10066802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703528008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128107007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1282500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:221109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class SNOMEDCT:721009008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3898582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN036006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/311900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41788008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2936741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/174770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019965 biolink:NamedThing obsolete rare benign ovarian tumor Any of the forms of ovarian benign neoplasm that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare ovarian benign neoplasm MONDO:0000646 Orphanet:97293 UMLS:C0004997 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class MESH:C562988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92117002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10029236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011277 biolink:NamedThing obsolete leukoregulin tmpaxzxjjyw_mondo_relaxed.owl leukoregulin OMIM:602994 True owl:Class https://omim.org/entry/602994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719834005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:420584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:458833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723406000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/258320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254651007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10021076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:281034005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3164279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/108300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C133729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0919940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10070579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:446887007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/238970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230299004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10004056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0040087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17025000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:448267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:193487008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0853715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:698250005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:440392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017166 biolink:NamedThing obsolete rare tumor of salivary glands tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:276142 UMLS:C0036095 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:276142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719576009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233665006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237542005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205063003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN032230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:443950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044238 biolink:NamedThing obsolete lunulae of fingernails tmpaxzxjjyw_mondo_relaxed.owl lunulae of fingernails OMIM:152600 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/152600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1258215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008074 biolink:NamedThing obsolete nerve growth factor, alpha subunit tmpaxzxjjyw_mondo_relaxed.owl nerve growth factor, alpha subunit|nerve growth factor, ALPHA SUBUNIT|NGFA out of scope OMIM:162020 True https://github.com/monarch-initiative/mondo/issues/3358 owl:Class https://omim.org/entry/162020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:372101000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404033003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN373594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:436245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:82323002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:423693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/221500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl CHEBI:36684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239806000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:158684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://orcid.org/0000-0001-9897-3238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:310050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D021782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3541518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:320335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/193510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1719788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/207790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363246002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1302746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52947006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49762007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020013 biolink:NamedThing obsolete rare odontologic disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:98026|UMLS:CN206946 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C2931266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719302009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0040084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:417607009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0578869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723622007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70794004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019710 biolink:NamedThing obsolete dysostosis with predominant craniofacial involvement tmpaxzxjjyw_mondo_relaxed.owl Orphanet:93453 True owl:Class ORPHA:93453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D052958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/medgen/358137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0023072 biolink:NamedThing obsolete envenomization by Bothrops lanceolatus tmpaxzxjjyw_mondo_relaxed.owl Envenomization by the Martinique lancehead viper GARD:0002131|Orphanet:1939 True https://rarediseases.info.nih.gov/diseases/2131/envenomization-by-bothrops-lanceolatus owl:Class ORPHA:293807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS102200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015118 biolink:NamedThing obsolete rare pulmonary disease tmpaxzxjjyw_mondo_relaxed.owl Orphanet:101944 MONDO:0005275|MONDO:0005087 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:101944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:25044007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019096 biolink:NamedThing obsolete rare pulmonary hypertension Rare pulmonary hypertension. tmpaxzxjjyw_mondo_relaxed.owl rare pulmonary hypertension MONDO:0005149 Orphanet:71198|UMLS:CN227571 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:71198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0026856 biolink:NamedThing obsolete homosexuality 1 tmpaxzxjjyw_mondo_relaxed.owl HOMOSEXUALITY 1|Sexual Orientation, Male|HMS1 OMIM:306995 True owl:Class https://omim.org/entry/306995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:127030001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719296002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93255008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/255900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:58610003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239064000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/insdc/CM000679.2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:389236000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10065862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:196125002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:105997008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D043204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10058084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/310700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10009657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C169001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404041003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:276148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044241 biolink:NamedThing obsolete mydriatic response to pharmacologic agents tmpaxzxjjyw_mondo_relaxed.owl mydriatic response to pharmacologic agents OMIM:159410 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/159410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/158330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:59181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/263450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020025 biolink:NamedThing obsolete rare male infertility Rare male infertility. tmpaxzxjjyw_mondo_relaxed.owl rare male infertility MONDO:0005372 Orphanet:98048 UMLS:C0021364 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0023860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0851693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/209850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:597201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403825008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS229200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D053570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:ubprop#_upper_level biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty ORPHA:207021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51442005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363456000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS303350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:438134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:33001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62192003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/159000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS214700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11320 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tmpaxzxjjyw_mondo_relaxed.owl DOID:0111692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:16 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/266130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:402014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:423461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/224400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:50816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403904009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/208500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS266600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:282196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044976 biolink:NamedThing obsolete disease of catalytic activity tmpaxzxjjyw_mondo_relaxed.owl enzymopathy|enzyme disorder out of scope SCTID:78548001|UMLS:C0520572 This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. 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MESH:C563640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716649003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363352004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399076001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:210584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11612004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C580500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765187004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30865009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0474820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14094001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0112200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722449007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:445436005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92272009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C53316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79177001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:447058001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363489000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:57145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240849009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763624007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28867007 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:204808002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:315058005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:24750000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C37864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:530995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:456333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015707 biolink:NamedThing obsolete DNA repair defect other than combined T-cell and B-cell immunodeficiencies tmpaxzxjjyw_mondo_relaxed.owl Out of scope Orphanet:169346 MONDO:0018035 True https://github.com/monarch-initiative/mondo/issues/3191 owl:Class ORPHA:169346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563554 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:325345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0752191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188800003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720501007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190815001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/144190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020262 biolink:NamedThing obsolete nervous system anomaly with eye involvement tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98692 True owl:Class ORPHA:98692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302215000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/242100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:65 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN118840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS210250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/184850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:423607006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:200983001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/154600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10053219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016124 biolink:NamedThing obsolete drug and/or toxic myopathy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:206985 Obsolete in Orphanet MONDO:0016105 True owl:Class ORPHA:206985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:187059008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:457260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:124302001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C121988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0266521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240095001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C124517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:447896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/207780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/268220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:53226007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0236048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699308002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10009007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1841693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:20824003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:768472004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10017391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:415238003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:194269002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10001806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10034533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/100820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:709413001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:58750007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D052582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/200150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015652 biolink:NamedThing obsolete chromosomal anomaly with epilepsy as a major feature tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:166469 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/projects/6 owl:Class MESH:C564655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0403818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN158709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10072255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/113450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46085004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:454706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:34037000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36813001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47812002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS107970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:94140004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73465006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:191260004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36874002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0282312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302896008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:87876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018336 biolink:NamedThing obsolete Silver-Russell syndrome due to a point mutation tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.1|Orphanet:397590|UMLS:CN225933 We cannot reliably subclass under it. Orphanet describes this under Silver-Russell syndrome. MONDO:0008394 True https://github.com/monarch-initiative/mondo/issues/1842 owl:Class https://omim.org/entry/615545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10013029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/235750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:193756007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/253250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73328005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0005830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0262963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723624008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14535005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725104005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS602483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233664005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1300228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:165707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363411007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109995007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3695127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254122007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363387004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/248300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1709240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717914000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724179008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2242703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:373621006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D061085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:420561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020027 biolink:NamedThing obsolete rare allergic disease Rare allergic hypersensitivity disease. tmpaxzxjjyw_mondo_relaxed.owl rare allergic hypersensitivity disease|rare allergic disease|rare allergy MONDO:0005271 UMLS:CN206951|Orphanet:98050 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:C0338473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:73423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:193003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0854140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:53347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/medgen/11567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717222003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1263887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4273669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0403824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3714896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254938000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS300751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:424065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:278098005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN924907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:16424000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699866005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:40366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:40283005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:104003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13906002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/154276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4084770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77971008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400001003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239140003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190437000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:563708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/224100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0544008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:372146004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699867001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715374003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:44018007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/164230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18265008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D030243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:423275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/302350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/137200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238735005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62151007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0559470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C71732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17920008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28914006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/236640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN847586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126804008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN032818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/144800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109888004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:444490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10011775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044257 biolink:NamedThing obsolete lutheran null Autosomal recessive inheritance of the Lutheran null blood group phenotype is extremely rare, and has been reported in only 5 individuals. There is no obvious associated clinical or hematologic pathology, and all patients have been identified through identification of anti-Lu3 antibodies in their serum ({4:Karamatic Crew et al., 2007}).nnThe Lutheran inhibitor blood group phenotype (In(Lu); OMIM:111150) is characterized phenotypically by the apparent absence of the Lu antigen on red blood cells during serologic tests, i.e. Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {7:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene. These 2 forms of Lutheran absence on red blood cells can be differentiated both by the pedigree and by serologic studies.nnAn X-linked recessive form (OMIM:309050) has been rarely reported. tmpaxzxjjyw_mondo_relaxed.owl Lutheran null|recessive 50U (A-B-) phenotype OMIM:247420 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/247420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10001926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/309000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11244009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733064004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1370500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/148500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717749002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C41237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19058002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D045908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/245348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0521802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766818009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49351009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/261740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000067208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:529468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10004430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/253280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717973004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716006003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/311895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:105600002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/234800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:204153003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:279897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/192605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719838008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN244562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:48241004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C63324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/161600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765146000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:698021005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10020916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020209 biolink:NamedThing obsolete rare hyperopia and astigmatism tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Orphanet:98621|UMLS:CN227819 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class DOID:0060375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:2230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66379009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/211530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255008003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:508542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/220220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10019939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/139393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:2741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:193148004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0343081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/134400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN882908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/236792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723584003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/535000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10021750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/222900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/105650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:206292002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/258450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699268002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/insdc/CM000685.2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0266316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/166700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/143470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65295003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003571 biolink:NamedThing obsolete labyrinthine dysfunction tmpaxzxjjyw_mondo_relaxed.owl ICD9:386.5|ICD9:386.58|ICD9:386.50|DOID:566|ICD10:H83.2X|ICD10:H83.2|ICD10:H83.2X9|SCTID:5239005|UMLS:C0155514 This is considered a phenotype, hence it was obsoleted. HP:0000359|MONDO:0002467 True https://github.com/monarch-initiative/mondo/issues/389 owl:Class SNOMEDCT:5239005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0392775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720612000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:521258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:26609002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/174900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C101209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9092004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75238000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:37702000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/116870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/113400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:485631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721571001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/228020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/500015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254050009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718753002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1510502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1802395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/253800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:195180004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95568003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D051437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/174310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1135821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:447877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2063478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:3978000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2980104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:274085008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:431329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/180300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234556002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:49042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238922006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN244566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765216006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/205000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57514000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN029380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:457378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/266500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11817007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/123155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:66624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C102993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/118670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254852002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:424925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766872002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0343206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7296 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126880001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764996009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/261560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/188201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015896 biolink:NamedThing obsolete rare hypoparathyroidism Rare hypoparathyroidism. tmpaxzxjjyw_mondo_relaxed.owl rare hypoparathyroidism MONDO:0001220 Orphanet:181405 ICD10:E20.1|ICD10:E20.8|ICD10:E20.0|ICD10:E20.9|UMLS:C0020626 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/139290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/249300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:216986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009427 biolink:NamedThing obsolete infantile hypophosphatasia Infantile hypophosphatasia (I-HPP) is a very rare, severe form of hypophosphatasia characterized by infantile rickets without elevated serum alkaline phosphatase (ALP) activity and a wide range of clinical manifestations due to hypomineralization. tmpaxzxjjyw_mondo_relaxed.owl infantile phosphoethanolaminuria|hypophosphatasia, perinatal lethal|HOPS|hypophosphatasia, infantile|obsolete infantile hypophosphatasia|infantile Rathburn disease out of scope SCTID:55236002|DOID:0110914|Orphanet:247651|ICD10:E83.3|UMLS:C2673477|OMIM:241500|Orphanet:247623|Orphanet:436|UMLS:C0268412 http://purl.obolibrary.org/obo/MONDO_0600009|http://purl.obolibrary.org/obo/MONDO_0600010|http://purl.obolibrary.org/obo/MONDO_0600011 True https://github.com/monarch-initiative/mondo/issues/2906 owl:Class UMLS:C0376527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0685988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:441434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:313808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:203923004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS124000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3267131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:53271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:420789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:274718005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3715155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:371189003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724385009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715862006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0151747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/243310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715795005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733091002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/132700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/252650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/500010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0282577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234633000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0700251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:706970001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#implicit_genetic_in_ordo biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl in ORDO this is classified as genetic even though the class is used for non-genetic disorders owl:AnnotationProperty DOID:11385 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/203290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46090001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78999002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84089009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265211 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0400964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715803003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:248326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255102004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716387004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/150170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7678002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:445338005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN244551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:182228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10035116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36971009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/415000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230373008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0409979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0343026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722075004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3281055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D053489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3806742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718097008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/186100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/165660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35154004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3241961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239124001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C102870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C38760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/164210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233759002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3662273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/257790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237793004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717922007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN248781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:89842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10002476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:43477006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703309000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:80327007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:156162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/106750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0861861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93948004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1968846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:8549006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0235770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:397946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/276200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/122750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10039447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:445503007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:367520004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:204319006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN714013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:22155002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0235270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS182250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0678185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4273966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764690001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/261630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/193520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001932 biolink:NamedThing obsolete atrophic vulva tmpaxzxjjyw_mondo_relaxed.owl atrophic vulva|atrophy of vulva|atrophic vulvitis ICD10:N90.5|ICD9:624.1|UMLS:C0156393|SCTID:248861000|DOID:14275 This is not a true disease, more of a phenotype or process. 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2680446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/207620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:443988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763276000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10033657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718107000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044253 biolink:NamedThing obsolete 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720749004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720860004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720010009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126686005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4509819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332513 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3714534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:360378009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN240645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D050805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2748587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84884003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720632004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36444000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:24129002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0005578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class http://identifiers.org/refseq/NC_000013.11 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/medgen/508459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/179270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3711385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/1705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78875003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C37263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/insdc/CM000682.2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021197 biolink:NamedThing obsolete disease by cellular component affected tmpaxzxjjyw_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class SNOMEDCT:708026002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1707390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:278042005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:44057004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:732249002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C136410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/129600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:414673004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:709489006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0333693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/187370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:438213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234970006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0242459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/142690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:565782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363681007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017645 biolink:NamedThing obsolete rare choreic movement disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005395 Orphanet:306715 UMLS:C0008489 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:0060402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/258800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN235466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0243025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/275370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36739006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:768666006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/314560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715341003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703538003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238902007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3472614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:459690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004632 biolink:NamedThing obsolete Hodgkin's granuloma An obsolete term referring to Hodgkin lymphoma. tmpaxzxjjyw_mondo_relaxed.owl Hodgkin granuloma|Hodgkin's granuloma of unspecified site|Hodgkin's granuloma, unspecified site, extranodal and solid organ sites|Hodgkin's granuloma MONDO:0004952 ICD9:201.9|SCTID:118610003|ICD9:201.1|NCIT:C6913|NCIT:C6914|NCIT:C3517|ICD10:C81|ICD10:C81.0|ICD9:201.7|ICD10:C81.3|SCTID:118609008|ICD10:C81.4|NCIT:C26956|ICD9:201|MESH:D006689|NCIT:C9357|DOID:8651|ICD9:201.2|ICD10:C81.2|ICDO:9661/3|ICD9:201.6|SCTID:118602004|ICD10:C81.9|ICD9:201.4|ICD9:201.0|SCTID:118607005 True owl:Class SNOMEDCT:237983002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:71862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/147610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10018391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011809 biolink:NamedThing obsolete mammographic density tmpaxzxjjyw_mondo_relaxed.owl mammographic density OMIM:607308|MESH:C564595 True owl:Class MESH:C564595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:129452008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C82833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:94095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3266027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399100005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/243600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:427795000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:487809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:268229003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4273914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3163622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:22 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/126700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2872 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/169170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/210370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:158772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:26791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38394007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63684002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:449790007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN248519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719427001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:58648008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN219009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38645004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3888198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9062008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717042001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1706827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1629 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:427481004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C53554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/154400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1879344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766757006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/192300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:252190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/165700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:22504001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206554 biolink:NamedThing 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UMLS:C2609129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D065172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:303012000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS311360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235073000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1514915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/233805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8107 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126792007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN244932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044219 biolink:NamedThing obsolete blood group, duffy system The Duffy blood group system, which consists of 4 alleles, 5 phenotypes, and 5 antigens, is important in clinical medicine because of transfusion incompatibilities and hemolytic disease of the newborn. Duffy antigens are located on ACKR1 (OMIM:613665), or DARC, an acidic glycoprotein found on erythrocytes and other cells throughout the body. The 2 principal antigens, Fy(a) and Fy(b), are produced by the FYA and FYB codominant alleles (see {613665.0001}). Four phenotypes are defined by the corresponding antibodies, anti-Fy(a) and anti-Fy(b): Fy(a+b-), Fy(a-b+), Fy(a+b+), and Fy(a-b-). Fy(a-b-), or Duffy null, is the major phenotype in African and American blacks and is characterized by the presence of Fy(b) on nonerythroid cells, but an absence of Fy(b) on erythrocytes. The Fy(a-b-) phenotype is associated with complete resistance to infection by the malarial parasite Plasmodium vivax (see OMIM:611162). Individuals with the Fy(a-b-) phenotype have the FYB-erythroid silent (FYB-ES) allele with a mutation in the DARC promoter ({613665.0002}). A fifth phenotype, Fy(bwk), or Fy(x), is characterized by weak Fy(b) expression on erythrocytes due to a reduced amount of protein. Individuals with the Fy(bwk) phenotype have the FYB-weak (FYB-WK) allele, also called the FYX allele, with a missense mutation in DARC ({613665.0003}). Other Duffy antigens include Fy3, Fy4, Fy5, and Fy6 (reviews by {21:Pogo and Chaudhuri (2000)}, {10:Langhi and Bordin (2006)}, and {14:Meny (2010)}). tmpaxzxjjyw_mondo_relaxed.owl Plasmodium vivax, resistance to|blood group, DUFFY system|Duffy blood Group system|FY OMIM:110700 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/110700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:24654003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1134515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/144100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716584007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27614006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62522004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233726000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128139000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:76069003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3827793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:301770000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60504009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C101218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/158170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0175694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717954003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/105550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS147060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63402005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS112240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/245010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109991003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10051713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:521450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10014985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4545381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS300755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721165001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:71517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN248526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:64751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/215480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74351001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:357058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C46004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class https://omim.org/entry/400047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2304001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:713646001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0236970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:411493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0472817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HP:0040066 biolink:NamedThing obsolete Abnormal morphology of bones of the lower limbs tmpaxzxjjyw_mondo_relaxed.owl HP:0040069 True human_phenotype owl:Class UMLS:C2931273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/215050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:402007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:317419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:428281000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:928000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:372098004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/267430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/206300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0262984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:94088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:320411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:69646003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D038901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/210600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/102100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:31150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92784007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:435845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0949885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C579878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:11598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:9717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS615952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:414285001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11687002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:67043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:269001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205824006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255072001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10043276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:414929001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723450004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:23 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126538005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10030345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:88919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C132293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126834003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702393003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:64686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:187692001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188292007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS115150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1456248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:464366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS177000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/180105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl IAO:0000224 biolink:NamedThing core Core is an instance of a grouping of terms from an ontology or ontologies. It is used by the ontology to identify main classes. tmpaxzxjjyw_mondo_relaxed.owl True PERSON: Alan Ruttenberg|PERSON: Melanie Courtot owl:NamedIndividual IAO:0000226 biolink:NamedThing placeholder removed tmpaxzxjjyw_mondo_relaxed.owl placeholder removed IAO:0000225 DOID:8025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254895003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0243000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719202006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403468003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10065151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:68385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS603278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46659004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93559003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/159100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl HP:0012374 biolink:NamedThing obsolete Abnormal globe morphology tmpaxzxjjyw_mondo_relaxed.owl HP:0012372 True human_phenotype owl:Class UMLS:C0270952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:464329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:449829009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46939000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017085 biolink:NamedThing obsolete malformation of the neurenteric canal, spinal cord and column tmpaxzxjjyw_mondo_relaxed.owl Orphanet:268843 True owl:Class ORPHA:785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61640006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/263600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10042742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:64748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:53691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS615438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255033000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74162007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN035931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30731004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0677779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/154300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1707436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018041 biolink:NamedThing obsolete other immunodeficiency syndrome with predominantly antibody defects tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope UMLS:CN204282|Orphanet:331244 Editor note: consider merging ICD10:D80.8 True https://github.com/monarch-initiative/mondo/issues/2662 owl:Class https://omim.org/entry/612410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D053549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:4945003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:440724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:480549 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725101002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:459696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716650003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/312910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C42589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253185002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52333004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000501 biolink:NamedThing obsolete Jensen syndrome tmpaxzxjjyw_mondo_relaxed.owl nerve deafness optic nerve atrophy, and dementia|deafness-opticoacoustic nerve atrophy-dementia syndrome|opticoacoustic nerve atrophy with dementia|Jensen syndrome|Opticoacustic nerve atrophy with dementia|syndrome of opticoacoustic nerve atrophy with dementia MONDO:0010578 UMLS:C1839564|GARD:0003046|MESH:C537568|DOID:0050867 True 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78921008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3806746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060875 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73495003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:61 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN036719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS194070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702375004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:36397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080396 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254872007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51409009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:187681002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:401315004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:565624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126953009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:69736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:20342001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS248600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723508002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68116008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718220008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:423633003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:42665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718764004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C168755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1306573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7393007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:150541000119104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1956257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:444645005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10042928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020005 biolink:NamedThing obsolete rare endocrine disease Rare endocrine system disease. tmpaxzxjjyw_mondo_relaxed.owl rare endocrine system disease MONDO:0005151 Orphanet:97978|UMLS:CN206938 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN206938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50797007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715865008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:194268005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/130050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:129179000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:397734008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33629003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:252128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/260910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/253400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62909004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763839005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/154370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0853240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4049711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/137580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28371001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022448 biolink:NamedThing obsolete amyoplasia mandibulofacial dysostosis tmpaxzxjjyw_mondo_relaxed.owl GARD:0000660 True https://rarediseases.info.nih.gov/diseases/660/amyoplasia-mandibulofacial-dysostosis owl:Class SNOMEDCT:230449001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/211930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95416007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:447731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0269194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4303547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4303785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:127004000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79268002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5262007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1290244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/242900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:16644004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C133084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62599000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111303009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN233040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl FOODON:03460180 biolink:NamedThing obsolete: food added tmpaxzxjjyw_mondo_relaxed.owl "Food added" and its subclasses referenced existing ingredients / food products. FoodOn uses relations like "has ingredient" to do the same. If needed, these relations can be annotated with proportions. http://www.langual.org/langual_thesaurus.asp?termid=H0180 LanguaL curation note: When not otherwise indicated in the scope note, *FOOD ADDED* factor terms are applied when the specified food is the second ingredient in order of predominance, excluding water. Always used for fillings and when the added food is part of the product name (e.g., raisin bread). True http://langual.org owl:Class MESH:C536036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:243367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/260920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1290877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/274265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715342005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2940785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721089006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10062908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C162484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0044212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class https://omim.org/entry/275240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10019053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:448270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720815000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/557000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN248515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:454887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D041882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1263882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765142003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230321007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:441944007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:191659001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:94147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:48918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719583002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/120502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715733000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C548035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D053653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:468684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:200920000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79830009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C60640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:411696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57653000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1475003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/236450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1794009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719021005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/167730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C70938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3276539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4505102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89112009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10002058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:307496006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/177170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36921006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN800195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0686163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D061387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715797002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722206009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014425 biolink:NamedThing obsolete hereditary persistence of alpha-fetoprotein Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy tmpaxzxjjyw_mondo_relaxed.owl ALPHA-fetoprotein, hereditary persistence OF|HPAFP out of scope Orphanet:168615|OMIM:615970|SCTID:716697002 This is a biological anomaly and not a disease. True owl:Class ORPHA:168615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:69850007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:555407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1261128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715318006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/184500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/refseq/NC_000024.10 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1370503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66987001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55604004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/156850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/194050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0237020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020139 biolink:NamedThing obsolete early-onset ataxia with dementia tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98539 True owl:Class ORPHA:98539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0175700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14366000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/pull/2571/ biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719975002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:424970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733491005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230284004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128540005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:6962006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41174002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51742006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0236642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719136005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10030286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014849 biolink:NamedThing obsolete autosomal recessive nonsyndromic deafness 105 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0012091 OMIM:616958 True https://github.com/monarch-initiative/mondo/issues/3098 owl:Class https://omim.org/entry/616958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733068001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:495930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240131006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10010323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/150700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:268180007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:443227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:156180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19138001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/276900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716108004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:25225006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0086649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/229650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018530 biolink:NamedThing obsolete rare epithelial tumor of liver and intrahepatic biliary tract tmpaxzxjjyw_mondo_relaxed.owl rare epithelial tumor of liver and IBT MONDO:outOfScope UMLS:CN237535|Orphanet:424933 True 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C565481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75331009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN169364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:447888006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C43553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59174009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84980006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18643000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3714644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:241774007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015577 biolink:NamedThing obsolete rare parasitic disease Any of the forms of parasitic infection that have a rare incidence. 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/258360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C136653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C153290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4048809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3640823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199276 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10065375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015618 biolink:NamedThing obsolete genetic pancreatic disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002356 UMLS:CN199994|Orphanet:165661 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class UMLS:CN199994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254844000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1834340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C158036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty NCIT:C84601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:181431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10061418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/254950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C63743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:104081000119103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:125666000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:231528008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81211007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0012294 biolink:NamedThing obsolete drug metabolism, poor, Cyp2C19-related tmpaxzxjjyw_mondo_relaxed.owl Opremazole, poor metabolism of|drug metabolism, poor, Cyp2C19-related|Omeprazole, poor metabolism of|Proguanil, poor metabolism of|clopidogrel, poor metabolism of|Mephenytoin, poor metabolism of GARD:0012906|OMIM:609535|UMLS:C1836023 True owl:Class UMLS:C1836023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:406619001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:231996009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:216729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3836857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C43298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0205816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/109730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10016674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717767009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722002002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:276432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0242770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:425492002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:443250000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D048089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764858009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/162380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10042044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C95880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716682000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61462000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254806009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/185700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402479002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1274233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92437008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75572007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:397735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92473001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402721001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/184460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/203000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111798006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10058951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/160980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721847002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002891 biolink:NamedThing obsolete gastrointestinal neuroendocrine benign tumor tmpaxzxjjyw_mondo_relaxed.owl DOID:4148 Obsoleted as the semantics of the corresponding DOID class were not clear. The label says benign but it is mapped to status-neutral neoplasm in NCIT True owl:Class DOID:2490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:110980006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254782003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255111004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720569006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:495879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:252131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C1336048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254060000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719599008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:104011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:443892003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0563212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0033770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38528001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:26106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404038007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C155752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/191200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0887866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722113001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/131440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84002002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:192877007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:34014006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:267395000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49428008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:105632002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28381002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0559459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D050723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254091006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3160738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10054013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190953007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0595989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:419097006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402587003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/251240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C548032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718177001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:373643003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/132900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/229800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254092004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234584007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0854511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3495589 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253031000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C115207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:231896005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/206550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72083004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/218900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716700003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10066957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:276244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88154004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363478007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1212005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403969002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:240103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C101220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3552634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277597005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:12337004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0151620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126679002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:313426007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/310650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C165469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009317 biolink:NamedThing obsolete nonphotosensitive trichothiodystrophy A trichothiodystrophy that is non-photosensitive tmpaxzxjjyw_mondo_relaxed.owl obsolete in Orphanet Orphanet:1245 MONDO:0018053 True https://github.com/monarch-initiative/mondo/issues/2852 owl:Class ORPHA:1245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2108396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0701163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C80512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C42086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN515063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0016667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565296 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10020703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:105597003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/156220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0596046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/220900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3495438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C71059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3887896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237837007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0235833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:33108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363383000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10060892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724152009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/220219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/216100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:29822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3887501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2242894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:449074003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70273001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:45709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MESH:C000591739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:23585005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/243180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:21946002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725035001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1304501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/260565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88776002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:252206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:427617000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:206523001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:45 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1263739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699298009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000911 biolink:NamedThing obsolete dilated cardiomyopathy 1T Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the TMPO gene. tmpaxzxjjyw_mondo_relaxed.owl moved to 115200|cardiomyopathy, dilated, type 1T|cardiomyopathy, dilated, 1T|CMD1T|familial isolated dilated cardiomyopathy caused by mutation in TMPO|TMPO familial isolated dilated cardiomyopathy|dilated cardiomyopathy type 1T DOID:0110452|UMLS:C3151039|MESH:C566052|OMIM:613740 OMIM has integrated the concept into another record, as CMD1T was thought to be caused by mutations in TMPO. Those variants are too frequent and so CMD1T no longer exists. 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tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725164008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4311046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/224690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233949008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111100 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:439732004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/105565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/194300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/155770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:404538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57643001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716665002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/121200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/118600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0473527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/187601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10036704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:487825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:404553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716024001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/102000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:221016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/181500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88393000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl DOID:0050705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:734022008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN368509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:441459009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/275250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0948638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/242500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70486007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765330003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10017538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:23097003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0000744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/229300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/187340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:420788006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS276700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52506002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:10736002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C133725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019014 biolink:NamedThing obsolete mutilating palmoplantar keratoderma with periorificial keratotic plaques tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100296 Split this term to create new OMIMPS and child. 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C563409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92175003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/125320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81000006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/173395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl DOID:0111025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715242008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4329660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C164226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/217990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29271008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002053 biolink:NamedThing obsolete hypoglycemic coma tmpaxzxjjyw_mondo_relaxed.owl HP:0001325 HP:0001325|UMLS:C0020617|ICD10:E15|ICD9:251.0|DOID:1607|SCTID:267384006 True owl:Class DOID:1607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399730005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65457005 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716077006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81634008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10063402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN074234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:426768001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/231950 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erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014}). tmpaxzxjjyw_mondo_relaxed.owl HALAH|HEMOGLOBIN, high altitude adaptation|Hemoglobin, high oxygen saturation of OMIM:609070 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/609070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:420686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS137800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0391970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699659007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:subkingdom biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89579000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65764006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN580791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN032031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10025143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000991 biolink:NamedThing obsolete left bundle branch block A bundle branch block in which the activation of the left ventricle is delayed. tmpaxzxjjyw_mondo_relaxed.owl left bundle branch [block] or [hemiblock]|left bundle branch hemiblock SCTID:63467002|SCTID:4973001|DOID:10272|ICD10:I44.60|UMLS:C0155702|ICD9:426.2 HP:0011713 True https://github.com/monarch-initiative/mondo/issues/2536 owl:Class DOID:10272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/190900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C148316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:181405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:59135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254840009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:71519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/267450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0857305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4284588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044277 biolink:NamedThing obsolete uric acid concentration, serum, quantitative trait locus 4 tmpaxzxjjyw_mondo_relaxed.owl gout susceptibility 4|uric acid concentration, serum, quantitative trait locus 4|UAQTL4 OMIM:612671 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/612671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:33572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5507002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0344289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10063397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716281000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/141749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS609192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10040798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/238350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111807001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10063689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/235740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0685941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:294705005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C124510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3272790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/104300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/240300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/265300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1442903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45894003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3806174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15307001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234142008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254796009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:34730008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0879606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:444820005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D059327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:266578003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:108997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51604006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2936403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:609397002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10047430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:476109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1449809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35400008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0269041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:187741001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/138990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C101025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10016508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C67277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10063493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7792000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19620000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1368041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:99095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/178500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:34742003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0157701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92466006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:443057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0524988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254790003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716747007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015936 biolink:NamedThing obsolete rare tumor of endocrine glands A rare tumor that involves the endocrine gland. tmpaxzxjjyw_mondo_relaxed.owl endocrine gland rare tumor|tumor of endocrine glands MONDO:0002082 Orphanet:182130 MedDRA:10061121|UMLS:C0014132 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:8633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/159700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:443079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18687009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3463824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716192009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0497550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2350236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017978 biolink:NamedThing obsolete syndrome with disorder of sex development of gynecological interest tmpaxzxjjyw_mondo_relaxed.owl syndrome with DSD of gynecological interest Orphanet:325638|UMLS:CN204125 These terms are not used clinically. MONDO:0001967|MONDO:0002145 True owl:Class UMLS:CN204125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/148050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3272522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722035007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:404507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404064001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254865006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl FOODON:03411347 biolink:NamedThing obsolete: plant tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C4510302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/243440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81896006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:155867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726610000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93469006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/256800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:68334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723309006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS135700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715632003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66579008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4317224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/263570 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719409004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79120002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/228100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92415001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:37109004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766707003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:21186006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36667009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:596753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/179200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000804 biolink:NamedThing obsolete white shrimp allergy A allergy involving a Litopenaeus schmitti. tmpaxzxjjyw_mondo_relaxed.owl Litopenaeus vannamei allergy|Litopenaeus schmitti caused allergic disease|allergy of Litopenaeus schmitti|Litopenaeus schmitti allergic disease MONDO:outOfScope DOID:0060529 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4511237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1263897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1282968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/311360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:447740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335894 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1282971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:413445002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D059366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:39963006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/241500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1258034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10018462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/151630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0848558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763317002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN035860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/171100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721015008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl FOODON:03420310 biolink:NamedThing obsolete: stamen tmpaxzxjjyw_mondo_relaxed.owl True owl:Class PO:0009029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020095 biolink:NamedThing obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature. tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant disease with focal palmoplantar keratoderma as a major feature|autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature|disease with focal palmoplantar keratoderma as a major feature, 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15628003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723501008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10064032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68905002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1709865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:73229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0009451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:85444005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/264180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73762008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1709780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718556007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2243088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:504530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:431353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:480483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702398007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/263800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11380006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719171005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:50815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:303070000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715338007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024657 biolink:NamedThing obsolete macrocystic neurilemmoma tmpaxzxjjyw_mondo_relaxed.owl DOID:3203 The DO class refers to macrocystic neurilemma but this is possibly a typo as the equivalent NCIT and UMLS class is microcystic MONDO:0002556 True owl:Class DOID:3203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721008000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/3805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C121563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720506002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C157524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty NCIT:C120909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2040007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN674504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/235370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254630009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36715001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722385008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/189600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565956 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:21173002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS254130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763631006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/217300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:441809006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:26792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:713277006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:12454008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95662005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254653005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535296 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89454001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10042217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722125003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400173004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716684004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/237400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10034052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C120394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61367005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/144750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:24 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:69134001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90642 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C74988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:6483008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235067001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/180360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15244003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:160148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74774004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30287008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/309200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C121747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29120000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10010439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719069008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1517113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:70592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403833009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0854248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:444699000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:221142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404039004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/265450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:72 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020313 biolink:NamedThing obsolete unclassified myelodysplastic/myeloproliferative disease tmpaxzxjjyw_mondo_relaxed.owl unclassified mixed myelodysplastic/myeloproliferatic syndrome out of scope Orphanet:98825|UMLS:CN207134 MONDO:0020077 True owl:Class UMLS:CN207134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17382005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/236730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:473010000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/189961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D052256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0744273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:193463006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:361115000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27837003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66308002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C111802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10014923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:58275005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:16685009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:444558002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:371364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:43117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:89938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C132067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN321863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1517127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/244400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92649001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/247800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3711387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/210250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:58868000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:24752008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239891002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63702009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:248095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764096006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720600004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:458841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/228980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10020610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0948750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0410189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:500055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/168830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/128300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D033461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:414819007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0029001 biolink:NamedThing obsolete chemically-induced disorder Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as pharmaceutical preparations; noxae; and pesticides. tmpaxzxjjyw_mondo_relaxed.owl disorders, chemically-induced|disorder, chemically-induced|chemically-induced disorder|chemically induced disorders out of scope MESH:D064419 MONDO:0029000 True https://github.com/monarch-initiative/mondo/issues/3414 owl:Class MESH:D064419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766819001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:328661000119108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000798 biolink:NamedThing obsolete mollusc allergy A allergic disease involving a mollusc food product. tmpaxzxjjyw_mondo_relaxed.owl allergy of mollusc food product|mollusc food product allergic disease MONDO:outOfScope DOID:0060523 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3551173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:320317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10013800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/193220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/260555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4011725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78572006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733083006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:127014009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30174008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020260 biolink:NamedThing obsolete myasthenic syndrome with eye involvement tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98690|UMLS:CN207074 See https://github.com/Orphanet/ORDO/issues/17 True owl:Class ORPHA:98690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238048001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0338488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72925005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4078288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl IAO:0006012 biolink:NamedThing scheduled for obsoletion on or after Used when the class or object is scheduled for obsoletion/deprecation on or after a particular date. tmpaxzxjjyw_mondo_relaxed.owl https://github.com/geneontology/go-ontology/issues/15532|https://github.com/information-artifact-ontology/ontology-metadata/issues/32 GO ontology scheduled for obsoletion on or after Chris Mungall, Jie Zheng owl:AnnotationProperty xsd:dateTime biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:451602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:444916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4282032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2109003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45004005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295110 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0012140 biolink:NamedThing obsolete pulmonary function tmpaxzxjjyw_mondo_relaxed.owl pulmonary function|lung function, accelerated rate of decline In, smoking-related|Plf OMIM:608852 True owl:Class https://omim.org/entry/608852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763527007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:181419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2699508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl DOID:7293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/213820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:385482004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29555009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/314000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/178370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1395264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0242172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C536335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3711370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724170007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93527005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/165590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C580383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276822007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92205005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/187600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4011788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715337002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:506334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126485001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:127225006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30915001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:448563005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239920006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47704002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:371409005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0457506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188243001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:416257001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:371423007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:276183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56717001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/201400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:2736005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0740479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/194470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018887 biolink:NamedThing obsolete rare cutaneous lupus erythematosus Cutaneous lupus erythematosus (CLE) is an autoimmune disease that denotes a heterogeneous spectrum of clinical manifestations affecting the skin and can be divided into 4 categories: acute CLE (ACLE); subacute CLE (SCLE); chronic CLE (CCLE; the most diverse form); and intermittent CLE (ICLE). CLE can either occur alone or associated with systemic lupus erythematosus (SLE). tmpaxzxjjyw_mondo_relaxed.owl rare cutaneous lupus erythematosus MONDO:0005282 Orphanet:535 MedDRA:10056509|ICD10:L93.1|UMLS:C0024137|ICD10:L93.2|ICD10:L93.0|MESH:D008178 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class https://omim.org/entry/251950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:449563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68496003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92428008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:58008004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:443101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/130020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/274230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4273968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:418763003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92123007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10011031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/215470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10061981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0002892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33513003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238872007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715657008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238861002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38822007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:94075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1302401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/222470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/110100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3148763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399903008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/314300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007149 biolink:NamedThing obsolete arbitrary restriction polymorphism 1 tmpaxzxjjyw_mondo_relaxed.owl arbitrary restriction polymorphism type 1|arbitrary restriction polymorphism 1|Arp-14A|Rflp-14A|restriction fragment length polymorphism 14A|anonymous restriction polymorphism 1 UMLS:C1862555|OMIM:107750 This is a gene/protein record, not a disease. True https://github.com/monarch-initiative/mondo/issues/1452 owl:Class https://omim.org/entry/107750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS236100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:211255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234485006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:57 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:307649006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1927 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:162526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717184007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10065854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11218009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C531854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:232333009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10052575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233621003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10052450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:194995005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75049004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254164007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/209900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83901003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C138174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51523009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:26823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/152550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C0796271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3472711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:76107001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C54585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty SNOMEDCT:196075003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class NCIT:C4154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/252010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45170000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021194 biolink:NamedThing obsolete disease by subcellular system affected A grouping of diseases based on molecular activity, cellular process or subcellular component. tmpaxzxjjyw_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class NCIT:C18252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/135300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1565172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C580174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1376001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:400011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/268080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:123952009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403281007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276954004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721233005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1721006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724176001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C28137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230502003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/265120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C120199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10070179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C67237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:8634009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31568009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:768935003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230496009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3642471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/124950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D055665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1512742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C154316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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MESH:C566533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0521648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721082002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:367498001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/245660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724090001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:457240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0400822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0878681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0079301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1947949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239805001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59548005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3887495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:44 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/139800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:182231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254185007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/108700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10007729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4517289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70195006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151356 biolink:NamedThing 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:439254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:89838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190303007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060680 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723408004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0013288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18805001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92617001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723720008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS115200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0033252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C141424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:609522002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN074230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/120500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0391869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720514008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1578917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:697897003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1739094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/176305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363445000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4082174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:46487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:54028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/medgen/418965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/233300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003044 biolink:NamedThing obsolete extraosseous chondrosarcoma A chondrosarcoma that is located in exclusively soft tissue. tmpaxzxjjyw_mondo_relaxed.owl DOID:4549 NCIt recommended obsoletion. MONDO:0012825 True https://github.com/monarch-initiative/mondo/issues/388 owl:Class DOID:4549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0686347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2987260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110919 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35339003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS267700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo#MISSPELLING biolink:NamedThing A synonym that is recorded for consistency with another source but is a misspelling tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1849732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:445006008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:67873006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10066022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10068704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:232442001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS271640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50926003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:93468003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN225942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402919000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516435 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717736007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56165008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1322286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240885009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:49 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009116 biolink:NamedThing obsolete lactose intolerance tmpaxzxjjyw_mondo_relaxed.owl obsolete lactose intolerance (disease) obsolete lactose intolerance (disease) MONDO:0100345 True https://github.com/monarch-initiative/mondo/issues/2949 owl:Class ORPHA:137814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:266438007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS251600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/215400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/161950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022732 biolink:NamedThing obsolete chorea minor tmpaxzxjjyw_mondo_relaxed.owl GARD:0006057 obsoleted in source True https://rarediseases.info.nih.gov/diseases/6057/chorea-minor|https://github.com/monarch-initiative/mondo/issues/2749 owl:Class UMLS:C0265490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2007059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:41 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/112410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399219006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0269106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:397803000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:85777005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3805239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1709052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1304191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155690 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68072000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237965005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:34168003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:314429009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/116800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:372095001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS606176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN073989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:414783007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:525738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0043234 biolink:NamedThing 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MONDO:0044974 biolink:NamedThing obsolete disease of supramolecular complex tmpaxzxjjyw_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class UMLS:C1849055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:218436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS168600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716381003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:369929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:33409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/163500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/275120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:496641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:53698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0010418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609745 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tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:330206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92296004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS162091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:330064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0281332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0473586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3715192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/164330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0016395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/156530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45382000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2211689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:75392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4955 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MESH:C563496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:494444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77128003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842316 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718756005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0041008 biolink:NamedThing obsolete contact dermatitis caused by poison oak tmpaxzxjjyw_mondo_relaxed.owl contact dermatitis due to poison oak|contact dermatitis caused by poison oak SCTID:200824008|UMLS:C0263283 True owl:Class SNOMEDCT:200824008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:164823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10039483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47374004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766982000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/130400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238700008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10023497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS179010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1415005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://purl.oboInOwllibrary.org/oboInOwl/po#Gymnosperms biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty UMLS:C1333009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703508009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87211000119104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:118930001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class https://omim.org/entry/609750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89723004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3661523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:498481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/156620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765744006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/200100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722453009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10010370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/250940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:63260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722452004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C62601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS186500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702772003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715988005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3502417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4016301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277617004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562587 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/271110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:88639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/268210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:25762009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/162700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718632004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D024821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15847003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765746008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63122002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:94600009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0477355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1299239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:142811000119104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3165028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C41236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C89332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702424003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007641 biolink:NamedThing obsolete Futcher line tmpaxzxjjyw_mondo_relaxed.owl Voigt lines|Futcher line|pigmentary demarcation lines OMIM:137000 This should not be classified as a disease. The OMIM refs are from 1938, 1940, and 1975, nothing more recent. The language in the entry is dated. True https://github.com/monarch-initiative/mondo/issues/2148 owl:Class https://omim.org/entry/137000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/153550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79674009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C133727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:49827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:282124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234347009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/117210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:446096008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716092007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10051526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:10623005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:314998002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56787009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10052210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:417570003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1762 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205506004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726349006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399463004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:276241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/256840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2826178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81817003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C580130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:3548001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:71212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015897 biolink:NamedThing obsolete rare hyperparathyroidism Rare hyperparathyroidism. tmpaxzxjjyw_mondo_relaxed.owl rare hyperparathyroidism MONDO:0001741 Orphanet:181408 ICD10:E21.1|ICD10:E21.3|ICD10:E21.0|UMLS:C0020502|ICD10:E21.2 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class DOID:5364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92634009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C95596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl IAO:0000112 biolink:NamedThing example of usage A phrase describing how a term should be used and/or a citation to a work which uses it. May also include other kinds of examples that facilitate immediate understanding, such as widely know prototypes or instances of a class, or cases where a relation is said to hold. tmpaxzxjjyw_mondo_relaxed.owl GROUP:OBI: example of usage PERSON:Daniel Schober owl:AnnotationProperty UMLS:C1834635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/259660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/121070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4511633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1867924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:415285009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10026828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:269221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:28656008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/106250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0080151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/165200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719582007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403980002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4275099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C579969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:68362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:48686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716008002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:422526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:576074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1704981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:64009001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722205008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:281238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1520069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007632 biolink:NamedThing obsolete fragile site, Distamycin a type, rare, fra(16)(q22.1) tmpaxzxjjyw_mondo_relaxed.owl fragile site, Distamycin a type, rare, fra(16)(q22.1)|FRA16B|fragile site 16Q22|fragile site, DISTAMYCIN A type, RARE, fra(16)(q22.1) MONDO:0002399 OMIM:136580 This is not a disease. True https://github.com/monarch-initiative/mondo/issues/1452 owl:Class https://omim.org/entry/136580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717964007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS213600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:102024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3496228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/188550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/160900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:279928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3495801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:770406002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/243450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/126900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238949006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128130001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/500001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN031715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:399617002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3149074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238070003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN229602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:250932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C178232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4305277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/239510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536296 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:204739008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720566004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C111643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83405000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1302808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253137003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1304295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/233600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:255059002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/187360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0730512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011750 biolink:NamedThing obsolete insulinoma tumor suppressor gene locus tmpaxzxjjyw_mondo_relaxed.owl insulinoma tumor suppressor gene locus OMIM:606960 True owl:Class https://omim.org/entry/606960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C42058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1517121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/109543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13758004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0033822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017274 biolink:NamedThing obsolete autosomal ichthyosis syndrome with other associated signs tmpaxzxjjyw_mondo_relaxed.owl out of scope 2022-03-01 Reason: out of scope. This is an Orphanet grouping class that is considered out of scope for Mondo.Term to consider: inherited ichthyosis' MONDO_0015947|MONDO:0017270 True owl:Class UMLS:C0206637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63480004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C148327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:402029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349539 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C101201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/138930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0028742 biolink:NamedThing obsolete dysostosis with brachydactyly without extraskeletal manifestations tmpaxzxjjyw_mondo_relaxed.owl Orphanet:498451 True owl:Class UMLS:C3280285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C87121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2607948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0016513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29618004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92612007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:110005000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239826001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/250800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:732961003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0259771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79261008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN248510 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:50814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1709308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10015284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:248302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3097 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tmpaxzxjjyw_mondo_relaxed.owl DOID:11907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/252920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1321551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14527007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:189164002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024236 biolink:NamedThing obsolete degenerative disorder A disorder characterized by the progressive loss of function and/or structure of the affected tissues. tmpaxzxjjyw_mondo_relaxed.owl degenerative disease|degenerative disorder NCIT:C27090|UMLS:C1285162|ICD9:796.4|SCTID:362975008 The subclasses were not a disease but a feature or a process. 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:331235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101956 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54036001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31027006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C579880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3163678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C97250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/163800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41962002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10065039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:64745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96344 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:58561002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:182127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0431694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:267532001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254915003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0275619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:63 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/126550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/208080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/309300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:69896004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/304950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:71961003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78642008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:269531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45142002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10014800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3642324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84017003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0520796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3665426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10063042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:448674007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:410049000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/255140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016250 biolink:NamedThing obsolete rare adenocarcinoma of the breast Any of the forms of breast adenocarcinoma that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare breast adenocarcinoma MONDO:0004988 GARD:0012773|Orphanet:213528 ICD10:C50.1|ICD10:C50.3|UMLS:C0858252|ICD10:C50.0|ICD10:C50.8|ICD10:C50.2|ICD10:C50.5|ICD10:C50.6|ICD10:C50.4 True https://rarediseases.info.nih.gov/diseases/12773/rare-adenocarcinoma-of-the-breast|https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:213528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702440000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:235936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:187752007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302849000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235630008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10071575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31992008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10011777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725413002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/130090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031065 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:108991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10013140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1510460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111318005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3806917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:244242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536979 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN197468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:44795003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0234906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253604004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62964007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47384003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10014954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10017324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:370514003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234541006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84121007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10008301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707436001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:230845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60970005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:732956000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:441541008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:250999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN119529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:396347007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10051445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:308425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10043147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60492000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:371965009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10051066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1514905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276821000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10047888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0241961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D059407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS128100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0031111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719848005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/151100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763793004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016997 biolink:NamedThing obsolete hereditary epidermolysis bullosa associated with ocular features tmpaxzxjjyw_mondo_relaxed.owl Orphanet:263676 Obsolete in Orphanet MONDO:0019276 True owl:Class NCIT:C142082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0861855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013596 biolink:NamedThing obsolete nonsyndromic congenital nail disorder 10 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008060 OMIM:614157 True 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725910009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26874 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:416377005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10012750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766815007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS225750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:34516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237795006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10061080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/267480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/126300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:155835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/191700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111293003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:26399002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN119532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D031941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:560 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:36204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1305122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C119032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4540277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10039179 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS300352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/106995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C173542 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/221820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4318747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1514910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0994344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C54293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:434179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562973 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717191005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D053306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/241600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93424 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0524909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254855000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C67560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN845004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0546837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74102009 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131629 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1263902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363410008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0752355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4419 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:44176004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715776003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236302005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0686404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS249210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007573 biolink:NamedThing 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188745007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0023156 biolink:NamedThing obsolete fibular aplasia tmpaxzxjjyw_mondo_relaxed.owl GARD:0008659 HP:0002990 True owl:Class SNOMEDCT:128098009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/256500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:86927009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:597887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/151610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/251190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719016007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716699004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS248370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN240509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4288047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2711248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:435934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl OBO:mondo/patterns/primary_infectious.yaml biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0023033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class DOID:0080090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/135500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13059002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/158600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70041004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:398934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044979 biolink:NamedThing obsolete disease by cell type tmpaxzxjjyw_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class UMLS:C1836503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1291609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0848866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:39390005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238749001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2666 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C112112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10014979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238059005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10008521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/124480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/247100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60676002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:36235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715737004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4318479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017378 biolink:NamedThing obsolete polymicrogyria-turricephaly-hypogenitalism syndrome tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q87.8|Orphanet:2925|UMLS:CN227120 Obsolete in Orphanet MONDO:0000087 True owl:Class ORPHA:2925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0853870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS305620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0856823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237980004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:182083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42861008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92298003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3541319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87827003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717771007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020144 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:318761000119105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D055577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D028361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2609059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0344460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/242300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1844864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/256020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS252011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10062788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1739111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:269206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:26147006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0079293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/164220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/207950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/259700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92109005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/244510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10022599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89444000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000069544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:398318005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:521432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19995004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10063146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C121207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126817006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10035667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609259 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3539003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4540188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5645008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS601462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89182000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:457375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0343084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849096 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tmpaxzxjjyw_mondo_relaxed.owl DOID:8150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:265377002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0005859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:105261000119101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C48452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205481009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C62244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10059593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1562 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10060632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/188700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254677004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72050006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:450322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:221106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:32599008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0338596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237059008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/269200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237939006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565393 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/158000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719521002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/141000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0853031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763218005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/183100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10062997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715482004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0854328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/275000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/264470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/126850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/217000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:301990003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718573009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:51886007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/151000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2939445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3275460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190952002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:195136004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254219004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240105009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/114550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:86095007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:499182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:297232009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:104431000119107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0242645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022201 biolink:NamedThing obsolete has treatment by surgery tmpaxzxjjyw_mondo_relaxed.owl out of scope Reason: out of scope. Term to consider: MAXO:0000004. MAXO:0000004 True https://github.com/monarch-initiative/mondo-build/issues/75 owl:Class MESH:C567718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234590006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3898222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3887461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS224120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1456781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:303011007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716380002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0242490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238085009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C101253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0040100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332477 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/159001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/222500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:181368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003103 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:447961 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717014003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168612 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/276100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0524799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699688008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128596003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1262481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C37979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617694 biolink:NamedThing 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the file. 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50715003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111314 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:229752008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:51084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/256720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126550004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/272750 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:485350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404133000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:23501004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10033828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:416483009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023370 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10052313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN244899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:44145005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:402823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:21381006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237083000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4288544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111936002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62067003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723163000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4305151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234533006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763128009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403967000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:104078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:193466003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4048306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271431 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tmpaxzxjjyw_mondo_relaxed.owl DOID:9274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0282512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/106100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42812006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126882009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363434003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38292009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238757003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1520094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237115002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/308200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10064087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/193670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/102370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1260325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C572845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:400003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94352 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:424002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83225003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C62546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363482009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1996945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:726358004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:276429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718052004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:204521002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/120040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/265380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1367420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10027191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/189960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73692007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79619009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C103126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/172880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764100007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188361007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/156520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:438504004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699955004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205480005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402426007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:420835009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92206006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46206005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0948187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS158810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83076007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:216796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1279296 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73774007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31021007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:423424005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59981001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:221083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:76616003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294994 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10002943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725097006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10050284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3540852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27031003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D059545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765221009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:449420002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10015901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C127907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0151650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:304990002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018729 biolink:NamedThing obsolete genetic vascular tumor An instance of rare vascular tumor that is caused by a modification of the individual's genome. tmpaxzxjjyw_mondo_relaxed.owl rare genetic vascular tumor|genetic rare vascular tumor out of scope UMLS:CN242080|Orphanet:459543 MONDO:0024296 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/3456 owl:Class https://omim.org/entry/614892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D030341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42908004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:182061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/176410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0240903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190681003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D065310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019348 biolink:NamedThing obsolete Ehlers-Danlos syndrome with periventricular heterotopia Ehlers-Danlos syndrome (EDS) with periventricular heterotopia is a newly described variant of EDS. Affected patients exhibit features consistent with EDS, including joint hypermobility, skin fragility and aortic dilatation. They also have periventricular heterotopia (PH), which is characterized by focal epilepsy usually beginning in the second decade of life. Intelligence is generally normal. Some patients also have cardiac anomalies such as patent ductus arteriosus, bicuspid aortic valves, or aneurismal dilatation of the sinus of Valsalva. tmpaxzxjjyw_mondo_relaxed.owl EDS with periventricular heterotopia SCTID:720857006|ICD10:Q79.6|Orphanet:82004|UMLS:C4303790 Obsolete in Orphanet MONDO:0020341 True owl:Class ORPHA:82004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/274200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050147 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:402524007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:69339004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95281009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92560002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1748006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/169600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722468005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:849000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403824007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57777000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/140000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:118940003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335158 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0473230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN570502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721094006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230246005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0854914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10066854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111524003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:22361007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/307830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/123320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C000598640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765484001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/133750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5725006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN118841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1520084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C111905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:195469007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88981003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2749509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:13 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70211005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:21007002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619441 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276952000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719840003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95766002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0282192 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719989007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0549307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717047007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN228396 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10008906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1423873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/refseq/NC_000008.11 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS306955 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C562723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:10741005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720756005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:762282007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN536249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:208513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2960113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:65683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039730 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763829004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D034321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718688008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6754 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/116100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/129000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268436 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/243110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1168198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733029008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:402082 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/232600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238613 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN807949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10003747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2024 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl IAO:0000115 biolink:NamedThing definition The official definition, explaining the meaning of a class or property. Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions. tmpaxzxjjyw_mondo_relaxed.owl GROUP:OBI: 2012-04-05: Barry Smith The official OBI definition, explaining the meaning of a class or property: 'Shall be Aristotelian, formalized and normalized. Can be augmented with colloquial definitions' is terrible. Can you fix to something like: A statement of necessary and sufficient conditions explaining the meaning of an expression referring to a class or property. Alan Ruttenberg Your proposed definition is a reasonable candidate, except that it is very common that necessary and sufficient conditions are not given. Mostly they are necessary, occasionally they are necessary and sufficient or just sufficient. Often they use terms that are not themselves defined and so they effectively can't be evaluated by those criteria. On the specifics of the proposed definition: We don't have definitions of 'meaning' or 'expression' or 'property'. For 'reference' in the intended sense I think we use the term 'denotation'. For 'expression', I think we you mean symbol, or identifier. For 'meaning' it differs for class and property. For class we want documentation that let's the intended reader determine whether an entity is instance of the class, or not. For property we want documentation that let's the intended reader determine, given a pair of potential relata, whether the assertion that the relation holds is true. The 'intended reader' part suggests that we also specify who, we expect, would be able to understand the definition, and also generalizes over human and computer reader to include textual and logical definition. Personally, I am more comfortable weakening definition to documentation, with instructions as to what is desirable. We also have the outstanding issue of how to aim different definitions to different audiences. A clinical audience reading chebi wants a different sort of definition documentation/definition from a chemistry trained audience, and similarly there is a need for a definition that is adequate for an ontologist to work with. definition PERSON:Daniel Schober owl:AnnotationProperty NCIT:C36102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:262521009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/125370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0162809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10038304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/150550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:278044006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:102021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3714581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:248358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707594002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0021828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0376549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10018495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722122000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044228 biolink:NamedThing obsolete eegbqtl Since the initial discovery of the human electroencephalogram (EEG) by {1:Berger (1929)}, it has been speculated that neural oscillations play a broad role in nervous systems and form the basis for higher cognitive functions and consciousness. The presence of a beta/gamma oscillation (18 to 50 Hz) is thought to represent an activated state of the underlying neuronal network. These beta (12-29 Hz) and gamma (30-50 Hz) brain rhythms involve gamma-aminobutyric acid type A (GABA-A) receptor action ({2:Haenschel et al., 2000}; summary by {3:Porjesz et al., 2002}). tmpaxzxjjyw_mondo_relaxed.owl EEGBQTL|ELECTROENCEPHALOGRAPHIC pattern, BETA frequency, quantitative trait locus OMIM:130190 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/130190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:713315007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D052016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73097000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:189099001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/183350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10028047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98722 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/216950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0025286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/188020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:84090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4017065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:397692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000422 biolink:NamedThing obsolete inborn glycogen metabolism disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002412 True owl:Class SNOMEDCT:68237008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:36412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10007476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:37660004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/191440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230769007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/106220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/143850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/236000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3272802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:138044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66329006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4303098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66207005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3267073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:156215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10019904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720851007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:65846009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:127217009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725034002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763528002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:38539003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:89937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3810212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C91762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703298001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0277331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS260370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766759009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS130000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836027 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:64250002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717255008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:198322002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:40191005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C557826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763863002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721904001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/262875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190749000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1274184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:424936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5299007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188993006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:418945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615619 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080474 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:80126007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3178805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1096155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3550478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4275061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128080005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10037688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:82562007 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0151638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/556500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/242600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600467 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024624 biolink:NamedThing obsolete atrophy of lacrimal gland A degenerative disorder that involves the lacrimal gland. tmpaxzxjjyw_mondo_relaxed.owl lacrimal gland degenerative disorder|degenerative disorder of lacrimal gland|lacrimal atrophy|atrophy of lacrimal gland SCTID:91951001|UMLS:C0339119 This is not a true disease, more of a phenotype or process. True https://github.com/monarch-initiative/mondo/issues/2312 owl:Class UMLS:C0339119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0039223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0282528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72621003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235917005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150414 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2149 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10042953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C571912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN034131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:303063000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302162004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10039202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0275911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:43115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10060360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717048002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6920 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:89043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0235238 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10022821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:124593001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:49566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN033863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3552304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400022009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1367654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:125603006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3156 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/271250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707608003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:201091002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:437572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/103230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10036102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1382025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0278863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010394 biolink:NamedThing obsolete leukoencephalopathy-metaphyseal chondrodysplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010275 OMIM:300660 True owl:Class https://omim.org/entry/300660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/193450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS107250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720853005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D058499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10018207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4539991 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254570009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1997740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D060048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:26360005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022482 biolink:NamedThing obsolete apolipoprotein C 2i deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO_0008810 GARD:0000759 True https://rarediseases.info.nih.gov/diseases/759/apolipoprotein-c-2i-deficiency owl:Class SNOMEDCT:254863004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/271665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/182210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D043202 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/211200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0404545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764512003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230374002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47398006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717785002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/173580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13543 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0686172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:697904001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:476102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10038249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3892048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:290836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91496 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/162500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:314515006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:446022000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94334 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109550008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0040086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10059200 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:414603003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:78569004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35031005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1274150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1258090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111399 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126729006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D045723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2748571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:294955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:353295004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/249700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS310500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:196133001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006413 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class ORPHA:93372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0496901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3808988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10944 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188188009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008761 biolink:NamedThing obsolete alpha-2-deficient collagen disease tmpaxzxjjyw_mondo_relaxed.owl Meigel disease|alpha-2-deficient collagen disease GARD:0003454|MESH:C565963|GARD:0000616|UMLS:C1859850|OMIM:203760 This term was retired in GARD because was based in a single report in 1979 about a boy who could have another diagnosis. True https://github.com/monarch-initiative/mondo/issues/1594 owl:Class MESH:C565963 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0431693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:307148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0345907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C156430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1790 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188734009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1290871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:60380001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55434001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:197006009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3272611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:589547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C142079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1377915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707747007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C41366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722461004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3281044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717791000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/157700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:34041001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:108999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:39 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D055882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0600079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/176250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725165009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/167400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:85670002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188732008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1848042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/275100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0340177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN072151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS208540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10016079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10044755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233850007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:40050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015108 biolink:NamedThing obsolete rare non-syndromic intellectual disability Rare non-syndromic intellectual disability. tmpaxzxjjyw_mondo_relaxed.owl rare intellectual disability without developmental anomaly|rare non-syndromic intellectual deficiency|rare non-syndromic intellectual disability|rare NSID MONDO:0000509 Orphanet:101685|GARD:0012633|UMLS:CN226598 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:101685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4273964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703295003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0392317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0021141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10025268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254645002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0005699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0574079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719017003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717256009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001193 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:44897000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0009225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4082937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:197967000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C61252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1925 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:71528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719010001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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https://omim.org/entry/611554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:57 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116812 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/277900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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NCIT:C131687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235796008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59572000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0410606 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015297 biolink:NamedThing obsolete microcephaly-digital anomalies-intellectual disability syndrome tmpaxzxjjyw_mondo_relaxed.owl Kelly-Kirson-Wyatt syndrome Orphanet:137653|UMLS:CN199250|ICD10:Q87.8 Obsolete in Orphanet MONDO:0009622 True owl:Class UMLS:CN199250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCBITaxon:11176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MESH:C565374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277623009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C537791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1260965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565971 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/256000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10008734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363447008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0158288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10067532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:712750007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/171480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234143003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C101328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1969623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87074006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50920009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:76160002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4284284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52448006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:444150000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/201050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31681005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl IAO:0000234 biolink:NamedThing ontology term requester The name of the person, project, or organization that motivated inclusion of an ontology term by requesting its addition. tmpaxzxjjyw_mondo_relaxed.owl The 'term requester' can credit the person, organization or project who request the ontology term. 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563705 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:281560004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864648 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C95752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11823 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254839007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:474347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020622 biolink:NamedThing obsolete blood group--stoltzfus system tmpaxzxjjyw_mondo_relaxed.owl BLOOD GROUP--STOLTZFUS SYSTEM|Sf OMIM:111800 True owl:Class https://omim.org/entry/111800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6477 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230298007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733450008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:359640008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99735 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:201060008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0950112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/259610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:191347008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2609071 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/2926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:313936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5217008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:398316009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/229500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/229700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/304050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10037546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl DOID:0080495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:444911000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763864008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537484 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:21009004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/180350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN233170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN031062 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS603165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702407009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/173560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D053447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9296 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718602007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:39837002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2749050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10063429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/226150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2671 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1300347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:66633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:210576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1997217 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014954 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/163850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128351009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262785 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35929003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/259750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007161 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718897009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0854795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/221200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716585008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85177 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:556955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111404004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:371235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74469006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/187300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/160990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/124500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126978008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:70474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12683 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:82852009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122784 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:129618003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55031000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0023264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:16934004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C134952 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl MESH:D012857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:68416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719011002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276121 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276818002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/182410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0684743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:498700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47505003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/251505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10020803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0275842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0343755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4273970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0011876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4869 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10021530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10029260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:45676007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:436151 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717407006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/208600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4305085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014571 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C66845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/INCATools/ontology-starter-kit/issues/50 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:89939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765212008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54051005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/158400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/189230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718096004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:165661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS258315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/181300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:435819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/235900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720941007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/115665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://en.wikipedia.org/wiki/Fish biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10015487 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/311100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/181270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306527 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72535009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2132 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723448007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:4414005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2677349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7137 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020138 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:68346 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C41354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126848003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:396334002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10066948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3272797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2623 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:710010005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN536247 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10042033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6956 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C125592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10002240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0220687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27621000119100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715404000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0175702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95802009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233604007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:398166 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536598 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715345007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/237800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10050638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10043391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720571006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:36367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:372064008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/104510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:67782005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:566231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75096007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/155900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10008747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616211 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254883003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0262988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017541 biolink:NamedThing obsolete central polydactyly of toes, unilateral tmpaxzxjjyw_mondo_relaxed.owl mesoaxial polydactyly of toes, unilateral|mirror foot, unilateral Orphanet:295183|ICD10:Q69.2 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:364541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/231670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:197601003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716740009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:281222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:453521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:353298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D049914 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55464009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/2665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39851 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1882 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61493004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70476006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763691008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722376008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:320360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C78308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111584000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15545001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/126190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:86500004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7936 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:362991006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703334000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/190400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:31273004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796085 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725464001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/188560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:418801006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012814 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054067 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1847009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10042732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS215500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702418009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763070001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238575004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:30 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723333000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613089 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1707446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10056889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS156850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:89024000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699299001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/223500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95641009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4329608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302826002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044255 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in, 1 Multiple genes influence normal human skin, hair, and/or eye pigmentation. Pigmentation phenotypes influenced by variation in the OCA2 gene are termed SHEP1. The SHEP2 association (OMIM:266300) is determined by variation at the MC1R locus (OMIM:155555) and describes a phenotype predominantly characterized by red hair and fair skin. SHEP3 (OMIM:601800) encompasses pigment variation influenced by the TYR gene (OMIM:606933); SHEP4 (OMIM:113750), that influenced by the SLC24A5 gene (OMIM:609802). Variation in the SLC45A2 (OMIM:606202) and SLC24A4 (OMIM:609840) genes result in the phenotypic associations SHEP5 (OMIM:227240) and SHEP6 (OMIM:210750), respectively. Sequence variation thought to affect expression of KITLG (OMIM:184745) results in the SHEP7 (OMIM:611664) phenotypic association. SHEP8 (OMIM:611724) is associated with variation in the IRF4 gene (OMIM:601900). Polymorphism in the 3-prime untranslated region of the ASIP gene (OMIM:600201) influences the SHEP9 association (OMIM:611742). The SHEP10 association (OMIM:612267) comprises variation in the TPCN2 gene (OMIM:612163), and SHEP11 (OMIM:612271) is associated with polymorphism near the TYRP1 gene (OMIM:115501). tmpaxzxjjyw_mondo_relaxed.owl skin/hair/eye pigmentation 1, blue/Nonblue eyes|skin/hair/eye pigmentation, variation IN, 1|skin/hair/eye pigmentation 1, blue/Brown eyes|SHEP1|eye color, blue/Nonblue|eye color, Brown/blue|Brown eye color 2|skin/hair/eye pigmentation 1, Blond/Brown hair|hair color 3|eye color 3 OMIM:227220 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/227220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C548080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/211890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3274488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126499002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763792009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN229269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721086004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1301359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN068649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C543092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:397923000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719251009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C580364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41674001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN229112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1302999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS105650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/226960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0872084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:64635004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN034020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:276575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/137130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11558 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1841809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:34515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66760008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:312937006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718178006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:423341008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020152 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2239351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/150900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056728 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10811 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68267002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254730000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044246 biolink:NamedThing obsolete nystagmus, voluntary Voluntary nystagmus is a rapid to-and-fro synchronous movement of the eyes that is initiated and maintained by conscious effort. Voluntary nystagmus has a frequency of 10-25 Hz, with an amplitude of up to 6 degrees, and can be maintained for up to 35 seconds. It usually has its first appearance between ages 8 to 15 years. It can be produced in both light and darkness, without fixation, at all eye positions, and even with closed eyes. It is accompanied by oscillopsia with visual blurring (summary by {1:Aschoff et al., 1976}). tmpaxzxjjyw_mondo_relaxed.owl NYSTAGMUS, voluntary OMIM:164170 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/164170 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720825005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:359987004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10002532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554496 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34509 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:494439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:62647006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363409003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83223005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/257600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/4277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/272460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0400972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2479 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75544000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718712005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/160010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C000598644 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/insdc/CM000676.2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617633 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0275654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4446 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C67383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:183651 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/108010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS607411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:54057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716230005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201884 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2939157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5296 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:65288 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN187050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN042654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47344007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92059004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:269533000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C124549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/119650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/medgen/231044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C150601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724837004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:709416009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016131 biolink:NamedThing obsolete spinal muscular atrophy associated with central nervous system anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:207012 True owl:Class MESH:C535759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238525001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2113 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/133190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/252940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178311 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:118602004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:274901004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:197270009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612702 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:230839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763888005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:194375009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720576001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C133744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN035918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3838860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:398079 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:707387004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020671 biolink:NamedThing obsolete susceptibility to ischemic stroke tmpaxzxjjyw_mondo_relaxed.owl cerebrovascular accident|cerebral infarction|stroke, ischemic OMIM:601367 Phenotype and not a disease. 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/258840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002178 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:155889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7699004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52759 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:71275 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/188800 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:476406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563315 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:32595002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2956 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333820 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72007001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721764008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:75 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/203600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10015099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98973 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:444002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716655008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C74997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/157200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:25289003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537612 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:486815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235889003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl GO:0072511 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class NCIT:C3365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/175780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/123500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0854912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:69494008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:158061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/134700 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/304900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/184300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403990005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020181 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C132826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2749128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070118 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109977009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017542 biolink:NamedThing obsolete central polydactyly of toes, bilateral tmpaxzxjjyw_mondo_relaxed.owl mirror foot, bilateral|mesoaxial polydactyly of toes, bilateral Orphanet:295185|ICD10:Q69.2 Obsolete in Orphanet MONDO:0011348 True owl:Class ORPHA:295185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:41842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721236002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202591 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0033196 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:227220 True owl:Class https://omim.org/phenotypicSeries/PS227220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:22649008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2711059 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN035778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:445918001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN230145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0685200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:70594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/263300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:433493000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080456 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000161 biolink:NamedThing obsolete adrenal hyperplasia tmpaxzxjjyw_mondo_relaxed.owl obsolete adrenal hyperplasia (disease) obsolete adrenal hyperplasia (disease) UMLS:C1621895 True owl:Class UMLS:C1621895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS613573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN757794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/insdc/CM000681.2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335687 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6380 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97978 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:80394007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8787 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10053042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764812008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52713000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717827000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C103921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0266172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044766 biolink:NamedThing obsolete Marfan Syndrome 3 tmpaxzxjjyw_mondo_relaxed.owl MFS 3|Marfan syndrome type 3 GTR:AN0100578|UMLS:CN035813|GTR:AN0100577 True owl:Class UMLS:CN035813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/114650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:276509008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717941005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10036063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/266810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:436182 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92559007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0042492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class https://omim.org/entry/615529 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511091 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213746 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN036342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/125400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764440006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128106003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:15890002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0079218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277466009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/262300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:220497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:449072004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/157400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/137940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C580150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:369 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139406 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0006008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403545005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/215150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363412000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0340035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764957003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:56989000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1837552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363009005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/190100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/156240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0265985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C130989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90119 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0410485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0235782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10038804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/500009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1846164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:373604002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020263 biolink:NamedThing obsolete spinocerebellar ataxia with oculomotor anomaly tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98693 True owl:Class ORPHA:98693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060603 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70348004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:213751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715788001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:416010008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/301200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7071007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333016 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719397009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207061 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/248510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/refseq/NC_012920.1 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111527005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:477768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10071135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565454 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C535774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class UMLS:C0026703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10063361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/271150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:857 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3550921 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:207012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10053867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0341692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:229247004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/148210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35923002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:708031000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237891005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/263550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C119028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class NCIT:C35010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/222765 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/266510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611222 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92411005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565425 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C134941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0206657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751605 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/173200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:449824004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0854486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:473418001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2959585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47604008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723556008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS161950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:415764005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008220 biolink:NamedThing obsolete pepsinogen 3, group 1 tmpaxzxjjyw_mondo_relaxed.owl PGA3|pepsinogen 3, group I|pepsinogen I--second locus|pepsinogen 3, Group type 1 OMIM:169710 This entity is not a disease. True https://github.com/monarch-initiative/mondo/issues/2521 owl:Class https://omim.org/entry/169710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3160720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/156232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C38157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS604391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0553669 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:33111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1337036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931019 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10013706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:404070007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847836 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0338575 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:609562003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS269500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233913007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C89799 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615342 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1282975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:83330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233982006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230380005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020271 biolink:NamedThing obsolete phakomatosis with eye involvement tmpaxzxjjyw_mondo_relaxed.owl Orphanet:98701 True owl:Class MESH:D005271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/209970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/180870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111187 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766709000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766240006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238769 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109996008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33666009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236403004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/256550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537480 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN236383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722944006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021007 biolink:NamedThing obsolete stage of disease tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MESH:C563977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/201710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017495 biolink:NamedThing obsolete congenital absence of upper arm and forearm with hand present, bilateral tmpaxzxjjyw_mondo_relaxed.owl humero-radio-ulnar intercalary transverse meromelia, bilateral ICD10:Q71.1|ICD10:Q71.13|Orphanet:295087 Obsolete in Orphanet MONDO:0017441 True owl:Class ORPHA:295087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C74999 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN242080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4304741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609223 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018299 biolink:NamedThing obsolete sphingolipidosis with epilepsy tmpaxzxjjyw_mondo_relaxed.owl Orphanet:371442 True owl:Class MESH:D001660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:750009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C96540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536695 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603278 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:33076008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536303 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0432554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10002255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10011490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363367000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6404 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/refseq/NC_000021.9 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:73267 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5694 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:506075 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000068116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034188 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284993 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766813000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42681006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763715007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703231005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:48130008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:7265005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN043677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:262653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10022611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333092 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2510 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:48431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:57777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:29491004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200245 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75241009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:128239009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:35912001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/170500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:43814000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27909 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1515289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10029748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10018386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6074 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0178421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:208596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0007133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:67787004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/179900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:387742006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607323 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537610 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:501 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:87665008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79273 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1960469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717052002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149523 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C48900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050754 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D013281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/125300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:180253 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1963674 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:417 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0238120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0085696 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608615 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:500533 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280325 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/166910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613453 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/400044 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010301 biolink:NamedThing obsolete thrombocythemia, X-linked tmpaxzxjjyw_mondo_relaxed.owl obsoleted in source MONDO:0019111 True owl:Class https://github.com/monarch-initiative/mondo/issues/3172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702575003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254875009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1229 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/256120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C49107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/133239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0376117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:85551004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3279793 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:609 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3888 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015422 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN633295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/221770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9407 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74911008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:21070001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2675014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008475 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:464764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7982 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10065868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C53707 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D046110 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:998008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:166311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19598007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10047586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3146244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1260915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2816 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017433 biolink:NamedThing 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MONDO:0020151 biolink:NamedThing obsolete rare palpebral disease Any of the forms of eyelid disease that have a rare incidence. tmpaxzxjjyw_mondo_relaxed.owl rare eyelid disease MONDO:0003382 Orphanet:98560 UMLS:C0015423 True https://github.com/monarch-initiative/mondo/issues/254 owl:Class ORPHA:98560 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/204900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN241791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66259004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0409980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN229208 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C565553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:11442006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:140450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4049066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41114007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4510744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/306990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5747 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722392003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3892039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/108200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564468 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566668 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95457 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl DOID:5179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/307300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:17866004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63922003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007969 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537205 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069039 biolink:NamedThing 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0376358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050545 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309324 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608996 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0522631 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4442 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/304350 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855986 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C575214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0473555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:388980004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:261938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4303163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017593 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90036 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:498251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3946 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54576000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:32883009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10059589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717821004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3490 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:766751007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/193230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0877445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:512017 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:124465002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060772 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10029400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618625 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1672 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7726 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:57054005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:187658004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718633009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/108721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717228004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:289553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:79586000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:300530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1562462 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3278138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10069682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10065657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10003664 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090072 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000805 biolink:NamedThing obsolete snail allergy A allergic disease involving a snail food product. tmpaxzxjjyw_mondo_relaxed.owl snail food product allergic disease|allergy of snail food product MONDO:outOfScope DOID:0060530 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109420003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:232086000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C548078 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310721 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10003650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363668000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000806 biolink:NamedThing obsolete horned turban snail allergy A allergy involving a Turbo cornutus. tmpaxzxjjyw_mondo_relaxed.owl allergy of Turbo cornutus|Turbo cornutus allergic disease|Turbo cornutus caused allergic disease|Turbo cornutus allergy MONDO:outOfScope DOID:0060531 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:158124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10066387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:713293002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202326 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155302 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C580280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150773 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:210110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35775 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9168 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725146001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3888004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:371521007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466688 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:76976005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:372109003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN031421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:725591002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111516 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017588 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0393771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565437 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2983 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10003827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:69463008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/236500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13404009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126951006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:281411007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3086 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217335 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C120191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:446995005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718761007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277522009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63198006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:372065009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:85136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010859 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719684000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:8197001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110781 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10052841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4015146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/231095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C142173 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10054935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:709417000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS210200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856128 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D065646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859209 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:255241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012482 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:109853004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0028841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3165 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:220465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1260327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2870 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D029241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719837003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C565734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99745 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:190981001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565947 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:430725003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854488 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:155896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/208550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D011305 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0041974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720858001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4048549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66881004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020538 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764845008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:464318 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/250850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618369 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399877 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5933 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10066801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535871 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719250005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:466794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719379001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8517 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1511284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:271853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D055673 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12959 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:108985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733600007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201112 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/148840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61003004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C121985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C113397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857777 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080367 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS600513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615378 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0730308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:765096001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68092007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536956 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254096001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346164 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN240514 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3374 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10802 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2676465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:168624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/refseq/NC_000001.11 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:68266006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D060585 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0340184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1710113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/137760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:370002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:231527003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764961009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/dosumis/dead_simple_owl_design_patterns/ biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:269218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719164000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1370504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702378002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73442001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268262 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849762 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399808 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46263000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110757 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020269 biolink:NamedThing obsolete syndromic ichthyosis associated with ocular features A ichthyosis associated with ocular features that is part of a larger syndrome. tmpaxzxjjyw_mondo_relaxed.owl syndromic ichthyosis associated with ocular features|syndrome associated with ichthyosis associated with ocular features UMLS:CN227843|Orphanet:98699 This grouping class is no longer needed. True https://github.com/monarch-initiative/mondo/pull/2571 owl:Class ORPHA:98699 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN248525 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536397 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:165658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080408 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:209886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/162370 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613087 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:182747006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/601977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:64692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3891714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4082198 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014536 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702829000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715736008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535677 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239020008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221264 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:16553002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19885005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS614328 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10064581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:171844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:50189006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:395505000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015418 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717335009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0349579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:363976 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0280796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C98989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:521 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/147750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:123953004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111272 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5241 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94853 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/180104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562932 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0271093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13746004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5713 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126967000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/248770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723439002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/127200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:439224 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:50943 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715339004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79493 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14100003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:10893003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:75072002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66063001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/257270 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:448710000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:448348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12445 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C62580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18109005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110776 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254685 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613852 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237724 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/234580 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN030711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3760 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl FOODON:03420174 biolink:NamedThing obsolete: part of plant Anatomical part of a plant, such as fruit, seed, pod, leaf, stem or flower as well as the whole plant. tmpaxzxjjyw_mondo_relaxed.owl True http://langual.org owl:Class ORPHA:95718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857568 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615184 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:247815 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009466 biolink:NamedThing obsolete neuronal intestinal pseudoobstruction tmpaxzxjjyw_mondo_relaxed.owl term split MONDO:0023961 True owl:Class SNOMEDCT:732928005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1720779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253030004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619228 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044276 biolink:NamedThing obsolete skin/hair/eye pigmentation, variation in, 11 tmpaxzxjjyw_mondo_relaxed.owl skin/hair/eye pigmentation, variation IN, 11|skin/hair/eye pigmentation 11, blue/Nonblue eyes|Melanesian blond hair|SHEP11 OMIM:612271 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/612271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606764 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85225 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85023 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:500095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:279904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:486 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C168774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1142432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:699420006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060031 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92638 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310679 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263725 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/256150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C538343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717459000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10013957 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45627 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:34528009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012030 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:931 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050992 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:52 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563111 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/166230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3150875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615284 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3873472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4511053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237705001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C43356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1306214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567863 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/146590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0032226 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850865 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0743332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10004661 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4277 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:277574007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10060755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99939 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000801 biolink:NamedThing obsolete green mud crab allergy A allergic disease involving a green mud crab. tmpaxzxjjyw_mondo_relaxed.owl green mud crab allergic disease|allergy of green mud crab|crab allergy|Scylla paramamosain allergy MONDO:outOfScope DOID:0060526 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class DOID:0060526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS209850 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153384 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10060908 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C101216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:73246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0080040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324977 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702427005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/109160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D056768 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1880102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618917 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111395007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9551 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111599 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719824001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/168860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254702000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10038294 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2751864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:178029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:91521000119104 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122576 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:974 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:81407003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718175009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563341 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718212006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0027822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014594 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/237100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11240 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:58040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5154 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:988 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613960 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231736 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615604 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:54251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702349003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565862 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:16814004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1833503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/276600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0005940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C116343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C13271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:521123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:50945 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111323005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C62505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110134 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C117312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1847614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043207 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10026829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080443 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/238340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34731 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110634 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D010005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751942 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:312133006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715753001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861714 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019292 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021665 biolink:NamedThing obsolete Refsum disease A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy. tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85043 This class was intended for representing the union of infantile and adult Refsum diseases, but these are distinct with no genetics or phenotypes in common. MONDO:0009958 True owl:Class MESH:C536581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615817 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:703532002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227834 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5703 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008928 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3809965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152196 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5937 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C82981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1073003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3261 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126677000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:709018004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600269 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008091 biolink:NamedThing obsolete abnormal neutrophil chemotactic response tmpaxzxjjyw_mondo_relaxed.owl neutrophil migration|neutrophil chemotactic response|NM out of scope OMIM:162820 MONDO:0009646|MONDO:0018037|MONDO:0007883 True owl:Class https://github.com/monarch-initiative/mondo/issues/3801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070204 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0392051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:35878 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:1926006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:281 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/269150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609311 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832949 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:447 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:363476006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:157832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020625 biolink:NamedThing obsolete blood group--wright antigen tmpaxzxjjyw_mondo_relaxed.owl WR|BLOOD GROUP--WRIGHT ANTIGEN|Wright Blood Group Antigen OMIM:112050 True owl:Class https://omim.org/entry/112050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:410052008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2347 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2922 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85227 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/226100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609055 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763743003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:723411003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:365258000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3483 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565249 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/149000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536321 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41545003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN237578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0406660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850987 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/167900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3554117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C67012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:198324001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203767 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:68411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314970 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721091003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63042009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2135 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0276046 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0012553 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/223360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537676 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1096903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3640053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41364008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN035866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0862312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020659 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:500464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:186772009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99058 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:14077003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:126692004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90340 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92563 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40236 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:102379 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4561 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN536252 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/123000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95513 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:83586000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3272528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/100800 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604432 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:404466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0022739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:371486001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:225689 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:197432008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:30496006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:22064009 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:270881008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84541 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155420 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300653 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:73305009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567938 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0333572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN221667 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859407 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853247 biolink:NamedThing 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92087008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060893 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930890 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049048 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567572 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10037451 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1761 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl IAO:0000111 biolink:NamedThing editor preferred term The concise, meaningful, and human-friendly name for a class or property preferred by the ontology developers. 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:90584004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3502353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/167320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:324416 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1860646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334358 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614879 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4303546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4072872 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018419 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C563290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:397810006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/259440 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751739 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:86839 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:92289001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0015190 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13306 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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ORPHA:295140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205838 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4014540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4518574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111351 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004239 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55822004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:91140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:61663001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017540 biolink:NamedThing obsolete postaxial polydactyly of toes, bilateral tmpaxzxjjyw_mondo_relaxed.owl ICD10:Q69.2|Orphanet:295181 Obsolete in Orphanet 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tmpaxzxjjyw_mondo_relaxed.owl DOID:0080093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/619478 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715666007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567819 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154304 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C151898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2174 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:592574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:207036003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537586 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9597 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0005398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268445 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:54099005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268322 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10854 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702379005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020143 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10969 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207035 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19034001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843285 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D007984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0342552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:95531001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0846967 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613843 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0376286 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537343 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720575002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3169 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3706 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D057831 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1861232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0264439 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050738 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931589 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0033377 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/181600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8985 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7235 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613310 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14392 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0054749 biolink:NamedThing obsolete body mass index quantitative trait locus 19 tmpaxzxjjyw_mondo_relaxed.owl obesity, Susceptibility to|BMIQ19|body MASS index quantitative trait locus 19 OMIM:617885 True owl:Class https://omim.org/entry/617885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0029421 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/215600 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C537616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2746083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110841 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225364 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537471 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1335979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:214 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4299 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0348426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63844009 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310623 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0242635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200997 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN620433 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604271 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0346319 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C118460 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:302847003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:4120002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044236 biolink:NamedThing obsolete hepatitis b vaccine, response to More than 2 billion people have been infected with the hepatitis B virus (HBV; see OMIM:610424), and more than 350 million of these people are chronic carriers. Each year more than half a million die as a result of acute or chronic HBV infection. Vaccination has been highly successful at preventing new HBV infections and has been implemented into the national immunization programs of more than 150 countries. However, the immune response to HBV vaccination varies greatly among individuals, with 5 to 10% of healthy adults failing to produce protective levels of antibodies. Several factors have been implicated in determining the response to HBV vaccination, including physical factors, such as age, gender, obesity, immunosuppression, and smoking, as well as variation in genes of the immune system (summary by {2:Davila et al., 2010}). tmpaxzxjjyw_mondo_relaxed.owl HEPATITIS B vaccine, response to|HBV vaccine, response to OMIM:142395 Obsoleted as it represents a trait or is a legacy entry True owl:Class https://omim.org/entry/142395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:410042009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2608 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39934 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0149955 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618279 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763407008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/226000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93578 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733467001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5723 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10003094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1060 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/263400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/144755 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044971 biolink:NamedThing obsolete disease of macromolecular complex tmpaxzxjjyw_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. True https://github.com/monarch-initiative/mondo/issues/3661 owl:Class https://omim.org/entry/123400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001855 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:764688002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C9133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332197 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4885 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0034535 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202199 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0751965 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733520002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:702351004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27912 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020607 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724227000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C128373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95431 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931682 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3813 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3186 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94409 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004320 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SNOMEDCT:58214004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716772007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0270849 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D054975 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2673649 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613387 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1849779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188239000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111405003 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:313846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0272263 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:542643 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612254 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/236670 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060219 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518737 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090010 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/238950 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:485 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225361 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537268 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536403 biolink:NamedThing 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NCIT:C5494 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0796663 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3281045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1333481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2919796 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3449 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10064911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:77243 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:400140006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN239583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2349952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:23067006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:263355 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10066131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4362 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0744898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:389158007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6951 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70189005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240699006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:427213005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:401935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl IAO:0000119 biolink:NamedThing definition source Formal citation, e.g. identifier in external database to indicate / attribute source(s) for the definition. Free text indicate / attribute source(s) for the definition. EXAMPLE: Author Name, URI, MeSH Term C04, PUBMED ID, Wiki uri on 31.01.2007 tmpaxzxjjyw_mondo_relaxed.owl Discussion on obo-discuss mailing-list, see http://bit.ly/hgm99w|GROUP:OBI: definition source PERSON:Daniel Schober owl:AnnotationProperty DOID:0110106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:278697001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6194 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:16297002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035333 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293964 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:80967001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:444458 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618958 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6923 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:169142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352740 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:72115001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0398783 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614837 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D002780 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D015715 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:236432001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:27618009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42012007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:167635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3051 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617080 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2864 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10825 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://github.com/obophenotype/cell-ontology/issues/786 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tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111504 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4691 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:37748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253006001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3715216 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718774001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:724208006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12712 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C79596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C79573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763884007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617412 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/176200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1331534 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1652 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:13596001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10030155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/609029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D050032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/166990 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715201005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1968556 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN202160 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0391826 biolink:NamedThing 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/220300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001679 biolink:NamedThing obsolete crater-like holes of optic disc tmpaxzxjjyw_mondo_relaxed.owl crater-like optic disc holes DOID:13295|ICD9:377.22 Obsolete as represents a phenotypic feature/finding (todo: add to HPO) True owl:Class DOID:13295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131506 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3528 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/133701 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832399 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS145000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:123844007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1260899 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000505 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:768554008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716379000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334039 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN205038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605827 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/112910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3043 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13365 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1839114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9786 biolink:NamedThing 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SNOMEDCT:399107008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66071002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0037280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0178829 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:80690008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN229100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10052339 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225258 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0080276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566146 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1970011 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300491 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0030805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4391 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1832998 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7427 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/617405 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D009886 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607734 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl IAO:0000232 biolink:NamedThing curator note An administrative note of use for a curator but of no use for a user tmpaxzxjjyw_mondo_relaxed.owl curator note PERSON:Alan Ruttenberg owl:AnnotationProperty SNOMEDCT:23150001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2972 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845845 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11088 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:319574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/108720 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D016142 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27029 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019064 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618175 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111403 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4778 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5520 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141022 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:397868007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10016632 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:49823009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10055206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:721842008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:187777008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/311050 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225368 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN206233 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/249000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:70070008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:450697004 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DOID:0111049 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535331 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C26744 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:18260003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716586009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10053678 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200898 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040962 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/245150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1843183 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024131 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:102373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0008526 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0042636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239892009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:267660007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399584 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/245400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006832 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613953 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300809 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722285005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/237300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/177980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C117295 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D005833 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35136 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616248 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/185300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN036129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/161550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006620 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10058297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:449156009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C8095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:293621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1854244 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618751 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3821 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080711 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C39856 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4479313 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:66729008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN029402 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110926 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88687001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4956 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/602200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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https://omim.org/entry/619026 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:141171 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10049567 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C2860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C87145 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719990003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:199251 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35287 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C122662 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/122470 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2779 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1835320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:716994006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:758 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6637 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:284282 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:359717002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237292005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:41864002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5495 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/607101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610338 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:137867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6895 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268748 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0947622 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4540232 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84727000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74928006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050913 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3924 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/136630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0263283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:188988008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060307 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566337 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4519 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/230650 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733195008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618828 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1852200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C75459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:59990008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/225280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:52918004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/204200 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN207337 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:6489 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566803 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99045 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226150 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0019880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225411 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1266018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1853215 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D052018 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C36076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562861 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/140500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:280930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0043349 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5153 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537901 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856054 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1840388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:264935 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D003866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3499 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/605552 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10016675 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155336 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080213 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C536826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:329883 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:774 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:5562006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567786 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:512260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012806 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615966 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10013916 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/145350 biolink:NamedThing 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:419153005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93546 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:275798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564473 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931127 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:19065005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS242300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:445928005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0152081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79083 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4159 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:371582002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:718217000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10026822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D017109 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1838979 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:715807002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:206559 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:352309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C40242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10057069 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14497 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:100081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535415 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310716 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:117 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN229258 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/137280 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:314621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:238616 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070090 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151752 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864873 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/615157 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/241410 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:230558006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309256 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D000795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1275081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0175693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391381 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0339436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98981 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/271930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151070 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/202660 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254874008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720496006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268129 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2748508 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0267436 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS253600 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060116 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1304512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84641 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35025 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2212006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1856053 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3804 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5842 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C536717 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080550 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tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1373 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C45636 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0018915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050429 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1864902 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:124202004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0522624 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:252015 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:217581 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:10444 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268242 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111573 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0410214 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C94830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0268626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10013611 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4274081 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2848 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857530 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/235400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:443098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1463 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1865234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4054549 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3539507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612968 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:239872002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/147260 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:73014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:403435005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036830 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/611544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0154756 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:234451005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:432504007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2034 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1112474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:42402006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018298 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C48829 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/159550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C115221 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/213400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3574 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98141 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0156344 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:763400005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0038557 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:304603007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/603383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1863704 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155733 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D004887 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535391 biolink:NamedThing 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SNOMEDCT:111409009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/211390 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10064257 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:201163007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001948 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1855647 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:95617 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199596 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332891 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614376 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616353 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253997002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN226905 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1845094 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3360 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7459 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080195 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10058300 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1866742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0795805 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201167 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9892 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:371631005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D019121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:172 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009322 biolink:NamedThing obsolete halo nevi tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006778 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tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614732 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0020522 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:733471003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1859093 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0070317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129868 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10011502 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:237914002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:163693 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C34807 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98984 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1851710 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129866 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:77252004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C565824 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111430 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110655 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131630 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614021 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:719300001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3301 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2907 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11782 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1331544 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:138 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:22830006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060041 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080191 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https://omim.org/entry/300428 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C50515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535388 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79382 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0004681 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080579 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1995 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564968 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN029274 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060218 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563697 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044977 biolink:NamedThing obsolete disease of receptor activity tmpaxzxjjyw_mondo_relaxed.owl out of scope This is a grouping class- it is difficult to maintain the children terms and it was determined that is no longer needed. 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SNOMEDCT:722006004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:418470004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C548014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1334645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0221014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238758008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84771 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8466 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:64741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1519826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/236795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN199246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:233908008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0334507 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1766 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:99 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6904 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1318550 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/271400 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1274297 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:90646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4225398 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600795 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2176 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C99056 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931052 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5844 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:446474007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080452 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:251515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D012465 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN536255 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:235908005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/261590 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C566366 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:915 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:74851005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:3602 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6618 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:720857006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563020 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13492 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D006566 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/614822 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1337012 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C567554 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN203291 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1368910 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4212 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:70595 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:97548 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN776903 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0014068 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4383 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0026847 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604356 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:458798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553989 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5363 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200481 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/613876 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3898569 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7708 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155372 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4846 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:36426 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1244 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2033 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C35592 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/308500 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/300518 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1868114 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UBERON_CORE:layer_part_of biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0001115 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BFO:0000167 biolink:NamedThing has participant at all times tmpaxzxjjyw_mondo_relaxed.owl BFO_0000167|BFO_0000167 BFO_0000167s|BFO_0000167s BFO_0000167ed|BFO_0000167ed owl:ObjectProperty OBO:mondo#part_of_progression_of_disease biolink:NamedThing part of progression of disease tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:pato#reciprocal_of biolink:NamedThing reciprocal_of q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e.|q1 reciprocal_of q2 if and only if : q1 and q2 are relational qualities and a phenotype e q1 e2 mutually implies a phenotype e2 q2 e. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#disease_triggers biolink:NamedThing disease triggers tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:cl#lacks_part biolink:NamedThing lacks_part tmpaxzxjjyw_mondo_relaxed.owl http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 ?Y|http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 ?Y owl:ObjectProperty OBO:cl#lacks_plasma_membrane_part biolink:NamedThing lacks_plasma_membrane_part tmpaxzxjjyw_mondo_relaxed.owl http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 (http://purl.obolibrary.org/obo/GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)|http://purl.obolibrary.org/obo/BFO_0000051 exactly 0 (http://purl.obolibrary.org/obo/GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y) owl:ObjectProperty OBO:mondo#disease_shares_features_of biolink:NamedThing disease shares features of tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#has_functional_parent biolink:NamedThing has functional parent tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0001108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:channels_from biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#has_onset biolink:NamedThing has onset tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000126 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:conduit_for biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:nbo#by_means biolink:NamedThing by_means tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:filtered_through biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000096 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000122 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000124 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0001107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:pato#has_cross_section biolink:NamedThing has_cross_section s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2.|s3 has_cross_section s3 if and only if : there exists some 2d plane that intersects the bearer of s3, and the impression of s3 upon that plane has shape quality s2. tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:distally_connected_to biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:extends_fibers_into biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#is_enantiomer_of biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0015014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0015101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:proximally_connected_to biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#disease_has_basis_in_accumulation_of biolink:NamedThing disease has basis in accumulation of tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty disease_has_basis_in_development_of biolink:NamedThing disease_has_basis_in_development_of tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:exo#interacts_with_an_exposure_stressor_via biolink:NamedThing interacts_with_an_exposure stressor_via tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:anteriorly_connected_to biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty disease_causes_feature biolink:NamedThing disease causes feature tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty disease_responds_to biolink:NamedThing disease responds to tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BFO:0000052 biolink:NamedThing inheres in at all times tmpaxzxjjyw_mondo_relaxed.owl BFO_0000052|BFO_0000052 BFO_0000052s|BFO_0000052s BFO_0000052ed|BFO_0000052ed owl:ObjectProperty has_onset_during_or_after biolink:NamedThing has_onset_during_or_after tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:site_of biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:subdivision_of biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:envo#has_increased_levels_of biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0001113 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:cl#has_not_completed biolink:NamedThing has_not_completed tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000107 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0001106 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty ENVO:01001307 biolink:NamedThing partially_surrounded_by x partially_surrounded_by y if and only if (1) x is adjacent to y and for the region r that is adjacent to x, r partially overlaps y (2) the shared boundary between x and y occupies a non-trivial proportion of the outermost boundary of x|x partially_surrounded_by y if and only if (1) x is adjacent to y and for the region r that is adjacent to x, r partially overlaps y (2) the shared boundary between x and y occupies a non-trivial proportion of the outermost boundary of x tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:exo#interacts_with_an_exposure_receptor_via biolink:NamedThing interacts_with_an_exposure_receptor_via tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#has_onset_before biolink:NamedThing has_onset_before tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#has_parent_hydride biolink:NamedThing has parent hydride tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:posteriorly_connected_to biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:cl#has_completed biolink:NamedThing has_completed tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000098 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:channels_into biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty RO:0002218 biolink:NamedThing obsolete has active participant x has participant y if and only if x realizes some active role that inheres in y|x has participant y if and only if x realizes some active role that inheres in y tmpaxzxjjyw_mondo_relaxed.owl True owl:ObjectProperty BSPO:0000121 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty MAXO:0000864 biolink:NamedThing therapeutic uses Uses of chemicals which affect the course of conditions, diseases, syndromes or pathology to benefit the health of an individual.|Uses of chemicals which affect the course of conditions, diseases, syndromes or pathology to benefit the health of an individual. tmpaxzxjjyw_mondo_relaxed.owl drug uses|pharmocological uses owl:ObjectProperty BSPO:0001101 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000108 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:protects biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BFO:0000057 biolink:NamedThing has participant at some time tmpaxzxjjyw_mondo_relaxed.owl BFO_0000057|BFO_0000057 BFO_0000057s|BFO_0000057s BFO_0000057ed|BFO_0000057ed owl:ObjectProperty BSPO:0005001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000123 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:sexually_homologous_to biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:mondo#predisposes_towards biolink:NamedThing predisposes towards tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#is_substituent_group_from biolink:NamedThing is substituent group from tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0015102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:exo#interacts_with biolink:NamedThing interacts_with tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty FOODON:00001301 biolink:NamedThing has food substance analog tmpaxzxjjyw_mondo_relaxed.owl owl:SymmetricProperty UBERON_CORE:channel_for biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000100 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000097 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty UBERON_CORE:synapsed_by biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty OBO:chebi#is_tautomer_of biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty BSPO:0000099 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:ObjectProperty MONDO:0004676 biolink:NamedThing obsolete progressive myoclonus epilepsy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020074 True owl:Class MONDO:0002439 biolink:NamedThing obsolete stress polycythemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019538 True owl:Class MONDO:0006725 biolink:NamedThing obsolete diabetic angiopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000960 True owl:Class MONDO:0004025 biolink:NamedThing obsolete spinal cord embryonal tumor, not otherwise specified tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006426 True owl:Class MONDO:0002084 biolink:NamedThing obsolete neuroectodermal tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005462 True owl:Class MONDO:0019069 biolink:NamedThing obsolete rhabdoid tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002728 True owl:Class MONDO:0100140 biolink:NamedThing obsolete mild COVID-19 infection A COVID-19 infection that presents with various signs and symptoms (e.g., fever, cough, sore throat, malaise, headache, muscle pain) without shortness of breath, dyspnea, or abnormal imaging. tmpaxzxjjyw_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0016519 biolink:NamedThing obsolete keratosis follicularis spinulosa decalvans tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000136 True owl:Class MONDO:0012026 biolink:NamedThing obsolete myotonia, potassium-aggravated tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018959 True owl:Class GO:0100021 biolink:NamedThing obsolete regulation of iron ion transport by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates iron ion transport. tmpaxzxjjyw_mondo_relaxed.owl regulation of iron ion import by transcription from RNA polymerase II promoter True owl:Class MONDO:0019798 biolink:NamedThing obsolete acute hepatic porphyria tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002520 True owl:Class MONDO:0001599 biolink:NamedThing obsolete Mikulicz disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019191 True owl:Class MONDO:0003380 biolink:NamedThing obsolete endometrial clear cell adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006191 True owl:Class MONDO:0018641 biolink:NamedThing obsolete paroxysmal nocturnal hemoglobinuria tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100245 Split this term to create a grouping class with acquired and inherited forms as children. True owl:Class MONDO:0006433 biolink:NamedThing obsolete subcutaneous panniculitis-like T-cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019475 True owl:Class MONDO:0013126 biolink:NamedThing obsolete Bartter syndrome, type 4B tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000909 True owl:Class OIO:hasNarrowSynonym biolink:NamedThing has_narrow_synonym tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0100139 biolink:NamedThing obsolete asymptomatic COVID-19 infection A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms across the entire course of the disease. tmpaxzxjjyw_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0015992 biolink:NamedThing obsolete progressive cone dystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000455 True owl:Class MONDO:0004887 biolink:NamedThing obsolete polyarteritis nodosa tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019170 True owl:Class MONDO:0005368 biolink:NamedThing obsolete obsessive-compulsive disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008114 True owl:Class MONDO:0000861 biolink:NamedThing obsolete tubular aggregate myopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008051 True owl:Class MONDO:0002005 biolink:NamedThing obsolete acrodysostosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019797 True owl:Class MONDO:0000280 biolink:NamedThing obsolete Brazilian hemorrhagic fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017877 True owl:Class MONDO:0005158 biolink:NamedThing obsolete coronary heart disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005010 True owl:Class MONDO:0019382 biolink:NamedThing obsolete Colorado tick fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005708 True owl:Class MONDO:0002019 biolink:NamedThing obsolete hypohidrotic ectodermal dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016535 True owl:Class MONDO:0016716 biolink:NamedThing obsolete medulloepithelioma of the central nervous system tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003144 True owl:Class MONDO:0001963 biolink:NamedThing obsolete cerebral degeneration disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005559 True owl:Class MONDO:0000092 biolink:NamedThing obsolete pyloric stenosis, infantile tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001560 True owl:Class MONDO:0000570 biolink:NamedThing obsolete severe combined immunodeficiency due to artemis deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011225 True owl:Class MONDO:0013676 biolink:NamedThing obsolete hypermethioninemia due to adenosine kinase deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100255 Replaced this term with a new term with a new label. True https://github.com/monarch-initiative/mondo/issues/2587 owl:Class MONDO:0009278 biolink:NamedThing obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency tmpaxzxjjyw_mondo_relaxed.owl SCHAD deficiency, formerly terms merged MONDO:0012382 True https://github.com/monarch-initiative/mondo/issues/3977 owl:Class MONDO:0000844 biolink:NamedThing obsolete spondyloepimetaphyseal dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016761 Obsolete in ORDO, consider merge with MONDO:0016761 spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia True owl:Class MONDO:0002500 biolink:NamedThing obsolete gliosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016681 True owl:Class MONDO:0000279 biolink:NamedThing obsolete Venezuelan hemorrhagic fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017876 True owl:Class MONDO:0018196 biolink:NamedThing obsolete germ cell tumor of testis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010108 True owl:Class MONDO:0018139 biolink:NamedThing obsolete scleredema tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0006606 True https://github.com/monarch-initiative/mondo/issues/3847 owl:Class MONDO:0005529 biolink:NamedThing obsolete methylmalonic aciduria and homocystinuria type cblG tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009609 True owl:Class MONDO:0002394 biolink:NamedThing obsolete Leydig cell tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006266 True owl:Class MONDO:0023008 biolink:NamedThing obsolete drachtman weinblatt sitarz syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0023007 True owl:Class MONDO:0005209 biolink:NamedThing obsolete cutaneous T-cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000607 True owl:Class GO:0051198 biolink:NamedThing obsolete negative regulation of coenzyme metabolic process OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme. tmpaxzxjjyw_mondo_relaxed.owl down regulation of coenzyme metabolic process|downregulation of coenzyme metabolic process|negative regulation of coenzyme and prosthetic group metabolic process|negative regulation of coenzyme and prosthetic group metabolism|negative regulation of coenzyme metabolism|inhibition of coenzyme metabolic process|down-regulation of coenzyme metabolic process True owl:Class MONDO:0004023 biolink:NamedThing obsolete hepatoblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018666 True owl:Class MONDO:0003106 biolink:NamedThing obsolete verrucous keratotic hemangioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018734 True owl:Class MONDO:0000109 biolink:NamedThing obsolete basal ganglia calcification, idiopathic tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000720 True owl:Class MONDO:0008657 biolink:NamedThing obsolete vibratory angioedema tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007447 OMIM obsoleted this term and merged it with autosomal dominant vibratory urticaria. True https://github.com/monarch-initiative/mondo/issues/1684 owl:Class MONDO:0000228 biolink:NamedThing obsolete Astrakhan spotted fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005677 True owl:Class MONDO:0043181 biolink:NamedThing obsolete Refsum disease with increased pipecolic acidemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009958 Obsoleted in OMIM. True https://github.com/monarch-initiative/mondo/issues/2590 owl:Class MONDO:0002506 biolink:NamedThing obsolete early myoclonic encephalopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016022 True owl:Class MONDO:0004798 biolink:NamedThing obsolete Sheehan syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019618 True owl:Class MONDO:0010376 biolink:NamedThing obsolete Brooks-Wisniewski-brown syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010407 Obsoleted in OMIM and GARD. True https://github.com/monarch-initiative/mondo/issues/696 owl:Class MONDO:0018524 biolink:NamedThing obsolete intraductal papillary mucinous carcinoma of pancreas tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004285 True owl:Class MONDO:0008144 biolink:NamedThing obsolete osteochondritis dissecans tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017178 True owl:Class MONDO:0000826 biolink:NamedThing obsolete syndromic X-linked intellectual disability Cabezas type tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010306 True owl:Class MONDO:0003877 biolink:NamedThing obsolete cervical adenoid basal carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006132 True owl:Class MONDO:0000582 biolink:NamedThing obsolete immunoglobulin alpha deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000048 True owl:Class MONDO:0016313 biolink:NamedThing obsolete renal cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005086 True owl:Class MONDO:0000856 biolink:NamedThing obsolete Charcot-Marie-Tooth disease type 6 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019551 True owl:Class MONDO:0019850 biolink:NamedThing obsolete precocious puberty tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000088 True owl:Class MONDO:0000073 biolink:NamedThing obsolete nail disorder, nonsyndromic congenital tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019284 True owl:Class MONDO:0002673 biolink:NamedThing obsolete dermatofibrosarcoma protuberans tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011934 True owl:Class MONDO:0020314 biolink:NamedThing obsolete refractory anemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005272 True owl:Class MONDO:0018990 biolink:NamedThing obsolete pulmonary blastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005933 True owl:Class MONDO:0026754 biolink:NamedThing obsolete histidinuria-renal tubular defect syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009346 True owl:Class MONDO:0012189 biolink:NamedThing obsolete Amish infantile epilepsy syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018274 Obsoleted in the source ontologies. True https://github.com/monarch-initiative/mondo/issues/1372#issuecomment-728742082 owl:Class MONDO:0021051 biolink:NamedThing obsolete hemophagocytic syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015540 True owl:Class MONDO:0018313 biolink:NamedThing obsolete uveal melanoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006486 True owl:Class MONDO:0003566 biolink:NamedThing obsolete choroid plexus carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016718 True owl:Class MONDO:0016300 biolink:NamedThing obsolete transposition of the great arteries tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000153 True owl:Class MONDO:0000556 biolink:NamedThing obsolete autosomal recessive cerebellar ataxia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015244 True owl:Class MONDO:0015671 biolink:NamedThing obsolete diphtheria tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005504 True owl:Class MONDO:0004123 biolink:NamedThing obsolete laryngeal small cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006265 True owl:Class MONDO:0009494 biolink:NamedThing obsolete Ketoadipicaciduria tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0008774 Merged in OMIM. True https://github.com/monarch-initiative/mondo/issues/3796 owl:Class MONDO:0003703 biolink:NamedThing obsolete uterine corpus leiomyomatosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003704 True owl:Class MONDO:0001759 biolink:NamedThing obsolete patent foramen ovale tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020439 True owl:Class MONDO:0006503 biolink:NamedThing obsolete episodic ataxia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016227 True owl:Class MONDO:0015460 biolink:NamedThing obsolete adrenocortical carcinoma A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006639 True owl:Class MONDO:0007003 biolink:NamedThing obsolete twin-to-twin transfusion syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019805 True owl:Class MONDO:0005577 biolink:NamedThing obsolete narcolepsy without cataplexy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019371 True owl:Class MONDO:0003080 biolink:NamedThing obsolete indolent systemic mastocytosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020331 True owl:Class MONDO:0000056 biolink:NamedThing obsolete mandibuloacral dysplasia with lipodystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016584 True owl:Class MONDO:0000658 biolink:NamedThing obsolete mu chain disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015044 True owl:Class MONDO:0000215 biolink:NamedThing obsolete epilepsy, familial focal, with variable foci tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020310 True owl:Class MONDO:0004072 biolink:NamedThing obsolete protoplasmic astrocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016687 True owl:Class MONDO:0000420 biolink:NamedThing obsolete cerebral folate receptor alpha deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013110 True owl:Class MONDO:0000002 biolink:NamedThing obsolete 46,XX sex reversal tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009299 True owl:Class MONDO:0000312 biolink:NamedThing obsolete enlarged vestibular aqueduct tmpaxzxjjyw_mondo_relaxed.owl MONDO:0023069 True owl:Class MONDO:0002983 biolink:NamedThing obsolete neuromuscular junction disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020124 True owl:Class MONDO:0004434 biolink:NamedThing obsolete glomangiomyoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002299 True owl:Class MONDO:0016265 biolink:NamedThing obsolete endometrial stromal sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006745 True owl:Class MONDO:0003224 biolink:NamedThing obsolete spindle cell hemangioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016222 True owl:Class MONDO:0021188 biolink:NamedThing obsolete hemangiopericytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005094 True owl:Class MONDO:0000581 biolink:NamedThing obsolete lambda 5 deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013287 This was considered a duplicate. True https://github.com/monarch-initiative/mondo/issues/383 owl:Class MONDO:0003119 biolink:NamedThing obsolete histiocytoid hemangioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021169 True owl:Class MONDO:0003375 biolink:NamedThing obsolete uterus leiomyosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016262 True owl:Class MONDO:0000157 biolink:NamedThing obsolete episodic pain syndrome, familial tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0001669 biolink:NamedThing obsolete lung cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008903 True owl:Class MONDO:0017960 biolink:NamedThing obsolete CANDLE syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009726 True https://github.com/monarch-initiative/mondo/issues/1271 owl:Class MONDO:0002607 biolink:NamedThing obsolete lymphangioleiomyomatosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011705 True owl:Class MONDO:0015442 biolink:NamedThing obsolete hereditary breast and ovarian cancer syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003582 True owl:Class MONDO:0003855 biolink:NamedThing obsolete immature teratoma of ovary tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018369 True owl:Class MONDO:0004906 biolink:NamedThing obsolete hereditary fructose intolerance syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009249 True owl:Class GO:0140603 biolink:NamedThing obsolete ATP hydrolysis activity OBSOLETE. Catalysis of the reaction: ATP + H2O = ADP + H+ Pi. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. tmpaxzxjjyw_mondo_relaxed.owl GO:0016887 True owl:Class MONDO:0005795 biolink:NamedThing obsolete histoplasmosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018312 True owl:Class MONDO:0017608 biolink:NamedThing obsolete dystrophic epidermolysis bullosa tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0006543 True https://github.com/monarch-initiative/mondo/issues/3856 owl:Class MONDO:0022145 biolink:NamedThing obsolete Chiari malformation type II tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008816 True owl:Class MONDO:0003178 biolink:NamedThing obsolete laryngeal adenoid cystic carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006264 True owl:Class MONDO:0014812 biolink:NamedThing obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0018820 True https://github.com/monarch-initiative/mondo/issues/3089 owl:Class MONDO:0004536 biolink:NamedThing obsolete villoglandular variant cervical mucinous adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006141 True owl:Class MONDO:0002689 biolink:NamedThing obsolete pseudomyxoma peritonei tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017048 True owl:Class MONDO:0007786 biolink:NamedThing obsolete hypertrichosis lanuginosa congenita tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016381 True owl:Class MONDO:0022469 biolink:NamedThing obsolete aortic arches defect tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/141 MONDO:0015236 True owl:Class MONDO:0000289 biolink:NamedThing obsolete selective IgM deficiency disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018039 True owl:Class MONDO:0000024 biolink:NamedThing obsolete exostoses, multiple tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005508 True owl:Class MONDO:0002446 biolink:NamedThing obsolete hemoglobinopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019050 True owl:Class MONDO:0000071 biolink:NamedThing obsolete myopathy, myofibrillar tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018943 OMIMPS:601419 True owl:Class MONDO:0005171 biolink:NamedThing obsolete chronic myeloproliferative disorder Chronic form of myeloproliferative neoplasm. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020076 True owl:Class MONDO:0006691 biolink:NamedThing obsolete causalgia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020572 True owl:Class MONDO:0004945 biolink:NamedThing obsolete hypereosinophilic syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015691 True owl:Class MONDO:0003577 biolink:NamedThing obsolete cribriform carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006176 True owl:Class MONDO:0006870 biolink:NamedThing obsolete noma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017124 True owl:Class MONDO:0003239 biolink:NamedThing obsolete Camurati-Engelmann disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007542 True owl:Class MONDO:0005926 biolink:NamedThing obsolete poliomyelitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017373 True owl:Class MONDO:0000512 biolink:NamedThing obsolete ameloblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017795 True owl:Class MONDO:0017959 biolink:NamedThing obsolete JMP syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009726 True owl:Class MONDO:0019564 biolink:NamedThing obsolete systemic sclerosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005100 True owl:Class MONDO:0000394 biolink:NamedThing obsolete alcohol-related neurodevelopmental disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016011 True owl:Class MONDO:0002573 biolink:NamedThing obsolete pleomorphic rhabdomyosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017386 True owl:Class MONDO:0002498 biolink:NamedThing obsolete glioblastoma multiforme tmpaxzxjjyw_mondo_relaxed.owl obsolete glioblastoma multiforme (disease) obsolete glioblastoma multiforme (disease) MONDO:0018177 True owl:Class MONDO:0016246 biolink:NamedThing obsolete adenocarcinoma of ovary tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002752 True owl:Class MONDO:0000099 biolink:NamedThing obsolete trichoepithelioma, multiple familial tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0016415 biolink:NamedThing obsolete immunodeficiency-centromeric instability-facial anomalies syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000133 True owl:Class MONDO:0006697 biolink:NamedThing obsolete Chlamydophila infectious disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021697 True owl:Class MONDO:0000738 biolink:NamedThing obsolete syndromic X-linked intellectual disability tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020119 True owl:Class MONDO:0005270 biolink:NamedThing obsolete motor neuron disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020128 True owl:Class MONDO:0005931 biolink:NamedThing obsolete progressive multifocal leukoencephalopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016318 True owl:Class MONDO:0003871 biolink:NamedThing obsolete metanephric adenoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006301 True owl:Class MONDO:0005239 biolink:NamedThing obsolete dedifferentiated liposarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020563 True owl:Class MONDO:0004711 biolink:NamedThing obsolete amyloidosis tmpaxzxjjyw_mondo_relaxed.owl obsolete amyloidosis (disease) obsolete amyloidosis (disease) MONDO:0019065 True owl:Class MONDO:0003338 biolink:NamedThing obsolete von Economo disease tmpaxzxjjyw_mondo_relaxed.owl obsolete von Economo's disease MONDO:0019384 True owl:Class MONDO:0006495 biolink:NamedThing obsolete marginal zone B-cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017604 True owl:Class MONDO:0005547 biolink:NamedThing obsolete desmoplastic medulloblastoma tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0016711 True https://github.com/monarch-initiative/mondo/issues/3139 owl:Class MONDO:0005781 biolink:NamedThing obsolete hantavirus pulmonary syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017879 True owl:Class MONDO:0000235 biolink:NamedThing obsolete Rocky mountain spotted fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019359 True owl:Class IAO:0000427 biolink:NamedThing antisymmetric property Use boolean value xsd:true to indicate that the property is an antisymmetric property tmpaxzxjjyw_mondo_relaxed.owl antisymmetric property part_of antisymmetric property xsd:true Alan Ruttenberg owl:AnnotationProperty MONDO:0001189 biolink:NamedThing obsolete esophageal carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019086 True owl:Class MONDO:0001026 biolink:NamedThing obsolete bacterial infectious disease A infectious disease involving the Bacteria. tmpaxzxjjyw_mondo_relaxed.owl infections, Bacteria|Bacteria infection MONDO:0005113 True owl:Class MONDO:0017115 biolink:NamedThing obsolete bifid nose tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000110 True owl:Class MONDO:0000885 biolink:NamedThing obsolete cloacal exstrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009774 True owl:Class MONDO:0011947 biolink:NamedThing obsolete HNP1 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0024633 True https://github.com/monarch-initiative/mondo/issues/3600 owl:Class MONDO:0024486 biolink:NamedThing obsolete familial chronic mucocutaneous candidiasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015279 True owl:Class MONDO:0000258 biolink:NamedThing obsolete intestinal botulism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015805 True owl:Class MONDO:0003207 biolink:NamedThing obsolete eccrine adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024240 True owl:Class MONDO:0000370 biolink:NamedThing obsolete Askin's tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006094 True owl:Class MONDO:0010272 biolink:NamedThing obsolete syndromic X-linked intellectual disability type 10 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010327 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1690 owl:Class MONDO:0003116 biolink:NamedThing obsolete calciphylaxis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017215 True owl:Class MONDO:0018986 biolink:NamedThing obsolete leiomyosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005058 True owl:Class MONDO:0024385 biolink:NamedThing obsolete arenavirus infectious disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005650 True owl:Class MONDO:0003623 biolink:NamedThing obsolete pancreatic acinar cell adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006346 True owl:Class MONDO:0001675 biolink:NamedThing obsolete porphyria tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019142 True owl:Class MONDO:0004912 biolink:NamedThing obsolete muscular dystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020121 True owl:Class MONDO:0000523 biolink:NamedThing obsolete conjunctival nevus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006172 True owl:Class MONDO:0009325 biolink:NamedThing obsolete deafness-enamel hypoplasia-nail defects syndrome tmpaxzxjjyw_mondo_relaxed.owl duplicate MONDO:0100229 True https://github.com/monarch-initiative/mondo/issues/2857 owl:Class MONDO:0001131 biolink:NamedThing obsolete duodenum adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006186 True owl:Class MONDO:0000505 biolink:NamedThing obsolete small cell neuroendocrine carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000402 True owl:Class MONDO:0000089 biolink:NamedThing obsolete age-related hearing impairment tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005562 True owl:Class MONDO:0033939 biolink:NamedThing obsolete hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0060564 duplicate True https://github.com/monarch-initiative/mondo/issues/2461 owl:Class MONDO:0016389 biolink:NamedThing obsolete lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005062 True owl:Class MONDO:0003013 biolink:NamedThing obsolete pseudohypoaldosteronism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018638 True owl:Class GO:0044427 biolink:NamedThing obsolete chromosomal part OBSOLETE. Any constituent part of a chromosome, a structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. tmpaxzxjjyw_mondo_relaxed.owl chromosome part|chromosomal component|chromosome component GO:0005694 True owl:Class MONDO:0035363 biolink:NamedThing obsolete IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0060759 True https://github.com/monarch-initiative/mondo/issues/3541 owl:Class MONDO:0010195 biolink:NamedThing obsolete Weissenbacher-Zweymuller syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008490 Obsoleted in OMIM and Orphanet. True https://github.com/monarch-initiative/mondo/issues/1689 owl:Class MONDO:0018526 biolink:NamedThing obsolete serous cystadenocarcinoma of pancreas tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003630 True owl:Class MONDO:0023217 biolink:NamedThing obsolete gastro-enteropancreatic neuroendocrine tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015078 True owl:Class MONDO:0003018 biolink:NamedThing obsolete myotonic disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016107 True owl:Class MONDO:0005427 biolink:NamedThing obsolete vasuclar dementia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004648 True owl:Class MONDO:0001483 biolink:NamedThing obsolete Crimean-Congo hemorrhagic fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020501 True owl:Class MONDO:0000391 biolink:NamedThing obsolete Bethlem myopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008029 True owl:Class OIO:hasOBOFormatVersion biolink:NamedThing has_obo_format_version tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty GO:0035949 biolink:NamedThing obsolete positive regulation of gluconeogenesis by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of glucose biosynthesis by down regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by negative regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by inhibition of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by down-regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by down regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by downregulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by down-regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by negative regulation of transcription from Pol II promoter|positive regulation of gluconeogenesis by negative regulation of transcription from Pol II promoter|positive regulation of gluconeogenesis by down-regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthetic process by negative regulation of transcription from RNA polymerase II promoter|positive regulation of gluconeogenesis by down regulation of transcription from RNA polymerase II promoter|positive regulation of glucose biosynthesis by negative regulation of transcription from Pol II promoter|positive regulation of glucose biosynthetic process by downregulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0026782 biolink:NamedThing obsolete chondrodysplasia punctata 2, X-linked dominant tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0020603 True https://github.com/monarch-initiative/mondo/issues/3906 owl:Class MONDO:0003613 biolink:NamedThing obsolete diffuse peritoneal leiomyomatosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006183 True owl:Class MONDO:0005245 biolink:NamedThing obsolete testicular seminoma tmpaxzxjjyw_mondo_relaxed.owl obsolete testicular seminoma (disease) obsolete testicular seminoma (disease) MONDO:0003669 True owl:Class MONDO:0033981 biolink:NamedThing obsolete krt1-related diffuse nonepidermolytic keratoderma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010962 True owl:Class MONDO:0002690 biolink:NamedThing obsolete meningioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016642 True owl:Class MONDO:0016849 biolink:NamedThing obsolete Nakajo-Nishimura syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009726 True https://github.com/monarch-initiative/mondo/issues/1271 owl:Class MONDO:0015155 biolink:NamedThing obsolete spotted fever rickettsiosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001195 True owl:Class MONDO:0015989 biolink:NamedThing obsolete congenital valvular dysplasia tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0010753 True https://github.com/monarch-initiative/mondo/issues/3085 owl:Class MONDO:0016585 biolink:NamedThing obsolete mansonelliasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005838 True owl:Class MONDO:0000850 biolink:NamedThing obsolete hypochondroplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007793 True owl:Class MONDO:0005653 biolink:NamedThing obsolete asbestosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016466 True owl:Class MONDO:0000542 biolink:NamedThing obsolete duodenum adenoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006187 True owl:Class MONDO:0001865 biolink:NamedThing obsolete autoimmune polyendocrinopathy syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017278 True owl:Class MONDO:0002499 biolink:NamedThing obsolete astrocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019781 True owl:Class MONDO:0006376 biolink:NamedThing obsolete plantar fibromatosis A superficial fibromatosis arising from soft tissue of the plantar regions. It is characterized by the presence of spindle-shaped fibroblasts, hypercellularity, and an infiltrative growth pattern. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004684 True owl:Class MONDO:0016640 biolink:NamedThing obsolete fibrous dysplasia of bone tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000845 Appears to be same concept as MONDO:0000845, fibrous dysplasia. True https://github.com/monarch-initiative/mondo/issues/2462 owl:Class MONDO:0003489 biolink:NamedThing obsolete middle ear squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006303 True owl:Class MONDO:0019247 biolink:NamedThing obsolete combined hyperlipidemia (including acquired and inherited) tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001807 True owl:Class MONDO:0016714 biolink:NamedThing obsolete ganglioneuroblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005035 True owl:Class MONDO:0010593 biolink:NamedThing obsolete Frontometaphyseal dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015942 True owl:Class MONDO:0001826 biolink:NamedThing obsolete hypobetalipoproteinemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017774 True owl:Class MONDO:0011643 biolink:NamedThing obsolete permanent neonatal diabetes mellitus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100164 OMIM created a new phenotypic series (PS), so this class was obsoleted and replaced by a new class for 'permanent neonatal diabetes mellitus' (MONDO:0100164) that is equivalent to the OMIMPS. True https://github.com/monarch-initiative/mondo/issues/1803 owl:Class MONDO:0004606 biolink:NamedThing obsolete pyoderma gangrenosum tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018824 True owl:Class MONDO:0100088 biolink:NamedThing obsolete late-onset familial alzheimer disease tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0007089 True https://github.com/monarch-initiative/mondo/issues/3947 owl:Class MONDO:0016074 biolink:NamedThing obsolete fibrosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005164 True owl:Class MONDO:0011394 biolink:NamedThing obsolete keratosis pilaris atrophicans tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018855 True owl:Class MONDO:0000069 biolink:NamedThing obsolete multiple endocrine neoplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017169 True owl:Class MONDO:0000880 biolink:NamedThing obsolete lupus nephritis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005556 True owl:Class MONDO:0001348 biolink:NamedThing obsolete Lyme disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019632 True owl:Class MONDO:0006175 biolink:NamedThing obsolete craniopharyngioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018907 True owl:Class MONDO:0044225 biolink:NamedThing obsolete creatine kinase, brain type, ectopic expression of tmpaxzxjjyw_mondo_relaxed.owl CKBE|creatine KINASE, brain type, ectopic expression OF HGNC:1992 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0016886 biolink:NamedThing obsolete partial deletion of the short arm of chromosome 4 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0022762 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class MONDO:0000187 biolink:NamedThing obsolete ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010004 True owl:Class GO:0033267 biolink:NamedThing obsolete axon part OBSOLETE. A part of an axon, a cell projection of a neuron. tmpaxzxjjyw_mondo_relaxed.owl GO:0030424 True owl:Class MONDO:0021570 biolink:NamedThing obsolete Hauptmann-Thannhauser muscular dystrophy tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0021569 True https://github.com/monarch-initiative/mondo/issues/55 owl:Class MONDO:0015750 biolink:NamedThing obsolete amelogenesis imperfecta-gingival hyperplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0008771 Obsoleted in Orphanet and OMIM. True https://github.com/monarch-initiative/mondo/issues/3537 owl:Class MONDO:0016694 biolink:NamedThing obsolete Pituicytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006372 True owl:Class MONDO:0002524 biolink:NamedThing obsolete hyperlipoproteinemia type III tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018473 True owl:Class MONDO:0002504 biolink:NamedThing obsolete grade III astrocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016684 True owl:Class MONDO:0006240 biolink:NamedThing obsolete hemangiopericytic neoplasm tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002789 True owl:Class MONDO:0019961 biolink:NamedThing obsolete somatostatinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006976 True owl:Class MONDO:0002421 biolink:NamedThing obsolete chorioangioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006375 True owl:Class MONDO:0003815 biolink:NamedThing obsolete Cronkhite-Canada syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008283 True owl:Class MONDO:0003016 biolink:NamedThing obsolete sarcomatoid mesothelioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006407 True owl:Class GO:0051195 biolink:NamedThing obsolete negative regulation of cofactor metabolic process OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a cofactor. tmpaxzxjjyw_mondo_relaxed.owl down-regulation of cofactor metabolic process|downregulation of cofactor metabolic process|inhibition of cofactor metabolic process|negative regulation of cofactor metabolism|down regulation of cofactor metabolic process True owl:Class MONDO:0006440 biolink:NamedThing obsolete systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020332 This is a place-holder for Orphanet term ORDO_98849 which is not currently part of the rare genetic disorders imported from ORDO2 (as of January 2016). True https://github.com/monarch-initiative/mondo/issues/1270 owl:Class MONDO:0020611 biolink:NamedThing obsolete blood group--kell system tmpaxzxjjyw_mondo_relaxed.owl Blood Group--Kell-Cellano System|Ko|KEL|BLOOD GROUP--KELL SYSTEM|K(0)|Kell-Null OMIM:110900 True owl:Class MONDO:0009078 biolink:NamedThing obsolete Jervell and Lange-Nielsen syndrome tmpaxzxjjyw_mondo_relaxed.owl obsolete Jervell and Lange-Nielsen syndrome terms merged MONDO:0002441 True https://github.com/monarch-initiative/mondo/issues/3073 owl:Class MONDO:0000117 biolink:NamedThing obsolete diarrhea, congenital tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000824 True owl:Class OIO:created_by biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0005337 biolink:NamedThing obsolete neuropathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005244 True owl:Class MONDO:0008956 biolink:NamedThing obsolete congenital neuronal ceroid lipofuscinosis tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0009744 Terms were merged in OMIM. True https://github.com/monarch-initiative/mondo/issues/2665 owl:Class MONDO:0007926 biolink:NamedThing obsolete Waldenstrom macroglobulinemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100280 Split into generic and type 1 subtype from OMIM (OMIM:153600). True https://github.com/monarch-initiative/mondo/issues/2562 owl:Class MONDO:0003797 biolink:NamedThing obsolete inflammatory MFH tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006480 True owl:Class GO:0044456 biolink:NamedThing obsolete synapse part OBSOLETE. Any constituent part of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. tmpaxzxjjyw_mondo_relaxed.owl synaptic component GO:0045202 True owl:Class MONDO:0003779 biolink:NamedThing obsolete gliomatosis cerebri tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016683 True owl:Class dc:source biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0024267 biolink:NamedThing obsolete epidemic encephalitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019384 True owl:Class MONDO:0006048 biolink:NamedThing obsolete pancreatic neuroendocrine tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019954 True owl:Class MONDO:0003213 biolink:NamedThing obsolete ampulla of vater carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006080 True owl:Class MONDO:0000865 biolink:NamedThing obsolete congenital fiber-type disproportion tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0009711 True https://github.com/monarch-initiative/mondo/issues/2534 owl:Class MONDO:0000418 biolink:NamedThing obsolete Ohtahara syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016021 True owl:Class MONDO:0006623 biolink:NamedThing obsolete autoimmune pancreatitis type 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017227 True owl:Class MONDO:0000406 biolink:NamedThing obsolete Brown-Vialetto-van Laere syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008891 True https://github.com/monarch-initiative/mondo/issues/127 owl:Class MONDO:0018238 biolink:NamedThing obsolete rare bone disease related to a common gene or pathway defect tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005381 This is a grouping term that is probably not used clinically. True https://github.com/monarch-initiative/mondo/issues/1726 owl:Class MONDO:0004791 biolink:NamedThing obsolete lipid storage disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019245 True owl:Class MONDO:0003807 biolink:NamedThing obsolete follicular thyroid adenoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005032 True owl:Class MONDO:0012372 biolink:NamedThing obsolete hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007617 True owl:Class MONDO:0007658 biolink:NamedThing obsolete spitz nevus A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044793 Obsoleted as was conflated with congenital melanocytic nevus True owl:Class MONDO:0005760 biolink:NamedThing obsolete fibroepithelial neoplasm tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021045 True owl:Class MONDO:0003416 biolink:NamedThing obsolete hemoglobin E disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016243 True owl:Class MONDO:0018049 biolink:NamedThing obsolete Kaposi sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005055 True owl:Class MONDO:0000324 biolink:NamedThing obsolete familial partial lipodystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020088 True owl:Class MONDO:0019616 biolink:NamedThing obsolete germinoma of the central nervous system tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002999 True owl:Class MONDO:0005702 biolink:NamedThing obsolete chromoblastomycosis A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015908 True owl:Class GO:0044420 biolink:NamedThing obsolete extracellular matrix component OBSOLETE. Any constituent part of the extracellular matrix, the structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as often seen in plants). tmpaxzxjjyw_mondo_relaxed.owl extracellular matrix part GO:0031012 True owl:Class MONDO:0006338 biolink:NamedThing obsolete ovarian germ cell tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011366 True owl:Class MONDO:0006431 biolink:NamedThing obsolete splenic marginal zone lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019462 True owl:Class MONDO:0016992 biolink:NamedThing obsolete peeling skin syndrome type B tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0024548 True https://github.com/monarch-initiative/mondo/issues/2705 owl:Class MONDO:0007889 biolink:NamedThing obsolete lentigines tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0021582 True https://github.com/monarch-initiative/mondo/issues/3692 owl:Class MONDO:0003580 biolink:NamedThing obsolete embryonal testis carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006446 True owl:Class MONDO:0017253 biolink:NamedThing obsolete anterior uveitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006651 True owl:Class MONDO:0000475 biolink:NamedThing obsolete pyrimidine metabolic disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019238 True owl:Class MONDO:0002059 biolink:NamedThing obsolete breast duct papilloma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021097 True owl:Class MONDO:0001359 biolink:NamedThing obsolete Kohler disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016086 True owl:Class MONDO:0007484 biolink:NamedThing obsolete dyschromatosis universalis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000736 True owl:Class MONDO:0000484 biolink:NamedThing obsolete oromandibular dystonia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019771 True owl:Class MONDO:0002502 biolink:NamedThing obsolete giant cell glioblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016682 True owl:Class MONDO:0007455 biolink:NamedThing obsolete diabetes mellitus, noninsulin-dependent tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005148 Duplicate terms. True https://github.com/monarch-initiative/mondo/issues/2377 owl:Class MONDO:0010202 biolink:NamedThing obsolete Wiskott-Aldrich syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010518 True owl:Class MONDO:0006379 biolink:NamedThing obsolete pleural mesothelioma tmpaxzxjjyw_mondo_relaxed.owl obsolete pleural mesothelioma (disease) obsolete pleural mesothelioma (disease) MONDO:0003308 True owl:Class MONDO:0021910 biolink:NamedThing obsolete aplasia cutis myopia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010988 True owl:Class MONDO:0006776 biolink:NamedThing obsolete hairy cell leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018935 True owl:Class MONDO:0021971 biolink:NamedThing obsolete Baraitser Rodeck garner syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009041 True owl:Class MONDO:0006443 biolink:NamedThing obsolete tenosynovial giant cell tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002522 True owl:Class MONDO:0005877 biolink:NamedThing obsolete nocardiosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017776 True owl:Class MONDO:0005958 biolink:NamedThing obsolete sex cord-stromal tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006055 True owl:Class MONDO:0003436 biolink:NamedThing obsolete lung oat cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008433 Duplicate True https://github.com/monarch-initiative/mondo/issues/1579 owl:Class MONDO:0001968 biolink:NamedThing obsolete 46 XY gonadal dysgenesis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010765 True owl:Class CL:0000243 biolink:NamedThing obsolete glial cell (sensu Vertebrata) A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear. tmpaxzxjjyw_mondo_relaxed.owl This is a grouping class that is no longer needed or wanted. True cell https://github.com/obophenotype/cell-ontology/issues/715 owl:Class MONDO:0001289 biolink:NamedThing obsolete endometriosis of ovary tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006337 True owl:Class MONDO:0001111 biolink:NamedThing obsolete thrombotic thrombocytopenic purpura tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018896 True owl:Class MONDO:0000712 biolink:NamedThing obsolete FTDALS tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017161 duplicate True https://github.com/monarch-initiative/mondo/issues/1902 owl:Class MONDO:0022460 biolink:NamedThing obsolete anophthalmia cleft lip palate hypothalamic disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010930 True owl:Class MONDO:0000753 biolink:NamedThing obsolete omphalocele tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019015 True owl:Class MONDO:0000034 biolink:NamedThing obsolete glomerulopathy with fibronectin deposits tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0022546 biolink:NamedThing obsolete basal cell nevus anodontia abnormal bone mineralization tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0021845 True https://github.com/monarch-initiative/mondo/issues/3700 owl:Class MONDO:0002823 biolink:NamedThing obsolete thyroid gland medullary carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015277 True owl:Class OIO:hasOBONamespace biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty GO:0051705 biolink:NamedThing obsolete multi-organism behavior OBSOLETE. Any process in which an organism has a behavioral effect on another organism of the same or different species. tmpaxzxjjyw_mondo_relaxed.owl behavioural interaction between organisms|behavioural interaction with other organism|behavioral interaction between organisms|behavioral interaction with other organism|behavioral signaling|behavioral signalling True owl:Class MONDO:0002215 biolink:NamedThing obsolete atypical teratoid rhabdoid tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020560 True owl:Class MONDO:0000364 biolink:NamedThing obsolete severe congenital neutropenia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018542 True owl:Class MONDO:0007010 biolink:NamedThing obsolete uveitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020283 True owl:Class MONDO:0013861 biolink:NamedThing obsolete amyotrophic lateral sclerosis type 17 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010936 merged in OMIM True https://github.com/monarch-initiative/mondo/issues/2577 owl:Class GO:0044424 biolink:NamedThing obsolete intracellular part OBSOLETE. Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. tmpaxzxjjyw_mondo_relaxed.owl GO:0005622 True owl:Class MONDO:0100136 biolink:NamedThing obsolete Fanconia anemia complementation group M OBSOLETE Any Fanconi anemia in which the cause of the disease is a mutation in the FANCM gene. tmpaxzxjjyw_mondo_relaxed.owl FANCM Fanconi anemia|Fanconi anemia caused by mutation in FANCM http://purl.obolibrary.org/obo/MONDO_0019391 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/1636 owl:Class MONDO:0018348 biolink:NamedThing obsolete polyglucosan body myopathy type 1 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0014389 True https://github.com/monarch-initiative/mondo/issues/2668 owl:Class MONDO:0007954 biolink:NamedThing obsolete May-Hegglin anomaly tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0015912 True https://github.com/monarch-initiative/mondo/issues/1376 owl:Class MONDO:0019302 biolink:NamedThing obsolete mucopolysaccharidosis with skin involvement tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0010674 Grouping class with a single child. It is a synonym for the child term. True https://github.com/monarch-initiative/mondo/issues/3787|https://github.com/monarch-initiative/mondo/issues/3785 owl:Class MONDO:0005226 biolink:NamedThing obsolete acute basophilic leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019458 True owl:Class MONDO:0006719 biolink:NamedThing obsolete cystic lymphangioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009761 True https://github.com/monarch-initiative/mondo/issues/395 owl:Class MONDO:0000220 biolink:NamedThing obsolete anterior segment dysgenesis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019503 True owl:Class MONDO:0002825 biolink:NamedThing obsolete Meige syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019772 True owl:Class MONDO:0000055 biolink:NamedThing obsolete major affective disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004985 True owl:Class MONDO:0000438 biolink:NamedThing obsolete ataxia with oculomotor apraxia type 2 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018996 True owl:Class MONDO:0015598 biolink:NamedThing obsolete acrodermatitis continua suppurativa of Hallopeau tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0013626 True https://github.com/monarch-initiative/mondo/issues/2829 owl:Class MONDO:0025517 biolink:NamedThing obsolete shrimp allergy A allergic disease involving a shrimp food product. tmpaxzxjjyw_mondo_relaxed.owl allergy of shrimp food product|shrimp food product allergic disease MONDO:outOfScope DOID:0040001 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class GO:0051194 biolink:NamedThing obsolete positive regulation of cofactor metabolic process OBSOLETE. Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a cofactor. tmpaxzxjjyw_mondo_relaxed.owl stimulation of cofactor metabolic process|activation of cofactor metabolic process|positive regulation of cofactor metabolism|up-regulation of cofactor metabolic process|upregulation of cofactor metabolic process|up regulation of cofactor metabolic process True owl:Class MONDO:0003457 biolink:NamedThing obsolete ovarian serous adenofibroma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006340 True owl:Class MONDO:0005431 biolink:NamedThing obsolete toxic epidermal necrolysis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019810 True owl:Class MONDO:0000085 biolink:NamedThing obsolete pituitary hormone deficiency, combined tmpaxzxjjyw_mondo_relaxed.owl OMIMPS:613038 True owl:Class MONDO:0019135 biolink:NamedThing obsolete paracoccidioidomycosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005894 True owl:Class MONDO:0008033 biolink:NamedThing obsolete autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021569 True owl:Class MONDO:0007714 biolink:NamedThing obsolete migraine, familial hemiplegic, 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000700|MONDO:0020756 True owl:Class MONDO:0003605 biolink:NamedThing obsolete adrenal neuroblastoma A neuroblastoma arising from the adrenal gland. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006076 True owl:Class MONDO:0021153 biolink:NamedThing obsolete genetic and acquired tmpaxzxjjyw_mondo_relaxed.owl somatic genetic True owl:Class MONDO:0011495 biolink:NamedThing obsolete Langerhans-cell histiocytosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018310 True owl:Class MONDO:0000287 biolink:NamedThing obsolete Lambert-Eaton myasthenic syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018556 True owl:Class MONDO:0000247 biolink:NamedThing obsolete hemophagocytic lymphohistiocytosis A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015540 True owl:Class MONDO:0006439 biolink:NamedThing obsolete syringocystadenoma papilliferum tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019392 True owl:Class MONDO:0017125 biolink:NamedThing obsolete oculofaciocardiodental syndrome tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0010261 True https://github.com/monarch-initiative/mondo/issues/2691 owl:Class MONDO:0000357 biolink:NamedThing obsolete West syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018097 True owl:Class MONDO:0002723 biolink:NamedThing obsolete cutaneous mastocytosis tmpaxzxjjyw_mondo_relaxed.owl obsolete cutaneous mastocytosis (disease) obsolete cutaneous mastocytosis (disease) MONDO:0019023 True owl:Class MONDO:0003188 biolink:NamedThing obsolete juvenile myoclonic epilepsy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009696 True owl:Class MONDO:0000246 biolink:NamedThing obsolete la Crosse encephalitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019378 True owl:Class MONDO:0010624 biolink:NamedThing obsolete IFAP/BRESHECK syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100213 Split this term and added OMIM phenotypic series as a parent. True owl:Class MONDO:0018970 biolink:NamedThing obsolete pemphigoid gestationis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006558 True owl:Class MONDO:0007262 biolink:NamedThing obsolete carcinoid syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006689 True owl:Class MONDO:0015098 biolink:NamedThing obsolete situs inversus totalis tmpaxzxjjyw_mondo_relaxed.owl obsolete situs inversus totalis (disease) obsolete situs inversus totalis (disease) MONDO:0010029 True owl:Class GO:0072369 biolink:NamedThing obsolete regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0016896 biolink:NamedThing obsolete partial deletion of the short arm of chromosome 18 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0007800 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class MONDO:0002348 biolink:NamedThing obsolete chondrodysplasia punctata tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019701 True owl:Class MONDO:0006985 biolink:NamedThing obsolete subependymoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007667 True owl:Class MONDO:0005273 biolink:NamedThing obsolete refractory anemia with excess blasts tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019454 True owl:Class GO:0044459 biolink:NamedThing obsolete plasma membrane part OBSOLETE. Any constituent part of the plasma membrane, the membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. tmpaxzxjjyw_mondo_relaxed.owl GO:0005886 True owl:Class GO:0100023 biolink:NamedThing obsolete regulation of meiotic nuclear division by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates meiotic nuclear division. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0005458 biolink:NamedThing obsolete q fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019186 True owl:Class MONDO:0006575 biolink:NamedThing obsolete loiasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016566 True owl:Class MONDO:0000464 biolink:NamedThing obsolete Stargardt disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019353 True owl:Class MONDO:0005415 biolink:NamedThing obsolete acute lung injury tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015796 True owl:Class MONDO:0001696 biolink:NamedThing obsolete Ehlers-Danlos syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020066 True owl:Class MONDO:0006494 biolink:NamedThing obsolete thyroid disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003240 True owl:Class MONDO:0013346 biolink:NamedThing obsolete brain calcification, Rajab type tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100215 This is a prototype term for an OMIMPS, obsoleted this term and recreated the class that is a child of th OMIMPS. True owl:Class MONDO:0006627 biolink:NamedThing obsolete microscopic polyangiitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019124 True owl:Class MONDO:0023031 biolink:NamedThing obsolete dysostosis acral with facial and genital abnormalities tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0024455 True https://github.com/monarch-initiative/mondo/issues/3711 owl:Class MONDO:0006772 biolink:NamedThing obsolete glycogen storage disease VIII tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0010598 True https://github.com/monarch-initiative/mondo/issues/2648 owl:Class MONDO:0000029 biolink:NamedThing obsolete corticosterone methyloxidase deficiency tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0021150 biolink:NamedThing obsolete genetic characteristic tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021152 True owl:Class MONDO:0000449 biolink:NamedThing obsolete Opitz-GBBB syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017138 True owl:Class MONDO:0015142 biolink:NamedThing obsolete ataxia syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000437 True owl:Class MONDO:0000416 biolink:NamedThing obsolete variable age at onset electroclinical syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100036 True owl:Class MONDO:0006252 biolink:NamedThing obsolete infiltrating bladder lymphoepithelioma-like carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004299 True owl:Class MONDO:0002248 biolink:NamedThing obsolete myeloproliferative neoplasm tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020076 True owl:Class MONDO:0000281 biolink:NamedThing obsolete Chapare hemorrhagic fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017878 True owl:Class MONDO:0004399 biolink:NamedThing obsolete epithelial malignant thymoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006458 True owl:Class MONDO:0019379 biolink:NamedThing obsolete st. Louis encephalitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005969 True owl:Class GO:0044422 biolink:NamedThing obsolete organelle part OBSOLETE. Any constituent part of an organelle, an organized structure of distinctive morphology and function. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, but excludes the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl GO:0043226 True owl:Class MONDO:0001254 biolink:NamedThing obsolete peripheral scars of retina tmpaxzxjjyw_mondo_relaxed.owl DOID:11283|ICD9:363.34 True owl:Class MONDO:0000538 biolink:NamedThing obsolete spindle epithelial tumor with thymus-like differentiation tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006466 True owl:Class MONDO:0005732 biolink:NamedThing obsolete diphyllobothriasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015260 True owl:Class MONDO:0015251 biolink:NamedThing obsolete balantidiasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005662 True owl:Class MONDO:0003114 biolink:NamedThing obsolete bone giant cell sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006287 True owl:Class MONDO:0019279 biolink:NamedThing obsolete alopecia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004907 True owl:Class MONDO:0018886 biolink:NamedThing obsolete listeriosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005828 True owl:Class IAO:0000002 biolink:NamedThing example to be eventually removed tmpaxzxjjyw_mondo_relaxed.owl example to be eventually removed owl:NamedIndividual MONDO:0004999 biolink:NamedThing obsolete chondrosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008977 True owl:Class MONDO:0000864 biolink:NamedThing obsolete congenital myopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019952 True owl:Class MONDO:0018934 biolink:NamedThing obsolete mucopolysaccharidosis type 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001586 True owl:Class MONDO:0001102 biolink:NamedThing obsolete chronic endophthalmitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017203 True owl:Class owl:Nothing biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:Class MONDO:0003247 biolink:NamedThing obsolete pineal parenchymal tumor of intermediate differentiation tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006369 True owl:Class IAO:0000602 biolink:NamedThing has associated axiom(fol) tmpaxzxjjyw_mondo_relaxed.owl Person:Alan Ruttenberg has associated axiom(fol) An axiom expressed in first order logic using CLIF syntax Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0009304 biolink:NamedThing obsolete Gorlin-Chaudhry-Moss syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0012853 OMIM merged these terms True https://github.com/monarch-initiative/mondo/issues/1685 owl:Class MONDO:0002097 biolink:NamedThing obsolete ocular melanoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006325 True owl:Class MONDO:0001961 biolink:NamedThing obsolete glossopharyngeal neuralgia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016372 True owl:Class MONDO:0002575 biolink:NamedThing obsolete prostate rhabdomyosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006389 True owl:Class GO:0100020 biolink:NamedThing obsolete regulation of transport by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates transport. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0015266 biolink:NamedThing obsolete brucellosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005683 True owl:Class MONDO:0018297 biolink:NamedThing obsolete hypotonia-speech impairment-severe cognitive delay syndrome tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0014176 True https://github.com/monarch-initiative/mondo/issues/3417 owl:Class MONDO:0002699 biolink:NamedThing obsolete pancreatic ductal carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005184 True owl:Class MONDO:0019442 biolink:NamedThing obsolete congenital toxoplasmosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005715 True owl:Class MONDO:0005457 biolink:NamedThing obsolete acute stress reaction tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003763 True owl:Class GO:0000988 biolink:NamedThing obsolete transcription factor activity, protein binding OBSOLETE. Binding to a protein or protein complex, to modulate transcription. A protein binding transcription factor may or may not also interact with the template nucleic acid (either DNA or RNA) as well. tmpaxzxjjyw_mondo_relaxed.owl protein binding transcription factor activity|transcription factor activity GO:0005515|GO:0140110 True owl:Class MONDO:0005228 biolink:NamedThing obsolete anaplastic large cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020325 True owl:Class MONDO:0003006 biolink:NamedThing obsolete Bartter disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015231 True owl:Class MONDO:0007196 biolink:NamedThing obsolete bladder cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001187 OMIM references Orphanet:157980 but this does not exist True owl:Class MONDO:0002609 biolink:NamedThing obsolete gangliosidosis GM1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018149 True owl:Class GO:2001275 biolink:NamedThing obsolete positive regulation of glucose import in response to insulin stimulus OBSOLETE. Any process that activates or increases the frequency, rate or extent of glucose import in response to insulin stimulus. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of cellular glucose import in response to insulin stimulus True owl:Class MONDO:0006568 biolink:NamedThing obsolete Kimura disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018830 True owl:Class MONDO:0006318 biolink:NamedThing obsolete nevus of Ito tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016985 True owl:Class MONDO:0020515 biolink:NamedThing obsolete thymic carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006451 True owl:Class GO:0044449 biolink:NamedThing obsolete contractile fiber part OBSOLETE. Any constituent part of a contractile fiber, a fiber composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. tmpaxzxjjyw_mondo_relaxed.owl contractile fibre component|muscle fibre component|muscle fiber component GO:0043292 True owl:Class MONDO:0000184 biolink:NamedThing obsolete congenital vitamin K-dependent coagulation factors combined deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015722 True https://github.com/monarch-initiative/mondo/issues/400 owl:Class MONDO:0014988 biolink:NamedThing obsolete 3-methylglutaconic aciduria, type VIII tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044723 Duplicate True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0004590 biolink:NamedThing obsolete fundus dystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019118 True owl:Class MONDO:0002179 biolink:NamedThing obsolete placental choriocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006374 True owl:Class MONDO:0008122 biolink:NamedThing obsolete olivopontocerebellar atrophy 5 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0011781 True https://github.com/monarch-initiative/mondo/issues/3805 owl:Class MONDO:0005409 biolink:NamedThing obsolete variant Creutzfeld Jacob disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007012 True owl:Class MONDO:0000296 biolink:NamedThing obsolete angiostrongyliasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019143 True owl:Class MONDO:0000825 biolink:NamedThing obsolete hypomyelinating leukodystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019046 True owl:Class MONDO:0019081 biolink:NamedThing obsolete alopecia universalis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008757 True owl:Class MONDO:0000900 biolink:NamedThing obsolete PTEN hamartoma tumor syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017623 True owl:Class MONDO:0022939 biolink:NamedThing obsolete deafness hyperuricemia neurologic ataxia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0043176 Obsolete in GARD. True https://github.com/monarch-initiative/mondo/issues/1596 owl:Class GO:0044431 biolink:NamedThing obsolete Golgi apparatus part OBSOLETE. Any constituent part of the Golgi apparatus, a compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. tmpaxzxjjyw_mondo_relaxed.owl Golgi component|Golgi subcomponent GO:0005794 True owl:Class MONDO:0015258 biolink:NamedThing obsolete botulism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005498 True owl:Class MONDO:0006902 biolink:NamedThing obsolete periventricular leukomalacia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015742 True owl:Class MONDO:0003094 biolink:NamedThing obsolete mucoepidermoid thyroid carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006463 True owl:Class MONDO:0002020 biolink:NamedThing obsolete Blount disease tmpaxzxjjyw_mondo_relaxed.owl obsolete Blount's disease MONDO:0017194 True owl:Class MONDO:0006943 biolink:NamedThing obsolete relapsing polychondritis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019125 True owl:Class MONDO:0017358 biolink:NamedThing obsolete organic aciduria tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000688 True owl:Class GO:0004871 biolink:NamedThing obsolete signal transducer activity OBSOLETE. Conveys a signal across a cell to trigger a change in cell function or state. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. tmpaxzxjjyw_mondo_relaxed.owl hematopoietin/interferon-class (D200-domain) cytokine receptor signal transducer activity|quorum sensing signal generator activity|quorum sensing response regulator activity True owl:Class MONDO:0003217 biolink:NamedThing obsolete ureter carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006481 True owl:Class MONDO:0002686 biolink:NamedThing obsolete mast-cell sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019024 True owl:Class MONDO:0000852 biolink:NamedThing obsolete hypochondrogenesis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019669 True owl:Class MONDO:0005735 biolink:NamedThing obsolete dracunculiasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016472 True owl:Class GO:0051188 biolink:NamedThing obsolete cofactor biosynthetic process OBSOLETE. The chemical reactions and pathways resulting in the formation of a cofactor, a substance that is required for the activity of an enzyme or other protein. tmpaxzxjjyw_mondo_relaxed.owl cofactor biosynthesis|cofactor formation|cofactor anabolism|cofactor synthesis True owl:Class MONDO:0008646 biolink:NamedThing obsolete long QT syndrome 1 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0100316 True https://github.com/monarch-initiative/mondo/issues/2330 owl:Class MONDO:0000848 biolink:NamedThing obsolete axial osteomalacia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007181 True owl:Class urn:swrl#in biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0017982 biolink:NamedThing obsolete humeroradial synostosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009356 True owl:Class MONDO:0003914 biolink:NamedThing obsolete inborn purine-pyrimidine metabolic disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019254 True owl:Class MONDO:0006084 biolink:NamedThing obsolete angioleiomyoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006646 True owl:Class MONDO:0007613 biolink:NamedThing obsolete fibromuscular dysplasia of arteries tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006761 True owl:Class MONDO:0014315 biolink:NamedThing obsolete Mitchell-Riley syndrome tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0017400 True https://github.com/monarch-initiative/mondo/issues/3099 owl:Class MONDO:0000571 biolink:NamedThing obsolete CD3zeta deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0012426 True owl:Class MONDO:0011388 biolink:NamedThing obsolete cervical cancer tmpaxzxjjyw_mondo_relaxed.owl cervical cancer True owl:Class MONDO:0000074 biolink:NamedThing obsolete neurodegeneration with brain iron accumulation tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018307 True owl:Class MONDO:0002611 biolink:NamedThing obsolete benign epilepsy with centrotemporal spikes tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007295 True owl:Class MONDO:0000196 biolink:NamedThing obsolete ataxia-oculomotor apraxia tmpaxzxjjyw_mondo_relaxed.owl Based on genetic heterogeneity of OMIM 208920. True owl:Class MONDO:0000097 biolink:NamedThing obsolete thyroid dyshormonogenesis tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000768 biolink:NamedThing obsolete Zika fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018661 True owl:Class MONDO:0005237 biolink:NamedThing obsolete pleomorphic liposarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020562 True owl:Class MONDO:0005199 biolink:NamedThing obsolete peripartum cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018920 True owl:Class MONDO:0007731 biolink:NamedThing obsolete HLA modifier tmpaxzxjjyw_mondo_relaxed.owl HLA modifier UMLS:C1840550|OMIM:142770 True owl:Class MONDO:0018372 biolink:NamedThing obsolete osteonecrosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005380 True owl:Class MONDO:0000877 biolink:NamedThing obsolete Cryptococcal meningitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005723 True owl:Class MONDO:0022676 biolink:NamedThing obsolete cataract - glaucoma tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0015567 True https://github.com/monarch-initiative/mondo/issues/2789 owl:Class MONDO:0016737 biolink:NamedThing obsolete ganglioneuroma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005033 True owl:Class MONDO:0011379 biolink:NamedThing obsolete medullary cystic kidney disease 2 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0008073 True https://github.com/monarch-initiative/mondo/issues/1880 owl:Class GO:0044433 biolink:NamedThing obsolete cytoplasmic vesicle part OBSOLETE. Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell. tmpaxzxjjyw_mondo_relaxed.owl GO:0031410 True owl:Class MONDO:0000851 biolink:NamedThing obsolete achondrogenesis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019648 True owl:Class MONDO:0011665 biolink:NamedThing obsolete Lennox-Gastaut syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016532 True owl:Class MONDO:0006064 biolink:NamedThing obsolete lactose intolerance tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009116 True owl:Class MONDO:0000403 biolink:NamedThing obsolete organ system cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004992 True owl:Class MONDO:0000203 biolink:NamedThing obsolete Dehydrated hereditary stomatocytosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017910 True owl:Class MONDO:0015189 biolink:NamedThing obsolete adenocarcinoma of small instestine An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003198 True owl:Class MONDO:0002296 biolink:NamedThing obsolete glomus tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018327 True owl:Class MONDO:0004654 biolink:NamedThing obsolete pyomyositis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019168 True owl:Class MONDO:0005930 biolink:NamedThing obsolete postpoliomyelitis syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017416 True owl:Class MONDO:0005587 biolink:NamedThing obsolete non-Hodgkins lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018908 True owl:Class MONDO:0006724 biolink:NamedThing obsolete desmoplastic small round cell tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019373 True owl:Class MONDO:0000106 biolink:NamedThing obsolete apnea tmpaxzxjjyw_mondo_relaxed.owl apnea|obsolete apnea (disease) obsolete apnea (disease) True owl:Class OIO:consider biolink:NamedThing consider tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0044267 biolink:NamedThing obsolete gcy tmpaxzxjjyw_mondo_relaxed.owl stature|tooth size|GCY|growth control, Y-chromosome influenced HGNC:4211 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0017883 biolink:NamedThing obsolete multilocular cystic clear cell renal cell neoplasm of low malignant potential tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003010 True owl:Class MONDO:0009819 biolink:NamedThing obsolete idiopathic juvenile osteoporosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019409 True owl:Class MONDO:0003977 biolink:NamedThing obsolete fibrillary astrocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016688 True owl:Class MONDO:0000735 biolink:NamedThing obsolete oculodentodigital dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008111 True owl:Class MONDO:0018176 biolink:NamedThing obsolete polymicrogyria tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000087 True owl:Class GO:0035636 biolink:NamedThing obsolete multi-organism signaling OBSOLETE. The transfer of information between living organisms. tmpaxzxjjyw_mondo_relaxed.owl signaling with other organism|multi-organism signalling|signaling between organisms|pheromone signaling True owl:Class IAO:0000113 biolink:NamedThing in branch An annotation property indicating which module the terms belong to. This is currently experimental and not implemented yet. tmpaxzxjjyw_mondo_relaxed.owl OBI_0000277 in branch GROUP:OBI owl:AnnotationProperty MONDO:0009991 biolink:NamedThing obsolete Rh deficiency syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019107 True owl:Class MONDO:0006756 biolink:NamedThing obsolete extracutaneous mastocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019025 True owl:Class GO:0120038 biolink:NamedThing obsolete plasma membrane bounded cell projection part OBSOLETE. Any constituent part of a plasma membrane bounded cell projection, a prolongation or process extending from a cell, e.g. a cilium or axon. tmpaxzxjjyw_mondo_relaxed.owl GO:0120025 True owl:Class MONDO:0016388 biolink:NamedThing obsolete bone sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021054 True owl:Class MONDO:0004070 biolink:NamedThing obsolete gemistocytic astrocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016689 True owl:Class MONDO:0004776 biolink:NamedThing obsolete infectious anterior uveitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017210 True owl:Class MONDO:0000579 biolink:NamedThing obsolete coronin-1A deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014168 True owl:Class MONDO:0003270 biolink:NamedThing obsolete ganglioglioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016733 True owl:Class MONDO:0002539 biolink:NamedThing obsolete oligodendroglioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016695 True owl:Class MONDO:0045031 biolink:NamedThing obsolete infectious diarrheal disease tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0001517 True https://github.com/monarch-initiative/mondo/issues/3703 owl:Class MONDO:0010934 biolink:NamedThing obsolete DFNB5 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000912 True owl:Class MONDO:0000080 biolink:NamedThing obsolete Oto-palato-digital syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010704 See description of OMIM 311300. Based on OMIM text I've included 305620 and 309350 in this series. "Frontometaphyseal dysplasia is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include otopalatodigital syndrome-1 (OPD1; 311300), otopalatodigital syndrome-2 (OPD2; 304120), and Melnick-Needles syndrome (MNS; 309350), constitute a phenotypic spectrum.". True owl:Class MONDO:0000547 biolink:NamedThing obsolete ovarian serous carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005211 True owl:Class MONDO:0010701 biolink:NamedThing obsolete opticoacoustic nerve atrophy with dementia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010578 True owl:Class OBO:mondo#should_conform_to biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000622 biolink:NamedThing obsolete cell type benign neoplasm tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005165 True owl:Class GO:1900402 biolink:NamedThing obsolete regulation of carbohydrate metabolic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of carbohydrate metabolic process. tmpaxzxjjyw_mondo_relaxed.owl regulation of carbohydrate metabolism by regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0001194 biolink:NamedThing obsolete rickettsialpox tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019360 True owl:Class MONDO:0000116 biolink:NamedThing obsolete cortical dysplasia, complex, with other brain malformations tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000904 True owl:Class MONDO:0000096 biolink:NamedThing obsolete pulmonary surfactant metabolism dysfunction tmpaxzxjjyw_mondo_relaxed.owl SMDP MONDO:0012580 OMIM series 265120. True owl:Class MONDO:0002349 biolink:NamedThing obsolete agammaglobulinemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015977 True owl:Class GO:0051193 biolink:NamedThing obsolete regulation of cofactor metabolic process OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a cofactor. tmpaxzxjjyw_mondo_relaxed.owl regulation of cofactor metabolism True owl:Class MONDO:0009639 biolink:NamedThing obsolete mitochondrial myopathy with lactic acidosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016825 True owl:Class MONDO:0018478 biolink:NamedThing obsolete primary hyperoxaluria tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002474 True owl:Class MONDO:0012356 biolink:NamedThing obsolete glomerulocystic kidney disease with hyperuricemia and isosthenuria tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0008073 True https://github.com/monarch-initiative/mondo/issues/1880 owl:Class MONDO:0016973 biolink:NamedThing obsolete thymoma type A tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002588 True owl:Class MONDO:0006334 biolink:NamedThing obsolete ovarian embryonal carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003581 True owl:Class MONDO:0005400 biolink:NamedThing obsolete ventricular fibrillation tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000190 True owl:Class MONDO:0024460 biolink:NamedThing obsolete Herpesviridae infections tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005794 True owl:Class MONDO:0003794 biolink:NamedThing obsolete mediastinal neurilemmoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004398 True owl:Class MONDO:0005793 biolink:NamedThing obsolete herpes simplex virus keratitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015288 True owl:Class MONDO:0002288 biolink:NamedThing obsolete ovarian cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016245 True owl:Class MONDO:0006110 biolink:NamedThing obsolete bladder adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002751 True owl:Class GO:2000531 biolink:NamedThing obsolete regulation of fatty acid biosynthetic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of the biosynthesis of fatty acids, by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0003339 biolink:NamedThing obsolete hepatoerythropoietic porphyria tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019799 True owl:Class MONDO:0034082 biolink:NamedThing obsolete necrobiosis lipoidica tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006583 True owl:Class MONDO:0004029 biolink:NamedThing obsolete ureter small cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006482 True owl:Class MONDO:0000285 biolink:NamedThing obsolete lujo hemorrhagic fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017872 True owl:Class MONDO:0010935 biolink:NamedThing obsolete neuronopathy, distal hereditary motor, type 5A tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015353 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/2354 owl:Class MONDO:0007575 biolink:NamedThing obsolete erythrokeratodermia variabilis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017851 True owl:Class MONDO:0001960 biolink:NamedThing obsolete Alpers syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008758 True owl:Class IAO:0000121 biolink:NamedThing organizational term term created to ease viewing/sort terms for development purpose, and will not be included in a release|Term created to ease viewing/sort terms for development purpose, and will not be included in a release tmpaxzxjjyw_mondo_relaxed.owl organizational term IAO:0000078 MONDO:0009004 biolink:NamedThing obsolete combined inflammatory and immunologic defect tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0014353 True https://github.com/monarch-initiative/mondo/issues/3799 owl:Class MONDO:0002820 biolink:NamedThing obsolete thyroid carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015075 True owl:Class MONDO:0023303 biolink:NamedThing obsolete Hamanishi-Ueba-Tsuji syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008809 True owl:Class MONDO:0015747 biolink:NamedThing obsolete Amish infantile epilepsy syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0012189 True owl:Class MONDO:0022464 biolink:NamedThing obsolete anophthalmia microcephaly hypogonadism tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/141 GARD:0000718 This term was found in the globalgenes.org rare disease list, but no information could be found about it. True owl:Class MONDO:0007703 biolink:NamedThing obsolete heart, malformation of tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009327 True owl:Class MONDO:0003793 biolink:NamedThing obsolete uterine carcinosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006485 True owl:Class MONDO:0018194 biolink:NamedThing obsolete sex cord-stromal tumor of testis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003125 True owl:Class MONDO:0005428 biolink:NamedThing obsolete pemphigus vulgaris tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008219 True owl:Class MONDO:0000094 biolink:NamedThing obsolete spherocytosis tmpaxzxjjyw_mondo_relaxed.owl spherocytosis|obsolete spherocytosis (disease) obsolete spherocytosis (disease) HP:0004444 True owl:Class MONDO:0000867 biolink:NamedThing obsolete multiple pterygium syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017415 True owl:Class MONDO:0019842 biolink:NamedThing obsolete pituitary apoplexy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006908 True owl:Class MONDO:0016900 biolink:NamedThing obsolete partial deletion of the long arm of chromosome 1 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0022756 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class GO:0044429 biolink:NamedThing obsolete mitochondrial part OBSOLETE. Any constituent part of a mitochondrion, a semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. tmpaxzxjjyw_mondo_relaxed.owl mitochondrion component|mitochondrial subcomponent GO:0005739 True owl:Class MONDO:0000593 biolink:NamedThing obsolete autoimmune disease of skin and connective tissue tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017841 True owl:Class MONDO:0006236 biolink:NamedThing obsolete granular cell tumor of the neurohypophysis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003256 True owl:Class MONDO:0018867 biolink:NamedThing obsolete maple syrup urine disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009563 True owl:Class MONDO:0016021 biolink:NamedThing obsolete early infantile epileptic encephalopathy tmpaxzxjjyw_mondo_relaxed.owl obsolete early infantile epileptic encephalopathy MONDO:0100062 This term will be renamed to 'developmental epileptic encephalopathy' in OMIM. True https://github.com/monarch-initiative/mondo/issues/2027 owl:Class GO:0044446 biolink:NamedThing obsolete intracellular organelle part OBSOLETE. A constituent part of an intracellular organelle, an organized structure of distinctive morphology and function, occurring within the cell. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton but excludes the plasma membrane. tmpaxzxjjyw_mondo_relaxed.owl GO:0043229 True owl:Class MONDO:0000623 biolink:NamedThing obsolete organ system benign neoplasm tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005165 True owl:Class MONDO:0002276 biolink:NamedThing obsolete arteriosclerotic cardiovascular disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002277 True owl:Class MONDO:0000126 biolink:NamedThing obsolete gastric cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001056 True owl:Class MONDO:0018012 biolink:NamedThing obsolete tetanus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005526 True owl:Class MONDO:0018275 biolink:NamedThing obsolete salt and pepper syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018274 This term was obsoleted from the source ontologies. True https://github.com/monarch-initiative/mondo/issues/1372#issuecomment-728742082 owl:Class MONDO:0000752 biolink:NamedThing obsolete myelomeningocele tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019773 True owl:Class MONDO:0005955 biolink:NamedThing obsolete scrub typhus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019365 True owl:Class MONDO:0005353 biolink:NamedThing obsolete marijuana dependence The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005689 True owl:Class MONDO:0002054 biolink:NamedThing obsolete breast cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007254 True owl:Class MONDO:0005123 biolink:NamedThing obsolete Hibiscus chlorotic ringspot virus infection tmpaxzxjjyw_mondo_relaxed.owl EFO:0000782 True owl:Class GO:0043902 biolink:NamedThing obsolete positive regulation of multi-organism process OBSOLETE. Any process that activates or increases the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0006538 biolink:NamedThing obsolete dermatitis herpetiformis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015614 True owl:Class MONDO:0016569 biolink:NamedThing obsolete rare lymphatic malformation tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002013 True https://github.com/monarch-initiative/mondo/issues/254|https://github.com/monarch-initiative/mondo/issues/416 owl:Class MONDO:0005816 biolink:NamedThing obsolete Japanese encephalitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019209 True owl:Class MONDO:0012201 biolink:NamedThing obsolete tibia, bowing of, with pseudarthrosis and pectus excavatum tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011806 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1702 owl:Class MONDO:0019663 biolink:NamedThing obsolete short rib-polydactyly syndrome, Saldino-Noonan type tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0013127 True https://github.com/monarch-initiative/mondo/issues/1376 owl:Class MONDO:0000433 biolink:NamedThing obsolete marginal zone B-cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006495 True owl:Class MONDO:0018707 biolink:NamedThing obsolete clear cell sarcoma of kidney tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005006 True owl:Class RO:0002161 biolink:NamedThing never in taxon tmpaxzxjjyw_mondo_relaxed.owl RO:0002161 True True never_in_taxon owl:AnnotationProperty MONDO:0001346 biolink:NamedThing obsolete distal muscular dystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018949 True owl:Class MONDO:0000999 biolink:NamedThing obsolete pneumoconiosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015926 True owl:Class MONDO:0018300 biolink:NamedThing obsolete genetic hyperaldosteronism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016525 True owl:Class MONDO:0001755 biolink:NamedThing obsolete vaginal carcinosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006488 True owl:Class GO:0044452 biolink:NamedThing obsolete nucleolar part OBSOLETE. Any constituent part of a nucleolus, a small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. tmpaxzxjjyw_mondo_relaxed.owl nucleolus component GO:0005730 True owl:Class MONDO:0005018 biolink:NamedThing obsolete diffuse large B-cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018905 True owl:Class MONDO:0000847 biolink:NamedThing obsolete pycnodysostosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009940 True owl:Class MONDO:0002589 biolink:NamedThing obsolete thymoma type AB tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016975 True owl:Class MONDO:0009314 biolink:NamedThing obsolete GTP-cyclohydrolase I deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100186 Created new term for GTP Cyclohydrolase I deficiency with hyperphenylalaninemia and created grouping class named GTP Cyclohydrolase I deficiency. Obsoleted this to avoid confusion with the new grouping class and the class this was renamed to. True https://github.com/monarch-initiative/mondo/issues/1491 owl:Class GO:0097755 biolink:NamedThing obsolete positive regulation of blood vessel diameter OBSOLETE. Any process that increases the diameter of blood vessels. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of vasodilation True owl:Class GO:1900389 biolink:NamedThing obsolete regulation of glucose import by regulation of transcription from RNA polymerase II promoter OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of glucose import. tmpaxzxjjyw_mondo_relaxed.owl regulation of glucose uptake by regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0011623 biolink:NamedThing obsolete spinocerebellar ataxia, autosomal recessive 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018996 duplicate True https://github.com/monarch-initiative/mondo/issues/48 owl:Class MONDO:0007394 biolink:NamedThing obsolete craniodiaphyseal dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009031 True owl:Class MONDO:0006441 biolink:NamedThing obsolete T-cell prolymphocytic leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019468 True owl:Class IAO:0000411 biolink:NamedThing is denotator type Relates an class defined in an ontology, to the type of it's denotator tmpaxzxjjyw_mondo_relaxed.owl In OWL 2 add AnnotationPropertyRange('is denotator type' 'denotator type') is denotator type Alan Ruttenberg owl:AnnotationProperty ENVO:00002004 biolink:NamedThing obsolete physical object of mesoscopic geological size An object which is large enough to be visible to humans, but small enough that humans can handle the object (i.e. transport it, examine it, etc) in its entirety with little to no technological assistance. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0018693 biolink:NamedThing obsolete kuru tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006825 True owl:Class MONDO:0000699 biolink:NamedThing obsolete homocarnosinosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009351 True owl:Class MONDO:0015964 biolink:NamedThing obsolete obsolete rare genetic palpebral, lacrimal system and conjunctival disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Obsolete in Orphanet UMLS:CN200563|Orphanet:183598 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0017254 biolink:NamedThing obsolete posterior uveitis tmpaxzxjjyw_mondo_relaxed.owl obsolete posterior uveitis (disease) obsolete posterior uveitis (disease) MONDO:0001280 True owl:Class MONDO:0018578 biolink:NamedThing obsolete hypophosphatemic rickets tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000044 True owl:Class MONDO:0006818 biolink:NamedThing obsolete keratoconjunctivitis sicca tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006733 True owl:Class MONDO:0011859 biolink:NamedThing obsolete distal myopathy with early respiratory muscle involvement tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011362 Obsoleted in Orphanet. True https://github.com/monarch-initiative/mondo/issues/2208 owl:Class MONDO:0022850 biolink:NamedThing obsolete congenital sucrose isomaltose malabsorption tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009114 True owl:Class MONDO:0000560 biolink:NamedThing obsolete spinocerebellar ataxia type 4 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010847 True owl:Class MONDO:0003536 biolink:NamedThing obsolete fallopian tube serous adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006208 True owl:Class MONDO:0006911 biolink:NamedThing obsolete placental site trophoblastic tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020552 True owl:Class MONDO:0008820 biolink:NamedThing obsolete arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0014243 True https://github.com/monarch-initiative/mondo/issues/2836 owl:Class GO:0031933 biolink:NamedThing obsolete telomeric heterochromatin OBSOLETE. Heterochromatic regions of the chromosome found at the telomeres. tmpaxzxjjyw_mondo_relaxed.owl telomeric chromatin True owl:Class MONDO:0003833 biolink:NamedThing obsolete severe combined immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl obsolete severe combined immunodeficiency (disease) obsolete severe combined immunodeficiency (disease) MONDO:0015974 True owl:Class MONDO:0019217 biolink:NamedThing obsolete inborn disorder of urea cycle metabolism and ammonia detoxification tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004739 duplicate True https://github.com/monarch-initiative/mondo/issues/1572 owl:Class MONDO:0004602 biolink:NamedThing obsolete polymyalgia rheumatica tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019735 True owl:Class MONDO:0022857 biolink:NamedThing obsolete continuous muscle fiber activity hereditary tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019943 True owl:Class MONDO:0018785 biolink:NamedThing obsolete nodular fasciitis A self-limiting, rapidly growing, non-encapsulated benign neoplasm that arises from the soft tissues. It is characterized by the presence of plump spindle-shaped fibroblasts, multinucleated osteoclast-like giant cells, chronic inflammatory infiltrate, red blood cell extravasation, and high mitotic activity. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004187 True owl:Class MONDO:0000142 biolink:NamedThing obsolete multiple congenital anomalies-hypotonia-seizures syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019042 True owl:Class MONDO:0003228 biolink:NamedThing obsolete myelodysplastic/myeloproliferative neoplasm tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006311 True owl:Class MONDO:0015309 biolink:NamedThing obsolete Auriculocondylar syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000107 True owl:Class MONDO:0044263 biolink:NamedThing obsolete lutheran suppressor, x-linked An X-linked recessive inhibitor (XS) of the Lutheran blood group system (OMIM:111200) has been reported.nnFor a discussion of Lutheran blood group phenotypes, see OMIM:247420. tmpaxzxjjyw_mondo_relaxed.owl LuxS|XS|Lutheran suppressor, X-linked HGNC:12837 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0004623 biolink:NamedThing obsolete prostate carcinoma in situ tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006234 True owl:Class MONDO:0003151 biolink:NamedThing obsolete movement disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005395 True owl:Class MONDO:0000876 biolink:NamedThing obsolete herpes simplex virus keratitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015288 True owl:Class MONDO:0003559 biolink:NamedThing obsolete cervical adenosquamous carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006134 True owl:Class MONDO:0019974 biolink:NamedThing obsolete postencephalitic parkinsonism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001945 True owl:Class MONDO:0024351 biolink:NamedThing obsolete familial pityriasis rubra pilaris tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0008251 True https://github.com/monarch-initiative/mondo/issues/3470 owl:Class MONDO:0004073 biolink:NamedThing obsolete dentin dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015613 True owl:Class MONDO:0006305 biolink:NamedThing obsolete mixed cell uveal melanoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003910 True owl:Class MONDO:0001264 biolink:NamedThing obsolete Kyasanur forest disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017881 True owl:Class MONDO:0002115 biolink:NamedThing obsolete pancreatic cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009831 True owl:Class MONDO:0017821 biolink:NamedThing obsolete functioning pituitary adenoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003429 True owl:Class IAO:0000410 biolink:NamedThing universal tmpaxzxjjyw_mondo_relaxed.owl A Formal Theory of Substances, Qualities, and Universals, http://ontology.buffalo.edu/bfo/SQU.pdf|A Formal Theory of Substances, Qualities, and Universals, http://ontology.buffalo.edu/bfo/SQU.pdf Hard to give a definition for. Intuitively a "natural kind" rather than a collection of any old things, which a class is able to be, formally. At the meta level, universals are defined as positives, are disjoint with their siblings, have single asserted parents.|Hard to give a definition for. Intuitively a "natural kind" rather than a collection of any old things, which a class is able to be, formally. At the meta level, universals are defined as positives, are disjoint with their siblings, have single asserted parents. universal Alan Ruttenberg|Alan Ruttenberg IAO:0000409 MONDO:0000713 biolink:NamedThing obsolete Balo concentric sclerosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016430 True owl:Class MONDO:0005889 biolink:NamedThing obsolete orthomyxoviridae infectious disease tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0005812 True https://github.com/monarch-initiative/mondo/issues/3204 owl:Class MONDO:0000054 biolink:NamedThing obsolete macular dystrophy tmpaxzxjjyw_mondo_relaxed.owl obsolete macular dystrophy (disease) obsolete macular dystrophy (disease) MONDO:0020242 True owl:Class MONDO:0000829 biolink:NamedThing obsolete early-onset Parkinson disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017279 True owl:Class MONDO:0004823 biolink:NamedThing obsolete dextrocardia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015661 True owl:Class dct:license biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0015952 biolink:NamedThing obsolete genetic neurodegenerative disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024237 True owl:Class MONDO:0000692 biolink:NamedThing obsolete Kleine-Levin syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007863 True owl:Class MONDO:0015080 biolink:NamedThing obsolete thymic tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005197 True owl:Class MONDO:0000016 biolink:NamedThing obsolete coronary heart disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005010 True owl:Class MONDO:0006310 biolink:NamedThing obsolete mucinuos carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004957 True owl:Class MONDO:0000574 biolink:NamedThing obsolete CD45 deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015702 True owl:Class MONDO:0000028 biolink:NamedThing obsolete epilepsy, hot water tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013229 True owl:Class MONDO:0001814 biolink:NamedThing obsolete patent ductus arteriosus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011827 True owl:Class MONDO:0006331 biolink:NamedThing obsolete ovarian carcinosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003792 True owl:Class MONDO:0018966 biolink:NamedThing obsolete isolated growth hormone deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000050 True owl:Class MONDO:0004814 biolink:NamedThing obsolete vascular skin disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019293 True owl:Class MONDO:0005513 biolink:NamedThing obsolete methylmalonic aciduria and homocystinuria type cblE tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009354 True owl:Class MONDO:0003162 biolink:NamedThing obsolete pilomyxoid astrocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016692 True owl:Class MONDO:0000576 biolink:NamedThing obsolete CD3delta deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014280 True owl:Class GO:1903759 biolink:NamedThing obsolete signal transduction involved in regulation of aerobic respiration OBSOLETE. Any signal transduction that is involved in regulation of aerobic respiration. tmpaxzxjjyw_mondo_relaxed.owl signalling cascade involved in regulation of aerobic respiration|signaling pathway involved in regulation of aerobic respiration|signaling cascade involved in regulation of aerobic respiration|signalling pathway involved in regulation of aerobic respiration True owl:Class MONDO:0006860 biolink:NamedThing obsolete mucoepidermoid tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003036 True owl:Class MONDO:0000086 biolink:NamedThing obsolete polydactyly, preaxial tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017425 True owl:Class MONDO:0004424 biolink:NamedThing obsolete familial glomangioma tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0007672 True https://github.com/monarch-initiative/mondo/issues/3168 owl:Class MONDO:0005088 biolink:NamedThing obsolete rheumatoid arthritis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008383 True owl:Class MONDO:0000613 biolink:NamedThing obsolete estrogen-receptor positive breast cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006512 True owl:Class MONDO:0011865 biolink:NamedThing obsolete COL4A1-related familial vascular leukoencephalopathy A brain disease characterized by autosomal dominant inheritance of fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has material basis in heterozygous mutation in the COL4A1 gene on chromosome 13q34. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008289 True owl:Class MONDO:0002985 biolink:NamedThing obsolete pustulosis of palm and sole tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015597 True owl:Class MONDO:0001908 biolink:NamedThing obsolete hypophosphatasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018570 True owl:Class MONDO:0000278 biolink:NamedThing obsolete Bolivian hemorrhagic fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017875 True owl:Class MONDO:0002700 biolink:NamedThing obsolete epithelioid trophoblastic tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016787 True owl:Class MONDO:0007292 biolink:NamedThing obsolete celiac artery stenosis from compression by median arcuate ligament of diaphragm tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0004914 True https://github.com/monarch-initiative/mondo/issues/3691 owl:Class MONDO:0002827 biolink:NamedThing obsolete urinary system cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006295 True owl:Class MONDO:0015190 biolink:NamedThing obsolete leiomyosarcoma of small intestine tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003360 True owl:Class MONDO:0004388 biolink:NamedThing obsolete testicular spermatocytic seminoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020513 True owl:Class MONDO:0003488 biolink:NamedThing obsolete anal squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006082 True owl:Class MONDO:0002160 biolink:NamedThing obsolete cerebral palsy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006497 True owl:Class GO:0006733 biolink:NamedThing obsolete oxidoreduction coenzyme metabolic process OBSOLETE. The chemical reactions and pathways involving coenzymes that are required, in addition to an enzyme and a substrate, for an oxidoreductase reaction to proceed. tmpaxzxjjyw_mondo_relaxed.owl oxidoreduction coenzyme metabolism True owl:Class MONDO:0000604 biolink:NamedThing obsolete autonomic peripheral neuropathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001300 True owl:Class MONDO:0000319 biolink:NamedThing obsolete infant botulism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015804 True owl:Class MONDO:0007326 biolink:NamedThing obsolete paroxysmal nonkinesigenic dyskinesia 1 tmpaxzxjjyw_mondo_relaxed.owl term split MONDO:0700089 True https://github.com/monarch-initiative/mondo/issues/3265 owl:Class MONDO:0000785 biolink:NamedThing obsolete peach allergy A allergy involving a Prunus persica. tmpaxzxjjyw_mondo_relaxed.owl Prunus persica allergic disease|Prunus persica caused allergic disease|allergy of Prunus persica|Prunus persica fruit allergy MONDO:outOfScope DOID:0060510 True https://github.com/monarch-initiative/mondo/issues/498 owl:Class MONDO:0019381 biolink:NamedThing obsolete eastern equine encephalitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005736 True owl:Class MONDO:0002161 biolink:NamedThing obsolete fallopian tube carcinosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006207 True owl:Class MONDO:0003226 biolink:NamedThing obsolete Nelson syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016035 True owl:Class MONDO:0003823 biolink:NamedThing obsolete transient hypogammaglobulinemia of infancy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015698 True owl:Class GO:1900418 biolink:NamedThing obsolete positive regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of purine nucleotide biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl upregulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide anabolism by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|up-regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|up regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide formation by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide synthesis by positive regulation of transcription from RNA polymerase II promoter|upregulation of purine nucleotide biosynthesis by positive regulation of transcription from RNA polymerase II promoter|activation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0015423 biolink:NamedThing obsolete anaplastic thyroid carcinoma Anaplastic thyroid carcinoma may represent the ultimate dedifferentiation step of thyroid tumorigenesis and is one of the most severe cancers in humans. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006468 True owl:Class MONDO:0000033 biolink:NamedThing obsolete frontonasal dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016643 True owl:Class MONDO:0020810 biolink:NamedThing obsolete congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0020628 True https://github.com/monarch-initiative/mondo/issues/767 owl:Class MONDO:0010445 biolink:NamedThing obsolete McLeod syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018945 True owl:Class MONDO:0002231 biolink:NamedThing obsolete malignant ovarian germ cell neoplasm tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018171 True owl:Class MONDO:0007611 biolink:NamedThing obsolete Zimmermann-Laband syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000200 True owl:Class MONDO:0000617 biolink:NamedThing obsolete Her2-receptor positive breast cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006244 True owl:Class MONDO:0000737 biolink:NamedThing obsolete megalocornea tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009576 True owl:Class MONDO:0022418 biolink:NamedThing obsolete alopecia immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011132 Editor note: removed from GARD, merged with MONDO:0011132 True owl:Class MONDO:0003456 biolink:NamedThing obsolete bile duct mucinous cystic neoplasm tmpaxzxjjyw_mondo_relaxed.owl See Bile Duct Cystadenoma NCIT:C37215|UMLS:C1334253|DOID:5469 True owl:Class GO:0100036 biolink:NamedThing obsolete positive regulation of purine nucleotide biosynthetic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates purine nucleotide biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000076 biolink:NamedThing obsolete neuropathy, hereditary sensory and autonomic tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015364 True owl:Class OIO:hasAlternativeId biolink:NamedThing has_alternative_id tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0004138 biolink:NamedThing obsolete maxillary sinus adenoid cystic carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006297 True owl:Class MONDO:0018985 biolink:NamedThing obsolete trench fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005991 True owl:Class MONDO:0002557 biolink:NamedThing obsolete schwannomatosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008075 True owl:Class MONDO:0002662 biolink:NamedThing obsolete plague tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019095 True owl:Class MONDO:0018367 biolink:NamedThing obsolete clear cell adenocarcinoma of ovary tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006045 True owl:Class MONDO:0019244 biolink:NamedThing obsolete glycogen storage disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002412 True owl:Class MONDO:0012632 biolink:NamedThing obsolete Alzheimer disease 15 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0011401 True https://github.com/monarch-initiative/mondo/issues/2767 owl:Class MONDO:0019163 biolink:NamedThing obsolete pseudoxanthoma elasticum tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009925 True owl:Class MONDO:0002925 biolink:NamedThing obsolete extraosseous Ewing's sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018270 True owl:Class MONDO:0012281 biolink:NamedThing obsolete sarcoidosis, early-onset tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008523 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1703 owl:Class MONDO:0003099 biolink:NamedThing obsolete endophthalmitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016047 True owl:Class MONDO:0006296 biolink:NamedThing obsolete mast cell sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019024 True owl:Class MONDO:0000353 biolink:NamedThing obsolete Saldino-Noonan syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019663 True owl:Class MONDO:0000655 biolink:NamedThing obsolete heavy chain disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019464 True owl:Class MONDO:0017374 biolink:NamedThing obsolete polydactyly tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011348 True owl:Class MONDO:0011515 biolink:NamedThing obsolete papillary renal cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017884 True owl:Class MONDO:0000398 biolink:NamedThing obsolete female breast cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004379 True owl:Class MONDO:0006822 biolink:NamedThing obsolete Klatskin's tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003345 True owl:Class MONDO:0004807 biolink:NamedThing obsolete Loeffler syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019122 True owl:Class MONDO:0001937 biolink:NamedThing obsolete LEOPARD syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007893 True owl:Class MONDO:0006171 biolink:NamedThing obsolete conjunctival melanoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002096 True owl:Class GO:0035947 biolink:NamedThing obsolete regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of gluconeogenesis, by regulation of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl regulation of gluconeogenesis by regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by regulation of transcription from Pol II promoter|regulation of glucose biosynthesis by regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by regulation of transcription from Pol II promoter True owl:Class MONDO:0000580 biolink:NamedThing obsolete CD40 ligand deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010626 True owl:Class MONDO:0004655 biolink:NamedThing obsolete acute megakaryoblastic leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018872 True owl:Class MONDO:0004011 biolink:NamedThing obsolete familial melanoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018961 True owl:Class MONDO:0024404 biolink:NamedThing obsolete meningitis caused by anaerobic bacteria tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002000 True owl:Class MONDO:0002830 biolink:NamedThing obsolete ovary transitional cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006343 True owl:Class MONDO:0000454 biolink:NamedThing obsolete multiple synostoses syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017923 True owl:Class MONDO:0000317 biolink:NamedThing obsolete foodborne botulism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016453 True owl:Class MONDO:0005474 biolink:NamedThing obsolete non-small cell lung adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005061 True owl:Class MONDO:0001489 biolink:NamedThing obsolete urticaria pigmentosa tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019316 True owl:Class MONDO:0001047 biolink:NamedThing obsolete adrenal cortical hypofunction tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000004 True owl:Class MONDO:0000006 biolink:NamedThing obsolete alopecia-mental retardation syndrome tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000064 biolink:NamedThing obsolete syndromic microphthalmia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016073 True owl:Class MONDO:0016590 biolink:NamedThing obsolete collecting duct carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005220 True owl:Class MONDO:0000767 biolink:NamedThing obsolete nut midline carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005563 True owl:Class MONDO:0003015 biolink:NamedThing obsolete malignant biphasic mesothelioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006109 True owl:Class MONDO:0010107 biolink:NamedThing obsolete testicular regression syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:800012 This term was split into two terms: MONDO:8000015 46,XY SEX REVERSAL 11 and MONDO:800012 testicular regression syndrome'. True owl:Class GO:0035948 biolink:NamedThing obsolete positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that activates or increases the frequency, rate or extent of gluconeogenesis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl regulation of gluconeogenesis by upregulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by upregulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthesis by positive regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by up regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by up-regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by upregulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by stimulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthesis by up regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthesis by positive regulation of transcription from Pol II promoter|regulation of glucose biosynthetic process by up regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by up-regulation of transcription from RNA polymerase II promoter|regulation of glucose biosynthetic process by positive regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by up-regulation of transcription from RNA polymerase II promoter|regulation of gluconeogenesis by activation of transcription from RNA polymerase II promoter True owl:Class MONDO:0000113 biolink:NamedThing obsolete cerebellar ataxia, mental retardation, and dysequilibrium syndrome tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0015242 biolink:NamedThing obsolete aspergillosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005657 True owl:Class MONDO:0003167 biolink:NamedThing obsolete pleomorphic xanthoastrocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016690 True owl:Class MONDO:0004692 biolink:NamedThing obsolete choledochal cyst tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018805 True owl:Class MONDO:0003521 biolink:NamedThing obsolete VIPoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019960 True owl:Class MONDO:0019425 biolink:NamedThing obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0010574 True https://github.com/monarch-initiative/mondo/issues/2843 owl:Class MONDO:0018366 biolink:NamedThing obsolete mucinous adenocarcinoma of ovary tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005601 True owl:Class MONDO:0004734 biolink:NamedThing obsolete erythromelalgia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016028 True owl:Class OIO:inSubset biolink:NamedThing in_subset tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0020319 biolink:NamedThing obsolete acute myeloblastic leukemia without maturation tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005224 True owl:Class MONDO:0000427 biolink:NamedThing obsolete autosomal recessive disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006025 True owl:Class MONDO:0060722 biolink:NamedThing obsolete neurodevelopmental disorder with brain, liver, and lung abnormalities tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013346 True owl:Class MONDO:0004437 biolink:NamedThing obsolete gastric signet ring cell adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006409 True owl:Class MONDO:0008191 biolink:NamedThing obsolete human papillomavirus type 18 integration site 2 tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/hgnc/5167 True owl:Class MONDO:0019166 biolink:NamedThing obsolete strongyloidiasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005974 True owl:Class MONDO:0004300 biolink:NamedThing obsolete intracortical osteogenic sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002631 True owl:Class MONDO:0019106 biolink:NamedThing obsolete disseminated peritoneal leiomyomatosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006183 True owl:Class MONDO:0011666 biolink:NamedThing obsolete maturity-onset diabetes of the young tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018911 True owl:Class MONDO:0022652 biolink:NamedThing obsolete cardiomyopathy dilated with conduction defect type 2 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011003 duplicate True https://github.com/monarch-initiative/mondo/issues/2328 owl:Class MONDO:0020564 biolink:NamedThing obsolete well-differentiated liposarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005103 True owl:Class MONDO:0000025 biolink:NamedThing obsolete familial cold autoinflammatory syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018768 True owl:Class MONDO:0000165 biolink:NamedThing obsolete ectodermal dysplasia-syndactyly syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013311 True owl:Class dc:identifier biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0002445 biolink:NamedThing obsolete hemoglobin c disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016242 True owl:Class GO:0044439 biolink:NamedThing obsolete peroxisomal part OBSOLETE. Any constituent part of a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2). tmpaxzxjjyw_mondo_relaxed.owl peroxisome component GO:0005777 True owl:Class MONDO:0018915 biolink:NamedThing obsolete pneumococcal meningitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006913 True owl:Class MONDO:0005726 biolink:NamedThing obsolete cysticercosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015484 True owl:Class MONDO:0004722 biolink:NamedThing obsolete Wiskott-Aldrich syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010518 True owl:Class GO:0051186 biolink:NamedThing obsolete cofactor metabolic process OBSOLETE. The chemical reactions and pathways involving a cofactor, a substance that is required for the activity of an enzyme or other protein. Cofactors may be inorganic, such as the metal atoms zinc, iron, and copper in certain forms, or organic, in which case they are referred to as coenzymes. Cofactors may either be bound tightly to active sites or bind loosely with the substrate. tmpaxzxjjyw_mondo_relaxed.owl cofactor metabolism True owl:Class MONDO:0019331 biolink:NamedThing obsolete rare form of salmonellosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000827 We want to remove rare X terms from Mondo. True https://github.com/monarch-initiative/mondo/issues/1747 owl:Class MONDO:0022423 biolink:NamedThing obsolete alpha-2 deficient collagen disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008761 Duplicate. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0005331 biolink:NamedThing obsolete acrocephalosyndactylia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019796 True owl:Class MONDO:0021087 biolink:NamedThing obsolete malignant granular cell myoblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003252 True owl:Class MONDO:0015862 biolink:NamedThing obsolete embryonal carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005440 True owl:Class MONDO:0005069 biolink:NamedThing obsolete narcolepsy with cataplexy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016158 True owl:Class MONDO:0006370 biolink:NamedThing obsolete pineoblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016722 True owl:Class MONDO:0002793 biolink:NamedThing obsolete medullomyoblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006300 True owl:Class MONDO:0000404 biolink:NamedThing obsolete cell type cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004992 True owl:Class MONDO:0020329 biolink:NamedThing obsolete classic Hodgkin lymphoma, lymphocyte-rich type tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0004604 True https://github.com/monarch-initiative/mondo/issues/3001 owl:Class MONDO:0003560 biolink:NamedThing obsolete adenosquamous pancreas carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005614 True owl:Class MONDO:0002906 biolink:NamedThing obsolete scleroderma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019340 True owl:Class MONDO:0010715 biolink:NamedThing obsolete pseudohermaphroditism, incomplete male, type 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010720 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1697 owl:Class MONDO:0018726 biolink:NamedThing obsolete immunodeficiency due to a complement cascade component deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003832 True owl:Class MONDO:0012649 biolink:NamedThing obsolete FTSD tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044871 True owl:Class MONDO:0000197 biolink:NamedThing obsolete singleton-Merten syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008429 True owl:Class MONDO:0012616 biolink:NamedThing obsolete MRT8 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013676 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1706 owl:Class IAO:0000420 biolink:NamedThing defined class A defined class is a class that is defined by a set of logically necessary and sufficient conditions but is not a universal|A defined class is a class that is defined by a set of logically necessary and sufficient conditions but is not a universal tmpaxzxjjyw_mondo_relaxed.owl "definitions", in some readings, always are given by necessary and sufficient conditions. So one must be careful (and this is difficult sometimes) to distinguish between defined classes and universal.|"definitions", in some readings, always are given by necessary and sufficient conditions. So one must be careful (and this is difficult sometimes) to distinguish between defined classes and universal. defined class Alan Ruttenberg|Alan Ruttenberg IAO:0000409 GO:1900403 biolink:NamedThing obsolete negative regulation of cellular amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cellular amino acid biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cellular amino acid synthesis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid anabolism by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid biosynthesis by negative regulation of transcription from RNA polymerase II promoter|negative regulation of cellular amino acid formation by negative regulation of transcription from RNA polymerase II promoter|negative regulation of amino acid biosynthetic process by negative regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0003324 biolink:NamedThing obsolete stromal predominant kidney Wilms' tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006432 True owl:Class MONDO:0018836 biolink:NamedThing obsolete subcorneal pustular dermatosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006614 True owl:Class MONDO:0000881 biolink:NamedThing obsolete myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0015688 True https://github.com/monarch-initiative/mondo/issues/3845 owl:Class MONDO:0003102 biolink:NamedThing obsolete perineurioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019404 True owl:Class MONDO:0010942 biolink:NamedThing obsolete eukaryotic translation elongation factor 1 alpha-1-like 14 tmpaxzxjjyw_mondo_relaxed.owl eukaryotic translation elongation factor 1 ALPHA-1-like 14|eukaryotic translation elongation Factor 1 Alpha-1-like type 14|prostatic carcinoma tumor-inducing Gene 1|EEF1A1L14 OMIM:600841 True owl:Class MONDO:0005268 biolink:NamedThing obsolete Hashimoto's thyroiditis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007699 True owl:Class MONDO:0020085 biolink:NamedThing obsolete mastocytosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007950 True owl:Class MONDO:0005456 biolink:NamedThing obsolete avian influenza tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018695 True owl:Class MONDO:0000043 biolink:NamedThing obsolete hypomagnesemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018100 True owl:Class MONDO:0000635 biolink:NamedThing obsolete osteoblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018936 True owl:Class MONDO:0002458 biolink:NamedThing obsolete acute pancreatitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006515 True owl:Class MONDO:0000223 biolink:NamedThing obsolete chikungunya tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017941 True owl:Class MONDO:0015373 biolink:NamedThing obsolete Saldino-Mainzer syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009964 True https://github.com/monarch-initiative/mondo/issues/1624 owl:Class GO:0051181 biolink:NamedThing obsolete cofactor transport OBSOLETE. The directed movement of a cofactor into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A cofactor is a substance that is required for the activity of an enzyme or other protein. tmpaxzxjjyw_mondo_relaxed.owl vitamin or cofactor transport True owl:Class MONDO:0016753 biolink:NamedThing obsolete benign schwannoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002546 True owl:Class MONDO:0020700 biolink:NamedThing obsolete microcephaly, short stature, and impaired glucose metabolism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000208 True owl:Class MONDO:0000083 biolink:NamedThing obsolete Griscelli syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018306 True owl:Class MONDO:0010303 biolink:NamedThing obsolete colobomatous microphthalmia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000170 Duplicate. True https://github.com/monarch-initiative/mondo/issues/2533 owl:Class http://www.w3.org/2004/02/skos/core#narrowMatch biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0001839 biolink:NamedThing obsolete interstitial cystitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018301 True owl:Class MONDO:0005612 biolink:NamedThing obsolete ovarian leiomyosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003355 True owl:Class MONDO:0003798 biolink:NamedThing obsolete epithelioid sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017387 True owl:Class MONDO:0003491 biolink:NamedThing obsolete rectum squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018515 True owl:Class MONDO:0003981 biolink:NamedThing obsolete cervix small cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006142 True owl:Class MONDO:0000207 biolink:NamedThing obsolete hypotonia, infantile, with psychomotor retardation and characteristic facies tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014176 True owl:Class MONDO:0005000 biolink:NamedThing obsolete chromophobe renal cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017885 True owl:Class MONDO:0006959 biolink:NamedThing obsolete Schnitzler syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018304 True owl:Class MONDO:0016076 biolink:NamedThing obsolete lymphatic filariasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005761 True https://github.com/monarch-initiative/mondo/issues/842 owl:Class MONDO:0002001 biolink:NamedThing obsolete disease of cellular proliferation tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005070 True owl:Class MONDO:0035354 biolink:NamedThing obsolete IgG4-related systemic disease tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0017287 True https://github.com/monarch-initiative/mondo/issues/3539 owl:Class MONDO:0002018 biolink:NamedThing obsolete Leber congenital amaurosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018998 True owl:Class MONDO:0011769 biolink:NamedThing obsolete familial aortic dissection tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019625 True https://github.com/monarch-initiative/mondo/issues/408 owl:Class MONDO:0000896 biolink:NamedThing obsolete chronic neutrophilic leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006148 True owl:Class MONDO:0010009 biolink:NamedThing obsolete SC phocomelia syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100282 This term was split into a combined parent class (Roberts-SC phocomelia syndrome) and the children classes. True https://github.com/monarch-initiative/mondo/issues/2553 owl:Class GO:0100025 biolink:NamedThing obsolete negative regulation of cellular amino acid biosynthetic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that negatively regulates cellular amino acid biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0004589 biolink:NamedThing obsolete hereditary retinal dystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019118 True owl:Class MONDO:0003696 biolink:NamedThing obsolete meningeal melanocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016746 True owl:Class MONDO:0000868 biolink:NamedThing obsolete mitochondrial DNA depletion syndrome 6 tmpaxzxjjyw_mondo_relaxed.owl mitochondrial DNA depletion syndrome type 6|MTDPS6 MONDO:0009747 True owl:Class MONDO:0044266 biolink:NamedThing obsolete xm system Berg and Bearn (1966, 1966) discovered an X-linked serum protein type by means of heteroantiserum made specific by absorption. Since the group-specific antigen appears to be located in the alpha-2-macroglobulin of serum, the name Xm was assigned to the system. The distribution of phenotypes in families and in populations was consistent with X-linkage. tmpaxzxjjyw_mondo_relaxed.owl XM system HGNC:12813 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0005241 biolink:NamedThing obsolete adrenocortical carcinoma tmpaxzxjjyw_mondo_relaxed.owl obsolete adrenocortical carcinoma (disease) obsolete adrenocortical carcinoma (disease) MONDO:0006639 True owl:Class MONDO:0022651 biolink:NamedThing obsolete cardiomyopathy dilated with conduction defect type 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007269 duplicate True https://github.com/monarch-initiative/mondo/issues/2328 owl:Class MONDO:0004480 biolink:NamedThing obsolete pancreatic invasive intraductal papillary-mucinous carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004481 True owl:Class MONDO:0017679 biolink:NamedThing obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature tmpaxzxjjyw_mondo_relaxed.owl autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature MONDO:outOfScope This is a grouping class and is not needed clinically. It is basically a generic disease with a phenotypic feature. Orphanet:308031|UMLS:CN203566 True https://github.com/monarch-initiative/mondo/pull/2317|https://github.com/monarch-initiative/mondo/issues/2662 owl:Class MONDO:0007684 biolink:NamedThing obsolete granulomatous disease, chronic, autosomal dominant type tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0010600 True https://github.com/monarch-initiative/mondo/issues/3797 owl:Class MONDO:0100141 biolink:NamedThing obsolete moderate COVID-19 infection A COVID-19 infection where individuals who have evidence of lower respiratory disease by clinical assessment or imaging and a saturation of oxygen (SpO2) >93% on room air at sea level. tmpaxzxjjyw_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0006958 biolink:NamedThing obsolete SAPHO syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019266 True owl:Class MONDO:0000098 biolink:NamedThing obsolete thyrotoxic periodic paralysis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019201 True owl:Class MONDO:0015276 biolink:NamedThing obsolete prostate cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008315 True owl:Class MONDO:0008032 biolink:NamedThing obsolete autosomal dominant limb-girdle muscular dystrophy type 1A tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0012215 True https://github.com/monarch-initiative/mondo/issues/2733 owl:Class MONDO:0013451 biolink:NamedThing obsolete progressive myoclonic epilepsy type 5 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011835 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1707 owl:Class OIO:hasDbXref biolink:NamedThing database_cross_reference tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0013019 biolink:NamedThing obsolete spondyloepimetaphyseal dysplasia, Pakistani type tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019666 True owl:Class MONDO:0002111 biolink:NamedThing obsolete peritoneal mesothelioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006362 True owl:Class MONDO:0002663 biolink:NamedThing obsolete systemic mastocytosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016586 True owl:Class MONDO:0000130 biolink:NamedThing obsolete hypercarotenemia and vitamin a deficiency tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0003074 biolink:NamedThing obsolete familial retinoblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018160 True owl:Class MONDO:0015058 biolink:NamedThing obsolete Waterhouse-Friderichsen syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006015 True owl:Class MONDO:0021252 biolink:NamedThing obsolete lung hilum neoplasm tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003639 True owl:Class MONDO:0015472 biolink:NamedThing obsolete cryptococcosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005724 True owl:Class MONDO:0015670 biolink:NamedThing obsolete cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004994 True owl:Class GO:0006732 biolink:NamedThing obsolete coenzyme metabolic process OBSOLETE. The chemical reactions and pathways involving coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed. tmpaxzxjjyw_mondo_relaxed.owl group transfer coenzyme metabolic process|coenzyme and prosthetic group metabolic process|group transfer coenzyme metabolism|coenzyme metabolism|coenzyme and prosthetic group metabolism True owl:Class MONDO:0000052 biolink:NamedThing obsolete leukodystrophy, hypomyelinating tmpaxzxjjyw_mondo_relaxed.owl True owl:Class dc:creator biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0003385 biolink:NamedThing obsolete cervical clear cell adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006135 True owl:Class MONDO:0000325 biolink:NamedThing obsolete pachyonychia congenita tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016471 True owl:Class MONDO:0006194 biolink:NamedThing obsolete endometrial mucinous adenocarcinoma A primary, usually low grade adenocarcinoma of the endometrium in which the majority of the malignant epithelial cells contain abundant intracytoplasmic mucin. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002747 True owl:Class MONDO:0006501 biolink:NamedThing obsolete inflammatory skin disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002406 Duplicate True https://github.com/monarch-initiative/mondo/issues/377 owl:Class MONDO:0002315 biolink:NamedThing obsolete hereditary spastic paraplegia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019064 True owl:Class MONDO:0005540 biolink:NamedThing obsolete rectal adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002169 True owl:Class GO:0044438 biolink:NamedThing obsolete microbody part OBSOLETE. Any constituent part of a microbody, a cytoplasmic organelle, spherical or oval in shape, that is bounded by a single membrane and contains oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). tmpaxzxjjyw_mondo_relaxed.owl GO:0042579 True owl:Class MONDO:0002007 biolink:NamedThing obsolete VACTERL association tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008642 True owl:Class MONDO:0019221 biolink:NamedThing obsolete creatine deficiency syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000456 True owl:Class MONDO:0000007 biolink:NamedThing obsolete atypical Mycobacteriosis, familial tmpaxzxjjyw_mondo_relaxed.owl OMIM 209950 lists 300636 and 300645 as other types of this disease. True owl:Class MONDO:0003974 biolink:NamedThing obsolete malignant triton tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016757 True owl:Class MONDO:0000268 biolink:NamedThing obsolete lymphoid interstitial pneumonia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009537 True owl:Class GO:0055114 biolink:NamedThing obsolete oxidation-reduction process OBSOLETE. A metabolic process that results in the removal or addition of one or more electrons to or from a substance, with or without the concomitant removal or addition of a proton or protons. tmpaxzxjjyw_mondo_relaxed.owl oxidation reduction|oxidoreductase process True owl:Class MONDO:0000998 biolink:NamedThing obsolete parotid disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005899 True owl:Class MONDO:0002484 biolink:NamedThing obsolete breast ductal carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005590 True owl:Class MONDO:0000322 biolink:NamedThing obsolete Carrion disease A disease caused by infection with Bartonella bacilliformis. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018984 True owl:Class MONDO:0005622 biolink:NamedThing obsolete vasculitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018882 True owl:Class MONDO:0018099 biolink:NamedThing obsolete Whipple disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005116 True owl:Class MONDO:0002600 biolink:NamedThing obsolete mixed germ cell cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015864 True owl:Class MONDO:0001545 biolink:NamedThing obsolete von willebrand disease tmpaxzxjjyw_mondo_relaxed.owl obsolete von willebrand's disease MONDO:0019565 True owl:Class MONDO:0006703 biolink:NamedThing obsolete chronic interstitial cystitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018301 True owl:Class MONDO:0002294 biolink:NamedThing obsolete gangliocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016730 True owl:Class MONDO:0007596 biolink:NamedThing obsolete factor VIII deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010602 True owl:Class MONDO:0001140 biolink:NamedThing obsolete Edwards syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018071 True owl:Class MONDO:0005261 biolink:NamedThing obsolete pervasive developmental disorder - not otherwise specified tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0005258 True https://github.com/monarch-initiative/mondo/issues/2505 owl:Class MONDO:0007324 biolink:NamedThing obsolete chorea tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001595 True owl:Class MONDO:0000219 biolink:NamedThing obsolete uncombable hair syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008621 True owl:Class MONDO:0014879 biolink:NamedThing obsolete patent ductus arteriosus 3 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024266 True owl:Class MONDO:0012234 biolink:NamedThing obsolete LFS3 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007903 True owl:Class MONDO:0006269 biolink:NamedThing obsolete liver inflammatory myofibroblastic tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004726 True owl:Class MONDO:0010059 biolink:NamedThing obsolete spinal muscular atrophy, type I, with congenital bone fractures tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014806 OMIM merged these records. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0013347 biolink:NamedThing obsolete gastric cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001056 True owl:Class MONDO:0000729 biolink:NamedThing obsolete congenital ptosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008340 True owl:Class MONDO:0002530 biolink:NamedThing obsolete malignant spindle cell melanoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006427 True owl:Class MONDO:0003344 biolink:NamedThing obsolete hemangioblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016748 True owl:Class MONDO:0000897 biolink:NamedThing obsolete chronic myelomonocytic leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020311 True owl:Class MONDO:0029146 biolink:NamedThing obsolete Saul-Wilson syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019407 True owl:Class MONDO:0001891 biolink:NamedThing obsolete malignant anus melanoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006081 True owl:Class MONDO:0000886 biolink:NamedThing obsolete meningococcal meningitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006852 True owl:Class MONDO:0005600 biolink:NamedThing obsolete ovarian adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002752 True owl:Class MONDO:0018518 biolink:NamedThing obsolete adenocarcinoma of the anal canal tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002735 True owl:Class MONDO:0045028 biolink:NamedThing obsolete radiation or chemically induced disorder A disease or disorder that is induced by either chemical or radiation exposure. tmpaxzxjjyw_mondo_relaxed.owl out of scope True https://github.com/monarch-initiative/mondo/issues/3414 owl:Class MONDO:0016257 biolink:NamedThing obsolete adenosarcoma of the corpus uteri tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002878 Duplicate True https://github.com/monarch-initiative/mondo/issues/372 owl:Class MONDO:0017854 biolink:NamedThing obsolete T-b+ severe combined immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0009065 biolink:NamedThing obsolete cystinosis, nephropathic tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100151 True https://github.com/monarch-initiative/mondo/issues/960 owl:Class IAO:0006011 biolink:NamedThing may be identical to A annotation relationship between two terms in an ontology that may refer to the same (natural) type but where more evidence is required before terms are merged. tmpaxzxjjyw_mondo_relaxed.owl #40 VFB Edges asserting this should be annotated with to record evidence supporting the assertion and its provenance. may be identical to David Osumi-Sutherland owl:AnnotationProperty MONDO:0018704 biolink:NamedThing obsolete actinomycosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005631 True owl:Class MONDO:0023037 biolink:NamedThing obsolete elongated styloid process syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0023035 True owl:Class MONDO:0001344 biolink:NamedThing obsolete neonatal diabetes mellitus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016391 True owl:Class MONDO:0016279 biolink:NamedThing obsolete adenosarcoma of the cervix uteri Adenosarcoma of the cervix uteri is a rare subtype of malignant mixed epithelial and mesenchymal tumor composed of benign or mildly atypical glandular elements and a surrounding low-grade malignant stroma, often containing heterologous elements, such as areas of sex-cord-like or smooth muscle differentiation. It usually presents with vaginal bleeding or discharge, lower abdominal pain and/or a cervical mass or polyp. The tumor may arise from pre-existing endometriosis and patients may have a history of recurrent cervical polyps. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002876 True owl:Class MONDO:0002391 biolink:NamedThing obsolete skin sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006414 True owl:Class MONDO:0020239 biolink:NamedThing obsolete color-vision disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001703 True owl:Class MONDO:0019510 biolink:NamedThing obsolete autosomal dominant medullary cystic kidney disease without hyperuricemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020726 This was a duplicate with autosomal dominant medullary cystic kidney disease without hyperuricemia. True https://github.com/monarch-initiative/mondo/issues/1878 owl:Class MONDO:0006113 biolink:NamedThing obsolete bladder small cell neuroendocrine carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004114 True owl:Class MONDO:0000199 biolink:NamedThing obsolete familial adenomatous polyposis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021055 True owl:Class MONDO:0000063 biolink:NamedThing obsolete molybdenum cofactor deficiency tmpaxzxjjyw_mondo_relaxed.owl molybdenum cofactor deficiency|obsolete molybdenum cofactor deficiency (disease) obsolete molybdenum cofactor deficiency (disease) MONDO:0020480 HP:0003570 True owl:Class MONDO:0023052 biolink:NamedThing obsolete ectrodactyly polydactyly tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0009156 True https://github.com/monarch-initiative/mondo/issues/2864 owl:Class MONDO:0000423 biolink:NamedThing obsolete coenzyme Q10 deficiency disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018151 True owl:Class MONDO:0003221 biolink:NamedThing obsolete sclerosing hemangioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006280 True owl:Class MONDO:0006750 biolink:NamedThing obsolete Erdheim-Chester disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018153 True owl:Class MONDO:0001958 biolink:NamedThing obsolete autosomal dominant cerebellar ataxia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020380 True owl:Class MONDO:0004097 biolink:NamedThing obsolete lipid-rich breast carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021090 True owl:Class MONDO:0000041 biolink:NamedThing obsolete hyperphosphatasia with mental retardation syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016596 True owl:Class MONDO:0004228 biolink:NamedThing obsolete hypogonadotropism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018555 True owl:Class MONDO:0008804 biolink:NamedThing obsolete anus, imperforate tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010530 True owl:Class MONDO:0011791 biolink:NamedThing obsolete deafness, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019588 True owl:Class GO:0072366 biolink:NamedThing obsolete regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by positive regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0017796 biolink:NamedThing obsolete ameloblastic carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006079 True owl:Class MONDO:0003552 biolink:NamedThing obsolete adenosquamous gallbladder carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006217 True owl:Class MONDO:0005421 biolink:NamedThing obsolete infantile hypertrophic pyloric stenosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001560 True owl:Class urn:swrl#w biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0006768 biolink:NamedThing obsolete gastric outlet obstruction Narrowing of the pyloric lumen caused either by hypertrophy of the surrounding muscles or tissue scarring due to a chronic peptic ulcer. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001561 True owl:Class MONDO:0002180 biolink:NamedThing obsolete gestational choriocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020550 True owl:Class MONDO:0006542 biolink:NamedThing obsolete epidermolysis bullosa acquisita A chronic autoimmune inflammatory disorder characterized by the formation of subepidermal blisters in the skin and the mucous membranes. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018747 True owl:Class MONDO:0017938 biolink:NamedThing obsolete X-linked cleft palate and ankyloglossia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010560 These two terms are duplicates. True https://github.com/monarch-initiative/mondo/issues/2015 owl:Class MONDO:0003101 biolink:NamedThing obsolete intraneural perineurioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015032 True owl:Class MONDO:0000084 biolink:NamedThing obsolete pigmented nodular adrenocortical disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015999 True owl:Class MONDO:0006448 biolink:NamedThing obsolete testicular teratoma (disease) tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0018193 True https://github.com/monarch-initiative/mondo/issues/3286 owl:Class MONDO:0000860 biolink:NamedThing obsolete neural tube defect tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018075 True owl:Class MONDO:0006099 biolink:NamedThing obsolete B-cell prolymphocytic leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019461 True owl:Class MONDO:0006057 biolink:NamedThing obsolete thymic lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000951 True owl:Class MONDO:0000932 biolink:NamedThing obsolete skin amelanotic melanoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005208 True owl:Class MONDO:0005924 biolink:NamedThing obsolete pneumocystosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019121 True owl:Class MONDO:0003179 biolink:NamedThing obsolete lacrimal gland adenoid cystic carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006262 True owl:Class MONDO:0000205 biolink:NamedThing obsolete radioulnar synostosis with amegakaryocytic thrombocytopenia tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0010372 biolink:NamedThing obsolete Clark-Baraitser syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0030914 These were merged in OMIM. True https://github.com/monarch-initiative/mondo/issues/2457 owl:Class IAO:0000700 biolink:NamedThing has ontology root term Ontology annotation property. Relates an ontology to a term that is a designated root term of the ontology. Display tools like OLS can use terms annotated with this property as the starting point for rendering the ontology class hierarchy. There can be more than one root. tmpaxzxjjyw_mondo_relaxed.owl has ontology root term Nicolas Matentzoglu owl:AnnotationProperty MONDO:0002964 biolink:NamedThing obsolete non-Langerhans-cell histiocytosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015531 True owl:Class MONDO:0017293 biolink:NamedThing obsolete small cell carcinoma of the bladder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004114 True owl:Class MONDO:0019539 biolink:NamedThing obsolete retinopathy of prematurity tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006952 True owl:Class MONDO:0003920 biolink:NamedThing obsolete gastric small cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006229 True owl:Class MONDO:0000436 biolink:NamedThing obsolete T-cell large granular lymphocyte leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019469 True owl:Class MONDO:0017911 biolink:NamedThing obsolete cleft lip/palate-ectodermal dysplasia syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009151 True owl:Class MONDO:0002210 biolink:NamedThing obsolete vulva squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024609 True owl:Class MONDO:0000361 biolink:NamedThing obsolete d-2-hydroxyglutaric aciduria tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010924 True owl:Class MONDO:0016084 biolink:NamedThing obsolete Crigler-Najjar syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009044 True owl:Class MONDO:0006454 biolink:NamedThing obsolete thymic squamous cell carcinoma A rare primary thymic carcinoma, characterized by the presence of keratinizing or non-keratinizing malignant squamous cells. Approximately 10-20% of cases occur in combination with thymoma. The prognosis depends on the tumor stage and the degree of cellular differentiation. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003493 True owl:Class MONDO:0000656 biolink:NamedThing obsolete alpha chain disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015045 True owl:Class MONDO:0000036 biolink:NamedThing obsolete hemolytic anemia, nonspherocytic tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0002992 biolink:NamedThing obsolete juvenile xanthogranuloma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015534 True owl:Class MONDO:0007069 biolink:NamedThing obsolete Adie syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018690 True owl:Class MONDO:0001796 biolink:NamedThing obsolete epidermodysplasia verruciformis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009176 True owl:Class MONDO:0000326 biolink:NamedThing obsolete lissencephaly tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018838 True owl:Class MONDO:0006299 biolink:NamedThing obsolete mediastinal neuroblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001095 True owl:Class MONDO:0002392 biolink:NamedThing obsolete lymphangiosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006282 True owl:Class MONDO:0020171 biolink:NamedThing obsolete palpebral tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002235 True owl:Class MONDO:0005935 biolink:NamedThing obsolete reactive arthritis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017376 True owl:Class IAO:0000120 biolink:NamedThing metadata complete Class has all its metadata, but is either not guaranteed to be in its final location in the asserted IS_A hierarchy or refers to another class that is not complete. tmpaxzxjjyw_mondo_relaxed.owl metadata complete IAO:0000078 MONDO:0000168 biolink:NamedThing obsolete mental retardation, X-linked, nonsyndromic tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019181 True owl:Class MONDO:0019070 biolink:NamedThing obsolete liposarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005060 True owl:Class MONDO:0006852 biolink:NamedThing obsolete meningococcal meningitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018059 True owl:Class MONDO:0000057 biolink:NamedThing obsolete medullary cystic kidney disease tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000562 biolink:NamedThing obsolete hypomyelinating leukoencephalopathy tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0020578 biolink:NamedThing obsolete vitamin D deficiency Abnormally low level of 25-hydroxyvitamin D in the blood. tmpaxzxjjyw_mondo_relaxed.owl vitamin D deficiency HP:0100512 True owl:Class MONDO:0003520 biolink:NamedThing obsolete malignant acrospiroma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024245 True owl:Class MONDO:0002213 biolink:NamedThing obsolete tularemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018077 True owl:Class MONDO:0005378 biolink:NamedThing obsolete neuromyelitis optica tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019100 True owl:Class MONDO:0017777 biolink:NamedThing obsolete rat-bite fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006941 True owl:Class MONDO:0006461 biolink:NamedThing obsolete thyroid gland carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015075 True owl:Class MONDO:0000059 biolink:NamedThing obsolete methylmalonic aciduria and homocystinuria tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016826 True owl:Class MONDO:0015973 biolink:NamedThing obsolete rare genetic coagulation disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021181 True owl:Class MONDO:0000039 biolink:NamedThing obsolete hypercalciuria, absorptive tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0003309 biolink:NamedThing obsolete pleural cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006294 True owl:Class GO:0072363 biolink:NamedThing obsolete regulation of glycolytic process by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0018427 biolink:NamedThing obsolete fibrolamellar carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006210 True owl:Class MONDO:0000091 biolink:NamedThing obsolete progressive familial heart block tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019490 True owl:Class MONDO:0010530 biolink:NamedThing obsolete anus, imperforate tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001046 True owl:Class OBO:ro.owl#x biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0006072 biolink:NamedThing obsolete adenoid cystic breast carcinoma An adenoid cystic carcinoma primarily involving the breast. Three morphologic patterns are seen: cribriform, trabecular, and solid. The prognosis is excellent. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003185 True owl:Class MONDO:0000905 biolink:NamedThing obsolete cortisone reductase deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000193 True owl:Class MONDO:0000206 biolink:NamedThing obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy tmpaxzxjjyw_mondo_relaxed.owl obsolete cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL True owl:Class MONDO:0000003 biolink:NamedThing obsolete 17-hydroxysteroid dehydrogenase deficiency tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0006511 biolink:NamedThing obsolete developmental dysplasia of the hip tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000158 True owl:Class GO:1900392 biolink:NamedThing obsolete regulation of transport by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in regulation of transport. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0005225 biolink:NamedThing obsolete acute myeloblastic leukemia with maturation tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020320 True owl:Class GO:0072362 biolink:NamedThing obsolete regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0000150 biolink:NamedThing obsolete spondylometaphyseal dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016763 True owl:Class MONDO:0000854 biolink:NamedThing obsolete Stickler syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019354 True owl:Class MONDO:0003949 biolink:NamedThing obsolete cervical adenoma malignum tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006140 True owl:Class MONDO:0002841 biolink:NamedThing obsolete eosinophilic gastroenteritis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016129 True owl:Class MONDO:0003230 biolink:NamedThing obsolete extraosseous Ewings sarcoma-primitive neuroepithelial tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021039 True owl:Class MONDO:0001278 biolink:NamedThing obsolete adult respiratory distress syndrome A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006502 True owl:Class GO:0072364 biolink:NamedThing obsolete regulation of cellular ketone metabolic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular ketone metabolic process by regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0005263 biolink:NamedThing obsolete unipolar depression tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0002009 True https://github.com/monarch-initiative/mondo/issues/2862 owl:Class MONDO:0017820 biolink:NamedThing obsolete obsolete disease with Cushing syndrome as a major feature A disease in which Cushing syndrome is a major feature. tmpaxzxjjyw_mondo_relaxed.owl rare disease with Cushing syndrome as a major feature MONDO:outOfScope This is a disease with a phenotype as a feature and is used as a grouping class but does not seem clinically relevant. The parent is wrong, this class is not a type of 'Cushing syndrome'. Orphanet:314749|UMLS:CN203791 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/1522 owl:Class MONDO:0019090 biolink:NamedThing obsolete meconium aspiration syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006851 True owl:Class GO:0044428 biolink:NamedThing obsolete nuclear part OBSOLETE. Any constituent part of the nucleus, a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. tmpaxzxjjyw_mondo_relaxed.owl nucleus component|nuclear subcomponent GO:0005634 True owl:Class MONDO:0003020 biolink:NamedThing obsolete orofaciodigital syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015375 True owl:Class MONDO:0001477 biolink:NamedThing obsolete aniridia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019172 True owl:Class MONDO:0004115 biolink:NamedThing obsolete gallbladder small cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006219 True owl:Class MONDO:0018522 biolink:NamedThing obsolete acinar cell carcinoma of pancreas tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006346 True owl:Class MONDO:0006910 biolink:NamedThing obsolete pituitary-dependent Cushing disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020528 Obsoleted as only pituitaries secrete ACTH hence this must be equivalent to ACTH-dependent CS True owl:Class GO:0044455 biolink:NamedThing obsolete mitochondrial membrane part OBSOLETE. Any constituent part of a mitochondrial membrane, either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. tmpaxzxjjyw_mondo_relaxed.owl GO:0031966 True owl:Class MONDO:0003498 biolink:NamedThing obsolete gallbladder squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006220 True owl:Class MONDO:0005472 biolink:NamedThing obsolete congenital heart malformation tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019512 True owl:Class MONDO:0018482 biolink:NamedThing obsolete squamous cell carcinoma of stomach tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006230 True owl:Class MONDO:0006129 biolink:NamedThing obsolete central nervous system lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002571 True owl:Class MONDO:0010234 biolink:NamedThing obsolete body length, mouse, human homolog tmpaxzxjjyw_mondo_relaxed.owl body length, mouse, HUMAN homolog True owl:Class IAO:0000421 biolink:NamedThing named class expression A named class expression is a logical expression that is given a name. The name can be used in place of the expression.|A named class expression is a logical expression that is given a name. The name can be used in place of the expression. tmpaxzxjjyw_mondo_relaxed.owl named class expressions are used in order to have more concise logical definition but their extensions may not be interesting classes on their own. In languages such as OWL, with no provisions for macros, these show up as actuall classes. Tools may with to not show them as such, and to replace uses of the macros with their expansions|named class expressions are used in order to have more concise logical definition but their extensions may not be interesting classes on their own. In languages such as OWL, with no provisions for macros, these show up as actuall classes. Tools may with to not show them as such, and to replace uses of the macros with their expansions named class expression Alan Ruttenberg|Alan Ruttenberg IAO:0000409 MONDO:0022605 biolink:NamedThing obsolete brachymetapody anodontia hypotrichosis albinoidism tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0008884 True https://github.com/monarch-initiative/mondo/issues/3687 owl:Class MONDO:0014721 biolink:NamedThing obsolete hereditary spherocytosis type 2 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000913 True owl:Class MONDO:0008413 biolink:NamedThing obsolete schizophrenia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005090 True owl:Class MONDO:0005360 biolink:NamedThing obsolete Dupuytren contracture tmpaxzxjjyw_mondo_relaxed.owl obsolete Dupuytren contracture (disease) obsolete Dupuytren contracture (disease) MONDO:0006345 True owl:Class MONDO:0017751 biolink:NamedThing obsolete Reye syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005942 True owl:Class MONDO:0000048 biolink:NamedThing obsolete immunoglobulin A deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001341 True owl:Class MONDO:0004908 biolink:NamedThing obsolete galactosemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018116 True owl:Class GO:0097756 biolink:NamedThing obsolete negative regulation of blood vessel diameter OBSOLETE. Any process that decreases the diameter of blood vessels. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of vasodilation True owl:Class MONDO:0006242 biolink:NamedThing obsolete hepatoblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018666 True owl:Class MONDO:0015154 biolink:NamedThing obsolete rickettsial disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006956 True owl:Class MONDO:0020150 biolink:NamedThing obsolete obsolete rare palpebral, lacrimal system and conjunctival disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:outOfScope Obsolete in Orphanet Orphanet:98559|UMLS:CN207025 True https://github.com/monarch-initiative/mondo/issues/2662|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0006148 biolink:NamedThing obsolete chronic neutrophilic leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019451 True owl:Class MONDO:0001486 biolink:NamedThing obsolete Vogt-Koyanagi-Harada disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018092 True owl:Class MONDO:0001581 biolink:NamedThing obsolete tolosa-hunt syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018983 True owl:Class MONDO:0007419 biolink:NamedThing obsolete Darwinian tubercle of pinna tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007418 True owl:Class MONDO:0000300 biolink:NamedThing obsolete tungiasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019498 True owl:Class MONDO:0004740 biolink:NamedThing obsolete hyperlysinemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009388 True owl:Class MONDO:0000392 biolink:NamedThing obsolete fetal alcohol syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016011 True owl:Class MONDO:0000349 biolink:NamedThing obsolete Charcot-Marie-Tooth disease type 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019011 True owl:Class MONDO:0000124 biolink:NamedThing obsolete focal facial dermal dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018363 True owl:Class MONDO:0019966 biolink:NamedThing obsolete thoracic outlet syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005979 True owl:Class MONDO:0004282 biolink:NamedThing obsolete eccrine porocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006189 True owl:Class MONDO:0019863 biolink:NamedThing obsolete acro-renal-ocular syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011812 These terms are equivalent. True https://github.com/monarch-initiative/mondo/issues/1201 owl:Class MONDO:0000401 biolink:NamedThing obsolete congenital bile acid synthesis defect tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018841 True owl:Class MONDO:0004704 biolink:NamedThing obsolete peroxisomal disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019053 True owl:Class IAO:0000114 biolink:NamedThing has curation status tmpaxzxjjyw_mondo_relaxed.owl has curation status PERSON:Alan Ruttenberg|PERSON:Melanie Courtot|PERSON:Bill Bug owl:AnnotationProperty MONDO:0000149 biolink:NamedThing obsolete retinopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005283 True owl:Class MONDO:0000318 biolink:NamedThing obsolete wound botulism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015803 True owl:Class MONDO:0010845 biolink:NamedThing obsolete macrothrombocytopenia and progressive sensorineural deafness tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007954 True owl:Class MONDO:0000472 biolink:NamedThing obsolete rheumatic heart disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006955 True owl:Class GO:0044441 biolink:NamedThing obsolete ciliary part OBSOLETE. Any constituent part of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. tmpaxzxjjyw_mondo_relaxed.owl cilial part|microtubule-based flagellum part|flagellum part|flagellar part|flagellum component|cilium part GO:0005929 True owl:Class MONDO:0005444 biolink:NamedThing obsolete leishmaniasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011989 True owl:Class MONDO:0005024 biolink:NamedThing obsolete emphysema tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004849 True owl:Class MONDO:0011324 biolink:NamedThing obsolete hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008885 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1699 owl:Class MONDO:0010766 biolink:NamedThing obsolete 46,XX sex reversal 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100250 Split this term - created a new grouping class that is equivalent to the Orphanet class (Orphanet:393) and created a new class for this term, equivalent to the OMIM term (OMIM:400045). True owl:Class MONDO:0000835 biolink:NamedThing obsolete ischemic bone disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005380 True owl:Class MONDO:0003229 biolink:NamedThing obsolete lymphedema tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019297 True owl:Class MONDO:0018863 biolink:NamedThing obsolete leptospirosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005825 True owl:Class MONDO:0018568 biolink:NamedThing obsolete COG2-CDG tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0054559 True https://github.com/monarch-initiative/mondo/issues/2923 owl:Class MONDO:0013804 biolink:NamedThing obsolete intellectual disability, autosomal dominant 12 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007617 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1709 owl:Class MONDO:0015693 biolink:NamedThing obsolete composite lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005710 True owl:Class MONDO:0002560 biolink:NamedThing obsolete junctional epidermolysis bullosa tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017612 True owl:Class MONDO:0004179 biolink:NamedThing obsolete astroblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016707 True owl:Class MONDO:0004683 biolink:NamedThing obsolete Evans' syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016030 True owl:Class MONDO:0014463 biolink:NamedThing obsolete microcephaly, short stature, and impaired glucose metabolism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000208 True owl:Class MONDO:0015563 biolink:NamedThing obsolete blue cone monochromatism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010563 True owl:Class MONDO:0004825 biolink:NamedThing obsolete encephalitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019956 True owl:Class MONDO:0014279 biolink:NamedThing obsolete arrhythmogenic right ventricular dysplasia, familial, 13 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000908 True owl:Class MONDO:0002818 biolink:NamedThing obsolete adrenal cortical adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006639 True owl:Class MONDO:0018466 biolink:NamedThing obsolete hereditary late onset Parkinson disease tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0008199 These two terms are equivalent: 'late-onset Parkinson disease' is a child of the OMIM phenotypic series 'Parkinson disease', which is an inherited form of the disease, so the class 'late-onset Parkinson disease' inherits the hereditary form. True https://github.com/monarch-initiative/mondo/issues/3776 owl:Class MONDO:0005721 biolink:NamedThing obsolete coxsackievirus infectious disease tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0000241 True https://github.com/monarch-initiative/mondo/issues/3205 owl:Class MONDO:0000020 biolink:NamedThing obsolete elliptocytosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017319 True owl:Class MONDO:0004002 biolink:NamedThing obsolete pancreatoblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019035 True owl:Class MONDO:0005343 biolink:NamedThing obsolete viral human hepatitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006011 True owl:Class MONDO:0016261 biolink:NamedThing obsolete sarcoma of the corpus uteri tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005210 True owl:Class GO:0009108 biolink:NamedThing obsolete coenzyme biosynthetic process OBSOLETE. The chemical reactions and pathways resulting in the formation of coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed. tmpaxzxjjyw_mondo_relaxed.owl coenzyme synthesis|coenzyme anabolism|coenzyme and prosthetic group biosynthetic process|coenzyme formation|coenzyme and prosthetic group biosynthesis|coenzyme biosynthesis True owl:Class GO:2001273 biolink:NamedThing obsolete regulation of glucose import in response to insulin stimulus OBSOLETE. Any process that modulates the frequency, rate or extent of glucose import in response to insulin stimulus. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular glucose import in response to insulin stimulus True owl:Class MONDO:0018441 biolink:NamedThing obsolete hepatitis delta tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005789 True owl:Class MONDO:0008112 biolink:NamedThing obsolete Goldenhar syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015397 Obsoleted in Orphanet. True https://github.com/monarch-initiative/mondo/issues/2358 owl:Class IAO:0000124 biolink:NamedThing uncurated Nothing done yet beyond assigning a unique class ID and proposing a preferred term. tmpaxzxjjyw_mondo_relaxed.owl uncurated owl:NamedIndividual MONDO:0010724 biolink:NamedThing obsolete RP6 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000910 True owl:Class MONDO:0018862 biolink:NamedThing obsolete cat-scratch disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005692 True owl:Class MONDO:0008805 biolink:NamedThing obsolete Takayasu's arteritis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017991 True owl:Class GO:0044448 biolink:NamedThing obsolete cell cortex part OBSOLETE. Any constituent part of the cell cortex, the region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. tmpaxzxjjyw_mondo_relaxed.owl GO:0005938 True owl:Class MONDO:0018519 biolink:NamedThing obsolete squamous cell carcinoma of the anal canal tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004132 True owl:Class MONDO:0019055 biolink:NamedThing obsolete mitochondrial disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004069 True owl:Class MONDO:0016288 biolink:NamedThing obsolete glassy cell carcinoma of the cervix uteri tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004542 True owl:Class MONDO:0023616 biolink:NamedThing obsolete familial leiomyomatosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007888 Term was retired in GARD. True https://github.com/monarch-initiative/mondo/issues/1723 owl:Class MONDO:0002980 biolink:NamedThing obsolete myofibroma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006312 True owl:Class MONDO:0002417 biolink:NamedThing obsolete ethmoid sinus adenoid cystic carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006201 True owl:Class MONDO:0000026 biolink:NamedThing obsolete Fanconi renotubular syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001083 True owl:Class MONDO:0004470 biolink:NamedThing obsolete osteochondrosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018381 True owl:Class MONDO:0000122 biolink:NamedThing obsolete facial paresis, hereditary congenital tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011090 True owl:Class MONDO:0000906 biolink:NamedThing obsolete Alzheimer disease 5 tmpaxzxjjyw_mondo_relaxed.owl obsolete Alzheimer's disease 5 MONDO:0011194 True owl:Class OIO:hasSynonym biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000808 biolink:NamedThing obsolete hepatoid adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006243 True owl:Class MONDO:0005014 biolink:NamedThing obsolete dermatomyositis Inflammation of the skin and muscle. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016367 True owl:Class MONDO:0006472 biolink:NamedThing obsolete tracheal carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003184 True owl:Class MONDO:0001738 biolink:NamedThing obsolete osteopetrosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017198 True owl:Class MONDO:0005107 biolink:NamedThing obsolete hepatocellular adenoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018902 True owl:Class MONDO:0018140 biolink:NamedThing obsolete burning mouth syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006687 True owl:Class MONDO:0000027 biolink:NamedThing obsolete epilepsy, absence tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0020570 biolink:NamedThing obsolete Brill-Zinsser disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005680 True owl:Class MONDO:0014852 biolink:NamedThing obsolete palmoplantar carcinoma, multiple self-healing tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014089 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1711 owl:Class MONDO:0000442 biolink:NamedThing obsolete paramyloidosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007100 True owl:Class MONDO:0006415 biolink:NamedThing obsolete small intestinal adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003198 True owl:Class MONDO:0018691 biolink:NamedThing obsolete endometrioid carcinoma of ovary tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006335 True owl:Class MONDO:0003132 biolink:NamedThing obsolete rapidly progressive glomerulonephritis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017236 True owl:Class MONDO:0009023 biolink:NamedThing obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000902 True owl:Class MONDO:0005727 biolink:NamedThing obsolete cystoisosporiasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018769 True owl:Class MONDO:0010291 biolink:NamedThing obsolete androgen insensitivity syndrome due to coactivator deficiency tmpaxzxjjyw_mondo_relaxed.owl androgen insensitivity syndrome due to coactivator deficiency MONDO:0019154 True owl:Class may_be_merged_into biolink:NamedThing may_be_merged_into tmpaxzxjjyw_mondo_relaxed.owl True owl:AnnotationProperty MONDO:0004018 biolink:NamedThing obsolete liver carcinoma A carcinoma that involves the liver. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007256 True owl:Class MONDO:0002126 biolink:NamedThing obsolete childhood absence epilepsy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010826 True owl:Class MONDO:0010240 biolink:NamedThing obsolete androgen insensitivity syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019154 True owl:Class OBO:mondo#excluded_subClassOf biolink:NamedThing excluded subClassOf tmpaxzxjjyw_mondo_relaxed.owl True owl:AnnotationProperty MONDO:0018917 biolink:NamedThing obsolete Marfan syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007947 True owl:Class MONDO:0005403 biolink:NamedThing obsolete neonatal systemic lupus erthematosus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018360 True owl:Class GO:0098679 biolink:NamedThing obsolete regulation of carbohydrate catabolic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. A regulation of transcription from RNA polymerase II promoter that results in regulation of carbohydrate catabloism. tmpaxzxjjyw_mondo_relaxed.owl regulation of carbohydrate catabolism by regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0100143 biolink:NamedThing obsolete critical COVID-19 infection A COVID-19 infection that involves respiratory failure, septic shock, and/or multiple organ dysfunction. tmpaxzxjjyw_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0002302 biolink:NamedThing obsolete acromegaly tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019933 True owl:Class MONDO:0002384 biolink:NamedThing obsolete transitional cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006474 True owl:Class MONDO:0000347 biolink:NamedThing obsolete adult T-cell leukemia/lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019471 True owl:Class GO:2001274 biolink:NamedThing obsolete negative regulation of glucose import in response to insulin stimulus OBSOLETE. Any process that stops, prevents or reduces the frequency, rate or extent of glucose import in response to insulin stimulus. tmpaxzxjjyw_mondo_relaxed.owl negative regulation of cellular glucose import in response to insulin stimulus True owl:Class MONDO:0009739 biolink:NamedThing obsolete infantile neuroaxonal dystrophy tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0024457 True https://github.com/monarch-initiative/mondo/issues/204 owl:Class MONDO:0002339 biolink:NamedThing obsolete hemangioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006500 True owl:Class GO:0100051 biolink:NamedThing obsolete positive regulation of meiotic nuclear division by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates meiotic nuclear division. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0013850 biolink:NamedThing obsolete periodic fever, menstrual cycle-dependent tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044660 This term was a duplicate. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0005633 biolink:NamedThing obsolete acute disseminated encephalomyelitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019383 True owl:Class MONDO:0016926 biolink:NamedThing obsolete Geleophysic dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000127 True owl:Class MONDO:0013816 biolink:NamedThing obsolete palmoplantar keratoderma, mutilating, with periorificial keratotic plaques tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019014 There appeared to be duplicate terms from Orphanet and OMIM, which should be combined into one class. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0000691 biolink:NamedThing obsolete pain disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021668 True owl:Class MONDO:0000526 biolink:NamedThing obsolete appendix carcinoid tumor A carcinoid tumor (disease) that involves the vermiform appendix. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006091 True owl:Class MONDO:0002986 biolink:NamedThing obsolete neuromuscular disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019056 True owl:Class MONDO:0006914 biolink:NamedThing obsolete POEMS syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017364 True owl:Class MONDO:0018859 biolink:NamedThing obsolete Leigh disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009723 True owl:Class MONDO:0006775 biolink:NamedThing obsolete haemophilus influenzae meningitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000889 True owl:Class MONDO:0004362 biolink:NamedThing obsolete placenta disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005917 True owl:Class MONDO:0009640 biolink:NamedThing obsolete mitochondrial complex I deficiency, nuclear type tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100223 Split this into a new term, this term had both a OMIMPS and OMIM class as equivalent. True https://github.com/monarch-initiative/mondo/issues/2277 owl:Class MONDO:0000506 biolink:NamedThing obsolete Caroli disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010913 True owl:Class MONDO:0000267 biolink:NamedThing obsolete cryptogenic organizing pneumonia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015264 True owl:Class MONDO:0015865 biolink:NamedThing obsolete benign tumor of fallopian tubes tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000645 True owl:Class MONDO:0000095 biolink:NamedThing obsolete split-hand/foot malformation tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016576 True owl:Class MONDO:0000139 biolink:NamedThing obsolete microcephalic primordial dwarfism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017950 True owl:Class MONDO:0004515 biolink:NamedThing obsolete olfactory neural tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002722 True owl:Class MONDO:0000012 biolink:NamedThing obsolete choreoathetosis tmpaxzxjjyw_mondo_relaxed.owl obsolete choreoathetosis (disease) obsolete choreoathetosis (disease) True owl:Class MONDO:0001619 biolink:NamedThing obsolete relapsing fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019633 True owl:Class MONDO:0014655 biolink:NamedThing obsolete Bethlem myopathy 2 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0034022 duplicate True https://github.com/monarch-initiative/mondo/issues/2461 owl:Class MONDO:0006449 biolink:NamedThing obsolete testicular yolk sac tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003402 True owl:Class GO:0072368 biolink:NamedThing obsolete regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter True owl:Class MONDO:0007815 biolink:NamedThing obsolete immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0007818 True https://github.com/monarch-initiative/mondo/issues/3804 owl:Class MONDO:0006083 biolink:NamedThing obsolete anaplastic large cell lymphoma, ALK-negative tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017603 True owl:Class MONDO:0000143 biolink:NamedThing obsolete multiple mitochondrial dysfunctions syndrome tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0002774 biolink:NamedThing obsolete chordoid glioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016706 True owl:Class MONDO:0013958 biolink:NamedThing obsolete monocyte and dendritic cell deficiency, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009194 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1710 owl:Class MONDO:0003048 biolink:NamedThing obsolete type C thymoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006451 True owl:Class GO:0072365 biolink:NamedThing obsolete regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of a cellular ketone metabolic process by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|regulation of cellular ketone metabolism by negative regulation of transcription from an RNA polymerase II promoter True owl:Class GO:1900413 biolink:NamedThing obsolete positive regulation of phospholipid biosynthetic process by positive regulation of transcription from RNA polymerase II promoter OBSOLETE. A positive regulation of transcription from RNA polymerase II promoter that results in positive regulation of phospholipid biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of phospholipid biosynthesis by positive regulation of transcription from RNA polymerase II promoter|positive regulation of phospholipid synthesis by positive regulation of transcription from RNA polymerase II promoter True owl:Class MONDO:0002784 biolink:NamedThing obsolete craniopharyngioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006175 True owl:Class MONDO:0006867 biolink:NamedThing obsolete neovascular glaucoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019783 True owl:Class MONDO:0018622 biolink:NamedThing obsolete nut midline carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005563 True owl:Class MONDO:0021725 biolink:NamedThing obsolete Abderhalden-Kaufmann-Lignac syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100151 True owl:Class MONDO:0020255 biolink:NamedThing obsolete oculomotor palsy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001309 True owl:Class MONDO:0003449 biolink:NamedThing obsolete syringocystadenoma papilliferum tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006439 True owl:Class MONDO:0000178 biolink:NamedThing obsolete breasts and/or nipples, aplasia or hypoplasia of tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000830 biolink:NamedThing obsolete Waldenstroem's macroglobulinemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007926 True owl:Class MONDO:0024597 biolink:NamedThing obsolete CD3epsilon deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014278 True owl:Class MONDO:0002521 biolink:NamedThing obsolete multiple symmetrical lipomatosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007908 True owl:Class GO:0044463 biolink:NamedThing obsolete cell projection part OBSOLETE. Any constituent part of a cell projection, a prolongation or process extending from a cell, e.g. a flagellum or axon. tmpaxzxjjyw_mondo_relaxed.owl GO:0042995 True owl:Class MONDO:0020536 biolink:NamedThing obsolete pigeon-breeder lung disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005668 This term is too granulalr and was merged with bird fancier's lung. True https://github.com/monarch-initiative/mondo/issues/385 owl:Class IAO:0000601 biolink:NamedThing has associated axiom(nl) tmpaxzxjjyw_mondo_relaxed.owl Person:Alan Ruttenberg has associated axiom(nl) An axiom associated with a term expressed using natural language Person:Alan Ruttenberg owl:AnnotationProperty OIO:creation_date biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0003883 biolink:NamedThing obsolete cerebellar liponeurocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016728 True owl:Class MONDO:0003485 biolink:NamedThing obsolete colon squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018513 True owl:Class MONDO:0001570 biolink:NamedThing obsolete locked-in syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016567 True owl:Class MONDO:0005666 biolink:NamedThing obsolete berylliosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015274 True owl:Class IAO:0000599 biolink:NamedThing has ID prefix Relates an ontology used to record id policy to a prefix concatenated with an integer in the id range (left padded with "0"s to make this many digits) to construct an ID for a term being created. tmpaxzxjjyw_mondo_relaxed.owl has ID prefix Ontology: Annotations: 'has ID prefix': "http://purl.obolibrary.org/obo/RO_" 'has ID digit count' : 7, rdfs:label "RO id policy" 'has ID policy for': "RO" Person:Alan Ruttenberg owl:AnnotationProperty IAO:0000103 biolink:NamedThing failed exploratory term The term was used in an attempt to structure part of the ontology but in retrospect failed to do a good job tmpaxzxjjyw_mondo_relaxed.owl failed exploratory term Person:Alan Ruttenberg|Person:Alan Ruttenberg owl:NamedIndividual MONDO:0020330 biolink:NamedThing obsolete classic Hodgkin lymphoma, lymphocyte-depleted type tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0004620 True https://github.com/monarch-initiative/mondo/issues/2981 owl:Class MONDO:0020328 biolink:NamedThing obsolete classic Hodgkin lymphoma, mixed cellularity type tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0004633 True https://github.com/monarch-initiative/mondo/issues/3000 owl:Class MONDO:0001432 biolink:NamedThing obsolete sodoku disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020532 True owl:Class MONDO:0005573 biolink:NamedThing obsolete type II hypersensitivity reaction disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007179 True owl:Class MONDO:0002711 biolink:NamedThing obsolete angiolipoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006085 True owl:Class MONDO:0015444 biolink:NamedThing obsolete cleidocranial dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007340 True owl:Class MONDO:0023141 biolink:NamedThing obsolete antihypertensive drugs antenatal exposure syndrome tmpaxzxjjyw_mondo_relaxed.owl fetal antihypertensive drugs syndrome|antihypertensive drugs antenatal exposure https://github.com/monarch-initiative/mondo/issues/141 GARD:0000733 This term was found in the globalgenes.org rare disease list, but no information could be found about it. True owl:Class MONDO:0000201 biolink:NamedThing obsolete thyroid cancer, nonmedullary tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017896 True owl:Class MONDO:0007117 biolink:NamedThing obsolete angioedema, hereditary, type 1/2 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0033946 True https://github.com/monarch-initiative/mondo/issues/1628 owl:Class MONDO:0000194 biolink:NamedThing obsolete Otofaciocervical syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008163 True owl:Class MONDO:0006399 biolink:NamedThing obsolete rhabdoid tumor of the kidney tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002729 True owl:Class MONDO:0015156 biolink:NamedThing obsolete typhus-group rickettsiosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001246 True owl:Class MONDO:0003496 biolink:NamedThing obsolete endometrial squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006198 True owl:Class GO:0097458 biolink:NamedThing obsolete neuron part OBSOLETE. Any constituent part of a neuron, the basic cellular unit of nervous tissue. A typical neuron consists of a cell body (often called the soma), an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. tmpaxzxjjyw_mondo_relaxed.owl CL:0000540 True owl:Class MONDO:0003642 biolink:NamedThing obsolete oral submucous fibrosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018166 True owl:Class MONDO:0019051 biolink:NamedThing obsolete lysosomal disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002561 True owl:Class MONDO:0022918 biolink:NamedThing obsolete cytokine deficiency A disease that has its basis in the disruption of cytokine activity. tmpaxzxjjyw_mondo_relaxed.owl cytokine activity disease|disorder of cytokine activity GARD:0009529 No children, was added to mirror existing term, there is no info in GARD and GARD plans to obsolete this term. HP:0011112 True https://github.com/monarch-initiative/mondo/issues/1576 owl:Class MONDO:0003662 biolink:NamedThing obsolete endometrioid ovary carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006335 True owl:Class MONDO:0006991 biolink:NamedThing obsolete sympathetic ophthalmia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019198 True owl:Class MONDO:0006473 biolink:NamedThing obsolete tracheal squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001419 True owl:Class MONDO:0000217 biolink:NamedThing obsolete Frontometaphyseal dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010593 True owl:Class GO:0100017 biolink:NamedThing obsolete negative regulation of cell-cell adhesion by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that negatively regulates single organismal cell-cell adhesion. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0001311 biolink:NamedThing obsolete Chandler syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020369 True owl:Class MONDO:0000356 biolink:NamedThing obsolete Walker-Warburg syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019523 True owl:Class MONDO:0005222 biolink:NamedThing obsolete acute megakaryoblastic leukaemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004655 True owl:Class MONDO:0005733 biolink:NamedThing obsolete dirofilariasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015636 True owl:Class MONDO:0006628 biolink:NamedThing obsolete Sezary disease tmpaxzxjjyw_mondo_relaxed.owl obsolete Sezary's disease MONDO:0017844 True owl:Class MONDO:0005329 biolink:NamedThing obsolete vascular sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016982 True owl:Class MONDO:0000120 biolink:NamedThing obsolete ectopia lentis, isolated tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015998 True owl:Class GO:0072367 biolink:NamedThing obsolete regulation of lipid transport by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of lipid transport by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl regulation of lipid transport by regulation of transcription from an RNA polymerase II promoter True owl:Class rdfs:label biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0005317 biolink:NamedThing obsolete fatty liver tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004790 True owl:Class ENVO:00002297 biolink:NamedThing obsolete environmental feature OBSOLETE A material entity which determines an environmental system. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0003149 biolink:NamedThing obsolete aggressive systemic mastocytosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020333 True owl:Class MONDO:0000882 biolink:NamedThing obsolete myeloid and lymphoid neoplasms associated with PDGFRA rearrangement tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0015689 True https://github.com/monarch-initiative/mondo/issues/3845 owl:Class MONDO:0016720 biolink:NamedThing obsolete atypical papilloma of choroid plexus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002684 True owl:Class MONDO:0002902 biolink:NamedThing obsolete pseudohypoparathyroidism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019992 True owl:Class MONDO:0000537 biolink:NamedThing obsolete gastrointestinal carcinoma tmpaxzxjjyw_mondo_relaxed.owl obsolete gastrointestinal carcinoma (disease) obsolete gastrointestinal carcinoma (disease) MONDO:0006181 True owl:Class MONDO:0022940 biolink:NamedThing obsolete deafness hyperuricemia neurologic ataxia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022939 True owl:Class MONDO:0002157 biolink:NamedThing obsolete fallopian tube carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006206 True owl:Class MONDO:0018057 biolink:NamedThing obsolete toxocariasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005988 True owl:Class MONDO:0004921 biolink:NamedThing obsolete Omsk hemorrhagic fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017882 True owl:Class MONDO:0005022 biolink:NamedThing obsolete ductal breast adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005590 True owl:Class MONDO:0006587 biolink:NamedThing obsolete nodular nonsuppurative panniculitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018063 True owl:Class MONDO:0007065 biolink:NamedThing obsolete adenosine deaminase, elevated, hemolytic anemia due to tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020458 True owl:Class MONDO:0000609 biolink:NamedThing obsolete sideroblastic anemia with spinocerebellar ataxia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010524 True owl:Class MONDO:0000522 biolink:NamedThing obsolete inflammatory myofibroblastic tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015798 True owl:Class MONDO:0002725 biolink:NamedThing obsolete diffuse cutaneous mastocytosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019315 True owl:Class MONDO:0020299 biolink:NamedThing obsolete spinocerebellar ataxia type 15/16 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011694 True owl:Class MONDO:0006492 biolink:NamedThing obsolete vulvar squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002210 True owl:Class MONDO:0001248 biolink:NamedThing obsolete rabies tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019173 True owl:Class MONDO:0002390 biolink:NamedThing obsolete ossifying fibromyxoid tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006330 True owl:Class MONDO:0003063 biolink:NamedThing obsolete hydranencephaly tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016344 True owl:Class MONDO:0000445 biolink:NamedThing obsolete neuroacanthocytosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016987 True owl:Class MONDO:0003526 biolink:NamedThing obsolete lung giant cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006275 True owl:Class MONDO:0005869 biolink:NamedThing obsolete myiasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019147 True owl:Class urn:swrl#mf2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0004342 biolink:NamedThing obsolete osteoclast-like giant cell neoplasm of the pancreas tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006479 True owl:Class MONDO:0000855 biolink:NamedThing obsolete acromesomelic dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019696 True owl:Class MONDO:0000869 biolink:NamedThing obsolete congenital fibrosis of the extraocular muscles tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007614 True owl:Class MONDO:0000810 biolink:NamedThing obsolete DMD-related dilated cardiomyopathy A dilated cardiomyopathy that has material basis in mutations in the DMD gene. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010542 True owl:Class MONDO:0001448 biolink:NamedThing obsolete alveolar echinococcosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017282 True owl:Class MONDO:0035369 biolink:NamedThing obsolete MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0032705 True https://github.com/monarch-initiative/mondo/issues/3542 owl:Class MONDO:0002591 biolink:NamedThing obsolete dendritic cell thymoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016974 True owl:Class MONDO:0012647 biolink:NamedThing obsolete generalized epilepsy with febrile seizures plus, type 3 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011891 True owl:Class MONDO:0044716 biolink:NamedThing obsolete STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0030912 True owl:Class MONDO:0000053 biolink:NamedThing obsolete macroglobulinemia, Waldenstrom tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0006333 biolink:NamedThing obsolete ovarian dysgerminoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003481 True owl:Class MONDO:0006675 biolink:NamedThing obsolete benign monoclonal gammopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004225 True owl:Class MONDO:0004850 biolink:NamedThing obsolete yellow fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020502 True owl:Class MONDO:0005423 biolink:NamedThing obsolete pelvic organ prolapse tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000082 True owl:Class MONDO:0004581 biolink:NamedThing obsolete localized scleroderma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019562 True owl:Class MONDO:0000180 biolink:NamedThing obsolete inflammatory skin and bowel disease, neonatal tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017411 True owl:Class MONDO:0000760 biolink:NamedThing obsolete acrofacial dysostosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018237 True owl:Class MONDO:0000818 biolink:NamedThing obsolete lethal congenital contracture syndrome 4 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013965 True owl:Class MONDO:0001840 biolink:NamedThing obsolete schistosomiasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015254 True owl:Class MONDO:0004027 biolink:NamedThing obsolete embryonal cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005564 True owl:Class MONDO:0001043 biolink:NamedThing obsolete diaphragm disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005728 True owl:Class FOODON:03400004 biolink:NamedThing obsolete: product type, other tmpaxzxjjyw_mondo_relaxed.owl http://purl.obolibrary.org/obo/FOODON_00001002 http://www.langual.org/langual_thesaurus.asp?termid=A0004 LanguaL curation note: Used only if the product does not fall under any of the major product types listed. [FDA CFSAN 1995] True http://langual.org owl:Class MONDO:0003242 biolink:NamedThing obsolete fibrolamellar carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006210 True owl:Class MONDO:0002080 biolink:NamedThing obsolete congenital ichthyosiform erythroderma tmpaxzxjjyw_mondo_relaxed.owl obsolete congenital ichthyosiform erythroderma (disease) obsolete congenital ichthyosiform erythroderma (disease) MONDO:0019306 True owl:Class MONDO:0002148 biolink:NamedThing obsolete sphingolipidosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019255 True owl:Class MONDO:0022406 biolink:NamedThing obsolete aksu von stockhausen syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021836 True owl:Class MONDO:0006016 biolink:NamedThing obsolete West Nile encephalitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019376 True owl:Class MONDO:0016538 biolink:NamedThing obsolete hypotonia-cystinuria syndrome type 1 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0011669 True https://github.com/monarch-initiative/mondo/issues/3782 owl:Class MONDO:0019057 biolink:NamedThing obsolete rare constitutional aplastic anemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001713 True owl:Class MONDO:0020166 biolink:NamedThing obsolete telecanthus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008537 True owl:Class MONDO:0005553 biolink:NamedThing obsolete parathyroid disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001223 True owl:Class MONDO:0003919 biolink:NamedThing obsolete inherited metabolic disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019052 True owl:Class MONDO:0016895 biolink:NamedThing obsolete partial monosomy of the short arm of chromosome 17 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0022754 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class MONDO:0005521 biolink:NamedThing obsolete shigellosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019345 True owl:Class MONDO:0021909 biolink:NamedThing obsolete aplasia cutis congenita recessive tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/141 MONDO:0007145 True owl:Class urn:swrl#g1 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0000907 biolink:NamedThing obsolete amelogenesis imperfecta type 1C tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008770 True owl:Class http://attempto.ifi.uzh.ch/ace_lexicon#TV_sg biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0020309 biolink:NamedThing obsolete Landau-Kleffner syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009509 True owl:Class MONDO:0000730 biolink:NamedThing obsolete pontocerebellar hypoplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020135 True owl:Class MONDO:0006457 biolink:NamedThing obsolete thymoma type AB tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016975 True owl:Class MONDO:0019492 biolink:NamedThing obsolete desmoid tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007608 True owl:Class MONDO:0000731 biolink:NamedThing obsolete peeling skin syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019347 True owl:Class MONDO:0005450 biolink:NamedThing obsolete autoimmune disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007179 True owl:Class MONDO:0044790 biolink:NamedThing obsolete congenital melanocytic nevus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044792 Obsoleted as was conflated with spitz nevus True owl:Class MONDO:0008539 biolink:NamedThing obsolete distal arthrogryposis type 10 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016675 True owl:Class MONDO:0000061 biolink:NamedThing obsolete microcephaly, primary, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016660 True owl:Class MONDO:0002456 biolink:NamedThing obsolete cervix carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005131 True owl:Class GO:0002818 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0002208 biolink:NamedThing obsolete vulva adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024336 True owl:Class MONDO:0018584 biolink:NamedThing obsolete placental insufficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005919 True owl:Class MONDO:0021247 biolink:NamedThing obsolete renal pelvis neoplasm tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000195 biolink:NamedThing obsolete atrial standstill tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015281 True owl:Class MONDO:0000135 biolink:NamedThing obsolete Kenny-Caffey syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016516 True owl:Class MONDO:0007026 biolink:NamedThing obsolete non-alcoholic fatty liver tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013209 True owl:Class MONDO:0003511 biolink:NamedThing obsolete testicular germ cell cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010108 True owl:Class MONDO:0001070 biolink:NamedThing obsolete adrenoleukodystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018544 True owl:Class MONDO:0003267 biolink:NamedThing obsolete myxopapillary ependymoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016699 True owl:Class MONDO:0005703 biolink:NamedThing obsolete Churg-Strauss syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015943 True owl:Class MONDO:0005305 biolink:NamedThing obsolete epistaxis tmpaxzxjjyw_mondo_relaxed.owl HP:0000421 True https://github.com/monarch-initiative/mondo/issues/924 owl:Class MONDO:0021937 biolink:NamedThing obsolete Asrar Facharzt Haque syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011273 True owl:Class MONDO:0018074 biolink:NamedThing obsolete American trypanosomiasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001444 True owl:Class MONDO:0015105 biolink:NamedThing obsolete African tick typhus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024472 True owl:Class MONDO:0000013 biolink:NamedThing obsolete choroidal dystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008982 True owl:Class MONDO:0008784 biolink:NamedThing obsolete autoimmune hemolytic anemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020108 True owl:Class MONDO:0002895 biolink:NamedThing obsolete dentinogenesis imperfecta tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018849 True owl:Class MONDO:0034122 biolink:NamedThing obsolete NAD(P)HX epimerase deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014960 True owl:Class MONDO:0016465 biolink:NamedThing obsolete multiple intestinal atresia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009465 True owl:Class MONDO:0044226 biolink:NamedThing obsolete defective interfering particle induction, control of tmpaxzxjjyw_mondo_relaxed.owl Dipi, control of|homologous viral interference|defective interfering particle induction, control OF|vesicular stomatitis Virus defective interfering particle repressor HGNC:12678 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0006259 biolink:NamedThing obsolete juvenile xanthogranuloma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015534 True owl:Class MONDO:0006425 biolink:NamedThing obsolete spinal chordoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002894 True owl:Class MONDO:0022434 biolink:NamedThing obsolete amelia cleft lip palate hydrocephalus iris coloboma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011052 True owl:Class MONDO:0006529 biolink:NamedThing obsolete bullous skin disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019337 True owl:Class MONDO:0006437 biolink:NamedThing obsolete superficial fibromatosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016037 True owl:Class MONDO:0010513 biolink:NamedThing obsolete intellectual disability, X-linked, syndromic, Borck type tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010258 OMIM merged these. True https://github.com/monarch-initiative/mondo/issues/1693 owl:Class OBO:mondo#related biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0019812 biolink:NamedThing obsolete tricuspid valve prolapse tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007001 True owl:Class MONDO:0016278 biolink:NamedThing obsolete carcinosarcoma of the cervix uteri Carcinosarcoma of the cervix uteri is a rare, malignant, mixed epithelial and mesenchymal tumor, located in the cervix uteri, composed of an admixture of carcinomatous and sarcomatous elements. It usually presents with abnormal vaginal bleeding and a round, well-defined, grey to yellowish-white, pedunculated polypoid mass protruding through the cervical canal. Association with HPV infection (especially serotype 16) has been frequently reported. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002877 True owl:Class MONDO:0004793 biolink:NamedThing obsolete uterine corpus cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006003 True owl:Class MONDO:0001267 biolink:NamedThing obsolete Lemierre syndrome tmpaxzxjjyw_mondo_relaxed.owl obsolete Lemierre's syndrome MONDO:0015306 True owl:Class MONDO:0013399 biolink:NamedThing obsolete cardiomyopathy, dilated, 1T tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000911 True owl:Class MONDO:0016813 biolink:NamedThing obsolete microsporidiosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005846 True owl:Class MONDO:0000121 biolink:NamedThing obsolete emphysema tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005024 True owl:Class MONDO:0002709 biolink:NamedThing obsolete Kallmann syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018800 True owl:Class MONDO:0016324 biolink:NamedThing obsolete hypertrophic cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005045 True owl:Class dc:rights biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000272 biolink:NamedThing obsolete autoimmune polyendocrine syndrome type 2 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010012 True owl:Class MONDO:0002151 biolink:NamedThing obsolete dysostosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018234 True owl:Class MONDO:0002430 biolink:NamedThing obsolete acute interstitial pneumonia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019203 True owl:Class MONDO:0011328 biolink:NamedThing obsolete autosomal dominant limb-girdle muscular dystrophy type 1E tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018098 True owl:Class MONDO:0022566 biolink:NamedThing obsolete BEST1 retinopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007931 True https://rarediseases.info.nih.gov/diseases/10301/best1-retinopathy owl:Class MONDO:0022446 biolink:NamedThing obsolete amyloidosis nodular localized cutaneous tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015302 duplicate True https://github.com/monarch-initiative/mondo/issues/139 owl:Class MONDO:0006434 biolink:NamedThing obsolete Subependymoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007667 True owl:Class GO:0043900 biolink:NamedThing obsolete regulation of multi-organism process OBSOLETE. Any process that modulates the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0003484 biolink:NamedThing obsolete penis squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018352 True owl:Class MONDO:0000350 biolink:NamedThing obsolete Charcot-Marie-Tooth disease intermediate type tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018778 True owl:Class MONDO:0006954 biolink:NamedThing obsolete rheumatic fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017767 True owl:Class MONDO:0005162 biolink:NamedThing obsolete influenza infection tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005812 True owl:Class MONDO:0019184 biolink:NamedThing obsolete ankylostomiasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005645 True owl:Class MONDO:0004809 biolink:NamedThing obsolete cannabis abuse tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005689 True owl:Class MONDO:0021628 biolink:NamedThing obsolete lacrimal system disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001854 True owl:Class MONDO:0011645 biolink:NamedThing obsolete aneurysmal bone cysts tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0018815 True https://github.com/monarch-initiative/mondo/issues/2868 owl:Class MONDO:0020006 biolink:NamedThing obsolete rare hematologic disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005570 True owl:Class MONDO:0000103 biolink:NamedThing obsolete Wilms tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019004 True owl:Class MONDO:0006127 biolink:NamedThing obsolete cecum villous adenoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000525 True owl:Class MONDO:0009160 biolink:NamedThing obsolete Ehlers-Danlos syndrome, type 6 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016002 True owl:Class MONDO:0016732 biolink:NamedThing obsolete dysembryoplastic neuroepithelial tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005505 True owl:Class MONDO:0000051 biolink:NamedThing obsolete keratoderma, palmoplantar striate tmpaxzxjjyw_mondo_relaxed.owl See genetic heterogeneity of OMIM 148700. True owl:Class MONDO:0002932 biolink:NamedThing obsolete conjunctival disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006170 True owl:Class MONDO:0013494 biolink:NamedThing obsolete PSMNSW tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100226 Replacing this with a non-mendelian form of this disease. True https://github.com/monarch-initiative/mondo/issues/2083 owl:Class MONDO:0000725 biolink:NamedThing obsolete Simpson-Golabi-Behmel syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010731 True owl:Class MONDO:0002873 biolink:NamedThing obsolete testicular germ cell tumor non-seminomatous tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006447 True owl:Class MONDO:0001018 biolink:NamedThing obsolete lymphoblastic leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004967 True owl:Class MONDO:0001010 biolink:NamedThing obsolete natural killer cell leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019470 True owl:Class MONDO:0003201 biolink:NamedThing obsolete esophagus adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005028 True owl:Class MONDO:0004818 biolink:NamedThing obsolete benign neurilemmoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002546 True owl:Class MONDO:0006114 biolink:NamedThing obsolete bladder squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002760 True owl:Class MONDO:0015287 biolink:NamedThing obsolete vulvar intraepithelial neoplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005198 True owl:Class MONDO:0006942 biolink:NamedThing obsolete reflex epilepsy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017768 True owl:Class MONDO:0000146 biolink:NamedThing obsolete progeroid syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015333 True owl:Class MONDO:0021683 biolink:NamedThing obsolete transmissible disease OBSOLETE A disease that can be transmitted from one organism to another, typically but not always by an infectious process. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005550 True owl:Class MONDO:0004061 biolink:NamedThing obsolete mitochondrial myopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009637 True owl:Class MONDO:0020350 biolink:NamedThing obsolete Miller-Fisher syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005851 True owl:Class IAO:0000426 biolink:NamedThing first order logic expression tmpaxzxjjyw_mondo_relaxed.owl first order logic expression PERSON:Alan Ruttenberg owl:AnnotationProperty dc:subject biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0008897 biolink:NamedThing obsolete tumoral calcinosis, hyperphosphatemic, familial, 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100251 Split this term into the more general Orphanet class and more specific OMIM term. True https://github.com/monarch-initiative/mondo/issues/962 owl:Class MONDO:0008077 biolink:NamedThing obsolete neurofibromatosis, type 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018975 True owl:Class MONDO:0018819 biolink:NamedThing obsolete fibular aplasia-tibial campomelia-oligosyndactyly syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009526 True owl:Class MONDO:0019477 biolink:NamedThing obsolete angioimmunoblastic T-cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004977 True owl:Class MONDO:0044260 biolink:NamedThing obsolete ec1 tmpaxzxjjyw_mondo_relaxed.owl natural Killer cell susceptibility 1|susceptibility to lysis by ALLOREACTIVE natural KILLER cells|EC1 HGNC:7832 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0000504 biolink:NamedThing obsolete follicular lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018906 True owl:Class MONDO:0000883 biolink:NamedThing obsolete myeloid neoplasms associated with PDGFRB rearrangement tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0015690 True https://github.com/monarch-initiative/mondo/issues/3845 owl:Class MONDO:0022512 biolink:NamedThing obsolete atrial septal defect coronary sinus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020435 Duplicate. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0000546 biolink:NamedThing obsolete parotid gland adenoid cystic carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006356 True owl:Class IAO:0000424 biolink:NamedThing expand expression to A macro expansion tag applied to an object property (or possibly a data property) which can be used by a macro-expansion engine to generate more complex expressions from simpler ones tmpaxzxjjyw_mondo_relaxed.owl expand expression to ObjectProperty: RO_0002104 Label: has plasma membrane part Annotations: IAO_0000424 "http://purl.obolibrary.org/obo/BFO_0000051 some (http://purl.org/obo/owl/GO#GO_0005886 and http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)" Chris Mungall owl:AnnotationProperty MONDO:0000260 biolink:NamedThing obsolete Kartagener syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016575 True owl:Class MONDO:0003160 biolink:NamedThing obsolete sebaceous carcinoma An adenocarcinoma with sebaceous differentiation. It presents as a painless mass and it may be multifocal. It grows in the ocular adnexae and in the skin of head and neck, trunk, genitals, and extremities. It is characterized by the presence of malignant cells with multivesicular and clear cytoplasm. It may recur and metastasize. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006962 True owl:Class MONDO:0017908 biolink:NamedThing obsolete hyperekplexia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017658 True owl:Class dc:relation biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty http://attempto.ifi.uzh.ch/ace_lexicon#TV_vbg biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000564 biolink:NamedThing obsolete cerebellar ataxia, mental retardation and dysequlibrium syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009133 True owl:Class https://w3id.org/biodatamodels/gff/start biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000323 biolink:NamedThing obsolete familial adenomatous polyposis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008279 True owl:Class GO:0051197 biolink:NamedThing obsolete positive regulation of coenzyme metabolic process OBSOLETE. Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme. tmpaxzxjjyw_mondo_relaxed.owl positive regulation of coenzyme and prosthetic group metabolic process|up regulation of coenzyme metabolic process|activation of coenzyme metabolic process|stimulation of coenzyme metabolic process|upregulation of coenzyme metabolic process|up-regulation of coenzyme metabolic process|positive regulation of coenzyme and prosthetic group metabolism|positive regulation of coenzyme metabolism True owl:Class MONDO:0004003 biolink:NamedThing obsolete pancreatic solid pseudopapillary carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018525 True owl:Class MONDO:0006100 biolink:NamedThing obsolete Bartholin gland carcinoma tmpaxzxjjyw_mondo_relaxed.owl obsolete Bartholin gland carcinoma (disease) obsolete Bartholin gland carcinoma (disease) MONDO:0002829 True owl:Class MONDO:0007063 biolink:NamedThing obsolete long bone adamantinoma A adamantinoma that involves the long bone. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002422 True owl:Class MONDO:0019459 biolink:NamedThing obsolete myeloid sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006861 True owl:Class MONDO:0003407 biolink:NamedThing obsolete ovarian yolk sac tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006344 True owl:Class MONDO:0008190 biolink:NamedThing obsolete human papillomavirus type 18 integration site 1 tmpaxzxjjyw_mondo_relaxed.owl http://identifiers.org/hgnc/5166 True owl:Class MONDO:0004171 biolink:NamedThing obsolete congenital epulis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015528 True owl:Class MONDO:0004783 biolink:NamedThing obsolete panhypopituitarism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019591 True owl:Class IAO:0000598 biolink:NamedThing has ID policy for Relating an ontology used to record id policy to the ontology namespace whose policy it manages tmpaxzxjjyw_mondo_relaxed.owl has ID policy for Ontology: Annotations: 'has ID prefix': "http://purl.obolibrary.org/obo/RO_" 'has ID digit count' : 7, rdfs:label "RO id policy" 'has ID policy for': "RO" Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0001587 biolink:NamedThing obsolete mucopolysaccharidosis type 4 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018938 True owl:Class MONDO:0018179 biolink:NamedThing obsolete bacterial toxic-shock syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001881 True owl:Class MONDO:0006371 biolink:NamedThing obsolete pineocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016723 True owl:Class MONDO:0044680 biolink:NamedThing obsolete short rib-polydactyly syndrome type 5 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0013569 True https://github.com/monarch-initiative/mondo/issues/2806 owl:Class IAO:0000597 biolink:NamedThing has ID range allocated to Relates a datatype that encodes a range of integers to the name of the person or organization who can use those ids constructed in that range to define new terms tmpaxzxjjyw_mondo_relaxed.owl has ID range allocated Datatype: idrange:1 Annotations: 'has ID range allocated to': "Chris Mungall" EquivalentTo: xsd:integer[> 2151 , <= 2300] Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0000134 biolink:NamedThing obsolete inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000507 True owl:Class MONDO:0001333 biolink:NamedThing obsolete Patau syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018068 True owl:Class MONDO:0008279 biolink:NamedThing obsolete familial adenomatous polyposis type 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021055 True owl:Class MONDO:0000177 biolink:NamedThing obsolete laryngeal abductor paralysis tmpaxzxjjyw_mondo_relaxed.owl True owl:Class CL:0000181 biolink:NamedThing obsolete metabolising cell A cell whose primary function is intermediary metabolism. tmpaxzxjjyw_mondo_relaxed.owl Removing this grouping class, because the groupings are incomplete and too hard to maintain. True cell https://github.com/obophenotype/cell-ontology/issues/720 owl:Class MONDO:0019352 biolink:NamedThing obsolete sporotrichosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005968 True owl:Class MONDO:0019592 biolink:NamedThing obsolete disorder of sex development In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of gonadal hormones in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002145 True owl:Class MONDO:0006020 biolink:NamedThing obsolete Zollinger-Ellison syndrome tmpaxzxjjyw_mondo_relaxed.owl obsolete Zollinger-Ellison syndrome (disease) obsolete Zollinger-Ellison syndrome (disease) MONDO:0019610 True owl:Class MONDO:0000102 biolink:NamedThing obsolete vertigo tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0008360 biolink:NamedThing obsolete radioulnar synostosis tmpaxzxjjyw_mondo_relaxed.owl obsolete radioulnar synostosis (disease) obsolete radioulnar synostosis (disease) MONDO:0017985 True owl:Class MONDO:0000846 biolink:NamedThing obsolete craniodiaphyseal dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009031 True owl:Class MONDO:0005330 biolink:NamedThing obsolete angiosarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016982 True owl:Class MONDO:0000072 biolink:NamedThing obsolete myopathy, reducing body, X-linked tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0007582 biolink:NamedThing obsolete Cockayne syndrome B tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019570 True owl:Class MONDO:0000718 biolink:NamedThing obsolete Adams-Oliver syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007034 True owl:Class MONDO:0014610 biolink:NamedThing obsolete ciliary dyskinesia, primary, 31 tmpaxzxjjyw_mondo_relaxed.owl moved to 243605 MONDO:0009477 True owl:Class MONDO:0000887 biolink:NamedThing obsolete hepatic veno-occlusive disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019514 True owl:Class MONDO:0016023 biolink:NamedThing obsolete ocular coloboma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001476 Obsolete in Orphanet. True https://github.com/monarch-initiative/mondo/issues/391 owl:Class MONDO:0000558 biolink:NamedThing obsolete spastic ataxia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017845 True owl:Class MONDO:0000042 biolink:NamedThing obsolete hyperprolinemia tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0004246 biolink:NamedThing obsolete lymphatic system disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005833 True owl:Class MONDO:0000566 biolink:NamedThing obsolete substance withdrawal disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005567 True owl:Class MONDO:0000131 biolink:NamedThing obsolete hyperpigmentation, familial progressive tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0002011 biolink:NamedThing obsolete hereditary angioedema tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019623 True owl:Class MONDO:0002566 biolink:NamedThing obsolete complex regional pain syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019369 True owl:Class MONDO:0000164 biolink:NamedThing obsolete corneal dystrophy, Fuchs endothelial tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005321 True owl:Class MONDO:0000202 biolink:NamedThing obsolete Heimler syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100259 True owl:Class MONDO:0005455 biolink:NamedThing obsolete cholangiocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019087 True owl:Class MONDO:0010616 biolink:NamedThing obsolete hypogonadism, male tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009421 True owl:Class GO:1900387 biolink:NamedThing obsolete negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter OBSOLETE. A negative regulation of transcription from RNA polymerase II promoter that results in negative regulation of cell-cell adhesion. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0017848 biolink:NamedThing obsolete partial deletion of the short arm of chromosome 12 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0022174 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class MONDO:0000714 biolink:NamedThing obsolete crest syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019563 True owl:Class MONDO:0000641 biolink:NamedThing obsolete cerebellar medulloblastoma A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007959 True owl:Class MONDO:0000077 biolink:NamedThing obsolete nystagmus tmpaxzxjjyw_mondo_relaxed.owl obsolete nystagmus (disease) obsolete nystagmus (disease) MONDO:0005712 True owl:Class GO:0043901 biolink:NamedThing obsolete negative regulation of multi-organism process OBSOLETE. Any process that stops, prevents, or reduces the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0002596 biolink:NamedThing obsolete chordoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008978 True owl:Class MONDO:0004395 biolink:NamedThing obsolete mixed oligodendroglioma-astrocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016702 True owl:Class MONDO:0003483 biolink:NamedThing obsolete gastric squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006230 True owl:Class MONDO:0005934 biolink:NamedThing obsolete pyruvate decarboxylase deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019169 True owl:Class MONDO:0008851 biolink:NamedThing obsolete autism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005260 True owl:Class GO:0044437 biolink:NamedThing obsolete vacuolar part OBSOLETE. Any constituent part of a vacuole, a closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. tmpaxzxjjyw_mondo_relaxed.owl vacuole component GO:0005773 True owl:Class MONDO:0015685 biolink:NamedThing obsolete peritoneal cystic mesothelioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006363 True owl:Class MONDO:0006667 biolink:NamedThing obsolete B- and T-cell mixed leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020322 True owl:Class MONDO:0000067 biolink:NamedThing obsolete mitochondrial DNA depletion syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018158 True owl:Class MONDO:0005234 biolink:NamedThing obsolete polymyositis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019127 True owl:Class MONDO:0003418 biolink:NamedThing obsolete bile duct adenoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006108 True owl:Class MONDO:0018452 biolink:NamedThing obsolete deficiency of the interleukin-36 receptor antagonist tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0013626 True https://github.com/monarch-initiative/mondo/issues/2829 owl:Class MONDO:0000038 biolink:NamedThing obsolete hyper-IgE recurrent infection syndrome tmpaxzxjjyw_mondo_relaxed.owl See text of OMIM 147060. MONDO:0018037 True owl:Class MONDO:0000435 biolink:NamedThing obsolete splenic marginal zone lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006431 True owl:Class MONDO:0008117 biolink:NamedThing obsolete oculopharyngodistal myopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020793 obsoleted as it was ambiguous as to whether it references the generic grouping or type 1 True owl:Class MONDO:0003814 biolink:NamedThing obsolete gastric diffuse adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005017 True owl:Class MONDO:0000557 biolink:NamedThing obsolete hereditary ataxia tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0100309 True https://github.com/monarch-initiative/mondo/issues/2866 owl:Class MONDO:0003440 biolink:NamedThing obsolete bladder flat intraepithelial lesion tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006111 True owl:Class MONDO:0000185 biolink:NamedThing obsolete polyposis syndrome, hereditary mixed tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0019495 biolink:NamedThing obsolete yolk sac tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005744 True owl:Class MONDO:0000985 biolink:NamedThing obsolete ehrlichiosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016003 True owl:Class GO:0051196 biolink:NamedThing obsolete regulation of coenzyme metabolic process OBSOLETE. Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a coenzyme. tmpaxzxjjyw_mondo_relaxed.owl regulation of coenzyme and prosthetic group metabolic process|regulation of coenzyme metabolism|regulation of coenzyme and prosthetic group metabolism True owl:Class MONDO:0006080 biolink:NamedThing obsolete ampulla of vater carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017590 True owl:Class MONDO:0014964 biolink:NamedThing obsolete encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044646 True https://github.com/monarch-initiative/mondo/issues/1623 owl:Class ENVO:01000010 biolink:NamedThing obsolete abiotic mesoscopic physical object tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0019363 biolink:NamedThing obsolete murine typhus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000330 True owl:Class MONDO:0003166 biolink:NamedThing obsolete pilocytic astrocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016691 True owl:Class MONDO:0010609 biolink:NamedThing obsolete Hirschsprung disease with type d brachydactyly tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016294 True owl:Class MONDO:0000399 biolink:NamedThing obsolete dyskinetic cerebral palsy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0022697 True owl:Class MONDO:0004476 biolink:NamedThing obsolete thymus sarcomatoid carcinoma A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006452 True owl:Class MONDO:0015866 biolink:NamedThing obsolete malignant tumor of fallopian tubes tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002158 True owl:Class MONDO:0005840 biolink:NamedThing obsolete mast-cell leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020334 True owl:Class MONDO:0019361 biolink:NamedThing obsolete boutonneuse fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005677 True owl:Class MONDO:0017099 biolink:NamedThing obsolete facioscapulohumeral dystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001347 True owl:Class MONDO:0021684 biolink:NamedThing obsolete infectious disease of central nervous system tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024619 True owl:Class MONDO:0005604 biolink:NamedThing obsolete plasma cell leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018689 True owl:Class MONDO:0009799 biolink:NamedThing obsolete pachydermoperiostosis tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0016620 True https://github.com/monarch-initiative/mondo/issues/3395 owl:Class MONDO:0005882 biolink:NamedThing obsolete onchocerciasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017137 True owl:Class MONDO:0022495 biolink:NamedThing obsolete arthritis short stature deafness tmpaxzxjjyw_mondo_relaxed.owl https://github.com/monarch-initiative/mondo/issues/141 GARD:0000775 This term was found in the globalgenes.org rare disease list, but no information could be found about it. True owl:Class MONDO:0002838 biolink:NamedThing obsolete spindle cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006406 True owl:Class MONDO:0002389 biolink:NamedThing obsolete adenofibroma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006071 True owl:Class MONDO:0001124 biolink:NamedThing obsolete filariasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016075 True owl:Class MONDO:0000719 biolink:NamedThing obsolete Baraitser-winter syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017579 True owl:Class MONDO:0044808 biolink:NamedThing obsolete early onset primary dystonia tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0007492 True https://github.com/monarch-initiative/mondo/issues/2809 owl:Class MONDO:0000112 biolink:NamedThing obsolete cardioencephalomyopathy, fatal infantile tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015487 True owl:Class MONDO:0019343 biolink:NamedThing obsolete mixed connective tissue disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005854 True owl:Class MONDO:0002777 biolink:NamedThing obsolete pleural empyema tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018667 True owl:Class MONDO:0007563 biolink:NamedThing obsolete epistaxis, hereditary tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0023310 biolink:NamedThing obsolete hemiplegic migraine tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018925 True owl:Class OIO:is_inferred biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0019400 biolink:NamedThing obsolete testicular seminomatous germ cell tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003669 True owl:Class MONDO:0002344 biolink:NamedThing obsolete corneal dystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018102 True owl:Class MONDO:0005443 biolink:NamedThing obsolete type 2 diabetes nephropathy tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0005016 True https://github.com/monarch-initiative/mondo/issues/3277 owl:Class MONDO:0005948 biolink:NamedThing obsolete Ritter disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018181 True owl:Class OBO:ro.owl#y biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0000982 biolink:NamedThing obsolete Brown's tendon sheath syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014624 True owl:Class MONDO:0000585 biolink:NamedThing obsolete Good syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015696 True owl:Class MONDO:0003259 biolink:NamedThing obsolete melioidosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017775 True owl:Class MONDO:0001981 biolink:NamedThing obsolete cholesterol ester storage disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019149 True owl:Class MONDO:0004610 biolink:NamedThing obsolete multiple carboxylase deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015454 True owl:Class MONDO:0000695 biolink:NamedThing obsolete histidinemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009345 True owl:Class MONDO:0011293 biolink:NamedThing obsolete Homocysteinemia tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0004743 True https://github.com/monarch-initiative/mondo/issues/3247 owl:Class MONDO:0004154 biolink:NamedThing obsolete central nervous system embryonal carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018843 True owl:Class MONDO:0044924 biolink:NamedThing obsolete acute myeloid leukemia with mutated CEBPA tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017894 NCIT noted acute myeloid leukemia with mutated CEBPA and acute myeloid leukemia with CEBPA somatic mutations are synonyms, they should be merged. True https://github.com/monarch-initiative/mondo/issues/366 owl:Class MONDO:0002015 biolink:NamedThing obsolete brittle cornea syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009242 True owl:Class MONDO:0004121 biolink:NamedThing obsolete prostate small cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006390 True owl:Class MONDO:0003269 biolink:NamedThing obsolete subependymal giant cell astrocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016693 True owl:Class MONDO:0018399 biolink:NamedThing obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018398 True https://github.com/monarch-initiative/mondo/issues/414|https://github.com/monarch-initiative/mondo/issues/254 owl:Class MONDO:0000081 biolink:NamedThing obsolete ovarian dysgenesis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009299 True owl:Class MONDO:0016119 biolink:NamedThing obsolete mitochondrial myopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009637 True owl:Class dc:type biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0001107 biolink:NamedThing obsolete cerebral lipidosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020143 True owl:Class MONDO:0000619 biolink:NamedThing obsolete triple-receptor negative breast cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005494 True owl:Class MONDO:0003131 biolink:NamedThing obsolete congenital mesoblastic nephroma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017043 True owl:Class MONDO:0024289 biolink:NamedThing obsolete disorder of bilirubin metabolism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017755 True owl:Class MONDO:0000046 biolink:NamedThing obsolete hypouricemia, renal tmpaxzxjjyw_mondo_relaxed.owl See text of OMIM 220150, does not include 307830. True owl:Class GO:0044454 biolink:NamedThing obsolete nuclear chromosome part OBSOLETE. Any constituent part of a nuclear chromosome, a chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. tmpaxzxjjyw_mondo_relaxed.owl GO:0000228 True owl:Class GO:0044421 biolink:NamedThing obsolete extracellular region part OBSOLETE. Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite. tmpaxzxjjyw_mondo_relaxed.owl extracellular structure GO:0005576 True owl:Class MONDO:0100142 biolink:NamedThing obsolete severe COVID-19 infection A COVID-19 infection where individuals have respiratory frequency >30 breaths per minute, SpO2 ≤93% on room air at sea level, ratio of arterial partial pressure of oxygen to fraction of inspired oxygen (PaO2/FiO2) <300, or lung infiltrates >50%. tmpaxzxjjyw_mondo_relaxed.owl Not a disease http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class MONDO:0000145 biolink:NamedThing obsolete premature aging syndrome tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0020514 biolink:NamedThing obsolete thymoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006456 True owl:Class MONDO:0009834 biolink:NamedThing obsolete pancreatic insufficiency, combined exocrine tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009479 True owl:Class MONDO:0005064 biolink:NamedThing obsolete infectious meningitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004796 True owl:Class GO:0100018 biolink:NamedThing obsolete regulation of glucose import by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates glucose import. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0019273 biolink:NamedThing obsolete porokeratosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006602 True owl:Class MONDO:0006293 biolink:NamedThing obsolete malignant mixed neoplasm tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005853 True owl:Class MONDO:0000101 biolink:NamedThing obsolete tumoral calcinosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018891 True owl:Class MONDO:0024254 biolink:NamedThing obsolete vibratory angioedema tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008657 True owl:Class MONDO:0020114 biolink:NamedThing obsolete polycythemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005571 True owl:Class OIO:shorthand biolink:NamedThing shorthand tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000439 biolink:NamedThing obsolete batten disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019262 True owl:Class MONDO:0004113 biolink:NamedThing obsolete HCL-v tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017600 True owl:Class MONDO:0004735 biolink:NamedThing obsolete Alagille syndrome tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0004119 biolink:NamedThing obsolete endometrial small cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006197 True owl:Class MONDO:0002024 biolink:NamedThing obsolete cholera tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015766 True owl:Class MONDO:0006341 biolink:NamedThing obsolete ovarian small cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003795 True owl:Class MONDO:0003838 biolink:NamedThing obsolete malignant ACTH producing neoplasm of pituitary gland tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006069 True owl:Class MONDO:0044268 biolink:NamedThing obsolete transsexuality tmpaxzxjjyw_mondo_relaxed.owl TRANSSEXUALITY OMIM:600952 Obsoleted as it represents a trait or is a legacy entry True owl:Class MONDO:0002079 biolink:NamedThing obsolete neuroendocrine tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019496 True owl:Class MONDO:0005951 biolink:NamedThing obsolete sarcocystosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018903 True owl:Class GO:0060850 biolink:NamedThing obsolete regulation of transcription involved in cell fate commitment OBSOLETE. Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter that contributes to the commitment of a cell to a specific fate. tmpaxzxjjyw_mondo_relaxed.owl GO:0006357|GO:0045165 True owl:Class MONDO:0011447 biolink:NamedThing obsolete epilepsy, familial focal, with variable foci tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000215 True owl:Class MONDO:0100007 biolink:NamedThing obsolete chronic inflammatory demyelinating polyneuropathy tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0006702 True https://github.com/monarch-initiative/mondo/issues/3697 owl:Class MONDO:0003657 biolink:NamedThing obsolete methotrexate-associated lymphoproliferation tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019483 True owl:Class MONDO:0005038 biolink:NamedThing obsolete genetic disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003847 True owl:Class MONDO:0007255 biolink:NamedThing obsolete colorectal cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005575 True owl:Class MONDO:0003961 biolink:NamedThing obsolete cervical large cell neuroendocrine carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006138 True owl:Class MONDO:0001077 biolink:NamedThing obsolete short bowel syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015183 True owl:Class MONDO:0001058 biolink:NamedThing obsolete gastric fundus cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004950 True owl:Class MONDO:0002094 biolink:NamedThing obsolete conjunctival squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006173 True owl:Class IAO:0000425 biolink:NamedThing expand assertion to A macro expansion tag applied to an annotation property which can be expanded into a more detailed axiom. tmpaxzxjjyw_mondo_relaxed.owl expand assertion to ObjectProperty: RO??? Label: spatially disjoint from Annotations: expand_assertion_to "DisjointClasses: (http://purl.obolibrary.org/obo/BFO_0000051 some ?X) (http://purl.obolibrary.org/obo/BFO_0000051 some ?Y)" Chris Mungall owl:AnnotationProperty IAO:0000603 biolink:NamedThing is allocated id range Relates an ontology IRI to an (inclusive) range of IRIs in an OBO name space. The range is give as, e.g. "IAO_0020000-IAO_0020999" tmpaxzxjjyw_mondo_relaxed.owl Add as annotation triples in the granting ontology is allocated id range PERSON:Alan Ruttenberg owl:AnnotationProperty MONDO:0000010 biolink:NamedThing obsolete cerebrooculofacioskeletal syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008926 True owl:Class MONDO:0000175 biolink:NamedThing obsolete ataxia-telangiectasia-like disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011457 True owl:Class MONDO:0000614 biolink:NamedThing obsolete estrogen-receptor negative breast cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006513 True owl:Class MONDO:0016741 biolink:NamedThing obsolete teratoma of the central nervous system tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002718 True owl:Class MONDO:0003071 biolink:NamedThing obsolete epidermolysis bullosa simplex tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017610 True owl:Class MONDO:0019089 biolink:NamedThing obsolete adult acute respiratory distress syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006502 True owl:Class MONDO:0002431 biolink:NamedThing obsolete nonspecific interstitial pneumonia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019622 True owl:Class MONDO:0002819 biolink:NamedThing obsolete Loeffler endocarditis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019159 True owl:Class MONDO:0000444 biolink:NamedThing obsolete ARC syndrome tmpaxzxjjyw_mondo_relaxed.owl pericyte cell syndromic disease MONDO:0017123 True owl:Class MONDO:0004954 biolink:NamedThing obsolete malt lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007650 True owl:Class GO:0044425 biolink:NamedThing obsolete membrane part OBSOLETE. Any constituent part of a membrane, a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. tmpaxzxjjyw_mondo_relaxed.owl GO:0016020 True owl:Class GO:0044445 biolink:NamedThing obsolete cytosolic part OBSOLETE. Any constituent part of cytosol, that part of the cytoplasm that does not contain membranous or particulate subcellular components. tmpaxzxjjyw_mondo_relaxed.owl cytosol component GO:0005829 True owl:Class MONDO:0002826 biolink:NamedThing obsolete tuberculosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018076 True owl:Class MONDO:0021122 biolink:NamedThing obsolete small cell neuroendocrine carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000402 True owl:Class MONDO:0006508 biolink:NamedThing obsolete infantile epileptic encephalopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016021 True owl:Class rdfs:seeAlso biolink:NamedThing seeAlso tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2000/01/rdf-schema#seeAlso True True seeAlso owl:AnnotationProperty MONDO:0004576 biolink:NamedThing obsolete pellagra tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019975 True owl:Class MONDO:0020719 biolink:NamedThing obsolete susceptibility to Hirschsprung disease tmpaxzxjjyw_mondo_relaxed.owl HSCR MONDO:0018309 True owl:Class MONDO:0017208 biolink:NamedThing obsolete intermediate uveitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006806 True owl:Class MONDO:0019785 biolink:NamedThing obsolete 15q24 microdeletion syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013256 True owl:Class MONDO:0006289 biolink:NamedThing obsolete malignant epitheloid mesothelioma tmpaxzxjjyw_mondo_relaxed.owl EFO:1000351 True owl:Class MONDO:0100145 biolink:NamedThing obsolete presymptomatic COVID-19 infection A COVID-19 infection where individuals test positive for SARS-CoV-2 but have no symptoms when they first test positive, but develop symptoms later on. tmpaxzxjjyw_mondo_relaxed.owl Not a disease MONDO:0100096 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/issues/2896 owl:Class IAO:0000123 biolink:NamedThing metadata incomplete Class is being worked on; however, the metadata (including definition) are not complete or sufficiently clear to the branch editors. tmpaxzxjjyw_mondo_relaxed.owl metadata incomplete IAO:0000078 MONDO:0019523 biolink:NamedThing obsolete Walker-Warburg syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000171 These are considered equivalent in OMIM. True https://github.com/monarch-initiative/mondo/issues/1223 owl:Class MONDO:0000419 biolink:NamedThing obsolete 3-Methylcrotonyl-CoA carboxylase deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018950 True owl:Class MONDO:0004157 biolink:NamedThing obsolete pancreatic mucinous cystadenoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018523 True owl:Class MONDO:0005686 biolink:NamedThing obsolete Bunyaviridae infectious disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021641 True owl:Class MONDO:0006453 biolink:NamedThing obsolete thymic small cell carcinoma An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004122 True owl:Class MONDO:0020335 biolink:NamedThing obsolete desquamative interstitial pneumonia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009887 True owl:Class dc:coverage biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000008 biolink:NamedThing obsolete bare lymphocyte syndrome tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0007897 biolink:NamedThing obsolete leukemia, chronic lymphocytic tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004948 True owl:Class MONDO:0000822 biolink:NamedThing obsolete lymphoproliferative syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016537 True owl:Class MONDO:0006204 biolink:NamedThing obsolete extramammary Paget disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008177 True owl:Class MONDO:0015996 biolink:NamedThing obsolete systemic capillary leak syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001956 True owl:Class MONDO:0002584 biolink:NamedThing obsolete syringomyelia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017987 True owl:Class MONDO:0021044 biolink:NamedThing obsolete Wilms tumor An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006058 True owl:Class GO:0072361 biolink:NamedThing obsolete regulation of glycolytic process by regulation of transcription from RNA polymerase II promoter OBSOLETE. Any process that modulates the frequency, rate or extent of glycolysis by modulating the frequency, rate or extent of transcription from an RNA polymerase II promoter. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0004839 biolink:NamedThing obsolete neurofibroma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016755 True owl:Class MONDO:0001425 biolink:NamedThing obsolete Rett syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010726 True owl:Class MONDO:0000018 biolink:NamedThing obsolete myotonic dystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016107 True owl:Class MONDO:0001450 biolink:NamedThing obsolete arachnoiditis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015304 True owl:Class MONDO:0000123 biolink:NamedThing obsolete factor V and Factor VIII, combined deficiency of tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018175 True owl:Class MONDO:0002743 biolink:NamedThing obsolete prostate colloid adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006067 True owl:Class OIO:is_class_level biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0001097 biolink:NamedThing obsolete juvenile glaucoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020367 True owl:Class MONDO:0003817 biolink:NamedThing obsolete peritoneal serous papillary adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018368 True https://github.com/monarch-initiative/mondo/issues/392 owl:Class MONDO:0000366 biolink:NamedThing obsolete glycogen storage disease IX tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018251 True owl:Class IAO:0010000 biolink:NamedThing has axiom label tmpaxzxjjyw_mondo_relaxed.owl Person:Alan Ruttenberg has axiom id A URI that is intended to be unique label for an axiom used for tracking change to the ontology. For an axiom expressed in different languages, each expression is given the same URI Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0006535 biolink:NamedThing obsolete cicatricial pemphigoid tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018746 True owl:Class OBO:mondo#excluded_from_qc_check biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000269 biolink:NamedThing obsolete inhalation anthrax tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016595 True owl:Class MONDO:0005422 biolink:NamedThing obsolete nodular sclerosis Hodgkin lymphoma A distinct, highly heritable Hodgkin lymphoma subtype. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004665 True owl:Class MONDO:0030965 biolink:NamedThing obsolete olmsted syndrome 2 tmpaxzxjjyw_mondo_relaxed.owl duplicate True https://github.com/monarch-initiative/mondo/pull/3056 owl:Class MONDO:0019566 biolink:NamedThing obsolete Klippel-Trenaunay syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007864 True owl:Class MONDO:0000765 biolink:NamedThing obsolete corneal stromal dystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020213 True owl:Class MONDO:0005897 biolink:NamedThing obsolete paratyphoid fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018626 True owl:Class MONDO:0000274 biolink:NamedThing obsolete tick-borne encephalitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017572 True owl:Class MONDO:0002668 biolink:NamedThing obsolete gallbladder adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006215 True owl:Class MONDO:0002292 biolink:NamedThing obsolete granular cell tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006235 True owl:Class MONDO:0006319 biolink:NamedThing obsolete nevus of Ota tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016984 True owl:Class MONDO:0005548 biolink:NamedThing obsolete malignant rhabdoid tumour tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002728 True owl:Class MONDO:0004284 biolink:NamedThing obsolete malignant cystic nephroma tmpaxzxjjyw_mondo_relaxed.owl obsoleted as cystic neprhomas are benign True owl:Class MONDO:0012070 biolink:NamedThing obsolete autosomal dominant Charcot-Marie-Tooth disease type 2G tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013753 OMIM merged these True https://github.com/monarch-initiative/mondo/issues/1701 owl:Class MONDO:0002284 biolink:NamedThing obsolete gangliosidosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017719 True owl:Class urn:swrl#p biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0004084 biolink:NamedThing obsolete uveal epithelioid cell melanoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006200 True owl:Class IAO:0000600 biolink:NamedThing elucidation tmpaxzxjjyw_mondo_relaxed.owl Person:Barry Smith elucidation Primitive terms in a highest-level ontology such as BFO are terms which are so basic to our understanding of reality that there is no way of defining them in a non-circular fashion. For these, therefore, we can provide only elucidations, supplemented by examples and by axioms person:Alan Ruttenberg owl:AnnotationProperty MONDO:0006445 biolink:NamedThing obsolete testicular choriocarcinoma A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003508 True owl:Class MONDO:0010345 biolink:NamedThing obsolete ocular albinism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017304 True owl:Class MONDO:0002228 biolink:NamedThing obsolete malignant ovarian surface epithelial-stromal neoplasm tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018364 True owl:Class IAO:0000596 biolink:NamedThing has ID digit count Relates an ontology used to record id policy to the number of digits in the URI. The URI is: the 'has ID prefix" annotation property value concatenated with an integer in the id range (left padded with "0"s to make this many digits) tmpaxzxjjyw_mondo_relaxed.owl has ID digit count Ontology: Annotations: 'has ID prefix': "http://purl.obolibrary.org/obo/RO_" 'has ID digit count' : 7, rdfs:label "RO id policy" 'has ID policy for': "RO" Person:Alan Ruttenberg owl:AnnotationProperty MONDO:0002364 biolink:NamedThing obsolete Wolffian duct adenoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024889 True owl:Class MONDO:0020802 biolink:NamedThing obsolete basal cell cancer A neoplasm composed of basal cells that metastasizes to other anatomic sites. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020804 Obsoleted as it is equivalent to basal cell carcinoma. See https://github.com/monarch-initiative/mondo/issues/2495 True owl:Class MONDO:0000264 biolink:NamedThing obsolete Pontiac fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020487 True owl:Class MONDO:0006063 biolink:NamedThing obsolete carbohydrate metabolic disorder tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019214 True owl:Class MONDO:0005685 biolink:NamedThing obsolete bullous pemphigoid tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019082 True owl:Class urn:swrl#B biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0000697 biolink:NamedThing obsolete succinic semialdehyde dehydrogenase deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010083 True owl:Class MONDO:0000311 biolink:NamedThing obsolete congenital hypothyroidism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018612 True owl:Class MONDO:0005390 biolink:NamedThing obsolete cardiac arrhythmia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007263 True owl:Class MONDO:0001934 biolink:NamedThing obsolete primary hypertrophic osteoarthropathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016620 True owl:Class MONDO:0000058 biolink:NamedThing obsolete melanoma, cutaneous malignant tmpaxzxjjyw_mondo_relaxed.owl MONDO:0024462 True owl:Class MONDO:0001948 biolink:NamedThing obsolete Riedel's fibrosing thyroiditis tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0018992 True https://github.com/monarch-initiative/mondo/issues/2980 owl:Class MONDO:0005839 biolink:NamedThing obsolete Marburg hemorrhagic fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020500 True owl:Class MONDO:0020534 biolink:NamedThing obsolete farmer's lung tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001971 True owl:Class MONDO:0002767 biolink:NamedThing obsolete protein C deficiency A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019145 True owl:Class MONDO:0015684 biolink:NamedThing obsolete malignant peritoneal mesothelioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005512 True owl:Class MONDO:0018195 biolink:NamedThing obsolete non-seminomatous germ cell tumor of testis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002873 True owl:Class MONDO:0015815 biolink:NamedThing obsolete primary cutaneous diffuse large B-cell lymphoma, leg type tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006383 True owl:Class MONDO:0023191 biolink:NamedThing obsolete Freire-Maia odontotrichomelic syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010111 Duplicate True https://github.com/monarch-initiative/mondo/issues/2579 owl:Class MONDO:0018909 biolink:NamedThing obsolete legionellosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005823 True owl:Class MONDO:0010892 biolink:NamedThing obsolete mitochondrial myopathy and sideroblastic anemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000863 True owl:Class MONDO:0018272 biolink:NamedThing obsolete small cell carcinoma of the ovary A small cell carcinoma that involves the ovary. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003795 True owl:Class MONDO:0012633 biolink:NamedThing obsolete malaria tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005136 True owl:Class MONDO:0019030 biolink:NamedThing obsolete Acanthamoeba keratitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005629 True owl:Class MONDO:0002704 biolink:NamedThing obsolete appendix adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006087 True owl:Class MONDO:0006332 biolink:NamedThing obsolete ovarian choriocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003507 True owl:Class MONDO:0003156 biolink:NamedThing obsolete adenosquamous carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006074 True owl:Class MONDO:0000035 biolink:NamedThing obsolete glucocorticoid deficiency tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000696 biolink:NamedThing obsolete juvenile absence epilepsy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011876 True owl:Class MONDO:0004968 biolink:NamedThing obsolete acute myelomonocytic leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018871 True owl:Class MONDO:0017605 biolink:NamedThing obsolete ependymal tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003266 True owl:Class MONDO:0005243 biolink:NamedThing obsolete Cushing syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018912 True owl:Class MONDO:0000305 biolink:NamedThing obsolete fusariosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016426 True owl:Class MONDO:0001550 biolink:NamedThing obsolete Duane retraction syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007473 True owl:Class MONDO:0002753 biolink:NamedThing obsolete mucinous stomach adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006309 True owl:Class MONDO:0002893 biolink:NamedThing obsolete chondroid chordoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006145 True owl:Class dc:format biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty GO:0100032 biolink:NamedThing obsolete positive regulation of phospholipid biosynthetic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that positively regulates phospholipid biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000567 biolink:NamedThing obsolete C1 inhibitor deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007361 True owl:Class MONDO:0009981 biolink:NamedThing obsolete retinitis pigmentosa type 1 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008377 True owl:Class MONDO:0005442 biolink:NamedThing obsolete type 1 diabetes nephropathy tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0005016 True https://github.com/monarch-initiative/mondo/issues/3277 owl:Class MONDO:0001900 biolink:NamedThing obsolete central neurocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019134 True owl:Class MONDO:0006384 biolink:NamedThing obsolete primary effusion lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018842 True owl:Class MONDO:0007081 biolink:NamedThing obsolete allergic bronchopulmonary aspergillosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015243 True owl:Class MONDO:0000216 biolink:NamedThing obsolete congenital bilateral aplasia of vas deferens tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000019 biolink:NamedThing obsolete ectodermal dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019287 True owl:Class MONDO:0018345 biolink:NamedThing obsolete T+ B+ severe combined immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044201|MONDO:0044200 True owl:Class MONDO:0000154 biolink:NamedThing obsolete Trichohepatoenteric syndrome tmpaxzxjjyw_mondo_relaxed.owl True owl:Class RO:0001900 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000838 biolink:NamedThing obsolete chromosomal disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019040 True owl:Class MONDO:0000917 biolink:NamedThing obsolete thyroid lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019962 True owl:Class MONDO:0004068 biolink:NamedThing obsolete disease of anatomical entity tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000001 True owl:Class MONDO:0003583 biolink:NamedThing obsolete atypical lipomatous tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006097 True owl:Class MONDO:0007076 biolink:NamedThing obsolete ocular albinism with sensorineural deafness tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018138 True owl:Class MONDO:0000720 biolink:NamedThing obsolete basal ganglia calcification tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008947 True owl:Class MONDO:0100334 biolink:NamedThing obsolete viral infectious disease or sequela tmpaxzxjjyw_mondo_relaxed.owl duplicate MONDO:0100321 http://orcid.org/0000-0001-5208-3432 True https://github.com/monarch-initiative/mondo/pull/3118#issuecomment-871858054 owl:Class https://w3id.org/biodatamodels/gff/end biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0003533 biolink:NamedThing obsolete gastric papillary adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006228 True owl:Class OBO:ncbitaxon#has_rank biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty dc:contributor biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0016427 biolink:NamedThing obsolete coccidioidomycosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005706 True owl:Class MONDO:0020080 biolink:NamedThing obsolete histiocytic and dendritic cell tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006247 True owl:Class MONDO:0003854 biolink:NamedThing obsolete tibial adamantinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006469 True owl:Class MONDO:0016245 biolink:NamedThing obsolete ovarian cancer tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008170 True owl:Class MONDO:0020498 biolink:NamedThing obsolete Lassa fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005820 True owl:Class MONDO:0003527 biolink:NamedThing obsolete Ferguson-Smith tumor A rare genetic neoplastic disorder with an autosomal dominant pattern of inheritance characterized by multiple, recurrent skin cancers that spontaneously resolve. It has been described almost exclusively in families of Scottish origin. It is caused by a mutation in the tumor-suppressing gene, TGFBR1, on chromosome 9. Clinical presentation is usually rapidly growing squamous cell carcinomas or keratoacanthomas that primarily localize to sun-exposed areas. Appearance of the neoplasms occurs over several weeks before receding over the course of several months if untreated. The regression of the lesions leaves pitting cicatrices but no other known sequelae. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007566 True owl:Class MONDO:0000717 biolink:NamedThing obsolete acrofrontofacionasal dysostosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008715 True owl:Class MONDO:0002147 biolink:NamedThing obsolete Coffin-Siris syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015452 True owl:Class MONDO:0002593 biolink:NamedThing obsolete thymic carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020515 True owl:Class MONDO:0000354 biolink:NamedThing obsolete JMP syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017959 True https://github.com/monarch-initiative/mondo/issues/1271 owl:Class MONDO:0003203 biolink:NamedThing obsolete pituitary carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017582 True owl:Class MONDO:0000360 biolink:NamedThing obsolete 2-hydroxyglutaric aciduria tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016001 True owl:Class MONDO:0003176 biolink:NamedThing obsolete cervical adenoid cystic carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006133 True owl:Class MONDO:0010249 biolink:NamedThing obsolete X-linked B cell surface antigen, mouse, homolog-like 1 tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000759 biolink:NamedThing obsolete acrorenal syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007059 True owl:Class MONDO:0017367 biolink:NamedThing obsolete kindler syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008260 True owl:Class MONDO:0005637 biolink:NamedThing obsolete adult-onset Still disease tmpaxzxjjyw_mondo_relaxed.owl obsolete adult-onset Still's disease MONDO:0019355 True owl:Class MONDO:0002346 biolink:NamedThing obsolete malignant histiocytic disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004612 True owl:Class MONDO:0005782 biolink:NamedThing obsolete HELLP syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008585 True owl:Class MONDO:0000657 biolink:NamedThing obsolete gamma heavy chain disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015046 True owl:Class MONDO:0000277 biolink:NamedThing obsolete Argentine hemorrhagic fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017874 True owl:Class IAO:0000228 biolink:NamedThing term imported tmpaxzxjjyw_mondo_relaxed.owl This is to be used when the original term has been replaced by a term imported from an other ontology. An editor note should indicate what is the URI of the new term to use. term imported IAO:0000225 MONDO:0000191 biolink:NamedThing obsolete renal hypodysplasia/aplasia tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000493 biolink:NamedThing obsolete Muckle-Wells syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008633 True owl:Class MONDO:0008987 biolink:NamedThing obsolete cirrhosis, familial tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007329 True owl:Class MONDO:0024390 biolink:NamedThing obsolete actinomycotic infectious disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006921 True owl:Class MONDO:0021720 biolink:NamedThing obsolete fetal alcohol spectrum disorders tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0000408 True https://github.com/monarch-initiative/mondo/issues/3393 owl:Class MONDO:0006263 biolink:NamedThing obsolete Langerhans cell histiocytosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018310 True owl:Class MONDO:0009989 biolink:NamedThing obsolete enhanced S-cone syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100288 Split into two terms. True https://github.com/monarch-initiative/mondo/issues/2684 owl:Class MONDO:0005205 biolink:NamedThing obsolete systemic lupus erythematosus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007915 True owl:Class MONDO:0000040 biolink:NamedThing obsolete hyperphenylalaninemia, BH4-deficient tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016543 True owl:Class MONDO:0002835 biolink:NamedThing obsolete papillary transitional carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006350 True owl:Class urn:swrl#mf biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0006177 biolink:NamedThing obsolete cutaneous undifferentiated pleomorphic sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002141 True owl:Class MONDO:0006017 biolink:NamedThing obsolete western equine encephalitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019380 True owl:Class MONDO:0006101 biolink:NamedThing obsolete Bartholin gland squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004053 True owl:Class MONDO:0018415 biolink:NamedThing obsolete hymenolepiasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005802 True owl:Class MONDO:0000832 biolink:NamedThing obsolete myeloid neoplasm tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005170 True owl:Class MONDO:0001354 biolink:NamedThing obsolete acute endophthalmitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017202 True owl:Class MONDO:0044630 biolink:NamedThing obsolete rere-related neurodevelopmental syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014857 True owl:Class MONDO:0015956 biolink:NamedThing obsolete rare hereditary ataxia Rare hereditary ataxia. tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000557 True owl:Class MONDO:0000578 biolink:NamedThing obsolete CD3gamma deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014276 True owl:Class MONDO:0016339 biolink:NamedThing obsolete restrictive cardiomyopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005201 True owl:Class MONDO:0000068 biolink:NamedThing obsolete mucolipidosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019248 True owl:Class MONDO:0015754 biolink:NamedThing obsolete cylindrical spirals myopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008058 True owl:Class MONDO:0011278 biolink:NamedThing obsolete bile duct cysts tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0018805 True https://github.com/monarch-initiative/mondo/issues/3613 owl:Class MONDO:0003415 biolink:NamedThing obsolete hemoglobin d disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019537 True owl:Class GO:0100024 biolink:NamedThing obsolete regulation of carbohydrate metabolic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates carbohydrate metabolic process. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0019185 biolink:NamedThing obsolete rhabdomyosarcoma tmpaxzxjjyw_mondo_relaxed.owl obsolete rhabdomyosarcoma (disease) obsolete rhabdomyosarcoma (disease) MONDO:0005212 True owl:Class MONDO:0008997 biolink:NamedThing obsolete Cockayne syndrome A tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019569 True owl:Class MONDO:0018331 biolink:NamedThing obsolete rare genetic dystonia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0044807 True owl:Class GO:0005623 biolink:NamedThing obsolete cell OBSOLETE. The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0003123 biolink:NamedThing obsolete multiple system atrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007803 True owl:Class MONDO:0000329 biolink:NamedThing obsolete epidemic typhus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019362 True owl:Class MONDO:0000853 biolink:NamedThing obsolete Kniest dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007987 True owl:Class MONDO:0020471 biolink:NamedThing obsolete pituitary adenoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006373 True owl:Class MONDO:0018650 biolink:NamedThing obsolete hemochromatosis type 5 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0014225 True owl:Class MONDO:0015202 biolink:NamedThing obsolete babesiosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005661 True owl:Class MONDO:0000132 biolink:NamedThing obsolete hypocalcemia tmpaxzxjjyw_mondo_relaxed.owl obsolete hypocalcemia (disease) obsolete hypocalcemia (disease) True owl:Class MONDO:0019021 biolink:NamedThing obsolete pigmented villonodular synovitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006906 True owl:Class MONDO:0005054 biolink:NamedThing obsolete juvenile dermatomyositis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008054 True owl:Class MONDO:0001980 biolink:NamedThing obsolete Wolman disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019148 True owl:Class MONDO:0015561 biolink:NamedThing obsolete aleukemic mast cell leukemia tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0020334 True https://github.com/monarch-initiative/mondo/issues/3084 owl:Class MONDO:0016916 biolink:NamedThing obsolete partial deletion of the long arm of chromosome 18 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0011147 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class MONDO:0018517 biolink:NamedThing obsolete obsolete carcinoma of the anal canal tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007108 True owl:Class MONDO:0002538 biolink:NamedThing obsolete progressive muscular atrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018687 True owl:Class MONDO:0000862 biolink:NamedThing obsolete reducing body myopathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019948 True owl:Class MONDO:0022725 biolink:NamedThing obsolete chondrodysplasia lethal recessive tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015425 This was a duplicate class. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class GO:0005724 biolink:NamedThing obsolete nuclear telomeric heterochromatin OBSOLETE. Heterochromatic regions of the chromosome found at the telomeres of a chromosome in the nucleus. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class OIO:hasExactSynonym biolink:NamedThing has_exact_synonym tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000352 biolink:NamedThing obsolete hereditary sensory neuropathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015364 True owl:Class MONDO:0000011 biolink:NamedThing obsolete chondrodysplasia tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0001677 biolink:NamedThing obsolete Rift valley fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017880 True owl:Class MONDO:0100411 biolink:NamedThing obsolete acute myeloid leukemia, NPM1 gene mutation tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0044923 True https://github.com/monarch-initiative/mondo/issues/3583 owl:Class MONDO:0006695 biolink:NamedThing obsolete cervical rib syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007303 True owl:Class MONDO:0020551 biolink:NamedThing obsolete hydatidiform mole tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006248 True owl:Class MONDO:0002608 biolink:NamedThing obsolete gangliosidosis GM2 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017720 True owl:Class MONDO:0000689 biolink:NamedThing obsolete survival motor neuron spinal muscular atrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009669 True owl:Class MONDO:0000221 biolink:NamedThing obsolete cerebroretinal microangiopathy with calcifications and cysts tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0019958 biolink:NamedThing obsolete insulinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005048 True owl:Class MONDO:0010071 biolink:NamedThing obsolete spondyloenchondrodysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011939 OMIM merged this term. True https://github.com/monarch-initiative/mondo/issues/1687 owl:Class MONDO:0010419 biolink:NamedThing obsolete X-linked sideroblastic anemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020721 This term is duplicative with X-linked sideroblastic anemia 1. True https://github.com/monarch-initiative/mondo/issues/2107 owl:Class MONDO:0001013 biolink:NamedThing obsolete fibrosclerosis of breast tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006118 True owl:Class MONDO:0006253 biolink:NamedThing obsolete infiltrating bladder urothelial carcinoma sarcomatoid variant tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004278 True owl:Class MONDO:0000125 biolink:NamedThing obsolete fundus dystrophy, pseudoinflammatory tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0017873 biolink:NamedThing obsolete Ebola hemorrhagic fever tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005737 True owl:Class urn:swrl#z biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0000047 biolink:NamedThing obsolete immunodeficiency with hyper-IgM tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003947 True owl:Class MONDO:0017707 biolink:NamedThing obsolete disorder of lipid metabolism tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002525 True owl:Class MONDO:0004998 biolink:NamedThing obsolete chondromyxoid fibroma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018447 True owl:Class MONDO:0005370 biolink:NamedThing obsolete interstitial lung disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015925 True owl:Class IAO:0000231 biolink:NamedThing has obsolescence reason Relates an annotation property to an obsolescence reason. The values of obsolescence reasons come from a list of predefined terms, instances of the class obsolescence reason specification. tmpaxzxjjyw_mondo_relaxed.owl has obsolescence reason PERSON:Alan Ruttenberg|PERSON:Melanie Courtot owl:AnnotationProperty MONDO:0002091 biolink:NamedThing obsolete cryptosporidiosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015474 True owl:Class MONDO:0000176 biolink:NamedThing obsolete megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019375 True owl:Class urn:swrl#y biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0000711 biolink:NamedThing obsolete amyotrophic lateral sclerosis type 13 tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008458 True owl:Class MONDO:0005818 biolink:NamedThing obsolete Langerhans cell sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019480 True owl:Class MONDO:0000186 biolink:NamedThing obsolete spondyloepimetaphyseal dysplasia with joint laxity tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019675 True owl:Class MONDO:0006070 biolink:NamedThing obsolete acute leukemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010643 True owl:Class MONDO:0002890 biolink:NamedThing obsolete gastrointestinal adenoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006180 True owl:Class MONDO:0001573 biolink:NamedThing obsolete Friedreich ataxia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009245 True owl:Class MONDO:0007146 biolink:NamedThing obsolete apnea, central sleep tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008807 True owl:Class MONDO:0000362 biolink:NamedThing obsolete Sensenbrenner syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009032 True owl:Class MONDO:0022314 biolink:NamedThing obsolete Hernandez Aguirre-Negrete syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016290 True owl:Class MONDO:0015676 biolink:NamedThing obsolete hyperandrogenism due to cortisone reductase deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0000193 True owl:Class GO:0044444 biolink:NamedThing obsolete cytoplasmic part OBSOLETE. Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. tmpaxzxjjyw_mondo_relaxed.owl cytoplasm component GO:0005737 True owl:Class MONDO:0020079 biolink:NamedThing obsolete plasma cell tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004959 True owl:Class MONDO:0004688 biolink:NamedThing obsolete sideroblastic anemia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015194 True owl:Class MONDO:0006136 biolink:NamedThing obsolete cervical endometrioid adenocarcinoma tmpaxzxjjyw_mondo_relaxed.owl True owl:Class FOODON:03411215 biolink:NamedThing obsolete: algae, bacteria or fungus tmpaxzxjjyw_mondo_relaxed.owl Disjunction discouraged, use specific item instead. http://www.langual.org/langual_thesaurus.asp?termid=B1215 True http://langual.org owl:Class MONDO:0015456 biolink:NamedThing obsolete whooping cough tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005077 True owl:Class MONDO:0002023 biolink:NamedThing obsolete cystic echinococcosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018408 True owl:Class MONDO:0020565 biolink:NamedThing obsolete adenocarcinoma of esophagus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005028 True owl:Class MONDO:0003148 biolink:NamedThing obsolete SM-AHNMD tmpaxzxjjyw_mondo_relaxed.owl MONDO:0020332 True https://github.com/monarch-initiative/mondo/issues/1270 owl:Class MONDO:0007978 biolink:NamedThing obsolete malignant mesothelioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006292 True owl:Class MONDO:0016920 biolink:NamedThing obsolete partial deletion of the long arm of chromosome 22 tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0022760 True https://github.com/monarch-initiative/mondo/issues/3664 owl:Class MONDO:0008550 biolink:NamedThing obsolete thoracolaryngopelvic dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008551 True owl:Class MONDO:0000174 biolink:NamedThing obsolete split-hand/foot malformation with long bone deficiency tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000555 biolink:NamedThing obsolete autosomal recessive hypophosphatemic rickets tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017324 True owl:Class MONDO:0020566 biolink:NamedThing obsolete Klatskin tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003345 True owl:Class MONDO:0001002 biolink:NamedThing obsolete pulmonary siderosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008346 True owl:Class MONDO:0003451 biolink:NamedThing obsolete laryngeal neuroendocrine tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015070 True owl:Class MONDO:0000198 biolink:NamedThing obsolete linear skin defects with multiple congenital anomalies tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000443 biolink:NamedThing obsolete adenylosuccinase lyase deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007068 True owl:Class MONDO:0015633 biolink:NamedThing obsolete Bazex syndrome tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0010535 True https://github.com/monarch-initiative/mondo/issues/3693 owl:Class OIO:id biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000388 biolink:NamedThing obsolete anonychia congenita tmpaxzxjjyw_mondo_relaxed.owl hyponychia congenita MONDO:0008798 True owl:Class MONDO:0013667 biolink:NamedThing obsolete myelodysplastic syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018881 True owl:Class MONDO:0000511 biolink:NamedThing obsolete gallbladder adenoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006216 True owl:Class MONDO:0000100 biolink:NamedThing obsolete trichorhinophalangeal syndrome tmpaxzxjjyw_mondo_relaxed.owl True owl:Class urn:swrl#x biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0019598 biolink:NamedThing obsolete fragile X syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010383 True owl:Class MONDO:0017664 biolink:NamedThing obsolete rare genetic myoclonus tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017663 True owl:Class http://protege.stanford.edu/plugins/owl/protege#defaultLanguage biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0020086 biolink:NamedThing obsolete idiopathic interstitial pneumonia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0002429 True owl:Class MONDO:0008631 biolink:NamedThing obsolete renal agenesis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018470 True owl:Class OIO:hasRelatedSynonym biolink:NamedThing has_related_synonym tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0000031 biolink:NamedThing obsolete fatty liver disease, nonalcoholic tmpaxzxjjyw_mondo_relaxed.owl MONDO:0013209 True owl:Class MONDO:0001069 biolink:NamedThing obsolete leukodystrophy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0019046 True owl:Class MONDO:0003183 biolink:NamedThing obsolete trachea adenoid cystic carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006471 True owl:Class MONDO:0006205 biolink:NamedThing obsolete extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0021039 True owl:Class MONDO:0009289 biolink:NamedThing obsolete glycogen storage disease IC tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009288 This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i True owl:Class MONDO:0000189 biolink:NamedThing obsolete Schindler disease tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000533 biolink:NamedThing obsolete vaginal carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015867 True owl:Class MONDO:0003146 biolink:NamedThing obsolete ependymoblastoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016715 True owl:Class MONDO:0008664 biolink:NamedThing obsolete autosomal dominant neovascular inflammatory vitreoretinopathy tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0006928 True https://github.com/monarch-initiative/mondo/issues/3110 owl:Class MONDO:0012065 biolink:NamedThing obsolete Stevens-Johnson syndrome tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018229 True owl:Class MONDO:0009730 biolink:NamedThing obsolete nephrosialidosis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0009738 True owl:Class urn:swrl#A biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OBO:ro.owl#z biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0016597 biolink:NamedThing obsolete generalized pustular psoriasis tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0013626 True https://github.com/monarch-initiative/mondo/issues/2829 owl:Class urn:swrl#e biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0002374 biolink:NamedThing obsolete parachordoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006351 True owl:Class MONDO:0019001 biolink:NamedThing obsolete biotin-responsive basal ganglia disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011841 True owl:Class MONDO:0000441 biolink:NamedThing obsolete X-linked myopathy with excessive autophagy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010684 True owl:Class MONDO:0018350 biolink:NamedThing obsolete malignant tumor of penis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0001325 True owl:Class GO:0044763 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0004870 biolink:NamedThing obsolete diabetic neuropathy tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006626 True owl:Class MONDO:0005285 biolink:NamedThing obsolete kidney stone tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008171 True owl:Class MONDO:0019968 biolink:NamedThing obsolete Osgood-Schlatter disease tmpaxzxjjyw_mondo_relaxed.owl MONDO:0004241 True owl:Class MONDO:0000183 biolink:NamedThing obsolete hypertrophic osteoarthropathy, primary tmpaxzxjjyw_mondo_relaxed.owl MONDO:0016620 True owl:Class http://www.w3.org/2004/02/skos/core#broadMatch biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0005389 biolink:NamedThing obsolete sclerosing cholangitis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018646 True owl:Class OIO:is_metadata_tag biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty urn:swrl#a1 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0006819 biolink:NamedThing obsolete kernicterus tmpaxzxjjyw_mondo_relaxed.owl terms merged MONDO:0018477 True https://github.com/monarch-initiative/mondo/issues/3604 owl:Class http://www.w3.org/2004/02/skos/core#exactMatch biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty GO:0100070 biolink:NamedThing obsolete obsolete regulation of fatty acid biosynthetic process by transcription from RNA polymerase II promoter OBSOLETE. Any transcription from RNA polymerase II promoter process that regulates fatty acid biosynthetic process. tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0000021 biolink:NamedThing obsolete short-rib thoracic dysplasia tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018770 True owl:Class MONDO:0005646 biolink:NamedThing obsolete anisakiasis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015200 True owl:Class MONDO:0006342 biolink:NamedThing obsolete ovarian squamous cell carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003494 True owl:Class ENVO:00003075 biolink:NamedThing obsolete anthropogenic abiotic mesoscopic feature tmpaxzxjjyw_mondo_relaxed.owl True owl:Class MONDO:0003711 biolink:NamedThing obsolete malignant peripheral nerve sheath tumor tmpaxzxjjyw_mondo_relaxed.owl MONDO:0017827 True owl:Class MONDO:0009510 biolink:NamedThing obsolete Laron syndrome with immunodeficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0100211 Split this term and added OMIM phenotypic series as a parent. True owl:Class MONDO:0000431 biolink:NamedThing obsolete mantle cell lymphoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0018876 True owl:Class urn:swrl#D biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable dc:description biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0022463 biolink:NamedThing obsolete anophthalmia megalocornea cardiopathy skeletal anomalies tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015230 True owl:Class urn:swrl#g2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MONDO:0019481 biolink:NamedThing obsolete follicular dendritic cell sarcoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0005764 True owl:Class dc:date biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0017702 biolink:NamedThing obsolete glycerol kinase deficiency tmpaxzxjjyw_mondo_relaxed.owl MONDO:0010613 True owl:Class MONDO:0023065 biolink:NamedThing obsolete encephalopathy recurrent of childhood tmpaxzxjjyw_mondo_relaxed.owl MONDO:0007539 Duplicate. True https://github.com/monarch-initiative/mondo/issues/1764 owl:Class MONDO:0001970 biolink:NamedThing obsolete hypokalemic periodic paralysis tmpaxzxjjyw_mondo_relaxed.owl MONDO:0008223 True owl:Class MONDO:0000899 biolink:NamedThing obsolete malignant epithelioid hemangioendothelioma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0015523 True owl:Class MONDO:0000017 biolink:NamedThing obsolete deafness, autosomal recessive tmpaxzxjjyw_mondo_relaxed.owl MONDO:0011791 True owl:Class urn:swrl#d biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable OIO:hasSynonymType biolink:NamedThing has_synonym_type tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0016728 biolink:NamedThing obsolete cerebellar liponeurocytoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0006131 True owl:Class BFO:0000179 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty BFO:0000180 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty OBO:mondo#excluded_synonym biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty OBO:mondo#pathogenesis biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty MONDO:0017889 biolink:NamedThing obsolete mucinous tubular and spindle cell renal carcinoma tmpaxzxjjyw_mondo_relaxed.owl MONDO:0003011 True owl:Class http://attempto.ifi.uzh.ch/ace_lexicon#TV_pl biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty NCIT:A11 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty rdfs:comment biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty dc:publisher biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty http://geneontology.org/formats/oboInOwl#created_by biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty owl:deprecated biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty dc:language biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty OIO:source biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty OIO:hasBroadSynonym biolink:NamedThing has_broad_synonym tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty http://www.w3.org/2004/02/skos/core#relatedMatch biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty dc:title biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty urn:swrl#a2 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable dct:conformsTo biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty NCIT:P371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl owl:AnnotationProperty urn:swrl#eff biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable urn:swrl#C biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl http://www.w3.org/2003/11/swrl#Variable MESH:D010524 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5308 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3601 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0155498 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1858537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C85047 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C6867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2678266 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:244283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564354 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0279980 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:111806005 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/204110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1862555 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4657 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/618231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111789 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:268357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:1389 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014125 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2626 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:88887003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111684 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C92565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:33577 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1737210 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/612474 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537438 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:96148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254066006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:498448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:12537 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931835 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3105 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4085250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:88621 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:494547 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036203 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:14692 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0347095 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D001063 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0110741 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931457 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:331220 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:55881 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:8057 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610265 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:411788 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537940 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7503 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D052880 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553801 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:9191 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153246 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:717269008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:646 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:55166000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:11283 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79276 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:444013 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0878654 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4305375 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:254713002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:201 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060810 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332896 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C114770 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:182040 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563371 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060237 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2931750 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:390936003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C129742 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:5042 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4302109 biolink:NamedThing 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tmpaxzxjjyw_mondo_relaxed.owl MESH:C562792 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0343875 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D014718 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:98289 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:399293 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0090139 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0153385 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:198297004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3280906 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D018424 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:228357 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111564 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0079748 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2936826 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/600952 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3014 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:609571007 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:223727 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/606719 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3151189 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1842345 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4303565 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:254395 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1516858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10048930 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN036464 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0036918 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1518729 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:472 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080037 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN029084 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4658 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C562386 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C4310635 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/604454 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2930867 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C7911 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/107290 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:3577000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563753 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:722690001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D008582 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN200665 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl NCIT:C123038 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:2860 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0003614 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C148461 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101206 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:306686 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:47032000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2064434 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10050469 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN073359 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565639 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:2394 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:253975004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/248110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:79076 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:46701001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C535531 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/608133 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:7401 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:589515 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN201794 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C5423 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1850332 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:36866003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C564656 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565840 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN240512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:127035006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1336889 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0428791 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:9009001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:13448 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN204231 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0001309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:4698 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C126743 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0035455 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/610797 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:231120 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4329 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3888309 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0080028 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN248512 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C4628 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1857532 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MEDDRA:10000590 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63302006 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:444941 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:1234 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/212065 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:84193000 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/164185 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C563476 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1836148 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C537749 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750066 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:24526004 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:309130 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565102 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:C565162 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0050858 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0040798 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/616583 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:295073 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0111540 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:93110 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/275450 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl DOID:0060320 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:391327 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/entry/182230 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C131077 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1332312 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63450009 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl https://omim.org/phenotypicSeries/PS167250 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:205649008 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl 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tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:63479002 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C84897 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0017155 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:CN227640 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:240161003 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl MESH:D020417 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:101330 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:709 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl ORPHA:3348 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C1320317 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C0024140 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C3553929 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C3032 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl NCIT:C27645 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl SNOMEDCT:238829001 biolink:NamedThing tmpaxzxjjyw_mondo_relaxed.owl UMLS:C2750944 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